#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
AAK1	22848	genome.wustl.edu	37	2	69706155	69706155	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:69706155G>C	ENST00000409085.4	-	20	2984	c.2608C>G	c.(2608-2610)Ctg>Gtg	p.L870V	AAK1_ENST00000409068.1_Intron	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	870					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						TTAGAGAGCAGAGAGCAATCA	0.483																																						dbGAP											0													136.0	139.0	138.0					2																	69706155		1913	4148	6061	-	-	-	SO:0001583	missense	0			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.2608C>G	2.37:g.69706155G>C	ENSP00000386456:p.Leu870Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4ZFZ3|Q53RX6|Q9UPV4	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.L870V	ENST00000409085.4	37	c.2608	CCDS1893.2	2	.	.	.	.	.	.	.	.	.	.	G	22.9	4.344976	0.82022	.	.	ENSG00000115977	ENST00000409085	T	0.27104	1.69	5.88	5.01	0.66863	.	.	.	.	.	T	0.33962	0.0881	L	0.27053	0.805	0.80722	D	1	D	0.69078	0.997	D	0.72625	0.978	T	0.06180	-1.0841	9	0.12430	T	0.62	-0.3534	14.2895	0.66268	0.0711:0.0:0.9289:0.0	.	870	Q2M2I8	AAK1_HUMAN	V	870	ENSP00000386456:L870V	ENSP00000386456:L870V	L	-	1	2	AAK1	69559659	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.022000	0.57203	1.495000	0.48549	0.650000	0.86243	CTG	AAK1	-	NULL	ENSG00000115977		0.483	AAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AAK1	HGNC	protein_coding	OTTHUMT00000251847.4	95	0.00	0	G	NM_014911		69706155	69706155	-1	no_errors	ENST00000409085	ensembl	human	known	69_37n	missense	70	14.63	12	SNP	1.000	C
AARS	16	genome.wustl.edu	37	16	70295061	70295061	+	Splice_Site	SNP	C	C	G	rs113447635		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:70295061C>G	ENST00000564359.1	-	3	167		c.e3-1		AARS_ENST00000261772.8_Splice_Site					alanyl-tRNA synthetase											breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)		ACTCTGTTTTCTAAGAGGGGT	0.383																																						dbGAP											0													83.0	79.0	80.0					16																	70295061		2198	4300	6498	-	-	-	SO:0001630	splice_region_variant	0			D32050	CCDS32474.1	16q22.1	2014-09-17			ENSG00000090861	ENSG00000090861	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	20	protein-coding gene	gene with protein product	"""alanine tRNA ligase 1, cytoplasmic"""	601065				8595897	Standard	NM_001605		Approved		uc002eyn.1	P49588	OTTHUMG00000177042	ENST00000564359.1:c.424-1G>C	16.37:g.70295061C>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Splice_Site	SNP	-	e12-1	ENST00000564359.1	37	c.1672-1		16	.	.	.	.	.	.	.	.	.	.	C	22.6	4.315707	0.81469	.	.	ENSG00000090861	ENST00000261772	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.56	0.87903	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AARS	68852562	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.569000	0.82380	2.823000	0.97156	0.637000	0.83480	.	AARS	-	-	ENSG00000090861		0.383	AARS-006	KNOWN	NMD_likely_if_extended|basic|exp_conf	processed_transcript	AARS	HGNC	protein_coding	OTTHUMT00000435024.2	71	0.00	0	C	NM_001605	Intron	70295061	70295061	-1	no_errors	ENST00000261772	ensembl	human	known	69_37n	splice_site	83	20.19	21	SNP	1.000	G
AASDH	132949	genome.wustl.edu	37	4	57221357	57221357	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:57221357G>C	ENST00000205214.6	-	6	1274	c.1094C>G	c.(1093-1095)tCt>tGt	p.S365C	AASDH_ENST00000502617.1_Missense_Mutation_p.S365C|AASDH_ENST00000602986.1_Missense_Mutation_p.S212C|AASDH_ENST00000434343.2_5'UTR|AASDH_ENST00000451613.1_Missense_Mutation_p.S365C|AASDH_ENST00000510762.1_5'Flank|AASDH_ENST00000513376.1_Missense_Mutation_p.S265C	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	365					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				CTTGAGAGTAGAGTTAAGAGT	0.363																																						dbGAP											0													64.0	63.0	63.0					4																	57221357		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"""Acyl-CoA synthetase family"""	23993	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 4"""	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.1094C>G	4.37:g.57221357G>C	ENSP00000205214:p.Ser365Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_Acyl_carrier_prot-like,superfamily_Quinonprotein_ADH-like,superfamily_Acyl_carrier_prot-like,smart_PQQ_beta_propeller_repeat,pfscan_Acyl_carrier_prot-like	p.S365C	ENST00000205214.6	37	c.1094	CCDS3504.1	4	.	.	.	.	.	.	.	.	.	.	G	10.17	1.276340	0.23307	.	.	ENSG00000157426	ENST00000205214;ENST00000513376;ENST00000451613;ENST00000503808;ENST00000502617	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.68	4.83	0.62350	AMP-dependent synthetase/ligase (1);	0.345078	0.35436	N	0.003204	T	0.44726	0.1307	M	0.63208	1.945	0.50313	D	0.99986	B;B;B;B	0.30361	0.277;0.163;0.163;0.196	B;B;B;B	0.32724	0.151;0.063;0.063;0.096	T	0.46331	-0.9199	10	0.66056	D	0.02	-12.8428	14.9973	0.71443	0.0:0.142:0.858:0.0	.	212;365;365;365	E9PH98;Q4L235-4;Q4L235-3;Q4L235	.;.;.;ACSF4_HUMAN	C	365;265;365;212;365	ENSP00000205214:S365C;ENSP00000423760:S265C;ENSP00000409656:S365C;ENSP00000421171:S365C	ENSP00000205214:S365C	S	-	2	0	AASDH	56916114	1.000000	0.71417	0.952000	0.39060	0.411000	0.31082	2.656000	0.46716	1.390000	0.46547	-0.181000	0.13052	TCT	AASDH	-	pfam_AMP-dep_Synth/Lig	ENSG00000157426		0.363	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AASDH	HGNC	protein_coding	OTTHUMT00000250780.1	48	0.00	0	G	NM_181806		57221357	57221357	-1	no_errors	ENST00000205214	ensembl	human	known	69_37n	missense	32	21.95	9	SNP	0.986	C
AASS	10157	genome.wustl.edu	37	7	121755167	121755167	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:121755167G>A	ENST00000393376.1	-	8	1099	c.1004C>T	c.(1003-1005)tCa>tTa	p.S335L	AASS_ENST00000417368.2_Missense_Mutation_p.S335L|AASS_ENST00000473553.1_Intron			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	335	Lysine-ketoglutarate reductase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						ACCAGCAGGTGAGAACTTGCC	0.478																																						dbGAP											0													126.0	117.0	120.0					7																	121755167		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.1004C>T	7.37:g.121755167G>A	ENSP00000377040:p.Ser335Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	O95462	Missense_Mutation	SNP	pfam_Saccharopine_DH/HSpermid_syn,pfam_AlaDH/PNT_NAD(H)-bd,pfam_AlaDH/PNT_N	p.S335L	ENST00000393376.1	37	c.1004	CCDS5783.1	7	.	.	.	.	.	.	.	.	.	.	G	13.47	2.245772	0.39697	.	.	ENSG00000008311	ENST00000393376;ENST00000417368	.	.	.	5.68	5.68	0.88126	Alanine dehydrogenase/PNT, C-terminal (1);	0.316166	0.35151	N	0.003420	T	0.63733	0.2536	L	0.47716	1.5	0.43819	D	0.996383	B	0.28971	0.229	B	0.37198	0.243	T	0.59473	-0.7448	9	0.38643	T	0.18	-6.0051	19.8015	0.96509	0.0:0.0:1.0:0.0	.	335	Q9UDR5	AASS_HUMAN	L	335	.	ENSP00000351834:S335L	S	-	2	0	AASS	121542403	1.000000	0.71417	0.771000	0.31576	0.494000	0.33585	7.725000	0.84808	2.678000	0.91216	0.650000	0.86243	TCA	AASS	-	pfam_AlaDH/PNT_NAD(H)-bd	ENSG00000008311		0.478	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AASS	HGNC	protein_coding	OTTHUMT00000347300.1	134	0.00	0	G	NM_005763		121755167	121755167	-1	no_errors	ENST00000393376	ensembl	human	known	69_37n	missense	129	18.87	30	SNP	0.641	A
AASS	10157	genome.wustl.edu	37	7	121769564	121769564	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:121769564G>A	ENST00000393376.1	-	2	333	c.238C>T	c.(238-240)Cag>Tag	p.Q80*	AASS_ENST00000417368.2_Nonsense_Mutation_p.Q80*|AASS_ENST00000473553.1_Intron			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	80	Lysine-ketoglutarate reductase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						ATATCCTCCTGAAGAATGCCA	0.338																																						dbGAP											0													60.0	64.0	62.0					7																	121769564		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.238C>T	7.37:g.121769564G>A	ENSP00000377040:p.Gln80*	Somatic		WXS	Illumina GAIIx	Phase_IV	O95462	Nonsense_Mutation	SNP	pfam_Saccharopine_DH/HSpermid_syn,pfam_AlaDH/PNT_NAD(H)-bd,pfam_AlaDH/PNT_N	p.Q80*	ENST00000393376.1	37	c.238	CCDS5783.1	7	.	.	.	.	.	.	.	.	.	.	.	37	6.108818	0.97291	.	.	ENSG00000008311	ENST00000393376;ENST00000417368	.	.	.	5.3	5.3	0.74995	.	0.051826	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-9.8401	19.2841	0.94063	0.0:0.0:1.0:0.0	.	.	.	.	X	80	.	ENSP00000351834:Q80X	Q	-	1	0	AASS	121556800	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.799000	0.99117	2.634000	0.89283	0.591000	0.81541	CAG	AASS	-	pfam_AlaDH/PNT_N	ENSG00000008311		0.338	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AASS	HGNC	protein_coding	OTTHUMT00000347300.1	82	0.00	0	G	NM_005763		121769564	121769564	-1	no_errors	ENST00000393376	ensembl	human	known	69_37n	nonsense	41	41.43	29	SNP	1.000	A
ABAT	18	genome.wustl.edu	37	16	8839861	8839861	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:8839861C>G	ENST00000396600.2	+	3	1012	c.74C>G	c.(73-75)tCc>tGc	p.S25C	ABAT_ENST00000569156.1_Missense_Mutation_p.S25C|ABAT_ENST00000425191.2_Missense_Mutation_p.S25C|ABAT_ENST00000268251.8_Missense_Mutation_p.S25C|ABAT_ENST00000567812.1_Missense_Mutation_p.S40C	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	25					behavioral response to cocaine (GO:0048148)|copulation (GO:0007620)|gamma-aminobutyric acid catabolic process (GO:0009450)|locomotory behavior (GO:0007626)|negative regulation of blood pressure (GO:0045776)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	4-aminobutyrate transaminase complex (GO:0032144)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	(S)-3-amino-2-methylpropionate transaminase activity (GO:0047298)|4-aminobutyrate transaminase activity (GO:0003867)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|succinate-semialdehyde dehydrogenase binding (GO:0032145)			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					L-Alanine(DB00160)|Phenelzine(DB00780)|Pyruvic acid(DB00119)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	ACTGCAGGATCCAGACACATT	0.488																																						dbGAP											0													100.0	84.0	89.0					16																	8839861		2197	4300	6497	-	-	-	SO:0001583	missense	0			L32961	CCDS10534.1	16p13.2	2011-01-10			ENSG00000183044	ENSG00000183044	2.6.1.19		23	protein-coding gene	gene with protein product	"""4-aminobutyrate transaminase"""	137150				7721088	Standard	NM_020686		Approved	GABAT	uc002czc.4	P80404	OTTHUMG00000048201	ENST00000396600.2:c.74C>G	16.37:g.8839861C>G	ENSP00000379845:p.Ser25Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K386|Q16260|Q8N5W2|Q96BG2|Q99800	Missense_Mutation	SNP	pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4NH2But_aminotransferase_euk	p.S25C	ENST00000396600.2	37	c.74	CCDS10534.1	16	.	.	.	.	.	.	.	.	.	.	C	9.262	1.043547	0.19748	.	.	ENSG00000183044	ENST00000268251;ENST00000396600;ENST00000425191	D;D;D	0.82526	-1.62;-1.62;-1.62	4.92	1.28	0.21552	.	0.639420	0.16633	N	0.205948	T	0.57021	0.2025	N	0.02539	-0.55	0.21473	N	0.999679	B	0.02656	0.0	B	0.01281	0.0	T	0.49234	-0.8961	10	0.35671	T	0.21	-16.1053	5.3747	0.16158	0.128:0.2673:0.5148:0.0899	.	25	P80404	GABT_HUMAN	C	25	ENSP00000268251:S25C;ENSP00000379845:S25C;ENSP00000411916:S25C	ENSP00000268251:S25C	S	+	2	0	ABAT	8747362	0.030000	0.19436	0.989000	0.46669	0.947000	0.59692	0.114000	0.15520	0.546000	0.28920	0.650000	0.86243	TCC	ABAT	-	NULL	ENSG00000183044		0.488	ABAT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ABAT	HGNC	protein_coding	OTTHUMT00000433620.2	59	0.00	0	C	NM_020686		8839861	8839861	+1	no_errors	ENST00000268251	ensembl	human	known	69_37n	missense	44	31.25	20	SNP	0.305	G
ABAT	18	genome.wustl.edu	37	16	8841992	8841992	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:8841992C>T	ENST00000396600.2	+	4	1134	c.196C>T	c.(196-198)Cag>Tag	p.Q66*	ABAT_ENST00000569156.1_Nonsense_Mutation_p.Q66*|ABAT_ENST00000425191.2_Nonsense_Mutation_p.Q66*|ABAT_ENST00000268251.8_Nonsense_Mutation_p.Q66*|ABAT_ENST00000567812.1_Nonsense_Mutation_p.Q81*	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	66					behavioral response to cocaine (GO:0048148)|copulation (GO:0007620)|gamma-aminobutyric acid catabolic process (GO:0009450)|locomotory behavior (GO:0007626)|negative regulation of blood pressure (GO:0045776)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	4-aminobutyrate transaminase complex (GO:0032144)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	(S)-3-amino-2-methylpropionate transaminase activity (GO:0047298)|4-aminobutyrate transaminase activity (GO:0003867)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|succinate-semialdehyde dehydrogenase binding (GO:0032145)			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					L-Alanine(DB00160)|Phenelzine(DB00780)|Pyruvic acid(DB00119)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	GAATATAATTCAGGTAAGTGA	0.348																																						dbGAP											0													149.0	140.0	143.0					16																	8841992		2197	4300	6497	-	-	-	SO:0001587	stop_gained	0			L32961	CCDS10534.1	16p13.2	2011-01-10			ENSG00000183044	ENSG00000183044	2.6.1.19		23	protein-coding gene	gene with protein product	"""4-aminobutyrate transaminase"""	137150				7721088	Standard	NM_020686		Approved	GABAT	uc002czc.4	P80404	OTTHUMG00000048201	ENST00000396600.2:c.196C>T	16.37:g.8841992C>T	ENSP00000379845:p.Gln66*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K386|Q16260|Q8N5W2|Q96BG2|Q99800	Nonsense_Mutation	SNP	pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4NH2But_aminotransferase_euk	p.Q66*	ENST00000396600.2	37	c.196	CCDS10534.1	16	.	.	.	.	.	.	.	.	.	.	C	24.6	4.545994	0.86022	.	.	ENSG00000183044	ENST00000268251;ENST00000396600;ENST00000425191	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-2.8941	18.3412	0.90305	0.0:1.0:0.0:0.0	.	.	.	.	X	66	.	ENSP00000268251:Q66X	Q	+	1	0	ABAT	8749493	1.000000	0.71417	0.998000	0.56505	0.444000	0.32077	5.612000	0.67681	2.759000	0.94783	0.591000	0.81541	CAG	ABAT	-	superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4NH2But_aminotransferase_euk	ENSG00000183044		0.348	ABAT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ABAT	HGNC	protein_coding	OTTHUMT00000433620.2	167	0.00	0	C	NM_020686		8841992	8841992	+1	no_errors	ENST00000268251	ensembl	human	known	69_37n	nonsense	85	33.07	42	SNP	1.000	T
ABCA10	10349	genome.wustl.edu	37	17	67186601	67186601	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:67186601C>A	ENST00000269081.4	-	19	2938	c.2029G>T	c.(2029-2031)Gat>Tat	p.D677Y	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	677					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					GAACACTTATCAAGGTCACTG	0.308																																						dbGAP											0													85.0	81.0	83.0					17																	67186601		2203	4299	6502	-	-	-	SO:0001583	missense	0			AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.2029G>T	17.37:g.67186601C>A	ENSP00000269081:p.Asp677Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.D677Y	ENST00000269081.4	37	c.2029	CCDS11684.1	17	.	.	.	.	.	.	.	.	.	.	C	22.4	4.289030	0.80914	.	.	ENSG00000154263	ENST00000269081	D	0.84223	-1.82	2.99	2.99	0.34606	.	0.000000	0.34828	U	0.003658	D	0.94476	0.8222	H	0.96691	3.865	0.80722	D	1	D;D	0.89917	1.0;0.987	D;D	0.75484	0.986;0.95	D	0.96104	0.9071	10	0.87932	D	0	.	14.0407	0.64674	0.0:1.0:0.0:0.0	.	677;677	E5RFN6;Q8WWZ4	.;ABCAA_HUMAN	Y	677	ENSP00000269081:D677Y	ENSP00000269081:D677Y	D	-	1	0	ABCA10	64698196	0.988000	0.35896	0.032000	0.17829	0.986000	0.74619	3.573000	0.53856	1.664000	0.50801	0.563000	0.77884	GAT	ABCA10	-	NULL	ENSG00000154263		0.308	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA10	HGNC	protein_coding	OTTHUMT00000379881.4	105	0.00	0	C	NM_080282		67186601	67186601	-1	no_errors	ENST00000269081	ensembl	human	known	69_37n	missense	125	16.11	24	SNP	0.880	A
ZNF721	170960	genome.wustl.edu	37	4	420199	420199	+	IGR	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:420199G>C	ENST00000506646.1	-	0	935				ABCA11P_ENST00000451020.2_RNA			Q8TF20	ZN721_HUMAN	zinc finger protein 721						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(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						CCTGGAGCTTGAGAGCTTCCA	0.468																																						dbGAP											0																																										-	-	-	SO:0001628	intergenic_variant	0			AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20			4.37:g.420199G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q69YG7	RNA	SNP	-	NULL	ENST00000506646.1	37	NULL		4																																																																																			ABCA11P	-	-	ENSG00000251595		0.468	ZNF721-003	PUTATIVE	basic	protein_coding	ABCA11P	HGNC	protein_coding	OTTHUMT00000357869.2	62	0.00	0	G	NM_133474		420199	420199	-1	no_errors	ENST00000451020	ensembl	human	known	69_37n	rna	23	48.89	22	SNP	0.999	C
ABCA12	26154	genome.wustl.edu	37	2	215868942	215868942	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:215868942C>A	ENST00000272895.7	-	20	2893	c.2674G>T	c.(2674-2676)Gat>Tat	p.D892Y	ABCA12_ENST00000389661.4_Missense_Mutation_p.D574Y	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	892					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)		CCGAGTTCATCTATCTGTTTC	0.348																																					Ovarian(66;664 1488 5121 34295)	dbGAP											0													63.0	63.0	63.0					2																	215868942		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.2674G>T	2.37:g.215868942C>A	ENSP00000272895:p.Asp892Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.D892Y	ENST00000272895.7	37	c.2674	CCDS33372.1	2	.	.	.	.	.	.	.	.	.	.	C	14.45	2.539344	0.45176	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.85773	-2.03;-2.03	5.7	4.71	0.59529	.	0.454150	0.20682	N	0.087632	T	0.71888	0.3393	N	0.08118	0	0.80722	D	1	P;B	0.35575	0.51;0.068	B;B	0.40410	0.328;0.123	T	0.72673	-0.4222	10	0.72032	D	0.01	.	6.1007	0.20045	0.0:0.6611:0.1923:0.1466	.	892;574	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	Y	892;574	ENSP00000272895:D892Y;ENSP00000374312:D574Y	ENSP00000272895:D892Y	D	-	1	0	ABCA12	215577187	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	1.080000	0.30779	2.687000	0.91594	0.563000	0.77884	GAT	ABCA12	-	NULL	ENSG00000144452		0.348	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1	95	0.00	0	C	NM_173076		215868942	215868942	-1	no_errors	ENST00000272895	ensembl	human	known	69_37n	missense	80	23.08	24	SNP	0.996	A
ABCA13	154664	genome.wustl.edu	37	7	48269511	48269511	+	Missense_Mutation	SNP	C	C	T	rs534778852		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:48269511C>T	ENST00000435803.1	+	7	746	c.722C>T	c.(721-723)tCg>tTg	p.S241L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	241					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						GTGACCATTTCGACACTGACA	0.388																																						dbGAP											0													132.0	128.0	130.0					7																	48269511		1878	4121	5999	-	-	-	SO:0001583	missense	0			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.722C>T	7.37:g.48269511C>T	ENSP00000411096:p.Ser241Leu	Somatic		WXS	Illumina GAIIx	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.S241L	ENST00000435803.1	37	c.722	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	C	13.86	2.363308	0.41902	.	.	ENSG00000179869	ENST00000435803	D	0.87103	-2.21	5.72	4.83	0.62350	.	0.367308	0.19971	N	0.101987	D	0.83931	0.5361	L	0.27053	0.805	0.80722	D	1	D	0.71674	0.998	P	0.52031	0.688	T	0.80507	-0.1352	10	0.22109	T	0.4	.	12.8122	0.57645	0.0:0.836:0.164:0.0	.	241	Q86UQ4	ABCAD_HUMAN	L	241	ENSP00000411096:S241L	ENSP00000409268:S241L	S	+	2	0	ABCA13	48240057	0.075000	0.21258	0.543000	0.28128	0.010000	0.07245	1.636000	0.37144	1.406000	0.46857	0.655000	0.94253	TCG	ABCA13	-	NULL	ENSG00000179869		0.388	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	92	0.00	0	C	NM_152701		48269511	48269511	+1	no_errors	ENST00000435803	ensembl	human	known	69_37n	missense	46	26.98	17	SNP	0.905	T
ABCA13	154664	genome.wustl.edu	37	7	48312929	48312929	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:48312929C>A	ENST00000435803.1	+	17	3690	c.3666C>A	c.(3664-3666)ttC>ttA	p.F1222L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1222					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						CCAATGACTTCCATAATTGGG	0.363																																						dbGAP											0													43.0	42.0	42.0					7																	48312929		1823	4075	5898	-	-	-	SO:0001583	missense	0			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.3666C>A	7.37:g.48312929C>A	ENSP00000411096:p.Phe1222Leu	Somatic		WXS	Illumina GAIIx	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.F1222L	ENST00000435803.1	37	c.3666	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	C	7.826	0.718833	0.15372	.	.	ENSG00000179869	ENST00000435803	D	0.86097	-2.07	5.46	-5.14	0.02875	.	0.899008	0.09296	N	0.821685	T	0.79094	0.4388	M	0.62723	1.935	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.60939	-0.7163	9	.	.	.	.	9.666	0.39986	0.1141:0.226:0.0:0.6598	.	1222	Q86UQ4	ABCAD_HUMAN	L	1222	ENSP00000411096:F1222L	.	F	+	3	2	ABCA13	48283475	0.000000	0.05858	0.000000	0.03702	0.142000	0.21351	-0.583000	0.05807	-1.131000	0.02910	-0.251000	0.11542	TTC	ABCA13	-	NULL	ENSG00000179869		0.363	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	60	0.00	0	C	NM_152701		48312929	48312929	+1	no_errors	ENST00000435803	ensembl	human	known	69_37n	missense	43	31.75	20	SNP	0.000	A
ABCA13	154664	genome.wustl.edu	37	7	48319347	48319347	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:48319347C>T	ENST00000435803.1	+	18	8580	c.8556C>T	c.(8554-8556)ttC>ttT	p.F2852F		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2852					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						TTGAGATTTTCATTAAAGCAA	0.348																																						dbGAP											0													93.0	96.0	95.0					7																	48319347		1808	4079	5887	-	-	-	SO:0001819	synonymous_variant	0			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.8556C>T	7.37:g.48319347C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.F2852	ENST00000435803.1	37	c.8556	CCDS47584.1	7																																																																																			ABCA13	-	NULL	ENSG00000179869		0.348	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	56	0.00	0	C	NM_152701		48319347	48319347	+1	no_errors	ENST00000435803	ensembl	human	known	69_37n	silent	37	17.78	8	SNP	0.000	T
ABCA13	154664	genome.wustl.edu	37	7	48321036	48321036	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:48321036C>T	ENST00000435803.1	+	19	8847	c.8823C>T	c.(8821-8823)ctC>ctT	p.L2941L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2941					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						TACGTGTGCTCACCATCGTTG	0.468																																						dbGAP											0													107.0	108.0	108.0					7																	48321036		2031	4201	6232	-	-	-	SO:0001819	synonymous_variant	0			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.8823C>T	7.37:g.48321036C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L2941	ENST00000435803.1	37	c.8823	CCDS47584.1	7																																																																																			ABCA13	-	NULL	ENSG00000179869		0.468	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	110	0.00	0	C	NM_152701		48321036	48321036	+1	no_errors	ENST00000435803	ensembl	human	known	69_37n	silent	89	28.23	35	SNP	0.000	T
ABCA3	21	genome.wustl.edu	37	16	2331100	2331100	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:2331100C>T	ENST00000301732.5	-	28	4987	c.4287G>A	c.(4285-4287)ctG>ctA	p.L1429L	ABCA3_ENST00000382381.3_Silent_p.L1371L	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1429	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	CCTCCCCGGTCAGCATTTTGA	0.612																																						dbGAP											0													116.0	105.0	109.0					16																	2331100		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.4287G>A	16.37:g.2331100C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RU09|Q54A95|Q6P5P9|Q92473	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L1429	ENST00000301732.5	37	c.4287	CCDS10466.1	16																																																																																			ABCA3	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000167972		0.612	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA3	HGNC	protein_coding	OTTHUMT00000250784.2	88	0.00	0	C	NM_001089		2331100	2331100	-1	no_errors	ENST00000301732	ensembl	human	known	69_37n	silent	127	19.11	30	SNP	1.000	T
ABCA3	21	genome.wustl.edu	37	16	2335471	2335471	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:2335471G>C	ENST00000301732.5	-	23	4155	c.3455C>G	c.(3454-3456)tCc>tGc	p.S1152C	ABCA3_ENST00000382381.3_Missense_Mutation_p.S1094C	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1152					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	GATGAGGAAGGAGATGAGGTC	0.642																																						dbGAP											0													88.0	74.0	79.0					16																	2335471		2190	4294	6484	-	-	-	SO:0001583	missense	0			U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.3455C>G	16.37:g.2335471G>C	ENSP00000301732:p.Ser1152Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.S1152C	ENST00000301732.5	37	c.3455	CCDS10466.1	16	.	.	.	.	.	.	.	.	.	.	G	12.62	1.992721	0.35131	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	D	0.86769	-2.17	4.58	3.63	0.41609	.	0.363813	0.28841	N	0.013977	T	0.81545	0.4845	L	0.46157	1.445	0.80722	D	1	B;B	0.21147	0.052;0.02	B;B	0.30179	0.112;0.03	T	0.75491	-0.3299	10	0.38643	T	0.18	.	5.7571	0.18178	0.095:0.0:0.6166:0.2884	.	1156;1152	Q4LE27;Q99758	.;ABCA3_HUMAN	C	1152;1156	ENSP00000301732:S1152C	ENSP00000301732:S1152C	S	-	2	0	ABCA3	2275472	1.000000	0.71417	0.964000	0.40570	0.954000	0.61252	6.395000	0.73228	1.285000	0.44548	0.563000	0.77884	TCC	ABCA3	-	NULL	ENSG00000167972		0.642	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA3	HGNC	protein_coding	OTTHUMT00000250784.2	26	0.00	0	G	NM_001089		2335471	2335471	-1	no_errors	ENST00000301732	ensembl	human	known	69_37n	missense	63	27.59	24	SNP	1.000	C
ABCA3	21	genome.wustl.edu	37	16	2336768	2336768	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:2336768G>A	ENST00000301732.5	-	22	3905	c.3205C>T	c.(3205-3207)Cac>Tac	p.H1069Y	ABCA3_ENST00000382381.3_Missense_Mutation_p.H1011Y	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1069			H -> Q (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.H1069Y(1)		breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	ATGGAGGCGTGAGGCCCGCAC	0.622																																						dbGAP											1	Substitution - Missense(1)	ovary(1)											123.0	122.0	122.0					16																	2336768		2198	4300	6498	-	-	-	SO:0001583	missense	0			U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.3205C>T	16.37:g.2336768G>A	ENSP00000301732:p.His1069Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.H1069Y	ENST00000301732.5	37	c.3205	CCDS10466.1	16	.	.	.	.	.	.	.	.	.	.	G	8.014	0.758176	0.15846	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	D	0.86956	-2.19	4.5	2.29	0.28610	.	1.159090	0.06019	N	0.651037	T	0.75064	0.3799	N	0.08118	0	0.21697	N	0.999589	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.64457	-0.6403	10	0.59425	D	0.04	.	6.9728	0.24658	0.0:0.3028:0.4535:0.2437	.	1073;1069	Q4LE27;Q99758	.;ABCA3_HUMAN	Y	1069;1073	ENSP00000301732:H1069Y	ENSP00000301732:H1069Y	H	-	1	0	ABCA3	2276769	0.661000	0.27430	0.012000	0.15200	0.132000	0.20833	2.928000	0.48908	1.203000	0.43233	0.555000	0.69702	CAC	ABCA3	-	NULL	ENSG00000167972		0.622	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA3	HGNC	protein_coding	OTTHUMT00000250784.2	43	0.00	0	G	NM_001089		2336768	2336768	-1	no_errors	ENST00000301732	ensembl	human	known	69_37n	missense	77	16.30	15	SNP	0.032	A
ABCA4	24	genome.wustl.edu	37	1	94480237	94480237	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:94480237G>A	ENST00000370225.3	-	38	5408	c.5322C>T	c.(5320-5322)gtC>gtT	p.V1774V	ABCA4_ENST00000536513.1_Silent_p.V44V	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1774					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)	p.V1774V(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCATGGGAATGACCGCCCATC	0.478																																						dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											202.0	172.0	182.0					1																	94480237		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.5322C>T	1.37:g.94480237G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O15112|O60438|O60915|Q0QD48|Q4LE31	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt	p.V1774	ENST00000370225.3	37	c.5322	CCDS747.1	1																																																																																			ABCA4	-	tigrfam_Rim_ABC_transpt	ENSG00000198691		0.478	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA4	HGNC	protein_coding	OTTHUMT00000029320.1	50	0.00	0	G	NM_000350		94480237	94480237	-1	no_errors	ENST00000370225	ensembl	human	known	69_37n	silent	42	20.75	11	SNP	1.000	A
ABCA8	10351	genome.wustl.edu	37	17	66913593	66913593	+	Splice_Site	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:66913593C>T	ENST00000269080.2	-	15	2065		c.e15-1		ABCA8_ENST00000586539.1_Splice_Site|ABCA8_ENST00000430352.2_Splice_Site	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8						transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					ACTTTCCTGTCTGAAAAAGAA	0.373																																						dbGAP											0													66.0	75.0	72.0					17																	66913593		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.1928-1G>A	17.37:g.66913593C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3U3|C9JQE6|Q86WW0	Splice_Site	SNP	-	e15-1	ENST00000269080.2	37	c.2048-1	CCDS11680.1	17	.	.	.	.	.	.	.	.	.	.	C	11.68	1.710345	0.30322	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225	.	.	.	4.91	4.91	0.64330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2483	0.87034	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABCA8	64425188	1.000000	0.71417	0.994000	0.49952	0.032000	0.12392	6.893000	0.75649	2.554000	0.86153	0.549000	0.68633	.	ABCA8	-	-	ENSG00000141338		0.373	ABCA8-001	KNOWN	basic|CCDS	protein_coding	ABCA8	HGNC	protein_coding	OTTHUMT00000450172.1	43	0.00	0	C	NM_007168	Intron	66913593	66913593	-1	no_errors	ENST00000430352	ensembl	human	known	69_37n	splice_site	52	13.33	8	SNP	1.000	T
ABCA8	10351	genome.wustl.edu	37	17	66920856	66920856	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:66920856C>T	ENST00000269080.2	-	10	1565	c.1428G>A	c.(1426-1428)ggG>ggA	p.G476G	ABCA8_ENST00000586539.1_Silent_p.G476G|ABCA8_ENST00000430352.2_Silent_p.G476G	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	476					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TGGCTTCTTTCCCTTGGAATT	0.473																																						dbGAP											0													117.0	116.0	117.0					17																	66920856		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.1428G>A	17.37:g.66920856C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	pfam_ABC_transporter-like,pfam_Ribosome_biogen_GTPase_RsgA,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.E124K	ENST00000269080.2	37	c.370	CCDS11680.1	17																																																																																			ABCA8	-	NULL	ENSG00000141338		0.473	ABCA8-001	KNOWN	basic|CCDS	protein_coding	ABCA8	HGNC	protein_coding	OTTHUMT00000450172.1	136	0.00	0	C	NM_007168		66920856	66920856	-1	no_start_codon:pseudogene:no_stop_codon	ENST00000589533	ensembl	human	known	69_37n	missense	134	20.24	34	SNP	0.794	T
ABCA6	23460	genome.wustl.edu	37	17	67129840	67129840	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:67129840C>G	ENST00000284425.2	-	6	907	c.733G>C	c.(733-735)Gag>Cag	p.E245Q		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	245					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TTTTTTCTCTCTTTTGTTACA	0.299																																						dbGAP											0													70.0	72.0	71.0					17																	67129840		2202	4300	6502	-	-	-	SO:0001583	missense	0			U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.733G>C	17.37:g.67129840C>G	ENSP00000284425:p.Glu245Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.E245Q	ENST00000284425.2	37	c.733	CCDS11683.1	17	.	.	.	.	.	.	.	.	.	.	C	17.41	3.382699	0.61845	.	.	ENSG00000154262	ENST00000284425	D	0.94650	-3.48	5.61	5.61	0.85477	.	0.000000	0.53938	D	0.000042	D	0.97451	0.9166	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.97729	1.0201	10	0.72032	D	0.01	.	15.4919	0.75611	0.0:1.0:0.0:0.0	.	245	Q8N139	ABCA6_HUMAN	Q	245	ENSP00000284425:E245Q	ENSP00000284425:E245Q	E	-	1	0	ABCA6	64641435	1.000000	0.71417	1.000000	0.80357	0.318000	0.28184	3.245000	0.51407	2.803000	0.96430	0.655000	0.94253	GAG	ABCA6	-	NULL	ENSG00000154262		0.299	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA6	HGNC	protein_coding	OTTHUMT00000450463.1	140	0.00	0	C	NM_080284		67129840	67129840	-1	no_errors	ENST00000284425	ensembl	human	known	69_37n	missense	165	17.09	34	SNP	1.000	G
ABCA5	23461	genome.wustl.edu	37	17	67310505	67310505	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:67310505G>A	ENST00000392676.3	-	2	116	c.52C>T	c.(52-54)Cta>Tta	p.L18L	ABCA5_ENST00000392677.2_Silent_p.L18L|ABCA5_ENST00000588877.1_Silent_p.L18L|ABCA5_ENST00000589609.1_5'Flank			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	18					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	TTCTTCAGTAGAAGTGTTCTG	0.343																																						dbGAP											0													123.0	125.0	124.0					17																	67310505		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.52C>T	17.37:g.67310505G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L18	ENST00000392676.3	37	c.52	CCDS11685.1	17																																																																																			ABCA5	-	NULL	ENSG00000154265		0.343	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABCA5	HGNC	protein_coding	OTTHUMT00000450654.1	109	0.00	0	G	NM_018672		67310505	67310505	-1	no_errors	ENST00000392677	ensembl	human	known	69_37n	silent	131	14.29	22	SNP	0.014	A
ABCB1	5243	genome.wustl.edu	37	7	87179302	87179302	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:87179302C>T	ENST00000265724.3	-	14	1836	c.1419G>A	c.(1417-1419)gtG>gtA	p.V473V	ABCB1_ENST00000543898.1_Silent_p.V409V	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	473	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	GTTCCTGACTCACCACACCAA	0.418																																						dbGAP											0													172.0	157.0	162.0					7																	87179302		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.1419G>A	7.37:g.87179302C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K294|B5AK60|Q12755|Q14812	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.V473	ENST00000265724.3	37	c.1419	CCDS5608.1	7																																																																																			ABCB1	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000085563		0.418	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB1	HGNC	protein_coding	OTTHUMT00000335444.2	125	0.00	0	C	NM_000927		87179302	87179302	-1	no_errors	ENST00000265724	ensembl	human	known	69_37n	silent	110	16.67	22	SNP	1.000	T
ABCB10	23456	genome.wustl.edu	37	1	229683295	229683295	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:229683295G>C	ENST00000344517.4	-	3	914	c.872C>G	c.(871-873)tCa>tGa	p.S291*	RNA5SP78_ENST00000364622.1_RNA	NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	291	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				GAGCCCATCTGAGAGGTTTTC	0.567																																						dbGAP											0													46.0	51.0	49.0					1																	229683295		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U18237	CCDS1580.1	1q32	2012-03-14			ENSG00000135776	ENSG00000135776		"""ATP binding cassette transporters / subfamily B"""	41	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family B member 10, mitochondrial"", ""ATP-binding cassette transporter 10"", ""ABC transporter 10 protein"", ""mitochondrial ATP-binding cassette 2"""	605454				7766993	Standard	NM_012089		Approved	EST20237, M-ABC2, MTABC2	uc001htp.4	Q9NRK6	OTTHUMG00000039471	ENST00000344517.4:c.872C>G	1.37:g.229683295G>C	ENSP00000355637:p.Ser291*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13040|Q6P1Q8|Q9H3V0	Nonsense_Mutation	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.S291*	ENST00000344517.4	37	c.872	CCDS1580.1	1	.	.	.	.	.	.	.	.	.	.	G	38	6.920727	0.97936	.	.	ENSG00000135776	ENST00000344517	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-12.5244	19.4659	0.94939	0.0:0.0:1.0:0.0	.	.	.	.	X	291	.	ENSP00000355637:S291X	S	-	2	0	ABCB10	227749918	1.000000	0.71417	0.942000	0.38095	0.986000	0.74619	9.441000	0.97557	2.676000	0.91093	0.561000	0.74099	TCA	ABCB10	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1	ENSG00000135776		0.567	ABCB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB10	HGNC	protein_coding	OTTHUMT00000095240.1	69	0.00	0	G	NM_012089		229683295	229683295	-1	no_errors	ENST00000344517	ensembl	human	known	69_37n	nonsense	78	10.34	9	SNP	1.000	C
ABCB10	23456	genome.wustl.edu	37	1	229683354	229683354	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:229683354C>G	ENST00000344517.4	-	3	855	c.813G>C	c.(811-813)ttG>ttC	p.L271F	RNA5SP78_ENST00000364622.1_RNA	NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	271	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				GGCGGTTAATCAATTCTCCTG	0.532																																						dbGAP											0													58.0	64.0	62.0					1																	229683354		2203	4300	6503	-	-	-	SO:0001583	missense	0			U18237	CCDS1580.1	1q32	2012-03-14			ENSG00000135776	ENSG00000135776		"""ATP binding cassette transporters / subfamily B"""	41	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family B member 10, mitochondrial"", ""ATP-binding cassette transporter 10"", ""ABC transporter 10 protein"", ""mitochondrial ATP-binding cassette 2"""	605454				7766993	Standard	NM_012089		Approved	EST20237, M-ABC2, MTABC2	uc001htp.4	Q9NRK6	OTTHUMG00000039471	ENST00000344517.4:c.813G>C	1.37:g.229683354C>G	ENSP00000355637:p.Leu271Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13040|Q6P1Q8|Q9H3V0	Missense_Mutation	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.L271F	ENST00000344517.4	37	c.813	CCDS1580.1	1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.543072	0.65198	.	.	ENSG00000135776	ENST00000344517	D	0.93811	-3.29	5.37	2.38	0.29361	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.96531	0.8868	M	0.91872	3.25	0.58432	D	0.999996	D	0.64830	0.994	D	0.69479	0.964	D	0.95317	0.8417	10	0.72032	D	0.01	-15.4463	9.2097	0.37311	0.0:0.7446:0.1205:0.1349	.	271	Q9NRK6	ABCBA_HUMAN	F	271	ENSP00000355637:L271F	ENSP00000355637:L271F	L	-	3	2	ABCB10	227749977	1.000000	0.71417	0.281000	0.24762	0.994000	0.84299	0.718000	0.25866	0.304000	0.22809	0.561000	0.74099	TTG	ABCB10	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1	ENSG00000135776		0.532	ABCB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB10	HGNC	protein_coding	OTTHUMT00000095240.1	94	0.00	0	C	NM_012089		229683354	229683354	-1	no_errors	ENST00000344517	ensembl	human	known	69_37n	missense	91	15.74	17	SNP	0.999	G
ABCB11	8647	genome.wustl.edu	37	2	169814582	169814582	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:169814582C>T	ENST00000263817.6	-	19	2359	c.2235G>A	c.(2233-2235)ctG>ctA	p.L745L		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	745					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	CACTGAATTTCAGAATCCTCC	0.473																																						dbGAP											0													79.0	77.0	78.0					2																	169814582		1916	4121	6037	-	-	-	SO:0001819	synonymous_variant	0			AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.2235G>A	2.37:g.169814582C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53TL2|Q9UNB2	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.L745	ENST00000263817.6	37	c.2235	CCDS46444.1	2																																																																																			ABCB11	-	superfamily_ABC_transptrTM_dom_typ1	ENSG00000073734		0.473	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB11	HGNC	protein_coding	OTTHUMT00000333616.2	61	0.00	0	C	NM_003742		169814582	169814582	-1	no_errors	ENST00000263817	ensembl	human	known	69_37n	silent	43	24.56	14	SNP	1.000	T
ABCB11	8647	genome.wustl.edu	37	2	169825950	169825950	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:169825950C>T	ENST00000263817.6	-	16	2045	c.1921G>A	c.(1921-1923)Gaa>Aaa	p.E641K		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	641	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	AGTAATTCTTCATGGGTCCCT	0.443																																						dbGAP											0													127.0	118.0	121.0					2																	169825950		1909	4130	6039	-	-	-	SO:0001583	missense	0			AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.1921G>A	2.37:g.169825950C>T	ENSP00000263817:p.Glu641Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53TL2|Q9UNB2	Missense_Mutation	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.E641K	ENST00000263817.6	37	c.1921	CCDS46444.1	2	.	.	.	.	.	.	.	.	.	.	C	10.97	1.500255	0.26861	.	.	ENSG00000073734	ENST00000263817	T	0.72835	-0.69	5.5	3.49	0.39957	ABC transporter-like (1);	0.215417	0.48286	D	0.000184	T	0.59128	0.2171	L	0.39514	1.22	0.41312	D	0.987114	B;B	0.10296	0.003;0.001	B;B	0.09377	0.004;0.002	T	0.50939	-0.8768	10	0.30078	T	0.28	.	10.7214	0.46042	0.0:0.7945:0.129:0.0765	.	83;641	B4DZQ8;O95342	.;ABCBB_HUMAN	K	641	ENSP00000263817:E641K	ENSP00000263817:E641K	E	-	1	0	ABCB11	169534196	0.989000	0.36119	0.981000	0.43875	0.431000	0.31685	1.211000	0.32382	0.539000	0.28788	-0.291000	0.09656	GAA	ABCB11	-	pfscan_ABC_transporter-like	ENSG00000073734		0.443	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB11	HGNC	protein_coding	OTTHUMT00000333616.2	99	0.00	0	C	NM_003742		169825950	169825950	-1	no_errors	ENST00000263817	ensembl	human	known	69_37n	missense	116	20.00	29	SNP	0.997	T
ABCB6	10058	genome.wustl.edu	37	2	220077977	220077977	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:220077977G>A	ENST00000265316.3	-	12	2107	c.1791C>T	c.(1789-1791)ttC>ttT	p.F597F	ABCB6_ENST00000439002.2_Silent_p.F551F	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)	597	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|porphyrin-containing compound biosynthetic process (GO:0006779)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial envelope (GO:0005740)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|efflux transmembrane transporter activity (GO:0015562)|heme binding (GO:0020037)|heme transporter activity (GO:0015232)|heme-transporting ATPase activity (GO:0015439)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGGCATAGCTGAAGTGCACGT	0.537																																						dbGAP											0													125.0	131.0	129.0					2																	220077977		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF070598	CCDS2436.1	2q36	2014-08-27	2014-08-27		ENSG00000115657	ENSG00000115657		"""ATP binding cassette transporters / subfamily B"""	47	protein-coding gene	gene with protein product	"""ATP-binding cassette half-transporter"""	605452	"""ATP-binding cassette, sub-family B (MDR/TAP), member 6"""			8894702, 9110174	Standard	NM_005689		Approved	EST45597, umat, MTABC3	uc002vkc.2	Q9NP58	OTTHUMG00000133131	ENST00000265316.3:c.1791C>T	2.37:g.220077977G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O75542|Q49A66|Q59GQ5|Q6ZME6|Q96ME8|Q9HAQ6|Q9HAQ7	Missense_Mutation	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.S445L	ENST00000265316.3	37	c.1334	CCDS2436.1	2	.	.	.	.	.	.	.	.	.	.	G	1.780	-0.482063	0.04383	.	.	ENSG00000115657	ENST00000295750	.	.	.	4.7	4.7	0.59300	.	.	.	.	.	T	0.63686	0.2532	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61855	-0.6977	4	.	.	.	-19.4067	11.9809	0.53119	0.0851:0.0:0.9149:0.0	.	.	.	.	L	445	.	.	S	-	2	0	ABCB6	219786221	1.000000	0.71417	1.000000	0.80357	0.214000	0.24535	3.339000	0.52135	2.427000	0.82271	0.609000	0.83330	TCA	ABCB6	-	pfscan_ABC_transporter-like	ENSG00000115657		0.537	ABCB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB6	HGNC	protein_coding	OTTHUMT00000256820.2	90	0.00	0	G	NM_005689		220077977	220077977	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000295750	ensembl	human	novel	69_37n	missense	98	20.97	26	SNP	1.000	A
ABCB6	10058	genome.wustl.edu	37	2	220078588	220078588	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:220078588G>C	ENST00000265316.3	-	9	1854	c.1538C>G	c.(1537-1539)tCc>tGc	p.S513C	ABCB6_ENST00000439002.2_Missense_Mutation_p.S467C	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)	513	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|porphyrin-containing compound biosynthetic process (GO:0006779)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial envelope (GO:0005740)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|efflux transmembrane transporter activity (GO:0015562)|heme binding (GO:0020037)|heme transporter activity (GO:0015232)|heme-transporting ATPase activity (GO:0015439)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCAAAGCAGGGAGCCGGCGAG	0.557																																						dbGAP											0													113.0	135.0	128.0					2																	220078588		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF070598	CCDS2436.1	2q36	2014-08-27	2014-08-27		ENSG00000115657	ENSG00000115657		"""ATP binding cassette transporters / subfamily B"""	47	protein-coding gene	gene with protein product	"""ATP-binding cassette half-transporter"""	605452	"""ATP-binding cassette, sub-family B (MDR/TAP), member 6"""			8894702, 9110174	Standard	NM_005689		Approved	EST45597, umat, MTABC3	uc002vkc.2	Q9NP58	OTTHUMG00000133131	ENST00000265316.3:c.1538C>G	2.37:g.220078588G>C	ENSP00000265316:p.Ser513Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	O75542|Q49A66|Q59GQ5|Q6ZME6|Q96ME8|Q9HAQ6|Q9HAQ7	Missense_Mutation	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.S513C	ENST00000265316.3	37	c.1538	CCDS2436.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.02|19.02	3.744979|3.744979	0.69418|0.69418	.|.	.|.	ENSG00000115657|ENSG00000115657	ENST00000295750|ENST00000265316;ENST00000439002	.|D;D	.|0.89123	.|-2.47;-2.47	5.02|5.02	5.02|5.02	0.67125|0.67125	.|ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.89914|0.89914	0.6853|0.6853	L|L	0.43646|0.43646	1.37|1.37	0.80722|0.80722	D|D	1|1	.|B;P	.|0.40066	.|0.36;0.701	.|B;P	.|0.49637	.|0.332;0.617	D|D	0.89596|0.89596	0.3831|0.3831	5|10	.|0.44086	.|T	.|0.13	-20.1978|-20.1978	17.9575|17.9575	0.89074|0.89074	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|467;513	.|Q9NP58-4;Q9NP58	.|.;ABCB6_HUMAN	A|C	361|513;467	.|ENSP00000265316:S513C;ENSP00000394333:S467C	.|ENSP00000265316:S513C	P|S	-|-	1|2	0|0	ABCB6|ABCB6	219786832|219786832	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	9.684000|9.684000	0.98659|0.98659	2.331000|2.331000	0.79229|0.79229	0.591000|0.591000	0.81541|0.81541	CCC|TCC	ABCB6	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1	ENSG00000115657		0.557	ABCB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB6	HGNC	protein_coding	OTTHUMT00000256820.2	37	0.00	0	G	NM_005689		220078588	220078588	-1	no_errors	ENST00000265316	ensembl	human	known	69_37n	missense	46	17.86	10	SNP	1.000	C
ABCC11	85320	genome.wustl.edu	37	16	48221246	48221246	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:48221246G>C	ENST00000394747.1	-	20	3148	c.2799C>G	c.(2797-2799)ctC>ctG	p.L933L	ABCC11_ENST00000356608.2_Silent_p.L933L|ABCC11_ENST00000394748.1_Silent_p.L933L|ABCC11_ENST00000537808.1_3'UTR|ABCC11_ENST00000353782.5_Silent_p.L933L|ABCC11_ENST00000565329.1_5'UTR	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	933	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	AGATGGGCAAGAGCTGGTCCA	0.522																																						dbGAP											0													83.0	70.0	74.0					16																	48221246		2201	4300	6501	-	-	-	SO:0001819	synonymous_variant	0			AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.2799C>G	16.37:g.48221246G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TDJ0|Q96JA6|Q9BX80	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.L933	ENST00000394747.1	37	c.2799	CCDS10732.1	16																																																																																			ABCC11	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1	ENSG00000121270		0.522	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ABCC11	HGNC	protein_coding	OTTHUMT00000429984.1	59	0.00	0	G	NM_032583		48221246	48221246	-1	no_errors	ENST00000356608	ensembl	human	known	69_37n	silent	32	36.00	18	SNP	0.000	C
ABCC4	10257	genome.wustl.edu	37	13	95696656	95696656	+	Missense_Mutation	SNP	T	T	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr13:95696656T>C	ENST00000376887.4	-	28	3607	c.3493A>G	c.(3493-3495)Aaa>Gaa	p.K1165E	ABCC4_ENST00000412704.1_Missense_Mutation_p.K1118E	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	1165	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	GTATCCATTTTACCAGGAAGA	0.393																																						dbGAP											0													77.0	73.0	75.0					13																	95696656		2202	4300	6502	-	-	-	SO:0001583	missense	0			U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.3493A>G	13.37:g.95696656T>C	ENSP00000366084:p.Lys1165Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	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,prints_CysFib_conduc_TM	p.K1165E	ENST00000376887.4	37	c.3493	CCDS9474.1	13	.	.	.	.	.	.	.	.	.	.	T	26.6	4.751216	0.89753	.	.	ENSG00000125257	ENST00000412704;ENST00000376887	D;D	0.90385	-2.66;-2.66	5.67	5.67	0.87782	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.89781	0.6814	L	0.39898	1.24	0.80722	D	1	P;P	0.41159	0.521;0.74	P;P	0.46339	0.452;0.513	D	0.90574	0.4524	10	0.62326	D	0.03	.	15.9192	0.79547	0.0:0.0:0.0:1.0	.	1118;1165	O15439-2;O15439	.;MRP4_HUMAN	E	1118;1165	ENSP00000388657:K1118E;ENSP00000366084:K1165E	ENSP00000366084:K1165E	K	-	1	0	ABCC4	94494657	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.698000	0.84413	2.164000	0.68074	0.533000	0.62120	AAA	ABCC4	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000125257		0.393	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC4	HGNC	protein_coding	OTTHUMT00000045478.2	57	0.00	0	T	NM_005845		95696656	95696656	-1	no_errors	ENST00000376887	ensembl	human	known	69_37n	missense	43	18.87	10	SNP	0.999	C
ABCC6	368	genome.wustl.edu	37	16	16284023	16284023	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:16284023G>A	ENST00000205557.7	-	12	1662	c.1633C>T	c.(1633-1635)Ctg>Ttg	p.L545L	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	545	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				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)	GACGTCACCAGAAATGTAGAC	0.632																																						dbGAP											0													70.0	70.0	70.0					16																	16284023		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			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.1633C>T	16.37:g.16284023G>A		Somatic		WXS	Illumina GAIIx	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.L545	ENST00000205557.7	37	c.1633	CCDS10568.1	16																																																																																			ABCC6	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc	ENSG00000091262		0.632	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC6	HGNC	protein_coding	OTTHUMT00000252232.2	40	0.00	0	G			16284023	16284023	-1	no_errors	ENST00000205557	ensembl	human	known	69_37n	silent	36	35.71	20	SNP	1.000	A
ABCC6	368	genome.wustl.edu	37	16	16315481	16315481	+	Intron	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:16315481C>A	ENST00000205557.7	-	2	249				ABCC6_ENST00000574094.1_5'UTR|RP11-517A5.7_ENST00000574883.1_RNA|ABCC6_ENST00000575728.1_Nonsense_Mutation_p.E82*	NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6						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)	TTGCCTGGTTCCAGGCTCCCA	0.562																																						dbGAP											0													23.0	23.0	23.0					16																	16315481		2197	4300	6497	-	-	-	SO:0001627	intron_variant	0			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.219+24G>T	16.37:g.16315481C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Nonsense_Mutation	SNP	NULL	p.E82*	ENST00000205557.7	37	c.244	CCDS10568.1	16	.	.	.	.	.	.	.	.	.	.	.	14.85	2.659029	0.47467	.	.	ENSG00000091262	ENST00000546056	.	.	.	3.31	-2.59	0.06209	.	.	.	.	.	.	.	.	.	.	.	0.50467	D	0.999876	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	4.0343	0.09722	0.5745:0.2476:0.0:0.1779	.	.	.	.	X	82	.	ENSP00000441745:E82X	E	-	1	0	ABCC6	16222982	0.000000	0.05858	0.018000	0.16275	0.379000	0.30106	-0.229000	0.09098	-0.434000	0.07275	0.485000	0.47835	GAA	ABCC6	-	NULL	ENSG00000091262		0.562	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC6	HGNC	protein_coding	OTTHUMT00000252232.2	63	0.00	0	C			16315481	16315481	-1	no_errors	ENST00000575728	ensembl	human	putative	69_37n	nonsense	43	21.82	12	SNP	0.040	A
ABCC8	6833	genome.wustl.edu	37	11	17416823	17416823	+	Splice_Site	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:17416823C>T	ENST00000389817.3	-	36	4376		c.e36-1		ABCC8_ENST00000302539.4_Splice_Site			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8						carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	CAGGTTAAATCTGGAAGTGGC	0.607																																						dbGAP											0													36.0	30.0	32.0					11																	17416823		2200	4293	6493	-	-	-	SO:0001630	splice_region_variant	0			L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.4308-1G>A	11.37:g.17416823C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMX8|E3UYX6|O75948|Q16583	Splice_Site	SNP	-	e36-1	ENST00000389817.3	37	c.4311-1	CCDS31437.1	11	.	.	.	.	.	.	.	.	.	.	C	22.5	4.291804	0.80914	.	.	ENSG00000006071	ENST00000389817;ENST00000302539	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5612	0.91101	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABCC8	17373399	1.000000	0.71417	0.999000	0.59377	0.947000	0.59692	7.818000	0.86416	2.392000	0.81423	0.555000	0.69702	.	ABCC8	-	-	ENSG00000006071		0.607	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABCC8	HGNC	protein_coding	OTTHUMT00000389093.1	25	0.00	0	C	NM_000352	Intron	17416823	17416823	-1	no_errors	ENST00000302539	ensembl	human	known	69_37n	splice_site	37	22.92	11	SNP	1.000	T
ABCC8	6833	genome.wustl.edu	37	11	17432137	17432137	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:17432137C>G	ENST00000389817.3	-	22	2688	c.2620G>C	c.(2620-2622)Gag>Cag	p.E874Q	ABCC8_ENST00000302539.4_Missense_Mutation_p.E875Q			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	874	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	CGGAGCAGCTCAAGGATGCCG	0.577																																						dbGAP											0													144.0	128.0	133.0					11																	17432137		2200	4293	6493	-	-	-	SO:0001583	missense	0			L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.2620G>C	11.37:g.17432137C>G	ENSP00000374467:p.Glu874Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.E875Q	ENST00000389817.3	37	c.2623	CCDS31437.1	11	.	.	.	.	.	.	.	.	.	.	C	14.40	2.523992	0.44866	.	.	ENSG00000006071	ENST00000389817;ENST00000302539;ENST00000379493	D;D	0.85171	-1.95;-1.95	6.17	6.17	0.99709	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.057820	0.64402	D	0.000001	T	0.75686	0.3883	L	0.27944	0.81	0.40886	D	0.984032	B	0.13594	0.008	B	0.17722	0.019	T	0.69091	-0.5237	10	0.34782	T	0.22	.	9.6433	0.39853	0.0:0.8857:0.0:0.1143	.	874	Q09428	ABCC8_HUMAN	Q	874;875;878	ENSP00000374467:E874Q;ENSP00000303960:E875Q	ENSP00000303960:E875Q	E	-	1	0	ABCC8	17388713	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.696000	0.61774	2.941000	0.99782	0.655000	0.94253	GAG	ABCC8	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000006071		0.577	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABCC8	HGNC	protein_coding	OTTHUMT00000389093.1	67	0.00	0	C	NM_000352		17432137	17432137	-1	no_errors	ENST00000302539	ensembl	human	known	69_37n	missense	110	21.99	31	SNP	0.997	G
ABCD4	5826	genome.wustl.edu	37	14	74764731	74764731	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:74764731C>G	ENST00000356924.4	-	4	470	c.327G>C	c.(325-327)gtG>gtC	p.V109V	ABCD4_ENST00000557588.1_Silent_p.V109V|ABCD4_ENST00000557554.1_Intron|ABCD4_ENST00000298816.7_Silent_p.V22V	NM_005050.3	NP_005041.1	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D (ALD), member 4	109	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cobalamin metabolic process (GO:0009235)|transmembrane transport (GO:0055085)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		TCCTCCAGCTCACATACAGCA	0.557																																						dbGAP											0													99.0	86.0	91.0					14																	74764731		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF009746	CCDS9828.1	14q24	2012-03-14			ENSG00000119688	ENSG00000119688		"""ATP binding cassette transporters / subfamily D"""	68	protein-coding gene	gene with protein product		603214		PXMP1L		9266848, 9302272	Standard	NR_003256		Approved	PMP69, P70R, EST352188	uc001xpr.2	O14678	OTTHUMG00000171207	ENST00000356924.4:c.327G>C	14.37:g.74764731C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5L7|Q6IAQ0|Q96E75	Nonstop_Mutation	SNP	pfam_ABC_Ald_N,superfamily_ABC_transptrTM_dom_typ1	p.*69S	ENST00000356924.4	37	c.206	CCDS9828.1	14	.	.	.	.	.	.	.	.	.	.	C	10.09	1.253857	0.22965	.	.	ENSG00000119688	ENST00000556971	.	.	.	5.63	4.69	0.59074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0321	0.80585	0.0:0.8657:0.1343:0.0	.	.	.	.	S	69	.	.	X	-	2	2	ABCD4	73834484	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.615000	0.24329	2.642000	0.89623	0.655000	0.94253	TGA	ABCD4	-	pfam_ABC_Ald_N,superfamily_ABC_transptrTM_dom_typ1	ENSG00000119688		0.557	ABCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCD4	HGNC	protein_coding	OTTHUMT00000314382.1	65	0.00	0	C	NM_005050		74764731	74764731	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000556971	ensembl	human	putative	69_37n	nonstop	61	29.89	26	SNP	1.000	G
ABCE1	6059	genome.wustl.edu	37	4	146048720	146048720	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:146048720G>T	ENST00000296577.4	+	18	2310	c.1795G>T	c.(1795-1797)Gat>Tat	p.D599Y	OTUD4_ENST00000455611.2_Intron	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	599					negative regulation of catalytic activity (GO:0043086)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|iron-sulfur cluster binding (GO:0051536)|ribonuclease inhibitor activity (GO:0008428)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					TTTCTTGGATGATTAGACTGA	0.313																																						dbGAP											0													108.0	112.0	110.0					4																	146048720		2203	4300	6503	-	-	-	SO:0001583	missense	0			X74987	CCDS34071.1	4q31	2012-03-14			ENSG00000164163	ENSG00000164163		"""ATP binding cassette transporters / subfamily E"""	69	protein-coding gene	gene with protein product		601213		RNASEL1, RNASELI, RNS4I		7539425	Standard	NM_002940		Approved	RLI, OABP	uc003ijy.3	P61221	OTTHUMG00000161478	ENST00000296577.4:c.1795G>T	4.37:g.146048720G>T	ENSP00000296577:p.Asp599Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	O88793|Q13181|Q13864|Q6NR76|Q96AL0|Q96B10|Q99K66	Missense_Mutation	SNP	pfam_ABC_transporter-like,pfam_RNaseL-inhib_metal-bd_dom,pfam_4Fe4S-bd_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,prints_ABC_E	p.D599Y	ENST00000296577.4	37	c.1795	CCDS34071.1	4	.	.	.	.	.	.	.	.	.	.	G	23.5	4.419708	0.83559	.	.	ENSG00000164163	ENST00000296577	D	0.94758	-3.51	5.24	5.24	0.73138	.	0.045473	0.85682	D	0.000000	D	0.97492	0.9179	M	0.91196	3.185	0.80722	D	1	D	0.63880	0.993	P	0.58577	0.841	D	0.98252	1.0494	10	0.87932	D	0	-1.4995	19.1953	0.93686	0.0:0.0:1.0:0.0	.	599	P61221	ABCE1_HUMAN	Y	599	ENSP00000296577:D599Y	ENSP00000296577:D599Y	D	+	1	0	ABCE1	146268170	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	9.374000	0.97172	2.614000	0.88457	0.650000	0.86243	GAT	ABCE1	-	NULL	ENSG00000164163		0.313	ABCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCE1	HGNC	protein_coding	OTTHUMT00000365104.1	161	0.00	0	G	NM_002940		146048720	146048720	+1	no_errors	ENST00000296577	ensembl	human	known	69_37n	missense	83	20.19	21	SNP	1.000	T
ABCG1	9619	genome.wustl.edu	37	21	43691253	43691253	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr21:43691253C>T	ENST00000361802.2	+	3	505	c.360C>T	c.(358-360)tcC>tcT	p.S120S	ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000347800.2_Silent_p.S117S|ABCG1_ENST00000398437.1_Silent_p.S266S|ABCG1_ENST00000398457.2_Silent_p.S122S|ABCG1_ENST00000340588.4_Silent_p.S228S|ABCG1_ENST00000343687.3_Silent_p.S131S|ABCG1_ENST00000398449.3_Silent_p.S120S	NM_004915.3	NP_004906.3	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	120	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				amyloid precursor protein catabolic process (GO:0042987)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|detection of hormone stimulus (GO:0009720)|glycoprotein transport (GO:0034436)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of cholesterol efflux (GO:0010875)|regulation of cholesterol esterification (GO:0010872)|regulation of transcription, DNA-templated (GO:0006355)|response to high density lipoprotein particle (GO:0055099)|response to lipid (GO:0033993)|response to organic substance (GO:0010033)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|glycoprotein transporter activity (GO:0034437)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sterol-transporting ATPase activity (GO:0034041)|toxin transporter activity (GO:0019534)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	TGGGTCCTTCCGGGGCCGGGA	0.542																																						dbGAP											0													97.0	97.0	97.0					21																	43691253		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U34919	CCDS13681.1, CCDS13682.1, CCDS13683.1, CCDS42937.1, CCDS42938.1	21q22.3	2012-03-14			ENSG00000160179	ENSG00000160179		"""ATP binding cassette transporters / subfamily G"""	73	protein-coding gene	gene with protein product	"""ATP-binding cassette transporter 8"""	603076				8659545, 16870176	Standard	NM_016818		Approved	ABC8	uc002zaq.3	P45844	OTTHUMG00000086791	ENST00000361802.2:c.360C>T	21.37:g.43691253C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4	Silent	SNP	pfam_ABC_2_trans,pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Pigment_permease	p.S266	ENST00000361802.2	37	c.798	CCDS13682.1	21																																																																																			ABCG1	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Pigment_permease	ENSG00000160179		0.542	ABCG1-006	KNOWN	basic|CCDS	protein_coding	ABCG1	HGNC	protein_coding	OTTHUMT00000195318.2	110	0.00	0	C	NM_207174		43691253	43691253	+1	no_errors	ENST00000398437	ensembl	human	known	69_37n	silent	90	26.83	33	SNP	0.001	T
ABCG4	64137	genome.wustl.edu	37	11	119029033	119029033	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:119029033C>T	ENST00000449422.2	+	10	1346	c.1158C>T	c.(1156-1158)ctC>ctT	p.L386L	ABCG4_ENST00000531739.1_Silent_p.L386L|ABCG4_ENST00000307417.3_Silent_p.L386L|AP002956.1_ENST00000599663.1_5'Flank	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	386	ABC transmembrane type-2.				cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.L386L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TGTCCATCCTCAGGGACACGG	0.582																																						dbGAP											1	Substitution - coding silent(1)	lung(1)											198.0	179.0	185.0					11																	119029033		2200	4295	6495	-	-	-	SO:0001819	synonymous_variant	0			AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"""ATP binding cassette transporters / subfamily G"""	13884	protein-coding gene	gene with protein product	"""putative ABC transporter"", ""ATP-binding cassette, subfamily G, member 4"""	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.1158C>T	11.37:g.119029033C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Silent	SNP	pfam_ABC_2_trans,pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L386	ENST00000449422.2	37	c.1158	CCDS8415.1	11																																																																																			ABCG4	-	pfam_ABC_2_trans	ENSG00000172350		0.582	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ABCG4	HGNC	protein_coding	OTTHUMT00000388215.1	57	0.00	0	C	NM_022169		119029033	119029033	+1	no_errors	ENST00000307417	ensembl	human	known	69_37n	silent	62	26.19	22	SNP	1.000	T
ABCG8	64241	genome.wustl.edu	37	2	44073413	44073413	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:44073413G>A	ENST00000272286.2	+	3	375	c.285G>A	c.(283-285)gtG>gtA	p.V95V		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	95	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	GCTTCAAAGTGAGAAGTGGGC	0.527																																						dbGAP											0													74.0	69.0	70.0					2																	44073413		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"""ATP binding cassette transporters / subfamily G"""	13887	protein-coding gene	gene with protein product	"""gallbladder disease 4"", ""sterolin 2"""	605460	"""ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"""			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.285G>A	2.37:g.44073413G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53QN8	Silent	SNP	pfam_ABC_2_trans,pfam_ABC_transporter-like,pfscan_ABC_transporter-like	p.V95	ENST00000272286.2	37	c.285	CCDS1815.1	2																																																																																			ABCG8	-	pfscan_ABC_transporter-like	ENSG00000143921		0.527	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCG8	HGNC	protein_coding	OTTHUMT00000250671.1	40	0.00	0	G	NM_022437		44073413	44073413	+1	no_errors	ENST00000272286	ensembl	human	known	69_37n	silent	57	16.18	11	SNP	0.900	A
ABHD12	26090	genome.wustl.edu	37	20	25295604	25295604	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:25295604C>T	ENST00000339157.5	-	6	848	c.576G>A	c.(574-576)gtG>gtA	p.V192V	ABHD12_ENST00000376542.3_Silent_p.V192V	NM_001042472.2	NP_001035937.1	Q8N2K0	ABD12_HUMAN	abhydrolase domain containing 12	192					adult walking behavior (GO:0007628)|phosphatidylserine catabolic process (GO:0006660)|response to auditory stimulus (GO:0010996)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)	acylglycerol lipase activity (GO:0047372)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	12						GGGAACTCAGCACCTGTAAAG	0.448																																						dbGAP											0													149.0	132.0	138.0					20																	25295604		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL117442	CCDS13172.1, CCDS42857.1	20p11.21	2007-04-24	2006-03-10	2006-03-10	ENSG00000100997	ENSG00000100997		"""Abhydrolase domain containing"""	15868	protein-coding gene	gene with protein product		613599	"""chromosome 20 open reading frame 22"""	C20orf22			Standard	NM_015600		Approved	DKFZP434P106, dJ965G21.2, BEM46L2, ABHD12A	uc002wuq.3	Q8N2K0	OTTHUMG00000032121	ENST00000339157.5:c.576G>A	20.37:g.25295604C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NED4|A6NJ90|A8K450|B4DE71|Q5T710|Q5T711|Q96CR1|Q9BX05|Q9NPX7|Q9UFV6	Silent	SNP	pfam_AB_hydrolase_1,pfam_AB_hydrolase_3	p.V192	ENST00000339157.5	37	c.576	CCDS42857.1	20																																																																																			ABHD12	-	pfam_AB_hydrolase_3	ENSG00000100997		0.448	ABHD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD12	HGNC	protein_coding	OTTHUMT00000078423.2	90	0.00	0	C	NM_015600		25295604	25295604	-1	no_errors	ENST00000376542	ensembl	human	known	69_37n	silent	100	13.79	16	SNP	0.985	T
ABI2	10152	genome.wustl.edu	37	2	204255823	204255823	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:204255823C>G	ENST00000422511.2	+	5	566	c.535C>G	c.(535-537)Cag>Gag	p.Q179E	ABI2_ENST00000261016.6_Missense_Mutation_p.Q128E|ABI2_ENST00000424558.1_Missense_Mutation_p.Q173E|ABI2_ENST00000430574.1_3'UTR|ABI2_ENST00000295851.5_Missense_Mutation_p.Q179E|ABI2_ENST00000261017.5_Missense_Mutation_p.Q173E|ABI2_ENST00000430418.1_Missense_Mutation_p.Q173E|ABI2_ENST00000261018.7_Missense_Mutation_p.Q14E			Q9NYB9	ABI2_HUMAN	abl-interactor 2	179	Pro-rich.				actin polymerization or depolymerization (GO:0008154)|cell migration (GO:0016477)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|Rac protein signal transduction (GO:0016601)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	cytoskeletal adaptor activity (GO:0008093)|DNA binding (GO:0003677)|kinase binding (GO:0019900)|proline-rich region binding (GO:0070064)|protein complex binding (GO:0032403)|SH3 domain binding (GO:0017124)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						ACCTCCAACTCAGAAGCCCCC	0.408																																						dbGAP											0													44.0	46.0	45.0					2																	204255823		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF260261	CCDS2358.1, CCDS63093.1, CCDS63094.1, CCDS74634.1	2q33	2010-09-20	2009-07-23		ENSG00000138443	ENSG00000138443			24011	protein-coding gene	gene with protein product		606442				7590236, 10964520	Standard	XM_005246217		Approved	ABI-2, AIP-1, ABI2B, AblBP3, argBPIA, SSH3BP2	uc002uzz.3	Q9NYB9	OTTHUMG00000132879	ENST00000422511.2:c.535C>G	2.37:g.204255823C>G	ENSP00000396249:p.Gln179Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DSN1|Q13147|Q13249|Q13801|Q9BV70	Missense_Mutation	SNP	pfam_Abl-interactor_HHR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,pfscan_T_SNARE_dom,prints_SH3_domain,prints_p67phox	p.Q179E	ENST00000422511.2	37	c.535		2	.	.	.	.	.	.	.	.	.	.	C	26.1	4.702964	0.88924	.	.	ENSG00000138443	ENST00000295851;ENST00000261017;ENST00000430418;ENST00000424558;ENST00000261016;ENST00000417864;ENST00000422511;ENST00000261018	D;D;D;D;D;D;D;D	0.94931	-3.56;-3.56;-3.56;-3.56;-3.56;-3.56;-3.56;-3.56	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.96580	0.8884	L	0.55481	1.735	0.80722	D	1	P;P;P;D;P;P;P;P;D	0.61080	0.713;0.713;0.458;0.989;0.917;0.713;0.917;0.798;0.978	P;P;P;D;P;P;P;B;D	0.74348	0.585;0.585;0.585;0.983;0.878;0.585;0.878;0.323;0.931	D	0.96806	0.9593	10	0.87932	D	0	-9.5591	19.7992	0.96500	0.0:1.0:0.0:0.0	.	14;14;14;117;173;173;128;179;173	B7Z5L1;B7Z612;B4DMM5;B7Z836;Q9NYB9-4;E9PEZ7;Q9NYB9-3;Q9NYB9;Q9NYB9-2	.;.;.;.;.;.;.;ABI2_HUMAN;.	E	179;173;173;173;128;179;179;14	ENSP00000295851:Q179E;ENSP00000261017:Q173E;ENSP00000408898:Q173E;ENSP00000391433:Q173E;ENSP00000261016:Q128E;ENSP00000414703:Q179E;ENSP00000396249:Q179E;ENSP00000261018:Q14E	ENSP00000261016:Q128E	Q	+	1	0	ABI2	203964068	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.291000	0.78721	2.665000	0.90641	0.591000	0.81541	CAG	ABI2	-	NULL	ENSG00000138443		0.408	ABI2-007	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	ABI2	HGNC	protein_coding	OTTHUMT00000336179.2	60	0.00	0	C	NM_005759		204255823	204255823	+1	no_errors	ENST00000295851	ensembl	human	known	69_37n	missense	32	31.91	15	SNP	1.000	G
ABI3BP	25890	genome.wustl.edu	37	3	100570746	100570746	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:100570746C>G	ENST00000284322.5	-	13	1307	c.1198G>C	c.(1198-1200)Gag>Cag	p.E400Q	ABI3BP_ENST00000495063.1_Missense_Mutation_p.E449Q|ABI3BP_ENST00000471714.1_Missense_Mutation_p.E449Q	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	400					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						ATCTCAGGCTCATCTGATGTT	0.348																																						dbGAP											0													88.0	89.0	89.0					3																	100570746		1824	4075	5899	-	-	-	SO:0001583	missense	0			AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"""Fibronectin type III domain containing"""	17265	protein-coding gene	gene with protein product	"""target of Nesh-SH3"""	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.1198G>C	3.37:g.100570746C>G	ENSP00000284322:p.Glu400Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.E400Q	ENST00000284322.5	37	c.1198	CCDS46880.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.857|9.857	1.195295|1.195295	0.22037|0.22037	.|.	.|.	ENSG00000154175|ENSG00000154175	ENST00000471714;ENST00000284322;ENST00000495063|ENST00000533855	T;T;T|.	0.59364|.	0.27;0.27;0.27|.	4.64|4.64	4.64|4.64	0.57946|0.57946	.|.	0.316966|.	0.28349|.	N|.	0.015676|.	T|T	0.62356|0.62356	0.2421|0.2421	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	P;P|.	0.35745|.	0.518;0.489|.	B;B|.	0.43508|.	0.422;0.229|.	T|T	0.60125|0.60125	-0.7324|-0.7324	10|5	0.36615|.	T|.	0.2|.	-7.9611|-7.9611	10.144|10.144	0.42751|0.42751	0.0:0.8992:0.0:0.1008|0.0:0.8992:0.0:0.1008	.|.	449;400|.	Q5JPC9;Q7Z7G0|.	.;TARSH_HUMAN|.	Q|I	449;400;449|77	ENSP00000420524:E449Q;ENSP00000284322:E400Q;ENSP00000433993:E449Q|.	ENSP00000284322:E400Q|.	E|M	-|-	1|3	0|0	ABI3BP|ABI3BP	102053436|102053436	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.035000|0.035000	0.12851|0.12851	2.893000|2.893000	0.48633|0.48633	2.570000|2.570000	0.86706|0.86706	0.650000|0.650000	0.86243|0.86243	GAG|ATG	ABI3BP	-	NULL	ENSG00000154175		0.348	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABI3BP	HGNC	protein_coding	OTTHUMT00000353260.1	75	0.00	0	C			100570746	100570746	-1	no_errors	ENST00000284322	ensembl	human	known	69_37n	missense	88	16.98	18	SNP	0.998	G
ABI3BP	25890	genome.wustl.edu	37	3	100581182	100581182	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:100581182C>T	ENST00000284322.5	-	12	1241	c.1132G>A	c.(1132-1134)Gat>Aat	p.D378N	ABI3BP_ENST00000495063.1_Missense_Mutation_p.D427N|ABI3BP_ENST00000471714.1_Missense_Mutation_p.D427N	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	378					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)	p.D427N(1)|p.D378N(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						ACTTTGGAATCTTCAGATATT	0.294																																						dbGAP											2	Substitution - Missense(2)	endometrium(2)											45.0	43.0	43.0					3																	100581182		1792	4065	5857	-	-	-	SO:0001583	missense	0			AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"""Fibronectin type III domain containing"""	17265	protein-coding gene	gene with protein product	"""target of Nesh-SH3"""	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.1132G>A	3.37:g.100581182C>T	ENSP00000284322:p.Asp378Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.D378N	ENST00000284322.5	37	c.1132	CCDS46880.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.99|14.99	2.699100|2.699100	0.48307|0.48307	.|.	.|.	ENSG00000154175|ENSG00000154175	ENST00000471714;ENST00000284322;ENST00000495063|ENST00000459682;ENST00000483129	T;T|.	0.25579|.	2.01;1.79|.	4.96|4.96	4.02|4.02	0.46733|0.46733	.|.	0.724114|.	0.13683|.	N|.	0.370079|.	T|T	0.59715|0.59715	0.2214|0.2214	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	D;P|.	0.62365|.	0.991;0.932|.	P;B|.	0.53593|.	0.73;0.396|.	T|T	0.56165|0.56165	-0.8024|-0.8024	10|5	0.33141|.	T|.	0.24|.	-16.5068|-16.5068	10.77|10.77	0.46316|0.46316	0.0:0.8076:0.1924:0.0|0.0:0.8076:0.1924:0.0	.|.	427;378|.	Q5JPC9;Q7Z7G0|.	.;TARSH_HUMAN|.	N|K	427;378;427|25;178	ENSP00000420524:D427N;ENSP00000284322:D378N|.	ENSP00000284322:D378N|.	D|R	-|-	1|2	0|0	ABI3BP|ABI3BP	102063872|102063872	0.980000|0.980000	0.34600|0.34600	0.964000|0.964000	0.40570|0.40570	0.159000|0.159000	0.22180|0.22180	1.441000|1.441000	0.35035|0.35035	2.456000|2.456000	0.83038|0.83038	0.484000|0.484000	0.47621|0.47621	GAT|AGA	ABI3BP	-	NULL	ENSG00000154175		0.294	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABI3BP	HGNC	protein_coding	OTTHUMT00000353260.1	111	0.00	0	C			100581182	100581182	-1	no_errors	ENST00000284322	ensembl	human	known	69_37n	missense	104	24.64	34	SNP	0.949	T
ABI3BP	25890	genome.wustl.edu	37	3	100617686	100617686	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:100617686C>T	ENST00000284322.5	-	4	511	c.402G>A	c.(400-402)ccG>ccA	p.P134P	ABI3BP_ENST00000495063.1_Silent_p.P134P|ABI3BP_ENST00000471714.1_Silent_p.P134P|ABI3BP_ENST00000532144.1_5'UTR	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	134	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						AGACCGAGCTCGGTGTCAGAG	0.478																																						dbGAP											0													99.0	110.0	106.0					3																	100617686		2128	4252	6380	-	-	-	SO:0001819	synonymous_variant	0			AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"""Fibronectin type III domain containing"""	17265	protein-coding gene	gene with protein product	"""target of Nesh-SH3"""	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.402G>A	3.37:g.100617686C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Silent	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.P134	ENST00000284322.5	37	c.402	CCDS46880.1	3																																																																																			ABI3BP	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000154175		0.478	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABI3BP	HGNC	protein_coding	OTTHUMT00000353260.1	43	0.00	0	C			100617686	100617686	-1	no_errors	ENST00000284322	ensembl	human	known	69_37n	silent	56	13.85	9	SNP	0.994	T
ABL1	25	genome.wustl.edu	37	9	133759439	133759439	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:133759439G>C	ENST00000318560.5	+	11	2143	c.1762G>C	c.(1762-1764)Gag>Cag	p.E588Q		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	588					actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	GAATGAAGATGAGCGCCTTCT	0.557			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																	dbGAP		Dom	yes		9	9q34.1	25	v-abl Abelson murine leukemia viral oncogene homolog 1		L	0													95.0	104.0	101.0					9																	133759439		2203	4300	6503	-	-	-	SO:0001583	missense	0			M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.1762G>C	9.37:g.133759439G>C	ENSP00000323315:p.Glu588Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP	pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.E607Q	ENST00000318560.5	37	c.1819	CCDS35166.1	9	.	.	.	.	.	.	.	.	.	.	G	15.44	2.834651	0.50951	.	.	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	T;T	0.14766	2.48;2.48	5.29	5.29	0.74685	.	0.053190	0.85682	D	0.000000	T	0.19087	0.0458	L	0.58101	1.795	0.53005	D	0.99996	P;P	0.40794	0.729;0.729	B;B	0.39971	0.25;0.315	T	0.01309	-1.1389	10	0.37606	T	0.19	.	17.9133	0.88940	0.0:0.0:1.0:0.0	.	588;625	P00519;Q59FK4	ABL1_HUMAN;.	Q	403;607;588	ENSP00000361423:E607Q;ENSP00000323315:E588Q	ENSP00000323315:E588Q	E	+	1	0	ABL1	132749260	1.000000	0.71417	0.964000	0.40570	0.396000	0.30629	9.476000	0.97823	2.460000	0.83146	0.561000	0.74099	GAG	ABL1	-	NULL	ENSG00000097007		0.557	ABL1-001	KNOWN	basic|CCDS	protein_coding	ABL1	HGNC	protein_coding	OTTHUMT00000054684.1	19	0.00	0	G	NM_007313		133759439	133759439	+1	no_errors	ENST00000372348	ensembl	human	known	69_37n	missense	18	21.74	5	SNP	1.000	C
AOC1	26	genome.wustl.edu	37	7	150558196	150558196	+	Silent	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:150558196C>A	ENST00000493429.1	+	7	2739	c.2155C>A	c.(2155-2157)Cgg>Agg	p.R719R	AOC1_ENST00000416793.2_Silent_p.R738R|AOC1_ENST00000467291.1_Silent_p.R719R|AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000360937.4_Silent_p.R719R			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	719					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)									Amiloride(DB00594)	CGTGTGGCCTCGGGACAACGG	0.602																																						dbGAP											0													61.0	69.0	67.0					7																	150558196		2044	4187	6231	-	-	-	SO:0001819	synonymous_variant	0			AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"""diamine oxidase"""	104610	"""amiloride binding protein 1 (amine oxidase (copper-containing))"""	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.2155C>A	7.37:g.150558196C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	C9J690|Q16683|Q16684|Q56II4|Q6GU42	Silent	SNP	pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase	p.R738	ENST00000493429.1	37	c.2212	CCDS43679.1	7																																																																																			ABP1	-	superfamily_Cu_amine_oxidase_C	ENSG00000002726		0.602	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ABP1	HGNC	protein_coding	OTTHUMT00000350628.1	39	0.00	0	C	NM_001091		150558196	150558196	+1	no_errors	ENST00000416793	ensembl	human	known	69_37n	silent	30	41.18	21	SNP	0.010	A
ABR	29	genome.wustl.edu	37	17	959301	959301	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:959301G>C	ENST00000302538.5	-	14	1681	c.1535C>G	c.(1534-1536)tCt>tGt	p.S512C	ABR_ENST00000544583.2_Missense_Mutation_p.S466C|ABR_ENST00000574437.1_Missense_Mutation_p.S466C|ABR_ENST00000536794.2_Missense_Mutation_p.S294C|ABR_ENST00000291107.2_Missense_Mutation_p.S475C|ABR_ENST00000573895.1_5'UTR	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	512	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		TCCCTTGGCAGAGTGGACGAT	0.582											OREG0024067	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(197;2016 2115 4129 29033 46447)	dbGAP											0													123.0	94.0	104.0					17																	959301		2203	4300	6503	-	-	-	SO:0001583	missense	0			L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	81	protein-coding gene	gene with protein product		600365	"""active BCR-related gene"""			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.1535C>G	17.37:g.959301G>C	ENSP00000303909:p.Ser512Cys	Somatic	592	WXS	Illumina GAIIx	Phase_IV	B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RhoGAP_dom,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain	p.S512C	ENST00000302538.5	37	c.1535	CCDS10999.1	17	.	.	.	.	.	.	.	.	.	.	g	23.5	4.426101	0.83667	.	.	ENSG00000159842	ENST00000302538;ENST00000544583;ENST00000291107;ENST00000536794	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.68	4.71	0.59529	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.119688	0.64402	D	0.000019	T	0.64427	0.2597	M	0.73598	2.24	0.40013	D	0.97531	D;D;D	0.89917	1.0;0.995;1.0	D;P;D	0.83275	0.996;0.824;0.996	T	0.69335	-0.5172	10	0.56958	D	0.05	.	14.8484	0.70277	0.0:0.0:0.8551:0.1449	.	294;475;512	B7Z683;Q12979-2;Q12979	.;.;ABR_HUMAN	C	512;466;475;294	ENSP00000303909:S512C;ENSP00000442048:S466C;ENSP00000291107:S475C;ENSP00000437429:S294C	ENSP00000291107:S475C	S	-	2	0	ABR	906051	1.000000	0.71417	0.994000	0.49952	0.942000	0.58702	9.289000	0.96061	1.395000	0.46643	-0.318000	0.08688	TCT	ABR	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	ENSG00000159842		0.582	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABR	HGNC	protein_coding	OTTHUMT00000206675.4	40	0.00	0	G			959301	959301	-1	no_errors	ENST00000302538	ensembl	human	known	69_37n	missense	31	36.73	18	SNP	1.000	C
ABRA	137735	genome.wustl.edu	37	8	107773410	107773410	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:107773410C>G	ENST00000311955.3	-	2	1055	c.1001G>C	c.(1000-1002)gGa>gCa	p.G334A		NM_139166.4	NP_631905.1			actin-binding Rho activating protein											breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			AAAGAGATCTCCAAAAGTAAC	0.463																																						dbGAP											0													151.0	135.0	141.0					8																	107773410		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF503617	CCDS6305.1	8q23.1	2012-02-06			ENSG00000174429	ENSG00000174429			30655	protein-coding gene	gene with protein product	"""striated muscle activator of Rho-dependent signaling"""	609747				11983702	Standard	NM_139166		Approved	STARS	uc003ymm.4	Q8N0Z2	OTTHUMG00000164809	ENST00000311955.3:c.1001G>C	8.37:g.107773410C>G	ENSP00000311436:p.Gly334Ala	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.G334A	ENST00000311955.3	37	c.1001	CCDS6305.1	8	.	.	.	.	.	.	.	.	.	.	C	22.5	4.292074	0.80914	.	.	ENSG00000174429	ENST00000311955	.	.	.	5.94	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.85423	0.5693	M	0.92169	3.28	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.88425	0.3031	9	0.87932	D	0	-13.2199	15.5359	0.76001	0.0:0.9328:0.0:0.0672	.	334	Q8N0Z2	ABRA_HUMAN	A	334	.	ENSP00000311436:G334A	G	-	2	0	ABRA	107842586	1.000000	0.71417	0.970000	0.41538	0.711000	0.40976	6.081000	0.71309	2.807000	0.96579	0.650000	0.86243	GGA	ABRA	-	NULL	ENSG00000174429		0.463	ABRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABRA	HGNC	protein_coding	OTTHUMT00000380416.1	86	0.00	0	C	NM_139166		107773410	107773410	-1	no_errors	ENST00000311955	ensembl	human	known	69_37n	missense	108	19.40	26	SNP	1.000	G
ACADVL	37	genome.wustl.edu	37	17	7124101	7124101	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:7124101G>C	ENST00000356839.5	+	5	473	c.294G>C	c.(292-294)caG>caC	p.Q98H	DLG4_ENST00000399510.2_5'Flank|ACADVL_ENST00000543245.2_Missense_Mutation_p.Q121H|ACADVL_ENST00000350303.5_Missense_Mutation_p.Q76H|ACADVL_ENST00000581562.1_3'UTR|MIR324_ENST00000362183.1_RNA	NM_000018.3|NM_001270448.1	NP_000009.1|NP_001257377.1	P49748	ACADV_HUMAN	acyl-CoA dehydrogenase, very long chain	98	Catalytic.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy derivation by oxidation of organic compounds (GO:0015980)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of fatty acid oxidation (GO:0046322)|regulation of cholesterol metabolic process (GO:0090181)|small molecule metabolic process (GO:0044281)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)	p.Q98Q(1)		breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						ACGAAGAGCAGACACAGTTTC	0.577																																						dbGAP											1	Substitution - coding silent(1)	endometrium(1)											94.0	86.0	89.0					17																	7124101		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC012912	CCDS11090.1, CCDS42249.1, CCDS58509.1	17p13.1	2010-04-30	2010-04-30		ENSG00000072778	ENSG00000072778			92	protein-coding gene	gene with protein product		609575	"""acyl-Coenzyme A dehydrogenase, very long chain"""			8921384	Standard	NM_000018		Approved	VLCAD, LCACD, ACAD6	uc002gev.4	P49748	OTTHUMG00000102157	ENST00000356839.5:c.294G>C	17.37:g.7124101G>C	ENSP00000349297:p.Gln98His	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DEB6|F5H2A9|O76056|Q8WUL0	Missense_Mutation	SNP	pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C	p.Q98H	ENST00000356839.5	37	c.294	CCDS11090.1	17	.	.	.	.	.	.	.	.	.	.	G	15.58	2.875515	0.51695	.	.	ENSG00000072778	ENST00000543245;ENST00000356839;ENST00000350303;ENST00000322910;ENST00000542255	D;D	0.98901	-5.22;-5.22	5.75	2.72	0.32119	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	0.059305	0.64402	D	0.000002	D	0.98861	0.9615	M	0.88310	2.945	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.999;0.998;1.0	D;D;D;D	0.80764	0.966;0.95;0.95;0.994	D	0.98136	1.0433	10	0.33940	T	0.23	.	7.1343	0.25519	0.2667:0.0:0.7333:0.0	.	144;121;76;98	G3V1M7;F5H2A9;P49748-2;P49748	.;.;.;ACADV_HUMAN	H	121;144;76;98;144	ENSP00000438689:Q121H;ENSP00000344152:Q76H	ENSP00000325395:Q98H	Q	+	3	2	ACADVL	7064825	1.000000	0.71417	0.983000	0.44433	0.010000	0.07245	3.772000	0.55325	0.795000	0.33922	-0.136000	0.14681	CAG	ACADVL	-	superfamily_AcylCoA_DH/oxidase	ENSG00000072778		0.577	ACADVL-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	ACADVL	HGNC	protein_coding	OTTHUMT00000220001.5	71	0.00	0	G	NM_000018		7124101	7124101	+1	no_errors	ENST00000356839	ensembl	human	known	69_37n	missense	67	25.27	23	SNP	0.992	C
ACADVL	37	genome.wustl.edu	37	17	7124146	7124146	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:7124146C>T	ENST00000356839.5	+	5	518	c.339C>T	c.(337-339)ttC>ttT	p.F113F	DLG4_ENST00000399510.2_5'Flank|ACADVL_ENST00000543245.2_Silent_p.F136F|ACADVL_ENST00000350303.5_Silent_p.F91F|ACADVL_ENST00000581562.1_3'UTR|MIR324_ENST00000362183.1_RNA	NM_000018.3|NM_001270448.1	NP_000009.1|NP_001257377.1	P49748	ACADV_HUMAN	acyl-CoA dehydrogenase, very long chain	113	Catalytic.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy derivation by oxidation of organic compounds (GO:0015980)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of fatty acid oxidation (GO:0046322)|regulation of cholesterol metabolic process (GO:0090181)|small molecule metabolic process (GO:0044281)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						CCCGTTTCTTCGAGGTAAGGA	0.567																																						dbGAP											0													101.0	96.0	98.0					17																	7124146		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC012912	CCDS11090.1, CCDS42249.1, CCDS58509.1	17p13.1	2010-04-30	2010-04-30		ENSG00000072778	ENSG00000072778			92	protein-coding gene	gene with protein product		609575	"""acyl-Coenzyme A dehydrogenase, very long chain"""			8921384	Standard	NM_000018		Approved	VLCAD, LCACD, ACAD6	uc002gev.4	P49748	OTTHUMG00000102157	ENST00000356839.5:c.339C>T	17.37:g.7124146C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DEB6|F5H2A9|O76056|Q8WUL0	Missense_Mutation	SNP	pfam_Acyl-CoA_DH_N,superfamily_AcylCoA_DH/oxidase	p.S13L	ENST00000356839.5	37	c.38	CCDS11090.1	17																																																																																			ACADVL	-	pfam_Acyl-CoA_DH_N,superfamily_AcylCoA_DH/oxidase	ENSG00000072778		0.567	ACADVL-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	ACADVL	HGNC	protein_coding	OTTHUMT00000220001.5	83	0.00	0	C	NM_000018		7124146	7124146	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000581378	ensembl	human	known	69_37n	missense	90	23.08	27	SNP	0.995	T
ACACA	31	genome.wustl.edu	37	17	35454054	35454054	+	Silent	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:35454054C>A	ENST00000394406.2	-	54	6847	c.6657G>T	c.(6655-6657)ctG>ctT	p.L2219L	ACACA_ENST00000353139.5_Silent_p.L2256L|ACACA_ENST00000360679.3_Silent_p.L2161L|ACACA_ENST00000361253.5_Silent_p.L345L|ACACA_ENST00000335166.5_Silent_p.L2141L	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	2219					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GAAGACGCCTCAGCCGCCAGT	0.488																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	dbGAP											0													78.0	72.0	74.0					17																	35454054		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.6657G>T	17.37:g.35454054C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Silent	SNP	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.L2256	ENST00000394406.2	37	c.6768	CCDS11317.1	17																																																																																			ACACA	-	pfam_Carboxyl_trans	ENSG00000132142		0.488	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACA	HGNC	protein_coding	OTTHUMT00000256696.1	76	0.00	0	C	NM_198836		35454054	35454054	-1	no_errors	ENST00000353139	ensembl	human	known	69_37n	silent	43	32.81	21	SNP	1.000	A
ACAN	176	genome.wustl.edu	37	15	89402288	89402288	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:89402288G>C	ENST00000561243.1	+	11	6472	c.6472G>C	c.(6472-6474)Gaa>Caa	p.E2158Q	ACAN_ENST00000352105.7_Missense_Mutation_p.E2158Q|ACAN_ENST00000439576.2_Missense_Mutation_p.E2158Q|ACAN_ENST00000559004.1_Missense_Mutation_p.E2158Q			P16112	PGCA_HUMAN	aggrecan	2043	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)			GACATTTCAAGAAGGCGAGGC	0.582																																						dbGAP											0													74.0	79.0	77.0					15																	89402288		2093	4214	6307	-	-	-	SO:0001583	missense	0			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.6472G>C	15.37:g.89402288G>C	ENSP00000453342:p.Glu2158Gln	Somatic		WXS	Illumina GAIIx	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_EGF-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EGF-like,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.E2158Q	ENST00000561243.1	37	c.6472	CCDS53970.1	15	.	.	.	.	.	.	.	.	.	.	G	8.387	0.838765	0.16891	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.02656	4.3;4.21	4.27	3.34	0.38264	.	.	.	.	.	T	0.11495	0.0280	M	0.75447	2.3	0.09310	N	1	D;P	0.89917	1.0;0.714	D;B	0.68621	0.959;0.267	T	0.16217	-1.0410	9	0.17832	T	0.49	-9.3269	11.719	0.51670	0.0:0.1776:0.8223:0.0	.	2158;2158	E7ENV9;E7EX88	.;.	Q	2158;2158;2044	ENSP00000387356:E2158Q;ENSP00000341615:E2158Q	ENSP00000268134:E2044Q	E	+	1	0	ACAN	87203292	1.000000	0.71417	0.017000	0.16124	0.618000	0.37518	5.016000	0.64041	0.981000	0.38548	0.484000	0.47621	GAA	ACAN	-	NULL	ENSG00000157766		0.582	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	ACAN	HGNC	protein_coding	OTTHUMT00000416267.2	23	0.00	0	G	NM_001135		89402288	89402288	+1	no_errors	ENST00000439576	ensembl	human	known	69_37n	missense	22	35.29	12	SNP	0.093	C
ACBD3	64746	genome.wustl.edu	37	1	226349284	226349284	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:226349284C>T	ENST00000366812.5	-	4	730	c.676G>A	c.(676-678)Gaa>Aaa	p.E226K	ACBD3_ENST00000464927.1_5'UTR	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	226	Arg-rich.|Glu-rich.				steroid biosynthetic process (GO:0006694)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		ctttcctcttcctcccgtcga	0.443																																						dbGAP											0													141.0	117.0	125.0					1																	226349284		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB043587	CCDS1551.1	1q41	2013-10-16	2010-04-30	2003-11-12	ENSG00000182827	ENSG00000182827		"""A-kinase anchor proteins"""	15453	protein-coding gene	gene with protein product	"""PBR- and PKA-associated protein 7"""	606809	"""golgi complex associated protein 1, 60kDa"", ""acyl-Coenzyme A binding domain containing 3"""	GOLPH1, GOCAP1		12692076, 20150326	Standard	NM_022735		Approved	GCP60, PAP7	uc001hpy.3	Q9H3P7	OTTHUMG00000037560	ENST00000366812.5:c.676G>A	1.37:g.226349284C>T	ENSP00000355777:p.Glu226Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RB29|Q5VTJ0|Q6P9F1|Q8IZC5|Q8N4D6|Q9H6U3	Missense_Mutation	SNP	pfam_Acyl-CoA-binding_protein,superfamily_GOLD,superfamily_Acyl-CoA-binding_protein,pfscan_GOLD	p.E226K	ENST00000366812.5	37	c.676	CCDS1551.1	1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.022027	0.54576	.	.	ENSG00000182827	ENST00000366812	T	0.59224	0.28	4.84	4.84	0.62591	.	0.503297	0.21691	N	0.070575	T	0.68320	0.2988	L	0.53780	1.695	0.51482	D	0.999929	P	0.52842	0.956	P	0.62184	0.899	T	0.65768	-0.6088	10	0.39692	T	0.17	-6.9837	14.1547	0.65410	0.0:1.0:0.0:0.0	.	226	Q9H3P7	GCP60_HUMAN	K	226	ENSP00000355777:E226K	ENSP00000355777:E226K	E	-	1	0	ACBD3	224415907	1.000000	0.71417	0.999000	0.59377	0.964000	0.63967	3.872000	0.56085	2.602000	0.87976	0.563000	0.77884	GAA	ACBD3	-	NULL	ENSG00000182827		0.443	ACBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACBD3	HGNC	protein_coding	OTTHUMT00000091528.1	259	0.00	0	C	NM_022735		226349284	226349284	-1	no_errors	ENST00000366812	ensembl	human	known	69_37n	missense	199	33.22	99	SNP	1.000	T
ACBD5	91452	genome.wustl.edu	37	10	27524046	27524046	+	Missense_Mutation	SNP	A	A	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:27524046A>G	ENST00000375888.1	-	2	335	c.271T>C	c.(271-273)Tgg>Cgg	p.W91R	ACBD5_ENST00000375905.4_Missense_Mutation_p.W58R|ACBD5_ENST00000375897.3_Intron|RNU7-12P_ENST00000516030.1_RNA|ACBD5_ENST00000396271.3_Missense_Mutation_p.W93R|ACBD5_ENST00000375901.1_Intron|AL160291.1_ENST00000578607.1_RNA|ACBD5_ENST00000476758.1_Intron			Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	91	ACB. {ECO:0000255|PROSITE- ProRule:PRU00573}.				peroxisome degradation (GO:0030242)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisome (GO:0005777)	fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						ATAGGATCCCAAAATCCAGGC	0.328																																						dbGAP											0													58.0	58.0	58.0					10																	27524046		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF505653	CCDS7154.1, CCDS44368.1, CCDS73079.1	10p12.1	2010-04-30	2010-04-30		ENSG00000107897	ENSG00000107897			23338	protein-coding gene	gene with protein product			"""acyl-Coenzyme A binding domain containing 5"""			12056414	Standard	NR_024150		Approved	DKFZp434A2417, KIAA1996	uc010qdp.2	Q5T8D3	OTTHUMG00000017854	ENST00000375888.1:c.271T>C	10.37:g.27524046A>G	ENSP00000365049:p.Trp91Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQ56|D3DRW0|Q5T8D4|Q5T8E1|Q5T8E2|Q86UV1|Q8N6E3|Q9UFB5	Missense_Mutation	SNP	pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,pirsf_M-assoc_diazepam-bd-inh,prints_Acyl-CoA-binding_protein	p.W91R	ENST00000375888.1	37	c.271		10	.	.	.	.	.	.	.	.	.	.	A	22.7	4.330203	0.81690	.	.	ENSG00000107897	ENST00000375889;ENST00000396271;ENST00000375905;ENST00000375888;ENST00000426079;ENST00000412279	T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.58075	0.2097	M	0.93150	3.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.70483	-0.4859	10	0.87932	D	0	-8.9554	15.8828	0.79216	1.0:0.0:0.0:0.0	.	93;91	Q5T8D3-3;B7Z2R7	.;.	R	88;93;58;91;100;58	ENSP00000379568:W93R;ENSP00000365070:W58R;ENSP00000365049:W91R;ENSP00000401591:W100R;ENSP00000393398:W58R	ENSP00000365049:W91R	W	-	1	0	ACBD5	27564052	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.798000	0.91888	2.213000	0.71641	0.477000	0.44152	TGG	ACBD5	-	pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,pirsf_M-assoc_diazepam-bd-inh,prints_Acyl-CoA-binding_protein	ENSG00000107897		0.328	ACBD5-005	KNOWN	basic	protein_coding	ACBD5	HGNC	protein_coding	OTTHUMT00000047314.1	78	0.00	0	A	NM_145698		27524046	27524046	-1	no_errors	ENST00000375888	ensembl	human	known	69_37n	missense	62	12.68	9	SNP	1.000	G
ACCSL	390110	genome.wustl.edu	37	11	44076821	44076821	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:44076821C>G	ENST00000378832.1	+	9	1175	c.1119C>G	c.(1117-1119)caC>caG	p.H373Q		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	373					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						TCACATTCCACAGCATTCTGA	0.413																																						dbGAP											0													105.0	98.0	100.0					11																	44076821		1953	4161	6114	-	-	-	SO:0001583	missense	0				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.1119C>G	11.37:g.44076821C>G	ENSP00000368109:p.His373Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,prints_ACC_synthase	p.H373Q	ENST00000378832.1	37	c.1119	CCDS41636.1	11	.	.	.	.	.	.	.	.	.	.	C	15.64	2.893785	0.52121	.	.	ENSG00000205126	ENST00000378832	T	0.21734	1.99	4.14	2.26	0.28386	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.215516	0.48286	D	0.000182	T	0.25344	0.0616	M	0.70842	2.15	0.38005	D	0.934351	P	0.37548	0.599	P	0.45167	0.472	T	0.10337	-1.0634	10	0.11485	T	0.65	-24.9259	8.3181	0.32113	0.0:0.7971:0.0:0.2029	.	373	Q4AC99	1A1L2_HUMAN	Q	373	ENSP00000368109:H373Q	ENSP00000368109:H373Q	H	+	3	2	ACCSL	44033397	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.907000	0.28531	1.082000	0.41137	0.655000	0.94253	CAC	ACCSL	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,prints_ACC_synthase	ENSG00000205126		0.413	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACCSL	HGNC	protein_coding	OTTHUMT00000389717.1	109	0.00	0	C	NM_001031854		44076821	44076821	+1	no_errors	ENST00000378832	ensembl	human	known	69_37n	missense	66	41.59	47	SNP	1.000	G
ACE	1636	genome.wustl.edu	37	17	61557151	61557151	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:61557151C>G	ENST00000290866.4	+	4	557	c.533C>G	c.(532-534)tCc>tGc	p.S178C	ACE_ENST00000538928.1_Missense_Mutation_p.S178C|ACE_ENST00000584529.1_3'UTR|ACE_ENST00000428043.1_Missense_Mutation_p.S178C	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	178	Peptidase M2 1.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	ATCCTGGCTTCCTCGCGAAGC	0.612																																						dbGAP											0													123.0	88.0	100.0					17																	61557151		2203	4300	6503	-	-	-	SO:0001583	missense	0			J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"""CD molecules"""	2707	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	106180	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"""	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.533C>G	17.37:g.61557151C>G	ENSP00000290866:p.Ser178Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	pfam_Peptidase_M2,prints_Peptidase_M2	p.S178C	ENST00000290866.4	37	c.533	CCDS11637.1	17	.	.	.	.	.	.	.	.	.	.	C	15.93	2.979425	0.53827	.	.	ENSG00000159640	ENST00000538928;ENST00000290866;ENST00000428043	T;T;T	0.35421	1.31;1.31;1.31	3.88	1.47	0.22746	.	0.969776	0.08491	N	0.937949	T	0.47340	0.1440	M	0.64080	1.96	0.09310	N	0.999998	D;B	0.65815	0.995;0.101	P;B	0.57152	0.814;0.089	T	0.30179	-0.9987	10	0.72032	D	0.01	-3.1849	5.3837	0.16206	0.1516:0.6483:0.0:0.2001	.	178;178	F5H1K1;P12821	.;ACE_HUMAN	C	178	ENSP00000439591:S178C;ENSP00000290866:S178C;ENSP00000397593:S178C	ENSP00000290866:S178C	S	+	2	0	ACE	58910883	0.000000	0.05858	0.127000	0.21898	0.927000	0.56198	0.218000	0.17622	0.625000	0.30304	0.561000	0.74099	TCC	ACE	-	pfam_Peptidase_M2	ENSG00000159640		0.612	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACE	HGNC	protein_coding	OTTHUMT00000337675.2	27	0.00	0	C			61557151	61557151	+1	no_errors	ENST00000290866	ensembl	human	known	69_37n	missense	62	16.22	12	SNP	0.008	G
ACER3	55331	genome.wustl.edu	37	11	76701616	76701616	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:76701616C>T	ENST00000532485.1	+	6	540	c.436C>T	c.(436-438)Cag>Tag	p.Q146*	ACER3_ENST00000533873.1_Nonsense_Mutation_p.Q109*|ACER3_ENST00000526597.1_Nonsense_Mutation_p.Q51*|ACER3_ENST00000538157.1_Nonsense_Mutation_p.Q104*|ACER3_ENST00000530182.1_3'UTR	NM_018367.5	NP_060837.3	Q9NUN7	ACER3_HUMAN	alkaline ceramidase 3	146					ceramide metabolic process (GO:0006672)|phytosphingosine biosynthetic process (GO:0071602)|positive regulation of cell proliferation (GO:0008284)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of Golgi membrane (GO:0030173)	phytoceramidase activity (GO:0070774)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	9						GATATTCCATCAGGTAATTTT	0.313																																						dbGAP											0													180.0	170.0	174.0					11																	76701616		2200	4292	6492	-	-	-	SO:0001587	stop_gained	0			AF214454	CCDS8247.1, CCDS73352.1	11q13.5	2013-01-25	2008-12-19	2008-12-19	ENSG00000078124	ENSG00000078124	3.5.1.23	"""Alkaline ceramidase"""	16066	protein-coding gene	gene with protein product	"""alkaline phytoceramidase"""		"""phytoceramidase, alkaline"""	PHCA		11356846, 18619555	Standard	XM_005274090		Approved	FLJ11238, APHC	uc009yum.1	Q9NUN7	OTTHUMG00000165225	ENST00000532485.1:c.436C>T	11.37:g.76701616C>T	ENSP00000434480:p.Gln146*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RC99	Nonsense_Mutation	SNP	pfam_Ceramidase	p.Q146*	ENST00000532485.1	37	c.436	CCDS8247.1	11	.	.	.	.	.	.	.	.	.	.	C	36	5.936997	0.97122	.	.	ENSG00000078124	ENST00000534206;ENST00000532485;ENST00000526597;ENST00000533873;ENST00000538157;ENST00000530243	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-9.0433	14.8533	0.70316	0.0:1.0:0.0:0.0	.	.	.	.	X	104;146;51;109;104;104	.	ENSP00000431149:Q51X	Q	+	1	0	ACER3	76379264	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.716000	0.54904	2.880000	0.98712	0.650000	0.86243	CAG	ACER3	-	pfam_Ceramidase	ENSG00000078124		0.313	ACER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACER3	HGNC	protein_coding	OTTHUMT00000382770.2	224	0.88	2	C	NM_018367		76701616	76701616	+1	no_errors	ENST00000532485	ensembl	human	known	69_37n	nonsense	102	51.66	109	SNP	1.000	T
ACHE	43	genome.wustl.edu	37	7	100490265	100490265	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:100490265C>T	ENST00000412389.1	-	2	1398	c.1243G>A	c.(1243-1245)Gac>Aac	p.D415N	ACHE_ENST00000241069.5_Missense_Mutation_p.D415N|UFSP1_ENST00000388761.2_5'Flank|ACHE_ENST00000411582.1_Missense_Mutation_p.D415N|ACHE_ENST00000302913.4_Missense_Mutation_p.D415N|ACHE_ENST00000428317.1_Missense_Mutation_p.D415N|ACHE_ENST00000419336.2_Intron			P22303	ACES_HUMAN	acetylcholinesterase (Yt blood group)	415				D -> G (in Ref. 5; BAD97163). {ECO:0000305}.	acetylcholine catabolic process (GO:0006581)|acetylcholine catabolic process in synaptic cleft (GO:0001507)|amyloid precursor protein metabolic process (GO:0042982)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|choline metabolic process (GO:0019695)|DNA replication (GO:0006260)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|negative regulation of synaptic transmission, cholinergic (GO:0032223)|nervous system development (GO:0007399)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter receptor biosynthetic process (GO:0045212)|osteoblast development (GO:0002076)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of protein secretion (GO:0050714)|protein tetramerization (GO:0051262)|receptor internalization (GO:0031623)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of receptor recycling (GO:0001919)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|cholinesterase activity (GO:0004104)|collagen binding (GO:0005518)|hydrolase activity (GO:0016787)|laminin binding (GO:0043236)|protein homodimerization activity (GO:0042803)|serine hydrolase activity (GO:0017171)			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium(DB00944)|Dipivefrin(DB00449)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Minaprine(DB00805)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pralidoxime(DB00733)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tubocurarine(DB01199)	TGCAGCCAGTCTGTGTAATGC	0.687																																						dbGAP											0													25.0	27.0	26.0					7																	100490265		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS5709.1, CCDS5710.1, CCDS64736.1	7q22	2014-07-19	2014-01-02		ENSG00000087085	ENSG00000087085	3.1.1.7	"""Blood group antigens"""	108	protein-coding gene	gene with protein product	"""Yt blood group"""	100740	"""acetylcholinesterase (YT blood group)"", ""acetylcholinesterase (Yt blood group)"", ""acetylcholinesterase"""	YT		1380483	Standard	XM_005250357		Approved		uc003uxe.3	P22303	OTTHUMG00000157033	ENST00000412389.1:c.1243G>A	7.37:g.100490265C>T	ENSP00000394976:p.Asp415Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D2E2|B7ZKZ0|D6W5X7|Q16169|Q29S23|Q2M324|Q504V3|Q53F46|Q86TM9|Q86YX9|Q9BXP7	Splice_Site	SNP	-	e3-1	ENST00000412389.1	37	c.168-1	CCDS5709.1	7	.	.	.	.	.	.	.	.	.	.	C	16.38	3.106579	0.56291	.	.	ENSG00000087085	ENST00000241069;ENST00000428317;ENST00000302913;ENST00000412389;ENST00000411582;ENST00000422451	T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91	3.63	3.63	0.41609	Carboxylesterase, type B (1);	0.000000	0.85682	D	0.000000	T	0.40398	0.1115	L	0.43646	1.37	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.12091	-1.0561	9	.	.	.	.	13.1543	0.59508	0.0:1.0:0.0:0.0	.	415;415	P22303-2;P22303	.;ACES_HUMAN	N	415	ENSP00000241069:D415N;ENSP00000414858:D415N;ENSP00000303211:D415N;ENSP00000394976:D415N;ENSP00000404865:D415N	.	D	-	1	0	ACHE	100328201	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.324000	0.65863	2.039000	0.60335	0.491000	0.48974	GAC	ACHE	-	-	ENSG00000087085		0.687	ACHE-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACHE	HGNC	protein_coding	OTTHUMT00000347201.1	11	0.00	0	C	NM_015831		100490265	100490265	-1	no_errors	ENST00000442452	ensembl	human	known	69_37n	splice_site	15	40.00	10	SNP	1.000	T
ACOT4	122970	genome.wustl.edu	37	14	74062046	74062046	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:74062046C>G	ENST00000326303.4	+	3	1208	c.954C>G	c.(952-954)atC>atG	p.I318M		NM_152331.3	NP_689544.3	Q8N9L9	ACOT4_HUMAN	acyl-CoA thioesterase 4	318					acyl-CoA metabolic process (GO:0006637)|dicarboxylic acid catabolic process (GO:0043649)|dicarboxylic acid metabolic process (GO:0043648)|long-chain fatty acid metabolic process (GO:0001676)|saturated monocarboxylic acid metabolic process (GO:0032788)|short-chain fatty acid metabolic process (GO:0046459)|succinyl-CoA metabolic process (GO:0006104)|unsaturated monocarboxylic acid metabolic process (GO:0032789)|very long-chain fatty acid metabolic process (GO:0000038)	peroxisome (GO:0005777)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|succinyl-CoA hydrolase activity (GO:0004778)			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(234;0.00331)		AGGGGCCCATCCTGCTCATTG	0.502																																						dbGAP											0													72.0	68.0	70.0					14																	74062046		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC031799	CCDS9817.1	14q24.1	2011-02-16			ENSG00000177465	ENSG00000177465		"""Acyl CoA thioesterases"""	19748	protein-coding gene	gene with protein product		614314				16103133, 16940157	Standard	NM_152331		Approved	FLJ31235, PTE-Ib, PTE2B	uc001xoo.3	Q8N9L9	OTTHUMG00000169485	ENST00000326303.4:c.954C>G	14.37:g.74062046C>G	ENSP00000323071:p.Ile318Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RF4|Q5BKT6|Q86TX0|Q86TX1|Q96N88	Missense_Mutation	SNP	pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain	p.I318M	ENST00000326303.4	37	c.954	CCDS9817.1	14	.	.	.	.	.	.	.	.	.	.	C	17.90	3.501563	0.64298	.	.	ENSG00000177465	ENST00000326303	T	0.45668	0.89	5.74	3.64	0.41730	BAAT/Acyl-CoA thioester hydrolase C-terminal (1);	0.097222	0.64402	D	0.000001	T	0.50205	0.1602	M	0.76838	2.35	0.35957	D	0.834302	P	0.51240	0.943	P	0.51895	0.683	T	0.60026	-0.7343	10	0.72032	D	0.01	-3.578	4.9547	0.14033	0.2815:0.5371:0.0:0.1814	.	318	Q8N9L9	ACOT4_HUMAN	M	318	ENSP00000323071:I318M	ENSP00000323071:I318M	I	+	3	3	ACOT4	73131799	0.998000	0.40836	1.000000	0.80357	0.967000	0.64934	0.670000	0.25157	0.561000	0.29186	0.561000	0.74099	ATC	ACOT4	-	pfam_BAAT_C,pirsf_Acyl-CoA_thioEstase_long-chain	ENSG00000177465		0.502	ACOT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACOT4	HGNC	protein_coding	OTTHUMT00000404298.2	48	0.00	0	C	NM_152331		74062046	74062046	+1	no_errors	ENST00000326303	ensembl	human	known	69_37n	missense	32	25.00	11	SNP	1.000	G
ACOX1	51	genome.wustl.edu	37	17	73945642	73945642	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:73945642C>T	ENST00000301608.4	-	11	1578	c.1518G>A	c.(1516-1518)gtG>gtA	p.V506V	ACOX1_ENST00000537812.1_Silent_p.V468V|ACOX1_ENST00000293217.5_Silent_p.V506V	NM_007292.5	NP_009223.2	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	506					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid oxidation (GO:0019395)|generation of precursor metabolites and energy (GO:0006091)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|peroxisome fission (GO:0016559)|positive regulation of cholesterol homeostasis (GO:2000189)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|FAD binding (GO:0071949)|fatty acid binding (GO:0005504)|flavin adenine dinucleotide binding (GO:0050660)|palmitoyl-CoA oxidase activity (GO:0016401)|PDZ domain binding (GO:0030165)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14					Flavin adenine dinucleotide(DB03147)	TTCTGTGAATCACTTCTTTTT	0.418																																						dbGAP											0													141.0	133.0	136.0					17																	73945642		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U03254	CCDS11734.1, CCDS11735.1	17q25.1	2012-10-04	2010-04-30		ENSG00000161533	ENSG00000161533	1.3.3.6		119	protein-coding gene	gene with protein product		609751	"""acyl-Coenzyme A oxidase 1, palmitoyl"""			8159712	Standard	NM_007292		Approved	PALMCOX	uc002jqe.3	Q15067	OTTHUMG00000180027	ENST00000301608.4:c.1518G>A	17.37:g.73945642C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6X8|A8KAA0|B4DK61|F5GYQ8|Q12863|Q15068|Q15101|Q16131|Q7Z3W5|Q9UD31	Silent	SNP	pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase,pirsf_Acyl-CoA_oxidase	p.V506	ENST00000301608.4	37	c.1518	CCDS11735.1	17																																																																																			ACOX1	-	pfam_Acyl-CoA_oxidase_C,superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase	ENSG00000161533		0.418	ACOX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACOX1	HGNC	protein_coding	OTTHUMT00000439503.1	132	0.00	0	C			73945642	73945642	-1	no_errors	ENST00000293217	ensembl	human	known	69_37n	silent	144	12.73	21	SNP	0.969	T
ACOX2	8309	genome.wustl.edu	37	3	58520106	58520106	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:58520106C>T	ENST00000302819.5	-	3	595	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K	ACOX2_ENST00000459701.2_Missense_Mutation_p.E102K	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	102					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity (GO:0033791)|acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		TAGCCTAATTCACGACCATCT	0.542																																						dbGAP											0													113.0	107.0	109.0					3																	58520106		2203	4300	6503	-	-	-	SO:0001583	missense	0			X95190	CCDS33775.1	3p14.3	2012-07-13	2010-04-30		ENSG00000168306	ENSG00000168306	1.17.99.3		120	protein-coding gene	gene with protein product	"""trihydroxycoprostanoyl-CoA oxidase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase"""	601641	"""acyl-Coenzyme A oxidase 2, branched chain"""			8943006, 9070889	Standard	NM_003500		Approved	BRCACOX, BRCOX, THCCox	uc003dkl.3	Q99424	OTTHUMG00000159154	ENST00000302819.5:c.304G>A	3.37:g.58520106C>T	ENSP00000307697:p.Glu102Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NF16|B2R8U5	Missense_Mutation	SNP	pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase,pirsf_Acyl-CoA_oxidase	p.E102K	ENST00000302819.5	37	c.304	CCDS33775.1	3	.	.	.	.	.	.	.	.	.	.	C	18.73	3.687450	0.68157	.	.	ENSG00000168306	ENST00000459701;ENST00000302819;ENST00000474098	T;T;T	0.48836	0.8;0.8;0.8	5.38	4.49	0.54785	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	0.611961	0.15825	N	0.242801	T	0.56863	0.2014	M	0.69823	2.125	0.30656	N	0.754923	P	0.48998	0.918	P	0.47827	0.558	T	0.64521	-0.6388	10	0.72032	D	0.01	-0.0484	15.1601	0.72778	0.0:0.7324:0.2676:0.0	.	102	Q99424	ACOX2_HUMAN	K	102	ENSP00000418562:E102K;ENSP00000307697:E102K;ENSP00000419927:E102K	ENSP00000307697:E102K	E	-	1	0	ACOX2	58495146	0.807000	0.29009	0.028000	0.17463	0.012000	0.07955	1.668000	0.37481	1.386000	0.46466	0.655000	0.94253	GAA	ACOX2	-	superfamily_AcylCoA_DH/oxidase,pirsf_Acyl-CoA_oxidase	ENSG00000168306		0.542	ACOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACOX2	HGNC	protein_coding	OTTHUMT00000353541.1	47	0.00	0	C			58520106	58520106	-1	no_errors	ENST00000302819	ensembl	human	known	69_37n	missense	63	25.00	21	SNP	0.300	T
ACSL4	2182	genome.wustl.edu	37	X	108926403	108926403	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:108926403C>G	ENST00000469796.2	-	3	709	c.313G>C	c.(313-315)Gaa>Caa	p.E105Q	ACSL4_ENST00000348502.6_Missense_Mutation_p.E64Q|ACSL4_ENST00000340800.2_Missense_Mutation_p.E105Q			O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	105					cellular lipid metabolic process (GO:0044255)|dendritic spine development (GO:0060996)|embryonic process involved in female pregnancy (GO:0060136)|fatty acid transport (GO:0015908)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|negative regulation of prostaglandin secretion (GO:0032307)|positive regulation of cell growth (GO:0030307)|response to interleukin-15 (GO:0070672)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|neuronal cell body (GO:0043025)|peroxisome (GO:0005777)	arachidonate-CoA ligase activity (GO:0047676)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Rosiglitazone(DB00412)	ATTTCATTTTCTTCACTTAGG	0.363																																					Pancreas(188;358 2127 38547 41466 45492)	dbGAP											0													101.0	91.0	95.0					X																	108926403		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC034959	CCDS14548.1, CCDS14549.1	Xq22.3-q23	2008-02-05	2004-02-19	2004-02-20	ENSG00000068366	ENSG00000068366		"""Acyl-CoA synthetase family"""	3571	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", "" long-chain fatty-acid-Coenzyme A ligase 4"""	300157	"""fatty-acid-Coenzyme A ligase, long-chain 4"", ""mental retardation, X-linked 63"", ""mental retardation, X-linked 68"""	FACL4, MRX63, MRX68		9480748, 12949969	Standard	NM_022977		Approved	ACS4, LACS4	uc004eoi.2	O60488	OTTHUMG00000022190	ENST00000469796.2:c.313G>C	X.37:g.108926403C>G	ENSP00000419171:p.Glu105Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DUY2|O60848|O60849|Q5JWV8	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.E105Q	ENST00000469796.2	37	c.313	CCDS14548.1	X	.	.	.	.	.	.	.	.	.	.	C	23.3	4.399577	0.83120	.	.	ENSG00000068366	ENST00000348502;ENST00000469796;ENST00000340800;ENST00000505855;ENST00000502391;ENST00000508092;ENST00000504980	T;T;T	0.35421	1.34;1.31;1.31	5.72	5.72	0.89469	.	0.043037	0.85682	D	0.000000	T	0.63105	0.2483	M	0.79926	2.475	0.80722	D	1	D	0.63046	0.992	D	0.65233	0.933	T	0.66799	-0.5832	10	0.62326	D	0.03	-26.9107	18.9065	0.92464	0.0:1.0:0.0:0.0	.	105	O60488	ACSL4_HUMAN	Q	64;105;105;64;105;105;105	ENSP00000262835:E64Q;ENSP00000419171:E105Q;ENSP00000339787:E105Q	ENSP00000339787:E105Q	E	-	1	0	ACSL4	108813059	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.484000	0.81180	2.412000	0.81896	0.523000	0.50628	GAA	ACSL4	-	NULL	ENSG00000068366		0.363	ACSL4-003	KNOWN	basic|CCDS	protein_coding	ACSL4	HGNC	protein_coding	OTTHUMT00000358155.2	142	0.70	1	C	NM_004458		108926403	108926403	-1	no_errors	ENST00000340800	ensembl	human	known	69_37n	missense	116	21.48	32	SNP	1.000	G
ACSL5	51703	genome.wustl.edu	37	10	114169397	114169397	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:114169397G>C	ENST00000393081.1	+	7	972	c.665G>C	c.(664-666)aGa>aCa	p.R222T	RP11-324O2.6_ENST00000424422.1_RNA|RP11-324O2.3_ENST00000598447.1_RNA|RP11-324O2.3_ENST00000449782.2_RNA|ACSL5_ENST00000433418.1_Missense_Mutation_p.R222T|ACSL5_ENST00000354655.4_Missense_Mutation_p.R222T|ACSL5_ENST00000354273.4_Missense_Mutation_p.R222T|RP11-324O2.3_ENST00000594870.2_RNA|ACSL5_ENST00000369410.3_5'UTR|ACSL5_ENST00000356116.1_Missense_Mutation_p.R278T	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	222					cellular lipid metabolic process (GO:0044255)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		CTGAAGCAAAGAGGGGAGAAG	0.468																																						dbGAP											0													191.0	170.0	177.0					10																	114169397		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033899	CCDS7572.1, CCDS7573.1	10q25.1-q25.2	2004-06-21	2004-02-19	2004-02-20	ENSG00000197142	ENSG00000197142		"""Acyl-CoA synthetase family"""	16526	protein-coding gene	gene with protein product	"""FACL5 for fatty acid coenzyme A ligase 5"", ""long-chain acyl-CoA synthetase 5"", ""long-chain fatty acid coenzyme A ligase 5"", ""fatty-acid-Coenzyme A ligase, long-chain 5"""	605677	"""fatty-acid-Coenzyme A ligase, long-chain 5"""	FACL5		11127823	Standard	NM_016234		Approved	ACS5, ACS2	uc001kzu.3	Q9ULC5	OTTHUMG00000019060	ENST00000393081.1:c.665G>C	10.37:g.114169397G>C	ENSP00000376796:p.Arg222Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6GV77|D3DRB3|Q6UX44|Q9UIU4	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.R278T	ENST00000393081.1	37	c.833	CCDS7573.1	10	.	.	.	.	.	.	.	.	.	.	G	16.31	3.087629	0.55968	.	.	ENSG00000197142	ENST00000354655;ENST00000393081;ENST00000356116;ENST00000433418;ENST00000354273	T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07	5.8	5.8	0.92144	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.43255	0.1239	M	0.72353	2.195	0.80722	D	1	B;B;B	0.32604	0.377;0.079;0.036	B;B;B	0.32465	0.146;0.056;0.055	T	0.26121	-1.0112	10	0.20046	T	0.44	-21.7641	15.0324	0.71717	0.0:0.143:0.857:0.0	.	222;278;222	A6GV77;Q9ULC5-3;Q9ULC5	.;.;ACSL5_HUMAN	T	222;222;278;222;222	ENSP00000346680:R222T;ENSP00000376796:R222T;ENSP00000348429:R278T;ENSP00000403647:R222T;ENSP00000346223:R222T	ENSP00000346223:R222T	R	+	2	0	ACSL5	114159387	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	4.400000	0.59709	2.744000	0.94065	0.591000	0.81541	AGA	ACSL5	-	pfam_AMP-dep_Synth/Lig	ENSG00000197142		0.468	ACSL5-203	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSL5	HGNC	protein_coding	OTTHUMT00000050386.1	73	0.00	0	G	NM_016234		114169397	114169397	+1	no_errors	ENST00000356116	ensembl	human	known	69_37n	missense	29	21.62	8	SNP	1.000	C
ACSL6	23305	genome.wustl.edu	37	5	131323825	131323825	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:131323825G>A	ENST00000379240.1	-	7	825	c.672C>T	c.(670-672)atC>atT	p.I224I	ACSL6_ENST00000379255.1_Silent_p.I189I|ACSL6_ENST00000379272.2_Silent_p.I239I|ACSL6_ENST00000379249.3_Silent_p.I224I|ACSL6_ENST00000379246.1_Silent_p.I235I|ACSL6_ENST00000544770.1_Silent_p.I133I|ACSL6_ENST00000543479.1_Silent_p.I224I|ACSL6_ENST00000296869.4_Silent_p.I249I|ACSL6_ENST00000379264.2_Silent_p.I249I|ACSL6_ENST00000379244.1_Silent_p.I224I|ACSL6_ENST00000357096.1_Silent_p.I189I|ACSL6_ENST00000431707.1_Silent_p.I204I			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	224					acyl-CoA metabolic process (GO:0006637)|cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|fatty acid transport (GO:0015908)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|phospholipid biosynthetic process (GO:0008654)|positive regulation of neuron projection development (GO:0010976)|positive regulation of plasma membrane long-chain fatty acid transport (GO:0010747)|positive regulation of triglyceride biosynthetic process (GO:0010867)|response to gravity (GO:0009629)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCATGAGGATGATCAGCTTGA	0.557																																						dbGAP											0													331.0	302.0	312.0					5																	131323825		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB020644	CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1	5q31	2008-02-05	2004-02-19	2004-02-20	ENSG00000164398	ENSG00000164398		"""Acyl-CoA synthetase family"""	16496	protein-coding gene	gene with protein product		604443	"""fatty-acid-Coenzyme A ligase, long-chain 6"""	FACL6		10502316, 10548543	Standard	NM_015256		Approved	KIAA0837, ACS2, LACS5, LACS2	uc003kvy.2	Q9UKU0	OTTHUMG00000150692	ENST00000379240.1:c.672C>T	5.37:g.131323825G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	J3KPG3|O94924|O95829|Q108M9|Q108N0|Q4G191|Q86TN7	Silent	SNP	pfam_AMP-dep_Synth/Lig	p.I249	ENST00000379240.1	37	c.747		5																																																																																			ACSL6	-	pfam_AMP-dep_Synth/Lig	ENSG00000164398		0.557	ACSL6-004	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	ACSL6	HGNC	protein_coding	OTTHUMT00000132622.1	100	0.00	0	G	NM_015256		131323825	131323825	-1	no_errors	ENST00000296869	ensembl	human	known	69_37n	silent	104	21.80	29	SNP	1.000	A
ACSM2A	123876	genome.wustl.edu	37	16	20476892	20476892	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:20476892G>T	ENST00000573854.1	+	3	345	c.231G>T	c.(229-231)aaG>aaT	p.K77N	ACSM2A_ENST00000575690.1_Missense_Mutation_p.K77N|ACSM2A_ENST00000424070.1_Missense_Mutation_p.K77N|ACSM2A_ENST00000219054.6_Missense_Mutation_p.K77N|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000396104.2_Missense_Mutation_p.K77N|ACSM2A_ENST00000417235.2_5'UTR	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	77					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GGAAGGGGAAGGAATTAATGT	0.577																																						dbGAP											0													60.0	60.0	60.0					16																	20476892		2203	4297	6500	-	-	-	SO:0001583	missense	0			AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.231G>T	16.37:g.20476892G>T	ENSP00000459451:p.Lys77Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KTT9|O75202	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.K77N	ENST00000573854.1	37	c.231	CCDS32401.1	16	.	.	.	.	.	.	.	.	.	.	G	9.406	1.079276	0.20227	.	.	ENSG00000183747	ENST00000219054;ENST00000424070;ENST00000396104	T;T;T	0.41065	1.01;1.01;1.01	3.76	-7.51	0.01346	.	1.868220	0.03018	N	0.150315	T	0.21145	0.0509	N	0.20986	0.625	0.20563	N	0.999885	B	0.02656	0.0	B	0.04013	0.001	T	0.09443	-1.0674	10	0.20046	T	0.44	0.6946	1.8241	0.03117	0.2261:0.3425:0.2839:0.1474	.	77	Q08AH3	ACS2A_HUMAN	N	77	ENSP00000219054:K77N;ENSP00000394904:K77N;ENSP00000379411:K77N	ENSP00000219054:K77N	K	+	3	2	ACSM2A	20384393	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-2.667000	0.00846	-1.545000	0.01719	0.298000	0.19748	AAG	ACSM2A	-	NULL	ENSG00000183747		0.577	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM2A	HGNC	protein_coding	OTTHUMT00000436764.1	207	0.48	1	G	NM_001010845		20476892	20476892	+1	no_errors	ENST00000219054	ensembl	human	known	69_37n	missense	162	21.74	45	SNP	0.001	T
ACSS2	55902	genome.wustl.edu	37	20	33509628	33509628	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:33509628G>C	ENST00000360596.2	+	13	1718	c.1507G>C	c.(1507-1509)Gag>Cag	p.E503Q	ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000336325.4_Missense_Mutation_p.E453Q|ACSS2_ENST00000253382.5_Missense_Mutation_p.E516Q	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	503					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|lipid biosynthetic process (GO:0008610)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	AATCCTGAATGAGTCCGGGGA	0.522																																						dbGAP											0													298.0	297.0	298.0					20																	33509628		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF263614	CCDS13243.1, CCDS42868.1, CCDS42868.2	20q11.22	2012-07-13	2005-09-08	2005-09-08	ENSG00000131069	ENSG00000131069	6.2.1.1	"""Acyl-CoA synthetase family"""	15814	protein-coding gene	gene with protein product		605832	"""acetyl-Coenzyme A synthetase 2 (ADP forming)"""	ACAS2		10843999	Standard	NM_018677		Approved	ACS, ACSA, AceCS, dJ1161H23.1	uc010gey.2	Q9NR19	OTTHUMG00000032317	ENST00000360596.2:c.1507G>C	20.37:g.33509628G>C	ENSP00000353804:p.Glu503Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NE90|Q5QPH2|Q5QPH3|Q8N238|Q96EL0|Q9NQP7|Q9UJ15	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_Acyl-CoA_synth_DUF3448,tigrfam_Ac_CoA_lig	p.E503Q	ENST00000360596.2	37	c.1507	CCDS13243.1	20	.	.	.	.	.	.	.	.	.	.	G	23.4	4.415009	0.83449	.	.	ENSG00000131069	ENST00000336325;ENST00000360596;ENST00000374693;ENST00000542204;ENST00000253382	T;T;T	0.45276	0.9;2.67;2.67	5.37	5.37	0.77165	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.66436	0.2789	M	0.81239	2.535	0.80722	D	1	D;D	0.59357	0.985;0.985	P;D	0.64410	0.889;0.925	T	0.65627	-0.6122	10	0.42905	T	0.14	-24.9876	19.3116	0.94189	0.0:0.0:1.0:0.0	.	516;503	Q5QPH3;Q9NR19	.;ACSA_HUMAN	Q	453;503;501;211;516	ENSP00000337190:E453Q;ENSP00000353804:E503Q;ENSP00000253382:E516Q	ENSP00000253382:E516Q	E	+	1	0	ACSS2	32973289	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.601000	0.98297	2.808000	0.96608	0.650000	0.86243	GAG	ACSS2	-	pfam_AMP-dep_Synth/Lig,tigrfam_Ac_CoA_lig	ENSG00000131069		0.522	ACSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSS2	HGNC	protein_coding	OTTHUMT00000078823.3	181	0.55	1	G	NM_018677		33509628	33509628	+1	no_errors	ENST00000360596	ensembl	human	known	69_37n	missense	247	16.55	49	SNP	1.000	C
ACSS3	79611	genome.wustl.edu	37	12	81627231	81627231	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:81627231C>G	ENST00000548058.1	+	13	2610	c.1700C>G	c.(1699-1701)tCt>tGt	p.S567C	ACSS3_ENST00000548324.1_Missense_Mutation_p.S249C|ACSS3_ENST00000261206.3_Missense_Mutation_p.S566C			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	567						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						CACAGAATTTCTGCAGGCGCC	0.388																																						dbGAP											0													208.0	204.0	205.0					12																	81627231		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"""Acyl-CoA synthetase family"""	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.1700C>G	12.37:g.81627231C>G	ENSP00000449535:p.Ser567Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NC66	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_Acyl-CoA_synth_DUF3448	p.S567C	ENST00000548058.1	37	c.1700	CCDS9022.1	12	.	.	.	.	.	.	.	.	.	.	C	25.3	4.619196	0.87460	.	.	ENSG00000111058	ENST00000548058;ENST00000261206;ENST00000548324	T;T;T	0.54279	2.64;2.64;0.58	5.84	5.84	0.93424	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.81173	0.4767	M	0.93150	3.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	D	0.85212	0.1021	10	0.87932	D	0	-14.1268	19.7715	0.96367	0.0:1.0:0.0:0.0	.	249;567	Q9H6R3-2;Q9H6R3	.;ACSS3_HUMAN	C	567;566;249	ENSP00000449535:S567C;ENSP00000261206:S566C;ENSP00000448965:S249C	ENSP00000261206:S566C	S	+	2	0	ACSS3	80151362	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.340000	0.79292	2.777000	0.95525	0.650000	0.86243	TCT	ACSS3	-	pfam_AMP-dep_Synth/Lig	ENSG00000111058		0.388	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACSS3	HGNC	protein_coding	OTTHUMT00000407794.1	149	0.00	0	C	NM_024560		81627231	81627231	+1	no_errors	ENST00000548058	ensembl	human	known	69_37n	missense	146	17.05	30	SNP	1.000	G
ACSS3	79611	genome.wustl.edu	37	12	81647431	81647431	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:81647431C>T	ENST00000548058.1	+	15	2887	c.1977C>T	c.(1975-1977)gtC>gtT	p.V659V	ACSS3_ENST00000548324.1_Silent_p.V341V|ACSS3_ENST00000261206.3_Silent_p.V658V			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	659						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						CTGCCATTGTCAATGGCAAGC	0.403																																						dbGAP											0													65.0	68.0	67.0					12																	81647431		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"""Acyl-CoA synthetase family"""	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.1977C>T	12.37:g.81647431C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NC66	Silent	SNP	pfam_AMP-dep_Synth/Lig,pfam_Acyl-CoA_synth_DUF3448	p.V659	ENST00000548058.1	37	c.1977	CCDS9022.1	12																																																																																			ACSS3	-	NULL	ENSG00000111058		0.403	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACSS3	HGNC	protein_coding	OTTHUMT00000407794.1	34	0.00	0	C	NM_024560		81647431	81647431	+1	no_errors	ENST00000548058	ensembl	human	known	69_37n	silent	50	26.47	18	SNP	0.999	T
ACTB	60	genome.wustl.edu	37	7	5568351	5568351	+	Splice_Site	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:5568351C>A	ENST00000331789.5	-	4	555		c.e4-1		AC006483.1_ENST00000579427.1_RNA|ACTB_ENST00000464611.1_5'Flank	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta						adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		CAAACATGATCTGTAAGGCAG	0.552																																						dbGAP											0													76.0	79.0	78.0					7																	5568351		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			M28424	CCDS5341.1	7p22	2014-09-17			ENSG00000075624	ENSG00000075624			132	protein-coding gene	gene with protein product		102630				1505215	Standard	NM_001101		Approved		uc003sot.4	P60709	OTTHUMG00000023268	ENST00000331789.5:c.364-1G>T	7.37:g.5568351C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Splice_Site	SNP	-	e3-1	ENST00000331789.5	37	c.364-1	CCDS5341.1	7	.	.	.	.	.	.	.	.	.	.	C	15.86	2.956969	0.53293	.	.	ENSG00000075624	ENST00000331789;ENST00000445914;ENST00000400179;ENST00000320713;ENST00000432588	.	.	.	4.77	4.77	0.60923	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6962	0.77502	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ACTB	5534877	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	7.622000	0.83099	2.382000	0.81193	0.556000	0.70494	.	ACTB	-	-	ENSG00000075624		0.552	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTB	HGNC	protein_coding	OTTHUMT00000059589.4	25	0.00	0	C	NM_001101	Intron	5568351	5568351	-1	no_errors	ENST00000331789	ensembl	human	known	69_37n	splice_site	27	20.59	7	SNP	1.000	A
ACTG2	72	genome.wustl.edu	37	2	74141838	74141838	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:74141838G>C	ENST00000409624.1	+	8	1288	c.645G>C	c.(643-645)gaG>gaC	p.E215D	ACTG2_ENST00000345517.3_Missense_Mutation_p.E215D|ACTG2_ENST00000409731.3_Missense_Mutation_p.E172D			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	215					muscle contraction (GO:0006936)	blood microparticle (GO:0072562)|cell periphery (GO:0071944)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			large_intestine(3)|lung(14)|skin(1)	18						ACATCAAGGAGAAGCTGTGCT	0.488																																						dbGAP											0													89.0	84.0	86.0					2																	74141838		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1930.1, CCDS56124.1	2p13.1	2008-05-20			ENSG00000163017	ENSG00000163017			145	protein-coding gene	gene with protein product		102545		ACTL3, ACTA3		1710027, 1673027	Standard	NM_001199893		Approved	ACTSG	uc002sjw.3	P63267	OTTHUMG00000129813	ENST00000409624.1:c.645G>C	2.37:g.74141838G>C	ENSP00000386857:p.Glu215Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7E7|B4E315|D6W5H8|E9PG30|P12718|Q504R1|Q6FI22	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.E215D	ENST00000409624.1	37	c.645	CCDS1930.1	2	.	.	.	.	.	.	.	.	.	.	G	14.64	2.595189	0.46318	.	.	ENSG00000163017	ENST00000409731;ENST00000345517;ENST00000409624	D;D;D	0.96104	-3.91;-3.91;-3.91	4.59	2.79	0.32731	.	0.000000	0.85682	D	0.000000	D	0.98463	0.9488	H	0.99211	4.47	0.34338	D	0.688466	D;D	0.89917	1.0;0.996	D;D	0.97110	1.0;0.998	D	0.98126	1.0428	10	0.87932	D	0	.	7.9222	0.29852	0.2626:0.0:0.7374:0.0	.	172;215	E9PG30;P63267	.;ACTH_HUMAN	D	172;215;215	ENSP00000386929:E172D;ENSP00000295137:E215D;ENSP00000386857:E215D	ENSP00000295137:E215D	E	+	3	2	ACTG2	73995346	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.509000	0.45459	0.664000	0.31047	0.462000	0.41574	GAG	ACTG2	-	pfam_Actin-like,smart_Actin-like	ENSG00000163017		0.488	ACTG2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACTG2	HGNC	protein_coding	OTTHUMT00000328086.1	71	0.00	0	G	NM_001615		74141838	74141838	+1	no_errors	ENST00000345517	ensembl	human	known	69_37n	missense	82	25.45	28	SNP	1.000	C
ACTL7B	10880	genome.wustl.edu	37	9	111618099	111618099	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:111618099G>C	ENST00000374667.3	-	1	1140	c.112C>G	c.(112-114)Cag>Gag	p.Q38E		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	38						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						ATCTTGAGCTGAGTGGCCGCA	0.667																																						dbGAP											0													91.0	90.0	90.0					9																	111618099		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC033789	CCDS6771.1	9q31	2009-05-15			ENSG00000148156	ENSG00000148156			162	protein-coding gene	gene with protein product		604304				10373328, 12907721	Standard	NM_006686		Approved	Tact1	uc004bdi.3	Q9Y614	OTTHUMG00000020462	ENST00000374667.3:c.112C>G	9.37:g.111618099G>C	ENSP00000363799:p.Gln38Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9Q2|Q5JSV1	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.Q38E	ENST00000374667.3	37	c.112	CCDS6771.1	9	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.633324	0.00806	.	.	ENSG00000148156	ENST00000374667	D	0.94758	-3.51	4.13	4.13	0.48395	.	0.777035	0.10250	U	0.697360	D	0.92189	0.7523	L	0.50333	1.59	0.09310	N	1	B	0.19817	0.039	B	0.16289	0.015	D	0.86109	0.1561	10	0.87932	D	0	.	11.7624	0.51912	0.0:0.0:1.0:0.0	.	38	Q9Y614	ACL7B_HUMAN	E	38	ENSP00000363799:Q38E	ENSP00000363799:Q38E	Q	-	1	0	ACTL7B	110657920	0.000000	0.05858	0.140000	0.22221	0.009000	0.06853	0.457000	0.21875	2.142000	0.66516	0.655000	0.94253	CAG	ACTL7B	-	NULL	ENSG00000148156		0.667	ACTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTL7B	HGNC	protein_coding	OTTHUMT00000053571.1	40	0.00	0	G	NM_006686		111618099	111618099	-1	no_errors	ENST00000374667	ensembl	human	known	69_37n	missense	45	16.67	9	SNP	0.043	C
ACTN2	88	genome.wustl.edu	37	1	236898986	236898986	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:236898986C>G	ENST00000366578.4	+	8	915	c.749C>G	c.(748-750)tCt>tGt	p.S250C	ACTN2_ENST00000546208.1_Intron|ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000542672.1_Intron	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	250	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				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)			ACGTACGTCTCTTGCTTCTAC	0.522																																						dbGAP											0													188.0	138.0	155.0					1																	236898986		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.749C>G	1.37:g.236898986C>G	ENSP00000355537:p.Ser250Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	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.S250C	ENST00000366578.4	37	c.749	CCDS1613.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.131426	0.94473	.	.	ENSG00000077522	ENST00000366578	D	0.95307	-3.67	5.38	5.38	0.77491	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.98108	0.9376	M	0.93375	3.41	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.98869	1.0765	10	0.87932	D	0	.	19.4894	0.95044	0.0:1.0:0.0:0.0	.	250	P35609	ACTN2_HUMAN	C	250	ENSP00000355537:S250C	ENSP00000355537:S250C	S	+	2	0	ACTN2	234965609	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.776000	0.85560	2.677000	0.91161	0.650000	0.86243	TCT	ACTN2	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000077522		0.522	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACTN2	HGNC	protein_coding	OTTHUMT00000096628.1	116	0.00	0	C	NM_001103		236898986	236898986	+1	no_errors	ENST00000366578	ensembl	human	known	69_37n	missense	120	13.67	19	SNP	1.000	G
ACTN2	88	genome.wustl.edu	37	1	236908062	236908062	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:236908062C>T	ENST00000366578.4	+	12	1558	c.1392C>T	c.(1390-1392)atC>atT	p.I464I	ACTN2_ENST00000546208.1_5'UTR|ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000542672.1_Silent_p.I464I	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	464					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)			TCGCAGCCATCGCGCAGGAGC	0.657																																						dbGAP											0													58.0	50.0	53.0					1																	236908062		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			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.1392C>T	1.37:g.236908062C>T		Somatic		WXS	Illumina GAIIx	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.I464	ENST00000366578.4	37	c.1392	CCDS1613.1	1																																																																																			ACTN2	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000077522		0.657	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACTN2	HGNC	protein_coding	OTTHUMT00000096628.1	30	0.00	0	C	NM_001103		236908062	236908062	+1	no_errors	ENST00000366578	ensembl	human	known	69_37n	silent	42	17.65	9	SNP	0.993	T
ACTN3	89	genome.wustl.edu	37	11	66324666	66324666	+	lincRNA	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:66324666G>A	ENST00000504911.1	-	0	1160				ACTN3_ENST00000502692.1_RNA|ACTN3_ENST00000513398.1_RNA																							ACGAGAAGCTGATGGAGGAGT	0.592																																						dbGAP											0													58.0	67.0	64.0					11																	66324666		2003	4097	6100	-	-	-			0																															11.37:g.66324666G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.L332	ENST00000504911.1	37	c.996		11																																																																																			ACTN3	-	NULL	ENSG00000248746		0.592	CTD-3074O7.2-001	KNOWN	basic|exp_conf	lincRNA	ACTN3	HGNC	lincRNA	OTTHUMT00000362463.1	54	0.00	0	G			66324666	66324666	+1	pseudogene	ENST00000502692	ensembl	human	known	69_37n	silent	75	20.21	19	SNP	1.000	A
ACTN3	89	genome.wustl.edu	37	11	66324679	66324679	+	lincRNA	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:66324679G>C	ENST00000504911.1	-	0	1160				ACTN3_ENST00000502692.1_RNA|ACTN3_ENST00000513398.1_RNA																							GGAGGAGTATGAGAAGCTTGC	0.617																																						dbGAP											0													59.0	69.0	66.0					11																	66324679		2013	4080	6093	-	-	-			0																															11.37:g.66324679G>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.E337Q	ENST00000504911.1	37	c.1009		11																																																																																			ACTN3	-	NULL	ENSG00000248746		0.617	CTD-3074O7.2-001	KNOWN	basic|exp_conf	lincRNA	ACTN3	HGNC	lincRNA	OTTHUMT00000362463.1	54	0.00	0	G			66324679	66324679	+1	pseudogene	ENST00000502692	ensembl	human	known	69_37n	missense	68	24.44	22	SNP	1.000	C
ACTR3	10096	genome.wustl.edu	37	2	114691862	114691862	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:114691862C>G	ENST00000263238.2	+	6	759	c.439C>G	c.(439-441)Ctt>Gtt	p.L147V	ACTR3_ENST00000536059.1_Missense_Mutation_p.L85V|ACTR3_ENST00000535589.2_Missense_Mutation_p.L96V	NM_001277140.1|NM_005721.3	NP_001264069.1|NP_005712.1	P61158	ARP3_HUMAN	ARP3 actin-related protein 3 homolog (yeast)	147					Arp2/3 complex-mediated actin nucleation (GO:0034314)|asymmetric cell division (GO:0008356)|cellular component movement (GO:0006928)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|meiotic chromosome movement towards spindle pole (GO:0016344)|meiotic cytokinesis (GO:0033206)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neuron differentiation (GO:0045666)|regulation of myosin II filament organization (GO:0043519)|response to antibiotic (GO:0046677)|response to carbohydrate (GO:0009743)|spindle localization (GO:0051653)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|excitatory synapse (GO:0060076)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|hemidesmosome (GO:0030056)|lamellipodium (GO:0030027)|membrane (GO:0016020)|podosome (GO:0002102)	ATP binding (GO:0005524)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(2)	15						CAAGGCTGTTCTTGCCTTAGC	0.393																																						dbGAP											0													203.0	188.0	193.0					2																	114691862		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF006083	CCDS33277.1, CCDS63000.1	2q14.1	2010-07-20	2001-11-28		ENSG00000115091	ENSG00000115091			170	protein-coding gene	gene with protein product		604222	"""ARP3 (actin-related protein 3, yeast) homolog"""			9230079	Standard	NM_005721		Approved	ARP3	uc002tkx.2	P61158	OTTHUMG00000153497	ENST00000263238.2:c.439C>G	2.37:g.114691862C>G	ENSP00000263238:p.Leu147Val	Somatic		WXS	Illumina GAIIx	Phase_IV	P32391|Q53QM2	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like	p.L147V	ENST00000263238.2	37	c.439	CCDS33277.1	2	.	.	.	.	.	.	.	.	.	.	C	20.9	4.064836	0.76187	.	.	ENSG00000115091	ENST00000263238;ENST00000536059;ENST00000544784;ENST00000535589	D;D;D	0.96334	-3.98;-3.98;-3.98	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	D	0.98707	0.9566	H	0.97315	3.98	0.50039	D	0.999843	D;P	0.54601	0.967;0.951	P;P	0.59761	0.727;0.863	D	0.99709	1.1006	10	0.87932	D	0	-24.0068	18.4376	0.90652	0.0:1.0:0.0:0.0	.	85;147	F5H3P5;P61158	.;ARP3_HUMAN	V	147;85;18;96	ENSP00000263238:L147V;ENSP00000445257:L85V;ENSP00000444987:L96V	ENSP00000263238:L147V	L	+	1	0	ACTR3	114408332	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.488000	0.60300	2.592000	0.87571	0.585000	0.79938	CTT	ACTR3	-	pfam_Actin-like,smart_Actin-like	ENSG00000115091		0.393	ACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTR3	HGNC	protein_coding	OTTHUMT00000331366.2	55	0.00	0	C	NM_005721		114691862	114691862	+1	no_errors	ENST00000263238	ensembl	human	known	69_37n	missense	63	12.16	9	SNP	1.000	G
ACTRT3	84517	genome.wustl.edu	37	3	169485525	169485525	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:169485525C>T	ENST00000330368.2	-	2	1188	c.814G>A	c.(814-816)Gat>Aat	p.D272N	TERC_ENST00000602385.1_lincRNA|RP11-816J6.3_ENST00000602879.1_RNA	NM_032487.4	NP_115876.3	Q9BYD9	ACTT3_HUMAN	actin-related protein T3	272						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)											CATATCTTATCAATGCCAGGG	0.483																																						dbGAP											0													89.0	102.0	97.0					3																	169485525		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK055346	CCDS3206.1	3q26.2	2012-04-10			ENSG00000184378	ENSG00000184378			24022	protein-coding gene	gene with protein product	"""actin related protein M1"""	608534				11750065, 18692047	Standard	NM_032487		Approved	ARPM1	uc003ffs.2	Q9BYD9		ENST00000330368.2:c.814G>A	3.37:g.169485525C>T	ENSP00000333037:p.Asp272Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96IS0|Q96NJ0	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.D272N	ENST00000330368.2	37	c.814	CCDS3206.1	3	.	.	.	.	.	.	.	.	.	.	C	14.48	2.549219	0.45383	.	.	ENSG00000184378	ENST00000330368	D	0.94280	-3.39	5.25	3.33	0.38152	.	0.110734	0.40064	N	0.001187	D	0.95262	0.8463	M	0.67700	2.07	0.33494	D	0.589092	D	0.57571	0.98	P	0.61800	0.894	D	0.97771	1.0226	10	0.87932	D	0	.	14.5125	0.67797	0.0:0.5929:0.4071:0.0	.	272	Q9BYD9	ARPM1_HUMAN	N	272	ENSP00000333037:D272N	ENSP00000333037:D272N	D	-	1	0	AC078802.1	170968219	0.942000	0.31987	0.981000	0.43875	0.180000	0.23129	1.723000	0.38053	1.409000	0.46915	0.561000	0.74099	GAT	ACTRT3	-	pfam_Actin-like,smart_Actin-like	ENSG00000184378		0.483	ACTRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTRT3	HGNC	protein_coding	OTTHUMT00000467797.1	69	0.00	0	C	NM_032487		169485525	169485525	-1	no_errors	ENST00000330368	ensembl	human	known	69_37n	missense	73	31.78	34	SNP	1.000	T
ACTRT3	84517	genome.wustl.edu	37	3	169485916	169485916	+	Silent	SNP	G	G	A	rs551695285		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:169485916G>A	ENST00000330368.2	-	2	797	c.423C>T	c.(421-423)ctC>ctT	p.L141L	RP11-816J6.3_ENST00000602879.1_RNA	NM_032487.4	NP_115876.3	Q9BYD9	ACTT3_HUMAN	actin-related protein T3	141						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)											CAGCAGCAAAGAGAGCCAGCA	0.537																																						dbGAP											0													87.0	84.0	85.0					3																	169485916		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AK055346	CCDS3206.1	3q26.2	2012-04-10			ENSG00000184378	ENSG00000184378			24022	protein-coding gene	gene with protein product	"""actin related protein M1"""	608534				11750065, 18692047	Standard	NM_032487		Approved	ARPM1	uc003ffs.2	Q9BYD9		ENST00000330368.2:c.423C>T	3.37:g.169485916G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96IS0|Q96NJ0	Silent	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.L141	ENST00000330368.2	37	c.423	CCDS3206.1	3																																																																																			ACTRT3	-	pfam_Actin-like,smart_Actin-like,prints_Actin-like	ENSG00000184378		0.537	ACTRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTRT3	HGNC	protein_coding	OTTHUMT00000467797.1	84	0.00	0	G	NM_032487		169485916	169485916	-1	no_errors	ENST00000330368	ensembl	human	known	69_37n	silent	94	18.97	22	SNP	1.000	A
ACTRT3	84517	genome.wustl.edu	37	3	169487268	169487268	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:169487268G>T	ENST00000330368.2	-	1	415	c.41C>A	c.(40-42)tCg>tAg	p.S14*	RP11-816J6.3_ENST00000602879.1_RNA	NM_032487.4	NP_115876.3	Q9BYD9	ACTT3_HUMAN	actin-related protein T3	14						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)		p.S14W(1)									GATCATTCCCGAGCCGTTGTC	0.692																																						dbGAP											1	Substitution - Missense(1)	lung(1)											25.0	33.0	30.0					3																	169487268		2163	4253	6416	-	-	-	SO:0001587	stop_gained	0			AK055346	CCDS3206.1	3q26.2	2012-04-10			ENSG00000184378	ENSG00000184378			24022	protein-coding gene	gene with protein product	"""actin related protein M1"""	608534				11750065, 18692047	Standard	NM_032487		Approved	ARPM1	uc003ffs.2	Q9BYD9		ENST00000330368.2:c.41C>A	3.37:g.169487268G>T	ENSP00000333037:p.Ser14*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96IS0|Q96NJ0	Nonsense_Mutation	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.S14*	ENST00000330368.2	37	c.41	CCDS3206.1	3	.	.	.	.	.	.	.	.	.	.	G	39	7.478955	0.98309	.	.	ENSG00000184378	ENST00000330368	.	.	.	4.4	4.4	0.53042	.	0.000000	0.41001	D	0.000968	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.2788	0.82658	0.0:0.0:1.0:0.0	.	.	.	.	X	14	.	ENSP00000333037:S14X	S	-	2	0	AC078802.1	170969962	1.000000	0.71417	0.969000	0.41365	0.559000	0.35586	9.244000	0.95423	2.438000	0.82558	0.555000	0.69702	TCG	ACTRT3	-	pfam_Actin-like,smart_Actin-like	ENSG00000184378		0.692	ACTRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTRT3	HGNC	protein_coding	OTTHUMT00000467797.1	27	0.00	0	G	NM_032487		169487268	169487268	-1	no_errors	ENST00000330368	ensembl	human	known	69_37n	nonsense	11	35.29	6	SNP	1.000	T
ACVR1B	91	genome.wustl.edu	37	12	52370122	52370122	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:52370122G>T	ENST00000257963.4	+	3	420	c.343G>T	c.(343-345)Gag>Tag	p.E115*	ACVR1B_ENST00000542485.1_Nonsense_Mutation_p.E63*|ACVR1B_ENST00000415850.2_Nonsense_Mutation_p.E115*|ACVR1B_ENST00000541224.1_Nonsense_Mutation_p.E115*|ACVR1B_ENST00000426655.2_Nonsense_Mutation_p.E115*	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	115					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)	TCACCTCAAGGAGCCTGAGCA	0.512																																						dbGAP											0													77.0	80.0	79.0					12																	52370122		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				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.343G>T	12.37:g.52370122G>T	ENSP00000257963:p.Glu115*	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z5L8|B7Z5W5|Q15479|Q15480|Q15481|Q15482	Nonsense_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.E115*	ENST00000257963.4	37	c.343	CCDS8816.1	12	.	.	.	.	.	.	.	.	.	.	G	18.94	3.728739	0.69074	.	.	ENSG00000135503	ENST00000257963;ENST00000541224;ENST00000426655;ENST00000536420;ENST00000415850;ENST00000542485	.	.	.	5.02	4.12	0.48240	.	0.560755	0.19183	N	0.120627	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	16.2282	0.82315	0.0:0.1336:0.8664:0.0	.	.	.	.	X	115;115;115;63;115;63	.	ENSP00000257963:E115X	E	+	1	0	ACVR1B	50656389	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	2.466000	0.45084	1.416000	0.47057	0.462000	0.41574	GAG	ACVR1B	-	NULL	ENSG00000135503		0.512	ACVR1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ACVR1B	HGNC	protein_coding	OTTHUMT00000397000.1	106	0.00	0	G	NM_020328		52370122	52370122	+1	no_errors	ENST00000257963	ensembl	human	known	69_37n	nonsense	102	17.74	22	SNP	1.000	T
ACYP1	97	genome.wustl.edu	37	14	75530175	75530175	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:75530175G>C	ENST00000238618.3	-	2	185	c.82C>G	c.(82-84)Cag>Gag	p.Q28E	ACYP1_ENST00000555463.1_Missense_Mutation_p.Q58E|ACYP1_ENST00000357971.3_Missense_Mutation_p.Q28E|ACYP1_ENST00000555135.1_Missense_Mutation_p.Q28E|ACYP1_ENST00000555694.1_Missense_Mutation_p.Q28E|ACYP1_ENST00000553302.1_Missense_Mutation_p.Q28E	NM_001107.3	NP_001098.1	P07311	ACYP1_HUMAN	acylphosphatase 1, erythrocyte (common) type	28	Acylphosphatase-like. {ECO:0000255|PROSITE-ProRule:PRU00520}.				phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)	acylphosphatase activity (GO:0003998)			large_intestine(2)	2				BRCA - Breast invasive adenocarcinoma(234;0.00646)		CCACATACCTGAGTATGCTTA	0.473																																						dbGAP											0													133.0	114.0	121.0					14																	75530175		2203	4300	6503	-	-	-	SO:0001583	missense	0			X84194	CCDS9838.1, CCDS45137.1	14q24.3	2014-08-08			ENSG00000119640	ENSG00000119640	3.6.1.7		179	protein-coding gene	gene with protein product		600875				7796909, 9730610	Standard	NM_001107		Approved		uc001xrg.3	P07311	OTTHUMG00000171767	ENST00000238618.3:c.82C>G	14.37:g.75530175G>C	ENSP00000238618:p.Gln28Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDV8|B2R590	Missense_Mutation	SNP	pfam_Acylphosphatase-like,superfamily_Acylphosphatase-like,prints_Acylphosphatase,pfscan_Acylphosphatase-like	p.Q28E	ENST00000238618.3	37	c.82	CCDS9838.1	14	.	.	.	.	.	.	.	.	.	.	G	9.845	1.192029	0.21954	.	.	ENSG00000119640	ENST00000238618;ENST00000555463;ENST00000357971;ENST00000555694;ENST00000555135;ENST00000553302	.	.	.	5.42	5.42	0.78866	Acylphosphatase-like (3);	0.000000	0.85682	D	0.000000	T	0.72867	0.3514	.	.	.	0.58432	D	0.999998	B;D	0.69078	0.033;0.997	B;D	0.79108	0.04;0.992	T	0.63910	-0.6530	8	0.09338	T	0.73	-7.0236	19.4084	0.94658	0.0:0.0:1.0:0.0	.	28;28	P07311;A6NDV8	ACYP1_HUMAN;.	E	28;58;28;28;28;28	.	ENSP00000238618:Q28E	Q	-	1	0	ACYP1	74599928	1.000000	0.71417	0.997000	0.53966	0.724000	0.41520	8.576000	0.90770	2.820000	0.97059	0.650000	0.86243	CAG	ACYP1	-	pfam_Acylphosphatase-like,superfamily_Acylphosphatase-like,pfscan_Acylphosphatase-like	ENSG00000119640		0.473	ACYP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACYP1	HGNC	protein_coding	OTTHUMT00000415013.1	87	0.00	0	G			75530175	75530175	-1	no_errors	ENST00000238618	ensembl	human	known	69_37n	missense	75	21.65	21	SNP	1.000	C
ADAM12	8038	genome.wustl.edu	37	10	127797215	127797215	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:127797215C>G	ENST00000368679.4	-	8	1006	c.697G>C	c.(697-699)Gat>Cat	p.D233H	ADAM12_ENST00000368676.4_Missense_Mutation_p.D233H	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	233	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		TTTTCCAGATCTTTTCCTTGC	0.338																																						dbGAP											0													164.0	148.0	153.0					10																	127797215		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"""ADAM metallopeptidase domain containing"""	190	protein-coding gene	gene with protein product	"""meltrin alpha"""	602714	"""a disintegrin and metalloproteinase domain 12 (meltrin alpha)"""			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.697G>C	10.37:g.127797215C>G	ENSP00000357668:p.Asp233His	Somatic		WXS	Illumina GAIIx	Phase_IV	O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,prints_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.D233H	ENST00000368679.4	37	c.697	CCDS7653.1	10	.	.	.	.	.	.	.	.	.	.	C	25.0	4.596064	0.86953	.	.	ENSG00000148848	ENST00000368679;ENST00000368676;ENST00000448723	D;D;T	0.87966	-2.32;-2.32;-0.27	5.17	5.17	0.71159	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.94072	0.8100	M	0.82923	2.615	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	D	0.94570	0.7770	10	0.87932	D	0	.	18.8656	0.92290	0.0:1.0:0.0:0.0	.	230;233;230;233	O43184-3;O43184-2;O43184-4;O43184	.;.;.;ADA12_HUMAN	H	233;233;230	ENSP00000357668:D233H;ENSP00000357665:D233H;ENSP00000391268:D230H	ENSP00000357665:D233H	D	-	1	0	ADAM12	127787205	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	5.927000	0.70080	2.678000	0.91216	0.655000	0.94253	GAT	ADAM12	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000148848		0.338	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM12	HGNC	protein_coding	OTTHUMT00000050961.1	160	0.00	0	C			127797215	127797215	-1	no_errors	ENST00000368679	ensembl	human	known	69_37n	missense	63	32.98	31	SNP	1.000	G
ADAM21	8747	genome.wustl.edu	37	14	70925044	70925044	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:70925044G>C	ENST00000603540.1	+	2	1086	c.828G>C	c.(826-828)ctG>ctC	p.L276L	ADAM21_ENST00000267499.3_Silent_p.L276L|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	276	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		AACAGGTCCTGAACGATTTCT	0.348																																						dbGAP											0													79.0	76.0	77.0					14																	70925044		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"""ADAM metallopeptidase domain containing"""	200	protein-coding gene	gene with protein product		603713	"""a disintegrin and metalloproteinase domain 21"""			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.828G>C	14.37:g.70925044G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O43507|Q2VPC6|Q32MR0	Silent	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,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_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.L276	ENST00000603540.1	37	c.828	CCDS9804.1	14																																																																																			ADAM21	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000139985		0.348	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM21	HGNC	protein_coding	OTTHUMT00000413008.3	49	0.00	0	G			70925044	70925044	+1	no_errors	ENST00000267499	ensembl	human	known	69_37n	silent	33	31.25	15	SNP	0.195	C
ADAM29	11086	genome.wustl.edu	37	4	175896721	175896721	+	Silent	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:175896721C>A	ENST00000359240.3	+	5	715	c.45C>A	c.(43-45)tcC>tcA	p.S15S	RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000445694.1_Silent_p.S15S|ADAM29_ENST00000514159.1_Silent_p.S15S|ADAM29_ENST00000404450.4_Silent_p.S15S	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	15					spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TGTTTCTGTCCTGTTCTGGAC	0.493																																					Ovarian(140;1727 1835 21805 25838 41440)	dbGAP											0													120.0	120.0	120.0					4																	175896721		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.45C>A	4.37:g.175896721C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Silent	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,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_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.S15	ENST00000359240.3	37	c.45	CCDS3823.1	4																																																																																			ADAM29	-	NULL	ENSG00000168594		0.493	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ADAM29	HGNC	protein_coding		88	0.00	0	C			175896721	175896721	+1	no_errors	ENST00000359240	ensembl	human	known	69_37n	silent	48	27.27	18	SNP	0.000	A
ADAMTS10	81794	genome.wustl.edu	37	19	8660696	8660696	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:8660696C>T	ENST00000597188.1	-	12	1699	c.1429G>A	c.(1429-1431)Gag>Aag	p.E477K	ADAMTS10_ENST00000270328.4_Missense_Mutation_p.E477K|ADAMTS10_ENST00000596709.1_5'Flank	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	477	Disintegrin.					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						CGGCATTGCTCATCTGCATCG	0.612																																						dbGAP											0													152.0	147.0	149.0					19																	8660696		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.1429G>A	19.37:g.8660696C>T	ENSP00000471851:p.Glu477Lys	Somatic		WXS	Illumina GAIIx	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.E477K	ENST00000597188.1	37	c.1429	CCDS12206.1	19	.	.	.	.	.	.	.	.	.	.	C	24.6	4.553974	0.86231	.	.	ENSG00000142303	ENST00000270328;ENST00000393912	T	0.07567	3.18	4.4	4.4	0.53042	Metallopeptidase, catalytic domain (1);	0.063654	0.64402	D	0.000010	T	0.10294	0.0252	L	0.35593	1.075	0.80722	D	1	B;P	0.37612	0.428;0.602	B;B	0.42851	0.065;0.4	T	0.32079	-0.9920	10	0.25751	T	0.34	.	16.1437	0.81548	0.0:1.0:0.0:0.0	.	231;477	Q59FE5;Q9H324	.;ATS10_HUMAN	K	477;231	ENSP00000270328:E477K	ENSP00000270328:E477K	E	-	1	0	ADAMTS10	8566696	1.000000	0.71417	0.895000	0.35142	0.909000	0.53808	7.298000	0.78815	2.277000	0.76020	0.313000	0.20887	GAG	ADAMTS10	-	NULL	ENSG00000142303		0.612	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS10	HGNC	protein_coding	OTTHUMT00000460085.3	60	0.00	0	C	NM_030957		8660696	8660696	-1	no_errors	ENST00000270328	ensembl	human	known	69_37n	missense	47	17.54	10	SNP	1.000	T
ADAMTS12	81792	genome.wustl.edu	37	5	33658341	33658341	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:33658341C>T	ENST00000504830.1	-	7	1473	c.1138G>A	c.(1138-1140)Gaa>Aaa	p.E380K	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.E380K|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	380	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				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)	p.E380K(1)		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						CCCGAATCTTCATTGATGTTA	0.507										HNSCC(64;0.19)																												dbGAP											1	Substitution - Missense(1)	lung(1)											141.0	142.0	141.0					5																	33658341		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.1138G>A	5.37:g.33658341C>T	ENSP00000422554:p.Glu380Lys	Somatic		WXS	Illumina GAIIx	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.E380K	ENST00000504830.1	37	c.1138	CCDS34140.1	5	.	.	.	.	.	.	.	.	.	.	C	36	5.635874	0.96682	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	D;D	0.87571	-2.27;-2.27	6.17	6.17	0.99709	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.94268	0.8159	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.93794	0.7095	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	380;380	P58397-3;P58397	.;ATS12_HUMAN	K	380	ENSP00000422554:E380K;ENSP00000344847:E380K	ENSP00000344847:E380K	E	-	1	0	ADAMTS12	33694098	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GAA	ADAMTS12	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000151388		0.507	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS12	HGNC	protein_coding	OTTHUMT00000367164.2	60	0.00	0	C	NM_030955		33658341	33658341	-1	no_errors	ENST00000504830	ensembl	human	known	69_37n	missense	50	25.37	17	SNP	1.000	T
ADAMTS12	81792	genome.wustl.edu	37	5	33662113	33662113	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:33662113C>G	ENST00000504830.1	-	6	1283	c.948G>C	c.(946-948)aaG>aaC	p.K316N	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.K316N|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	316	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				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						TAGACAGTGTCTTTTCTGCAT	0.483										HNSCC(64;0.19)																												dbGAP											0													163.0	136.0	145.0					5																	33662113		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.948G>C	5.37:g.33662113C>G	ENSP00000422554:p.Lys316Asn	Somatic		WXS	Illumina GAIIx	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.K316N	ENST00000504830.1	37	c.948	CCDS34140.1	5	.	.	.	.	.	.	.	.	.	.	C	4.565	0.104870	0.08731	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.63580	-0.05;-0.05	5.83	4.97	0.65823	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.098410	0.64402	D	0.000001	T	0.55273	0.1910	N	0.05554	-0.025	0.80722	D	1	D;B	0.71674	0.998;0.083	D;B	0.66351	0.943;0.086	T	0.52525	-0.8564	10	0.13853	T	0.58	.	10.9763	0.47467	0.0:0.8585:0.0:0.1415	.	316;316	P58397-3;P58397	.;ATS12_HUMAN	N	316	ENSP00000422554:K316N;ENSP00000344847:K316N	ENSP00000344847:K316N	K	-	3	2	ADAMTS12	33697870	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	0.951000	0.29135	1.492000	0.48499	0.585000	0.79938	AAG	ADAMTS12	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000151388		0.483	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS12	HGNC	protein_coding	OTTHUMT00000367164.2	83	0.00	0	C	NM_030955		33662113	33662113	-1	no_errors	ENST00000504830	ensembl	human	known	69_37n	missense	81	23.58	25	SNP	1.000	G
ADAMTS14	140766	genome.wustl.edu	37	10	72496438	72496438	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:72496438C>G	ENST00000373207.1	+	10	1488	c.1488C>G	c.(1486-1488)ttC>ttG	p.F496L	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.F499L	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	496	Disintegrin.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CCATGCAGTTCAGGACCTTTG	0.562																																						dbGAP											0													83.0	72.0	76.0					10																	72496438		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.1488C>G	10.37:g.72496438C>G	ENSP00000362303:p.Phe496Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.F499L	ENST00000373207.1	37	c.1497	CCDS7306.1	10	.	.	.	.	.	.	.	.	.	.	C	13.17	2.156852	0.38119	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	T;T	0.66280	-0.2;-0.2	3.69	1.82	0.25136	.	0.000000	0.85682	D	0.000000	T	0.43765	0.1262	L	0.28014	0.82	0.36322	D	0.858335	B;B;B	0.14438	0.01;0.003;0.003	B;B;B	0.19391	0.025;0.009;0.009	T	0.34576	-0.9823	10	0.16420	T	0.52	.	9.7682	0.40574	0.0:0.8224:0.0:0.1776	.	429;496;499	Q8WXS8-2;Q8WXS8;Q5T4G1	.;ATS14_HUMAN;.	L	499;496	ENSP00000362304:F499L;ENSP00000362303:F496L	ENSP00000362303:F496L	F	+	3	2	ADAMTS14	72166444	1.000000	0.71417	0.990000	0.47175	0.835000	0.47333	2.365000	0.44196	0.537000	0.28751	0.467000	0.42956	TTC	ADAMTS14	-	smart_ADAM_Cys-rich	ENSG00000138316		0.562	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADAMTS14	HGNC	protein_coding	OTTHUMT00000048522.1	52	0.00	0	C	NM_080722		72496438	72496438	+1	no_errors	ENST00000373208	ensembl	human	known	69_37n	missense	35	29.41	15	SNP	1.000	G
ADAMTS17	170691	genome.wustl.edu	37	15	100657086	100657086	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:100657086C>A	ENST00000268070.4	-	13	1959	c.1854G>T	c.(1852-1854)aaG>aaT	p.K618N		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	618	Cys-rich.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		GGCCTTTCTTCTTGGGGCTCA	0.592																																						dbGAP											0													77.0	61.0	66.0					15																	100657086		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17109	protein-coding gene	gene with protein product		607511	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"""			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.1854G>T	15.37:g.100657086C>A	ENSP00000268070:p.Lys618Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2I7G4|Q6ZN75	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.K618N	ENST00000268070.4	37	c.1854	CCDS10383.1	15	.	.	.	.	.	.	.	.	.	.	C	16.12	3.032811	0.54790	.	.	ENSG00000140470	ENST00000268070;ENST00000378898	T	0.59772	0.24	5.18	5.18	0.71444	.	0.062560	0.64402	D	0.000013	T	0.40247	0.1109	N	0.11284	0.12	0.53005	D	0.999966	B;B	0.32245	0.21;0.361	B;B	0.32583	0.148;0.069	T	0.29027	-1.0025	10	0.15952	T	0.53	.	18.7048	0.91633	0.0:1.0:0.0:0.0	.	375;618	Q8TE56-2;Q8TE56	.;ATS17_HUMAN	N	618;375	ENSP00000268070:K618N	ENSP00000268070:K618N	K	-	3	2	ADAMTS17	98474609	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.839000	0.48207	2.419000	0.82065	0.655000	0.94253	AAG	ADAMTS17	-	NULL	ENSG00000140470		0.592	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS17	HGNC	protein_coding	OTTHUMT00000313595.1	52	0.00	0	C	NM_139057		100657086	100657086	-1	no_errors	ENST00000268070	ensembl	human	known	69_37n	missense	23	39.47	15	SNP	1.000	A
ADAMTS19	171019	genome.wustl.edu	37	5	129001211	129001211	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:129001211G>A	ENST00000274487.4	+	16	2572	c.2427G>A	c.(2425-2427)gtG>gtA	p.V809V	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	809	Spacer.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AAGTGCTGGTGATACCTGCTG	0.388																																						dbGAP											0													112.0	103.0	106.0					5																	129001211		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.2427G>A	5.37:g.129001211G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.V809	ENST00000274487.4	37	c.2427	CCDS4146.1	5																																																																																			ADAMTS19	-	pfam_ADAM_spacer1	ENSG00000145808		0.388	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS19	HGNC	protein_coding	OTTHUMT00000250979.2	130	0.00	0	G	NM_133638		129001211	129001211	+1	no_errors	ENST00000274487	ensembl	human	known	69_37n	silent	100	15.25	18	SNP	1.000	A
ADAMTS20	80070	genome.wustl.edu	37	12	43822244	43822244	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:43822244C>T	ENST00000389420.3	-	26	3744	c.3745G>A	c.(3745-3747)Gaa>Aaa	p.E1249K	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.E1249K|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.E367K	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1249	TSP type-1 8. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GGGCGAACTTCAGGATCACAG	0.468																																						dbGAP											0													69.0	70.0	69.0					12																	43822244		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.3745G>A	12.37:g.43822244C>T	ENSP00000374071:p.Glu1249Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NNC9|J3QT00	Missense_Mutation	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B	p.E1249K	ENST00000389420.3	37	c.3745	CCDS31778.2	12	.	.	.	.	.	.	.	.	.	.	C	15.60	2.880235	0.51801	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	T;T;T;T	0.53423	0.62;0.62;0.62;0.62	5.35	4.45	0.53987	.	0.303220	0.22852	N	0.054848	T	0.51244	0.1663	L	0.35288	1.05	0.41078	D	0.985508	P;D	0.63046	0.866;0.992	P;P	0.59546	0.593;0.859	T	0.41822	-0.9487	10	0.19590	T	0.45	.	14.4028	0.67060	0.0:0.9269:0.0:0.0731	.	1249;367	P59510;E9PBD5	ATS20_HUMAN;.	K	1249;379;367;1249;1249	ENSP00000374071:E1249K;ENSP00000447427:E379K;ENSP00000378911:E367K;ENSP00000448341:E1249K	ENSP00000374068:E1249K	E	-	1	0	ADAMTS20	42108511	0.792000	0.28813	0.341000	0.25589	0.167000	0.22549	2.389000	0.44407	1.576000	0.49790	0.585000	0.79938	GAA	ADAMTS20	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000173157		0.468	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS20	HGNC	protein_coding	OTTHUMT00000403643.1	53	0.00	0	C	NM_025003		43822244	43822244	-1	no_errors	ENST00000389420	ensembl	human	known	69_37n	missense	51	21.54	14	SNP	0.986	T
ADAMTS20	80070	genome.wustl.edu	37	12	43846146	43846146	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:43846146C>T	ENST00000389420.3	-	14	2009	c.2010G>A	c.(2008-2010)aaG>aaA	p.K670K	ADAMTS20_ENST00000553158.1_Silent_p.K670K	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	670	Cys-rich.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CAACCATATCCTTCAATAGGT	0.343																																						dbGAP											0													89.0	85.0	87.0					12																	43846146		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.2010G>A	12.37:g.43846146C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NNC9|J3QT00	Silent	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B	p.K670	ENST00000389420.3	37	c.2010	CCDS31778.2	12																																																																																			ADAMTS20	-	NULL	ENSG00000173157		0.343	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS20	HGNC	protein_coding	OTTHUMT00000403643.1	97	0.00	0	C	NM_025003		43846146	43846146	-1	no_errors	ENST00000389420	ensembl	human	known	69_37n	silent	57	21.62	16	SNP	1.000	T
ADAMTS3	9508	genome.wustl.edu	37	4	73414401	73414401	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:73414401G>C	ENST00000286657.4	-	3	334	c.298C>G	c.(298-300)Caa>Gaa	p.Q100E	ADAMTS3_ENST00000505193.1_5'UTR	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	100					collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCTACTAGTTGAGTGTTGGGC	0.483																																					NSCLC(168;1941 2048 2918 13048 43078)	dbGAP											0													127.0	123.0	125.0					4																	73414401		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.298C>G	4.37:g.73414401G>C	ENSP00000286657:p.Gln100Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3U9|Q9BXZ8	Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.Q100E	ENST00000286657.4	37	c.298	CCDS3553.1	4	.	.	.	.	.	.	.	.	.	.	G	13.22	2.171201	0.38315	.	.	ENSG00000156140	ENST00000286657	T	0.05649	3.41	5.74	5.74	0.90152	Peptidase M12B, propeptide (1);	0.189903	0.31989	N	0.006753	T	0.05044	0.0135	N	0.16743	0.435	0.25170	N	0.990287	B	0.17852	0.024	B	0.24006	0.05	T	0.42447	-0.9451	10	0.15499	T	0.54	.	14.1561	0.65419	0.0:0.0:0.8503:0.1497	.	100	O15072	ATS3_HUMAN	E	100	ENSP00000286657:Q100E	ENSP00000286657:Q100E	Q	-	1	0	ADAMTS3	73633265	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	2.644000	0.46613	2.861000	0.98227	0.643000	0.83706	CAA	ADAMTS3	-	pfam_Peptidase_M12B_N	ENSG00000156140		0.483	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS3	HGNC	protein_coding	OTTHUMT00000252164.2	124	0.00	0	G			73414401	73414401	-1	no_errors	ENST00000286657	ensembl	human	known	69_37n	missense	88	22.81	26	SNP	0.999	C
ADAMTS4	9507	genome.wustl.edu	37	1	161166022	161166022	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:161166022C>T	ENST00000367996.5	-	3	1457	c.1029G>A	c.(1027-1029)cgG>cgA	p.R343R	ADAMTS4_ENST00000367995.3_3'UTR|ADAMTS4_ENST00000478394.1_5'Flank	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	343	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		Tinzaparin(DB06822)	TGGCACAGCTCCGAGCCGGGT	0.557																																						dbGAP											0													96.0	91.0	92.0					1																	161166022		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	220	protein-coding gene	gene with protein product		603876	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"""			10094461	Standard	NM_005099		Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.1029G>A	1.37:g.161166022C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Silent	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.R343	ENST00000367996.5	37	c.1029	CCDS1223.1	1																																																																																			ADAMTS4	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000158859		0.557	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS4	HGNC	protein_coding	OTTHUMT00000083066.2	45	0.00	0	C	NM_005099		161166022	161166022	-1	no_errors	ENST00000367996	ensembl	human	known	69_37n	silent	59	13.24	9	SNP	0.978	T
ADAMTS8	11095	genome.wustl.edu	37	11	130281431	130281431	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:130281431C>G	ENST00000257359.6	-	6	2337	c.1631G>C	c.(1630-1632)gGa>gCa	p.G544A		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	544	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CTGTACTCCTCCTCCACAGGT	0.577																																						dbGAP											0													76.0	81.0	79.0					11																	130281431		2019	4163	6182	-	-	-	SO:0001583	missense	0			AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	224	protein-coding gene	gene with protein product		605175	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"""			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.1631G>C	11.37:g.130281431C>G	ENSP00000257359:p.Gly544Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NZS0	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS8,prints_Peptidase_M12B_ADAM-TS	p.G544A	ENST00000257359.6	37	c.1631	CCDS41732.1	11	.	.	.	.	.	.	.	.	.	.	C	32	5.176558	0.94846	.	.	ENSG00000134917	ENST00000257359;ENST00000414575	T	0.52983	0.64	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.73513	0.3596	M	0.86028	2.79	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.97110	0.988;1.0	T	0.73228	-0.4049	10	0.41790	T	0.15	.	19.924	0.97098	0.0:1.0:0.0:0.0	.	544;25	Q9UP79;B3KVX9	ATS8_HUMAN;.	A	544;573	ENSP00000257359:G544A	ENSP00000257359:G544A	G	-	2	0	ADAMTS8	129786641	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.445000	0.80570	2.790000	0.95986	0.591000	0.81541	GGA	ADAMTS8	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS	ENSG00000134917		0.577	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS8	HGNC	protein_coding	OTTHUMT00000385636.1	71	0.00	0	C	NM_007037		130281431	130281431	-1	no_errors	ENST00000257359	ensembl	human	known	69_37n	missense	52	22.39	15	SNP	1.000	G
ADAMTS9	56999	genome.wustl.edu	37	3	64592688	64592688	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:64592688G>A	ENST00000498707.1	-	23	3764	c.3422C>T	c.(3421-3423)tCa>tTa	p.S1141L	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.S1113L	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1141	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		ATCTACCACTGACATATAAGT	0.428																																						dbGAP											0													233.0	195.0	208.0					3																	64592688		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.3422C>T	3.37:g.64592688G>A	ENSP00000418735:p.Ser1141Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Nonsense_Mutation	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt	p.Q197*	ENST00000498707.1	37	c.589	CCDS2903.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.1|21.1	4.096747|4.096747	0.76870|0.76870	.|.	.|.	ENSG00000163638|ENSG00000163638	ENST00000481060|ENST00000295903;ENST00000498707	.|T;T	.|0.60672	.|0.17;0.18	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	.|0.249809	.|0.34133	.|N	.|0.004222	.|T	.|0.49218	.|0.1544	N|N	0.13299|0.13299	0.325|0.325	0.80722|0.80722	D|D	1|1	.|B;P;B	.|0.36789	.|0.152;0.57;0.033	.|B;B;B	.|0.40864	.|0.232;0.342;0.044	.|T	.|0.49978	.|-0.8881	.|10	.|0.45353	.|T	.|0.12	.|.	20.2699|20.2699	0.98469|0.98469	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1113;1141;1141	.|B7ZVX9;Q9P2N4-1;Q9P2N4	.|.;.;ATS9_HUMAN	X|L	197|1113;1141	.|ENSP00000295903:S1113L;ENSP00000418735:S1141L	.|ENSP00000295903:S1113L	Q|S	-|-	1|2	0|0	ADAMTS9|ADAMTS9	64567728|64567728	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.679000|0.679000	0.39708|0.39708	7.487000|7.487000	0.81328|0.81328	2.854000|2.854000	0.98071|0.98071	0.655000|0.655000	0.94253|0.94253	CAG|TCA	ADAMTS9	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000163638		0.428	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS9	HGNC	protein_coding	OTTHUMT00000351891.1	120	0.00	0	G			64592688	64592688	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000481060	ensembl	human	known	69_37n	nonsense	123	18.54	28	SNP	0.994	A
ADAMTS9	56999	genome.wustl.edu	37	3	64640042	64640042	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:64640042C>A	ENST00000498707.1	-	8	1645	c.1303G>T	c.(1303-1305)Gag>Tag	p.E435*	ADAMTS9_ENST00000459780.1_Nonsense_Mutation_p.E435*|ADAMTS9_ENST00000295903.4_Nonsense_Mutation_p.E407*	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	435	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TGGCCCAGCTCATGGGCGATC	0.413																																						dbGAP											0													163.0	173.0	170.0					3																	64640042		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.1303G>T	3.37:g.64640042C>A	ENSP00000418735:p.Glu435*	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Nonsense_Mutation	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B	p.E435*	ENST00000498707.1	37	c.1303	CCDS2903.1	3	.	.	.	.	.	.	.	.	.	.	C	36	5.602258	0.96614	.	.	ENSG00000163638	ENST00000295903;ENST00000498707;ENST00000459780	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.7395	0.96220	0.0:1.0:0.0:0.0	.	.	.	.	X	407;435;435	.	ENSP00000295903:E407X	E	-	1	0	ADAMTS9	64615082	1.000000	0.71417	1.000000	0.80357	0.388000	0.30384	7.818000	0.86416	2.669000	0.90835	0.655000	0.94253	GAG	ADAMTS9	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000163638		0.413	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS9	HGNC	protein_coding	OTTHUMT00000351891.1	110	0.00	0	C			64640042	64640042	-1	no_errors	ENST00000498707	ensembl	human	known	69_37n	nonsense	63	40.00	42	SNP	1.000	A
ADAMTSL3	57188	genome.wustl.edu	37	15	84373150	84373150	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:84373150G>T	ENST00000286744.5	+	3	303	c.79G>T	c.(79-81)Gag>Tag	p.E27*	ADAMTSL3_ENST00000567476.1_Nonsense_Mutation_p.E27*	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	27						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GACCACAGCTGAGAAATCTCC	0.478																																						dbGAP											0													180.0	184.0	182.0					15																	84373150		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.79G>T	15.37:g.84373150G>T	ENSP00000286744:p.Glu27*	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A566|A1A567|Q9ULI7	Nonsense_Mutation	SNP	pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like,prints_Peptidase_M12B_ADAM-TS	p.E27*	ENST00000286744.5	37	c.79	CCDS10326.1	15	.	.	.	.	.	.	.	.	.	.	G	36	5.923870	0.97110	.	.	ENSG00000156218	ENST00000286744	.	.	.	5.71	5.71	0.89125	.	0.126462	0.34002	N	0.004355	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	19.8677	0.96824	0.0:0.0:1.0:0.0	.	.	.	.	X	27	.	ENSP00000286744:E27X	E	+	1	0	ADAMTSL3	82164154	1.000000	0.71417	0.937000	0.37676	0.364000	0.29643	5.382000	0.66213	2.709000	0.92574	0.655000	0.94253	GAG	ADAMTSL3	-	NULL	ENSG00000156218		0.478	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTSL3	HGNC	protein_coding	OTTHUMT00000304007.2	108	0.00	0	G	NM_207517		84373150	84373150	+1	no_errors	ENST00000286744	ensembl	human	known	69_37n	nonsense	56	27.27	21	SNP	0.990	T
ADAMTSL4	54507	genome.wustl.edu	37	1	150528805	150528805	+	Silent	SNP	C	C	T	rs201199312		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:150528805C>T	ENST00000369038.2	+	7	1740	c.1539C>T	c.(1537-1539)ctC>ctT	p.L513L	ADAMTSL4_ENST00000271643.4_Silent_p.L513L|ADAMTSL4_ENST00000369041.5_Silent_p.L513L|ADAMTSL4_ENST00000369039.5_Silent_p.L536L|RP11-54A4.2_ENST00000442435.2_RNA			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	513					apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CCTTGCGGCTCCAGATTGCCC	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		15513	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													38.0	44.0	42.0					1																	150528805		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"""thrombospondin repeat containing 1"""	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.1539C>T	1.37:g.150528805C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Silent	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt	p.L536	ENST00000369038.2	37	c.1608	CCDS955.1	1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	6.871	0.530151	0.13127	.	.	ENSG00000143382	ENST00000407995	.	.	.	4.72	-3.47	0.04753	.	.	.	.	.	T	0.41026	0.1141	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54483	-0.8287	5	0.87932	D	0	.	3.7772	0.08665	0.2329:0.3551:0.3276:0.0844	.	.	.	.	F	52	.	ENSP00000383980:S52F	S	+	2	0	ADAMTSL4	148795429	0.715000	0.27946	0.014000	0.15608	0.780000	0.44128	-0.055000	0.11807	-0.359000	0.08150	0.462000	0.41574	TCC	ADAMTSL4	-	pfam_ADAM_spacer1	ENSG00000143382		0.607	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ADAMTSL4	HGNC	protein_coding	OTTHUMT00000084395.4	36	0.00	0	C	NM_019032		150528805	150528805	+1	no_errors	ENST00000369039	ensembl	human	known	69_37n	silent	21	46.15	18	SNP	0.785	T
ADAR	103	genome.wustl.edu	37	1	154561914	154561914	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:154561914G>C	ENST00000368474.4	-	9	2892	c.2693C>G	c.(2692-2694)tCt>tGt	p.S898C	ADAR_ENST00000292205.5_Missense_Mutation_p.S941C|ADAR_ENST00000368471.3_Missense_Mutation_p.S603C	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	898	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TAGGCTGAGAGAATCTCCTTT	0.468																																						dbGAP											0													99.0	88.0	92.0					1																	154561914		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"""interferon-induced protein 4"""	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.2693C>G	1.37:g.154561914G>C	ENSP00000357459:p.Ser898Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	pfam_A_deamin,pfam_dsRNA_A_deaminase,pfam_Ds-RNA-bd,smart_dsRNA_A_deaminase,smart_Ds-RNA-bd,smart_A_deamin,pfscan_Ds-RNA-bd,pfscan_dsRNA_A_deaminase,pfscan_A_deamin	p.S941C	ENST00000368474.4	37	c.2822	CCDS1071.1	1	.	.	.	.	.	.	.	.	.	.	G	19.72	3.880976	0.72294	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000368471;ENST00000529168	D;D;D;D	0.94046	-3.34;-3.34;-3.34;-3.34	5.41	4.43	0.53597	Adenosine deaminase/editase (3);	0.111624	0.64402	D	0.000012	D	0.91503	0.7317	L	0.27053	0.805	0.39376	D	0.966165	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.68943	0.929;0.961;0.956	D	0.90869	0.4744	10	0.45353	T	0.12	-17.4279	11.3852	0.49780	0.0:0.0:0.6558:0.3442	.	853;872;898	P55265-3;P55265-2;P55265	.;.;DSRAD_HUMAN	C	941;898;603;867	ENSP00000292205:S941C;ENSP00000357459:S898C;ENSP00000357456:S603C;ENSP00000431794:S867C	ENSP00000292205:S941C	S	-	2	0	ADAR	152828538	1.000000	0.71417	0.989000	0.46669	0.960000	0.62799	6.423000	0.73361	2.826000	0.97356	0.655000	0.94253	TCT	ADAR	-	pfam_A_deamin,smart_A_deamin,pfscan_A_deamin	ENSG00000160710		0.468	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADAR	HGNC	protein_coding	OTTHUMT00000090691.2	96	0.00	0	G	NM_001111		154561914	154561914	-1	no_errors	ENST00000292205	ensembl	human	known	69_37n	missense	107	17.69	23	SNP	1.000	C
ADAT1	23536	genome.wustl.edu	37	16	75634191	75634191	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:75634191C>T	ENST00000307921.3	-	11	1577	c.1432G>A	c.(1432-1434)Gaa>Aaa	p.E478K	RP11-77K12.8_ENST00000564489.1_RNA|ADAT1_ENST00000568478.1_5'UTR	NM_012091.3	NP_036223.2	Q9BUB4	ADAT1_HUMAN	adenosine deaminase, tRNA-specific 1	478	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|RNA binding (GO:0003723)|tRNA-specific adenosine deaminase activity (GO:0008251)			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)	19						CTCCAGGCTTCCTGGTAAGAG	0.507																																						dbGAP											0													115.0	107.0	110.0					16																	75634191		2198	4300	6498	-	-	-	SO:0001583	missense	0			AF125188	CCDS10922.1	16q23	2008-02-05			ENSG00000065457	ENSG00000065457			228	protein-coding gene	gene with protein product		604230				10430867	Standard	NM_012091		Approved		uc002feo.2	Q9BUB4	OTTHUMG00000137611	ENST00000307921.3:c.1432G>A	16.37:g.75634191C>T	ENSP00000310015:p.Glu478Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NVB7|Q9UNG3	Missense_Mutation	SNP	pfam_A_deamin,smart_A_deamin,pfscan_A_deamin	p.E478K	ENST00000307921.3	37	c.1432	CCDS10922.1	16	.	.	.	.	.	.	.	.	.	.	C	25.0	4.595307	0.86953	.	.	ENSG00000065457	ENST00000307921;ENST00000542252	D	0.93811	-3.29	5.69	4.73	0.59995	Adenosine deaminase/editase (3);	0.226252	0.45126	D	0.000397	D	0.94716	0.8295	M	0.67517	2.055	0.42181	D	0.991682	D	0.67145	0.996	D	0.63283	0.913	D	0.92878	0.6320	10	0.14656	T	0.56	-1.8222	12.7653	0.57388	0.0:0.8231:0.1769:0.0	.	478	Q9BUB4	ADAT1_HUMAN	K	478;449	ENSP00000310015:E478K	ENSP00000310015:E478K	E	-	1	0	ADAT1	74191692	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.651000	0.37302	1.374000	0.46228	0.655000	0.94253	GAA	ADAT1	-	pfam_A_deamin,smart_A_deamin,pfscan_A_deamin	ENSG00000065457		0.507	ADAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAT1	HGNC	protein_coding	OTTHUMT00000269027.1	69	0.00	0	C	NM_012091		75634191	75634191	-1	no_errors	ENST00000307921	ensembl	human	known	69_37n	missense	47	43.37	36	SNP	1.000	T
ADCK2	90956	genome.wustl.edu	37	7	140373731	140373731	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:140373731G>C	ENST00000072869.4	+	1	779	c.601G>C	c.(601-603)Gag>Cag	p.E201Q	ADCK2_ENST00000476491.1_Missense_Mutation_p.E201Q	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	201	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					CCTCTCTTTTGAGAACCGGGA	0.597																																						dbGAP											0													59.0	64.0	62.0					7																	140373731		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF131745	CCDS5861.1	7q34	2003-07-21			ENSG00000133597	ENSG00000133597			19039	protein-coding gene	gene with protein product							Standard	NM_052853		Approved	MGC20727	uc003vvy.1	Q7Z695	OTTHUMG00000157409	ENST00000072869.4:c.601G>C	7.37:g.140373731G>C	ENSP00000072869:p.Glu201Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96CN6|Q9Y6T5	Missense_Mutation	SNP	pfam_UbiB_dom,superfamily_Kinase-like_dom	p.E201Q	ENST00000072869.4	37	c.601	CCDS5861.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.35|17.35	3.367063|3.367063	0.61513|0.61513	.|.	.|.	ENSG00000133597|ENSG00000133597	ENST00000072869;ENST00000476491|ENST00000483369	T;T|.	0.12569|.	3.03;2.67|.	4.63|4.63	4.63|4.63	0.57726|0.57726	.|.	0.296062|.	0.32081|.	N|.	0.006614|.	T|.	0.61874|.	0.2382|.	L|L	0.51422|0.51422	1.61|1.61	0.36705|0.36705	D|D	0.880341|0.880341	D;P|.	0.56035|.	0.974;0.954|.	P;P|.	0.50754|.	0.649;0.548|.	T|.	0.66468|.	-0.5916|.	10|.	0.30854|.	T|.	0.27|.	-16.6488|-16.6488	13.3971|13.3971	0.60861|0.60861	0.0:0.2869:0.713:0.0|0.0:0.2869:0.713:0.0	.|.	201;201|.	C9JE15;Q7Z695|.	.;ADCK2_HUMAN|.	Q|S	201|38	ENSP00000072869:E201Q;ENSP00000420512:E201Q|.	ENSP00000072869:E201Q|.	E|X	+|+	1|2	0|2	ADCK2|ADCK2	140020200|140020200	0.990000|0.990000	0.36364|0.36364	0.433000|0.433000	0.26760|0.26760	0.723000|0.723000	0.41478|0.41478	2.634000|2.634000	0.46528|0.46528	2.136000|2.136000	0.66102|0.66102	0.561000|0.561000	0.74099|0.74099	GAG|TGA	ADCK2	-	NULL	ENSG00000133597		0.597	ADCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCK2	HGNC	protein_coding	OTTHUMT00000348734.1	29	0.00	0	G	NM_052853		140373731	140373731	+1	no_errors	ENST00000072869	ensembl	human	known	69_37n	missense	24	27.27	9	SNP	1.000	C
ADCY1	107	genome.wustl.edu	37	7	45701769	45701769	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:45701769G>A	ENST00000297323.7	+	8	1583	c.1561G>A	c.(1561-1563)Gag>Aag	p.E521K	ADCY1_ENST00000432715.1_Missense_Mutation_p.E296K	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	521					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)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|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)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GTTCAAGGCCGAGATCCCCTT	0.542																																						dbGAP											0													79.0	65.0	70.0					7																	45701769		2203	4300	6503	-	-	-	SO:0001583	missense	0			L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.1561G>A	7.37:g.45701769G>A	ENSP00000297323:p.Glu521Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D2L8|Q75MI1	Missense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.E521K	ENST00000297323.7	37	c.1561	CCDS34631.1	7	.	.	.	.	.	.	.	.	.	.	G	27.1	4.804679	0.90623	.	.	ENSG00000164742	ENST00000432715;ENST00000297323;ENST00000545300	D;T	0.82711	-1.64;-1.31	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.75737	0.3890	L	0.59436	1.845	0.58432	D	0.999995	P;P	0.37122	0.57;0.583	B;B	0.24155	0.031;0.051	T	0.74722	-0.3569	10	0.15499	T	0.54	.	15.7517	0.77992	0.0:0.0:1.0:0.0	.	521;296	Q08828;C9J1J0	ADCY1_HUMAN;.	K	296;521;521	ENSP00000392721:E296K;ENSP00000297323:E521K	ENSP00000297323:E521K	E	+	1	0	ADCY1	45668294	1.000000	0.71417	0.946000	0.38457	0.907000	0.53573	9.198000	0.94994	2.331000	0.79229	0.591000	0.81541	GAG	ADCY1	-	NULL	ENSG00000164742		0.542	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY1	HGNC	protein_coding	OTTHUMT00000340055.2	62	0.00	0	G	NM_021116		45701769	45701769	+1	no_errors	ENST00000297323	ensembl	human	known	69_37n	missense	56	23.29	17	SNP	0.997	A
ADCK2	90956	genome.wustl.edu	37	7	140386848	140386848	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:140386848G>A	ENST00000072869.4	+	5	1542	c.1364G>A	c.(1363-1365)gGt>gAt	p.G455D	ADCK2_ENST00000476491.1_Missense_Mutation_p.G455D	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	455	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					CTGGTTCAGGGTGCCAACGGC	0.572																																						dbGAP											0													110.0	95.0	100.0					7																	140386848		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF131745	CCDS5861.1	7q34	2003-07-21			ENSG00000133597	ENSG00000133597			19039	protein-coding gene	gene with protein product							Standard	NM_052853		Approved	MGC20727	uc003vvy.1	Q7Z695	OTTHUMG00000157409	ENST00000072869.4:c.1364G>A	7.37:g.140386848G>A	ENSP00000072869:p.Gly455Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96CN6|Q9Y6T5	Missense_Mutation	SNP	pfam_UbiB_dom,superfamily_Kinase-like_dom	p.G455D	ENST00000072869.4	37	c.1364	CCDS5861.1	7	.	.	.	.	.	.	.	.	.	.	G	11.34	1.609737	0.28623	.	.	ENSG00000133597	ENST00000072869;ENST00000476491;ENST00000473512	T;T;T	0.29142	1.58;1.58;1.58	5.12	5.12	0.69794	.	0.219908	0.38837	N	0.001550	T	0.26484	0.0647	L	0.32530	0.975	0.80722	D	1	B;B	0.32101	0.344;0.356	B;B	0.30179	0.112;0.086	T	0.03157	-1.1066	10	0.32370	T	0.25	-43.5095	18.7359	0.91755	0.0:0.0:1.0:0.0	.	455;455	C9JE15;Q7Z695	.;ADCK2_HUMAN	D	455;455;95	ENSP00000072869:G455D;ENSP00000420512:G455D;ENSP00000420288:G95D	ENSP00000072869:G455D	G	+	2	0	ADCK2	140033317	1.000000	0.71417	0.922000	0.36590	0.037000	0.13140	3.522000	0.53480	2.667000	0.90743	0.491000	0.48974	GGT	ADCK2	-	superfamily_Kinase-like_dom	ENSG00000133597		0.572	ADCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCK2	HGNC	protein_coding	OTTHUMT00000348734.1	80	0.00	0	G	NM_052853		140386848	140386848	+1	no_errors	ENST00000072869	ensembl	human	known	69_37n	missense	64	23.81	20	SNP	0.995	A
ADCY10	55811	genome.wustl.edu	37	1	167815400	167815400	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:167815400C>G	ENST00000367851.4	-	20	2723	c.2539G>C	c.(2539-2541)Gag>Cag	p.E847Q	ADCY10_ENST00000367848.1_Missense_Mutation_p.E755Q|ADCY10_ENST00000545172.1_Missense_Mutation_p.E694Q	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	847					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						GGGAGAATCTCAAACAACAAC	0.453																																						dbGAP											0													147.0	145.0	146.0					1																	167815400		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.2539G>C	1.37:g.167815400C>G	ENSP00000356825:p.Glu847Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase	p.E847Q	ENST00000367851.4	37	c.2539	CCDS1265.1	1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.944339	0.53079	.	.	ENSG00000143199	ENST00000545172;ENST00000367851;ENST00000367848	T;T;T	0.32272	1.46;1.46;1.46	5.69	5.69	0.88448	.	0.192647	0.36893	N	0.002351	T	0.31544	0.0800	M	0.68317	2.08	0.22552	N	0.999	D;P;P	0.54964	0.969;0.946;0.911	P;P;B	0.54590	0.756;0.624;0.42	T	0.09122	-1.0689	9	0.11794	T	0.64	-27.1678	15.3821	0.74664	0.0:1.0:0.0:0.0	.	694;755;847	F5GWS5;Q96PN6-2;Q96PN6	.;.;ADCYA_HUMAN	Q	694;847;755	ENSP00000441992:E694Q;ENSP00000356825:E847Q;ENSP00000356822:E755Q	ENSP00000356822:E755Q	E	-	1	0	ADCY10	166082024	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.839000	0.39220	2.703000	0.92315	0.555000	0.69702	GAG	ADCY10	-	pirsf_Adenylate_cylcase_typ10	ENSG00000143199		0.453	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY10	HGNC	protein_coding	OTTHUMT00000083663.1	55	0.00	0	C	NM_018417		167815400	167815400	-1	no_errors	ENST00000367851	ensembl	human	known	69_37n	missense	75	15.73	14	SNP	1.000	G
ADCY4	196883	genome.wustl.edu	37	14	24795528	24795528	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:24795528G>A	ENST00000310677.4	-	12	1658	c.1545C>T	c.(1543-1545)ttC>ttT	p.F515F	ADCY4_ENST00000418030.2_Silent_p.F515F|ADCY4_ENST00000396747.3_Silent_p.F208F|ADCY4_ENST00000554068.2_Silent_p.F515F	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	515					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)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|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)|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)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		ACTGGGTGCTGAAGGAAGCCA	0.617																																						dbGAP											0													85.0	73.0	77.0					14																	24795528		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.1545C>T	14.37:g.24795528G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Missense_Mutation	SNP	pfam_Adenylate_cyclase-like	p.S88L	ENST00000310677.4	37	c.263	CCDS9627.1	14	.	.	.	.	.	.	.	.	.	.	G	10.12	1.262189	0.23051	.	.	ENSG00000129467	ENST00000556932	.	.	.	4.68	2.75	0.32379	.	.	.	.	.	T	0.53222	0.1783	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48115	-0.9063	4	.	.	.	.	5.7387	0.18081	0.1095:0.2156:0.6749:0.0	.	.	.	.	L	88	.	.	S	-	2	0	ADCY4	23865368	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.763000	0.38461	1.209000	0.43321	0.591000	0.81541	TCA	ADCY4	-	pfam_Adenylate_cyclase-like	ENSG00000129467		0.617	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY4	HGNC	protein_coding	OTTHUMT00000073200.4	41	0.00	0	G			24795528	24795528	-1	no_start_codon:pseudogene:no_stop_codon	ENST00000556932	ensembl	human	putative	69_37n	missense	43	24.56	14	SNP	1.000	A
ADCY9	115	genome.wustl.edu	37	16	4015828	4015828	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:4015828C>T	ENST00000294016.3	-	11	4548	c.4010G>A	c.(4009-4011)gGa>gAa	p.G1337E		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	1337					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)|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)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TTCTTCTATTCCTGTTTCGTC	0.552																																						dbGAP											0													194.0	180.0	185.0					16																	4015828		2197	4300	6497	-	-	-	SO:0001583	missense	0			AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.4010G>A	16.37:g.4015828C>T	ENSP00000294016:p.Gly1337Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.G1337E	ENST00000294016.3	37	c.4010	CCDS32382.1	16	.	.	.	.	.	.	.	.	.	.	C	4.288	0.052721	0.08291	.	.	ENSG00000162104	ENST00000294016	D	0.82081	-1.57	5.53	2.41	0.29592	.	0.067264	0.64402	D	0.000017	T	0.70666	0.3250	L	0.29908	0.895	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.58329	-0.7655	10	0.40728	T	0.16	.	8.0913	0.30803	0.0:0.62:0.2455:0.1345	.	1337	O60503	ADCY9_HUMAN	E	1337	ENSP00000294016:G1337E	ENSP00000294016:G1337E	G	-	2	0	ADCY9	3955829	0.049000	0.20398	0.005000	0.12908	0.075000	0.17131	1.332000	0.33805	0.353000	0.24079	0.655000	0.94253	GGA	ADCY9	-	NULL	ENSG00000162104		0.552	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY9	HGNC	protein_coding	OTTHUMT00000438076.1	160	0.00	0	C			4015828	4015828	-1	no_errors	ENST00000294016	ensembl	human	known	69_37n	missense	124	20.00	31	SNP	0.044	T
ADCY9	115	genome.wustl.edu	37	16	4016694	4016694	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:4016694C>T	ENST00000294016.3	-	11	3682	c.3144G>A	c.(3142-3144)caG>caA	p.Q1048Q		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	1048					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)|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)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TGGAGTAGGTCTGGGACACCT	0.577																																						dbGAP											0													177.0	150.0	159.0					16																	4016694		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.3144G>A	16.37:g.4016694C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Silent	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.Q1048	ENST00000294016.3	37	c.3144	CCDS32382.1	16																																																																																			ADCY9	-	smart_A/G_cyclase	ENSG00000162104		0.577	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY9	HGNC	protein_coding	OTTHUMT00000438076.1	58	0.00	0	C			4016694	4016694	-1	no_errors	ENST00000294016	ensembl	human	known	69_37n	silent	62	18.42	14	SNP	1.000	T
ADCY9	115	genome.wustl.edu	37	16	4024709	4024709	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:4024709G>C	ENST00000294016.3	-	10	3369	c.2831C>G	c.(2830-2832)tCt>tGt	p.S944C		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	944					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)|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)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						AGTTAATACAGAACTGAAATT	0.368																																						dbGAP											0													70.0	67.0	68.0					16																	4024709		2197	4300	6497	-	-	-	SO:0001583	missense	0			AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.2831C>G	16.37:g.4024709G>C	ENSP00000294016:p.Ser944Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.S944C	ENST00000294016.3	37	c.2831	CCDS32382.1	16	.	.	.	.	.	.	.	.	.	.	G	15.46	2.839441	0.51057	.	.	ENSG00000162104	ENST00000294016	D	0.83992	-1.79	5.65	5.65	0.86999	.	0.497424	0.23874	N	0.043715	T	0.81578	0.4852	L	0.40543	1.245	0.43203	D	0.995052	P	0.52463	0.953	P	0.46975	0.533	T	0.82583	-0.0385	10	0.51188	T	0.08	.	16.8754	0.86051	0.0:0.0:1.0:0.0	.	944	O60503	ADCY9_HUMAN	C	944	ENSP00000294016:S944C	ENSP00000294016:S944C	S	-	2	0	ADCY9	3964710	1.000000	0.71417	0.990000	0.47175	0.346000	0.29079	5.586000	0.67503	2.663000	0.90544	0.655000	0.94253	TCT	ADCY9	-	NULL	ENSG00000162104		0.368	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY9	HGNC	protein_coding	OTTHUMT00000438076.1	76	0.00	0	G			4024709	4024709	-1	no_errors	ENST00000294016	ensembl	human	known	69_37n	missense	55	21.43	15	SNP	1.000	C
ADCY7	113	genome.wustl.edu	37	16	50344681	50344681	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:50344681G>A	ENST00000394697.2	+	19	2584	c.2244G>A	c.(2242-2244)ctG>ctA	p.L748L	ADCY7_ENST00000254235.3_Silent_p.L748L			P51828	ADCY7_HUMAN	adenylate cyclase 7	748					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 ethanol (GO:0071361)|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)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|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)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		TTGTGCTGCTGACAGTGGCCC	0.627																																						dbGAP											0													114.0	80.0	91.0					16																	50344681		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"""Adenylate cyclases"""	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.2244G>A	16.37:g.50344681G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVA6	Silent	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.L748	ENST00000394697.2	37	c.2244	CCDS10741.1	16																																																																																			ADCY7	-	NULL	ENSG00000121281		0.627	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY7	HGNC	protein_coding	OTTHUMT00000256877.3	48	0.00	0	G			50344681	50344681	+1	no_errors	ENST00000254235	ensembl	human	known	69_37n	silent	23	30.30	10	SNP	1.000	A
ADD2	119	genome.wustl.edu	37	2	70919586	70919586	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:70919586C>T	ENST00000264436.4	-	7	1098	c.654G>A	c.(652-654)gcG>gcA	p.A218A	AC007395.3_ENST00000457851.1_RNA|ADD2_ENST00000430656.1_Silent_p.A234A|ADD2_ENST00000407644.2_Silent_p.A218A|ADD2_ENST00000355733.3_Silent_p.A218A|ADD2_ENST00000413157.2_Silent_p.A218A	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	218					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						CGTCGGGCCTCGCTGCATAGA	0.602																																						dbGAP											0													78.0	66.0	70.0					2																	70919586		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.654G>A	2.37:g.70919586C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Silent	SNP	pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N	p.A218	ENST00000264436.4	37	c.654	CCDS1906.1	2																																																																																			ADD2	-	pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N	ENSG00000075340		0.602	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADD2	HGNC	protein_coding	OTTHUMT00000251918.4	50	0.00	0	C	NM_001617		70919586	70919586	-1	no_errors	ENST00000264436	ensembl	human	known	69_37n	silent	50	24.24	16	SNP	0.998	T
ADGB	79747	genome.wustl.edu	37	6	146956641	146956641	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:146956641G>C	ENST00000397944.3	+	2	281	c.205G>C	c.(205-207)Gaa>Caa	p.E69Q	ADGB_ENST00000367493.3_5'UTR	NM_024694.3	NP_078970.3	Q8N7X0	ADGB_HUMAN	androglobin	69					oxygen transport (GO:0015671)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			breast(1)|endometrium(2)|kidney(2)	5						AGGTGCAAAAGAAAAGGACAA	0.368																																						dbGAP											0													94.0	86.0	89.0					6																	146956641		692	1591	2283	-	-	-	SO:0001583	missense	0			AK026774		6q24.2	2012-02-03	2012-02-03	2012-02-03	ENSG00000118492	ENSG00000118492			21212	protein-coding gene	gene with protein product		614630	"""chromosome 6 open reading frame 103"""	C6orf103		22115833	Standard	NM_024694		Approved	FLJ23121, dJ408K24.1	uc010khx.3	Q8N7X0	OTTHUMG00000015758	ENST00000397944.3:c.205G>C	6.37:g.146956641G>C	ENSP00000381036:p.Glu69Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T402|Q5T904|Q5T905	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,superfamily_Globin-like,smart_Peptidase_C2_calpain_cat,pfscan_IQ_motif_EF-hand-BS,pfscan_Peptidase_C2_calpain_cat	p.E69Q	ENST00000397944.3	37	c.205		6	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056416	0.76074	.	.	ENSG00000118492	ENST00000397944;ENST00000522242	T;T	0.48522	0.81;0.81	4.83	4.83	0.62350	Peptidase C2, calpain, catalytic domain (1);	0.291903	0.32785	N	0.005655	T	0.57858	0.2082	L	0.59436	1.845	0.35463	D	0.796688	D	0.76494	0.999	D	0.70716	0.97	T	0.63950	-0.6521	10	0.72032	D	0.01	-39.3008	17.0991	0.86644	0.0:0.0:1.0:0.0	.	69	Q8N7X0	CAN7L_HUMAN	Q	69;63	ENSP00000381036:E69Q;ENSP00000428035:E63Q	ENSP00000381036:E69Q	E	+	1	0	C6orf103	146998334	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	6.701000	0.74624	2.393000	0.81446	0.650000	0.86243	GAA	ADGB	-	smart_Peptidase_C2_calpain_cat	ENSG00000118492		0.368	ADGB-009	KNOWN	basic|appris_principal	protein_coding	ADGB	HGNC	protein_coding	OTTHUMT00000376350.2	117	0.00	0	G	NM_024694		146956641	146956641	+1	no_errors	ENST00000397944	ensembl	human	known	69_37n	missense	78	24.27	25	SNP	1.000	C
ADGB	79747	genome.wustl.edu	37	6	146977959	146977959	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:146977959G>C	ENST00000397944.3	+	5	531	c.455G>C	c.(454-456)gGa>gCa	p.G152A	ADGB_ENST00000367493.3_5'UTR	NM_024694.3	NP_078970.3	Q8N7X0	ADGB_HUMAN	androglobin	152	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				oxygen transport (GO:0015671)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			breast(1)|endometrium(2)|kidney(2)	5						ATCTTCAATGGAGGAATTTTG	0.413																																						dbGAP											0													85.0	77.0	79.0					6																	146977959		692	1591	2283	-	-	-	SO:0001583	missense	0			AK026774		6q24.2	2012-02-03	2012-02-03	2012-02-03	ENSG00000118492	ENSG00000118492			21212	protein-coding gene	gene with protein product		614630	"""chromosome 6 open reading frame 103"""	C6orf103		22115833	Standard	NM_024694		Approved	FLJ23121, dJ408K24.1	uc010khx.3	Q8N7X0	OTTHUMG00000015758	ENST00000397944.3:c.455G>C	6.37:g.146977959G>C	ENSP00000381036:p.Gly152Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T402|Q5T904|Q5T905	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,superfamily_Globin-like,smart_Peptidase_C2_calpain_cat,pfscan_IQ_motif_EF-hand-BS,pfscan_Peptidase_C2_calpain_cat	p.G152A	ENST00000397944.3	37	c.455		6	.	.	.	.	.	.	.	.	.	.	G	5.421	0.262889	0.10294	.	.	ENSG00000118492	ENST00000397944;ENST00000522242	T;T	0.41758	0.99;0.99	5.31	3.51	0.40186	Peptidase C2, calpain, catalytic domain (2);	0.207425	0.40144	N	0.001174	T	0.08714	0.0216	L	0.35414	1.06	0.09310	N	1	P	0.34864	0.473	B	0.28553	0.091	T	0.26189	-1.0110	10	0.09843	T	0.71	-10.3918	6.9104	0.24333	0.1601:0.4091:0.4308:0.0	.	152	Q8N7X0	CAN7L_HUMAN	A	152;146	ENSP00000381036:G152A;ENSP00000428035:G146A	ENSP00000381036:G152A	G	+	2	0	C6orf103	147019652	0.197000	0.23362	0.162000	0.22713	0.995000	0.86356	0.436000	0.21526	0.722000	0.32252	0.650000	0.86243	GGA	ADGB	-	smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat	ENSG00000118492		0.413	ADGB-009	KNOWN	basic|appris_principal	protein_coding	ADGB	HGNC	protein_coding	OTTHUMT00000376350.2	77	0.00	0	G	NM_024694		146977959	146977959	+1	no_errors	ENST00000397944	ensembl	human	known	69_37n	missense	23	53.06	26	SNP	0.083	C
ADH5	128	genome.wustl.edu	37	4	99997596	99997596	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:99997596G>A	ENST00000296412.8	-	6	722	c.672C>T	c.(670-672)atC>atT	p.I224I	ADH5_ENST00000512991.1_5'UTR	NM_000671.3	NP_000662.3			alcohol dehydrogenase 5 (class III), chi polypeptide											endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.5e-07)		TATCTTTATTGATGTCCACAC	0.468																																						dbGAP											0													53.0	53.0	53.0					4																	99997596		1937	4159	6096	-	-	-	SO:0001819	synonymous_variant	0			M29872	CCDS47111.1	4q23	2012-07-13	2003-06-19		ENSG00000197894	ENSG00000197894	1.1.1.284	"""Alcohol dehydrogenases"""	253	protein-coding gene	gene with protein product		103710	"""formaldehyde dehydrogenase"""	FDH		1446828, 6424546	Standard	NM_000671		Approved	ADH-3, ADHX	uc003hui.3	P11766	OTTHUMG00000161230	ENST00000296412.8:c.672C>T	4.37:g.99997596G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,tigrfam_ADH_3	p.I224	ENST00000296412.8	37	c.672	CCDS47111.1	4																																																																																			ADH5	-	pfam_ADH_C,tigrfam_ADH_3	ENSG00000197894		0.468	ADH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADH5	HGNC	protein_coding	OTTHUMT00000364224.1	87	0.00	0	G	NM_000671		99997596	99997596	-1	no_errors	ENST00000296412	ensembl	human	known	69_37n	silent	44	32.31	21	SNP	1.000	A
ADH1C	126	genome.wustl.edu	37	4	100257925	100257925	+	RNA	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:100257925G>A	ENST00000515683.1	-	0	1463					NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|zinc ion binding (GO:0008270)								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	CGTCAGGACGGTACGGATACT	0.423																																						dbGAP											0													185.0	172.0	176.0					4																	100257925		2203	4300	6503	-	-	-			0			M12272		4q23	2010-03-16			ENSG00000248144	ENSG00000248144	1.1.1.1	"""Alcohol dehydrogenases"""	251	protein-coding gene	gene with protein product		103730		ADH3		3006456	Standard	NM_000669		Approved		uc031sgp.1	P00326	OTTHUMG00000161422		4.37:g.100257925G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4PJ18|Q5WRV0|Q6LBW4|Q6NWV0|Q6NZA7	Missense_Mutation	SNP	NULL	p.T371I	ENST00000515683.1	37	c.1112		4																																																																																			ADH1C	-	NULL	ENSG00000248144		0.423	ADH1C-001	KNOWN	basic	polymorphic_pseudogene	ADH1C	HGNC	polymorphic_pseudogene	OTTHUMT00000364877.2	137	0.00	0	G	NM_000669		100257925	100257925	-1	pseudogene	ENST00000515683	ensembl	human	known	69_37n	missense	119	22.22	34	SNP	0.225	A
ADNP	23394	genome.wustl.edu	37	20	49509051	49509051	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:49509051C>T	ENST00000396029.3	-	5	2767	c.2200G>A	c.(2200-2202)Gat>Aat	p.D734N	ADNP_ENST00000349014.3_Missense_Mutation_p.D734N|ADNP_ENST00000396032.3_Missense_Mutation_p.D734N|ADNP_ENST00000371602.4_Missense_Mutation_p.D734N	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	734					negative regulation of neuron apoptotic process (GO:0043524)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						TCACTATCATCATCTAACTTT	0.443																																						dbGAP											0													78.0	78.0	78.0					20																	49509051		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126		"""Homeoboxes / ZF class"""	15766	protein-coding gene	gene with protein product	"""ADNP homeobox 1"""	611386	"""activity-dependent neuroprotector"""			9872452, 11013255	Standard	NM_015339		Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.2200G>A	20.37:g.49509051C>T	ENSP00000379346:p.Asp734Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P5Y2|O94881|Q5BKU2|Q9UG34	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.D734N	ENST00000396029.3	37	c.2200	CCDS13433.1	20	.	.	.	.	.	.	.	.	.	.	C	26.7	4.761410	0.89932	.	.	ENSG00000101126	ENST00000371602;ENST00000349014;ENST00000396029;ENST00000396032	.	.	.	6.07	5.14	0.70334	.	0.378221	0.31809	N	0.007025	T	0.55955	0.1953	L	0.44542	1.39	0.40647	D	0.982005	B	0.02656	0.0	B	0.04013	0.001	T	0.54029	-0.8354	9	0.48119	T	0.1	-15.4403	15.2523	0.73556	0.0:0.9332:0.0:0.0668	.	734	Q9H2P0	ADNP_HUMAN	N	734	.	ENSP00000342905:D734N	D	-	1	0	ADNP	48942458	1.000000	0.71417	0.708000	0.30435	0.924000	0.55760	5.692000	0.68256	1.584000	0.49913	0.655000	0.94253	GAT	ADNP	-	NULL	ENSG00000101126		0.443	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADNP	HGNC	protein_coding	OTTHUMT00000079705.2	74	0.00	0	C	NM_181442		49509051	49509051	-1	no_errors	ENST00000349014	ensembl	human	known	69_37n	missense	98	15.52	18	SNP	0.969	T
ADNP2	22850	genome.wustl.edu	37	18	77896195	77896195	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr18:77896195G>T	ENST00000262198.4	+	4	3354	c.2899G>T	c.(2899-2901)Gaa>Taa	p.E967*		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	967					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|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)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		AGTCAGTGGTGAAGTGATGCA	0.547																																						dbGAP											0													76.0	80.0	78.0					18																	77896195		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	23803	protein-coding gene	gene with protein product			"""zinc finger protein 508"""	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.2899G>T	18.37:g.77896195G>T	ENSP00000262198:p.Glu967*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K951|O94943|Q9H9P3	Nonsense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2	p.E967*	ENST00000262198.4	37	c.2899	CCDS32853.1	18	.	.	.	.	.	.	.	.	.	.	G	40	7.931064	0.98568	.	.	ENSG00000101544	ENST00000262198	.	.	.	5.03	5.03	0.67393	.	0.113641	0.39341	N	0.001397	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-29.0321	18.5466	0.91048	0.0:0.0:1.0:0.0	.	.	.	.	X	967	.	.	E	+	1	0	ADNP2	75997186	0.993000	0.37304	0.725000	0.30721	0.009000	0.06853	2.387000	0.44389	2.612000	0.88384	0.655000	0.94253	GAA	ADNP2	-	NULL	ENSG00000101544		0.547	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADNP2	HGNC	protein_coding	OTTHUMT00000418979.1	47	0.00	0	G	NM_014913		77896195	77896195	+1	no_errors	ENST00000262198	ensembl	human	known	69_37n	nonsense	24	33.33	12	SNP	0.608	T
ADRBK1	156	genome.wustl.edu	37	11	67047367	67047367	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:67047367G>A	ENST00000308595.5	+	6	789	c.499G>A	c.(499-501)Gag>Aag	p.E167K	ADRBK1_ENST00000526285.1_Missense_Mutation_p.E167K	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	167	N-terminal.|RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				activation of phospholipase C activity (GO:0007202)|cardiac muscle contraction (GO:0060048)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of striated muscle contraction (GO:0045988)|negative regulation of the force of heart contraction by chemical signal (GO:0003108)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of catecholamine secretion (GO:0033605)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	GAAATTCATTGAGAGGTGAGA	0.567																																						dbGAP											0													80.0	77.0	78.0					11																	67047367		2200	4295	6495	-	-	-	SO:0001583	missense	0			X61157	CCDS8156.1	11q13	2013-01-10			ENSG00000173020	ENSG00000173020		"""Pleckstrin homology (PH) domain containing"""	289	protein-coding gene	gene with protein product		109635				2037065	Standard	NM_001619		Approved	GRK2, BARK1	uc009yrn.1	P25098	OTTHUMG00000167104	ENST00000308595.5:c.499G>A	11.37:g.67047367G>A	ENSP00000312262:p.Glu167Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B0ZBE1|Q13837|Q6GTT3	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase	p.E167K	ENST00000308595.5	37	c.499	CCDS8156.1	11	.	.	.	.	.	.	.	.	.	.	G	20.9	4.062957	0.76187	.	.	ENSG00000173020	ENST00000308595;ENST00000526285	T;T	0.01647	4.71;4.71	5.13	5.13	0.70059	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.000000	0.56097	D	0.000032	T	0.03011	0.0089	L	0.45285	1.41	0.80722	D	1	B;B	0.31459	0.324;0.012	B;B	0.31191	0.125;0.041	T	0.56226	-0.8014	10	0.52906	T	0.07	-16.9523	18.9688	0.92707	0.0:0.0:1.0:0.0	.	167;167	P25098;E9PRV7	ARBK1_HUMAN;.	K	167	ENSP00000312262:E167K;ENSP00000434126:E167K	ENSP00000312262:E167K	E	+	1	0	ADRBK1	66803943	1.000000	0.71417	0.985000	0.45067	0.892000	0.51952	3.705000	0.54823	2.564000	0.86499	0.591000	0.81541	GAG	ADRBK1	-	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal	ENSG00000173020		0.567	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRBK1	HGNC	protein_coding	OTTHUMT00000393153.1	69	0.00	0	G	NM_001619		67047367	67047367	+1	no_errors	ENST00000308595	ensembl	human	known	69_37n	missense	137	15.95	26	SNP	1.000	A
ADRM1	11047	genome.wustl.edu	37	20	60881304	60881304	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:60881304C>G	ENST00000253003.2	+	4	428	c.382C>G	c.(382-384)Ctg>Gtg	p.L128V	ADRM1_ENST00000462554.1_3'UTR|LAMA5_ENST00000492698.1_5'Flank|RP11-157P1.4_ENST00000414042.1_RNA	NM_007002.2|NM_175573.1	NP_008933.2|NP_783163.1	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1	128	Interaction with PSMD1.|PH.				positive regulation of endopeptidase activity (GO:0010950)|proteasome assembly (GO:0043248)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	endopeptidase activator activity (GO:0061133)|protease binding (GO:0002020)|proteasome binding (GO:0070628)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			CAACGAGTATCTGAACAACCC	0.612																																						dbGAP											0													168.0	144.0	152.0					20																	60881304		2203	4300	6503	-	-	-	SO:0001583	missense	0			D64154	CCDS13496.1, CCDS74747.1	20q13.33	2008-05-22			ENSG00000130706	ENSG00000130706			15759	protein-coding gene	gene with protein product		610650				8033103	Standard	NM_007002		Approved	GP110, Rpn13, ARM1	uc002yco.3	Q16186	OTTHUMG00000032904	ENST00000253003.2:c.382C>G	20.37:g.60881304C>G	ENSP00000253003:p.Leu128Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PKB1|Q96FJ7|Q9H1P2	Missense_Mutation	SNP	pfam_26S_Psome_Ubiquitin-recp_Rpn13	p.L128V	ENST00000253003.2	37	c.382	CCDS13496.1	20	.	.	.	.	.	.	.	.	.	.	C	17.54	3.414129	0.62511	.	.	ENSG00000130706	ENST00000370744;ENST00000253003	.	.	.	5.01	3.96	0.45880	.	0.000000	0.85682	D	0.000000	D	0.84160	0.5411	M	0.94021	3.485	0.80722	D	1	P;P	0.49253	0.796;0.921	P;D	0.65573	0.725;0.936	D	0.87240	0.2266	9	0.72032	D	0.01	-15.2682	11.6847	0.51479	0.0:0.8761:0.0:0.1239	.	128;128	B4DMP7;Q16186	.;ADRM1_HUMAN	V	128	.	ENSP00000253003:L128V	L	+	1	2	ADRM1	60314699	0.998000	0.40836	0.968000	0.41197	0.878000	0.50629	3.713000	0.54882	2.334000	0.79466	0.561000	0.74099	CTG	ADRM1	-	pfam_26S_Psome_Ubiquitin-recp_Rpn13	ENSG00000130706		0.612	ADRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRM1	HGNC	protein_coding	OTTHUMT00000080007.1	54	0.00	0	C			60881304	60881304	+1	no_errors	ENST00000253003	ensembl	human	known	69_37n	missense	93	21.19	25	SNP	1.000	G
ADSSL1	122622	genome.wustl.edu	37	14	105196465	105196465	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:105196465G>A	ENST00000332972.5	+	1	395	c.236G>A	c.(235-237)aGg>aAg	p.R79K	ADSSL1_ENST00000330877.2_Intron	NM_199165.1	NP_954634.1			adenylosuccinate synthase like 1											central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)		AGGGCTTGGAGGAGCCACGGG	0.662																																						dbGAP											0													20.0	13.0	15.0					14																	105196465		2045	4034	6079	-	-	-	SO:0001583	missense	0			AK095921	CCDS9990.1, CCDS9991.1	14q32.33	2010-08-05			ENSG00000185100	ENSG00000185100			20093	protein-coding gene	gene with protein product		612498					Standard	NM_199165		Approved	FLJ38602	uc001ype.3	Q8N142		ENST00000332972.5:c.236G>A	14.37:g.105196465G>A	ENSP00000333019:p.Arg79Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Adenylosuccinate_synthetase,smart_Adenylosuccinate_synthetase,tigrfam_Adenylosuccinate_synthetase	p.R79K	ENST00000332972.5	37	c.236	CCDS9991.1	14	.	.	.	.	.	.	.	.	.	.	G	11.93	1.786274	0.31593	.	.	ENSG00000185100	ENST00000332972	T	0.44482	0.92	0.759	-0.3	0.12804	.	0.144168	0.45361	U	0.000373	T	0.16769	0.0403	N	0.08118	0	0.19300	N	0.999977	B	0.10296	0.003	B	0.04013	0.001	T	0.14699	-1.0463	9	0.21540	T	0.41	-0.9063	.	.	.	.	79	Q8N142-2	.	K	79	ENSP00000333019:R79K	ENSP00000333019:R79K	R	+	2	0	ADSSL1	104267510	0.007000	0.16637	0.001000	0.08648	0.417000	0.31264	0.568000	0.23623	-0.139000	0.11414	0.205000	0.17691	AGG	ADSSL1	-	NULL	ENSG00000185100		0.662	ADSSL1-002	KNOWN	basic|CCDS	protein_coding	ADSSL1	HGNC	protein_coding	OTTHUMT00000410531.1	12	0.00	0	G			105196465	105196465	+1	no_errors	ENST00000332972	ensembl	human	known	69_37n	missense	12	29.41	5	SNP	0.004	A
AEBP1	165	genome.wustl.edu	37	7	44150827	44150827	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:44150827G>A	ENST00000223357.3	+	14	2010	c.1705G>A	c.(1705-1707)Gac>Aac	p.D569N	MIR4649_ENST00000582839.1_RNA|AEBP1_ENST00000450684.2_Missense_Mutation_p.D144N	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	569	Interaction with MAPK1 and MAPK3. {ECO:0000250}.|Interaction with PTEN. {ECO:0000250}.			D -> G (in Ref. 2; BAC87026). {ECO:0000305}.	cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|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 transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						CAGCTACAAGGACATGCGCCA	0.597																																						dbGAP											0													53.0	49.0	50.0					7																	44150827		2202	4300	6502	-	-	-	SO:0001583	missense	0			D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"""aortic carboxypeptidase-like protein"", ""adipocyte enhancer binding protein 1"""	602981	"""AE-binding protein 1"""			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.1705G>A	7.37:g.44150827G>A	ENSP00000223357:p.Asp569Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14	p.D569N	ENST00000223357.3	37	c.1705	CCDS5476.1	7	.	.	.	.	.	.	.	.	.	.	G	33	5.230906	0.95207	.	.	ENSG00000106624	ENST00000223357;ENST00000450684	T;T	0.03663	3.85;3.85	4.94	4.94	0.65067	Peptidase M14, carboxypeptidase A (1);	0.051431	0.85682	D	0.000000	T	0.17023	0.0409	M	0.66939	2.045	0.58432	D	0.999998	D;D	0.76494	0.995;0.999	D;D	0.70227	0.934;0.968	T	0.00201	-1.1926	10	0.72032	D	0.01	-53.9009	18.1351	0.89616	0.0:0.0:1.0:0.0	.	144;569	Q8IUX7-2;Q8IUX7	.;AEBP1_HUMAN	N	569;144	ENSP00000223357:D569N;ENSP00000398878:D144N	ENSP00000223357:D569N	D	+	1	0	AEBP1	44117352	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.362000	0.73077	2.455000	0.83008	0.555000	0.69702	GAC	AEBP1	-	smart_Peptidase_M14	ENSG00000106624		0.597	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AEBP1	HGNC	protein_coding	OTTHUMT00000250993.2	49	0.00	0	G	NM_001129		44150827	44150827	+1	no_errors	ENST00000223357	ensembl	human	known	69_37n	missense	47	18.97	11	SNP	1.000	A
AEBP1	165	genome.wustl.edu	37	7	44151894	44151894	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:44151894G>A	ENST00000223357.3	+	17	2496	c.2191G>A	c.(2191-2193)Gaa>Aaa	p.E731K	MIR4649_ENST00000582839.1_RNA|AEBP1_ENST00000450684.2_Missense_Mutation_p.E306K	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	731	Interaction with PTEN. {ECO:0000250}.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|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 transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						GCCCATCCCTGAACGCTACCT	0.592																																						dbGAP											0													47.0	49.0	48.0					7																	44151894		2203	4300	6503	-	-	-	SO:0001583	missense	0			D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"""aortic carboxypeptidase-like protein"", ""adipocyte enhancer binding protein 1"""	602981	"""AE-binding protein 1"""			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.2191G>A	7.37:g.44151894G>A	ENSP00000223357:p.Glu731Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14	p.E731K	ENST00000223357.3	37	c.2191	CCDS5476.1	7	.	.	.	.	.	.	.	.	.	.	G	23.4	4.412110	0.83340	.	.	ENSG00000106624	ENST00000223357;ENST00000450684	T;T	0.04083	3.71;3.71	5.12	5.12	0.69794	Peptidase M14, carboxypeptidase A (2);	0.110134	0.64402	D	0.000011	T	0.13841	0.0335	L	0.43152	1.355	0.48135	D	0.999599	P;P	0.48294	0.804;0.908	B;P	0.58620	0.225;0.842	T	0.00509	-1.1698	10	0.52906	T	0.07	-19.3102	17.6934	0.88275	0.0:0.0:1.0:0.0	.	306;731	Q8IUX7-2;Q8IUX7	.;AEBP1_HUMAN	K	731;306	ENSP00000223357:E731K;ENSP00000398878:E306K	ENSP00000223357:E731K	E	+	1	0	AEBP1	44118419	1.000000	0.71417	0.997000	0.53966	0.807000	0.45602	7.861000	0.87004	2.538000	0.85594	0.462000	0.41574	GAA	AEBP1	-	pfam_Peptidase_M14,smart_Peptidase_M14	ENSG00000106624		0.592	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AEBP1	HGNC	protein_coding	OTTHUMT00000250993.2	44	0.00	0	G	NM_001129		44151894	44151894	+1	no_errors	ENST00000223357	ensembl	human	known	69_37n	missense	32	15.79	6	SNP	1.000	A
AFAP1L1	134265	genome.wustl.edu	37	5	148712258	148712258	+	Splice_Site	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:148712258G>A	ENST00000296721.4	+	17	2074	c.1976G>A	c.(1975-1977)gGa>gAa	p.G659E	AFAP1L1_ENST00000515000.1_Splice_Site_p.G659E	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	659						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTGATTCAGGAGCAAAATTA	0.552																																						dbGAP											0													29.0	34.0	32.0					5																	148712258		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AK094067	CCDS34274.1, CCDS54932.1	5q33.1	2013-01-10			ENSG00000157510	ENSG00000157510		"""Pleckstrin homology (PH) domain containing"""	26714	protein-coding gene	gene with protein product		614410					Standard	NM_152406		Approved	FLJ36748	uc003lqh.3	Q8TED9	OTTHUMG00000163441	ENST00000296721.4:c.1976-1G>A	5.37:g.148712258G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q08AN4|Q08AN5|Q8IW82|Q8N8Z5|Q8N9Q4	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.G659E	ENST00000296721.4	37	c.1976	CCDS34274.1	5	.	.	.	.	.	.	.	.	.	.	G	22.9	4.344164	0.82022	.	.	ENSG00000157510	ENST00000296721;ENST00000515000	T;T	0.16324	2.35;2.43	5.53	5.53	0.82687	.	0.191405	0.46145	D	0.000311	T	0.43809	0.1264	M	0.71036	2.16	0.53005	D	0.999965	D;D	0.89917	0.998;1.0	D;D	0.91635	0.967;0.999	T	0.14783	-1.0460	9	.	.	.	.	19.0679	0.93119	0.0:0.0:1.0:0.0	.	659;659	Q8TED9-2;Q8TED9	.;AF1L1_HUMAN	E	659	ENSP00000296721:G659E;ENSP00000424427:G659E	.	G	+	2	0	AFAP1L1	148692451	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	3.633000	0.54295	2.608000	0.88229	0.561000	0.74099	GGA	AFAP1L1	-	NULL	ENSG00000157510		0.552	AFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFAP1L1	HGNC	protein_coding	OTTHUMT00000373443.1	26	0.00	0	G	NM_152406	Missense_Mutation	148712258	148712258	+1	no_errors	ENST00000296721	ensembl	human	known	69_37n	missense	28	24.32	9	SNP	0.996	A
AFAP1L2	84632	genome.wustl.edu	37	10	116060265	116060265	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:116060265G>C	ENST00000304129.4	-	14	1756	c.1727C>G	c.(1726-1728)tCa>tGa	p.S576*	AFAP1L2_ENST00000545353.1_Nonsense_Mutation_p.S629*|AFAP1L2_ENST00000369271.3_Nonsense_Mutation_p.S576*|AFAP1L2_ENST00000491814.1_5'UTR			Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	576					inflammatory response (GO:0006954)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of interleukin-6 production (GO:0032675)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	protein tyrosine kinase activator activity (GO:0030296)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		ACCTGGGCCTGAGTCTGCCGG	0.622																																						dbGAP											0													61.0	62.0	62.0					10																	116060265		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC024314	CCDS31286.1, CCDS31287.1	10q26.11	2013-01-10	2007-02-07	2007-02-07	ENSG00000169129	ENSG00000169129		"""Pleckstrin homology (PH) domain containing"""	25901	protein-coding gene	gene with protein product		612420	"""KIAA1914"""	KIAA1914		11572484, 17412687	Standard	XM_005270239		Approved	FLJ14564, Em:AC005383.4, XB130	uc001lbn.3	Q8N4X5	OTTHUMG00000019086	ENST00000304129.4:c.1727C>G	10.37:g.116060265G>C	ENSP00000303042:p.Ser576*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6P7|B3KVQ8|Q2UZW3|Q8TB54|Q96PX4|Q96SY5	Nonsense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S629*	ENST00000304129.4	37	c.1886	CCDS31286.1	10	.	.	.	.	.	.	.	.	.	.	G	20.1	3.936804	0.73557	.	.	ENSG00000169129	ENST00000369271;ENST00000304129;ENST00000392974;ENST00000545353	.	.	.	5.32	-0.124	0.13523	.	0.962132	0.08669	N	0.911169	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	1.0827	1.647	0.02764	0.2089:0.1152:0.4399:0.236	.	.	.	.	X	576;576;603;629	.	ENSP00000303042:S576X	S	-	2	0	AFAP1L2	116050255	0.001000	0.12720	0.000000	0.03702	0.006000	0.05464	0.998000	0.29744	0.052000	0.16007	0.655000	0.94253	TCA	AFAP1L2	-	NULL	ENSG00000169129		0.622	AFAP1L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFAP1L2	HGNC	protein_coding	OTTHUMT00000050462.1	52	0.00	0	G	NM_032550		116060265	116060265	-1	no_errors	ENST00000545353	ensembl	human	known	69_37n	nonsense	41	26.79	15	SNP	0.000	C
AFF2	2334	genome.wustl.edu	37	X	148037455	148037455	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:148037455G>T	ENST00000370460.2	+	11	2359	c.1880G>T	c.(1879-1881)gGg>gTg	p.G627V	AFF2_ENST00000342251.3_Missense_Mutation_p.G594V|AFF2_ENST00000370457.5_Missense_Mutation_p.G594V|AFF2_ENST00000286437.5_Missense_Mutation_p.G268V	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	627					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AGGACAATTGGGAAAAAACAG	0.438																																						dbGAP											0													90.0	96.0	94.0					X																	148037455		2203	4300	6503	-	-	-	SO:0001583	missense	0			U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.1880G>T	X.37:g.148037455G>T	ENSP00000359489:p.Gly627Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.G627V	ENST00000370460.2	37	c.1880	CCDS14684.1	X	.	.	.	.	.	.	.	.	.	.	G	17.20	3.327780	0.60743	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68	5.5	4.6	0.57074	.	0.120251	0.53938	D	0.000043	T	0.71970	0.3403	L	0.55213	1.73	0.80722	D	1	P;P;P;P;P;P	0.46784	0.884;0.859;0.859;0.859;0.859;0.884	P;P;P;P;P;P	0.50490	0.642;0.509;0.509;0.509;0.509;0.642	T	0.74044	-0.3791	10	0.56958	D	0.05	.	10.55	0.45083	0.0:0.1396:0.7126:0.1478	.	268;592;594;588;617;627	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	V	627;594;594;268	ENSP00000359489:G627V;ENSP00000359486:G594V;ENSP00000345459:G594V;ENSP00000286437:G268V	ENSP00000286437:G268V	G	+	2	0	AFF2	147845155	1.000000	0.71417	0.997000	0.53966	0.934000	0.57294	5.499000	0.66937	2.295000	0.77249	0.556000	0.70494	GGG	AFF2	-	pfam_TF_AF4/FMR2	ENSG00000155966		0.438	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFF2	HGNC	protein_coding	OTTHUMT00000058673.2	50	0.00	0	G	NM_002025		148037455	148037455	+1	no_errors	ENST00000370460	ensembl	human	known	69_37n	missense	61	21.79	17	SNP	0.989	T
AGAP1	116987	genome.wustl.edu	37	2	236839416	236839416	+	Silent	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:236839416C>A	ENST00000304032.8	+	12	1912	c.1332C>A	c.(1330-1332)gtC>gtA	p.V444V	AGAP1_ENST00000336665.5_Intron|AGAP1_ENST00000428334.2_Silent_p.V283V|AGAP1_ENST00000409538.1_Intron	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	444	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TAGGGAATGTCACTAGTGCAT	0.567																																						dbGAP											0													82.0	77.0	78.0					2																	236839416		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16922	protein-coding gene	gene with protein product		608651	"""centaurin, gamma 2"""	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.1332C>A	2.37:g.236839416C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTX7|Q541S5|Q6P9D7|Q9NV93	Missense_Mutation	SNP	pfscan_Pleckstrin_homology	p.H78N	ENST00000304032.8	37	c.232	CCDS33408.1	2	.	.	.	.	.	.	.	.	.	.	C	10.53	1.375824	0.24857	.	.	ENSG00000157985	ENST00000448025	.	.	.	5.36	1.89	0.25635	.	.	.	.	.	T	0.58250	0.2109	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53265	-0.8463	4	.	.	.	.	9.528	0.39175	0.0:0.2589:0.6333:0.1078	.	.	.	.	N	78	.	.	H	+	1	0	AGAP1	236504155	1.000000	0.71417	0.993000	0.49108	0.996000	0.88848	2.358000	0.44134	0.682000	0.31407	0.655000	0.94253	CAC	AGAP1	-	NULL	ENSG00000157985		0.567	AGAP1-001	KNOWN	basic|CCDS	protein_coding	AGAP1	HGNC	protein_coding	OTTHUMT00000257076.2	51	0.00	0	C	NM_014914		236839416	236839416	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000448025	ensembl	human	novel	69_37n	missense	62	19.23	15	SNP	1.000	A
AGAP2	116986	genome.wustl.edu	37	12	58126638	58126638	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:58126638G>C	ENST00000547588.1	-	6	1673	c.1674C>G	c.(1672-1674)gtC>gtG	p.V558V	AGAP2_ENST00000257897.3_Silent_p.V222V	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	558	G domain.				axon guidance (GO:0007411)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						CCTCCTGGAAGACCCGATCCA	0.567																																						dbGAP											0													288.0	276.0	280.0					12																	58126638		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF413077	CCDS8951.1, CCDS44932.1	12q13.2	2013-05-30	2008-09-22	2008-09-22	ENSG00000135439	ENSG00000135439		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16921	protein-coding gene	gene with protein product		605476	"""centaurin, gamma 1"""	CENTG1			Standard	NM_001122772		Approved		uc001spq.3	Q99490	OTTHUMG00000170285	ENST00000547588.1:c.1674C>G	12.37:g.58126638G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9F7|O00578|Q548E0|Q8IWU3	Missense_Mutation	SNP	pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase	p.L422V	ENST00000547588.1	37	c.1264	CCDS44932.1	12	.	.	.	.	.	.	.	.	.	.	G	8.979	0.974955	0.18736	.	.	ENSG00000135439	ENST00000328568	.	.	.	4.9	4.0	0.46444	.	.	.	.	.	T	0.56615	0.1997	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53753	-0.8394	4	.	.	.	.	7.4181	0.27057	0.0863:0.3281:0.5856:0.0	.	.	.	.	V	422	.	.	L	-	1	0	AGAP2	56412905	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.562000	0.36353	1.420000	0.47138	0.655000	0.94253	CTT	AGAP2	-	pfam_Small_GTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase	ENSG00000135439		0.567	AGAP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AGAP2	HGNC	protein_coding	OTTHUMT00000408367.1	56	0.00	0	G	NM_014770		58126638	58126638	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000328568	ensembl	human	novel	69_37n	missense	64	20.99	17	SNP	1.000	C
AGBL3	340351	genome.wustl.edu	37	7	134672694	134672694	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:134672694G>C	ENST00000436302.2	+	2	263	c.10G>C	c.(10-12)Gat>Cat	p.D4H	AGBL3_ENST00000458078.1_5'UTR|AGBL3_ENST00000359383.3_Missense_Mutation_p.D4H|AGBL3_ENST00000435976.2_Missense_Mutation_p.D4H|AGBL3_ENST00000494702.2_3'UTR	NM_178563.3	NP_848658.3	Q8NEM8	CBPC3_HUMAN	ATP/GTP binding protein-like 3	4						cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|lung(2)|skin(3)	10						GATGTCAGAAGATTCAGAAAA	0.308																																						dbGAP											0													145.0	140.0	141.0					7																	134672694		692	1588	2280	-	-	-	SO:0001583	missense	0			BC030651	CCDS47718.1	7q33	2014-06-23			ENSG00000146856	ENSG00000146856			27981	protein-coding gene	gene with protein product							Standard	NM_178563		Approved	MGC32955, CCP3	uc011kpw.2	Q8NEM8	OTTHUMG00000155406	ENST00000436302.2:c.10G>C	7.37:g.134672694G>C	ENSP00000388275:p.Asp4His	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z827|Q9H965	Missense_Mutation	SNP	pfam_Peptidase_M14	p.D4H	ENST00000436302.2	37	c.10	CCDS47718.1	7	.	.	.	.	.	.	.	.	.	.	G	16.56	3.158730	0.57368	.	.	ENSG00000146856	ENST00000436302;ENST00000359383;ENST00000435976;ENST00000455283	T;T;T;T	0.41065	2.7;1.14;2.73;1.01	4.7	4.7	0.59300	.	0.800178	0.10696	N	0.644585	T	0.39937	0.1097	N	0.22421	0.69	0.80722	D	1	P	0.49447	0.924	P	0.48141	0.568	T	0.28870	-1.0030	10	0.72032	D	0.01	-8.0958	13.3159	0.60407	0.0:0.0:1.0:0.0	.	4	Q8NEM8-4	.	H	4	ENSP00000388275:D4H;ENSP00000352343:D4H;ENSP00000401220:D4H;ENSP00000412700:D4H	ENSP00000275763:D4H	D	+	1	0	AGBL3	134323234	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.195000	0.58400	2.608000	0.88229	0.491000	0.48974	GAT	AGBL3	-	NULL	ENSG00000146856		0.308	AGBL3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	AGBL3	HGNC	protein_coding	OTTHUMT00000376655.1	153	0.00	0	G	NM_178563		134672694	134672694	+1	no_errors	ENST00000436302	ensembl	human	known	69_37n	missense	66	41.59	47	SNP	1.000	C
AGTPBP1	23287	genome.wustl.edu	37	9	88248161	88248161	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:88248161C>T	ENST00000357081.3	-	14	1575	c.1431G>A	c.(1429-1431)atG>atA	p.M477I	AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.M437I|AGTPBP1_ENST00000432218.1_Missense_Mutation_p.M315I|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.M489I			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	477					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						TGTTCTCCTTCATTACAACTT	0.363																																						dbGAP											0													62.0	59.0	60.0					9																	88248161		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 1"", ""tubulinyl-Tyr carboxypeptidase"", ""carboxypeptidase-tubulin"", ""tyrosine carboxypeptidase"", ""soluble carboxypeptidase"""	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.1431G>A	9.37:g.88248161C>T	ENSP00000349592:p.Met477Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Missense_Mutation	SNP	pfam_Peptidase_M14,superfamily_ARM-type_fold	p.M489I	ENST00000357081.3	37	c.1467		9	.	.	.	.	.	.	.	.	.	.	C	4.489	0.090680	0.08632	.	.	ENSG00000135049	ENST00000357081;ENST00000376083;ENST00000376109;ENST00000432218	T;T;T;T	0.41065	2.35;2.34;2.33;1.01	5.34	3.46	0.39613	.	1.430170	0.03391	N	0.201877	T	0.22820	0.0551	N	0.03324	-0.35	0.09310	N	0.999999	B;B;B;B	0.09022	0.002;0.0;0.0;0.0	B;B;B;B	0.08055	0.001;0.0;0.003;0.0	T	0.17837	-1.0356	10	0.28530	T	0.3	0.7917	6.1932	0.20536	0.0:0.6453:0.1376:0.2171	.	489;477;315;437	Q9UPW5-3;Q9UPW5;B4DHX2;Q9UPW5-2	.;CBPC1_HUMAN;.;.	I	477;437;489;315	ENSP00000349592:M477I;ENSP00000365251:M437I;ENSP00000365277:M489I;ENSP00000402804:M315I	ENSP00000349592:M477I	M	-	3	0	AGTPBP1	87437981	0.039000	0.19947	0.003000	0.11579	0.348000	0.29142	0.156000	0.16382	0.786000	0.33708	0.650000	0.86243	ATG	AGTPBP1	-	NULL	ENSG00000135049		0.363	AGTPBP1-004	KNOWN	basic	protein_coding	AGTPBP1	HGNC	protein_coding	OTTHUMT00000052893.1	45	0.00	0	C	NM_015239		88248161	88248161	-1	no_errors	ENST00000376109	ensembl	human	known	69_37n	missense	54	12.90	8	SNP	0.028	T
AGTR1	185	genome.wustl.edu	37	3	148459572	148459572	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:148459572C>G	ENST00000497524.1	+	2	1141	c.750C>G	c.(748-750)ttC>ttG	p.F250L	AGTR1_ENST00000402260.1_Missense_Mutation_p.F250L|AGTR1_ENST00000404754.2_Missense_Mutation_p.F250L|AGTR1_ENST00000349243.3_Missense_Mutation_p.F250L|AGTR1_ENST00000475347.1_Missense_Mutation_p.F250L|AGTR1_ENST00000461609.1_Missense_Mutation_p.F250L|AGTR1_ENST00000418473.2_Missense_Mutation_p.F250L|AGTR1_ENST00000542281.1_Missense_Mutation_p.F250L|AGTR1_ENST00000474935.1_Missense_Mutation_p.F250L	NM_009585.3	NP_033611.1	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	250					angiotensin-activated signaling pathway (GO:0038166)|calcium-mediated signaling (GO:0019722)|cell chemotaxis (GO:0060326)|G-protein coupled receptor signaling pathway (GO:0007186)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|phospholipase C-activating angiotensin-activated signaling pathway (GO:0086097)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of phospholipase A2 activity (GO:0032430)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|renin-angiotensin regulation of aldosterone production (GO:0002018)|Rho protein signal transduction (GO:0007266)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	angiotensin type I receptor activity (GO:0001596)|angiotensin type II receptor activity (GO:0004945)|bradykinin receptor binding (GO:0031711)|protein heterodimerization activity (GO:0046982)			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Azilsartan medoxomil(DB08822)|Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	TTTTCTTTTTCTTTTCCTGGA	0.353																																						dbGAP											0													57.0	60.0	59.0					3																	148459572		2203	4300	6503	-	-	-	SO:0001583	missense	0			M87290	CCDS3137.1	3q24	2012-08-08	2002-02-20		ENSG00000144891	ENSG00000144891		"""GPCR / Class A : Angiotensin receptors"""	336	protein-coding gene	gene with protein product		106165	"""angiotensin receptor 1B"""	AGTR1B		1550596	Standard	NM_009585		Approved	AT1, AT2R1, AGTR1A, AT2R1A, HAT1R, AG2S, AT2R1B, AT1B	uc003ewh.4	P30556	OTTHUMG00000159503	ENST00000497524.1:c.750C>G	3.37:g.148459572C>G	ENSP00000419422:p.Phe250Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13725|Q8TBK4	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_ATII_AT1_rcpt,prints_ATII_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Frt_met_rcpt,prints_Brdyknn_rcpt,prints_P2_purnocptor	p.F250L	ENST00000497524.1	37	c.750	CCDS3137.1	3	.	.	.	.	.	.	.	.	.	.	C	12.53	1.966343	0.34659	.	.	ENSG00000144891	ENST00000497524;ENST00000349243;ENST00000542281;ENST00000418473;ENST00000404754;ENST00000475347;ENST00000474935;ENST00000461609;ENST00000402260	T;T;T;T;T;T;T;T;T	0.19938	2.11;2.11;2.11;2.11;2.11;2.11;2.11;2.11;2.11	5.48	4.61	0.57282	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.28995	0.0720	L	0.54965	1.715	0.58432	D	0.999996	P	0.36438	0.553	P	0.47786	0.557	T	0.03651	-1.1016	10	0.36615	T	0.2	-20.3221	8.676	0.34179	0.0:0.7747:0.0:0.2253	.	250	P30556	AGTR1_HUMAN	L	250	ENSP00000419422:F250L;ENSP00000273430:F250L;ENSP00000443186:F250L;ENSP00000398832:F250L;ENSP00000385612:F250L;ENSP00000419783:F250L;ENSP00000418084:F250L;ENSP00000418851:F250L;ENSP00000385641:F250L	ENSP00000273430:F250L	F	+	3	2	AGTR1	149942262	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.624000	0.46444	1.319000	0.45190	0.655000	0.94253	TTC	AGTR1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_ATII_AT1_rcpt,prints_7TM_GPCR_Rhodpsn	ENSG00000144891		0.353	AGTR1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AGTR1	HGNC	protein_coding	OTTHUMT00000355807.1	45	0.00	0	C			148459572	148459572	+1	no_errors	ENST00000349243	ensembl	human	known	69_37n	missense	51	17.74	11	SNP	1.000	G
ETNPPL	64850	genome.wustl.edu	37	4	109674095	109674095	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:109674095C>T	ENST00000296486.3	-	6	728	c.574G>A	c.(574-576)Gaa>Aaa	p.E192K	ETNPPL_ENST00000512646.1_Missense_Mutation_p.E134K|ETNPPL_ENST00000510706.1_Missense_Mutation_p.E152K|ETNPPL_ENST00000411864.2_Missense_Mutation_p.E186K	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2	Q8TBG4	AT2L1_HUMAN	ethanolamine-phosphate phospho-lyase	192						mitochondrion (GO:0005739)	ethanolamine-phosphate phospho-lyase activity (GO:0050459)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)	p.E192K(1)									TTCTTCACTTCATCTGCATAA	0.363																																						dbGAP											1	Substitution - Missense(1)	lung(1)											187.0	177.0	181.0					4																	109674095		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.574G>A	4.37:g.109674095C>T	ENSP00000296486:p.Glu192Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z1Y0|E9PBY0|Q9H174	Missense_Mutation	SNP	pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom	p.E192K	ENST00000296486.3	37	c.574	CCDS3682.1	4	.	.	.	.	.	.	.	.	.	.	C	23.7	4.449833	0.84101	.	.	ENSG00000164089	ENST00000296486;ENST00000411864;ENST00000512646;ENST00000510706	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.46	5.46	0.80206	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.248903	0.47093	D	0.000257	T	0.58921	0.2156	L	0.52823	1.66	0.53005	D	0.999961	P;P;D	0.60575	0.915;0.896;0.988	P;P;P	0.62184	0.77;0.66;0.899	T	0.54410	-0.8298	9	.	.	.	-27.9784	19.3072	0.94167	0.0:1.0:0.0:0.0	.	134;186;192	E9PBY0;Q8TBG4-2;Q8TBG4	.;.;AT2L1_HUMAN	K	192;186;134;152	ENSP00000296486:E192K;ENSP00000392269:E186K;ENSP00000427065:E134K;ENSP00000423240:E152K	.	E	-	1	0	AGXT2L1	109893544	1.000000	0.71417	0.956000	0.39512	0.824000	0.46624	4.910000	0.63321	2.555000	0.86185	0.655000	0.94253	GAA	AGXT2L1	-	pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom	ENSG00000164089		0.363	ETNPPL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AGXT2L1	HGNC	protein_coding	OTTHUMT00000363508.1	192	0.00	0	C	NM_031279		109674095	109674095	-1	no_errors	ENST00000296486	ensembl	human	known	69_37n	missense	106	46.73	93	SNP	1.000	T
AHCTF1	25909	genome.wustl.edu	37	1	247004162	247004162	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:247004162G>A	ENST00000391829.2	-	36	6870	c.6747C>T	c.(6745-6747)aaC>aaT	p.N2249N	AHCTF1_ENST00000366508.1_Silent_p.N2284N|AHCTF1_ENST00000326225.3_Silent_p.N2258N|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	2249	Disordered. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			GTTTCTTTCTGTTCCTTCCAA	0.403																																					Colon(145;197 1800 4745 15099 26333)	dbGAP											0													46.0	48.0	47.0					1																	247004162		2203	4297	6500	-	-	-	SO:0001819	synonymous_variant	0				CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.6747C>T	1.37:g.247004162G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Silent	SNP	superfamily_Quinonprotein_ADH-like	p.N2258	ENST00000391829.2	37	c.6774		1																																																																																			AHCTF1	-	NULL	ENSG00000153207		0.403	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	AHCTF1	HGNC	protein_coding		124	0.00	0	G	NM_015446		247004162	247004162	-1	no_errors	ENST00000326225	ensembl	human	known	69_37n	silent	129	26.70	47	SNP	0.981	A
AHCTF1	25909	genome.wustl.edu	37	1	247013112	247013112	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:247013112C>G	ENST00000391829.2	-	33	6319	c.6196G>C	c.(6196-6198)Gaa>Caa	p.E2066Q	AHCTF1_ENST00000366508.1_Missense_Mutation_p.E2101Q|AHCTF1_ENST00000326225.3_Missense_Mutation_p.E2075Q|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	2066	Disordered. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			GTGCGTTCTTCTGATACTGAG	0.418																																					Colon(145;197 1800 4745 15099 26333)	dbGAP											0													191.0	162.0	172.0					1																	247013112		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.6196G>C	1.37:g.247013112C>G	ENSP00000375705:p.Glu2066Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	superfamily_Quinonprotein_ADH-like	p.E2075Q	ENST00000391829.2	37	c.6223		1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.214787	0.58452	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.46819	0.86;0.87;0.87	5.7	4.78	0.61160	.	0.092925	0.48286	D	0.000190	T	0.55449	0.1921	L	0.56769	1.78	0.27381	N	0.955405	D;D	0.57257	0.979;0.964	P;P	0.52957	0.714;0.521	T	0.53063	-0.8491	10	0.39692	T	0.17	-13.5957	14.2356	0.65925	0.0:0.8512:0.1488:0.0	.	2101;2066	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	Q	2101;2075;2066	ENSP00000355464:E2101Q;ENSP00000355465:E2075Q;ENSP00000375705:E2066Q	ENSP00000355465:E2075Q	E	-	1	0	AHCTF1	245079735	0.987000	0.35691	0.273000	0.24645	0.436000	0.31835	2.931000	0.48932	1.400000	0.46741	0.561000	0.74099	GAA	AHCTF1	-	NULL	ENSG00000153207		0.418	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	AHCTF1	HGNC	protein_coding		332	0.30	1	C	NM_015446		247013112	247013112	-1	no_errors	ENST00000326225	ensembl	human	known	69_37n	missense	417	14.49	71	SNP	0.921	G
AHCTF1	25909	genome.wustl.edu	37	1	247025377	247025377	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:247025377G>C	ENST00000391829.2	-	28	3742	c.3619C>G	c.(3619-3621)Ctt>Gtt	p.L1207V	AHCTF1_ENST00000366508.1_Missense_Mutation_p.L1242V|AHCTF1_ENST00000326225.3_Missense_Mutation_p.L1216V|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1207	Disordered. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.			L -> P (in Ref. 1; BAB78516). {ECO:0000305}.	cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			GTTGATCGAAGAGTAGACCTC	0.423																																					Colon(145;197 1800 4745 15099 26333)	dbGAP											0													63.0	64.0	64.0					1																	247025377		2202	4280	6482	-	-	-	SO:0001583	missense	0				CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.3619C>G	1.37:g.247025377G>C	ENSP00000375705:p.Leu1207Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	superfamily_Quinonprotein_ADH-like	p.L1216V	ENST00000391829.2	37	c.3646		1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.445731	0.25987	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.53640	0.61;0.62;0.62	5.64	4.71	0.59529	.	0.071896	0.56097	D	0.000023	T	0.60418	0.2267	L	0.54323	1.7	0.33709	D	0.615566	D;P;B	0.89917	1.0;0.525;0.39	D;B;B	0.72982	0.979;0.116;0.054	T	0.66917	-0.5802	10	0.21540	T	0.41	-10.4066	13.3421	0.60551	0.0741:0.0:0.9259:0.0	.	68;1242;1207	B3KTD2;Q8WYP5-2;Q8WYP5	.;.;ELYS_HUMAN	V	1242;1216;1207	ENSP00000355464:L1242V;ENSP00000355465:L1216V;ENSP00000375705:L1207V	ENSP00000355465:L1216V	L	-	1	0	AHCTF1	245092000	1.000000	0.71417	1.000000	0.80357	0.423000	0.31445	4.550000	0.60733	1.361000	0.45981	0.650000	0.86243	CTT	AHCTF1	-	NULL	ENSG00000153207		0.423	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	AHCTF1	HGNC	protein_coding		98	0.00	0	G	NM_015446		247025377	247025377	-1	no_errors	ENST00000326225	ensembl	human	known	69_37n	missense	125	16.11	24	SNP	1.000	C
AHI1	54806	genome.wustl.edu	37	6	135768202	135768202	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:135768202C>T	ENST00000367800.4	-	11	1939	c.1723G>A	c.(1723-1725)Gaa>Aaa	p.E575K	AHI1_ENST00000457866.2_Missense_Mutation_p.E575K|AHI1_ENST00000327035.6_Missense_Mutation_p.E575K	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	575					cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		AATCCAGGTTCTGTGTCTACT	0.403																																						dbGAP											0													216.0	218.0	217.0					6																	135768202		1896	4133	6029	-	-	-	SO:0001583	missense	0			AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"""WD repeat domain containing"""	21575	protein-coding gene	gene with protein product	"""Jouberin"""	608894	"""Abelson helper integration site"""			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.1723G>A	6.37:g.135768202C>T	ENSP00000356774:p.Glu575Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_SH3_domain,pfam_SH3_2,superfamily_WD40_repeat_dom,superfamily_SH3_domain,smart_WD40_repeat,smart_SH3_domain,pfscan_SH3_domain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_SH3_domain	p.E575K	ENST00000367800.4	37	c.1723	CCDS47483.1	6	.	.	.	.	.	.	.	.	.	.	C	17.99	3.523190	0.64747	.	.	ENSG00000135541	ENST00000367800;ENST00000457866;ENST00000265602;ENST00000327035;ENST00000367801	T;T;T;T	0.60548	0.24;0.24;0.24;0.18	6.07	6.07	0.98685	.	0.155438	0.56097	D	0.000021	T	0.50274	0.1606	L	0.41236	1.265	0.80722	D	1	D;D;P	0.60575	0.988;0.979;0.956	P;P;P	0.56216	0.794;0.628;0.468	T	0.36648	-0.9739	10	0.19147	T	0.46	-28.32	14.7663	0.69642	0.0:0.9316:0.0:0.0684	.	575;575;575	Q8N157-2;Q8N157;Q4FD35	.;AHI1_HUMAN;.	K	575	ENSP00000356774:E575K;ENSP00000388650:E575K;ENSP00000265602:E575K;ENSP00000322478:E575K	ENSP00000265602:E575K	E	-	1	0	AHI1	135809895	0.983000	0.35010	0.955000	0.39395	0.360000	0.29518	2.416000	0.44644	2.885000	0.99019	0.655000	0.94253	GAA	AHI1	-	NULL	ENSG00000135541		0.403	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	AHI1	HGNC	protein_coding	OTTHUMT00000391948.1	165	0.00	0	C	NM_017651		135768202	135768202	-1	no_errors	ENST00000265602	ensembl	human	known	69_37n	missense	132	18.52	30	SNP	0.943	T
AHNAK	79026	genome.wustl.edu	37	11	62290072	62290072	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:62290072C>T	ENST00000378024.4	-	5	12091	c.11817G>A	c.(11815-11817)aaG>aaA	p.K3939K	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3939					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)				GCATGCTGATCTTGGGCATTT	0.502																																						dbGAP											0													231.0	244.0	240.0					11																	62290072		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			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.11817G>A	11.37:g.62290072C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A1A586	Silent	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.K3939	ENST00000378024.4	37	c.11817	CCDS31584.1	11																																																																																			AHNAK	-	NULL	ENSG00000124942		0.502	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	160	0.00	0	C	NM_024060		62290072	62290072	-1	no_errors	ENST00000378024	ensembl	human	known	69_37n	silent	160	18.37	36	SNP	1.000	T
AHNAK	79026	genome.wustl.edu	37	11	62296327	62296327	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:62296327C>T	ENST00000378024.4	-	5	5836	c.5562G>A	c.(5560-5562)aaG>aaA	p.K1854K	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1854					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)	p.K1854N(1)		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)				GCATGGAGATCTTGGGGGCCT	0.522																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											193.0	204.0	201.0					11																	62296327		2202	4297	6499	-	-	-	SO:0001819	synonymous_variant	0			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.5562G>A	11.37:g.62296327C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A1A586	Silent	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.K1854	ENST00000378024.4	37	c.5562	CCDS31584.1	11																																																																																			AHNAK	-	NULL	ENSG00000124942		0.522	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	172	0.00	0	C	NM_024060		62296327	62296327	-1	no_errors	ENST00000378024	ensembl	human	known	69_37n	silent	199	21.65	55	SNP	1.000	T
AHNAK2	113146	genome.wustl.edu	37	14	105410730	105410730	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:105410730G>A	ENST00000333244.5	-	7	11177	c.11058C>T	c.(11056-11058)ctC>ctT	p.L3686L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3686						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)			GCTGAATGCTGAGGTCAGTGG	0.637																																						dbGAP											0													125.0	132.0	130.0					14																	105410730		1919	4118	6037	-	-	-	SO:0001819	synonymous_variant	0			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.11058C>T	14.37:g.105410730G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.L3686	ENST00000333244.5	37	c.11058	CCDS45177.1	14																																																																																			AHNAK2	-	NULL	ENSG00000185567		0.637	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	93	0.00	0	G	NM_138420		105410730	105410730	-1	no_errors	ENST00000333244	ensembl	human	known	69_37n	silent	70	22.22	20	SNP	0.000	A
AHNAK2	113146	genome.wustl.edu	37	14	105412781	105412781	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:105412781C>T	ENST00000333244.5	-	7	9126	c.9007G>A	c.(9007-9009)Gtg>Atg	p.V3003M	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3003						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)			GGCGCAGACACATCCACCGAG	0.587																																						dbGAP											0													249.0	261.0	257.0					14																	105412781		2017	4156	6173	-	-	-	SO:0001583	missense	0			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.9007G>A	14.37:g.105412781C>T	ENSP00000353114:p.Val3003Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.V3003M	ENST00000333244.5	37	c.9007	CCDS45177.1	14	.	.	.	.	.	.	.	.	.	.	c	12.28	1.890222	0.33348	.	.	ENSG00000185567	ENST00000333244	T	0.01397	4.94	4.35	2.51	0.30379	.	.	.	.	.	T	0.03695	0.0105	M	0.84433	2.695	0.09310	N	1	P	0.40332	0.713	B	0.43575	0.424	T	0.27400	-1.0075	9	0.36615	T	0.2	.	6.7134	0.23290	0.0:0.7757:0.0:0.2243	.	3003	Q8IVF2	AHNK2_HUMAN	M	3003	ENSP00000353114:V3003M	ENSP00000353114:V3003M	V	-	1	0	AHNAK2	104483826	.	.	0.002000	0.10522	0.007000	0.05969	.	.	0.322000	0.23283	0.485000	0.47835	GTG	AHNAK2	-	NULL	ENSG00000185567		0.587	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	142	0.00	0	C	NM_138420		105412781	105412781	-1	no_errors	ENST00000333244	ensembl	human	known	69_37n	missense	80	41.30	57	SNP	0.005	T
AIFM2	84883	genome.wustl.edu	37	10	71874793	71874793	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:71874793C>T	ENST00000307864.1	-	8	1066	c.853G>A	c.(853-855)Gac>Aac	p.D285N	AIFM2_ENST00000373248.1_Missense_Mutation_p.D285N|AIFM2_ENST00000482166.1_5'UTR	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 2	285					apoptotic mitochondrial changes (GO:0008637)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						TCGGCACAGTCACCAATGGCG	0.597																																						dbGAP											0													95.0	66.0	76.0					10																	71874793		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK027403	CCDS7297.1	10q22.2	2006-11-16	2006-11-16	2006-11-16	ENSG00000042286	ENSG00000042286			21411	protein-coding gene	gene with protein product		605159	"""apoptosis-inducing factor (AIF)-like mitochondrion-associated inducer of death"""	AMID		12135761, 11980907, 15958387	Standard	NM_001198696		Approved	FLJ14497, PRG3	uc001jqp.2	Q9BRQ8	OTTHUMG00000018398	ENST00000307864.1:c.853G>A	10.37:g.71874793C>T	ENSP00000312370:p.Asp285Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXI0|Q63Z39	Missense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Pyridine_nuc-diS_OxRdtase_2,prints_Rng_hydrolase-like	p.D285N	ENST00000307864.1	37	c.853	CCDS7297.1	10	.	.	.	.	.	.	.	.	.	.	C	23.1	4.378554	0.82682	.	.	ENSG00000042286	ENST00000373248;ENST00000307864;ENST00000395039	T;T	0.75704	-0.96;-0.96	5.93	5.93	0.95920	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.89976	0.6871	M	0.93720	3.45	0.80722	D	1	D	0.64830	0.994	D	0.75020	0.985	D	0.91778	0.5433	10	0.87932	D	0	-59.8458	18.1421	0.89643	0.0:1.0:0.0:0.0	.	285	Q9BRQ8	AIFM2_HUMAN	N	285;285;248	ENSP00000362345:D285N;ENSP00000312370:D285N	ENSP00000312370:D285N	D	-	1	0	AIFM2	71544799	1.000000	0.71417	0.970000	0.41538	0.078000	0.17371	7.167000	0.77562	2.826000	0.97356	0.655000	0.94253	GAC	AIFM2	-	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Pyridine_nuc-diS_OxRdtase_2,prints_Rng_hydrolase-like	ENSG00000042286		0.597	AIFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIFM2	HGNC	protein_coding	OTTHUMT00000048487.1	32	0.00	0	C	NM_032797		71874793	71874793	-1	no_errors	ENST00000307864	ensembl	human	known	69_37n	missense	22	42.11	16	SNP	1.000	T
AJAP1	55966	genome.wustl.edu	37	1	4832432	4832432	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:4832432C>G	ENST00000378191.4	+	4	1391	c.1010C>G	c.(1009-1011)tCg>tGg	p.S337W	AJAP1_ENST00000378190.3_Missense_Mutation_p.S337W	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	337	Targeting signals.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		GACTTCCCCTCGGCCCGGGTG	0.612																																						dbGAP											0													80.0	66.0	71.0					1																	4832432		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"""transmembrane protein SHREW1"""	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.1010C>G	1.37:g.4832432C>G	ENSP00000367433:p.Ser337Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9Y229	Missense_Mutation	SNP	NULL	p.S337W	ENST00000378191.4	37	c.1010	CCDS54.1	1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.355503	0.82243	.	.	ENSG00000196581	ENST00000378190;ENST00000378191	T;T	0.42900	0.96;0.96	5.12	5.12	0.69794	.	0.118039	0.64402	D	0.000019	T	0.30885	0.0779	N	0.08118	0	0.53688	D	0.999974	P	0.47106	0.89	P	0.44447	0.45	T	0.37384	-0.9708	10	0.87932	D	0	-8.049	17.1126	0.86680	0.0:1.0:0.0:0.0	.	337	Q9UKB5	AJAP1_HUMAN	W	337	ENSP00000367432:S337W;ENSP00000367433:S337W	ENSP00000367432:S337W	S	+	2	0	AJAP1	4732292	0.986000	0.35501	0.323000	0.25347	0.996000	0.88848	5.423000	0.66458	2.380000	0.81148	0.561000	0.74099	TCG	AJAP1	-	NULL	ENSG00000196581		0.612	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	AJAP1	HGNC	protein_coding	OTTHUMT00000001542.3	46	0.00	0	C	NM_018836		4832432	4832432	+1	no_errors	ENST00000378190	ensembl	human	known	69_37n	missense	30	25.00	10	SNP	0.980	G
AK7	122481	genome.wustl.edu	37	14	96939029	96939029	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:96939029G>C	ENST00000267584.4	+	14	1536	c.1492G>C	c.(1492-1494)Gat>Cat	p.D498H		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	498	Adenylate kinase.|Poly-Glu.				axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		CTTAGAGGAAGATGAGGAGGA	0.303																																						dbGAP											0													72.0	74.0	74.0					14																	96939029		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"""Adenylate kinases"""	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.1492G>C	14.37:g.96939029G>C	ENSP00000267584:p.Asp498His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IYP6	Missense_Mutation	SNP	pfam_Dpy-30_motif,pfam_Adenylate_kin	p.D498H	ENST00000267584.4	37	c.1492	CCDS9945.1	14	.	.	.	.	.	.	.	.	.	.	G	18.03	3.532687	0.64972	.	.	ENSG00000140057	ENST00000267584	D	0.92805	-3.11	5.46	5.46	0.80206	.	0.511959	0.22547	N	0.058643	D	0.94135	0.8119	L	0.46157	1.445	0.80722	D	1	P	0.50156	0.932	P	0.59761	0.863	D	0.94294	0.7531	10	0.62326	D	0.03	-16.2314	18.8997	0.92437	0.0:0.0:1.0:0.0	.	498	Q96M32	KAD7_HUMAN	H	498	ENSP00000267584:D498H	ENSP00000267584:D498H	D	+	1	0	AK7	96008782	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	3.503000	0.53340	2.562000	0.86427	0.591000	0.81541	GAT	AK7	-	pfam_Adenylate_kin	ENSG00000140057		0.303	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AK7	HGNC	protein_coding	OTTHUMT00000413340.1	116	0.00	0	G			96939029	96939029	+1	no_errors	ENST00000267584	ensembl	human	known	69_37n	missense	95	20.83	25	SNP	1.000	C
AKAP11	11215	genome.wustl.edu	37	13	42873541	42873541	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr13:42873541C>T	ENST00000025301.2	+	8	834	c.659C>T	c.(658-660)tCc>tTc	p.S220F		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	220					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		GATGCTGCTTCCCAGACGGTT	0.378																																						dbGAP											0													67.0	65.0	66.0					13																	42873541		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	369	protein-coding gene	gene with protein product	"""AKAP 220"", ""A-kinase anchoring protein, 220kDa"", ""protein kinase A anchoring protein 11"", ""protein phosphatase 1, regulatory subunit 44"""	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.659C>T	13.37:g.42873541C>T	ENSP00000025301:p.Ser220Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	O75124|Q9NUK7	Missense_Mutation	SNP	NULL	p.S220F	ENST00000025301.2	37	c.659	CCDS9383.1	13	.	.	.	.	.	.	.	.	.	.	C	15.90	2.969623	0.53614	.	.	ENSG00000023516	ENST00000025301	T	0.43294	0.95	5.67	5.67	0.87782	.	0.148840	0.46758	D	0.000266	T	0.63010	0.2475	M	0.62723	1.935	0.58432	D	0.999995	D	0.63046	0.992	D	0.63877	0.919	T	0.63453	-0.6634	10	0.87932	D	0	.	20.1421	0.98061	0.0:1.0:0.0:0.0	.	220	Q9UKA4	AKA11_HUMAN	F	220	ENSP00000025301:S220F	ENSP00000025301:S220F	S	+	2	0	AKAP11	41771541	1.000000	0.71417	1.000000	0.80357	0.016000	0.09150	3.980000	0.56895	2.836000	0.97738	0.655000	0.94253	TCC	AKAP11	-	NULL	ENSG00000023516		0.378	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP11	HGNC	protein_coding	OTTHUMT00000044700.2	70	0.00	0	C	NM_016248		42873541	42873541	+1	no_errors	ENST00000025301	ensembl	human	known	69_37n	missense	39	32.76	19	SNP	1.000	T
AKAP11	11215	genome.wustl.edu	37	13	42875259	42875259	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr13:42875259C>A	ENST00000025301.2	+	8	2552	c.2377C>A	c.(2377-2379)Cat>Aat	p.H793N		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	793					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TCTCCCATATCATATTTCATC	0.423																																						dbGAP											0													143.0	128.0	133.0					13																	42875259		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	369	protein-coding gene	gene with protein product	"""AKAP 220"", ""A-kinase anchoring protein, 220kDa"", ""protein kinase A anchoring protein 11"", ""protein phosphatase 1, regulatory subunit 44"""	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.2377C>A	13.37:g.42875259C>A	ENSP00000025301:p.His793Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O75124|Q9NUK7	Missense_Mutation	SNP	NULL	p.H793N	ENST00000025301.2	37	c.2377	CCDS9383.1	13	.	.	.	.	.	.	.	.	.	.	C	6.676	0.493344	0.12702	.	.	ENSG00000023516	ENST00000025301	T	0.14144	2.53	5.75	4.02	0.46733	.	0.238787	0.34025	N	0.004326	T	0.13072	0.0317	L	0.47716	1.5	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.16188	-1.0411	10	0.35671	T	0.21	.	11.1463	0.48432	0.2601:0.6147:0.1252:0.0	.	793	Q9UKA4	AKA11_HUMAN	N	793	ENSP00000025301:H793N	ENSP00000025301:H793N	H	+	1	0	AKAP11	41773259	0.771000	0.28555	0.208000	0.23602	0.684000	0.39900	1.944000	0.40263	0.897000	0.36392	-0.152000	0.13540	CAT	AKAP11	-	NULL	ENSG00000023516		0.423	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP11	HGNC	protein_coding	OTTHUMT00000044700.2	55	0.00	0	C	NM_016248		42875259	42875259	+1	no_errors	ENST00000025301	ensembl	human	known	69_37n	missense	43	24.56	14	SNP	0.056	A
AKAP11	11215	genome.wustl.edu	37	13	42875586	42875586	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr13:42875586G>A	ENST00000025301.2	+	8	2879	c.2704G>A	c.(2704-2706)Gaa>Aaa	p.E902K		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	902					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		AATGGTTGATGAACGTACAGA	0.373																																						dbGAP											0													36.0	36.0	36.0					13																	42875586		2203	4299	6502	-	-	-	SO:0001583	missense	0			AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	369	protein-coding gene	gene with protein product	"""AKAP 220"", ""A-kinase anchoring protein, 220kDa"", ""protein kinase A anchoring protein 11"", ""protein phosphatase 1, regulatory subunit 44"""	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.2704G>A	13.37:g.42875586G>A	ENSP00000025301:p.Glu902Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O75124|Q9NUK7	Missense_Mutation	SNP	NULL	p.E902K	ENST00000025301.2	37	c.2704	CCDS9383.1	13	.	.	.	.	.	.	.	.	.	.	G	7.933	0.741066	0.15642	.	.	ENSG00000023516	ENST00000025301	T	0.15487	2.42	5.9	3.23	0.37069	.	0.581878	0.17089	N	0.187450	T	0.12860	0.0312	L	0.40543	1.245	0.09310	N	1	B	0.15141	0.012	B	0.12156	0.007	T	0.25676	-1.0125	10	0.36615	T	0.2	.	5.7542	0.18164	0.2824:0.1286:0.5891:0.0	.	902	Q9UKA4	AKA11_HUMAN	K	902	ENSP00000025301:E902K	ENSP00000025301:E902K	E	+	1	0	AKAP11	41773586	0.996000	0.38824	0.003000	0.11579	0.114000	0.19823	3.204000	0.51082	0.394000	0.25230	0.655000	0.94253	GAA	AKAP11	-	NULL	ENSG00000023516		0.373	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP11	HGNC	protein_coding	OTTHUMT00000044700.2	20	0.00	0	G	NM_016248		42875586	42875586	+1	no_errors	ENST00000025301	ensembl	human	known	69_37n	missense	20	16.67	4	SNP	0.004	A
AKAP17A	8227	genome.wustl.edu	37	X	1718126	1718126	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:1718126G>C	ENST00000313871.3	+	4	1149	c.953G>C	c.(952-954)aGa>aCa	p.R318T	AKAP17A_ENST00000381261.3_Missense_Mutation_p.R318T	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	318					B cell activation (GO:0042113)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase A binding (GO:0051018)			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						GAGAGGAAAAGAGAAGAGAAG	0.587																																						dbGAP											0													81.0	87.0	85.0					X																	1718126		2203	4296	6499	-	-	-	SO:0001583	missense	0			L03426	CCDS14116.1	Xp22.33 and Yp11.32	2010-09-08	2010-09-08	2010-09-08	ENSG00000197976	ENSG00000197976		"""Pseudoautosomal regions / PAR1"", ""A-kinase anchor proteins"""	18783	protein-coding gene	gene with protein product		312095, 465000	"""chromosome X and Y open reading frame 3"", ""splicing factor, arginine/serine-rich 17A"""	CXYorf3, SFRS17A		9736779, 1438229, 19840947	Standard	NR_027383		Approved	XE7, XE7Y, DXYS155E, MGC39904, 721P, CCDC133	uc004cqa.3	Q02040	OTTHUMG00000021063	ENST00000313871.3:c.953G>C	X.37:g.1718126G>C	ENSP00000324827:p.Arg318Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q02832|Q2TB98|Q5JQ74|Q5JQ76|Q8N6U9	Missense_Mutation	SNP	NULL	p.R318T	ENST00000313871.3	37	c.953	CCDS14116.1	X	.	.	.	.	.	.	.	.	.	.	g	2.727	-0.265269	0.05754	.	.	ENSG00000197976	ENST00000313871;ENST00000381261	T;T	0.30981	1.51;3.29	1.58	0.585	0.17428	.	0.181621	0.35291	U	0.003315	T	0.37073	0.0990	.	.	.	0.09310	N	1	B;P	0.48694	0.159;0.914	B;P	0.52758	0.107;0.708	T	0.23297	-1.0192	9	0.49607	T	0.09	.	8.3748	0.32436	0.1392:0.0:0.8608:0.0	.	318;318	Q02040-3;Q02040	.;AK17A_HUMAN	T	318	ENSP00000324827:R318T;ENSP00000370660:R318T	ENSP00000324827:R318T	R	+	2	0	AKAP17A	1678126	0.991000	0.36638	0.001000	0.08648	0.339000	0.28857	3.457000	0.53007	-0.445000	0.07159	0.100000	0.15512	AGA	AKAP17A	-	NULL	ENSG00000197976		0.587	AKAP17A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP17A	HGNC	protein_coding	OTTHUMT00000055609.2	80	0.00	0	G	NM_005088		1718126	1718126	+1	no_errors	ENST00000313871	ensembl	human	known	69_37n	missense	58	44.23	46	SNP	0.738	C
AKAP9	10142	genome.wustl.edu	37	7	91691662	91691662	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:91691662C>T	ENST00000359028.2	+	25	6100	c.5875C>T	c.(5875-5877)Cgt>Tgt	p.R1959C	AKAP9_ENST00000491695.1_3'UTR|AKAP9_ENST00000358100.2_Missense_Mutation_p.R1959C|AKAP9_ENST00000356239.3_Missense_Mutation_p.R1947C			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1959	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TATAATAGATCGTCTTGAGCA	0.358			T	BRAF	papillary thyroid																																	dbGAP		Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0													128.0	138.0	135.0					7																	91691662		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.5875C>T	7.37:g.91691662C>T	ENSP00000351922:p.Arg1959Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB-like	p.R1959C	ENST00000359028.2	37	c.5875		7	.	.	.	.	.	.	.	.	.	.	C	17.97	3.518742	0.64634	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000265737	T;T;T	0.03553	3.9;3.9;3.89	5.41	5.41	0.78517	.	0.350509	0.21088	N	0.080373	T	0.16257	0.0391	L	0.59436	1.845	0.34774	D	0.734061	D;D;D	0.89917	0.999;1.0;0.999	P;D;P	0.67382	0.791;0.951;0.897	T	0.00989	-1.1489	10	0.72032	D	0.01	.	19.5538	0.95333	0.0:1.0:0.0:0.0	.	1959;1947;1947	Q99996;Q99996-2;Q99996-3	AKAP9_HUMAN;.;.	C	1947;1959;1959;1959;162	ENSP00000348573:R1947C;ENSP00000351922:R1959C;ENSP00000350813:R1959C	ENSP00000265737:R162C	R	+	1	0	AKAP9	91529598	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.015000	0.57152	2.688000	0.91661	0.655000	0.94253	CGT	AKAP9	-	NULL	ENSG00000127914		0.358	AKAP9-202	KNOWN	basic	protein_coding	AKAP9	HGNC	protein_coding		87	0.00	0	C	NM_005751		91691662	91691662	+1	no_errors	ENST00000359028	ensembl	human	known	69_37n	missense	69	25.00	23	SNP	1.000	T
AKAP9	10142	genome.wustl.edu	37	7	91737878	91737878	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:91737878G>A	ENST00000359028.2	+	49	11854	c.11629G>A	c.(11629-11631)Gac>Aac	p.D3877N	AKAP9_ENST00000358100.2_Missense_Mutation_p.D3823N|AKAP9_ENST00000356239.3_Missense_Mutation_p.D3873N			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3877					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTACGATCCTGACAGAGCCCT	0.433			T	BRAF	papillary thyroid																																	dbGAP		Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0													107.0	100.0	102.0					7																	91737878		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.11629G>A	7.37:g.91737878G>A	ENSP00000351922:p.Asp3877Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB-like	p.D3877N	ENST00000359028.2	37	c.11629		7	.	.	.	.	.	.	.	.	.	.	G	23.9	4.468065	0.84533	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000394534	T;T;T;T	0.04809	3.66;3.65;3.73;3.55	5.29	5.29	0.74685	.	0.000000	0.39544	N	0.001321	T	0.16300	0.0392	L	0.43152	1.355	0.58432	D	0.999992	D;D;D;D;D	0.89917	0.998;1.0;0.999;1.0;1.0	P;D;D;D;D	0.68943	0.896;0.961;0.914;0.961;0.961	T	0.00131	-1.2013	10	0.72032	D	0.01	.	19.1301	0.93402	0.0:0.0:1.0:0.0	.	1148;3877;3877;3873;3865	B3KQF9;Q99996-6;Q99996;Q99996-2;Q99996-3	.;.;AKAP9_HUMAN;.;.	N	3873;3877;3823;1719	ENSP00000348573:D3873N;ENSP00000351922:D3877N;ENSP00000350813:D3823N;ENSP00000378042:D1719N	ENSP00000348573:D3873N	D	+	1	0	AKAP9	91575814	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.183000	0.89700	2.767000	0.95098	0.655000	0.94253	GAC	AKAP9	-	NULL	ENSG00000127914		0.433	AKAP9-202	KNOWN	basic	protein_coding	AKAP9	HGNC	protein_coding		58	0.00	0	G	NM_005751		91737878	91737878	+1	no_errors	ENST00000359028	ensembl	human	known	69_37n	missense	58	25.64	20	SNP	1.000	A
AK9	221264	genome.wustl.edu	37	6	109835625	109835625	+	Missense_Mutation	SNP	T	T	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:109835625T>G	ENST00000424296.2	-	32	4157	c.4081A>C	c.(4081-4083)Aca>Cca	p.T1361P		NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	1361					ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										GGCTTGATTGTCTCTCCTTCA	0.294																																						dbGAP											0													99.0	83.0	88.0					6																	109835625		692	1591	2283	-	-	-	SO:0001583	missense	0			AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.4081A>C	6.37:g.109835625T>G	ENSP00000410186:p.Thr1361Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Missense_Mutation	SNP	pfam_Adenylate_kin,pfam_YHS,smart_AAA+_ATPase	p.T1361P	ENST00000424296.2	37	c.4081	CCDS55048.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.2|20.2	3.949216|3.949216	0.73787|0.73787	.|.	.|.	ENSG00000155085|ENSG00000155085	ENST00000470564|ENST00000424296	.|T	.|0.64438	.|-0.1	5.28|5.28	4.14|4.14	0.48551|0.48551	.|.	.|.	.|.	.|.	.|.	T|T	0.26268|0.26268	0.0641|0.0641	N|N	0.22421|0.22421	0.69|0.69	0.19775|0.19775	N|N	0.99995|0.99995	.|P	.|0.49961	.|0.93	.|B	.|0.41571	.|0.36	T|T	0.02546|0.02546	-1.1143|-1.1143	5|8	.|.	.|.	.|.	.|.	5.0643|5.0643	0.14574|0.14574	0.0:0.3191:0.0:0.6809|0.0:0.3191:0.0:0.6809	.|.	.|1361	.|Q5TCS8	.|AKD1_HUMAN	S|P	198|1361	.|ENSP00000410186:T1361P	.|.	R|T	-|-	3|1	2|0	AKD1|AKD1	109942318|109942318	0.700000|0.700000	0.27796|0.27796	0.673000|0.673000	0.29887|0.29887	0.950000|0.950000	0.60333|0.60333	2.914000|2.914000	0.48797|0.48797	1.994000|1.994000	0.58287|0.58287	0.528000|0.528000	0.53228|0.53228	AGA|ACA	AKD1	-	NULL	ENSG00000155085		0.294	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	AKD1	HGNC	protein_coding		142	0.00	0	T	NM_001145128		109835625	109835625	-1	no_errors	ENST00000424296	ensembl	human	known	69_37n	missense	80	22.33	23	SNP	0.028	G
AK9	221264	genome.wustl.edu	37	6	109871307	109871307	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:109871307C>T	ENST00000424296.2	-	25	3026	c.2950G>A	c.(2950-2952)Gaa>Aaa	p.E984K	AK9_ENST00000341338.6_Missense_Mutation_p.E63K|AK9_ENST00000355283.1_Missense_Mutation_p.E63K	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	984					ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										AATGGTTCTTCATGAGCCACA	0.398																																						dbGAP											0													115.0	108.0	110.0					6																	109871307		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.2950G>A	6.37:g.109871307C>T	ENSP00000410186:p.Glu984Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Missense_Mutation	SNP	pfam_Adenylate_kin,pfam_YHS,smart_AAA+_ATPase	p.E984K	ENST00000424296.2	37	c.2950	CCDS55048.1	6	.	.	.	.	.	.	.	.	.	.	C	1.647	-0.514909	0.04200	.	.	ENSG00000155085	ENST00000424296;ENST00000355283;ENST00000341338	T;T;T	0.62498	0.02;0.07;0.03	5.66	-5.05	0.02955	.	1.237660	0.05636	N	0.582611	T	0.09730	0.0239	N	0.00926	-1.1	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.16335	-1.0406	9	.	.	.	.	11.7003	0.51567	0.097:0.1843:0.0:0.7188	.	63;984	Q5TCS8-5;Q5TCS8	.;AKD1_HUMAN	K	984;63;63	ENSP00000410186:E984K;ENSP00000347431:E63K;ENSP00000344637:E63K	.	E	-	1	0	AKD1	109978000	0.000000	0.05858	0.000000	0.03702	0.060000	0.15804	-0.096000	0.11059	-1.756000	0.01318	-0.983000	0.02560	GAA	AKD1	-	NULL	ENSG00000155085		0.398	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	AKD1	HGNC	protein_coding		88	0.00	0	C	NM_001145128		109871307	109871307	-1	no_errors	ENST00000424296	ensembl	human	known	69_37n	missense	86	17.31	18	SNP	0.001	T
AK9	221264	genome.wustl.edu	37	6	109940391	109940391	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:109940391C>T	ENST00000424296.2	-	13	1379	c.1303G>A	c.(1303-1305)Gaa>Aaa	p.E435K	AK9_ENST00000341338.6_5'UTR|AK9_ENST00000368948.2_Missense_Mutation_p.E435K	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	435					ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										ACTAATGTTTCACGGGCTTTA	0.403																																						dbGAP											0													209.0	157.0	173.0					6																	109940391		692	1591	2283	-	-	-	SO:0001583	missense	0			AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.1303G>A	6.37:g.109940391C>T	ENSP00000410186:p.Glu435Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Missense_Mutation	SNP	pfam_Adenylate_kin,pfam_YHS,smart_AAA+_ATPase	p.E435K	ENST00000424296.2	37	c.1303	CCDS55048.1	6	.	.	.	.	.	.	.	.	.	.	C	9.168	1.020461	0.19433	.	.	ENSG00000155085	ENST00000424296;ENST00000368948	T;T	0.65364	-0.15;1.53	4.93	3.13	0.36017	.	0.371785	0.27917	N	0.017326	T	0.21427	0.0516	N	0.17474	0.49	0.48452	D	0.999659	B	0.23806	0.091	B	0.20184	0.028	T	0.07654	-1.0761	9	.	.	.	-8.2232	6.2893	0.21051	0.0:0.7127:0.1889:0.0985	.	435	Q5TCS8	AKD1_HUMAN	K	435	ENSP00000410186:E435K;ENSP00000357944:E435K	.	E	-	1	0	AKD1	110047084	0.819000	0.29175	0.847000	0.33407	0.439000	0.31926	1.292000	0.33342	1.421000	0.47157	0.650000	0.86243	GAA	AKD1	-	NULL	ENSG00000155085		0.403	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	AKD1	HGNC	protein_coding		155	0.00	0	C	NM_001145128		109940391	109940391	-1	no_errors	ENST00000424296	ensembl	human	known	69_37n	missense	89	23.93	28	SNP	0.558	T
AKNA	80709	genome.wustl.edu	37	9	117113142	117113142	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:117113142C>T	ENST00000307564.4	-	15	3379	c.3218G>A	c.(3217-3219)cGa>cAa	p.R1073Q	AKNA_ENST00000374079.4_5'Flank|AKNA_ENST00000374088.3_Missense_Mutation_p.R1073Q|AKNA_ENST00000223791.3_Missense_Mutation_p.R533Q|AKNA_ENST00000374075.5_Missense_Mutation_p.R992Q	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1073					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						AACTTACTCTCGCCCTGCCCT	0.612																																						dbGAP											0													89.0	86.0	87.0					9																	117113142		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.3218G>A	9.37:g.117113142C>T	ENSP00000303769:p.Arg1073Gln	Somatic		WXS	Illumina GAIIx	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.R1073Q	ENST00000307564.4	37	c.3218	CCDS6805.1	9	.	.	.	.	.	.	.	.	.	.	C	16.84	3.233608	0.58886	.	.	ENSG00000106948	ENST00000307564;ENST00000320310;ENST00000374088;ENST00000223791;ENST00000374075	T;T;T;T	0.21734	2.24;2.24;1.99;2.23	4.11	4.11	0.48088	.	0.000000	0.42964	D	0.000622	T	0.39572	0.1083	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	T	0.14699	-1.0463	10	0.87932	D	0	.	12.1648	0.54123	0.0:1.0:0.0:0.0	.	1073;992	Q7Z591;Q7Z591-2	AKNA_HUMAN;.	Q	1073;85;1073;533;992	ENSP00000303769:R1073Q;ENSP00000363201:R1073Q;ENSP00000223791:R533Q;ENSP00000363188:R992Q	ENSP00000223791:R533Q	R	-	2	0	AKNA	116152963	1.000000	0.71417	0.998000	0.56505	0.178000	0.23041	3.018000	0.49625	2.601000	0.87937	0.563000	0.77884	CGA	AKNA	-	NULL	ENSG00000106948		0.612	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AKNA	HGNC	protein_coding	OTTHUMT00000053767.2	24	0.00	0	C	NM_030767		117113142	117113142	-1	no_errors	ENST00000307564	ensembl	human	known	69_37n	missense	26	23.53	8	SNP	0.997	T
AKNAD1	254268	genome.wustl.edu	37	1	109359767	109359767	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:109359767G>C	ENST00000370001.3	-	15	2550	c.2282C>G	c.(2281-2283)tCa>tGa	p.S761*	AKNAD1_ENST00000477908.1_5'UTR	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	761						cytoplasm (GO:0005737)				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TGCAGGGTCTGAGCTGTAGGT	0.453																																						dbGAP											0													147.0	149.0	149.0					1																	109359767		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 62"""	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.2282C>G	1.37:g.109359767G>C	ENSP00000359018:p.Ser761*	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EK62|Q5T1N0|Q8N990|Q8NCN9	Nonsense_Mutation	SNP	pfam_TF_AT-hook	p.S761*	ENST00000370001.3	37	c.2282	CCDS791.2	1	.	.	.	.	.	.	.	.	.	.	G	38	7.265490	0.98175	.	.	ENSG00000162641	ENST00000370001	.	.	.	5.62	3.65	0.41850	.	1.262150	0.05899	N	0.629633	.	.	.	.	.	.	0.19300	N	0.999975	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-0.1931	8.1577	0.31178	0.0:0.1698:0.6542:0.176	.	.	.	.	X	761	.	ENSP00000359018:S761X	S	-	2	0	AKNAD1	109161290	0.003000	0.15002	0.078000	0.20375	0.022000	0.10575	1.179000	0.31993	2.805000	0.96524	0.655000	0.94253	TCA	AKNAD1	-	NULL	ENSG00000162641		0.453	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AKNAD1	HGNC	protein_coding	OTTHUMT00000030923.2	165	0.00	0	G	NM_152763		109359767	109359767	-1	no_errors	ENST00000370001	ensembl	human	known	69_37n	nonsense	137	18.45	31	SNP	0.007	C
AKNAD1	254268	genome.wustl.edu	37	1	109365776	109365776	+	Intron	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:109365776C>T	ENST00000370001.3	-	13	2436				AKNAD1_ENST00000357393.4_3'UTR|AKNAD1_ENST00000477908.1_5'Flank|AKNAD1_ENST00000369995.3_Silent_p.*762*|AKNAD1_ENST00000369994.1_Silent_p.*723*	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1							cytoplasm (GO:0005737)				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						AGTCCTTGGTCACTGCGATTT	0.453																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 62"""	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.2167+215G>A	1.37:g.109365776C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B9EK62|Q5T1N0|Q8N990|Q8NCN9	Silent	SNP	pfam_TF_AT-hook	p.*762	ENST00000370001.3	37	c.2285	CCDS791.2	1																																																																																			AKNAD1	-	NULL	ENSG00000162641		0.453	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AKNAD1	HGNC	protein_coding	OTTHUMT00000030923.2	16	0.00	0	C	NM_152763		109365776	109365776	-1	no_errors	ENST00000369995	ensembl	human	known	69_37n	silent	22	26.67	8	SNP	0.000	T
AKNAD1	254268	genome.wustl.edu	37	1	109380248	109380248	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:109380248G>C	ENST00000370001.3	-	7	1728	c.1460C>G	c.(1459-1461)tCa>tGa	p.S487*	AKNAD1_ENST00000357393.4_Nonsense_Mutation_p.S194*|AKNAD1_ENST00000369995.3_Nonsense_Mutation_p.S487*|AKNAD1_ENST00000369994.1_Nonsense_Mutation_p.S487*	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	487						cytoplasm (GO:0005737)				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						GGAAGGAGCTGAAGTATATTT	0.398																																						dbGAP											0													208.0	183.0	192.0					1																	109380248		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 62"""	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.1460C>G	1.37:g.109380248G>C	ENSP00000359018:p.Ser487*	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EK62|Q5T1N0|Q8N990|Q8NCN9	Nonsense_Mutation	SNP	pfam_TF_AT-hook	p.S487*	ENST00000370001.3	37	c.1460	CCDS791.2	1	.	.	.	.	.	.	.	.	.	.	G	13.87	2.366861	0.41902	.	.	ENSG00000162641	ENST00000370001;ENST00000357393;ENST00000369994;ENST00000369995	.	.	.	4.99	1.87	0.25490	.	0.839077	0.10195	N	0.704124	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-0.6478	3.0575	0.06189	0.2387:0.0:0.5389:0.2224	.	.	.	.	X	487;194;487;487	.	ENSP00000349968:S194X	S	-	2	0	AKNAD1	109181771	0.004000	0.15560	0.001000	0.08648	0.014000	0.08584	1.129000	0.31381	0.645000	0.30675	0.563000	0.77884	TCA	AKNAD1	-	NULL	ENSG00000162641		0.398	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AKNAD1	HGNC	protein_coding	OTTHUMT00000030923.2	142	0.00	0	G	NM_152763		109380248	109380248	-1	no_errors	ENST00000370001	ensembl	human	known	69_37n	nonsense	99	22.66	29	SNP	0.001	C
AKNAD1	254268	genome.wustl.edu	37	1	109394986	109394986	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:109394986C>A	ENST00000370001.3	-	2	569	c.301G>T	c.(301-303)Gaa>Taa	p.E101*	AKNAD1_ENST00000357393.4_Intron|AKNAD1_ENST00000369995.3_Nonsense_Mutation_p.E101*|AKNAD1_ENST00000369994.1_Nonsense_Mutation_p.E101*	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	101						cytoplasm (GO:0005737)				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						GCGTCTCCTTCATTTGCTGGA	0.408																																						dbGAP											0													108.0	106.0	107.0					1																	109394986		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 62"""	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.301G>T	1.37:g.109394986C>A	ENSP00000359018:p.Glu101*	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EK62|Q5T1N0|Q8N990|Q8NCN9	Nonsense_Mutation	SNP	pfam_TF_AT-hook	p.E101*	ENST00000370001.3	37	c.301	CCDS791.2	1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.584562	0.86748	.	.	ENSG00000162641	ENST00000370001;ENST00000369994;ENST00000369995	.	.	.	5.77	-8.8	0.00817	.	0.833121	0.10799	N	0.632898	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	-0.8199	10.1129	0.42574	0.0:0.4491:0.3125:0.2384	.	.	.	.	X	101	.	ENSP00000359011:E101X	E	-	1	0	AKNAD1	109196509	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.208000	0.09371	-1.673000	0.01462	-1.261000	0.01458	GAA	AKNAD1	-	NULL	ENSG00000162641		0.408	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AKNAD1	HGNC	protein_coding	OTTHUMT00000030923.2	85	0.00	0	C	NM_152763		109394986	109394986	-1	no_errors	ENST00000370001	ensembl	human	known	69_37n	nonsense	57	28.75	23	SNP	0.000	A
AKR1E2	83592	genome.wustl.edu	37	10	4879734	4879734	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:4879734G>A	ENST00000298375.7	+	5	614	c.543G>A	c.(541-543)ttG>ttA	p.L181L	AKR1E2_ENST00000532248.1_Silent_p.L181L|AKR1E2_ENST00000525281.1_3'UTR|AKR1E2_ENST00000334019.4_Silent_p.L181L|AKR1E2_ENST00000345253.5_Intron	NM_001040177.2	NP_001035267.1	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	181						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	1,5-anhydro-D-fructose reductase activity (GO:0050571)			NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						AGAGGCTTTTGAATAAGCCTG	0.527																																					NSCLC(43;343 1097 20371 28813 45509)	dbGAP											0													70.0	67.0	68.0					10																	4879734		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB040820	CCDS31134.1, CCDS59210.1, CCDS59209.1	10p15.2	2009-09-09	2009-09-09	2009-09-09	ENSG00000165568	ENSG00000165568		"""Aldo-keto reductases"""	23437	protein-coding gene	gene with protein product			"""aldo-keto reductase family 1, member C-like 2"""	AKRDC1, AKR1CL2			Standard	NM_001271021		Approved	MGC10612	uc001ihi.4	Q96JD6	OTTHUMG00000017577	ENST00000298375.7:c.543G>A	10.37:g.4879734G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86Z16|Q86Z17|Q86Z18|Q9BU71	Silent	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	p.L181	ENST00000298375.7	37	c.543	CCDS31134.1	10																																																																																			AKR1E2	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom	ENSG00000165568		0.527	AKR1E2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR1E2	HGNC	protein_coding	OTTHUMT00000046520.4	45	0.00	0	G	NM_031436		4879734	4879734	+1	no_errors	ENST00000298375	ensembl	human	known	69_37n	silent	19	32.14	9	SNP	0.976	A
ALAS1	211	genome.wustl.edu	37	3	52236561	52236561	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:52236561G>A	ENST00000394965.2	+	4	598	c.238G>A	c.(238-240)Gat>Aat	p.D80N	ALAS1_ENST00000484952.1_Missense_Mutation_p.D80N|ALAS1_ENST00000310271.2_Missense_Mutation_p.D80N|ALAS1_ENST00000469224.1_Missense_Mutation_p.D80N	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	80					cellular lipid metabolic process (GO:0044255)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	5-aminolevulinate synthase activity (GO:0003870)|pyridoxal phosphate binding (GO:0030170)			endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)	ACAGACTCCTGATGGATCCCA	0.522																																						dbGAP											0													73.0	73.0	73.0					3																	52236561		2203	4300	6503	-	-	-	SO:0001583	missense	0			X56351	CCDS2847.1	3p21	2004-11-18			ENSG00000023330	ENSG00000023330	2.3.1.37		396	protein-coding gene	gene with protein product		125290		ALAS3, ALAS			Standard	NM_000688		Approved		uc003dcz.2	P13196	OTTHUMG00000158108	ENST00000394965.2:c.238G>A	3.37:g.52236561G>A	ENSP00000378416:p.Asp80Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Aminotransferase_I/II,pfam_5aminolev_synth_preseq,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4pyrrol_synth_NH2levulA_synth	p.D80N	ENST00000394965.2	37	c.238	CCDS2847.1	3	.	.	.	.	.	.	.	.	.	.	G	12.40	1.927954	0.34002	.	.	ENSG00000023330	ENST00000469224;ENST00000394965;ENST00000441729;ENST00000310271;ENST00000484952	D;D;D;D	0.97575	-4.44;-4.44;-4.44;-4.44	5.09	5.09	0.68999	.	0.656003	0.14469	N	0.317687	D	0.92267	0.7547	N	0.22421	0.69	0.23620	N	0.997271	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.81820	-0.0757	10	0.16896	T	0.51	-9.7223	9.5799	0.39481	0.0958:0.0:0.9042:0.0	.	97;80	B4DVA0;P13196	.;HEM1_HUMAN	N	80	ENSP00000417719:D80N;ENSP00000378416:D80N;ENSP00000309259:D80N;ENSP00000418779:D80N	ENSP00000309259:D80N	D	+	1	0	ALAS1	52211601	.	.	0.311000	0.25182	0.961000	0.63080	.	.	2.356000	0.79943	0.655000	0.94253	GAT	ALAS1	-	NULL	ENSG00000023330		0.522	ALAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALAS1	HGNC	protein_coding	OTTHUMT00000350207.1	41	0.00	0	G			52236561	52236561	+1	no_errors	ENST00000310271	ensembl	human	known	69_37n	missense	34	27.66	13	SNP	0.520	A
ALAS2	212	genome.wustl.edu	37	X	55046763	55046763	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:55046763C>A	ENST00000330807.5	-	6	950	c.813G>T	c.(811-813)aaG>aaT	p.K271N	ALAS2_ENST00000335854.4_Missense_Mutation_p.K234N|ALAS2_ENST00000498636.1_5'UTR|ALAS2_ENST00000396198.3_Missense_Mutation_p.K258N	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	271					cellular iron ion homeostasis (GO:0006879)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|hemoglobin biosynthetic process (GO:0042541)|oxygen homeostasis (GO:0032364)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5-aminolevulinate synthase activity (GO:0003870)|coenzyme binding (GO:0050662)|glycine binding (GO:0016594)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	CTGGCAGGATCTTGGCCAAGG	0.532																																						dbGAP											0													82.0	57.0	66.0					X																	55046763		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14366.1, CCDS35303.1, CCDS43960.1	Xp11.21	2008-02-05	2008-02-04		ENSG00000158578	ENSG00000158578	2.3.1.37		397	protein-coding gene	gene with protein product	"""sideroblastic/hypochromic anemia"""	301300	"""aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)"""	ASB		1577484	Standard	NM_000032		Approved		uc004dua.4	P22557	OTTHUMG00000021641	ENST00000330807.5:c.813G>T	X.37:g.55046763C>A	ENSP00000332369:p.Lys271Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3F0|A8K6C4|Q13735|Q5JZF5|Q8N6H3	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,pfam_5aminolev_synth_preseq,pfam_Aminotrans_V/Cys_dSase,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4pyrrol_synth_NH2levulA_synth	p.K271N	ENST00000330807.5	37	c.813	CCDS14366.1	X	.	.	.	.	.	.	.	.	.	.	c	16.48	3.135473	0.56828	.	.	ENSG00000158578	ENST00000330807;ENST00000396198;ENST00000335854	D;D;D	0.95307	-3.67;-3.67;-3.67	4.56	1.8	0.24995	Aminotransferase, class I/classII (1);Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.096182	0.64402	D	0.000001	D	0.93471	0.7917	L	0.55481	1.735	0.52099	D	0.999946	P;P;P	0.41188	0.741;0.741;0.578	P;P;P	0.51550	0.673;0.673;0.673	D	0.90005	0.4117	10	0.72032	D	0.01	-4.7314	5.4035	0.16308	0.0:0.5868:0.1439:0.2693	.	234;258;271	A8K6C4;Q5JZF5;P22557	.;.;HEM0_HUMAN	N	271;258;234	ENSP00000332369:K271N;ENSP00000379501:K258N;ENSP00000337131:K234N	ENSP00000332369:K271N	K	-	3	2	ALAS2	55063488	1.000000	0.71417	0.970000	0.41538	0.848000	0.48234	0.921000	0.28718	0.041000	0.15688	0.458000	0.33432	AAG	ALAS2	-	pfam_Aminotransferase_I/II,pfam_Aminotrans_V/Cys_dSase,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4pyrrol_synth_NH2levulA_synth	ENSG00000158578		0.532	ALAS2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	ALAS2	HGNC	protein_coding	OTTHUMT00000056843.3	64	0.00	0	C	NM_000032		55046763	55046763	-1	no_errors	ENST00000330807	ensembl	human	known	69_37n	missense	68	11.69	9	SNP	1.000	A
ALAS2	212	genome.wustl.edu	37	X	55052255	55052255	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:55052255C>T	ENST00000330807.5	-	2	316	c.179G>A	c.(178-180)gGa>gAa	p.G60E	ALAS2_ENST00000335854.4_Missense_Mutation_p.G60E|ALAS2_ENST00000396198.3_Missense_Mutation_p.G84E	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	60					cellular iron ion homeostasis (GO:0006879)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|hemoglobin biosynthetic process (GO:0042541)|oxygen homeostasis (GO:0032364)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5-aminolevulinate synthase activity (GO:0003870)|coenzyme binding (GO:0050662)|glycine binding (GO:0016594)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	CTTCTTACCTCCTCCAGCCTT	0.478																																						dbGAP											0													135.0	92.0	107.0					X																	55052255		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14366.1, CCDS35303.1, CCDS43960.1	Xp11.21	2008-02-05	2008-02-04		ENSG00000158578	ENSG00000158578	2.3.1.37		397	protein-coding gene	gene with protein product	"""sideroblastic/hypochromic anemia"""	301300	"""aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)"""	ASB		1577484	Standard	NM_000032		Approved		uc004dua.4	P22557	OTTHUMG00000021641	ENST00000330807.5:c.179G>A	X.37:g.55052255C>T	ENSP00000332369:p.Gly60Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3F0|A8K6C4|Q13735|Q5JZF5|Q8N6H3	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,pfam_5aminolev_synth_preseq,pfam_Aminotrans_V/Cys_dSase,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4pyrrol_synth_NH2levulA_synth	p.G60E	ENST00000330807.5	37	c.179	CCDS14366.1	X	.	.	.	.	.	.	.	.	.	.	C	12.20	1.866016	0.32977	.	.	ENSG00000158578	ENST00000330807;ENST00000396198;ENST00000335854	D;D;D	0.96619	-4.02;-4.07;-4.07	4.06	2.24	0.28232	5-aminolevulinate synthase presequence (1);	1.265850	0.05023	N	0.473165	D	0.92234	0.7537	N	0.22421	0.69	0.32150	N	0.584409	B;B;B	0.17465	0.022;0.022;0.0	B;B;B	0.27380	0.049;0.079;0.004	D	0.84668	0.0710	10	0.24483	T	0.36	-7.3139	6.3037	0.21127	0.0:0.7433:0.0:0.2567	.	60;84;60	A8K6C4;Q5JZF5;P22557	.;.;HEM0_HUMAN	E	60;84;60	ENSP00000332369:G60E;ENSP00000379501:G84E;ENSP00000337131:G60E	ENSP00000332369:G60E	G	-	2	0	ALAS2	55068980	0.997000	0.39634	0.994000	0.49952	0.944000	0.59088	0.387000	0.20718	0.303000	0.22785	0.462000	0.41574	GGA	ALAS2	-	pfam_5aminolev_synth_preseq	ENSG00000158578		0.478	ALAS2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	ALAS2	HGNC	protein_coding	OTTHUMT00000056843.3	91	0.00	0	C	NM_000032		55052255	55052255	-1	no_errors	ENST00000330807	ensembl	human	known	69_37n	missense	73	14.12	12	SNP	0.993	T
ALDH18A1	5832	genome.wustl.edu	37	10	97402801	97402801	+	Missense_Mutation	SNP	C	C	G	rs121434582		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:97402801C>G	ENST00000371224.2	-	3	388	c.251G>C	c.(250-252)cGa>cCa	p.R84P	ALDH18A1_ENST00000371221.3_Missense_Mutation_p.R84P|ALDH18A1_ENST00000483788.1_5'UTR	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN	aldehyde dehydrogenase 18 family, member A1	84	Glutamate 5-kinase.		R -> Q (in ARCL3A; reduction of activity). {ECO:0000269|PubMed:11092761}.		cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|glutamate metabolic process (GO:0006536)|L-proline biosynthetic process (GO:0055129)|ornithine biosynthetic process (GO:0006592)|proline biosynthetic process (GO:0006561)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate 5-kinase activity (GO:0004349)|glutamate-5-semialdehyde dehydrogenase activity (GO:0004350)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)		TTCATCCCCTCGGGTCACCAC	0.532																																						dbGAP											0			GRCh37	CM002848	ALDH18A1	M	rs121434582						97.0	72.0	80.0					10																	97402801		2203	4300	6503	-	-	-	SO:0001583	missense	0			X94453	CCDS7443.1, CCDS31257.1	10q24.3-q24.6	2004-08-12	2004-08-12	2004-08-12	ENSG00000059573	ENSG00000059573		"""Aldehyde dehydrogenases"""	9722	protein-coding gene	gene with protein product		138250	"""pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase)"""	GSAS, PYCS		8921385	Standard	XM_006717933		Approved	P5CS	uc001kkz.3	P54886	OTTHUMG00000018815	ENST00000371224.2:c.251G>C	10.37:g.97402801C>G	ENSP00000360268:p.Arg84Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5Q4|B7Z350|B7Z5X8|B7ZLP1|D3DR44|O95952|Q3KQU2|Q5T566|Q5T567|Q9UM72	Missense_Mutation	SNP	pfam_Asp/Glu/Uridylate_kinase,pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,superfamily_Asp/Glu/Uridylate_kinase,pirsf_P5_carboxy_syn,prints_Glu/AcGlu_kinase,tigrfam_P5_carboxy_syn,tigrfam_G-glutamylP_reductase	p.R84P	ENST00000371224.2	37	c.251	CCDS7443.1	10	.	.	.	.	.	.	.	.	.	.	C	25.3	4.623799	0.87460	.	.	ENSG00000059573	ENST00000371224;ENST00000371221	T;T	0.72051	-0.62;-0.62	5.45	5.45	0.79879	Aspartate/glutamate/uridylate kinase (3);	0.000000	0.85682	D	0.000000	D	0.84070	0.5391	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.85512	0.1198	10	0.87932	D	0	-8.3684	17.1215	0.86702	0.0:1.0:0.0:0.0	.	84;84	P54886;P54886-2	P5CS_HUMAN;.	P	84	ENSP00000360268:R84P;ENSP00000360265:R84P	ENSP00000360265:R84P	R	-	2	0	ALDH18A1	97392791	1.000000	0.71417	1.000000	0.80357	0.739000	0.42172	7.330000	0.79181	2.706000	0.92434	0.655000	0.94253	CGA	ALDH18A1	-	pfam_Asp/Glu/Uridylate_kinase,superfamily_Asp/Glu/Uridylate_kinase,pirsf_P5_carboxy_syn,tigrfam_P5_carboxy_syn	ENSG00000059573		0.532	ALDH18A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALDH18A1	HGNC	protein_coding	OTTHUMT00000049552.1	40	0.00	0	C	NM_002860		97402801	97402801	-1	no_errors	ENST00000371224	ensembl	human	known	69_37n	missense	30	33.33	15	SNP	1.000	G
ALDH1A3	220	genome.wustl.edu	37	15	101434160	101434160	+	Splice_Site	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:101434160G>A	ENST00000329841.5	+	6	1071	c.539G>A	c.(538-540)tGg>tAg	p.W180*	ALDH1A3_ENST00000346623.6_Intron|RP11-66B24.4_ENST00000560351.1_RNA	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	180					embryonic eye morphogenesis (GO:0048048)|face development (GO:0060324)|inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|nucleus accumbens development (GO:0021768)|olfactory pit development (GO:0060166)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|positive regulation of apoptotic process (GO:0043065)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoic acid metabolic process (GO:0042573)|retinol metabolic process (GO:0042572)|righting reflex (GO:0060013)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|thyroid hormone binding (GO:0070324)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		Vitamin A(DB00162)	CTGTCGCAGTGGAACTTCCCC	0.602																																						dbGAP											0													145.0	126.0	133.0					15																	101434160		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			U07919	CCDS10389.1	15q26	2010-05-07			ENSG00000184254	ENSG00000184254	1.2.1.5	"""Aldehyde dehydrogenases"""	409	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 3"""	600463		ALDH6		7698756	Standard	XR_111558		Approved	RALDH3	uc002bwn.4	P47895	OTTHUMG00000149870	ENST00000329841.5:c.538-1G>A	15.37:g.101434160G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NT64	Nonsense_Mutation	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.W180*	ENST00000329841.5	37	c.539	CCDS10389.1	15	.	.	.	.	.	.	.	.	.	.	G	42	9.297148	0.99128	.	.	ENSG00000184254	ENST00000329841	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.8119	0.96549	0.0:0.0:1.0:0.0	.	.	.	.	X	180	.	ENSP00000332256:W180X	W	+	2	0	ALDH1A3	99251683	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.333000	0.96459	2.664000	0.90586	0.655000	0.94253	TGG	ALDH1A3	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	ENSG00000184254		0.602	ALDH1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1A3	HGNC	protein_coding	OTTHUMT00000313620.2	42	0.00	0	G		Nonsense_Mutation	101434160	101434160	+1	no_errors	ENST00000329841	ensembl	human	known	69_37n	nonsense	32	33.33	16	SNP	1.000	A
ALDH1L1	10840	genome.wustl.edu	37	3	125874322	125874322	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:125874322C>A	ENST00000393434.2	-	5	902	c.553G>T	c.(553-555)Gag>Tag	p.E185*	ALDH1L1_ENST00000455064.2_Nonsense_Mutation_p.E10*|ALDH1L1_ENST00000393431.2_Nonsense_Mutation_p.E185*|ALDH1L1_ENST00000413612.1_5'UTR|ALDH1L1_ENST00000452905.2_Intron|ALDH1L1_ENST00000472186.1_Nonsense_Mutation_p.E185*|ALDH1L1_ENST00000273450.3_Nonsense_Mutation_p.E195*	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	185	GART.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|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)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	GCTTTGCCCTCAGCGATCAGC	0.622																																						dbGAP											0													87.0	75.0	79.0					3																	125874322		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.553G>T	3.37:g.125874322C>A	ENSP00000377083:p.Glu185*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DG36|E9PBX3|Q68CS1	Nonsense_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.E185*	ENST00000393434.2	37	c.553	CCDS3034.1	3	.	.	.	.	.	.	.	.	.	.	C	37	6.226187	0.97394	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000393434;ENST00000393431;ENST00000455064	.	.	.	4.66	3.75	0.43078	.	0.186883	0.44902	D	0.000419	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	12.2324	0.54495	0.0:0.8267:0.1733:0.0	.	.	.	.	X	195;185;185;185;10	.	ENSP00000273450:E195X	E	-	1	0	ALDH1L1	127357012	0.791000	0.28800	0.100000	0.21137	0.647000	0.38526	1.822000	0.39052	1.121000	0.41925	0.467000	0.42956	GAG	ALDH1L1	-	superfamily_Formyl_transf_N,pirsf_10_FTHF_DH	ENSG00000144908		0.622	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1L1	HGNC	protein_coding	OTTHUMT00000354391.1	43	0.00	0	C	NM_012190		125874322	125874322	-1	no_errors	ENST00000393434	ensembl	human	known	69_37n	nonsense	58	10.77	7	SNP	0.897	A
ALG10B	144245	genome.wustl.edu	37	12	38714319	38714319	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:38714319G>T	ENST00000308742.4	+	3	1042	c.726G>T	c.(724-726)atG>atT	p.M242I	ALG10B_ENST00000551464.1_Intron|AC117372.1_ENST00000401168.2_RNA	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	242					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transferase activity, transferring hexosyl groups (GO:0016758)			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				CTTATTCCATGTCCTTTAAAA	0.363																																						dbGAP											0													184.0	187.0	186.0					12																	38714319		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY845858	CCDS31772.1	12q12	2013-03-04	2013-03-04		ENSG00000175548	ENSG00000175548	2.4.1.256		31088	protein-coding gene	gene with protein product	"""potassium channel regulator 1"", ""dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"""		"""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast)"""				Standard	NM_001013620		Approved	KCR1	uc001rln.4	Q5I7T1	OTTHUMG00000169298	ENST00000308742.4:c.726G>T	12.37:g.38714319G>T	ENSP00000310120:p.Met242Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPF4	Missense_Mutation	SNP	pfam_Glycosyltransferase_ALG10,pirsf_Alpha1_2_glucosyltferase_Alg10	p.M242I	ENST00000308742.4	37	c.726	CCDS31772.1	12	.	.	.	.	.	.	.	.	.	.	N	1.242	-0.621092	0.03636	.	.	ENSG00000175548	ENST00000308742	T	0.53423	0.62	3.23	3.23	0.37069	.	0.620149	0.17706	N	0.164769	T	0.24122	0.0584	N	0.04090	-0.28	0.44079	D	0.996837	B	0.06786	0.001	B	0.04013	0.001	T	0.06935	-1.0799	10	0.17832	T	0.49	.	12.7261	0.57173	0.0:0.0:1.0:0.0	.	242	Q5I7T1	AG10B_HUMAN	I	242	ENSP00000310120:M242I	ENSP00000310120:M242I	M	+	3	0	ALG10B	37000586	0.436000	0.25586	0.028000	0.17463	0.556000	0.35491	0.687000	0.25407	2.103000	0.63969	0.643000	0.83706	ATG	ALG10B	-	pfam_Glycosyltransferase_ALG10,pirsf_Alpha1_2_glucosyltferase_Alg10	ENSG00000175548		0.363	ALG10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALG10B	HGNC	protein_coding	OTTHUMT00000403349.1	262	0.38	1	G	NM_001013620		38714319	38714319	+1	no_errors	ENST00000308742	ensembl	human	known	69_37n	missense	176	28.16	69	SNP	0.598	T
ALG5	29880	genome.wustl.edu	37	13	37569679	37569679	+	Missense_Mutation	SNP	C	C	T	rs542695178		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr13:37569679C>T	ENST00000239891.3	-	2	187	c.121G>A	c.(121-123)Gaa>Aaa	p.E41K	ALG5_ENST00000443765.1_Missense_Mutation_p.E41K|ALG5_ENST00000413537.2_Missense_Mutation_p.E41K|ALG5_ENST00000496689.1_5'UTR	NM_013338.4	NP_037470.1	Q9Y673	ALG5_HUMAN	ALG5, dolichyl-phosphate beta-glucosyltransferase	41					cellular protein metabolic process (GO:0044267)|determination of left/right symmetry (GO:0007368)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	dolichyl-phosphate beta-glucosyltransferase activity (GO:0004581)|oligosaccharyl transferase activity (GO:0004576)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)		TTCTCTTCTTCATGTCGATGG	0.373																																						dbGAP											0													118.0	115.0	116.0					13																	37569679		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF088028	CCDS9361.1, CCDS45033.1	13q13.1	2013-02-22	2013-02-21		ENSG00000120697	ENSG00000120697	2.4.1.117	"""Glycosyltransferase family 2 domain containing"""	20266	protein-coding gene	gene with protein product		604565	"""asparagine-linked glycosylation 5 homolog (yeast, dolichyl-phosphate beta-glucosyltransferase)"", ""asparagine-linked glycosylation 5, dolichyl-phosphate beta-glucosyltransferase homolog (S. cerevisiae)"""			10359825	Standard	NM_013338		Approved	bA421P11.2	uc001uvy.3	Q9Y673	OTTHUMG00000016741	ENST00000239891.3:c.121G>A	13.37:g.37569679C>T	ENSP00000239891:p.Glu41Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DR37|Q5TBA6	Missense_Mutation	SNP	pfam_Glyco_trans_2	p.E41K	ENST00000239891.3	37	c.121	CCDS9361.1	13	.	.	.	.	.	.	.	.	.	.	C	12.39	1.924248	0.34002	.	.	ENSG00000120697	ENST00000443765;ENST00000239891;ENST00000413537	D;T	0.83075	-1.68;-1.11	6.17	5.17	0.71159	.	0.222402	0.52532	D	0.000072	T	0.71693	0.3370	N	0.17723	0.515	0.44771	D	0.997778	B;B	0.16166	0.016;0.009	B;B	0.17098	0.017;0.008	T	0.64643	-0.6359	10	0.15066	T	0.55	.	16.1708	0.81812	0.0:0.9257:0.0:0.0743	.	41;41	Q9Y673-2;Q9Y673	.;ALG5_HUMAN	K	41	ENSP00000239891:E41K;ENSP00000389647:E41K	ENSP00000239891:E41K	E	-	1	0	ALG5	36467679	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	3.182000	0.50910	2.941000	0.99782	0.655000	0.94253	GAA	ALG5	-	NULL	ENSG00000120697		0.373	ALG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALG5	HGNC	protein_coding	OTTHUMT00000044528.2	142	0.00	0	C	NM_013338		37569679	37569679	-1	no_errors	ENST00000239891	ensembl	human	known	69_37n	missense	85	26.72	31	SNP	1.000	T
ALKBH5	54890	genome.wustl.edu	37	17	18110154	18110154	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:18110154G>C	ENST00000399138.4	+	3	882	c.877G>C	c.(877-879)Gaa>Caa	p.E293Q	ALKBH5_ENST00000541285.1_5'UTR	NM_017758.3	NP_060228.3	Q6P6C2	ALKB5_HUMAN	AlkB family member 5, RNA demethylase	293					cell differentiation (GO:0030154)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|oxidative single-stranded RNA demethylation (GO:0035553)|response to hypoxia (GO:0001666)|spermatogenesis (GO:0007283)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|oxidative RNA demethylase activity (GO:0035515)|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)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|skin(1)	10	all_neural(463;0.228)					ACCCCGGTTGGAAACAAAGTC	0.552																																					Ovarian(166;154 1953 40235 46283 46309)	dbGAP											0													195.0	206.0	202.0					17																	18110154		1948	4135	6083	-	-	-	SO:0001583	missense	0			AK000315	CCDS42272.1	17p11.2	2014-07-23	2014-07-23	2006-02-09	ENSG00000091542	ENSG00000091542	1.14.11.-	"""Alkylation repair homologs"""	25996	protein-coding gene	gene with protein product		613303	"""oxoglutarate and iron-dependent oxygenase domain containing"", ""alkB, alkylation repair homolog 5 (E. coli)"""	OFOXD1		11997338, 24778178	Standard	NM_017758		Approved	FLJ20308	uc010cpw.3	Q6P6C2	OTTHUMG00000059397	ENST00000399138.4:c.877G>C	17.37:g.18110154G>C	ENSP00000382091:p.Glu293Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DVJ4|D3DXC6|Q9NXD6	Missense_Mutation	SNP	NULL	p.E293Q	ENST00000399138.4	37	c.877	CCDS42272.1	17	.	.	.	.	.	.	.	.	.	.	G	25.6	4.651094	0.88056	.	.	ENSG00000091542	ENST00000261650;ENST00000500385;ENST00000399138	.	.	.	5.56	5.56	0.83823	.	0.046420	0.85682	D	0.000000	T	0.44074	0.1276	N	0.14661	0.345	0.51482	D	0.999929	P	0.46512	0.879	P	0.45538	0.484	T	0.33189	-0.9878	9	0.30078	T	0.28	.	19.5182	0.95174	0.0:0.0:1.0:0.0	.	293	Q6P6C2-2	.	Q	293;282;293	.	ENSP00000261650:E293Q	E	+	1	0	ALKBH5	18050879	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.218000	0.89768	2.618000	0.88619	0.655000	0.94253	GAA	ALKBH5	-	NULL	ENSG00000091542		0.552	ALKBH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALKBH5	HGNC	protein_coding	OTTHUMT00000132069.3	63	0.00	0	G	NM_017758		18110154	18110154	+1	no_errors	ENST00000399138	ensembl	human	known	69_37n	missense	56	21.13	15	SNP	1.000	C
ALMS1	7840	genome.wustl.edu	37	2	73679608	73679608	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:73679608C>T	ENST00000264448.6	+	8	6062	c.5951C>T	c.(5950-5952)tCt>tTt	p.S1984F	ALMS1_ENST00000409009.1_Missense_Mutation_p.S1942F|ALMS1_ENST00000377715.1_Missense_Mutation_p.S1984F	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1984	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						ATAGGACTGTCTAGTTCCTAC	0.438																																						dbGAP											0													79.0	74.0	76.0					2																	73679608		1868	4102	5970	-	-	-	SO:0001583	missense	0			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.5951C>T	2.37:g.73679608C>T	ENSP00000264448:p.Ser1984Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	NULL	p.S1984F	ENST00000264448.6	37	c.5951	CCDS42697.1	2	.	.	.	.	.	.	.	.	.	.	C	11.84	1.757308	0.31137	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.16743	3.17;3.17;2.32	3.99	1.23	0.21249	.	0.724957	0.12544	N	0.459663	T	0.19604	0.0471	L	0.52573	1.65	0.09310	N	1	B;P;B	0.46784	0.14;0.884;0.082	B;P;B	0.47430	0.113;0.547;0.012	T	0.11518	-1.0584	10	0.87932	D	0	.	5.7962	0.18387	0.0:0.6618:0.0:0.3382	.	1984;1942;1984	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	F	1942;1984;1984	ENSP00000386627:S1942F;ENSP00000264448:S1984F;ENSP00000366944:S1984F	ENSP00000264448:S1984F	S	+	2	0	ALMS1	73533116	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.422000	0.21296	0.254000	0.21573	0.555000	0.69702	TCT	ALMS1	-	NULL	ENSG00000116127		0.438	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALMS1	HGNC	protein_coding	OTTHUMT00000327776.1	42	0.00	0	C	NM_015120		73679608	73679608	+1	no_errors	ENST00000264448	ensembl	human	known	69_37n	missense	36	14.29	6	SNP	0.000	T
ALMS1	7840	genome.wustl.edu	37	2	73747067	73747067	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:73747067G>A	ENST00000264448.6	+	11	9813	c.9702G>A	c.(9700-9702)caG>caA	p.Q3234Q	ALMS1_ENST00000409009.1_Silent_p.Q3192Q	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3234					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CTGGTAACCAGAAGCTACGCA	0.398																																						dbGAP											0													160.0	152.0	154.0					2																	73747067		1881	4103	5984	-	-	-	SO:0001819	synonymous_variant	0			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.9702G>A	2.37:g.73747067G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Silent	SNP	NULL	p.Q3234	ENST00000264448.6	37	c.9702	CCDS42697.1	2																																																																																			ALMS1	-	NULL	ENSG00000116127		0.398	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALMS1	HGNC	protein_coding	OTTHUMT00000327776.1	128	0.00	0	G	NM_015120		73747067	73747067	+1	no_errors	ENST00000264448	ensembl	human	known	69_37n	silent	104	21.80	29	SNP	0.000	A
ALOX12	239	genome.wustl.edu	37	17	6913149	6913149	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:6913149G>A	ENST00000251535.6	+	12	1677	c.1624G>A	c.(1624-1626)Gcc>Acc	p.A542T	AC027763.2_ENST00000399540.2_Silent_p.G21G|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000399541.2_Silent_p.G21G|AC027763.2_ENST00000575727.1_Silent_p.G21G|AC027763.2_ENST00000573939.1_Intron|AC027763.2_ENST00000574377.1_Silent_p.G33G|RNASEK_ENST00000402093.1_5'Flank|RNASEK_ENST00000548577.1_5'Flank	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	542	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				aging (GO:0007568)|arachidonic acid metabolic process (GO:0019369)|cellular component movement (GO:0006928)|cellular response to lipid (GO:0071396)|establishment of skin barrier (GO:0061436)|fatty acid oxidation (GO:0019395)|hepoxilin biosynthetic process (GO:0051122)|hepoxilin metabolic process (GO:0051121)|leukotriene A4 metabolic process (GO:1901751)|linoleic acid metabolic process (GO:0043651)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxin B4 biosynthetic process (GO:2001306)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of gene expression (GO:0010628)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|superoxide anion generation (GO:0042554)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcolemma (GO:0042383)	arachidonate 12-lipoxygenase activity (GO:0004052)|hepoxilin A3 synthase activity (GO:0051120)|hepoxilin-epoxide hydrolase activity (GO:0047977)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						CCAGCATGCCGCCATCAACCA	0.562																																						dbGAP											0													96.0	84.0	88.0					17																	6913149		2203	4300	6503	-	-	-	SO:0001583	missense	0			M35418	CCDS11084.1	17p13.1	2010-01-14			ENSG00000108839	ENSG00000108839	1.13.11.31	"""Arachidonate lipoxygenases"""	429	protein-coding gene	gene with protein product	"""platelet 12-LOX"""	152391				1570320	Standard	NM_000697		Approved	12S-LOX	uc002gdx.4	P18054	OTTHUMG00000102088	ENST00000251535.6:c.1624G>A	17.37:g.6913149G>A	ENSP00000251535:p.Ala542Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	O95569|Q6ISF8|Q9UQM4	Missense_Mutation	SNP	pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,prints_LipOase_mml,prints_LipOase_C,pfscan_LipOase_LH2	p.A542T	ENST00000251535.6	37	c.1624	CCDS11084.1	17	.	.	.	.	.	.	.	.	.	.	G	33	5.245278	0.95272	.	.	ENSG00000108839	ENST00000251535;ENST00000406228	D	0.82984	-1.67	5.28	5.28	0.74379	Lipoxygenase, C-terminal (3);	0.065513	0.64402	D	0.000015	D	0.91243	0.7240	M	0.89163	3.01	0.53005	D	0.999969	D	0.59767	0.986	P	0.59487	0.858	D	0.92613	0.6101	10	0.87932	D	0	-6.1503	16.4525	0.83996	0.0:0.0:1.0:0.0	.	542	P18054	LOX12_HUMAN	T	542;12	ENSP00000251535:A542T	ENSP00000251535:A542T	A	+	1	0	ALOX12	6853873	1.000000	0.71417	0.967000	0.41034	0.964000	0.63967	6.896000	0.75665	2.758000	0.94735	0.563000	0.77884	GCC	ALOX12	-	pfam_LipOase_C,superfamily_LipOase_C	ENSG00000108839		0.562	ALOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX12	HGNC	protein_coding	OTTHUMT00000219922.2	83	0.00	0	G			6913149	6913149	+1	no_errors	ENST00000251535	ensembl	human	known	69_37n	missense	96	26.15	34	SNP	1.000	A
ALOXE3	59344	genome.wustl.edu	37	17	8018965	8018965	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:8018965G>A	ENST00000448843.2	-	4	734	c.394C>T	c.(394-396)Cac>Tac	p.H132Y	ALOXE3_ENST00000380149.1_Missense_Mutation_p.H288Y|ALOXE3_ENST00000318227.3_Missense_Mutation_p.H264Y	NM_021628.2	NP_067641.2	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	132	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|fat cell differentiation (GO:0045444)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|sensory perception of pain (GO:0019233)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)	hepoxilin A3 synthase activity (GO:0051120)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						CGTGTCCTGTGATCCAGGAGG	0.478																																						dbGAP											0													111.0	105.0	107.0					17																	8018965		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ269499	CCDS11130.1, CCDS54084.1	17p13.1	2009-07-10			ENSG00000179148	ENSG00000179148	1.13.11.-	"""Arachidonate lipoxygenases"""	13743	protein-coding gene	gene with protein product		607206					Standard	NM_021628		Approved	eLOX3, E-LOX	uc010vuo.2	Q9BYJ1	OTTHUMG00000108179	ENST00000448843.2:c.394C>T	17.37:g.8018965G>A	ENSP00000400581:p.His132Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R981|B7Z3W0|Q3ZB74|Q9H4F2|Q9HC22	Missense_Mutation	SNP	pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_C	p.H264Y	ENST00000448843.2	37	c.790	CCDS11130.1	17	.	.	.	.	.	.	.	.	.	.	G	18.73	3.685473	0.68157	.	.	ENSG00000179148	ENST00000380149;ENST00000318227;ENST00000448843	D;D;D	0.90069	-2.61;-2.61;-2.61	5.44	5.44	0.79542	Lipoxygenase, C-terminal (2);	0.427896	0.29876	N	0.010973	D	0.87269	0.6135	M	0.61703	1.905	0.52501	D	0.999959	B;B;P	0.36495	0.105;0.413;0.556	B;B;B	0.35813	0.058;0.211;0.211	D	0.86889	0.2047	10	0.44086	T	0.13	-34.9367	14.7624	0.69614	0.0:0.0:1.0:0.0	.	264;132;132	B7Z3W0;Q9BYJ1;B3KVD2	.;LOXE3_HUMAN;.	Y	288;264;132	ENSP00000369494:H288Y;ENSP00000314879:H264Y;ENSP00000400581:H132Y	ENSP00000314879:H264Y	H	-	1	0	ALOXE3	7959690	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.634000	0.67833	2.550000	0.86006	0.462000	0.41574	CAC	ALOXE3	-	superfamily_LipOase_C	ENSG00000179148		0.478	ALOXE3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOXE3	HGNC	protein_coding	OTTHUMT00000441475.1	99	0.00	0	G			8018965	8018965	-1	no_errors	ENST00000318227	ensembl	human	known	69_37n	missense	71	23.66	22	SNP	1.000	A
ALPK2	115701	genome.wustl.edu	37	18	56202473	56202473	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr18:56202473G>A	ENST00000361673.3	-	5	5159	c.4946C>T	c.(4945-4947)tCa>tTa	p.S1649L	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1649	Poly-Ser.					nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GGTCTTCGCTGAGGAGCTAGA	0.458																																						dbGAP											0													74.0	79.0	77.0					18																	56202473		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.4946C>T	18.37:g.56202473G>A	ENSP00000354991:p.Ser1649Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like	p.S1649L	ENST00000361673.3	37	c.4946	CCDS11966.2	18	.	.	.	.	.	.	.	.	.	.	G	11.29	1.593857	0.28445	.	.	ENSG00000198796	ENST00000361673	T	0.40225	1.04	5.74	1.87	0.25490	.	11.147500	0.00166	N	0.000000	T	0.30166	0.0756	N	0.25647	0.755	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.0	T	0.13656	-1.0501	10	0.40728	T	0.16	-0.3272	1.9542	0.03373	0.2283:0.1362:0.495:0.1405	.	1644;1649	Q86TB3-2;Q86TB3	.;ALPK2_HUMAN	L	1649	ENSP00000354991:S1649L	ENSP00000354991:S1649L	S	-	2	0	ALPK2	54353453	0.002000	0.14202	0.000000	0.03702	0.003000	0.03518	0.397000	0.20883	0.048000	0.15891	0.655000	0.94253	TCA	ALPK2	-	NULL	ENSG00000198796		0.458	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK2	HGNC	protein_coding	OTTHUMT00000256126.1	45	0.00	0	G	NM_052947		56202473	56202473	-1	no_errors	ENST00000361673	ensembl	human	known	69_37n	missense	24	35.14	13	SNP	0.000	A
ALPK2	115701	genome.wustl.edu	37	18	56203456	56203456	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr18:56203456G>A	ENST00000361673.3	-	5	4176	c.3963C>T	c.(3961-3963)atC>atT	p.I1321I	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1321						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						AATGTACACTGATGGTGGGCT	0.522																																						dbGAP											0													100.0	95.0	96.0					18																	56203456		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.3963C>T	18.37:g.56203456G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZUX0|Q8NAT5|Q96L95	Silent	SNP	pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like	p.I1321	ENST00000361673.3	37	c.3963	CCDS11966.2	18																																																																																			ALPK2	-	NULL	ENSG00000198796		0.522	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK2	HGNC	protein_coding	OTTHUMT00000256126.1	81	0.00	0	G	NM_052947		56203456	56203456	-1	no_errors	ENST00000361673	ensembl	human	known	69_37n	silent	35	36.36	20	SNP	0.000	A
ALPK3	57538	genome.wustl.edu	37	15	85400440	85400440	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:85400440C>T	ENST00000258888.5	+	6	3244	c.3077C>T	c.(3076-3078)tCa>tTa	p.S1026L		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1026					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CCACAGTCATCAGGCCCAGTC	0.657																																						dbGAP											0													66.0	58.0	61.0					15																	85400440		2203	4299	6502	-	-	-	SO:0001583	missense	0			AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.3077C>T	15.37:g.85400440C>T	ENSP00000258888:p.Ser1026Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9P2L6	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like	p.S1026L	ENST00000258888.5	37	c.3077	CCDS10333.1	15	.	.	.	.	.	.	.	.	.	.	C	11.53	1.667246	0.29604	.	.	ENSG00000136383	ENST00000258888	T	0.61158	0.13	4.27	2.32	0.28847	.	2.619030	0.01613	N	0.022646	T	0.46580	0.1400	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.27971	-1.0058	10	0.38643	T	0.18	.	6.8373	0.23943	0.0:0.7661:0.0:0.2339	.	1026	Q96L96	ALPK3_HUMAN	L	1026	ENSP00000258888:S1026L	ENSP00000258888:S1026L	S	+	2	0	ALPK3	83201444	0.000000	0.05858	0.001000	0.08648	0.028000	0.11728	-0.311000	0.08124	0.764000	0.33197	0.467000	0.42956	TCA	ALPK3	-	NULL	ENSG00000136383		0.657	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK3	HGNC	protein_coding	OTTHUMT00000308997.1	42	0.00	0	C	NM_020778		85400440	85400440	+1	no_errors	ENST00000258888	ensembl	human	known	69_37n	missense	41	28.07	16	SNP	0.000	T
ALPK3	57538	genome.wustl.edu	37	15	85401522	85401522	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:85401522G>C	ENST00000258888.5	+	6	4326	c.4159G>C	c.(4159-4161)Gaa>Caa	p.E1387Q		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1387					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CACACCTGAAGAAAGGGAGAG	0.662																																						dbGAP											0													16.0	21.0	20.0					15																	85401522		2184	4287	6471	-	-	-	SO:0001583	missense	0			AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.4159G>C	15.37:g.85401522G>C	ENSP00000258888:p.Glu1387Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9P2L6	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like	p.E1387Q	ENST00000258888.5	37	c.4159	CCDS10333.1	15	.	.	.	.	.	.	.	.	.	.	g	13.66	2.304462	0.40795	.	.	ENSG00000136383	ENST00000258888	T	0.62498	0.02	5.92	5.01	0.66863	.	0.393335	0.28166	N	0.016357	T	0.70771	0.3262	M	0.65975	2.015	0.09310	N	1	D	0.63880	0.993	P	0.58391	0.838	T	0.62964	-0.6742	10	0.30854	T	0.27	-12.5011	11.0986	0.48160	0.0847:0.0:0.9153:0.0	.	1387	Q96L96	ALPK3_HUMAN	Q	1387	ENSP00000258888:E1387Q	ENSP00000258888:E1387Q	E	+	1	0	ALPK3	83202526	0.998000	0.40836	0.035000	0.18076	0.045000	0.14185	2.924000	0.48876	1.519000	0.48950	-0.144000	0.13903	GAA	ALPK3	-	NULL	ENSG00000136383		0.662	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK3	HGNC	protein_coding	OTTHUMT00000308997.1	22	0.00	0	G	NM_020778		85401522	85401522	+1	no_errors	ENST00000258888	ensembl	human	known	69_37n	missense	14	33.33	7	SNP	0.186	C
ALS2CR11	151254	genome.wustl.edu	37	2	202358579	202358579	+	Intron	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:202358579C>T	ENST00000286195.3	-	14	1626				ALS2CR11_ENST00000439802.1_Intron|ALS2CR11_ENST00000482942.1_Intron|ALS2CR11_ENST00000439140.1_Missense_Mutation_p.E829K	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11											NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						AAATCTCTCTCATCAGCTTCG	0.338																																						dbGAP											0													56.0	43.0	47.0					2																	202358579		692	1591	2283	-	-	-	SO:0001627	intron_variant	0			AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.1581+2038G>A	2.37:g.202358579C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Missense_Mutation	SNP	superfamily_C2_Ca/lipid-bd_dom_CaLB	p.E829K	ENST00000286195.3	37	c.2485	CCDS2349.1	2	.	.	.	.	.	.	.	.	.	.	C	16.16	3.044875	0.55110	.	.	ENSG00000155754	ENST00000439140	T	0.55588	0.51	5.38	2.44	0.29823	.	.	.	.	.	T	0.40839	0.1133	L	0.38175	1.15	0.09310	N	1	B	0.30851	0.297	B	0.31751	0.135	T	0.28138	-1.0053	9	0.41790	T	0.15	.	7.674	0.28476	0.0:0.7129:0.0:0.2871	.	829	E9PGG4	.	K	829	ENSP00000409937:E829K	ENSP00000409937:E829K	E	-	1	0	ALS2CR11	202066824	0.000000	0.05858	0.009000	0.14445	0.019000	0.09904	0.061000	0.14366	0.689000	0.31550	-0.345000	0.07892	GAG	ALS2CR11	-	NULL	ENSG00000155754		0.338	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ALS2CR11	HGNC	protein_coding	OTTHUMT00000256296.2	65	0.00	0	C	NM_152525		202358579	202358579	-1	no_errors	ENST00000439140	ensembl	human	novel	69_37n	missense	63	23.17	19	SNP	0.003	T
ALS2	57679	genome.wustl.edu	37	2	202569272	202569272	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:202569272C>T	ENST00000264276.6	-	32	5115	c.4743G>A	c.(4741-4743)gaG>gaA	p.E1581E	ALS2_ENST00000457679.2_3'UTR	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	1581	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				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						TCTGAGAGATCTCCTCAAAAG	0.423																																						dbGAP											0													121.0	114.0	116.0					2																	202569272		1893	4114	6007	-	-	-	SO:0001819	synonymous_variant	0			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.4743G>A	2.37:g.202569272C>T		Somatic		WXS	Illumina GAIIx	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,prints_Reg_chr_condens,pfscan_VPS9,pfscan_Reg_chr_condens,pfscan_DH-domain	p.E1581	ENST00000264276.6	37	c.4743	CCDS42800.1	2																																																																																			ALS2	-	pfam_VPS9,pfscan_VPS9	ENSG00000003393		0.423	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALS2	HGNC	protein_coding	OTTHUMT00000335562.3	122	0.00	0	C	NM_020919		202569272	202569272	-1	no_errors	ENST00000264276	ensembl	human	known	69_37n	silent	98	21.60	27	SNP	1.000	T
CARF	79800	genome.wustl.edu	37	2	203825996	203825996	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:203825996G>C	ENST00000402905.3	+	8	1000	c.679G>C	c.(679-681)Gag>Cag	p.E227Q	CARF_ENST00000545253.1_Missense_Mutation_p.E139Q|WDR12_ENST00000477723.1_Intron|CARF_ENST00000320443.8_Missense_Mutation_p.E227Q|CARF_ENST00000444724.1_Missense_Mutation_p.E227Q|CARF_ENST00000428585.1_Missense_Mutation_p.E151Q|CARF_ENST00000434998.1_Missense_Mutation_p.E125Q|CARF_ENST00000545262.1_Missense_Mutation_p.E151Q|CARF_ENST00000438828.2_Missense_Mutation_p.E227Q|CARF_ENST00000414439.1_Missense_Mutation_p.E125Q|CARF_ENST00000456821.2_Intron|CARF_ENST00000471271.1_Intron	NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1	NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1	Q8N187	CARTF_HUMAN	calcium responsive transcription factor	227					cellular response to calcium ion (GO:0071277)|cellular response to potassium ion (GO:0035865)|positive regulation of transcription from RNA polymerase II promoter in response to calcium ion (GO:0061400)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	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 positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CTGTGTAAGTGAGACTGAATT	0.413																																						dbGAP											0													87.0	82.0	84.0					2																	203825996		1882	4122	6004	-	-	-	SO:0001583	missense	0			AB053309	CCDS42801.1, CCDS63091.1	2q33.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000138380	ENSG00000138380			14435	protein-coding gene	gene with protein product	"""calcium-response factor"""	607586	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8"""	ALS2CR8		11586298, 11832226	Standard	XM_005246858		Approved	FLJ21579, CaRF, NYD-SP24	uc002uzo.2	Q8N187	OTTHUMG00000154528	ENST00000402905.3:c.679G>C	2.37:g.203825996G>C	ENSP00000384006:p.Glu227Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E1W7|G3V1K7|Q8ND29|Q8WXC0|Q96J78|Q96Q38|Q96Q39|Q9H712	Missense_Mutation	SNP	NULL	p.E227Q	ENST00000402905.3	37	c.679	CCDS42801.1	2	.	.	.	.	.	.	.	.	.	.	G	27.0	4.790123	0.90367	.	.	ENSG00000138380	ENST00000402905;ENST00000444724;ENST00000414439;ENST00000428585;ENST00000545253;ENST00000545262;ENST00000434998;ENST00000320443;ENST00000438828	.	.	.	5.22	5.22	0.72569	.	0.000000	0.64402	D	0.000001	T	0.68174	0.2972	L	0.34521	1.04	0.50313	D	0.999861	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.70185	-0.4941	9	0.59425	D	0.04	-11.7718	18.1256	0.89584	0.0:0.0:1.0:0.0	.	139;151;227;227	B4DIA7;G3V1K7;Q8N187;F6SXV3	.;.;AL2S8_HUMAN;.	Q	227;227;125;151;139;151;125;227;227	.	ENSP00000316224:E227Q	E	+	1	0	ALS2CR8	203534241	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.492000	0.81482	2.587000	0.87381	0.563000	0.77884	GAG	ALS2CR8	-	NULL	ENSG00000138380		0.413	CARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALS2CR8	HGNC	protein_coding	OTTHUMT00000335768.5	94	0.00	0	G	NM_001104586		203825996	203825996	+1	no_errors	ENST00000320443	ensembl	human	known	69_37n	missense	68	22.73	20	SNP	1.000	C
AMBP	259	genome.wustl.edu	37	9	116840487	116840487	+	Start_Codon_SNP	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:116840487C>G	ENST00000265132.3	-	1	265	c.3G>C	c.(1-3)atG>atC	p.M1I		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	1					cell adhesion (GO:0007155)|female pregnancy (GO:0007565)|heme catabolic process (GO:0042167)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of JNK cascade (GO:0046329)|protein catabolic process (GO:0030163)|protein-chromophore linkage (GO:0018298)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|calcium oxalate binding (GO:0046904)|heme binding (GO:0020037)|IgA binding (GO:0019862)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)|small molecule binding (GO:0036094)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	CGAGGCTCCTCATGGCTATGG	0.637																																						dbGAP											0													65.0	75.0	71.0					9																	116840487		2203	4300	6503	-	-	-	SO:0001582	initiator_codon_variant	0			X04494	CCDS6800.1	9q32-q33	2014-01-22			ENSG00000106927	ENSG00000106927		"""Lipocalins"""	453	protein-coding gene	gene with protein product	"""growth-inhibiting protein 19"", ""uristatin"", ""complex-forming glycoprotein heterogeneous in charge"", ""bikunin"", ""inter-alpha-trypsin inhibitor light chain"", ""protein HC"", ""uronic-acid-rich protein"", ""trypstatin"""	176870		ITI, ITIL		1708673, 1385302	Standard	NM_001633		Approved	UTI, HCP, EDC1, HI30, IATIL, ITILC	uc004bie.4	P02760	OTTHUMG00000020534	ENST00000265132.3:c.3G>C	9.37:g.116840487C>G	ENSP00000265132:p.Met1Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	P00977|P02759|P78491|Q2TU33|Q5TBD7|Q9UC58|Q9UDI8	Missense_Mutation	SNP	pfam_Prot_inh_Kunz-m,pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,prints_A1-microglobln,prints_PstgldnD_synth,prints_Prot_inh_Kunz-m,prints_Lipocalin,pfscan_Prot_inh_Kunz-m	p.M1I	ENST00000265132.3	37	c.3	CCDS6800.1	9	.	.	.	.	.	.	.	.	.	.	C	11.61	1.689477	0.29962	.	.	ENSG00000106927	ENST00000265132	T	0.27557	1.66	4.39	4.39	0.52855	.	0.207947	0.47455	D	0.000233	T	0.50240	0.1604	.	.	.	0.80722	D	1	P	0.49447	0.924	P	0.60682	0.878	T	0.52808	-0.8526	9	0.72032	D	0.01	.	12.6536	0.56776	0.0:1.0:0.0:0.0	.	1	P02760	AMBP_HUMAN	I	1	ENSP00000265132:M1I	ENSP00000265132:M1I	M	-	3	0	AMBP	115880308	0.992000	0.36948	0.941000	0.38009	0.011000	0.07611	3.921000	0.56454	2.428000	0.82296	0.563000	0.77884	ATG	AMBP	-	NULL	ENSG00000106927		0.637	AMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMBP	HGNC	protein_coding	OTTHUMT00000053758.2	42	0.00	0	C	NM_001633	Missense_Mutation	116840487	116840487	-1	no_errors	ENST00000265132	ensembl	human	known	69_37n	missense	41	18.00	9	SNP	0.961	G
CEMP1	752014	genome.wustl.edu	37	16	2580357	2580357	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:2580357C>A	ENST00000567119.1	-	1	1052	c.718G>T	c.(718-720)Gat>Tat	p.D240Y	AMDHD2_ENST00000302956.4_3'UTR|CEMP1_ENST00000565480.1_Intron|MIR3178_ENST00000581887.1_RNA|CEMP1_ENST00000382350.1_Missense_Mutation_p.D240Y|AMDHD2_ENST00000413459.3_Missense_Mutation_p.S461Y|AMDHD2_ENST00000565570.1_3'UTR	NM_001048212.3	NP_001041677.1	Q6PRD7	CEMP1_HUMAN	cementum protein 1	240						cytoplasm (GO:0005737)				lung(1)|skin(1)	2						ATCCTGCCATCTTCTGTGTCC	0.642																																						dbGAP											0													61.0	67.0	65.0					16																	2580357		2106	4230	6336	-	-	-	SO:0001583	missense	0			AY584596	CCDS42108.1	16p13.3	2006-09-22							32553	protein-coding gene	gene with protein product	"""cementum protein-23"""	611113				16263347	Standard	NM_001048212		Approved	CP-23	uc002cqr.3	Q6PRD7		ENST00000567119.1:c.718G>T	16.37:g.2580357C>A	ENSP00000457380:p.Asp240Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RUY1	Missense_Mutation	SNP	pfam_Amidohydro_1,pfam_Amidohydro_3,superfamily_Metal-dep_hydrolase_composite	p.S461Y	ENST00000567119.1	37	c.1382	CCDS42108.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.933|7.933	0.741144|0.741144	0.15642|0.15642	.|.	.|.	ENSG00000205923|ENSG00000162066	ENST00000382350|ENST00000413459	T|.	0.57436|.	0.4|.	1.43|1.43	0.404|0.404	0.16355|0.16355	.|.	.|.	.|.	.|.	.|.	T|T	0.09113|0.09113	0.0225|0.0225	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	D|P	0.58268|0.43352	0.982|0.804	P|B	0.44518|0.29267	0.452|0.1	T|T	0.18335|0.18335	-1.0340|-1.0340	9|8	0.87932|0.87932	D|D	0|0	.|.	5.4293|5.4293	0.16444|0.16444	0.0:0.6405:0.3595:0.0|0.0:0.6405:0.3595:0.0	.|.	240|461	Q6PRD7|Q9Y303-3	CEMP1_HUMAN|.	Y|Y	240|461	ENSP00000371787:D240Y|.	ENSP00000371787:D240Y|ENSP00000391596:S461Y	D|S	-|+	1|2	0|0	CEMP1|AMDHD2	2520358|2520358	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	0.120000|0.120000	0.15647|0.15647	0.181000|0.181000	0.19994|0.19994	-0.305000|-0.305000	0.09177|0.09177	GAT|TCT	AMDHD2	-	NULL	ENSG00000162066		0.642	CEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMDHD2	HGNC	protein_coding	OTTHUMT00000435686.1	56	0.00	0	C	NM_001048212		2580357	2580357	+1	no_errors	ENST00000413459	ensembl	human	known	69_37n	missense	64	21.95	18	SNP	0.000	A
PCED1B	91523	genome.wustl.edu	37	12	47471774	47471774	+	5'Flank	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:47471774C>A	ENST00000546455.1	+	0	0				AMIGO2_ENST00000266581.4_Nonsense_Mutation_p.E338*|AMIGO2_ENST00000550413.1_Nonsense_Mutation_p.E338*|AMIGO2_ENST00000321382.3_Nonsense_Mutation_p.E338*|AMIGO2_ENST00000429635.1_Nonsense_Mutation_p.E338*			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B								hydrolase activity (GO:0016787)										TAAAAGTTTTCCATCTCTTTA	0.438																																						dbGAP											0													136.0	140.0	139.0					12																	47471774		2203	4300	6503	-	-	-	SO:0001631	upstream_gene_variant	0			BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617		12.37:g.47471774C>A	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96B20	Nonsense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,pfscan_Ig-like	p.E338*	ENST00000546455.1	37	c.1012	CCDS8752.1	12	.	.	.	.	.	.	.	.	.	.	C	41	8.947114	0.99012	.	.	ENSG00000139211	ENST00000266581;ENST00000550413;ENST00000429635;ENST00000321382	.	.	.	5.13	5.13	0.70059	.	0.642333	0.16343	N	0.218565	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-3.886	18.4521	0.90707	0.0:1.0:0.0:0.0	.	.	.	.	X	338	.	ENSP00000266581:E338X	E	-	1	0	AMIGO2	45758041	0.925000	0.31364	0.972000	0.41901	0.980000	0.70556	2.001000	0.40825	2.775000	0.95449	0.555000	0.69702	GAA	AMIGO2	-	smart_Ig_sub,pfscan_Ig-like	ENSG00000139211		0.438	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMIGO2	HGNC	protein_coding	OTTHUMT00000405079.1	90	0.00	0	C	NM_138371		47471774	47471774	-1	no_errors	ENST00000266581	ensembl	human	known	69_37n	nonsense	68	18.07	15	SNP	0.966	A
AMPD1	270	genome.wustl.edu	37	1	115220585	115220585	+	Silent	SNP	G	G	C	rs566349141	byFrequency	TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:115220585G>C	ENST00000520113.2	-	9	1284	c.1269C>G	c.(1267-1269)ctC>ctG	p.L423L	AMPD1_ENST00000353928.6_Silent_p.L390L|AMPD1_ENST00000369538.3_Silent_p.L419L			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	423					IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	TCTTCAAGTAGAGGTCCCGTA	0.428													G|||	3	0.000599042	0.0	0.0	5008	,	,		17562	0.0		0.0	False		,,,				2504	0.0031					dbGAP											0													169.0	147.0	155.0					1																	115220585		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"""AMPD isoform M"", ""skeletal muscle AMPD"""	102770	"""adenosine monophosphate deaminase 1 (isoform M)"""			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.1269C>G	1.37:g.115220585G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Silent	SNP	pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase	p.L423	ENST00000520113.2	37	c.1269	CCDS876.2	1																																																																																			AMPD1	-	pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase	ENSG00000116748		0.428	AMPD1-001	KNOWN	basic|CCDS	protein_coding	AMPD1	HGNC	protein_coding	OTTHUMT00000032860.4	95	0.00	0	G			115220585	115220585	-1	no_errors	ENST00000520113	ensembl	human	known	69_37n	silent	73	17.05	15	SNP	0.999	C
AMPD3	272	genome.wustl.edu	37	11	10516483	10516483	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:10516483C>G	ENST00000396554.3	+	8	1540	c.1199C>G	c.(1198-1200)tCc>tGc	p.S400C	AMPD3_ENST00000444303.2_Missense_Mutation_p.S232C	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	391					ADP metabolic process (GO:0046031)|AMP catabolic process (GO:0006196)|ATP metabolic process (GO:0046034)|energy homeostasis (GO:0097009)|IMP salvage (GO:0032264)|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)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		AAGTTCAACTCCAAATACAAC	0.537																																						dbGAP											0													137.0	138.0	138.0					11																	10516483		2201	4294	6495	-	-	-	SO:0001583	missense	0			M84722	CCDS7802.1, CCDS41617.1, CCDS44537.1, CCDS53601.1	11p15	2010-02-10	2010-02-10			ENSG00000133805	3.5.4.6		470	protein-coding gene	gene with protein product	"""erythrocyte-specific AMP deaminase"""	102772	"""adenosine monophosphate deaminase (isoform E)"""			1400401	Standard	NM_001172430		Approved		uc001min.1	Q01432		ENST00000396554.3:c.1199C>G	11.37:g.10516483C>G	ENSP00000379802:p.Ser400Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AUX0|B7Z2S2|B7Z763|B7Z877	Missense_Mutation	SNP	pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase	p.S391C	ENST00000396554.3	37	c.1172	CCDS7802.1	11	.	.	.	.	.	.	.	.	.	.	C	24.8	4.569970	0.86542	.	.	ENSG00000133805	ENST00000444303;ENST00000396554;ENST00000396553;ENST00000528723;ENST00000529507	D;D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7;-1.7	4.99	4.99	0.66335	Adenosine/AMP deaminase (1);	0.056272	0.64402	D	0.000001	D	0.90324	0.6973	M	0.75615	2.305	0.80722	D	1	D;D;D	0.62365	0.989;0.991;0.989	D;D;D	0.64877	0.93;0.92;0.93	D	0.91080	0.4899	10	0.56958	D	0.05	-22.6494	18.2964	0.90147	0.0:1.0:0.0:0.0	.	398;391;400	B7Z763;Q01432;A0AUX0	.;AMPD3_HUMAN;.	C	232;400;391;398;391	ENSP00000396000:S232C;ENSP00000379802:S400C;ENSP00000379801:S391C;ENSP00000436987:S398C;ENSP00000431648:S391C	ENSP00000379801:S391C	S	+	2	0	AMPD3	10473059	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.933000	0.63484	2.324000	0.78689	0.491000	0.48974	TCC	AMPD3	-	pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase	ENSG00000133805		0.537	AMPD3-001	PUTATIVE	basic|CCDS	protein_coding	AMPD3	HGNC	protein_coding	OTTHUMT00000385783.2	97	0.00	0	C	NM_000480		10516483	10516483	+1	no_errors	ENST00000396553	ensembl	human	known	69_37n	missense	91	17.27	19	SNP	1.000	G
AMY2A	279	genome.wustl.edu	37	1	104163236	104163236	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:104163236G>T	ENST00000414303.2	+	5	872	c.808G>T	c.(808-810)Gaa>Taa	p.E270*		NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN	amylase, alpha 2A (pancreatic)	270					carbohydrate catabolic process (GO:0016052)|carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|calcium ion binding (GO:0005509)|chloride ion binding (GO:0031404)			endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Icodextrin(DB00702)|Miglitol(DB00491)	CCGGGTGACAGAATTCAAGTA	0.368																																						dbGAP											0													24.0	24.0	24.0					1																	104163236		2175	4228	6403	-	-	-	SO:0001587	stop_gained	0			BC007060	CCDS783.1	1p21.1	2012-10-02	2007-05-03		ENSG00000243480	ENSG00000243480	3.2.1.1		477	protein-coding gene	gene with protein product		104650	"""amylase, alpha 2A; pancreatic"""	AMY2		3260028	Standard	NM_000699		Approved		uc001dut.3	P04746	OTTHUMG00000011023	ENST00000414303.2:c.808G>T	1.37:g.104163236G>T	ENSP00000397582:p.Glu270*	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EJG1|Q9UBH3	Nonsense_Mutation	SNP	pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase	p.E270*	ENST00000414303.2	37	c.808	CCDS783.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	19.82|19.82	3.898644|3.898644	0.72639|0.72639	.|.	.|.	ENSG00000243480|ENSG00000243480	ENST00000414303;ENST00000393932|ENST00000423678	.|.	.|.	.|.	3.13|3.13	3.13|3.13	0.36017|0.36017	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.51652	.|0.1687	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.53968	.|-0.8363	.|3	0.87932|.	D|.	0|.	.|.	14.3403|14.3403	0.66622|0.66622	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	270|191	.|.	ENSP00000377509:E270X|.	E|R	+|+	1|2	0|0	AMY2A|AMY2A	103964759|103964759	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.942000|0.942000	0.58702|0.58702	9.181000|9.181000	0.94874|0.94874	1.723000|1.723000	0.51488|0.51488	0.305000|0.305000	0.20034|0.20034	GAA|AGA	AMY2A	-	pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom	ENSG00000243480		0.368	AMY2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMY2A	HGNC	protein_coding	OTTHUMT00000030315.1	204	0.00	0	G	NM_000699		104163236	104163236	+1	no_errors	ENST00000414303	ensembl	human	known	69_37n	nonsense	115	16.06	22	SNP	1.000	T
AMZ2P1	201283	genome.wustl.edu	37	17	62964378	62964378	+	RNA	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:62964378C>G	ENST00000430983.1	-	0	1714					NR_026903.1				archaelysin family metallopeptidase 2 pseudogene 1																		ATTATCCACTCTTTCCATTCC	0.403																																						dbGAP											0																																										-	-	-			0			AK056627		17q24.1	2012-10-16	2010-04-08		ENSG00000214174	ENSG00000214174			26491	pseudogene	pseudogene							Standard	NR_026903		Approved	FLJ32065	uc002jfb.3		OTTHUMG00000132075		17.37:g.62964378C>G		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000430983.1	37	NULL		17																																																																																			AMZ2P1	-	-	ENSG00000214174		0.403	AMZ2P1-002	KNOWN	basic	processed_transcript	AMZ2P1	HGNC	pseudogene	OTTHUMT00000255102.1	67	0.00	0	C	NM_153032		62964378	62964378	-1	no_errors	ENST00000397713	ensembl	human	known	69_37n	rna	58	23.68	18	SNP	1.000	G
AMZ2	51321	genome.wustl.edu	37	17	66247258	66247258	+	Missense_Mutation	SNP	G	G	A	rs200387086		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:66247258G>A	ENST00000359904.3	+	4	1657	c.525G>A	c.(523-525)atG>atA	p.M175I	AMZ2_ENST00000580753.1_Missense_Mutation_p.M175I|AMZ2_ENST00000585050.1_3'UTR|AMZ2_ENST00000577273.1_Missense_Mutation_p.M175I|AMZ2_ENST00000577985.1_Missense_Mutation_p.M175I|AMZ2_ENST00000577866.1_Missense_Mutation_p.M175I|AMZ2_ENST00000392720.2_Missense_Mutation_p.M175I|AMZ2_ENST00000359783.4_Missense_Mutation_p.M117I	NM_016627.4	NP_057711.3	Q86W34	AMZ2_HUMAN	archaelysin family metallopeptidase 2	175							metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	all_cancers(12;1.12e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			GAATAACAATGATTGATCTTT	0.378																																						dbGAP											0													126.0	127.0	127.0					17																	66247258		2203	4300	6503	-	-	-	SO:0001583	missense	0			CR609550	CCDS11674.1, CCDS32714.1	17q24.2	2010-04-08			ENSG00000196704	ENSG00000196704			28041	protein-coding gene	gene with protein product	"""archaemetzincin-2"""	615169				15972818	Standard	XM_005257436		Approved		uc002jgr.1	Q86W34		ENST00000359904.3:c.525G>A	17.37:g.66247258G>A	ENSP00000352976:p.Met175Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLD9|B3KR44|Q5XKF1|Q9NZE2	Missense_Mutation	SNP	pfam_Pept_M54_archaemetzincn	p.M175I	ENST00000359904.3	37	c.525	CCDS11674.1	17	.	.	.	.	.	.	.	.	.	.	G	10.83	1.461910	0.26248	.	.	ENSG00000196704	ENST00000359904;ENST00000359783;ENST00000392720	T;T;T	0.63096	-0.02;-0.02;-0.02	3.48	3.48	0.39840	.	0.059316	0.64402	D	0.000010	T	0.55226	0.1907	M	0.70275	2.135	0.37157	D	0.902419	P;P	0.43094	0.704;0.799	B;B	0.35971	0.215;0.214	T	0.62774	-0.6783	10	0.22109	T	0.4	-13.7569	12.5615	0.56283	0.0:0.0:1.0:0.0	.	117;175	A6NLD9;Q86W34	.;AMZ2_HUMAN	I	175;117;175	ENSP00000352976:M175I;ENSP00000352831:M117I;ENSP00000376481:M175I	ENSP00000352831:M117I	M	+	3	0	AMZ2	63758853	1.000000	0.71417	0.994000	0.49952	0.706000	0.40770	6.216000	0.72212	1.787000	0.52448	0.306000	0.20318	ATG	AMZ2	-	NULL	ENSG00000196704		0.378	AMZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMZ2	HGNC	protein_coding	OTTHUMT00000448261.1	196	0.00	0	G	NM_016627		66247258	66247258	+1	no_errors	ENST00000359904	ensembl	human	known	69_37n	missense	163	14.66	28	SNP	1.000	A
ANAPC1	64682	genome.wustl.edu	37	2	112625630	112625630	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:112625630C>T	ENST00000341068.3	-	7	1427	c.655G>A	c.(655-657)Gaa>Aaa	p.E219K		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	219					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|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 K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GGAGTTATTTCATCTAGTGGG	0.328																																						dbGAP											0													60.0	64.0	62.0					2																	112625630		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.655G>A	2.37:g.112625630C>T	ENSP00000339109:p.Glu219Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	NULL	p.E219K	ENST00000341068.3	37	c.655	CCDS2093.1	2	.	.	.	.	.	.	.	.	.	.	C	31	5.097303	0.94197	.	.	ENSG00000153107	ENST00000341068	.	.	.	4.32	4.32	0.51571	.	0.000000	0.44902	U	0.000413	D	0.82944	0.5147	M	0.83384	2.64	0.80722	D	1	D	0.65815	0.995	D	0.76575	0.988	D	0.86152	0.1588	9	0.72032	D	0.01	-21.8734	17.3402	0.87293	0.0:1.0:0.0:0.0	.	219	Q9H1A4	APC1_HUMAN	K	219	.	ENSP00000339109:E219K	E	-	1	0	ANAPC1	112342101	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.576000	0.74023	2.381000	0.81170	0.557000	0.71058	GAA	ANAPC1	-	NULL	ENSG00000153107		0.328	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANAPC1	HGNC	protein_coding	OTTHUMT00000254045.2	88	0.00	0	C	NM_022662		112625630	112625630	-1	no_errors	ENST00000341068	ensembl	human	known	69_37n	missense	94	16.81	19	SNP	1.000	T
ANAPC1	64682	genome.wustl.edu	37	2	112631202	112631202	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:112631202C>G	ENST00000341068.3	-	4	1187	c.415G>C	c.(415-417)Gaa>Caa	p.E139Q	ANAPC1_ENST00000489177.1_5'UTR	NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	139					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|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 K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TAGGCCTTTTCAGACTTATCC	0.264																																						dbGAP											0													16.0	17.0	17.0					2																	112631202		2169	4249	6418	-	-	-	SO:0001583	missense	0			AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.415G>C	2.37:g.112631202C>G	ENSP00000339109:p.Glu139Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	NULL	p.E139Q	ENST00000341068.3	37	c.415	CCDS2093.1	2	.	.	.	.	.	.	.	.	.	.	C	11.43	1.636944	0.29157	.	.	ENSG00000153107	ENST00000341068	.	.	.	4.63	4.63	0.57726	.	0.267390	0.21991	U	0.066142	T	0.48804	0.1520	L	0.29908	0.895	0.34442	D	0.69975	B;B	0.31100	0.241;0.308	B;B	0.34931	0.192;0.075	T	0.56025	-0.8047	9	0.19590	T	0.45	-11.9853	17.8782	0.88831	0.0:1.0:0.0:0.0	.	139;139	F8WAS1;Q9H1A4	.;APC1_HUMAN	Q	139	.	ENSP00000339109:E139Q	E	-	1	0	ANAPC1	112347673	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	5.323000	0.65858	2.272000	0.75746	0.651000	0.88453	GAA	ANAPC1	-	NULL	ENSG00000153107		0.264	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANAPC1	HGNC	protein_coding	OTTHUMT00000254045.2	57	0.00	0	C	NM_022662		112631202	112631202	-1	no_errors	ENST00000341068	ensembl	human	known	69_37n	missense	51	22.73	15	SNP	1.000	G
ANAPC11	51529	genome.wustl.edu	37	17	79852414	79852414	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:79852414G>C	ENST00000575195.2	+	1	241	c.61G>C	c.(61-63)Gag>Cag	p.E21Q	ANAPC11_ENST00000582222.1_Missense_Mutation_p.E21Q|ANAPC11_ENST00000571570.1_Missense_Mutation_p.E21Q|ANAPC11_ENST00000577425.1_Missense_Mutation_p.E21Q|ANAPC11_ENST00000578544.1_Missense_Mutation_p.E21Q|ANAPC11_ENST00000344877.5_Missense_Mutation_p.E21Q|ANAPC11_ENST00000579133.1_Missense_Mutation_p.E21Q|ANAPC11_ENST00000579978.1_Missense_Mutation_p.E21Q|ANAPC11_ENST00000583839.1_Missense_Mutation_p.E21Q|ANAPC11_ENST00000574924.2_Missense_Mutation_p.E21Q|ANAPC11_ENST00000392376.3_Missense_Mutation_p.E21Q|ANAPC11_ENST00000571874.2_Missense_Mutation_p.E21Q|ANAPC11_ENST00000357385.3_Missense_Mutation_p.E21Q|ANAPC11_ENST00000572851.2_Missense_Mutation_p.E21Q|ALYREF_ENST00000505490.2_5'Flank|ANAPC11_ENST00000577747.1_Missense_Mutation_p.E21Q|ANAPC11_ENST00000578550.1_Missense_Mutation_p.E21Q|ANAPC11_ENST00000572639.1_Missense_Mutation_p.E21Q|ANAPC11_ENST00000571024.2_Missense_Mutation_p.E21Q|ALYREF_ENST00000331204.4_5'Flank|ANAPC11_ENST00000584314.1_Missense_Mutation_p.E21Q			Q9NYG5	APC11_HUMAN	anaphase promoting complex subunit 11	21					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|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 K11-linked ubiquitination (GO:0070979)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|lung(1)	2	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GGCCAACGATGAGAACTGTGG	0.602																																						dbGAP											0													147.0	112.0	124.0					17																	79852414		2203	4296	6499	-	-	-	SO:0001583	missense	0			AF247565	CCDS11789.1, CCDS32769.1, CCDS74180.1	17q25.3	2011-06-15	2008-10-30			ENSG00000141552		"""Anaphase promoting complex subunits"""	14452	protein-coding gene	gene with protein product		614534	"""anaphase promoting complex subunit 11 (yeast APC11 homolog)"""			10922056	Standard	NM_001002245		Approved	HSPC214, APC11, Apc11p, MGC882	uc002kby.1	Q9NYG5		ENST00000575195.2:c.61G>C	17.37:g.79852414G>C	ENSP00000458515:p.Glu21Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MTT2|B7ZW64|Q502X9|Q9BW64|Q9P0R2	Missense_Mutation	SNP	NULL	p.E21Q	ENST00000575195.2	37	c.61	CCDS11789.1	17	.	.	.	.	.	.	.	.	.	.	G	26.6	4.752892	0.89753	.	.	ENSG00000141552	ENST00000357385;ENST00000344877;ENST00000392376	.	.	.	4.98	4.98	0.66077	Zinc finger, RING/FYVE/PHD-type (1);	0.079587	0.47455	D	0.000224	T	0.79112	0.4391	.	.	.	0.80722	D	1	D;B	0.89917	1.0;0.436	D;P	0.71870	0.975;0.481	T	0.82202	-0.0574	8	0.72032	D	0.01	-19.5336	16.4498	0.83976	0.0:0.0:1.0:0.0	.	21;21	Q9NYG5-2;Q9NYG5	.;APC11_HUMAN	Q	21	.	ENSP00000339695:E21Q	E	+	1	0	ANAPC11	77445710	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.052000	0.93855	2.324000	0.78689	0.655000	0.94253	GAG	ANAPC11	-	NULL	ENSG00000141552		0.602	ANAPC11-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ANAPC11	HGNC	protein_coding	OTTHUMT00000440106.2	45	0.00	0	G	NM_016476		79852414	79852414	+1	no_errors	ENST00000357385	ensembl	human	known	69_37n	missense	42	32.26	20	SNP	1.000	C
ANAPC7	51434	genome.wustl.edu	37	12	110813984	110813984	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:110813984C>T	ENST00000455511.3	-	10	1497	c.1497G>A	c.(1495-1497)ctG>ctA	p.L499L	ANAPC7_ENST00000450008.2_Silent_p.L499L|ANAPC7_ENST00000481473.1_5'UTR	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN	anaphase promoting complex subunit 7	499					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|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 K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)			breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						GTGCGTTCCTCAGCAAAGCAA	0.433																																						dbGAP											0													144.0	127.0	133.0					12																	110813984		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF191340	CCDS9145.2, CCDS44971.1	12q13.12	2013-01-10			ENSG00000196510	ENSG00000196510		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	17380	protein-coding gene	gene with protein product		606949					Standard	NM_016238		Approved	APC7	uc001tqo.2	Q9UJX3	OTTHUMG00000157009	ENST00000455511.3:c.1497G>A	12.37:g.110813984C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96AC4|Q96GF4|Q9BU24|Q9NT16	Missense_Mutation	SNP	pfam_TPR_2,pfam_TPR-1,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E49K	ENST00000455511.3	37	c.145	CCDS9145.2	12	.	.	.	.	.	.	.	.	.	.	C	9.288	1.049814	0.19827	.	.	ENSG00000196510	ENST00000552087	.	.	.	5.8	2.99	0.34606	.	.	.	.	.	T	0.57272	0.2042	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49495	-0.8934	4	.	.	.	-7.3859	7.9624	0.30079	0.0:0.6772:0.1245:0.1983	.	.	.	.	K	49	.	.	E	-	1	0	ANAPC7	109298367	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	1.054000	0.30455	0.373000	0.24621	0.561000	0.74099	GAG	ANAPC7	-	NULL	ENSG00000196510		0.433	ANAPC7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANAPC7	HGNC	protein_coding	OTTHUMT00000347075.3	55	0.00	0	C	NM_016238		110813984	110813984	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000552087	ensembl	human	putative	69_37n	missense	76	19.15	18	SNP	1.000	T
ANGPT1	284	genome.wustl.edu	37	8	108509723	108509723	+	IGR	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:108509723G>C								ANGPT1 (160973 upstream) : RNA5SP275 (386998 downstream)																							CTTCGGCGCTGATTGCTGCAC	0.493																																						dbGAP											0													142.0	118.0	126.0					8																	108509723		2203	4300	6503	-	-	-	SO:0001628	intergenic_variant	0																															8.37:g.108509723G>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.Q22E		37	c.64		8	.	.	.	.	.	.	.	.	.	.	G	11.41	1.631759	0.29068	.	.	ENSG00000154188	ENST00000517746;ENST00000297450	D;D	0.83591	-1.74;-1.74	5.84	5.84	0.93424	.	0.422446	0.23155	N	0.051306	T	0.77089	0.4079	L	0.34521	1.04	0.80722	D	1	B;B	0.22480	0.07;0.07	B;B	0.25291	0.059;0.059	T	0.70718	-0.4795	10	0.10902	T	0.67	.	20.157	0.98115	0.0:0.0:1.0:0.0	.	22;22	Q5HYA0;Q15389	.;ANGP1_HUMAN	E	22	ENSP00000428340:Q22E;ENSP00000297450:Q22E	ENSP00000297450:Q22E	Q	-	1	0	ANGPT1	108578899	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.797000	0.69087	2.768000	0.95171	0.650000	0.86243	CAG	ANGPT1	-	NULL	ENSG00000154188	0	0.493					ANGPT1	HGNC			100	0.00	0	G			108509723	108509723	-1	no_errors	ENST00000517746	ensembl	human	known	69_37n	missense	123	19.61	30	SNP	1.000	C
ANGPTL3	27329	genome.wustl.edu	37	1	63064463	63064463	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:63064463G>C	ENST00000371129.3	+	2	672	c.592G>C	c.(592-594)Gaa>Caa	p.E198Q	DOCK7_ENST00000340370.5_Intron|DOCK7_ENST00000404627.2_Intron|DOCK7_ENST00000251157.5_Intron	NM_014495.2	NP_055310.1	Q9Y5C1	ANGL3_HUMAN	angiopoietin-like 3	198					acylglycerol homeostasis (GO:0055090)|artery morphogenesis (GO:0048844)|cell-matrix adhesion (GO:0007160)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|fatty acid metabolic process (GO:0006631)|glycerol metabolic process (GO:0006071)|integrin-mediated signaling pathway (GO:0007229)|lipid homeostasis (GO:0055088)|lipid storage (GO:0019915)|negative regulation of lipoprotein lipase activity (GO:0051005)|negative regulation of phospholipase activity (GO:0010519)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of lipid catabolic process (GO:0050996)|response to hormone (GO:0009725)|signal transduction (GO:0007165)|triglyceride homeostasis (GO:0070328)	cell surface (GO:0009986)|extracellular space (GO:0005615)	enzyme inhibitor activity (GO:0004857)|growth factor activity (GO:0008083)|integrin binding (GO:0005178)|phospholipase inhibitor activity (GO:0004859)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|urinary_tract(1)	13						TCAAATAAAAGAAATAGAAAA	0.323																																						dbGAP											0													105.0	103.0	104.0					1																	63064463		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF152562	CCDS622.1	1p31.3	2013-02-06			ENSG00000132855	ENSG00000132855		"""Fibrinogen C domain containing"""	491	protein-coding gene	gene with protein product	"""angiopoietin 5"""	604774		ANGPT5		10644446	Standard	NM_014495		Approved		uc001das.2	Q9Y5C1	OTTHUMG00000009146	ENST00000371129.3:c.592G>C	1.37:g.63064463G>C	ENSP00000360170:p.Glu198Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A0JLS0|B1ALJ0|B2RCW1	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.E198Q	ENST00000371129.3	37	c.592	CCDS622.1	1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.059791	0.55325	.	.	ENSG00000132855	ENST00000371129	T	0.64260	-0.09	5.5	4.58	0.56647	.	0.380726	0.30159	N	0.010273	T	0.46580	0.1400	M	0.62723	1.935	0.25863	N	0.983791	P	0.49559	0.925	P	0.49361	0.608	T	0.37709	-0.9694	10	0.16896	T	0.51	.	9.8475	0.41037	0.0734:0.1409:0.7857:0.0	.	198	Q9Y5C1	ANGL3_HUMAN	Q	198	ENSP00000360170:E198Q	ENSP00000360170:E198Q	E	+	1	0	ANGPTL3	62837051	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.687000	0.46976	1.439000	0.47511	0.655000	0.94253	GAA	ANGPTL3	-	NULL	ENSG00000132855		0.323	ANGPTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGPTL3	HGNC	protein_coding	OTTHUMT00000025344.1	129	0.00	0	G	NM_014495		63064463	63064463	+1	no_errors	ENST00000371129	ensembl	human	known	69_37n	missense	91	18.02	20	SNP	1.000	C
ANK2	287	genome.wustl.edu	37	4	114095592	114095592	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:114095592C>T	ENST00000357077.4	+	2	158	c.105C>T	c.(103-105)ttC>ttT	p.F35F	ANK2_ENST00000506722.1_Silent_p.F14F|ANK2_ENST00000394537.3_Silent_p.F35F|ANK2_ENST00000264366.6_Silent_p.F35F	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	35					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATGCAAGCTTCCTCCGTGCTG	0.418																																						dbGAP											0													65.0	57.0	60.0					4																	114095592		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.105C>T	4.37:g.114095592C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.F35	ENST00000357077.4	37	c.105	CCDS3702.1	4																																																																																			ANK2	-	smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000145362		0.418	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2	75	0.00	0	C	NM_001148		114095592	114095592	+1	no_errors	ENST00000357077	ensembl	human	known	69_37n	silent	43	32.81	21	SNP	1.000	T
ANK2	287	genome.wustl.edu	37	4	114264272	114264272	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:114264272G>A	ENST00000357077.4	+	34	4275	c.4222G>A	c.(4222-4224)Gaa>Aaa	p.E1408K	ANK2_ENST00000506722.1_Missense_Mutation_p.E1399K|ANK2_ENST00000394537.3_Missense_Mutation_p.E1408K|ANK2_ENST00000509550.1_Missense_Mutation_p.E584K|ANK2_ENST00000510275.2_Missense_Mutation_p.E60K|ANK2_ENST00000264366.6_Missense_Mutation_p.E1375K	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1408	UPA domain.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGCCTTCAAAGAAAATAGACT	0.338																																						dbGAP											0													134.0	131.0	132.0					4																	114264272		2203	4300	6503	-	-	-	SO:0001583	missense	0			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.4222G>A	4.37:g.114264272G>A	ENSP00000349588:p.Glu1408Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.E1408K	ENST00000357077.4	37	c.4222	CCDS3702.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.503451|5.503451	0.96371|0.96371	.|.	.|.	ENSG00000145362|ENSG00000145362	ENST00000503423;ENST00000506722;ENST00000431447;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550;ENST00000510275|ENST00000514960	T;T;T;T;T;T;T;T|.	0.28666|.	1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6|.	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	0.000000|.	0.56097|.	D|.	0.000031|.	D|D	0.84032|0.84032	0.5383|0.5383	M|M	0.87971|0.87971	2.92|2.92	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D|.	0.89917|.	0.998;0.998;0.984;0.999;1.0;1.0;0.992|.	D;D;P;D;D;D;D|.	0.91635|.	0.99;0.993;0.749;0.993;0.999;0.999;0.936|.	D|D	0.85868|0.85868	0.1414|0.1414	10|5	0.87932|.	D|.	0|.	.|.	19.3976|19.3976	0.94612|0.94612	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	584;1375;454;420;1408;1408;1399|.	E9PCH6;Q01484;F8W694;Q7Z344;Q01484-2;Q01484-4;Q01484-5|.	.;ANK2_HUMAN;.;.;.;.;.|.	K|K	1321;1399;454;1423;1408;1408;1375;1399;584;60|420	ENSP00000421011:E1321K;ENSP00000421067:E1399K;ENSP00000424722:E1423K;ENSP00000378044:E1408K;ENSP00000349588:E1408K;ENSP00000264366:E1375K;ENSP00000426944:E584K;ENSP00000421023:E60K|.	ENSP00000264366:E1375K|.	E|R	+|+	1|2	0|0	ANK2|ANK2	114483721|114483721	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.869000|9.869000	0.99810|0.99810	2.575000|2.575000	0.86900|0.86900	0.650000|0.650000	0.86243|0.86243	GAA|AGA	ANK2	-	NULL	ENSG00000145362		0.338	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2	190	0.00	0	G	NM_001148		114264272	114264272	+1	no_errors	ENST00000357077	ensembl	human	known	69_37n	missense	108	25.00	36	SNP	1.000	A
ANK2	287	genome.wustl.edu	37	4	114277642	114277642	+	Missense_Mutation	SNP	C	C	A	rs116253689	byFrequency	TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:114277642C>A	ENST00000357077.4	+	38	7921	c.7868C>A	c.(7867-7869)tCt>tAt	p.S2623Y	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.S2590Y	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2623					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCTTCTTCATCTTCTGACCCA	0.403																																						dbGAP											0													141.0	147.0	145.0					4																	114277642		2203	4300	6503	-	-	-	SO:0001583	missense	0			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.7868C>A	4.37:g.114277642C>A	ENSP00000349588:p.Ser2623Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.S2623Y	ENST00000357077.4	37	c.7868	CCDS3702.1	4	.	.	.	.	.	.	.	.	.	.	C	18.00	3.524435	0.64747	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.67523	-0.26;-0.27	6.01	4.22	0.49857	.	0.913609	0.09216	N	0.832623	T	0.65123	0.2661	L	0.41236	1.265	0.09310	N	0.999999	P;P	0.51351	0.924;0.944	P;P	0.51135	0.459;0.66	T	0.53885	-0.8375	9	.	.	.	.	7.5552	0.27820	0.1206:0.6722:0.1299:0.0773	.	2590;2623	Q01484;Q01484-4	ANK2_HUMAN;.	Y	2623;2590	ENSP00000349588:S2623Y;ENSP00000264366:S2590Y	.	S	+	2	0	ANK2	114497091	0.002000	0.14202	0.885000	0.34714	0.775000	0.43874	0.459000	0.21908	2.850000	0.98022	0.655000	0.94253	TCT	ANK2	-	NULL	ENSG00000145362		0.403	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2	102	0.00	0	C	NM_001148		114277642	114277642	+1	no_errors	ENST00000357077	ensembl	human	known	69_37n	missense	78	14.29	13	SNP	0.003	A
ANKFN1	162282	genome.wustl.edu	37	17	54428145	54428145	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:54428145G>A	ENST00000318698.2	+	4	251	c.216G>A	c.(214-216)atG>atA	p.M72I	ANKFN1_ENST00000566473.2_Missense_Mutation_p.M72I	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	72										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						GTGTGAAAATGACGCAACAAA	0.388																																						dbGAP											0													96.0	96.0	96.0					17																	54428145		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.216G>A	17.37:g.54428145G>A	ENSP00000321627:p.Met72Ile	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Fibronectin_type3,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Fibronectin_type3	p.M72I	ENST00000318698.2	37	c.216	CCDS32686.1	17	.	.	.	.	.	.	.	.	.	.	G	31	5.065500	0.93898	.	.	ENSG00000153930	ENST00000318698	T	0.25085	1.82	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.30665	0.0772	L	0.59436	1.845	0.53688	D	0.99997	P	0.38504	0.634	B	0.35510	0.204	T	0.12167	-1.0558	10	0.72032	D	0.01	.	19.5581	0.95361	0.0:0.0:1.0:0.0	.	72	Q8N957	ANKF1_HUMAN	I	72	ENSP00000321627:M72I	ENSP00000321627:M72I	M	+	3	0	ANKFN1	51783144	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.614000	0.88457	0.655000	0.94253	ATG	ANKFN1	-	NULL	ENSG00000153930		0.388	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKFN1	HGNC	protein_coding	OTTHUMT00000338043.1	108	0.00	0	G	NM_153228		54428145	54428145	+1	no_errors	ENST00000318698	ensembl	human	known	69_37n	missense	129	26.70	47	SNP	1.000	A
ANKFN1	162282	genome.wustl.edu	37	17	54520242	54520242	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:54520242G>A	ENST00000318698.2	+	9	1091	c.1056G>A	c.(1054-1056)atG>atA	p.M352I	ANKFN1_ENST00000566473.2_Missense_Mutation_p.M352I	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	352	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.									NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						CTTACAATATGAAAGGATGGG	0.448																																						dbGAP											0													125.0	117.0	120.0					17																	54520242		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.1056G>A	17.37:g.54520242G>A	ENSP00000321627:p.Met352Ile	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Fibronectin_type3,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Fibronectin_type3	p.M352I	ENST00000318698.2	37	c.1056	CCDS32686.1	17	.	.	.	.	.	.	.	.	.	.	G	21.9	4.211808	0.79240	.	.	ENSG00000153930	ENST00000318698	T	0.56611	0.45	5.51	5.51	0.81932	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.68016	0.2955	L	0.51914	1.62	0.58432	D	0.999999	D	0.64830	0.994	D	0.67103	0.949	T	0.66791	-0.5834	10	0.48119	T	0.1	-16.8631	19.4229	0.94729	0.0:0.0:1.0:0.0	.	352	Q8N957	ANKF1_HUMAN	I	352	ENSP00000321627:M352I	ENSP00000321627:M352I	M	+	3	0	ANKFN1	51875241	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	6.407000	0.73280	2.574000	0.86865	0.563000	0.77884	ATG	ANKFN1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000153930		0.448	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKFN1	HGNC	protein_coding	OTTHUMT00000338043.1	85	0.00	0	G	NM_153228		54520242	54520242	+1	no_errors	ENST00000318698	ensembl	human	known	69_37n	missense	164	12.70	24	SNP	1.000	A
ANKMY2	57037	genome.wustl.edu	37	7	16650204	16650204	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:16650204C>T	ENST00000306999.2	-	6	959	c.716G>A	c.(715-717)gGa>gAa	p.G239E		NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN	ankyrin repeat and MYND domain containing 2	239						cilium (GO:0005929)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		TTTATTCTCTCCATCTTTTAA	0.303																																						dbGAP											0													119.0	110.0	113.0					7																	16650204		2202	4300	6502	-	-	-	SO:0001583	missense	0			AK001740	CCDS5361.1	7p21	2013-01-10			ENSG00000106524	ENSG00000106524		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	25370	protein-coding gene	gene with protein product						12477932	Standard	NM_020319		Approved	DKFZP564O043, ZMYND20	uc003sti.3	Q8IV38	OTTHUMG00000090806	ENST00000306999.2:c.716G>A	7.37:g.16650204C>T	ENSP00000303570:p.Gly239Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D124|Q659G1|Q96BL3	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Znf_MYND,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_MYND	p.G239E	ENST00000306999.2	37	c.716	CCDS5361.1	7	.	.	.	.	.	.	.	.	.	.	C	7.243	0.601692	0.13939	.	.	ENSG00000106524	ENST00000306999	D	0.82984	-1.67	5.89	5.89	0.94794	.	0.154890	0.64402	D	0.000011	T	0.60064	0.2240	N	0.03608	-0.345	0.43632	D	0.996029	B	0.31435	0.323	B	0.27380	0.079	T	0.64769	-0.6329	10	0.02654	T	1	-10.1163	13.4529	0.61182	0.0:0.9288:0.0:0.0712	.	239	Q8IV38	ANKY2_HUMAN	E	239	ENSP00000303570:G239E	ENSP00000303570:G239E	G	-	2	0	ANKMY2	16616729	0.998000	0.40836	1.000000	0.80357	0.989000	0.77384	2.629000	0.46485	2.783000	0.95769	0.655000	0.94253	GGA	ANKMY2	-	NULL	ENSG00000106524		0.303	ANKMY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKMY2	HGNC	protein_coding	OTTHUMT00000207600.2	124	0.00	0	C	NM_020319		16650204	16650204	-1	no_errors	ENST00000306999	ensembl	human	known	69_37n	missense	84	22.94	25	SNP	1.000	T
ANKIB1	54467	genome.wustl.edu	37	7	91991574	91991574	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:91991574G>A	ENST00000265742.3	+	10	1849	c.1473G>A	c.(1471-1473)atG>atA	p.M491I		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	491							zinc ion binding (GO:0008270)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TAACCGAAATGAAACCAGAAG	0.353																																						dbGAP											0													66.0	63.0	64.0					7																	91991574		1846	4097	5943	-	-	-	SO:0001583	missense	0			AB037807	CCDS47639.1	7q21.3	2013-01-10			ENSG00000001629	ENSG00000001629		"""Ankyrin repeat domain containing"""	22215	protein-coding gene	gene with protein product							Standard	NM_019004		Approved	DKFZP434A0225, KIAA1386	uc003ulw.2	Q9P2G1	OTTHUMG00000155859	ENST00000265742.3:c.1473G>A	7.37:g.91991574G>A	ENSP00000265742:p.Met491Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	Missense_Mutation	SNP	pfam_Znf_C6HC,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Znf_RING,smart_Znf_C6HC,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif,pfscan_Znf_RING	p.M491I	ENST00000265742.3	37	c.1473	CCDS47639.1	7	.	.	.	.	.	.	.	.	.	.	G	19.22	3.786117	0.70337	.	.	ENSG00000001629	ENST00000265742	T	0.09911	2.93	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.06280	0.0162	N	0.04297	-0.235	0.58432	D	0.999998	B	0.27416	0.178	B	0.26517	0.07	T	0.46076	-0.9217	10	0.29301	T	0.29	.	16.6952	0.85333	0.0:0.0:1.0:0.0	.	491	Q9P2G1	AKIB1_HUMAN	I	491	ENSP00000265742:M491I	ENSP00000265742:M491I	M	+	3	0	ANKIB1	91829510	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.526000	0.98042	2.442000	0.82660	0.655000	0.94253	ATG	ANKIB1	-	NULL	ENSG00000001629		0.353	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKIB1	HGNC	protein_coding	OTTHUMT00000342018.1	107	0.00	0	G			91991574	91991574	+1	no_errors	ENST00000265742	ensembl	human	known	69_37n	missense	78	17.02	16	SNP	1.000	A
ANKRD1	27063	genome.wustl.edu	37	10	92672642	92672642	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:92672642G>C	ENST00000371697.3	-	9	1189	c.941C>G	c.(940-942)tCt>tGt	p.S314C		NM_014391.2	NP_055206.2	Q15327	ANKR1_HUMAN	ankyrin repeat domain 1 (cardiac muscle)	314					cardiac muscle tissue morphogenesis (GO:0055008)|cellular lipid metabolic process (GO:0044255)|cellular response to drug (GO:0035690)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muscle stretch (GO:0035994)|sarcomere organization (GO:0045214)|skeletal muscle cell differentiation (GO:0035914)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I band (GO:0031674)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|p53 binding (GO:0002039)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|titin binding (GO:0031432)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27		Colorectal(252;0.0475)				AGCTATGCGAGAGGTCTTGTA	0.463																																						dbGAP											0													293.0	268.0	277.0					10																	92672642		2203	4300	6503	-	-	-	SO:0001583	missense	0			X83703	CCDS7412.1	10q23.33	2014-09-17			ENSG00000148677	ENSG00000148677		"""Ankyrin repeat domain containing"""	15819	protein-coding gene	gene with protein product		609599				7730328	Standard	NM_014391		Approved	C-193, ALRP, CARP, CVARP, MCARP	uc001khe.1	Q15327	OTTHUMG00000018734	ENST00000371697.3:c.941C>G	10.37:g.92672642G>C	ENSP00000360762:p.Ser314Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96LE7	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.S314C	ENST00000371697.3	37	c.941	CCDS7412.1	10	.	.	.	.	.	.	.	.	.	.	G	15.18	2.756690	0.49362	.	.	ENSG00000148677	ENST00000371697	T	0.68479	-0.33	5.67	3.78	0.43462	.	0.174428	0.40554	N	0.001075	T	0.49592	0.1566	N	0.12182	0.205	0.24904	N	0.992084	D	0.58620	0.983	P	0.46975	0.533	T	0.46373	-0.9196	10	0.87932	D	0	.	7.0883	0.25270	0.0685:0.1265:0.6738:0.1311	.	314	Q15327	ANKR1_HUMAN	C	314	ENSP00000360762:S314C	ENSP00000360762:S314C	S	-	2	0	ANKRD1	92662622	0.733000	0.28132	0.994000	0.49952	0.946000	0.59487	1.058000	0.30504	1.519000	0.48950	0.591000	0.81541	TCT	ANKRD1	-	NULL	ENSG00000148677		0.463	ANKRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD1	HGNC	protein_coding	OTTHUMT00000049357.1	171	0.00	0	G	NM_014391		92672642	92672642	-1	no_errors	ENST00000371697	ensembl	human	known	69_37n	missense	71	33.64	36	SNP	0.604	C
ANKRD11	29123	genome.wustl.edu	37	16	89347801	89347801	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:89347801C>T	ENST00000301030.4	-	9	5609	c.5149G>A	c.(5149-5151)Gag>Aag	p.E1717K	ANKRD11_ENST00000378330.2_Missense_Mutation_p.E1717K	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1717					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TGCATCACCTCCTCGTAGCTG	0.682																																						dbGAP											0													55.0	60.0	58.0					16																	89347801		2198	4299	6497	-	-	-	SO:0001583	missense	0			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.5149G>A	16.37:g.89347801C>T	ENSP00000301030:p.Glu1717Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NTG1|Q6QMF8	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E1717K	ENST00000301030.4	37	c.5149	CCDS32513.1	16	.	.	.	.	.	.	.	.	.	.	C	33	5.193612	0.94960	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.47528	0.84;0.84	4.91	4.91	0.64330	.	0.000000	0.64402	D	0.000002	T	0.59183	0.2175	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.63466	-0.6631	10	0.72032	D	0.01	.	16.8625	0.86021	0.0:1.0:0.0:0.0	.	1717	Q6UB99	ANR11_HUMAN	K	1717	ENSP00000301030:E1717K;ENSP00000367581:E1717K	ENSP00000301030:E1717K	E	-	1	0	ANKRD11	87875302	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.023000	0.76437	2.270000	0.75569	0.462000	0.41574	GAG	ANKRD11	-	NULL	ENSG00000167522		0.682	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD11	HGNC	protein_coding	OTTHUMT00000430462.3	23	0.00	0	C	NM_013275		89347801	89347801	-1	no_errors	ENST00000301030	ensembl	human	known	69_37n	missense	27	22.86	8	SNP	1.000	T
ANKRD11	29123	genome.wustl.edu	37	16	89348213	89348213	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:89348213C>T	ENST00000301030.4	-	9	5197	c.4737G>A	c.(4735-4737)atG>atA	p.M1579I	ANKRD11_ENST00000378330.2_Missense_Mutation_p.M1579I	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1579	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		AGCTGGTCATCATCAGGTCGC	0.577																																						dbGAP											0													71.0	63.0	66.0					16																	89348213		2198	4300	6498	-	-	-	SO:0001583	missense	0			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.4737G>A	16.37:g.89348213C>T	ENSP00000301030:p.Met1579Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NTG1|Q6QMF8	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.M1579I	ENST00000301030.4	37	c.4737	CCDS32513.1	16	.	.	.	.	.	.	.	.	.	.	C	15.96	2.986660	0.53934	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.54279	0.58;0.58	5.08	5.08	0.68730	.	0.122178	0.56097	D	0.000026	T	0.41789	0.1174	N	0.19112	0.55	0.80722	D	1	B	0.25441	0.126	B	0.22753	0.041	T	0.39354	-0.9618	10	0.72032	D	0.01	.	18.0532	0.89356	0.0:1.0:0.0:0.0	.	1579	Q6UB99	ANR11_HUMAN	I	1579	ENSP00000301030:M1579I;ENSP00000367581:M1579I	ENSP00000301030:M1579I	M	-	3	0	ANKRD11	87875714	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	2.347000	0.44036	2.353000	0.79882	0.462000	0.41574	ATG	ANKRD11	-	NULL	ENSG00000167522		0.577	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD11	HGNC	protein_coding	OTTHUMT00000430462.3	71	0.00	0	C	NM_013275		89348213	89348213	-1	no_errors	ENST00000301030	ensembl	human	known	69_37n	missense	85	24.11	27	SNP	1.000	T
ANKRD11	29123	genome.wustl.edu	37	16	89349094	89349094	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:89349094C>A	ENST00000301030.4	-	9	4316	c.3856G>T	c.(3856-3858)Gaa>Taa	p.E1286*	ANKRD11_ENST00000378330.2_Nonsense_Mutation_p.E1286*	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1286	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		AGAGCCTCTTCTTCCAACTTT	0.512																																						dbGAP											0													62.0	62.0	62.0					16																	89349094		2198	4300	6498	-	-	-	SO:0001587	stop_gained	0			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.3856G>T	16.37:g.89349094C>A	ENSP00000301030:p.Glu1286*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NTG1|Q6QMF8	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E1286*	ENST00000301030.4	37	c.3856	CCDS32513.1	16	.	.	.	.	.	.	.	.	.	.	C	44	11.055557	0.99509	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	.	.	.	5.3	4.35	0.52113	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	14.1329	0.65266	0.0:0.9264:0.0:0.0736	.	.	.	.	X	1286	.	ENSP00000301030:E1286X	E	-	1	0	ANKRD11	87876595	1.000000	0.71417	0.812000	0.32479	0.012000	0.07955	5.551000	0.67274	1.369000	0.46134	-0.254000	0.11334	GAA	ANKRD11	-	NULL	ENSG00000167522		0.512	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD11	HGNC	protein_coding	OTTHUMT00000430462.3	44	0.00	0	C	NM_013275		89349094	89349094	-1	no_errors	ENST00000301030	ensembl	human	known	69_37n	nonsense	68	18.07	15	SNP	1.000	A
ANKRD13D	338692	genome.wustl.edu	37	11	67066560	67066560	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:67066560G>C	ENST00000447274.2	+	7	1677	c.502G>C	c.(502-504)Gag>Cag	p.E168Q	ANKRD13D_ENST00000511455.2_Missense_Mutation_p.E255Q|ANKRD13D_ENST00000308440.6_Missense_Mutation_p.E168Q|ANKRD13D_ENST00000514166.1_Missense_Mutation_p.E168Q|ANKRD13D_ENST00000515828.1_5'Flank			Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	168						endosome (GO:0005768)|plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CTGGCGGTCTGAGAAGATGGA	0.582																																						dbGAP											0													148.0	139.0	142.0					11																	67066560		2200	4295	6495	-	-	-	SO:0001583	missense	0			AK027313	CCDS31616.1, CCDS31616.2	11q13.2	2013-01-11		2005-08-09	ENSG00000172932	ENSG00000172932		"""Ankyrin repeat domain containing"""	27880	protein-coding gene	gene with protein product		615126					Standard	NM_207354		Approved		uc001okd.2	Q6ZTN6	OTTHUMG00000162929	ENST00000447274.2:c.502G>C	11.37:g.67066560G>C	ENSP00000402616:p.Glu168Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	D6RCN6|Q0VAK0|Q0VGC3|Q6ZVD0|Q86SU1	Missense_Mutation	SNP	pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ubiquitin-int_motif,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif	p.E255Q	ENST00000447274.2	37	c.763		11	.	.	.	.	.	.	.	.	.	.	G	22.5	4.303144	0.81136	.	.	ENSG00000172932	ENST00000447274;ENST00000511455;ENST00000308440;ENST00000514166	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	4.66	3.72	0.42706	.	0.070643	0.53938	N	0.000050	T	0.70107	0.3186	M	0.86178	2.8	0.58432	D	0.999998	D;D	0.76494	0.999;0.996	D;D	0.74023	0.982;0.958	T	0.75181	-0.3408	10	0.49607	T	0.09	-19.1213	14.7109	0.69232	0.0:0.1461:0.8539:0.0	.	255;168	Q6ZTN6-3;Q6ZTN6	.;AN13D_HUMAN	Q	168;255;168;168	ENSP00000402616:E168Q;ENSP00000427130:E255Q;ENSP00000310874:E168Q;ENSP00000444404:E168Q	ENSP00000310874:E168Q	E	+	1	0	ANKRD13D	66823136	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.366000	0.79548	1.279000	0.44446	0.655000	0.94253	GAG	ANKRD13D	-	pfam_ANKRD13	ENSG00000172932		0.582	ANKRD13D-001	KNOWN	basic	protein_coding	ANKRD13D	HGNC	protein_coding	OTTHUMT00000371067.2	117	0.00	0	G	NM_207354		67066560	67066560	+1	no_errors	ENST00000511455	ensembl	human	known	69_37n	missense	135	43.28	103	SNP	1.000	C
ANKRD16	54522	genome.wustl.edu	37	10	5922263	5922263	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:5922263G>C	ENST00000380094.5	-	6	1469	c.926C>G	c.(925-927)tCa>tGa	p.S309*	ANKRD16_ENST00000191063.8_Intron|ANKRD16_ENST00000380092.4_Nonsense_Mutation_p.S309*	NM_019046.2	NP_061919.1	Q6P6B7	ANR16_HUMAN	ankyrin repeat domain 16	309								p.S309*(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(3)|stomach(2)	12						AACGGTACCTGATCGATTTTT	0.284																																						dbGAP											1	Substitution - Nonsense(1)	lung(1)											75.0	73.0	74.0					10																	5922263		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AL137614	CCDS31136.1, CCDS31137.1	10p15.1	2013-01-10			ENSG00000134461	ENSG00000134461		"""Ankyrin repeat domain containing"""	23471	protein-coding gene	gene with protein product							Standard	NM_019046		Approved	DKFZP434N1511	uc010qat.2	Q6P6B7	OTTHUMG00000017610	ENST00000380094.5:c.926C>G	10.37:g.5922263G>C	ENSP00000369436:p.Ser309*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEF0|F8WEI4|Q9NT01	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.S309*	ENST00000380094.5	37	c.926	CCDS31136.1	10	.	.	.	.	.	.	.	.	.	.	G	39	7.751589	0.98468	.	.	ENSG00000134461	ENST00000380094;ENST00000380092	.	.	.	4.41	4.41	0.53225	.	0.233665	0.36409	N	0.002605	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-6.9681	15.6324	0.76920	0.0:0.0:1.0:0.0	.	.	.	.	X	309	.	ENSP00000369434:S309X	S	-	2	0	ANKRD16	5962269	1.000000	0.71417	1.000000	0.80357	0.665000	0.39181	5.878000	0.69682	2.023000	0.59567	0.478000	0.44815	TCA	ANKRD16	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000134461		0.284	ANKRD16-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	ANKRD16	HGNC	protein_coding	OTTHUMT00000046611.2	107	0.00	0	G	XM_166138		5922263	5922263	-1	no_errors	ENST00000380092	ensembl	human	known	69_37n	nonsense	81	27.03	30	SNP	1.000	C
ANKRD18DP	348840	genome.wustl.edu	37	3	197804087	197804087	+	RNA	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:197804087C>T	ENST00000435620.2	-	0	428					NR_003291.1				ankyrin repeat domain 18D, pseudogene																		AGATGTCGATCTGACATTTTC	0.453																																						dbGAP											0													171.0	146.0	153.0					3																	197804087		692	1591	2283	-	-	-			0			BC042518		3q29	2011-11-23			ENSG00000226435	ENSG00000226435			28016	pseudogene	pseudogene							Standard	NR_003291		Approved		uc003fyx.3		OTTHUMG00000150228		3.37:g.197804087C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000435620.2	37	NULL		3																																																																																			ANKRD18DP	-	-	ENSG00000226435		0.453	ANKRD18DP-001	KNOWN	basic	processed_transcript	ANKRD18DP	HGNC	pseudogene	OTTHUMT00000316910.2	140	0.00	0	C	NR_003291		197804087	197804087	-1	no_errors	ENST00000335478	ensembl	human	known	69_37n	rna	175	15.05	31	SNP	0.982	T
ANKRD20A8P	729171	genome.wustl.edu	37	2	95488771	95488771	+	RNA	SNP	C	C	G	rs190657112	byFrequency	TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:95488771C>G	ENST00000432432.2	-	0	1242					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene																		CTTTTCACTTCTTTCATGCCT	0.343																																						dbGAP											0																																										-	-	-			0					2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95488771C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NC18	RNA	SNP	-	NULL	ENST00000432432.2	37	NULL		2																																																																																			ANKRD20A8P	-	-	ENSG00000229089		0.343	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	ANKRD20A8P	HGNC	pseudogene	OTTHUMT00000451404.1	449	0.00	0	C			95488771	95488771	-1	no_errors	ENST00000432432	ensembl	human	known	69_37n	rna	257	33.85	132	SNP	0.000	G
ANKRD24	170961	genome.wustl.edu	37	19	4200135	4200135	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:4200135C>T	ENST00000600132.1	+	5	586	c.310C>T	c.(310-312)Cat>Tat	p.H104Y	ANKRD24_ENST00000318934.4_Missense_Mutation_p.H104Y|ANKRD24_ENST00000262970.5_Missense_Mutation_p.H194Y	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	104										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		GATGATAGCTCATGGCAGCAA	0.662																																						dbGAP											0													26.0	28.0	27.0					19																	4200135		1967	4146	6113	-	-	-	SO:0001583	missense	0			AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847		"""Ankyrin repeat domain containing"""	29424	protein-coding gene	gene with protein product						11853319	Standard	NM_133475		Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.310C>T	19.37:g.4200135C>T	ENSP00000471252:p.His104Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	O75268|O95781	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.H194Y	ENST00000600132.1	37	c.580	CCDS45925.1	19	.	.	.	.	.	.	.	.	.	.	C	16.81	3.224897	0.58668	.	.	ENSG00000089847	ENST00000318934;ENST00000262970	T;T	0.66280	-0.2;-0.2	4.17	4.17	0.49024	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.64811	0.2632	L	0.37466	1.105	0.39183	D	0.962829	D;D	0.63046	0.992;0.97	P;P	0.56612	0.802;0.782	T	0.69676	-0.5081	9	0.56958	D	0.05	-2.659	13.1832	0.59666	0.0:1.0:0.0:0.0	.	104;194	Q8TF21;Q8TF21-2	ANR24_HUMAN;.	Y	104;194	ENSP00000321731:H104Y;ENSP00000262970:H194Y	ENSP00000262970:H194Y	H	+	1	0	ANKRD24	4151135	1.000000	0.71417	0.089000	0.20774	0.474000	0.32979	6.315000	0.72853	1.854000	0.53819	0.313000	0.20887	CAT	ANKRD24	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000089847		0.662	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANKRD24	HGNC	protein_coding	OTTHUMT00000458188.1	24	0.00	0	C	XM_114000		4200135	4200135	+1	no_errors	ENST00000262970	ensembl	human	known	69_37n	missense	26	31.58	12	SNP	0.989	T
ANKRD26	22852	genome.wustl.edu	37	10	27382679	27382679	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:27382679G>C	ENST00000376087.4	-	2	457	c.292C>G	c.(292-294)Ctc>Gtc	p.L98V	ANKRD26_ENST00000436985.2_Missense_Mutation_p.L98V	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	98					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TCCACCAGGAGAGTTACTACT	0.448																																						dbGAP											0													107.0	104.0	105.0					10																	27382679		1992	4216	6208	-	-	-	SO:0001583	missense	0			AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.292C>G	10.37:g.27382679G>C	ENSP00000365255:p.Leu98Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Polyketide_synth_docking,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.L98V	ENST00000376087.4	37	c.292	CCDS41499.1	10	.	.	.	.	.	.	.	.	.	.	G	19.05	3.751715	0.69533	.	.	ENSG00000107890	ENST00000376087;ENST00000436985	T;T	0.68624	-0.34;-0.34	4.16	3.24	0.37175	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.65943	0.2740	L	0.52759	1.655	0.30092	N	0.808266	P;D	0.53312	0.95;0.959	P;P	0.52066	0.562;0.689	T	0.63839	-0.6546	9	0.66056	D	0.02	.	5.1592	0.15053	0.1069:0.0:0.6876:0.2055	.	98;98	Q9UPS8-3;Q9UPS8	.;ANR26_HUMAN	V	98	ENSP00000365255:L98V;ENSP00000405112:L98V	ENSP00000365255:L98V	L	-	1	0	ANKRD26	27422685	0.094000	0.21725	0.012000	0.15200	0.793000	0.44817	2.017000	0.40981	0.940000	0.37473	0.491000	0.48974	CTC	ANKRD26	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000107890		0.448	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD26	HGNC	protein_coding	OTTHUMT00000047296.1	137	0.00	0	G			27382679	27382679	-1	no_errors	ENST00000436985	ensembl	human	known	69_37n	missense	99	22.66	29	SNP	0.126	C
ANKRD28	23243	genome.wustl.edu	37	3	15756089	15756089	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:15756089C>G	ENST00000399451.2	-	9	1348	c.981G>C	c.(979-981)caG>caC	p.Q327H	ANKRD28_ENST00000383777.1_Missense_Mutation_p.Q360H|ANKRD28_ENST00000497037.1_5'UTR	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	327						nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						TTTTACCACTCTGGATAATGG	0.363																																						dbGAP											0													63.0	61.0	61.0					3																	15756089		1788	4062	5850	-	-	-	SO:0001583	missense	0			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.981G>C	3.37:g.15756089C>G	ENSP00000382379:p.Gln327His	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.Q360H	ENST00000399451.2	37	c.1080	CCDS46769.1	3	.	.	.	.	.	.	.	.	.	.	C	15.91	2.973189	0.53614	.	.	ENSG00000206560	ENST00000399451;ENST00000383777;ENST00000412318	T;T;T	0.54071	2.39;0.59;2.39	5.06	5.06	0.68205	Ankyrin repeat-containing domain (3);	0.056725	0.64402	D	0.000001	T	0.47097	0.1427	L	0.51422	1.61	0.80722	D	1	B;B;B	0.27910	0.162;0.193;0.059	B;B;B	0.27262	0.078;0.053;0.053	T	0.44877	-0.9299	10	0.42905	T	0.14	.	12.6646	0.56835	0.0:0.9129:0.0:0.0871	.	360;357;327	O15084-1;O15084-4;O15084	.;.;ANR28_HUMAN	H	327;360;327	ENSP00000382379:Q327H;ENSP00000373287:Q360H;ENSP00000397341:Q327H	ENSP00000373287:Q360H	Q	-	3	2	ANKRD28	15731093	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.617000	0.36943	2.493000	0.84123	0.561000	0.74099	CAG	ANKRD28	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000206560		0.363	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	ANKRD28	HGNC	protein_coding	OTTHUMT00000339758.1	121	0.00	0	C	NM_015199		15756089	15756089	-1	no_errors	ENST00000383777	ensembl	human	known	69_37n	missense	96	29.93	41	SNP	1.000	G
ANKRD28	23243	genome.wustl.edu	37	3	15765891	15765891	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:15765891C>G	ENST00000399451.2	-	7	1058	c.691G>C	c.(691-693)Gat>Cat	p.D231H	ANKRD28_ENST00000383777.1_Missense_Mutation_p.D264H|ANKRD28_ENST00000497037.1_5'UTR	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	231						nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						ATACCTACATCAACTCCAAGA	0.318																																						dbGAP											0													52.0	48.0	49.0					3																	15765891		1898	4119	6017	-	-	-	SO:0001583	missense	0			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.691G>C	3.37:g.15765891C>G	ENSP00000382379:p.Asp231His	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.D264H	ENST00000399451.2	37	c.790	CCDS46769.1	3	.	.	.	.	.	.	.	.	.	.	C	19.42	3.824416	0.71143	.	.	ENSG00000206560	ENST00000399451;ENST00000383777;ENST00000412318	T;T;T	0.69306	-0.39;-0.39;-0.39	5.68	5.68	0.88126	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.72203	0.3431	M	0.88310	2.945	0.80722	D	1	B;B;P	0.36495	0.162;0.173;0.556	B;B;B	0.28784	0.042;0.019;0.094	T	0.78252	-0.2276	10	0.87932	D	0	.	19.8015	0.96509	0.0:1.0:0.0:0.0	.	264;261;231	O15084-1;O15084-4;O15084	.;.;ANR28_HUMAN	H	231;264;231	ENSP00000382379:D231H;ENSP00000373287:D264H;ENSP00000397341:D231H	ENSP00000373287:D264H	D	-	1	0	ANKRD28	15740895	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.776000	0.85560	2.678000	0.91216	0.650000	0.86243	GAT	ANKRD28	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000206560		0.318	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	ANKRD28	HGNC	protein_coding	OTTHUMT00000339758.1	73	0.00	0	C	NM_015199		15765891	15765891	-1	no_errors	ENST00000383777	ensembl	human	known	69_37n	missense	72	19.10	17	SNP	1.000	G
ANKRD28	23243	genome.wustl.edu	37	3	15836777	15836777	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:15836777C>T	ENST00000399451.2	-	2	431	c.64G>A	c.(64-66)Gat>Aat	p.D22N	ANKRD28_ENST00000383777.1_Missense_Mutation_p.D55N|ANKRD28_ENST00000497037.1_5'UTR	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	22						nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						CGAACTTCATCAGGATCTCCG	0.328																																						dbGAP											0													81.0	83.0	82.0					3																	15836777		1828	4082	5910	-	-	-	SO:0001583	missense	0			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.64G>A	3.37:g.15836777C>T	ENSP00000382379:p.Asp22Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.D55N	ENST00000399451.2	37	c.163	CCDS46769.1	3	.	.	.	.	.	.	.	.	.	.	C	34	5.392381	0.96009	.	.	ENSG00000206560	ENST00000399451;ENST00000383777;ENST00000412318	T;T;T	0.18657	2.2;2.2;2.2	5.53	5.53	0.82687	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.40522	0.1120	L	0.53249	1.67	0.80722	D	1	P;B;P	0.52061	0.949;0.165;0.95	P;B;P	0.58928	0.848;0.137;0.821	T	0.03403	-1.1040	10	0.44086	T	0.13	.	19.4594	0.94910	0.0:1.0:0.0:0.0	.	55;52;22	O15084-1;O15084-4;O15084	.;.;ANR28_HUMAN	N	22;55;22	ENSP00000382379:D22N;ENSP00000373287:D55N;ENSP00000397341:D22N	ENSP00000373287:D55N	D	-	1	0	ANKRD28	15811781	1.000000	0.71417	0.998000	0.56505	0.889000	0.51656	6.679000	0.74513	2.585000	0.87301	0.585000	0.79938	GAT	ANKRD28	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000206560		0.328	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	ANKRD28	HGNC	protein_coding	OTTHUMT00000339758.1	87	0.00	0	C	NM_015199		15836777	15836777	-1	no_errors	ENST00000383777	ensembl	human	known	69_37n	missense	98	13.27	15	SNP	1.000	T
ANKRD31	256006	genome.wustl.edu	37	5	74408344	74408344	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:74408344C>A	ENST00000274361.3	-	19	4257	c.4066G>T	c.(4066-4068)Gat>Tat	p.D1356Y	ANKRD31_ENST00000506364.2_Missense_Mutation_p.D1413Y|ANKRD31_ENST00000504022.1_5'UTR	NM_001164443.1	NP_001157915.1	Q8N7Z5	ANR31_HUMAN	ankyrin repeat domain 31	1356										endometrium(1)|kidney(4)	5						TTACCTGCATCTTCAGGGTTT	0.313																																						dbGAP											0													229.0	194.0	204.0					5																	74408344		692	1590	2282	-	-	-	SO:0001583	missense	0			AK097510	CCDS47233.1	5q13.3	2013-01-10			ENSG00000145700	ENSG00000145700		"""Ankyrin repeat domain containing"""	26853	protein-coding gene	gene with protein product							Standard	NM_001164443		Approved	FLJ40191	uc003kdo.2	Q8N7Z5	OTTHUMG00000162649	ENST00000274361.3:c.4066G>T	5.37:g.74408344C>A	ENSP00000274361:p.Asp1356Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.D1356Y	ENST00000274361.3	37	c.4066		5	.	.	.	.	.	.	.	.	.	.	C	17.89	3.499381	0.64298	.	.	ENSG00000145700	ENST00000274361	T	0.64085	-0.08	5.4	4.52	0.55395	.	.	.	.	.	T	0.74543	0.3730	M	0.71581	2.175	0.39798	D	0.972531	.	.	.	.	.	.	T	0.79374	-0.1830	7	0.66056	D	0.02	.	16.1387	0.81509	0.0:0.8661:0.1339:0.0	.	.	.	.	Y	1356	ENSP00000274361:D1356Y	ENSP00000274361:D1356Y	D	-	1	0	ANKRD31	74444100	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.447000	0.52936	1.391000	0.46566	0.655000	0.94253	GAT	ANKRD31	-	NULL	ENSG00000145700		0.313	ANKRD31-201	KNOWN	basic|appris_principal	protein_coding	ANKRD31	HGNC	protein_coding		236	0.00	0	C	NM_001164443		74408344	74408344	-1	no_errors	ENST00000274361	ensembl	human	known	69_37n	missense	167	21.96	47	SNP	1.000	A
ANKRD31	256006	genome.wustl.edu	37	5	74442046	74442046	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:74442046C>T	ENST00000274361.3	-	14	3381	c.3190G>A	c.(3190-3192)Gag>Aag	p.E1064K	ANKRD31_ENST00000506364.2_Missense_Mutation_p.E1064K|ANKRD31_ENST00000504022.1_Intron	NM_001164443.1	NP_001157915.1	Q8N7Z5	ANR31_HUMAN	ankyrin repeat domain 31	1064										endometrium(1)|kidney(4)	5						TAATTCCTCTCAGTGTCACAA	0.318																																						dbGAP											0													91.0	71.0	77.0					5																	74442046		692	1590	2282	-	-	-	SO:0001583	missense	0			AK097510	CCDS47233.1	5q13.3	2013-01-10			ENSG00000145700	ENSG00000145700		"""Ankyrin repeat domain containing"""	26853	protein-coding gene	gene with protein product							Standard	NM_001164443		Approved	FLJ40191	uc003kdo.2	Q8N7Z5	OTTHUMG00000162649	ENST00000274361.3:c.3190G>A	5.37:g.74442046C>T	ENSP00000274361:p.Glu1064Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E1064K	ENST00000274361.3	37	c.3190		5	.	.	.	.	.	.	.	.	.	.	C	5.806	0.332996	0.11013	.	.	ENSG00000145700	ENST00000274361	T	0.59906	0.23	5.14	-10.3	0.00346	.	.	.	.	.	T	0.27663	0.0680	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.37731	-0.9693	7	0.07325	T	0.83	.	13.8803	0.63678	0.0:0.5881:0.2889:0.123	.	.	.	.	K	1064	ENSP00000274361:E1064K	ENSP00000274361:E1064K	E	-	1	0	ANKRD31	74477802	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.494000	0.02296	-2.516000	0.00500	-0.469000	0.05056	GAG	ANKRD31	-	superfamily_Ankyrin_rpt-contain_dom	ENSG00000145700		0.318	ANKRD31-201	KNOWN	basic|appris_principal	protein_coding	ANKRD31	HGNC	protein_coding		109	0.91	1	C	NM_001164443		74442046	74442046	-1	no_errors	ENST00000274361	ensembl	human	known	69_37n	missense	56	26.32	20	SNP	0.000	T
ANKRD34C	390616	genome.wustl.edu	37	15	79586995	79586995	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:79586995C>T	ENST00000558647.2	+	1	1369	c.1369C>T	c.(1369-1371)Cac>Tac	p.H457Y	ANKRD34C_ENST00000421388.2_Missense_Mutation_p.H457Y			P0C6C1	AN34C_HUMAN	ankyrin repeat domain 34C	457										endometrium(3)|kidney(1)|skin(1)	5						TCGCATTTCTCACACTAGGCC	0.527																																						dbGAP											0													123.0	108.0	112.0					15																	79586995		685	1584	2269	-	-	-	SO:0001583	missense	0				CCDS53965.1	15q25.1	2013-01-10			ENSG00000235711	ENSG00000235711		"""Ankyrin repeat domain containing"""	33888	protein-coding gene	gene with protein product							Standard	NM_001146341		Approved		uc002bet.3	P0C6C1		ENST00000558647.2:c.1369C>T	15.37:g.79586995C>T	ENSP00000454921:p.His457Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	H3BNM1	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.H457Y	ENST00000558647.2	37	c.1369	CCDS53965.1	15	.	.	.	.	.	.	.	.	.	.	C	10.98	1.505422	0.26949	.	.	ENSG00000235711	ENST00000421388	T	0.18960	2.18	4.72	4.72	0.59763	.	.	.	.	.	T	0.24812	0.0602	M	0.65498	2.005	0.41231	D	0.986574	P	0.42123	0.771	B	0.36504	0.226	T	0.15350	-1.0440	9	0.72032	D	0.01	.	15.2172	0.73277	0.0:1.0:0.0:0.0	.	457	P0C6C1	AN34C_HUMAN	Y	457	ENSP00000401089:H457Y	ENSP00000401089:H457Y	H	+	1	0	ANKRD34C	77374050	1.000000	0.71417	0.016000	0.15963	0.005000	0.04900	5.507000	0.66999	2.428000	0.82296	0.655000	0.94253	CAC	ANKRD34C	-	NULL	ENSG00000235711		0.527	ANKRD34C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD34C	HGNC	protein_coding	OTTHUMT00000416713.2	100	0.00	0	C	NM_001146341		79586995	79586995	+1	no_errors	ENST00000421388	ensembl	human	known	69_37n	missense	77	17.20	16	SNP	0.997	T
ANKRD36BP2	645784	genome.wustl.edu	37	2	89087843	89087843	+	RNA	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:89087843G>C	ENST00000393525.3	+	0	922									ankyrin repeat domain 36B pseudogene 2																		AGAGTATCCTGAGAATCTGCC	0.313																																						dbGAP											0																																										-	-	-			0					2q11.2	2010-09-30			ENSG00000230006	ENSG00000230006			33607	pseudogene	pseudogene							Standard	NR_015424		Approved		uc010fhg.4		OTTHUMG00000151690		2.37:g.89087843G>C		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000393525.3	37	NULL		2																																																																																			ANKRD36BP2	-	-	ENSG00000230006		0.313	ANKRD36BP2-003	KNOWN	basic	processed_transcript	ANKRD36BP2	HGNC	pseudogene	OTTHUMT00000323523.1	152	0.00	0	G			89087843	89087843	+1	no_errors	ENST00000393515	ensembl	human	known	69_37n	rna	126	11.89	17	SNP	0.001	C
ANKRD36C	400986	genome.wustl.edu	37	2	96521596	96521596	+	Silent	SNP	C	C	T	rs151242024		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:96521596C>T	ENST00000456556.1	-	63	4497	c.4413G>A	c.(4411-4413)ctG>ctA	p.L1471L	ANKRD36C_ENST00000419039.2_Silent_p.L498L|ANKRD36C_ENST00000420871.2_Silent_p.L722L			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	1471							ion channel inhibitor activity (GO:0008200)			breast(1)|endometrium(8)|kidney(5)|lung(4)	18						GAGCAGCATTCAGTCTACAAC	0.428																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0			AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.4413G>A	2.37:g.96521596C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JZ08|Q15694|Q53S06|Q658V2	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L1471	ENST00000456556.1	37	c.4413		2																																																																																			ANKRD36C	-	NULL	ENSG00000174501		0.428	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	ANKRD36C	HGNC	protein_coding	OTTHUMT00000338799.2	140	0.00	0	C	NM_001010914		96521596	96521596	-1	no_errors	ENST00000456556	ensembl	human	known	69_37n	silent	137	19.41	33	SNP	0.885	T
ANKRD36B	57730	genome.wustl.edu	37	2	98196932	98196932	+	RNA	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:98196932G>A	ENST00000443455.1	-	0	728							Q8N2N9	AN36B_HUMAN	ankyrin repeat domain 36B																		TACCTGCCAAGATAATCAATG	0.333																																						dbGAP											0													121.0	95.0	103.0					2																	98196932		692	1587	2279	-	-	-			0			AK024934	CCDS74543.1	2q11.2	2013-01-11	2008-03-25	2008-03-25	ENSG00000196912	ENSG00000196912		"""Ankyrin repeat domain containing"""	29333	protein-coding gene	gene with protein product	"""melanoma-associated antigen"", ""CLL-associated antigen KW-1"""		"""KIAA1641"""	KIAA1641		10997877	Standard	NM_025190		Approved	FLJ21281	uc010yvc.1	Q8N2N9	OTTHUMG00000130547		2.37:g.98196932G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q08AK5|Q6IPR0|Q6PI49|Q8IZM7|Q8TDH6|Q96N30|Q9H759	RNA	SNP	-	NULL	ENST00000443455.1	37	NULL		2																																																																																			ANKRD36B	-	-	ENSG00000196912		0.333	ANKRD36B-003	KNOWN	basic	processed_transcript	ANKRD36B	HGNC	pseudogene	OTTHUMT00000328967.2	194	0.00	0	G	NM_025190		98196932	98196932	-1	no_errors	ENST00000443455	ensembl	human	known	69_37n	rna	188	18.26	42	SNP	0.000	A
ANKRD44	91526	genome.wustl.edu	37	2	197990733	197990733	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:197990733G>A	ENST00000328737.2	-	5	291	c.215C>T	c.(214-216)tCa>tTa	p.S72L	ANKRD44_ENST00000450567.1_Missense_Mutation_p.S72L|ANKRD44_ENST00000282272.8_Missense_Mutation_p.S89L|ANKRD44_ENST00000337207.5_Missense_Mutation_p.S72L|ANKRD44_ENST00000409153.1_Missense_Mutation_p.S97L|ANKRD44_ENST00000539527.1_Missense_Mutation_p.S25L|ANKRD44_ENST00000409919.1_Missense_Mutation_p.S97L			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	97										NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GACATCAGCTGAGTGCTTAAT	0.468																																						dbGAP											0													151.0	142.0	145.0					2																	197990733		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.215C>T	2.37:g.197990733G>A	ENSP00000331516:p.Ser72Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.S72L	ENST00000328737.2	37	c.215		2	.	.	.	.	.	.	.	.	.	.	G	35	5.588473	0.96590	.	.	ENSG00000065413	ENST00000282272;ENST00000328737;ENST00000450567;ENST00000337207;ENST00000409153;ENST00000539527;ENST00000409919;ENST00000443014	T;T;T;T;T;T;T;T	0.65549	1.52;-0.16;-0.16;-0.16;-0.16;1.95;-0.16;-0.16	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.76528	0.4000	L	0.52905	1.665	0.80722	D	1	P;D	0.63046	0.864;0.992	P;D	0.71656	0.572;0.974	T	0.77070	-0.2724	10	0.72032	D	0.01	.	19.5125	0.95148	0.0:0.0:1.0:0.0	.	25;97	F5H682;Q8N8A2-3	.;.	L	89;72;72;72;97;25;97;72	ENSP00000282272:S89L;ENSP00000331516:S72L;ENSP00000402420:S72L;ENSP00000338794:S72L;ENSP00000387141:S97L;ENSP00000437825:S25L;ENSP00000387233:S97L;ENSP00000399895:S72L	ENSP00000282272:S89L	S	-	2	0	ANKRD44	197698978	1.000000	0.71417	0.998000	0.56505	0.944000	0.59088	7.625000	0.83145	2.840000	0.97914	0.655000	0.94253	TCA	ANKRD44	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000065413		0.468	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	ANKRD44	HGNC	protein_coding	OTTHUMT00000335113.1	96	0.00	0	G	NM_153697		197990733	197990733	-1	no_errors	ENST00000328737	ensembl	human	known	69_37n	missense	77	13.48	12	SNP	1.000	A
ANKRD46	157567	genome.wustl.edu	37	8	101542040	101542040	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:101542040C>T	ENST00000520552.1	-	3	183	c.22G>A	c.(22-24)Gat>Aat	p.D8N	ANKRD46_ENST00000519597.1_Missense_Mutation_p.D8N|ANKRD46_ENST00000520311.1_Missense_Mutation_p.D8N|ANKRD46_ENST00000335659.3_Missense_Mutation_p.D8N|ANKRD46_ENST00000519316.1_Missense_Mutation_p.D8N	NM_001270379.1	NP_001257308.1	Q86W74	ANR46_HUMAN	ankyrin repeat domain 46	8						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(4)	7	all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998)		Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957)			TGAGAAGAATCATTTACAAAA	0.408																																						dbGAP											0													53.0	50.0	51.0					8																	101542040		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB077205	CCDS6287.1, CCDS59109.1	8q22.3	2013-01-10						"""Ankyrin repeat domain containing"""	27229	protein-coding gene	gene with protein product							Standard	NM_001270377		Approved		uc003yjm.4	Q86W74		ENST00000520552.1:c.22G>A	8.37:g.101542040C>T	ENSP00000429015:p.Asp8Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P9B7	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.D8N	ENST00000520552.1	37	c.22	CCDS59109.1	8	.	.	.	.	.	.	.	.	.	.	C	35	5.444335	0.96187	.	.	ENSG00000186106	ENST00000520552;ENST00000335659;ENST00000519597;ENST00000520311;ENST00000519316;ENST00000358990;ENST00000524072;ENST00000523000;ENST00000521345	T;T;T;T;T;T;T;T;T	0.59083	0.77;0.82;0.82;0.82;1.02;0.81;0.43;0.29;1.33	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.70254	0.3203	L	0.41824	1.3	0.80722	D	1	D;D	0.63880	0.988;0.993	P;D	0.70935	0.908;0.971	T	0.69239	-0.5197	10	0.52906	T	0.07	-1.2848	20.0124	0.97464	0.0:1.0:0.0:0.0	.	8;8	Q86W74-2;Q86W74	.;ANR46_HUMAN	N	8	ENSP00000429015:D8N;ENSP00000335287:D8N;ENSP00000430056:D8N;ENSP00000428388:D8N;ENSP00000430827:D8N;ENSP00000351881:D8N;ENSP00000430357:D8N;ENSP00000430800:D8N;ENSP00000429647:D8N	ENSP00000335287:D8N	D	-	1	0	ANKRD46	101611216	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	7.309000	0.78937	2.749000	0.94314	0.655000	0.94253	GAT	ANKRD46	-	NULL	ENSG00000186106		0.408	ANKRD46-004	KNOWN	basic|CCDS	protein_coding	ANKRD46	HGNC	protein_coding	OTTHUMT00000379899.1	28	0.00	0	C	NM_198401		101542040	101542040	-1	no_errors	ENST00000520552	ensembl	human	known	69_37n	missense	21	59.62	31	SNP	1.000	T
ANKEF1	63926	genome.wustl.edu	37	20	10019148	10019148	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:10019148C>T	ENST00000378380.3	+	2	528	c.199C>T	c.(199-201)Ctc>Ttc	p.L67F	SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000378392.1_Missense_Mutation_p.L67F|SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000488991.1_3'UTR	NM_198798.1	NP_942093.1	Q9NU02	ANKE1_HUMAN	ankyrin repeat and EF-hand domain containing 1	67							calcium ion binding (GO:0005509)										GGTCAGCTTTCTCCTTGACCT	0.443																																						dbGAP											0													120.0	106.0	111.0					20																	10019148		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK025322	CCDS13108.1	20p12.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000132623	ENSG00000132623		"""EF-hand domain containing"", ""Ankyrin repeat domain containing"""	15803	protein-coding gene	gene with protein product			"""ankyrin repeat domain 5"""	ANKRD5		17142250	Standard	NM_022096		Approved	FLJ21669, dJ839B4.6	uc002wnp.3	Q9NU02	OTTHUMG00000031860	ENST00000378380.3:c.199C>T	20.37:g.10019148C>T	ENSP00000367631:p.Leu67Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KUQ0|Q9H6Y9	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EF_HAND_2,prints_Ankyrin_rpt	p.L67F	ENST00000378380.3	37	c.199	CCDS13108.1	20	.	.	.	.	.	.	.	.	.	.	C	20.6	4.017519	0.75161	.	.	ENSG00000132623	ENST00000378392;ENST00000378380	D;D	0.84070	-1.8;-1.8	5.93	5.93	0.95920	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.91043	0.7182	M	0.84433	2.695	0.58432	D	0.999991	D	0.89917	1.0	D	0.91635	0.999	D	0.91202	0.4992	9	.	.	.	-15.3806	11.6275	0.51153	0.0:0.8631:0.0:0.1369	.	67	Q9NU02	ANKR5_HUMAN	F	67	ENSP00000367644:L67F;ENSP00000367631:L67F	.	L	+	1	0	ANKRD5	9967148	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.372000	0.44257	2.803000	0.96430	0.650000	0.86243	CTC	ANKRD5	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000132623		0.443	ANKEF1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ANKRD5	HGNC	protein_coding	OTTHUMT00000077968.2	68	0.00	0	C	NM_022096		10019148	10019148	+1	no_errors	ENST00000378380	ensembl	human	known	69_37n	missense	87	20.18	22	SNP	1.000	T
ANKRD52	283373	genome.wustl.edu	37	12	56647896	56647896	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:56647896G>A	ENST00000267116.7	-	8	982	c.861C>T	c.(859-861)ctC>ctT	p.L287L		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	287										endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						GCTCCAAGCAGAGAGCGCCAT	0.547																																						dbGAP											0													72.0	82.0	78.0					12																	56647896		2039	4191	6230	-	-	-	SO:0001819	synonymous_variant	0			AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	26614	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit C"""						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.861C>T	12.37:g.56647896G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NE79|B1Q2K2	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.L287	ENST00000267116.7	37	c.861	CCDS44920.1	12																																																																																			ANKRD52	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000139645		0.547	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD52	HGNC	protein_coding	OTTHUMT00000408539.1	45	0.00	0	G	NM_173595		56647896	56647896	-1	no_errors	ENST00000267116	ensembl	human	known	69_37n	silent	56	16.18	11	SNP	0.994	A
ANKS1A	23294	genome.wustl.edu	37	6	34950895	34950895	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:34950895G>C	ENST00000360359.3	+	6	952	c.814G>C	c.(814-816)Gac>Cac	p.D272H	ANKS1A_ENST00000535627.1_Missense_Mutation_p.D272H	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	272					ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TCTAGGAACTGACGTCAACAT	0.463																																						dbGAP											0													195.0	198.0	197.0					6																	34950895		2203	4300	6503	-	-	-	SO:0001583	missense	0			D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20961	protein-coding gene	gene with protein product		608994	"""ankyrin repeat and SAM domain containing 1"", ""ankyrin repeat and sterile alpha motif domain containing 1"""	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.814G>C	6.37:g.34950895G>C	ENSP00000353518:p.Asp272His	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTyr_interaction_dom,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTyr_interaction_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTyr_interaction_dom,pfscan_SAM,prints_Ankyrin_rpt	p.D272H	ENST00000360359.3	37	c.814	CCDS4798.1	6	.	.	.	.	.	.	.	.	.	.	G	16.96	3.265007	0.59431	.	.	ENSG00000064999	ENST00000544150;ENST00000360359;ENST00000535627	T;T	0.60672	0.17;0.17	5.69	5.69	0.88448	Ankyrin repeat-containing domain (3);	0.000000	0.49916	D	0.000134	T	0.79064	0.4383	M	0.91140	3.18	0.50313	D	0.99986	D;D	0.89917	1.0;1.0	D;D	0.87578	0.975;0.998	T	0.82444	-0.0454	10	0.59425	D	0.04	-17.2792	18.0004	0.89196	0.0:0.0:1.0:0.0	.	272;272	B4DQW8;Q92625	.;ANS1A_HUMAN	H	272	ENSP00000353518:D272H;ENSP00000438752:D272H	ENSP00000353518:D272H	D	+	1	0	ANKS1A	35058873	1.000000	0.71417	0.999000	0.59377	0.810000	0.45777	6.662000	0.74426	2.677000	0.91161	0.655000	0.94253	GAC	ANKS1A	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	ENSG00000064999		0.463	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKS1A	HGNC	protein_coding	OTTHUMT00000040262.1	96	0.00	0	G	XM_166478		34950895	34950895	+1	no_errors	ENST00000360359	ensembl	human	known	69_37n	missense	75	17.58	16	SNP	1.000	C
ANKZF1	55139	genome.wustl.edu	37	2	220098854	220098854	+	Splice_Site	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:220098854G>A	ENST00000323348.5	+	9	1222		c.e9-1		ANKZF1_ENST00000410034.3_Splice_Site|ANKZF1_ENST00000409849.1_Splice_Site|GLB1L_ENST00000497855.1_5'Flank	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1							membrane (GO:0016020)	metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTTTATGGCAGAAGAAGACCC	0.463																																						dbGAP											0													41.0	40.0	41.0					2																	220098854		1879	4115	5994	-	-	-	SO:0001630	splice_region_variant	0			AF364318	CCDS42821.1, CCDS63129.1	2q35	2013-01-10			ENSG00000163516	ENSG00000163516		"""Zinc fingers, C2H2-type"", ""Ankyrin repeat domain containing"""	25527	protein-coding gene	gene with protein product						12477932	Standard	NM_018089		Approved	FLJ10415, ZNF744	uc002vkg.3	Q9H8Y5	OTTHUMG00000154533	ENST00000323348.5:c.1049-1G>A	2.37:g.220098854G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NVZ4	Splice_Site	SNP	-	e8-1	ENST00000323348.5	37	c.1049-1	CCDS42821.1	2	.	.	.	.	.	.	.	.	.	.	G	9.041	0.989732	0.18966	.	.	ENSG00000163516	ENST00000323348;ENST00000409849;ENST00000410034	.	.	.	4.72	4.72	0.59763	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.069	0.59050	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ANKZF1	219807098	1.000000	0.71417	0.998000	0.56505	0.233000	0.25261	4.455000	0.60075	2.439000	0.82584	0.655000	0.94253	.	ANKZF1	-	-	ENSG00000163516		0.463	ANKZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKZF1	HGNC	protein_coding	OTTHUMT00000335790.1	34	0.00	0	G	NM_018089	Intron	220098854	220098854	+1	no_errors	ENST00000323348	ensembl	human	known	69_37n	splice_site	47	17.54	10	SNP	1.000	A
ANO1	55107	genome.wustl.edu	37	11	69978136	69978136	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:69978136C>G	ENST00000355303.5	+	11	1514	c.1209C>G	c.(1207-1209)ctC>ctG	p.L403L	ANO1_ENST00000531349.1_Silent_p.L138L|ANO1_ENST00000538023.1_Silent_p.L403L|RP11-805J14.3_ENST00000530525.1_RNA|ANO1_ENST00000316296.5_Silent_p.L375L|ANO1_ENST00000398543.2_Silent_p.L287L|ANO1_ENST00000530676.1_Silent_p.L287L	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	403					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	CCAGCCACCTCTTCGACAACC	0.597																																						dbGAP											0													27.0	36.0	33.0					11																	69978136		2111	4228	6339	-	-	-	SO:0001819	synonymous_variant	0			BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	21625	protein-coding gene	gene with protein product		610108	"""oral cancer overexpressed 2"", ""transmembrane protein 16A"""	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.1209C>G	11.37:g.69978136C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAM3|Q8IYY8|Q8N7V3	Missense_Mutation	SNP	pfam_Anoctamin	p.S268C	ENST00000355303.5	37	c.803	CCDS44663.1	11	.	.	.	.	.	.	.	.	.	.	C	9.738	1.164221	0.21538	.	.	ENSG00000131620	ENST00000530480	.	.	.	4.62	2.71	0.32032	.	.	.	.	.	T	0.57066	0.2028	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49234	-0.8961	4	.	.	.	.	7.903	0.29746	0.0:0.7012:0.1413:0.1575	.	.	.	.	C	268	.	.	S	+	2	0	ANO1	69655784	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.994000	0.29693	0.389000	0.25086	0.555000	0.69702	TCT	ANO1	-	NULL	ENSG00000131620		0.597	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANO1	HGNC	protein_coding	OTTHUMT00000393685.1	77	0.00	0	C	NM_018043		69978136	69978136	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000530480	ensembl	human	novel	69_37n	missense	296	11.38	38	SNP	1.000	G
ANO2	57101	genome.wustl.edu	37	12	6031933	6031933	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:6031933G>T	ENST00000356134.5	-	2	119	c.48C>A	c.(46-48)agC>agA	p.S16R	ANO2_ENST00000327087.8_Missense_Mutation_p.S16R|ANO2_ENST00000546188.1_Missense_Mutation_p.S16R	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	20					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CTGCCTGAGGGCTCAGCCGGC	0.622																																						dbGAP											0													24.0	28.0	26.0					12																	6031933		1895	4104	5999	-	-	-	SO:0001583	missense	0			AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.48C>A	12.37:g.6031933G>T	ENSP00000348453:p.Ser16Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	C4N787|Q9H847	Missense_Mutation	SNP	pfam_Anoctamin	p.S16R	ENST00000356134.5	37	c.48		12	.	.	.	.	.	.	.	.	.	.	G	13.39	2.221967	0.39300	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277	T;T;T	0.70164	-0.46;-0.46;-0.46	4.36	1.2	0.21068	.	0.151709	0.31279	N	0.007932	T	0.52597	0.1744	L	0.36672	1.1	0.25774	N	0.9848	P	0.40794	0.729	B	0.41988	0.372	T	0.48007	-0.9072	10	0.59425	D	0.04	.	5.2379	0.15456	0.416:0.0:0.584:0.0	.	16	Q9NQ90-3	.	R	16;16;16;20	ENSP00000314048:S16R;ENSP00000348453:S16R;ENSP00000440981:S16R	ENSP00000314048:S16R	S	-	3	2	ANO2	5902194	1.000000	0.71417	0.986000	0.45419	0.743000	0.42351	0.497000	0.22514	0.456000	0.26937	0.561000	0.74099	AGC	ANO2	-	NULL	ENSG00000047617		0.622	ANO2-001	KNOWN	basic	protein_coding	ANO2	HGNC	protein_coding	OTTHUMT00000399019.4	27	0.00	0	G	NM_020373		6031933	6031933	-1	no_errors	ENST00000356134	ensembl	human	known	69_37n	missense	17	30.77	8	SNP	0.930	T
ANO6	196527	genome.wustl.edu	37	12	45761484	45761484	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:45761484C>T	ENST00000320560.8	+	9	1214	c.1012C>T	c.(1012-1014)Cat>Tat	p.H338Y	ANO6_ENST00000423947.3_Missense_Mutation_p.H359Y|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000441606.2_Missense_Mutation_p.H320Y|ANO6_ENST00000425752.2_Missense_Mutation_p.H338Y|ANO6_ENST00000435642.1_Missense_Mutation_p.H338Y	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	338					activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						AGAAGTTTGTCATCCTGATAT	0.308																																						dbGAP											0													130.0	118.0	122.0					12																	45761484		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25240	protein-coding gene	gene with protein product		608663	"""transmembrane protein 16F"""	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000320560.8:c.1012C>T	12.37:g.45761484C>T	ENSP00000320087:p.His338Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Missense_Mutation	SNP	pfam_Anoctamin	p.H338Y	ENST00000320560.8	37	c.1012	CCDS31782.1	12	.	.	.	.	.	.	.	.	.	.	C	14.65	2.599332	0.46318	.	.	ENSG00000177119	ENST00000425752;ENST00000423947;ENST00000435642;ENST00000320560;ENST00000441606	T;T;T;T;T	0.70045	-0.45;-0.33;-0.45;-0.33;-0.33	4.92	-9.83	0.00482	.	0.718142	0.13948	N	0.351737	T	0.41534	0.1163	N	0.24115	0.695	0.24087	N	0.995925	B;B;P;B	0.43750	0.192;0.224;0.816;0.159	B;B;B;B	0.38156	0.067;0.067;0.266;0.053	T	0.57242	-0.7845	10	0.72032	D	0.01	.	9.3159	0.37934	0.3462:0.4164:0.2374:0.0	.	320;359;338;338	E9PB30;B9EGG0;E9PCT2;Q4KMQ2	.;.;.;ANO6_HUMAN	Y	338;359;338;338;320	ENSP00000391417:H338Y;ENSP00000409126:H359Y;ENSP00000413840:H338Y;ENSP00000320087:H338Y;ENSP00000413137:H320Y	ENSP00000320087:H338Y	H	+	1	0	ANO6	44047751	0.851000	0.29673	0.029000	0.17559	0.992000	0.81027	-0.202000	0.09451	-2.885000	0.00317	-0.274000	0.10170	CAT	ANO6	-	pfam_Anoctamin	ENSG00000177119		0.308	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANO6	HGNC	protein_coding	OTTHUMT00000404822.1	104	0.00	0	C	XM_113743		45761484	45761484	+1	no_errors	ENST00000425752	ensembl	human	known	69_37n	missense	80	32.20	38	SNP	0.911	T
ANO4	121601	genome.wustl.edu	37	12	101493408	101493408	+	Missense_Mutation	SNP	G	G	C	rs370881866		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:101493408G>C	ENST00000392977.3	+	22	2269	c.2059G>C	c.(2059-2061)Gaa>Caa	p.E687Q	ANO4_ENST00000392979.3_Missense_Mutation_p.E652Q|ANO4_ENST00000299222.9_Missense_Mutation_p.E207Q|ANO4_ENST00000550015.1_Missense_Mutation_p.E207Q			Q32M45	ANO4_HUMAN	anoctamin 4	687					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						ACATGGACCTGAAAGGAAAAT	0.358										HNSCC(74;0.22)																												dbGAP											0													107.0	108.0	108.0					12																	101493408		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.2059G>C	12.37:g.101493408G>C	ENSP00000376703:p.Glu687Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	pfam_Anoctamin	p.E687Q	ENST00000392977.3	37	c.2059		12	.	.	.	.	.	.	.	.	.	.	G	14.03	2.415081	0.42817	.	.	ENSG00000151572	ENST00000392979;ENST00000299222;ENST00000392977;ENST00000550015	T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04	5.8	3.89	0.44902	.	0.212089	0.40064	N	0.001188	T	0.49389	0.1554	L	0.33624	1.015	0.42382	D	0.992492	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.14023	0.004;0.002;0.01	T	0.42207	-0.9465	10	0.15952	T	0.53	.	14.6054	0.68475	0.0:0.5702:0.4298:0.0	.	207;687;652	Q32M45-3;Q32M45;Q32M45-2	.;ANO4_HUMAN;.	Q	652;207;687;207	ENSP00000376705:E652Q;ENSP00000299222:E207Q;ENSP00000376703:E687Q;ENSP00000450192:E207Q	ENSP00000299222:E207Q	E	+	1	0	ANO4	100017539	0.998000	0.40836	0.976000	0.42696	0.944000	0.59088	4.058000	0.57463	1.406000	0.46857	0.650000	0.86243	GAA	ANO4	-	pfam_Anoctamin	ENSG00000151572		0.358	ANO4-002	KNOWN	basic	protein_coding	ANO4	HGNC	protein_coding	OTTHUMT00000409295.1	108	0.00	0	G	NM_178826		101493408	101493408	+1	no_errors	ENST00000392977	ensembl	human	known	69_37n	missense	67	34.95	36	SNP	0.979	C
ANXA7	310	genome.wustl.edu	37	10	75147489	75147489	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:75147489C>T	ENST00000372921.5	-	7	647	c.591G>A	c.(589-591)caG>caA	p.Q197Q	ANXA7_ENST00000492380.1_5'UTR|ANXA7_ENST00000535178.1_Silent_p.Q67Q	NM_001156.3	NP_001147.1	P20073	ANXA7_HUMAN	annexin A7	219					autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular calcium ion homeostasis (GO:0006874)|cellular water homeostasis (GO:0009992)|epithelial cell differentiation (GO:0030855)|hemostasis (GO:0007599)|membrane fusion (GO:0061025)|negative regulation of gene expression (GO:0010629)|regulation of cell shape (GO:0008360)|response to calcium ion (GO:0051592)|response to organic cyclic compound (GO:0014070)|response to salt stress (GO:0009651)|social behavior (GO:0035176)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|integrin binding (GO:0005178)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26	Prostate(51;0.0119)					TTTTTTGCCTCTGATCATTGG	0.453																																						dbGAP											0													231.0	217.0	222.0					10																	75147489		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			J04543	CCDS7325.1, CCDS7326.1	10q22.2	2005-11-09			ENSG00000138279	ENSG00000138279		"""Annexins"""	545	protein-coding gene	gene with protein product		186360		ANX7		7515686	Standard	NM_001156		Approved		uc001jtz.2	P20073	OTTHUMG00000018463	ENST00000372921.5:c.591G>A	10.37:g.75147489C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5F2H3|Q5T0M6|Q5T0M7	Silent	SNP	pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinVII,prints_AnnexinIV	p.Q219	ENST00000372921.5	37	c.657	CCDS7325.1	10																																																																																			ANXA7	-	pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinIV	ENSG00000138279		0.453	ANXA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANXA7	HGNC	protein_coding	OTTHUMT00000048646.2	191	0.00	0	C	NM_001156		75147489	75147489	-1	no_errors	ENST00000372919	ensembl	human	known	69_37n	silent	76	36.67	44	SNP	1.000	T
AP1G1	164	genome.wustl.edu	37	16	71808376	71808376	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:71808376G>C	ENST00000299980.4	-	3	762	c.321C>G	c.(319-321)atC>atG	p.I107M	AP1G1_ENST00000569748.1_Missense_Mutation_p.I107M|AP1G1_ENST00000393512.3_Missense_Mutation_p.I107M|AP1G1_ENST00000433195.2_Missense_Mutation_p.I130M|AP1G1_ENST00000423132.2_Missense_Mutation_p.I107M	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	107					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|Golgi to lysosome transport (GO:0090160)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network membrane (GO:0032588)	GTP-dependent protein binding (GO:0030742)|kinesin binding (GO:0019894)|protein transporter activity (GO:0008565)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				CTTACTTCTTGATACAGTTGG	0.378																																						dbGAP											0													143.0	140.0	141.0					16																	71808376		2198	4300	6498	-	-	-	SO:0001583	missense	0			Y12226	CCDS32480.1, CCDS45522.1	16q23	2009-08-03				ENSG00000166747			555	protein-coding gene	gene with protein product	"""gamma1-adaptin"""	603533		CLAPG1, ADTG		9653655, 9733768	Standard	NM_001128		Approved		uc010cgg.3	O43747		ENST00000299980.4:c.321C>G	16.37:g.71808376G>C	ENSP00000299980:p.Ile107Met	Somatic		WXS	Illumina GAIIx	Phase_IV	O75709|O75842|Q9UG09|Q9Y3U4	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP1_complex_gsu,pfscan_Clathrin_g-adaptin_app	p.I130M	ENST00000299980.4	37	c.390	CCDS32480.1	16	.	.	.	.	.	.	.	.	.	.	G	13.32	2.200813	0.38905	.	.	ENSG00000166747	ENST00000299980;ENST00000393512;ENST00000423132;ENST00000433195;ENST00000425422;ENST00000450149	T;T;T;T;T	0.14893	2.47;2.47;2.47;2.47;2.47	4.72	3.76	0.43208	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.049906	0.85682	D	0.000000	T	0.13586	0.0329	L	0.28400	0.85	0.51767	D	0.999936	B;B;B;B	0.23990	0.095;0.009;0.027;0.003	B;B;B;B	0.29077	0.064;0.082;0.098;0.01	T	0.06607	-1.0817	10	0.49607	T	0.09	-3.099	9.608	0.39645	0.1624:0.0:0.8376:0.0	.	189;107;130;107	B4DS96;O43747;B3KXW5;O43747-2	.;AP1G1_HUMAN;.;.	M	107;107;107;130;189;107	ENSP00000299980:I107M;ENSP00000377148:I107M;ENSP00000409153:I107M;ENSP00000403259:I130M;ENSP00000405836:I107M	ENSP00000299980:I107M	I	-	3	3	AP1G1	70365877	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.395000	0.52558	1.131000	0.42111	0.573000	0.79308	ATC	AP1G1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP1_complex_gsu	ENSG00000166747		0.378	AP1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP1G1	HGNC	protein_coding	OTTHUMT00000434147.1	117	0.00	0	G			71808376	71808376	-1	no_errors	ENST00000433195	ensembl	human	known	69_37n	missense	128	13.51	20	SNP	1.000	C
AP1M2	10053	genome.wustl.edu	37	19	10692015	10692015	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:10692015G>C	ENST00000250244.6	-	6	682	c.600C>G	c.(598-600)ctC>ctG	p.L200L	AP1M2_ENST00000590923.1_Silent_p.L200L	NM_005498.4	NP_005489.2	Q9Y6Q5	AP1M2_HUMAN	adaptor-related protein complex 1, mu 2 subunit	200	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein targeting (GO:0006605)|regulation of defense response to virus by virus (GO:0050690)|vesicle targeting (GO:0006903)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)				endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	9			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			GAAACACCTTGAGCTTGATGG	0.552											OREG0025241	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													54.0	56.0	56.0					19																	10692015		2061	4212	6273	-	-	-	SO:0001819	synonymous_variant	0			AF020797	CCDS45964.1	19p13.2	2008-10-07				ENSG00000129354			558	protein-coding gene	gene with protein product		607309				10338135	Standard	NM_005498		Approved	HSMU1B, mu2, AP1-mu2	uc002mpc.3	Q9Y6Q5		ENST00000250244.6:c.600C>G	19.37:g.10692015G>C		Somatic	666	WXS	Illumina GAIIx	Phase_IV	B2RDV5|Q9BSI8	Silent	SNP	pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu	p.L200	ENST00000250244.6	37	c.600	CCDS45964.1	19																																																																																			AP1M2	-	pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C	ENSG00000129354		0.552	AP1M2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	AP1M2	HGNC	protein_coding	OTTHUMT00000452034.1	41	0.00	0	G			10692015	10692015	-1	no_errors	ENST00000590923	ensembl	human	known	69_37n	silent	22	53.19	25	SNP	1.000	C
AP3B2	8120	genome.wustl.edu	37	15	83328413	83328413	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:83328413C>G	ENST00000261722.3	-	26	3355	c.3148G>C	c.(3148-3150)Gat>Cat	p.D1050H	AP3B2_ENST00000535359.1_Missense_Mutation_p.D1069H|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Missense_Mutation_p.D1018H	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	1050					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			GGCCGGGCATCCAGGGTCAGC	0.562																																						dbGAP											0													51.0	51.0	51.0					15																	83328413		2021	4181	6202	-	-	-	SO:0001583	missense	0			U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.3148G>C	15.37:g.83328413C>G	ENSP00000261722:p.Asp1050His	Somatic		WXS	Illumina GAIIx	Phase_IV	A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,pirsf_AP3_complex_bsu	p.D1050H	ENST00000261722.3	37	c.3148	CCDS45331.1	15	.	.	.	.	.	.	.	.	.	.	C	21.8	4.204826	0.79127	.	.	ENSG00000103723	ENST00000261722;ENST00000535348;ENST00000535359	T;T;T	0.55588	0.51;0.51;0.51	4.94	4.94	0.65067	.	0.111674	0.64402	D	0.000010	T	0.59335	0.2186	L	0.40543	1.245	0.80722	D	1	D;P;P	0.67145	0.996;0.951;0.951	P;P;P	0.61592	0.891;0.541;0.541	T	0.60895	-0.7172	10	0.59425	D	0.04	-17.6115	11.9608	0.53007	0.0:0.9196:0.0:0.0804	.	1018;1069;1050	B7ZKR7;B7ZKS0;Q13367	.;.;AP3B2_HUMAN	H	1050;1018;1069	ENSP00000261722:D1050H;ENSP00000438721:D1018H;ENSP00000440984:D1069H	ENSP00000261722:D1050H	D	-	1	0	AP3B2	81125468	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	2.698000	0.47068	2.448000	0.82819	0.462000	0.41574	GAT	AP3B2	-	pirsf_AP3_complex_bsu	ENSG00000103723		0.562	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3B2	HGNC	protein_coding	OTTHUMT00000397463.1	49	0.00	0	C			83328413	83328413	-1	no_errors	ENST00000261722	ensembl	human	known	69_37n	missense	41	37.88	25	SNP	1.000	G
AP4B1	10717	genome.wustl.edu	37	1	114447279	114447279	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:114447279G>A	ENST00000369569.1	-	1	341	c.61C>T	c.(61-63)Cac>Tac	p.H21Y	AP4B1_ENST00000369566.3_Missense_Mutation_p.H21Y|DCLRE1B_ENST00000369563.3_5'Flank|AP4B1_ENST00000369567.1_Missense_Mutation_p.H21Y|AP4B1_ENST00000256658.4_Missense_Mutation_p.H21Y	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	21					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		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)		GCTTGAATGTGAGGATTGCAC	0.562																																						dbGAP											0													343.0	305.0	318.0					1																	114447279		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"""beta 4 subunit of AP-4"""	607245	"""spastic paraplegia 47"""	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.61C>T	1.37:g.114447279G>A	ENSP00000358582:p.His21Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z4X3|Q59EJ4|Q96CL6	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,pirsf_AP_complex_bsu	p.H21Y	ENST00000369569.1	37	c.61	CCDS865.1	1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.171979	0.57584	.	.	ENSG00000134262	ENST00000369567;ENST00000369569;ENST00000256658;ENST00000369566;ENST00000369564;ENST00000432415;ENST00000369571	T;T;T;T;T;T	0.26223	1.75;1.79;1.79;1.79;1.75;1.79	5.28	5.28	0.74379	Armadillo-like helical (1);Armadillo-type fold (1);	0.047505	0.85682	D	0.000000	T	0.17789	0.0427	N	0.19112	0.55	0.29416	N	0.860919	P;D;D	0.63880	0.906;0.993;0.976	B;P;P	0.60012	0.391;0.867;0.61	T	0.04307	-1.0961	10	0.27082	T	0.32	-18.28	13.8188	0.63308	0.0:0.0:0.8468:0.1532	.	21;21;21	B7Z4X3;B1ALD0;Q9Y6B7	.;.;AP4B1_HUMAN	Y	21	ENSP00000358580:H21Y;ENSP00000358582:H21Y;ENSP00000256658:H21Y;ENSP00000358579:H21Y;ENSP00000393622:H21Y;ENSP00000358584:H21Y	ENSP00000256658:H21Y	H	-	1	0	AP4B1	114248802	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.807000	0.62576	2.626000	0.88956	0.561000	0.74099	CAC	AP4B1	-	superfamily_ARM-type_fold,pirsf_AP_complex_bsu	ENSG00000134262		0.562	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AP4B1	HGNC	protein_coding	OTTHUMT00000033037.1	66	0.00	0	G	NM_006594		114447279	114447279	-1	no_errors	ENST00000256658	ensembl	human	known	69_37n	missense	57	19.72	14	SNP	1.000	A
AP4S1	11154	genome.wustl.edu	37	14	31549780	31549780	+	Splice_Site	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:31549780G>C	ENST00000542754.2	+	5	689	c.296G>C	c.(295-297)aGt>aCt	p.S99T	AP4S1_ENST00000313566.6_Intron|AP4S1_ENST00000334725.4_Splice_Site_p.S99T|AP4S1_ENST00000554609.1_Intron|AP4S1_ENST00000216366.4_Splice_Site_p.S99T|AP4S1_ENST00000554345.1_Intron	NM_001128126.2|NM_001254728.1	NP_001121598.1|NP_001241657.1	Q9Y587	AP4S1_HUMAN	adaptor-related protein complex 4, sigma 1 subunit	99						coated pit (GO:0005905)|Golgi apparatus (GO:0005794)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			lung(1)	1	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.221)	GBM - Glioblastoma multiforme(265;0.00553)		GTCTTCCAGAGTGAATTAGAT	0.438																																					Pancreas(128;620 2365 4508 44145)	dbGAP											0													144.0	118.0	127.0					14																	31549780		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB030654	CCDS9642.1, CCDS45093.1, CCDS58309.1, CCDS58310.1	14q12	2012-06-29			ENSG00000100478	ENSG00000100478			575	protein-coding gene	gene with protein product		607243				10436028, 21620353	Standard	NM_007077		Approved	CLA20, AP47B, SPG52	uc001wqw.4	Q9Y587	OTTHUMG00000140202	ENST00000542754.2:c.295-1G>C	14.37:g.31549780G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	G3V2N8|Q6IAQ4|Q86U36|Q9BVE7	Missense_Mutation	SNP	pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu	p.S99T	ENST00000542754.2	37	c.296	CCDS45093.1	14	.	.	.	.	.	.	.	.	.	.	G	16.46	3.130368	0.56721	.	.	ENSG00000100478	ENST00000557346;ENST00000542754;ENST00000216366;ENST00000334725	.	.	.	5.61	5.61	0.85477	Longin-like (1);AP complex, mu/sigma subunit (1);	0.256198	0.50627	D	0.000105	T	0.49287	0.1548	L	0.29908	0.895	0.80722	D	1	B;P;B	0.40302	0.004;0.712;0.435	B;B;B	0.36959	0.004;0.237;0.107	T	0.55854	-0.8075	9	0.87932	D	0	.	18.7722	0.91896	0.0:0.0:1.0:0.0	.	99;99;99	Q9Y587;Q86U36;Q9Y587-2	AP4S1_HUMAN;.;.	T	99	.	ENSP00000216366:S99T	S	+	2	0	AP4S1	30619531	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	6.503000	0.73699	2.793000	0.96121	0.655000	0.94253	AGT	AP4S1	-	pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu	ENSG00000100478		0.438	AP4S1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AP4S1	HGNC	protein_coding	OTTHUMT00000409723.1	202	0.00	0	G		Missense_Mutation	31549780	31549780	+1	no_errors	ENST00000216366	ensembl	human	known	69_37n	missense	154	24.88	51	SNP	1.000	C
AP5Z1	9907	genome.wustl.edu	37	7	4826023	4826023	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:4826023C>T	ENST00000348624.4	+	10	1369	c.1275C>T	c.(1273-1275)ctC>ctT	p.L425L	AP5Z1_ENST00000401897.1_Silent_p.L425L|MIR4656_ENST00000579503.1_RNA	NM_014855.2	NP_055670.1	O43299	AP5Z1_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	425					cell death (GO:0008219)|double-strand break repair via homologous recombination (GO:0000724)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-5 adaptor complex (GO:0044599)|AP-type membrane coat adaptor complex (GO:0030119)|cytoplasm (GO:0005737)|nucleus (GO:0005634)											GCGGGCACCTCAGCACCCTCA	0.587																																						dbGAP											0													126.0	137.0	134.0					7																	4826023		2024	4171	6195	-	-	-	SO:0001819	synonymous_variant	0			AB007875	CCDS47528.1	7p22.1	2012-03-20	2012-03-20	2012-03-20	ENSG00000242802	ENSG00000242802			22197	protein-coding gene	gene with protein product		613653	"""KIAA0415"""	KIAA0415		20613862, 22022230	Standard	NM_014855		Approved	SPG48, zeta	uc003sne.3	O43299	OTTHUMG00000151754	ENST00000348624.4:c.1275C>T	7.37:g.4826023C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N3X2|Q96H80	Silent	SNP	NULL	p.L425	ENST00000348624.4	37	c.1275	CCDS47528.1	7																																																																																			AP5Z1	-	NULL	ENSG00000242802		0.587	AP5Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP5Z1	HGNC	protein_coding	OTTHUMT00000323771.1	42	0.00	0	C			4826023	4826023	+1	no_errors	ENST00000348624	ensembl	human	known	69_37n	silent	41	19.61	10	SNP	0.007	T
APAF1	317	genome.wustl.edu	37	12	99074100	99074100	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:99074100C>T	ENST00000551964.1	+	14	2702	c.1966C>T	c.(1966-1968)Cat>Tat	p.H656Y	APAF1_ENST00000550527.1_Missense_Mutation_p.H645Y|APAF1_ENST00000547045.1_Missense_Mutation_p.H656Y|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000359972.2_Missense_Mutation_p.H645Y|APAF1_ENST00000339433.3_Missense_Mutation_p.H656Y|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000549007.1_Missense_Mutation_p.H656Y|APAF1_ENST00000357310.1_Missense_Mutation_p.H656Y	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	656					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	AATCAAGGCTCATGAGGATGA	0.353																																						dbGAP											0													86.0	85.0	85.0					12																	99074100		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"""WD repeat domain containing"""	576	protein-coding gene	gene with protein product		602233	"""apoptotic protease activating factor"", ""apoptotic peptidase activating factor"""			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.1966C>T	12.37:g.99074100C>T	ENSP00000448165:p.His656Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_NB-ARC,pfam_CARD,superfamily_WD40_repeat_dom,superfamily_DEATH-like,smart_WD40_repeat,pirsf_Apoptotic_pept-activating_1,pfscan_CARD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Disease_R,prints_G-protein_beta_WD-40_rep	p.H656Y	ENST00000551964.1	37	c.1966	CCDS9069.1	12	.	.	.	.	.	.	.	.	.	.	C	25.5	4.640639	0.87859	.	.	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000339433;ENST00000550527;ENST00000547045;ENST00000549007	T;T;T;T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49	5.33	5.33	0.75918	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.045227	0.85682	D	0.000000	D	0.93609	0.7959	H	0.97023	3.925	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.995	D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;0.982	D	0.95570	0.8637	10	0.87932	D	0	-11.5119	19.0194	0.92906	0.0:1.0:0.0:0.0	.	656;656;645;656;645	C9JLV4;O14727-4;O14727-3;O14727;O14727-2	.;.;.;APAF_HUMAN;.	Y	656;645;656;656;645;656;656	ENSP00000448165:H656Y;ENSP00000353059:H645Y;ENSP00000349862:H656Y;ENSP00000341830:H656Y;ENSP00000448449:H645Y;ENSP00000449791:H656Y;ENSP00000448161:H656Y	ENSP00000341830:H656Y	H	+	1	0	APAF1	97598231	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.437000	0.80417	2.496000	0.84212	0.467000	0.42956	CAT	APAF1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Apoptotic_pept-activating_1,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000120868		0.353	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	APAF1	HGNC	protein_coding	OTTHUMT00000408006.1	134	0.00	0	C	NM_181861.1		99074100	99074100	+1	no_errors	ENST00000551964	ensembl	human	known	69_37n	missense	88	31.78	41	SNP	1.000	T
APC	324	genome.wustl.edu	37	5	112176467	112176467	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:112176467G>C	ENST00000457016.1	+	16	5556	c.5176G>C	c.(5176-5178)Gaa>Caa	p.E1726Q	APC_ENST00000257430.4_Missense_Mutation_p.E1726Q|APC_ENST00000508376.2_Missense_Mutation_p.E1726Q|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1726	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TATTCTTGCAGAATGCATTAA	0.438		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	dbGAP	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	2	Unknown(1)|Deletion - Frameshift(1)	soft_tissue(1)|skin(1)											70.0	71.0	71.0					5																	112176467		2202	4300	6502	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.5176G>C	5.37:g.112176467G>C	ENSP00000413133:p.Glu1726Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.E1726Q	ENST00000457016.1	37	c.5176	CCDS4107.1	5	.	.	.	.	.	.	.	.	.	.	G	22.2	4.259853	0.80246	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.94092	-3.35;-3.35;-3.35	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.94751	0.8306	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.93119	0.6523	9	.	.	.	-25.3234	20.8598	0.99761	0.0:0.0:1.0:0.0	.	1728;1726	Q4LE70;P25054	.;APC_HUMAN	Q	1726	ENSP00000413133:E1726Q;ENSP00000257430:E1726Q;ENSP00000427089:E1726Q	.	E	+	1	0	APC	112204366	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.188000	0.94921	2.937000	0.99478	0.650000	0.86243	GAA	APC	-	pfam_SAMP	ENSG00000134982		0.438	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	APC	HGNC	protein_coding	OTTHUMT00000250738.2	25	0.00	0	G	NM_000038		112176467	112176467	+1	no_errors	ENST00000257430	ensembl	human	known	69_37n	missense	34	29.17	14	SNP	1.000	C
APC	324	genome.wustl.edu	37	5	112179740	112179740	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:112179740G>C	ENST00000457016.1	+	16	8829	c.8449G>C	c.(8449-8451)Gat>Cat	p.D2817H	APC_ENST00000257430.4_Missense_Mutation_p.D2817H|APC_ENST00000508376.2_Missense_Mutation_p.D2817H|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	2817	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AAAGAAGCGAGATTCCAAAAC	0.448		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	dbGAP	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	1	Unknown(1)	skin(1)											75.0	78.0	77.0					5																	112179740		2202	4299	6501	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.8449G>C	5.37:g.112179740G>C	ENSP00000413133:p.Asp2817His	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.D2817H	ENST00000457016.1	37	c.8449	CCDS4107.1	5	.	.	.	.	.	.	.	.	.	.	G	17.74	3.464218	0.63513	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.83335	-1.71;-1.71;-1.71	5.92	5.92	0.95590	EB-1 binding (1);	0.148251	0.64402	D	0.000011	D	0.86912	0.6047	L	0.29908	0.895	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.75484	0.98;0.986	D	0.84513	0.0623	9	.	.	.	-23.2025	20.3248	0.98698	0.0:0.0:1.0:0.0	.	2819;2817	Q4LE70;P25054	.;APC_HUMAN	H	2817	ENSP00000413133:D2817H;ENSP00000257430:D2817H;ENSP00000427089:D2817H	.	D	+	1	0	APC	112207639	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.820000	0.92003	2.818000	0.97014	0.655000	0.94253	GAT	APC	-	pfam_EB1-bd	ENSG00000134982		0.448	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	APC	HGNC	protein_coding	OTTHUMT00000250738.2	57	0.00	0	G	NM_000038		112179740	112179740	+1	no_errors	ENST00000257430	ensembl	human	known	69_37n	missense	41	22.64	12	SNP	1.000	C
APEX1	328	genome.wustl.edu	37	14	20925575	20925575	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:20925575C>T	ENST00000216714.3	+	5	1133	c.865C>T	c.(865-867)Cac>Tac	p.H289Y	APEX1_ENST00000398030.4_Missense_Mutation_p.H289Y|APEX1_ENST00000557054.1_3'UTR|OSGEP_ENST00000206542.4_5'Flank|APEX1_ENST00000555414.1_Missense_Mutation_p.H289Y|OSGEP_ENST00000556252.1_5'Flank	NM_001244249.1|NM_001641.3	NP_001231178.1|NP_001632.2	P27695	APEX1_HUMAN	APEX nuclease (multifunctional DNA repair enzyme) 1	289	Mitochondrial targeting sequence (MTS).				aging (GO:0007568)|base-excision repair (GO:0006284)|cell redox homeostasis (GO:0045454)|cellular response to cAMP (GO:0071320)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to peptide hormone stimulus (GO:0071375)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA demethylation (GO:0080111)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|negative regulation of smooth muscle cell migration (GO:0014912)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|oxidation-reduction process (GO:0055114)|positive regulation of DNA repair (GO:0045739)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribosome (GO:0005840)|transcription factor complex (GO:0005667)	3'-5' exonuclease activity (GO:0008408)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008311)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|phosphodiesterase I activity (GO:0004528)|phosphoric diester hydrolase activity (GO:0008081)|poly(A) RNA binding (GO:0044822)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|uracil DNA N-glycosylase activity (GO:0004844)			breast(2)|endometrium(1)|large_intestine(4)|ovary(2)	9	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	Lucanthone(DB04967)	TTTGTTGTCCCACTCTCTGTT	0.493								Other BER factors																														dbGAP											0													229.0	200.0	210.0					14																	20925575		2203	4300	6503	-	-	-	SO:0001583	missense	0			X59764	CCDS9550.1	14q11.2	2008-02-05	2002-09-11	2002-09-13	ENSG00000100823	ENSG00000100823	4.2.99.18		587	protein-coding gene	gene with protein product		107748	"""APEX nuclease (multifunctional DNA repair enzyme)"""	APEX			Standard	NM_001641		Approved	APE, REF1, HAP1, APX, APEN, REF-1, APE-1	uc021rnr.1	P27695	OTTHUMG00000029544	ENST00000216714.3:c.865C>T	14.37:g.20925575C>T	ENSP00000216714:p.His289Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q969L5|Q99775	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,tigrfam_ExoDNase_III	p.H289Y	ENST00000216714.3	37	c.865	CCDS9550.1	14	.	.	.	.	.	.	.	.	.	.	C	10.66	1.412321	0.25465	.	.	ENSG00000100823	ENST00000555414;ENST00000216714;ENST00000398030;ENST00000557054	T;T;T	0.63096	-0.02;-0.02;-0.02	6.06	4.21	0.49690	Endonuclease/exonuclease/phosphatase (2);	0.751719	0.13631	N	0.373688	T	0.46210	0.1381	N	0.19112	0.55	0.09310	N	1	B	0.19445	0.036	B	0.27887	0.084	T	0.43376	-0.9395	10	0.87932	D	0	.	5.0445	0.14477	0.1524:0.6222:0.1472:0.0782	.	289	P27695	APEX1_HUMAN	Y	289;289;289;20	ENSP00000451979:H289Y;ENSP00000216714:H289Y;ENSP00000381111:H289Y	ENSP00000216714:H289Y	H	+	1	0	APEX1	19995415	0.000000	0.05858	0.926000	0.36857	0.999000	0.98932	0.545000	0.23268	0.861000	0.35504	0.655000	0.94253	CAC	APEX1	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,tigrfam_ExoDNase_III	ENSG00000100823		0.493	APEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APEX1	HGNC	protein_coding	OTTHUMT00000073641.3	60	0.00	0	C	NM_001641		20925575	20925575	+1	no_errors	ENST00000216714	ensembl	human	known	69_37n	missense	30	37.50	18	SNP	0.005	T
APEX2	27301	genome.wustl.edu	37	X	55028814	55028814	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:55028814C>G	ENST00000374987.3	+	3	438	c.372C>G	c.(370-372)ctC>ctG	p.L124L	APEX2_ENST00000471758.1_Intron	NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	124					base-excision repair (GO:0006284)|cell cycle (GO:0007049)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008311)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						AAGAGGAACTCCGGGCTCTGG	0.542								Other BER factors																														dbGAP											0													111.0	95.0	101.0					X																	55028814		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB021260	CCDS14365.1	Xp11.23	2014-02-18			ENSG00000169188	ENSG00000169188	4.2.99.18		17889	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 2"""	300773				11376153	Standard	NM_014481		Approved	APEXL2, APE2, XTH2, ZGRF2	uc004dtz.4	Q9UBZ4	OTTHUMG00000021642	ENST00000374987.3:c.372C>G	X.37:g.55028814C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9Y5X7	Silent	SNP	pfam_Endo/exonuclease/phosphatase,pfam_Znf_GRF,superfamily_Endo/exonuclease/phosphatase,tigrfam_ExoDNase_III	p.L124	ENST00000374987.3	37	c.372	CCDS14365.1	X																																																																																			APEX2	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,tigrfam_ExoDNase_III	ENSG00000169188		0.542	APEX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APEX2	HGNC	protein_coding	OTTHUMT00000056845.1	64	0.00	0	C			55028814	55028814	+1	no_errors	ENST00000374987	ensembl	human	known	69_37n	silent	74	18.48	17	SNP	1.000	G
APEX2	27301	genome.wustl.edu	37	X	55033189	55033189	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:55033189C>G	ENST00000374987.3	+	6	944	c.878C>G	c.(877-879)tCt>tGt	p.S293C	APEX2_ENST00000471758.1_3'UTR|ALAS2_ENST00000498636.1_5'Flank	NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	293					base-excision repair (GO:0006284)|cell cycle (GO:0007049)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008311)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						TTTCAGGCCTCTTTCCTGCTG	0.597								Other BER factors																														dbGAP											0													53.0	47.0	49.0					X																	55033189		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB021260	CCDS14365.1	Xp11.23	2014-02-18			ENSG00000169188	ENSG00000169188	4.2.99.18		17889	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 2"""	300773				11376153	Standard	NM_014481		Approved	APEXL2, APE2, XTH2, ZGRF2	uc004dtz.4	Q9UBZ4	OTTHUMG00000021642	ENST00000374987.3:c.878C>G	X.37:g.55033189C>G	ENSP00000364126:p.Ser293Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9Y5X7	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,pfam_Znf_GRF,superfamily_Endo/exonuclease/phosphatase,tigrfam_ExoDNase_III	p.S293C	ENST00000374987.3	37	c.878	CCDS14365.1	X	.	.	.	.	.	.	.	.	.	.	C	14.00	2.406065	0.42715	.	.	ENSG00000169188	ENST00000374987	T	0.63417	-0.04	4.36	4.36	0.52297	Endonuclease/exonuclease/phosphatase (2);	0.340068	0.33217	N	0.005143	T	0.53367	0.1792	L	0.39898	1.24	0.25005	N	0.991449	B	0.13594	0.008	B	0.18561	0.022	T	0.41484	-0.9506	10	0.27082	T	0.32	-11.7346	15.592	0.76537	0.0:1.0:0.0:0.0	.	293	Q9UBZ4	APEX2_HUMAN	C	293	ENSP00000364126:S293C	ENSP00000364126:S293C	S	+	2	0	APEX2	55049914	0.997000	0.39634	0.410000	0.26471	0.722000	0.41435	4.804000	0.62554	2.125000	0.65367	0.600000	0.82982	TCT	APEX2	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,tigrfam_ExoDNase_III	ENSG00000169188		0.597	APEX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APEX2	HGNC	protein_coding	OTTHUMT00000056845.1	40	0.00	0	C			55033189	55033189	+1	no_errors	ENST00000374987	ensembl	human	known	69_37n	missense	39	42.65	29	SNP	0.366	G
APLF	200558	genome.wustl.edu	37	2	68772404	68772404	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:68772404G>T	ENST00000303795.4	+	8	1417	c.1246G>T	c.(1246-1248)Gat>Tat	p.D416Y	APLF_ENST00000471727.1_3'UTR	NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	416	Flexible linker.				cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of DNA ligation (GO:0051106)|regulation of isotype switching (GO:0045191)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|endodeoxyribonuclease activity (GO:0004520)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						AGATGAGACTGATGACCGGCC	0.428																																						dbGAP											0													170.0	157.0	161.0					2																	68772404		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC030711	CCDS1888.1	2p14	2014-02-20	2008-10-01	2008-10-01	ENSG00000169621	ENSG00000169621			28724	protein-coding gene	gene with protein product	"""XRCC1-interacting protein 1"", ""zinc finger, CX5CX6HX5H motif containing 1"""	611035	"""chromosome 2 open reading frame 13"""	C2orf13		18474613, 18077224, 17353262	Standard	NM_173545		Approved	MGC47799, Xip1, ZCCHH1	uc002sep.3	Q8IW19	OTTHUMG00000129566	ENST00000303795.4:c.1246G>T	2.37:g.68772404G>T	ENSP00000307004:p.Asp416Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K476|Q53P47|Q53PB9|Q53QU0	Missense_Mutation	SNP	pfam_Znf_C2H2_APLF-like,superfamily_SMAD_FHA_domain	p.D416Y	ENST00000303795.4	37	c.1246	CCDS1888.1	2	.	.	.	.	.	.	.	.	.	.	.	14.59	2.581681	0.46006	.	.	ENSG00000169621	ENST00000303795	T	0.30182	1.54	5.41	3.56	0.40772	.	0.315383	0.33023	N	0.005366	T	0.49355	0.1552	M	0.80422	2.495	0.37939	D	0.932271	D	0.54047	0.964	P	0.53313	0.723	T	0.62267	-0.6890	10	0.72032	D	0.01	.	14.7942	0.69865	0.0:0.2723:0.7277:0.0	.	416	Q8IW19	APLF_HUMAN	Y	416	ENSP00000307004:D416Y	ENSP00000307004:D416Y	D	+	1	0	APLF	68625908	1.000000	0.71417	0.306000	0.25113	0.820000	0.46376	4.999000	0.63934	0.624000	0.30286	0.555000	0.69702	GAT	APLF	-	NULL	ENSG00000169621		0.428	APLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APLF	HGNC	protein_coding	OTTHUMT00000251759.1	116	0.00	0	G	NM_173545		68772404	68772404	+1	no_errors	ENST00000303795	ensembl	human	known	69_37n	missense	112	13.85	18	SNP	0.979	T
APLP1	333	genome.wustl.edu	37	19	36362197	36362197	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:36362197G>C	ENST00000221891.4	+	4	675	c.483G>C	c.(481-483)caG>caC	p.Q161H	NPHS1_ENST00000591817.1_5'Flank|APLP1_ENST00000586861.1_Missense_Mutation_p.Q155H|APLP1_ENST00000537454.2_Missense_Mutation_p.Q122H	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	161	Copper-binding. {ECO:0000250}.				adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular response to norepinephrine stimulus (GO:0071874)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|mRNA polyadenylation (GO:0006378)|negative regulation of cAMP biosynthetic process (GO:0030818)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|regulation of translation (GO:0006417)	basement membrane (GO:0005604)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha-2B adrenergic receptor binding (GO:0031695)|alpha-2C adrenergic receptor binding (GO:0031696)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|transition metal ion binding (GO:0046914)			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCTTGCACCAGGAGCGCATGG	0.622																																						dbGAP											0													85.0	70.0	75.0					19																	36362197		2203	4299	6502	-	-	-	SO:0001583	missense	0			U48437	CCDS32997.1	19q	2008-07-15							597	protein-coding gene	gene with protein product	"""amyloid-like protein 1"", ""amyloid precursor-like protein 1"""	104775				8432545	Standard	NM_001024807		Approved	APLP	uc002ocf.3	P51693		ENST00000221891.4:c.483G>C	19.37:g.36362197G>C	ENSP00000221891:p.Gln161His	Somatic		WXS	Illumina GAIIx	Phase_IV	O00113|Q96A92	Missense_Mutation	SNP	pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,smart_Amyloid_glyco_extra,prints_Amyloid_glyco	p.Q161H	ENST00000221891.4	37	c.483	CCDS32997.1	19	.	.	.	.	.	.	.	.	.	.	g	17.33	3.361473	0.61403	.	.	ENSG00000105290	ENST00000537454;ENST00000221891	D;D	0.94457	-3.33;-3.43	4.86	2.73	0.32206	Amyloidogenic glycoprotein, extracellular (1);Amyloidogenic glycoprotein, copper-binding (3);	0.000000	0.43919	D	0.000506	D	0.94827	0.8329	L	0.54323	1.7	0.42957	D	0.994399	D;D;D;D	0.89917	0.997;0.999;0.999;1.0	D;D;D;D	0.79784	0.993;0.936;0.935;0.961	D	0.92238	0.5798	10	0.48119	T	0.1	-13.8121	4.948	0.14000	0.194:0.1754:0.6306:0.0	.	155;122;161;161	B7Z4G8;F5GZ08;P51693-2;P51693	.;.;.;APLP1_HUMAN	H	122;161	ENSP00000441501:Q122H;ENSP00000221891:Q161H	ENSP00000221891:Q161H	Q	+	3	2	APLP1	41054037	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.164000	0.31810	0.479000	0.27511	0.479000	0.44913	CAG	APLP1	-	pfam_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,smart_Amyloid_glyco_extra	ENSG00000105290		0.622	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	APLP1	HGNC	protein_coding	OTTHUMT00000452564.1	49	0.00	0	G	NM_001024807		36362197	36362197	+1	no_errors	ENST00000221891	ensembl	human	known	69_37n	missense	28	41.67	20	SNP	1.000	C
APOB	338	genome.wustl.edu	37	2	21230001	21230001	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:21230001G>C	ENST00000233242.1	-	26	9866	c.9739C>G	c.(9739-9741)Caa>Gaa	p.Q3247E		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3247					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)					CCAGGAATTTGAAAGGTCCTG	0.398																																						dbGAP											0													57.0	55.0	56.0					2																	21230001		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.9739C>G	2.37:g.21230001G>C	ENSP00000233242:p.Gln3247Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	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.Q3247E	ENST00000233242.1	37	c.9739	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	G	12.18	1.860529	0.32884	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.36157	1.27	4.87	2.79	0.32731	.	0.827405	0.10241	N	0.698478	T	0.37919	0.1021	M	0.64676	1.99	0.80722	D	1	B	0.22211	0.066	B	0.21360	0.034	T	0.30060	-0.9991	10	0.62326	D	0.03	.	11.533	0.50620	0.0:0.0:0.3427:0.6573	.	3247	P04114	APOB_HUMAN	E	3247	ENSP00000233242:Q3247E	ENSP00000233242:Q3247E	Q	-	1	0	APOB	21083506	0.998000	0.40836	0.709000	0.30452	0.962000	0.63368	3.120000	0.50430	0.991000	0.38814	0.563000	0.77884	CAA	APOB	-	NULL	ENSG00000084674		0.398	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	48	0.00	0	G			21230001	21230001	-1	no_errors	ENST00000233242	ensembl	human	known	69_37n	missense	35	28.57	14	SNP	0.979	C
APOB	338	genome.wustl.edu	37	2	21236248	21236248	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:21236248C>G	ENST00000233242.1	-	25	4127	c.4000G>C	c.(4000-4002)Gag>Cag	p.E1334Q		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1334					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)					ACTTGGAACTCTCGAGATGGC	0.478																																						dbGAP											0													140.0	136.0	137.0					2																	21236248		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.4000G>C	2.37:g.21236248C>G	ENSP00000233242:p.Glu1334Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	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.E1334Q	ENST00000233242.1	37	c.4000	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	C	11.56	1.676529	0.29783	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00848	5.62	5.53	4.64	0.57946	.	0.000000	0.64402	D	0.000008	T	0.01905	0.0060	M	0.73598	2.24	0.80722	D	1	P	0.37122	0.583	B	0.31016	0.123	T	0.54748	-0.8247	10	0.72032	D	0.01	.	16.5831	0.84719	0.0:0.8695:0.1305:0.0	.	1334	P04114	APOB_HUMAN	Q	1334	ENSP00000233242:E1334Q	ENSP00000233242:E1334Q	E	-	1	0	APOB	21089753	0.645000	0.27286	0.128000	0.21923	0.159000	0.22180	3.801000	0.55545	1.441000	0.47550	0.563000	0.77884	GAG	APOB	-	NULL	ENSG00000084674		0.478	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	111	0.00	0	C			21236248	21236248	-1	no_errors	ENST00000233242	ensembl	human	known	69_37n	missense	74	31.48	34	SNP	0.843	G
APOBEC3D	140564	genome.wustl.edu	37	22	39428252	39428252	+	Silent	SNP	C	C	T	rs201378161		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:39428252C>T	ENST00000216099.8	+	7	1499	c.1092C>T	c.(1090-1092)ttC>ttT	p.F364F	APOBEC3D_ENST00000381568.4_Silent_p.F364F|APOBEC3D_ENST00000427494.2_Silent_p.F180F	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D	364					defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					ATGAGCCATTCAAGCCTTGGA	0.478																																						dbGAP											0													180.0	158.0	165.0					22																	39428252		1568	3582	5150	-	-	-	SO:0001819	synonymous_variant	0			BF832090	CCDS46709.1	22q13.1	2012-10-19	2008-05-01		ENSG00000243811	ENSG00000243811		"""Apolipoprotein B mRNA editing enzymes"""	17354	protein-coding gene	gene with protein product		609900	"""apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D (putative)"", ""apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3E pseudogene"""	APOBEC3E		11863358	Standard	NM_152426		Approved	ARP6, APOBEC3DE	uc003awt.4	Q96AK3	OTTHUMG00000151084	ENST00000216099.8:c.1092C>T	22.37:g.39428252C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JZ91|Q7Z2N2|Q7Z2N5|Q7Z2N6	Silent	SNP	pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like	p.F364	ENST00000216099.8	37	c.1092	CCDS46709.1	22																																																																																			APOBEC3D	-	pfam_APOBEC_C,superfamily_Cytidine_deaminase-like	ENSG00000243811		0.478	APOBEC3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOBEC3D	HGNC	protein_coding	OTTHUMT00000321232.2	135	0.00	0	C	NM_152426		39428252	39428252	+1	no_errors	ENST00000216099	ensembl	human	known	69_37n	silent	120	23.57	37	SNP	0.009	T
APOBR	55911	genome.wustl.edu	37	16	28508466	28508466	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:28508466G>C	ENST00000431282.1	+	3	2087	c.2077G>C	c.(2077-2079)Gag>Cag	p.E693Q	CLN3_ENST00000567160.1_5'Flank|CLN3_ENST00000569430.1_5'Flank|APOBR_ENST00000328423.5_Missense_Mutation_p.E693Q|APOBR_ENST00000564831.1_Missense_Mutation_p.E702Q			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	693	Glu-rich.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						AGAGAACCAGGAGCTGGACGG	0.617																																						dbGAP											0													20.0	25.0	24.0					16																	28508466		2083	4205	6288	-	-	-	SO:0001583	missense	0			AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"""apolipoprotein B48 receptor"", ""apolipoprotein B100 receptor"""	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83		ENST00000431282.1:c.2077G>C	16.37:g.28508466G>C	ENSP00000416094:p.Glu693Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Missense_Mutation	SNP	NULL	p.E702Q	ENST00000431282.1	37	c.2104		16	.	.	.	.	.	.	.	.	.	.	G	10.77	1.443481	0.25987	.	.	ENSG00000184730	ENST00000328423;ENST00000431282	T;T	0.59502	0.26;0.26	4.95	0.3	0.15776	.	.	.	.	.	T	0.41305	0.1153	L	0.32530	0.975	0.09310	N	1	B;B	0.29590	0.25;0.116	B;B	0.29524	0.075;0.103	T	0.36529	-0.9744	9	0.66056	D	0.02	-2.4949	4.2264	0.10582	0.1864:0.0:0.5019:0.3117	.	693;693	Q0VD83;Q9NS13	APOBR_HUMAN;.	Q	693	ENSP00000327669:E693Q;ENSP00000416094:E693Q	ENSP00000327669:E693Q	E	+	1	0	APOBR	28415967	0.110000	0.22057	0.000000	0.03702	0.015000	0.08874	1.161000	0.31773	0.202000	0.20498	0.556000	0.70494	GAG	APOBR	-	NULL	ENSG00000184730		0.617	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	APOBR	HGNC	protein_coding		50	0.00	0	G	NM_182804		28508466	28508466	+1	no_errors	ENST00000564831	ensembl	human	known	69_37n	missense	43	17.31	9	SNP	0.000	C
APOH	350	genome.wustl.edu	37	17	64216681	64216681	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:64216681C>G	ENST00000205948.6	-	5	632	c.595G>C	c.(595-597)Gaa>Caa	p.E199Q		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	199	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation, intrinsic pathway (GO:0007597)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of myeloid cell apoptotic process (GO:0033033)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|plasminogen activation (GO:0031639)|positive regulation of blood coagulation (GO:0030194)|positive regulation of lipoprotein lipase activity (GO:0051006)|regulation of fibrinolysis (GO:0051917)|triglyceride metabolic process (GO:0006641)|triglyceride transport (GO:0034197)	cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipid binding (GO:0005543)			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			CCCCTGCATTCTGGTAATTTA	0.408																																					Melanoma(155;624 1882 16869 48804 51309)	dbGAP											0													168.0	157.0	161.0					17																	64216681		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11663.1	17q24.2	2013-01-24				ENSG00000091583		"""Apolipoproteins"""	616	protein-coding gene	gene with protein product	"""beta-2-glycoprotein I"""	138700		B2G1		1582254	Standard	NM_000042		Approved	BG	uc002jfn.4	P02749		ENST00000205948.6:c.595G>C	17.37:g.64216681C>G	ENSP00000205948:p.Glu199Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9M3|Q9UCN7	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_Sushi_2,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.E199Q	ENST00000205948.6	37	c.595	CCDS11663.1	17	.	.	.	.	.	.	.	.	.	.	c	12.28	1.889777	0.33348	.	.	ENSG00000091583	ENST00000205948	T	0.66280	-0.2	5.33	4.33	0.51752	Complement control module (2);Sushi/SCR/CCP (3);	0.292320	0.37530	N	0.002054	T	0.51483	0.1677	L	0.49126	1.545	0.41663	D	0.989196	P	0.38280	0.625	B	0.35688	0.208	T	0.47032	-0.9148	10	0.13108	T	0.6	.	11.8536	0.52425	0.0:0.9076:0.0:0.0924	.	199	P02749	APOH_HUMAN	Q	199	ENSP00000205948:E199Q	ENSP00000205948:E199Q	E	-	1	0	APOH	61647143	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.345000	0.44018	1.300000	0.44818	0.563000	0.77884	GAA	APOH	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000091583		0.408	APOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOH	HGNC	protein_coding	OTTHUMT00000446926.1	143	0.00	0	C	NM_000042		64216681	64216681	-1	no_errors	ENST00000205948	ensembl	human	known	69_37n	missense	190	19.41	46	SNP	1.000	G
APOL2	23780	genome.wustl.edu	37	22	36623807	36623807	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:36623807C>G	ENST00000249066.6	-	6	1133	c.657G>C	c.(655-657)ggG>ggC	p.G219G	APOL2_ENST00000358502.5_Silent_p.G219G|APOL2_ENST00000451256.2_Silent_p.G331G	NM_145637.1	NP_663612.1	Q9BQE5	APOL2_HUMAN	apolipoprotein L, 2	219					acute-phase response (GO:0006953)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|maternal process involved in female pregnancy (GO:0060135)|multicellular organismal development (GO:0007275)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|membrane (GO:0016020)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2)	9						TCCTCCCAATCCCTTGTGTGA	0.517																																						dbGAP											0													149.0	152.0	151.0					22																	36623807		2180	4292	6472	-	-	-	SO:0001819	synonymous_variant	0			AF324224	CCDS43014.1	22q12.3	2013-09-20			ENSG00000128335	ENSG00000128335		"""Apolipoproteins"""	619	protein-coding gene	gene with protein product	"""apolipoprotein L-II"""	607252				10591208, 11374903	Standard	NM_145637		Approved	APOL-II	uc003apa.3	Q9BQE5	OTTHUMG00000150634	ENST00000249066.6:c.657G>C	22.37:g.36623807C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B0QYK7|O95915|Q59GW9|Q5TH96|Q969T6|Q9BT28|Q9UGT1|Q9UH10	Silent	SNP	pfam_ApoL	p.G219	ENST00000249066.6	37	c.657	CCDS43014.1	22																																																																																			APOL2	-	pfam_ApoL	ENSG00000128335		0.517	APOL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	APOL2	HGNC	protein_coding	OTTHUMT00000319279.1	52	0.00	0	C	NM_145637		36623807	36623807	-1	no_errors	ENST00000249066	ensembl	human	known	69_37n	silent	117	11.36	15	SNP	0.000	G
APOL2	23780	genome.wustl.edu	37	22	36624167	36624167	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:36624167G>A	ENST00000249066.6	-	6	773	c.297C>T	c.(295-297)ctC>ctT	p.L99L	APOL2_ENST00000358502.5_Silent_p.L99L|APOL2_ENST00000451256.2_Silent_p.L211L	NM_145637.1	NP_663612.1	Q9BQE5	APOL2_HUMAN	apolipoprotein L, 2	99					acute-phase response (GO:0006953)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|maternal process involved in female pregnancy (GO:0060135)|multicellular organismal development (GO:0007275)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|membrane (GO:0016020)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2)	9						CAAGGGCACGGAGCTTCCTTA	0.532																																						dbGAP											0													115.0	125.0	122.0					22																	36624167		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF324224	CCDS43014.1	22q12.3	2013-09-20			ENSG00000128335	ENSG00000128335		"""Apolipoproteins"""	619	protein-coding gene	gene with protein product	"""apolipoprotein L-II"""	607252				10591208, 11374903	Standard	NM_145637		Approved	APOL-II	uc003apa.3	Q9BQE5	OTTHUMG00000150634	ENST00000249066.6:c.297C>T	22.37:g.36624167G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B0QYK7|O95915|Q59GW9|Q5TH96|Q969T6|Q9BT28|Q9UGT1|Q9UH10	Silent	SNP	pfam_ApoL	p.L99	ENST00000249066.6	37	c.297	CCDS43014.1	22																																																																																			APOL2	-	pfam_ApoL	ENSG00000128335		0.532	APOL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	APOL2	HGNC	protein_coding	OTTHUMT00000319279.1	55	0.00	0	G	NM_145637		36624167	36624167	-1	no_errors	ENST00000249066	ensembl	human	known	69_37n	silent	91	24.17	29	SNP	0.005	A
APP	351	genome.wustl.edu	37	21	27394168	27394168	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr21:27394168C>G	ENST00000346798.3	-	6	886	c.853G>C	c.(853-855)Gag>Cag	p.E285Q	APP_ENST00000440126.3_Missense_Mutation_p.E280Q|APP_ENST00000358918.3_Missense_Mutation_p.E285Q|APP_ENST00000439274.2_Missense_Mutation_p.E229Q|APP_ENST00000354192.3_Missense_Mutation_p.E229Q|APP_ENST00000474136.1_5'UTR|APP_ENST00000359726.3_Missense_Mutation_p.E285Q|APP_ENST00000348990.5_Missense_Mutation_p.E285Q|APP_ENST00000357903.3_Missense_Mutation_p.E285Q|APP_ENST00000448388.2_Missense_Mutation_p.E250Q	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	285					adult locomotory behavior (GO:0008344)|axon cargo transport (GO:0008088)|axon midline choice point recognition (GO:0016199)|axonogenesis (GO:0007409)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|collateral sprouting in absence of injury (GO:0048669)|dendrite development (GO:0016358)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|ionotropic glutamate receptor signaling pathway (GO:0035235)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|mRNA polyadenylation (GO:0006378)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron differentiation (GO:0045665)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of multicellular organism growth (GO:0040014)|regulation of protein binding (GO:0043393)|regulation of synapse structure and activity (GO:0050803)|regulation of translation (GO:0006417)|response to oxidative stress (GO:0006979)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|suckling behavior (GO:0001967)|synaptic growth at neuromuscular junction (GO:0051124)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|ciliary rootlet (GO:0035253)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endosome (GO:0005768)|ER to Golgi transport vesicle (GO:0030134)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|receptor complex (GO:0043235)|spindle midzone (GO:0051233)|synapse (GO:0045202)	acetylcholine receptor binding (GO:0033130)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|peptidase activator activity (GO:0016504)|PTB domain binding (GO:0051425)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				CGAACCACCTCTTCCACAGAC	0.527																																						dbGAP											0													184.0	140.0	155.0					21																	27394168		2203	4300	6503	-	-	-	SO:0001583	missense	0			M15533	CCDS13576.1, CCDS13577.1, CCDS33523.1, CCDS46638.1, CCDS46639.1, CCDS56211.1, CCDS56212.1, CCDS56213.1	21q21.2	2014-01-30	2008-07-31		ENSG00000142192	ENSG00000142192		"""Endogenous ligands"""	620	protein-coding gene	gene with protein product	"""peptidase nexin-II"""	104760	"""Alzheimer disease"""	AD1		1679289	Standard	NM_001136130		Approved		uc002ylz.3	P05067	OTTHUMG00000078438	ENST00000346798.3:c.853G>C	21.37:g.27394168C>G	ENSP00000284981:p.Glu285Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	Missense_Mutation	SNP	pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,pfam_Amyloid_glyco_Abeta,pfam_Prot_inh_Kunz-m,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,superfamily_Prot_inh_Kunz-m,smart_Amyloid_glyco_extra,smart_Prot_inh_Kunz-m,prints_Amyloid_glyco,prints_Amyloid_glyco_Abeta,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m	p.E285Q	ENST00000346798.3	37	c.853	CCDS13576.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.66|14.66	2.601066|2.601066	0.46423|0.46423	.|.	.|.	ENSG00000142192|ENSG00000142192	ENST00000346798;ENST00000354192;ENST00000348990;ENST00000357903;ENST00000358918;ENST00000359726;ENST00000448388;ENST00000440126;ENST00000439274|ENST00000448850;ENST00000415997	T;D;D;T;T;D;D;T;T|.	0.96587|.	1.43;-4.06;-4.05;1.43;1.43;-4.05;-4.05;1.43;1.43|.	3.62|3.62	3.62|3.62	0.41486|0.41486	.|.	0.343033|.	0.28971|.	N|.	0.013556|.	T|T	0.20941|0.20941	0.0504|0.0504	N|N	0.10645|0.10645	0.015|0.015	0.23361|0.23361	N|N	0.997836|0.997836	D;P;P;P;P;P;P;P|.	0.61080|.	0.989;0.659;0.659;0.659;0.769;0.769;0.769;0.659|.	D;B;B;B;P;P;P;B|.	0.70487|.	0.969;0.403;0.403;0.403;0.607;0.607;0.607;0.403|.	T|T	0.12528|0.12528	-1.0544|-1.0544	10|5	0.52906|.	T|.	0.07|.	-26.0823|-26.0823	11.092|11.092	0.48121|0.48121	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	285;250;229;280;229;285;285;285|.	P05067-2;E9PEV0;E9PG40;B4DII8;P05067-10;P05067-4;P05067-8;P05067|.	.;.;.;.;.;.;.;A4_HUMAN|.	Q|T	285;229;285;285;285;285;250;280;229|206;75	ENSP00000284981:E285Q;ENSP00000346129:E229Q;ENSP00000345463:E285Q;ENSP00000350578:E285Q;ENSP00000351796:E285Q;ENSP00000352760:E285Q;ENSP00000388538:E250Q;ENSP00000387483:E280Q;ENSP00000398879:E229Q|.	ENSP00000284981:E285Q|.	E|R	-|-	1|2	0|0	APP|APP	26316039|26316039	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.226000|3.226000	0.51254|0.51254	2.319000|2.319000	0.78375|0.78375	0.563000|0.563000	0.77884|0.77884	GAG|AGA	APP	-	NULL	ENSG00000142192		0.527	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	APP	HGNC	protein_coding	OTTHUMT00000171340.1	187	0.00	0	C	NM_000484		27394168	27394168	-1	no_errors	ENST00000346798	ensembl	human	known	69_37n	missense	160	25.23	54	SNP	1.000	G
AQP10	89872	genome.wustl.edu	37	1	154295740	154295740	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:154295740G>A	ENST00000324978.3	+	4	434	c.394G>A	c.(394-396)Ggg>Agg	p.G132R	AQP10_ENST00000355197.4_3'UTR|ATP8B2_ENST00000368487.3_5'Flank|AQP10_ENST00000484864.1_Missense_Mutation_p.G132R	NM_080429.2	NP_536354.2	Q96PS8	AQP10_HUMAN	aquaporin 10	132					response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CTATACAGGTGGGAACCTGAC	0.537																																						dbGAP											0													106.0	107.0	107.0					1																	154295740		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF159174	CCDS1065.1	1q21.3	2008-02-05			ENSG00000143595	ENSG00000143595		"""Ion channels / Aquaporins"""	16029	protein-coding gene	gene with protein product		606578				11573934	Standard	NM_080429		Approved		uc001feu.3	Q96PS8	OTTHUMG00000035980	ENST00000324978.3:c.394G>A	1.37:g.154295740G>A	ENSP00000318355:p.Gly132Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VYD3|Q5VYD4|Q8NG70	Missense_Mutation	SNP	pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_3,tigrfam_Aquaporin	p.G132R	ENST00000324978.3	37	c.394	CCDS1065.1	1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.850943	0.91277	.	.	ENSG00000143595	ENST00000324978;ENST00000484864	T;T	0.12774	2.65;2.65	4.92	4.92	0.64577	Aquaporin-like (2);	0.056140	0.64402	D	0.000001	T	0.41328	0.1154	M	0.92833	3.35	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	0.988;1.0	T	0.54282	-0.8317	10	0.72032	D	0.01	.	16.9154	0.86149	0.0:0.0:1.0:0.0	.	132;132	Q96PS8-2;Q96PS8	.;AQP10_HUMAN	R	132	ENSP00000318355:G132R;ENSP00000420341:G132R	ENSP00000318355:G132R	G	+	1	0	AQP10	152562364	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.667000	0.83888	2.585000	0.87301	0.555000	0.69702	GGG	AQP10	-	pfam_MIP,superfamily_Aquaporin-like,tigrfam_Aquaporin	ENSG00000143595		0.537	AQP10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AQP10	HGNC	protein_coding	OTTHUMT00000087661.1	73	0.00	0	G	NM_080429		154295740	154295740	+1	no_errors	ENST00000324978	ensembl	human	known	69_37n	missense	101	16.39	20	SNP	1.000	A
ARAP1	116985	genome.wustl.edu	37	11	72406638	72406638	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:72406638C>G	ENST00000393609.3	-	25	3658	c.3456G>C	c.(3454-3456)gaG>gaC	p.E1152D	ARAP1_ENST00000455638.2_Missense_Mutation_p.E1152D|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000393605.3_Missense_Mutation_p.E912D|ARAP1_ENST00000426523.1_Missense_Mutation_p.E907D|ARAP1_ENST00000334211.8_Missense_Mutation_p.E907D|ARAP1_ENST00000429686.1_Missense_Mutation_p.E846D|ARAP1_ENST00000359373.5_Missense_Mutation_p.E1152D|ARAP1-AS1_ENST00000542022.1_RNA	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	1152					actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						TGGCAGTGATCTCCTCCCGCT	0.647																																					Ovarian(102;1198 1520 13195 17913 37529)	dbGAP											0													66.0	55.0	59.0					11																	72406638		2200	4293	6493	-	-	-	SO:0001583	missense	0			AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16925	protein-coding gene	gene with protein product		606646	"""centaurin, delta 2"""	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.3456G>C	11.37:g.72406638C>G	ENSP00000377233:p.Glu1152Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_Ras-assoc,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_ArfGAP,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.E1152D	ENST00000393609.3	37	c.3456	CCDS41687.1	11	.	.	.	.	.	.	.	.	.	.	C	17.86	3.492512	0.64074	.	.	ENSG00000186635	ENST00000359373;ENST00000455638;ENST00000393605;ENST00000334211;ENST00000393609;ENST00000426523;ENST00000429686	T;T;T;T;T;T;T	0.08984	3.04;3.04;3.05;3.1;3.03;3.11;3.06	4.95	0.741	0.18336	.	0.000000	0.64402	D	0.000001	T	0.16428	0.0395	L	0.52573	1.65	0.26104	N	0.980778	D;D;D;D;D	0.89917	0.999;0.988;0.997;1.0;1.0	D;P;D;D;D	0.76071	0.971;0.714;0.909;0.968;0.987	T	0.04178	-1.0971	10	0.66056	D	0.02	.	4.6462	0.12574	0.0:0.3364:0.1678:0.4958	.	907;846;1152;1152;912	E7EU13;B2RTS2;Q96P48-3;Q96P48;Q96P48-1	.;.;.;ARAP1_HUMAN;.	D	1152;1152;912;907;1152;907;846	ENSP00000352332:E1152D;ENSP00000390461:E1152D;ENSP00000377230:E912D;ENSP00000335506:E907D;ENSP00000377233:E1152D;ENSP00000392264:E907D;ENSP00000403127:E846D	ENSP00000335506:E907D	E	-	3	2	ARAP1	72084286	0.966000	0.33281	0.983000	0.44433	0.958000	0.62258	0.315000	0.19451	0.113000	0.18004	0.460000	0.39030	GAG	ARAP1	-	NULL	ENSG00000186635		0.647	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARAP1	HGNC	protein_coding	OTTHUMT00000347428.1	68	0.00	0	C	NM_001040118		72406638	72406638	-1	no_errors	ENST00000393609	ensembl	human	known	69_37n	missense	48	31.43	22	SNP	0.978	G
ARFGAP1	55738	genome.wustl.edu	37	20	61909529	61909529	+	Silent	SNP	G	G	T	rs200083303		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:61909529G>T	ENST00000370283.4	+	6	644	c.504G>T	c.(502-504)ctG>ctT	p.L168L	ARFGAP1_ENST00000370275.4_Silent_p.L168L|ARFGAP1_ENST00000547204.1_Silent_p.L94L|ARFGAP1_ENST00000353546.3_Silent_p.L168L|ARFGAP1_ENST00000519273.2_Silent_p.L55L|ARFGAP1_ENST00000519604.1_Silent_p.L115L	NM_018209.2	NP_060679.1	Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating protein 1	168					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|COPI coating of Golgi vesicle (GO:0048205)|endoplasmic reticulum unfolded protein response (GO:0030968)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cytosol (GO:0005829)|Golgi-associated vesicle membrane (GO:0030660)|synapse (GO:0045202)	ARF GTPase activator activity (GO:0008060)|GTPase activator activity (GO:0005096)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13	all_cancers(38;1.59e-09)					AAGACTGGCTGAATGATGACC	0.592																																						dbGAP											0													100.0	97.0	98.0					20																	61909529		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK001629	CCDS13515.1, CCDS13516.1, CCDS63326.1, CCDS63327.1, CCDS63328.1	20q13.33	2009-11-30	2002-08-20	2002-08-23	ENSG00000101199	ENSG00000101199		"""ADP-ribosylation factor GTPase activating proteins"""	15852	protein-coding gene	gene with protein product		608377	"""ADP-ribosylation factor 1 GTPase activating protein"""	ARF1GAP		11210549	Standard	NM_018209		Approved	FLJ10767, bA261N11.3	uc002yel.3	Q8N6T3	OTTHUMG00000032965	ENST00000370283.4:c.504G>T	20.37:g.61909529G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3U0|B7Z8H8|B7ZBI3|E1P5I9|E7EV62|Q6PK71|Q96KC4|Q96T02|Q9NSU3|Q9NVF6|Q9UIL0	Silent	SNP	pfam_ArfGAP,superfamily_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP	p.L168	ENST00000370283.4	37	c.504	CCDS13515.1	20																																																																																			ARFGAP1	-	NULL	ENSG00000101199		0.592	ARFGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGAP1	HGNC	protein_coding	OTTHUMT00000080134.3	80	0.00	0	G	NM_018209		61909529	61909529	+1	no_errors	ENST00000353546	ensembl	human	known	69_37n	silent	133	12.50	19	SNP	1.000	T
ARFGEF1	10565	genome.wustl.edu	37	8	68150640	68150640	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:68150640C>G	ENST00000262215.3	-	22	3616	c.3227G>C	c.(3226-3228)aGa>aCa	p.R1076T	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.R530T|ARFGEF1_ENST00000518230.1_5'UTR	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1076					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)			AGATCCTTCTCTGCCTCGCAC	0.398																																						dbGAP											0													98.0	89.0	92.0					8																	68150640		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.3227G>C	8.37:g.68150640C>G	ENSP00000262215:p.Arg1076Thr	Somatic		WXS	Illumina GAIIx	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.R1076T	ENST00000262215.3	37	c.3227	CCDS6199.1	8	.	.	.	.	.	.	.	.	.	.	C	15.88	2.964575	0.53507	.	.	ENSG00000066777	ENST00000520381;ENST00000262215	T;T	0.64438	-0.1;2.02	5.48	5.48	0.80851	Armadillo-type fold (1);	0.047302	0.85682	D	0.000000	T	0.56920	0.2018	L	0.36672	1.1	0.80722	D	1	B;B;B	0.23591	0.088;0.002;0.002	B;B;B	0.22386	0.039;0.004;0.004	T	0.54906	-0.8223	10	0.59425	D	0.04	.	19.3369	0.94322	0.0:1.0:0.0:0.0	.	1076;554;530	Q9Y6D6;Q59FY5;E5RIF2	BIG1_HUMAN;.;.	T	530;1076	ENSP00000428429:R530T;ENSP00000262215:R1076T	ENSP00000262215:R1076T	R	-	2	0	ARFGEF1	68313194	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.137000	0.50562	2.566000	0.86566	0.650000	0.86243	AGA	ARFGEF1	-	superfamily_ARM-type_fold	ENSG00000066777		0.398	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGEF1	HGNC	protein_coding	OTTHUMT00000379441.4	99	0.00	0	C	NM_006421		68150640	68150640	-1	no_errors	ENST00000262215	ensembl	human	known	69_37n	missense	78	24.27	25	SNP	1.000	G
ARFGEF2	10564	genome.wustl.edu	37	20	47587774	47587774	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:47587774C>G	ENST00000371917.4	+	10	1308	c.1308C>G	c.(1306-1308)ctC>ctG	p.L436L		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	436					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)			AGCAATATCTCTGTGTGGCCT	0.458																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	dbGAP											0													213.0	185.0	195.0					20																	47587774		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			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.1308C>G	20.37:g.47587774C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TFT9|Q9NTS1	Silent	SNP	pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7	p.L436	ENST00000371917.4	37	c.1308	CCDS13411.1	20																																																																																			ARFGEF2	-	superfamily_ARM-type_fold	ENSG00000124198		0.458	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGEF2	HGNC	protein_coding	OTTHUMT00000079627.1	178	0.00	0	C	NM_006420		47587774	47587774	+1	no_errors	ENST00000371917	ensembl	human	known	69_37n	silent	211	16.60	42	SNP	1.000	G
ARFGEF2	10564	genome.wustl.edu	37	20	47633848	47633848	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:47633848G>T	ENST00000371917.4	+	32	4378	c.4378G>T	c.(4378-4380)Gag>Tag	p.E1460*		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1460					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)	p.E1460K(1)		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)			ATCCAATGGAGAGAAATTCAG	0.368																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	dbGAP											1	Substitution - Missense(1)	skin(1)											105.0	100.0	101.0					20																	47633848		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			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.4378G>T	20.37:g.47633848G>T	ENSP00000360985:p.Glu1460*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TFT9|Q9NTS1	Nonsense_Mutation	SNP	pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7	p.E1460*	ENST00000371917.4	37	c.4378	CCDS13411.1	20	.	.	.	.	.	.	.	.	.	.	G	43	9.944979	0.99302	.	.	ENSG00000124198	ENST00000371917	.	.	.	5.46	5.46	0.80206	.	0.102251	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	15.1761	0.72913	0.0:0.1818:0.8182:0.0	.	.	.	.	X	1460	.	ENSP00000360985:E1460X	E	+	1	0	ARFGEF2	47067255	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.515000	0.60489	2.549000	0.85964	0.591000	0.81541	GAG	ARFGEF2	-	superfamily_ARM-type_fold	ENSG00000124198		0.368	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGEF2	HGNC	protein_coding	OTTHUMT00000079627.1	106	0.00	0	G	NM_006420		47633848	47633848	+1	no_errors	ENST00000371917	ensembl	human	known	69_37n	nonsense	140	13.58	22	SNP	1.000	T
ARHGAP17	55114	genome.wustl.edu	37	16	24953404	24953404	+	Nonsense_Mutation	SNP	G	G	C	rs186333747		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:24953404G>C	ENST00000289968.6	-	16	1463	c.1394C>G	c.(1393-1395)tCa>tGa	p.S465*	ARHGAP17_ENST00000303665.5_Nonsense_Mutation_p.S465*|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	465					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		AGTGTGGAATGAGTGATTAGA	0.488																																						dbGAP											0													109.0	107.0	108.0					16																	24953404		2197	4300	6497	-	-	-	SO:0001587	stop_gained	0			AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"""Rho GTPase activating proteins"""	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.1394C>G	16.37:g.24953404G>C	ENSP00000289968:p.Ser465*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Nonsense_Mutation	SNP	pfam_BAR_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom	p.S465*	ENST00000289968.6	37	c.1394	CCDS32409.1	16	.	.	.	.	.	.	.	.	.	.	G	37	6.290723	0.97449	.	.	ENSG00000140750	ENST00000289968;ENST00000303665;ENST00000455311	.	.	.	5.85	4.81	0.61882	.	0.232865	0.22326	N	0.061540	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	5.4894	0.16767	0.2245:0.0:0.7755:0.0	.	.	.	.	X	465	.	ENSP00000289968:S465X	S	-	2	0	ARHGAP17	24860905	0.994000	0.37717	0.996000	0.52242	0.889000	0.51656	2.868000	0.48436	2.773000	0.95371	0.655000	0.94253	TCA	ARHGAP17	-	NULL	ENSG00000140750		0.488	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP17	HGNC	protein_coding	OTTHUMT00000436548.3	69	0.00	0	G	NM_018054		24953404	24953404	-1	no_errors	ENST00000289968	ensembl	human	known	69_37n	nonsense	58	25.93	21	SNP	0.988	C
ARHGAP18	93663	genome.wustl.edu	37	6	129955247	129955247	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:129955247G>C	ENST00000368149.2	-	4	644	c.556C>G	c.(556-558)Cca>Gca	p.P186A		NM_033515.2	NP_277050.2			Rho GTPase activating protein 18											NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		GTGCCACCTGGAGCCTAAACA	0.358																																						dbGAP											0													111.0	101.0	104.0					6																	129955247		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB053293	CCDS34535.1	6q23.1	2011-06-29			ENSG00000146376	ENSG00000146376		"""Rho GTPase activating proteins"""	21035	protein-coding gene	gene with protein product		613351					Standard	NM_033515		Approved	MacGAP, bA307O14.2	uc003qbr.3	Q8N392	OTTHUMG00000015547	ENST00000368149.2:c.556C>G	6.37:g.129955247G>C	ENSP00000357131:p.Pro186Ala	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.P186A	ENST00000368149.2	37	c.556	CCDS34535.1	6	.	.	.	.	.	.	.	.	.	.	G	7.242	0.601541	0.13939	.	.	ENSG00000146376	ENST00000368149;ENST00000275189	.	.	.	5.18	4.31	0.51392	.	0.592256	0.17280	N	0.180033	T	0.15912	0.0383	L	0.47716	1.5	0.26649	N	0.972133	B;B	0.26318	0.146;0.012	B;B	0.24974	0.057;0.008	T	0.09729	-1.0661	8	.	.	.	.	7.7767	0.29041	0.227:0.0:0.773:0.0	.	186;186	A9UK01;Q8N392	.;RHG18_HUMAN	A	141;186	.	.	P	-	1	0	ARHGAP18	129996940	1.000000	0.71417	1.000000	0.80357	0.341000	0.28922	2.442000	0.44873	1.316000	0.45131	-0.133000	0.14855	CCA	ARHGAP18	-	NULL	ENSG00000146376		0.358	ARHGAP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP18	HGNC	protein_coding	OTTHUMT00000042185.2	119	0.00	0	G	NM_033515		129955247	129955247	-1	no_errors	ENST00000275189	ensembl	human	known	69_37n	missense	94	21.67	26	SNP	1.000	C
ARHGAP20	57569	genome.wustl.edu	37	11	110450375	110450375	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:110450375C>T	ENST00000260283.4	-	16	3579	c.3295G>A	c.(3295-3297)Gaa>Aaa	p.E1099K	ARHGAP20_ENST00000527598.1_Missense_Mutation_p.E1063K|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.E1073K|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.E1076K|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.E1073K|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.E1063K|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.E642K	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	1099					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		GACAGTCCTTCAGCTGCCCTT	0.532																																						dbGAP											0													73.0	75.0	74.0					11																	110450375		2201	4298	6499	-	-	-	SO:0001583	missense	0			AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"""Rho GTPase activating proteins"""	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.3295G>A	11.37:g.110450375C>T	ENSP00000260283:p.Glu1099Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Ras-assoc,pfscan_RhoGAP_dom	p.E1099K	ENST00000260283.4	37	c.3295	CCDS31673.1	11	.	.	.	.	.	.	.	.	.	.	C	13.69	2.312558	0.40895	.	.	ENSG00000137727	ENST00000260283;ENST00000357139;ENST00000529591;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	T;T;T;T;T;T;T	0.11930	2.73;2.73;2.79;2.73;2.74;2.73;2.74	5.59	1.48	0.22813	.	0.670270	0.14355	N	0.324807	T	0.08670	0.0215	L	0.31294	0.92	0.09310	N	1	B;B;B	0.13145	0.007;0.0;0.001	B;B;B	0.14578	0.011;0.001;0.003	T	0.35101	-0.9802	10	0.22109	T	0.4	.	6.7247	0.23350	0.0:0.6401:0.1308:0.229	.	1073;1099;1076	Q9P2F6-2;Q9P2F6;Q9P2F6-3	.;RHG20_HUMAN;.	K	1099;1073;642;1076;1063;1073;1063	ENSP00000260283:E1099K;ENSP00000349660:E1073K;ENSP00000437905:E642K;ENSP00000432076:E1076K;ENSP00000436319:E1063K;ENSP00000436522:E1073K;ENSP00000431399:E1063K	ENSP00000260283:E1099K	E	-	1	0	ARHGAP20	109955585	0.000000	0.05858	0.127000	0.21898	0.065000	0.16274	0.385000	0.20685	0.747000	0.32809	0.650000	0.86243	GAA	ARHGAP20	-	NULL	ENSG00000137727		0.532	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP20	HGNC	protein_coding	OTTHUMT00000390628.1	37	0.00	0	C	NM_020809		110450375	110450375	-1	no_errors	ENST00000260283	ensembl	human	known	69_37n	missense	23	46.51	20	SNP	0.000	T
ARHGAP20	57569	genome.wustl.edu	37	11	110501442	110501442	+	Missense_Mutation	SNP	T	T	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:110501442T>C	ENST00000260283.4	-	4	546	c.262A>G	c.(262-264)Att>Gtt	p.I88V	ARHGAP20_ENST00000527598.1_Missense_Mutation_p.I52V|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.I62V|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.I65V|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.I62V|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.I52V	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	88	PH.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		CGGCCATCAATCAGCAGAGTC	0.453																																						dbGAP											0													114.0	113.0	114.0					11																	110501442		2201	4298	6499	-	-	-	SO:0001583	missense	0			AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"""Rho GTPase activating proteins"""	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.262A>G	11.37:g.110501442T>C	ENSP00000260283:p.Ile88Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Ras-assoc,pfscan_RhoGAP_dom	p.I88V	ENST00000260283.4	37	c.262	CCDS31673.1	11	.	.	.	.	.	.	.	.	.	.	T	12.80	2.047997	0.36085	.	.	ENSG00000137727	ENST00000260283;ENST00000357139;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57;1.57	5.61	3.07	0.35406	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.710811	0.14720	N	0.302400	T	0.21550	0.0519	L	0.29908	0.895	0.22378	N	0.999156	P;P	0.39883	0.567;0.693	B;B	0.40199	0.171;0.322	T	0.09335	-1.0679	10	0.49607	T	0.09	.	5.4504	0.16563	0.0:0.088:0.3493:0.5627	.	88;65	Q9P2F6;Q9P2F6-3	RHG20_HUMAN;.	V	88;62;65;52;62;52	ENSP00000260283:I88V;ENSP00000349660:I62V;ENSP00000432076:I65V;ENSP00000436319:I52V;ENSP00000436522:I62V;ENSP00000431399:I52V	ENSP00000260283:I88V	I	-	1	0	ARHGAP20	110006652	0.634000	0.27190	0.997000	0.53966	0.563000	0.35712	0.338000	0.19858	0.911000	0.36747	0.454000	0.30748	ATT	ARHGAP20	-	smart_Pleckstrin_homology	ENSG00000137727		0.453	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP20	HGNC	protein_coding	OTTHUMT00000390628.1	63	0.00	0	T	NM_020809		110501442	110501442	-1	no_errors	ENST00000260283	ensembl	human	known	69_37n	missense	18	52.63	20	SNP	0.991	C
ARHGAP23	57636	genome.wustl.edu	37	17	36635701	36635701	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:36635701C>G	ENST00000431231.2	+	13	2529	c.2461C>G	c.(2461-2463)Ctg>Gtg	p.L821V	ARHGAP23_ENST00000443378.1_Missense_Mutation_p.L727V|ARHGAP23_ENST00000437668.3_Missense_Mutation_p.L821V	NM_001199417.1	NP_001186346.1	Q9P227	RHG23_HUMAN	Rho GTPase activating protein 23	821					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	GTPase activator activity (GO:0005096)			breast(2)|endometrium(8)|kidney(6)|lung(1)|skin(1)|stomach(2)	20						CAACCAAGCTCTGATCAGCAA	0.612																																						dbGAP											0													14.0	14.0	14.0					17																	36635701		692	1590	2282	-	-	-	SO:0001583	missense	0			AB040934	CCDS56027.1	17q12	2014-05-06			ENSG00000225485	ENSG00000275832		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	29293	protein-coding gene	gene with protein product		610590				10819331, 15254754	Standard	NM_001199417		Approved	KIAA1501	uc021twd.1	Q9P227	OTTHUMG00000188547	ENST00000431231.2:c.2461C>G	17.37:g.36635701C>G	ENSP00000393539:p.Leu821Val	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_PDZ,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.L821V	ENST00000431231.2	37	c.2461	CCDS56027.1	17	.	.	.	.	.	.	.	.	.	.	c	17.43	3.388035	0.61956	.	.	ENSG00000225485	ENST00000437668;ENST00000431231;ENST00000443378	T;T;T	0.79352	-1.26;-1.26;-1.26	5.13	5.13	0.70059	.	0.000000	0.64402	D	0.000002	D	0.84737	0.5538	M	0.64997	1.995	0.35674	D	0.813568	D;D	0.71674	0.996;0.998	D;D	0.83275	0.954;0.996	D	0.87559	0.2470	10	0.51188	T	0.08	.	11.0194	0.47709	0.0:0.9143:0.0:0.0857	.	821;821	Q9P227;Q9P227-2	RHG23_HUMAN;.	V	821;821;727	ENSP00000394153:L821V;ENSP00000393539:L821V;ENSP00000407333:L727V	ENSP00000393539:L821V	L	+	1	2	ARHGAP23	33889227	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.314000	0.65804	2.670000	0.90874	0.645000	0.84053	CTG	ARHGAP23	-	NULL	ENSG00000225485		0.612	ARHGAP23-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP23	HGNC	protein_coding	OTTHUMT00000441789.1	45	0.00	0	C	XM_290799		36635701	36635701	+1	no_errors	ENST00000431231	ensembl	human	known	69_37n	missense	24	29.41	10	SNP	1.000	G
ARHGAP28	79822	genome.wustl.edu	37	18	6908960	6908960	+	Splice_Site	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr18:6908960C>T	ENST00000383472.4	+	17	2136	c.2032C>T	c.(2032-2034)Cat>Tat	p.H678Y	ARHGAP28_ENST00000419673.2_Splice_Site_p.H519Y|ARHGAP28_ENST00000531294.1_Splice_Site_p.H514Y|ARHGAP28_ENST00000314319.3_Splice_Site_p.H519Y			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28	678					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				TTTTTTCAGTCATGGTTCATC	0.294																																						dbGAP											0													37.0	42.0	40.0					18																	6908960		2189	4290	6479	-	-	-	SO:0001630	splice_region_variant	0			BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756		"""Rho GTPase activating proteins"""	25509	protein-coding gene	gene with protein product		610592				10718198	Standard	NM_001010000		Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000383472.4:c.2031-1C>T	18.37:g.6908960C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.H519Y	ENST00000383472.4	37	c.1555		18	.	.	.	.	.	.	.	.	.	.	C	10.48	1.361853	0.24684	.	.	ENSG00000088756	ENST00000419673;ENST00000531294;ENST00000314319	T;T;T	0.07327	3.2;3.2;3.2	5.8	3.08	0.35506	.	.	.	.	.	T	0.04048	0.0113	N	0.12182	0.205	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.29366	-1.0014	9	0.06757	T	0.87	.	9.8913	0.41292	0.0:0.7754:0.0:0.2246	.	678	Q9P2N2	RHG28_HUMAN	Y	519;514;519	ENSP00000392660:H519Y;ENSP00000437262:H514Y;ENSP00000313506:H519Y	ENSP00000313506:H519Y	H	+	1	0	ARHGAP28	6898960	1.000000	0.71417	0.995000	0.50966	0.912000	0.54170	1.173000	0.31920	0.818000	0.34468	0.650000	0.86243	CAT	ARHGAP28	-	NULL	ENSG00000088756		0.294	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	ARHGAP28	HGNC	protein_coding	OTTHUMT00000442123.3	69	0.00	0	C	XM_371108	Missense_Mutation	6908960	6908960	+1	no_errors	ENST00000314319	ensembl	human	known	69_37n	missense	32	42.86	24	SNP	0.997	T
ARHGAP29	9411	genome.wustl.edu	37	1	94643593	94643593	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:94643593G>C	ENST00000260526.6	-	21	2793	c.2611C>G	c.(2611-2613)Caa>Gaa	p.Q871E	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	871	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of Rho GTPase activity (GO:0032321)|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)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		AAGCGTGCTTGATTTGAATAC	0.448																																						dbGAP											0													142.0	134.0	137.0					1																	94643593		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"""Rho GTPase activating proteins"""	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.2611C>G	1.37:g.94643593G>C	ENSP00000260526:p.Gln871Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom	p.Q871E	ENST00000260526.6	37	c.2611	CCDS748.1	1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.844491	0.51164	.	.	ENSG00000137962	ENST00000260526	T	0.23348	1.91	5.75	4.82	0.62117	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.000000	0.36932	N	0.002335	T	0.49321	0.1550	M	0.86864	2.845	0.80722	D	1	B;D	0.89917	0.099;1.0	B;D	0.87578	0.069;0.998	T	0.62779	-0.6782	10	0.87932	D	0	-14.6954	16.6638	0.85247	0.0:0.1299:0.8701:0.0	.	871;871	F8VWZ8;Q52LW3	.;RHG29_HUMAN	E	871	ENSP00000260526:Q871E	ENSP00000260526:Q871E	Q	-	1	0	ARHGAP29	94416181	1.000000	0.71417	0.844000	0.33320	0.049000	0.14656	7.607000	0.82883	1.389000	0.46526	0.563000	0.77884	CAA	ARHGAP29	-	superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000137962		0.448	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP29	HGNC	protein_coding	OTTHUMT00000029376.2	66	0.00	0	G	NM_004815		94643593	94643593	-1	no_errors	ENST00000260526	ensembl	human	known	69_37n	missense	71	20.22	18	SNP	1.000	C
ARHGAP39	80728	genome.wustl.edu	37	8	145763108	145763108	+	Intron	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:145763108C>T	ENST00000276826.5	-	6	2723				ARHGAP39_ENST00000528810.1_5'Flank|ARHGAP39_ENST00000540274.1_Intron|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.D871N			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39						axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GCCCTACCATCCGGCTCTTCA	0.567																																						dbGAP											0													160.0	168.0	165.0					8																	145763108		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0				CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"""Rho GTPase activating proteins"""	29351	protein-coding gene	gene with protein product	"""RhoGAP93B homolog (Drosophila)"", ""crossGAP homolog (Drosophila)"""	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.2522-3522G>A	8.37:g.145763108C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E1I1	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_MyTH4_dom,superfamily_Rho_GTPase_activation_prot,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_MyTH4_dom,smart_RhoGAP_dom,pfscan_MyTH4_dom,pfscan_WW_Rsp5_WWP,pfscan_RhoGAP_dom	p.D871N	ENST00000276826.5	37	c.2611		8	.	.	.	.	.	.	.	.	.	.	C	16.55	3.153431	0.57259	.	.	ENSG00000147799	ENST00000377307	T	0.63580	-0.05	4.95	4.95	0.65309	.	0.389536	0.26237	N	0.025539	T	0.44685	0.1305	N	0.22421	0.69	0.80722	D	1	P	0.43352	0.804	B	0.34489	0.184	T	0.43097	-0.9412	10	0.24483	T	0.36	.	15.6827	0.77385	0.0:1.0:0.0:0.0	.	871	Q9C0H5-2	.	N	871	ENSP00000366522:D871N	ENSP00000366522:D871N	D	-	1	0	ARHGAP39	145733916	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	2.278000	0.43426	2.297000	0.77311	0.561000	0.74099	GAT	ARHGAP39	-	pfscan_MyTH4_dom	ENSG00000147799		0.567	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	ARHGAP39	HGNC	protein_coding	OTTHUMT00000382509.1	195	0.51	1	C			145763108	145763108	-1	no_errors	ENST00000377307	ensembl	human	known	69_37n	missense	129	55.93	165	SNP	1.000	T
ARHGAP39	80728	genome.wustl.edu	37	8	145763136	145763136	+	Intron	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:145763136C>G	ENST00000276826.5	-	6	2723				ARHGAP39_ENST00000528810.1_5'Flank|ARHGAP39_ENST00000540274.1_Intron|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.K861N			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39						axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GCTTGGGTTTCTTTCTCAATT	0.547																																						dbGAP											0													200.0	204.0	203.0					8																	145763136		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0				CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"""Rho GTPase activating proteins"""	29351	protein-coding gene	gene with protein product	"""RhoGAP93B homolog (Drosophila)"", ""crossGAP homolog (Drosophila)"""	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.2522-3550G>C	8.37:g.145763136C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E1I1	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_MyTH4_dom,superfamily_Rho_GTPase_activation_prot,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_MyTH4_dom,smart_RhoGAP_dom,pfscan_MyTH4_dom,pfscan_WW_Rsp5_WWP,pfscan_RhoGAP_dom	p.K861N	ENST00000276826.5	37	c.2583		8	.	.	.	.	.	.	.	.	.	.	C	14.83	2.653567	0.47362	.	.	ENSG00000147799	ENST00000377307	D	0.91945	-2.94	4.95	4.95	0.65309	.	0.177747	0.46758	D	0.000280	D	0.87458	0.6182	L	0.44542	1.39	0.80722	D	1	B	0.12013	0.005	B	0.15052	0.012	D	0.83363	0.0003	10	0.44086	T	0.13	-46.899	9.3354	0.38047	0.0:0.902:0.0:0.098	.	861	Q9C0H5-2	.	N	861	ENSP00000366522:K861N	ENSP00000366522:K861N	K	-	3	2	ARHGAP39	145733944	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.976000	0.63785	2.297000	0.77311	0.561000	0.74099	AAG	ARHGAP39	-	pfam_MyTH4_dom,pfscan_MyTH4_dom	ENSG00000147799		0.547	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	ARHGAP39	HGNC	protein_coding	OTTHUMT00000382509.1	210	0.00	0	C			145763136	145763136	-1	no_errors	ENST00000377307	ensembl	human	known	69_37n	missense	278	12.26	39	SNP	1.000	G
ARHGAP4	393	genome.wustl.edu	37	X	153175227	153175227	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:153175227G>A	ENST00000350060.5	-	19	2423	c.2382C>T	c.(2380-2382)ctC>ctT	p.L794L	ARHGAP4_ENST00000393721.1_Silent_p.L616L|ARHGAP4_ENST00000370028.3_Silent_p.L834L|ARHGAP4_ENST00000467421.1_5'UTR|ARHGAP4_ENST00000370016.1_Silent_p.L773L|ARHGAP4_ENST00000537206.1_Silent_p.L771L	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	794	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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)					TGTGGGGGATGAGGCCCCGCA	0.716																																						dbGAP											0													13.0	15.0	14.0					X																	153175227		2191	4278	6469	-	-	-	SO:0001819	synonymous_variant	0			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.2382C>T	X.37:g.153175227G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14144|Q86UY3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_RhoGAP_dom,smart_SH3_domain,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.S283L	ENST00000350060.5	37	c.848	CCDS14736.1	X	.	.	.	.	.	.	.	.	.	.	G	2.038	-0.420709	0.04734	.	.	ENSG00000089820	ENST00000454164;ENST00000442172	.	.	.	4.44	4.44	0.53790	.	.	.	.	.	T	0.60314	0.2259	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58880	-0.7558	4	.	.	.	.	9.8858	0.41260	0.0:0.2037:0.7963:0.0	.	.	.	.	L	216;283	.	.	S	-	2	0	ARHGAP4	152828421	0.953000	0.32496	0.706000	0.30403	0.189000	0.23516	0.171000	0.16685	1.803000	0.52742	0.525000	0.51046	TCA	ARHGAP4	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000089820		0.716	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGAP4	HGNC	protein_coding	OTTHUMT00000061119.1	17	0.00	0	G	NM_001666		153175227	153175227	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000442172	ensembl	human	novel	69_37n	missense	1	80.00	4	SNP	1.000	A
ARHGAP40	343578	genome.wustl.edu	37	20	37252085	37252085	+	Missense_Mutation	SNP	C	C	T	rs545672595		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:37252085C>T	ENST00000373345.4	+	2	230	c.62C>T	c.(61-63)tCc>tTc	p.S21F		NM_001164431.1	NP_001157903.1	Q5TG30	RHG40_HUMAN	Rho GTPase activating protein 40	21					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)	1						GCTGGCTGTTCCACTGGAGTG	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		19502	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													65.0	62.0	63.0					20																	37252085		692	1591	2283	-	-	-	SO:0001583	missense	0			AL035419		20q11.23	2011-06-29	2010-04-14	2010-04-14	ENSG00000124143	ENSG00000124143		"""Rho GTPase activating proteins"""	16226	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 95"""	C20orf95			Standard	NM_001164431		Approved	dJ1100H13.4	uc021wdn.1	Q5TG30	OTTHUMG00000032453	ENST00000373345.4:c.62C>T	20.37:g.37252085C>T	ENSP00000362442:p.Ser21Phe	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.S21F	ENST00000373345.4	37	c.62		20	.	.	.	.	.	.	.	.	.	.	C	10.23	1.293302	0.23564	.	.	ENSG00000124143	ENST00000373345	T	0.23950	1.88	3.6	2.55	0.30701	.	.	.	.	.	T	0.16769	0.0403	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.23226	-1.0194	7	0.87932	D	0	.	10.6137	0.45436	0.1914:0.8086:0.0:0.0	.	.	.	.	F	21	ENSP00000362442:S21F	ENSP00000362442:S21F	S	+	2	0	ARHGAP40	36685499	0.788000	0.28762	0.021000	0.16686	0.002000	0.02628	1.167000	0.31847	1.760000	0.52011	0.644000	0.83932	TCC	ARHGAP40	-	NULL	ENSG00000124143		0.567	ARHGAP40-201	KNOWN	basic|appris_principal	protein_coding	ARHGAP40	HGNC	protein_coding		67	0.00	0	C	XM_293123		37252085	37252085	+1	no_errors	ENST00000373345	ensembl	human	known	69_37n	missense	99	20.80	26	SNP	0.017	T
ARHGAP40	343578	genome.wustl.edu	37	20	37270412	37270412	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:37270412C>G	ENST00000373345.4	+	10	1332	c.1164C>G	c.(1162-1164)ctC>ctG	p.L388L		NM_001164431.1	NP_001157903.1	Q5TG30	RHG40_HUMAN	Rho GTPase activating protein 40	388	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)	1						TTCACCTGCTCATCCTCATCC	0.582																																						dbGAP											0													172.0	170.0	171.0					20																	37270412		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AL035419		20q11.23	2011-06-29	2010-04-14	2010-04-14	ENSG00000124143	ENSG00000124143		"""Rho GTPase activating proteins"""	16226	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 95"""	C20orf95			Standard	NM_001164431		Approved	dJ1100H13.4	uc021wdn.1	Q5TG30	OTTHUMG00000032453	ENST00000373345.4:c.1164C>G	20.37:g.37270412C>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.H329D	ENST00000373345.4	37	c.985		20	.	.	.	.	.	.	.	.	.	.	C	8.423	0.846934	0.17034	.	.	ENSG00000124143	ENST00000243967	.	.	.	4.09	3.12	0.35913	.	.	.	.	.	T	0.59542	0.2201	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55630	-0.8111	4	.	.	.	.	9.9823	0.41821	0.0:0.8964:0.0:0.1036	.	.	.	.	D	329	.	.	H	+	1	0	ARHGAP40	36703826	1.000000	0.71417	0.998000	0.56505	0.931000	0.56810	1.110000	0.31147	0.915000	0.36847	0.435000	0.28638	CAT	ARHGAP40	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000124143		0.582	ARHGAP40-201	KNOWN	basic|appris_principal	protein_coding	ARHGAP40	HGNC	protein_coding		152	0.00	0	C	XM_293123		37270412	37270412	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000243967	ensembl	human	novel	69_37n	missense	171	14.50	29	SNP	1.000	G
ARHGAP42	143872	genome.wustl.edu	37	11	100792306	100792306	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:100792306G>C	ENST00000298815.8	+	6	571	c.568G>C	c.(568-570)Gaa>Caa	p.E190Q	ARHGAP42_ENST00000524892.2_Missense_Mutation_p.E156Q	NM_152432.2	NP_689645.2	A6NI28	RHG42_HUMAN	Rho GTPase activating protein 42	190	BAR.				signal transduction (GO:0007165)	intracellular (GO:0005622)	GTPase activator activity (GO:0005096)			endometrium(3)|skin(2)	5						AGAGGTCCAAGAAAAAAAGAA	0.323																																						dbGAP											0													48.0	40.0	42.0					11																	100792306		692	1588	2280	-	-	-	SO:0001583	missense	0					11q22.1	2012-04-19			ENSG00000165895	ENSG00000165895		"""Rho GTPase activating proteins"""	26545	protein-coding gene	gene with protein product		615936				18954304	Standard	NM_152432		Approved	FLJ32810, GRAF3	uc001pge.2	A6NI28	OTTHUMG00000167530	ENST00000298815.8:c.568G>C	11.37:g.100792306G>C	ENSP00000298815:p.Glu190Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96M56	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_RhoGAP_dom,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.E190Q	ENST00000298815.8	37	c.568		11	.	.	.	.	.	.	.	.	.	.	G	17.31	3.356972	0.61293	.	.	ENSG00000165895	ENST00000524892;ENST00000298815;ENST00000531183	T;T;T	0.25414	1.8;3.61;3.61	5.53	4.62	0.57501	IRSp53/MIM homology domain (IMD) (1);	0.096594	0.42420	D	0.000702	T	0.50956	0.1646	M	0.84219	2.685	0.80722	D	1	D	0.65815	0.995	P	0.61722	0.893	T	0.59606	-0.7423	10	0.87932	D	0	.	14.3325	0.66566	0.0712:0.0:0.9288:0.0	.	190	A6NI28	RHG42_HUMAN	Q	156;190;46	ENSP00000431776:E156Q;ENSP00000298815:E190Q;ENSP00000434304:E46Q	ENSP00000298815:E190Q	E	+	1	0	ARHGAP42	100297516	1.000000	0.71417	0.998000	0.56505	0.439000	0.31926	9.274000	0.95731	1.338000	0.45544	-0.253000	0.11424	GAA	ARHGAP42	-	NULL	ENSG00000165895		0.323	ARHGAP42-201	KNOWN	basic|appris_principal	protein_coding	ARHGAP42	HGNC	protein_coding		53	0.00	0	G	NM_152432		100792306	100792306	+1	no_errors	ENST00000298815	ensembl	human	known	69_37n	missense	24	31.43	11	SNP	1.000	C
ARHGAP9	64333	genome.wustl.edu	37	12	57869715	57869715	+	Splice_Site	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:57869715C>T	ENST00000356411.2	-	10	1351		c.e10-1		ARHGAP9_ENST00000424809.2_Splice_Site|ARHGAP9_ENST00000430041.2_Splice_Site|ARHGAP9_ENST00000550454.1_5'Flank|ARHGAP9_ENST00000550288.1_Splice_Site|ARHGAP9_ENST00000393791.3_Splice_Site|ARHGAP9_ENST00000393797.2_Splice_Site			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9						positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			TCGTGCGGATCTGAGGGCCAG	0.667																																						dbGAP											0													25.0	28.0	27.0					12																	57869715		2200	4293	6493	-	-	-	SO:0001630	splice_region_variant	0			AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.1213-1G>A	12.37:g.57869715C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Splice_Site	SNP	-	e9-1	ENST00000356411.2	37	c.1213-1		12	.	.	.	.	.	.	.	.	.	.	C	20.3	3.966457	0.74131	.	.	ENSG00000123329	ENST00000393791;ENST00000356411;ENST00000423291;ENST00000424809;ENST00000393797;ENST00000340423;ENST00000430041;ENST00000548139	.	.	.	3.97	3.97	0.46021	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.468	0.61266	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ARHGAP9	56155982	1.000000	0.71417	0.996000	0.52242	0.954000	0.61252	5.430000	0.66501	2.235000	0.73313	0.561000	0.74099	.	ARHGAP9	-	-	ENSG00000123329		0.667	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	ARHGAP9	HGNC	protein_coding		31	0.00	0	C	NM_032496	Intron	57869715	57869715	-1	no_errors	ENST00000356411	ensembl	human	known	69_37n	splice_site	32	15.79	6	SNP	1.000	T
ARHGAP9	64333	genome.wustl.edu	37	12	57870181	57870181	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:57870181C>T	ENST00000356411.2	-	8	1220	c.1082G>A	c.(1081-1083)cGa>cAa	p.R361Q	ARHGAP9_ENST00000424809.2_Missense_Mutation_p.R361Q|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.R177Q|ARHGAP9_ENST00000550454.1_5'UTR|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.R440Q|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.R361Q|ARHGAP9_ENST00000393797.2_Missense_Mutation_p.R432Q			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	361	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			CGGTGGCTCTCGGTAGAACAC	0.647																																						dbGAP											0													35.0	33.0	34.0					12																	57870181		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.1082G>A	12.37:g.57870181C>T	ENSP00000348782:p.Arg361Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_Rsp5_WWP,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_Rsp5_WWP,pfscan_RhoGAP_dom	p.R361Q	ENST00000356411.2	37	c.1082		12	.	.	.	.	.	.	.	.	.	.	C	21.6	4.174221	0.78452	.	.	ENSG00000123329	ENST00000393791;ENST00000356411;ENST00000423291;ENST00000424809;ENST00000393797;ENST00000340423;ENST00000430041;ENST00000548139;ENST00000552604	T;T;T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8;-0.8;-0.8	5.02	4.11	0.48088	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.071064	0.53938	D	0.000043	T	0.77329	0.4114	L	0.46157	1.445	0.38482	D	0.947743	D;D;D;D;P	0.89917	1.0;0.959;0.997;0.964;0.788	P;P;P;P;B	0.61658	0.892;0.473;0.827;0.602;0.288	T	0.79799	-0.1651	10	0.87932	D	0	.	8.4695	0.32977	0.0:0.8373:0.0:0.1627	.	440;361;361;361;177	Q6ZN13;Q9BRR9;Q9BRR9-2;E9PDX9;B4DVI3	.;RHG09_HUMAN;.;.;.	Q	361;361;31;361;432;410;177;177;146	ENSP00000377380:R361Q;ENSP00000348782:R361Q;ENSP00000394307:R361Q;ENSP00000377386:R432Q;ENSP00000397950:R177Q;ENSP00000449829:R177Q	ENSP00000344852:R410Q	R	-	2	0	ARHGAP9	56156448	0.992000	0.36948	0.999000	0.59377	0.492000	0.33523	3.244000	0.51399	2.503000	0.84419	0.655000	0.94253	CGA	ARHGAP9	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000123329		0.647	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	ARHGAP9	HGNC	protein_coding		25	0.00	0	C	NM_032496		57870181	57870181	-1	no_errors	ENST00000356411	ensembl	human	known	69_37n	missense	27	15.62	5	SNP	1.000	T
ARHGEF1	9138	genome.wustl.edu	37	19	42392344	42392344	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:42392344G>C	ENST00000354532.3	+	3	254	c.106G>C	c.(106-108)Gag>Cag	p.E36Q	ARHGEF1_ENST00000337665.4_Missense_Mutation_p.E51Q|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.E51Q|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.E36Q|ARHGEF1_ENST00000599846.1_Missense_Mutation_p.E36Q|ARHGEF1_ENST00000596957.1_Intron	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	36					cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		GAACGAGCTGGAGACAGTGAG	0.622																																						dbGAP											0													131.0	145.0	140.0					19																	42392344		2203	4300	6503	-	-	-	SO:0001583	missense	0			U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"""Rho guanine nucleotide exchange factors"""	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.106G>C	19.37:g.42392344G>C	ENSP00000346532:p.Glu36Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal-like,pfam_DH-domain,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.E51Q	ENST00000354532.3	37	c.151	CCDS12591.1	19	.	.	.	.	.	.	.	.	.	.	g	11.55	1.671439	0.29693	.	.	ENSG00000076928	ENST00000354532;ENST00000347545;ENST00000316079;ENST00000337665;ENST00000378152	T;T;T;T	0.67865	-0.21;-0.11;-0.22;-0.29	3.7	2.63	0.31362	.	0.589617	0.13853	N	0.358255	T	0.53254	0.1785	L	0.34521	1.04	0.26306	N	0.9779	B;B;B;B;B	0.30824	0.014;0.007;0.013;0.022;0.296	B;B;B;B;B	0.29942	0.004;0.004;0.004;0.007;0.109	T	0.49523	-0.8931	10	0.66056	D	0.02	-7.6972	8.5616	0.33514	0.1257:0.0:0.8743:0.0	.	51;51;36;36;96	Q6NX52;Q92888-3;Q92888-2;Q92888;Q8NF33	.;.;.;ARHG1_HUMAN;.	Q	36;36;72;51;51	ENSP00000346532:E36Q;ENSP00000344429:E36Q;ENSP00000337261:E51Q;ENSP00000367394:E51Q	ENSP00000323044:E72Q	E	+	1	0	ARHGEF1	47084184	1.000000	0.71417	1.000000	0.80357	0.734000	0.41952	2.801000	0.47908	0.658000	0.30925	0.448000	0.29417	GAG	ARHGEF1	-	NULL	ENSG00000076928		0.622	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGEF1	HGNC	protein_coding	OTTHUMT00000463360.1	100	0.00	0	G	NM_199002		42392344	42392344	+1	no_errors	ENST00000378152	ensembl	human	known	69_37n	missense	99	27.21	37	SNP	0.997	C
ARHGEF11	9826	genome.wustl.edu	37	1	156909698	156909698	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:156909698C>G	ENST00000361409.2	-	36	4360	c.3618G>C	c.(3616-3618)gaG>gaC	p.E1206D	ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.E622D|ARHGEF11_ENST00000368194.3_Missense_Mutation_p.E1246D	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1206					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)					GTCGCAGGTTCTCCACTGGAG	0.602																																						dbGAP											0													48.0	51.0	50.0					1																	156909698		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.3618G>C	1.37:g.156909698C>G	ENSP00000354644:p.Glu1206Asp	Somatic		WXS	Illumina GAIIx	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.E1246D	ENST00000361409.2	37	c.3738	CCDS1162.1	1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.464043	0.63513	.	.	ENSG00000132694	ENST00000368194;ENST00000361409;ENST00000315174	T;T;T	0.70869	-0.52;-0.51;-0.47	4.41	4.41	0.53225	.	0.000000	0.45867	D	0.000332	T	0.65903	0.2736	L	0.32530	0.975	0.38839	D	0.956018	D;D;D	0.69078	0.997;0.995;0.997	D;D;D	0.78314	0.99;0.978;0.991	T	0.69213	-0.5204	10	0.48119	T	0.1	-18.4813	8.1908	0.31368	0.0:0.8929:0.0:0.1071	.	622;1206;1246	F8W8P9;O15085;O15085-2	.;ARHGB_HUMAN;.	D	1246;1206;622	ENSP00000357177:E1246D;ENSP00000354644:E1206D;ENSP00000313470:E622D	ENSP00000313470:E622D	E	-	3	2	ARHGEF11	155176322	1.000000	0.71417	1.000000	0.80357	0.737000	0.42083	0.801000	0.27055	2.243000	0.73865	0.561000	0.74099	GAG	ARHGEF11	-	NULL	ENSG00000132694		0.602	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGEF11	HGNC	protein_coding	OTTHUMT00000098931.1	35	0.00	0	C	NM_198236		156909698	156909698	-1	no_errors	ENST00000368194	ensembl	human	known	69_37n	missense	46	11.54	6	SNP	1.000	G
ARHGEF15	22899	genome.wustl.edu	37	17	8216854	8216854	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:8216854C>G	ENST00000361926.3	+	4	1080	c.970C>G	c.(970-972)Cca>Gca	p.P324A	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.P324A	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	324					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						GAATACTCCTCCAGCAACTGT	0.557																																						dbGAP											0													116.0	125.0	122.0					17																	8216854		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.970C>G	17.37:g.8216854C>G	ENSP00000355026:p.Pro324Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6G1|Q8N449|Q9H8B4	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	p.P324A	ENST00000361926.3	37	c.970	CCDS11139.1	17	.	.	.	.	.	.	.	.	.	.	C	3.675	-0.066695	0.07273	.	.	ENSG00000198844	ENST00000361926;ENST00000455564;ENST00000421050	T;T	0.68479	-0.33;-0.33	5.08	3.1	0.35709	.	0.536816	0.19283	N	0.118117	T	0.49474	0.1559	L	0.27053	0.805	0.26377	N	0.976793	B;B	0.11235	0.004;0.004	B;B	0.08055	0.003;0.003	T	0.39881	-0.9592	10	0.42905	T	0.14	-1.7088	7.5609	0.27851	0.0:0.8091:0.0:0.1909	.	324;324	D3DTR7;O94989	.;ARHGF_HUMAN	A	324;114;324	ENSP00000355026:P324A;ENSP00000412505:P324A	ENSP00000355026:P324A	P	+	1	0	ARHGEF15	8157579	0.069000	0.21087	0.816000	0.32577	0.073000	0.16967	0.344000	0.19962	0.855000	0.35359	0.655000	0.94253	CCA	ARHGEF15	-	NULL	ENSG00000198844		0.557	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF15	HGNC	protein_coding	OTTHUMT00000226993.2	97	0.00	0	C	NM_173728		8216854	8216854	+1	no_errors	ENST00000361926	ensembl	human	known	69_37n	missense	102	22.14	29	SNP	0.715	G
ARHGEF15	22899	genome.wustl.edu	37	17	8222226	8222226	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:8222226G>C	ENST00000361926.3	+	12	2141	c.2031G>C	c.(2029-2031)aaG>aaC	p.K677N	AC135178.7_ENST00000458568.1_RNA|ARHGEF15_ENST00000421050.1_Missense_Mutation_p.K677N|ARHGEF15_ENST00000582060.1_3'UTR	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	677					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						CTCAGCCTAAGAGGTGAGTCC	0.647																																						dbGAP											0													121.0	133.0	129.0					17																	8222226		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.2031G>C	17.37:g.8222226G>C	ENSP00000355026:p.Lys677Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6G1|Q8N449|Q9H8B4	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	p.K677N	ENST00000361926.3	37	c.2031	CCDS11139.1	17	.	.	.	.	.	.	.	.	.	.	g	18.46	3.629318	0.67015	.	.	ENSG00000198844	ENST00000361926;ENST00000455564;ENST00000421050	D;D	0.88046	-2.33;-2.33	4.84	3.84	0.44239	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.91640	0.7358	M	0.72353	2.195	0.44635	D	0.997612	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.91191	0.4984	10	0.54805	T	0.06	-12.4513	11.2064	0.48771	0.0925:0.0:0.9075:0.0	.	677;677	D3DTR7;O94989	.;ARHGF_HUMAN	N	677;467;677	ENSP00000355026:K677N;ENSP00000412505:K677N	ENSP00000355026:K677N	K	+	3	2	ARHGEF15	8162951	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	3.546000	0.53656	2.517000	0.84864	0.561000	0.74099	AAG	ARHGEF15	-	NULL	ENSG00000198844		0.647	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF15	HGNC	protein_coding	OTTHUMT00000226993.2	43	0.00	0	G	NM_173728		8222226	8222226	+1	no_errors	ENST00000361926	ensembl	human	known	69_37n	missense	32	28.89	13	SNP	1.000	C
ARHGEF15	22899	genome.wustl.edu	37	17	8222653	8222653	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:8222653G>C	ENST00000361926.3	+	14	2320	c.2210G>C	c.(2209-2211)gGa>gCa	p.G737A	AC135178.7_ENST00000458568.1_RNA|ARHGEF15_ENST00000421050.1_Missense_Mutation_p.G737A	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	737					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						CGCTGGCTGGGAGCCTTCCCA	0.582																																						dbGAP											0													96.0	105.0	102.0					17																	8222653		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.2210G>C	17.37:g.8222653G>C	ENSP00000355026:p.Gly737Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6G1|Q8N449|Q9H8B4	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	p.G737A	ENST00000361926.3	37	c.2210	CCDS11139.1	17	.	.	.	.	.	.	.	.	.	.	g	12.93	2.086577	0.36855	.	.	ENSG00000198844	ENST00000361926;ENST00000455564;ENST00000421050	D;D	0.87029	-2.2;-2.2	5.34	5.34	0.76211	Pleckstrin homology-type (1);	0.052081	0.85682	D	0.000000	T	0.64670	0.2619	N	0.01109	-1.01	0.41451	D	0.987989	P;P	0.38863	0.65;0.65	B;B	0.36186	0.219;0.219	T	0.70313	-0.4906	10	0.15499	T	0.54	-12.5544	12.1391	0.53989	0.0:0.172:0.828:0.0	.	737;737	D3DTR7;O94989	.;ARHGF_HUMAN	A	737;527;737	ENSP00000355026:G737A;ENSP00000412505:G737A	ENSP00000355026:G737A	G	+	2	0	ARHGEF15	8163378	1.000000	0.71417	1.000000	0.80357	0.659000	0.38960	2.578000	0.46051	2.780000	0.95670	0.561000	0.74099	GGA	ARHGEF15	-	NULL	ENSG00000198844		0.582	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF15	HGNC	protein_coding	OTTHUMT00000226993.2	40	0.00	0	G	NM_173728		8222653	8222653	+1	no_errors	ENST00000361926	ensembl	human	known	69_37n	missense	29	30.95	13	SNP	1.000	C
ARHGEF28	64283	genome.wustl.edu	37	5	73205405	73205405	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:73205405C>T	ENST00000426542.2	+	33	4350	c.4330C>T	c.(4330-4332)Cag>Tag	p.Q1444*	ARHGEF28_ENST00000437974.1_Nonsense_Mutation_p.Q1444*|ARHGEF28_ENST00000545377.1_Nonsense_Mutation_p.Q1444*|ARHGEF28_ENST00000287898.5_Nonsense_Mutation_p.Q1400*|ARHGEF28_ENST00000512883.1_Nonsense_Mutation_p.Q364*|ARHGEF28_ENST00000513042.2_Nonsense_Mutation_p.Q1444*|ARHGEF28_ENST00000296794.6_Nonsense_Mutation_p.Q1444*|ARHGEF28_ENST00000296799.4_Nonsense_Mutation_p.Q1131*			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	1444	Interaction with microtubules. {ECO:0000250}.				central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)										GCACCAGCTTCAGCACCAGCT	0.687																																						dbGAP											0													8.0	9.0	8.0					5																	73205405		2086	4195	6281	-	-	-	SO:0001587	stop_gained	0				CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.4330C>T	5.37:g.73205405C>T	ENSP00000412175:p.Gln1444*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Nonsense_Mutation	SNP	pfam_DH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.Q1444*	ENST00000426542.2	37	c.4330	CCDS54870.1	5	.	.	.	.	.	.	.	.	.	.	C	17.08	3.298685	0.60195	.	.	ENSG00000214944	ENST00000296794;ENST00000545377;ENST00000513042;ENST00000287898;ENST00000437974;ENST00000426542;ENST00000296799;ENST00000512883	.	.	.	5.34	5.34	0.76211	.	0.000000	0.29924	U	0.010857	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	15.4081	0.74897	0.1396:0.8604:0.0:0.0	.	.	.	.	X	1444;1444;1444;1400;1444;1444;1131;364	.	ENSP00000287898:Q1400X	Q	+	1	0	RP11-428C6.1	73241161	1.000000	0.71417	0.053000	0.19242	0.025000	0.11179	4.618000	0.61211	2.509000	0.84616	0.555000	0.69702	CAG	ARHGEF28	-	NULL	ENSG00000214944		0.687	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGEF28	HGNC	protein_coding	OTTHUMT00000368975.1	16	0.00	0	C			73205405	73205405	+1	no_errors	ENST00000545377	ensembl	human	known	69_37n	nonsense	5	44.44	4	SNP	0.485	T
ARHGEF3	50650	genome.wustl.edu	37	3	56771351	56771351	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:56771351G>C	ENST00000296315.3	-	8	1071	c.903C>G	c.(901-903)atC>atG	p.I301M	ARHGEF3_ENST00000495373.1_Missense_Mutation_p.I301M|ARHGEF3_ENST00000413728.2_Missense_Mutation_p.I307M|ARHGEF3_ENST00000497267.1_Missense_Mutation_p.I272M|ARHGEF3_ENST00000496106.1_Missense_Mutation_p.I307M|ARHGEF3_ENST00000338458.4_Missense_Mutation_p.I333M	NM_019555.2	NP_062455.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	301	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|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)|intracellular (GO:0005622)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		TCTTGGTGTTGATTTCTGCCA	0.423																																						dbGAP											0													60.0	62.0	62.0					3																	56771351		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB209661	CCDS2878.1, CCDS46854.1, CCDS46855.1, CCDS74948.1	3p14.3	2012-09-20			ENSG00000163947	ENSG00000163947		"""Rho guanine nucleotide exchange factors"""	683	protein-coding gene	gene with protein product	"""exchange factor found in platelets and leukemic and neuronal tissues, XPLN"", ""RhoGEF protein"""	612115				10873612	Standard	NM_019555		Approved	STA3, XPLN, GEF3, DKFZP434F2429	uc003dih.2	Q9NR81	OTTHUMG00000158857	ENST00000296315.3:c.903C>G	3.37:g.56771351G>C	ENSP00000296315:p.Ile301Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5U7|Q4FZB6|Q4QQI5|Q4QQQ0|Q59F00|Q6NUN3|Q7Z4U2|Q7Z5T2|Q9H7T4	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.I333M	ENST00000296315.3	37	c.999	CCDS2878.1	3	.	.	.	.	.	.	.	.	.	.	G	17.79	3.475530	0.63737	.	.	ENSG00000163947	ENST00000296315;ENST00000338458;ENST00000413728;ENST00000496106;ENST00000497267;ENST00000495373	T;T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25;-0.25	5.94	4.15	0.48705	Dbl homology (DH) domain (5);Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.80737	0.4680	M	0.91140	3.18	0.48452	D	0.999658	P;P;P;P;P;P;P	0.41947	0.648;0.648;0.596;0.648;0.596;0.766;0.596	P;P;P;P;P;P;P	0.57960	0.723;0.723;0.654;0.723;0.601;0.83;0.601	T	0.82016	-0.0666	10	0.87932	D	0	-9.74	5.4922	0.16783	0.2089:0.0:0.6462:0.1448	.	307;272;99;301;333;301;307	E9PG37;E7EU49;Q9NR81-4;C9J586;Q9NR81-2;Q9NR81;Q9NR81-3	.;.;.;.;.;ARHG3_HUMAN;.	M	301;333;307;307;272;301	ENSP00000296315:I301M;ENSP00000341071:I333M;ENSP00000410922:I307M;ENSP00000420420:I307M;ENSP00000418826:I272M;ENSP00000417986:I301M	ENSP00000296315:I301M	I	-	3	3	ARHGEF3	56746391	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.915000	0.56409	1.533000	0.49186	0.561000	0.74099	ATC	ARHGEF3	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_Pleckstrin_homology,pfscan_DH-domain	ENSG00000163947		0.423	ARHGEF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF3	HGNC	protein_coding	OTTHUMT00000352431.2	48	0.00	0	G	NM_019555		56771351	56771351	-1	no_errors	ENST00000338458	ensembl	human	known	69_37n	missense	66	20.48	17	SNP	1.000	C
ARHGEF3	50650	genome.wustl.edu	37	3	56789060	56789060	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:56789060G>A	ENST00000296315.3	-	3	492	c.324C>T	c.(322-324)ttC>ttT	p.F108F	ARHGEF3_ENST00000495373.1_Silent_p.F108F|ARHGEF3_ENST00000413728.2_Silent_p.F114F|ARHGEF3_ENST00000497267.1_Silent_p.F79F|ARHGEF3_ENST00000496106.1_Silent_p.F114F|ARHGEF3_ENST00000338458.4_Silent_p.F140F|ARHGEF3_ENST00000498517.1_5'UTR	NM_019555.2	NP_062455.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	108					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|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)|intracellular (GO:0005622)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		CGCACACATCGAAGGTCTCAC	0.582																																						dbGAP											0													162.0	144.0	151.0					3																	56789060		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB209661	CCDS2878.1, CCDS46854.1, CCDS46855.1, CCDS74948.1	3p14.3	2012-09-20			ENSG00000163947	ENSG00000163947		"""Rho guanine nucleotide exchange factors"""	683	protein-coding gene	gene with protein product	"""exchange factor found in platelets and leukemic and neuronal tissues, XPLN"", ""RhoGEF protein"""	612115				10873612	Standard	NM_019555		Approved	STA3, XPLN, GEF3, DKFZP434F2429	uc003dih.2	Q9NR81	OTTHUMG00000158857	ENST00000296315.3:c.324C>T	3.37:g.56789060G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5U7|Q4FZB6|Q4QQI5|Q4QQQ0|Q59F00|Q6NUN3|Q7Z4U2|Q7Z5T2|Q9H7T4	Nonsense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,pfscan_DH-domain	p.R159*	ENST00000296315.3	37	c.475	CCDS2878.1	3																																																																																			ARHGEF3	-	superfamily_DH-domain	ENSG00000163947		0.582	ARHGEF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF3	HGNC	protein_coding	OTTHUMT00000352431.2	80	0.00	0	G	NM_019555		56789060	56789060	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000465659	ensembl	human	known	69_37n	nonsense	86	20.37	22	SNP	0.998	A
ARHGEF40	55701	genome.wustl.edu	37	14	21544939	21544939	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:21544939G>A	ENST00000298694.4	+	8	2051	c.1924G>A	c.(1924-1926)Gag>Aag	p.E642K	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.E642K			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	642						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						ACAGGGTGCTGAGGTGCTGTC	0.587																																						dbGAP											0													56.0	59.0	58.0					14																	21544939		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801		"""Rho guanine nucleotide exchange factors"""	25516	protein-coding gene	gene with protein product		610018				16143467	Standard	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		ENST00000298694.4:c.1924G>A	14.37:g.21544939G>A	ENSP00000298694:p.Glu642Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.E642K	ENST00000298694.4	37	c.1924	CCDS32041.1	14	.	.	.	.	.	.	.	.	.	.	G	18.00	3.525870	0.64860	.	.	ENSG00000165801	ENST00000298694;ENST00000298693	T;T	0.02709	4.25;4.19	5.76	5.76	0.90799	.	0.000000	0.51477	D	0.000083	T	0.08714	0.0216	L	0.51422	1.61	0.39810	D	0.972698	D	0.67145	0.996	P	0.55391	0.775	T	0.01988	-1.1234	10	0.56958	D	0.05	.	15.4576	0.75327	0.0:0.0:1.0:0.0	.	642	Q8TER5	ARH40_HUMAN	K	642	ENSP00000298694:E642K;ENSP00000298693:E642K	ENSP00000298693:E642K	E	+	1	0	ARHGEF40	20614779	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	3.457000	0.53007	2.715000	0.92844	0.561000	0.74099	GAG	ARHGEF40	-	NULL	ENSG00000165801		0.587	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF40	HGNC	protein_coding	OTTHUMT00000413122.1	53	0.00	0	G			21544939	21544939	+1	no_errors	ENST00000298694	ensembl	human	known	69_37n	missense	41	19.61	10	SNP	1.000	A
ARHGEF5	7984	genome.wustl.edu	37	7	144068317	144068317	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:144068317C>T	ENST00000056217.5	+	6	3769	c.3595C>T	c.(3595-3597)Cat>Tat	p.H1199Y	ARHGEF5_ENST00000471847.2_Missense_Mutation_p.H121Y	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	1199	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					AGCTGTGGATCATTTCCAACT	0.488																																						dbGAP											0													84.0	83.0	84.0					7																	144068317		2201	4296	6497	-	-	-	SO:0001583	missense	0			U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"""Rho guanine nucleotide exchange factors"""	13209	protein-coding gene	gene with protein product	"""transforming immortalized mammary oncogene"", ""guanine nucleotide regulatory protein TIM"""	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.3595C>T	7.37:g.144068317C>T	ENSP00000056217:p.His1199Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NNJ2|Q6ZML7	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.H1199Y	ENST00000056217.5	37	c.3595	CCDS34771.1	7	.	.	.	.	.	.	.	.	.	.	C	19.02	3.746712	0.69418	.	.	ENSG00000050327	ENST00000056217;ENST00000344879;ENST00000471847	T;T	0.28454	1.61;1.61	4.79	4.79	0.61399	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.57257	0.2041	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.985;0.998	T	0.63042	-0.6725	10	0.87932	D	0	-8.5194	15.6627	0.77199	0.0:1.0:0.0:0.0	.	54;1199	B3KQX6;Q12774	.;ARHG5_HUMAN	Y	1199;54;121	ENSP00000056217:H1199Y;ENSP00000418227:H121Y	ENSP00000056217:H1199Y	H	+	1	0	ARHGEF5	143699250	1.000000	0.71417	0.997000	0.53966	0.631000	0.37964	7.228000	0.78079	2.376000	0.81061	0.555000	0.69702	CAT	ARHGEF5	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000050327		0.488	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF5	HGNC	protein_coding	OTTHUMT00000349981.1	149	0.00	0	C	NM_005435		144068317	144068317	+1	no_errors	ENST00000056217	ensembl	human	known	69_37n	missense	162	11.48	21	SNP	1.000	T
ARHGEF9	23229	genome.wustl.edu	37	X	62944579	62944579	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:62944579C>T	ENST00000253401.6	-	2	822	c.22G>A	c.(22-24)Gat>Aat	p.D8N	ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.D6N|ARHGEF9_ENST00000374870.4_Intron|ARHGEF9_ENST00000374872.1_5'UTR|ARHGEF9_ENST00000437457.2_Intron	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	8	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|ion transmembrane transport (GO:0034220)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						ACGATGGAATCTCCAGTGATC	0.507																																						dbGAP											0													123.0	86.0	98.0					X																	62944579		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007884	CCDS35315.1, CCDS55429.1, CCDS55430.1	Xq11.1	2013-01-10			ENSG00000131089	ENSG00000131089		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14561	protein-coding gene	gene with protein product	"""collybistin"""	300429				10559246, 9455477	Standard	NM_015185		Approved	KIAA0424, PEM-2	uc011mot.2	O43307	OTTHUMG00000021700	ENST00000253401.6:c.22G>A	X.37:g.62944579C>T	ENSP00000253401:p.Asp8Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1S8|B4DHC7|F8W7P8|Q5JSL6	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.D8N	ENST00000253401.6	37	c.22	CCDS35315.1	X	.	.	.	.	.	.	.	.	.	.	c	19.02	3.745883	0.69418	.	.	ENSG00000131089	ENST00000253401;ENST00000374878	T;T	0.72167	-0.61;-0.63	5.2	5.2	0.72013	Src homology-3 domain (1);	0.070523	0.56097	U	0.000029	T	0.46833	0.1413	N	0.03608	-0.345	0.80722	D	1	B;B	0.30584	0.286;0.018	B;B	0.29077	0.098;0.038	T	0.49934	-0.8886	10	0.11485	T	0.65	.	16.2799	0.82672	0.0:1.0:0.0:0.0	.	6;8	B1AMR4;O43307	.;ARHG9_HUMAN	N	8;6	ENSP00000253401:D8N;ENSP00000364012:D6N	ENSP00000253401:D8N	D	-	1	0	ARHGEF9	62861304	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.467000	0.80930	2.147000	0.66899	0.482000	0.46254	GAT	ARHGEF9	-	pfscan_SH3_domain	ENSG00000131089		0.507	ARHGEF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF9	HGNC	protein_coding	OTTHUMT00000056937.1	51	0.00	0	C			62944579	62944579	-1	no_errors	ENST00000253401	ensembl	human	known	69_37n	missense	42	23.64	13	SNP	1.000	T
ARID1A	8289	genome.wustl.edu	37	1	27099940	27099940	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:27099940G>A	ENST00000324856.7	+	15	4190	c.3819G>A	c.(3817-3819)atG>atA	p.M1273I	ARID1A_ENST00000374152.2_Missense_Mutation_p.M890I|ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000457599.2_Missense_Mutation_p.M1273I	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1273					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)	p.G1274fs*7(2)|p.M1273fs(1)	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)		ATGTGGCGATGGGACCACGAC	0.607			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	dbGAP		Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	3	Deletion - Frameshift(2)|Complex(1)	liver(3)											73.0	65.0	68.0					1																	27099940		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.3819G>A	1.37:g.27099940G>A	ENSP00000320485:p.Met1273Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	NULL	p.W43*	ENST00000324856.7	37	c.128	CCDS285.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.18|13.18	2.161456|2.161456	0.38119|0.38119	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000430799|ENST00000324856;ENST00000457599;ENST00000374152	.|T;T;T	.|0.02890	.|4.37;4.12;4.2	5.02|5.02	5.02|5.02	0.67125|0.67125	.|.	.|0.039834	.|0.85682	.|D	.|0.000000	T|T	0.03871|0.03871	0.0109|0.0109	L|L	0.49778|0.49778	1.585|1.585	0.80722|0.80722	D|D	1|1	.|B;B;B;B	.|0.31581	.|0.228;0.329;0.008;0.005	.|B;B;B;B	.|0.27796	.|0.083;0.065;0.011;0.005	T|T	0.51293|0.51293	-0.8724|-0.8724	5|10	.|0.30854	.|T	.|0.27	-3.045|-3.045	13.5032|13.5032	0.61469|0.61469	0.0:0.0:0.844:0.156|0.0:0.0:0.844:0.156	.|.	.|890;1273;1273;926	.|O14497-3;O14497;O14497-2;Q4LE49	.|.;ARI1A_HUMAN;.;.	R|I	170|1273;1273;890	.|ENSP00000320485:M1273I;ENSP00000387636:M1273I;ENSP00000363267:M890I	.|ENSP00000320485:M1273I	G|M	+|+	1|3	0|0	ARID1A|ARID1A	26972527|26972527	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.396000|7.396000	0.79891|0.79891	2.627000|2.627000	0.88993|0.88993	0.655000|0.655000	0.94253|0.94253	GGG|ATG	ARID1A	-	NULL	ENSG00000117713		0.607	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2	47	0.00	0	G	NM_139135		27099940	27099940	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000466382	ensembl	human	known	69_37n	nonsense	36	26.00	13	SNP	1.000	A
ARID2	196528	genome.wustl.edu	37	12	46231193	46231193	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:46231193G>C	ENST00000334344.6	+	9	1285	c.1113G>C	c.(1111-1113)aaG>aaC	p.K371N	ARID2_ENST00000422737.1_Missense_Mutation_p.K222N|ARID2_ENST00000444670.1_5'UTR|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	371					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)		GATTTTTAAAGATGAGAGGTG	0.299			"""N, S, F"""		hepatocellular carcinoma																																	dbGAP		Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	0													68.0	74.0	72.0					12																	46231193		2202	4296	6498	-	-	-	SO:0001583	missense	0				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.1113G>C	12.37:g.46231193G>C	ENSP00000335044:p.Lys371Asn	Somatic		WXS	Illumina GAIIx	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.K371N	ENST00000334344.6	37	c.1113	CCDS31783.1	12	.	.	.	.	.	.	.	.	.	.	G	15.92	2.976243	0.53720	.	.	ENSG00000189079	ENST00000334344;ENST00000422737	T;T	0.51817	0.69;0.69	5.33	4.33	0.51752	.	0.108249	0.64402	D	0.000004	T	0.54549	0.1865	L	0.47716	1.5	0.80722	D	1	D;D;D	0.76494	0.999;0.981;0.999	D;D;D	0.83275	0.996;0.921;0.991	T	0.58763	-0.7579	10	0.72032	D	0.01	1.1748	3.4748	0.07581	0.3722:0.0:0.6278:0.0	.	371;222;371	Q68CP9-3;F8WCU9;Q68CP9	.;.;ARID2_HUMAN	N	371;222	ENSP00000335044:K371N;ENSP00000415650:K222N	ENSP00000335044:K371N	K	+	3	2	ARID2	44517460	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	3.053000	0.49901	2.486000	0.83907	0.313000	0.20887	AAG	ARID2	-	superfamily_ARM-type_fold	ENSG00000189079		0.299	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID2	HGNC	protein_coding	OTTHUMT00000318380.2	64	0.00	0	G	XM_350875		46231193	46231193	+1	no_errors	ENST00000334344	ensembl	human	known	69_37n	missense	51	15.00	9	SNP	1.000	C
ARID3A	1820	genome.wustl.edu	37	19	929830	929830	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:929830C>T	ENST00000263620.3	+	2	629	c.302C>T	c.(301-303)tCa>tTa	p.S101L	AC005391.2_ENST00000585647.1_RNA	NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	101	Glu-rich.					cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|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 positive regulation of transcription (GO:0001228)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		ACACCGGGCTCACCCGGGCGA	0.721																																					Pancreas(29;54 1022 32760 50921)	dbGAP											0													11.0	17.0	15.0					19																	929830		1983	3952	5935	-	-	-	SO:0001583	missense	0			U88047	CCDS12050.1	19p13.3	2013-02-07	2006-11-08	2004-01-30		ENSG00000116017		"""-"""	3031	protein-coding gene	gene with protein product		603265	"""dead ringer-like 1 (Drosophila)"", ""AT rich interactive domain 3A (BRIGHT- like)"""	DRIL1		9722953	Standard	NM_005224		Approved	BRIGHT	uc002lql.3	Q99856		ENST00000263620.3:c.302C>T	19.37:g.929830C>T	ENSP00000263620:p.Ser101Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5I858|Q6P9C6|Q8IZA7|Q8N4Z3	Missense_Mutation	SNP	pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.S101L	ENST00000263620.3	37	c.302	CCDS12050.1	19	.	.	.	.	.	.	.	.	.	.	C	14.20	2.464562	0.43736	.	.	ENSG00000116017	ENST00000263620	T	0.40225	1.04	3.1	3.1	0.35709	.	2.128390	0.02705	N	0.112194	T	0.32882	0.0844	N	0.24115	0.695	0.09310	N	1	B	0.33694	0.421	B	0.29862	0.108	T	0.33624	-0.9861	10	0.59425	D	0.04	.	9.5038	0.39033	0.0:1.0:0.0:0.0	.	101	Q99856	ARI3A_HUMAN	L	101	ENSP00000263620:S101L	ENSP00000263620:S101L	S	+	2	0	ARID3A	880830	.	.	0.039000	0.18376	0.011000	0.07611	.	.	1.586000	0.49944	0.491000	0.48974	TCA	ARID3A	-	NULL	ENSG00000116017		0.721	ARID3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID3A	HGNC	protein_coding	OTTHUMT00000458219.1	22	0.00	0	C	NM_005224		929830	929830	+1	no_errors	ENST00000263620	ensembl	human	known	69_37n	missense	11	31.25	5	SNP	0.020	T
ARID3A	1820	genome.wustl.edu	37	19	964348	964348	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:964348C>G	ENST00000263620.3	+	5	1194	c.867C>G	c.(865-867)atC>atG	p.I289M		NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	289	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.					cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|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 positive regulation of transcription (GO:0001228)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		TGGAGGTCATCAACAAGAAGC	0.602																																					Pancreas(29;54 1022 32760 50921)	dbGAP											0													174.0	126.0	142.0					19																	964348		2203	4299	6502	-	-	-	SO:0001583	missense	0			U88047	CCDS12050.1	19p13.3	2013-02-07	2006-11-08	2004-01-30		ENSG00000116017		"""-"""	3031	protein-coding gene	gene with protein product		603265	"""dead ringer-like 1 (Drosophila)"", ""AT rich interactive domain 3A (BRIGHT- like)"""	DRIL1		9722953	Standard	NM_005224		Approved	BRIGHT	uc002lql.3	Q99856		ENST00000263620.3:c.867C>G	19.37:g.964348C>G	ENSP00000263620:p.Ile289Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5I858|Q6P9C6|Q8IZA7|Q8N4Z3	Missense_Mutation	SNP	pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.I289M	ENST00000263620.3	37	c.867	CCDS12050.1	19	.	.	.	.	.	.	.	.	.	.	C	16.09	3.023349	0.54683	.	.	ENSG00000116017	ENST00000263620	T	0.63417	-0.04	4.5	4.5	0.54988	ARID/BRIGHT DNA-binding domain (5);	0.048208	0.85682	D	0.000000	T	0.78110	0.4232	M	0.85373	2.75	0.80722	D	1	D	0.67145	0.996	D	0.76071	0.987	T	0.80670	-0.1279	10	0.87932	D	0	-2.4251	8.525	0.33300	0.0:0.8916:0.0:0.1084	.	289	Q99856	ARI3A_HUMAN	M	289	ENSP00000263620:I289M	ENSP00000263620:I289M	I	+	3	3	ARID3A	915348	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.242000	0.43106	2.061000	0.61500	0.561000	0.74099	ATC	ARID3A	-	pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	ENSG00000116017		0.602	ARID3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID3A	HGNC	protein_coding	OTTHUMT00000458219.1	73	0.00	0	C	NM_005224		964348	964348	+1	no_errors	ENST00000263620	ensembl	human	known	69_37n	missense	75	20.21	19	SNP	1.000	G
ARL13A	392509	genome.wustl.edu	37	X	100240741	100240741	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:100240741G>C	ENST00000450049.2	+	4	329	c.216G>C	c.(214-216)ctG>ctC	p.L72L		NM_001162491.1	NP_001155963.1	Q5H913	AR13A_HUMAN	ADP-ribosylation factor-like 13A	72					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			endometrium(1)|ovary(1)	2						TCTATGACCTGAATGGAGACC	0.478																																						dbGAP											0													118.0	110.0	113.0					X																	100240741		1928	4122	6050	-	-	-	SO:0001819	synonymous_variant	0				CCDS55463.1	Xq22.1	2014-05-09	2005-11-18	2005-11-18	ENSG00000174225	ENSG00000174225		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	31709	protein-coding gene	gene with protein product			"""ADP-ribosylation factor-like 13"""	ARL13			Standard	NM_001162491		Approved		uc011mrf.2	Q5H913	OTTHUMG00000022013	ENST00000450049.2:c.216G>C	X.37:g.100240741G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTT6|B4DX50	Silent	SNP	pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Small_GTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR	p.L72	ENST00000450049.2	37	c.216	CCDS55463.1	X																																																																																			ARL13A	-	pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Small_GTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1	ENSG00000174225		0.478	ARL13A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ARL13A	HGNC	protein_coding	OTTHUMT00000057504.2	122	0.00	0	G	XM_373358		100240741	100240741	+1	no_errors	ENST00000450457	ensembl	human	known	69_37n	silent	83	27.83	32	SNP	0.830	C
ARL14EP	120534	genome.wustl.edu	37	11	30358242	30358242	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:30358242C>G	ENST00000282032.3	+	4	898	c.683C>G	c.(682-684)tCt>tGt	p.S228C		NM_152316.1	NP_689529.1	Q8N8R7	AL14E_HUMAN	ADP-ribosylation factor-like 14 effector protein	228	Cys-rich.					cytoplasm (GO:0005737)		p.S228Y(1)									GCCTGTGGTTCTACCAAGTGT	0.448																																						dbGAP											1	Substitution - Missense(1)	lung(1)											221.0	184.0	197.0					11																	30358242		2202	4299	6501	-	-	-	SO:0001583	missense	0			AK096287	CCDS7869.1	11p14.1	2014-09-17	2012-07-09	2012-07-09	ENSG00000152219	ENSG00000152219			26798	protein-coding gene	gene with protein product		612295	"""chromosome 11 open reading frame 46"""	C11orf46		21458045	Standard	XM_005252792		Approved	FLJ38968, ARF7EP	uc001mso.1	Q8N8R7	OTTHUMG00000166154	ENST00000282032.3:c.683C>G	11.37:g.30358242C>G	ENSP00000282032:p.Ser228Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5HYH9	Missense_Mutation	SNP	NULL	p.S228C	ENST00000282032.3	37	c.683	CCDS7869.1	11	.	.	.	.	.	.	.	.	.	.	C	31	5.084093	0.94100	.	.	ENSG00000152219	ENST00000282032	T	0.78003	-1.14	5.65	5.65	0.86999	.	0.106859	0.64402	D	0.000003	D	0.89227	0.6655	M	0.81112	2.525	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.89669	0.3882	10	0.87932	D	0	-39.1373	20.0965	0.97849	0.0:1.0:0.0:0.0	.	228	Q8N8R7	CK046_HUMAN	C	228	ENSP00000282032:S228C	ENSP00000282032:S228C	S	+	2	0	C11orf46	30314818	1.000000	0.71417	0.869000	0.34112	0.991000	0.79684	7.770000	0.85390	2.824000	0.97209	0.655000	0.94253	TCT	ARL14EP	-	NULL	ENSG00000152219		0.448	ARL14EP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL14EP	HGNC	protein_coding	OTTHUMT00000388129.1	165	0.00	0	C	NM_152316		30358242	30358242	+1	no_errors	ENST00000282032	ensembl	human	known	69_37n	missense	157	14.21	26	SNP	1.000	G
ARMC5	79798	genome.wustl.edu	37	16	31473254	31473254	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:31473254C>T	ENST00000563544.1	+	3	1033	c.487C>T	c.(487-489)Cag>Tag	p.Q163*	ARMC5_ENST00000412665.2_5'UTR|ARMC5_ENST00000408912.3_Nonsense_Mutation_p.Q258*|ARMC5_ENST00000268314.4_Nonsense_Mutation_p.Q163*|ARMC5_ENST00000538189.1_Nonsense_Mutation_p.Q195*|RP11-452L6.5_ENST00000564629.1_RNA|ARMC5_ENST00000457010.2_Nonsense_Mutation_p.Q163*			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	163										central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GACCATTCTTCAGTGCATGAA	0.542																																						dbGAP											0													125.0	129.0	128.0					16																	31473254		2067	4201	6268	-	-	-	SO:0001587	stop_gained	0			AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"""Armadillo repeat containing"""	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.487C>T	16.37:g.31473254C>T	ENSP00000456877:p.Gln163*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86WM9|Q9H7P8|Q9H925	Nonsense_Mutation	SNP	superfamily_ARM-type_fold,superfamily_BTB/POZ_fold,smart_Armadillo,pfscan_Armadillo,pfscan_BTB/POZ-like	p.Q258*	ENST00000563544.1	37	c.772	CCDS45472.1	16	.	.	.	.	.	.	.	.	.	.	c	37	6.458862	0.97585	.	.	ENSG00000140691	ENST00000408912;ENST00000538189;ENST00000268314;ENST00000457010	.	.	.	4.15	4.15	0.48705	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.387	9.2657	0.37639	0.215:0.785:0.0:0.0	.	.	.	.	X	258;195;163;163	.	ENSP00000268314:Q163X	Q	+	1	0	ARMC5	31380755	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.639000	0.61361	2.168000	0.68352	0.556000	0.70494	CAG	ARMC5	-	superfamily_ARM-type_fold,smart_Armadillo	ENSG00000140691		0.542	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC5	HGNC	protein_coding	OTTHUMT00000432847.1	90	0.00	0	C	NM_024742		31473254	31473254	+1	no_errors	ENST00000408912	ensembl	human	known	69_37n	nonsense	58	30.12	25	SNP	1.000	T
ARMC5	79798	genome.wustl.edu	37	16	31473948	31473948	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:31473948C>G	ENST00000563544.1	+	4	1626	c.1080C>G	c.(1078-1080)atC>atG	p.I360M	ARMC5_ENST00000412665.2_Intron|ARMC5_ENST00000408912.3_Missense_Mutation_p.I455M|ARMC5_ENST00000268314.4_Missense_Mutation_p.I360M|ARMC5_ENST00000538189.1_Missense_Mutation_p.I392M|RP11-452L6.5_ENST00000564629.1_RNA|ARMC5_ENST00000457010.2_Missense_Mutation_p.I360M			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	360										central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GTGAGGCCATCAACCGGGCCC	0.652																																						dbGAP											0													44.0	49.0	48.0					16																	31473948		2010	4171	6181	-	-	-	SO:0001583	missense	0			AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"""Armadillo repeat containing"""	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.1080C>G	16.37:g.31473948C>G	ENSP00000456877:p.Ile360Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86WM9|Q9H7P8|Q9H925	Missense_Mutation	SNP	superfamily_ARM-type_fold,superfamily_BTB/POZ_fold,smart_Armadillo,pfscan_Armadillo,pfscan_BTB/POZ-like	p.I455M	ENST00000563544.1	37	c.1365	CCDS45472.1	16	.	.	.	.	.	.	.	.	.	.	c	15.59	2.879267	0.51801	.	.	ENSG00000140691	ENST00000408912;ENST00000538189;ENST00000268314;ENST00000457010	T;T;T;T	0.22134	1.97;1.97;1.97;1.97	4.77	2.3	0.28687	Armadillo-like helical (1);Armadillo-type fold (1);	0.185100	0.49305	D	0.000142	T	0.33089	0.0851	L	0.47716	1.5	0.80722	D	1	D;D;D;D	0.76494	0.997;0.997;0.997;0.999	D;D;D;D	0.70016	0.931;0.931;0.931;0.967	T	0.02632	-1.1131	10	0.48119	T	0.1	-19.3851	8.8358	0.35111	0.0:0.7522:0.0:0.2478	.	392;455;360;360	F5H156;B4DIU9;Q96C12;Q96C12-4	.;.;ARMC5_HUMAN;.	M	455;392;360;360	ENSP00000386125:I455M;ENSP00000443995:I392M;ENSP00000268314:I360M;ENSP00000399561:I360M	ENSP00000268314:I360M	I	+	3	3	ARMC5	31381449	0.994000	0.37717	1.000000	0.80357	0.878000	0.50629	0.207000	0.17395	0.907000	0.36646	0.457000	0.33378	ATC	ARMC5	-	superfamily_ARM-type_fold,smart_Armadillo	ENSG00000140691		0.652	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC5	HGNC	protein_coding	OTTHUMT00000432847.1	59	0.00	0	C	NM_024742		31473948	31473948	+1	no_errors	ENST00000408912	ensembl	human	known	69_37n	missense	29	54.69	35	SNP	1.000	G
ARMCX1	51309	genome.wustl.edu	37	X	100808037	100808037	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:100808037G>A	ENST00000372829.3	+	4	495	c.124G>A	c.(124-126)Gag>Aag	p.E42K		NM_016608.1	NP_057692.1	Q9P291	ARMX1_HUMAN	armadillo repeat containing, X-linked 1	42						integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1)	19						GGACGAAGACGAGGAGTCTAC	0.552																																						dbGAP											0													91.0	78.0	82.0					X																	100808037		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB039670	CCDS14487.1	Xq21.33-q22.2	2014-03-21			ENSG00000126947	ENSG00000126947		"""Armadillo repeat containing"""	18073	protein-coding gene	gene with protein product		300362				11162520, 16221301, 22569362	Standard	NM_016608		Approved	ALEX1, GASP7	uc004ehv.3	Q9P291	OTTHUMG00000022033	ENST00000372829.3:c.124G>A	X.37:g.100808037G>A	ENSP00000361917:p.Glu42Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53HK2|Q9H2Q0	Missense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.E42K	ENST00000372829.3	37	c.124	CCDS14487.1	X	.	.	.	.	.	.	.	.	.	.	g	14.97	2.695069	0.48202	.	.	ENSG00000126947	ENST00000372829	T	0.22134	1.97	3.6	0.772	0.18510	.	1.460060	0.05026	N	0.473790	T	0.12390	0.0301	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.30679	-0.9970	10	0.23302	T	0.38	-0.3835	3.3513	0.07154	0.2616:0.2158:0.5226:0.0	.	42	Q9P291	ARMX1_HUMAN	K	42	ENSP00000361917:E42K	ENSP00000361917:E42K	E	+	1	0	ARMCX1	100694693	0.876000	0.30132	0.003000	0.11579	0.069000	0.16628	1.591000	0.36665	0.029000	0.15352	-1.169000	0.01745	GAG	ARMCX1	-	NULL	ENSG00000126947		0.552	ARMCX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMCX1	HGNC	protein_coding	OTTHUMT00000057561.1	89	0.00	0	G	NM_016608		100808037	100808037	+1	no_errors	ENST00000372829	ensembl	human	known	69_37n	missense	57	29.63	24	SNP	0.003	A
ARPC2	10109	genome.wustl.edu	37	2	219114175	219114175	+	Missense_Mutation	SNP	C	C	G	rs150855660	byFrequency	TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:219114175C>G	ENST00000295685.10	+	8	1026	c.765C>G	c.(763-765)atC>atG	p.I255M	ARPC2_ENST00000315717.5_Missense_Mutation_p.I255M|ARPC2_ENST00000477992.1_3'UTR	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN	actin related protein 2/3 complex, subunit 2, 34kDa	255					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		ACTACCACATCAAGTGCTCTA	0.532																																						dbGAP											0													137.0	102.0	114.0					2																	219114175		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF006085	CCDS2410.1	2q36.1	2011-07-06	2002-08-29		ENSG00000163466	ENSG00000163466		"""Actin related protein 2/3 complex subunits"""	705	protein-coding gene	gene with protein product		604224	"""actin related protein 2/3 complex, subunit 2 (34 kD)"""			9359840, 9230079	Standard	NM_005731		Approved	p34-Arc, ARC34	uc002vhd.4	O15144	OTTHUMG00000133618	ENST00000295685.10:c.765C>G	2.37:g.219114175C>G	ENSP00000295685:p.Ile255Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q92801|Q9P1D4	Missense_Mutation	SNP	pfam_P34-arc	p.I255M	ENST00000295685.10	37	c.765	CCDS2410.1	2	.	.	.	.	.	.	.	.	.	.	C	19.31	3.802798	0.70682	.	.	ENSG00000163466	ENST00000315717;ENST00000295685;ENST00000456575	.	.	.	6.17	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.86900	0.6044	H	0.95365	3.66	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90750	0.4656	9	0.87932	D	0	.	14.6875	0.69059	0.0:0.9302:0.0:0.0698	.	255	O15144	ARPC2_HUMAN	M	255;255;70	.	ENSP00000295685:I255M	I	+	3	3	ARPC2	218822420	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.931000	0.48932	1.598000	0.50083	0.655000	0.94253	ATC	ARPC2	-	pfam_P34-arc	ENSG00000163466		0.532	ARPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARPC2	HGNC	protein_coding	OTTHUMT00000256777.2	87	0.00	0	C	NM_005731		219114175	219114175	+1	no_errors	ENST00000295685	ensembl	human	known	69_37n	missense	88	17.59	19	SNP	1.000	G
ARPC5	10092	genome.wustl.edu	37	1	183604716	183604716	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:183604716C>T	ENST00000359856.6	-	1	145	c.79G>A	c.(79-81)Gaa>Aaa	p.E27K	RGL1_ENST00000536277.1_5'Flank|ARPC5_ENST00000462965.1_5'Flank|RGL1_ENST00000304685.4_5'Flank|ARPC5_ENST00000294742.6_Missense_Mutation_p.E27K|ARPC5_ENST00000367534.1_Missense_Mutation_p.E27K	NM_005717.3	NP_005708.1	O15511	ARPC5_HUMAN	actin related protein 2/3 complex, subunit 5, 16kDa	27					actin cytoskeleton organization (GO:0030036)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|large_intestine(1)|lung(2)	4						CCATCTTCTTCGTCCACGAAC	0.632																																					Melanoma(136;1596 1789 3041 4830 41075)	dbGAP											0													73.0	55.0	61.0					1																	183604716		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF017807	CCDS1357.1, CCDS58050.1	1q	2011-07-06	2002-08-29		ENSG00000162704	ENSG00000162704		"""Actin related protein 2/3 complex subunits"""	708	protein-coding gene	gene with protein product	"""Arp2/3 protein complex subunit p16"""	604227	"""actin related protein 2/3 complex, subunit 5 (16 kD)"""			9359840, 9230079	Standard	NM_005717		Approved	p16-Arc, ARC16, dJ127C7.3	uc021pgb.2	O15511	OTTHUMG00000035326	ENST00000359856.6:c.79G>A	1.37:g.183604716C>T	ENSP00000352918:p.Glu27Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEC4|Q6PG42	Missense_Mutation	SNP	pfam_ARP2/3_p16_Arc,superfamily_ARP2/3_p16_Arc	p.E27K	ENST00000359856.6	37	c.79	CCDS1357.1	1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822520	0.90873	.	.	ENSG00000162704	ENST00000367534;ENST00000359856;ENST00000294742	.	.	.	5.54	4.62	0.57501	.	0.111795	0.64402	D	0.000015	T	0.58538	0.2129	M	0.87971	2.92	0.53005	D	0.999968	P	0.51933	0.949	B	0.35688	0.208	T	0.66056	-0.6018	9	0.30078	T	0.28	-30.194	15.2365	0.73436	0.0:0.8584:0.1416:0.0	.	27	O15511	ARPC5_HUMAN	K	27	.	ENSP00000294742:E27K	E	-	1	0	ARPC5	181871339	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.210000	0.77924	1.326000	0.45319	-0.282000	0.10007	GAA	ARPC5	-	pfam_ARP2/3_p16_Arc,superfamily_ARP2/3_p16_Arc	ENSG00000162704		0.632	ARPC5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARPC5	HGNC	protein_coding	OTTHUMT00000085477.1	23	0.00	0	C	NM_005717		183604716	183604716	-1	no_errors	ENST00000294742	ensembl	human	known	69_37n	missense	18	37.93	11	SNP	1.000	T
ARPP21	10777	genome.wustl.edu	37	3	35748557	35748557	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:35748557G>T	ENST00000187397.4	+	10	1234	c.778G>T	c.(778-780)Gat>Tat	p.D260Y	ARPP21_ENST00000444190.1_Missense_Mutation_p.D260Y|ARPP21_ENST00000417925.1_Missense_Mutation_p.D260Y|ARPP21_ENST00000458225.1_Missense_Mutation_p.D260Y|ARPP21_ENST00000337271.5_Missense_Mutation_p.D260Y	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	260	SUZ. {ECO:0000255|PROSITE- ProRule:PRU01009}.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CTCTAGTATTGATAAAGAAGA	0.418																																						dbGAP											0													88.0	91.0	90.0					3																	35748557		2203	4300	6503	-	-	-	SO:0001583	missense	0			AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.778G>T	3.37:g.35748557G>T	ENSP00000187397:p.Asp260Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd	p.D260Y	ENST00000187397.4	37	c.778	CCDS2661.1	3	.	.	.	.	.	.	.	.	.	.	G	20.2	3.957874	0.73902	.	.	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	T;T;T;T;T	0.45668	1.6;1.65;1.65;0.89;1.6	6.07	6.07	0.98685	SUZ domain (1);	0.000000	0.85682	D	0.000000	T	0.67608	0.2911	M	0.74881	2.28	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.998	D;D;D	0.73708	0.979;0.981;0.968	T	0.67577	-0.5635	10	0.72032	D	0.01	-19.9992	20.6593	0.99626	0.0:0.0:1.0:0.0	.	260;260;260	Q9UBL0-3;Q9UBL0;Q9UBL0-4	.;ARP21_HUMAN;.	Y	260	ENSP00000414351:D260Y;ENSP00000337792:D260Y;ENSP00000405276:D260Y;ENSP00000187397:D260Y;ENSP00000412326:D260Y	ENSP00000187397:D260Y	D	+	1	0	ARPP21	35723561	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.004000	0.93583	2.885000	0.99019	0.655000	0.94253	GAT	ARPP21	-	NULL	ENSG00000172995		0.418	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARPP21	HGNC	protein_coding	OTTHUMT00000253334.2	82	0.00	0	G	NM_198399		35748557	35748557	+1	no_errors	ENST00000417925	ensembl	human	known	69_37n	missense	91	14.15	15	SNP	1.000	T
ARSE	415	genome.wustl.edu	37	X	2853180	2853180	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:2853180C>G	ENST00000381134.3	-	11	1529	c.1463G>C	c.(1462-1464)gGa>gCa	p.G488A	ARSE_ENST00000540563.1_Missense_Mutation_p.G443A|ARSE_ENST00000545496.1_Missense_Mutation_p.G513A	NM_000047.2	NP_000038.2	P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	488					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		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)				GGCACCGGCTCCCTCTGGCTG	0.507																																						dbGAP											0													58.0	47.0	50.0					X																	2853180		2203	4300	6503	-	-	-	SO:0001583	missense	0			X83573	CCDS14122.1, CCDS75948.1, CCDS75949.1	Xp22.33	2013-02-14			ENSG00000157399	ENSG00000157399		"""Arylsulfatase family"""	719	protein-coding gene	gene with protein product		300180		CDPX, CDPX1		7720070	Standard	NM_000047		Approved		uc004crc.4	P51690	OTTHUMG00000137358	ENST00000381134.3:c.1463G>C	X.37:g.2853180C>G	ENSP00000370526:p.Gly488Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53FT2|Q53FU8	Missense_Mutation	SNP	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.G513A	ENST00000381134.3	37	c.1538	CCDS14122.1	X	.	.	.	.	.	.	.	.	.	.	C	8.004	0.755935	0.15846	.	.	ENSG00000157399	ENST00000540563;ENST00000545496;ENST00000381134	D;D;D	0.90324	-2.65;-2.65;-2.65	3.45	3.45	0.39498	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.94036	0.8089	M	0.85630	2.765	0.47905	D	0.999544	P;P;P	0.45902	0.84;0.84;0.868	P;P;P	0.59012	0.657;0.657;0.85	D	0.93627	0.6953	10	0.56958	D	0.05	.	9.3495	0.38129	0.0:0.8863:0.0:0.1137	.	443;513;488	F5H324;F5GYY5;P51690	.;.;ARSE_HUMAN	A	443;513;488	ENSP00000438198:G443A;ENSP00000441417:G513A;ENSP00000370526:G488A	ENSP00000370526:G488A	G	-	2	0	ARSE	2863180	0.923000	0.31300	0.008000	0.14137	0.149000	0.21700	2.243000	0.43115	1.346000	0.45694	0.284000	0.19432	GGA	ARSE	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	ENSG00000157399		0.507	ARSE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSE	HGNC	protein_coding	OTTHUMT00000055643.1	51	0.00	0	C	NM_000047		2853180	2853180	-1	no_errors	ENST00000545496	ensembl	human	known	69_37n	missense	69	22.47	20	SNP	0.885	G
ARSG	22901	genome.wustl.edu	37	17	66416409	66416409	+	Silent	SNP	T	T	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:66416409T>C	ENST00000448504.2	+	12	2179	c.1383T>C	c.(1381-1383)gaT>gaC	p.D461D	ARSG_ENST00000452479.2_Silent_p.D297D|WIPI1_ENST00000589459.1_5'Flank|ARSG_ENST00000582154.1_3'UTR|RP11-120M18.2_ENST00000592030.1_RNA	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	461					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sulfur compound metabolic process (GO:0006790)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular space (GO:0005615)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			TGGAAGACGATACCGCAGAAG	0.557																																						dbGAP											0													137.0	122.0	127.0					17																	66416409		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB023218	CCDS11676.1	17q24.2	2013-07-15	2006-02-15		ENSG00000141337	ENSG00000141337		"""Arylsulfatase family"""	24102	protein-coding gene	gene with protein product		610008				12461688, 16174644	Standard	NM_014960		Approved	KIAA1001	uc002jhc.2	Q96EG1	OTTHUMG00000179810	ENST00000448504.2:c.1383T>C	17.37:g.66416409T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UXF2|Q9Y2K4	Silent	SNP	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.D461	ENST00000448504.2	37	c.1383	CCDS11676.1	17																																																																																			ARSG	-	superfamily_Alkaline_phosphatase_core	ENSG00000141337		0.557	ARSG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSG	HGNC	protein_coding	OTTHUMT00000448369.1	71	0.00	0	T	NM_014960		66416409	66416409	+1	no_errors	ENST00000448504	ensembl	human	known	69_37n	silent	139	12.03	19	SNP	0.003	C
ARVCF	421	genome.wustl.edu	37	22	19960535	19960535	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:19960535C>T	ENST00000263207.3	-	15	2754	c.2463G>A	c.(2461-2463)gcG>gcA	p.A821A	ARVCF_ENST00000406259.1_Silent_p.A815A|ARVCF_ENST00000401994.1_Silent_p.A758A|ARVCF_ENST00000406522.1_Silent_p.A752A|ARVCF_ENST00000344269.3_Silent_p.A758A	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	821					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					CGTGTGACGCCGCCTTCGCTT	0.682																																						dbGAP											0													122.0	106.0	111.0					22																	19960535		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"""Armadillo repeat containing"""	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.2463G>A	22.37:g.19960535C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7WNV2	Silent	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.A821	ENST00000263207.3	37	c.2463	CCDS13771.1	22																																																																																			ARVCF	-	superfamily_ARM-type_fold,smart_Armadillo	ENSG00000099889		0.682	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARVCF	HGNC	protein_coding	OTTHUMT00000075314.5	38	0.00	0	C	NM_001670		19960535	19960535	-1	no_errors	ENST00000263207	ensembl	human	known	69_37n	silent	40	33.33	20	SNP	0.265	T
ARVCF	421	genome.wustl.edu	37	22	19961757	19961757	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:19961757C>G	ENST00000263207.3	-	12	2257	c.1966G>C	c.(1966-1968)Gag>Cag	p.E656Q	ARVCF_ENST00000406259.1_Missense_Mutation_p.E650Q|ARVCF_ENST00000401994.1_Missense_Mutation_p.E593Q|ARVCF_ENST00000406522.1_Missense_Mutation_p.E587Q|ARVCF_ENST00000344269.3_Missense_Mutation_p.E593Q	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	656					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					TACAGCAGCTCAAAGCCTAGG	0.637																																						dbGAP											0													42.0	40.0	41.0					22																	19961757		2202	4300	6502	-	-	-	SO:0001583	missense	0				CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"""Armadillo repeat containing"""	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.1966G>C	22.37:g.19961757C>G	ENSP00000263207:p.Glu656Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B7WNV2	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.E656Q	ENST00000263207.3	37	c.1966	CCDS13771.1	22	.	.	.	.	.	.	.	.	.	.	C	22.9	4.346098	0.82022	.	.	ENSG00000099889	ENST00000263207;ENST00000344269;ENST00000401994;ENST00000406522;ENST00000406259	D;D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58;-1.58	4.68	4.68	0.58851	Armadillo-like helical (1);Armadillo-type fold (1);	0.051026	0.85682	D	0.000000	D	0.89822	0.6826	M	0.69248	2.105	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.89399	0.3694	9	.	.	.	-25.5774	16.8906	0.86086	0.0:1.0:0.0:0.0	.	656;172	O00192;E7EV58	ARVC_HUMAN;.	Q	656;593;593;587;650	ENSP00000263207:E656Q;ENSP00000342042:E593Q;ENSP00000384341:E593Q;ENSP00000384732:E587Q;ENSP00000385444:E650Q	.	E	-	1	0	ARVCF	18341757	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	5.707000	0.68370	2.596000	0.87737	0.561000	0.74099	GAG	ARVCF	-	superfamily_ARM-type_fold,smart_Armadillo	ENSG00000099889		0.637	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARVCF	HGNC	protein_coding	OTTHUMT00000075314.5	27	0.00	0	C	NM_001670		19961757	19961757	-1	no_errors	ENST00000263207	ensembl	human	known	69_37n	missense	46	17.86	10	SNP	1.000	G
AS3MT	57412	genome.wustl.edu	37	10	104636765	104636765	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:104636765G>T	ENST00000369880.3	+	7	660	c.583G>T	c.(583-585)Gaa>Taa	p.E195*	C10orf32-ASMT_ENST00000299353.6_3'UTR	NM_020682.3	NP_065733.2	Q9HBK9	AS3MT_HUMAN	arsenite methyltransferase	195					arsonoacetate metabolic process (GO:0018872)|toxin metabolic process (GO:0009404)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	arsenite methyltransferase activity (GO:0030791)|methylarsonite methyltransferase activity (GO:0030792)			large_intestine(1)|lung(6)	7		Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223)		ACTGCCAGAAGAAATCAGGAC	0.393																																						dbGAP											0													248.0	232.0	237.0					10																	104636765		1883	4114	5997	-	-	-	SO:0001587	stop_gained	0			AF226730	CCDS41567.1	10q24.33	2014-05-09	2014-05-09		ENSG00000214435	ENSG00000214435	2.1.1.137		17452	protein-coding gene	gene with protein product		611806	"""arsenic (+3 oxidation state) methyltransferase"""			11790780	Standard	NM_020682		Approved	CYT19	uc001kwk.3	Q9HBK9	OTTHUMG00000018972	ENST00000369880.3:c.583G>T	10.37:g.104636765G>T	ENSP00000358896:p.Glu195*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NP79|Q0VDK3|Q0VDK4|Q5PZ02	Nonsense_Mutation	SNP	pfam_Methyltransf_11,pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransf_12,pfam_PCMT,pfam_Methyltransferase-rel	p.E195*	ENST00000369880.3	37	c.583	CCDS41567.1	10	.	.	.	.	.	.	.	.	.	.	G	34	5.320666	0.95682	.	.	ENSG00000214435	ENST00000369880	.	.	.	5.7	4.79	0.61399	.	0.483859	0.23708	N	0.045344	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-3.5683	13.3525	0.60609	0.0768:0.0:0.9232:0.0	.	.	.	.	X	195	.	ENSP00000358896:E195X	E	+	1	0	AS3MT	104626755	1.000000	0.71417	0.923000	0.36655	0.919000	0.55068	2.405000	0.44548	1.414000	0.47017	0.561000	0.74099	GAA	AS3MT	-	NULL	ENSG00000214435		0.393	AS3MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AS3MT	HGNC	protein_coding	OTTHUMT00000050107.1	182	0.00	0	G	NM_020682		104636765	104636765	+1	no_errors	ENST00000369880	ensembl	human	known	69_37n	nonsense	73	33.64	37	SNP	0.993	T
ASAP1	50807	genome.wustl.edu	37	8	131124376	131124376	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:131124376C>T	ENST00000518721.1	-	24	2592	c.2365G>A	c.(2365-2367)Gag>Aag	p.E789K	ASAP1_ENST00000357668.1_Missense_Mutation_p.E789K	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	789	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						GGGGGAGCCTCCGTGGTTGGT	0.567																																						dbGAP											0													157.0	150.0	152.0					8																	131124376		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.2365G>A	8.37:g.131124376C>T	ENSP00000429900:p.Glu789Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNV3	Missense_Mutation	SNP	pfam_ArfGAP,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_ArfGAP,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,prints_ArfGAP,prints_p67phox,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP	p.E789K	ENST00000518721.1	37	c.2365	CCDS6362.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.55|11.55	1.672331|1.672331	0.29693|0.29693	.|.	.|.	ENSG00000153317|ENSG00000153317	ENST00000343135;ENST00000357668;ENST00000518721|ENST00000524124;ENST00000519483	T;T|.	0.05447|.	3.44;3.44|.	6.03|6.03	6.03|6.03	0.97812|0.97812	.|.	1.152750|.	0.05943|.	N|.	0.637380|.	T|T	0.56731|0.56731	0.2005|0.2005	N|N	0.22421|0.22421	0.69|0.69	0.58432|0.58432	D|D	0.999998|0.999998	B;B;B|.	0.31383|.	0.321;0.321;0.081|.	B;B;B|.	0.23419|.	0.03;0.03;0.046|.	T|T	0.48305|0.48305	-0.9047|-0.9047	10|5	0.26408|.	T|.	0.33|.	.|.	19.545|19.545	0.95291|0.95291	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	789;789;792|.	B2RNV3;Q9ULH1;Q9ULH1-2|.	.;ASAP1_HUMAN;.|.	K|E	792;789;789|609;202	ENSP00000350297:E789K;ENSP00000429900:E789K|.	ENSP00000344591:E792K|.	E|G	-|-	1|2	0|0	ASAP1|ASAP1	131193558|131193558	1.000000|1.000000	0.71417|0.71417	0.967000|0.967000	0.41034|0.41034	0.079000|0.079000	0.17450|0.17450	7.440000|7.440000	0.80464|0.80464	2.861000|2.861000	0.98227|0.98227	0.655000|0.655000	0.94253|0.94253	GAG|GGA	ASAP1	-	NULL	ENSG00000153317		0.567	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASAP1	HGNC	protein_coding	OTTHUMT00000380170.1	144	0.69	1	C	NM_018482		131124376	131124376	-1	no_errors	ENST00000357668	ensembl	human	known	69_37n	missense	201	14.10	33	SNP	1.000	T
ASAP1	50807	genome.wustl.edu	37	8	131199523	131199523	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:131199523C>G	ENST00000518721.1	-	7	716	c.489G>C	c.(487-489)aaG>aaC	p.K163N	ASAP1_ENST00000357668.1_Missense_Mutation_p.K163N	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	163					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						CAAATGGCTTCTTGAGATCCT	0.284																																						dbGAP											0													74.0	75.0	75.0					8																	131199523		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.489G>C	8.37:g.131199523C>G	ENSP00000429900:p.Lys163Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNV3	Missense_Mutation	SNP	pfam_ArfGAP,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_ArfGAP,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,prints_ArfGAP,prints_p67phox,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP	p.K163N	ENST00000518721.1	37	c.489	CCDS6362.1	8	.	.	.	.	.	.	.	.	.	.	C	17.34	3.364616	0.61513	.	.	ENSG00000153317	ENST00000343135;ENST00000357668;ENST00000518721;ENST00000524367	T;T;T	0.10005	2.92;2.92;2.92	5.23	3.17	0.36434	IRSp53/MIM homology domain (IMD) (1);	0.000000	0.85682	D	0.000000	T	0.31071	0.0785	M	0.86178	2.8	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	T	0.03933	-1.0991	10	0.87932	D	0	.	6.4944	0.22133	0.0:0.6876:0.0:0.3124	.	163;163	B2RNV3;Q9ULH1	.;ASAP1_HUMAN	N	163;163;163;133	ENSP00000350297:K163N;ENSP00000429900:K163N;ENSP00000430588:K133N	ENSP00000344591:K163N	K	-	3	2	ASAP1	131268705	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.742000	0.38248	1.202000	0.43218	-0.145000	0.13849	AAG	ASAP1	-	NULL	ENSG00000153317		0.284	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASAP1	HGNC	protein_coding	OTTHUMT00000380170.1	174	0.57	1	C	NM_018482		131199523	131199523	-1	no_errors	ENST00000357668	ensembl	human	known	69_37n	missense	160	16.23	31	SNP	1.000	G
ASB14	142686	genome.wustl.edu	37	3	57321935	57321935	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:57321935G>A	ENST00000389601.3	-	6	586	c.466C>T	c.(466-468)Ctt>Ttt	p.L156F	ASB14_ENST00000487349.1_Missense_Mutation_p.L155F	NM_130387.5	NP_569058.1	A6NK59	ASB14_HUMAN	ankyrin repeat and SOCS box containing 14	156					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					central_nervous_system(1)|large_intestine(1)|lung(1)|skin(2)	5				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		TTACCTGCAAGAAGAGGAGAA	0.423																																						dbGAP											0													104.0	95.0	98.0					3																	57321935		692	1591	2283	-	-	-	SO:0001583	missense	0			AF403032	CCDS46856.1, CCDS46856.2	3p21.1	2013-01-10	2011-01-25			ENSG00000239388		"""Ankyrin repeat domain containing"""	19766	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 14"""			12076535	Standard	NM_130387		Approved	DKFZp313L0121	uc021wzs.1	A6NK59		ENST00000389601.3:c.466C>T	3.37:g.57321935G>A	ENSP00000374252:p.Leu156Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JX97|Q8WXK2|Q92816	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt	p.L156F	ENST00000389601.3	37	c.466		3	.	.	.	.	.	.	.	.	.	.	G	15.56	2.868451	0.51588	.	.	ENSG00000239388	ENST00000487349;ENST00000389601	T;T	0.63580	-0.05;-0.05	5.91	4.99	0.66335	.	.	.	.	.	T	0.45994	0.1370	N	0.17278	0.47	0.43065	D	0.994697	.	.	.	.	.	.	T	0.32188	-0.9916	7	0.10636	T	0.68	.	9.8579	0.41096	0.0:0.2941:0.5835:0.1224	.	.	.	.	F	155;156	ENSP00000419199:L155F;ENSP00000374252:L156F	ENSP00000374252:L156F	L	-	1	0	ASB14	57296975	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	3.481000	0.53179	2.809000	0.96659	0.555000	0.69702	CTT	ASB14	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000239388		0.423	ASB14-201	KNOWN	basic	protein_coding	ASB14	HGNC	protein_coding		83	0.00	0	G			57321935	57321935	-1	no_errors	ENST00000389601	ensembl	human	known	69_37n	missense	71	19.32	17	SNP	1.000	A
ASB2	51676	genome.wustl.edu	37	14	94423200	94423200	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:94423200C>G	ENST00000315988.4	-	1	567	c.79G>C	c.(79-81)Gag>Cag	p.E27Q	ASB2_ENST00000556337.1_Intron|ASB2_ENST00000555019.1_Missense_Mutation_p.E75Q	NM_016150.4	NP_057234.2	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	27					intracellular signal transduction (GO:0035556)|myoblast differentiation (GO:0045445)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)	Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		GGCGAACTCTCAGGAGGTGCA	0.572																																						dbGAP											0													87.0	89.0	89.0					14																	94423200		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF159164	CCDS9915.1, CCDS55940.1	14q31-q32	2013-01-10	2011-01-25					"""Ankyrin repeat domain containing"""	16012	protein-coding gene	gene with protein product		605759	"""ankyrin repeat and SOCS box-containing 2"""				Standard	NM_016150		Approved	ASB-2	uc001ycd.3	Q96Q27		ENST00000315988.4:c.79G>C	14.37:g.94423200C>G	ENSP00000320675:p.Glu27Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDP9|B4E166|Q9NSU5|Q9Y567	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt	p.E27Q	ENST00000315988.4	37	c.79	CCDS9915.1	14	.	.	.	.	.	.	.	.	.	.	C	1.943	-0.443020	0.04604	.	.	ENSG00000100628	ENST00000555019;ENST00000434324;ENST00000315988	T;T	0.67698	-0.27;-0.28	5.42	3.58	0.41010	.	0.741314	0.13053	N	0.417509	T	0.45836	0.1362	N	0.14661	0.345	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.06405	0.001;0.002	T	0.28744	-1.0034	10	0.31617	T	0.26	-3.2497	6.5455	0.22404	0.0:0.6795:0.1501:0.1703	.	75;27	B4E166;Q96Q27	.;ASB2_HUMAN	Q	75;43;27	ENSP00000451575:E75Q;ENSP00000320675:E27Q	ENSP00000320675:E27Q	E	-	1	0	ASB2	93492953	0.388000	0.25197	0.002000	0.10522	0.004000	0.04260	0.712000	0.25779	0.648000	0.30732	0.655000	0.94253	GAG	ASB2	-	NULL	ENSG00000100628		0.572	ASB2-001	KNOWN	basic|CCDS	protein_coding	ASB2	HGNC	protein_coding	OTTHUMT00000412845.1	73	0.00	0	C			94423200	94423200	-1	no_errors	ENST00000315988	ensembl	human	known	69_37n	missense	32	56.16	41	SNP	0.001	G
ASH1L	55870	genome.wustl.edu	37	1	155449081	155449081	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:155449081C>T	ENST00000368346.3	-	3	4219	c.3580G>A	c.(3580-3582)Gat>Aat	p.D1194N	ASH1L_ENST00000392403.3_Missense_Mutation_p.D1194N			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1194					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			ATGGTCTCATCACTATGAGAC	0.423																																						dbGAP											0													102.0	106.0	105.0					1																	155449081		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.3580G>A	1.37:g.155449081C>T	ENSP00000357330:p.Asp1194Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain	p.D1194N	ENST00000368346.3	37	c.3580		1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.952570	0.73787	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.90788	-2.73;-2.73	5.2	5.2	0.72013	.	0.057616	0.64402	D	0.000002	D	0.88366	0.6417	N	0.14661	0.345	0.80722	D	1	D;D	0.64830	0.99;0.994	P;P	0.60345	0.749;0.873	D	0.90807	0.4698	10	0.72032	D	0.01	.	18.5192	0.90945	0.0:1.0:0.0:0.0	.	1194;1194	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	N	1194	ENSP00000357330:D1194N;ENSP00000376204:D1194N	ENSP00000357330:D1194N	D	-	1	0	ASH1L	153715705	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.705000	0.92388	0.591000	0.81541	GAT	ASH1L	-	NULL	ENSG00000116539		0.423	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	ASH1L	HGNC	protein_coding	OTTHUMT00000039400.1	74	0.00	0	C	NM_018489		155449081	155449081	-1	no_errors	ENST00000368346	ensembl	human	known	69_37n	missense	121	15.38	22	SNP	1.000	T
ASH1L	55870	genome.wustl.edu	37	1	155531932	155531932	+	Intron	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:155531932C>A	ENST00000368346.3	-	1	541				ASH1L_ENST00000548830.1_Intron|ASH1L-AS1_ENST00000452809.1_RNA|ASH1L_ENST00000392403.3_Intron			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)						cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CGGCCCAAATCGTTCTACTCA	0.627																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.98+11G>T	1.37:g.155531932C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q59GP1|Q5T714|Q5T715|Q9P2C7	RNA	SNP	-	NULL	ENST00000368346.3	37	NULL		1																																																																																			ASH1L-AS1	-	-	ENSG00000235919		0.627	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	ASH1L-AS1	HGNC	protein_coding	OTTHUMT00000039400.1	24	0.00	0	C	NM_018489		155531932	155531932	+1	no_errors	ENST00000452809	ensembl	human	known	69_37n	rna	31	26.19	11	SNP	0.439	A
ASIC1	41	genome.wustl.edu	37	12	50452736	50452736	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:50452736G>C	ENST00000447966.2	+	2	416	c.187G>C	c.(187-189)Gag>Cag	p.E63Q	ASIC1_ENST00000228468.4_Missense_Mutation_p.E63Q	NM_001095.3	NP_001086.2	P78348	ASIC1_HUMAN	acid-sensing (proton-gated) ion channel 1	63					associative learning (GO:0008306)|calcium ion transmembrane transport (GO:0070588)|cellular response to pH (GO:0071467)|ion transmembrane transport (GO:0034220)|memory (GO:0007613)|negative regulation of neurotransmitter secretion (GO:0046929)|protein homotrimerization (GO:0070207)|regulation of membrane potential (GO:0042391)|response to acidic pH (GO:0010447)|response to pH (GO:0009268)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acid-sensing ion channel activity (GO:0044736)|ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)									Amiloride(DB00594)|Diclofenac(DB00586)	TGTGTGCACGGAGCGTGTGCA	0.607																																						dbGAP											0													181.0	132.0	149.0					12																	50452736		2203	4300	6503	-	-	-	SO:0001583	missense	0			U78181	CCDS8796.1, CCDS44876.1, CCDS58228.1	12q12	2012-02-23	2012-02-22	2012-02-22		ENSG00000110881		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	100	protein-coding gene	gene with protein product		602866	"""amiloride-sensitive cation channel 2, neuronal"""	ACCN2		9037075	Standard	NM_001095		Approved	BNaC2, hBNaC2	uc001rvv.4	P78348	OTTHUMG00000169812	ENST00000447966.2:c.187G>C	12.37:g.50452736G>C	ENSP00000400228:p.Glu63Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A3KN86|E5KBL7|P78349|Q96CV2	Missense_Mutation	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC	p.E63Q	ENST00000447966.2	37	c.187	CCDS44876.1	12	.	.	.	.	.	.	.	.	.	.	G	15.53	2.859943	0.51482	.	.	ENSG00000110881	ENST00000228468;ENST00000447966	T;T	0.64085	-0.08;-0.08	4.83	4.83	0.62350	.	0.055934	0.64402	D	0.000001	T	0.54822	0.1882	L	0.39147	1.195	0.80722	D	1	B;B	0.16166	0.002;0.016	B;B	0.27715	0.082;0.022	T	0.53535	-0.8425	10	0.44086	T	0.13	-22.8249	12.7629	0.57374	0.0828:0.0:0.9172:0.0	.	63;63	P78348;P78348-1	ACCN2_HUMAN;.	Q	63	ENSP00000228468:E63Q;ENSP00000400228:E63Q	ENSP00000228468:E63Q	E	+	1	0	ACCN2	48739003	1.000000	0.71417	0.950000	0.38849	0.990000	0.78478	6.736000	0.74811	2.404000	0.81709	0.462000	0.41574	GAG	ASIC1	-	pfam_Na+channel_ASC	ENSG00000110881		0.607	ASIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ASIC1	HGNC	protein_coding	OTTHUMT00000406004.2	71	0.00	0	G	NM_020039		50452736	50452736	+1	no_errors	ENST00000228468	ensembl	human	known	69_37n	missense	98	13.27	15	SNP	0.998	C
ASIC3	9311	genome.wustl.edu	37	7	150746182	150746182	+	Missense_Mutation	SNP	C	C	G	rs62001891		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:150746182C>G	ENST00000349064.5	+	1	408	c.210C>G	c.(208-210)ttC>ttG	p.F70L	ASIC3_ENST00000357922.4_Missense_Mutation_p.F70L|ASIC3_ENST00000297512.8_Missense_Mutation_p.F70L	NM_004769.3|NM_020321.3	NP_004760.1|NP_064717.1	Q9UHC3	ASIC3_HUMAN	acid-sensing (proton-gated) ion channel 3	70					cation transmembrane transport (GO:0098655)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ion transmembrane transport (GO:0034220)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|response to heat (GO:0009408)|sensory perception (GO:0007600)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|enterobactin transporter activity (GO:0042931)|ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)										ACAGGGAGTTCCACCACCAGA	0.657																																						dbGAP											0													103.0	82.0	89.0					7																	150746182		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB010575	CCDS5914.1, CCDS5915.1, CCDS5916.1	7q35	2012-02-23	2012-02-22	2012-02-22	ENSG00000213199	ENSG00000213199		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	101	protein-coding gene	gene with protein product	"""testis sodium channel 1"""	611741	"""amiloride-sensitive cation channel 3, testis"", ""amiloride-sensitive cation channel 3"""	ACCN3		9571199, 9744806	Standard	NM_004769		Approved	TNaC1, DRASIC	uc003wio.3	Q9UHC3	OTTHUMG00000158685	ENST00000349064.5:c.210C>G	7.37:g.150746182C>G	ENSP00000344838:p.Phe70Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9V0|O60263|O75906|Q59FN9|Q9UER8|Q9UHC4	Missense_Mutation	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.F70L	ENST00000349064.5	37	c.210	CCDS5916.1	7	.	.	.	.	.	.	.	.	.	.	C	16.63	3.176221	0.57692	.	.	ENSG00000213199	ENST00000357922;ENST00000349064;ENST00000297512	T;T;T	0.62639	0.01;0.01;0.01	5.11	3.31	0.37934	.	0.000000	0.35708	U	0.003032	T	0.60521	0.2275	M	0.73217	2.22	0.41310	D	0.987109	B;B;B	0.24823	0.052;0.032;0.112	B;B;B	0.31442	0.062;0.062;0.13	T	0.56463	-0.7975	10	0.35671	T	0.21	-22.0794	9.8433	0.41013	0.0:0.832:0.0:0.168	.	70;70;70	Q9UHC3-2;Q9UHC3-3;Q9UHC3	.;.;ACCN3_HUMAN	L	70	ENSP00000350600:F70L;ENSP00000344838:F70L;ENSP00000297512:F70L	ENSP00000297512:F70L	F	+	3	2	ACCN3	150377115	1.000000	0.71417	1.000000	0.80357	0.667000	0.39255	1.194000	0.32174	0.677000	0.31305	0.561000	0.74099	TTC	ASIC3	-	pfam_Na+channel_ASC	ENSG00000213199		0.657	ASIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ASIC3	HGNC	protein_coding	OTTHUMT00000351725.1	31	0.00	0	C	NM_004769		150746182	150746182	+1	no_errors	ENST00000297512	ensembl	human	known	69_37n	missense	25	26.47	9	SNP	1.000	G
ASNS	440	genome.wustl.edu	37	7	97482374	97482374	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:97482374G>T	ENST00000394309.3	-	12	1945	c.1474C>A	c.(1474-1476)Cag>Aag	p.Q492K	ASNS_ENST00000437628.1_Missense_Mutation_p.Q409K|ASNS_ENST00000422745.1_Missense_Mutation_p.Q471K|ASNS_ENST00000444334.1_Missense_Mutation_p.Q471K|ASNS_ENST00000175506.4_Missense_Mutation_p.Q492K|ASNS_ENST00000455086.1_Missense_Mutation_p.Q409K|ASNS_ENST00000394308.3_Missense_Mutation_p.Q492K	NM_133436.3	NP_597680.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	492	Asparagine synthetase.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|asparagine biosynthetic process (GO:0006529)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular protein metabolic process (GO:0044267)|cellular response to glucose starvation (GO:0042149)|cellular response to hormone stimulus (GO:0032870)|endoplasmic reticulum unfolded protein response (GO:0030968)|glutamine metabolic process (GO:0006541)|L-asparagine biosynthetic process (GO:0070981)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|positive regulation of mitotic cell cycle (GO:0045931)|response to amino acid (GO:0043200)|response to follicle-stimulating hormone (GO:0032354)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)|ATP binding (GO:0005524)|cofactor binding (GO:0048037)			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CATTATACCTGATGTTCAACG	0.343																																					Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738)	dbGAP											0													35.0	34.0	34.0					7																	97482374		2203	4299	6502	-	-	-	SO:0001583	missense	0			M27396	CCDS5652.1, CCDS55131.1, CCDS55132.1	7q21.3	2012-10-02	2010-05-07		ENSG00000070669	ENSG00000070669	6.3.5.4		753	protein-coding gene	gene with protein product		108370	"""asparagine synthetase"""				Standard	NM_001673		Approved		uc003uov.4	P08243	OTTHUMG00000022892	ENST00000394309.3:c.1474C>A	7.37:g.97482374G>T	ENSP00000377846:p.Gln492Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1I8|B4DXZ1|B7ZAA9|D6W5R3|E9PCI3|E9PCX6|P08184|Q15666|Q549T9|Q96HD0	Missense_Mutation	SNP	pfam_Asn_synthase,pfam_GATase_dom,tigrfam_Asn_synth_AEB	p.Q492K	ENST00000394309.3	37	c.1474	CCDS5652.1	7	.	.	.	.	.	.	.	.	.	.	G	0.218	-1.031109	0.02029	.	.	ENSG00000070669	ENST00000175506;ENST00000394309;ENST00000437628;ENST00000394308;ENST00000422745;ENST00000455086;ENST00000444334	T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99	3.63	2.72	0.32119	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.284333	0.36482	N	0.002568	T	0.25827	0.0629	N	0.16307	0.4	0.44395	D	0.997301	B	0.13145	0.007	B	0.12156	0.007	T	0.05869	-1.0859	10	0.36615	T	0.2	-14.9908	11.1291	0.48336	0.0:0.1892:0.8108:0.0	.	492	P08243	ASNS_HUMAN	K	492;492;409;492;471;409;471	ENSP00000175506:Q492K;ENSP00000377846:Q492K;ENSP00000414379:Q409K;ENSP00000377845:Q492K;ENSP00000414901:Q471K;ENSP00000408472:Q409K;ENSP00000406994:Q471K	ENSP00000175506:Q492K	Q	-	1	0	ASNS	97320310	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	6.114000	0.71560	1.061000	0.40601	0.561000	0.74099	CAG	ASNS	-	NULL	ENSG00000070669		0.343	ASNS-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ASNS	HGNC	protein_coding	OTTHUMT00000333645.1	39	0.00	0	G	NM_001673, NM_183356		97482374	97482374	-1	no_errors	ENST00000175506	ensembl	human	known	69_37n	missense	47	16.07	9	SNP	0.999	T
ASIC3	9311	genome.wustl.edu	37	7	150747313	150747313	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:150747313G>A	ENST00000349064.5	+	2	853	c.655G>A	c.(655-657)Gag>Aag	p.E219K	ASIC3_ENST00000357922.4_Missense_Mutation_p.E219K|ASIC3_ENST00000297512.8_Missense_Mutation_p.E219K	NM_004769.3|NM_020321.3	NP_004760.1|NP_064717.1	Q9UHC3	ASIC3_HUMAN	acid-sensing (proton-gated) ion channel 3	219					cation transmembrane transport (GO:0098655)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ion transmembrane transport (GO:0034220)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|response to heat (GO:0009408)|sensory perception (GO:0007600)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|enterobactin transporter activity (GO:0042931)|ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)										CGTGCAGCAGGAGGAATATCT	0.572																																						dbGAP											0													112.0	92.0	99.0					7																	150747313		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB010575	CCDS5914.1, CCDS5915.1, CCDS5916.1	7q35	2012-02-23	2012-02-22	2012-02-22	ENSG00000213199	ENSG00000213199		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	101	protein-coding gene	gene with protein product	"""testis sodium channel 1"""	611741	"""amiloride-sensitive cation channel 3, testis"", ""amiloride-sensitive cation channel 3"""	ACCN3		9571199, 9744806	Standard	NM_004769		Approved	TNaC1, DRASIC	uc003wio.3	Q9UHC3	OTTHUMG00000158685	ENST00000349064.5:c.655G>A	7.37:g.150747313G>A	ENSP00000344838:p.Glu219Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9V0|O60263|O75906|Q59FN9|Q9UER8|Q9UHC4	Missense_Mutation	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.E219K	ENST00000349064.5	37	c.655	CCDS5916.1	7	.	.	.	.	.	.	.	.	.	.	G	33	5.258663	0.95368	.	.	ENSG00000213199	ENST00000357922;ENST00000349064;ENST00000297512	T;T;T	0.63744	-0.06;-0.06;-0.06	4.49	4.49	0.54785	.	0.644171	0.12559	U	0.458301	T	0.66458	0.2791	M	0.64080	1.96	0.41289	D	0.986962	B;B;P	0.40578	0.299;0.046;0.722	P;B;B	0.44673	0.457;0.026;0.171	T	0.65697	-0.6105	10	0.38643	T	0.18	-3.6523	15.0523	0.71885	0.0:0.0:1.0:0.0	.	219;219;219	Q9UHC3-2;Q9UHC3-3;Q9UHC3	.;.;ACCN3_HUMAN	K	219	ENSP00000350600:E219K;ENSP00000344838:E219K;ENSP00000297512:E219K	ENSP00000297512:E219K	E	+	1	0	ACCN3	150378246	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	7.970000	0.88000	2.229000	0.72834	0.561000	0.74099	GAG	ASIC3	-	pfam_Na+channel_ASC,tigrfam_EnaC	ENSG00000213199		0.572	ASIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ASIC3	HGNC	protein_coding	OTTHUMT00000351725.1	49	0.00	0	G	NM_004769		150747313	150747313	+1	no_errors	ENST00000297512	ensembl	human	known	69_37n	missense	55	16.67	11	SNP	1.000	A
ASPA	443	genome.wustl.edu	37	17	3379679	3379679	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:3379679G>T	ENST00000263080.2	+	1	384	c.226G>T	c.(226-228)Gaa>Taa	p.E76*	ASPA_ENST00000456349.2_Nonsense_Mutation_p.E76*|SPATA22_ENST00000541913.1_Intron	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN	aspartoacylase	76					aspartate catabolic process (GO:0006533)|central nervous system myelination (GO:0022010)|positive regulation of oligodendrocyte differentiation (GO:0048714)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminoacylase activity (GO:0004046)|aspartoacylase activity (GO:0019807)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17					L-Aspartic Acid(DB00128)	TTTTGACCTTGAAAATCTTGG	0.378																																						dbGAP											0													153.0	134.0	140.0					17																	3379679		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			S67156	CCDS11028.1	17p13.3	2010-06-24	2010-06-24		ENSG00000108381	ENSG00000108381	3.5.1.15		756	protein-coding gene	gene with protein product	"""aminoacylase 2"", ""Canavan disease"""	608034	"""aspartoacylase (aminoacylase 2, Canavan disease)"""			8252036	Standard	NM_001128085		Approved	ASP, ACY2	uc002fvq.3	P45381	OTTHUMG00000090655	ENST00000263080.2:c.226G>T	17.37:g.3379679G>T	ENSP00000263080:p.Glu76*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_Aste_AspA,pirsf_Aspartoacylase	p.E76*	ENST00000263080.2	37	c.226	CCDS11028.1	17	.	.	.	.	.	.	.	.	.	.	g	36	5.830199	0.96996	.	.	ENSG00000108381	ENST00000456349;ENST00000263080	.	.	.	5.73	5.73	0.89815	.	0.146725	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-17.2662	19.2764	0.94032	0.0:0.0:1.0:0.0	.	.	.	.	X	76	.	ENSP00000263080:E76X	E	+	1	0	ASPA	3326429	1.000000	0.71417	0.999000	0.59377	0.920000	0.55202	7.691000	0.84191	2.882000	0.98803	0.655000	0.94253	GAA	ASPA	-	pfam_Aste_AspA,pirsf_Aspartoacylase	ENSG00000108381		0.378	ASPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASPA	HGNC	protein_coding	OTTHUMT00000207315.1	129	0.00	0	G	NM_000049		3379679	3379679	+1	no_errors	ENST00000263080	ensembl	human	known	69_37n	nonsense	98	26.32	35	SNP	1.000	T
ASPM	259266	genome.wustl.edu	37	1	197063237	197063237	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:197063237G>C	ENST00000367409.4	-	20	9317	c.9061C>G	c.(9061-9063)Cat>Gat	p.H3021D	ASPM_ENST00000294732.7_Missense_Mutation_p.H1436D|ASPM_ENST00000367408.1_Missense_Mutation_p.H686D	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3021					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						AAGTGTTCATGAGCTATCTTT	0.284																																						dbGAP											0													42.0	43.0	43.0					1																	197063237		2199	4284	6483	-	-	-	SO:0001583	missense	0			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.9061C>G	1.37:g.197063237G>C	ENSP00000356379:p.His3021Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_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.H3021D	ENST00000367409.4	37	c.9061	CCDS1389.1	1	.	.	.	.	.	.	.	.	.	.	G	12.07	1.828430	0.32329	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408;ENST00000367406	T;T;D	0.95137	-0.57;-0.57;-3.62	5.63	2.72	0.32119	.	0.924109	0.09304	N	0.820472	D	0.89911	0.6852	L	0.39898	1.24	0.09310	N	1	P;P;P	0.47677	0.497;0.475;0.899	B;B;B	0.40009	0.062;0.031;0.316	T	0.78884	-0.2028	10	0.19147	T	0.46	.	9.2789	0.37716	0.2287:0.0:0.7713:0.0	.	1007;1436;3021	E7EQ84;Q4G1H1;Q8IZT6	.;.;ASPM_HUMAN	D	3021;1436;686;1007	ENSP00000356379:H3021D;ENSP00000294732:H1436D;ENSP00000356378:H686D	ENSP00000294732:H1436D	H	-	1	0	ASPM	195329860	0.129000	0.22400	0.005000	0.12908	0.931000	0.56810	1.599000	0.36751	0.712000	0.32039	0.650000	0.86243	CAT	ASPM	-	superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS	ENSG00000066279		0.284	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPM	HGNC	protein_coding	OTTHUMT00000088256.1	103	0.00	0	G	NM_018136		197063237	197063237	-1	no_errors	ENST00000367409	ensembl	human	known	69_37n	missense	94	15.32	17	SNP	0.001	C
ASPM	259266	genome.wustl.edu	37	1	197069590	197069590	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:197069590C>G	ENST00000367409.4	-	18	9047	c.8791G>C	c.(8791-8793)Gaa>Caa	p.E2931Q	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2931	IQ 33. {ECO:0000255|PROSITE- ProRule:PRU00116}.				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						TTTTTAATTTCCTGAAACTTC	0.274																																						dbGAP											0													34.0	36.0	35.0					1																	197069590		2193	4287	6480	-	-	-	SO:0001583	missense	0			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.8791G>C	1.37:g.197069590C>G	ENSP00000356379:p.Glu2931Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_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.E2931Q	ENST00000367409.4	37	c.8791	CCDS1389.1	1	.	.	.	.	.	.	.	.	.	.	C	10.11	1.261627	0.23051	.	.	ENSG00000066279	ENST00000367409;ENST00000367406	T	0.71222	-0.55	5.09	1.31	0.21738	.	0.416851	0.25037	N	0.033627	T	0.50394	0.1613	N	0.22421	0.69	0.80722	D	1	B;B	0.20671	0.047;0.0	B;B	0.19148	0.024;0.0	T	0.20538	-1.0272	10	0.19590	T	0.45	.	8.5807	0.33626	0.0:0.2838:0.0:0.7162	.	917;2931	E7EQ84;Q8IZT6	.;ASPM_HUMAN	Q	2931;917	ENSP00000356379:E2931Q	ENSP00000356376:E917Q	E	-	1	0	ASPM	195336213	0.455000	0.25736	0.965000	0.40720	0.857000	0.48899	0.649000	0.24843	0.050000	0.15949	-1.012000	0.02466	GAA	ASPM	-	superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	ENSG00000066279		0.274	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPM	HGNC	protein_coding	OTTHUMT00000088256.1	54	0.00	0	C	NM_018136		197069590	197069590	-1	no_errors	ENST00000367409	ensembl	human	known	69_37n	missense	57	18.57	13	SNP	0.998	G
ASPM	259266	genome.wustl.edu	37	1	197094316	197094316	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:197094316G>T	ENST00000367409.4	-	11	3198	c.2942C>A	c.(2941-2943)aCc>aAc	p.T981N	ASPM_ENST00000294732.7_Missense_Mutation_p.T981N|ASPM_ENST00000367408.1_Missense_Mutation_p.T231N	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	981	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						AAGTTCCATGGTTCGCCTGGC	0.368																																						dbGAP											0													86.0	85.0	85.0					1																	197094316		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.2942C>A	1.37:g.197094316G>T	ENSP00000356379:p.Thr981Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_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.T981N	ENST00000367409.4	37	c.2942	CCDS1389.1	1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.160057	0.57368	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408	T;T;T	0.59502	0.26;0.26;0.26	5.74	3.83	0.44106	Calponin homology domain (4);	0.334600	0.29307	N	0.012528	T	0.60741	0.2292	M	0.61703	1.905	0.33796	D	0.626026	P;P	0.51351	0.771;0.944	B;P	0.48114	0.347;0.567	T	0.73681	-0.3906	10	0.66056	D	0.02	.	12.0738	0.53632	0.1429:0.0:0.8571:0.0	.	981;981	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	N	981;981;231	ENSP00000356379:T981N;ENSP00000294732:T981N;ENSP00000356378:T231N	ENSP00000294732:T981N	T	-	2	0	ASPM	195360939	1.000000	0.71417	0.994000	0.49952	0.909000	0.53808	3.255000	0.51484	0.848000	0.35191	0.563000	0.77884	ACC	ASPM	-	superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000066279		0.368	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPM	HGNC	protein_coding	OTTHUMT00000088256.1	115	0.00	0	G	NM_018136		197094316	197094316	-1	no_errors	ENST00000367409	ensembl	human	known	69_37n	missense	99	16.81	20	SNP	0.997	T
ASPM	259266	genome.wustl.edu	37	1	197098320	197098320	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:197098320G>C	ENST00000367409.4	-	9	3013	c.2757C>G	c.(2755-2757)ttC>ttG	p.F919L	ASPM_ENST00000294732.7_Missense_Mutation_p.F919L|ASPM_ENST00000367408.1_Missense_Mutation_p.F169L	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	919					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						AGCATACCTTGAATTCGGCAT	0.299																																						dbGAP											0													89.0	90.0	90.0					1																	197098320		2203	4297	6500	-	-	-	SO:0001583	missense	0			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.2757C>G	1.37:g.197098320G>C	ENSP00000356379:p.Phe919Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_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.F919L	ENST00000367409.4	37	c.2757	CCDS1389.1	1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.320294	0.81469	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408	T;T;T	0.58506	0.33;0.33;0.33	4.99	4.99	0.66335	Calponin homology domain (1);	0.080114	0.53938	D	0.000051	T	0.63570	0.2522	L	0.47016	1.485	0.54753	D	0.999988	D;D	0.62365	0.991;0.981	P;P	0.58210	0.835;0.777	T	0.63355	-0.6656	10	0.46703	T	0.11	.	12.0699	0.53609	0.0794:0.0:0.9206:0.0	.	919;919	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	L	919;919;169	ENSP00000356379:F919L;ENSP00000294732:F919L;ENSP00000356378:F169L	ENSP00000294732:F919L	F	-	3	2	ASPM	195364943	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.617000	0.61204	2.481000	0.83766	0.561000	0.74099	TTC	ASPM	-	superfamily_CH-domain	ENSG00000066279		0.299	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPM	HGNC	protein_coding	OTTHUMT00000088256.1	78	0.00	0	G	NM_018136		197098320	197098320	-1	no_errors	ENST00000367409	ensembl	human	known	69_37n	missense	90	18.18	20	SNP	1.000	C
ASPN	54829	genome.wustl.edu	37	9	95227238	95227238	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:95227238G>A	ENST00000375544.3	-	5	918	c.675C>T	c.(673-675)atC>atT	p.I225I	ASPN_ENST00000375543.1_Silent_p.I225I|ASPN_ENST00000395538.3_Silent_p.I225I|CENPP_ENST00000375587.3_Intron	NM_017680.4	NP_060150	Q9BXN1	ASPN_HUMAN	asporin	225					bone mineralization (GO:0030282)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						CTGCAATTCTGATATGGAACA	0.388																																						dbGAP											0													162.0	152.0	156.0					9																	95227238		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF316824		9q22.31	2008-05-14	2007-02-15		ENSG00000106819	ENSG00000106819		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	14872	protein-coding gene	gene with protein product	"""asporin proteoglycan"""	608135	"""asporin (LRR class 1)"""				Standard	NM_017680		Approved	FLJ20129, SLRR1C, PLAP1	uc004ase.2	Q9BXN1	OTTHUMG00000020227	ENST00000375544.3:c.675C>T	9.37:g.95227238G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TBF3|Q96K79|Q96LD0|Q9NXP3	Silent	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan	p.I225	ENST00000375544.3	37	c.675		9																																																																																			ASPN	-	pirsf_SLRP_I_decor/aspor/byglycan	ENSG00000106819		0.388	ASPN-001	KNOWN	basic|appris_principal	protein_coding	ASPN	HGNC	protein_coding	OTTHUMT00000053094.1	101	0.00	0	G	NM_017680		95227238	95227238	-1	no_errors	ENST00000375544	ensembl	human	known	69_37n	silent	94	19.66	23	SNP	0.990	A
ASPSCR1	79058	genome.wustl.edu	37	17	79952733	79952733	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:79952733C>T	ENST00000306739.4	+	5	508	c.411C>T	c.(409-411)gtC>gtT	p.V137V	ASPSCR1_ENST00000581647.1_Silent_p.V137V|ASPSCR1_ENST00000306729.7_Silent_p.V137V|ASPSCR1_ENST00000580534.1_Silent_p.V60V	NM_024083.3	NP_076988.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	137					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)			CCACCCCAGTCTGCGTGTACA	0.637			T	TFE3	alveolar soft part sarcoma																																	dbGAP		Dom	yes		17	17q25	79058	"""alveolar soft part sarcoma chromosome region, candidate 1"""		M	0													77.0	82.0	80.0					17																	79952733		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			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.411C>T	17.37:g.79952733C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3K9|Q7Z6N7|Q8WV59|Q96LS5|Q96M40	Missense_Mutation	SNP	pfam_TUG	p.S118F	ENST00000306739.4	37	c.353	CCDS11796.1	17																																																																																			ASPSCR1	-	NULL	ENSG00000169696		0.637	ASPSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASPSCR1	HGNC	protein_coding	OTTHUMT00000441972.1	35	0.00	0	C	NM_024083		79952733	79952733	+1	no_start_codon:pseudogene:no_stop_codon	ENST00000579684	ensembl	human	putative	69_37n	missense	27	18.18	6	SNP	0.877	T
ASTN1	460	genome.wustl.edu	37	1	176926963	176926963	+	Splice_Site	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:176926963C>G	ENST00000367654.3	-	11	1973	c.1762G>C	c.(1762-1764)Gag>Cag	p.E588Q	ASTN1_ENST00000424564.2_Splice_Site_p.E580Q|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Splice_Site_p.E580Q|ASTN1_ENST00000367657.3_Splice_Site_p.E580Q	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	588					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						ATCAGCTCCTCTCTGTGGGGA	0.512																																						dbGAP											0													42.0	39.0	40.0					1																	176926963		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.1761-1G>C	1.37:g.176926963C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	superfamily_Fibronectin_type3,smart_EGF-like,smart_MACPF,pfscan_Fibronectin_type3	p.E588Q	ENST00000367654.3	37	c.1762		1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.052339	0.55218	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.17691	2.26;2.68;2.68;2.27	5.3	4.39	0.52855	.	0.000000	0.85682	D	0.000000	T	0.15478	0.0373	L	0.27053	0.805	0.80722	D	1	P;P;B	0.49559	0.925;0.59;0.288	B;B;B	0.44044	0.439;0.168;0.168	T	0.01920	-1.1247	10	0.72032	D	0.01	-30.3271	13.5594	0.61779	0.0:0.9245:0.0:0.0755	.	588;580;580	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	Q	580;580;588;580;580	ENSP00000356629:E580Q;ENSP00000354536:E580Q;ENSP00000356626:E588Q;ENSP00000395041:E580Q	ENSP00000354536:E580Q	E	-	1	0	ASTN1	175193586	1.000000	0.71417	1.000000	0.80357	0.204000	0.24138	7.348000	0.79366	1.242000	0.43836	-0.251000	0.11542	GAG	ASTN1	-	NULL	ENSG00000152092		0.512	ASTN1-201	KNOWN	basic	protein_coding	ASTN1	HGNC	protein_coding		32	0.00	0	C	NM_004319	Missense_Mutation	176926963	176926963	-1	no_errors	ENST00000367654	ensembl	human	known	69_37n	missense	54	22.86	16	SNP	1.000	G
ASTN2	23245	genome.wustl.edu	37	9	119976778	119976778	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:119976778C>T	ENST00000313400.4	-	3	974	c.874G>A	c.(874-876)Gac>Aac	p.D292N	ASTN2_ENST00000373996.3_Missense_Mutation_p.D292N|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.D292N			O75129	ASTN2_HUMAN	astrotactin 2	292					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CAGTCATAGTCATCCAGGATG	0.622																																						dbGAP											0													78.0	75.0	76.0					9																	119976778		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.874G>A	9.37:g.119976778C>T	ENSP00000314038:p.Asp292Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF	p.D292N	ENST00000313400.4	37	c.874		9	.	.	.	.	.	.	.	.	.	.	C	18.96	3.734373	0.69189	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000373986;ENST00000361209	T;T;T;T	0.14266	2.62;2.62;2.56;2.52	5.16	5.16	0.70880	.	0.073163	0.52532	D	0.000066	T	0.19446	0.0467	N	0.08118	0	0.58432	D	0.999995	D;D;D	0.76494	0.988;0.997;0.999	P;D;D	0.77004	0.794;0.989;0.956	T	0.35126	-0.9801	9	.	.	.	-25.8287	18.2572	0.90023	0.0:1.0:0.0:0.0	.	292;292;292	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	N	292;292;19;292	ENSP00000314038:D292N;ENSP00000363108:D292N;ENSP00000363098:D19N;ENSP00000354504:D292N	.	D	-	1	0	ASTN2	119016599	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.452000	0.80683	2.388000	0.81334	0.655000	0.94253	GAC	ASTN2	-	NULL	ENSG00000148219		0.622	ASTN2-201	KNOWN	basic	protein_coding	ASTN2	HGNC	protein_coding		54	0.00	0	C	NM_014010		119976778	119976778	-1	no_errors	ENST00000313400	ensembl	human	known	69_37n	missense	61	20.78	16	SNP	1.000	T
ASXL2	55252	genome.wustl.edu	37	2	25966074	25966074	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:25966074C>T	ENST00000435504.4	-	13	3425	c.3132G>A	c.(3130-3132)ctG>ctA	p.L1044L	ASXL2_ENST00000404843.1_Intron|ASXL2_ENST00000336112.4_Silent_p.L1016L|ASXL2_ENST00000272341.4_Intron			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	1044					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)					TGGAGTCCCTCAGCTCCTTAG	0.527																																						dbGAP											0													108.0	106.0	106.0					2																	25966074		1947	4146	6093	-	-	-	SO:0001819	synonymous_variant	0					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.3132G>A	2.37:g.25966074C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Silent	SNP	superfamily_Znf_FYVE_PHD	p.L1044	ENST00000435504.4	37	c.3132		2																																																																																			ASXL2	-	NULL	ENSG00000143970		0.527	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	ASXL2	HGNC	protein_coding	OTTHUMT00000325593.3	130	0.00	0	C	NM_018263		25966074	25966074	-1	no_errors	ENST00000435504	ensembl	human	known	69_37n	silent	100	29.08	41	SNP	0.997	T
ASXL2	55252	genome.wustl.edu	37	2	25978935	25978935	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:25978935C>T	ENST00000435504.4	-	10	1281	c.988G>A	c.(988-990)Gaa>Aaa	p.E330K	ASXL2_ENST00000404843.1_Missense_Mutation_p.E70K|ASXL2_ENST00000336112.4_Missense_Mutation_p.E302K|ASXL2_ENST00000272341.4_Missense_Mutation_p.E70K			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	330					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)	p.E70Q(1)|p.E330Q(1)		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)					GTGAAGAATTCATTGTTAAGG	0.448																																						dbGAP											2	Substitution - Missense(2)	urinary_tract(2)											130.0	127.0	128.0					2																	25978935		1886	4112	5998	-	-	-	SO:0001583	missense	0					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.988G>A	2.37:g.25978935C>T	ENSP00000391447:p.Glu330Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD	p.E330K	ENST00000435504.4	37	c.988		2	.	.	.	.	.	.	.	.	.	.	C	32	5.159394	0.94686	.	.	ENSG00000143970	ENST00000435504;ENST00000336112;ENST00000404843;ENST00000272341	T;T;T;T	0.55930	0.5;0.49;0.99;0.99	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.75228	0.3821	M	0.78456	2.415	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.998	T	0.76255	-0.3026	10	0.87932	D	0	-9.8255	19.2273	0.93822	0.0:1.0:0.0:0.0	.	70;330	Q76L83-2;Q76L83	.;ASXL2_HUMAN	K	330;302;70;70	ENSP00000391447:E330K;ENSP00000337250:E302K;ENSP00000383920:E70K;ENSP00000272341:E70K	ENSP00000272341:E70K	E	-	1	0	ASXL2	25832439	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.672000	0.83956	2.894000	0.99253	0.655000	0.94253	GAA	ASXL2	-	NULL	ENSG00000143970		0.448	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	ASXL2	HGNC	protein_coding	OTTHUMT00000325593.3	53	0.00	0	C	NM_018263		25978935	25978935	-1	no_errors	ENST00000435504	ensembl	human	known	69_37n	missense	33	38.89	21	SNP	1.000	T
ATAD2	29028	genome.wustl.edu	37	8	124351572	124351572	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:124351572G>C	ENST00000287394.5	-	20	2940	c.2833C>G	c.(2833-2835)Cct>Gct	p.P945A	ATAD2_ENST00000521903.1_Missense_Mutation_p.P263A	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	945					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TTTGATATAGGAGGCTTAGCA	0.294																																						dbGAP											0													48.0	48.0	48.0					8																	124351572		2196	4295	6491	-	-	-	SO:0001583	missense	0			BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.2833C>G	8.37:g.124351572G>C	ENSP00000287394:p.Pro945Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.P945A	ENST00000287394.5	37	c.2833	CCDS6343.1	8	.	.	.	.	.	.	.	.	.	.	G	26.2	4.714936	0.89112	.	.	ENSG00000156802	ENST00000287394;ENST00000521903	D;T	0.93763	-3.28;1.1	5.49	5.49	0.81192	.	0.104305	0.64402	D	0.000003	D	0.95554	0.8555	M	0.81497	2.545	0.58432	D	0.999996	P	0.46784	0.884	P	0.50270	0.636	D	0.95789	0.8823	10	0.72032	D	0.01	-19.6684	19.3376	0.94324	0.0:0.0:1.0:0.0	.	945	Q6PL18	ATAD2_HUMAN	A	945;263	ENSP00000287394:P945A;ENSP00000429213:P263A	ENSP00000287394:P945A	P	-	1	0	ATAD2	124420753	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.342000	0.97044	2.718000	0.92993	0.655000	0.94253	CCT	ATAD2	-	NULL	ENSG00000156802		0.294	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD2	HGNC	protein_coding	OTTHUMT00000381766.2	109	0.00	0	G	NM_014109		124351572	124351572	-1	no_errors	ENST00000287394	ensembl	human	known	69_37n	missense	135	13.46	21	SNP	1.000	C
ATAD2	29028	genome.wustl.edu	37	8	124373837	124373837	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:124373837C>A	ENST00000287394.5	-	9	1206	c.1099G>T	c.(1099-1101)Gaa>Taa	p.E367*	ATAD2_ENST00000534257.1_5'UTR|ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	367					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TGTTCATCTTCAGAGGAGGAA	0.408																																						dbGAP											0													148.0	145.0	146.0					8																	124373837		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.1099G>T	8.37:g.124373837C>A	ENSP00000287394:p.Glu367*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Nonsense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.E367*	ENST00000287394.5	37	c.1099	CCDS6343.1	8	.	.	.	.	.	.	.	.	.	.	C	38	6.939738	0.97948	.	.	ENSG00000156802	ENST00000287394	.	.	.	5.59	5.59	0.84812	.	0.139769	0.49916	D	0.000126	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-9.0489	19.1788	0.93614	0.0:1.0:0.0:0.0	.	.	.	.	X	367	.	ENSP00000287394:E367X	E	-	1	0	ATAD2	124443018	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	5.433000	0.66520	2.614000	0.88457	0.655000	0.94253	GAA	ATAD2	-	NULL	ENSG00000156802		0.408	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD2	HGNC	protein_coding	OTTHUMT00000381766.2	74	0.00	0	C	NM_014109		124373837	124373837	-1	no_errors	ENST00000287394	ensembl	human	known	69_37n	nonsense	118	15.11	21	SNP	1.000	A
ATAD5	79915	genome.wustl.edu	37	17	29220545	29220545	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:29220545G>C	ENST00000321990.4	+	21	5052	c.4674G>C	c.(4672-4674)ttG>ttC	p.L1558F		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1558					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AACAGCCATTGAAAAAGTCCC	0.368																																						dbGAP											0													39.0	46.0	44.0					17																	29220545		2198	4294	6492	-	-	-	SO:0001583	missense	0				CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.4674G>C	17.37:g.29220545G>C	ENSP00000313171:p.Leu1558Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.L1558F	ENST00000321990.4	37	c.4674	CCDS11260.1	17	.	.	.	.	.	.	.	.	.	.	G	11.01	1.512925	0.27123	.	.	ENSG00000176208	ENST00000321990	T	0.06528	3.29	6.08	0.152	0.14893	.	2.810510	0.00906	N	0.002406	T	0.08403	0.0209	L	0.56769	1.78	0.09310	N	1	B	0.16166	0.016	B	0.14578	0.011	T	0.37957	-0.9683	10	0.25106	T	0.35	.	4.9231	0.13880	0.2863:0.0:0.4821:0.2316	.	1558	Q96QE3	ATAD5_HUMAN	F	1558	ENSP00000313171:L1558F	ENSP00000313171:L1558F	L	+	3	2	ATAD5	26244671	0.252000	0.23972	0.981000	0.43875	0.079000	0.17450	-0.055000	0.11807	0.392000	0.25172	-0.218000	0.12543	TTG	ATAD5	-	NULL	ENSG00000176208		0.368	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD5	HGNC	protein_coding	OTTHUMT00000256206.2	49	0.00	0	G	NM_024857		29220545	29220545	+1	no_errors	ENST00000321990	ensembl	human	known	69_37n	missense	30	18.92	7	SNP	0.022	C
ATF2	1386	genome.wustl.edu	37	2	175939549	175939549	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:175939549C>T	ENST00000264110.2	-	14	1604	c.1306G>A	c.(1306-1308)Gat>Aat	p.D436N	ATF2_ENST00000392544.1_Missense_Mutation_p.D436N|ATF2_ENST00000409437.1_Missense_Mutation_p.D320N|ATF2_ENST00000409635.1_Missense_Mutation_p.D378N|ATF2_ENST00000392543.2_Missense_Mutation_p.D57N|ATF2_ENST00000538946.1_3'UTR|ATF2_ENST00000426833.3_Missense_Mutation_p.D418N|ATF2_ENST00000409499.1_Missense_Mutation_p.D75N|ATF2_ENST00000487334.2_3'UTR|ATF2_ENST00000345739.5_Missense_Mutation_p.D378N	NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	P15336	ATF2_HUMAN	activating transcription factor 2	436					adipose tissue development (GO:0060612)|cellular response to DNA damage stimulus (GO:0006974)|chromatin organization (GO:0006325)|fat cell differentiation (GO:0045444)|histone acetylation (GO:0016573)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|outflow tract morphogenesis (GO:0003151)|positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902110)|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 transforming growth factor beta2 production (GO:0032915)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to osmotic stress (GO:0006970)|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)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	cAMP response element binding (GO:0035497)|cAMP response element binding protein binding (GO:0008140)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|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 distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|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 coactivator activity (GO:0003713)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)		Pseudoephedrine(DB00852)	TCTGAACTATCATCTTTATCA	0.408																																					Pancreas(17;87 705 4534 15538 30988)	dbGAP											0													91.0	88.0	89.0					2																	175939549		2203	4300	6503	-	-	-	SO:0001583	missense	0			X15875	CCDS2262.1, CCDS58737.1, CCDS58738.1, CCDS58739.1	2q32	2013-01-10			ENSG00000115966	ENSG00000115966		"""basic leucine zipper proteins"""	784	protein-coding gene	gene with protein product		123811	"""cAMP responsive element binding protein 2"""	CREB2		1833307, 1838349	Standard	NM_001880		Approved	TREB7, CRE-BP1, HB16	uc002ujl.4	P15336	OTTHUMG00000132424	ENST00000264110.2:c.1306G>A	2.37:g.175939549C>T	ENSP00000264110:p.Asp436Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3Z2|A4D7U4|A4D7U5|A4D7V1|D3DPE9|G8JLM5|Q13000|Q3B7B7|Q4ZFU9|Q53RY2|Q8TAR1|Q96JT8	Missense_Mutation	SNP	pfam_bZIP_1,pfam_bZIP_2,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_Znf_C2H2,pfscan_bZIP	p.D436N	ENST00000264110.2	37	c.1306	CCDS2262.1	2	.	.	.	.	.	.	.	.	.	.	C	15.27	2.782388	0.49891	.	.	ENSG00000115966	ENST00000264110;ENST00000345739;ENST00000542046;ENST00000409437;ENST00000409635;ENST00000392544;ENST00000409499;ENST00000426833;ENST00000392543	T;T;T;T;T;T	0.76968	-1.06;0.53;-0.46;0.53;-1.06;-1.05	5.9	5.9	0.94986	.	0.055165	0.64402	D	0.000001	T	0.77678	0.4166	N	0.22421	0.69	0.80722	D	1	B;D;B;B	0.54772	0.319;0.968;0.145;0.319	B;P;B;B	0.54889	0.077;0.763;0.048;0.077	T	0.73956	-0.3819	10	0.26408	T	0.33	-34.1124	20.2787	0.98501	0.0:1.0:0.0:0.0	.	418;75;378;436	A4D7U4;Q96JT8;Q3B7B7;P15336	.;.;.;ATF2_HUMAN	N	436;378;413;320;378;436;75;418;57	ENSP00000264110:D436N;ENSP00000340576:D378N;ENSP00000386326:D320N;ENSP00000387093:D378N;ENSP00000376327:D436N;ENSP00000407911:D418N	ENSP00000264110:D436N	D	-	1	0	ATF2	175647795	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.953000	0.75995	2.798000	0.96311	0.650000	0.86243	GAT	ATF2	-	pirsf_TF_cAMP-dep	ENSG00000115966		0.408	ATF2-001	KNOWN	basic|CCDS	protein_coding	ATF2	HGNC	protein_coding	OTTHUMT00000255562.1	85	0.00	0	C	NM_001880		175939549	175939549	-1	no_errors	ENST00000264110	ensembl	human	known	69_37n	missense	88	16.98	18	SNP	1.000	T
ATF6	22926	genome.wustl.edu	37	1	161789439	161789439	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:161789439G>A	ENST00000367942.3	+	8	993	c.926G>A	c.(925-927)aGa>aAa	p.R309K		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	309	Basic motif.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response (GO:0006990)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to stress (GO:0006950)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)		Pseudoephedrine(DB00852)	GTGCTAAGGAGACAGCAACGT	0.353																																						dbGAP											0													54.0	56.0	56.0					1																	161789439		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB015856	CCDS1235.1	1q22-q23	2013-01-10			ENSG00000118217	ENSG00000118217		"""basic leucine zipper proteins"""	791	protein-coding gene	gene with protein product	"""activating transcription factor 6 alpha"""	605537				9837962, 9271374, 11256944	Standard	NM_007348		Approved	ATF6A	uc001gbs.3	P18850	OTTHUMG00000023961	ENST00000367942.3:c.926G>A	1.37:g.161789439G>A	ENSP00000356919:p.Arg309Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O15139|Q5VW62|Q6IPB5|Q9UEC9	Missense_Mutation	SNP	pfam_bZIP_1,pfam_bZIP_2,smart_bZIP,pfscan_bZIP	p.R309K	ENST00000367942.3	37	c.926	CCDS1235.1	1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.936911	0.73557	.	.	ENSG00000118217	ENST00000367942	D	0.89939	-2.59	5.19	4.28	0.50868	Basic-leucine zipper (bZIP) transcription factor (2);bZIP transcription factor, bZIP-1 (1);	0.045583	0.85682	N	0.000000	T	0.74306	0.3699	L	0.41710	1.295	0.51482	D	0.999929	P;B	0.39443	0.674;0.046	B;B	0.37047	0.24;0.068	T	0.71560	-0.4556	9	0.28530	T	0.3	-17.7405	11.5175	0.50532	0.0877:0.0:0.9123:0.0	.	309;310	P18850;Q59H30	ATF6A_HUMAN;.	K	309	ENSP00000356919:R309K	ENSP00000356919:R309K	R	+	2	0	ATF6	160056063	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	5.561000	0.67339	1.182000	0.42928	0.650000	0.86243	AGA	ATF6	-	pfam_bZIP_1,pfam_bZIP_2,smart_bZIP,pfscan_bZIP	ENSG00000118217		0.353	ATF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATF6	HGNC	protein_coding	OTTHUMT00000060304.2	46	0.00	0	G	NM_007348		161789439	161789439	+1	no_errors	ENST00000367942	ensembl	human	known	69_37n	missense	49	14.04	8	SNP	1.000	A
ATG12	9140	genome.wustl.edu	37	5	115177243	115177243	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:115177243C>G	ENST00000509910.1	-	1	312	c.7G>C	c.(7-9)Gag>Cag	p.E3Q	ATG12_ENST00000500945.2_Missense_Mutation_p.E3Q|ATG12_ENST00000509598.1_5'Flank|ATG12_ENST00000274459.4_Missense_Mutation_p.E50Q|AP3S1_ENST00000316788.7_5'UTR			O94817	ATG12_HUMAN	autophagy related 12	3					autophagic vacuole assembly (GO:0000045)|C-terminal protein lipidation (GO:0006501)|cellular response to nitrogen starvation (GO:0006995)|innate immune response (GO:0045087)|mitochondrion degradation (GO:0000422)|negative regulation of type I interferon production (GO:0032480)|nucleophagy (GO:0044804)	Atg12-Atg5-Atg16 complex (GO:0034274)|pre-autophagosomal structure membrane (GO:0034045)	Atg8 ligase activity (GO:0019776)			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;7.59e-08)|Epithelial(69;7.05e-07)|all cancers(49;3.11e-05)		TGCGGCTCCTCCGCCATCTTG	0.612																																						dbGAP											0													75.0	85.0	81.0					5																	115177243		2202	4300	6502	-	-	-	SO:0001583	missense	0			AB017507	CCDS4122.1, CCDS4122.2, CCDS64222.1	5q21-q22	2014-02-12	2012-06-06	2005-09-11	ENSG00000145782	ENSG00000145782			588	protein-coding gene	gene with protein product	"""APG12 autophagy 12-like"""	609608	"""Apg12 (autophagy 12, S. cerevisiae)-like"", ""APG12 autophagy 12-like (S. cerevisiae)"", ""ATG12 autophagy related 12 homolog (S. cerevisiae)"""	APG12L		9852036	Standard	NM_004707		Approved	APG12	uc003krh.3	O94817	OTTHUMG00000128889	ENST00000509910.1:c.7G>C	5.37:g.115177243C>G	ENSP00000425107:p.Glu3Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6PJV2	Missense_Mutation	SNP	pfam_Autophagy-rel_prot_12,pfam_Atg8_ubiquitin-like	p.E50Q	ENST00000509910.1	37	c.148	CCDS4122.2	5	.	.	.	.	.	.	.	.	.	.	C	18.14	3.558326	0.65538	.	.	ENSG00000145782	ENST00000274459;ENST00000509910;ENST00000500945	.	.	.	4.57	4.57	0.56435	.	0.063541	0.64402	D	0.000010	T	0.76307	0.3969	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.75317	-0.3360	9	0.33940	T	0.23	-19.9141	14.6717	0.68948	0.0:1.0:0.0:0.0	.	3;50	O94817;C1IDX9	ATG12_HUMAN;.	Q	50;3;3	.	ENSP00000274459:E50Q	E	-	1	0	ATG12	115205142	0.957000	0.32711	0.987000	0.45799	0.347000	0.29111	2.644000	0.46613	2.261000	0.74972	0.655000	0.94253	GAG	ATG12	-	NULL	ENSG00000145782		0.612	ATG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG12	HGNC	protein_coding	OTTHUMT00000250851.3	47	0.00	0	C	NM_004707		115177243	115177243	-1	no_errors	ENST00000274459	ensembl	human	known	69_37n	missense	37	27.45	14	SNP	1.000	G
ATG2A	23130	genome.wustl.edu	37	11	64674139	64674139	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:64674139C>T	ENST00000377264.3	-	20	3093	c.2981G>A	c.(2980-2982)cGa>cAa	p.R994Q	ATG2A_ENST00000421419.2_Missense_Mutation_p.R994Q	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	994					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						CCTCACACCTCGGTGGTAGAG	0.617																																						dbGAP											0													83.0	82.0	82.0					11																	64674139		2201	4297	6498	-	-	-	SO:0001583	missense	0				CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"""ATG2 autophagy related 2 homolog A (S. cerevisiae)"""			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.2981G>A	11.37:g.64674139C>T	ENSP00000366475:p.Arg994Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.R994Q	ENST00000377264.3	37	c.2981	CCDS31602.1	11	.	.	.	.	.	.	.	.	.	.	C	8.848	0.943979	0.18281	.	.	ENSG00000110046	ENST00000421419;ENST00000377264	T;T	0.05855	3.38;3.38	5.39	-0.89	0.10577	.	0.589534	0.16555	N	0.209303	T	0.02848	0.0085	N	0.08118	0	0.30018	N	0.814555	B	0.16603	0.018	B	0.06405	0.002	T	0.43653	-0.9378	10	0.16896	T	0.51	.	10.0587	0.42261	0.0:0.4464:0.0:0.5536	.	994	Q2TAZ0	ATG2A_HUMAN	Q	994	ENSP00000410522:R994Q;ENSP00000366475:R994Q	ENSP00000366475:R994Q	R	-	2	0	ATG2A	64430715	0.806000	0.28996	0.990000	0.47175	0.810000	0.45777	-0.151000	0.10175	-0.105000	0.12132	-0.137000	0.14449	CGA	ATG2A	-	NULL	ENSG00000110046		0.617	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATG2A	HGNC	protein_coding	OTTHUMT00000143224.1	34	0.00	0	C	NM_015104		64674139	64674139	-1	no_errors	ENST00000421419	ensembl	human	known	69_37n	missense	45	31.82	21	SNP	0.966	T
ATG2A	23130	genome.wustl.edu	37	11	64681348	64681348	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:64681348C>A	ENST00000377264.3	-	4	647	c.535G>T	c.(535-537)Gag>Tag	p.E179*	ATG2A_ENST00000421419.2_Nonsense_Mutation_p.E179*	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	179					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GGAGAGTGCTCCACCCTCACG	0.617																																						dbGAP											0													122.0	103.0	109.0					11																	64681348		2201	4297	6498	-	-	-	SO:0001587	stop_gained	0				CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"""ATG2 autophagy related 2 homolog A (S. cerevisiae)"""			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.535G>T	11.37:g.64681348C>A	ENSP00000366475:p.Glu179*	Somatic		WXS	Illumina GAIIx	Phase_IV	O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Nonsense_Mutation	SNP	pfam_Autophagy-rel_C	p.E179*	ENST00000377264.3	37	c.535	CCDS31602.1	11	.	.	.	.	.	.	.	.	.	.	c	32	5.167928	0.94768	.	.	ENSG00000110046	ENST00000421419;ENST00000377264;ENST00000227459	.	.	.	3.89	3.89	0.44902	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.7924	0.63150	0.0:1.0:0.0:0.0	.	.	.	.	X	179	.	ENSP00000227459:E179X	E	-	1	0	ATG2A	64437924	1.000000	0.71417	0.987000	0.45799	0.691000	0.40173	6.675000	0.74493	2.205000	0.71048	0.457000	0.33378	GAG	ATG2A	-	NULL	ENSG00000110046		0.617	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATG2A	HGNC	protein_coding	OTTHUMT00000143224.1	65	0.00	0	C	NM_015104		64681348	64681348	-1	no_errors	ENST00000421419	ensembl	human	known	69_37n	nonsense	129	12.84	19	SNP	0.999	A
ATG7	10533	genome.wustl.edu	37	3	11356878	11356878	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:11356878C>T	ENST00000354449.3	+	7	614	c.589C>T	c.(589-591)Cct>Tct	p.P197S	ATG7_ENST00000446450.2_Missense_Mutation_p.P158S|ATG7_ENST00000354956.5_Missense_Mutation_p.P197S	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	197					adult walking behavior (GO:0007628)|C-terminal protein lipidation (GO:0006501)|cardiac muscle cell development (GO:0055013)|cellular amino acid metabolic process (GO:0006520)|cellular protein modification process (GO:0006464)|cellular response to hyperoxia (GO:0071455)|cellular response to nitrogen starvation (GO:0006995)|cellular response to starvation (GO:0009267)|central nervous system neuron axonogenesis (GO:0021955)|cerebellar Purkinje cell layer development (GO:0021680)|cerebral cortex development (GO:0021987)|late nucleophagy (GO:0044805)|liver development (GO:0001889)|membrane fusion (GO:0061025)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative stranded viral RNA replication (GO:0039689)|neurological system process (GO:0050877)|piecemeal microautophagy of nucleus (GO:0034727)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein modification process (GO:0031401)|post-embryonic development (GO:0009791)|protein catabolic process (GO:0030163)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)|pyramidal neuron development (GO:0021860)|regulation of protein ubiquitination (GO:0031396)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)	Atg12 activating enzyme activity (GO:0019778)|Atg8 activating enzyme (GO:0019779)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)|ubiquitin activating enzyme activity (GO:0004839)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						CACAGCTCTTCCTTACTTCTT	0.373																																						dbGAP											0													115.0	103.0	107.0					3																	11356878		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF094516	CCDS2605.1, CCDS46752.1, CCDS46753.1	3p25.3-p25.2	2014-02-18	2012-06-06	2005-09-11	ENSG00000197548	ENSG00000197548		"""Ubiquitin-like modifier activating enzymes"""	16935	protein-coding gene	gene with protein product	"""ubiquitin-activating enzyme E1-like protein"""	608760	"""APG7 autophagy 7-like (S. cerevisiae)"", ""ATG7 autophagy related 7 homolog (S. cerevisiae)"""	APG7L		10233149	Standard	NM_006395		Approved	GSA7, DKFZp434N0735	uc003bwc.3	O95352	OTTHUMG00000129740	ENST00000354449.3:c.589C>T	3.37:g.11356878C>T	ENSP00000346437:p.Pro197Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E170|E9PB95|Q7L8L0|Q9BWP2|Q9UFH4	Missense_Mutation	SNP	pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_E1-like_Apg7	p.P197S	ENST00000354449.3	37	c.589	CCDS2605.1	3	.	.	.	.	.	.	.	.	.	.	C	16.54	3.151971	0.57151	.	.	ENSG00000197548	ENST00000446450;ENST00000354956;ENST00000354449	T;T;T	0.41400	1.0;1.0;1.0	4.76	4.76	0.60689	.	0.000000	0.64402	D	0.000001	T	0.47655	0.1457	M	0.76002	2.32	0.51767	D	0.999936	P;P;P	0.46621	0.881;0.698;0.881	B;B;B	0.43478	0.421;0.326;0.256	T	0.53272	-0.8462	9	.	.	.	-8.4023	14.6965	0.69126	0.0:1.0:0.0:0.0	.	158;197;197	E9PB95;O95352-2;O95352	.;.;ATG7_HUMAN	S	158;197;197	ENSP00000412580:P158S;ENSP00000347042:P197S;ENSP00000346437:P197S	.	P	+	1	0	ATG7	11331878	1.000000	0.71417	0.994000	0.49952	0.995000	0.86356	5.909000	0.69923	2.173000	0.68751	0.655000	0.94253	CCT	ATG7	-	tigrfam_E1-like_Apg7	ENSG00000197548		0.373	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG7	HGNC	protein_coding	OTTHUMT00000251951.3	115	0.00	0	C	NM_006395		11356878	11356878	+1	no_errors	ENST00000354449	ensembl	human	known	69_37n	missense	91	19.47	22	SNP	1.000	T
ATG3	64422	genome.wustl.edu	37	3	112256647	112256647	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:112256647C>T	ENST00000283290.5	-	9	1035	c.601G>A	c.(601-603)Gac>Aac	p.D201N	ATG3_ENST00000402314.2_Missense_Mutation_p.D201N|ATG3_ENST00000495756.1_5'UTR	NM_022488.3	NP_071933.2	Q9NT62	ATG3_HUMAN	autophagy related 3	201					autophagic vacuole assembly (GO:0000045)|cellular protein modification process (GO:0006464)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)|protein targeting to membrane (GO:0006612)|protein ubiquitination (GO:0016567)|regulation of cilium assembly (GO:1902017)	cytoplasmic ubiquitin ligase complex (GO:0000153)|cytosol (GO:0005829)	Atg12 ligase activity (GO:0019777)|Atg8 ligase activity (GO:0019776)|enzyme binding (GO:0019899)|small conjugating protein ligase activity (GO:0019787)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(3)	9						ATGTAAAGGTCATAAGTTCTG	0.333																																						dbGAP											0													113.0	108.0	110.0					3																	112256647		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2966.1, CCDS63721.1	3q13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000144848	ENSG00000144848			20962	protein-coding gene	gene with protein product		609606	"""APG3 autophagy 3-like (S. cerevisiae)"", ""ATG3 autophagy related 3 homolog (S. cerevisiae)"""	APG3L		11825910	Standard	NM_022488		Approved	PC3-96, FLJ22125, MGC15201, DKFZp564M1178	uc003dzd.3	Q9NT62	OTTHUMG00000159260	ENST00000283290.5:c.601G>A	3.37:g.112256647C>T	ENSP00000283290:p.Asp201Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6PKC5|Q9H6L9	Missense_Mutation	SNP	pfam_Autophagy-rel_prot_3_N,pfam_Autophagy-rel_prot_3,pfam_Autophagy-rel_prot_3_C	p.D201N	ENST00000283290.5	37	c.601	CCDS2966.1	3	.	.	.	.	.	.	.	.	.	.	C	31	5.084819	0.94100	.	.	ENSG00000144848	ENST00000283290;ENST00000402314	.	.	.	5.96	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.80019	0.4547	M	0.80508	2.5	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.97110	1.0;0.919	T	0.82796	-0.0280	9	0.62326	D	0.03	-5.8398	15.3514	0.74389	0.0:0.9333:0.0:0.0667	.	201;201	Q9NT62;Q9NT62-2	ATG3_HUMAN;.	N	201	.	ENSP00000283290:D201N	D	-	1	0	ATG3	113739337	1.000000	0.71417	0.925000	0.36789	0.926000	0.56050	5.715000	0.68430	1.532000	0.49169	0.655000	0.94253	GAC	ATG3	-	NULL	ENSG00000144848		0.333	ATG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG3	HGNC	protein_coding	OTTHUMT00000354147.1	178	0.00	0	C	NM_022488		112256647	112256647	-1	no_errors	ENST00000283290	ensembl	human	known	69_37n	missense	158	27.19	59	SNP	1.000	T
ATHL1	80162	genome.wustl.edu	37	11	294744	294744	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:294744G>T	ENST00000409548.2	+	14	2324	c.2209G>T	c.(2209-2211)Gaa>Taa	p.E737*	ATHL1_ENST00000409655.1_Nonsense_Mutation_p.E489*|ATHL1_ENST00000409479.1_Nonsense_Mutation_p.E764*	NM_025092.4	NP_079368.3	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1 (yeast)	737					carbohydrate metabolic process (GO:0005975)		hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		CCCTGCCTCTGAATAATCAGG	0.622																																						dbGAP											0													65.0	77.0	73.0					11																	294744		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK090428	CCDS31322.2	11p15.5	2005-10-27			ENSG00000142102	ENSG00000142102			26210	protein-coding gene	gene with protein product							Standard	NM_025092		Approved	FLJ22635	uc010qvu.2	Q32M88	OTTHUMG00000153218	ENST00000409548.2:c.2209G>T	11.37:g.294744G>T	ENSP00000387185:p.Glu737*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q658X8|Q8TEG9|Q9H635	Nonsense_Mutation	SNP	pfam_Glyco_hydro_65_M,superfamily_6-hairpin_glycosidase-like	p.E737*	ENST00000409548.2	37	c.2209	CCDS31322.2	11	.	.	.	.	.	.	.	.	.	.	G	37	6.137193	0.97315	.	.	ENSG00000142102	ENST00000409548;ENST00000409655;ENST00000409479	.	.	.	2.56	-2.1	0.07210	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	6.8257	0.23883	0.6788:0.0:0.3212:0.0	.	.	.	.	X	737;489;764	.	ENSP00000387099:E764X	E	+	1	0	ATHL1	284744	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.113000	0.10774	-0.552000	0.06167	0.462000	0.41574	GAA	ATHL1	-	NULL	ENSG00000142102		0.622	ATHL1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATHL1	HGNC	protein_coding	OTTHUMT00000330164.3	41	0.00	0	G	NM_025092		294744	294744	+1	no_errors	ENST00000409548	ensembl	human	known	69_37n	nonsense	59	14.49	10	SNP	0.000	T
ATL2	64225	genome.wustl.edu	37	2	38523229	38523229	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:38523229C>G	ENST00000378954.4	-	13	1660	c.1659G>C	c.(1657-1659)ttG>ttC	p.L553F	ATL2_ENST00000539122.1_Missense_Mutation_p.L382F|ATL2_ENST00000332337.4_3'UTR|ATL2_ENST00000402054.1_Missense_Mutation_p.L382F|ATL2_ENST00000419554.2_3'UTR|ATL2_ENST00000406122.1_3'UTR|ATL2_ENST00000452935.2_Missense_Mutation_p.L535F	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2	553					endoplasmic reticulum organization (GO:0007029)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						TTTCCTCCATCAAATTATCAC	0.373																																						dbGAP											0													256.0	206.0	221.0					2																	38523229		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS1795.1, CCDS46260.1	2p22.3	2008-09-17	2008-09-17	2008-09-17	ENSG00000119787	ENSG00000119787			24047	protein-coding gene	gene with protein product		609368	"""ADP-ribosylation factor-like 6 interacting protein 2"""	ARL6IP2		10508919, 18270207	Standard	NM_022374		Approved		uc002rqq.3	Q8NHH9	OTTHUMG00000102074	ENST00000378954.4:c.1659G>C	2.37:g.38523229C>G	ENSP00000368237:p.Leu553Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z1X2|B7Z7X8|Q4ZG30|Q7Z630|Q8NHH8|Q9H5M7	Missense_Mutation	SNP	pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C	p.L553F	ENST00000378954.4	37	c.1659	CCDS46260.1	2	.	.	.	.	.	.	.	.	.	.	C	0.503	-0.870082	0.02570	.	.	ENSG00000119787	ENST00000378954;ENST00000402054;ENST00000539122;ENST00000452935	D;D;D;D	0.91945	-2.94;-2.94;-2.94;-2.94	5.35	4.46	0.54185	.	0.494025	0.23239	N	0.050373	D	0.85592	0.5732	L	0.34521	1.04	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.79191	-0.1905	10	0.12103	T	0.63	-5.2366	12.5333	0.56128	0.0:0.9199:0.0:0.0801	.	535;553	B7Z7X8;Q8NHH9	.;ATLA2_HUMAN	F	553;382;382;535	ENSP00000368237:L553F;ENSP00000384062:L382F;ENSP00000446192:L382F;ENSP00000390743:L535F	ENSP00000368237:L553F	L	-	3	2	ATL2	38376733	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.956000	0.40382	2.503000	0.84419	0.655000	0.94253	TTG	ATL2	-	NULL	ENSG00000119787		0.373	ATL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATL2	HGNC	protein_coding	OTTHUMT00000219886.2	158	0.00	0	C	NM_022374		38523229	38523229	-1	no_errors	ENST00000378954	ensembl	human	known	69_37n	missense	111	23.45	34	SNP	1.000	G
ATL2	64225	genome.wustl.edu	37	2	38570580	38570580	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:38570580G>C	ENST00000378954.4	-	2	194	c.193C>G	c.(193-195)Ctt>Gtt	p.L65V	ATL2_ENST00000539122.1_Intron|ATL2_ENST00000332337.4_Missense_Mutation_p.L47V|ATL2_ENST00000402054.1_Intron|ATL2_ENST00000419554.2_Missense_Mutation_p.L65V|ATL2_ENST00000486927.1_5'UTR|ATL2_ENST00000406122.1_Intron|ATL2_ENST00000546051.1_Intron|ATL2_ENST00000452935.2_Missense_Mutation_p.L47V	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2	65					endoplasmic reticulum organization (GO:0007029)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)	p.L65F(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						TCATGAGCAAGAACAATCTGT	0.363																																						dbGAP											1	Substitution - Missense(1)	lung(1)											119.0	113.0	115.0					2																	38570580		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1795.1, CCDS46260.1	2p22.3	2008-09-17	2008-09-17	2008-09-17	ENSG00000119787	ENSG00000119787			24047	protein-coding gene	gene with protein product		609368	"""ADP-ribosylation factor-like 6 interacting protein 2"""	ARL6IP2		10508919, 18270207	Standard	NM_022374		Approved		uc002rqq.3	Q8NHH9	OTTHUMG00000102074	ENST00000378954.4:c.193C>G	2.37:g.38570580G>C	ENSP00000368237:p.Leu65Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z1X2|B7Z7X8|Q4ZG30|Q7Z630|Q8NHH8|Q9H5M7	Missense_Mutation	SNP	pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C	p.L65V	ENST00000378954.4	37	c.193	CCDS46260.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.54|10.54	1.379880|1.379880	0.24944|0.24944	.|.	.|.	ENSG00000119787|ENSG00000119787	ENST00000443098|ENST00000378954;ENST00000332337;ENST00000419554;ENST00000452935;ENST00000451483	.|T;T;T;T;T	.|0.61274	.|0.12;0.12;0.12;0.12;0.12	5.23|5.23	3.3|3.3	0.37823|0.37823	.|.	.|0.197863	.|0.45126	.|N	.|0.000392	T|T	0.44201|0.44201	0.1282|0.1282	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	.|B;B;B;B	.|0.09022	.|0.001;0.002;0.001;0.0	.|B;B;B;B	.|0.10450	.|0.001;0.005;0.005;0.002	T|T	0.41963|0.41963	-0.9479|-0.9479	5|10	.|0.51188	.|T	.|0.08	-9.1384|-9.1384	11.2527|11.2527	0.49034|0.49034	0.0:0.1372:0.7203:0.1425|0.0:0.1372:0.7203:0.1425	.|.	.|47;47;65;65	.|B7Z7X8;Q8NHH9-4;Q8NHH9-2;Q8NHH9	.|.;.;.;ATLA2_HUMAN	L|V	63|65;47;65;47;102	.|ENSP00000368237:L65V;ENSP00000333393:L47V;ENSP00000415336:L65V;ENSP00000390743:L47V;ENSP00000404921:L102V	.|ENSP00000333393:L47V	F|L	-|-	3|1	2|0	ATL2|ATL2	38424084|38424084	1.000000|1.000000	0.71417|0.71417	0.947000|0.947000	0.38551|0.38551	0.991000|0.991000	0.79684|0.79684	2.792000|2.792000	0.47837|0.47837	1.385000|1.385000	0.46445|0.46445	0.555000|0.555000	0.69702|0.69702	TTC|CTT	ATL2	-	NULL	ENSG00000119787		0.363	ATL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATL2	HGNC	protein_coding	OTTHUMT00000219886.2	73	0.00	0	G	NM_022374		38570580	38570580	-1	no_errors	ENST00000378954	ensembl	human	known	69_37n	missense	74	12.94	11	SNP	0.683	C
ATM	472	genome.wustl.edu	37	11	108100034	108100034	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:108100034C>T	ENST00000452508.2	+	5	504	c.315C>T	c.(313-315)atC>atT	p.I105I	Y_RNA_ENST00000384240.1_RNA|ATM_ENST00000278616.4_Silent_p.I105I			Q13315	ATM_HUMAN	ATM serine/threonine kinase	105					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	AATACTTCATCAAATGTGCAA	0.338			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												dbGAP	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	0													48.0	48.0	48.0					11																	108100034		2201	4298	6499	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.315C>T	11.37:g.108100034C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Silent	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,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.I105	ENST00000452508.2	37	c.315	CCDS31669.1	11																																																																																			ATM	-	pfam_TAN	ENSG00000149311		0.338	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATM	HGNC	protein_coding	OTTHUMT00000389938.1	61	0.00	0	C	NM_000051		108100034	108100034	+1	no_errors	ENST00000278616	ensembl	human	known	69_37n	silent	46	20.69	12	SNP	1.000	T
ATN1	1822	genome.wustl.edu	37	12	7048312	7048312	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:7048312C>G	ENST00000356654.4	+	7	3423	c.3186C>G	c.(3184-3186)caC>caG	p.H1062Q	ATN1_ENST00000396684.2_Missense_Mutation_p.H1062Q	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	1062					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						CGCACCTGCACCTGCACCAGC	0.607																																						dbGAP											0													75.0	50.0	58.0					12																	7048312		2188	4261	6449	-	-	-	SO:0001583	missense	0			U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.3186C>G	12.37:g.7048312C>G	ENSP00000349076:p.His1062Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q99495|Q99621|Q9UEK7	Missense_Mutation	SNP	pfam_Atrophin-like,prints_Atrophin-1	p.H1062Q	ENST00000356654.4	37	c.3186	CCDS31734.1	12	.	.	.	.	.	.	.	.	.	.	C	13.17	2.157180	0.38119	.	.	ENSG00000111676	ENST00000356654;ENST00000396684;ENST00000544325;ENST00000229279	D;D;D	0.82803	-1.65;-1.65;-1.65	4.95	1.86	0.25419	.	0.476692	0.15329	U	0.268108	T	0.81029	0.4738	L	0.57536	1.79	0.48762	D	0.999703	B	0.25007	0.116	B	0.31245	0.126	T	0.79176	-0.1911	10	0.87932	D	0	.	12.5518	0.56231	0.0:0.7947:0.0:0.2053	.	1062	P54259	ATN1_HUMAN	Q	1062;1062;1062;647	ENSP00000349076:H1062Q;ENSP00000379915:H1062Q;ENSP00000441744:H1062Q	ENSP00000229279:H647Q	H	+	3	2	ATN1	6918573	0.565000	0.26610	1.000000	0.80357	0.971000	0.66376	-0.183000	0.09712	0.655000	0.30866	0.655000	0.94253	CAC	ATN1	-	pfam_Atrophin-like	ENSG00000111676		0.607	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATN1	HGNC	protein_coding	OTTHUMT00000401948.2	35	0.00	0	C	NM_001940		7048312	7048312	+1	no_errors	ENST00000356654	ensembl	human	known	69_37n	missense	21	25.00	7	SNP	0.998	G
ATP10A	57194	genome.wustl.edu	37	15	25940219	25940219	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:25940219C>G	ENST00000356865.6	-	14	2946	c.2835G>C	c.(2833-2835)aaG>aaC	p.K945N		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	945					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TGCCCTTGGTCTTCTCAGGGG	0.617																																						dbGAP											0													123.0	113.0	116.0					15																	25940219		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.2835G>C	15.37:g.25940219C>G	ENSP00000349325:p.Lys945Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G0S9|Q969I4	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.K945N	ENST00000356865.6	37	c.2835	CCDS32178.1	15	.	.	.	.	.	.	.	.	.	.	C	4.838	0.155778	0.09236	.	.	ENSG00000206190	ENST00000356865	T	0.07021	3.23	4.91	2.74	0.32292	HAD-like domain (1);	1.033840	0.07546	N	0.914735	T	0.04724	0.0128	N	0.13272	0.32	0.09310	N	0.999999	B	0.10296	0.003	B	0.12837	0.008	T	0.45175	-0.9279	10	0.18276	T	0.48	-17.7856	3.341	0.07118	0.0:0.3335:0.4317:0.2348	.	945	O60312	AT10A_HUMAN	N	945	ENSP00000349325:K945N	ENSP00000349325:K945N	K	-	3	2	ATP10A	23491312	0.468000	0.25839	0.891000	0.34965	0.029000	0.11900	0.356000	0.20181	1.157000	0.42530	0.563000	0.77884	AAG	ATP10A	-	superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transl	ENSG00000206190		0.617	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10A	HGNC	protein_coding	OTTHUMT00000414830.1	80	0.00	0	C	NM_024490		25940219	25940219	-1	no_errors	ENST00000356865	ensembl	human	known	69_37n	missense	44	29.03	18	SNP	0.173	G
ATP10D	57205	genome.wustl.edu	37	4	47527619	47527619	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:47527619G>A	ENST00000273859.3	+	5	1005	c.736G>A	c.(736-738)Gaa>Aaa	p.E246K	ATP10D_ENST00000504445.1_Missense_Mutation_p.E246K	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	246					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						GATAGAATGTGAAAGCCCAAA	0.363																																						dbGAP											0													102.0	101.0	101.0					4																	47527619		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.736G>A	4.37:g.47527619G>A	ENSP00000273859:p.Glu246Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.E246K	ENST00000273859.3	37	c.736	CCDS3476.1	4	.	.	.	.	.	.	.	.	.	.	G	33	5.275054	0.95459	.	.	ENSG00000145246	ENST00000273859;ENST00000504445	T;T	0.76060	-0.99;-0.99	5.65	5.65	0.86999	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.92008	0.7468	H	0.98426	4.23	0.58432	D	0.999997	D;D	0.61080	0.989;0.989	D;D	0.70016	0.967;0.945	D	0.94449	0.7665	10	0.72032	D	0.01	-25.0766	19.0608	0.93091	0.0:0.0:1.0:0.0	.	246;246	Q9P241;Q6PEW3	AT10D_HUMAN;.	K	246	ENSP00000273859:E246K;ENSP00000420909:E246K	ENSP00000273859:E246K	E	+	1	0	ATP10D	47222376	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	9.775000	0.98995	2.811000	0.96726	0.655000	0.94253	GAA	ATP10D	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl	ENSG00000145246		0.363	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10D	HGNC	protein_coding	OTTHUMT00000216900.1	79	0.00	0	G	NM_020453		47527619	47527619	+1	no_errors	ENST00000273859	ensembl	human	known	69_37n	missense	59	14.49	10	SNP	1.000	A
ATP11A	23250	genome.wustl.edu	37	13	113460601	113460601	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr13:113460601C>G	ENST00000487903.1	+	4	415	c.327C>G	c.(325-327)atC>atG	p.I109M	ATP11A_ENST00000375645.3_Missense_Mutation_p.I109M|ATP11A_ENST00000375630.2_Missense_Mutation_p.I109M|ATP11A_ENST00000283558.8_Missense_Mutation_p.I109M			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	109					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				TGACGGCTATCAAACAGGTAA	0.403																																						dbGAP											0													153.0	137.0	142.0					13																	113460601		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"""ATPases / P-type"""	13552	protein-coding gene	gene with protein product	"""potential phospholipid-transporting ATPase IH"", ""phospholipid-translocating ATPase"""	605868	"""ATPase, Class VI, type 11A"""			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.327C>G	13.37:g.113460601C>G	ENSP00000420387:p.Ile109Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VXT2	Nonsense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.S84*	ENST00000487903.1	37	c.251	CCDS32011.1	13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.96|13.96	2.393095|2.393095	0.42410|0.42410	.|.	.|.	ENSG00000068650|ENSG00000068650	ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558|ENST00000418678	T;T;T;T|.	0.80824|.	-1.42;-1.42;-1.42;-1.42|.	5.2|5.2	5.2|5.2	0.72013|0.72013	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);|.	0.150569|.	0.56097|.	D|.	0.000024|.	T|.	0.70202|.	0.3197|.	M|M	0.85041|0.85041	2.73|2.73	0.50313|0.50313	D|D	0.999866|0.999866	P;B|.	0.39250|.	0.665;0.268|.	P;B|.	0.47705|.	0.555;0.349|.	T|.	0.73401|.	-0.3994|.	10|.	0.59425|.	D|.	0.04|.	.|.	6.8832|6.8832	0.24185|0.24185	0.1754:0.737:0.0:0.0876|0.1754:0.737:0.0:0.0876	.|.	109;109|.	E9PEJ6;P98196|.	.;AT11A_HUMAN|.	M|X	109|84	ENSP00000420387:I109M;ENSP00000364781:I109M;ENSP00000364796:I109M;ENSP00000283558:I109M|.	ENSP00000283558:I109M|.	I|S	+|+	3|2	3|0	ATP11A|ATP11A	112508602|112508602	0.989000|0.989000	0.36119|0.36119	1.000000|1.000000	0.80357|0.80357	0.266000|0.266000	0.26442|0.26442	0.216000|0.216000	0.17585|0.17585	2.423000|2.423000	0.82170|0.82170	0.561000|0.561000	0.74099|0.74099	ATC|TCA	ATP11A	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	ENSG00000068650		0.403	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATP11A	HGNC	protein_coding	OTTHUMT00000045834.3	86	0.00	0	C	NM_015205		113460601	113460601	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000418678	ensembl	human	novel	69_37n	nonsense	31	56.94	41	SNP	1.000	G
ATP11A	23250	genome.wustl.edu	37	13	113505389	113505389	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr13:113505389G>A	ENST00000487903.1	+	18	1936	c.1848G>A	c.(1846-1848)ctG>ctA	p.L616L	ATP11A_ENST00000375645.3_Silent_p.L616L|ATP11A_ENST00000375630.2_Silent_p.L616L|ATP11A_ENST00000283558.8_Silent_p.L616L			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	616					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				ATAAAAGGCTGATCCAAGAAG	0.448																																						dbGAP											0													133.0	134.0	134.0					13																	113505389		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"""ATPases / P-type"""	13552	protein-coding gene	gene with protein product	"""potential phospholipid-transporting ATPase IH"", ""phospholipid-translocating ATPase"""	605868	"""ATPase, Class VI, type 11A"""			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.1848G>A	13.37:g.113505389G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VXT2	Silent	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.L616	ENST00000487903.1	37	c.1848	CCDS32011.1	13																																																																																			ATP11A	-	superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_Plipid-transl	ENSG00000068650		0.448	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATP11A	HGNC	protein_coding	OTTHUMT00000045834.3	117	0.00	0	G	NM_015205		113505389	113505389	+1	no_errors	ENST00000375630	ensembl	human	known	69_37n	silent	65	43.48	50	SNP	0.083	A
ATP1A1	476	genome.wustl.edu	37	1	116929934	116929934	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:116929934G>C	ENST00000295598.5	+	4	460	c.208G>C	c.(208-210)Gag>Cag	p.E70Q	ATP1A1_ENST00000369496.4_Missense_Mutation_p.E39Q|ATP1A1_ENST00000537345.1_Missense_Mutation_p.E70Q	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	70					ATP biosynthetic process (GO:0006754)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	TCGTGCAGCTGAGATCCTGGC	0.507																																						dbGAP											0													86.0	81.0	82.0					1																	116929934		2203	4300	6503	-	-	-	SO:0001583	missense	0			D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"""ATPases / P-type"""	799	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-1"", ""sodium pump subunit alpha-1"", ""sodium-potassium ATPase catalytic subunit alpha-1"""	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.208G>C	1.37:g.116929934G>C	ENSP00000295598:p.Glu70Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr	p.E70Q	ENST00000295598.5	37	c.208	CCDS887.1	1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.404057	0.83230	.	.	ENSG00000163399	ENST00000418797;ENST00000295598;ENST00000537345;ENST00000369494;ENST00000339159;ENST00000369496	T;T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24;-1.24	5.34	5.34	0.76211	ATPase, P-type cation-transporter, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.69360	0.3102	L	0.49778	1.585	0.80722	D	1	P;P	0.43392	0.608;0.805	B;B	0.40982	0.18;0.345	T	0.74038	-0.3793	10	0.54805	T	0.06	.	19.2055	0.93728	0.0:0.0:1.0:0.0	.	70;70	F5H3A1;P05023	.;AT1A1_HUMAN	Q	39;70;70;39;69;39	ENSP00000400124:E39Q;ENSP00000295598:E70Q;ENSP00000445306:E70Q;ENSP00000358506:E39Q;ENSP00000358508:E39Q	ENSP00000295598:E70Q	E	+	1	0	ATP1A1	116731457	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.788000	0.85771	2.773000	0.95371	0.655000	0.94253	GAG	ATP1A1	-	pfam_ATPase_P-typ_cation-transptr_N,smart_ATPase_P-typ_cation-transptr_N,tigrfam_ATPase_P-typ_cation-ex_asu_euk	ENSG00000163399		0.507	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP1A1	HGNC	protein_coding	OTTHUMT00000033481.5	81	0.00	0	G	NM_001160233		116929934	116929934	+1	no_errors	ENST00000295598	ensembl	human	known	69_37n	missense	62	19.48	15	SNP	1.000	C
ATP1A4	480	genome.wustl.edu	37	1	160134050	160134050	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:160134050G>A	ENST00000368081.4	+	7	1354	c.883G>A	c.(883-885)Gag>Aag	p.E295K		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	295					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TATCGCTGCTGAGATCGAACA	0.562																																						dbGAP											0													262.0	209.0	227.0					1																	160134050		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.883G>A	1.37:g.160134050G>A	ENSP00000357060:p.Glu295Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr	p.E295K	ENST00000368081.4	37	c.883	CCDS1197.1	1	.	.	.	.	.	.	.	.	.	.	G	19.10	3.761752	0.69763	.	.	ENSG00000132681	ENST00000368081	D	0.90004	-2.6	4.54	4.54	0.55810	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.92202	0.7527	M	0.62088	1.915	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92922	0.6356	10	0.87932	D	0	.	15.1903	0.73038	0.0:0.0:1.0:0.0	.	295	Q13733	AT1A4_HUMAN	K	295	ENSP00000357060:E295K	ENSP00000357060:E295K	E	+	1	0	ATP1A4	158400674	1.000000	0.71417	0.707000	0.30419	0.038000	0.13279	9.601000	0.98297	2.512000	0.84698	0.655000	0.94253	GAG	ATP1A4	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr	ENSG00000132681		0.562	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP1A4	HGNC	protein_coding	OTTHUMT00000077415.1	173	0.00	0	G	NM_144699		160134050	160134050	+1	no_errors	ENST00000368081	ensembl	human	known	69_37n	missense	210	17.65	45	SNP	0.999	A
ATP1B2	482	genome.wustl.edu	37	17	7556729	7556729	+	Silent	SNP	C	C	T	rs564913324		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:7556729C>T	ENST00000250111.4	+	2	557	c.150C>T	c.(148-150)ttC>ttT	p.F50F		NM_001678.3	NP_001669.3	P14415	AT1B2_HUMAN	ATPase, Na+/K+ transporting, beta 2 polypeptide	50					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|leukocyte migration (GO:0050900)|membrane repolarization (GO:0086009)|positive regulation of ATP catabolic process (GO:1903291)|positive regulation of ATPase activity (GO:0032781)|positive regulation of potassium ion import (GO:1903288)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of sodium ion export from cell (GO:1903278)|potassium ion import (GO:0010107)|protein stabilization (GO:0050821)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|sodium:potassium-exchanging ATPase activity (GO:0005391)	p.0?(2)|p.?(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|pancreas(1)	10		all_cancers(10;0.000178)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)		TTTATGGGTTCCTCACCGCCA	0.562																																						dbGAP											3	Whole gene deletion(2)|Unknown(1)	haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|bone(1)											194.0	157.0	169.0					17																	7556729		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U45945	CCDS32550.1	17p13.1	2012-10-22			ENSG00000129244	ENSG00000129244	3.6.3.9	"""ATPases / P-type"""	805	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit beta-2"", ""sodium pump subunit beta-2"", ""sodium-potassium ATPase subunit beta 2 (non-catalytic)"""	182331				1699290	Standard	NM_001678		Approved	AMOG	uc002gif.1	P14415		ENST00000250111.4:c.150C>T	17.37:g.7556729C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV17|A8K278|D3DTQ2|O60444	Silent	SNP	pfam_ATPase_P-typ_cation-exchng_bsu,tigrfam_ATPase_P-typ_cation-exchng_bsu	p.F50	ENST00000250111.4	37	c.150	CCDS32550.1	17																																																																																			ATP1B2	-	pfam_ATPase_P-typ_cation-exchng_bsu,tigrfam_ATPase_P-typ_cation-exchng_bsu	ENSG00000129244		0.562	ATP1B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP1B2	HGNC	protein_coding	OTTHUMT00000440234.1	110	0.00	0	C	NM_001678		7556729	7556729	+1	no_errors	ENST00000250111	ensembl	human	known	69_37n	silent	85	25.44	29	SNP	1.000	T
ATP2A1	487	genome.wustl.edu	37	16	28890878	28890878	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:28890878C>T	ENST00000357084.3	+	3	460	c.193C>T	c.(193-195)Ctc>Ttc	p.L65F	ATP2A1_ENST00000395503.4_Missense_Mutation_p.L65F|ATP2A1_ENST00000536376.1_5'Flank|SNORA43_ENST00000516652.1_RNA|RP11-22P6.3_ENST00000561547.1_RNA|RP11-22P6.3_ENST00000566956.1_RNA	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	65					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						GGTGCGGATTCTCCTCCTGGC	0.637																																						dbGAP											0													109.0	95.0	100.0					16																	28890878		2197	4300	6497	-	-	-	SO:0001583	missense	0				CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"""ATPases / P-type"""	811	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 1"", ""calcium pump 1"""	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.193C>T	16.37:g.28890878C>T	ENSP00000349595:p.Leu65Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr	p.L65F	ENST00000357084.3	37	c.193	CCDS10643.1	16	.	.	.	.	.	.	.	.	.	.	C	24.0	4.485217	0.84854	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000395498	D;D	0.93906	-3.31;-3.31	5.47	5.47	0.80525	ATPase, P-type cation-transporter, N-terminal (2);ATPase, P-type,  transmembrane domain (1);	0.134831	0.50627	D	0.000108	D	0.98689	0.9560	H	0.99965	5.09	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.991	D	0.99379	1.0922	10	0.87932	D	0	.	18.0917	0.89477	0.0:1.0:0.0:0.0	.	65;65	O14983;O14983-2	AT2A1_HUMAN;.	F	65;65;102	ENSP00000349595:L65F;ENSP00000378879:L65F	ENSP00000349595:L65F	L	+	1	0	ATP2A1	28798379	1.000000	0.71417	0.998000	0.56505	0.582000	0.36321	3.002000	0.49496	2.566000	0.86566	0.561000	0.74099	CTC	ATP2A1	-	pfam_ATPase_P-typ_cation-transptr_N,smart_ATPase_P-typ_cation-transptr_N,tigrfam_ATPase_P-typ_Ca-transp	ENSG00000196296		0.637	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	ATP2A1	HGNC	protein_coding	OTTHUMT00000254686.2	117	0.85	1	C	NM_004320		28890878	28890878	+1	no_errors	ENST00000357084	ensembl	human	known	69_37n	missense	57	28.75	23	SNP	1.000	T
ATP2B3	492	genome.wustl.edu	37	X	152825294	152825294	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:152825294G>A	ENST00000349466.2	+	17	3059	c.2733G>A	c.(2731-2733)cgG>cgA	p.R911R	ATP2B3_ENST00000370186.1_Silent_p.R897R|ATP2B3_ENST00000370181.2_Silent_p.R897R|ATP2B3_ENST00000393842.1_Silent_p.R897R|ATP2B3_ENST00000460549.1_3'UTR|ATP2B3_ENST00000359149.3_Silent_p.R911R|ATP2B3_ENST00000263519.4_Silent_p.R911R			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	911					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCTGCTGCGGAAGCCGTACG	0.597																																						dbGAP											0													74.0	62.0	66.0					X																	152825294		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.2733G>A	X.37:g.152825294G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7WNR8|B7WNY5|Q12995|Q16858	Silent	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.R911	ENST00000349466.2	37	c.2733	CCDS35440.1	X																																																																																			ATP2B3	-	pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Ca-transp_PMCA	ENSG00000067842		0.597	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2B3	HGNC	protein_coding	OTTHUMT00000060957.1	61	0.00	0	G	NM_021949		152825294	152825294	+1	no_errors	ENST00000263519	ensembl	human	known	69_37n	silent	42	30.00	18	SNP	0.943	A
ATP2B4	493	genome.wustl.edu	37	1	203668783	203668783	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:203668783G>C	ENST00000357681.5	+	4	1710	c.587G>C	c.(586-588)gGt>gCt	p.G196A	ATP2B4_ENST00000367218.3_Missense_Mutation_p.G196A|ATP2B4_ENST00000367219.3_Missense_Mutation_p.G196A|ATP2B4_ENST00000341360.2_Missense_Mutation_p.G196A|ATP2B4_ENST00000391954.2_Missense_Mutation_p.G196A	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	196					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			ATCCGAAACGGTCAACTCATC	0.498																																						dbGAP											0													192.0	176.0	181.0					1																	203668783		2203	4300	6503	-	-	-	SO:0001583	missense	0			M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.587G>C	1.37:g.203668783G>C	ENSP00000350310:p.Gly196Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.G196A	ENST00000357681.5	37	c.587	CCDS1440.1	1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.601165	0.87055	.	.	ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000391954;ENST00000341360	D;D;D;D;D	0.91011	-2.77;-2.77;-2.77;-2.77;-2.77	5.4	5.4	0.78164	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.127915	0.36002	N	0.002846	D	0.95746	0.8616	M	0.82433	2.59	0.80722	D	1	D;P;D	0.89917	1.0;0.924;1.0	D;P;D	0.91635	0.999;0.682;0.999	D	0.95932	0.8939	10	0.66056	D	0.02	-14.5423	18.7848	0.91949	0.0:0.0:1.0:0.0	.	196;196;196	P23634;P23634-6;B1APW5	AT2B4_HUMAN;.;.	A	196	ENSP00000350310:G196A;ENSP00000356187:G196A;ENSP00000356188:G196A;ENSP00000375816:G196A;ENSP00000340930:G196A	ENSP00000340930:G196A	G	+	2	0	ATP2B4	201935406	1.000000	0.71417	0.966000	0.40874	0.669000	0.39330	7.973000	0.88032	2.548000	0.85928	0.655000	0.94253	GGT	ATP2B4	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_ion-transptr	ENSG00000058668		0.498	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2B4	HGNC	protein_coding	OTTHUMT00000087462.1	85	0.00	0	G	NM_001001396		203668783	203668783	+1	no_errors	ENST00000357681	ensembl	human	known	69_37n	missense	96	28.89	39	SNP	1.000	C
ATP2B4	493	genome.wustl.edu	37	1	203669375	203669375	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:203669375G>A	ENST00000357681.5	+	5	1814	c.691G>A	c.(691-693)Gat>Aat	p.D231N	ATP2B4_ENST00000367218.3_Missense_Mutation_p.D231N|ATP2B4_ENST00000367219.3_Missense_Mutation_p.D231N|ATP2B4_ENST00000341360.2_Missense_Mutation_p.D231N|ATP2B4_ENST00000391954.2_Missense_Mutation_p.D231N	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	231					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CCAAGGGAATGATCTGAAGAT	0.517																																						dbGAP											0													115.0	110.0	112.0					1																	203669375		2203	4300	6503	-	-	-	SO:0001583	missense	0			M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.691G>A	1.37:g.203669375G>A	ENSP00000350310:p.Asp231Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.D231N	ENST00000357681.5	37	c.691	CCDS1440.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.105864	0.94292	.	.	ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000391954;ENST00000341360	D;D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36;-2.36	4.9	4.9	0.64082	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.52532	D	0.000073	D	0.90981	0.7164	L	0.41415	1.275	0.80722	D	1	D;P;P	0.57571	0.98;0.956;0.663	P;P;P	0.62298	0.9;0.763;0.622	D	0.89757	0.3944	10	0.33141	T	0.24	-23.2786	18.036	0.89302	0.0:0.0:1.0:0.0	.	231;231;231	P23634;P23634-6;B1APW5	AT2B4_HUMAN;.;.	N	231	ENSP00000350310:D231N;ENSP00000356187:D231N;ENSP00000356188:D231N;ENSP00000375816:D231N;ENSP00000340930:D231N	ENSP00000340930:D231N	D	+	1	0	ATP2B4	201935998	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	9.807000	0.99171	2.427000	0.82271	0.561000	0.74099	GAT	ATP2B4	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_ion-transptr	ENSG00000058668		0.517	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2B4	HGNC	protein_coding	OTTHUMT00000087462.1	81	0.00	0	G	NM_001001396		203669375	203669375	+1	no_errors	ENST00000357681	ensembl	human	known	69_37n	missense	107	13.71	17	SNP	1.000	A
ATP2B4	493	genome.wustl.edu	37	1	203671192	203671192	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:203671192G>A	ENST00000357681.5	+	7	2045	c.922G>A	c.(922-924)Gaa>Aaa	p.E308K	ATP2B4_ENST00000367218.3_Missense_Mutation_p.E308K|ATP2B4_ENST00000367219.3_Intron|ATP2B4_ENST00000341360.2_Missense_Mutation_p.E308K|ATP2B4_ENST00000391954.2_Missense_Mutation_p.E308K	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	308					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			AGGAGTCCCTGAAAATCGCAA	0.428											OREG0014124	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													132.0	128.0	130.0					1																	203671192		2203	4300	6503	-	-	-	SO:0001583	missense	0			M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.922G>A	1.37:g.203671192G>A	ENSP00000350310:p.Glu308Lys	Somatic	2138	WXS	Illumina GAIIx	Phase_IV	B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.E308K	ENST00000357681.5	37	c.922	CCDS1440.1	1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.124594	0.77436	.	.	ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000391954;ENST00000341360	D;D;D;D	0.92858	-3.12;-3.12;-3.1;-3.12	5.65	5.65	0.86999	ATPase, P-type, ATPase-associated domain (1);	.	.	.	.	D	0.93177	0.7827	L	0.41236	1.265	0.58432	D	0.999998	D;B;D	0.76494	0.999;0.035;0.969	D;B;P	0.81914	0.995;0.105;0.735	D	0.88871	0.3333	9	0.06757	T	0.87	-14.4987	18.4987	0.90874	0.0:0.0:1.0:0.0	.	308;308;308	P23634;P23634-6;B1APW5	AT2B4_HUMAN;.;.	K	308	ENSP00000350310:E308K;ENSP00000356187:E308K;ENSP00000375816:E308K;ENSP00000340930:E308K	ENSP00000340930:E308K	E	+	1	0	ATP2B4	201937815	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.019000	0.93662	2.673000	0.90976	0.557000	0.71058	GAA	ATP2B4	-	pfam_ATPase_P-typ_ATPase-assoc-dom	ENSG00000058668		0.428	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2B4	HGNC	protein_coding	OTTHUMT00000087462.1	170	0.00	0	G	NM_001001396		203671192	203671192	+1	no_errors	ENST00000357681	ensembl	human	known	69_37n	missense	170	30.33	74	SNP	1.000	A
ATP2C2	9914	genome.wustl.edu	37	16	84472794	84472794	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:84472794G>C	ENST00000262429.4	+	12	1098	c.1009G>C	c.(1009-1011)Gag>Cag	p.E337Q	ATP2C2_ENST00000416219.2_Missense_Mutation_p.E337Q|ATP2C2_ENST00000420010.2_3'UTR	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	337					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GGCCATTCCAGAGGGTCTGCC	0.557																																						dbGAP											0													69.0	76.0	74.0					16																	84472794		2074	4204	6278	-	-	-	SO:0001583	missense	0			AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"""ATPases / P-type"""	29103	protein-coding gene	gene with protein product	"""secretory pathway calcium ATPase 2"""	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.1009G>C	16.37:g.84472794G>C	ENSP00000262429:p.Glu337Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_ATPase_P-typ_ion-transptr	p.E337Q	ENST00000262429.4	37	c.1009	CCDS42207.1	16	.	.	.	.	.	.	.	.	.	.	G	16.40	3.111290	0.56398	.	.	ENSG00000064270	ENST00000416219;ENST00000262429;ENST00000420010	D;D	0.91792	-2.91;-2.91	4.89	3.93	0.45458	ATPase, P-type, ATPase-associated domain (1);	0.254983	0.30028	N	0.010595	D	0.96697	0.8922	M	0.93462	3.42	0.53005	D	0.999968	D;D;D;D	0.71674	0.998;0.998;0.998;0.998	D;D;D;D	0.76071	0.987;0.969;0.978;0.982	D	0.96947	0.9692	10	0.87932	D	0	.	12.2979	0.54859	0.0828:0.0:0.9172:0.0	.	337;186;354;337	E7ES94;F8WAA5;O75185-2;O75185	.;.;.;AT2C2_HUMAN	Q	337;337;186	ENSP00000397925:E337Q;ENSP00000262429:E337Q	ENSP00000262429:E337Q	E	+	1	0	ATP2C2	83030295	1.000000	0.71417	0.356000	0.25785	0.178000	0.23041	9.090000	0.94144	1.061000	0.40601	0.655000	0.94253	GAG	ATP2C2	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_ATPase_P-typ_ion-transptr	ENSG00000064270		0.557	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2C2	HGNC	protein_coding	OTTHUMT00000433404.1	83	0.00	0	G	NM_014861		84472794	84472794	+1	no_errors	ENST00000262429	ensembl	human	known	69_37n	missense	113	23.13	34	SNP	0.996	C
ATP2C2	9914	genome.wustl.edu	37	16	84492736	84492736	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:84492736G>C	ENST00000262429.4	+	22	2247	c.2158G>C	c.(2158-2160)Gag>Cag	p.E720Q	RP11-517C16.2_ENST00000565700.1_RNA|ATP2C2_ENST00000416219.2_Missense_Mutation_p.E720Q|ATP2C2_ENST00000420010.2_3'UTR	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	720					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GAATGCAGTGGAGGAAGGCAA	0.532																																						dbGAP											0													84.0	93.0	90.0					16																	84492736		2087	4239	6326	-	-	-	SO:0001583	missense	0			AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"""ATPases / P-type"""	29103	protein-coding gene	gene with protein product	"""secretory pathway calcium ATPase 2"""	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.2158G>C	16.37:g.84492736G>C	ENSP00000262429:p.Glu720Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_ATPase_P-typ_ion-transptr	p.E720Q	ENST00000262429.4	37	c.2158	CCDS42207.1	16	.	.	.	.	.	.	.	.	.	.	G	20.5	3.994993	0.74703	.	.	ENSG00000064270	ENST00000416219;ENST00000262429;ENST00000420010	D;D	0.97752	-4.52;-4.52	4.85	4.85	0.62838	ATPase, P-type,  transmembrane domain (1);	0.000000	0.64402	D	0.000001	D	0.98710	0.9567	M	0.83312	2.635	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.994;0.997;0.997;0.994	D	0.99809	1.1040	10	0.72032	D	0.01	.	17.2991	0.87177	0.0:0.0:1.0:0.0	.	720;569;737;720	E7ES94;F8WAA5;O75185-2;O75185	.;.;.;AT2C2_HUMAN	Q	720;720;569	ENSP00000397925:E720Q;ENSP00000262429:E720Q	ENSP00000262429:E720Q	E	+	1	0	ATP2C2	83050237	1.000000	0.71417	1.000000	0.80357	0.517000	0.34286	9.228000	0.95250	2.384000	0.81235	0.561000	0.74099	GAG	ATP2C2	-	prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_ATPase_P-typ_ion-transptr	ENSG00000064270		0.532	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2C2	HGNC	protein_coding	OTTHUMT00000433404.1	57	0.00	0	G	NM_014861		84492736	84492736	+1	no_errors	ENST00000262429	ensembl	human	known	69_37n	missense	62	15.07	11	SNP	1.000	C
ATP4A	495	genome.wustl.edu	37	19	36041913	36041913	+	Splice_Site	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:36041913G>A	ENST00000262623.3	-	20	3014	c.2986C>T	c.(2986-2988)Cgg>Tgg	p.R996W		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	996					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	GCCTCTCACCGAATGGGCATG	0.592																																						dbGAP											0													88.0	69.0	75.0					19																	36041913		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.2987+1C>T	19.37:g.36041913G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O00738	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATPase_P-typ_H/K-transp_N,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr	p.R996W	ENST00000262623.3	37	c.2986	CCDS12467.1	19	.	.	.	.	.	.	.	.	.	.	G	20.5	3.997464	0.74818	.	.	ENSG00000105675	ENST00000262623	D	0.88818	-2.43	4.9	4.9	0.64082	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.56097	D	0.000023	D	0.92848	0.7725	M	0.88377	2.95	0.53005	D	0.999969	P	0.47677	0.899	P	0.49332	0.607	D	0.94235	0.7480	10	0.87932	D	0	.	15.6081	0.76689	0.0:0.0:1.0:0.0	.	996	P20648	ATP4A_HUMAN	W	996	ENSP00000262623:R996W	ENSP00000262623:R996W	R	-	1	2	ATP4A	40733753	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	3.433000	0.52834	2.536000	0.85505	0.491000	0.48974	CGG	ATP4A	-	pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_cation-ex_asu_euk	ENSG00000105675		0.592	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP4A	HGNC	protein_coding	OTTHUMT00000109470.2	38	0.00	0	G	NM_000704	Missense_Mutation	36041913	36041913	-1	no_errors	ENST00000262623	ensembl	human	known	69_37n	missense	42	22.22	12	SNP	1.000	A
ATP4A	495	genome.wustl.edu	37	19	36054383	36054383	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:36054383C>T	ENST00000262623.3	-	2	87	c.59G>A	c.(58-60)gGg>gAg	p.G20E		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	20					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	AGCCATGTCCCCGCCAGGGCC	0.577																																						dbGAP											0													127.0	137.0	133.0					19																	36054383		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.59G>A	19.37:g.36054383C>T	ENSP00000262623:p.Gly20Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	O00738	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATPase_P-typ_H/K-transp_N,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr	p.G20E	ENST00000262623.3	37	c.59	CCDS12467.1	19	.	.	.	.	.	.	.	.	.	.	C	2.562	-0.301677	0.05495	.	.	ENSG00000105675	ENST00000262623	D	0.92911	-3.13	4.39	4.39	0.52855	ATPase, P-type, gastric H+/K+-transporter, N-terminal (1);	0.210921	0.29424	N	0.012190	T	0.78381	0.4274	N	0.08118	0	0.29393	N	0.86251	B	0.12013	0.005	B	0.10450	0.005	T	0.65212	-0.6223	10	0.02654	T	1	.	8.2009	0.31424	0.0:0.8925:0.0:0.1075	.	20	P20648	ATP4A_HUMAN	E	20	ENSP00000262623:G20E	ENSP00000262623:G20E	G	-	2	0	ATP4A	40746223	0.981000	0.34729	1.000000	0.80357	0.205000	0.24178	2.199000	0.42715	2.294000	0.77228	0.644000	0.83932	GGG	ATP4A	-	pfam_ATPase_P-typ_H/K-transp_N	ENSG00000105675		0.577	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP4A	HGNC	protein_coding	OTTHUMT00000109470.2	142	0.00	0	C	NM_000704		36054383	36054383	-1	no_errors	ENST00000262623	ensembl	human	known	69_37n	missense	96	30.94	43	SNP	0.997	T
ATP6V0A4	50617	genome.wustl.edu	37	7	138430011	138430011	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:138430011G>A	ENST00000310018.2	-	14	1617	c.1335C>T	c.(1333-1335)ttC>ttT	p.F445F	ATP6V0A4_ENST00000353492.4_Silent_p.F445F|ATP6V0A4_ENST00000393054.1_Silent_p.F445F	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	445					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GCCCGTGGAAGAAGGTGTTCC	0.498																																						dbGAP											0													147.0	137.0	140.0					7																	138430011		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"""ATPases / V-type"""	866	protein-coding gene	gene with protein product		605239	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 4"", ""ATPase, H+ transporting, lysosomal V0 subunit A4"""	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.1335C>T	7.37:g.138430011G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1R4|A8KA80|Q32M47	Silent	SNP	pfam_ATPase_V0/A0_a	p.F445	ENST00000310018.2	37	c.1335	CCDS5849.1	7																																																																																			ATP6V0A4	-	pfam_ATPase_V0/A0_a	ENSG00000105929		0.498	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V0A4	HGNC	protein_coding	OTTHUMT00000347514.1	96	0.00	0	G	NM_020632		138430011	138430011	-1	no_errors	ENST00000310018	ensembl	human	known	69_37n	silent	92	22.03	26	SNP	1.000	A
ATP6V0C	527	genome.wustl.edu	37	16	2569734	2569734	+	Silent	SNP	C	C	G	rs140569199		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:2569734C>G	ENST00000330398.4	+	3	690	c.456C>G	c.(454-456)ctC>ctG	p.L152L	AMDHD2_ENST00000302956.4_5'Flank|ATP6V0C_ENST00000565223.1_Silent_p.L109L|AMDHD2_ENST00000293971.6_5'Flank|AMDHD2_ENST00000413459.3_5'Flank|RP11-20I23.1_ENST00000564543.1_3'UTR|ATP6V0C_ENST00000564973.1_Silent_p.L109L|ATP6C_ENST00000569317.1_Intron	NM_001198569.1|NM_001694.3	NP_001185498.1|NP_001685.1	P27449	VATL_HUMAN	ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c	152					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of Wnt signaling pathway (GO:0030177)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)	proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|lung(1)|ovary(1)	3		Ovarian(90;0.17)				CCCTCATCCTCTCCACAAAGT	0.582																																						dbGAP											0													60.0	59.0	60.0					16																	2569734		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			M62762	CCDS10470.1	16p13.3	2010-04-21	2002-08-29	2002-05-10	ENSG00000185883	ENSG00000185883	3.6.3.14	"""ATPases / V-type"""	855	protein-coding gene	gene with protein product		108745	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) 16kD"""	ATPL, ATP6C, ATP6L		1709739, 8250920	Standard	NM_001694		Approved	VATL, Vma3	uc021tav.1	P27449	OTTHUMG00000128865	ENST00000330398.4:c.456C>G	16.37:g.2569734C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6FH26	Silent	SNP	pfam_ATPase_F0/V0-cplx_csu,superfamily_ATPase_F0/V0-cplx_csu,prints_ATPase_V0-cplx_csu,tigrfam_ATPase_V0-cplx_csu_euk	p.L152	ENST00000330398.4	37	c.456	CCDS10470.1	16																																																																																			ATP6V0C	-	pfam_ATPase_F0/V0-cplx_csu,superfamily_ATPase_F0/V0-cplx_csu,prints_ATPase_V0-cplx_csu	ENSG00000185883		0.582	ATP6V0C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V0C	HGNC	protein_coding	OTTHUMT00000250810.1	50	0.00	0	C	NM_001694		2569734	2569734	+1	no_errors	ENST00000330398	ensembl	human	known	69_37n	silent	43	18.87	10	SNP	0.983	G
ATP6V0E2	155066	genome.wustl.edu	37	7	149576677	149576677	+	3'UTR	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:149576677C>G	ENST00000425642.2	+	0	542				ATP6V0E2_ENST00000606024.1_Missense_Mutation_p.L136V|ATP6V0E2-AS1_ENST00000464939.1_RNA|ATP6V0E2_ENST00000421974.2_Missense_Mutation_p.L185V|ATP6V0E2_ENST00000456496.2_3'UTR|RP11-445N20.3_ENST00000608912.1_lincRNA|ATP6V0E2_ENST00000479613.1_Missense_Mutation_p.L159V			Q8NHE4	VA0E2_HUMAN	ATPase, H+ transporting V0 subunit e2						ATP hydrolysis coupled proton transport (GO:0015991)|cell growth (GO:0016049)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)	ATPase activity, coupled to transmembrane movement of ions (GO:0042625)|hydrogen ion transmembrane transporter activity (GO:0015078)			lung(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.00256)			AGTTTGCCCTCTTTCCCAAGG	0.642																																						dbGAP											0													59.0	67.0	64.0					7																	149576677		1999	4166	6165	-	-	-	SO:0001624	3_prime_UTR_variant	0			AK057700	CCDS47742.1, CCDS55181.1	7q36.1	2010-04-21	2006-10-12	2006-10-12	ENSG00000171130	ENSG00000171130		"""ATPases / V-type"""	21723	protein-coding gene	gene with protein product		611019	"""chromosome 7 open reading frame 32"", ""ATPase, H+ transporting V0 subunit E isoform 2-like (rat)"""	C7orf32, ATP6V0E2L			Standard	XM_005249958		Approved		uc003wgs.3	Q8NHE4	OTTHUMG00000158094	ENST00000425642.2:c.*273C>G	7.37:g.149576677C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A2T863|A2T8L7|B5MDP5|J3KQW7|Q6MZW1|Q75L47|Q7Z4R7|Q8N7I8	Missense_Mutation	SNP	pfam_ATPase_V0-cplx_esu	p.L185V	ENST00000425642.2	37	c.553		7	.	.	.	.	.	.	.	.	.	.	.	11.83	1.755458	0.31046	.	.	ENSG00000171130	ENST00000421974;ENST00000425642;ENST00000479613	.	.	.	2.5	0.834	0.18880	.	.	.	.	.	T	0.12178	0.0296	N	0.08118	0	0.09310	N	1	B;B	0.34061	0.436;0.187	B;B	0.23574	0.036;0.047	T	0.16600	-1.0397	8	0.87932	D	0	-11.3281	4.292	0.10883	0.0:0.6818:0.0:0.3182	.	185;159	E9PAS2;Q8NHE4-3	.;.	V	185;136;159	.	ENSP00000411672:L185V	L	+	1	0	ATP6V0E2	149207610	0.023000	0.18921	0.003000	0.11579	0.008000	0.06430	-0.001000	0.12947	0.228000	0.21019	0.467000	0.42956	CTT	ATP6V0E2	-	NULL	ENSG00000171130		0.642	ATP6V0E2-010	KNOWN	basic|appris_principal	protein_coding	ATP6V0E2	HGNC	protein_coding	OTTHUMT00000470874.1	82	0.00	0	C	NM_145230		149576677	149576677	+1	no_errors	ENST00000421974	ensembl	human	known	69_37n	missense	45	41.56	32	SNP	0.003	G
ATP6V1A	523	genome.wustl.edu	37	3	113503119	113503119	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:113503119C>T	ENST00000273398.3	+	4	368	c.260C>T	c.(259-261)tCt>tTt	p.S87F	ATP6V1A_ENST00000538620.1_Missense_Mutation_p.S54F	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	87					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	ATP binding (GO:0005524)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Alendronate(DB00630)|Etidronic acid(DB01077)|Tiludronate(DB01133)	AAACCCCTCTCTGTAGAGCTT	0.443																																						dbGAP											0													129.0	120.0	123.0					3																	113503119		2203	4300	6503	-	-	-	SO:0001583	missense	0			L09235	CCDS2976.1	3q13.31	2010-04-21	2002-08-29	2003-04-25	ENSG00000114573	ENSG00000114573	3.6.3.14	"""ATPases / V-type"""	851	protein-coding gene	gene with protein product		607027	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), alpha polypeptide, 70kD, isoform 1"""	VPP2, ATP6A1, ATP6V1A1		8463241	Standard	NM_001690		Approved	Vma1, VA68	uc003eao.3	P38606	OTTHUMG00000159295	ENST00000273398.3:c.260C>T	3.37:g.113503119C>T	ENSP00000273398:p.Ser87Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBR8|B7Z1R5|D3DN75|Q53YD9|Q96DY6|Q9UHY3	Missense_Mutation	SNP	pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1/V1/A1-cplx_a/bsu_N,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,superfamily_ATPase_F1/A1-cplx_a/bsu_N,tigrfam_ATPase_V1-cplx_asu	p.S87F	ENST00000273398.3	37	c.260	CCDS2976.1	3	.	.	.	.	.	.	.	.	.	.	C	26.2	4.710940	0.89112	.	.	ENSG00000114573	ENST00000273398;ENST00000538620;ENST00000496747;ENST00000475322	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	6.08	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.79493	0.4455	H	0.97962	4.115	0.80722	D	1	D	0.69078	0.997	D	0.66979	0.948	D	0.86487	0.1795	10	0.87932	D	0	-10.1005	15.8169	0.78608	0.0:0.9341:0.0:0.0659	.	87	P38606	VATA_HUMAN	F	87;54;54;87	ENSP00000273398:S87F;ENSP00000439874:S54F;ENSP00000417545:S54F;ENSP00000419294:S87F	ENSP00000273398:S87F	S	+	2	0	ATP6V1A	114985809	1.000000	0.71417	0.945000	0.38365	0.993000	0.82548	5.580000	0.67464	2.894000	0.99253	0.591000	0.81541	TCT	ATP6V1A	-	tigrfam_ATPase_V1-cplx_asu	ENSG00000114573		0.443	ATP6V1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V1A	HGNC	protein_coding	OTTHUMT00000354457.1	105	0.00	0	C	NM_001690		113503119	113503119	+1	no_errors	ENST00000273398	ensembl	human	known	69_37n	missense	100	32.43	48	SNP	0.999	T
ATP6V1B1	525	genome.wustl.edu	37	2	71170756	71170756	+	Intron	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:71170756G>A	ENST00000234396.4	+	2	191				AC007040.11_ENST00000606025.1_Intron|ATP6V1B1_ENST00000412314.1_Intron|AC007040.7_ENST00000447639.1_RNA|AC007040.7_ENST00000422761.1_RNA	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1						ATP hydrolysis coupled proton transport (GO:0015991)|ATP metabolic process (GO:0046034)|calcium ion homeostasis (GO:0055074)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|pH reduction (GO:0045851)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances (GO:0016820)			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						TGTTTGGGGTGAGACCCCTAC	0.632																																						dbGAP											0													56.0	55.0	56.0					2																	71170756		2203	4299	6502	-	-	-	SO:0001627	intron_variant	0			AF107466	CCDS1912.1	2p13	2010-04-21	2008-07-31	2002-05-10	ENSG00000116039	ENSG00000116039	3.6.3.14	"""ATPases / V-type"""	853	protein-coding gene	gene with protein product	"""Renal tubular acidosis with deafness"""	192132	"""vacuolar proton pump 3"""	VPP3, ATP6B1		9916796, 2527371	Standard	XM_005264368		Approved	VATB, RTA1B, Vma2	uc002shj.3	P15313	OTTHUMG00000129711	ENST00000234396.4:c.119-32G>A	2.37:g.71170756G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53FY0|Q6P4H6	Silent	SNP	pfam_ATPase_F1/V1/A1-cplx_a/bsu_N,pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,superfamily_ATPase_F1/A1-cplx_a/bsu_N	p.V46	ENST00000234396.4	37	c.138	CCDS1912.1	2																																																																																			ATP6V1B1	-	NULL	ENSG00000116039		0.632	ATP6V1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V1B1	HGNC	protein_coding	OTTHUMT00000251920.2	26	0.00	0	G	NM_001692		71170756	71170756	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000454446	ensembl	human	novel	69_37n	silent	14	39.13	9	SNP	0.945	A
ATP6V1C1	528	genome.wustl.edu	37	8	104053071	104053071	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:104053071G>A	ENST00000395862.3	+	2	166	c.7G>A	c.(7-9)Gag>Aag	p.E3K	ATP6V1C1_ENST00000521514.1_Intron|ATP6V1C1_ENST00000518857.1_Intron|ATP6V1C1_ENST00000518738.1_Missense_Mutation_p.E3K	NM_001695.4	NP_001686.1	P21283	VATC1_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1	3					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Lung NSC(17;0.000427)|all_lung(17;0.000533)		OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)			AAACATGACTGAGTTCTGGCT	0.343																																						dbGAP											0													96.0	96.0	96.0					8																	104053071		2203	4300	6503	-	-	-	SO:0001583	missense	0			X69151	CCDS6296.1	8p22.3	2011-05-24	2006-01-13	2002-05-10	ENSG00000155097	ENSG00000155097	3.6.3.14	"""ATPases / V-type"""	856	protein-coding gene	gene with protein product		603097	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) 42kD"", ""ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C, isoform 1"""	ATP6D, ATP6C		8250920, 14580332	Standard	NM_001695		Approved	VATC, Vma5	uc003ykz.4	P21283	OTTHUMG00000164761	ENST00000395862.3:c.7G>A	8.37:g.104053071G>A	ENSP00000379203:p.Glu3Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_ATPase_V1-cplx_csu	p.E3K	ENST00000395862.3	37	c.7	CCDS6296.1	8	.	.	.	.	.	.	.	.	.	.	G	36	5.675031	0.96764	.	.	ENSG00000155097	ENST00000395862;ENST00000518738	T;T	0.42513	0.97;0.97	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.69735	0.3144	M	0.86953	2.85	0.80722	D	1	D	0.69078	0.997	D	0.70227	0.968	T	0.67639	-0.5619	10	0.31617	T	0.26	.	19.8914	0.96931	0.0:0.0:1.0:0.0	.	3	P21283	VATC1_HUMAN	K	3	ENSP00000379203:E3K;ENSP00000430282:E3K	ENSP00000379203:E3K	E	+	1	0	ATP6V1C1	104122247	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.048000	0.93830	2.813000	0.96785	0.655000	0.94253	GAG	ATP6V1C1	-	NULL	ENSG00000155097		0.343	ATP6V1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V1C1	HGNC	protein_coding	OTTHUMT00000380101.1	92	0.00	0	G	NM_001695		104053071	104053071	+1	no_errors	ENST00000395862	ensembl	human	known	69_37n	missense	42	58.00	58	SNP	1.000	A
ATP7B	540	genome.wustl.edu	37	13	52523911	52523911	+	Missense_Mutation	SNP	C	C	T	rs540935874		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr13:52523911C>T	ENST00000242839.4	-	12	2908	c.2752G>A	c.(2752-2754)Gac>Aac	p.D918N	ATP7B_ENST00000417240.2_Missense_Mutation_p.D190N|ATP7B_ENST00000482841.1_Intron|ATP7B_ENST00000448424.2_Missense_Mutation_p.D840N|ATP7B_ENST00000344297.5_Intron|ATP7B_ENST00000400366.3_Missense_Mutation_p.D807N|ATP7B_ENST00000400370.3_Missense_Mutation_p.D488N|ATP7B_ENST00000418097.2_Missense_Mutation_p.D918N	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	918			D -> E (in WD). {ECO:0000269|PubMed:15967699}.|D -> N (in WD). {ECO:0000269|PubMed:9671269}.		cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	CTAAACCGGTCAGCCAGCTGC	0.383									Wilson disease																													dbGAP											0			GRCh37	CM980174	ATP7B	M							122.0	115.0	117.0					13																	52523911		1879	4119	5998	-	-	-	SO:0001583	missense	0	Familial Cancer Database		U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.2752G>A	13.37:g.52523911C>T	ENSP00000242839:p.Asp918Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Missense_Mutation	SNP	pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_ATPase_P-typ_cat/Cu-transptr,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_heavy-metal,tigrfam_ATPase_P-typ_ion-transptr,tigrfam_HMA_Cu_ion-bd	p.D918N	ENST00000242839.4	37	c.2752	CCDS41892.1	13	.	.	.	.	.	.	.	.	.	.	C	28.0	4.880680	0.91740	.	.	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000417240;ENST00000448424;ENST00000400370;ENST00000418097	D;D;D;D;D;D	0.91351	-2.83;-2.83;-2.83;-2.83;-2.83;-2.83	6.06	6.06	0.98353	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.96147	0.8744	M	0.84773	2.715	0.80722	D	1	D;D;D;D;P;B;D	0.89917	0.998;0.997;1.0;1.0;0.82;0.103;1.0	D;D;D;D;P;B;D	0.97110	0.995;0.994;1.0;1.0;0.526;0.024;1.0	D	0.95827	0.8855	10	0.87932	D	0	-39.9192	20.6282	0.99521	0.0:1.0:0.0:0.0	.	840;870;918;190;488;807;918	E7ET55;B7ZLR4;F5H748;E7EQQ2;F5H562;P35670-3;P35670	.;.;.;.;.;.;ATP7B_HUMAN	N	918;807;190;840;488;918	ENSP00000242839:D918N;ENSP00000383217:D807N;ENSP00000390360:D190N;ENSP00000416738:D840N;ENSP00000383221:D488N;ENSP00000393343:D918N	ENSP00000242839:D918N	D	-	1	0	ATP7B	51421912	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.767000	0.85331	2.871000	0.98454	0.655000	0.94253	GAC	ATP7B	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_heavy-metal,tigrfam_ATPase_P-typ_ion-transptr	ENSG00000123191		0.383	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP7B	HGNC	protein_coding	OTTHUMT00000045981.1	62	0.00	0	C	NM_000053		52523911	52523911	-1	no_errors	ENST00000242839	ensembl	human	known	69_37n	missense	52	27.78	20	SNP	1.000	T
ATP8A1	10396	genome.wustl.edu	37	4	42590347	42590347	+	Splice_Site	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:42590347C>G	ENST00000381668.5	-	8	756		c.e8-1		ATP8A1_ENST00000264449.10_Splice_Site	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1						cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TTGGGGCTCACTGTAGTTTGG	0.358																																						dbGAP											0													133.0	124.0	127.0					4																	42590347		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.525-1G>C	4.37:g.42590347C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q32M35|Q32M36|Q4W5J7|Q4W5P2	Splice_Site	SNP	-	e8-1	ENST00000381668.5	37	c.525-1	CCDS3466.1	4	.	.	.	.	.	.	.	.	.	.	C	14.26	2.481823	0.44147	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9297	0.92560	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATP8A1	42285104	1.000000	0.71417	1.000000	0.80357	0.378000	0.30076	7.771000	0.85420	2.549000	0.85964	0.650000	0.86243	.	ATP8A1	-	-	ENSG00000124406		0.358	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP8A1	HGNC	protein_coding	OTTHUMT00000216861.2	133	0.00	0	C	NM_006095	Intron	42590347	42590347	-1	no_errors	ENST00000381668	ensembl	human	known	69_37n	splice_site	99	22.05	28	SNP	1.000	G
ATP9A	10079	genome.wustl.edu	37	20	50221405	50221405	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:50221405G>C	ENST00000338821.5	-	27	3222	c.2958C>G	c.(2956-2958)ctC>ctG	p.L986L	ATP9A_ENST00000402822.1_Silent_p.L865L|ATP9A_ENST00000311637.5_Silent_p.L850L	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	986					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						AGGCCAGGCTGAGCAGCTCCG	0.597																																						dbGAP											0													57.0	44.0	48.0					20																	50221405		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.2958C>G	20.37:g.50221405G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Silent	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.L986	ENST00000338821.5	37	c.2958	CCDS33489.1	20																																																																																			ATP9A	-	tigrfam_ATPase_P-typ_Plipid-transl	ENSG00000054793		0.597	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP9A	HGNC	protein_coding	OTTHUMT00000106494.1	31	0.00	0	G	NM_006045		50221405	50221405	-1	no_errors	ENST00000338821	ensembl	human	known	69_37n	silent	33	15.38	6	SNP	1.000	C
ATRIP	84126	genome.wustl.edu	37	3	48493235	48493235	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:48493235G>A	ENST00000320211.3	+	3	595	c.482G>A	c.(481-483)aGa>aAa	p.R161K	ATRIP_ENST00000412052.1_Missense_Mutation_p.R68K|ATRIP_ENST00000357105.6_Missense_Mutation_p.R34K|ATRIP_ENST00000346691.4_Missense_Mutation_p.R161K	NM_130384.2	NP_569055.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	161					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)		GAACAGAGAAGATCACATTTT	0.393								Other conserved DNA damage response genes																														dbGAP											0													137.0	131.0	133.0					3																	48493235		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.482G>A	3.37:g.48493235G>A	ENSP00000323099:p.Arg161Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6A3|A8K714|B2RCE7|B4DU92|B5MEB7|Q69YK9|Q8NHQ2|Q8WUG7|Q96CL3|Q9HA30	Missense_Mutation	SNP	NULL	p.R161K	ENST00000320211.3	37	c.482	CCDS2768.1	3	.	.	.	.	.	.	.	.	.	.	G	16.10	3.027000	0.54683	.	.	ENSG00000164053	ENST00000421175;ENST00000320211;ENST00000346691;ENST00000357105;ENST00000412052	T;T;T;T;T	0.80653	-1.4;1.48;1.47;0.91;1.5	5.83	4.95	0.65309	.	0.290535	0.42420	D	0.000714	D	0.82742	0.5103	L	0.47716	1.5	0.28484	N	0.914797	D;D	0.67145	0.996;0.996	D;D	0.76071	0.987;0.987	T	0.73557	-0.3945	10	0.18276	T	0.48	-16.9103	7.541	0.27737	0.083:0.0:0.7525:0.1645	.	161;161	Q8WXE1-2;Q8WXE1	.;ATRIP_HUMAN	K	68;161;161;34;68	ENSP00000406664:R68K;ENSP00000323099:R161K;ENSP00000302338:R161K;ENSP00000349620:R34K;ENSP00000400930:R68K	ENSP00000323099:R161K	R	+	2	0	ATRIP	48468239	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.710000	0.37920	1.461000	0.47929	0.655000	0.94253	AGA	ATRIP	-	NULL	ENSG00000164053		0.393	ATRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATRIP	HGNC	protein_coding	OTTHUMT00000257507.2	85	0.00	0	G	NM_130384		48493235	48493235	+1	no_errors	ENST00000320211	ensembl	human	known	69_37n	missense	70	22.83	21	SNP	1.000	A
ATRIP	84126	genome.wustl.edu	37	3	48501607	48501607	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:48501607G>C	ENST00000320211.3	+	8	1267	c.1154G>C	c.(1153-1155)gGa>gCa	p.G385A	ATRIP_ENST00000412052.1_Missense_Mutation_p.G292A|ATRIP_ENST00000357105.6_Missense_Mutation_p.G258A|ATRIP_ENST00000346691.4_Missense_Mutation_p.G385A	NM_130384.2	NP_569055.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	385					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)		GCATTCACTGGACTGAATCTG	0.562								Other conserved DNA damage response genes																														dbGAP											0													84.0	81.0	82.0					3																	48501607		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.1154G>C	3.37:g.48501607G>C	ENSP00000323099:p.Gly385Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6A3|A8K714|B2RCE7|B4DU92|B5MEB7|Q69YK9|Q8NHQ2|Q8WUG7|Q96CL3|Q9HA30	Missense_Mutation	SNP	NULL	p.G385A	ENST00000320211.3	37	c.1154	CCDS2768.1	3	.	.	.	.	.	.	.	.	.	.	G	18.87	3.715753	0.68844	.	.	ENSG00000164053	ENST00000320211;ENST00000346691;ENST00000357105;ENST00000412052	T;T;T;T	0.63096	0.47;0.38;-0.02;0.52	5.85	5.85	0.93711	.	0.050926	0.85682	D	0.000000	T	0.75072	0.3800	L	0.50333	1.59	0.54753	D	0.999985	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.72043	-0.4409	9	.	.	.	-19.8131	17.6515	0.88165	0.0:0.0:1.0:0.0	.	385;385	Q8WXE1-2;Q8WXE1	.;ATRIP_HUMAN	A	385;385;258;292	ENSP00000323099:G385A;ENSP00000302338:G385A;ENSP00000349620:G258A;ENSP00000400930:G292A	.	G	+	2	0	ATRIP	48476611	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	6.778000	0.75043	2.767000	0.95098	0.655000	0.94253	GGA	ATRIP	-	NULL	ENSG00000164053		0.562	ATRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATRIP	HGNC	protein_coding	OTTHUMT00000257507.2	37	0.00	0	G	NM_130384		48501607	48501607	+1	no_errors	ENST00000320211	ensembl	human	known	69_37n	missense	51	12.07	7	SNP	1.000	C
ATR	545	genome.wustl.edu	37	3	142274814	142274814	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:142274814G>C	ENST00000350721.4	-	10	2367	c.2246C>G	c.(2245-2247)tCt>tGt	p.S749C	ATR_ENST00000383101.3_Missense_Mutation_p.S685C	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	749					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)			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						TTCATGTTGAGAAGTGGCTTT	0.393								Other conserved DNA damage response genes																														dbGAP											0													136.0	136.0	136.0					3																	142274814		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.2246C>G	3.37:g.142274814G>C	ENSP00000343741:p.Ser749Cys	Somatic		WXS	Illumina GAIIx	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.S749C	ENST00000350721.4	37	c.2246	CCDS3124.1	3	.	.	.	.	.	.	.	.	.	.	G	14.10	2.435664	0.43224	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.66995	-0.24;-0.24	5.34	4.45	0.53987	Armadillo-type fold (1);	0.603304	0.16710	N	0.202709	T	0.54382	0.1855	L	0.27053	0.805	0.39152	D	0.962238	B	0.06786	0.001	B	0.06405	0.002	T	0.54866	-0.8229	10	0.51188	T	0.08	-17.5174	13.7745	0.63046	0.0743:0.0:0.9257:0.0	.	749	Q13535	ATR_HUMAN	C	749;685	ENSP00000343741:S749C;ENSP00000372581:S685C	ENSP00000343741:S749C	S	-	2	0	ATR	143757504	1.000000	0.71417	0.832000	0.32986	0.977000	0.68977	2.542000	0.45744	2.651000	0.90000	0.585000	0.79938	TCT	ATR	-	superfamily_ARM-type_fold	ENSG00000175054		0.393	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATR	HGNC	protein_coding	OTTHUMT00000353995.2	104	0.00	0	G	NM_001184		142274814	142274814	-1	no_errors	ENST00000350721	ensembl	human	known	69_37n	missense	108	16.28	21	SNP	0.880	C
ATRN	8455	genome.wustl.edu	37	20	3619547	3619547	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:3619547G>C	ENST00000262919.5	+	27	4083	c.4015G>C	c.(4015-4017)Gag>Cag	p.E1339Q		NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	1339					cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						GGAAACAGATGAGGAGCCTCC	0.438																																						dbGAP											0													77.0	70.0	73.0					20																	3619547		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"""mahogany protein"""	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.4015G>C	20.37:g.3619547G>C	ENSP00000262919:p.Glu1339Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Missense_Mutation	SNP	pfam_Kelch_1,pfam_Plexin_repeat,pfam_CUB,superfamily_C-type_lectin_fold,superfamily_CUB,superfamily_Plexin-like_fold,smart_EGF-like,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.E1339Q	ENST00000262919.5	37	c.4015	CCDS13053.1	20	.	.	.	.	.	.	.	.	.	.	G	15.50	2.851829	0.51270	.	.	ENSG00000088812	ENST00000262919	T	0.50277	0.75	5.09	5.09	0.68999	.	0.058457	0.64402	D	0.000002	T	0.32763	0.0840	N	0.17082	0.46	0.80722	D	1	B	0.15473	0.013	B	0.13407	0.009	T	0.08391	-1.0724	10	0.21014	T	0.42	-16.8117	16.0325	0.80588	0.0:0.0:1.0:0.0	.	1339	O75882	ATRN_HUMAN	Q	1339	ENSP00000262919:E1339Q	ENSP00000262919:E1339Q	E	+	1	0	ATRN	3567547	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.117000	0.94347	2.638000	0.89438	0.650000	0.86243	GAG	ATRN	-	NULL	ENSG00000088812		0.438	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRN	HGNC	protein_coding	OTTHUMT00000077740.2	150	0.00	0	G	NM_139321		3619547	3619547	+1	no_errors	ENST00000262919	ensembl	human	known	69_37n	missense	136	13.92	22	SNP	1.000	C
ATRX	546	genome.wustl.edu	37	X	76931791	76931791	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:76931791C>G	ENST00000373344.5	-	10	3953	c.3739G>C	c.(3739-3741)Gat>Cat	p.D1247H	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.D1209H	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1247	Interaction with DAXX.				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						AAGGCTTCATCTCCTTGAGGG	0.318			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															dbGAP		Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)											114.0	91.0	99.0					X																	76931791		2203	4296	6499	-	-	-	SO:0001583	missense	0			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.3739G>C	X.37:g.76931791C>G	ENSP00000362441:p.Asp1247His	Somatic		WXS	Illumina GAIIx	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.D1247H	ENST00000373344.5	37	c.3739	CCDS14434.1	X	.	.	.	.	.	.	.	.	.	.	C	14.88	2.667071	0.47677	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.94687	-3.49;-3.48	4.57	3.71	0.42584	.	0.000000	0.64402	D	0.000006	D	0.95636	0.8581	M	0.61703	1.905	0.80722	D	1	D;D;P	0.71674	0.998;0.995;0.93	P;P;P	0.61592	0.891;0.874;0.533	D	0.95100	0.8229	10	0.66056	D	0.02	-12.6517	12.1928	0.54280	0.0:0.9134:0.0:0.0866	.	1179;1209;1247	P46100-6;P46100-4;P46100	.;.;ATRX_HUMAN	H	1247;1209;1174	ENSP00000362441:D1247H;ENSP00000378967:D1209H	ENSP00000362441:D1247H	D	-	1	0	ATRX	76818447	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.091000	0.76923	0.838000	0.34948	0.506000	0.49869	GAT	ATRX	-	NULL	ENSG00000085224		0.318	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	HGNC	protein_coding	OTTHUMT00000058860.2	130	0.00	0	C	NM_000489		76931791	76931791	-1	no_errors	ENST00000373344	ensembl	human	known	69_37n	missense	86	29.51	36	SNP	1.000	G
ATRX	546	genome.wustl.edu	37	X	76938482	76938482	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:76938482C>T	ENST00000373344.5	-	9	2480	c.2266G>A	c.(2266-2268)Gaa>Aaa	p.E756K	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.E718K	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	756					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						GTATGAATTTCATTAATATCA	0.368			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															dbGAP		Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)											124.0	124.0	124.0					X																	76938482		2203	4296	6499	-	-	-	SO:0001583	missense	0			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.2266G>A	X.37:g.76938482C>T	ENSP00000362441:p.Glu756Lys	Somatic		WXS	Illumina GAIIx	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.E756K	ENST00000373344.5	37	c.2266	CCDS14434.1	X	.	.	.	.	.	.	.	.	.	.	C	10.99	1.508252	0.27036	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.93426	-3.21;-3.22	5.95	5.95	0.96441	.	0.368540	0.27886	N	0.017460	D	0.94860	0.8339	L	0.55481	1.735	0.80722	D	1	D;D;P;D	0.69078	0.997;0.99;0.948;0.997	D;P;P;D	0.73380	0.98;0.843;0.562;0.98	D	0.92866	0.6310	10	0.23891	T	0.37	-7.1234	12.6213	0.56605	0.0:0.9229:0.0:0.0771	.	756;688;718;756	A4LAA3;P46100-6;P46100-4;P46100	.;.;.;ATRX_HUMAN	K	756;718;683	ENSP00000362441:E756K;ENSP00000378967:E718K	ENSP00000362441:E756K	E	-	1	0	ATRX	76825138	1.000000	0.71417	0.995000	0.50966	0.560000	0.35617	3.791000	0.55469	2.501000	0.84356	0.513000	0.50165	GAA	ATRX	-	NULL	ENSG00000085224		0.368	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	HGNC	protein_coding	OTTHUMT00000058860.2	146	0.00	0	C	NM_000489		76938482	76938482	-1	no_errors	ENST00000373344	ensembl	human	known	69_37n	missense	88	25.42	30	SNP	1.000	T
ATRX	546	genome.wustl.edu	37	X	76938534	76938534	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:76938534G>C	ENST00000373344.5	-	9	2428	c.2214C>G	c.(2212-2214)ctC>ctG	p.L738L	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Silent_p.L700L	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	738					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.I737fs*3(1)|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						TCACCTCTTTGAGGATTGCTA	0.358			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															dbGAP		Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	2	Unknown(1)|Deletion - Frameshift(1)	central_nervous_system(1)|bone(1)											140.0	137.0	138.0					X																	76938534		2203	4296	6499	-	-	-	SO:0001819	synonymous_variant	0			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.2214C>G	X.37:g.76938534G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Silent	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.L738	ENST00000373344.5	37	c.2214	CCDS14434.1	X																																																																																			ATRX	-	NULL	ENSG00000085224		0.358	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	HGNC	protein_coding	OTTHUMT00000058860.2	132	0.00	0	G	NM_000489		76938534	76938534	-1	no_errors	ENST00000373344	ensembl	human	known	69_37n	silent	84	22.22	24	SNP	0.558	C
ATXN2	6311	genome.wustl.edu	37	12	111923576	111923576	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:111923576G>A	ENST00000377617.3	-	17	3039	c.2878C>T	c.(2878-2880)Cag>Tag	p.Q960*	ATXN2_ENST00000542287.2_Nonsense_Mutation_p.Q695*|ATXN2_ENST00000608853.1_Nonsense_Mutation_p.Q800*|ATXN2_ENST00000389153.4_Nonsense_Mutation_p.Q695*|AC002395.1_ENST00000581907.1_RNA|ATXN2_ENST00000550104.1_Nonsense_Mutation_p.Q960*|ATXN2_ENST00000535949.1_Nonsense_Mutation_p.Q671*	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	960	Pro-rich.				cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						CAAACAGGCTGAGTATAAACT	0.473																																						dbGAP											0													189.0	168.0	175.0					12																	111923576		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"""Ataxins"""	10555	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 13"""	601517	"""spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"""	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.2878C>T	12.37:g.111923576G>A	ENSP00000366843:p.Gln960*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLD4|Q6ZQZ7|Q99493	Nonsense_Mutation	SNP	pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom	p.Q960*	ENST00000377617.3	37	c.2878	CCDS31902.1	12	.	.	.	.	.	.	.	.	.	.	G	41	8.567667	0.98866	.	.	ENSG00000204842	ENST00000389154;ENST00000389153;ENST00000377617;ENST00000550104;ENST00000542287;ENST00000535949	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-6.6821	19.8673	0.96808	0.0:0.0:1.0:0.0	.	.	.	.	X	13;695;960;960;695;671	.	ENSP00000366843:Q960X	Q	-	1	0	ATXN2	110407959	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.650000	0.83521	2.709000	0.92574	0.655000	0.94253	CAG	ATXN2	-	NULL	ENSG00000204842		0.473	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN2	HGNC	protein_coding	OTTHUMT00000257351.3	134	0.00	0	G	NM_002973		111923576	111923576	-1	no_errors	ENST00000377617	ensembl	human	known	69_37n	nonsense	189	14.48	32	SNP	1.000	A
ATXN2	6311	genome.wustl.edu	37	12	111990111	111990111	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:111990111C>G	ENST00000377617.3	-	5	1185	c.1024G>C	c.(1024-1026)Gat>Cat	p.D342H	ATXN2_ENST00000542287.2_Missense_Mutation_p.D77H|ATXN2_ENST00000608853.1_Missense_Mutation_p.D182H|ATXN2_ENST00000389153.4_Missense_Mutation_p.D77H|ATXN2_ENST00000549455.1_Intron|ATXN2_ENST00000550104.1_Missense_Mutation_p.D342H|ATXN2_ENST00000535949.1_Missense_Mutation_p.D53H	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	342					cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						GAGTCCATATCTTTAAACTGT	0.353																																						dbGAP											0													86.0	86.0	86.0					12																	111990111		2203	4300	6503	-	-	-	SO:0001583	missense	0			U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"""Ataxins"""	10555	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 13"""	601517	"""spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"""	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.1024G>C	12.37:g.111990111C>G	ENSP00000366843:p.Asp342His	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLD4|Q6ZQZ7|Q99493	Missense_Mutation	SNP	pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom	p.D342H	ENST00000377617.3	37	c.1024	CCDS31902.1	12	.	.	.	.	.	.	.	.	.	.	C	25.5	4.640422	0.87859	.	.	ENSG00000204842	ENST00000389153;ENST00000377617;ENST00000550104;ENST00000542287;ENST00000535949;ENST00000471866;ENST00000548492	T;T;T;T;T	0.70045	0.53;-0.39;-0.45;0.53;0.53	5.54	5.54	0.83059	Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.000000	0.85682	D	0.000000	D	0.84202	0.5420	M	0.83223	2.63	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;0.999;0.999;0.999	D	0.85756	0.1346	10	0.87932	D	0	-15.1992	19.8254	0.96616	0.0:1.0:0.0:0.0	.	77;342;53;77	B3KT59;Q99700;Q24JQ7;F8VQP2	.;ATX2_HUMAN;.;.	H	77;342;342;77;53;18;85	ENSP00000373805:D77H;ENSP00000366843:D342H;ENSP00000446576:D342H;ENSP00000445583:D77H;ENSP00000449566:D85H	ENSP00000366843:D342H	D	-	1	0	ATXN2	110474494	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.105000	0.77031	2.754000	0.94517	0.655000	0.94253	GAT	ATXN2	-	superfamily_LSM_dom	ENSG00000204842		0.353	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN2	HGNC	protein_coding	OTTHUMT00000257351.3	108	0.00	0	C	NM_002973		111990111	111990111	-1	no_errors	ENST00000377617	ensembl	human	known	69_37n	missense	101	21.54	28	SNP	1.000	G
ATXN2L	11273	genome.wustl.edu	37	16	28846921	28846921	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:28846921C>G	ENST00000336783.4	+	21	2904	c.2737C>G	c.(2737-2739)Ctg>Gtg	p.L913V	ATXN2L_ENST00000395547.2_Missense_Mutation_p.L913V|ATXN2L_ENST00000564304.1_Missense_Mutation_p.L919V|ATXN2L_ENST00000340394.8_Missense_Mutation_p.L913V|ATXN2L_ENST00000325215.6_Missense_Mutation_p.L913V|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000382686.4_Missense_Mutation_p.L913V|ATXN2L_ENST00000570200.1_Missense_Mutation_p.L913V	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	913					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						ACAGCAGAATCTGTACCACCC	0.672																																						dbGAP											0													33.0	34.0	33.0					16																	28846921		2197	4300	6497	-	-	-	SO:0001583	missense	0				CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.2737C>G	16.37:g.28846921C>G	ENSP00000338718:p.Leu913Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Missense_Mutation	SNP	pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom	p.L913V	ENST00000336783.4	37	c.2737	CCDS10641.1	16	.	.	.	.	.	.	.	.	.	.	.	13.44	2.237309	0.39498	.	.	ENSG00000168488	ENST00000340394;ENST00000395547;ENST00000336783;ENST00000382686;ENST00000325215	T;T;T;T;T	0.56611	0.51;0.45;0.47;0.51;0.49	5.82	4.68	0.58851	.	0.000000	0.56097	D	0.000038	T	0.51941	0.1704	L	0.29908	0.895	0.47094	D	0.999311	P;P;P;P;P;P	0.49090	0.868;0.868;0.919;0.919;0.868;0.919	P;P;P;P;P;P	0.55391	0.601;0.601;0.775;0.775;0.601;0.775	T	0.29912	-0.9996	10	0.13470	T	0.59	-12.2849	14.7161	0.69269	0.0:0.9165:0.0:0.0835	.	913;913;913;913;913;913	Q63ZY4;Q8WWM7;Q8WWM7-2;Q8WWM7-4;A8K1R6;Q8WWM7-3	.;ATX2L_HUMAN;.;.;.;.	V	913	ENSP00000341459:L913V;ENSP00000378917:L913V;ENSP00000338718:L913V;ENSP00000372133:L913V;ENSP00000315650:L913V	ENSP00000315650:L913V	L	+	1	2	ATXN2L	28754422	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.895000	0.39778	2.753000	0.94483	0.467000	0.42956	CTG	ATXN2L	-	NULL	ENSG00000168488		0.672	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATXN2L	HGNC	protein_coding	OTTHUMT00000214139.1	32	0.00	0	C	NM_007245		28846921	28846921	+1	no_errors	ENST00000395547	ensembl	human	known	69_37n	missense	21	16.00	4	SNP	0.997	G
ATXN7L1	222255	genome.wustl.edu	37	7	105279964	105279964	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:105279964C>G	ENST00000419735.3	-	6	960	c.915G>C	c.(913-915)aaG>aaC	p.K305N	ATXN7L1_ENST00000477775.1_Missense_Mutation_p.K181N|ATXN7L1_ENST00000472910.1_5'UTR	NM_020725.1	NP_065776.1	Q9ULK2	AT7L1_HUMAN	ataxin 7-like 1	305	SCA7. {ECO:0000255|PROSITE- ProRule:PRU00838}.									endometrium(1)|large_intestine(4)|lung(5)	10						TGCAAGGTTTCTTTGTCTCGG	0.388																																						dbGAP											0													160.0	142.0	148.0					7																	105279964		692	1591	2283	-	-	-	SO:0001583	missense	0			AB033044	CCDS34727.1, CCDS47682.1, CCDS47683.1	7q22.1	2007-11-13			ENSG00000146776	ENSG00000146776			22210	protein-coding gene	gene with protein product			"""ataxin 7-like 4"""	ATXN7L4		15115762	Standard	NM_152749		Approved	KIAA1218, MGC33190	uc003vde.2	Q9ULK2	OTTHUMG00000157521	ENST00000419735.3:c.915G>C	7.37:g.105279964C>G	ENSP00000410759:p.Lys305Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D0Q2|B4DTS1|Q8N2T0	Missense_Mutation	SNP	pfam_SCA7_dom	p.K305N	ENST00000419735.3	37	c.915	CCDS47682.1	7	.	.	.	.	.	.	.	.	.	.	C	17.07	3.293948	0.60086	.	.	ENSG00000146776	ENST00000419735;ENST00000477775;ENST00000472195	T;T;T	0.19938	2.16;2.12;2.11	5.45	5.45	0.79879	SCA7 domain (2);	0.311165	0.30869	N	0.008702	T	0.43344	0.1243	L	0.51914	1.62	0.80722	D	1	D;P;D	0.76494	0.993;0.789;0.999	D;P;D	0.75020	0.985;0.63;0.984	T	0.12708	-1.0537	10	0.54805	T	0.06	.	19.6556	0.95837	0.0:1.0:0.0:0.0	.	89;181;305	A4D0Q3;Q9ULK2-3;Q9ULK2	.;.;AT7L1_HUMAN	N	305;181;181	ENSP00000410759:K305N;ENSP00000418476:K181N;ENSP00000419566:K181N	ENSP00000410759:K305N	K	-	3	2	ATXN7L1	105067200	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.801000	0.47908	2.725000	0.93324	0.655000	0.94253	AAG	ATXN7L1	-	pfam_SCA7_dom	ENSG00000146776		0.388	ATXN7L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN7L1	HGNC	protein_coding	OTTHUMT00000349037.2	128	0.00	0	C			105279964	105279964	-1	no_errors	ENST00000419735	ensembl	human	known	69_37n	missense	125	19.87	31	SNP	1.000	G
AURKA	6790	genome.wustl.edu	37	20	54963243	54963243	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:54963243G>T	ENST00000347343.2	-	2	278	c.11C>A	c.(10-12)tCt>tAt	p.S4Y	AURKA_ENST00000395911.1_Missense_Mutation_p.S4Y|AURKA_ENST00000395915.3_Missense_Mutation_p.S4Y|AURKA_ENST00000395907.1_Missense_Mutation_p.S4Y|AURKA_ENST00000395909.4_Missense_Mutation_p.S4Y|AURKA_ENST00000312783.6_Missense_Mutation_p.S4Y|AURKA_ENST00000395913.3_Missense_Mutation_p.S4Y|AURKA_ENST00000395914.1_Missense_Mutation_p.S4Y|AURKA_ENST00000371356.2_Missense_Mutation_p.S4Y	NM_003600.2	NP_003591.2	O14965	AURKA_HUMAN	aurora kinase A	4					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|anterior/posterior axis specification (GO:0009948)|centrosome localization (GO:0051642)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein binding (GO:0032091)|negative regulation of spindle checkpoint (GO:0090233)|neuron projection extension (GO:1990138)|positive regulation of mitosis (GO:0045840)|positive regulation of oocyte maturation (GO:1900195)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein autophosphorylation (GO:0046777)|protein localization to centrosome (GO:0071539)|protein phosphorylation (GO:0006468)|regulation of centrosome cycle (GO:0046605)|regulation of protein stability (GO:0031647)|spindle assembly involved in female meiosis I (GO:0007057)|spindle stabilization (GO:0043146)	axon hillock (GO:0043203)|centrosome (GO:0005813)|cytosol (GO:0005829)|germinal vesicle (GO:0042585)|meiotic spindle (GO:0072687)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|histone serine kinase activity (GO:0035174)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.S4F(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22			Colorectal(105;0.202)			GTTTTCTTTAGATCGGTCCAT	0.398																																					Melanoma(34;439 1292 51416 52695)|GBM(144;1525 2517 48902 51835)|Esophageal Squamous(191;569 2880 14195 30540)	dbGAP											1	Substitution - Missense(1)	skin(1)											108.0	115.0	113.0					20																	54963243		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC001280	CCDS13451.1	20q13	2012-07-23	2003-07-21	2003-07-23	ENSG00000087586	ENSG00000087586		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	11393	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 47"", ""Aurora-A kinase"""	603072	"""serine/threonine kinase 15"", "" serine/threonine kinase 6"""	STK15, STK6		9174055, 9771714	Standard	NM_003600		Approved	BTAK, AurA, STK7, ARK1, PPP1R47, AIK	uc002xxi.1	O14965	OTTHUMG00000032796	ENST00000347343.2:c.11C>A	20.37:g.54963243G>T	ENSP00000216911:p.Ser4Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P5F9|O60445|O75873|Q9BQD6|Q9UPG5	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.S4Y	ENST00000347343.2	37	c.11	CCDS13451.1	20	.	.	.	.	.	.	.	.	.	.	G	14.54	2.567008	0.45694	.	.	ENSG00000087586	ENST00000395909;ENST00000395914;ENST00000347343;ENST00000395915;ENST00000312783;ENST00000371356;ENST00000395913;ENST00000395911;ENST00000395907;ENST00000441357;ENST00000420474;ENST00000422322;ENST00000456249;ENST00000451915	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.71103	-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.54;-0.08;2.68;2.44;2.37;2.09	4.59	1.5	0.22942	.	1.024750	0.07763	N	0.950497	T	0.65554	0.2702	L	0.29908	0.895	0.21675	N	0.999592	B;D;P;P;B;B;P	0.59767	0.032;0.986;0.906;0.845;0.068;0.412;0.681	B;P;B;B;B;B;B	0.51135	0.034;0.66;0.272;0.123;0.044;0.133;0.123	T	0.54002	-0.8358	10	0.56958	D	0.05	-10.149	6.4449	0.21871	0.1069:0.4173:0.4759:0.0	.	4;4;4;4;4;4;4	Q5QPD1;Q5QPD2;A3KFJ1;Q5QPD4;A3KFJ0;B2R6Z3;O14965	.;.;.;.;.;.;AURKA_HUMAN	Y	4	ENSP00000379245:S4Y;ENSP00000379250:S4Y;ENSP00000216911:S4Y;ENSP00000379251:S4Y;ENSP00000321591:S4Y;ENSP00000360407:S4Y;ENSP00000379249:S4Y;ENSP00000379247:S4Y;ENSP00000379243:S4Y;ENSP00000393452:S4Y;ENSP00000388073:S4Y;ENSP00000405042:S4Y;ENSP00000405170:S4Y;ENSP00000401358:S4Y	ENSP00000321591:S4Y	S	-	2	0	AURKA	54396650	0.732000	0.28121	0.464000	0.27143	0.971000	0.66376	0.471000	0.22100	0.161000	0.19458	0.585000	0.79938	TCT	AURKA	-	NULL	ENSG00000087586		0.398	AURKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AURKA	HGNC	protein_coding	OTTHUMT00000079804.3	115	0.00	0	G	NM_003600		54963243	54963243	-1	no_errors	ENST00000312783	ensembl	human	known	69_37n	missense	127	18.06	28	SNP	0.585	T
AVL9	23080	genome.wustl.edu	37	7	32598867	32598867	+	Missense_Mutation	SNP	C	C	T	rs368685201		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:32598867C>T	ENST00000318709.4	+	10	1227	c.1006C>T	c.(1006-1008)Cct>Tct	p.P336S	AVL9_ENST00000404479.1_Missense_Mutation_p.P336S|AVL9_ENST00000409301.1_Missense_Mutation_p.P336S	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	336					cell migration (GO:0016477)	integral component of membrane (GO:0016021)|recycling endosome (GO:0055037)				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						AACTTTGGATCCTAGTGTCTT	0.468																																						dbGAP											0													66.0	64.0	65.0					7																	32598867		2203	4300	6503	-	-	-	SO:0001583	missense	0			D87682	CCDS34613.1	7p14.3	2013-05-01	2008-10-03	2008-10-03	ENSG00000105778	ENSG00000105778			28994	protein-coding gene	gene with protein product		612927	"""KIAA0241"""	KIAA0241		17229886, 22595670	Standard	XM_005249668		Approved		uc003tcv.1	Q8NBF6	OTTHUMG00000152929	ENST00000318709.4:c.1006C>T	7.37:g.32598867C>T	ENSP00000315568:p.Pro336Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q92573	Missense_Mutation	SNP	pfam_Secretory_pathway_prot_Avl9,pfam_DUF2347	p.P336S	ENST00000318709.4	37	c.1006	CCDS34613.1	7	.	.	.	.	.	.	.	.	.	.	C	15.12	2.739655	0.49045	.	.	ENSG00000105778	ENST00000318709;ENST00000409301;ENST00000329714;ENST00000404479;ENST00000446718	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.31	4.42	0.53409	.	0.051899	0.85682	D	0.000000	T	0.37073	0.0990	L	0.38531	1.155	0.80722	D	1	P;P;P	0.36753	0.568;0.565;0.568	B;B;B	0.41332	0.354;0.324;0.168	T	0.06661	-1.0814	10	0.25751	T	0.34	-10.0497	14.4165	0.67153	0.0:0.9283:0.0:0.0717	.	336;336;336	Q8N6Z3;Q8NBF6-2;Q8NBF6	.;.;AVL9_HUMAN	S	336;336;336;336;267	ENSP00000315568:P336S;ENSP00000387011:P336S;ENSP00000385242:P336S;ENSP00000395134:P267S	ENSP00000315568:P336S	P	+	1	0	AVL9	32565392	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.660000	0.54496	2.779000	0.95612	0.591000	0.81541	CCT	AVL9	-	pfam_Secretory_pathway_prot_Avl9	ENSG00000105778		0.468	AVL9-003	NOVEL	basic|appris_principal|CCDS	protein_coding	AVL9	HGNC	protein_coding	OTTHUMT00000328643.1	59	0.00	0	C	NM_015060		32598867	32598867	+1	no_errors	ENST00000404479	ensembl	human	known	69_37n	missense	42	17.65	9	SNP	1.000	T
AUTS2	26053	genome.wustl.edu	37	7	70229952	70229952	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:70229952C>G	ENST00000342771.4	+	8	1750	c.1429C>G	c.(1429-1431)Ctg>Gtg	p.L477V	AUTS2_ENST00000406775.2_Missense_Mutation_p.L477V	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	477										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)		ATCAGGAAGTCTGCAGGTGGC	0.657																																						dbGAP											0													66.0	59.0	61.0					7																	70229952		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.1429C>G	7.37:g.70229952C>G	ENSP00000344087:p.Leu477Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	prints_AUTS2	p.L477V	ENST00000342771.4	37	c.1429	CCDS5539.1	7	.	.	.	.	.	.	.	.	.	.	C	20.7	4.039773	0.75732	.	.	ENSG00000158321	ENST00000406775;ENST00000342771	T;T	0.12465	2.68;2.68	5.73	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.32071	0.0817	L	0.59436	1.845	0.80722	D	1	D;P	0.71674	0.998;0.873	D;B	0.77557	0.99;0.359	T	0.00451	-1.1731	9	.	.	.	-18.2289	14.1296	0.65245	0.0:0.927:0.0:0.073	.	477;477	Q8WXX7-2;Q8WXX7	.;AUTS2_HUMAN	V	477	ENSP00000385263:L477V;ENSP00000344087:L477V	.	L	+	1	2	AUTS2	69867888	0.997000	0.39634	1.000000	0.80357	0.997000	0.91878	3.453000	0.52978	2.704000	0.92352	0.655000	0.94253	CTG	AUTS2	-	NULL	ENSG00000158321		0.657	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AUTS2	HGNC	protein_coding	OTTHUMT00000251971.2	50	0.00	0	C			70229952	70229952	+1	no_errors	ENST00000342771	ensembl	human	known	69_37n	missense	91	17.27	19	SNP	1.000	G
AWAT2	158835	genome.wustl.edu	37	X	69262375	69262375	+	Intron	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:69262375G>C	ENST00000276101.3	-	6	653					NM_001002254.1	NP_001002254.1	Q6E213	AWAT2_HUMAN	acyl-CoA wax alcohol acyltransferase 2						wax biosynthetic process (GO:0010025)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	long-chain-alcohol O-fatty-acyltransferase activity (GO:0047196)|retinol O-fatty-acyltransferase activity (GO:0050252)			endometrium(3)|large_intestine(3)|lung(2)|ovary(1)	9						GGTCCAAGTTGAGTGTGGGGG	0.607																																					NSCLC(80;1334 1436 9350 24214 26427)	dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			BC063698	CCDS35320.1	Xq13.1	2009-02-23	2009-02-23	2009-02-23	ENSG00000147160	ENSG00000147160			23251	protein-coding gene	gene with protein product	"""multifunctional O-acyltransferase"""	300925	"""diacylglycerol O-acyltransferase 2-like 4"""	DGAT2L4		14970677, 16106050, 15671038	Standard	NM_001002254		Approved	MFAT	uc004dxt.1	Q6E213	OTTHUMG00000021763	ENST00000276101.3:c.648-139C>G	X.37:g.69262375G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IEE3|Q6P437	Silent	SNP	pfam_DAGAT	p.L105	ENST00000276101.3	37	c.315	CCDS35320.1	X																																																																																			AWAT2	-	NULL	ENSG00000147160		0.607	AWAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AWAT2	HGNC	protein_coding	OTTHUMT00000358738.1	11	0.00	0	G	NM_001002254		69262375	69262375	-1	no_start_codon	ENST00000440401	ensembl	human	known	69_37n	silent	8	50.00	8	SNP	0.000	C
AXIN1	8312	genome.wustl.edu	37	16	343607	343607	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:343607G>A	ENST00000262320.3	-	8	2438	c.2067C>T	c.(2065-2067)ttC>ttT	p.F689F	AXIN1_ENST00000354866.3_Silent_p.F689F	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	689	Interaction with HIPK2. {ECO:0000250}.|Interaction with PPP2CA.|Interaction with RNF111.				activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				GGTCTTGGATGAAGAGGTGGG	0.662																																						dbGAP											0													71.0	90.0	83.0					16																	343607		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	903	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 49"""	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.2067C>T	16.37:g.343607G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Silent	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.F689	ENST00000262320.3	37	c.2067	CCDS10405.1	16																																																																																			AXIN1	-	NULL	ENSG00000103126		0.662	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AXIN1	HGNC	protein_coding	OTTHUMT00000139441.3	41	0.00	0	G			343607	343607	-1	no_errors	ENST00000262320	ensembl	human	known	69_37n	silent	43	21.82	12	SNP	1.000	A
AXIN2	8313	genome.wustl.edu	37	17	63533054	63533054	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:63533054C>G	ENST00000307078.5	-	7	2153	c.1840G>C	c.(1840-1842)Gac>Cac	p.D614H	AXIN2_ENST00000375702.5_Intron	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN	axin 2	614				Missing (in Ref. 2; AAF22799). {ECO:0000305}.	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						TGCGACCTGTCTCCTTCCTCC	0.706									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																													dbGAP											0													75.0	72.0	73.0					17																	63533054		2203	4300	6503	-	-	-	SO:0001583	missense	0	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	ENST00000307078.5:c.1840G>C	17.37:g.63533054C>G	ENSP00000302625:p.Asp614His	Somatic		WXS	Illumina GAIIx	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.D614H	ENST00000307078.5	37	c.1840	CCDS11662.1	17	.	.	.	.	.	.	.	.	.	.	C	27.1	4.800565	0.90538	.	.	ENSG00000168646	ENST00000307078	T	0.67523	-0.27	5.24	5.24	0.73138	.	0.139815	0.64402	D	0.000006	T	0.63105	0.2483	L	0.53249	1.67	0.80722	D	1	P	0.42649	0.786	B	0.36244	0.22	T	0.70292	-0.4912	10	0.72032	D	0.01	-25.1376	18.4275	0.90614	0.0:1.0:0.0:0.0	.	614	Q9Y2T1	AXIN2_HUMAN	H	614	ENSP00000302625:D614H	ENSP00000302625:D614H	D	-	1	0	AXIN2	60963516	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.374000	0.79633	2.429000	0.82318	0.561000	0.74099	GAC	AXIN2	-	NULL	ENSG00000168646		0.706	AXIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AXIN2	HGNC	protein_coding	OTTHUMT00000445900.1	40	0.00	0	C	NM_004655		63533054	63533054	-1	no_errors	ENST00000307078	ensembl	human	known	69_37n	missense	68	11.69	9	SNP	1.000	G
AXIN2	8313	genome.wustl.edu	37	17	63533676	63533676	+	Missense_Mutation	SNP	G	G	A	rs367697282		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:63533676G>A	ENST00000375702.5	-	5	1586	c.1478C>T	c.(1477-1479)tCg>tTg	p.S493L	AXIN2_ENST00000307078.5_Missense_Mutation_p.S493L			Q9Y2T1	AXIN2_HUMAN	axin 2	493					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						GGCGCCCGGCGAGGCGGCCGC	0.687									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																													dbGAP											0													42.0	41.0	42.0					17																	63533676		2200	4295	6495	-	-	-	SO:0001583	missense	0	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.1478C>T	17.37:g.63533676G>A	ENSP00000364854:p.Ser493Leu	Somatic		WXS	Illumina GAIIx	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.S493L	ENST00000375702.5	37	c.1478		17	.	.	.	.	.	.	.	.	.	.	G	0.260	-1.000176	0.02128	.	.	ENSG00000168646	ENST00000307078;ENST00000375702	T;T	0.64991	-0.13;-0.12	4.08	0.92	0.19397	.	1.175500	0.06415	N	0.721315	T	0.39989	0.1099	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.20874	-1.0262	10	0.24483	T	0.36	.	7.6875	0.28548	0.2724:0.0:0.7276:0.0	.	493;493	Q9Y2T1;E7ES00	AXIN2_HUMAN;.	L	493	ENSP00000302625:S493L;ENSP00000364854:S493L	ENSP00000302625:S493L	S	-	2	0	AXIN2	60964138	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	0.195000	0.17155	-0.052000	0.13311	-0.140000	0.14226	TCG	AXIN2	-	NULL	ENSG00000168646		0.687	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	AXIN2	HGNC	protein_coding	OTTHUMT00000445901.1	76	0.00	0	G	NM_004655		63533676	63533676	-1	no_errors	ENST00000307078	ensembl	human	known	69_37n	missense	83	21.70	23	SNP	0.001	A
AXIN2	8313	genome.wustl.edu	37	17	63533813	63533813	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:63533813G>C	ENST00000375702.5	-	5	1449	c.1341C>G	c.(1339-1341)ctC>ctG	p.L447L	AXIN2_ENST00000307078.5_Silent_p.L447L			Q9Y2T1	AXIN2_HUMAN	axin 2	447	Interaction with beta-catenin. {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						CAGGGGTCTTGAGGACCCTGG	0.682									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																													dbGAP											0													13.0	14.0	14.0					17																	63533813		2139	4207	6346	-	-	-	SO:0001819	synonymous_variant	0	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.1341C>G	17.37:g.63533813G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3MJ88|Q9H3M6|Q9UH84	Silent	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.L447	ENST00000375702.5	37	c.1341		17																																																																																			AXIN2	-	pfam_Axin_b-cat-bd	ENSG00000168646		0.682	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	AXIN2	HGNC	protein_coding	OTTHUMT00000445901.1	37	0.00	0	G	NM_004655		63533813	63533813	-1	no_errors	ENST00000307078	ensembl	human	known	69_37n	silent	27	22.86	8	SNP	1.000	C
B3GNT5	84002	genome.wustl.edu	37	3	182987776	182987776	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:182987776C>G	ENST00000326505.3	+	2	720	c.190C>G	c.(190-192)Ctt>Gtt	p.L64V	MCF2L2_ENST00000328913.3_Intron|B3GNT5_ENST00000460419.1_Missense_Mutation_p.L64V|MCF2L2_ENST00000473233.1_Intron|MCF2L2_ENST00000447025.2_Intron|B3GNT5_ENST00000465010.1_Missense_Mutation_p.L64V	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5	64					cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|glycolipid biosynthetic process (GO:0009247)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity (GO:0008457)|galactosyltransferase activity (GO:0008378)|lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase activity (GO:0047256)|lipopolysaccharide N-acetylglucosaminyltransferase activity (GO:0008917)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TACCCTGTCTCTTAAGCACAC	0.403																																						dbGAP											0													118.0	114.0	116.0					3																	182987776		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB045278	CCDS3244.1	3q28	2013-02-21			ENSG00000176597	ENSG00000176597	2.4.1.206	"""Beta 3-glycosyltransferases"""	15684	protein-coding gene	gene with protein product	"""lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase"""	615333				11283017	Standard	XM_005247824		Approved	B3GN-T5, beta3Gn-T5	uc003flk.3	Q9BYG0	OTTHUMG00000158436	ENST00000326505.3:c.190C>G	3.37:g.182987776C>G	ENSP00000316173:p.Leu64Val	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DNS5|Q59FE3|Q7L9Z5|Q8WWP9	Missense_Mutation	SNP	pfam_Glyco_trans_31,superfamily_Luciferase-like_dom	p.L64V	ENST00000326505.3	37	c.190	CCDS3244.1	3	.	.	.	.	.	.	.	.	.	.	C	0.613	-0.824154	0.02755	.	.	ENSG00000176597	ENST00000326505;ENST00000460419;ENST00000464923;ENST00000465010	T;T;T	0.38560	1.13;1.13;1.13	5.92	3.07	0.35406	.	0.565683	0.17359	N	0.177120	T	0.31295	0.0792	L	0.37897	1.145	0.26312	N	0.977803	B	0.02656	0.0	B	0.04013	0.001	T	0.17561	-1.0365	10	0.25751	T	0.34	.	10.7417	0.46158	0.2348:0.4129:0.3523:0.0	.	64	Q9BYG0	B3GN5_HUMAN	V	64	ENSP00000316173:L64V;ENSP00000420778:L64V;ENSP00000417868:L64V	ENSP00000316173:L64V	L	+	1	0	B3GNT5	184470470	0.011000	0.17503	0.796000	0.32109	0.931000	0.56810	-0.425000	0.07017	0.343000	0.23821	0.655000	0.94253	CTT	B3GNT5	-	NULL	ENSG00000176597		0.403	B3GNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GNT5	HGNC	protein_coding	OTTHUMT00000351009.1	86	0.00	0	C	NM_032047		182987776	182987776	+1	no_errors	ENST00000326505	ensembl	human	known	69_37n	missense	103	15.57	19	SNP	0.700	G
B4GALNT2	124872	genome.wustl.edu	37	17	47236528	47236528	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:47236528C>T	ENST00000300404.2	+	6	867	c.808C>T	c.(808-810)Cag>Tag	p.Q270*	B4GALNT2_ENST00000504681.1_Nonsense_Mutation_p.Q184*|B4GALNT2_ENST00000393354.2_Nonsense_Mutation_p.Q210*	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	270					lipid glycosylation (GO:0030259)|negative regulation of cell-cell adhesion (GO:0022408)|protein glycosylation (GO:0006486)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			GTTCATTCTTCAGCACGTGAC	0.522																																					GBM(124;244 1635 8663 18097 33175)	dbGAP											0													229.0	199.0	209.0					17																	47236528		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AJ517770	CCDS11544.1, CCDS54139.1, CCDS54140.1	17q21.33	2013-02-22	2006-01-08	2006-01-08	ENSG00000167080	ENSG00000167080	2.4.1.-	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	24136	protein-coding gene	gene with protein product		111730	"""UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase"""	GALGT2		8782649, 12678917	Standard	NM_153446		Approved	Sda, Cad	uc002ion.2	Q8NHY0	OTTHUMG00000161307	ENST00000300404.2:c.808C>T	17.37:g.47236528C>T	ENSP00000300404:p.Gln270*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZE4|Q14CP1|Q86Y40	Nonsense_Mutation	SNP	pfam_Glyco_trans_2,pirsf_GM2_synthase	p.Q270*	ENST00000300404.2	37	c.808	CCDS11544.1	17	.	.	.	.	.	.	.	.	.	.	C	25.1	4.602168	0.87055	.	.	ENSG00000167080	ENST00000504681;ENST00000393354;ENST00000300404	.	.	.	5.26	4.28	0.50868	.	0.327847	0.25138	N	0.032856	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-4.3828	12.7965	0.57562	0.2965:0.7035:0.0:0.0	.	.	.	.	X	184;210;270	.	ENSP00000300404:Q270X	Q	+	1	0	B4GALNT2	44591527	0.998000	0.40836	0.674000	0.29902	0.400000	0.30750	2.227000	0.42972	1.320000	0.45209	0.655000	0.94253	CAG	B4GALNT2	-	pirsf_GM2_synthase	ENSG00000167080		0.522	B4GALNT2-001	KNOWN	basic|CCDS	protein_coding	B4GALNT2	HGNC	protein_coding	OTTHUMT00000364477.1	66	0.00	0	C	NM_153446		47236528	47236528	+1	no_errors	ENST00000300404	ensembl	human	known	69_37n	nonsense	59	21.33	16	SNP	1.000	T
B4GALNT2	124872	genome.wustl.edu	37	17	47246924	47246924	+	Nonsense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:47246924C>G	ENST00000300404.2	+	11	1594	c.1535C>G	c.(1534-1536)tCa>tGa	p.S512*	RP11-708H21.4_ENST00000575159.1_lincRNA|B4GALNT2_ENST00000504681.1_Nonsense_Mutation_p.S426*|B4GALNT2_ENST00000393354.2_Nonsense_Mutation_p.S452*	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	512					lipid glycosylation (GO:0030259)|negative regulation of cell-cell adhesion (GO:0022408)|protein glycosylation (GO:0006486)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			CTCGTGGGGTCATGCCCAGAA	0.527																																					GBM(124;244 1635 8663 18097 33175)	dbGAP											0													90.0	90.0	90.0					17																	47246924		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AJ517770	CCDS11544.1, CCDS54139.1, CCDS54140.1	17q21.33	2013-02-22	2006-01-08	2006-01-08	ENSG00000167080	ENSG00000167080	2.4.1.-	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	24136	protein-coding gene	gene with protein product		111730	"""UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase"""	GALGT2		8782649, 12678917	Standard	NM_153446		Approved	Sda, Cad	uc002ion.2	Q8NHY0	OTTHUMG00000161307	ENST00000300404.2:c.1535C>G	17.37:g.47246924C>G	ENSP00000300404:p.Ser512*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZE4|Q14CP1|Q86Y40	Nonsense_Mutation	SNP	pfam_Glyco_trans_2,pirsf_GM2_synthase	p.S512*	ENST00000300404.2	37	c.1535	CCDS11544.1	17	.	.	.	.	.	.	.	.	.	.	C	35	5.552017	0.96501	.	.	ENSG00000167080	ENST00000504681;ENST00000393354;ENST00000300404	.	.	.	5.79	5.79	0.91817	.	0.087086	0.47852	D	0.000216	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-14.731	18.7973	0.91999	0.0:1.0:0.0:0.0	.	.	.	.	X	426;452;512	.	ENSP00000300404:S512X	S	+	2	0	B4GALNT2	44601923	1.000000	0.71417	0.952000	0.39060	0.572000	0.35998	4.822000	0.62686	2.745000	0.94114	0.561000	0.74099	TCA	B4GALNT2	-	pirsf_GM2_synthase	ENSG00000167080		0.527	B4GALNT2-001	KNOWN	basic|CCDS	protein_coding	B4GALNT2	HGNC	protein_coding	OTTHUMT00000364477.1	58	0.00	0	C	NM_153446		47246924	47246924	+1	no_errors	ENST00000300404	ensembl	human	known	69_37n	nonsense	56	16.42	11	SNP	0.998	G
B4GALNT3	283358	genome.wustl.edu	37	12	666818	666818	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:666818G>T	ENST00000266383.5	+	16	2438	c.2425G>T	c.(2425-2427)Gaa>Taa	p.E809*		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	809					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CAAAGACATGGAAAACCTGTT	0.512																																						dbGAP											0													86.0	77.0	80.0					12																	666818		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"""Beta 4-glycosyltransferases"""	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.2425G>T	12.37:g.666818G>T	ENSP00000266383:p.Glu809*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZNC1|Q8N7T6	Nonsense_Mutation	SNP	pfam_PA14,pfam_Chond_GalNAc,smart_PA14	p.E809*	ENST00000266383.5	37	c.2425	CCDS8504.1	12	.	.	.	.	.	.	.	.	.	.	G	40	8.531265	0.98852	.	.	ENSG00000139044	ENST00000266383	.	.	.	4.97	4.97	0.65823	.	0.089866	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-5.3916	18.199	0.89832	0.0:0.0:1.0:0.0	.	.	.	.	X	809	.	ENSP00000266383:E809X	E	+	1	0	B4GALNT3	537079	1.000000	0.71417	0.995000	0.50966	0.964000	0.63967	9.368000	0.97152	2.462000	0.83206	0.555000	0.69702	GAA	B4GALNT3	-	pfam_Chond_GalNAc	ENSG00000139044		0.512	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALNT3	HGNC	protein_coding	OTTHUMT00000251406.2	21	0.00	0	G	NM_173593		666818	666818	+1	no_errors	ENST00000266383	ensembl	human	known	69_37n	nonsense	21	36.36	12	SNP	1.000	T
B4GALNT4	338707	genome.wustl.edu	37	11	379938	379938	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:379938C>T	ENST00000329962.6	+	16	2561	c.2561C>T	c.(2560-2562)tCg>tTg	p.S854L		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	854					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACCGGGGACTCGCGTTTCAGC	0.677																																						dbGAP											0													35.0	40.0	38.0					11																	379938		2202	4298	6500	-	-	-	SO:0001583	missense	0			AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"""Beta 4-glycosyltransferases"""	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.2561C>T	11.37:g.379938C>T	ENSP00000328277:p.Ser854Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96LV2	Missense_Mutation	SNP	pfam_Chond_GalNAc,pfam_PA14,smart_PA14	p.S854L	ENST00000329962.6	37	c.2561	CCDS7694.1	11	.	.	.	.	.	.	.	.	.	.	c	15.89	2.966263	0.53507	.	.	ENSG00000182272	ENST00000329962	T	0.15603	2.41	3.73	3.73	0.42828	.	0.658609	0.14758	N	0.300191	T	0.19886	0.0478	L	0.40543	1.245	0.31425	N	0.673806	P	0.43909	0.821	P	0.47645	0.553	T	0.03969	-1.0988	10	0.33141	T	0.24	-18.5914	11.3612	0.49644	0.1814:0.8186:0.0:0.0	.	854	Q76KP1	B4GN4_HUMAN	L	854	ENSP00000328277:S854L	ENSP00000328277:S854L	S	+	2	0	B4GALNT4	369938	1.000000	0.71417	0.997000	0.53966	0.339000	0.28857	5.722000	0.68485	2.073000	0.62155	0.561000	0.74099	TCG	B4GALNT4	-	pfam_Chond_GalNAc	ENSG00000182272		0.677	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALNT4	HGNC	protein_coding	OTTHUMT00000239289.2	32	0.00	0	C	NM_178537		379938	379938	+1	no_errors	ENST00000329962	ensembl	human	known	69_37n	missense	26	36.59	15	SNP	1.000	T
BAAT	570	genome.wustl.edu	37	9	104130414	104130414	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:104130414C>G	ENST00000395051.3	-	2	727	c.657G>C	c.(655-657)ctG>ctC	p.L219L	BAAT_ENST00000259407.2_Silent_p.L219L			Q14032	BAAT_HUMAN	bile acid CoA:amino acid N-acyltransferase	219					acyl-CoA metabolic process (GO:0006637)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid conjugation (GO:0002152)|bile acid metabolic process (GO:0008206)|fatty acid metabolic process (GO:0006631)|glycine metabolic process (GO:0006544)|liver development (GO:0001889)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|taurine metabolic process (GO:0019530)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carboxylic ester hydrolase activity (GO:0052689)|glycine N-choloyltransferase activity (GO:0047963)|long-chain acyl-CoA hydrolase activity (GO:0052816)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|N-acyltransferase activity (GO:0016410)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|very long chain acyl-CoA hydrolase activity (GO:0052817)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	TTGGATGTCTCAGGAGAAAGT	0.428																																						dbGAP											0													62.0	67.0	66.0					9																	104130414		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L34081	CCDS6752.1	9q22.3	2014-06-24	2014-06-24		ENSG00000136881	ENSG00000136881	2.3.1.65		932	protein-coding gene	gene with protein product	"""glycine N-choloyltransferase"""	602938	"""bile acid Coenzyme A:amino acid N-acyltransferase (glycine N-choloyltransferase)"", ""bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)"""				Standard	NM_001701		Approved	BAT	uc010mtd.3	Q14032	OTTHUMG00000020377	ENST00000395051.3:c.657G>C	9.37:g.104130414C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3B7W9|Q96L31	Silent	SNP	pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain	p.L219	ENST00000395051.3	37	c.657	CCDS6752.1	9																																																																																			BAAT	-	pfam_BAAT_C,pirsf_Acyl-CoA_thioEstase_long-chain	ENSG00000136881		0.428	BAAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAAT	HGNC	protein_coding	OTTHUMT00000053433.1	87	0.00	0	C			104130414	104130414	-1	no_errors	ENST00000259407	ensembl	human	known	69_37n	silent	35	49.28	34	SNP	0.011	G
BAAT	570	genome.wustl.edu	37	9	104130452	104130452	+	Missense_Mutation	SNP	C	C	T	rs267602055		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:104130452C>T	ENST00000395051.3	-	2	689	c.619G>A	c.(619-621)Gat>Aat	p.D207N	BAAT_ENST00000259407.2_Missense_Mutation_p.D207N			Q14032	BAAT_HUMAN	bile acid CoA:amino acid N-acyltransferase	207					acyl-CoA metabolic process (GO:0006637)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid conjugation (GO:0002152)|bile acid metabolic process (GO:0008206)|fatty acid metabolic process (GO:0006631)|glycine metabolic process (GO:0006544)|liver development (GO:0001889)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|taurine metabolic process (GO:0019530)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carboxylic ester hydrolase activity (GO:0052689)|glycine N-choloyltransferase activity (GO:0047963)|long-chain acyl-CoA hydrolase activity (GO:0052816)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|N-acyltransferase activity (GO:0016410)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|very long chain acyl-CoA hydrolase activity (GO:0052817)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	TATTCCAAATCTGTTACTTCT	0.473																																						dbGAP											0													75.0	81.0	79.0					9																	104130452		2203	4300	6503	-	-	-	SO:0001583	missense	0			L34081	CCDS6752.1	9q22.3	2014-06-24	2014-06-24		ENSG00000136881	ENSG00000136881	2.3.1.65		932	protein-coding gene	gene with protein product	"""glycine N-choloyltransferase"""	602938	"""bile acid Coenzyme A:amino acid N-acyltransferase (glycine N-choloyltransferase)"", ""bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)"""				Standard	NM_001701		Approved	BAT	uc010mtd.3	Q14032	OTTHUMG00000020377	ENST00000395051.3:c.619G>A	9.37:g.104130452C>T	ENSP00000378491:p.Asp207Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3B7W9|Q96L31	Missense_Mutation	SNP	pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain	p.D207N	ENST00000395051.3	37	c.619	CCDS6752.1	9	.	.	.	.	.	.	.	.	.	.	C	15.10	2.733707	0.48939	.	.	ENSG00000136881	ENST00000259407;ENST00000395051	T;T	0.33216	1.42;1.42	4.38	4.38	0.52667	BAAT/Acyl-CoA thioester hydrolase C-terminal (1);	0.308918	0.26995	N	0.021447	T	0.38401	0.1039	L	0.57536	1.79	0.24816	N	0.992618	P	0.47302	0.893	P	0.48770	0.589	T	0.21348	-1.0248	10	0.30854	T	0.27	-23.7968	14.4931	0.67665	0.0:1.0:0.0:0.0	.	207	Q14032	BAAT_HUMAN	N	207	ENSP00000259407:D207N;ENSP00000378491:D207N	ENSP00000259407:D207N	D	-	1	0	BAAT	103170273	0.102000	0.21896	0.163000	0.22734	0.732000	0.41865	0.550000	0.23345	2.280000	0.76307	0.561000	0.74099	GAT	BAAT	-	pfam_BAAT_C,pirsf_Acyl-CoA_thioEstase_long-chain	ENSG00000136881		0.473	BAAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAAT	HGNC	protein_coding	OTTHUMT00000053433.1	103	0.00	0	C			104130452	104130452	-1	no_errors	ENST00000259407	ensembl	human	known	69_37n	missense	64	16.88	13	SNP	0.347	T
BAD	572	genome.wustl.edu	37	11	64039112	64039112	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:64039112C>T	ENST00000394532.3	-	2	621	c.351G>A	c.(349-351)atG>atA	p.M117I	BAD_ENST00000309032.3_Missense_Mutation_p.M117I|BAD_ENST00000394531.3_Silent_p.*164*|BAD_ENST00000544785.1_Intron	NM_004322.3	NP_004313.1	Q92934	BAD_HUMAN	BCL2-associated agonist of cell death	117					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|ADP metabolic process (GO:0046031)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|ATP metabolic process (GO:0046034)|cellular process regulating host cell cycle in response to virus (GO:0060154)|cellular response to chromate (GO:0071247)|cellular response to hypoxia (GO:0071456)|cellular response to lipid (GO:0071396)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose catabolic process (GO:0006007)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|pore complex assembly (GO:0046931)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic process by virus (GO:0060139)|positive regulation of autophagy (GO:0010508)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of glucokinase activity (GO:0033133)|positive regulation of insulin secretion (GO:0032024)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane potential (GO:0010918)|positive regulation of neuron death (GO:1901216)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of mitochondrial membrane permeability (GO:0046902)|release of cytochrome c from mitochondria (GO:0001836)|response to amino acid (GO:0043200)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to oleic acid (GO:0034201)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|suppression by virus of host apoptotic process (GO:0019050)|type B pancreatic cell proliferation (GO:0044342)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|lipid binding (GO:0008289)|phospholipid binding (GO:0005543)|protein kinase binding (GO:0019901)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4						ACTCGTCACTCATCCTCCGGA	0.687																																						dbGAP											0													34.0	27.0	29.0					11																	64039112		2070	4050	6120	-	-	-	SO:0001583	missense	0			AF021792	CCDS8065.1	11q13.1	2014-03-07	2008-08-19		ENSG00000002330	ENSG00000002330			936	protein-coding gene	gene with protein product		603167				8929532	Standard	NM_004322		Approved	BCL2L8, BBC2	uc001nzd.3	Q92934	OTTHUMG00000134302	ENST00000394532.3:c.351G>A	11.37:g.64039112C>T	ENSP00000378040:p.Met117Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	O14803|Q6FH21	Missense_Mutation	SNP	pfam_Bcl-2_BAD	p.M117I	ENST00000394532.3	37	c.351	CCDS8065.1	11	.	.	.	.	.	.	.	.	.	.	C	29.9	5.042607	0.93685	.	.	ENSG00000002330	ENST00000394532;ENST00000540152;ENST00000309032;ENST00000493798;ENST00000492141	T;T;T;T	0.54071	0.59;0.59;0.59;0.59	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.72153	0.3425	M	0.75264	2.295	0.80722	D	1	D	0.53885	0.963	D	0.69824	0.966	T	0.74500	-0.3645	10	0.87932	D	0	-14.9456	15.3615	0.74478	0.0:1.0:0.0:0.0	.	117	Q92934	BAD_HUMAN	I	117;117;117;32;32	ENSP00000378040:M117I;ENSP00000309103:M117I;ENSP00000438975:M32I;ENSP00000439202:M32I	ENSP00000309103:M117I	M	-	3	0	BAD	63795688	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.637000	0.61346	2.703000	0.92315	0.561000	0.74099	ATG	BAD	-	pfam_Bcl-2_BAD	ENSG00000002330		0.687	BAD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BAD	HGNC	protein_coding	OTTHUMT00000259180.2	34	0.00	0	C	NM_032989		64039112	64039112	-1	no_errors	ENST00000309032	ensembl	human	known	69_37n	missense	38	17.39	8	SNP	1.000	T
BAG2	9532	genome.wustl.edu	37	6	57048783	57048783	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:57048783C>G	ENST00000370693.5	+	3	803	c.431C>G	c.(430-432)tCt>tGt	p.S144C	BAG2_ENST00000545080.1_Missense_Mutation_p.S111C	NM_004282.3	NP_004273.1	O95816	BAG2_HUMAN	BCL2-associated athanogene 2	144	BAG. {ECO:0000255|PROSITE- ProRule:PRU00369}.				protein folding (GO:0006457)|protein metabolic process (GO:0019538)		identical protein binding (GO:0042802)			endometrium(1)|large_intestine(1)	2	Lung NSC(77;0.126)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			GCATGTTCATCTGAGGTGCCA	0.408																																						dbGAP											0													126.0	121.0	123.0					6																	57048783		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF095192	CCDS4961.1	6p12.3-p11.2	2008-02-05			ENSG00000112208	ENSG00000112208			938	protein-coding gene	gene with protein product		603882				9873016	Standard	NM_004282		Approved		uc003pdr.3	O95816	OTTHUMG00000014919	ENST00000370693.5:c.431C>G	6.37:g.57048783C>G	ENSP00000359727:p.Ser144Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DXE2|Q08AS9|Q6FID0	Missense_Mutation	SNP	pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain	p.S144C	ENST00000370693.5	37	c.431	CCDS4961.1	6	.	.	.	.	.	.	.	.	.	.	C	28.2	4.897339	0.91962	.	.	ENSG00000112208	ENST00000370693;ENST00000438730;ENST00000545080	.	.	.	6.06	6.06	0.98353	BAG domain (3);	0.091871	0.85682	D	0.000000	T	0.75117	0.3806	M	0.68593	2.085	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.66847	0.947;0.947	T	0.74813	-0.3537	9	0.66056	D	0.02	-16.6215	20.6244	0.99512	0.0:1.0:0.0:0.0	.	111;144	B4DXE2;O95816	.;BAG2_HUMAN	C	144;93;111	.	ENSP00000359727:S144C	S	+	2	0	BAG2	57156742	1.000000	0.71417	0.994000	0.49952	0.886000	0.51366	6.003000	0.70701	2.879000	0.98667	0.650000	0.86243	TCT	BAG2	-	pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain	ENSG00000112208		0.408	BAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAG2	HGNC	protein_coding	OTTHUMT00000041044.2	81	0.00	0	C			57048783	57048783	+1	no_errors	ENST00000370693	ensembl	human	known	69_37n	missense	68	29.90	29	SNP	1.000	G
BAG5	9529	genome.wustl.edu	37	14	104027276	104027276	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:104027276C>G	ENST00000445922.2	-	2	472	c.226G>C	c.(226-228)Gaa>Caa	p.E76Q	BAG5_ENST00000299204.4_Missense_Mutation_p.E76Q|BAG5_ENST00000337322.4_Missense_Mutation_p.E117Q|APOPT1_ENST00000556253.2_5'Flank|RP11-894P9.2_ENST00000556332.1_RNA|RP11-73M18.2_ENST00000472726.2_5'Flank|APOPT1_ENST00000247618.4_5'Flank|APOPT1_ENST00000409074.2_5'Flank	NM_004873.3	NP_004864.1	Q9UL15	BAG5_HUMAN	BCL2-associated athanogene 5	76	BAG 1. {ECO:0000255|PROSITE- ProRule:PRU00369}.				negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein refolding (GO:0061084)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron death (GO:0070997)|protein folding (GO:0006457)|regulation of inclusion body assembly (GO:0090083)	inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chaperone binding (GO:0051087)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24		Melanoma(154;0.155)	Epithelial(46;0.144)			AGAAGACGTTCTGTCTCCTGT	0.443																																					NSCLC(171;1832 2055 18950 31566 41632)	dbGAP											0													128.0	123.0	124.0					14																	104027276		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF095195	CCDS9982.1, CCDS41995.1	14q32	2008-08-01				ENSG00000166170			941	protein-coding gene	gene with protein product		603885				9873016, 15603737	Standard	NM_001015048		Approved		uc001ynh.2	Q9UL15		ENST00000445922.2:c.226G>C	14.37:g.104027276C>G	ENSP00000391713:p.Glu76Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O94950|Q86W59	Missense_Mutation	SNP	pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain	p.E117Q	ENST00000445922.2	37	c.349	CCDS9982.1	14	.	.	.	.	.	.	.	.	.	.	C	14.57	2.574146	0.45902	.	.	ENSG00000166170	ENST00000299204;ENST00000445922;ENST00000337322;ENST00000557666	D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82	5.61	4.73	0.59995	BAG domain (3);	0.052359	0.85682	N	0.000000	T	0.82226	0.4991	N	0.11651	0.15	0.58432	D	0.999996	D;D	0.76494	0.979;0.999	P;D	0.67382	0.881;0.951	T	0.78383	-0.2225	10	0.12103	T	0.63	-32.5472	14.2581	0.66065	0.0:0.9289:0.0:0.0711	.	76;117	Q9UL15;Q9UL15-2	BAG5_HUMAN;.	Q	76;76;117;76	ENSP00000299204:E76Q;ENSP00000391713:E76Q;ENSP00000338814:E117Q;ENSP00000450497:E76Q	ENSP00000299204:E76Q	E	-	1	0	BAG5	103097029	1.000000	0.71417	0.041000	0.18516	0.976000	0.68499	7.013000	0.76373	1.379000	0.46325	0.655000	0.94253	GAA	BAG5	-	pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain	ENSG00000166170		0.443	BAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAG5	HGNC	protein_coding	OTTHUMT00000414990.1	115	0.00	0	C			104027276	104027276	-1	no_errors	ENST00000337322	ensembl	human	known	69_37n	missense	47	55.24	58	SNP	0.994	G
BAHD1	22893	genome.wustl.edu	37	15	40758220	40758220	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:40758220C>T	ENST00000416165.1	+	7	2305	c.2234C>T	c.(2233-2235)tCc>tTc	p.S745F	RP11-64K12.8_ENST00000559730.1_RNA|BAHD1_ENST00000561234.1_Missense_Mutation_p.S744F|BAHD1_ENST00000560846.1_Missense_Mutation_p.S742F	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	745	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				heterochromatin assembly (GO:0031507)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)	chromatin binding (GO:0003682)			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		GCAGACTATTCCACCCCACCC	0.597																																						dbGAP											0													134.0	128.0	130.0					15																	40758220		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL833923	CCDS10058.1, CCDS73705.1	15q14	2005-11-10			ENSG00000140320	ENSG00000140320			29153	protein-coding gene	gene with protein product		613880				10231032	Standard	XM_005254229		Approved	KIAA0945	uc001zlu.2	Q8TBE0	OTTHUMG00000129982	ENST00000416165.1:c.2234C>T	15.37:g.40758220C>T	ENSP00000396976:p.Ser745Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NDF7|Q9Y2F4	Missense_Mutation	SNP	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.S745F	ENST00000416165.1	37	c.2234	CCDS10058.1	15	.	.	.	.	.	.	.	.	.	.	C	21.4	4.141687	0.77775	.	.	ENSG00000140320	ENST00000416165	T	0.21361	2.01	5.39	5.39	0.77823	Bromo adjacent homology (BAH) domain (3);	0.063498	0.64402	D	0.000004	T	0.41971	0.1182	L	0.45581	1.43	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.71184	0.967;0.972;0.952	T	0.19386	-1.0307	10	0.66056	D	0.02	-23.4818	19.1605	0.93529	0.0:1.0:0.0:0.0	.	742;745;744	Q8TBE0-3;Q8TBE0;Q8TBE0-2	.;BAHD1_HUMAN;.	F	745	ENSP00000396976:S745F	ENSP00000396976:S745F	S	+	2	0	BAHD1	38545512	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.909000	0.63314	2.543000	0.85770	0.563000	0.77884	TCC	BAHD1	-	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	ENSG00000140320		0.597	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BAHD1	HGNC	protein_coding	OTTHUMT00000252248.1	99	0.00	0	C	NM_014952		40758220	40758220	+1	no_errors	ENST00000416165	ensembl	human	known	69_37n	missense	94	24.19	30	SNP	1.000	T
BAI1	575	genome.wustl.edu	37	8	143603395	143603395	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:143603395G>A	ENST00000517894.1	+	21	3988	c.3094G>A	c.(3094-3096)Gag>Aag	p.E1032K	BAI1_ENST00000323289.5_Missense_Mutation_p.E1032K			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1032					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GGTGCTCACCGAGGCCTGGCA	0.697																																						dbGAP											0													45.0	52.0	50.0					8																	143603395		2200	4300	6500	-	-	-	SO:0001583	missense	0			AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.3094G>A	8.37:g.143603395G>A	ENSP00000430945:p.Glu1032Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like	p.E1032K	ENST00000517894.1	37	c.3094		8	.	.	.	.	.	.	.	.	.	.	G	29.2	4.981977	0.93044	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.64991	-0.13;-0.13	3.78	3.78	0.43462	.	0.163418	0.39687	U	0.001288	T	0.81805	0.4900	M	0.89534	3.04	0.58432	D	0.999999	D	0.89917	1.0	D	0.77004	0.989	D	0.86527	0.1819	10	0.87932	D	0	.	14.6053	0.68475	0.0:0.0:1.0:0.0	.	1032	E9PBK0	.	K	1032	ENSP00000430945:E1032K;ENSP00000313046:E1032K	ENSP00000313046:E1032K	E	+	1	0	BAI1	143600397	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.685000	0.84117	1.641000	0.50575	0.305000	0.20034	GAG	BAI1	-	pfam_GPCR_2_secretin-like,prints_GPCR_2_secretin-like,pfscan_GPCR_2-like	ENSG00000181790		0.697	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	BAI1	HGNC	protein_coding	OTTHUMT00000379963.3	62	0.00	0	G	NM_001702		143603395	143603395	+1	no_errors	ENST00000323289	ensembl	human	known	69_37n	missense	17	67.92	36	SNP	1.000	A
BAI2	576	genome.wustl.edu	37	1	32205600	32205600	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:32205600C>G	ENST00000373658.3	-	14	2435	c.2094G>C	c.(2092-2094)gtG>gtC	p.V698V	BAI2_ENST00000398542.1_Silent_p.V631V|BAI2_ENST00000398547.1_Silent_p.V631V|BAI2_ENST00000373655.2_Silent_p.V698V|BAI2_ENST00000527361.1_Silent_p.V698V|BAI2_ENST00000440175.2_Silent_p.V340V|BAI2_ENST00000257070.4_Silent_p.V698V|BAI2_ENST00000398538.1_Silent_p.V686V|BAI2_ENST00000398556.3_Silent_p.V646V	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	698					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		TGAAGTCCTCCACGACACGGA	0.587																																						dbGAP											0													88.0	88.0	88.0					1																	32205600		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.2094G>C	1.37:g.32205600C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.V698	ENST00000373658.3	37	c.2094	CCDS346.2	1																																																																																			BAI2	-	pfam_DUF3497	ENSG00000121753		0.587	BAI2-015	KNOWN	basic|CCDS	protein_coding	BAI2	HGNC	protein_coding	OTTHUMT00000381838.1	64	0.00	0	C	NM_001703		32205600	32205600	-1	no_errors	ENST00000373658	ensembl	human	known	69_37n	silent	72	24.21	23	SNP	1.000	G
BAIAP3	8938	genome.wustl.edu	37	16	1395996	1395996	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:1395996G>A	ENST00000324385.5	+	24	2481	c.2323G>A	c.(2323-2325)Gag>Aag	p.E775K	BAIAP3_ENST00000568887.1_Missense_Mutation_p.E712K|BAIAP3_ENST00000421665.2_Missense_Mutation_p.E704K|BAIAP3_ENST00000397489.1_Missense_Mutation_p.E757K|BAIAP3_ENST00000562208.1_Missense_Mutation_p.E717K|BAIAP3_ENST00000426824.3_Missense_Mutation_p.E740K|BAIAP3_ENST00000397488.2_Missense_Mutation_p.E757K	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	775	MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				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)				GGACGTGTGTGAGGCCACCCT	0.677																																						dbGAP											0													28.0	28.0	28.0					16																	1395996		2195	4297	6492	-	-	-	SO:0001583	missense	0			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.2323G>A	16.37:g.1395996G>A	ENSP00000324510:p.Glu775Lys	Somatic		WXS	Illumina GAIIx	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.E775K	ENST00000324385.5	37	c.2323	CCDS10434.1	16	.	.	.	.	.	.	.	.	.	.	G	7.602	0.672950	0.14776	.	.	ENSG00000007516	ENST00000426824;ENST00000397488;ENST00000324385;ENST00000397489;ENST00000421665	T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;-0.44	4.55	2.37	0.29283	Munc13 homology 1 (1);	0.292047	0.36815	N	0.002400	T	0.38401	0.1039	N	0.20766	0.605	0.09310	N	0.999992	B;B;B;B	0.14438	0.008;0.004;0.01;0.004	B;B;B;B	0.12837	0.008;0.005;0.005;0.007	T	0.23226	-1.0194	10	0.02654	T	1	-24.1771	2.7141	0.05182	0.1032:0.1868:0.5171:0.1929	.	704;717;775;757	E7EUB9;B4DIK3;O94812;A2A2B2	.;.;BAIP3_HUMAN;.	K	740;757;775;757;704	ENSP00000407242:E740K;ENSP00000380625:E757K;ENSP00000324510:E775K;ENSP00000380626:E757K;ENSP00000409533:E704K	ENSP00000324510:E775K	E	+	1	0	BAIAP3	1335997	0.037000	0.19845	0.784000	0.31847	0.224000	0.24922	2.264000	0.43302	0.862000	0.35528	0.436000	0.28706	GAG	BAIAP3	-	NULL	ENSG00000007516		0.677	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	BAIAP3	HGNC	protein_coding	OTTHUMT00000109056.3	22	0.00	0	G			1395996	1395996	+1	no_errors	ENST00000324385	ensembl	human	known	69_37n	missense	22	21.43	6	SNP	0.239	A
BARD1	580	genome.wustl.edu	37	2	215610501	215610501	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:215610501G>A	ENST00000260947.4	-	8	1889	c.1755C>T	c.(1753-1755)ctC>ctT	p.L585L	BARD1_ENST00000449967.2_Silent_p.L441L	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	585	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CAAGCTCACTGAGCATTTTCT	0.398									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													dbGAP											0													163.0	164.0	164.0					2																	215610501		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376		"""Ankyrin repeat domain containing"""	952	protein-coding gene	gene with protein product		601593				8944023, 9425226, 15159397	Standard	NM_001282548		Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.1755C>T	2.37:g.215610501G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Silent	SNP	pfam_Ankyrin_rpt,pfam_BRCT_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_Ankyrin_rpt,smart_BRCT_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BRCT_dom,pfscan_Znf_RING,prints_Ankyrin_rpt	p.L585	ENST00000260947.4	37	c.1755	CCDS2397.1	2																																																																																			BARD1	-	pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	ENSG00000138376		0.398	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BARD1	HGNC	protein_coding	OTTHUMT00000256602.1	115	0.00	0	G	NM_000465		215610501	215610501	-1	no_errors	ENST00000260947	ensembl	human	known	69_37n	silent	123	19.61	30	SNP	0.218	A
BAX	581	genome.wustl.edu	37	19	49464088	49464088	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:49464088G>A	ENST00000345358.7	+	5	443	c.391G>A	c.(391-393)Gaa>Aaa	p.E131K	BAX_ENST00000539787.1_Silent_p.R163R|BAX_ENST00000293288.8_Missense_Mutation_p.E131K|BAX_ENST00000354470.3_Missense_Mutation_p.E82K|BAX_ENST00000391871.3_3'UTR|BAX_ENST00000415969.2_Missense_Mutation_p.E131K	NM_138761.3|NM_138764.4	NP_620116.1|NP_620119.2	Q07812	BAX_HUMAN	BCL2-associated X protein	131					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|apoptotic process involved in patterning of blood vessels (GO:1902262)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|B cell homeostatic proliferation (GO:0002358)|B cell negative selection (GO:0002352)|B cell receptor apoptotic signaling pathway (GO:1990117)|blood vessel remodeling (GO:0001974)|cellular response to organic substance (GO:0071310)|cellular response to UV (GO:0034644)|cerebral cortex development (GO:0021987)|development of secondary sexual characteristics (GO:0045136)|ectopic germ cell programmed cell death (GO:0035234)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells within a tissue (GO:0048873)|hypothalamus development (GO:0021854)|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 (GO:0008630)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion morphogenesis (GO:0070584)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein binding (GO:0032091)|neuron apoptotic process (GO:0051402)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic DNA fragmentation (GO:1902512)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of developmental pigmentation (GO:0048087)|positive regulation of endoplasmic reticulum unfolded protein response (GO:1900103)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-embryonic camera-type eye morphogenesis (GO:0048597)|protein homooligomerization (GO:0051260)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)|protein oligomerization (GO:0051259)|regulation of cell cycle (GO:0051726)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of mitochondrial membrane permeability involved in programmed necrotic cell death (GO:1902445)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of nitrogen utilization (GO:0006808)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|release of cytochrome c from mitochondria (GO:0001836)|release of matrix enzymes from mitochondria (GO:0032976)|response to axon injury (GO:0048678)|response to gamma radiation (GO:0010332)|response to salt stress (GO:0009651)|response to toxic substance (GO:0009636)|retina development in camera-type eye (GO:0060041)|retinal cell apoptotic process (GO:1990009)|retinal cell programmed cell death (GO:0046666)|Sertoli cell proliferation (GO:0060011)|spermatid differentiation (GO:0048515)|T cell homeostatic proliferation (GO:0001777)|thymocyte apoptotic process (GO:0070242)|transformed cell apoptotic process (GO:0006927)|vagina development (GO:0060068)|viral process (GO:0016032)	BAX complex (GO:0097144)|Bcl-2 family protein complex (GO:0097136)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrial permeability transition pore complex (GO:0005757)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pore complex (GO:0046930)	BH3 domain binding (GO:0051434)|channel activity (GO:0015267)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4)	17		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)		CAAGGTGCCGGAACTGATCAG	0.602																																						dbGAP											0													113.0	97.0	102.0					19																	49464088		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12742.1, CCDS12743.1, CCDS12744.1, CCDS12745.1, CCDS12745.2	19q13.3-q13.4	2014-03-07			ENSG00000087088	ENSG00000087088			959	protein-coding gene	gene with protein product		600040				8358790	Standard	NM_138761		Approved	BCL2L4	uc002plf.1	Q07812	OTTHUMG00000160476	ENST00000345358.7:c.391G>A	19.37:g.49464088G>A	ENSP00000263262:p.Glu131Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4W1|P55269|Q07814|Q07815|Q8WZ49|Q9NR76|Q9NYG7|Q9UCZ6|Q9UCZ7|Q9UQD6	Missense_Mutation	SNP	pfam_Bcl2_BH,smart_Bcl2_BH,pfscan_Bcl2-like_apoptosis,prints_Bcl2_BH	p.E131K	ENST00000345358.7	37	c.391	CCDS12742.1	19	.	.	.	.	.	.	.	.	.	.	G	14.07	2.426533	0.43020	.	.	ENSG00000087088	ENST00000345358;ENST00000415969;ENST00000354470;ENST00000293288	T;T;T;T	0.31769	1.48;2.74;1.48;2.74	3.1	-0.653	0.11447	Apoptosis regulator, Bcl2-like (1);Apoptosis regulator, Bcl-2, BH (3);	0.370091	0.27906	N	0.017373	T	0.34250	0.0891	M	0.64404	1.975	0.80722	D	1	P;P;P;D	0.56521	0.949;0.949;0.92;0.976	P;P;B;P	0.49301	0.496;0.448;0.395;0.606	T	0.17623	-1.0363	10	0.40728	T	0.16	-5.1839	10.6862	0.45843	0.0:0.5575:0.4425:0.0	.	82;131;131;131	Q07812-4;Q07812;Q07812-8;Q07812-2	.;BAX_HUMAN;.;.	K	131;131;82;131	ENSP00000263262:E131K;ENSP00000389971:E131K;ENSP00000346461:E82K;ENSP00000293288:E131K	ENSP00000293288:E131K	E	+	1	0	BAX	54155900	0.998000	0.40836	0.907000	0.35723	0.217000	0.24651	2.928000	0.48908	-0.019000	0.14055	0.544000	0.68410	GAA	BAX	-	pfam_Bcl2_BH,smart_Bcl2_BH,pfscan_Bcl2-like_apoptosis,prints_Bcl2_BH	ENSG00000087088		0.602	BAX-006	KNOWN	basic|appris_principal|CCDS	protein_coding	BAX	HGNC	protein_coding	OTTHUMT00000360767.1	39	0.00	0	G	NM_138763		49464088	49464088	+1	no_errors	ENST00000293288	ensembl	human	known	69_37n	missense	36	28.00	14	SNP	0.977	A
BAZ2A	11176	genome.wustl.edu	37	12	56993873	56993873	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:56993873C>T	ENST00000551812.1	-	25	5099	c.4906G>A	c.(4906-4908)Gag>Aag	p.E1636K	BAZ2A_ENST00000179765.5_Missense_Mutation_p.E1604K|BAZ2A_ENST00000549884.1_Missense_Mutation_p.E1634K|BAZ2A_ENST00000553222.1_5'Flank|BAZ2A_ENST00000379441.3_Missense_Mutation_p.E1606K	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1636					chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						GGGGTGATCTCATATGATCTG	0.577																																						dbGAP											0													87.0	88.0	88.0					12																	56993873		2002	4174	6176	-	-	-	SO:0001583	missense	0			AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.4906G>A	12.37:g.56993873C>T	ENSP00000446880:p.Glu1636Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KN66|O00536|O15030|Q68DI8|Q96H26	Missense_Mutation	SNP	pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_DNA-bd,smart_AT_hook_DNA-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.E1636K	ENST00000551812.1	37	c.4906	CCDS44924.1	12	.	.	.	.	.	.	.	.	.	.	C	23.8	4.459423	0.84317	.	.	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549787;ENST00000549884	T;T;T;T;T	0.72942	-0.45;-0.45;-0.49;-0.7;-0.48	5.51	5.51	0.81932	.	0.152283	0.50627	D	0.000109	T	0.80358	0.4608	M	0.69358	2.11	0.58432	D	0.999991	D;D;P;D	0.71674	0.998;0.988;0.951;0.997	D;P;P;D	0.72625	0.978;0.908;0.867;0.942	T	0.77122	-0.2704	10	0.30078	T	0.28	-21.0751	11.9951	0.53196	0.0:0.9194:0.0:0.0806	.	1634;1632;1636;1609	F8VU39;Q9UIF9-3;Q9UIF9;Q9UIF9-2	.;.;BAZ2A_HUMAN;.	K	1606;1604;1636;568;1634	ENSP00000368754:E1606K;ENSP00000179765:E1604K;ENSP00000446880:E1636K;ENSP00000448760:E568K;ENSP00000447941:E1634K	ENSP00000179765:E1604K	E	-	1	0	BAZ2A	55280140	1.000000	0.71417	0.994000	0.49952	0.860000	0.49131	5.706000	0.68362	2.763000	0.94921	0.650000	0.86243	GAG	BAZ2A	-	NULL	ENSG00000076108		0.577	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BAZ2A	HGNC	protein_coding	OTTHUMT00000408561.1	45	0.00	0	C	NM_013449		56993873	56993873	-1	no_errors	ENST00000551812	ensembl	human	known	69_37n	missense	37	24.49	12	SNP	1.000	T
BAZ2B	29994	genome.wustl.edu	37	2	160182372	160182372	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:160182372C>T	ENST00000392783.2	-	35	6496	c.6001G>A	c.(6001-6003)Gag>Aag	p.E2001K	BAZ2B_ENST00000355831.2_Missense_Mutation_p.E1967K|BAZ2B_ENST00000392782.1_Missense_Mutation_p.E1965K|BAZ2B_ENST00000343439.5_Missense_Mutation_p.E1901K	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	2001					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TTCTTTGACTCATTAGTCTTT	0.323																																						dbGAP											0													100.0	91.0	94.0					2																	160182372		1826	4080	5906	-	-	-	SO:0001583	missense	0			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.6001G>A	2.37:g.160182372C>T	ENSP00000376534:p.Glu2001Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.E2001K	ENST00000392783.2	37	c.6001	CCDS2209.2	2	.	.	.	.	.	.	.	.	.	.	C	17.56	3.419509	0.62622	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439	T;T;T;T	0.58506	0.33;0.33;0.33;0.33	5.63	5.63	0.86233	.	0.202420	0.23633	U	0.046107	T	0.56140	0.1965	L	0.29908	0.895	0.51233	D	0.99991	P;D	0.53885	0.592;0.963	B;P	0.50082	0.254;0.63	T	0.47686	-0.9098	10	0.18276	T	0.48	-1.7634	19.6949	0.96021	0.0:1.0:0.0:0.0	.	1965;2001	Q9UIF8-5;Q9UIF8	.;BAZ2B_HUMAN	K	1965;2001;1967;1901	ENSP00000376533:E1965K;ENSP00000376534:E2001K;ENSP00000348087:E1967K;ENSP00000339670:E1901K	ENSP00000339670:E1901K	E	-	1	0	BAZ2B	159890618	1.000000	0.71417	0.953000	0.39169	0.999000	0.98932	6.938000	0.75904	2.649000	0.89929	0.650000	0.86243	GAG	BAZ2B	-	NULL	ENSG00000123636		0.323	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ2B	HGNC	protein_coding	OTTHUMT00000255037.2	161	0.00	0	C			160182372	160182372	-1	no_errors	ENST00000392783	ensembl	human	known	69_37n	missense	160	10.61	19	SNP	1.000	T
BAZ2B	29994	genome.wustl.edu	37	2	160189167	160189167	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:160189167C>T	ENST00000392783.2	-	34	6322	c.5827G>A	c.(5827-5829)Gaa>Aaa	p.E1943K	BAZ2B_ENST00000355831.2_Missense_Mutation_p.E1909K|BAZ2B_ENST00000392782.1_Missense_Mutation_p.E1907K|BAZ2B_ENST00000343439.5_Missense_Mutation_p.E1843K	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1943					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						AGCAGTTCTTCATTATCTCCC	0.383																																						dbGAP											0													105.0	96.0	99.0					2																	160189167		1872	4097	5969	-	-	-	SO:0001583	missense	0			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.5827G>A	2.37:g.160189167C>T	ENSP00000376534:p.Glu1943Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.E1943K	ENST00000392783.2	37	c.5827	CCDS2209.2	2	.	.	.	.	.	.	.	.	.	.	C	16.39	3.109470	0.56398	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439	D;D;D;D	0.84944	-1.92;-1.92;-1.92;-1.92	5.36	5.36	0.76844	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.37393	U	0.002114	D	0.93575	0.7949	M	0.87381	2.88	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.87578	0.99;0.998	D	0.94207	0.7455	10	0.66056	D	0.02	-17.884	19.0705	0.93134	0.0:1.0:0.0:0.0	.	1907;1943	Q9UIF8-5;Q9UIF8	.;BAZ2B_HUMAN	K	1907;1943;1909;1843	ENSP00000376533:E1907K;ENSP00000376534:E1943K;ENSP00000348087:E1909K;ENSP00000339670:E1843K	ENSP00000339670:E1843K	E	-	1	0	BAZ2B	159897413	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.524000	0.85096	0.650000	0.86243	GAA	BAZ2B	-	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	ENSG00000123636		0.383	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ2B	HGNC	protein_coding	OTTHUMT00000255037.2	72	0.00	0	C			160189167	160189167	-1	no_errors	ENST00000392783	ensembl	human	known	69_37n	missense	56	25.33	19	SNP	1.000	T
BAZ2B	29994	genome.wustl.edu	37	2	160287376	160287376	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:160287376G>C	ENST00000392783.2	-	10	2687	c.2192C>G	c.(2191-2193)tCt>tGt	p.S731C	BAZ2B_ENST00000355831.2_Missense_Mutation_p.S731C|BAZ2B_ENST00000392782.1_Missense_Mutation_p.S729C|BAZ2B_ENST00000343439.5_Intron	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	731					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						GTAGGTACCAGAGTGTGGGCT	0.408																																						dbGAP											0													90.0	87.0	88.0					2																	160287376		1867	4109	5976	-	-	-	SO:0001583	missense	0			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.2192C>G	2.37:g.160287376G>C	ENSP00000376534:p.Ser731Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.S731C	ENST00000392783.2	37	c.2192	CCDS2209.2	2	.	.	.	.	.	.	.	.	.	.	G	15.42	2.828791	0.50845	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831	T;D;T	0.96491	1.87;-4.03;1.87	5.64	4.75	0.60458	DNA-binding, integrase-type (1);	0.210766	0.23032	U	0.052726	D	0.89904	0.6850	N	0.08118	0	0.80722	D	1	B;B;B	0.14805	0.01;0.011;0.007	B;B;B	0.13407	0.009;0.007;0.002	D	0.85559	0.1226	10	0.28530	T	0.3	-7.6461	12.9103	0.58177	0.0:0.3978:0.6022:0.0	.	535;729;731	Q9UIF8-4;Q9UIF8-5;Q9UIF8	.;.;BAZ2B_HUMAN	C	729;731;731	ENSP00000376533:S729C;ENSP00000376534:S731C;ENSP00000348087:S731C	ENSP00000348087:S731C	S	-	2	0	BAZ2B	159995622	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.316000	0.51960	2.659000	0.90383	0.643000	0.83706	TCT	BAZ2B	-	superfamily_DNA-bd_integrase-typ	ENSG00000123636		0.408	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ2B	HGNC	protein_coding	OTTHUMT00000255037.2	94	0.00	0	G			160287376	160287376	-1	no_errors	ENST00000392783	ensembl	human	known	69_37n	missense	92	21.85	26	SNP	1.000	C
BAZ2B	29994	genome.wustl.edu	37	2	160289507	160289507	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:160289507G>C	ENST00000392783.2	-	9	2156	c.1661C>G	c.(1660-1662)tCt>tGt	p.S554C	BAZ2B_ENST00000355831.2_Missense_Mutation_p.S554C|BAZ2B_ENST00000392782.1_Missense_Mutation_p.S552C|BAZ2B_ENST00000343439.5_Missense_Mutation_p.S552C	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	554					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						GGGAGAGGCAGAGGGCATTAC	0.453																																						dbGAP											0													184.0	170.0	174.0					2																	160289507		1911	4129	6040	-	-	-	SO:0001583	missense	0			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.1661C>G	2.37:g.160289507G>C	ENSP00000376534:p.Ser554Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.S554C	ENST00000392783.2	37	c.1661	CCDS2209.2	2	.	.	.	.	.	.	.	.	.	.	G	14.97	2.694562	0.48202	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439;ENST00000546335	T;T;T;D	0.86769	1.44;1.44;1.44;-2.17	5.91	5.91	0.95273	.	0.000000	0.36854	U	0.002372	D	0.91016	0.7174	L	0.51422	1.61	0.32287	N	0.566775	D;P;P;P;P	0.76494	0.999;0.911;0.8;0.911;0.856	D;P;P;P;B	0.80764	0.994;0.494;0.526;0.494;0.299	D	0.91843	0.5485	10	0.66056	D	0.02	-8.6872	13.498	0.61436	0.0711:0.0:0.9289:0.0	.	554;358;552;552;554	Q9UIF8-3;Q9UIF8-4;Q9UIF8-2;Q9UIF8-5;Q9UIF8	.;.;.;.;BAZ2B_HUMAN	C	552;554;554;552;491	ENSP00000376533:S552C;ENSP00000376534:S554C;ENSP00000348087:S554C;ENSP00000339670:S552C	ENSP00000339670:S552C	S	-	2	0	BAZ2B	159997753	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	6.829000	0.75314	2.814000	0.96858	0.650000	0.86243	TCT	BAZ2B	-	NULL	ENSG00000123636		0.453	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ2B	HGNC	protein_coding	OTTHUMT00000255037.2	166	0.00	0	G			160289507	160289507	-1	no_errors	ENST00000392783	ensembl	human	known	69_37n	missense	182	16.51	36	SNP	1.000	C
BBS10	79738	genome.wustl.edu	37	12	76740142	76740142	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:76740142G>C	ENST00000393262.3	-	2	1706	c.1623C>G	c.(1621-1623)ctC>ctG	p.L541L		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	541					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|regulation of protein complex assembly (GO:0043254)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell projection (GO:0042995)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						AATTGTTCTTGAGTAATGGTT	0.363									Bardet-Biedl syndrome																													dbGAP											0													121.0	118.0	119.0					12																	76740142		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	BC026355	CCDS9014.2	12q21.2	2014-06-17	2006-04-28	2006-04-28	ENSG00000179941	ENSG00000179941		"""Heat Shock Proteins / Chaperonins"""	26291	protein-coding gene	gene with protein product		610148	"""chromosome 12 open reading frame 58"""	C12orf58		16582908	Standard	NM_024685		Approved	FLJ23560	uc001syd.1	Q8TAM1	OTTHUMG00000147352	ENST00000393262.3:c.1623C>G	12.37:g.76740142G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96CW2|Q9H5D2	Silent	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1	p.L541	ENST00000393262.3	37	c.1623	CCDS9014.2	12																																																																																			BBS10	-	superfamily_Cpn60/TCP-1	ENSG00000179941		0.363	BBS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS10	HGNC	protein_coding	OTTHUMT00000303983.2	111	0.00	0	G	NM_024685		76740142	76740142	-1	no_errors	ENST00000393262	ensembl	human	known	69_37n	silent	104	23.36	32	SNP	0.000	C
BBS7	55212	genome.wustl.edu	37	4	122780242	122780242	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:122780242C>G	ENST00000264499.4	-	5	616	c.433G>C	c.(433-435)Gat>Cat	p.D145H	BBS7_ENST00000506636.1_Missense_Mutation_p.D145H	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	145					brain development (GO:0007420)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|digestive tract morphogenesis (GO:0048546)|eye development (GO:0001654)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|limb development (GO:0060173)|melanosome transport (GO:0032402)|nonmotile primary cilium assembly (GO:0035058)|palate development (GO:0060021)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|visual perception (GO:0007601)	axoneme (GO:0005930)|BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TTGATTTTATCCCCAGAAAGG	0.428									Bardet-Biedl syndrome																													dbGAP											0													140.0	147.0	144.0					4																	122780242		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF521644	CCDS3724.1, CCDS54799.1	4q27	2013-01-08			ENSG00000138686	ENSG00000138686			18758	protein-coding gene	gene with protein product		607590					Standard	NM_176824		Approved	FLJ10715, BBS2L1	uc003ied.3	Q8IWZ6	OTTHUMG00000133076	ENST00000264499.4:c.433G>C	4.37:g.122780242C>G	ENSP00000264499:p.Asp145His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W5P8|Q8N581|Q9NVI4	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_7_prot	p.D145H	ENST00000264499.4	37	c.433	CCDS3724.1	4	.	.	.	.	.	.	.	.	.	.	C	27.8	4.861669	0.91433	.	.	ENSG00000138686	ENST00000264499;ENST00000506636	D;D	0.92048	-2.96;-2.96	5.37	5.37	0.77165	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.96700	0.8923	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97198	0.9862	10	0.87932	D	0	-17.1959	19.1089	0.93309	0.0:1.0:0.0:0.0	.	145	Q8IWZ6	BBS7_HUMAN	H	145	ENSP00000264499:D145H;ENSP00000423626:D145H	ENSP00000264499:D145H	D	-	1	0	BBS7	122999692	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.492000	0.81482	2.520000	0.84964	0.655000	0.94253	GAT	BBS7	-	superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_7_prot	ENSG00000138686		0.428	BBS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS7	HGNC	protein_coding	OTTHUMT00000256716.1	59	0.00	0	C			122780242	122780242	-1	no_errors	ENST00000264499	ensembl	human	known	69_37n	missense	52	20.00	13	SNP	1.000	G
BCAN	63827	genome.wustl.edu	37	1	156617872	156617872	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:156617872G>C	ENST00000329117.5	+	5	1075	c.739G>C	c.(739-741)Gat>Cat	p.D247H	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.D247H	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	247	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGACCTCTATGATGTGTACTG	0.557																																						dbGAP											0													152.0	139.0	144.0					1																	156617872		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.739G>C	1.37:g.156617872G>C	ENSP00000331210:p.Asp247His	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EGF-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EGF-like,smart_C-type_lectin,smart_Sushi_SCR_CCP,prints_Link,prints_AntifreezeII,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like	p.D247H	ENST00000329117.5	37	c.739	CCDS1149.1	1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.385627	0.82792	.	.	ENSG00000132692	ENST00000255029;ENST00000329117;ENST00000424639;ENST00000361588	T;T;T	0.15487	2.42;2.42;2.42	4.0	4.0	0.46444	C-type lectin fold (1);Link (4);C-type lectin-like (1);	0.000000	0.64402	D	0.000020	T	0.36468	0.0968	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.41431	-0.9509	10	0.87932	D	0	-16.686	14.8316	0.70153	0.0:0.0:1.0:0.0	.	247;247	Q96GW7;Q96GW7-2	PGCB_HUMAN;.	H	188;247;145;247	ENSP00000331210:D247H;ENSP00000401709:D145H;ENSP00000354925:D247H	ENSP00000255029:D188H	D	+	1	0	BCAN	154884496	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.564000	0.98151	2.063000	0.61619	0.555000	0.69702	GAT	BCAN	-	pfam_Link,superfamily_C-type_lectin_fold,smart_Link,prints_Link,pfscan_Link	ENSG00000132692		0.557	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCAN	HGNC	protein_coding	OTTHUMT00000081844.2	49	0.00	0	G	NM_021948		156617872	156617872	+1	no_errors	ENST00000329117	ensembl	human	known	69_37n	missense	49	41.67	35	SNP	1.000	C
BCAP29	55973	genome.wustl.edu	37	7	107262380	107262380	+	IGR	SNP	C	C	G	rs574325099		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:107262380C>G	ENST00000005259.4	+	0	4572				BCAP29_ENST00000379119.2_3'UTR	NM_018844.3	NP_061332.2	Q9UHQ4	BAP29_HUMAN	B-cell receptor-associated protein 29						apoptotic process (GO:0006915)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|osteoblast differentiation (GO:0001649)|protein localization to endoplasmic reticulum exit site (GO:0070973)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	14						CAGGACAGATCTGTAATGGCC	0.388													C|||	1	0.000199681	0.0	0.0014	5008	,	,		22431	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													82.0	80.0	80.0					7																	107262380		2203	4300	6503	-	-	-	SO:0001628	intergenic_variant	0				CCDS34730.1, CCDS34731.1	7q22.3	2012-09-20			ENSG00000075790	ENSG00000075790			24131	protein-coding gene	gene with protein product						12477932	Standard	NM_018844		Approved	BAP29, DKFZp686M2086	uc011kma.1	Q9UHQ4	OTTHUMG00000154770		7.37:g.107262380C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	G5E9L4|O95003	Missense_Mutation	SNP	pfam_Bap31	p.I289M	ENST00000005259.4	37	c.867	CCDS34731.1	7	.	.	.	.	.	.	.	.	.	.	c	1.608	-0.524745	0.04141	.	.	ENSG00000075790	ENST00000491150	.	.	.	2.24	2.24	0.28232	.	.	.	.	.	T	0.42539	0.1207	.	.	.	0.23550	N	0.997433	.	.	.	.	.	.	T	0.35475	-0.9787	5	0.87932	D	0	.	8.0379	0.30504	0.0:1.0:0.0:0.0	.	.	.	.	M	289	.	ENSP00000419681:I289M	I	+	3	3	BCAP29	107049616	0.022000	0.18835	0.020000	0.16555	0.054000	0.15201	2.228000	0.42981	1.593000	0.50029	0.491000	0.48974	ATC	BCAP29	-	NULL	ENSG00000075790		0.388	BCAP29-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BCAP29	HGNC	protein_coding	OTTHUMT00000337011.2	65	0.00	0	C	NM_018844		107262380	107262380	+1	no_start_codon	ENST00000491150	ensembl	human	novel	69_37n	missense	59	26.25	21	SNP	0.021	G
BCAR3	8412	genome.wustl.edu	37	1	94033396	94033396	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:94033396C>T	ENST00000370244.1	-	12	2275	c.1987G>A	c.(1987-1989)Gaa>Aaa	p.E663K	BCAR3_ENST00000370247.3_Missense_Mutation_p.E572K|BCAR3_ENST00000539242.1_Missense_Mutation_p.E339K|BCAR3_ENST00000370243.1_Missense_Mutation_p.E663K|BCAR3_ENST00000260502.6_Missense_Mutation_p.E663K	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	663	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		CACGTCTTTTCTAACCTTGTG	0.483																																						dbGAP											0													105.0	104.0	104.0					1																	94033396		2203	4300	6503	-	-	-	SO:0001583	missense	0			U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"""SH2 domain containing"""	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.1987G>A	1.37:g.94033396C>T	ENSP00000359264:p.Glu663Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DT43|Q5TEW3|Q6UW40|Q9BR50	Missense_Mutation	SNP	pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,pfscan_RasGRF_CDC25	p.E663K	ENST00000370244.1	37	c.1987	CCDS745.1	1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.549004	0.86127	.	.	ENSG00000137936	ENST00000370247;ENST00000260502;ENST00000370244;ENST00000370243;ENST00000539242	T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87	5.39	5.39	0.77823	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.094335	0.64402	D	0.000001	T	0.25938	0.0632	M	0.64997	1.995	0.80722	D	1	P;P	0.50710	0.68;0.938	P;P	0.45610	0.469;0.487	T	0.04165	-1.0972	10	0.54805	T	0.06	-10.3218	19.1489	0.93479	0.0:1.0:0.0:0.0	.	663;572	O75815;Q5TEW3	BCAR3_HUMAN;.	K	572;663;663;663;339	ENSP00000359267:E572K;ENSP00000260502:E663K;ENSP00000359264:E663K;ENSP00000359263:E663K;ENSP00000441343:E339K	ENSP00000260502:E663K	E	-	1	0	BCAR3	93805984	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.452000	0.80683	2.517000	0.84864	0.561000	0.74099	GAA	BCAR3	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25	ENSG00000137936		0.483	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BCAR3	HGNC	protein_coding	OTTHUMT00000028420.1	125	0.00	0	C			94033396	94033396	-1	no_errors	ENST00000260502	ensembl	human	known	69_37n	missense	89	30.47	39	SNP	1.000	T
BCAS1	8537	genome.wustl.edu	37	20	52570099	52570099	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:52570099C>A	ENST00000395961.3	-	11	1718	c.1552G>T	c.(1552-1554)Gaa>Taa	p.E518*	BCAS1_ENST00000434986.2_Nonsense_Mutation_p.E184*|BCAS1_ENST00000371435.2_Nonsense_Mutation_p.E440*|BCAS1_ENST00000371440.3_Nonsense_Mutation_p.E527*	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	518						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			TCTTTGGCTTCCTGCTTGTTG	0.552																																						dbGAP											0													281.0	215.0	237.0					20																	52570099		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF041260	CCDS13444.1	20q13.2	2006-11-10			ENSG00000064787	ENSG00000064787			974	protein-coding gene	gene with protein product		602968				9671742	Standard	NM_003657		Approved	NABC1, AIBC1	uc002xws.2	O75363	OTTHUMG00000032772	ENST00000395961.3:c.1552G>T	20.37:g.52570099C>A	ENSP00000379290:p.Glu518*	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVG5|Q68CZ3	Nonsense_Mutation	SNP	NULL	p.E527*	ENST00000395961.3	37	c.1579	CCDS13444.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.475461|5.475461	0.96291|0.96291	.|.	.|.	ENSG00000064787|ENSG00000064787	ENST00000448484;ENST00000371440;ENST00000448710;ENST00000395961;ENST00000371435;ENST00000434986|ENST00000422805	.|.	.|.	.|.	5.17|5.17	5.17|5.17	0.71159|0.71159	.|.	0.319813|.	0.30649|.	N|.	0.009173|.	.|T	.|0.71281	.|0.3321	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70238	.|-0.4927	.|4	0.28530|.	T|.	0.3|.	-11.7036|-11.7036	15.3996|15.3996	0.74827|0.74827	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|S	389;527;318;518;440;184|180	.|.	ENSP00000360490:E440X|.	E|R	-|-	1|3	0|2	BCAS1|BCAS1	52003506|52003506	1.000000|1.000000	0.71417|0.71417	0.853000|0.853000	0.33588|0.33588	0.051000|0.051000	0.14879|0.14879	4.531000|4.531000	0.60602|0.60602	2.402000|2.402000	0.81655|0.81655	0.555000|0.555000	0.69702|0.69702	GAA|AGG	BCAS1	-	NULL	ENSG00000064787		0.552	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCAS1	HGNC	protein_coding	OTTHUMT00000079766.2	284	0.35	1	C	NM_003657		52570099	52570099	-1	no_errors	ENST00000371440	ensembl	human	known	69_37n	nonsense	337	16.54	67	SNP	0.997	A
BCAS1	8537	genome.wustl.edu	37	20	52612549	52612549	+	Missense_Mutation	SNP	C	C	A	rs6022903	byFrequency	TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:52612549C>A	ENST00000395961.3	-	5	930	c.764G>T	c.(763-765)gGa>gTa	p.G255V	BCAS1_ENST00000434986.2_5'UTR|BCAS1_ENST00000371435.2_Missense_Mutation_p.G255V|BCAS1_ENST00000371440.3_Missense_Mutation_p.G255V	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	255			G -> E (in dbSNP:rs6022903).			cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			ATCCGCAGTTCCAAGTTCTTG	0.478																																						dbGAP											0													146.0	119.0	128.0					20																	52612549		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF041260	CCDS13444.1	20q13.2	2006-11-10			ENSG00000064787	ENSG00000064787			974	protein-coding gene	gene with protein product		602968				9671742	Standard	NM_003657		Approved	NABC1, AIBC1	uc002xws.2	O75363	OTTHUMG00000032772	ENST00000395961.3:c.764G>T	20.37:g.52612549C>A	ENSP00000379290:p.Gly255Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVG5|Q68CZ3	Missense_Mutation	SNP	NULL	p.G255V	ENST00000395961.3	37	c.764	CCDS13444.1	20	.	.	.	.	.	.	.	.	.	.	C	1.444	-0.566788	0.03910	.	.	ENSG00000064787	ENST00000448484;ENST00000371440;ENST00000448710;ENST00000395961;ENST00000371435	T;T;T;T	0.07216	3.21;3.21;3.21;3.21	6.03	0.43	0.16515	.	1.238380	0.05831	N	0.617641	T	0.04272	0.0118	N	0.08118	0	0.80722	P	0.0	B;B;B;B;B	0.24132	0.002;0.002;0.019;0.098;0.098	B;B;B;B;B	0.26770	0.005;0.005;0.003;0.073;0.073	T	0.44236	-0.9341	9	0.28530	T	0.3	0.9268	2.6594	0.05021	0.0914:0.3081:0.3135:0.2871	.	255;255;255;255;255	B2RCQ5;O75363-2;G3XAF7;A0AVG7;O75363	.;.;.;.;BCAS1_HUMAN	V	117;255;133;255;255	ENSP00000396361:G117V;ENSP00000360495:G255V;ENSP00000379290:G255V;ENSP00000360490:G255V	ENSP00000360490:G255V	G	-	2	0	BCAS1	52045956	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.695000	0.25527	0.052000	0.16007	-0.137000	0.14449	GGA	BCAS1	-	NULL	ENSG00000064787		0.478	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCAS1	HGNC	protein_coding	OTTHUMT00000079766.2	109	0.91	1	C	NM_003657		52612549	52612549	-1	no_errors	ENST00000371440	ensembl	human	known	69_37n	missense	129	17.31	27	SNP	0.000	A
BCDIN3D	144233	genome.wustl.edu	37	12	50232728	50232728	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:50232728C>G	ENST00000333924.4	-	2	346	c.305G>C	c.(304-306)aGa>aCa	p.R102T	BCDIN3D-AS1_ENST00000548872.1_RNA|BCDIN3D-AS1_ENST00000549124.1_RNA	NM_181708.2	NP_859059.1	Q7Z5W3	BN3D2_HUMAN	BCDIN3 domain containing	102	Bin3-type SAM. {ECO:0000255|PROSITE- ProRule:PRU00848}.				miRNA metabolic process (GO:0010586)|negative regulation of pre-miRNA processing (GO:2000632)|RNA methylation (GO:0001510)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	O-methyltransferase activity (GO:0008171)|RNA methyltransferase activity (GO:0008173)			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)	9						ACGGAATTCTCTTGAGGCATC	0.493											OREG0021805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													86.0	82.0	83.0					12																	50232728		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8790.1	12q13.13	2008-03-12				ENSG00000186666			27050	protein-coding gene	gene with protein product							Standard	NM_181708		Approved		uc001rvh.3	Q7Z5W3	OTTHUMG00000169807	ENST00000333924.4:c.305G>C	12.37:g.50232728C>G	ENSP00000335201:p.Arg102Thr	Somatic	968	WXS	Illumina GAIIx	Phase_IV	A8K829	Missense_Mutation	SNP	pfam_Bin3	p.R102T	ENST00000333924.4	37	c.305	CCDS8790.1	12	.	.	.	.	.	.	.	.	.	.	C	12.30	1.895203	0.33442	.	.	ENSG00000186666	ENST00000333924	T	0.50277	0.75	5.37	1.15	0.20763	Bin3-type S-adenosyl-L-methionine binding domain (1);	0.862536	0.10833	N	0.629144	T	0.39200	0.1069	M	0.71206	2.165	0.20196	N	0.99992	B	0.06786	0.001	B	0.04013	0.001	T	0.33420	-0.9869	10	0.21014	T	0.42	.	2.1624	0.03828	0.1495:0.3979:0.2902:0.1624	.	102	Q7Z5W3	BN3D2_HUMAN	T	102	ENSP00000335201:R102T	ENSP00000335201:R102T	R	-	2	0	BCDIN3D	48518995	0.008000	0.16893	0.661000	0.29709	0.991000	0.79684	1.102000	0.31050	0.322000	0.23283	0.591000	0.81541	AGA	BCDIN3D	-	NULL	ENSG00000186666		0.493	BCDIN3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCDIN3D	HGNC	protein_coding	OTTHUMT00000405982.1	67	0.00	0	C	NM_181708		50232728	50232728	-1	no_errors	ENST00000333924	ensembl	human	known	69_37n	missense	68	20.93	18	SNP	0.210	G
BCHE	590	genome.wustl.edu	37	3	165548023	165548023	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:165548023C>T	ENST00000264381.3	-	2	965	c.799G>A	c.(799-801)Gct>Act	p.A267T	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	267					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	CTGTTCCTAGCTTCATAAAGA	0.408																																						dbGAP											0													100.0	104.0	103.0					3																	165548023		2203	4300	6503	-	-	-	SO:0001583	missense	0			M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.799G>A	3.37:g.165548023C>T	ENSP00000264381:p.Ala267Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7P8	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase	p.A267T	ENST00000264381.3	37	c.799	CCDS3198.1	3	.	.	.	.	.	.	.	.	.	.	C	19.71	3.878578	0.72294	.	.	ENSG00000114200	ENST00000264381	D	0.95622	-3.76	5.62	5.62	0.85841	Carboxylesterase, type B (1);	0.105843	0.64402	D	0.000005	D	0.96577	0.8883	M	0.72624	2.21	0.80722	D	1	P	0.36712	0.566	P	0.48304	0.573	D	0.96587	0.9435	10	0.66056	D	0.02	.	18.6354	0.91376	0.0:1.0:0.0:0.0	.	267	P06276	CHLE_HUMAN	T	267	ENSP00000264381:A267T	ENSP00000264381:A267T	A	-	1	0	BCHE	167030717	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	3.398000	0.52579	2.652000	0.90054	0.655000	0.94253	GCT	BCHE	-	pfam_CarbesteraseB	ENSG00000114200		0.408	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCHE	HGNC	protein_coding	OTTHUMT00000350254.1	69	0.00	0	C			165548023	165548023	-1	no_errors	ENST00000264381	ensembl	human	known	69_37n	missense	83	13.54	13	SNP	1.000	T
BCL2L1	598	genome.wustl.edu	37	20	30309730	30309730	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:30309730C>T	ENST00000307677.4	-	2	702	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K	BCL2L1_ENST00000420653.1_Missense_Mutation_p.E98K|BCL2L1_ENST00000376055.4_Missense_Mutation_p.E98K|BCL2L1_ENST00000376062.2_Missense_Mutation_p.E98K	NM_138578.1	NP_612815.1	Q07817	B2CL1_HUMAN	BCL2-like 1	98					apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|apoptotic process in bone marrow (GO:0071839)|cell proliferation (GO:0008283)|cellular process regulating host cell cycle in response to virus (GO:0060154)|cellular response to alkaloid (GO:0071312)|cellular response to amino acid stimulus (GO:0071230)|cellular response to gamma radiation (GO:0071480)|cytokinesis (GO:0000910)|endocytosis (GO:0006897)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fertilization (GO:0009566)|germ cell development (GO:0007281)|growth (GO:0040007)|hepatocyte apoptotic process (GO:0097284)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male gonad development (GO:0008584)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|release of cytochrome c from mitochondria (GO:0001836)|response to cycloheximide (GO:0046898)|response to cytokine (GO:0034097)|spermatogenesis (GO:0007283)|suppression by virus of host apoptotic process (GO:0019050)	Bcl-2 family protein complex (GO:0097136)|cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synapse (GO:0045202)	BH3 domain binding (GO:0051434)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			TACCGCAGTTCAAACTCGTCG	0.572																																					Colon(51;693 1004 1401 20431 21026)	dbGAP											0													96.0	86.0	89.0					20																	30309730		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z23115	CCDS13188.1, CCDS13189.1	20q11.21	2014-03-07			ENSG00000171552	ENSG00000171552		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	992	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 52"""	600039				8358789	Standard	NM_001191		Approved	BCLX, BCL2L, Bcl-X, bcl-xL, bcl-xS, PPP1R52	uc002wwl.3	Q07817	OTTHUMG00000032192	ENST00000307677.4:c.292G>A	20.37:g.30309730C>T	ENSP00000302564:p.Glu98Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P5L6|Q5CZ89|Q5TE65|Q92976	Missense_Mutation	SNP	pfam_Bcl2_BH,pfam_Bcl2_BH4,smart_Bcl2_BH4,smart_Bcl2_BH,pfscan_Bcl2-like_apoptosis,pfscan_Bcl2_BH4,prints_Apop_reg_BclX,prints_Bcl2_BH,tigrfam_Bcl2_reg	p.E98K	ENST00000307677.4	37	c.292	CCDS13189.1	20	.	.	.	.	.	.	.	.	.	.	C	32	5.129501	0.94473	.	.	ENSG00000171552	ENST00000376062;ENST00000376055;ENST00000307677;ENST00000420653;ENST00000450273;ENST00000420488;ENST00000456404;ENST00000422920;ENST00000439267	T;T;T;T;T;T;T;T;T	0.13538	2.58;3.41;2.58;2.58;2.58;2.58;2.58;2.58;2.58	5.64	5.64	0.86602	Apoptosis regulator, Bcl2-like (1);Apoptosis regulator, Bcl-2, BH3 motif, conserved site (1);Apoptosis regulator, Bcl-2, BH (2);	0.000000	0.85682	D	0.000000	T	0.47544	0.1451	M	0.89785	3.06	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.81914	0.983;0.995	T	0.53244	-0.8466	10	0.72032	D	0.01	-16.6074	18.8715	0.92317	0.0:1.0:0.0:0.0	.	98;98	Q5TE63;Q07817	.;B2CL1_HUMAN	K	98	ENSP00000365230:E98K;ENSP00000365223:E98K;ENSP00000302564:E98K;ENSP00000405563:E98K;ENSP00000406203:E98K;ENSP00000390760:E98K;ENSP00000395545:E98K;ENSP00000411252:E98K;ENSP00000389688:E98K	ENSP00000302564:E98K	E	-	1	0	BCL2L1	29773391	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.772000	0.68889	2.937000	0.99478	0.650000	0.86243	GAA	BCL2L1	-	pfam_Bcl2_BH,smart_Bcl2_BH,pfscan_Bcl2-like_apoptosis,tigrfam_Bcl2_reg	ENSG00000171552		0.572	BCL2L1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BCL2L1	HGNC	protein_coding	OTTHUMT00000078575.1	82	0.00	0	C	NM_138578		30309730	30309730	-1	no_errors	ENST00000307677	ensembl	human	known	69_37n	missense	94	12.15	13	SNP	1.000	T
BCL2L11	10018	genome.wustl.edu	37	2	111921718	111921718	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:111921718G>A	ENST00000393256.3	+	4	780	c.507G>A	c.(505-507)ttG>ttA	p.L169L	BCL2L11_ENST00000308659.8_Silent_p.L109L	NM_001204106.1|NM_006538.4|NM_138621.4|NM_138627.3	NP_001191035.1|NP_006529.1|NP_619527.1|NP_619533.1	O43521	B2L11_HUMAN	BCL2-like 11 (apoptosis facilitator)	169					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|brain development (GO:0007420)|cell-matrix adhesion (GO:0007160)|cellular process regulating host cell cycle in response to virus (GO:0060154)|developmental pigmentation (GO:0048066)|ear development (GO:0043583)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mammary gland development (GO:0030879)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic process by virus (GO:0060139)|positive regulation of cell cycle (GO:0045787)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902110)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|post-embryonic organ morphogenesis (GO:0048563)|regulation of developmental pigmentation (GO:0048070)|regulation of organ growth (GO:0046620)|response to endoplasmic reticulum stress (GO:0034976)|spermatogenesis (GO:0007283)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|thymocyte apoptotic process (GO:0070242)|thymus development (GO:0048538)|tube formation (GO:0035148)	BIM-BCL-2 complex (GO:0097141)|BIM-BCL-xl complex (GO:0097140)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|mitochondrial outer membrane (GO:0005741)				endometrium(4)|large_intestine(3)|lung(2)|prostate(2)	11						AGGTATTTTTGAATAATTACC	0.443																																						dbGAP											0													93.0	88.0	90.0					2																	111921718		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF032458	CCDS2089.1, CCDS2092.1, CCDS42731.1, CCDS56131.1, CCDS56132.1, CCDS56133.1, CCDS56134.1, CCDS56135.1, CCDS56136.1, CCDS74560.1, CCDS74561.1, CCDS74559.1	2q13	2014-09-17			ENSG00000153094	ENSG00000153094			994	protein-coding gene	gene with protein product		603827				9731710, 9430630	Standard	NM_006538		Approved	BOD, BimL, BimEL, BimS, BIM	uc002tgv.1	O43521	OTTHUMG00000131256	ENST00000393256.3:c.507G>A	2.37:g.111921718G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2W2|O43522|Q0MSE7|Q0MSE8|Q0MSE9|Q53R28|Q6JTU6|Q6T851|Q6TE14|Q6TE15|Q6TE16|Q6V402|Q8WYL6|Q8WYL7|Q8WYL8|Q8WYL9|Q8WYM0|Q8WYM1	Silent	SNP	pfam_Bcl-x_interacting,pfam_Apoptosis_Bim_N,pirsf_Bcl-2-like_11	p.L169	ENST00000393256.3	37	c.507	CCDS2089.1	2																																																																																			BCL2L11	-	pirsf_Bcl-2-like_11	ENSG00000153094		0.443	BCL2L11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCL2L11	HGNC	protein_coding	OTTHUMT00000254022.3	70	0.00	0	G			111921718	111921718	+1	no_errors	ENST00000393256	ensembl	human	known	69_37n	silent	73	14.12	12	SNP	0.704	A
BCL2L13	23786	genome.wustl.edu	37	22	18138517	18138517	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:18138517G>A	ENST00000317582.5	+	2	387	c.40G>A	c.(40-42)Gaa>Aaa	p.E14K	BCL2L13_ENST00000399782.1_Missense_Mutation_p.E14K|BCL2L13_ENST00000418951.2_Missense_Mutation_p.E14K|BCL2L13_ENST00000543133.1_5'UTR|BCL2L13_ENST00000538149.1_Start_Codon_SNP_p.M1I|BCL2L13_ENST00000337612.5_5'UTR|BCL2L13_ENST00000355028.3_Missense_Mutation_p.E14K|BCL2L13_ENST00000493680.1_Missense_Mutation_p.E14K	NM_015367.3	NP_056182.2	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	14					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2)	15		all_epithelial(15;0.123)		Lung(27;0.199)		ATTTCACTATGAAACAAAGTA	0.433																																						dbGAP											0													137.0	121.0	127.0					22																	18138517		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF146568	CCDS13746.1, CCDS59447.1, CCDS59448.1, CCDS74810.1, CCDS74811.1, CCDS74812.1, CCDS74813.1, CCDS74814.1	22q11	2014-03-07			ENSG00000099968	ENSG00000099968			17164	protein-coding gene	gene with protein product						11262395, 11381032	Standard	NM_015367		Approved	MIL1, BCL-RAMBO	uc002zmw.4	Q9BXK5	OTTHUMG00000150088	ENST00000317582.5:c.40G>A	22.37:g.18138517G>A	ENSP00000318883:p.Glu14Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KPE7|Q96B37|Q96IB7|Q9BY01|Q9HC05|Q9UFE0|Q9UKN3	Missense_Mutation	SNP	pfam_Bcl2_BH,pfscan_Bcl2-like_apoptosis	p.E14K	ENST00000317582.5	37	c.40	CCDS13746.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.00|17.00	3.277837|3.277837	0.59758|0.59758	.|.	.|.	ENSG00000099968|ENSG00000099968	ENST00000399782;ENST00000317582;ENST00000493680;ENST00000355028;ENST00000418951|ENST00000538149	T;T;T;T;T|T	0.04706|0.40476	3.57;3.57;3.57;3.57;3.57|1.03	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.34164|0.34164	0.0888|0.0888	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	D;D;D|P	0.76494|0.43750	0.998;0.999;0.998|0.816	D;D;D|B	0.80764|0.37267	0.994;0.991;0.994|0.245	T|T	0.24905|0.24905	-1.0147|-1.0147	10|9	0.87932|0.66056	D|D	0|0.02	-16.4805|-16.4805	16.7005|16.7005	0.85348|0.85348	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	14;14;14|1	E9PDD6;Q9BXK5;Q9BXK5-2|B7Z238	.;B2L13_HUMAN;.|.	K|I	14|1	ENSP00000382682:E14K;ENSP00000318883:E14K;ENSP00000434764:E14K;ENSP00000347133:E14K;ENSP00000410019:E14K|ENSP00000441344:M1I	ENSP00000318883:E14K|ENSP00000441344:M1I	E|M	+|+	1|3	0|0	BCL2L13|BCL2L13	16518517|16518517	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	6.003000|6.003000	0.70701|0.70701	2.664000|2.664000	0.90586|0.90586	0.591000|0.591000	0.81541|0.81541	GAA|ATG	BCL2L13	-	NULL	ENSG00000099968		0.433	BCL2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL2L13	HGNC	protein_coding	OTTHUMT00000316184.1	144	0.00	0	G	NM_015367		18138517	18138517	+1	no_errors	ENST00000317582	ensembl	human	known	69_37n	missense	139	14.20	23	SNP	1.000	A
BCL9	607	genome.wustl.edu	37	1	147084768	147084768	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:147084768C>G	ENST00000234739.3	+	5	880	c.140C>G	c.(139-141)tCc>tGc	p.S47C	BCL9_ENST00000473292.1_3'UTR	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	47					canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					TCCAAATTCTCCAATCAGGGT	0.557			T	"""IGH@, IGL@"""	B-ALL																																	dbGAP		Dom	yes		1	1q21	607	B-cell CLL/lymphoma 9		L	0													44.0	46.0	45.0					1																	147084768		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.140C>G	1.37:g.147084768C>G	ENSP00000234739:p.Ser47Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T489	Missense_Mutation	SNP	pfam_BCL9_beta-catenin-bd_dom	p.S47C	ENST00000234739.3	37	c.140	CCDS30833.1	1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.451200	0.84209	.	.	ENSG00000116128	ENST00000234739	T	0.57907	0.37	5.4	5.4	0.78164	.	0.055490	0.85682	D	0.000000	T	0.58206	0.2106	L	0.43152	1.355	0.51767	D	0.999931	D;D	0.76494	0.999;0.999	P;P	0.61328	0.887;0.887	T	0.59511	-0.7441	10	0.66056	D	0.02	-14.1473	19.366	0.94461	0.0:1.0:0.0:0.0	.	47;47	Q1JQ81;O00512	.;BCL9_HUMAN	C	47	ENSP00000234739:S47C	ENSP00000234739:S47C	S	+	2	0	BCL9	145551392	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.320000	0.79064	2.797000	0.96272	0.655000	0.94253	TCC	BCL9	-	NULL	ENSG00000116128		0.557	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9	HGNC	protein_coding	OTTHUMT00000039468.1	67	0.00	0	C	NM_004326		147084768	147084768	+1	no_errors	ENST00000234739	ensembl	human	known	69_37n	missense	44	38.89	28	SNP	1.000	G
BCLAF1	9774	genome.wustl.edu	37	6	136589442	136589442	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:136589442G>T	ENST00000531224.1	-	10	2507	c.2255C>A	c.(2254-2256)tCa>tAa	p.S752*	BCLAF1_ENST00000392348.2_Nonsense_Mutation_p.S750*|BCLAF1_ENST00000527759.1_Nonsense_Mutation_p.S750*|BCLAF1_ENST00000530767.1_Nonsense_Mutation_p.S579*|BCLAF1_ENST00000031135.9_5'UTR|BCLAF1_ENST00000527536.1_Nonsense_Mutation_p.S752*|BCLAF1_ENST00000353331.4_Nonsense_Mutation_p.S750*|BCLAF1_ENST00000529917.1_5'UTR	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	752	Poly-Ser.				apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TGAAGAGGATGAAGATCGAGA	0.338																																					Colon(142;1534 1789 5427 7063 28491)	dbGAP											0													117.0	101.0	106.0					6																	136589442		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.2255C>A	6.37:g.136589442G>T	ENSP00000435210:p.Ser752*	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Nonsense_Mutation	SNP	NULL	p.S752*	ENST00000531224.1	37	c.2255	CCDS5177.1	6	.	.	.	.	.	.	.	.	.	.	G	42	9.408784	0.99163	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348	.	.	.	4.87	4.87	0.63330	.	0.000000	0.49305	D	0.000155	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.9696	16.5507	0.84472	0.0:0.0:1.0:0.0	.	.	.	.	X	752;750;752;579;750;750	.	ENSP00000229446:S750X	S	-	2	0	BCLAF1	136631135	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.886000	0.87288	2.431000	0.82371	0.484000	0.47621	TCA	BCLAF1	-	NULL	ENSG00000029363		0.338	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCLAF1	HGNC	protein_coding	OTTHUMT00000042375.2	219	0.00	0	G	NM_014739		136589442	136589442	-1	no_errors	ENST00000531224	ensembl	human	known	69_37n	nonsense	177	10.15	20	SNP	1.000	T
BCS1L	617	genome.wustl.edu	37	2	219527991	219527991	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:219527991C>G	ENST00000431802.1	+	8	1841	c.1142C>G	c.(1141-1143)gCa>gGa	p.A381G	BCS1L_ENST00000359273.3_Missense_Mutation_p.A381G|BCS1L_ENST00000465706.1_3'UTR|BCS1L_ENST00000392111.2_Missense_Mutation_p.A381G|BCS1L_ENST00000392109.1_Missense_Mutation_p.A381G|BCS1L_ENST00000439945.1_Missense_Mutation_p.A381G|BCS1L_ENST00000412366.1_Missense_Mutation_p.A381G|BCS1L_ENST00000392110.2_Missense_Mutation_p.A381G			Q9Y276	BCS1_HUMAN	BC1 (ubiquinol-cytochrome c reductase) synthesis-like	381					mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex III assembly (GO:0034551)|mitochondrial respiratory chain complex IV assembly (GO:0033617)|mitochondrion organization (GO:0007005)	mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAGAACTTTGCAGAACATGTC	0.517																																						dbGAP											0													100.0	98.0	99.0					2																	219527991		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF026849	CCDS2419.1	2q35	2014-09-17	2012-10-12		ENSG00000074582	ENSG00000074582		"""ATPases / AAA-type"", ""Mitochondrial respiratory chain complex assembly factors"""	1020	protein-coding gene	gene with protein product	"""GRACILE syndrome"", ""Bjornstad syndrome"""	603647	"""BCS1 (yeast homolog)-like"", ""BCS1-like (yeast)"", ""BCS1-like (S. cerevisiae)"""			9878253, 17314340	Standard	NM_001079866		Approved	Hs.6719, BCS, h-BCS, BJS	uc002viq.3	Q9Y276	OTTHUMG00000133114	ENST00000431802.1:c.1142C>G	2.37:g.219527991C>G	ENSP00000413908:p.Ala381Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KTW9|Q7Z2V7	Missense_Mutation	SNP	pfam_BCS1_N,pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.A381G	ENST00000431802.1	37	c.1142	CCDS2419.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.74|15.74	2.922704|2.922704	0.52653|0.52653	.|.	.|.	ENSG00000074582|ENSG00000074582	ENST00000359273;ENST00000392109;ENST00000392110;ENST00000392111;ENST00000412366;ENST00000439945;ENST00000431802|ENST00000426649	D;D;D;D;D;D;D|.	0.88354|.	-2.37;-2.37;-2.37;-2.37;-2.37;-2.37;-2.37|.	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	0.051271|.	0.85682|.	D|.	0.000000|.	T|T	0.74061|0.74061	0.3667|0.3667	M|M	0.65320|0.65320	2|2	0.80722|0.80722	D|D	1|1	B|.	0.17268|.	0.021|.	B|.	0.17722|.	0.019|.	T|T	0.71461|0.71461	-0.4586|-0.4586	10|5	0.34782|.	T|.	0.22|.	-16.3204|-16.3204	19.1585|19.1585	0.93522|0.93522	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	381|.	Q9Y276|.	BCS1_HUMAN|.	G|W	381|162	ENSP00000352219:A381G;ENSP00000375957:A381G;ENSP00000375958:A381G;ENSP00000375959:A381G;ENSP00000406494:A381G;ENSP00000404999:A381G;ENSP00000413908:A381G|.	ENSP00000352219:A381G|.	A|C	+|+	2|3	0|2	BCS1L|BCS1L	219236235|219236235	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.841000|0.841000	0.47740|0.47740	7.494000|7.494000	0.81503|0.81503	2.759000|2.759000	0.94783|0.94783	0.561000|0.561000	0.74099|0.74099	GCA|TGC	BCS1L	-	NULL	ENSG00000074582		0.517	BCS1L-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BCS1L	HGNC	protein_coding	OTTHUMT00000336756.1	52	0.00	0	C	NM_004328		219527991	219527991	+1	no_errors	ENST00000359273	ensembl	human	known	69_37n	missense	75	17.58	16	SNP	1.000	G
BDKRB2	624	genome.wustl.edu	37	14	96707349	96707349	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:96707349G>A	ENST00000306005.3	+	3	880	c.684G>A	c.(682-684)ctG>ctA	p.L228L	BDKRB2_ENST00000542454.2_Silent_p.L201L|BDKRB2_ENST00000539359.1_Silent_p.L201L|BDKRB2_ENST00000554311.1_Silent_p.L228L|RP11-404P21.8_ENST00000553811.1_Intron	NM_000623.3	NP_000614.1	P30411	BKRB2_HUMAN	bradykinin receptor B2	228					arachidonic acid secretion (GO:0050482)|blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress by p53 class mediator (GO:1902239)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of vascular permeability (GO:0043114)|regulation of vasoconstriction (GO:0019229)|response to salt stress (GO:0009651)|smooth muscle contraction (GO:0006939)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|phosphatidylinositol phospholipase C activity (GO:0004435)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|type 1 angiotensin receptor binding (GO:0031702)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)	Icatibant(DB06196)	ACATGCTCCTGAATGTCGTGG	0.547																																						dbGAP											0													123.0	93.0	103.0					14																	96707349		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			S56772	CCDS9942.1	14q32.1-q32.2	2012-08-08				ENSG00000168398		"""GPCR / Class A : Bradykinin receptors"""	1030	protein-coding gene	gene with protein product		113503				7916737	Standard	NM_000623		Approved	BK-2	uc010avm.1	P30411		ENST00000306005.3:c.684G>A	14.37:g.96707349G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_B2_bradkn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Brdyknn_rcpt,prints_ATII_rcpt	p.L228	ENST00000306005.3	37	c.684	CCDS9942.1	14																																																																																			BDKRB2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000168398		0.547	BDKRB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	BDKRB2	HGNC	protein_coding	OTTHUMT00000413294.1	71	0.00	0	G			96707349	96707349	+1	no_errors	ENST00000306005	ensembl	human	known	69_37n	silent	43	48.19	40	SNP	0.982	A
BDKRB2	624	genome.wustl.edu	37	14	96707646	96707646	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:96707646C>T	ENST00000306005.3	+	3	1177	c.981C>T	c.(979-981)ctC>ctT	p.L327L	BDKRB2_ENST00000542454.2_Silent_p.L300L|BDKRB2_ENST00000539359.1_Silent_p.L300L|BDKRB2_ENST00000554311.1_Silent_p.L327L|RP11-404P21.8_ENST00000553811.1_Intron	NM_000623.3	NP_000614.1	P30411	BKRB2_HUMAN	bradykinin receptor B2	327					arachidonic acid secretion (GO:0050482)|blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress by p53 class mediator (GO:1902239)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of vascular permeability (GO:0043114)|regulation of vasoconstriction (GO:0019229)|response to salt stress (GO:0009651)|smooth muscle contraction (GO:0006939)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|phosphatidylinositol phospholipase C activity (GO:0004435)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|type 1 angiotensin receptor binding (GO:0031702)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)	Icatibant(DB06196)	ACAGCTGCCTCAACCCACTGG	0.587																																						dbGAP											0													78.0	68.0	71.0					14																	96707646		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			S56772	CCDS9942.1	14q32.1-q32.2	2012-08-08				ENSG00000168398		"""GPCR / Class A : Bradykinin receptors"""	1030	protein-coding gene	gene with protein product		113503				7916737	Standard	NM_000623		Approved	BK-2	uc010avm.1	P30411		ENST00000306005.3:c.981C>T	14.37:g.96707646C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_B2_bradkn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Brdyknn_rcpt,prints_ATII_rcpt	p.L327	ENST00000306005.3	37	c.981	CCDS9942.1	14																																																																																			BDKRB2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000168398		0.587	BDKRB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	BDKRB2	HGNC	protein_coding	OTTHUMT00000413294.1	51	0.00	0	C			96707646	96707646	+1	no_errors	ENST00000306005	ensembl	human	known	69_37n	silent	55	22.54	16	SNP	1.000	T
BEND2	139105	genome.wustl.edu	37	X	18198702	18198702	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:18198702G>A	ENST00000380033.4	-	9	1489	c.1357C>T	c.(1357-1359)Cgc>Tgc	p.R453C	BEND2_ENST00000380030.3_Missense_Mutation_p.R362C	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	453										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						AAAGTTGAGCGATTCATTGTG	0.398													G|||	1	0.000264901	0.0	0.0	3775	,	,		14820	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													348.0	260.0	290.0					X																	18198702		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"""BEN domain containing"""	28509	protein-coding gene	gene with protein product			"""chromosome X open reading frame 20"""	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.1357C>T	X.37:g.18198702G>A	ENSP00000369372:p.Arg453Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PFY2|Q4V9S2|Q5JXE5	Missense_Mutation	SNP	pfam_BEN_domain	p.R453C	ENST00000380033.4	37	c.1357	CCDS14184.1	X	.	.	.	.	.	.	.	.	.	.	G	3.853	-0.031355	0.07543	.	.	ENSG00000177324	ENST00000380033;ENST00000380030	T;T	0.24538	1.85;1.92	3.79	-7.59	0.01308	.	8.526380	0.00166	N	0.000000	T	0.20007	0.0481	N	0.22421	0.69	0.09310	N	1	D;B	0.63880	0.993;0.0	P;B	0.47430	0.547;0.0	T	0.51687	-0.8674	10	0.39692	T	0.17	8.1967	7.327	0.26561	0.7015:0.0952:0.1073:0.096	.	362;453	E9PFY2;Q8NDZ0	.;BEND2_HUMAN	C	453;362	ENSP00000369372:R453C;ENSP00000369369:R362C	ENSP00000369369:R362C	R	-	1	0	BEND2	18108623	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.777000	0.00187	-4.354000	0.00054	-2.181000	0.00316	CGC	BEND2	-	NULL	ENSG00000177324		0.398	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEND2	HGNC	protein_coding	OTTHUMT00000055940.1	316	0.00	0	G	NM_153346		18198702	18198702	-1	no_errors	ENST00000380033	ensembl	human	known	69_37n	missense	306	20.26	78	SNP	0.000	A
BEST3	144453	genome.wustl.edu	37	12	70049404	70049404	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:70049404G>A	ENST00000330891.5	-	10	1516	c.1290C>T	c.(1288-1290)agC>agT	p.S430S	BEST3_ENST00000553096.1_Silent_p.S324S|BEST3_ENST00000488961.1_Silent_p.S217S|BEST3_ENST00000331471.4_Intron	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	430					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			CCCTGGCTGGGCTGAGGTCAT	0.597																																						dbGAP											0													97.0	102.0	101.0					12																	70049404		2019	4190	6209	-	-	-	SO:0001819	synonymous_variant	0			AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17105	protein-coding gene	gene with protein product		607337	"""vitelliform macular dystrophy 2-like 3"""	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.1290C>T	12.37:g.70049404G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Silent	SNP	pfam_Bestrophin/UPF0187	p.S430	ENST00000330891.5	37	c.1290	CCDS8992.2	12																																																																																			BEST3	-	NULL	ENSG00000127325		0.597	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEST3	HGNC	protein_coding	OTTHUMT00000313908.2	87	0.00	0	G	NM_152439		70049404	70049404	-1	no_errors	ENST00000330891	ensembl	human	known	69_37n	silent	97	18.49	22	SNP	0.732	A
BEST3	144453	genome.wustl.edu	37	12	70072550	70072550	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:70072550C>G	ENST00000330891.5	-	5	831	c.605G>C	c.(604-606)aGa>aCa	p.R202T	BEST3_ENST00000553096.1_Missense_Mutation_p.R96T|BEST3_ENST00000488961.1_Missense_Mutation_p.R40T|BEST3_ENST00000331471.4_Missense_Mutation_p.R202T|BEST3_ENST00000476098.1_Missense_Mutation_p.R40T	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	202					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			AACACTGTCTCTGATTCTACC	0.368																																						dbGAP											0													130.0	121.0	124.0					12																	70072550		1895	4114	6009	-	-	-	SO:0001583	missense	0			AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17105	protein-coding gene	gene with protein product		607337	"""vitelliform macular dystrophy 2-like 3"""	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.605G>C	12.37:g.70072550C>G	ENSP00000332413:p.Arg202Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Missense_Mutation	SNP	pfam_Bestrophin/UPF0187	p.R202T	ENST00000330891.5	37	c.605	CCDS8992.2	12	.	.	.	.	.	.	.	.	.	.	C	17.14	3.313502	0.60414	.	.	ENSG00000127325	ENST00000331471;ENST00000488961;ENST00000330891;ENST00000553096;ENST00000476098;ENST00000552295;ENST00000548658	D;D;D;D;D;D;D	0.98493	-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96	5.6	5.6	0.85130	.	0.053239	0.85682	D	0.000000	D	0.98645	0.9546	M	0.69358	2.11	0.80722	D	1	D;D;D;B	0.76494	0.992;0.996;0.999;0.041	D;D;D;B	0.77557	0.925;0.978;0.99;0.059	D	0.98476	1.0603	10	0.23302	T	0.38	-20.37	19.6297	0.95698	0.0:1.0:0.0:0.0	.	40;202;40;202	E9PNM2;Q8N1M1;B5MDI8;Q8N1M1-1	.;BEST3_HUMAN;.;.	T	202;40;202;96;40;96;124	ENSP00000329064:R202T;ENSP00000433213:R40T;ENSP00000332413:R202T;ENSP00000449548:R96T;ENSP00000434713:R40T;ENSP00000447689:R96T;ENSP00000446575:R124T	ENSP00000332413:R202T	R	-	2	0	BEST3	68358817	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.611000	0.61162	2.644000	0.89710	0.655000	0.94253	AGA	BEST3	-	pfam_Bestrophin/UPF0187	ENSG00000127325		0.368	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEST3	HGNC	protein_coding	OTTHUMT00000313908.2	115	0.00	0	C	NM_152439		70072550	70072550	-1	no_errors	ENST00000330891	ensembl	human	known	69_37n	missense	107	27.70	41	SNP	1.000	G
BFSP1	631	genome.wustl.edu	37	20	17495393	17495393	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:17495393G>A	ENST00000377873.3	-	3	546	c.507C>T	c.(505-507)atC>atT	p.I169I	BFSP1_ENST00000544874.1_Silent_p.I30I|BFSP1_ENST00000473415.1_5'UTR|BFSP1_ENST00000536626.1_Silent_p.I30I|BFSP1_ENST00000377868.2_Silent_p.I44I	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	169	Coil 1B.|Rod.				cell maturation (GO:0048469)|lens fiber cell development (GO:0070307)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						TTGCCGCACTGATATCATCTT	0.507																																						dbGAP											0													232.0	208.0	216.0					20																	17495393		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Y16717	CCDS13126.1, CCDS54448.1, CCDS63229.1	20p12.1	2014-06-05			ENSG00000125864	ENSG00000125864		"""Intermediate filaments type VI, eye lens intermediate filaments"""	1040	protein-coding gene	gene with protein product		603307				9787085	Standard	NM_001161705		Approved	CP94, CP115, LIFL-H, filensin	uc002wpo.3	Q12934	OTTHUMG00000031940	ENST00000377873.3:c.507C>T	20.37:g.17495393G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	F5H0G1|O43595|O76034|O95676|Q8IVZ6|Q9HBX4	Silent	SNP	pfam_F,superfamily_Prefoldin	p.I169	ENST00000377873.3	37	c.507	CCDS13126.1	20																																																																																			BFSP1	-	pfam_F	ENSG00000125864		0.507	BFSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BFSP1	HGNC	protein_coding	OTTHUMT00000078119.6	105	0.00	0	G	NM_001195		17495393	17495393	-1	no_errors	ENST00000377873	ensembl	human	known	69_37n	silent	162	15.62	30	SNP	0.998	A
BHLHE22	27319	genome.wustl.edu	37	8	65494151	65494151	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:65494151G>A	ENST00000321870.1	+	1	1338	c.804G>A	c.(802-804)gtG>gtA	p.V268V	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	268	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				anterior commissure morphogenesis (GO:0021960)|cerebral cortex regionalization (GO:0021796)|corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|retinal bipolar neuron differentiation (GO:0060040)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						TGCGCGCGGTGATCCCCTACG	0.632																																					Colon(113;104 1586 2865 9855 18065)	dbGAP											0													25.0	24.0	25.0					8																	65494151		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			U80755	CCDS6179.1	8q12.1	2009-01-12	2009-01-12	2009-01-12		ENSG00000180828		"""Basic helix-loop-helix proteins"""	11963	protein-coding gene	gene with protein product		613483	"""trinucleotide repeat containing 20"", ""basic helix-loop-helix domain containing, class B, 5"""	TNRC20, BHLHB5		9225980, 12213201, 18557763	Standard	NM_152414		Approved	CAGL85, Beta3, bHLHe22	uc003xvi.3	Q8NFJ8		ENST00000321870.1:c.804G>A	8.37:g.65494151G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.V268	ENST00000321870.1	37	c.804	CCDS6179.1	8																																																																																			BHLHE22	-	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	ENSG00000180828		0.632	BHLHE22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BHLHE22	HGNC	protein_coding	OTTHUMT00000378549.1	16	0.00	0	G	NM_152414		65494151	65494151	+1	no_errors	ENST00000321870	ensembl	human	known	69_37n	silent	12	47.83	11	SNP	1.000	A
BHLHE41	79365	genome.wustl.edu	37	12	26275892	26275892	+	Missense_Mutation	SNP	G	G	C	rs376777918		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:26275892G>C	ENST00000242728.4	-	5	903	c.556C>G	c.(556-558)Ctg>Gtg	p.L186V	RP11-283G6.3_ENST00000545819.1_RNA|RP11-283G6.3_ENST00000535914.1_RNA	NM_030762.2	NP_110389.1	Q9C0J9	BHE41_HUMAN	basic helix-loop-helix family, member e41	186					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)	nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|histone deacetylase binding (GO:0042826)|MRF binding (GO:0043426)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|transcription corepressor activity (GO:0003714)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)	5						CCTTTGCTCAGAGGGACCTGT	0.711																																						dbGAP											0													13.0	18.0	16.0					12																	26275892		2169	4238	6407	-	-	-	SO:0001583	missense	0			AB044088	CCDS8706.1	12p12.1	2011-12-05	2009-01-12	2009-01-12	ENSG00000123095	ENSG00000123095		"""Basic helix-loop-helix proteins"""	16617	protein-coding gene	gene with protein product	"""differentially expressed in chondrocytes 2"", ""Enhancer-of-split and hairy-related protein 1"""	606200	"""basic helix-loop-helix domain containing, class B, 3"""	BHLHB3		11162494, 18557763	Standard	NM_030762		Approved	DEC2, SHARP-1, SHARP1, bHLHe41	uc001rhb.3	Q9C0J9	OTTHUMG00000169174	ENST00000242728.4:c.556C>G	12.37:g.26275892G>C	ENSP00000242728:p.Leu186Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A2I2N8	Missense_Mutation	SNP	pfam_HLH_DNA-bd,pfam_Orange,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_Orange_subgr,pfscan_Orange,pfscan_HLH_DNA-bd	p.L186V	ENST00000242728.4	37	c.556	CCDS8706.1	12	.	.	.	.	.	.	.	.	.	.	G	7.141	0.581883	0.13749	.	.	ENSG00000123095	ENST00000242728;ENST00000540731	T	0.55413	0.52	2.34	-1.69	0.08186	.	7.986750	0.01419	U	0.014294	T	0.29126	0.0724	N	0.08118	0	0.09310	N	0.999997	B	0.14012	0.009	B	0.10450	0.005	T	0.11421	-1.0588	10	0.15066	T	0.55	-4.8497	4.9807	0.14164	0.2538:0.2758:0.4704:0.0	.	186	Q9C0J9	BHE41_HUMAN	V	186	ENSP00000242728:L186V	ENSP00000242728:L186V	L	-	1	2	BHLHE41	26167159	0.000000	0.05858	0.001000	0.08648	0.825000	0.46686	0.162000	0.16501	-0.091000	0.12440	0.313000	0.20887	CTG	BHLHE41	-	NULL	ENSG00000123095		0.711	BHLHE41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BHLHE41	HGNC	protein_coding	OTTHUMT00000402714.1	20	0.00	0	G	NM_030762		26275892	26275892	-1	no_errors	ENST00000242728	ensembl	human	known	69_37n	missense	5	54.55	6	SNP	0.012	C
BICC1	80114	genome.wustl.edu	37	10	60560010	60560010	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:60560010G>A	ENST00000373886.3	+	13	1786	c.1782G>A	c.(1780-1782)ctG>ctA	p.L594L	BICC1_ENST00000263103.1_Silent_p.L220L	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	594					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						AAAAAGTGCTGAGTGCAAATC	0.403																																						dbGAP											0													47.0	44.0	45.0					10																	60560010		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"""Sterile alpha motif (SAM) domain containing"""	19351	protein-coding gene	gene with protein product		614295	"""bicaudal C homolog 1 (Drosophila)"""				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.1782G>A	10.37:g.60560010G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_KH_dom_type_1,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_KH_dom,smart_SAM,pfscan_SAM,pfscan_KH_dom_type_1	p.L594	ENST00000373886.3	37	c.1782	CCDS31206.1	10																																																																																			BICC1	-	NULL	ENSG00000122870		0.403	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BICC1	HGNC	protein_coding	OTTHUMT00000048150.2	45	0.00	0	G	NM_025044		60560010	60560010	+1	no_errors	ENST00000373886	ensembl	human	known	69_37n	silent	27	20.59	7	SNP	0.962	A
BIN1	274	genome.wustl.edu	37	2	127816681	127816681	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:127816681G>C	ENST00000316724.5	-	11	1319	c.908C>G	c.(907-909)tCc>tGc	p.S303C	BIN1_ENST00000357970.3_Missense_Mutation_p.S303C|BIN1_ENST00000348750.4_Missense_Mutation_p.S272C|BIN1_ENST00000409400.1_Missense_Mutation_p.S272C|BIN1_ENST00000393040.3_Missense_Mutation_p.S272C|BIN1_ENST00000376113.2_Missense_Mutation_p.S287C|BIN1_ENST00000351659.3_Missense_Mutation_p.S303C|BIN1_ENST00000466111.1_5'UTR|BIN1_ENST00000393041.3_Missense_Mutation_p.S272C|BIN1_ENST00000259238.4_Missense_Mutation_p.S287C|BIN1_ENST00000346226.3_Missense_Mutation_p.S272C|BIN1_ENST00000352848.3_Missense_Mutation_p.S287C	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	303					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|lipid tube assembly (GO:0060988)|muscle cell differentiation (GO:0042692)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of endocytosis (GO:0045807)|positive regulation of GTPase activity (GO:0043547)|regulation of cell cycle arrest (GO:0071156)|regulation of neuron differentiation (GO:0045664)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|axon initial segment (GO:0043194)|axon terminus (GO:0043679)|cerebellar mossy fiber (GO:0044300)|cytoplasm (GO:0005737)|I band (GO:0031674)|lipid tube (GO:0060987)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)|T-tubule (GO:0030315)|varicosity (GO:0043196)|Z disc (GO:0030018)	identical protein binding (GO:0042802)|tau protein binding (GO:0048156)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		GGCGGCAGGGGAGCCATCTGG	0.672																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			U68485	CCDS2137.1, CCDS2138.1, CCDS2139.1, CCDS2140.1, CCDS2141.1, CCDS2142.1, CCDS2143.1, CCDS42743.1, CCDS42744.1, CCDS46403.1	2q14	2014-09-17			ENSG00000136717	ENSG00000136717			1052	protein-coding gene	gene with protein product	"""amphiphysin II"""	601248		AMPHL		8725406, 8782822, 17676042	Standard	NM_004305		Approved	SH3P9, AMPH2	uc002tns.2	O00499	OTTHUMG00000131465	ENST00000316724.5:c.908C>G	2.37:g.127816681G>C	ENSP00000316779:p.Ser303Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	O00297|O00545|O43867|O60552|O60553|O60554|O60555|O75514|O75515|O75516|O75517|O75518|Q659B7|Q92944|Q99688	Missense_Mutation	SNP	pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_Amphiphysin,prints_Amphiphysin_2,prints_SH3_domain	p.S303C	ENST00000316724.5	37	c.908	CCDS2138.1	2	.	.	.	.	.	.	.	.	.	.	G	16.14	3.040178	0.55003	.	.	ENSG00000136717	ENST00000376113;ENST00000357970;ENST00000393040;ENST00000348750;ENST00000259238;ENST00000346226;ENST00000393041;ENST00000351659;ENST00000352848;ENST00000316724;ENST00000409400	T;T;T;T;T;T;T;T;T;T;T	0.67698	0.34;-0.28;1.03;0.36;1.03;1.03;0.34;0.28;0.29;1.03;0.31	4.95	4.95	0.65309	.	0.536199	0.20330	N	0.094454	T	0.74520	0.3727	L	0.39898	1.24	0.50039	D	0.999844	D;B;D;B;D;B;B;D;D;D;P;B;D	0.76494	0.996;0.004;0.971;0.006;0.97;0.02;0.024;0.992;0.97;0.999;0.923;0.004;0.999	P;B;P;B;P;B;B;P;P;D;P;B;D	0.68353	0.827;0.008;0.796;0.029;0.747;0.029;0.018;0.849;0.747;0.951;0.707;0.006;0.957	T	0.75875	-0.3163	10	0.56958	D	0.05	-31.5721	15.1115	0.72362	0.0:0.0:1.0:0.0	.	303;248;272;272;272;272;303;287;287;303;287;272;303	B7Z2Z2;B7Z6Y2;O00499-4;O00499-7;O00499-6;O00499-2;O00499-3;O00499-8;O00499-11;O00499-5;O00499-10;O00499-9;O00499	.;.;.;.;.;.;.;.;.;.;.;.;BIN1_HUMAN	C	287;303;272;272;287;272;272;303;287;303;272	ENSP00000365281:S287C;ENSP00000350654:S303C;ENSP00000376760:S272C;ENSP00000259237:S272C;ENSP00000259238:S287C;ENSP00000315411:S272C;ENSP00000376761:S272C;ENSP00000315388:S303C;ENSP00000315284:S287C;ENSP00000316779:S303C;ENSP00000386797:S272C	ENSP00000259238:S287C	S	-	2	0	BIN1	127533151	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.798000	0.69095	2.290000	0.77057	0.561000	0.74099	TCC	BIN1	-	NULL	ENSG00000136717		0.672	BIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIN1	HGNC	protein_coding	OTTHUMT00000254298.2	76	0.00	0	G	NM_139343		127816681	127816681	-1	no_errors	ENST00000316724	ensembl	human	known	69_37n	missense	68	18.07	15	SNP	1.000	C
BIRC2	329	genome.wustl.edu	37	11	102221586	102221586	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:102221586G>T	ENST00000227758.2	+	3	2306	c.907G>T	c.(907-909)Gat>Tat	p.D303Y	BIRC2_ENST00000527910.1_3'UTR|BIRC2_ENST00000532672.1_Missense_Mutation_p.D282Y|BIRC2_ENST00000530675.1_Missense_Mutation_p.D254Y	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	baculoviral IAP repeat containing 2	303					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein K48-linked ubiquitination (GO:1902524)|positive regulation of protein K63-linked ubiquitination (GO:1902523)|positive regulation of protein monoubiquitination (GO:1902527)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cell cycle (GO:0051726)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|regulation of transcription, DNA-templated (GO:0006355)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		TCGCAATGATGATGTCAAATG	0.333																																						dbGAP											0													312.0	291.0	298.0					11																	102221586		2203	4299	6502	-	-	-	SO:0001583	missense	0			L49431	CCDS8316.1, CCDS58169.1	11q22	2011-01-25	2011-01-25		ENSG00000110330	ENSG00000110330		"""Baculoviral IAP repeat containing"", ""RING-type (C3HC4) zinc fingers"""	590	protein-coding gene	gene with protein product	"""NFR2-TRAF signalling complex protein"", ""apoptosis inhibitor 1"""	601712	"""baculoviral IAP repeat-containing 2"""	API1		8552191, 8548810	Standard	NM_001166		Approved	cIAP1, hiap-2, MIHB, RNF48, c-IAP1	uc010ruq.3	Q13490	OTTHUMG00000167325	ENST00000227758.2:c.907G>T	11.37:g.102221586G>T	ENSP00000227758:p.Asp303Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E026|Q16516|Q4TTG0	Missense_Mutation	SNP	pfam_BIR,pfam_CARD,superfamily_DEATH-like,smart_BIR,smart_CARD,smart_Znf_RING,pfscan_CARD,pfscan_BIR,pfscan_Znf_RING	p.D303Y	ENST00000227758.2	37	c.907	CCDS8316.1	11	.	.	.	.	.	.	.	.	.	.	G	23.4	4.414684	0.83449	.	.	ENSG00000110330	ENST00000530675;ENST00000227758;ENST00000541741;ENST00000532672	T;T;T	0.72167	-0.63;-0.63;-0.63	5.86	5.86	0.93980	Baculoviral inhibition of apoptosis protein repeat (5);	0.000000	0.85682	D	0.000000	T	0.80654	0.4664	L	0.41710	1.295	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80808	-0.1217	10	0.66056	D	0.02	-5.9551	20.2019	0.98263	0.0:0.0:1.0:0.0	.	303	Q13490	BIRC2_HUMAN	Y	254;303;303;282	ENSP00000431723:D254Y;ENSP00000227758:D303Y;ENSP00000434979:D282Y	ENSP00000227758:D303Y	D	+	1	0	BIRC2	101726796	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.476000	0.97823	2.776000	0.95493	0.655000	0.94253	GAT	BIRC2	-	pfam_BIR,smart_BIR,pfscan_BIR	ENSG00000110330		0.333	BIRC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BIRC2	HGNC	protein_coding	OTTHUMT00000394170.1	339	0.29	1	G	NM_001166		102221586	102221586	+1	no_errors	ENST00000227758	ensembl	human	known	69_37n	missense	254	20.06	64	SNP	1.000	T
BIRC6	57448	genome.wustl.edu	37	2	32770731	32770731	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:32770731C>T	ENST00000421745.2	+	63	12748	c.12614C>T	c.(12613-12615)tCa>tTa	p.S4205L		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4205					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)					CAATCTCCATCAGCCAATGTG	0.393																																					Pancreas(94;175 1509 16028 18060 45422)	dbGAP											0													257.0	242.0	247.0					2																	32770731		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.12614C>T	2.37:g.32770731C>T	ENSP00000393596:p.Ser4205Leu	Somatic		WXS	Illumina GAIIx	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.S4205L	ENST00000421745.2	37	c.12614	CCDS33175.2	2	.	.	.	.	.	.	.	.	.	.	C	15.06	2.720628	0.48728	.	.	ENSG00000115760	ENST00000421745	T	0.73152	-0.72	5.33	5.33	0.75918	.	0.000000	0.64402	D	0.000001	T	0.63593	0.2524	N	0.02916	-0.46	0.80722	D	1	D	0.57899	0.981	D	0.69824	0.966	T	0.60934	-0.7164	10	0.02654	T	1	.	19.0814	0.93185	0.0:1.0:0.0:0.0	.	4205	Q9NR09	BIRC6_HUMAN	L	4205	ENSP00000393596:S4205L	ENSP00000393596:S4205L	S	+	2	0	BIRC6	32624235	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.815000	0.86186	2.487000	0.83934	0.586000	0.80456	TCA	BIRC6	-	NULL	ENSG00000115760		0.393	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC6	HGNC	protein_coding	OTTHUMT00000318769.3	177	0.00	0	C	NM_016252		32770731	32770731	+1	no_errors	ENST00000421745	ensembl	human	known	69_37n	missense	103	27.46	39	SNP	1.000	T
BIRC6	57448	genome.wustl.edu	37	2	32800342	32800342	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:32800342G>A	ENST00000421745.2	+	66	13398	c.13264G>A	c.(13264-13266)Gag>Aag	p.E4422K		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4422					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)					GAACGGTGAAGAGGAAGAAGA	0.458																																					Pancreas(94;175 1509 16028 18060 45422)	dbGAP											0													172.0	169.0	170.0					2																	32800342		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.13264G>A	2.37:g.32800342G>A	ENSP00000393596:p.Glu4422Lys	Somatic		WXS	Illumina GAIIx	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.E4422K	ENST00000421745.2	37	c.13264	CCDS33175.2	2	.	.	.	.	.	.	.	.	.	.	G	22.8	4.339457	0.81911	.	.	ENSG00000115760	ENST00000421745	T	0.74209	-0.82	5.7	5.7	0.88788	.	0.119337	0.56097	D	0.000032	T	0.63200	0.2491	L	0.29908	0.895	0.58432	D	0.999999	P	0.38827	0.649	B	0.36186	0.219	T	0.61377	-0.7075	10	0.08381	T	0.77	.	19.8385	0.96670	0.0:0.0:1.0:0.0	.	4422	Q9NR09	BIRC6_HUMAN	K	4422	ENSP00000393596:E4422K	ENSP00000393596:E4422K	E	+	1	0	BIRC6	32653846	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.876000	0.87215	2.701000	0.92244	0.655000	0.94253	GAG	BIRC6	-	NULL	ENSG00000115760		0.458	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC6	HGNC	protein_coding	OTTHUMT00000318769.3	99	0.00	0	G	NM_016252		32800342	32800342	+1	no_errors	ENST00000421745	ensembl	human	known	69_37n	missense	73	17.05	15	SNP	1.000	A
BLM	641	genome.wustl.edu	37	15	91293048	91293048	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:91293048C>G	ENST00000355112.3	+	3	668	c.550C>G	c.(550-552)Cag>Gag	p.Q184E	BLM_ENST00000560509.1_Missense_Mutation_p.Q184E	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	184					alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			AAGCACTGCTCAGAAATCAAA	0.383			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																													dbGAP	yes	Rec		Bloom Syndrome	15	15q26.1	641	Bloom Syndrome		"""L, E"""	0													63.0	61.0	62.0					15																	91293048		2198	4298	6496	-	-	-	SO:0001583	missense	0	Familial Cancer Database		U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"""Bloom syndrome"""			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.550C>G	15.37:g.91293048C>G	ENSP00000347232:p.Gln184Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q52M96	Missense_Mutation	SNP	pfam_RQC_domain,pfam_BDHCT,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/RNaseD_C,superfamily_HRDC-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_Helicase/RNaseD_C,pfscan_Helicase/RNaseD_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.Q184E	ENST00000355112.3	37	c.550	CCDS10363.1	15	.	.	.	.	.	.	.	.	.	.	C	19.34	3.807928	0.70797	.	.	ENSG00000197299	ENST00000355112	T	0.44083	0.93	6.01	5.09	0.68999	.	0.297078	0.32055	N	0.006653	T	0.32852	0.0843	L	0.34521	1.04	0.30934	N	0.726579	B;B	0.29378	0.243;0.243	B;B	0.28991	0.097;0.097	T	0.33085	-0.9882	10	0.33141	T	0.24	-12.2321	12.8489	0.57846	0.1623:0.8377:0.0:0.0	.	184;184	B2RAN0;P54132	.;BLM_HUMAN	E	184	ENSP00000347232:Q184E	ENSP00000347232:Q184E	Q	+	1	0	BLM	89094052	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.676000	0.46883	1.531000	0.49152	0.650000	0.86243	CAG	BLM	-	NULL	ENSG00000197299		0.383	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLM	HGNC	protein_coding	OTTHUMT00000313495.1	63	0.00	0	C			91293048	91293048	+1	no_errors	ENST00000355112	ensembl	human	known	69_37n	missense	48	26.15	17	SNP	1.000	G
BMP15	9210	genome.wustl.edu	37	X	50659264	50659264	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:50659264C>T	ENST00000252677.3	+	2	836	c.836C>T	c.(835-837)tCt>tTt	p.S279F		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	279					female gamete generation (GO:0007292)|granulosa cell development (GO:0060016)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					GTTACTGCCTCTTCCTCAAAA	0.517																																						dbGAP											0													82.0	72.0	76.0					X																	50659264		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF082349	CCDS14334.1	Xp11.2	2013-02-06			ENSG00000130385	ENSG00000130385		"""Bone morphogenetic proteins"""	1068	protein-coding gene	gene with protein product		300247				9849956	Standard	NM_005448		Approved	GDF9B	uc011mnw.2	O95972	OTTHUMG00000021525	ENST00000252677.3:c.836C>T	X.37:g.50659264C>T	ENSP00000252677:p.Ser279Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RM6|Q5JST1|Q9UMS1	Missense_Mutation	SNP	pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu	p.S279F	ENST00000252677.3	37	c.836	CCDS14334.1	X	.	.	.	.	.	.	.	.	.	.	c	0.003	-2.398207	0.00198	.	.	ENSG00000130385	ENST00000252677	T	0.79845	-1.31	5.0	3.04	0.35103	Transforming growth factor-beta, C-terminal (1);	0.953173	0.08941	N	0.871597	T	0.68329	0.2989	L	0.29908	0.895	0.09310	N	1	B	0.13594	0.008	B	0.10450	0.005	T	0.55598	-0.8116	10	0.38643	T	0.18	.	4.7265	0.12943	0.4136:0.4788:0.0:0.1076	.	279	O95972	BMP15_HUMAN	F	279	ENSP00000252677:S279F	ENSP00000252677:S279F	S	+	2	0	BMP15	50676004	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	0.155000	0.16362	1.083000	0.41159	-0.301000	0.09380	TCT	BMP15	-	NULL	ENSG00000130385		0.517	BMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP15	HGNC	protein_coding	OTTHUMT00000056572.1	86	0.00	0	C	NM_005448		50659264	50659264	+1	no_errors	ENST00000252677	ensembl	human	known	69_37n	missense	76	13.64	12	SNP	0.000	T
BMPR1B	658	genome.wustl.edu	37	4	96046217	96046217	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:96046217G>A	ENST00000515059.1	+	8	813	c.530G>A	c.(529-531)aGa>aAa	p.R177K	BMPR1B_ENST00000264568.4_Missense_Mutation_p.R177K|BMPR1B_ENST00000394931.1_Missense_Mutation_p.R177K|BMPR1B_ENST00000440890.2_Missense_Mutation_p.R207K	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	177	GS. {ECO:0000255|PROSITE- ProRule:PRU00585}.				BMP signaling pathway (GO:0030509)|cartilage condensation (GO:0001502)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|eye development (GO:0001654)|inflammatory response (GO:0006954)|limb morphogenesis (GO:0035108)|ovarian cumulus expansion (GO:0001550)|ovulation cycle (GO:0042698)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell differentiation (GO:0045597)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of osteoblast differentiation (GO:0045669)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|skeletal system development (GO:0001501)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|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 receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		GAATCCCTGAGAGACTTAATT	0.418																																						dbGAP											0													75.0	73.0	73.0					4																	96046217		2203	4300	6503	-	-	-	SO:0001583	missense	0			D89675	CCDS3642.1, CCDS58919.1	4q23-q24	2008-02-05			ENSG00000138696	ENSG00000138696		"""CD molecules"""	1077	protein-coding gene	gene with protein product		603248				8140412, 9730621	Standard	NM_001203		Approved	ALK6, CDw293	uc031sgn.1	O00238	OTTHUMG00000130991	ENST00000515059.1:c.530G>A	4.37:g.96046217G>A	ENSP00000426617:p.Arg177Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R953|B4DSV1|P78366	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,prints_Activin_II/TGFBeta-II_recpt	p.R207K	ENST00000515059.1	37	c.620	CCDS3642.1	4	.	.	.	.	.	.	.	.	.	.	G	4.960	0.178259	0.09443	.	.	ENSG00000138696	ENST00000515059;ENST00000512312;ENST00000509540;ENST00000440890;ENST00000264568;ENST00000394931	D;D;D;D;D;D	0.93488	-3.23;-3.23;-3.23;-3.23;-3.23;-3.23	5.56	3.58	0.41010	Protein kinase-like domain (1);TGF beta receptor, GS motif (3);	0.094359	0.64402	N	0.000001	T	0.77343	0.4116	N	0.03983	-0.305	0.30283	N	0.791089	B	0.02656	0.0	B	0.04013	0.001	T	0.67719	-0.5598	10	0.02654	T	1	.	4.2203	0.10554	0.4697:0.0:0.5303:0.0	.	177	O00238	BMR1B_HUMAN	K	177;177;177;207;177;177	ENSP00000426617:R177K;ENSP00000425444:R177K;ENSP00000421671:R177K;ENSP00000401907:R207K;ENSP00000264568:R177K;ENSP00000378389:R177K	ENSP00000264568:R177K	R	+	2	0	BMPR1B	96265240	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	4.598000	0.61069	1.351000	0.45789	0.557000	0.71058	AGA	BMPR1B	-	pfam_TGF_beta_rcpt_GS,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS	ENSG00000138696		0.418	BMPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMPR1B	HGNC	protein_coding	OTTHUMT00000253609.3	53	0.00	0	G	NM_001203		96046217	96046217	+1	no_errors	ENST00000440890	ensembl	human	known	69_37n	missense	13	64.86	24	SNP	1.000	A
RP11-464F9.1	0	genome.wustl.edu	37	10	75487222	75487222	+	RNA	SNP	T	T	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:75487222T>C	ENST00000399449.3	-	0	255				BMS1P4_ENST00000584747.1_RNA|RP11-574K11.28_ENST00000580790.1_RNA																							GATGCTTTTTTGTCTTCAAAT	0.363																																						dbGAP											0																																										-	-	-			0																															10.37:g.75487222T>C		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000399449.3	37	NULL		10																																																																																			RP11-464F9.1	-	-	ENSG00000242288		0.363	RP11-464F9.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	BMS1P4	Clone_based_vega_gene	processed_transcript	OTTHUMT00000048674.2	20	0.00	0	T			75487222	75487222	-1	no_errors	ENST00000399449	ensembl	human	known	69_37n	rna	9	57.14	12	SNP	0.997	C
BMX	660	genome.wustl.edu	37	X	15544190	15544190	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:15544190G>T	ENST00000357607.2	+	9	1044	c.856G>T	c.(856-858)Gaa>Taa	p.E286*	BMX_ENST00000348343.6_Nonsense_Mutation_p.E286*|BMX_ENST00000342014.6_Nonsense_Mutation_p.E286*			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	286	Poly-Glu.				apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)|signal transduction (GO:0007165)	cytosol (GO:0005829)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					AAGTTCATCTGAAGAAGAGGA	0.383																																						dbGAP											0													144.0	129.0	134.0					X																	15544190		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF045459	CCDS14168.1	Xp22.2	2013-05-14			ENSG00000102010	ENSG00000102010		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1079	protein-coding gene	gene with protein product	"""BTK-like on X chromosome"""	300101				7970727	Standard	NM_203281		Approved	ETK, PSCTK3	uc004cwx.4	P51813	OTTHUMG00000021180	ENST00000357607.2:c.856G>T	X.37:g.15544190G>T	ENSP00000350224:p.Glu286*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NIH9|O60564|Q12871	Nonsense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_Pleckstrin_homology,pfam_Znf_Btk_motif,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_Znf_Btk_motif,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_cat_dom	p.E286*	ENST00000357607.2	37	c.856	CCDS14168.1	X	.	.	.	.	.	.	.	.	.	.	G	38	7.246568	0.98161	.	.	ENSG00000102010	ENST00000357607;ENST00000348343;ENST00000342014	.	.	.	5.55	5.55	0.83447	.	0.176492	0.39909	N	0.001225	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	14.9938	0.71415	0.0:0.0:1.0:0.0	.	.	.	.	X	286	.	ENSP00000340082:E286X	E	+	1	0	BMX	15454111	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	4.549000	0.60726	2.565000	0.86533	0.600000	0.82982	GAA	BMX	-	NULL	ENSG00000102010		0.383	BMX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	BMX	HGNC	protein_coding	OTTHUMT00000055877.1	177	0.00	0	G	NM_001721		15544190	15544190	+1	no_errors	ENST00000342014	ensembl	human	known	69_37n	nonsense	134	20.71	35	SNP	1.000	T
BOC	91653	genome.wustl.edu	37	3	112969482	112969482	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:112969482G>T	ENST00000495514.1	+	4	882	c.178G>T	c.(178-180)Gaa>Taa	p.E60*	BOC_ENST00000484034.1_Nonsense_Mutation_p.E60*|BOC_ENST00000273395.4_Nonsense_Mutation_p.E60*|BOC_ENST00000355385.3_Nonsense_Mutation_p.E60*|BOC_ENST00000485230.1_Nonsense_Mutation_p.E60*			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	60	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			CTGCGTGGTGGAACCTCCAAG	0.597																																						dbGAP											0													144.0	136.0	139.0					3																	112969482		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17173	protein-coding gene	gene with protein product	"""brother of CDO"", ""brother of CDON"", ""cell adhesion associated, oncogene regulated 2"""	608708	"""Boc homolog (mouse)"""			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.178G>T	3.37:g.112969482G>T	ENSP00000418663:p.Glu60*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Nonsense_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.E60*	ENST00000495514.1	37	c.178	CCDS2971.1	3	.	.	.	.	.	.	.	.	.	.	g	18.62	3.664012	0.67700	.	.	ENSG00000144857	ENST00000464546;ENST00000495514;ENST00000485230;ENST00000273395;ENST00000355385;ENST00000484034	.	.	.	5.78	5.78	0.91487	.	0.196730	0.44285	D	0.000474	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	20.025	0.97521	0.0:0.0:1.0:0.0	.	.	.	.	X	60	.	ENSP00000273395:E60X	E	+	1	0	BOC	114452172	1.000000	0.71417	0.989000	0.46669	0.017000	0.09413	3.874000	0.56101	2.730000	0.93505	0.651000	0.88453	GAA	BOC	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000144857		0.597	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BOC	HGNC	protein_coding	OTTHUMT00000354485.3	78	0.00	0	G	NM_033254		112969482	112969482	+1	no_errors	ENST00000273395	ensembl	human	known	69_37n	nonsense	129	13.42	20	SNP	1.000	T
BOC	91653	genome.wustl.edu	37	3	112969740	112969740	+	Intron	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:112969740G>A	ENST00000495514.1	+	4	1080				BOC_ENST00000484034.1_Missense_Mutation_p.E146K|BOC_ENST00000273395.4_Intron|BOC_ENST00000355385.3_Intron|BOC_ENST00000485230.1_Missense_Mutation_p.E146K			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			CTCCCACCCTGAAGCCCCCAC	0.552																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17173	protein-coding gene	gene with protein product	"""brother of CDO"", ""brother of CDON"", ""cell adhesion associated, oncogene regulated 2"""	608708	"""Boc homolog (mouse)"""			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.376+60G>A	3.37:g.112969740G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Missense_Mutation	SNP	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E146K	ENST00000495514.1	37	c.436	CCDS2971.1	3	.	.	.	.	.	.	.	.	.	.	g	13.95	2.389341	0.42410	.	.	ENSG00000144857	ENST00000485230;ENST00000484034	T;T	0.53423	0.62;0.62	4.68	-7.38	0.01407	.	.	.	.	.	T	0.21387	0.0515	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15954	-1.0419	7	.	.	.	.	3.5918	0.07991	0.0805:0.2338:0.3023:0.3833	.	146	Q96DN7	.	K	146	ENSP00000420154:E146K;ENSP00000417337:E146K	.	E	+	1	0	BOC	114452430	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.346000	0.07760	-1.472000	0.01883	-0.701000	0.03672	GAA	BOC	-	NULL	ENSG00000144857		0.552	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BOC	HGNC	protein_coding	OTTHUMT00000354485.3	15	0.00	0	G	NM_033254		112969740	112969740	+1	no_errors	ENST00000484034	ensembl	human	putative	69_37n	missense	16	30.43	7	SNP	0.000	A
BOC	91653	genome.wustl.edu	37	3	112987229	112987229	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:112987229G>C	ENST00000495514.1	+	5	1164	c.460G>C	c.(460-462)Gag>Cag	p.E154Q	BOC_ENST00000273395.4_Missense_Mutation_p.E154Q|BOC_ENST00000355385.3_Missense_Mutation_p.E154Q			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	154	Ig-like C2-type 2.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			CCACCTGCCTGAGAGCCACCC	0.577																																						dbGAP											0													112.0	92.0	98.0					3																	112987229		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17173	protein-coding gene	gene with protein product	"""brother of CDO"", ""brother of CDON"", ""cell adhesion associated, oncogene regulated 2"""	608708	"""Boc homolog (mouse)"""			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.460G>C	3.37:g.112987229G>C	ENSP00000418663:p.Glu154Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	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.E154Q	ENST00000495514.1	37	c.460	CCDS2971.1	3	.	.	.	.	.	.	.	.	.	.	G	28.9	4.963878	0.92791	.	.	ENSG00000144857	ENST00000495514;ENST00000498710;ENST00000273395;ENST00000355385	T;T;T	0.76709	-1.04;-1.04;-1.04	5.72	5.72	0.89469	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.81616	0.4860	L	0.39633	1.23	0.80722	D	1	B;P	0.42649	0.364;0.786	B;P	0.55011	0.434;0.766	T	0.76024	-0.3110	10	0.22706	T	0.39	.	19.8744	0.96864	0.0:0.0:1.0:0.0	.	154;154	Q9BWV1-3;Q9BWV1	.;BOC_HUMAN	Q	154;51;154;154	ENSP00000418663:E154Q;ENSP00000273395:E154Q;ENSP00000347546:E154Q	ENSP00000273395:E154Q	E	+	1	0	BOC	114469919	1.000000	0.71417	0.970000	0.41538	0.993000	0.82548	7.529000	0.81952	2.696000	0.92011	0.585000	0.79938	GAG	BOC	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000144857		0.577	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BOC	HGNC	protein_coding	OTTHUMT00000354485.3	72	0.00	0	G	NM_033254		112987229	112987229	+1	no_errors	ENST00000273395	ensembl	human	known	69_37n	missense	85	16.67	17	SNP	1.000	C
BOD1L1	259282	genome.wustl.edu	37	4	13578477	13578477	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:13578477C>G	ENST00000040738.5	-	25	9158	c.9023G>C	c.(9022-9024)aGa>aCa	p.R3008T		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	3008						nucleus (GO:0005634)	DNA binding (GO:0003677)										AGCCTCTGATCTGGTGGTGGA	0.522																																						dbGAP											0													176.0	157.0	163.0					4																	13578477		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.9023G>C	4.37:g.13578477C>G	ENSP00000040738:p.Arg3008Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	NULL	p.R3008T	ENST00000040738.5	37	c.9023	CCDS3411.2	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.7|20.7	4.028895|4.028895	0.75504|0.75504	.|.	.|.	ENSG00000038219|ENSG00000038219	ENST00000507943|ENST00000040738	.|T	.|0.23950	.|1.88	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	.|0.097572	.|0.45606	.|D	.|0.000353	T|T	0.42381|0.42381	0.1200|0.1200	L|L	0.36672|0.36672	1.1|1.1	0.44061|0.44061	D|D	0.996806|0.996806	.|D	.|0.76494	.|0.999	.|D	.|0.80764	.|0.994	T|T	0.09751|0.09751	-1.0660|-1.0660	5|10	.|0.41790	.|T	.|0.15	-8.7752|-8.7752	17.6069|17.6069	0.88040|0.88040	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|3008	.|Q8NFC6	.|BOD1L_HUMAN	H|T	117|3008	.|ENSP00000040738:R3008T	.|ENSP00000040738:R3008T	D|R	-|-	1|2	0|0	BOD1L|BOD1L	13187575|13187575	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.937000|0.937000	0.57800|0.57800	4.770000|4.770000	0.62309|0.62309	2.598000|2.598000	0.87819|0.87819	0.655000|0.655000	0.94253|0.94253	GAT|AGA	BOD1L1	-	NULL	ENSG00000038219		0.522	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1L1	HGNC	protein_coding	OTTHUMT00000207321.1	155	0.00	0	C	NM_148894		13578477	13578477	-1	no_errors	ENST00000040738	ensembl	human	known	69_37n	missense	120	23.57	37	SNP	1.000	G
BOK	666	genome.wustl.edu	37	2	242501813	242501813	+	Nonsense_Mutation	SNP	C	C	T	rs148098112		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:242501813C>T	ENST00000318407.3	+	3	573	c.271C>T	c.(271-273)Cag>Tag	p.Q91*		NM_032515.4	NP_115904.1	Q9UMX3	BOK_HUMAN	BCL2-related ovarian killer	91					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cell proliferation (GO:0008283)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male gonad development (GO:0008584)|neuron apoptotic process (GO:0051402)|oligodendrocyte differentiation (GO:0048709)|positive regulation of apoptotic process (GO:0043065)|positive regulation of execution phase of apoptosis (GO:1900119)	cytoplasm (GO:0005737)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			large_intestine(1)|lung(3)|ovary(1)	5		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.04e-33)|all cancers(36;7.87e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.52e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.64e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0835)		CGTGGCGCGTCAGCTGCACAT	0.642																																						dbGAP											0													114.0	83.0	93.0					2																	242501813		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF174487	CCDS2550.1	2q37.3	2008-05-22			ENSG00000176720	ENSG00000176720			1087	protein-coding gene	gene with protein product		605404				9356461, 11034351, 15102863	Standard	NM_032515		Approved	BCL2L9, BOKL, MGC4631	uc002wbq.3	Q9UMX3	OTTHUMG00000133411	ENST00000318407.3:c.271C>T	2.37:g.242501813C>T	ENSP00000314132:p.Gln91*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_Bcl2_BH,smart_Bcl2_BH,pfscan_Bcl2-like_apoptosis,prints_Bcl2_BH	p.Q91*	ENST00000318407.3	37	c.271	CCDS2550.1	2	.	.	.	.	.	.	.	.	.	.	C	37	6.189321	0.97362	.	.	ENSG00000176720	ENST00000318407	.	.	.	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-28.5459	18.2203	0.89899	0.0:1.0:0.0:0.0	.	.	.	.	X	91	.	ENSP00000314132:Q91X	Q	+	1	0	BOK	242150486	1.000000	0.71417	0.953000	0.39169	0.146000	0.21551	7.175000	0.77632	2.283000	0.76528	0.655000	0.94253	CAG	BOK	-	pfam_Bcl2_BH,smart_Bcl2_BH,pfscan_Bcl2-like_apoptosis	ENSG00000176720		0.642	BOK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOK	HGNC	protein_coding	OTTHUMT00000257268.2	22	0.00	0	C	NM_032515		242501813	242501813	+1	no_errors	ENST00000318407	ensembl	human	known	69_37n	nonsense	25	34.21	13	SNP	1.000	T
BPTF	2186	genome.wustl.edu	37	17	65928070	65928070	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:65928070G>C	ENST00000321892.4	+	20	6633	c.6572G>C	c.(6571-6573)aGa>aCa	p.R2191T	BPTF_ENST00000306378.6_Missense_Mutation_p.R2065T|BPTF_ENST00000335221.5_Missense_Mutation_p.R2191T|BPTF_ENST00000424123.3_Missense_Mutation_p.R2052T			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2191					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			ACCGTGATTAGAACACCACTC	0.373																																						dbGAP											0													118.0	100.0	106.0					17																	65928070		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.6572G>C	17.37:g.65928070G>C	ENSP00000315454:p.Arg2191Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.R2191T	ENST00000321892.4	37	c.6572		17	.	.	.	.	.	.	.	.	.	.	G	20.0	3.930798	0.73327	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	T;T;T	0.70045	-0.4;-0.39;-0.45	5.47	5.47	0.80525	.	.	.	.	.	T	0.75722	0.3888	L	0.34521	1.04	0.80722	D	1	D;D	0.67145	0.994;0.996	D;D	0.77557	0.919;0.99	T	0.77672	-0.2500	9	0.66056	D	0.02	-14.153	19.3315	0.94291	0.0:0.0:1.0:0.0	.	2065;2191	Q12830-2;Q12830-4	.;.	T	2065;2191;2191	ENSP00000307208:R2065T;ENSP00000334351:R2191T;ENSP00000315454:R2191T	ENSP00000307208:R2065T	R	+	2	0	BPTF	63358532	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.911000	0.92721	2.577000	0.86979	0.557000	0.71058	AGA	BPTF	-	NULL	ENSG00000171634		0.373	BPTF-201	KNOWN	basic	protein_coding	BPTF	HGNC	protein_coding		86	0.00	0	G	NM_182641, NM_004459		65928070	65928070	+1	no_errors	ENST00000321892	ensembl	human	known	69_37n	missense	120	11.76	16	SNP	1.000	C
BRAF	673	genome.wustl.edu	37	7	140481463	140481463	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:140481463C>T	ENST00000288602.6	-	11	1405	c.1345G>A	c.(1345-1347)Gat>Aat	p.D449N		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	449					activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	ATCTCCCAATCATCACTCGAG	0.393		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	dbGAP		Dom	yes		7	7q34	673	v-raf murine sarcoma viral oncogene homolog B1	yes	E	0													142.0	125.0	131.0					7																	140481463		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	CFC, CFCS	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1345G>A	7.37:g.140481463C>T	ENSP00000288602:p.Asp449Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd	p.D449N	ENST00000288602.6	37	c.1345	CCDS5863.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.38|16.38	3.106805|3.106805	0.56291|0.56291	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.98968|.	-5.28|.	5.76|5.76	5.76|5.76	0.90799|0.90799	Protein kinase-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73505|0.73505	0.3595|0.3595	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	D|.	0.58970|.	0.984|.	P|.	0.53006|.	0.715|.	T|T	0.69503|0.69503	-0.5128|-0.5128	10|5	0.12766|.	T|.	0.61|.	.|.	19.975|19.975	0.97300|0.97300	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	449|.	P15056|.	BRAF_HUMAN|.	N|I	449|56	ENSP00000288602:D449N|.	ENSP00000288602:D449N|.	D|M	-|-	1|3	0|0	BRAF|BRAF	140127932|140127932	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	4.893000|4.893000	0.63199|0.63199	2.724000|2.724000	0.93272|0.93272	0.585000|0.585000	0.79938|0.79938	GAT|ATG	BRAF	-	superfamily_Kinase-like_dom	ENSG00000157764		0.393	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRAF	HGNC	protein_coding	OTTHUMT00000348886.1	122	0.00	0	C	NM_004333		140481463	140481463	-1	no_errors	ENST00000288602	ensembl	human	known	69_37n	missense	95	17.39	20	SNP	1.000	T
BRCA2	675	genome.wustl.edu	37	13	32910551	32910551	+	Missense_Mutation	SNP	G	G	C	rs587782780		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr13:32910551G>C	ENST00000380152.3	+	11	2292	c.2059G>C	c.(2059-2061)Gat>Cat	p.D687H	BRCA2_ENST00000544455.1_Missense_Mutation_p.D687H			P51587	BRCA2_HUMAN	breast cancer 2, early onset	687	Interaction with NPM1.				brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TCAGGATCTTGATTATAAAGA	0.348			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	dbGAP	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"""L, E"""	0													41.0	43.0	43.0					13																	32910551		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.2059G>C	13.37:g.32910551G>C	ENSP00000369497:p.Asp687His	Somatic		WXS	Illumina GAIIx	Phase_IV	O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold-like,pirsf_DNA_recomb/repair_BRCA2,pfscan_BRCA2_repeat	p.D687H	ENST00000380152.3	37	c.2059	CCDS9344.1	13	.	.	.	.	.	.	.	.	.	.	G	13.90	2.375066	0.42105	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.67698	-0.28;-0.28	5.29	0.678	0.17969	.	0.578064	0.16576	N	0.208401	T	0.54791	0.1880	M	0.63428	1.95	0.09310	N	1	P	0.40476	0.718	B	0.36808	0.233	T	0.50127	-0.8864	10	0.54805	T	0.06	.	3.3012	0.06984	0.3241:0.0:0.3853:0.2905	.	687	P51587	BRCA2_HUMAN	H	687	ENSP00000369497:D687H;ENSP00000439902:D687H	ENSP00000369497:D687H	D	+	1	0	BRCA2	31808551	0.000000	0.05858	0.102000	0.21198	0.970000	0.65996	-0.019000	0.12546	-0.248000	0.09583	0.591000	0.81541	GAT	BRCA2	-	pirsf_DNA_recomb/repair_BRCA2	ENSG00000139618		0.348	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA2	HGNC	protein_coding	OTTHUMT00000046000.2	65	0.00	0	G	NM_000059		32910551	32910551	+1	no_errors	ENST00000380152	ensembl	human	known	69_37n	missense	31	26.19	11	SNP	0.002	C
BRCA2	675	genome.wustl.edu	37	13	32911589	32911589	+	Missense_Mutation	SNP	G	G	C	rs397507655		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr13:32911589G>C	ENST00000380152.3	+	11	3330	c.3097G>C	c.(3097-3099)Gat>Cat	p.D1033H	BRCA2_ENST00000544455.1_Missense_Mutation_p.D1033H			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1033					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GTTCTTCAAAGATATTGAAGA	0.323			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	dbGAP	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"""L, E"""	0													43.0	47.0	46.0					13																	32911589		2200	4295	6495	-	-	-	SO:0001583	missense	0	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.3097G>C	13.37:g.32911589G>C	ENSP00000369497:p.Asp1033His	Somatic		WXS	Illumina GAIIx	Phase_IV	O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold-like,pirsf_DNA_recomb/repair_BRCA2,pfscan_BRCA2_repeat	p.D1033H	ENST00000380152.3	37	c.3097	CCDS9344.1	13	.	.	.	.	.	.	.	.	.	.	G	17.79	3.475917	0.63737	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.79653	-1.29;-1.29	6.04	6.04	0.98038	.	0.000000	0.64402	D	0.000002	D	0.86752	0.6008	L	0.36672	1.1	0.45076	D	0.998098	D	0.89917	1.0	D	0.97110	1.0	D	0.86899	0.2053	10	0.87932	D	0	.	20.6396	0.99537	0.0:0.0:1.0:0.0	.	1033	P51587	BRCA2_HUMAN	H	1033	ENSP00000369497:D1033H;ENSP00000439902:D1033H	ENSP00000369497:D1033H	D	+	1	0	BRCA2	31809589	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	5.645000	0.67909	2.881000	0.98747	0.650000	0.86243	GAT	BRCA2	-	pfam_BRCA2_repeat,pirsf_DNA_recomb/repair_BRCA2,pfscan_BRCA2_repeat	ENSG00000139618		0.323	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA2	HGNC	protein_coding	OTTHUMT00000046000.2	46	0.00	0	G	NM_000059		32911589	32911589	+1	no_errors	ENST00000380152	ensembl	human	known	69_37n	missense	35	14.63	6	SNP	1.000	C
BRD3	8019	genome.wustl.edu	37	9	136905274	136905274	+	Missense_Mutation	SNP	C	C	G	rs569163807	byFrequency	TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:136905274C>G	ENST00000303407.7	-	9	1710	c.1525G>C	c.(1525-1527)Gag>Cag	p.E509Q	BRD3_ENST00000473349.1_Intron|BRD3_ENST00000357885.2_Missense_Mutation_p.E509Q|BRD3_ENST00000371834.2_Missense_Mutation_p.E509Q	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	509	Lys-rich.				chromatin modification (GO:0016568)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		ttgtgcttctccttctccttc	0.547			T	C15orf55	lethal midline carcinoma of young people																																	dbGAP		Dom	yes		9	9q34	8019	bromodomain containing 3		E	0													101.0	64.0	76.0					9																	136905274		2200	4289	6489	-	-	-	SO:0001583	missense	0				CCDS6980.1	9q34	2010-12-23	2002-01-14		ENSG00000169925	ENSG00000169925			1104	protein-coding gene	gene with protein product	"""RING3-like"""	601541	"""bromodomain-containing 3"""			7584044, 8781126	Standard	NM_007371		Approved	RING3L, ORFX, KIAA0043	uc004cew.3	Q15059	OTTHUMG00000021004	ENST00000303407.7:c.1525G>C	9.37:g.136905274C>G	ENSP00000305918:p.Glu509Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.E509Q	ENST00000303407.7	37	c.1525	CCDS6980.1	9	.	.	.	.	.	.	.	.	.	.	C	8.739	0.918502	0.17982	.	.	ENSG00000169925	ENST00000303407;ENST00000540795;ENST00000371834;ENST00000357885	T;T;T	0.21932	1.98;1.98;1.98	4.02	4.02	0.46733	.	0.682368	0.13494	N	0.383791	T	0.11239	0.0274	N	0.08118	0	0.38895	D	0.95719	B;B	0.34015	0.435;0.18	B;B	0.30029	0.11;0.032	T	0.27123	-1.0083	10	0.17832	T	0.49	-11.41	15.4829	0.75542	0.0:1.0:0.0:0.0	.	509;509	Q15059-2;Q15059	.;BRD3_HUMAN	Q	509;188;509;509	ENSP00000305918:E509Q;ENSP00000360900:E509Q;ENSP00000350557:E509Q	ENSP00000305918:E509Q	E	-	1	0	BRD3	135895095	1.000000	0.71417	1.000000	0.80357	0.700000	0.40528	4.973000	0.63763	1.966000	0.57179	0.561000	0.74099	GAG	BRD3	-	NULL	ENSG00000169925		0.547	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRD3	HGNC	protein_coding	OTTHUMT00000055390.4	68	0.00	0	C	NM_007371		136905274	136905274	-1	no_errors	ENST00000303407	ensembl	human	known	69_37n	missense	42	44.00	33	SNP	1.000	G
BRD7	29117	genome.wustl.edu	37	16	50373907	50373907	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:50373907C>G	ENST00000394688.3	-	6	841	c.682G>C	c.(682-684)Gga>Cga	p.G228R	BRD7_ENST00000394689.2_Missense_Mutation_p.G228R			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	228					cell cycle (GO:0007049)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				ATTTTCATTCCTGAGTGCAAC	0.333																																						dbGAP											0													111.0	112.0	112.0					16																	50373907		2197	4298	6495	-	-	-	SO:0001583	missense	0			AF213969	CCDS10742.1, CCDS54007.1	16q12.1	2008-11-18	2002-01-14		ENSG00000166164	ENSG00000166164			14310	protein-coding gene	gene with protein product			"""bromodomain-containing 7"""			10526152, 18809673	Standard	NM_013263		Approved	CELTIX1, BP75	uc002ege.2	Q9NPI1	OTTHUMG00000133170	ENST00000394688.3:c.682G>C	16.37:g.50373907C>G	ENSP00000378180:p.Gly228Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4VC09|Q8N2L9|Q96KA4|Q9BV48|Q9UH59	Missense_Mutation	SNP	pfam_DUF3512,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.G228R	ENST00000394688.3	37	c.682	CCDS10742.1	16	.	.	.	.	.	.	.	.	.	.	C	29.4	5.003053	0.93287	.	.	ENSG00000166164	ENST00000394688;ENST00000394689	T;T	0.18657	2.2;2.2	5.31	5.31	0.75309	Bromodomain (3);	0.000000	0.85682	D	0.000000	T	0.49609	0.1567	M	0.76002	2.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.51442	-0.8705	10	0.66056	D	0.02	2.8498	18.9611	0.92678	0.0:1.0:0.0:0.0	.	228;228	Q9NPI1;Q9NPI1-2	BRD7_HUMAN;.	R	228	ENSP00000378180:G228R;ENSP00000378181:G228R	ENSP00000378180:G228R	G	-	1	0	BRD7	48931408	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.496000	0.84212	0.591000	0.81541	GGA	BRD7	-	superfamily_Bromodomain,smart_Bromodomain	ENSG00000166164		0.333	BRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BRD7	HGNC	protein_coding	OTTHUMT00000256874.3	170	0.00	0	C	NM_013263		50373907	50373907	-1	no_errors	ENST00000394689	ensembl	human	known	69_37n	missense	59	35.16	32	SNP	1.000	G
BRD9	65980	genome.wustl.edu	37	5	891869	891869	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:891869G>A	ENST00000467963.1	-	2	319	c.153C>T	c.(151-153)taC>taT	p.Y51Y	BRD9_ENST00000483173.1_5'UTR|BRD9_ENST00000388890.4_5'Flank|BRD9_ENST00000323510.4_5'Flank|TRIP13_ENST00000166345.3_5'Flank|BRD9_ENST00000435709.2_5'UTR	NM_023924.4	NP_076413.3	Q9H8M2	BRD9_HUMAN	bromodomain containing 9	51					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		lysine-acetylated histone binding (GO:0070577)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			TGTCATCATAGTAACTGGAGT	0.488																																						dbGAP											0													122.0	104.0	109.0					5																	891869		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AK023503	CCDS34127.1, CCDS34128.1, CCDS34127.2, CCDS34128.2	5p15.33	2008-02-05			ENSG00000028310	ENSG00000028310			25818	protein-coding gene	gene with protein product						12477932	Standard	NM_023924		Approved	FLJ13441	uc003jbq.3	Q9H8M2	OTTHUMG00000159258	ENST00000467963.1:c.153C>T	5.37:g.891869G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFY8|B4DMQ2|B4DR93|Q2XUS1|Q6UWU9|Q8IUS4|Q9H5Q5|Q9H7R9	Silent	SNP	pfam_DUF3512,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.Y51	ENST00000467963.1	37	c.153	CCDS34127.2	5																																																																																			BRD9	-	NULL	ENSG00000028310		0.488	BRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRD9	HGNC	protein_coding	OTTHUMT00000354113.1	104	0.00	0	G	NM_023924		891869	891869	-1	no_errors	ENST00000467963	ensembl	human	known	69_37n	silent	83	21.70	23	SNP	1.000	A
BRD8	10902	genome.wustl.edu	37	5	137488314	137488314	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:137488314C>T	ENST00000254900.5	-	21	3084	c.2713G>A	c.(2713-2715)Gag>Aag	p.E905K		NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	905					cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TCTGGATCCTCAGTTTCCCTC	0.537																																						dbGAP											0													202.0	201.0	201.0					5																	137488314		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.2713G>A	5.37:g.137488314C>T	ENSP00000254900:p.Glu905Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.E905K	ENST00000254900.5	37	c.2713	CCDS4198.1	5	.	.	.	.	.	.	.	.	.	.	C	26.5	4.743339	0.89663	.	.	ENSG00000112983	ENST00000254900;ENST00000427976	T;T	0.61158	0.95;0.13	5.39	5.39	0.77823	.	0.000000	0.40222	N	0.001158	T	0.60130	0.2245	L	0.27053	0.805	0.80722	D	1	D	0.63880	0.993	D	0.70935	0.971	T	0.50259	-0.8849	10	0.06891	T	0.86	-9.1625	16.0138	0.80422	0.0:1.0:0.0:0.0	.	905	Q9H0E9	BRD8_HUMAN	K	905;11	ENSP00000254900:E905K;ENSP00000392646:E11K	ENSP00000254900:E905K	E	-	1	0	BRD8	137516213	0.964000	0.33143	1.000000	0.80357	0.988000	0.76386	2.050000	0.41297	2.795000	0.96236	0.655000	0.94253	GAG	BRD8	-	NULL	ENSG00000112983		0.537	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRD8	HGNC	protein_coding	OTTHUMT00000251282.3	108	0.00	0	C	NM_006696		137488314	137488314	-1	no_errors	ENST00000254900	ensembl	human	known	69_37n	missense	91	18.75	21	SNP	1.000	T
BRDT	676	genome.wustl.edu	37	1	92442614	92442614	+	Silent	SNP	G	G	A	rs267598766		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:92442614G>A	ENST00000362005.3	+	7	1051	c.633G>A	c.(631-633)gtG>gtA	p.V211V	BRDT_ENST00000402388.1_Silent_p.V211V|BRDT_ENST00000399546.2_Silent_p.V211V|BRDT_ENST00000370389.2_Silent_p.V138V|BRDT_ENST00000394530.3_Silent_p.V165V	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	211					cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		CAAAAGGTGTGAAGAGGAAAG	0.353																																						dbGAP											0													45.0	44.0	44.0					1																	92442614		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"""cancer/testis antigen 9"""	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.633G>A	1.37:g.92442614G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Silent	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.V211	ENST00000362005.3	37	c.633	CCDS735.1	1																																																																																			BRDT	-	NULL	ENSG00000137948		0.353	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRDT	HGNC	protein_coding	OTTHUMT00000027980.2	57	0.00	0	G	NM_207189		92442614	92442614	+1	no_errors	ENST00000362005	ensembl	human	known	69_37n	silent	34	19.05	8	SNP	0.998	A
BRF1	2972	genome.wustl.edu	37	14	105722752	105722752	+	Intron	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:105722752G>A	ENST00000546474.1	-	4	15431				BRF1_ENST00000440513.3_Intron|BRF1_ENST00000379937.2_Intron|BRF1_ENST00000548421.1_Nonsense_Mutation_p.Q192*|BRF1_ENST00000327359.3_Intron	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit						gene expression (GO:0010467)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|tRNA transcription (GO:0009304)	nucleoplasm (GO:0005654)|transcription factor TFIIIB complex (GO:0000126)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		ACCGGCCACTGAGATGCGTGG	0.607																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			U28838	CCDS10001.1, CCDS42001.1, CCDS55949.1, CCDS55950.1, CCDS55951.1, CCDS55952.1, CCDS55953.1	14q32.33	2014-04-02	2013-05-29	2001-12-07	ENSG00000185024	ENSG00000185024		"""General transcription factors"""	11551	protein-coding gene	gene with protein product		604902	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 2"", ""BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae)"""	TAF3B2, TAF3C, GTF3B		7624363, 8943358	Standard	NM_145685		Approved	TFIIIB90, BRF, hBRF	uc001yqp.2	Q92994	OTTHUMG00000029884	ENST00000546474.1:c.471+102C>T	14.37:g.105722752G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KU36|B4DIG5|B7Z2N3|F5H5Z7|F8WA46|Q13223|Q3SYD9|Q5PR24|Q6IQ02|Q96KX3|Q9HCW6|Q9HCW7|Q9HCW8	Nonsense_Mutation	SNP	pfam_TFIIB_cyclin,pfam_Znf_TFIIB,pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pfscan_Znf_TFIIB,prints_TFIIB	p.Q192*	ENST00000546474.1	37	c.574	CCDS10001.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.2|24.2	4.510009|4.510009	0.85282|0.85282	.|.	.|.	ENSG00000185024|ENSG00000185024	ENST00000548421|ENST00000345053	.|.	.|.	.|.	1.28|1.28	-2.56|-2.56	0.06268|0.06268	.|.	.|.	.|.	.|.	.|.	.|T	.|0.33323	.|0.0859	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.37526	.|-0.9702	.|5	0.33940|0.87932	T|D	0.23|0	.|.	2.8732|2.8732	0.05623|0.05623	0.4046:0.269:0.3265:0.0|0.4046:0.269:0.3265:0.0	.|.	.|.	.|.	.|.	X|L	192|191	.|.	ENSP00000446707:Q192X|ENSP00000339442:S191L	Q|S	-|-	1|2	0|0	BRF1|BRF1	104793797|104793797	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.484000|-0.484000	0.06528|0.06528	-0.941000|-0.941000	0.03700|0.03700	-0.229000|-0.229000	0.12294|0.12294	CAG|TCA	BRF1	-	NULL	ENSG00000185024		0.607	BRF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BRF1	HGNC	protein_coding	OTTHUMT00000074548.4	32	0.00	0	G	NM_001519		105722752	105722752	-1	no_errors	ENST00000548421	ensembl	human	putative	69_37n	nonsense	28	33.33	14	SNP	0.000	A
BRWD1	54014	genome.wustl.edu	37	21	40590533	40590533	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr21:40590533C>G	ENST00000333229.2	-	30	3763	c.3436G>C	c.(3436-3438)Gag>Cag	p.E1146Q	BRWD1_ENST00000380800.3_Missense_Mutation_p.E1146Q|BRWD1-IT1_ENST00000435608.1_RNA|BRWD1_ENST00000342449.3_Missense_Mutation_p.E1146Q	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1146					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)				AGCAATTTCTCTAGCTCATCT	0.343																																					Melanoma(170;988 1986 4794 16843 39731)	dbGAP											0													123.0	110.0	114.0					21																	40590533		2203	4299	6502	-	-	-	SO:0001583	missense	0			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.3436G>C	21.37:g.40590533C>G	ENSP00000330753:p.Glu1146Gln	Somatic		WXS	Illumina GAIIx	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,prints_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E1146Q	ENST00000333229.2	37	c.3436	CCDS13662.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.12|11.12	1.543790|1.543790	0.27563|0.27563	.|.	.|.	ENSG00000185658|ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800;ENST00000380783|ENST00000424441	T;T;T|.	0.55588|.	0.51;0.53;0.61|.	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.51143|0.51143	0.1657|0.1657	N|N	0.13098|0.13098	0.295|0.295	0.80722|0.80722	D|D	1|1	B;B;D|.	0.60160|.	0.13;0.232;0.987|.	B;B;P|.	0.50082|.	0.064;0.113;0.63|.	T|T	0.46133|0.46133	-0.9213|-0.9213	10|5	0.33940|.	T|.	0.23|.	-9.5136|-9.5136	19.0965|19.0965	0.93253|0.93253	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1146;1146;1146|.	Q9NSI6-3;Q9NSI6-2;Q9NSI6|.	.;.;BRWD1_HUMAN|.	Q|T	1146;1146;1146;150|131	ENSP00000330753:E1146Q;ENSP00000344333:E1146Q;ENSP00000370178:E1146Q|.	ENSP00000330753:E1146Q|.	E|R	-|-	1|2	0|0	BRWD1|BRWD1	39512403|39512403	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.830000|0.830000	0.47004|0.47004	3.457000|3.457000	0.53007|0.53007	2.522000|2.522000	0.85027|0.85027	0.563000|0.563000	0.77884|0.77884	GAG|AGA	BRWD1	-	NULL	ENSG00000185658		0.343	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD1	HGNC	protein_coding	OTTHUMT00000141398.3	246	0.00	0	C	NM_033656		40590533	40590533	-1	no_errors	ENST00000333229	ensembl	human	known	69_37n	missense	172	23.89	54	SNP	1.000	G
BRWD3	254065	genome.wustl.edu	37	X	79985496	79985496	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:79985496C>G	ENST00000373275.4	-	13	1367	c.1151G>C	c.(1150-1152)cGa>cCa	p.R384P		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	384					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						CGTTCCATCTCGACTTCCACT	0.299													C|||	0	0.0	0.0	0.0	3775	,	,		12639	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													144.0	121.0	129.0					X																	79985496		2203	4299	6502	-	-	-	SO:0001583	missense	0				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.1151G>C	X.37:g.79985496C>G	ENSP00000362372:p.Arg384Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.R384P	ENST00000373275.4	37	c.1151	CCDS14447.1	X	.	.	.	.	.	.	.	.	.	.	C	23.1	4.375753	0.82682	.	.	ENSG00000165288	ENST00000373275	T	0.63417	-0.04	4.37	4.37	0.52481	WD40/YVTN repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.72748	0.3499	L	0.45470	1.425	0.51767	D	0.999937	D	0.76494	0.999	D	0.76575	0.988	T	0.72347	-0.4321	9	.	.	.	-4.2606	16.3826	0.83473	0.0:1.0:0.0:0.0	.	384	Q6RI45	BRWD3_HUMAN	P	384	ENSP00000362372:R384P	.	R	-	2	0	BRWD3	79872152	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.224000	0.78042	2.035000	0.60131	0.513000	0.50165	CGA	BRWD3	-	pfam_WD40_repeat,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000165288		0.299	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD3	HGNC	protein_coding	OTTHUMT00000057344.1	197	0.00	0	C	NM_153252		79985496	79985496	-1	no_errors	ENST00000373275	ensembl	human	known	69_37n	missense	115	25.81	40	SNP	1.000	G
BSCL2	26580	genome.wustl.edu	37	11	62458096	62458096	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:62458096C>T	ENST00000403550.1	-	10	1453	c.1030G>A	c.(1030-1032)Gag>Aag	p.E344K	BSCL2_ENST00000433053.1_Missense_Mutation_p.E408K|BSCL2_ENST00000421906.1_Missense_Mutation_p.E344K|BSCL2_ENST00000360796.5_Missense_Mutation_p.E408K|LRRN4CL_ENST00000317449.4_5'Flank|BSCL2_ENST00000407022.3_Missense_Mutation_p.E344K|BSCL2_ENST00000405837.1_Missense_Mutation_p.E410K|HNRNPUL2-BSCL2_ENST00000403734.2_3'UTR|BSCL2_ENST00000278893.7_3'UTR			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	344					cell death (GO:0008219)|fat cell differentiation (GO:0045444)|lipid catabolic process (GO:0016042)|lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|negative regulation of lipid catabolic process (GO:0050995)	integral component of endoplasmic reticulum membrane (GO:0030176)				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						TCACTGGCCTCAGGCTCTAGC	0.577																																						dbGAP											0													82.0	81.0	81.0					11																	62458096		2202	4299	6501	-	-	-	SO:0001583	missense	0				CCDS8031.1, CCDS44627.1, CCDS55769.1	11q13	2014-09-17	2009-07-30		ENSG00000168000	ENSG00000168000			15832	protein-coding gene	gene with protein product		606158	"""spastic paraplegia 17 (Silver syndrome)"""	GNG3LG, SPG17		11479539, 14981520	Standard	NM_001122955		Approved		uc001nur.4	Q96G97	OTTHUMG00000150624	ENST00000403550.1:c.1030G>A	11.37:g.62458096C>T	ENSP00000385561:p.Glu344Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	G3XAE4|Q567S1|Q96SV1|Q9BSQ0	Missense_Mutation	SNP	pfam_Adipose-reg_protein_Seipin	p.E408K	ENST00000403550.1	37	c.1222	CCDS8031.1	11	.	.	.	.	.	.	.	.	.	.	C	27.3	4.816011	0.90790	.	.	ENSG00000168000	ENST00000449636;ENST00000405837;ENST00000433053;ENST00000360796;ENST00000403550;ENST00000407022;ENST00000421906	D;D;D;D;D;D	0.94497	-3.44;-3.43;-3.43;-2.99;-2.99;-2.99	4.87	4.87	0.63330	.	0.142953	0.28365	U	0.015613	D	0.93858	0.8035	L	0.34521	1.04	0.34691	D	0.725756	D;D;D	0.60575	0.979;0.988;0.979	P;P;P	0.57911	0.679;0.829;0.679	D	0.95405	0.8493	10	0.45353	T	0.12	-7.9396	13.3707	0.60711	0.0:1.0:0.0:0.0	.	344;408;344	Q53EN3;G3XAE4;Q96G97	.;.;BSCL2_HUMAN	K	96;410;408;408;344;344;344	ENSP00000385332:E410K;ENSP00000414002:E408K;ENSP00000354032:E408K;ENSP00000385561:E344K;ENSP00000384080:E344K;ENSP00000413209:E344K	ENSP00000354032:E408K	E	-	1	0	BSCL2	62214672	0.938000	0.31826	0.959000	0.39883	0.991000	0.79684	2.012000	0.40932	2.513000	0.84729	0.561000	0.74099	GAG	BSCL2	-	NULL	ENSG00000168000		0.577	BSCL2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	BSCL2	HGNC	protein_coding	OTTHUMT00000319185.1	43	0.00	0	C	NM_032667		62458096	62458096	-1	no_errors	ENST00000360796	ensembl	human	known	69_37n	missense	45	36.62	26	SNP	0.977	T
BSN	8927	genome.wustl.edu	37	3	49693646	49693646	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:49693646G>T	ENST00000296452.4	+	5	6771	c.6657G>T	c.(6655-6657)atG>atT	p.M2219I		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2219					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)		TGCGGCCCATGGTGCGTGGTG	0.587																																						dbGAP											0													70.0	59.0	63.0					3																	49693646		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.6657G>T	3.37:g.49693646G>T	ENSP00000296452:p.Met2219Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	O43161|Q7LGH3	Missense_Mutation	SNP	pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD	p.M2219I	ENST00000296452.4	37	c.6657	CCDS2800.1	3	.	.	.	.	.	.	.	.	.	.	G	12.70	2.016838	0.35606	.	.	ENSG00000164061	ENST00000296452	T	0.18502	2.21	5.53	5.53	0.82687	.	0.130176	0.64402	D	0.000001	T	0.19208	0.0461	L	0.48362	1.52	0.43919	D	0.996564	P	0.39831	0.69	B	0.36666	0.23	T	0.01356	-1.1376	10	0.35671	T	0.21	-13.1809	19.454	0.94880	0.0:0.0:1.0:0.0	.	2219	Q9UPA5	BSN_HUMAN	I	2219	ENSP00000296452:M2219I	ENSP00000296452:M2219I	M	+	3	0	BSN	49668650	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.971000	0.56831	2.605000	0.88082	0.655000	0.94253	ATG	BSN	-	NULL	ENSG00000164061		0.587	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	BSN	HGNC	protein_coding	OTTHUMT00000258164.1	34	0.00	0	G	NM_003458		49693646	49693646	+1	no_errors	ENST00000296452	ensembl	human	known	69_37n	missense	28	12.50	4	SNP	1.000	T
BSN	8927	genome.wustl.edu	37	3	49694559	49694559	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:49694559G>A	ENST00000296452.4	+	5	7684	c.7570G>A	c.(7570-7572)Gag>Aag	p.E2524K		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2524					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)		GCAGCCTCGTGAGCCTGTGCT	0.622																																						dbGAP											0													44.0	43.0	44.0					3																	49694559		2203	4299	6502	-	-	-	SO:0001583	missense	0			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.7570G>A	3.37:g.49694559G>A	ENSP00000296452:p.Glu2524Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O43161|Q7LGH3	Missense_Mutation	SNP	pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD	p.E2524K	ENST00000296452.4	37	c.7570	CCDS2800.1	3	.	.	.	.	.	.	.	.	.	.	G	10.44	1.350014	0.24426	.	.	ENSG00000164061	ENST00000296452	T	0.17370	2.28	5.58	5.58	0.84498	.	0.437819	0.24549	N	0.037563	T	0.10981	0.0268	L	0.36672	1.1	0.33420	D	0.579789	P	0.44734	0.842	B	0.28849	0.095	T	0.21999	-1.0229	10	0.29301	T	0.29	-22.9081	12.4619	0.55736	0.0:0.0:0.7228:0.2772	.	2524	Q9UPA5	BSN_HUMAN	K	2524	ENSP00000296452:E2524K	ENSP00000296452:E2524K	E	+	1	0	BSN	49669563	1.000000	0.71417	0.978000	0.43139	0.942000	0.58702	4.529000	0.60588	2.640000	0.89533	0.561000	0.74099	GAG	BSN	-	NULL	ENSG00000164061		0.622	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	BSN	HGNC	protein_coding	OTTHUMT00000258164.1	27	0.00	0	G	NM_003458		49694559	49694559	+1	no_errors	ENST00000296452	ensembl	human	known	69_37n	missense	33	13.16	5	SNP	0.872	A
BST1	683	genome.wustl.edu	37	4	15733439	15733439	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:15733439C>T	ENST00000265016.4	+	9	1123	c.928C>T	c.(928-930)Ctg>Ttg	p.L310L	BST1_ENST00000382346.3_Silent_p.L325L	NM_004334.2	NP_004325.2	Q10588	BST1_HUMAN	bone marrow stromal cell antigen 1	310					humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	NAD(P)+ nucleosidase activity (GO:0050135)|NAD+ nucleosidase activity (GO:0003953)|transferase activity (GO:0016740)			central_nervous_system(1)|large_intestine(1)|lung(2)|stomach(3)|urinary_tract(1)	8						TCCCCTCTTTCTGGTGCTGGC	0.498																																						dbGAP											0													55.0	53.0	54.0					4																	15733439		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D21878	CCDS3416.1	4p15	2010-05-04			ENSG00000109743	ENSG00000109743	3.2.2.5	"""CD molecules"""	1118	protein-coding gene	gene with protein product	"""NAD(+) nucleosidase"", ""ADP-ribosyl cyclase 2"""	600387				8202488	Standard	NM_004334		Approved	CD157	uc003goh.4	Q10588	OTTHUMG00000097739	ENST00000265016.4:c.928C>T	4.37:g.15733439C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6A2|Q1XII0|Q5U0K0|Q96EN3	Silent	SNP	pfam_ADP-ribosyl_cyclase	p.L310	ENST00000265016.4	37	c.928	CCDS3416.1	4																																																																																			BST1	-	NULL	ENSG00000109743		0.498	BST1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BST1	HGNC	protein_coding	OTTHUMT00000214968.2	73	0.00	0	C	NM_004334		15733439	15733439	+1	no_errors	ENST00000265016	ensembl	human	known	69_37n	silent	37	31.48	17	SNP	0.009	T
BTBD18	643376	genome.wustl.edu	37	11	57511699	57511699	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:57511699C>G	ENST00000436147.3	-	2	2233	c.2046G>C	c.(2044-2046)tgG>tgC	p.W682C	RP11-691N7.6_ENST00000531074.1_Intron|TMX2-CTNND1_ENST00000528395.1_Intron|BTBD18_ENST00000422652.1_Missense_Mutation_p.W682C			B2RXH4	BTBDI_HUMAN	BTB (POZ) domain containing 18	682										endometrium(3)|kidney(1)	4						CCTCTGCTGTCCAGTCCACCA	0.532																																						dbGAP											0													107.0	99.0	101.0					11																	57511699		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS44603.1	11q12.1	2013-01-08			ENSG00000233436	ENSG00000233436		"""BTB/POZ domain containing"""	37214	protein-coding gene	gene with protein product							Standard	NM_001145101		Approved		uc010rjy.2	B2RXH4	OTTHUMG00000167203	ENST00000436147.3:c.2046G>C	11.37:g.57511699C>G	ENSP00000397020:p.Trp682Cys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.W682C	ENST00000436147.3	37	c.2046	CCDS44603.1	11	.	.	.	.	.	.	.	.	.	.	C	12.39	1.923461	0.33908	.	.	ENSG00000233436	ENST00000422652;ENST00000436147	D;D	0.88046	-2.33;-2.33	5.53	3.63	0.41609	.	.	.	.	.	T	0.78451	0.4285	L	0.27053	0.805	0.39443	D	0.967273	B	0.17852	0.024	B	0.17979	0.02	T	0.73404	-0.3993	9	0.87932	D	0	.	7.9418	0.29963	0.0:0.7527:0.1608:0.0865	.	682	B2RXH4	BTBDI_HUMAN	C	682	ENSP00000394472:W682C;ENSP00000397020:W682C	ENSP00000394472:W682C	W	-	3	0	BTBD18	57268275	0.168000	0.22989	0.744000	0.31058	0.688000	0.40055	1.636000	0.37144	0.784000	0.33661	0.561000	0.74099	TGG	BTBD18	-	NULL	ENSG00000233436		0.532	BTBD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTBD18	HGNC	protein_coding	OTTHUMT00000393718.2	91	0.00	0	C	NM_001145101		57511699	57511699	-1	no_errors	ENST00000422652	ensembl	human	known	69_37n	missense	87	15.53	16	SNP	0.853	G
BTN2A2	10385	genome.wustl.edu	37	6	26385338	26385338	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:26385338G>A	ENST00000356709.4	+	3	301	c.190G>A	c.(190-192)Gag>Aag	p.E64K	BTN2A2_ENST00000432533.2_Missense_Mutation_p.E64K|BTN2A2_ENST00000352867.2_Intron|BTN2A2_ENST00000469230.1_Missense_Mutation_p.E64K|BTN2A2_ENST00000416795.2_Missense_Mutation_p.E64K|BTN2A2_ENST00000482536.1_Intron	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	64	Ig-like V-type.				negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cellular metabolic process (GO:0031324)|negative regulation of cytokine secretion (GO:0050710)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						GAAAAATGCTGAGGACATGGA	0.547																																						dbGAP											0													152.0	126.0	135.0					6																	26385338		2203	4300	6503	-	-	-	SO:0001583	missense	0			U90550	CCDS4606.1, CCDS4607.1, CCDS56401.1, CCDS56402.1, CCDS56403.1	6p22.1	2014-01-14			ENSG00000124508	ENSG00000124508		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1137	protein-coding gene	gene with protein product		613591				10354554, 9149941	Standard	NM_006995		Approved	BTF2, BT2.2, BTN2.2	uc003nhq.3	Q8WVV5	OTTHUMG00000014452	ENST00000356709.4:c.190G>A	6.37:g.26385338G>A	ENSP00000349143:p.Glu64Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NM84|B4DE97|B4DQ01|E9PH07|O00480	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like	p.E64K	ENST00000356709.4	37	c.190	CCDS4606.1	6	.	.	.	.	.	.	.	.	.	.	g	17.23	3.337444	0.60963	.	.	ENSG00000124508	ENST00000469230;ENST00000356709;ENST00000493275;ENST00000432533;ENST00000416795;ENST00000494184	T;T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14;4.2	3.75	1.62	0.23740	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.284712	0.25578	N	0.029715	T	0.63954	0.2555	M	0.71036	2.16	0.27283	N	0.95805	D;D;P	0.65815	0.979;0.995;0.859	P;D;P	0.74674	0.772;0.984;0.759	T	0.57757	-0.7756	10	0.54805	T	0.06	.	10.4434	0.44479	0.0:0.3828:0.6172:0.0	.	64;64;64	B4DQ01;Q8WVV5-2;Q8WVV5	.;.;BT2A2_HUMAN	K	64	ENSP00000417472:E64K;ENSP00000349143:E64K;ENSP00000418857:E64K;ENSP00000394241:E64K;ENSP00000399308:E64K;ENSP00000417511:E64K	ENSP00000349143:E64K	E	+	1	0	BTN2A2	26493317	0.032000	0.19561	0.181000	0.23098	0.968000	0.65278	0.317000	0.19487	0.490000	0.27771	0.449000	0.29647	GAG	BTN2A2	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000124508		0.547	BTN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTN2A2	HGNC	protein_coding	OTTHUMT00000040117.1	171	0.00	0	G			26385338	26385338	+1	no_errors	ENST00000356709	ensembl	human	known	69_37n	missense	131	26.67	48	SNP	0.693	A
BTN2A2	10385	genome.wustl.edu	37	6	26385444	26385444	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:26385444G>T	ENST00000356709.4	+	3	407	c.296G>T	c.(295-297)aGa>aTa	p.R99I	BTN2A2_ENST00000432533.2_Missense_Mutation_p.R99I|BTN2A2_ENST00000352867.2_Intron|BTN2A2_ENST00000469230.1_Missense_Mutation_p.R99I|BTN2A2_ENST00000416795.2_Missense_Mutation_p.R99I|BTN2A2_ENST00000482536.1_Intron	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	99	Ig-like V-type.				negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cellular metabolic process (GO:0031324)|negative regulation of cytokine secretion (GO:0050710)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						TACCGGGGAAGAATCACCTTT	0.542																																						dbGAP											0													150.0	126.0	134.0					6																	26385444		2203	4300	6503	-	-	-	SO:0001583	missense	0			U90550	CCDS4606.1, CCDS4607.1, CCDS56401.1, CCDS56402.1, CCDS56403.1	6p22.1	2014-01-14			ENSG00000124508	ENSG00000124508		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1137	protein-coding gene	gene with protein product		613591				10354554, 9149941	Standard	NM_006995		Approved	BTF2, BT2.2, BTN2.2	uc003nhq.3	Q8WVV5	OTTHUMG00000014452	ENST00000356709.4:c.296G>T	6.37:g.26385444G>T	ENSP00000349143:p.Arg99Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NM84|B4DE97|B4DQ01|E9PH07|O00480	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like	p.R99I	ENST00000356709.4	37	c.296	CCDS4606.1	6	.	.	.	.	.	.	.	.	.	.	g	17.73	3.462702	0.63513	.	.	ENSG00000124508	ENST00000469230;ENST00000356709;ENST00000493275;ENST00000432533;ENST00000416795	T;T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67;-0.67	3.75	3.75	0.43078	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000025	D	0.86159	0.5866	H	0.96333	3.805	0.52099	D	0.999946	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.998;0.991;0.998	D	0.90231	0.4279	10	0.87932	D	0	.	13.0915	0.59169	0.0:0.0:1.0:0.0	.	99;99;99	B4DQ01;Q8WVV5-2;Q8WVV5	.;.;BT2A2_HUMAN	I	99	ENSP00000417472:R99I;ENSP00000349143:R99I;ENSP00000418857:R99I;ENSP00000394241:R99I;ENSP00000399308:R99I	ENSP00000349143:R99I	R	+	2	0	BTN2A2	26493423	0.989000	0.36119	0.646000	0.29493	0.567000	0.35839	5.947000	0.70242	1.639000	0.50556	0.449000	0.29647	AGA	BTN2A2	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000124508		0.542	BTN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTN2A2	HGNC	protein_coding	OTTHUMT00000040117.1	147	0.00	0	G			26385444	26385444	+1	no_errors	ENST00000356709	ensembl	human	known	69_37n	missense	107	18.32	24	SNP	0.998	T
BUB3	9184	genome.wustl.edu	37	10	124921812	124921812	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:124921812G>A	ENST00000368865.4	+	6	846	c.637G>A	c.(637-639)Gag>Aag	p.E213K	BUB3_ENST00000481952.1_3'UTR|BUB3_ENST00000538238.1_Missense_Mutation_p.E133K|BUB3_ENST00000368859.2_Intron|BUB3_ENST00000368858.5_Missense_Mutation_p.E213K	NM_004725.3	NP_004716.1	O43684	BUB3_HUMAN	BUB3 mitotic checkpoint protein	213					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|attachment of spindle microtubules to kinetochore (GO:0008608)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|regulation of chromosome segregation (GO:0051983)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|spindle assembly checkpoint (GO:0071173)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)				CCCAAGCCCTGAGGTACAGAA	0.393																																					GBM(161;1111 1985 17553 20049 26037)	dbGAP											0													171.0	184.0	179.0					10																	124921812		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF053304	CCDS7635.1, CCDS31306.1	10q24	2013-01-17	2013-01-17		ENSG00000154473	ENSG00000154473		"""WD repeat domain containing"""	1151	protein-coding gene	gene with protein product		603719	"""BUB3 (budding uninhibited by benzimidazoles 3, yeast) homolog"", ""budding uninhibited by benzimidazoles 3 homolog (yeast)"""			9660858	Standard	NM_004725		Approved	BUB3L	uc001lhe.2	O43684	OTTHUMG00000019197	ENST00000368865.4:c.637G>A	10.37:g.124921812G>A	ENSP00000357858:p.Glu213Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJ42|B2R6E7|D3DRE9|O43685	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E213K	ENST00000368865.4	37	c.637	CCDS7635.1	10	.	.	.	.	.	.	.	.	.	.	G	28.7	4.940006	0.92526	.	.	ENSG00000154473	ENST00000368865;ENST00000538238;ENST00000368858;ENST00000407911	T;T;T;T	0.70516	-0.49;1.54;-0.49;-0.49	5.5	4.57	0.56435	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	0.78984	0.4370	L	0.55103	1.725	0.80722	D	1	D;D	0.64830	0.994;0.99	P;P	0.61940	0.835;0.896	T	0.79247	-0.1882	10	0.44086	T	0.13	-30.5199	15.7412	0.77899	0.0:0.0:0.8623:0.1377	.	213;213	O43684;O43684-2	BUB3_HUMAN;.	K	213;133;213;213	ENSP00000357858:E213K;ENSP00000444354:E133K;ENSP00000357851:E213K;ENSP00000383941:E213K	ENSP00000357851:E213K	E	+	1	0	BUB3	124911802	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.767000	0.98960	1.390000	0.46547	0.650000	0.86243	GAG	BUB3	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom	ENSG00000154473		0.393	BUB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BUB3	HGNC	protein_coding	OTTHUMT00000050835.1	119	0.00	0	G			124921812	124921812	+1	no_errors	ENST00000368865	ensembl	human	known	69_37n	missense	26	46.94	23	SNP	1.000	A
BUD31	8896	genome.wustl.edu	37	7	99013881	99013881	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:99013881G>C	ENST00000403633.2	+	4	744	c.215G>C	c.(214-216)aGa>aCa	p.R72T	snoU13_ENST00000458831.1_RNA|BUD31_ENST00000456893.1_Intron|BUD31_ENST00000431419.1_Missense_Mutation_p.R43T|BUD31_ENST00000222969.5_Missense_Mutation_p.R72T			P41223	BUD31_HUMAN	BUD31 homolog (S. cerevisiae)	72					regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)	4	all_cancers(62;1.76e-08)|all_epithelial(64;1.63e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			GCCATCAGCAGAGGTAATTAG	0.473																																						dbGAP											0													120.0	111.0	114.0					7																	99013881		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC022821	CCDS5663.1	7q22.1	2012-06-07	2007-01-12	2006-03-16	ENSG00000106245	ENSG00000106245			29629	protein-coding gene	gene with protein product	"""G10 maternal transcript homolog (Xenopus laevis)"", ""functional spliceosome-associated protein 17"""	603477	"""BUD31 homolog (yeast)"""			7841202	Standard	NM_003910		Approved	YCR063W, EDG-2, EDG2, G10, fSAP17, Cwc14	uc003uqg.4	P41223	OTTHUMG00000154602	ENST00000403633.2:c.215G>C	7.37:g.99013881G>C	ENSP00000386023:p.Arg72Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D274|B7Z4S9|D6W5S6|Q6IB53|Q9UDV1	Missense_Mutation	SNP	pfam_G10,prints_G10	p.R72T	ENST00000403633.2	37	c.215	CCDS5663.1	7	.	.	.	.	.	.	.	.	.	.	G	26.1	4.706371	0.89018	.	.	ENSG00000106245	ENST00000403633;ENST00000222969;ENST00000431419	.	.	.	5.78	4.89	0.63831	.	0.041315	0.85682	D	0.000000	T	0.68577	0.3016	L	0.52266	1.64	0.80722	D	1	D;P	0.60575	0.988;0.933	D;P	0.66979	0.948;0.9	T	0.65487	-0.6156	9	0.37606	T	0.19	-35.7818	15.1084	0.72336	0.0685:0.0:0.9315:0.0	.	72;72	B7Z4S9;P41223	.;BUD31_HUMAN	T	72;72;43	.	ENSP00000222969:R72T	R	+	2	0	BUD31	98851817	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.535000	0.82014	2.742000	0.94016	0.650000	0.86243	AGA	BUD31	-	pfam_G10,prints_G10	ENSG00000106245		0.473	BUD31-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BUD31	HGNC	protein_coding	OTTHUMT00000336275.1	92	0.00	0	G	NM_003910		99013881	99013881	+1	no_errors	ENST00000222969	ensembl	human	known	69_37n	missense	78	16.13	15	SNP	1.000	C
C10orf12	26148	genome.wustl.edu	37	10	98742657	98742657	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:98742657G>C	ENST00000286067.2	+	1	1617	c.1510G>C	c.(1510-1512)Gat>Cat	p.D504H		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	504										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		TGAGGCCTCTGATAGGTGCCT	0.398																																						dbGAP											0													62.0	67.0	65.0					10																	98742657		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.1510G>C	10.37:g.98742657G>C	ENSP00000286067:p.Asp504His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H945|Q9Y457	Missense_Mutation	SNP	NULL	p.D504H	ENST00000286067.2	37	c.1510	CCDS7452.1	10	.	.	.	.	.	.	.	.	.	.	G	23.3	4.397389	0.83120	.	.	ENSG00000155640	ENST00000286067;ENST00000539886	T	0.24151	1.87	5.82	5.82	0.92795	.	0.957343	0.08557	N	0.928077	T	0.47764	0.1463	L	0.34521	1.04	0.51233	D	0.999919	D	0.89917	1.0	D	0.97110	1.0	T	0.39057	-0.9632	10	0.72032	D	0.01	-14.1062	20.0925	0.97824	0.0:0.0:1.0:0.0	.	504	Q8N655	CJ012_HUMAN	H	504;338	ENSP00000286067:D504H	ENSP00000286067:D504H	D	+	1	0	C10orf12	98732647	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.635000	0.74295	2.765000	0.95021	0.561000	0.74099	GAT	C10orf12	-	NULL	ENSG00000155640		0.398	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf12	HGNC	protein_coding	OTTHUMT00000049627.1	22	0.00	0	G	NM_015652		98742657	98742657	+1	no_errors	ENST00000286067	ensembl	human	known	69_37n	missense	13	27.78	5	SNP	1.000	C
ACSM6	142827	genome.wustl.edu	37	10	96988506	96988506	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:96988506G>C	ENST00000394005.3	+	10	1417	c.1408G>C	c.(1408-1410)Gat>Cat	p.D470H	RP11-310E22.4_ENST00000451737.1_RNA|C10orf129_ENST00000430183.1_3'UTR|C10orf129_ENST00000341686.3_Missense_Mutation_p.D470H			Q6P461	ACSM6_HUMAN		470					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		TGGTAGAGTTGATGATGTTGC	0.493																																						dbGAP											0													480.0	381.0	411.0					10																	96988506		692	1591	2283	-	-	-	SO:0001583	missense	0																														ENST00000394005.3:c.1408G>C	10.37:g.96988506G>C	ENSP00000377573:p.Asp470His	Somatic		WXS	Illumina GAIIx	Phase_IV	A4FU95|A4IF38|Q5VZX2|Q6ZTX1	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.D470H	ENST00000394005.3	37	c.1408	CCDS7440.2	10	.	.	.	.	.	.	.	.	.	.	G	14.80	2.644301	0.47258	.	.	ENSG00000173124	ENST00000539707;ENST00000341686;ENST00000394005	T;T	0.17691	2.26;2.26	0.962	0.962	0.19643	AMP-dependent synthetase/ligase (1);	.	.	.	.	T	0.40791	0.1131	M	0.86805	2.84	0.09310	N	0.999995	D	0.89917	1.0	D	0.97110	1.0	T	0.09796	-1.0658	9	0.87932	D	0	.	5.2137	0.15331	0.0:0.0:1.0:0.0	.	470	Q6P461	ACSM6_HUMAN	H	496;470;470	ENSP00000340296:D470H;ENSP00000377573:D470H	ENSP00000340296:D470H	D	+	1	0	C10orf129	96978496	0.999000	0.42202	0.070000	0.20053	0.745000	0.42441	1.551000	0.36233	0.790000	0.33803	0.313000	0.20887	GAT	C10orf129	-	pfam_AMP-dep_Synth/Lig	ENSG00000173124		0.493	C10orf129-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf129	HGNC	protein_coding	OTTHUMT00000049506.2	208	0.00	0	G			96988506	96988506	+1	no_errors	ENST00000341686	ensembl	human	known	69_37n	missense	124	32.97	61	SNP	0.122	C
C10orf131	100127889	genome.wustl.edu	37	10	97697820	97697820	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:97697820G>C	ENST00000423344.2	+	8	581	c.385G>C	c.(385-387)Gag>Cag	p.E129Q	ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA	NM_001130446.2	NP_001123918.2	A6NCD4	CJ131_HUMAN	chromosome 10 open reading frame 131	125										endometrium(1)|kidney(1)	2						TGAGAGTGAAGAGGAAGAGTT	0.323																																						dbGAP											0													109.0	96.0	100.0					10																	97697820		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS58090.1	10q24.1	2012-05-30			ENSG00000173088	ENSG00000173088			31667	protein-coding gene	gene with protein product							Standard	NM_001130446		Approved	bA690P14.3	uc010qoo.2	A6NCD4	OTTHUMG00000018824	ENST00000423344.2:c.385G>C	10.37:g.97697820G>C	ENSP00000411850:p.Glu129Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AMZ2|B4DG41	Missense_Mutation	SNP	NULL	p.E125Q	ENST00000423344.2	37	c.373	CCDS58090.1	10	.	.	.	.	.	.	.	.	.	.	G	10.52	1.374038	0.24857	.	.	ENSG00000173088	ENST00000371202;ENST00000423344	.	.	.	5.27	5.27	0.74061	.	0.208477	0.37261	N	0.002161	T	0.26195	0.0639	N	0.08118	0	0.23150	N	0.998217	B	0.10296	0.003	B	0.14578	0.011	T	0.22208	-1.0223	9	0.52906	T	0.07	.	14.7414	0.69458	0.0:0.0:1.0:0.0	.	129	B4DG41	.	Q	125;129	.	ENSP00000360245:E125Q	E	+	1	0	C10orf131	97687810	1.000000	0.71417	0.997000	0.53966	0.172000	0.22775	3.076000	0.50081	2.612000	0.88384	0.650000	0.86243	GAG	C10orf131	-	NULL	ENSG00000173088		0.323	C10orf131-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf131	HGNC	protein_coding	OTTHUMT00000468148.1	101	0.00	0	G	NM_001098847		97697820	97697820	+1	no_errors	ENST00000371202	ensembl	human	known	69_37n	missense	46	30.30	20	SNP	0.998	C
C10orf12	26148	genome.wustl.edu	37	10	98743124	98743124	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:98743124G>C	ENST00000286067.2	+	1	2084	c.1977G>C	c.(1975-1977)aaG>aaC	p.K659N		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	659										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		TTGCTTGTAAGAGGGACCCAG	0.478																																						dbGAP											0													55.0	55.0	55.0					10																	98743124		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.1977G>C	10.37:g.98743124G>C	ENSP00000286067:p.Lys659Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H945|Q9Y457	Missense_Mutation	SNP	NULL	p.K659N	ENST00000286067.2	37	c.1977	CCDS7452.1	10	.	.	.	.	.	.	.	.	.	.	G	3.822	-0.037640	0.07497	.	.	ENSG00000155640	ENST00000286067;ENST00000539886	T	0.07567	3.18	5.56	2.55	0.30701	.	1.296550	0.05748	N	0.602578	T	0.06872	0.0175	N	0.19112	0.55	0.09310	N	1	P	0.35628	0.513	B	0.36989	0.238	T	0.42275	-0.9461	10	0.34782	T	0.22	-0.5943	5.8244	0.18546	0.074:0.1007:0.5382:0.2871	.	659	Q8N655	CJ012_HUMAN	N	659;493	ENSP00000286067:K659N	ENSP00000286067:K659N	K	+	3	2	C10orf12	98733114	0.110000	0.22057	0.000000	0.03702	0.130000	0.20726	1.258000	0.32944	0.230000	0.21059	0.561000	0.74099	AAG	C10orf12	-	NULL	ENSG00000155640		0.478	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf12	HGNC	protein_coding	OTTHUMT00000049627.1	29	0.00	0	G	NM_015652		98743124	98743124	+1	no_errors	ENST00000286067	ensembl	human	known	69_37n	missense	24	31.43	11	SNP	0.000	C
C10orf55	414236	genome.wustl.edu	37	10	75671527	75671527	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:75671527G>C	ENST00000409178.1	-	5	712	c.372C>G	c.(370-372)ctC>ctG	p.L124L	C10orf55_ENST00000412307.2_Silent_p.L124L|PLAU_ENST00000372764.3_Intron|PLAU_ENST00000372762.4_Intron|PLAU_ENST00000446342.1_5'UTR|PLAU_ENST00000494287.1_Intron	NM_001001791.2	NP_001001791.2	Q5SWW7	CJ055_HUMAN	chromosome 10 open reading frame 55	124										endometrium(1)	1	Prostate(51;0.0112)					GCGGAGGCTTGAGAACCACGG	0.652																																						dbGAP											0													15.0	27.0	23.0					10																	75671527		1283	2277	3560	-	-	-	SO:0001819	synonymous_variant	0				CCDS53541.1	10q22.2	2012-05-24			ENSG00000222047	ENSG00000222047			31008	protein-coding gene	gene with protein product							Standard	NM_001001791		Approved	bA417O11.3	uc001jvz.2	Q5SWW7	OTTHUMG00000018496	ENST00000409178.1:c.372C>G	10.37:g.75671527G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3KRG4|Q8NAK4	Silent	SNP	NULL	p.L124	ENST00000409178.1	37	c.372	CCDS53541.1	10																																																																																			C10orf55	-	NULL	ENSG00000222047		0.652	C10orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf55	HGNC	protein_coding	OTTHUMT00000048746.1	46	0.00	0	G	NM_001001791		75671527	75671527	-1	no_errors	ENST00000409178	ensembl	human	known	69_37n	silent	26	29.73	11	SNP	0.001	C
C10orf2	56652	genome.wustl.edu	37	10	102749553	102749553	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:102749553G>A	ENST00000311916.2	+	2	1581	c.1396G>A	c.(1396-1398)Gat>Aat	p.D466N	MRPL43_ENST00000493646.1_5'Flank|MRPL43_ENST00000370241.3_5'Flank|MRPL43_ENST00000370242.4_5'Flank|MRPL43_ENST00000477279.1_5'Flank|MRPL43_ENST00000318364.8_5'Flank|MRPL43_ENST00000370234.4_5'Flank|MRPL43_ENST00000370236.1_5'Flank|MRPL43_ENST00000342071.1_5'Flank|C10orf2_ENST00000473656.1_3'UTR|MRPL43_ENST00000299179.5_5'Flank|C10orf2_ENST00000370228.1_Missense_Mutation_p.D466N|MRPL43_ENST00000318325.2_5'Flank	NM_001163813.1|NM_021830.4	NP_001157285.1|NP_068602.2	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	466	SF4 helicase. {ECO:0000255|PROSITE- ProRule:PRU00596}.				cell death (GO:0008219)|DNA unwinding involved in DNA replication (GO:0006268)|mitochondrial DNA replication (GO:0006264)|protein hexamerization (GO:0034214)|protein homooligomerization (GO:0051260)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial nucleoid (GO:0042645)	5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GCGGCTGGAAGATCAACTGGA	0.542																																						dbGAP											0													129.0	124.0	126.0					10																	102749553		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF292004	CCDS7506.1, CCDS53570.1	10q24	2013-05-13			ENSG00000107815	ENSG00000107815			1160	protein-coding gene	gene with protein product	"""twinkle"", ""T7 helicase-related protein with intramitochondrial nucleoid localization"""	606075	"""infantile onset spinocerebellar ataxia (autosomal recessive)"""	IOSCA		11431692, 10645945, 16135556	Standard	NM_021830		Approved	PEO, PEO1, TWINKLE, FLJ21832, TWINL	uc001ksf.2	Q96RR1	OTTHUMG00000018917	ENST00000311916.2:c.1396G>A	10.37:g.102749553G>A	ENSP00000309595:p.Asp466Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2CQL2|Q6MZX2|Q6PJP5|Q96RR0	Missense_Mutation	SNP	pfam_Circ_KaiC/RadA,pfam_DNA_helicase_DnaB-like_C,pfscan_DNA_helicase_DnaB-like_C	p.D466N	ENST00000311916.2	37	c.1396	CCDS7506.1	10	.	.	.	.	.	.	.	.	.	.	G	14.50	2.553735	0.45487	.	.	ENSG00000107815	ENST00000311916;ENST00000370228	D;D	0.94376	-3.41;-3.41	6.04	6.04	0.98038	Circadian clock protein KaiC/DNA repair protein RadA (1);DNA helicase, DnaB-like, C-terminal (1);	0.300883	0.40818	N	0.001004	D	0.89504	0.6734	N	0.22421	0.69	0.35828	D	0.825119	B;B	0.30361	0.277;0.25	B;B	0.33521	0.157;0.165	D	0.88145	0.2847	10	0.26408	T	0.33	-27.0088	19.1729	0.93588	0.0:0.0:1.0:0.0	.	466;466	Q96RR1-2;Q96RR1	.;PEO1_HUMAN	N	466	ENSP00000309595:D466N;ENSP00000359248:D466N	ENSP00000309595:D466N	D	+	1	0	C10orf2	102739543	1.000000	0.71417	1.000000	0.80357	0.402000	0.30811	7.830000	0.86741	2.873000	0.98535	0.563000	0.77884	GAT	C10orf2	-	pfam_Circ_KaiC/RadA,pfam_DNA_helicase_DnaB-like_C,pfscan_DNA_helicase_DnaB-like_C	ENSG00000107815		0.542	C10orf2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf2	HGNC	protein_coding	OTTHUMT00000049886.1	47	0.00	0	G	NM_021830		102749553	102749553	+1	no_errors	ENST00000311916	ensembl	human	known	69_37n	missense	19	36.67	11	SNP	1.000	A
C10orf76	79591	genome.wustl.edu	37	10	103789437	103789437	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:103789437G>C	ENST00000370033.4	-	5	491	c.372C>G	c.(370-372)atC>atG	p.I124M	C10orf76_ENST00000311122.5_Missense_Mutation_p.I124M	NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	124						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		TCAGCATGTTGATAATGTCAA	0.488																																						dbGAP											0													162.0	158.0	159.0					10																	103789437		2053	4206	6259	-	-	-	SO:0001583	missense	0			AK023176	CCDS41563.1	10q24.32	2008-10-21			ENSG00000120029	ENSG00000120029			25788	protein-coding gene	gene with protein product						14702039	Standard	NM_024541		Approved	FLJ13114	uc009xwy.1	Q5T2E6	OTTHUMG00000018943	ENST00000370033.4:c.372C>G	10.37:g.103789437G>C	ENSP00000359050:p.Ile124Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2TB87|Q9H8Z9	Missense_Mutation	SNP	pfam_DUF1741,superfamily_ARM-type_fold	p.I124M	ENST00000370033.4	37	c.372	CCDS41563.1	10	.	.	.	.	.	.	.	.	.	.	G	20.8	4.043685	0.75732	.	.	ENSG00000120029	ENST00000370033;ENST00000311122	T;T	0.68903	-0.36;2.31	5.89	4.02	0.46733	.	0.088536	0.85682	D	0.000000	T	0.76292	0.3967	L	0.48986	1.54	0.58432	D	0.999998	P;D	0.89917	0.756;1.0	B;D	0.85130	0.297;0.997	T	0.76310	-0.3006	10	0.54805	T	0.06	-6.5519	13.1593	0.59535	0.1314:0.0:0.8686:0.0	.	124;124	Q5T2E6;Q5T2E7	CJ076_HUMAN;.	M	124	ENSP00000359050:I124M;ENSP00000312408:I124M	ENSP00000312408:I124M	I	-	3	3	C10orf76	103779427	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.458000	0.53014	0.821000	0.34540	0.555000	0.69702	ATC	C10orf76	-	superfamily_ARM-type_fold	ENSG00000120029		0.488	C10orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf76	HGNC	protein_coding	OTTHUMT00000050007.1	129	0.00	0	G	NM_024541		103789437	103789437	-1	no_errors	ENST00000370033	ensembl	human	known	69_37n	missense	66	27.47	25	SNP	1.000	C
C10orf88	80007	genome.wustl.edu	37	10	124697629	124697629	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:124697629G>A	ENST00000481909.1	-	5	919	c.695C>T	c.(694-696)tCt>tTt	p.S232F	C10orf88_ENST00000368891.5_5'UTR	NM_024942.3	NP_079218.2	Q9H8K7	CJ088_HUMAN	chromosome 10 open reading frame 88	232										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)	18		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)		CTTGTATCCAGAATTGCCCAA	0.378																																						dbGAP											0													127.0	117.0	120.0					10																	124697629		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK023552	CCDS7632.1	10q26.13	2012-11-09			ENSG00000119965	ENSG00000119965			25822	protein-coding gene	gene with protein product						12477932	Standard	NM_024942		Approved	FLJ13490, Em:AC073585.5	uc001lgw.2	Q9H8K7	OTTHUMG00000019190	ENST00000481909.1:c.695C>T	10.37:g.124697629G>A	ENSP00000419126:p.Ser232Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0P6C6|Q8N597	Missense_Mutation	SNP	NULL	p.S232F	ENST00000481909.1	37	c.695	CCDS7632.1	10	.	.	.	.	.	.	.	.	.	.	G	11.68	1.711901	0.30322	.	.	ENSG00000119965	ENST00000481909	.	.	.	4.1	2.88	0.33553	.	0.703771	0.12761	U	0.441391	T	0.09069	0.0224	N	0.00841	-1.15	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.09422	-1.0675	9	0.59425	D	0.04	.	3.6082	0.08050	0.338:0.0:0.662:0.0	.	232	Q9H8K7	CJ088_HUMAN	F	232	.	ENSP00000419126:S232F	S	-	2	0	C10orf88	124687619	0.385000	0.25172	0.035000	0.18076	0.162000	0.22319	2.894000	0.48640	1.965000	0.57142	0.585000	0.79938	TCT	C10orf88	-	NULL	ENSG00000119965		0.378	C10orf88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf88	HGNC	protein_coding	OTTHUMT00000050807.1	60	0.00	0	G	NM_024942		124697629	124697629	-1	no_errors	ENST00000481909	ensembl	human	known	69_37n	missense	33	32.65	16	SNP	0.284	A
C10orf88	80007	genome.wustl.edu	37	10	124708295	124708295	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:124708295G>C	ENST00000481909.1	-	4	742	c.518C>G	c.(517-519)tCt>tGt	p.S173C	C10orf88_ENST00000368891.5_5'UTR	NM_024942.3	NP_079218.2	Q9H8K7	CJ088_HUMAN	chromosome 10 open reading frame 88	173										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)	18		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)		GCTTGTTGAAGAATTTGCAAA	0.428																																						dbGAP											0													115.0	109.0	111.0					10																	124708295		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK023552	CCDS7632.1	10q26.13	2012-11-09			ENSG00000119965	ENSG00000119965			25822	protein-coding gene	gene with protein product						12477932	Standard	NM_024942		Approved	FLJ13490, Em:AC073585.5	uc001lgw.2	Q9H8K7	OTTHUMG00000019190	ENST00000481909.1:c.518C>G	10.37:g.124708295G>C	ENSP00000419126:p.Ser173Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0P6C6|Q8N597	Missense_Mutation	SNP	NULL	p.S173C	ENST00000481909.1	37	c.518	CCDS7632.1	10	.	.	.	.	.	.	.	.	.	.	G	8.280	0.815414	0.16607	.	.	ENSG00000119965	ENST00000481909	.	.	.	4.33	4.33	0.51752	.	0.263984	0.22988	U	0.053233	T	0.42040	0.1185	L	0.61036	1.89	0.09310	N	1	B	0.27140	0.169	B	0.28553	0.091	T	0.28459	-1.0043	9	0.33141	T	0.24	.	7.4386	0.27171	0.0999:0.171:0.729:0.0	.	173	Q9H8K7	CJ088_HUMAN	C	173	.	ENSP00000419126:S173C	S	-	2	0	C10orf88	124698285	0.803000	0.28956	0.011000	0.14972	0.869000	0.49853	2.828000	0.48120	2.111000	0.64477	0.440000	0.28878	TCT	C10orf88	-	NULL	ENSG00000119965		0.428	C10orf88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf88	HGNC	protein_coding	OTTHUMT00000050807.1	86	0.00	0	G	NM_024942		124708295	124708295	-1	no_errors	ENST00000481909	ensembl	human	known	69_37n	missense	54	27.03	20	SNP	0.017	C
BTBD18	643376	genome.wustl.edu	37	11	57509152	57509152	+	IGR	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:57509152G>C	ENST00000436147.3	-	0	2947				C11orf31_ENST00000388857.4_Missense_Mutation_p.E29Q|RP11-691N7.6_ENST00000531074.1_5'Flank|TMX2-CTNND1_ENST00000528395.1_Intron|C11orf31_ENST00000534355.1_Missense_Mutation_p.E29Q			B2RXH4	BTBDI_HUMAN	BTB (POZ) domain containing 18											endometrium(3)|kidney(1)	4						GAACGGCGGGGAGGGAATGGA	0.697																																						dbGAP											0													20.0	28.0	26.0					11																	57509152		1927	4099	6026	-	-	-	SO:0001628	intergenic_variant	0				CCDS44603.1	11q12.1	2013-01-08			ENSG00000233436	ENSG00000233436		"""BTB/POZ domain containing"""	37214	protein-coding gene	gene with protein product							Standard	NM_001145101		Approved		uc010rjy.2	B2RXH4	OTTHUMG00000167203		11.37:g.57509152G>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Selenoprotein_Rdx-typ,superfamily_Thioredoxin-like_fold,tigrfam_Selenoprotein_Rdx-typ	p.E29Q	ENST00000436147.3	37	c.85	CCDS44603.1	11	.	.	.	.	.	.	.	.	.	.	G	12.95	2.092937	0.36952	.	.	ENSG00000211450	ENST00000534355;ENST00000388857	.	.	.	4.82	0.469	0.16741	.	.	.	.	.	T	0.16896	0.0406	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22626	-1.0211	8	0.32370	T	0.25	-0.6717	6.7244	0.23348	0.1155:0.3404:0.5441:0.0	.	29	Q8IZQ5	SELH_HUMAN	Q	29	.	ENSP00000373509:E29Q	E	+	1	0	C11orf31	57265728	0.001000	0.12720	0.000000	0.03702	0.134000	0.20937	0.170000	0.16663	-0.079000	0.12707	0.561000	0.74099	GAG	C11orf31	-	NULL	ENSG00000211450		0.697	BTBD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf31	HGNC	protein_coding	OTTHUMT00000393718.2	53	0.00	0	G	NM_001145101		57509152	57509152	+1	pseudogene	ENST00000388857	ensembl	human	known	69_37n	missense	41	19.61	10	SNP	0.000	C
C11orf30	56946	genome.wustl.edu	37	11	76227257	76227257	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:76227257G>A	ENST00000529032.1	+	10	1585	c.1585G>A	c.(1585-1587)Gca>Aca	p.A529T	C11orf30_ENST00000525038.1_Missense_Mutation_p.A544T|C11orf30_ENST00000533248.1_Missense_Mutation_p.A543T|C11orf30_ENST00000525919.1_Missense_Mutation_p.A530T|C11orf30_ENST00000334736.3_Missense_Mutation_p.A529T|C11orf30_ENST00000524767.1_Missense_Mutation_p.A544T|C11orf30_ENST00000343878.3_Missense_Mutation_p.A529T|C11orf30_ENST00000524490.1_Missense_Mutation_p.A445T			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	529	Thr-rich.				chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						CCCTGGAGCTGCAACCTATGT	0.463																																						dbGAP											0													118.0	113.0	114.0					11																	76227257		2200	4292	6492	-	-	-	SO:0001583	missense	0			AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.1585G>A	11.37:g.76227257G>A	ENSP00000432327:p.Ala529Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Missense_Mutation	SNP	pfam_ENT_N,pfscan_ENT_N	p.A529T	ENST00000529032.1	37	c.1585	CCDS8244.1	11	.	.	.	.	.	.	.	.	.	.	G	15.26	2.779442	0.49891	.	.	ENSG00000158636	ENST00000524490;ENST00000334736;ENST00000343878;ENST00000533972;ENST00000524767;ENST00000533248;ENST00000525919;ENST00000525038;ENST00000529032;ENST00000531998	.	.	.	5.38	4.47	0.54385	.	0.279181	0.36815	N	0.002388	T	0.49440	0.1557	N	0.14661	0.345	0.45183	D	0.998192	B;B;B;B;D;B	0.63880	0.036;0.002;0.005;0.214;0.993;0.214	B;B;B;B;D;B	0.74674	0.008;0.002;0.004;0.056;0.984;0.056	T	0.40646	-0.9552	9	0.10636	T	0.68	-5.8139	10.3931	0.44185	0.1506:0.0:0.8494:0.0	.	543;544;544;530;445;529	B7ZKT8;B7ZKU2;B7ZKU0;Q17RM7;E9PMC9;Q7Z589	.;.;.;.;.;EMSY_HUMAN	T	445;529;529;98;544;543;530;544;529;71	.	ENSP00000334130:A529T	A	+	1	0	C11orf30	75904905	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.659000	0.54489	1.260000	0.44134	0.557000	0.71058	GCA	C11orf30	-	NULL	ENSG00000158636		0.463	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	C11orf30	HGNC	protein_coding	OTTHUMT00000383288.2	77	0.00	0	G	NM_020193		76227257	76227257	+1	no_errors	ENST00000334736	ensembl	human	known	69_37n	missense	33	53.52	38	SNP	1.000	A
C12orf4	57102	genome.wustl.edu	37	12	4626232	4626232	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:4626232G>C	ENST00000261250.3	-	9	1244	c.1157C>G	c.(1156-1158)tCa>tGa	p.S386*	C12orf4_ENST00000545746.1_Nonsense_Mutation_p.S386*	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	386										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		CCCACCAAGTGATTCTTTCAA	0.363																																						dbGAP											0													87.0	86.0	86.0					12																	4626232		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AJ272205	CCDS8528.1	12p13.3	2012-08-10			ENSG00000047621	ENSG00000047621			1184	protein-coding gene	gene with protein product							Standard	NM_020374		Approved		uc001qms.3	Q9NQ89	OTTHUMG00000168258	ENST00000261250.3:c.1157C>G	12.37:g.4626232G>C	ENSP00000261250:p.Ser386*	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DUQ8|Q6MZH5	Nonsense_Mutation	SNP	pfam_DUF2362	p.S386*	ENST00000261250.3	37	c.1157	CCDS8528.1	12	.	.	.	.	.	.	.	.	.	.	G	13.02	2.113498	0.37339	.	.	ENSG00000047621	ENST00000261250;ENST00000545746	.	.	.	4.96	2.98	0.34508	.	0.319104	0.34133	N	0.004240	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	1.8011	0.03071	0.1805:0.1485:0.4954:0.1755	.	.	.	.	X	386	.	ENSP00000261250:S386X	S	-	2	0	C12orf4	4496493	0.383000	0.25156	0.232000	0.24009	0.464000	0.32679	1.976000	0.40579	1.211000	0.43351	0.585000	0.79938	TCA	C12orf4	-	pfam_DUF2362	ENSG00000047621		0.363	C12orf4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf4	HGNC	protein_coding	OTTHUMT00000398992.1	115	0.00	0	G	NM_020374		4626232	4626232	-1	no_errors	ENST00000261250	ensembl	human	known	69_37n	nonsense	50	27.54	19	SNP	0.099	C
CCDC175	729665	genome.wustl.edu	37	14	59998530	59998530	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:59998530C>G	ENST00000537690.2	-	14	1777	c.1722G>C	c.(1720-1722)gaG>gaC	p.E574D	CCDC175_ENST00000281581.4_Missense_Mutation_p.E574D	NM_001164399.1	NP_001157871.1	P0C221	CC175_HUMAN	coiled-coil domain containing 175	574																	TTCTTCTTTTCTCTTTATACT	0.323																																						dbGAP											0													316.0	266.0	281.0					14																	59998530		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS53898.1	14q23.1	2012-09-24	2012-09-24	2012-09-24	ENSG00000151838	ENSG00000151838			19847	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 38"""	C14orf38			Standard	NM_001164399		Approved		uc021rtw.1	P0C221		ENST00000537690.2:c.1722G>C	14.37:g.59998530C>G	ENSP00000453940:p.Glu574Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	G3V5J7	Missense_Mutation	SNP	superfamily_Prefoldin	p.E574D	ENST00000537690.2	37	c.1722	CCDS53898.1	14	.	.	.	.	.	.	.	.	.	.	C	4.889	0.165298	0.09339	.	.	ENSG00000151838	ENST00000555041	.	.	.	5.19	0.491	0.16867	.	1.674260	0.03001	N	0.148120	T	0.21267	0.0512	N	0.14661	0.345	0.09310	N	1	.	.	.	.	.	.	T	0.13656	-1.0501	7	0.18710	T	0.47	0.1128	5.8102	0.18462	0.0:0.2106:0.4383:0.351	.	.	.	.	D	574	.	ENSP00000281581:E574D	E	-	3	2	C14orf38	59068283	0.025000	0.19082	0.002000	0.10522	0.003000	0.03518	0.040000	0.13905	0.005000	0.14708	-0.312000	0.09012	GAG	C14orf38	-	NULL	ENSG00000151838		0.323	CCDC175-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf38	HGNC	protein_coding	OTTHUMT00000471273.1	284	0.00	0	C	NM_001164399		59998530	59998530	-1	no_errors	ENST00000281581	ensembl	human	known	69_37n	missense	166	17.00	34	SNP	0.003	G
CCDC175	729665	genome.wustl.edu	37	14	60018088	60018088	+	Silent	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:60018088C>A	ENST00000537690.2	-	8	1075	c.1020G>T	c.(1018-1020)ctG>ctT	p.L340L	CCDC175_ENST00000556996.1_5'UTR|CCDC175_ENST00000281581.4_Silent_p.L340L	NM_001164399.1	NP_001157871.1	P0C221	CC175_HUMAN	coiled-coil domain containing 175	340																	TTATCTTGTTCAGGAATTCAT	0.254																																						dbGAP											0													167.0	143.0	150.0					14																	60018088		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0				CCDS53898.1	14q23.1	2012-09-24	2012-09-24	2012-09-24	ENSG00000151838	ENSG00000151838			19847	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 38"""	C14orf38			Standard	NM_001164399		Approved		uc021rtw.1	P0C221		ENST00000537690.2:c.1020G>T	14.37:g.60018088C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	G3V5J7	Silent	SNP	superfamily_Prefoldin	p.L340	ENST00000537690.2	37	c.1020	CCDS53898.1	14																																																																																			C14orf38	-	superfamily_Prefoldin	ENSG00000151838		0.254	CCDC175-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf38	HGNC	protein_coding	OTTHUMT00000471273.1	217	0.00	0	C	NM_001164399		60018088	60018088	-1	no_errors	ENST00000281581	ensembl	human	known	69_37n	silent	103	46.91	91	SNP	0.000	A
C14orf93	60686	genome.wustl.edu	37	14	23456601	23456601	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:23456601C>T	ENST00000299088.6	-	7	1869	c.1440G>A	c.(1438-1440)ctG>ctA	p.L480L	C14orf93_ENST00000397382.4_Silent_p.L480L|RP11-298I3.4_ENST00000557615.1_RNA|C14orf93_ENST00000406429.2_Silent_p.L440L|RP11-298I3.4_ENST00000556503.1_RNA|C14orf93_ENST00000397379.3_Silent_p.L480L|RP11-298I3.4_ENST00000555294.1_RNA|C14orf93_ENST00000341470.4_Silent_p.L440L|C14orf93_ENST00000397377.1_Silent_p.L300L	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN	chromosome 14 open reading frame 93	480						extracellular region (GO:0005576)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		CAGCAGAAGGCAGTCTGTCTG	0.552																																						dbGAP											0													129.0	110.0	117.0					14																	23456601		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK023026	CCDS9583.1, CCDS61399.1, CCDS61400.1	14q11.1	2012-09-25			ENSG00000100802	ENSG00000100802			20162	protein-coding gene	gene with protein product							Standard	XM_005267971		Approved	FLJ12154	uc001wih.3	Q9H972	OTTHUMG00000028712	ENST00000299088.6:c.1440G>A	14.37:g.23456601C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7WP03|D3DS38|D3DS39|Q86SE6|Q96CF7|Q9HA68	Silent	SNP	NULL	p.L480	ENST00000299088.6	37	c.1440	CCDS9583.1	14																																																																																			C14orf93	-	NULL	ENSG00000100802		0.552	C14orf93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf93	HGNC	protein_coding	OTTHUMT00000071688.5	86	0.00	0	C	NM_021944		23456601	23456601	-1	no_errors	ENST00000299088	ensembl	human	known	69_37n	silent	40	48.75	39	SNP	0.957	T
C14orf80	283643	genome.wustl.edu	37	14	105958999	105958999	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:105958999G>A	ENST00000392523.4	+	4	634	c.513G>A	c.(511-513)ctG>ctA	p.L171L	C14orf80_ENST00000450383.1_Intron|C14orf80_ENST00000551054.1_3'UTR|C14orf80_ENST00000334656.7_Silent_p.L130L|C14orf80_ENST00000392522.3_Silent_p.L171L|C14orf80_ENST00000354560.6_Silent_p.L171L|C14orf80_ENST00000392527.1_Silent_p.L130L|C14orf80_ENST00000329886.7_Silent_p.L132L			Q86SX3	CN080_HUMAN	chromosome 14 open reading frame 80	171										central_nervous_system(1)	1		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.239)		TGCAGTGGCTGATGGGAAAGC	0.657																																						dbGAP											0													32.0	37.0	35.0					14																	105958999		692	1590	2282	-	-	-	SO:0001819	synonymous_variant	0				CCDS45180.1, CCDS45181.1, CCDS45182.1, CCDS55955.1	14q32.33	2012-09-25			ENSG00000185347	ENSG00000185347			20127	protein-coding gene	gene with protein product							Standard	NM_001134875		Approved		uc001yrn.3	Q86SX3	OTTHUMG00000170426	ENST00000392523.4:c.513G>A	14.37:g.105958999G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDG3|E9PAQ4|Q86TT3|Q86TT4|Q86TT5|Q96B41|Q9H7H4	Silent	SNP	NULL	p.L171	ENST00000392523.4	37	c.513		14																																																																																			C14orf80	-	NULL	ENSG00000185347		0.657	C14orf80-017	KNOWN	basic	protein_coding	C14orf80	HGNC	protein_coding	OTTHUMT00000409090.1	28	0.00	0	G	NM_001134875		105958999	105958999	+1	no_errors	ENST00000392523	ensembl	human	known	69_37n	silent	25	41.86	18	SNP	1.000	A
C15orf54	400360	genome.wustl.edu	37	15	39544726	39544726	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:39544726G>A	ENST00000318578.3	+	2	758	c.390G>A	c.(388-390)aaG>aaA	p.K130K	RP11-624L4.1_ENST00000558209.1_RNA|RP11-624L4.1_ENST00000561058.1_RNA|RP11-624L4.1_ENST00000560484.1_RNA|C15orf54_ENST00000561223.1_Silent_p.K130K	NM_207445.2	NP_997328.1	Q8N8G6	CO054_HUMAN	chromosome 15 open reading frame 54	130										NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)		CTGGGTGGAAGAACATGAGTT	0.473																																						dbGAP											0													136.0	119.0	125.0					15																	39544726		2200	4297	6497	-	-	-	SO:0001819	synonymous_variant	0				CCDS10049.1	15q14	2014-09-10			ENSG00000175746	ENSG00000175746			33797	protein-coding gene	gene with protein product							Standard	NM_207445		Approved	FLJ39531	uc001zkg.2	Q8N8G6	OTTHUMG00000129843	ENST00000318578.3:c.390G>A	15.37:g.39544726G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZVZ9	Silent	SNP	NULL	p.K130	ENST00000318578.3	37	c.390	CCDS10049.1	15																																																																																			C15orf54	-	NULL	ENSG00000175746		0.473	C15orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C15orf54	HGNC	protein_coding	OTTHUMT00000252083.1	51	0.00	0	G	NM_207445		39544726	39544726	+1	no_errors	ENST00000318578	ensembl	human	known	69_37n	silent	35	39.66	23	SNP	0.007	A
VWA9	81556	genome.wustl.edu	37	15	65885905	65885905	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:65885905C>T	ENST00000395644.4	-	8	1182	c.847G>A	c.(847-849)Gat>Aat	p.D283N	VWA9_ENST00000567744.1_Missense_Mutation_p.D319N|VWA9_ENST00000569491.1_Missense_Mutation_p.D233N|VWA9_ENST00000313182.2_Missense_Mutation_p.D283N|VWA9_ENST00000431261.2_Missense_Mutation_p.D204N|VWA9_ENST00000442903.3_Missense_Mutation_p.D247N|VWA9_ENST00000420799.2_Missense_Mutation_p.D226N			Q96SY0	VWA9_HUMAN	von Willebrand factor A domain containing 9	283																	CCCACCTCATCACCTTCTGTG	0.408																																						dbGAP											0													97.0	79.0	85.0					15																	65885905		2201	4299	6500	-	-	-	SO:0001583	missense	0			AL136662	CCDS55969.1, CCDS45283.1	15q22.31	2012-09-27	2012-09-27	2012-09-27	ENSG00000138614	ENSG00000138614			25372	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 44"""	C15orf44		11230166	Standard	NM_001136043		Approved	DKFZP564O1664	uc010uja.2	Q96SY0	OTTHUMG00000133159	ENST00000395644.4:c.847G>A	15.37:g.65885905C>T	ENSP00000379006:p.Asp283Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DDI6|B4DVD5|Q49AH8|Q96HX5|Q9H0S5	Missense_Mutation	SNP	NULL	p.D319N	ENST00000395644.4	37	c.955		15	.	.	.	.	.	.	.	.	.	.	C	21.4	4.144293	0.77888	.	.	ENSG00000138614	ENST00000395644;ENST00000313182;ENST00000431261;ENST00000420799;ENST00000442903	.	.	.	5.55	5.55	0.83447	.	0.132908	0.64402	D	0.000002	T	0.59169	0.2174	L	0.47716	1.5	0.80722	D	1	P;P;P;P	0.51057	0.879;0.844;0.941;0.48	P;B;P;B	0.47102	0.475;0.325;0.537;0.121	T	0.52909	-0.8512	9	0.23891	T	0.37	-25.8226	19.8764	0.96873	0.0:1.0:0.0:0.0	.	233;247;319;283	B4DWZ3;B4DVT3;B4DJL6;Q96SY0	.;.;.;CO044_HUMAN	N	283;283;204;226;247	.	ENSP00000326379:D283N	D	-	1	0	C15orf44	63672958	1.000000	0.71417	0.943000	0.38184	0.967000	0.64934	7.765000	0.85310	2.768000	0.95171	0.655000	0.94253	GAT	C15orf44	-	NULL	ENSG00000138614		0.408	VWA9-201	KNOWN	basic|appris_principal	protein_coding	C15orf44	HGNC	protein_coding	OTTHUMT00000420604.3	52	0.00	0	C	NM_030800		65885905	65885905	-1	no_errors	ENST00000567744	ensembl	human	known	69_37n	missense	60	25.93	21	SNP	1.000	T
C15orf40	123207	genome.wustl.edu	37	15	83677321	83677321	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:83677321C>G	ENST00000513601.2	-	3	352	c.345G>C	c.(343-345)aaG>aaC	p.K115N	C15orf40_ENST00000304177.5_Missense_Mutation_p.K88N|RP11-382A20.5_ENST00000566841.1_RNA|C15orf40_ENST00000451195.3_Missense_Mutation_p.K115N|C15orf40_ENST00000565712.1_Intron|C15orf40_ENST00000538348.2_Missense_Mutation_p.K115N			Q8WUR7	CO040_HUMAN	chromosome 15 open reading frame 40	115										large_intestine(3)|lung(2)|skin(1)	6						CCACATCACTCTTCCTGAGTT	0.473																																						dbGAP											0													101.0	90.0	94.0					15																	83677321		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC019820	CCDS32312.1, CCDS32312.2, CCDS53968.1, CCDS53969.1	15q25.2	2012-05-30			ENSG00000169609	ENSG00000169609			28443	protein-coding gene	gene with protein product							Standard	NM_144597		Approved	MGC29937	uc010uoo.1	Q8WUR7	OTTHUMG00000160473	ENST00000513601.2:c.345G>C	15.37:g.83677321C>G	ENSP00000424666:p.Lys115Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NIC9|B2R5E7|F5GX92|F8WD31|G5EA00	Missense_Mutation	SNP	pfam_DUF167,superfamily_DUF167	p.K115N	ENST00000513601.2	37	c.345	CCDS32312.2	15	.	.	.	.	.	.	.	.	.	.	C	23.7	4.446310	0.84101	.	.	ENSG00000169609	ENST00000538348;ENST00000451195;ENST00000304177;ENST00000513601	.	.	.	5.54	5.54	0.83059	.	0.094319	0.64402	D	0.000001	D	0.86756	0.6009	M	0.93016	3.37	0.58432	D	0.99999	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.80764	0.986;0.994;0.983;0.976	D	0.89263	0.3599	9	0.87932	D	0	-12.2852	19.8453	0.96705	0.0:1.0:0.0:0.0	.	88;115;115;115	Q8WUR7;F8WD31;F5GX92;G5EA00	CO040_HUMAN;.;.;.	N	115;115;88;115	.	ENSP00000307071:K88N	K	-	3	2	C15orf40	81468325	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.297000	0.59061	2.754000	0.94517	0.655000	0.94253	AAG	C15orf40	-	pfam_DUF167,superfamily_DUF167	ENSG00000169609		0.473	C15orf40-001	KNOWN	basic|CCDS	protein_coding	C15orf40	HGNC	protein_coding	OTTHUMT00000360737.2	63	0.00	0	C	NM_144597		83677321	83677321	-1	no_errors	ENST00000451195	ensembl	human	known	69_37n	missense	45	22.41	13	SNP	1.000	G
C16orf72	29035	genome.wustl.edu	37	16	9210739	9210739	+	Silent	SNP	A	A	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:9210739A>C	ENST00000327827.7	+	4	1195	c.798A>C	c.(796-798)tcA>tcC	p.S266S		NM_014117.2	NP_054836.2	Q14CZ0	CP072_HUMAN	chromosome 16 open reading frame 72	266										endometrium(4)|large_intestine(2)|lung(2)	8						TTACAGACTCACCAACCCATA	0.423																																						dbGAP											0													167.0	134.0	145.0					16																	9210739		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			AK123266	CCDS10538.1	16p13.2	2012-11-19			ENSG00000182831	ENSG00000182831			30103	protein-coding gene	gene with protein product						8889548	Standard	NM_014117		Approved	FLJ41272, PRO0149	uc002czm.3	Q14CZ0	OTTHUMG00000178147	ENST00000327827.7:c.798A>C	16.37:g.9210739A>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.S266	ENST00000327827.7	37	c.798	CCDS10538.1	16																																																																																			C16orf72	-	NULL	ENSG00000182831		0.423	C16orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf72	HGNC	protein_coding	OTTHUMT00000440760.2	35	0.00	0	A	NM_014117		9210739	9210739	+1	no_errors	ENST00000327827	ensembl	human	known	69_37n	silent	28	33.33	14	SNP	1.000	C
C16orf91	283951	genome.wustl.edu	37	16	1470078	1470078	+	3'UTR	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:1470078G>C	ENST00000442039.2	-	0	644				C16orf91_ENST00000563974.1_3'UTR|C16orf91_ENST00000310355.1_Missense_Mutation_p.L313V	NM_001272051.1	NP_001258980.1	Q4G0I0	CSMT1_HUMAN	chromosome 16 open reading frame 91							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						GATCTGCTGAGATTCTGCTCC	0.552																																						dbGAP											0													117.0	109.0	112.0					16																	1470078		2199	4300	6499	-	-	-	SO:0001624	3_prime_UTR_variant	0			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.*169C>G	16.37:g.1470078G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96RZ0	Missense_Mutation	SNP	prints_CCSMST1	p.L313V	ENST00000442039.2	37	c.937		16	.	.	.	.	.	.	.	.	.	.	G	16.38	3.106507	0.56291	.	.	ENSG00000174109	ENST00000310355	.	.	.	4.2	-7.28	0.01456	.	.	.	.	.	T	0.29652	0.0740	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.44128	-0.9348	5	0.87932	D	0	1.0889	2.2909	0.04138	0.1033:0.2142:0.3473:0.3353	.	.	.	.	V	313	.	ENSP00000311390:L313V	L	-	1	0	C16orf91	1410079	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.295000	0.01143	-1.234000	0.02548	-0.211000	0.12701	CTC	C16orf91	-	NULL	ENSG00000174109		0.552	C16orf91-001	KNOWN	basic|appris_principal	protein_coding	C16orf91	HGNC	protein_coding	OTTHUMT00000432502.1	40	0.00	0	G	NM_001010878		1470078	1470078	-1	no_errors	ENST00000310355	ensembl	human	known	69_37n	missense	81	18.00	18	SNP	0.000	C
C16orf96	342346	genome.wustl.edu	37	16	4606738	4606738	+	Missense_Mutation	SNP	A	A	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:4606738A>C	ENST00000444310.4	+	1	248	c.248A>C	c.(247-249)cAc>cCc	p.H83P		NM_001145011.1	NP_001138483.1			chromosome 16 open reading frame 96											NS(1)|breast(1)|endometrium(6)|kidney(1)|skin(3)	12						GTCTTCGACCACGTGGTGAGC	0.637																																						dbGAP											0													50.0	59.0	57.0					16																	4606738		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS53986.1	16p13.3	2012-10-10			ENSG00000205832	ENSG00000205832			40031	protein-coding gene	gene with protein product							Standard	NM_001145011		Approved		uc010uxn.2	A6NNT2	OTTHUMG00000176519	ENST00000444310.4:c.248A>C	16.37:g.4606738A>C	ENSP00000415027:p.His83Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.H83P	ENST00000444310.4	37	c.248	CCDS53986.1	16	.	.	.	.	.	.	.	.	.	.	A	7.130	0.579723	0.13686	.	.	ENSG00000205832	ENST00000444310	T	0.23348	1.91	5.35	0.302	0.15786	.	0.508177	0.18219	N	0.147931	T	0.18087	0.0434	L	0.51422	1.61	0.09310	N	1	B	0.20988	0.05	B	0.24006	0.05	T	0.26608	-1.0098	10	0.66056	D	0.02	-3.1181	0.6204	0.00777	0.4678:0.1763:0.1866:0.1693	.	83	A6NNT2	CP096_HUMAN	P	83	ENSP00000415027:H83P	ENSP00000415027:H83P	H	+	2	0	C16orf96	4546739	0.739000	0.28196	0.117000	0.21633	0.035000	0.12851	1.358000	0.34102	0.397000	0.25310	0.533000	0.62120	CAC	C16orf96	-	NULL	ENSG00000205832		0.637	C16orf96-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C16orf96	HGNC	protein_coding	OTTHUMT00000432384.1	19	0.00	0	A	NM_001145011		4606738	4606738	+1	no_errors	ENST00000444310	ensembl	human	known	69_37n	missense	23	28.12	9	SNP	0.090	C
C16orf89	146556	genome.wustl.edu	37	16	5105257	5105257	+	Silent	SNP	G	G	A	rs528802108		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:5105257G>A	ENST00000315997.5	-	6	1059	c.858C>T	c.(856-858)ttC>ttT	p.F286F	C16orf89_ENST00000422873.1_Silent_p.F324F|C16orf89_ENST00000474471.3_Silent_p.F318F|C16orf89_ENST00000472572.3_Silent_p.F286F|ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000350219.4_Silent_p.F324F	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN	chromosome 16 open reading frame 89	286						cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						CAGGCTCCCCGAAGCATCCTT	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		14347	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													26.0	28.0	27.0					16																	5105257		1967	4158	6125	-	-	-	SO:0001819	synonymous_variant	0				CCDS42116.1, CCDS45404.1, CCDS42116.2, CCDS45404.2	16p13.3	2011-12-12			ENSG00000153446	ENSG00000153446			28687	protein-coding gene	gene with protein product						12975309, 20578903	Standard	NM_001098514		Approved	MGC45438	uc010bud.3	Q6UX73	OTTHUMG00000159314	ENST00000315997.5:c.858C>T	16.37:g.5105257G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DUM5|Q8N2I3|Q8N4T1	Silent	SNP	NULL	p.F324	ENST00000315997.5	37	c.972	CCDS42116.2	16																																																																																			C16orf89	-	NULL	ENSG00000153446		0.597	C16orf89-001	KNOWN	upstream_ATG|basic|CCDS	protein_coding	C16orf89	HGNC	protein_coding	OTTHUMT00000354524.1	25	0.00	0	G	NM_152459		5105257	5105257	-1	no_errors	ENST00000350219	ensembl	human	known	69_37n	silent	23	25.81	8	SNP	0.846	A
C16orf89	146556	genome.wustl.edu	37	16	5108498	5108498	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:5108498C>T	ENST00000315997.5	-	4	824	c.623G>A	c.(622-624)aGa>aAa	p.R208K	C16orf89_ENST00000422873.1_Missense_Mutation_p.R246K|C16orf89_ENST00000474471.3_Missense_Mutation_p.R208K|C16orf89_ENST00000472572.3_Missense_Mutation_p.R208K|ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000350219.4_Missense_Mutation_p.R246K	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN	chromosome 16 open reading frame 89	208						cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						ACTCACCATTCTGGCCCAGAG	0.632																																						dbGAP											0													38.0	45.0	43.0					16																	5108498		1926	4120	6046	-	-	-	SO:0001583	missense	0				CCDS42116.1, CCDS45404.1, CCDS42116.2, CCDS45404.2	16p13.3	2011-12-12			ENSG00000153446	ENSG00000153446			28687	protein-coding gene	gene with protein product						12975309, 20578903	Standard	NM_001098514		Approved	MGC45438	uc010bud.3	Q6UX73	OTTHUMG00000159314	ENST00000315997.5:c.623G>A	16.37:g.5108498C>T	ENSP00000324672:p.Arg208Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DUM5|Q8N2I3|Q8N4T1	Missense_Mutation	SNP	NULL	p.R246K	ENST00000315997.5	37	c.737	CCDS42116.2	16	.	.	.	.	.	.	.	.	.	.	C	15.04	2.713790	0.48622	.	.	ENSG00000153446	ENST00000474471;ENST00000472572;ENST00000477550;ENST00000422873;ENST00000350219;ENST00000315997	T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53	5.14	4.09	0.47781	.	0.447093	0.24321	N	0.039558	T	0.21022	0.0506	L	0.42581	1.335	0.23546	N	0.997441	B;B	0.29136	0.15;0.234	B;B	0.25506	0.027;0.061	T	0.07635	-1.0762	10	0.27082	T	0.32	-34.2276	5.6768	0.17753	0.0:0.8295:0.0:0.1705	.	208;246	Q6UX73;G3V0F0	CP089_HUMAN;.	K	208;208;208;246;246;208	ENSP00000417158:R208K;ENSP00000420566:R208K;ENSP00000390402:R246K;ENSP00000283478:R246K;ENSP00000324672:R208K	ENSP00000324672:R208K	R	-	2	0	C16orf89	5048499	0.997000	0.39634	0.781000	0.31783	0.438000	0.31896	1.426000	0.34870	2.396000	0.81511	0.455000	0.32223	AGA	C16orf89	-	NULL	ENSG00000153446		0.632	C16orf89-001	KNOWN	upstream_ATG|basic|CCDS	protein_coding	C16orf89	HGNC	protein_coding	OTTHUMT00000354524.1	34	0.00	0	C	NM_152459		5108498	5108498	-1	no_errors	ENST00000350219	ensembl	human	known	69_37n	missense	31	20.51	8	SNP	0.802	T
CFAP20	29105	genome.wustl.edu	37	16	58148822	58148822	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:58148822G>A	ENST00000262498.3	-	5	802	c.468C>T	c.(466-468)atC>atT	p.I156I	C16orf80_ENST00000562443.1_5'Flank|CTB-134F13.1_ENST00000564672.1_RNA	NM_013242.2	NP_037374.1														kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						AATTTGCATGGATCTGTCAAG	0.488																																					Pancreas(103;1212 1612 18629 30162 52390)	dbGAP											0													90.0	88.0	89.0					16																	58148822		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0																														ENST00000262498.3:c.468C>T	16.37:g.58148822G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_DUF667	p.I156	ENST00000262498.3	37	c.468	CCDS10793.1	16																																																																																			C16orf80	-	pfam_DUF667	ENSG00000070761		0.488	C16orf80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf80	HGNC	protein_coding	OTTHUMT00000257388.2	86	0.00	0	G			58148822	58148822	-1	no_errors	ENST00000262498	ensembl	human	known	69_37n	silent	41	26.79	15	SNP	1.000	A
C17orf49	124944	genome.wustl.edu	37	17	6920285	6920285	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:6920285G>C	ENST00000439424.2	+	5	542	c.466G>C	c.(466-468)Gaa>Caa	p.E156Q	RNASEK-C17orf49_ENST00000547302.2_Missense_Mutation_p.L196F|C17orf49_ENST00000552402.1_Missense_Mutation_p.E122Q|AC040977.1_ENST00000593646.1_5'Flank|RP11-589P10.7_ENST00000572547.1_RNA|MIR497HG_ENST00000572453.1_RNA|C17orf49_ENST00000546495.1_Missense_Mutation_p.E156Q|MIR497HG_ENST00000385194.1_RNA|MIR497HG_ENST00000443997.1_RNA|MIR497HG_ENST00000385056.1_RNA|C17orf49_ENST00000546760.1_Intron|C17orf49_ENST00000547709.1_Intron|C17orf49_ENST00000552775.1_Missense_Mutation_p.E130Q	NM_001142798.2|NM_174893.3	NP_001136270.1|NP_777553.1	Q8IXM2	BAP18_HUMAN	chromosome 17 open reading frame 49	156					chromatin modification (GO:0016568)	MLL1 complex (GO:0071339)|NURF complex (GO:0016589)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			kidney(1)|large_intestine(2)|ovary(1)	4						GGTGGATATTGAAGGGCTAGG	0.557																																						dbGAP											0													143.0	136.0	138.0					17																	6920285		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK055800	CCDS32542.1, CCDS45595.1, CCDS45596.1	17p13.1	2013-02-11			ENSG00000258315	ENSG00000258315			28737	protein-coding gene	gene with protein product	"""BPTF associated protein of 18 kDa"", ""human embryo lung cellular protein interacting with SARS-CoV nsp-10"""						Standard	NM_174893		Approved	MGC49942, BAP18, HEPIS		Q8IXM2	OTTHUMG00000170147	ENST00000439424.2:c.466G>C	17.37:g.6920285G>C	ENSP00000411851:p.Glu156Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DIV3|C9J4G0|E9PB29	Missense_Mutation	SNP	superfamily_Homeodomain-like	p.E156Q	ENST00000439424.2	37	c.466	CCDS32542.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.0|25.0	4.594166|4.594166	0.86953|0.86953	.|.	.|.	ENSG00000161939;ENSG00000161939;ENSG00000258315;ENSG00000258315;ENSG00000258315;ENSG00000258315|ENSG00000161939	ENST00000293804;ENST00000455303;ENST00000546495;ENST00000552402;ENST00000439424;ENST00000552775|ENST00000547302	.|.	.|.	.|.	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75428|0.75428	0.3848|0.3848	M|M	0.74881|0.74881	2.28|2.28	.|.	.|.	.|.	D;D;D;D|.	0.76494|.	0.999;0.971;0.999;0.99|.	D;P;D;P|.	0.71656|.	0.952;0.701;0.974;0.836|.	T|T	0.77387|0.77387	-0.2607|-0.2607	8|4	0.87932|.	D|.	0|.	-14.6023|-14.6023	16.4337|16.4337	0.83864|0.83864	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	122;156;156;130|.	E9PB29;C9J4G0;Q8IXM2;F8W1H0|.	.;.;BAP18_HUMAN;.|.	Q|F	156;122;156;122;156;130|196	.|.	ENSP00000411851:E156Q|.	E|L	+|+	1|3	0|2	AC040977.1;C17orf49|C17orf49	6861009|6861009	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	6.752000|6.752000	0.74898|0.74898	2.473000|2.473000	0.83533|0.83533	0.655000|0.655000	0.94253|0.94253	GAA|TTG	C17orf49	-	NULL	ENSG00000258315		0.557	C17orf49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf49	Clone_based_vega_gene	protein_coding	OTTHUMT00000407666.1	59	0.00	0	G	NM_174893		6920285	6920285	+1	no_errors	ENST00000546495	ensembl	human	known	69_37n	missense	63	11.27	8	SNP	1.000	C
C17orf59	54785	genome.wustl.edu	37	17	8092474	8092474	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:8092474C>T	ENST00000389017.4	-	1	1090	c.985G>A	c.(985-987)Gag>Aag	p.E329K	MIR3676_ENST00000579470.1_RNA	NM_017622.2	NP_060092.2	Q96GS4	CQ059_HUMAN	chromosome 17 open reading frame 59	329										large_intestine(2)|lung(3)|urinary_tract(1)	6						AGAGCCCGCTCCAGCTCCTCG	0.627																																						dbGAP											0													47.0	49.0	48.0					17																	8092474		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC018880	CCDS11133.2	17p13.1	2005-12-16			ENSG00000196544	ENSG00000196544			25939	protein-coding gene	gene with protein product						12477932	Standard	NM_017622		Approved	FLJ20014	uc010vut.2	Q96GS4	OTTHUMG00000153930	ENST00000389017.4:c.985G>A	17.37:g.8092474C>T	ENSP00000373669:p.Glu329Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53HS4|Q9NXW8	Missense_Mutation	SNP	pfam_DUF2365	p.E329K	ENST00000389017.4	37	c.985	CCDS11133.2	17	.	.	.	.	.	.	.	.	.	.	C	32	5.159298	0.94686	.	.	ENSG00000196544	ENST00000389017	.	.	.	5.49	5.49	0.81192	.	0.056863	0.64402	D	0.000002	T	0.52451	0.1735	N	0.08118	0	0.49915	D	0.999838	D	0.71674	0.998	D	0.69824	0.966	T	0.59247	-0.7490	9	0.46703	T	0.11	-18.4373	14.862	0.70389	0.0:1.0:0.0:0.0	.	329	Q96GS4	CQ059_HUMAN	K	329	.	ENSP00000373669:E329K	E	-	1	0	C17orf59	8033199	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.027000	0.76463	2.581000	0.87130	0.561000	0.74099	GAG	C17orf59	-	pfam_DUF2365	ENSG00000196544		0.627	C17orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf59	HGNC	protein_coding	OTTHUMT00000333072.1	19	0.00	0	C	NM_017622		8092474	8092474	-1	no_errors	ENST00000389017	ensembl	human	known	69_37n	missense	8	52.94	9	SNP	1.000	T
C17orf104	284071	genome.wustl.edu	37	17	42751493	42751493	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:42751493G>C	ENST00000409122.2	+	8	2930	c.2788G>C	c.(2788-2790)Gaa>Caa	p.E930Q	RP11-1072C15.4_ENST00000591628.1_RNA	NM_001145080.2	NP_001138552.2	A2RUB1	CQ104_HUMAN	chromosome 17 open reading frame 104	930										autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						AGTAAACTGTGAAGATAAAGT	0.403																																						dbGAP											0													109.0	84.0	92.0					17																	42751493		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS45703.1, CCDS45703.2	17q21.31	2009-09-08			ENSG00000180336	ENSG00000180336			26670	protein-coding gene	gene with protein product							Standard	NM_001145080		Approved	FLJ35848	uc002iha.3	A2RUB1	OTTHUMG00000153039	ENST00000409122.2:c.2788G>C	17.37:g.42751493G>C	ENSP00000386452:p.Glu930Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DXJ2|B5MD93|B9EGQ6|C4AM97|Q4G0Y1|Q8IVZ7|Q8NA45	Missense_Mutation	SNP	NULL	p.E930Q	ENST00000409122.2	37	c.2788	CCDS45703.2	17	.	.	.	.	.	.	.	.	.	.	G	10.13	1.265181	0.23136	.	.	ENSG00000180336	ENST00000409122	T	0.35789	1.29	5.96	5.96	0.96718	.	.	.	.	.	T	0.28433	0.0703	N	0.14661	0.345	0.80722	D	1	B	0.29590	0.25	B	0.34489	0.184	T	0.12192	-1.0557	9	0.66056	D	0.02	-28.4608	15.8525	0.78943	0.0:0.1348:0.8652:0.0	.	930	A2RUB1	CQ104_HUMAN	Q	930	ENSP00000386452:E930Q	ENSP00000386452:E930Q	E	+	1	0	C17orf104	40107019	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.013000	0.49582	2.832000	0.97577	0.655000	0.94253	GAA	C17orf104	-	NULL	ENSG00000180336		0.403	C17orf104-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf104	HGNC	protein_coding	OTTHUMT00000329171.2	80	0.00	0	G	NM_001145080		42751493	42751493	+1	no_errors	ENST00000409122	ensembl	human	known	69_37n	missense	28	42.86	21	SNP	1.000	C
C17orf64	124773	genome.wustl.edu	37	17	58506783	58506783	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:58506783C>G	ENST00000269127.4	+	5	574	c.490C>G	c.(490-492)Ctg>Gtg	p.L164V		NM_181707.2	NP_859058.2	Q86WR6	CQ064_HUMAN	chromosome 17 open reading frame 64	164										breast(2)|large_intestine(1)|lung(3)	6	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;5.81e-13)|all cancers(12;2.17e-11)|Colorectal(3;0.01)			GGAAGACAGTCTGCCCAAGCT	0.622																																						dbGAP											0													47.0	47.0	47.0					17																	58506783		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC048806	CCDS32698.2	17q23.2	2005-12-16			ENSG00000141371	ENSG00000141371			26990	protein-coding gene	gene with protein product						12477932	Standard	NM_181707		Approved		uc002iyq.3	Q86WR6	OTTHUMG00000157171	ENST00000269127.4:c.490C>G	17.37:g.58506783C>G	ENSP00000269127:p.Leu164Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IY87	Missense_Mutation	SNP	NULL	p.L164V	ENST00000269127.4	37	c.490	CCDS32698.2	17	.	.	.	.	.	.	.	.	.	.	C	14.38	2.517530	0.44763	.	.	ENSG00000141371	ENST00000269127	.	.	.	4.89	4.89	0.63831	.	0.000000	0.41097	D	0.000956	T	0.74336	0.3703	M	0.73598	2.24	0.33592	D	0.601214	D	0.76494	0.999	D	0.78314	0.991	T	0.82971	-0.0192	9	0.66056	D	0.02	-10.0148	13.5718	0.61851	0.0:1.0:0.0:0.0	.	164	Q86WR6	CQ064_HUMAN	V	164	.	ENSP00000269127:L164V	L	+	1	2	C17orf64	55861565	0.984000	0.35163	0.986000	0.45419	0.284000	0.27059	3.338000	0.52128	2.252000	0.74401	0.561000	0.74099	CTG	C17orf64	-	NULL	ENSG00000141371		0.622	C17orf64-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	C17orf64	HGNC	protein_coding	OTTHUMT00000347743.1	22	0.00	0	C	NM_181707		58506783	58506783	+1	no_errors	ENST00000269127	ensembl	human	known	69_37n	missense	107	24.11	34	SNP	0.984	G
C17orf85	55421	genome.wustl.edu	37	17	3721701	3721701	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:3721701G>C	ENST00000389005.4	-	10	1193	c.1166C>G	c.(1165-1167)tCt>tGt	p.S389C	C17orf85_ENST00000158149.3_Missense_Mutation_p.S109C	NM_001114118.2	NP_001107590.1	Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85	389							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		GGATCGTCTAGACGCGCTCCG	0.517																																						dbGAP											0													93.0	91.0	92.0					17																	3721701		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS45578.1	17p13.2	2012-10-23			ENSG00000074356	ENSG00000074356			24612	protein-coding gene	gene with protein product	"""ELG protein"""					11412301	Standard	NM_001114118		Approved	HSA277841, ELG	uc010ckl.2	Q53F19	OTTHUMG00000177672	ENST00000389005.4:c.1166C>G	17.37:g.3721701G>C	ENSP00000373657:p.Ser389Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWG7|Q7L406|Q96FK1|Q9NXZ4	Missense_Mutation	SNP	pfam_DUF2414	p.S389C	ENST00000389005.4	37	c.1166	CCDS45578.1	17	.	.	.	.	.	.	.	.	.	.	G	9.929	1.214218	0.22289	.	.	ENSG00000074356	ENST00000389005;ENST00000158149	.	.	.	5.85	5.85	0.93711	.	0.289894	0.38492	N	0.001661	T	0.45856	0.1363	N	0.24115	0.695	0.09310	N	1	D	0.61697	0.99	P	0.56700	0.804	T	0.41342	-0.9514	9	0.59425	D	0.04	-2.5572	16.0378	0.80642	0.0:0.0:1.0:0.0	.	389	Q53F19	CQ085_HUMAN	C	389;109	.	ENSP00000158149:S109C	S	-	2	0	C17orf85	3668450	1.000000	0.71417	0.058000	0.19502	0.045000	0.14185	5.143000	0.64826	2.941000	0.99782	0.655000	0.94253	TCT	C17orf85	-	NULL	ENSG00000074356		0.517	C17orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf85	HGNC	protein_coding	OTTHUMT00000438385.1	73	0.00	0	G	NM_018553		3721701	3721701	-1	no_errors	ENST00000389005	ensembl	human	known	69_37n	missense	51	23.88	16	SNP	0.116	C
C17orf85	55421	genome.wustl.edu	37	17	3732634	3732634	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:3732634G>C	ENST00000389005.4	-	4	411	c.384C>G	c.(382-384)atC>atG	p.I128M	C17orf85_ENST00000158149.3_De_novo_Start_InFrame	NM_001114118.2	NP_001107590.1	Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85	128							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		CGCAAATATAGATTGTCTCCA	0.428																																						dbGAP											0													190.0	159.0	169.0					17																	3732634		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS45578.1	17p13.2	2012-10-23			ENSG00000074356	ENSG00000074356			24612	protein-coding gene	gene with protein product	"""ELG protein"""					11412301	Standard	NM_001114118		Approved	HSA277841, ELG	uc010ckl.2	Q53F19	OTTHUMG00000177672	ENST00000389005.4:c.384C>G	17.37:g.3732634G>C	ENSP00000373657:p.Ile128Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWG7|Q7L406|Q96FK1|Q9NXZ4	Missense_Mutation	SNP	pfam_DUF2414	p.I128M	ENST00000389005.4	37	c.384	CCDS45578.1	17	.	.	.	.	.	.	.	.	.	.	G	17.49	3.402537	0.62288	.	.	ENSG00000074356	ENST00000389005	.	.	.	5.61	5.61	0.85477	.	0.207411	0.45126	D	0.000381	T	0.64057	0.2564	L	0.42245	1.32	0.80722	D	1	D	0.56521	0.976	P	0.59948	0.866	T	0.65265	-0.6210	9	0.72032	D	0.01	-10.4913	10.8753	0.46906	0.0851:0.0:0.9149:0.0	.	128	Q53F19	CQ085_HUMAN	M	128	.	ENSP00000373657:I128M	I	-	3	3	C17orf85	3679383	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.876000	0.48498	2.826000	0.97356	0.655000	0.94253	ATC	C17orf85	-	pfam_DUF2414	ENSG00000074356		0.428	C17orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf85	HGNC	protein_coding	OTTHUMT00000438385.1	93	0.00	0	G	NM_018553		3732634	3732634	-1	no_errors	ENST00000389005	ensembl	human	known	69_37n	missense	81	25.00	27	SNP	1.000	C
C17orf80	55028	genome.wustl.edu	37	17	71231832	71231832	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:71231832G>C	ENST00000535032.2	+	2	324	c.211G>C	c.(211-213)Gag>Cag	p.E71Q	FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000268942.8_Missense_Mutation_p.E71Q|C17orf80_ENST00000577615.1_Missense_Mutation_p.E71Q|C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000359042.2_Missense_Mutation_p.E71Q|C17orf80_ENST00000255557.4_Missense_Mutation_p.E71Q|C17orf80_ENST00000426147.2_Missense_Mutation_p.E71Q			Q9BSJ5	CQ080_HUMAN	chromosome 17 open reading frame 80	71						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(166;0.197)			GAAAGAGTTAGAGACAGAGAA	0.408																																						dbGAP											0													57.0	55.0	56.0					17																	71231832		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY163812	CCDS11694.1, CCDS42377.1, CCDS45767.1, CCDS74145.1	17q25.1	2012-02-24	2012-02-24	2012-02-24	ENSG00000141219	ENSG00000141219			29601	protein-coding gene	gene with protein product	"""sperm-expressed protein 1"", ""migration-inducing protein 3"""					12477932	Standard	NM_017941		Approved	HLC-8, MIG3, FLJ20721, SPEP1	uc002jjl.4	Q9BSJ5		ENST00000535032.2:c.211G>C	17.37:g.71231832G>C	ENSP00000440551:p.Glu71Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9X3|Q5JB45|Q6YAU3|Q9H0L9|Q9H5E6|Q9NWN5	Missense_Mutation	SNP	NULL	p.E71Q	ENST00000535032.2	37	c.211	CCDS11694.1	17	.	.	.	.	.	.	.	.	.	.	G	20.5	4.003651	0.74932	.	.	ENSG00000141219	ENST00000255557;ENST00000359042;ENST00000268942;ENST00000426147;ENST00000535032	T;T;T;T;T	0.12879	2.64;2.83;2.64;2.84;2.83	5.25	0.573	0.17363	.	0.836724	0.10425	N	0.676142	T	0.16727	0.0402	L	0.46157	1.445	0.09310	N	1	P;P;P;P	0.51933	0.902;0.949;0.949;0.949	P;P;P;P	0.51701	0.498;0.677;0.602;0.677	T	0.17077	-1.0381	10	0.39692	T	0.17	-2.7769	4.2979	0.10910	0.0857:0.2825:0.4861:0.1458	.	71;71;71;71	B7Z7E5;Q9BSJ5;Q9BSJ5-2;Q9BSJ5-3	.;CQ080_HUMAN;.;.	Q	71	ENSP00000255557:E71Q;ENSP00000351937:E71Q;ENSP00000268942:E71Q;ENSP00000396970:E71Q;ENSP00000440551:E71Q	ENSP00000255557:E71Q	E	+	1	0	C17orf80	68743427	0.018000	0.18449	0.001000	0.08648	0.893000	0.52053	0.479000	0.22228	0.282000	0.22254	0.561000	0.74099	GAG	C17orf80	-	NULL	ENSG00000141219		0.408	C17orf80-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C17orf80	HGNC	protein_coding	OTTHUMT00000441893.1	39	0.00	0	G	NM_017941		71231832	71231832	+1	no_errors	ENST00000359042	ensembl	human	known	69_37n	missense	68	15.00	12	SNP	0.000	C
CCDC178	374864	genome.wustl.edu	37	18	30873229	30873229	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr18:30873229G>A	ENST00000383096.3	-	12	1252	c.1070C>T	c.(1069-1071)tCa>tTa	p.S357L	CCDC178_ENST00000402325.1_Missense_Mutation_p.S357L|CCDC178_ENST00000579947.1_Missense_Mutation_p.S357L|CCDC178_ENST00000403303.1_Missense_Mutation_p.S357L|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000406524.2_Missense_Mutation_p.S357L|CCDC178_ENST00000300227.8_Missense_Mutation_p.S357L|CCDC178_ENST00000583930.1_Missense_Mutation_p.S357L			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	357																	ATTTATCACTGATGAAGAGTA	0.279																																						dbGAP											0													96.0	91.0	93.0					18																	30873229		2199	4285	6484	-	-	-	SO:0001583	missense	0			AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.1070C>T	18.37:g.30873229G>A	ENSP00000372576:p.Ser357Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	NULL	p.S357L	ENST00000383096.3	37	c.1070	CCDS42424.1	18	.	.	.	.	.	.	.	.	.	.	G	8.367	0.834528	0.16820	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325	T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64	3.59	1.72	0.24424	.	.	.	.	.	T	0.30634	0.0771	L	0.46157	1.445	0.09310	N	1	P;B;B;B	0.50819	0.939;0.077;0.077;0.077	P;B;B;B	0.50934	0.654;0.031;0.031;0.031	T	0.10520	-1.0626	9	0.31617	T	0.26	-2.6714	4.1446	0.10210	0.1229:0.0:0.6479:0.2292	.	357;357;357;357	F8W7A7;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;CR034_HUMAN	L	357	ENSP00000385591:S357L;ENSP00000372576:S357L;ENSP00000300227:S357L;ENSP00000385867:S357L;ENSP00000385234:S357L	ENSP00000300227:S357L	S	-	2	0	C18orf34	29127227	0.007000	0.16637	0.001000	0.08648	0.024000	0.10985	1.399000	0.34566	0.458000	0.26988	0.491000	0.48974	TCA	C18orf34	-	NULL	ENSG00000166960		0.279	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C18orf34	HGNC	protein_coding	OTTHUMT00000255373.2	190	0.00	0	G	NM_198995		30873229	30873229	-1	no_errors	ENST00000406524	ensembl	human	known	69_37n	missense	72	35.71	40	SNP	0.001	A
DYNAP	284254	genome.wustl.edu	37	18	52265215	52265215	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr18:52265215G>C	ENST00000321600.1	+	3	518	c.472G>C	c.(472-474)Gtg>Ctg	p.V158L	DYNAP_ENST00000585973.1_Missense_Mutation_p.V106L	NM_173629.1	NP_775900.1	Q8N1N2	DYNAP_HUMAN	dynactin associated protein	158					activation of protein kinase B activity (GO:0032148)|cellular response to ergosterol (GO:1901625)|positive regulation of cell proliferation (GO:0008284)|regulation of apoptotic process (GO:0042981)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											TGGAGAGTGTGTGACTGTCAA	0.438																																						dbGAP											0													161.0	133.0	143.0					18																	52265215		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK096425	CCDS11957.1	18q21.2	2012-10-24	2012-10-24	2012-10-24	ENSG00000178690	ENSG00000178690			26808	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 26"""	C18orf26		20978158	Standard	NM_173629		Approved	FLJ39106	uc002lfq.1	Q8N1N2	OTTHUMG00000132709	ENST00000321600.1:c.472G>C	18.37:g.52265215G>C	ENSP00000315265:p.Val158Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.V158L	ENST00000321600.1	37	c.472	CCDS11957.1	18	.	.	.	.	.	.	.	.	.	.	G	8.957	0.969669	0.18659	.	.	ENSG00000178690	ENST00000321600	T	0.36340	1.26	2.11	-1.27	0.09347	.	2.713070	0.01532	N	0.018842	T	0.30696	0.0773	L	0.44542	1.39	0.09310	N	1	B	0.14805	0.011	B	0.06405	0.002	T	0.19095	-1.0316	10	0.46703	T	0.11	.	5.4617	0.16619	0.5386:0.0:0.4614:0.0	.	158	Q8N1N2	CR026_HUMAN	L	158	ENSP00000315265:V158L	ENSP00000315265:V158L	V	+	1	0	C18orf26	50416213	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.149000	0.10204	-0.348000	0.08286	-0.379000	0.06801	GTG	C18orf26	-	NULL	ENSG00000178690		0.438	DYNAP-001	KNOWN	basic|CCDS	protein_coding	C18orf26	HGNC	protein_coding	OTTHUMT00000256007.1	100	0.00	0	G	NM_173629		52265215	52265215	+1	no_errors	ENST00000321600	ensembl	human	known	69_37n	missense	46	35.21	25	SNP	0.000	C
C19orf57	79173	genome.wustl.edu	37	19	14006307	14006307	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:14006307G>A	ENST00000586783.1	-	2	83	c.84C>T	c.(82-84)ttC>ttT	p.F28F	C19orf57_ENST00000346736.2_Silent_p.F28F|C19orf57_ENST00000591586.1_Silent_p.F28F|C19orf57_ENST00000454313.1_Silent_p.F28F			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	28					multicellular organismal development (GO:0007275)					breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GGTCCCCATAGAAGTCTCCTA	0.552																																						dbGAP											0													172.0	183.0	179.0					19																	14006307		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC012945	CCDS12299.1	19p13.12	2012-10-26			ENSG00000132016	ENSG00000132016			28153	protein-coding gene	gene with protein product						8228263	Standard	NM_024323		Approved	MGC11271	uc002mxl.1	Q0VDD7	OTTHUMG00000181851	ENST00000586783.1:c.84C>T	19.37:g.14006307G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q13411|Q8N825|Q96D63|Q9BU49	Silent	SNP	NULL	p.F28	ENST00000586783.1	37	c.84		19																																																																																			C19orf57	-	NULL	ENSG00000132016		0.552	C19orf57-003	NOVEL	basic	protein_coding	C19orf57	HGNC	protein_coding	OTTHUMT00000457947.1	89	0.00	0	G	NM_024323		14006307	14006307	-1	no_errors	ENST00000454313	ensembl	human	known	69_37n	silent	79	28.18	31	SNP	0.000	A
PROSER3	148137	genome.wustl.edu	37	19	36257746	36257746	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:36257746G>C	ENST00000544099.1	+	8	910	c.847G>C	c.(847-849)Gag>Cag	p.E283Q	C19orf55_ENST00000396908.4_Missense_Mutation_p.E283Q|AC002398.13_ENST00000589397.1_RNA			Q2NL68	PRSR3_HUMAN		283										cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCTTCGGCCAGAGGATGACAT	0.667																																						dbGAP											0													14.0	16.0	15.0					19																	36257746		1887	3984	5871	-	-	-	SO:0001583	missense	0																														ENST00000544099.1:c.847G>C	19.37:g.36257746G>C	ENSP00000467267:p.Glu283Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NDI3|Q8WWC8|Q96NL4	Missense_Mutation	SNP	NULL	p.E283Q	ENST00000544099.1	37	c.847		19	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896140	0.72639	.	.	ENSG00000167595	ENST00000396908	T	0.62498	0.02	4.01	4.01	0.46588	.	0.000000	0.36200	N	0.002727	T	0.75110	0.3805	M	0.66939	2.045	0.31064	N	0.713818	D	0.89917	1.0	D	0.83275	0.996	T	0.76375	-0.2982	10	0.72032	D	0.01	-22.3223	11.8218	0.52242	0.0:0.0:1.0:0.0	.	283	E5RFB9	.	Q	283	ENSP00000380116:E283Q	ENSP00000380116:E283Q	E	+	1	0	C19orf55	40949586	0.996000	0.38824	0.999000	0.59377	0.759000	0.43091	2.221000	0.42917	2.220000	0.72140	0.313000	0.20887	GAG	C19orf55	-	NULL	ENSG00000167595		0.667	C19orf55-001	KNOWN	basic	protein_coding	C19orf55	HGNC	protein_coding	OTTHUMT00000398160.2	24	0.00	0	G			36257746	36257746	+1	no_errors	ENST00000396908	ensembl	human	known	69_37n	missense	33	19.51	8	SNP	1.000	C
C1QTNF3	114899	genome.wustl.edu	37	5	34043072	34043072	+	Intron	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:34043072C>T	ENST00000231338.7	-	1	172				RP11-1084J3.4_ENST00000382079.3_Intron|C1QTNF3_ENST00000382065.3_Silent_p.R53R	NM_030945.3	NP_112207.1	Q9BXJ4	C1QT3_HUMAN	C1q and tumor necrosis factor related protein 3						cellular triglyceride homeostasis (GO:0035356)|fat cell differentiation (GO:0045444)|negative regulation of gene expression (GO:0010629)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of monocyte chemotactic protein-1 production (GO:0071638)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of adiponectin secretion (GO:0070165)|positive regulation of cytokine secretion (GO:0050715)|protein trimerization (GO:0070206)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1)	17	all_lung(31;0.0207)					CTTTCTCCCTCCTGGAGCCGC	0.507																																						dbGAP											0													137.0	141.0	140.0					5																	34043072		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AF329837	CCDS3904.1, CCDS34141.1	5p13	2009-05-20			ENSG00000082196	ENSG00000082196			14326	protein-coding gene	gene with protein product	"""cartonectin"""	612045				18421280	Standard	NM_030945		Approved	CTRP3, Cors, Corcs, 2310005P21Rik, Cors-26	uc003jio.3	Q9BXJ4	OTTHUMG00000090735	ENST00000231338.7:c.84+74G>A	5.37:g.34043072C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VAN4|Q542Y2|Q6MZN1|Q96KY1	Silent	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.R53	ENST00000231338.7	37	c.159	CCDS3904.1	5																																																																																			C1QTNF3	-	NULL	ENSG00000082196		0.507	C1QTNF3-001	KNOWN	basic|CCDS	protein_coding	C1QTNF3	HGNC	protein_coding	OTTHUMT00000207469.1	79	0.00	0	C	NM_030945		34043072	34043072	-1	no_errors	ENST00000382065	ensembl	human	known	69_37n	silent	39	41.79	28	SNP	0.999	T
C1QTNF3	114899	genome.wustl.edu	37	5	34043144	34043144	+	Intron	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:34043144C>T	ENST00000231338.7	-	1	172				RP11-1084J3.4_ENST00000382079.3_Intron|C1QTNF3_ENST00000382065.3_Silent_p.V29V	NM_030945.3	NP_112207.1	Q9BXJ4	C1QT3_HUMAN	C1q and tumor necrosis factor related protein 3						cellular triglyceride homeostasis (GO:0035356)|fat cell differentiation (GO:0045444)|negative regulation of gene expression (GO:0010629)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of monocyte chemotactic protein-1 production (GO:0071638)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of adiponectin secretion (GO:0070165)|positive regulation of cytokine secretion (GO:0050715)|protein trimerization (GO:0070206)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1)	17	all_lung(31;0.0207)					TTCTTCCGCTCACCTCCATGT	0.502																																						dbGAP											0													167.0	168.0	168.0					5																	34043144		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AF329837	CCDS3904.1, CCDS34141.1	5p13	2009-05-20			ENSG00000082196	ENSG00000082196			14326	protein-coding gene	gene with protein product	"""cartonectin"""	612045				18421280	Standard	NM_030945		Approved	CTRP3, Cors, Corcs, 2310005P21Rik, Cors-26	uc003jio.3	Q9BXJ4	OTTHUMG00000090735	ENST00000231338.7:c.84+2G>A	5.37:g.34043144C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VAN4|Q542Y2|Q6MZN1|Q96KY1	Silent	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.V29	ENST00000231338.7	37	c.87	CCDS3904.1	5																																																																																			C1QTNF3	-	NULL	ENSG00000082196		0.502	C1QTNF3-001	KNOWN	basic|CCDS	protein_coding	C1QTNF3	HGNC	protein_coding	OTTHUMT00000207469.1	123	0.00	0	C	NM_030945		34043144	34043144	-1	no_errors	ENST00000382065	ensembl	human	known	69_37n	silent	65	32.29	31	SNP	1.000	T
C1orf127	148345	genome.wustl.edu	37	1	11008388	11008388	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:11008388C>G	ENST00000377008.4	-	11	1749	c.1303G>C	c.(1303-1305)Gag>Cag	p.E435Q	C1orf127_ENST00000377004.4_Missense_Mutation_p.E602Q			Q8N9H9	CA127_HUMAN	chromosome 1 open reading frame 127	435								p.E435K(1)|p.E602K(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		ACCAGCTCCTCTGCAGCCAGT	0.672																																						dbGAP											2	Substitution - Missense(2)	lung(2)											40.0	47.0	45.0					1																	11008388		2202	4300	6502	-	-	-	SO:0001583	missense	0			AK094437	CCDS53267.1	1p36.22	2008-02-05			ENSG00000175262	ENSG00000175262			26730	protein-coding gene	gene with protein product						14702039	Standard	NM_001170754		Approved	FLJ37118	uc010oao.2	Q8N9H9	OTTHUMG00000002032	ENST00000377008.4:c.1303G>C	1.37:g.11008388C>G	ENSP00000366207:p.Glu435Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVG8|A6NKM7|Q5VXJ2	Missense_Mutation	SNP	superfamily_DNA-bd_dom_put	p.E602Q	ENST00000377008.4	37	c.1804		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.36|12.36	1.915857|1.915857	0.33815|0.33815	.|.	.|.	ENSG00000175262|ENSG00000175262	ENST00000377004;ENST00000377008|ENST00000418570;ENST00000520253	T;T|.	0.34072|.	1.38;1.38|.	4.68|4.68	2.51|2.51	0.30379|0.30379	.|.	0.197675|.	0.29152|.	N|.	0.012993|.	T|T	0.22820|0.22820	0.0551|0.0551	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B;B;B|.	0.32101|.	0.356;0.356;0.356|.	B;B;B|.	0.32289|.	0.143;0.143;0.143|.	T|T	0.22208|0.22208	-1.0223|-1.0223	10|5	0.31617|.	T|.	0.26|.	-12.2252|-12.2252	6.5759|6.5759	0.22567|0.22567	0.0:0.713:0.1765:0.1105|0.0:0.713:0.1765:0.1105	.|.	453;427;435|.	B7ZLG7;Q8N9H9-2;Q8N9H9|.	.;.;CA127_HUMAN|.	Q|H	602;435|436;553	ENSP00000366203:E602Q;ENSP00000366207:E435Q|.	ENSP00000366203:E602Q|.	E|Q	-|-	1|3	0|2	C1orf127|C1orf127	10930975|10930975	0.000000|0.000000	0.05858|0.05858	0.004000|0.004000	0.12327|0.12327	0.003000|0.003000	0.03518|0.03518	-0.017000|-0.017000	0.12590|0.12590	0.514000|0.514000	0.28300|0.28300	0.491000|0.491000	0.48974|0.48974	GAG|CAG	C1orf127	-	NULL	ENSG00000175262		0.672	C1orf127-202	KNOWN	basic	protein_coding	C1orf127	HGNC	protein_coding		19	0.00	0	C	NM_173507		11008388	11008388	-1	no_errors	ENST00000377004	ensembl	human	known	69_37n	missense	22	21.43	6	SNP	0.007	G
C1orf167	284498	genome.wustl.edu	37	1	11821911	11821911	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:11821911G>C	ENST00000433342.1	+	1	68	c.68G>C	c.(67-69)aGa>aCa	p.R23T	C1orf167_ENST00000435090.1_5'Flank			Q5SNV9	CA167_HUMAN	chromosome 1 open reading frame 167	23										central_nervous_system(1)	1						GCAGCCCCAAGAGGCATAGGT	0.647																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AL834308		1p36.22	2012-04-20			ENSG00000215910	ENSG00000215910			25262	protein-coding gene	gene with protein product						12370778	Standard	XM_006710065		Approved	DKFZp434E1410, RP11-56N19.2	uc001asy.1	Q5SNV9	OTTHUMG00000002228	ENST00000433342.1:c.68G>C	1.37:g.11821911G>C	ENSP00000414909:p.Arg23Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NDA9|Q8NDF3	Missense_Mutation	SNP	NULL	p.R23T	ENST00000433342.1	37	c.68		1	.	.	.	.	.	.	.	.	.	.	g	3.936	-0.015116	0.07681	.	.	ENSG00000215910	ENST00000433342	T	0.07688	3.17	1.98	1.03	0.20045	.	.	.	.	.	T	0.09555	0.0235	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.31447	-0.9943	6	0.87932	D	0	.	4.2733	0.10797	0.2212:0.0:0.7788:0.0	.	.	.	.	T	23	ENSP00000414909:R23T	ENSP00000414909:R23T	R	+	2	0	C1orf167	11744498	0.045000	0.20229	0.122000	0.21767	0.001000	0.01503	0.270000	0.18607	0.039000	0.15632	-0.359000	0.07587	AGA	C1orf167	-	NULL	ENSG00000215910		0.647	C1orf167-201	KNOWN	basic|appris_principal	protein_coding	C1orf167	HGNC	protein_coding		22	0.00	0	G			11821911	11821911	+1	no_errors	ENST00000433342	ensembl	human	known	69_37n	missense	16	36.00	9	SNP	0.127	C
C1orf177	163747	genome.wustl.edu	37	1	55277764	55277764	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:55277764G>T	ENST00000371273.3	+	6	679	c.664G>T	c.(664-666)Gag>Tag	p.E222*	C1orf177_ENST00000358193.3_Nonsense_Mutation_p.E222*	NM_001110533.1	NP_001104003	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	222										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						AAGCGACCTTGAGACATATGT	0.592																																						dbGAP											0													103.0	107.0	106.0					1																	55277764		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK097520	CCDS599.1, CCDS44153.1	1p32.3	2012-07-25			ENSG00000162398	ENSG00000162398			26854	protein-coding gene	gene with protein product							Standard	NM_152607		Approved	FLJ40201	uc001cyb.4	Q3ZCV2	OTTHUMG00000009986	ENST00000371273.3:c.664G>T	1.37:g.55277764G>T	ENSP00000360320:p.Glu222*	Somatic		WXS	Illumina GAIIx	Phase_IV	B7WPL2|Q8N7Y9	Nonsense_Mutation	SNP	NULL	p.E222*	ENST00000371273.3	37	c.664	CCDS44153.1	1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.354265	0.61293	.	.	ENSG00000162398	ENST00000358193;ENST00000371273	.	.	.	5.06	5.06	0.68205	.	0.183419	0.37483	N	0.002080	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-23.3677	13.9201	0.63926	0.0:0.0:1.0:0.0	.	.	.	.	X	222	.	ENSP00000350924:E222X	E	+	1	0	C1orf177	55050352	0.996000	0.38824	0.075000	0.20258	0.004000	0.04260	5.204000	0.65180	2.341000	0.79615	0.462000	0.41574	GAG	C1orf177	-	NULL	ENSG00000162398		0.592	C1orf177-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C1orf177	HGNC	protein_coding	OTTHUMT00000027674.1	57	0.00	0	G	NM_152607		55277764	55277764	+1	no_errors	ENST00000371273	ensembl	human	known	69_37n	nonsense	36	28.00	14	SNP	0.174	T
C1orf168	199920	genome.wustl.edu	37	1	57192252	57192252	+	Missense_Mutation	SNP	C	C	T	rs369200338		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:57192252C>T	ENST00000343433.6	-	16	1878	c.1798G>A	c.(1798-1800)Gaa>Aaa	p.E600K	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	600										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						AGTTTATCTTCATCTCTGAGG	0.348																																						dbGAP											0													96.0	96.0	96.0					1																	57192252		2203	4299	6502	-	-	-	SO:0001583	missense	0			BX648439	CCDS30729.1	1p32.2	2011-02-22			ENSG00000187889	ENSG00000187889			27295	protein-coding gene	gene with protein product						14702039	Standard	NM_001004303		Approved	RP4-758N20.2, FLJ43208	uc001cym.4	Q5VWT5	OTTHUMG00000008281	ENST00000343433.6:c.1798G>A	1.37:g.57192252C>T	ENSP00000345972:p.Glu600Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q63HM3|Q6ZUY6	Missense_Mutation	SNP	superfamily_SH3_domain	p.E600K	ENST00000343433.6	37	c.1798	CCDS30729.1	1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.441803	0.43326	.	.	ENSG00000187889	ENST00000343433	T	0.36157	1.27	4.21	2.33	0.28932	.	0.240700	0.29300	N	0.012545	T	0.22475	0.0542	L	0.34521	1.04	0.32502	N	0.538745	P	0.36144	0.539	B	0.33121	0.158	T	0.28170	-1.0052	10	0.54805	T	0.06	-5.3587	5.9335	0.19152	0.0:0.7652:0.0:0.2348	.	600	Q5VWT5	CA168_HUMAN	K	600	ENSP00000345972:E600K	ENSP00000345972:E600K	E	-	1	0	C1orf168	56964840	0.974000	0.33945	0.418000	0.26571	0.264000	0.26372	1.220000	0.32491	1.118000	0.41863	-0.136000	0.14681	GAA	C1orf168	-	NULL	ENSG00000187889		0.348	C1orf168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf168	HGNC	protein_coding	OTTHUMT00000022751.2	146	0.68	1	C	NM_001004303		57192252	57192252	-1	no_errors	ENST00000343433	ensembl	human	known	69_37n	missense	73	18.89	17	SNP	0.799	T
C1orf87	127795	genome.wustl.edu	37	1	60506693	60506693	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:60506693C>G	ENST00000371201.3	-	4	560	c.453G>C	c.(451-453)caG>caC	p.Q151H	C1orf87_ENST00000450089.2_Intron	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	151			Q -> E (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.				calcium ion binding (GO:0005509)			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						CTCTCACCATCTGTTCCAAGG	0.463																																					NSCLC(75;811 1386 4923 13371 51772)	dbGAP											0													148.0	133.0	138.0					1																	60506693		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK124828	CCDS614.1	1p32.1	2014-04-03			ENSG00000162598	ENSG00000162598			28547	protein-coding gene	gene with protein product	"""carcinoma-related EF-hand protein"""					12477932	Standard	NM_152377		Approved	MGC34837, CREF	uc001czs.2	Q8N0U7	OTTHUMG00000008992	ENST00000371201.3:c.453G>C	1.37:g.60506693C>G	ENSP00000360244:p.Gln151His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZU07|Q8IVS0	Missense_Mutation	SNP	NULL	p.Q151H	ENST00000371201.3	37	c.453	CCDS614.1	1	.	.	.	.	.	.	.	.	.	.	C	5.334	0.246876	0.10130	.	.	ENSG00000162598	ENST00000371201	T	0.18174	2.23	5.02	1.85	0.25348	.	0.827837	0.10655	N	0.649426	T	0.10551	0.0258	L	0.31664	0.95	0.28714	N	0.903389	B	0.09022	0.002	B	0.09377	0.004	T	0.30179	-0.9987	10	0.29301	T	0.29	0.6689	3.2741	0.06892	0.1656:0.4051:0.3347:0.0946	.	151	Q8N0U7	CA087_HUMAN	H	151	ENSP00000360244:Q151H	ENSP00000360244:Q151H	Q	-	3	2	C1orf87	60279281	0.631000	0.27164	0.791000	0.31998	0.672000	0.39443	0.265000	0.18515	0.655000	0.30866	0.305000	0.20034	CAG	C1orf87	-	NULL	ENSG00000162598		0.463	C1orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf87	HGNC	protein_coding	OTTHUMT00000024943.1	69	0.00	0	C	NM_152377		60506693	60506693	-1	no_errors	ENST00000371201	ensembl	human	known	69_37n	missense	76	21.65	21	SNP	0.504	G
ERICH3	127254	genome.wustl.edu	37	1	75036953	75036953	+	Missense_Mutation	SNP	C	C	T	rs529852526	byFrequency	TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:75036953C>T	ENST00000326665.5	-	14	4659	c.4441G>A	c.(4441-4443)Gag>Aag	p.E1481K	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1481	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTCTCTCCCTCCCGTGATAAT	0.547													c|||	2	0.000399361	0.0	0.0	5008	,	,		18417	0.0		0.0	False		,,,				2504	0.002					dbGAP											0													153.0	137.0	142.0					1																	75036953		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000326665.5:c.4441G>A	1.37:g.75036953C>T	ENSP00000322609:p.Glu1481Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	NULL	p.E1481K	ENST00000326665.5	37	c.4441	CCDS30755.1	1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.253893	0.39896	.	.	ENSG00000178965	ENST00000326665	T	0.15017	2.46	4.07	-2.36	0.06663	.	.	.	.	.	T	0.02455	0.0075	N	0.19112	0.55	0.09310	N	1	B	0.29432	0.244	B	0.24974	0.057	T	0.44802	-0.9304	9	0.13108	T	0.6	1.0824	9.6916	0.40131	0.0:0.3674:0.5421:0.0904	.	1481	Q5RHP9	CA173_HUMAN	K	1481	ENSP00000322609:E1481K	ENSP00000322609:E1481K	E	-	1	0	C1orf173	74809541	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.079000	0.14782	-0.127000	0.11661	0.561000	0.74099	GAG	C1orf173	-	NULL	ENSG00000178965		0.547	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf173	HGNC	protein_coding	OTTHUMT00000026516.1	68	0.00	0	C			75036953	75036953	-1	no_errors	ENST00000326665	ensembl	human	known	69_37n	missense	64	20.99	17	SNP	0.000	T
ERICH3	127254	genome.wustl.edu	37	1	75055630	75055630	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:75055630G>A	ENST00000326665.5	-	12	2079	c.1861C>T	c.(1861-1863)Cag>Tag	p.Q621*	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Nonsense_Mutation_p.Q424*	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		621	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTCAGTTCCTGAGAAGATGAC	0.433																																						dbGAP											0													105.0	103.0	104.0					1																	75055630		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0																														ENST00000326665.5:c.1861C>T	1.37:g.75055630G>A	ENSP00000322609:p.Gln621*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Nonsense_Mutation	SNP	NULL	p.Q621*	ENST00000326665.5	37	c.1861	CCDS30755.1	1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.867716	0.91587	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	.	.	.	5.27	2.01	0.26516	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-0.0606	7.8293	0.29334	0.0:0.1525:0.5758:0.2717	.	.	.	.	X	621;424	.	ENSP00000322609:Q621X	Q	-	1	0	C1orf173	74828218	0.005000	0.15991	0.109000	0.21407	0.034000	0.12701	0.458000	0.21892	1.199000	0.43173	-0.189000	0.12847	CAG	C1orf173	-	NULL	ENSG00000178965		0.433	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf173	HGNC	protein_coding	OTTHUMT00000026516.1	119	0.00	0	G			75055630	75055630	-1	no_errors	ENST00000326665	ensembl	human	known	69_37n	nonsense	83	17.82	18	SNP	0.001	A
C1orf52	148423	genome.wustl.edu	37	1	85718298	85718298	+	3'UTR	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:85718298C>G	ENST00000471115.1	-	0	571				C1orf52_ENST00000294661.4_5'UTR	NM_198077.3	NP_932343.1	Q8N6N3	CA052_HUMAN	chromosome 1 open reading frame 52								poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)	10				all cancers(265;0.0105)|Epithelial(280;0.0293)		TACAGAAATTCTGGTCATTTG	0.333																																						dbGAP											0													149.0	132.0	138.0					1																	85718298		2202	4297	6499	-	-	-	SO:0001624	3_prime_UTR_variant	0			BC029538	CCDS703.1	1p22.3	2008-02-05			ENSG00000162642	ENSG00000162642			24871	protein-coding gene	gene with protein product						11891061	Standard	NM_198077		Approved	gm117, FLJ44982	uc001dkv.3	Q8N6N3	OTTHUMG00000009966	ENST00000471115.1:c.*14G>C	1.37:g.85718298C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KX89|Q8TDK5|Q8TDK6	RNA	SNP	-	NULL	ENST00000471115.1	37	NULL	CCDS703.1	1																																																																																			C1orf52	-	-	ENSG00000162642		0.333	C1orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf52	HGNC	protein_coding	OTTHUMT00000027616.2	215	0.00	0	C	NM_198077		85718298	85718298	-1	no_errors	ENST00000294661	ensembl	human	known	69_37n	rna	162	22.12	46	SNP	0.000	G
C1orf61	10485	genome.wustl.edu	37	1	156390084	156390084	+	Intron	SNP	C	C	T	rs550292800		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:156390084C>T	ENST00000368243.1	-	3	92				MIR9-1_ENST00000385198.2_RNA	NM_006365.1	NP_006356.1	Q13536	CROC4_HUMAN	chromosome 1 open reading frame 61							nucleus (GO:0005634)				large_intestine(2)|lung(2)|skin(1)	5	Hepatocellular(266;0.158)					TCAAGCCTCTCCCTCCCGCCC	0.587																																						dbGAP											0													16.0	17.0	17.0					1																	156390084		1564	3566	5130	-	-	-	SO:0001627	intron_variant	0				CCDS1142.1	1q22	2014-03-17			ENSG00000125462	ENSG00000125462			30780	protein-coding gene	gene with protein product	"""contingent replication of cDNA-4"", ""transcriptional activator of the c fos promoter"""					10995546, 23012322	Standard	XM_005244832		Approved	CROC4	uc001fou.1	Q13536	OTTHUMG00000031022	ENST00000368243.1:c.25-3428G>A	1.37:g.156390084C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B1ALL5|B1ALL8	Silent	SNP	NULL	p.G15	ENST00000368243.1	37	c.45	CCDS1142.1	1																																																																																			C1orf61	-	NULL	ENSG00000125462		0.587	C1orf61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf61	HGNC	protein_coding	OTTHUMT00000075988.1	47	0.00	0	C	NM_006365		156390084	156390084	-1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000368242	ensembl	human	known	69_37n	silent	33	23.26	10	SNP	0.001	T
C1orf106	55765	genome.wustl.edu	37	1	200877971	200877971	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:200877971G>A	ENST00000367342.4	+	7	1143	c.943G>A	c.(943-945)Gaa>Aaa	p.E315K	C1orf106_ENST00000413687.2_Missense_Mutation_p.E230K	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	315	Pro-rich.									endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						TGGGAGCCCAGAACGGGCTCC	0.627																																						dbGAP											0													44.0	52.0	49.0					1																	200877971		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001763	CCDS44292.1	1q32.1	2011-02-15			ENSG00000163362	ENSG00000163362			25599	protein-coding gene	gene with protein product						14702039	Standard	NM_018265		Approved	FLJ10901	uc001gvo.4	Q3KP66	OTTHUMG00000035789	ENST00000367342.4:c.943G>A	1.37:g.200877971G>A	ENSP00000356311:p.Glu315Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E1K9|E9PFY0|Q9NV65|Q9NVI0	Missense_Mutation	SNP	pfam_DUF3338	p.E315K	ENST00000367342.4	37	c.943		1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.408849	0.62399	.	.	ENSG00000163362	ENST00000367342;ENST00000413687	T;T	0.55588	0.51;0.58	5.02	5.02	0.67125	.	0.069595	0.56097	D	0.000036	T	0.65281	0.2676	L	0.48362	1.52	0.43296	D	0.995282	D	0.63880	0.993	D	0.72625	0.978	T	0.64145	-0.6476	10	0.41790	T	0.15	-13.1807	15.2446	0.73497	0.0:0.0:1.0:0.0	.	315	Q3KP66	CA106_HUMAN	K	315;230	ENSP00000356311:E315K;ENSP00000392105:E230K	ENSP00000356311:E315K	E	+	1	0	C1orf106	199144594	1.000000	0.71417	0.999000	0.59377	0.112000	0.19704	7.419000	0.80179	2.313000	0.78055	0.557000	0.71058	GAA	C1orf106	-	NULL	ENSG00000163362		0.627	C1orf106-001	KNOWN	basic	protein_coding	C1orf106	HGNC	protein_coding	OTTHUMT00000087057.2	16	0.00	0	G	NM_018265		200877971	200877971	+1	no_errors	ENST00000367342	ensembl	human	known	69_37n	missense	20	37.50	12	SNP	0.986	A
C1orf116	79098	genome.wustl.edu	37	1	207195828	207195828	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:207195828C>T	ENST00000359470.5	-	4	1530	c.1281G>A	c.(1279-1281)atG>atA	p.M427I	C1orf116_ENST00000461135.2_Missense_Mutation_p.M181I	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	427						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)					CTGGAGACTTCATTGGCAAAG	0.582																																						dbGAP											0													40.0	41.0	40.0					1																	207195828		2202	4299	6501	-	-	-	SO:0001583	missense	0				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.1281G>A	1.37:g.207195828C>T	ENSP00000352447:p.Met427Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JV41|Q658X3	Missense_Mutation	SNP	NULL	p.M427I	ENST00000359470.5	37	c.1281	CCDS1475.1	1	.	.	.	.	.	.	.	.	.	.	C	7.758	0.704706	0.15172	.	.	ENSG00000182795	ENST00000359470;ENST00000461135	T;T	0.16196	3.2;2.36	5.56	-1.49	0.08718	.	2.832820	0.01314	N	0.010706	T	0.08758	0.0217	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.25710	-1.0124	10	0.20519	T	0.43	4.1788	6.1325	0.20213	0.1181:0.5311:0.2493:0.1014	.	427	Q9BW04	SARG_HUMAN	I	427;181	ENSP00000352447:M427I;ENSP00000436862:M181I	ENSP00000352447:M427I	M	-	3	0	C1orf116	205262451	0.000000	0.05858	0.109000	0.21407	0.030000	0.12068	-1.353000	0.02617	0.001000	0.14605	-0.165000	0.13383	ATG	C1orf116	-	NULL	ENSG00000182795		0.582	C1orf116-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf116	HGNC	protein_coding	OTTHUMT00000088973.1	64	0.00	0	C	NM_024115		207195828	207195828	-1	no_errors	ENST00000359470	ensembl	human	known	69_37n	missense	65	23.53	20	SNP	0.001	T
COA6	388753	genome.wustl.edu	37	1	234510040	234510040	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:234510040G>A	ENST00000366613.1	+	2	223	c.187G>A	c.(187-189)Gat>Aat	p.D63N	COA6_ENST00000366612.1_Missense_Mutation_p.D17N|RP5-827C21.4_ENST00000451795.1_RNA|COA6_ENST00000366615.4_Missense_Mutation_p.D93N|RP5-827C21.6_ENST00000610233.1_RNA	NM_001012985.2	NP_001013003.1	Q5JTJ3	COA6_HUMAN	cytochrome c oxidase assembly factor 6 homolog (S. cerevisiae)	63						mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)|poly(A) RNA binding (GO:0044822)										GGGGGCCCGGGATGAGTACTG	0.448																																						dbGAP											0													73.0	80.0	77.0					1																	234510040		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS31059.1, CCDS55690.1	1q42.2	2012-10-15	2012-10-15	2012-10-15	ENSG00000168275	ENSG00000168275		"""Mitochondrial respiratory chain complex assembly factors"""	18025	protein-coding gene	gene with protein product		614772	"""chromosome 1 open reading frame 31"""	C1orf31		22984289	Standard	NM_001012985		Approved		uc001hwc.3	Q5JTJ3	OTTHUMG00000037945	ENST00000366613.1:c.187G>A	1.37:g.234510040G>A	ENSP00000355572:p.Asp63Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JTJ2|Q5JTJ4|Q8TA88	Missense_Mutation	SNP	pfam_Cyt_c_oxidase_su6B,superfamily_Cyt_c_oxidase_su6B	p.D93N	ENST00000366613.1	37	c.277	CCDS31059.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.167080	0.94768	.	.	ENSG00000168275	ENST00000366615;ENST00000424237;ENST00000366613;ENST00000366612	D;D;D	0.85556	-2.0;-2.0;-2.0	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	D	0.93298	0.7864	M	0.86573	2.825	0.53688	D	0.999979	D	0.89917	1.0	D	0.91635	0.999	D	0.94110	0.7370	10	0.72032	D	0.01	.	17.4133	0.87493	0.0:0.0:1.0:0.0	.	63	Q5JTJ3	CA031_HUMAN	N	93;94;63;17	ENSP00000355574:D93N;ENSP00000355572:D63N;ENSP00000355571:D17N	ENSP00000355571:D17N	D	+	1	0	C1orf31	232576663	1.000000	0.71417	0.976000	0.42696	0.975000	0.68041	6.533000	0.73829	2.642000	0.89623	0.655000	0.94253	GAT	C1orf31	-	pfam_Cyt_c_oxidase_su6B,superfamily_Cyt_c_oxidase_su6B	ENSG00000168275		0.448	COA6-002	NOVEL	basic|CCDS	protein_coding	C1orf31	HGNC	protein_coding	OTTHUMT00000092613.1	67	0.00	0	G	NM_001012985		234510040	234510040	+1	no_errors	ENST00000366615	ensembl	human	known	69_37n	missense	66	18.52	15	SNP	0.998	A
C1orf101	257044	genome.wustl.edu	37	1	244724219	244724219	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:244724219G>C	ENST00000366534.4	+	10	1333	c.1279G>C	c.(1279-1281)Gat>Cat	p.D427H	C1orf101_ENST00000366531.3_Missense_Mutation_p.D276H|C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366533.4_Missense_Mutation_p.D427H	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	427						CatSper complex (GO:0036128)				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			ATATAATGAAGATACAAAACA	0.378																																						dbGAP											0													112.0	116.0	115.0					1																	244724219		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC032859	CCDS1625.1, CCDS44340.1, CCDS55693.1	1q44	2012-12-20			ENSG00000179397	ENSG00000179397			28491	protein-coding gene	gene with protein product						12477932	Standard	NM_173807		Approved	MGC33370	uc001iam.3	Q5SY80	OTTHUMG00000040103	ENST00000366534.4:c.1279G>C	1.37:g.244724219G>C	ENSP00000355492:p.Asp427His	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Missense_Mutation	SNP	NULL	p.D427H	ENST00000366534.4	37	c.1279	CCDS44340.1	1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.479596	0.63849	.	.	ENSG00000179397	ENST00000391841;ENST00000366534;ENST00000366533;ENST00000428042;ENST00000366531	T;T;T;T	0.25085	1.82;1.82;1.82;1.82	4.8	2.86	0.33363	.	0.102964	0.42821	D	0.000643	T	0.40040	0.1101	L	0.59436	1.845	0.25900	N	0.983366	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.73380	0.964;0.98;0.98	T	0.14062	-1.0486	10	0.62326	D	0.03	.	5.7277	0.18022	0.1013:0.0:0.705:0.1937	.	347;427;427	B1AQM6;Q5SY80;Q5SY80-2	.;CA101_HUMAN;.	H	427;427;427;347;276	ENSP00000355492:D427H;ENSP00000355491:D427H;ENSP00000395796:D347H;ENSP00000355489:D276H	ENSP00000355489:D276H	D	+	1	0	C1orf101	242790842	1.000000	0.71417	0.699000	0.30290	0.533000	0.34776	2.327000	0.43858	0.508000	0.28173	0.655000	0.94253	GAT	C1orf101	-	NULL	ENSG00000179397		0.378	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	C1orf101	HGNC	protein_coding	OTTHUMT00000096701.1	98	0.00	0	G	NM_173807		244724219	244724219	+1	no_errors	ENST00000366534	ensembl	human	known	69_37n	missense	115	18.44	26	SNP	0.957	C
C2	717	genome.wustl.edu	37	6	31896598	31896598	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:31896598G>A	ENST00000299367.5	+	3	622	c.346G>A	c.(346-348)Gag>Aag	p.E116K	C2_ENST00000469372.1_Intron|CFB_ENST00000556679.1_Intron|C2_ENST00000442278.2_Intron|C2_ENST00000418949.2_Missense_Mutation_p.E116K|C2_ENST00000452323.2_Intron|CFB_ENST00000456570.1_Intron|CFB_ENST00000477310.1_Missense_Mutation_p.E116K	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2	116	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		TGTGAGCTTCGAGTGTGAGGA	0.577																																						dbGAP											0													116.0	98.0	104.0					6																	31896598		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4728.1, CCDS54991.1, CCDS56416.1, CCDS75427.1, CCDS75428.1	6p21.3	2014-09-17			ENSG00000166278	ENSG00000166278		"""Complement system"""	1248	protein-coding gene	gene with protein product		613927					Standard	NM_001145903		Approved		uc011hbs.1	P06681	OTTHUMG00000031190	ENST00000299367.5:c.346G>A	6.37:g.31896598G>A	ENSP00000299367:p.Glu116Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Missense_Mutation	SNP	pfam_VWF_A,pfam_Peptidase_S1_S6,pfam_Sushi_SCR_CCP,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_VWF_A,smart_Peptidase_S1_S6,pirsf_Compl_C2_B,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.E116K	ENST00000299367.5	37	c.346	CCDS4728.1	6	.	.	.	.	.	.	.	.	.	.	G	15.66	2.900684	0.52227	.	.	ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000244255	ENST00000413154;ENST00000299367;ENST00000418949;ENST00000477310	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	5.49	0.237	0.15475	Complement control module (2);Sushi/SCR/CCP (3);	1.726460	0.03748	N	0.256031	T	0.36413	0.0966	.	.	.	0.80722	D	1	P;B;P	0.46064	0.85;0.234;0.872	B;B;B	0.38985	0.167;0.148;0.287	T	0.42999	-0.9418	9	0.39692	T	0.17	-2.5913	10.8794	0.46929	0.0742:0.5177:0.4081:0.0	.	87;116;116	B4DV48;P06681;Q8N6L6	.;CO2_HUMAN;.	K	116	ENSP00000403325:E116K;ENSP00000299367:E116K;ENSP00000406190:E116K;ENSP00000418996:E116K	ENSP00000299367:E116K	E	+	1	0	C2;XXbac-BPG116M5.17	32004577	0.870000	0.30015	0.397000	0.26308	0.734000	0.41952	0.645000	0.24782	-0.266000	0.09339	0.491000	0.48974	GAG	C2	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pirsf_Compl_C2_B,pfscan_Sushi_SCR_CCP	ENSG00000166278		0.577	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2	HGNC	protein_coding	OTTHUMT00000076379.9	84	0.00	0	G			31896598	31896598	+1	no_errors	ENST00000299367	ensembl	human	known	69_37n	missense	76	28.97	31	SNP	0.840	A
CCM2L	140706	genome.wustl.edu	37	20	30598284	30598284	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:30598284G>A	ENST00000300415.8	+	1	40	c.27G>A	c.(25-27)aaG>aaA	p.K9K	CCM2L_ENST00000262659.8_Silent_p.K9K|RNA5SP481_ENST00000516814.1_RNA			Q9NUG4	CCM2L_HUMAN	cerebral cavernous malformation 2-like	9																	AGAAAGGGAAGAAGGTAGGTG	0.592																																						dbGAP											0													106.0	88.0	95.0					20																	30598284		1755	3258	5013	-	-	-	SO:0001819	synonymous_variant	0			AL031658	CCDS13195.1	20q11.21	2012-10-30	2012-10-30	2012-10-30	ENSG00000101331	ENSG00000101331			16153	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 160"""	C20orf160			Standard	NM_080625		Approved	dJ310O13.5	uc002wxf.2	Q9NUG4	OTTHUMG00000032197	ENST00000300415.8:c.27G>A	20.37:g.30598284G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JYR9|Q8N5F1|Q8N6G8|Q96MD5	Silent	SNP	NULL	p.K9	ENST00000300415.8	37	c.27		20																																																																																			C20orf160	-	NULL	ENSG00000101331		0.592	CCM2L-201	KNOWN	basic|appris_candidate_longest	protein_coding	C20orf160	HGNC	protein_coding		86	0.00	0	G	NM_080625		30598284	30598284	+1	no_errors	ENST00000300415	ensembl	human	known	69_37n	silent	107	11.57	14	SNP	1.000	A
MROH8	140699	genome.wustl.edu	37	20	35743692	35743692	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:35743692C>T	ENST00000400441.3	-	19	2418	c.2419G>A	c.(2419-2421)Gaa>Aaa	p.E807K	MROH8_ENST00000441008.2_Missense_Mutation_p.E793K|MROH8_ENST00000217333.8_Missense_Mutation_p.E636K			Q9H579	MROH8_HUMAN	maestro heat-like repeat family member 8	0																	TCATCGGTTTCACGCAAGCTG	0.483																																						dbGAP											0													275.0	263.0	267.0					20																	35743692		2038	4197	6235	-	-	-	SO:0001583	missense	0			AL136172		20q11.22	2012-12-19	2012-12-19	2012-12-19	ENSG00000101353	ENSG00000101353		"""maestro heat-like repeat containing"""	16125	protein-coding gene	gene with protein product	"""hypothetical protein LOC140699"""		"""chromosome 20 open reading frame 131"", ""chromosome 20 open reading frame 132"""	C20orf131, C20orf132		11780052, 15635413	Standard	NM_152503		Approved	dJ621N11.4, dJ621N11.3	uc010zvu.2	Q9H579	OTTHUMG00000032407	ENST00000400441.3:c.2419G>A	20.37:g.35743692C>T	ENSP00000383291:p.Glu807Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JYQ6	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E807K	ENST00000400441.3	37	c.2419		20	.	.	.	.	.	.	.	.	.	.	C	9.952	1.220527	0.22457	.	.	ENSG00000101353	ENST00000441008;ENST00000400441;ENST00000217333	T;T;T	0.66099	-0.19;1.41;-0.17	5.27	4.31	0.51392	.	0.254509	0.34460	N	0.003959	T	0.47948	0.1473	N	0.19112	0.55	0.09310	N	0.999999	P;P	0.42296	0.775;0.518	B;B	0.43658	0.426;0.225	T	0.42649	-0.9439	10	0.44086	T	0.13	5.1444	9.1362	0.36875	0.0:0.9019:0.0:0.0981	.	807;641	E7ETR9;Q9H579-2	.;.	K	793;807;636	ENSP00000392144:E793K;ENSP00000383291:E807K;ENSP00000217333:E636K	ENSP00000217333:E636K	E	-	1	0	C20orf132	35177106	0.320000	0.24616	0.107000	0.21349	0.046000	0.14306	2.253000	0.43205	2.615000	0.88500	0.655000	0.94253	GAA	C20orf132	-	superfamily_ARM-type_fold	ENSG00000101353		0.483	MROH8-202	KNOWN	basic|appris_principal	protein_coding	C20orf132	HGNC	protein_coding		98	0.00	0	C	NM_152503		35743692	35743692	-1	no_errors	ENST00000400441	ensembl	human	known	69_37n	missense	149	13.87	24	SNP	0.108	T
C2orf16	84226	genome.wustl.edu	37	2	27800157	27800157	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:27800157C>A	ENST00000408964.2	+	1	769	c.718C>A	c.(718-720)Cag>Aag	p.Q240K		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	240						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					ATTGCTCTCTCAGTCACGGCC	0.433																																						dbGAP											0													79.0	75.0	76.0					2																	27800157		1884	4101	5985	-	-	-	SO:0001583	missense	0			AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.718C>A	2.37:g.27800157C>A	ENSP00000386190:p.Gln240Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	NULL	p.Q240K	ENST00000408964.2	37	c.718	CCDS42666.1	2	.	.	.	.	.	.	.	.	.	.	C	7.198	0.592986	0.13875	.	.	ENSG00000221843	ENST00000408964	T	0.07444	3.19	4.35	0.104	0.14531	.	.	.	.	.	T	0.03871	0.0109	N	0.19112	0.55	0.09310	N	1	B	0.17038	0.02	B	0.14578	0.011	T	0.45948	-0.9226	9	0.05833	T	0.94	.	4.5885	0.12295	0.0:0.4372:0.3487:0.214	.	240	Q68DN1	CB016_HUMAN	K	240	ENSP00000386190:Q240K	ENSP00000386190:Q240K	Q	+	1	0	C2orf16	27653661	0.003000	0.15002	0.008000	0.14137	0.003000	0.03518	0.120000	0.15647	0.100000	0.17581	0.563000	0.77884	CAG	C2orf16	-	NULL	ENSG00000221843		0.433	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf16	HGNC	protein_coding	OTTHUMT00000353292.1	35	0.00	0	C	NM_032266		27800157	27800157	+1	no_errors	ENST00000408964	ensembl	human	known	69_37n	missense	30	16.67	6	SNP	0.001	A
C2orf16	84226	genome.wustl.edu	37	2	27805229	27805229	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:27805229G>C	ENST00000408964.2	+	1	5841	c.5790G>C	c.(5788-5790)gaG>gaC	p.E1930D	ZNF512_ENST00000379717.1_5'Flank|AC074091.1_ENST00000408604.1_RNA|ZNF512_ENST00000416005.2_5'Flank|ZNF512_ENST00000413371.2_5'Flank|ZNF512_ENST00000556601.1_5'Flank|ZNF512_ENST00000355467.4_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1930	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GTCCCTCTGAGAGGAGCCGAC	0.552																																						dbGAP											0													72.0	73.0	73.0					2																	27805229		1883	4100	5983	-	-	-	SO:0001583	missense	0			AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.5790G>C	2.37:g.27805229G>C	ENSP00000386190:p.Glu1930Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	NULL	p.E1930D	ENST00000408964.2	37	c.5790	CCDS42666.1	2	.	.	.	.	.	.	.	.	.	.	G	11.87	1.768490	0.31320	.	.	ENSG00000221843	ENST00000408964	T	0.06768	3.26	2.72	0.092	0.14470	.	.	.	.	.	T	0.04182	0.0116	N	0.19112	0.55	0.09310	N	1	B	0.27166	0.17	B	0.28784	0.094	T	0.46176	-0.9210	9	0.08381	T	0.77	.	4.397	0.11367	0.1466:0.4049:0.4486:0.0	.	1930	Q68DN1	CB016_HUMAN	D	1930	ENSP00000386190:E1930D	ENSP00000386190:E1930D	E	+	3	2	C2orf16	27658733	0.000000	0.05858	0.009000	0.14445	0.352000	0.29268	-0.443000	0.06862	-0.011000	0.14247	0.197000	0.17608	GAG	C2orf16	-	NULL	ENSG00000221843		0.552	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf16	HGNC	protein_coding	OTTHUMT00000353292.1	36	0.00	0	G	NM_032266		27805229	27805229	+1	no_errors	ENST00000408964	ensembl	human	known	69_37n	missense	18	30.77	8	SNP	0.100	C
C2orf48	348738	genome.wustl.edu	37	2	10350459	10350459	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:10350459C>A	ENST00000381786.3	+	4	505	c.216C>A	c.(214-216)ttC>ttA	p.F72L		NM_182626.2	NP_872432.1	Q96LS8	CB048_HUMAN	chromosome 2 open reading frame 48	72										endometrium(1)|lung(7)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)		TCAACCAGTTCTCTCACTGCA	0.512																																						dbGAP											0													69.0	71.0	70.0					2																	10350459		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK057831	CCDS1670.1	2p25.1	2006-09-01			ENSG00000163009	ENSG00000163009			26322	protein-coding gene	gene with protein product						12477932	Standard	NM_182626		Approved	FLJ25102	uc021vds.1	Q96LS8	OTTHUMG00000119017	ENST00000381786.3:c.216C>A	2.37:g.10350459C>A	ENSP00000371205:p.Phe72Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.F72L	ENST00000381786.3	37	c.216	CCDS1670.1	2	.	.	.	.	.	.	.	.	.	.	C	5.306	0.241840	0.10077	.	.	ENSG00000163009	ENST00000381786	T	0.36520	1.25	1.51	-0.609	0.11608	.	.	.	.	.	T	0.14399	0.0348	N	0.08118	0	0.09310	N	1	P	0.35481	0.504	B	0.30179	0.112	T	0.14699	-1.0463	9	0.87932	D	0	.	2.8221	0.05474	0.0:0.4917:0.2997:0.2086	.	72	Q96LS8	CB048_HUMAN	L	72	ENSP00000371205:F72L	ENSP00000371205:F72L	F	+	3	2	C2orf48	10267910	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.328000	0.02680	-0.204000	0.10235	0.549000	0.68633	TTC	C2orf48	-	NULL	ENSG00000163009		0.512	C2orf48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf48	HGNC	protein_coding	OTTHUMT00000239217.1	61	0.00	0	C	NM_182626		10350459	10350459	+1	no_errors	ENST00000381786	ensembl	human	known	69_37n	missense	65	15.58	12	SNP	0.000	A
C2orf42	54980	genome.wustl.edu	37	2	70406733	70406733	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:70406733C>G	ENST00000264434.2	-	4	1244	c.865G>C	c.(865-867)Gaa>Caa	p.E289Q	C2orf42_ENST00000420306.1_Missense_Mutation_p.E289Q|C2orf42_ENST00000470096.1_5'Flank	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN	chromosome 2 open reading frame 42	289										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						ACTGTTGATTCTGAATGGCAA	0.373																																						dbGAP											0													125.0	123.0	124.0					2																	70406733		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000565	CCDS1899.1	2p14	2011-03-08			ENSG00000115998	ENSG00000115998			26056	protein-coding gene	gene with protein product						12477932	Standard	XM_005264389		Approved	FLJ20558	uc002sgh.3	Q9NWW7	OTTHUMG00000129642	ENST00000264434.2:c.865G>C	2.37:g.70406733C>G	ENSP00000264434:p.Glu289Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	D6W5G3|Q9H629	Missense_Mutation	SNP	NULL	p.E289Q	ENST00000264434.2	37	c.865	CCDS1899.1	2	.	.	.	.	.	.	.	.	.	.	C	22.0	4.224368	0.79576	.	.	ENSG00000115998	ENST00000264434;ENST00000420306	T;T	0.48201	0.82;0.82	4.98	4.98	0.66077	.	0.113958	0.64402	D	0.000007	T	0.61311	0.2337	L	0.50333	1.59	0.39282	D	0.964587	D	0.61080	0.989	D	0.70487	0.969	T	0.56426	-0.7981	10	0.22109	T	0.4	-21.3952	17.0377	0.86480	0.0:1.0:0.0:0.0	.	289	Q9NWW7	CB042_HUMAN	Q	289	ENSP00000264434:E289Q;ENSP00000404515:E289Q	ENSP00000264434:E289Q	E	-	1	0	C2orf42	70260237	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.540000	0.60664	2.593000	0.87608	0.650000	0.86243	GAA	C2orf42	-	NULL	ENSG00000115998		0.373	C2orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf42	HGNC	protein_coding	OTTHUMT00000251840.1	104	0.00	0	C	NM_017880		70406733	70406733	-1	no_errors	ENST00000264434	ensembl	human	known	69_37n	missense	96	20.49	25	SNP	1.000	G
CNOT11	55571	genome.wustl.edu	37	2	101881387	101881387	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:101881387G>A	ENST00000289382.3	+	4	1076	c.913G>A	c.(913-915)Gag>Aag	p.E305K		NM_017546.4	NP_060016.3	Q9UKZ1	CNO11_HUMAN	CCR4-NOT transcription complex, subunit 11	305					cell proliferation (GO:0008283)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|nucleus (GO:0005634)											AAACCCCACGGAGCCTGACCA	0.488																																						dbGAP											0													153.0	136.0	142.0					2																	101881387		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF103798	CCDS2050.1	2q12.1	2013-01-24	2013-01-24	2013-01-24	ENSG00000158435	ENSG00000158435			25217	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 29"""	C2orf29		10497265, 23232451, 23303381	Standard	NM_017546		Approved	C40	uc002taw.4	Q9UKZ1	OTTHUMG00000130686	ENST00000289382.3:c.913G>A	2.37:g.101881387G>A	ENSP00000289382:p.Glu305Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P2M9|Q8N681	Missense_Mutation	SNP	pfam_DUF2363	p.E305K	ENST00000289382.3	37	c.913	CCDS2050.1	2	.	.	.	.	.	.	.	.	.	.	G	27.5	4.834485	0.91036	.	.	ENSG00000158435	ENST00000289382	.	.	.	5.97	5.97	0.96955	.	0.095212	0.64402	D	0.000001	T	0.57110	0.2031	L	0.54323	1.7	0.80722	D	1	P	0.40875	0.731	B	0.39590	0.304	T	0.52298	-0.8594	9	0.25751	T	0.34	-29.6963	20.428	0.99075	0.0:0.0:1.0:0.0	.	305	Q9UKZ1	CB029_HUMAN	K	305	.	ENSP00000289382:E305K	E	+	1	0	C2orf29	101247819	1.000000	0.71417	0.967000	0.41034	0.314000	0.28054	9.731000	0.98807	2.837000	0.97791	0.655000	0.94253	GAG	C2orf29	-	NULL	ENSG00000158435		0.488	CNOT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf29	HGNC	protein_coding	OTTHUMT00000253181.1	117	0.00	0	G	NM_017546		101881387	101881387	+1	no_errors	ENST00000289382	ensembl	human	known	69_37n	missense	148	22.51	43	SNP	1.000	A
C2orf49	79074	genome.wustl.edu	37	2	105956116	105956116	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:105956116C>G	ENST00000258457.2	+	2	405	c.176C>G	c.(175-177)cCa>cGa	p.P59R	C2orf49_ENST00000410049.1_Missense_Mutation_p.P59R|C2orf49_ENST00000437250.2_Missense_Mutation_p.P97R|RP11-332H14.2_ENST00000610036.1_lincRNA			Q9BVC5	ASHWN_HUMAN	chromosome 2 open reading frame 49	59					embryonic morphogenesis (GO:0048598)	tRNA-splicing ligase complex (GO:0072669)				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6						CATGCAATACCATTGCCTCAG	0.368																																						dbGAP											0													89.0	90.0	89.0					2																	105956116		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC001310	CCDS2068.1, CCDS74550.1	2q12.2	2009-04-22			ENSG00000135974	ENSG00000135974			28772	protein-coding gene	gene with protein product	"""ashwin"""					12477932	Standard	NM_001286537		Approved	MGC5509, asw	uc002tcs.1	Q9BVC5	OTTHUMG00000130808	ENST00000258457.2:c.176C>G	2.37:g.105956116C>G	ENSP00000258457:p.Pro59Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXN3|B4E2G9	Missense_Mutation	SNP	NULL	p.P59R	ENST00000258457.2	37	c.176	CCDS2068.1	2	.	.	.	.	.	.	.	.	.	.	C	22.4	4.287661	0.80803	.	.	ENSG00000135974	ENST00000258457;ENST00000437250;ENST00000410049	D;D;D	0.87103	-2.21;-2.21;-2.21	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.94019	0.8084	M	0.81341	2.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94323	0.7555	10	0.87932	D	0	-11.156	19.5557	0.95347	0.0:1.0:0.0:0.0	.	97;59	B4E2G9;Q9BVC5	.;ASHWN_HUMAN	R	59;97;59	ENSP00000258457:P59R;ENSP00000400208:P97R;ENSP00000386361:P59R	ENSP00000258457:P59R	P	+	2	0	C2orf49	105322548	1.000000	0.71417	0.922000	0.36590	0.970000	0.65996	5.959000	0.70339	2.628000	0.89032	0.585000	0.79938	CCA	C2orf49	-	NULL	ENSG00000135974		0.368	C2orf49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf49	HGNC	protein_coding	OTTHUMT00000253353.2	64	0.00	0	C	NM_024093		105956116	105956116	+1	no_errors	ENST00000258457	ensembl	human	known	69_37n	missense	63	14.86	11	SNP	0.995	G
C2orf71	388939	genome.wustl.edu	37	2	29296731	29296731	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:29296731C>T	ENST00000331664.5	-	1	396	c.397G>A	c.(397-399)Gag>Aag	p.E133K		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	133					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TCCTCACTCTCATCTCCAGAA	0.473																																						dbGAP											0													245.0	234.0	238.0					2																	29296731		2034	4197	6231	-	-	-	SO:0001583	missense	0				CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.397G>A	2.37:g.29296731C>T	ENSP00000332809:p.Glu133Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.E133K	ENST00000331664.5	37	c.397	CCDS42669.1	2	.	.	.	.	.	.	.	.	.	.	C	12.36	1.915598	0.33815	.	.	ENSG00000179270	ENST00000331664	T	0.23754	1.89	5.24	4.36	0.52297	.	0.556470	0.17441	N	0.174103	T	0.35595	0.0937	M	0.64997	1.995	0.09310	N	1	D	0.53462	0.96	P	0.52856	0.711	T	0.21348	-1.0248	10	0.66056	D	0.02	-3.123	7.0448	0.25040	0.142:0.7147:0.0:0.1433	.	133	A6NGG8	CB071_HUMAN	K	133	ENSP00000332809:E133K	ENSP00000332809:E133K	E	-	1	0	C2orf71	29150235	0.084000	0.21492	0.210000	0.23637	0.046000	0.14306	0.781000	0.26774	1.197000	0.43143	0.561000	0.74099	GAG	C2orf71	-	NULL	ENSG00000179270		0.473	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	C2orf71	HGNC	protein_coding	OTTHUMT00000324924.3	212	0.00	0	C	NM_001029883		29296731	29296731	-1	no_errors	ENST00000331664	ensembl	human	novel	69_37n	missense	197	22.96	59	SNP	0.106	T
C2orf81	388963	genome.wustl.edu	37	2	74641993	74641993	+	Silent	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:74641993G>T	ENST00000517883.1	-	1	1717	c.1026C>A	c.(1024-1026)ctC>ctA	p.L342L	C2orf81_ENST00000290390.5_Silent_p.L410L			A6NN90	CB081_HUMAN	chromosome 2 open reading frame 81	403										endometrium(3)|kidney(1)	4						TGCCTGGCCGGAGAGGGAAGA	0.662																																						dbGAP											0													23.0	28.0	27.0					2																	74641993		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AC005041, CH471053		2p13.1	2012-08-07			ENSG00000159239	ENSG00000159239			34350	protein-coding gene	gene with protein product						15815621	Standard	NM_001145054		Approved	LOC388963, hCG40743	uc010yrq.1	A6NN90	OTTHUMG00000164184	ENST00000517883.1:c.1026C>A	2.37:g.74641993G>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.L410	ENST00000517883.1	37	c.1230		2																																																																																			C2orf81	-	NULL	ENSG00000159239		0.662	C2orf81-002	PUTATIVE	basic|appris_candidate	protein_coding	C2orf81	HGNC	protein_coding	OTTHUMT00000377683.1	36	0.00	0	G	NM_001145054		74641993	74641993	-1	no_errors	ENST00000290390	ensembl	human	known	69_37n	silent	43	23.21	13	SNP	0.003	T
CATIP	375307	genome.wustl.edu	37	2	219227513	219227513	+	Nonsense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:219227513C>G	ENST00000289388.3	+	6	547	c.518C>G	c.(517-519)tCa>tGa	p.S173*	C2orf62_ENST00000481940.1_Intron	NM_198559.1	NP_940961.1	Q7Z7H3	CATIP_HUMAN		173					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCTTCATCTCAGAGGCTGCC	0.592																																						dbGAP											0													80.0	75.0	77.0					2																	219227513		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0																														ENST00000289388.3:c.518C>G	2.37:g.219227513C>G	ENSP00000289388:p.Ser173*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	superfamily_cAMP_dep_PK_reg_su_I/II_a/b	p.S173*	ENST00000289388.3	37	c.518	CCDS2414.1	2	.	.	.	.	.	.	.	.	.	.	C	14.53	2.561818	0.45590	.	.	ENSG00000158428	ENST00000289388	.	.	.	4.7	4.7	0.59300	.	0.206998	0.41500	D	0.000877	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-18.9007	16.5575	0.84490	0.0:1.0:0.0:0.0	.	.	.	.	X	173	.	ENSP00000289388:S173X	S	+	2	0	C2orf62	218935757	0.998000	0.40836	0.197000	0.23402	0.018000	0.09664	3.705000	0.54823	2.428000	0.82296	0.655000	0.94253	TCA	C2orf62	-	NULL	ENSG00000158428		0.592	C2orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf62	HGNC	protein_coding	OTTHUMT00000256771.1	49	0.00	0	C			219227513	219227513	+1	no_errors	ENST00000289388	ensembl	human	known	69_37n	nonsense	65	14.47	11	SNP	0.988	G
C3	718	genome.wustl.edu	37	19	6686142	6686142	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:6686142G>C	ENST00000245907.6	-	29	3895	c.3803C>G	c.(3802-3804)tCt>tGt	p.S1268C		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1268					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	TGCCTGGGTAGAGCCATAGCC	0.582																																						dbGAP											0													155.0	144.0	148.0					19																	6686142		2203	4300	6503	-	-	-	SO:0001583	missense	0			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.3803C>G	19.37:g.6686142G>C	ENSP00000245907:p.Ser1268Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E236	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn	p.S1268C	ENST00000245907.6	37	c.3803	CCDS32883.1	19	.	.	.	.	.	.	.	.	.	.	g	14.43	2.531706	0.45073	.	.	ENSG00000125730	ENST00000245907	T	0.62364	0.03	6.16	4.04	0.47022	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.410395	0.29791	N	0.011196	D	0.86347	0.5911	H	0.98901	4.365	0.42524	D	0.993014	D	0.89917	1.0	D	0.97110	1.0	D	0.89373	0.3676	10	0.87932	D	0	.	11.14	0.48398	0.0:0.1245:0.6173:0.2582	.	1268	P01024	CO3_HUMAN	C	1268	ENSP00000245907:S1268C	ENSP00000245907:S1268C	S	-	2	0	C3	6637142	1.000000	0.71417	0.998000	0.56505	0.138000	0.21146	5.399000	0.66314	0.934000	0.37316	-0.860000	0.03012	TCT	C3	-	pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase	ENSG00000125730		0.582	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3	HGNC	protein_coding	OTTHUMT00000317636.2	75	0.00	0	G	NM_000064		6686142	6686142	-1	no_errors	ENST00000245907	ensembl	human	known	69_37n	missense	65	19.75	16	SNP	1.000	C
C3	718	genome.wustl.edu	37	19	6711101	6711101	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:6711101G>A	ENST00000245907.6	-	12	1468	c.1376C>T	c.(1375-1377)tCa>tTa	p.S459L		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	459					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	ACGTAGCACTGAGAGATGCAG	0.592																																						dbGAP											0													195.0	175.0	182.0					19																	6711101		2203	4300	6503	-	-	-	SO:0001583	missense	0			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.1376C>T	19.37:g.6711101G>A	ENSP00000245907:p.Ser459Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E236	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn	p.S459L	ENST00000245907.6	37	c.1376	CCDS32883.1	19	.	.	.	.	.	.	.	.	.	.	G	11.83	1.756982	0.31137	.	.	ENSG00000125730	ENST00000245907	T	0.63913	-0.07	5.12	4.09	0.47781	Alpha-2-macroglobulin, N-terminal 2 (1);	0.238265	0.41605	D	0.000858	T	0.71324	0.3326	M	0.87269	2.87	0.09310	N	1	P	0.41475	0.751	P	0.49047	0.599	T	0.63950	-0.6521	10	0.38643	T	0.18	.	8.4042	0.32605	0.0843:0.1554:0.7603:0.0	.	459	P01024	CO3_HUMAN	L	459	ENSP00000245907:S459L	ENSP00000245907:S459L	S	-	2	0	C3	6662101	0.901000	0.30685	0.207000	0.23584	0.032000	0.12392	3.453000	0.52978	1.169000	0.42739	-0.259000	0.10710	TCA	C3	-	pfam_A2M_N_2	ENSG00000125730		0.592	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3	HGNC	protein_coding	OTTHUMT00000317636.2	118	0.00	0	G	NM_000064		6711101	6711101	-1	no_errors	ENST00000245907	ensembl	human	known	69_37n	missense	101	21.09	27	SNP	0.125	A
C3orf20	84077	genome.wustl.edu	37	3	14724385	14724385	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:14724385C>T	ENST00000253697.3	+	3	617	c.165C>T	c.(163-165)atC>atT	p.I55I	C3orf20_ENST00000435614.1_Intron|C3orf20_ENST00000412910.1_Intron	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	55						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						AAGAGCTCATCAGTGACCCTT	0.547																																						dbGAP											0													135.0	135.0	135.0					3																	14724385		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.165C>T	3.37:g.14724385C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q7L0U6|Q8NCP2|Q9H0I7	Silent	SNP	NULL	p.I55	ENST00000253697.3	37	c.165	CCDS33706.1	3																																																																																			C3orf20	-	NULL	ENSG00000131379		0.547	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf20	HGNC	protein_coding	OTTHUMT00000340586.1	71	0.00	0	C	NM_032137		14724385	14724385	+1	no_errors	ENST00000253697	ensembl	human	known	69_37n	silent	76	19.15	18	SNP	0.061	T
MAATS1	89876	genome.wustl.edu	37	3	119462951	119462951	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:119462951G>A	ENST00000273390.5	+	14	1887	c.1810G>A	c.(1810-1812)Gag>Aag	p.E604K	RP11-169N13.4_ENST00000489428.2_RNA	NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	440						mitochondrion (GO:0005739)											CATGCTGGCTGAGCGCCAGCG	0.572																																						dbGAP											0													86.0	78.0	81.0					3																	119462951		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"""AMY-1-associating protein expressed in testis 1"", ""MYCBP-binding protein"", ""spermatogenesis associated 26"""	609910	"""chromosome 3 open reading frame 15"", ""MYCBP/AMY-1-associated, testis expressed 1"""	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.1810G>A	3.37:g.119462951G>A	ENSP00000273390:p.Glu604Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Missense_Mutation	SNP	superfamily_S-AdoMet_deCO2ase_core	p.E604K	ENST00000273390.5	37	c.1810	CCDS2994.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.760848	0.96906	.	.	ENSG00000183833	ENST00000273390	T	0.31769	1.48	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.62950	0.2470	M	0.85777	2.775	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.993;1.0;0.993	T	0.66484	-0.5912	10	0.59425	D	0.04	-6.8645	19.7305	0.96180	0.0:0.0:1.0:0.0	.	440;542;604	Q7Z4T9;Q7Z4T9-3;Q7Z4T9-7	AAT1_HUMAN;.;.	K	604	ENSP00000273390:E604K	ENSP00000273390:E604K	E	+	1	0	C3orf15	120945641	1.000000	0.71417	0.813000	0.32504	0.936000	0.57629	7.368000	0.79567	2.663000	0.90544	0.484000	0.47621	GAG	C3orf15	-	NULL	ENSG00000183833		0.572	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf15	HGNC	protein_coding	OTTHUMT00000355222.1	67	0.00	0	G	NM_033364		119462951	119462951	+1	no_errors	ENST00000273390	ensembl	human	known	69_37n	missense	52	50.94	54	SNP	1.000	A
TOPAZ1	375337	genome.wustl.edu	37	3	44285841	44285841	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:44285841G>A	ENST00000309765.4	+	2	2011	c.1843G>A	c.(1843-1845)Gat>Aat	p.D615N		NM_001145030.1	NP_001138502.1	Q8N9V7	TOPZ1_HUMAN	testis and ovary specific PAZ domain containing 1	615						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)										CACTACTGAAGATACTCAATT	0.338																																						dbGAP											0													48.0	39.0	42.0					3																	44285841		692	1591	2283	-	-	-	SO:0001583	missense	0			AK093476	CCDS46809.1	3p21.33	2012-10-08	2012-10-08	2012-10-08	ENSG00000173769	ENSG00000173769			24746	protein-coding gene	gene with protein product		614412	"""chromosome 3 open reading frame 77"""	C3orf77		22069478	Standard	NM_001145030		Approved	FLJ36157	uc003cna.4	Q8N9V7	OTTHUMG00000156172	ENST00000309765.4:c.1843G>A	3.37:g.44285841G>A	ENSP00000310303:p.Asp615Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.D615N	ENST00000309765.4	37	c.1843	CCDS46809.1	3	.	.	.	.	.	.	.	.	.	.	G	13.47	2.247108	0.39697	.	.	ENSG00000173769	ENST00000309765	T	0.13420	2.59	5.81	4.75	0.60458	.	0.137301	0.48286	D	0.000182	T	0.12860	0.0312	L	0.34521	1.04	0.31657	N	0.646012	P	0.49961	0.93	B	0.44044	0.439	T	0.02713	-1.1120	10	0.37606	T	0.19	-23.7324	12.73	0.57193	0.0912:0.0:0.9087:0.0	.	615	Q8N9V7	CC077_HUMAN	N	615	ENSP00000310303:D615N	ENSP00000310303:D615N	D	+	1	0	C3orf77	44260845	0.890000	0.30428	0.999000	0.59377	0.588000	0.36517	1.121000	0.31283	2.761000	0.94854	0.585000	0.79938	GAT	C3orf77	-	NULL	ENSG00000173769		0.338	TOPAZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf77	HGNC	protein_coding	OTTHUMT00000343247.1	36	0.00	0	G	NM_001145030		44285841	44285841	+1	no_errors	ENST00000309765	ensembl	human	known	69_37n	missense	45	22.41	13	SNP	1.000	A
LSMEM2	132228	genome.wustl.edu	37	3	50324238	50324238	+	Silent	SNP	C	C	T	rs116862338	byFrequency	TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:50324238C>T	ENST00000316436.3	+	3	393	c.306C>T	c.(304-306)ctC>ctT	p.L102L		NM_153215.1	NP_694947.1	Q8N112	LSME2_HUMAN	leucine-rich single-pass membrane protein 2	102						integral component of membrane (GO:0016021)											TGCTGCTGCTCGCGCTGCTGG	0.617													C|||	2	0.000399361	0.0008	0.0	5008	,	,		21209	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													85.0	81.0	82.0					3																	50324238		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK095927	CCDS2814.1	3p21.31	2013-03-08	2013-03-08	2013-03-08	ENSG00000179564	ENSG00000179564			26781	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 45"""	C3orf45			Standard	NM_153215		Approved	FLJ38608	uc003cyz.3	Q8N112	OTTHUMG00000156938	ENST00000316436.3:c.306C>T	3.37:g.50324238C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.L102	ENST00000316436.3	37	c.306	CCDS2814.1	3																																																																																			C3orf45	-	NULL	ENSG00000179564		0.617	LSMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf45	HGNC	protein_coding	OTTHUMT00000346671.1	56	0.00	0	C	NM_153215		50324238	50324238	+1	no_errors	ENST00000316436	ensembl	human	known	69_37n	silent	116	18.88	27	SNP	0.001	T
LSMEM2	132228	genome.wustl.edu	37	3	50324283	50324283	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:50324283C>G	ENST00000316436.3	+	3	438	c.351C>G	c.(349-351)gtC>gtG	p.V117V		NM_153215.1	NP_694947.1	Q8N112	LSME2_HUMAN	leucine-rich single-pass membrane protein 2	117						integral component of membrane (GO:0016021)											TCCTGGCTGTCTACCTGAGCG	0.607																																						dbGAP											0													69.0	64.0	66.0					3																	50324283		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK095927	CCDS2814.1	3p21.31	2013-03-08	2013-03-08	2013-03-08	ENSG00000179564	ENSG00000179564			26781	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 45"""	C3orf45			Standard	NM_153215		Approved	FLJ38608	uc003cyz.3	Q8N112	OTTHUMG00000156938	ENST00000316436.3:c.351C>G	3.37:g.50324283C>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.V117	ENST00000316436.3	37	c.351	CCDS2814.1	3																																																																																			C3orf45	-	NULL	ENSG00000179564		0.607	LSMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf45	HGNC	protein_coding	OTTHUMT00000346671.1	51	0.00	0	C	NM_153215		50324283	50324283	+1	no_errors	ENST00000316436	ensembl	human	known	69_37n	silent	104	16.13	20	SNP	1.000	G
C3orf67	200844	genome.wustl.edu	37	3	58728291	58728291	+	Missense_Mutation	SNP	C	C	G	rs150628334		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:58728291C>G	ENST00000482387.1	-	13	2062	c.1966G>C	c.(1966-1968)Gac>Cac	p.D656H	C3orf67_ENST00000295966.7_Missense_Mutation_p.D530H			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	656										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		ACACTGAGGTCTTCTTCACCT	0.498																																						dbGAP											0													112.0	89.0	97.0					3																	58728291		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK124920	CCDS33776.1	3p14.2	2011-01-25			ENSG00000163689	ENSG00000163689			24763	protein-coding gene	gene with protein product							Standard	NM_198463		Approved	FLJ42117, FLJ42930	uc003dkt.1	Q6ZVT6	OTTHUMG00000159151	ENST00000482387.1:c.1966G>C	3.37:g.58728291C>G	ENSP00000417122:p.Asp656His	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EKV6|Q6ZV69	Missense_Mutation	SNP	NULL	p.D656H	ENST00000482387.1	37	c.1966		3	.	.	.	.	.	.	.	.	.	.	C	16.93	3.259388	0.59321	.	.	ENSG00000163689	ENST00000295966;ENST00000482387	T;T	0.20463	2.08;2.07	5.55	5.55	0.83447	.	0.381272	0.27563	N	0.018813	T	0.18923	0.0454	L	0.43152	1.355	0.80722	D	1	P;P	0.51351	0.587;0.944	B;B	0.37198	0.104;0.243	T	0.01545	-1.1328	10	0.44086	T	0.13	-7.6784	16.6844	0.85301	0.0:0.871:0.129:0.0	.	530;656	Q6ZVT6-2;Q6ZVT6	.;CC067_HUMAN	H	530;656	ENSP00000295966:D530H;ENSP00000417122:D656H	ENSP00000295966:D530H	D	-	1	0	C3orf67	58703331	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	2.188000	0.42612	2.894000	0.99253	0.655000	0.94253	GAC	C3orf67	-	NULL	ENSG00000163689		0.498	C3orf67-003	KNOWN	basic	protein_coding	C3orf67	HGNC	protein_coding	OTTHUMT00000353803.1	53	0.00	0	C	NM_198463		58728291	58728291	-1	no_errors	ENST00000482387	ensembl	human	known	69_37n	missense	63	12.50	9	SNP	0.994	G
C3orf67	200844	genome.wustl.edu	37	3	58849331	58849331	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:58849331C>G	ENST00000482387.1	-	8	1267	c.1171G>C	c.(1171-1173)Gac>Cac	p.D391H	RP11-147N17.1_ENST00000493123.1_RNA|C3orf67_ENST00000295966.7_Missense_Mutation_p.D391H|RP11-147N17.1_ENST00000463703.1_RNA|RP11-147N17.1_ENST00000492031.1_RNA|RP11-147N17.1_ENST00000482372.1_RNA|C3orf67_ENST00000472469.1_Missense_Mutation_p.D298H			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	391										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		GATTGGGTGTCTCTGCTTGTC	0.453																																						dbGAP											0													88.0	81.0	83.0					3																	58849331		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK124920	CCDS33776.1	3p14.2	2011-01-25			ENSG00000163689	ENSG00000163689			24763	protein-coding gene	gene with protein product							Standard	NM_198463		Approved	FLJ42117, FLJ42930	uc003dkt.1	Q6ZVT6	OTTHUMG00000159151	ENST00000482387.1:c.1171G>C	3.37:g.58849331C>G	ENSP00000417122:p.Asp391His	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EKV6|Q6ZV69	Missense_Mutation	SNP	NULL	p.D391H	ENST00000482387.1	37	c.1171		3	.	.	.	.	.	.	.	.	.	.	C	15.62	2.888452	0.52014	.	.	ENSG00000163689	ENST00000295966;ENST00000482387;ENST00000394474;ENST00000472469	T;T;T	0.24538	1.99;1.85;1.86	5.12	4.25	0.50352	.	0.439021	0.22516	N	0.059031	T	0.43700	0.1259	M	0.66939	2.045	0.09310	N	0.999993	D;D;D	0.67145	0.996;0.986;0.995	P;P;P	0.61592	0.891;0.724;0.871	T	0.28038	-1.0056	10	0.59425	D	0.04	-4.9393	11.1822	0.48636	0.0:0.8019:0.1271:0.0711	.	298;391;391	C9J3M8;Q6ZVT6-2;Q6ZVT6	.;.;CC067_HUMAN	H	391;391;96;298	ENSP00000295966:D391H;ENSP00000417122:D391H;ENSP00000417271:D298H	ENSP00000295966:D391H	D	-	1	0	C3orf67	58824371	0.714000	0.27936	0.015000	0.15790	0.897000	0.52465	1.626000	0.37039	1.258000	0.44101	0.655000	0.94253	GAC	C3orf67	-	NULL	ENSG00000163689		0.453	C3orf67-003	KNOWN	basic	protein_coding	C3orf67	HGNC	protein_coding	OTTHUMT00000353803.1	97	0.00	0	C	NM_198463		58849331	58849331	-1	no_errors	ENST00000482387	ensembl	human	known	69_37n	missense	103	12.71	15	SNP	0.094	G
C3orf33	285315	genome.wustl.edu	37	3	155493550	155493550	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:155493550C>G	ENST00000340171.2	-	3	360	c.262G>C	c.(262-264)Gag>Cag	p.E88Q	C3orf33_ENST00000534941.1_Missense_Mutation_p.E45Q			Q6P1S2	CC033_HUMAN	chromosome 3 open reading frame 33	88					negative regulation of ERK1 and ERK2 cascade (GO:0070373)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)	p.E39Q(1)		breast(1)|kidney(1)|large_intestine(3)|lung(3)	8			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AAACCATTCTCAGTTATTCGG	0.303																																						dbGAP											1	Substitution - Missense(1)	breast(1)											100.0	101.0	101.0					3																	155493550		1810	4066	5876	-	-	-	SO:0001583	missense	0			AF115515	CCDS54659.1	3q25.31	2012-10-31			ENSG00000174928	ENSG00000174928			26434	protein-coding gene	gene with protein product						20680465	Standard	NM_173657		Approved	FLJ31139, AC3-33	uc003fal.1	Q6P1S2	OTTHUMG00000158496	ENST00000340171.2:c.262G>C	3.37:g.155493550C>G	ENSP00000342512:p.Glu88Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1H5|Q86YE6|Q8IXA7|Q96NB5	Missense_Mutation	SNP	superfamily_Staphylococal_nuclease_OB-fold	p.E88Q	ENST00000340171.2	37	c.262		3	.	.	.	.	.	.	.	.	.	.	C	19.39	3.819185	0.71028	.	.	ENSG00000174928	ENST00000534941;ENST00000340171;ENST00000537385	T;T	0.46451	0.87;0.87	5.45	4.58	0.56647	.	0.163304	0.52532	D	0.000070	T	0.55481	0.1923	M	0.69823	2.125	0.38121	D	0.93786	D	0.57571	0.98	P	0.55303	0.773	T	0.62798	-0.6778	10	0.49607	T	0.09	-5.8675	13.0044	0.58696	0.0:0.921:0.0:0.079	.	88	Q6P1S2	CC033_HUMAN	Q	45;88;88	ENSP00000445446:E45Q;ENSP00000342512:E88Q	ENSP00000342512:E88Q	E	-	1	0	C3orf33	156976244	0.993000	0.37304	0.496000	0.27539	0.996000	0.88848	3.472000	0.53114	1.298000	0.44778	0.655000	0.94253	GAG	C3orf33	-	superfamily_Staphylococal_nuclease_OB-fold	ENSG00000174928		0.303	C3orf33-001	KNOWN	basic	protein_coding	C3orf33	HGNC	protein_coding	OTTHUMT00000351167.1	103	0.00	0	C	NM_173657		155493550	155493550	-1	no_errors	ENST00000340171	ensembl	human	known	69_37n	missense	85	12.37	12	SNP	0.805	G
C4B	721	genome.wustl.edu	37	6	31995117	31995117	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:31995117C>T	ENST00000435363.2	+	21	2781	c.2697C>T	c.(2695-2697)ttC>ttT	p.F899F	C4B_ENST00000425700.2_Silent_p.F899F	NM_001002029.3	NP_001002029.3	P0C0L5	CO4B_HUMAN	complement component 4B (Chido blood group)	899					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|detection of molecule of bacterial origin (GO:0032490)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|complement binding (GO:0001848)|endopeptidase inhibitor activity (GO:0004866)									Intravenous Immunoglobulin(DB00028)	CTGTTGCCTTCTCTGTGGTGC	0.677																																						dbGAP											0													6.0	13.0	11.0					6																	31995117		622	1659	2281	-	-	-	SO:0001819	synonymous_variant	0			AF019413	CCDS47405.1	6p21.3	2014-09-17	2009-01-06		ENSG00000224389	ENSG00000224389		"""Blood group antigens"", ""Complement system"""	1324	protein-coding gene	gene with protein product		120820	"""complement component 4B"""				Standard	NM_001002029		Approved	CPAMD3, C4F, CO4, C4B1, C4B3, CH	uc011jpm.2	P0C0L5	OTTHUMG00000031187	ENST00000435363.2:c.2697C>T	6.37:g.31995117C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A2BHY4|P01028|P78445|Q13160|Q13906|Q14033|Q14835|Q6U2E9|Q6U2G1|Q6U2I5|Q6U2L1|Q6U2L7|Q6U2L9|Q6U2M5|Q6VCV8|Q96SA7|Q9NPK5|Q9UIP5	Silent	SNP	pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_Netrin_module_non-TIMP,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_TIMP-like_OB-fold,superfamily_Anaphylatoxin_,superfamily_Invasin/intimin_cell_adhesion,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn	p.F899	ENST00000435363.2	37	c.2697	CCDS47405.1	6																																																																																			C4B	-	NULL	ENSG00000224389		0.677	C4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C4B	HGNC	protein_coding	OTTHUMT00000076368.5	18	0.00	0	C	NM_001002029		31995117	31995117	+1	no_errors	ENST00000435363	ensembl	human	known	69_37n	silent	9	57.14	12	SNP	0.997	T
C4B	721	genome.wustl.edu	37	6	31996782	31996782	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:31996782C>T	ENST00000435363.2	+	27	3532	c.3448C>T	c.(3448-3450)Cat>Tat	p.H1150Y	C4B_ENST00000425700.2_Missense_Mutation_p.H1150Y	NM_001002029.3	NP_001002029.3	P0C0L5	CO4B_HUMAN	complement component 4B (Chido blood group)	1150					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|detection of molecule of bacterial origin (GO:0032490)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|complement binding (GO:0001848)|endopeptidase inhibitor activity (GO:0004866)									Intravenous Immunoglobulin(DB00028)	CATCGCCCTTCATCATGGGCT	0.567																																						dbGAP											0													14.0	17.0	16.0					6																	31996782		1342	2547	3889	-	-	-	SO:0001583	missense	0			AF019413	CCDS47405.1	6p21.3	2014-09-17	2009-01-06		ENSG00000224389	ENSG00000224389		"""Blood group antigens"", ""Complement system"""	1324	protein-coding gene	gene with protein product		120820	"""complement component 4B"""				Standard	NM_001002029		Approved	CPAMD3, C4F, CO4, C4B1, C4B3, CH	uc011jpm.2	P0C0L5	OTTHUMG00000031187	ENST00000435363.2:c.3448C>T	6.37:g.31996782C>T	ENSP00000415941:p.His1150Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A2BHY4|P01028|P78445|Q13160|Q13906|Q14033|Q14835|Q6U2E9|Q6U2G1|Q6U2I5|Q6U2L1|Q6U2L7|Q6U2L9|Q6U2M5|Q6VCV8|Q96SA7|Q9NPK5|Q9UIP5	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_Netrin_module_non-TIMP,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_TIMP-like_OB-fold,superfamily_Anaphylatoxin_,superfamily_Invasin/intimin_cell_adhesion,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn	p.H1150Y	ENST00000435363.2	37	c.3448	CCDS47405.1	6	.	.	.	.	.	.	.	.	.	.	C	10.85	1.465800	0.26335	.	.	ENSG00000224389	ENST00000435363;ENST00000425700	T;T	0.13657	2.57;2.57	4.59	3.71	0.42584	.	0.555890	0.20010	N	0.101146	T	0.04634	0.0126	L	0.43554	1.36	0.30352	N	0.784631	B;B	0.16603	0.006;0.018	B;B	0.22880	0.019;0.042	T	0.22068	-1.0227	10	0.33940	T	0.23	.	7.6722	0.28465	0.0:0.8849:0.0:0.1151	.	1150;1150	F5GXS0;Q6U2E9	.;.	Y	1150	ENSP00000415941:H1150Y;ENSP00000391933:H1150Y	ENSP00000391933:H1150Y	H	+	1	0	C4B	32104760	0.544000	0.26441	0.986000	0.45419	0.982000	0.71751	1.902000	0.39848	2.116000	0.64780	0.558000	0.71614	CAT	C4B	-	pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase	ENSG00000224389		0.567	C4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C4B	HGNC	protein_coding	OTTHUMT00000076368.5	40	0.00	0	C	NM_001002029		31996782	31996782	+1	no_errors	ENST00000435363	ensembl	human	known	69_37n	missense	39	26.42	14	SNP	0.828	T
ZGRF1	55345	genome.wustl.edu	37	4	113460742	113460742	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:113460742C>G	ENST00000505019.1	-	28	6401	c.6276G>C	c.(6274-6276)aaG>aaC	p.K2092N	RP11-402J6.1_ENST00000504009.1_RNA	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		2092						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		CTTTTTCACTCTTTTTCTTCT	0.294																																						dbGAP											0													69.0	67.0	68.0					4																	113460742		2198	4295	6493	-	-	-	SO:0001583	missense	0																														ENST00000505019.1:c.6276G>C	4.37:g.113460742C>G	ENSP00000424737:p.Lys2092Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	pfam_DUF2439,pfam_Znf_GRF	p.K2092N	ENST00000505019.1	37	c.6276		4	.	.	.	.	.	.	.	.	.	.	C	10.58	1.391023	0.25118	.	.	ENSG00000138658	ENST00000505019	D	0.83075	-1.68	5.22	2.27	0.28462	.	0.838060	0.10943	N	0.617092	T	0.72439	0.3460	L	0.32530	0.975	0.19300	N	0.999977	B;B	0.27679	0.185;0.003	B;B	0.33846	0.171;0.004	T	0.59747	-0.7396	10	0.29301	T	0.29	-8.0167	3.2823	0.06920	0.4588:0.3894:0.0:0.1518	.	2092;550	G5EA02;B3KQX2	.;.	N	2092	ENSP00000424737:K2092N	ENSP00000424737:K2092N	K	-	3	2	C4orf21	113680191	0.005000	0.15991	0.086000	0.20670	0.859000	0.49053	-0.042000	0.12063	1.285000	0.44548	0.555000	0.69702	AAG	C4orf21	-	NULL	ENSG00000138658		0.294	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	C4orf21	HGNC	protein_coding	OTTHUMT00000256413.1	199	0.00	0	C			113460742	113460742	-1	no_errors	ENST00000505019	ensembl	human	known	69_37n	missense	163	19.70	40	SNP	0.171	G
ZGRF1	55345	genome.wustl.edu	37	4	113502847	113502847	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:113502847C>T	ENST00000505019.1	-	16	4535	c.4410G>A	c.(4408-4410)cgG>cgA	p.R1470R		NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		1470						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		ATCTTTCCTTCCGACTTAGCT	0.328																																						dbGAP											0													112.0	107.0	109.0					4																	113502847		2203	4298	6501	-	-	-	SO:0001819	synonymous_variant	0																														ENST00000505019.1:c.4410G>A	4.37:g.113502847C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Silent	SNP	pfam_DUF2439,pfam_Znf_GRF	p.R1470	ENST00000505019.1	37	c.4410		4																																																																																			C4orf21	-	NULL	ENSG00000138658		0.328	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	C4orf21	HGNC	protein_coding	OTTHUMT00000256413.1	150	0.00	0	C			113502847	113502847	-1	no_errors	ENST00000505019	ensembl	human	known	69_37n	silent	109	17.42	23	SNP	0.999	T
ZGRF1	55345	genome.wustl.edu	37	4	113541344	113541344	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:113541344C>T	ENST00000505019.1	-	5	290	c.165G>A	c.(163-165)gtG>gtA	p.V55V	C4orf21_ENST00000445203.2_Silent_p.V24V|C4orf21_ENST00000309071.5_Silent_p.V55V	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		55						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		CTCCAGGTTTCACCTGAAAGA	0.348																																						dbGAP											0													67.0	65.0	65.0					4																	113541344		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0																														ENST00000505019.1:c.165G>A	4.37:g.113541344C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Silent	SNP	pfam_DUF2439,pfam_Znf_GRF	p.V55	ENST00000505019.1	37	c.165		4																																																																																			C4orf21	-	pfam_DUF2439	ENSG00000138658		0.348	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	C4orf21	HGNC	protein_coding	OTTHUMT00000256413.1	65	0.00	0	C			113541344	113541344	-1	no_errors	ENST00000505019	ensembl	human	known	69_37n	silent	28	56.92	37	SNP	1.000	T
C5orf42	65250	genome.wustl.edu	37	5	37108570	37108570	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:37108570G>C	ENST00000508244.1	-	50	9335	c.9242C>G	c.(9241-9243)tCt>tGt	p.S3081C	C5orf42_ENST00000425232.2_Missense_Mutation_p.S3081C|C5orf42_ENST00000274258.7_Missense_Mutation_p.S1979C			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	3081						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CGGAGCATTAGAGCCTTTTAA	0.398																																						dbGAP											0													103.0	95.0	98.0					5																	37108570		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.9242C>G	5.37:g.37108570G>C	ENSP00000421690:p.Ser3081Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	superfamily_Quino_amine_DH_bsu	p.S3081C	ENST00000508244.1	37	c.9242	CCDS34146.2	5	.	.	.	.	.	.	.	.	.	.	G	15.35	2.806074	0.50421	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	4.78	2.04	0.26737	.	0.411149	0.23282	N	0.049900	T	0.59729	0.2215	L	0.58101	1.795	0.09310	N	1	D;D	0.69078	0.99;0.997	P;D	0.63192	0.723;0.912	T	0.47341	-0.9125	10	0.56958	D	0.05	.	6.1393	0.20251	0.3099:0.0:0.6901:0.0	.	3081;1979	E9PH94;Q9H799	.;CE042_HUMAN	C	3081;3081;1979;2147	ENSP00000421690:S3081C;ENSP00000389014:S3081C;ENSP00000274258:S1979C;ENSP00000424223:S2147C	ENSP00000274258:S1979C	S	-	2	0	C5orf42	37144327	0.007000	0.16637	0.002000	0.10522	0.019000	0.09904	1.534000	0.36051	0.743000	0.32719	-0.136000	0.14681	TCT	C5orf42	-	NULL	ENSG00000197603		0.398	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C5orf42	HGNC	protein_coding	OTTHUMT00000360806.1	78	0.00	0	G	NM_023073		37108570	37108570	-1	no_errors	ENST00000425232	ensembl	human	known	69_37n	missense	64	24.42	21	SNP	0.001	C
C5orf42	65250	genome.wustl.edu	37	5	37226482	37226482	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:37226482G>C	ENST00000508244.1	-	11	2308	c.2215C>G	c.(2215-2217)Cag>Gag	p.Q739E	C5orf42_ENST00000425232.2_Missense_Mutation_p.Q739E|C5orf42_ENST00000274258.7_5'UTR			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	739						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CAGTTTTTCTGAAAACCACTA	0.363																																						dbGAP											0													36.0	30.0	32.0					5																	37226482		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.2215C>G	5.37:g.37226482G>C	ENSP00000421690:p.Gln739Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	superfamily_Quino_amine_DH_bsu	p.Q739E	ENST00000508244.1	37	c.2215	CCDS34146.2	5	.	.	.	.	.	.	.	.	.	.	G	3.189	-0.166127	0.06461	.	.	ENSG00000197603	ENST00000508244;ENST00000425232	T;T	0.21932	1.98;1.98	5.11	1.03	0.20045	.	1.306220	0.05309	U	0.524516	T	0.17534	0.0421	L	0.40543	1.245	0.19300	N	0.999977	B	0.09022	0.002	B	0.08055	0.003	T	0.30995	-0.9959	10	0.28530	T	0.3	8.6853	6.0109	0.19575	0.0711:0.2251:0.5729:0.1309	.	739	E9PH94	.	E	739	ENSP00000421690:Q739E;ENSP00000389014:Q739E	ENSP00000389014:Q739E	Q	-	1	0	C5orf42	37262239	0.457000	0.25752	0.000000	0.03702	0.636000	0.38137	1.217000	0.32455	-0.110000	0.12022	0.591000	0.81541	CAG	C5orf42	-	NULL	ENSG00000197603		0.363	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C5orf42	HGNC	protein_coding	OTTHUMT00000360806.1	34	0.00	0	G	NM_023073		37226482	37226482	-1	no_errors	ENST00000425232	ensembl	human	known	69_37n	missense	24	14.29	4	SNP	0.006	C
SIMC1	375484	genome.wustl.edu	37	5	175717603	175717603	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:175717603C>T	ENST00000443967.1	+	4	1426	c.1019C>T	c.(1018-1020)tCa>tTa	p.S340L	SIMC1_ENST00000430704.2_Intron|SIMC1_ENST00000341199.6_Intron|SIMC1_ENST00000429602.2_Missense_Mutation_p.S359L			Q8NDZ2	SIMC1_HUMAN	SUMO-interacting motifs containing 1	340	Pro-rich.						SUMO polymer binding (GO:0032184)										GTGACACACTCACCTAGAGAC	0.527																																						dbGAP											0													192.0	186.0	188.0					5																	175717603		2203	4297	6500	-	-	-	SO:0001583	missense	0			BC037298	CCDS4398.2	5q35.2	2013-08-14	2012-11-14	2012-11-14	ENSG00000170085	ENSG00000170085			24779	protein-coding gene	gene with protein product	"""oocyte maturation associated 1"", ""platform element for inhibition of autolytic degradation"""		"""chromosome 5 open reading frame 25"""	C5orf25		23086935, 23707407	Standard	NM_198567		Approved	FLJ44216, OOMA1, PLEIAD	uc003mds.4	Q8NDZ2	OTTHUMG00000130663	ENST00000443967.1:c.1019C>T	5.37:g.175717603C>T	ENSP00000406571:p.Ser340Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	J3KQQ8|Q6NXN8|Q6ZTU4|Q8IZ15	Missense_Mutation	SNP	NULL	p.S340L	ENST00000443967.1	37	c.1019		5	.	.	.	.	.	.	.	.	.	.	C	3.304	-0.142327	0.06669	.	.	ENSG00000170085	ENST00000443967;ENST00000429602;ENST00000377277	T;T	0.33438	2.05;1.41	3.13	1.3	0.21679	.	1.080670	0.07227	N	0.861911	T	0.23133	0.0559	.	.	.	0.09310	N	1	B;B	0.11235	0.004;0.0	B;B	0.08055	0.003;0.002	T	0.31447	-0.9943	9	0.72032	D	0.01	-0.7184	5.5055	0.16852	0.0:0.7325:0.0:0.2675	.	359;340	B4DRM7;Q8NDZ2	.;CE025_HUMAN	L	340;359;251	ENSP00000406571:S340L;ENSP00000410552:S359L	ENSP00000366489:S251L	S	+	2	0	C5orf25	175650209	0.056000	0.20664	0.001000	0.08648	0.004000	0.04260	0.677000	0.25262	0.332000	0.23536	0.505000	0.49811	TCA	C5orf25	-	NULL	ENSG00000170085		0.527	SIMC1-001	KNOWN	basic	protein_coding	C5orf25	HGNC	protein_coding	OTTHUMT00000253155.2	72	0.00	0	C	NM_198567		175717603	175717603	+1	no_errors	ENST00000443967	ensembl	human	known	69_37n	missense	85	11.46	11	SNP	0.010	T
C5orf60	285679	genome.wustl.edu	37	5	179069389	179069389	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:179069389G>C	ENST00000448248.2	-	5	810	c.785C>G	c.(784-786)tCc>tGc	p.S262C	C5orf60_ENST00000506142.1_5'Flank	NM_001142306.1	NP_001135778.1	A6NFR6	CE060_HUMAN	chromosome 5 open reading frame 60	151						integral component of membrane (GO:0016021)				NS(1)|breast(1)|kidney(5)	7						GTGTCCATGGGAGTGTCTGGG	0.577																																						dbGAP											0													159.0	141.0	147.0					5																	179069389		692	1591	2283	-	-	-	SO:0001583	missense	0			BC043435	CCDS47353.1	5q35.3	2010-08-19			ENSG00000204661	ENSG00000204661			27753	protein-coding gene	gene with protein product						12477932	Standard	NM_001142306		Approved		uc003mki.3	A6NFR6	OTTHUMG00000163221	ENST00000448248.2:c.785C>G	5.37:g.179069389G>C	ENSP00000404583:p.Ser262Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L488|B7ZM52|B7ZM53	Missense_Mutation	SNP	NULL	p.S262C	ENST00000448248.2	37	c.785	CCDS47353.1	5	.	.	.	.	.	.	.	.	.	.	g	3.721	-0.057637	0.07317	.	.	ENSG00000204661	ENST00000448248	T	0.29142	1.58	0.517	-0.74	0.11115	.	.	.	.	.	T	0.44953	0.1318	.	.	.	0.09310	N	1	D;D	0.71674	0.998;0.998	D;D	0.65773	0.938;0.938	T	0.30909	-0.9962	7	0.87932	D	0	.	.	.	.	.	266;262	A6NFR6-2;A6NFR6-4	.;.	C	262	ENSP00000404583:S262C	ENSP00000404583:S262C	S	-	2	0	C5orf60	179001995	0.029000	0.19370	0.002000	0.10522	0.018000	0.09664	0.490000	0.22403	-0.432000	0.07297	-0.851000	0.03033	TCC	C5orf60	-	NULL	ENSG00000204661		0.577	C5orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5orf60	HGNC	protein_coding	OTTHUMT00000372148.2	204	0.00	0	G	NM_001142306		179069389	179069389	-1	no_errors	ENST00000448248	ensembl	human	known	69_37n	missense	155	26.42	56	SNP	0.002	C
C5orf45	51149	genome.wustl.edu	37	5	179264713	179264713	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:179264713C>G	ENST00000292586.6	-	7	800	c.710G>C	c.(709-711)aGa>aCa	p.R237T	C5orf45_ENST00000520698.1_Intron|C5orf45_ENST00000518219.1_3'UTR|C5orf45_ENST00000523267.1_5'UTR|C5orf45_ENST00000403396.2_Intron|SQSTM1_ENST00000389805.4_3'UTR|C5orf45_ENST00000523084.1_Missense_Mutation_p.R103T|SQSTM1_ENST00000376929.3_3'UTR|C5orf45_ENST00000521333.1_3'UTR|C5orf45_ENST00000518235.1_Intron|C5orf45_ENST00000376931.2_Missense_Mutation_p.R182T	NM_016175.3	NP_057259.2	Q6NTE8	CE045_HUMAN	chromosome 5 open reading frame 45	237										breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						TGAACTTTTTCTAGGTGGCAG	0.582																																						dbGAP											0													79.0	83.0	82.0					5																	179264713		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34318.1, CCDS34319.1	5q35.3	2008-07-10			ENSG00000161010	ENSG00000161010			30817	protein-coding gene	gene with protein product	"""truncated calcium binding protein"""						Standard	NM_016175		Approved	MGC65027, MGC78537, DKFZp686L2452, LOC51149	uc003mla.3	Q6NTE8	OTTHUMG00000163490	ENST00000292586.6:c.710G>C	5.37:g.179264713C>G	ENSP00000292586:p.Arg237Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MD09|E9PAK6|Q7Z3D8|Q9BUC1|Q9UN54	Missense_Mutation	SNP	NULL	p.R237T	ENST00000292586.6	37	c.710	CCDS34319.1	5	.	.	.	.	.	.	.	.	.	.	C	10.41	1.343633	0.24339	.	.	ENSG00000161010	ENST00000376931;ENST00000523084;ENST00000292586	T;T;T	0.31769	2.23;1.48;2.23	4.67	-2.12	0.07165	.	1.072360	0.07191	N	0.855762	T	0.15435	0.0372	N	0.22421	0.69	0.09310	N	1	B;B	0.30406	0.278;0.278	B;B	0.30316	0.114;0.114	T	0.24835	-1.0149	10	0.27785	T	0.31	-0.0235	0.7006	0.00907	0.1642:0.2817:0.2758:0.2783	.	182;237	E9PAK6;Q6NTE8	.;CE045_HUMAN	T	182;103;237	ENSP00000366130:R182T;ENSP00000429107:R103T;ENSP00000292586:R237T	ENSP00000292586:R237T	R	-	2	0	C5orf45	179197319	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-0.376000	0.07465	-0.304000	0.08843	0.491000	0.48974	AGA	C5orf45	-	NULL	ENSG00000161010		0.582	C5orf45-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C5orf45	HGNC	protein_coding	OTTHUMT00000373760.2	70	0.00	0	C	NM_016175		179264713	179264713	-1	no_errors	ENST00000292586	ensembl	human	known	69_37n	missense	62	21.52	17	SNP	0.000	G
C6orf89	221477	genome.wustl.edu	37	6	36867365	36867365	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:36867365C>T	ENST00000480824.2	+	3	439	c.145C>T	c.(145-147)Cag>Tag	p.Q49*	C6orf89_ENST00000359359.2_5'UTR|C6orf89_ENST00000510325.2_5'UTR|C6orf89_ENST00000355190.3_Nonsense_Mutation_p.Q56*|C6orf89_ENST00000373685.1_Nonsense_Mutation_p.Q49*			Q6UWU4	CF089_HUMAN	chromosome 6 open reading frame 89	49					epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						GAATGAACCTCAGAGACCCCC	0.428																																						dbGAP											0													65.0	71.0	69.0					6																	36867365		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK058086	CCDS4827.1, CCDS69100.1, CCDS75444.1	6p21.31	2013-03-14			ENSG00000198663	ENSG00000198663			21114	protein-coding gene	gene with protein product	"""bombesin receptor activated protein"""					21857995, 23460338	Standard	NM_152734		Approved	FLJ25357, BRAP	uc003omw.3	Q6UWU4	OTTHUMG00000014613	ENST00000480824.2:c.145C>T	6.37:g.36867365C>T	ENSP00000475947:p.Gln49*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Nonsense_Mutation	SNP	NULL	p.Q56*	ENST00000480824.2	37	c.166		6	.	.	.	.	.	.	.	.	.	.	C	38	6.975002	0.97975	.	.	ENSG00000198663	ENST00000355190;ENST00000373685;ENST00000416621;ENST00000540072	.	.	.	6.08	6.08	0.98989	.	0.067233	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-8.5836	18.844	0.92196	0.0:1.0:0.0:0.0	.	.	.	.	X	56;49;56;55	.	ENSP00000347322:Q56X	Q	+	1	0	C6orf89	36975343	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	3.541000	0.53618	2.894000	0.99253	0.655000	0.94253	CAG	C6orf89	-	NULL	ENSG00000198663		0.428	C6orf89-004	KNOWN	alternative_5_UTR|basic	protein_coding	C6orf89	HGNC	protein_coding	OTTHUMT00000040387.2	119	0.00	0	C	NM_152734		36867365	36867365	+1	no_errors	ENST00000355190	ensembl	human	known	69_37n	nonsense	68	20.93	18	SNP	1.000	T
C6orf211	79624	genome.wustl.edu	37	6	151773702	151773702	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:151773702C>G	ENST00000367294.3	+	1	281	c.22C>G	c.(22-24)Ctc>Gtc	p.L8V	RMND1_ENST00000367303.4_5'Flank|C6orf211_ENST00000545879.1_5'UTR|C6orf211_ENST00000483931.1_3'UTR	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	8										breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		CCCGGCGTCTCTCTCAGGACA	0.647																																						dbGAP											0													72.0	76.0	75.0					6																	151773702		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ420548	CCDS5233.1, CCDS69224.1	6q25.1	2013-01-07			ENSG00000146476	ENSG00000146476			17872	protein-coding gene	gene with protein product							Standard	NM_001286562		Approved	FLJ12910	uc003qok.1	Q9H993	OTTHUMG00000015838	ENST00000367294.3:c.22C>G	6.37:g.151773702C>G	ENSP00000356263:p.Leu8Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96FC6|Q9UFY5	Missense_Mutation	SNP	pfam_DUF89,superfamily_DUF89	p.L8V	ENST00000367294.3	37	c.22	CCDS5233.1	6	.	.	.	.	.	.	.	.	.	.	C	11.32	1.604219	0.28534	.	.	ENSG00000146476	ENST00000367294	T	0.10477	2.87	4.12	4.12	0.48240	.	0.357644	0.23393	N	0.048662	T	0.09024	0.0223	M	0.79926	2.475	0.80722	D	1	P	0.36162	0.54	B	0.35182	0.197	T	0.01639	-1.1306	10	0.45353	T	0.12	.	12.1904	0.54268	0.0:1.0:0.0:0.0	.	8	Q9H993	CF211_HUMAN	V	8	ENSP00000356263:L8V	ENSP00000356263:L8V	L	+	1	0	C6orf211	151815395	0.789000	0.28775	0.118000	0.21660	0.185000	0.23345	1.584000	0.36589	2.573000	0.86826	0.467000	0.42956	CTC	C6orf211	-	NULL	ENSG00000146476		0.647	C6orf211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf211	HGNC	protein_coding	OTTHUMT00000042724.1	50	0.00	0	C	NM_024573		151773702	151773702	+1	no_errors	ENST00000367294	ensembl	human	known	69_37n	missense	28	20.00	7	SNP	0.150	G
C7orf26	79034	genome.wustl.edu	37	7	6639513	6639513	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:6639513G>A	ENST00000344417.5	+	4	901	c.634G>A	c.(634-636)Gag>Aag	p.E212K	C7orf26_ENST00000359073.5_Missense_Mutation_p.E193K|C7orf26_ENST00000472693.1_3'UTR	NM_024067.2	NP_076972.2	Q96N11	CG026_HUMAN	chromosome 7 open reading frame 26	212										endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	11		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		CTGGATTTTTGAGGACCCAAG	0.468																																						dbGAP											0													168.0	157.0	161.0					7																	6639513		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC005121	CCDS5353.1	7p22.1	2011-11-24			ENSG00000146576	ENSG00000146576			21702	protein-coding gene	gene with protein product							Standard	NM_024067		Approved	MGC2718	uc003sqo.1	Q96N11	OTTHUMG00000125517	ENST00000344417.5:c.634G>A	7.37:g.6639513G>A	ENSP00000340220:p.Glu212Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BQ43	Missense_Mutation	SNP	NULL	p.E212K	ENST00000344417.5	37	c.634	CCDS5353.1	7	.	.	.	.	.	.	.	.	.	.	G	19.23	3.786852	0.70337	.	.	ENSG00000146576	ENST00000344417;ENST00000359073	T;T	0.47528	0.84;0.84	5.08	5.08	0.68730	.	0.087086	0.85682	D	0.000000	T	0.47284	0.1437	L	0.46741	1.465	0.58432	D	0.999997	P;P	0.44139	0.827;0.827	B;B	0.44133	0.345;0.442	T	0.38802	-0.9644	10	0.36615	T	0.2	-38.5895	16.7774	0.85555	0.0:0.0:1.0:0.0	.	193;212	Q96N11-2;Q96N11	.;CG026_HUMAN	K	212;193	ENSP00000340220:E212K;ENSP00000351974:E193K	ENSP00000340220:E212K	E	+	1	0	C7orf26	6606038	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	9.505000	0.97989	2.752000	0.94435	0.555000	0.69702	GAG	C7orf26	-	NULL	ENSG00000146576		0.468	C7orf26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C7orf26	HGNC	protein_coding	OTTHUMT00000246844.2	123	0.00	0	G	NM_024067		6639513	6639513	+1	no_errors	ENST00000344417	ensembl	human	known	69_37n	missense	79	19.39	19	SNP	1.000	A
C7orf26	79034	genome.wustl.edu	37	7	6639567	6639567	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:6639567C>T	ENST00000344417.5	+	4	955	c.688C>T	c.(688-690)Ctg>Ttg	p.L230L	C7orf26_ENST00000359073.5_Intron|C7orf26_ENST00000472693.1_3'UTR	NM_024067.2	NP_076972.2	Q96N11	CG026_HUMAN	chromosome 7 open reading frame 26	230										endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	11		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		TGCGGCCAATCTGCCAATAGG	0.468																																						dbGAP											0													96.0	93.0	94.0					7																	6639567		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC005121	CCDS5353.1	7p22.1	2011-11-24			ENSG00000146576	ENSG00000146576			21702	protein-coding gene	gene with protein product							Standard	NM_024067		Approved	MGC2718	uc003sqo.1	Q96N11	OTTHUMG00000125517	ENST00000344417.5:c.688C>T	7.37:g.6639567C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BQ43	Silent	SNP	NULL	p.L230	ENST00000344417.5	37	c.688	CCDS5353.1	7																																																																																			C7orf26	-	NULL	ENSG00000146576		0.468	C7orf26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C7orf26	HGNC	protein_coding	OTTHUMT00000246844.2	99	0.00	0	C	NM_024067		6639567	6639567	+1	no_errors	ENST00000344417	ensembl	human	known	69_37n	silent	65	20.73	17	SNP	0.839	T
C7orf43	55262	genome.wustl.edu	37	7	99754158	99754158	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:99754158C>T	ENST00000316937.3	-	8	1276	c.1091G>A	c.(1090-1092)cGc>cAc	p.R364H	MIR4658_ENST00000584344.1_RNA|C7orf43_ENST00000457641.1_Missense_Mutation_p.R95H|C7orf43_ENST00000394035.2_5'Flank|C7orf43_ENST00000419841.1_Missense_Mutation_p.R132H|C7orf43_ENST00000498638.1_5'UTR	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN	chromosome 7 open reading frame 43	364										breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCGGTCCAAGCGGACACTGGG	0.567																																						dbGAP											0													70.0	70.0	70.0					7																	99754158		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5687.1	7q22.1	2011-11-25			ENSG00000146826	ENSG00000146826			25604	protein-coding gene	gene with protein product						12477932	Standard	NM_018275		Approved	FLJ10925	uc003utr.3	Q8WVR3	OTTHUMG00000154862	ENST00000316937.3:c.1091G>A	7.37:g.99754158C>T	ENSP00000324741:p.Arg364His	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D2A9|D6W5U4|Q9BQJ1|Q9BUB6|Q9NV47	Missense_Mutation	SNP	NULL	p.R364H	ENST00000316937.3	37	c.1091	CCDS5687.1	7	.	.	.	.	.	.	.	.	.	.	C	15.68	2.906546	0.52333	.	.	ENSG00000146826	ENST00000457641;ENST00000316937;ENST00000419841	T;T;T	0.50548	0.75;0.74;0.75	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.55784	0.1942	N	0.19112	0.55	0.48040	D	0.999575	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.991	T	0.59506	-0.7442	10	0.62326	D	0.03	-22.0644	17.3306	0.87262	0.0:1.0:0.0:0.0	.	132;364	E9PFF9;Q8WVR3	.;CG043_HUMAN	H	95;364;132	ENSP00000396432:R95H;ENSP00000324741:R364H;ENSP00000406326:R132H	ENSP00000324741:R364H	R	-	2	0	C7orf43	99592094	1.000000	0.71417	1.000000	0.80357	0.647000	0.38526	5.145000	0.64839	2.702000	0.92279	0.561000	0.74099	CGC	C7orf43	-	NULL	ENSG00000146826		0.567	C7orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C7orf43	HGNC	protein_coding	OTTHUMT00000337395.2	70	0.00	0	C	NM_018275		99754158	99754158	-1	no_errors	ENST00000316937	ensembl	human	known	69_37n	missense	82	32.79	40	SNP	1.000	T
C7orf72	100130988	genome.wustl.edu	37	7	50143987	50143987	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:50143987G>C	ENST00000297001.6	+	2	681	c.631G>C	c.(631-633)Gat>Cat	p.D211H		NM_001161834.2	NP_001155306	A4D263	CG072_HUMAN	chromosome 7 open reading frame 72	211										NS(1)|breast(1)|endometrium(2)|kidney(1)|lung(1)|ovary(1)|prostate(2)	9						ATTTACATTTGATGAGGAGGC	0.308																																						dbGAP											0													153.0	113.0	125.0					7																	50143987		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS47585.1	7p12.2	2009-10-15			ENSG00000164500	ENSG00000164500			22564	protein-coding gene	gene with protein product							Standard	NM_001161834		Approved		uc011kcj.2	A4D263	OTTHUMG00000155883	ENST00000297001.6:c.631G>C	7.37:g.50143987G>C	ENSP00000297001:p.Asp211His	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDX9	Missense_Mutation	SNP	NULL	p.D211H	ENST00000297001.6	37	c.631	CCDS47585.1	7	.	.	.	.	.	.	.	.	.	.	G	10.91	1.482857	0.26598	.	.	ENSG00000164500	ENST00000297001	.	.	.	4.26	2.45	0.29901	.	.	.	.	.	T	0.39436	0.1078	L	0.40543	1.245	0.18873	N	0.999986	P	0.52061	0.95	P	0.55999	0.789	T	0.11665	-1.0578	7	.	.	.	.	6.161	0.20364	0.222:0.0:0.778:0.0	.	211	A4D263	CG072_HUMAN	H	211	.	.	D	+	1	0	C7orf72	50114533	0.987000	0.35691	0.330000	0.25442	0.259000	0.26198	0.502000	0.22594	0.749000	0.32854	0.650000	0.86243	GAT	C7orf72	-	NULL	ENSG00000164500		0.308	C7orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C7orf72	HGNC	protein_coding	OTTHUMT00000342124.1	123	0.00	0	G	NM_001161834		50143987	50143987	+1	no_errors	ENST00000297001	ensembl	human	known	69_37n	missense	80	29.82	34	SNP	0.479	C
CFAP69	79846	genome.wustl.edu	37	7	89897668	89897668	+	Missense_Mutation	SNP	C	C	G	rs201631766		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:89897668C>G	ENST00000389297.4	+	6	753	c.502C>G	c.(502-504)Cat>Gat	p.H168D	C7orf63_ENST00000316089.8_Missense_Mutation_p.H168D|C7orf63_ENST00000463311.1_3'UTR|C7orf63_ENST00000497910.1_Intron|AC002064.4_ENST00000420245.1_RNA	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		168										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						TGATTTTTATCATGCAGAACC	0.333																																						dbGAP											0													119.0	110.0	112.0					7																	89897668		1857	4104	5961	-	-	-	SO:0001583	missense	0																														ENST00000389297.4:c.502C>G	7.37:g.89897668C>G	ENSP00000373948:p.His168Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.H168D	ENST00000389297.4	37	c.502	CCDS43613.2	7	.	.	.	.	.	.	.	.	.	.	C	14.31	2.497768	0.44455	.	.	ENSG00000105792	ENST00000389297;ENST00000316089;ENST00000457170	T;T;T	0.39229	1.09;1.09;1.09	5.71	5.71	0.89125	.	0.351257	0.28996	N	0.013479	T	0.54695	0.1874	M	0.70595	2.14	0.29663	N	0.843097	P;D	0.53462	0.949;0.96	P;P	0.54026	0.51;0.74	T	0.56171	-0.8023	10	0.33141	T	0.24	-17.1826	13.7977	0.63182	0.2556:0.7444:0.0:0.0	.	168;166	A5D8W1;A5D8W1-4	CG063_HUMAN;.	D	168;168;108	ENSP00000373948:H168D;ENSP00000321753:H168D;ENSP00000392365:H108D	ENSP00000321753:H168D	H	+	1	0	C7orf63	89735604	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.367000	0.34204	2.697000	0.92050	0.655000	0.94253	CAT	C7orf63	-	superfamily_ARM-type_fold	ENSG00000105792		0.333	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C7orf63	HGNC	protein_coding	OTTHUMT00000139891.4	153	0.00	0	C			89897668	89897668	+1	no_errors	ENST00000389297	ensembl	human	known	69_37n	missense	119	15.00	21	SNP	1.000	G
C7orf61	402573	genome.wustl.edu	37	7	100054573	100054573	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:100054573C>T	ENST00000332375.3	-	3	668	c.423G>A	c.(421-423)gtG>gtA	p.V141V		NM_001004323.1	NP_001004323.1	Q8IZ16	CG061_HUMAN	chromosome 7 open reading frame 61	141						nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|prostate(1)|skin(1)	4						ACTGCGTCCTCACTTGGGAGC	0.552																																						dbGAP											0													27.0	28.0	28.0					7																	100054573		2176	4273	6449	-	-	-	SO:0001819	synonymous_variant	0				CCDS47661.1	7q22.1	2013-10-11			ENSG00000185955	ENSG00000185955			22135	protein-coding gene	gene with protein product						12690205	Standard	NM_001004323		Approved	IMAGE:4839025	uc003uuz.1	Q8IZ16	OTTHUMG00000150234	ENST00000332375.3:c.423G>A	7.37:g.100054573C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.E183K	ENST00000332375.3	37	c.547	CCDS47661.1	7	.	.	.	.	.	.	.	.	.	.	C	4.699	0.129967	0.08981	.	.	ENSG00000185955	ENST00000418952	.	.	.	3.92	-0.254	0.12992	.	.	.	.	.	T	0.22085	0.0532	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25328	-1.0135	4	.	.	.	-14.8281	3.5455	0.07827	0.0:0.4326:0.1934:0.374	.	.	.	.	K	183	.	.	E	-	1	0	C7orf61	99892509	0.001000	0.12720	0.000000	0.03702	0.219000	0.24729	-0.151000	0.10175	-0.054000	0.13266	0.561000	0.74099	GAG	C7orf61	-	NULL	ENSG00000185955		0.552	C7orf61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C7orf61	HGNC	protein_coding	OTTHUMT00000316976.2	28	0.00	0	C	NM_001004323		100054573	100054573	-1	no_start_codon:pseudogene:no_stop_codon	ENST00000418952	ensembl	human	putative	69_37n	missense	22	31.25	10	SNP	0.000	T
C8B	732	genome.wustl.edu	37	1	57415299	57415299	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:57415299C>T	ENST00000371237.4	-	6	859	c.793G>A	c.(793-795)Gaa>Aaa	p.E265K	C8B_ENST00000543257.1_Missense_Mutation_p.E213K|C8B_ENST00000535057.1_Missense_Mutation_p.E203K	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	265	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)|vesicle (GO:0031982)				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						ATGCCAAGTTCAAATATTCCA	0.353																																						dbGAP											0													135.0	134.0	135.0					1																	57415299		2203	4300	6503	-	-	-	SO:0001583	missense	0			M16973	CCDS30730.1, CCDS60151.1, CCDS60152.1	1p32.2	2014-09-17			ENSG00000021852	ENSG00000021852		"""Complement system"""	1353	protein-coding gene	gene with protein product		120960					Standard	NM_000066		Approved		uc001cyp.3	P07358	OTTHUMG00000008305	ENST00000371237.4:c.793G>A	1.37:g.57415299C>T	ENSP00000360281:p.Glu265Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4K7	Missense_Mutation	SNP	pfam_MACPF,pfam_LDrepeatLR_classA_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin	p.E265K	ENST00000371237.4	37	c.793	CCDS30730.1	1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.581808	0.86748	.	.	ENSG00000021852	ENST00000371237;ENST00000543257;ENST00000535057	T;T;T	0.27720	1.81;1.82;1.65	5.19	5.19	0.71726	Membrane attack complex component/perforin (MACPF) domain (1);	0.352856	0.32563	N	0.005937	T	0.43077	0.1231	M	0.81942	2.565	0.52099	D	0.999944	D;D;P	0.55385	0.971;0.971;0.799	P;P;B	0.49752	0.621;0.621;0.323	T	0.41016	-0.9532	10	0.10111	T	0.7	-16.9001	15.4397	0.75173	0.0:0.8608:0.1391:0.0	.	213;203;265	F5H7G1;F5GY80;P07358	.;.;CO8B_HUMAN	K	265;213;203	ENSP00000360281:E265K;ENSP00000442548:E213K;ENSP00000440113:E203K	ENSP00000360281:E265K	E	-	1	0	C8B	57187887	1.000000	0.71417	0.607000	0.28956	0.169000	0.22640	4.401000	0.59716	2.581000	0.87130	0.591000	0.81541	GAA	C8B	-	NULL	ENSG00000021852		0.353	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C8B	HGNC	protein_coding	OTTHUMT00000022886.2	153	0.00	0	C			57415299	57415299	-1	no_errors	ENST00000371237	ensembl	human	known	69_37n	missense	108	27.52	41	SNP	1.000	T
C9orf131	138724	genome.wustl.edu	37	9	35044904	35044904	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:35044904G>C	ENST00000312292.5	+	2	2325	c.2278G>C	c.(2278-2280)Gag>Cag	p.E760Q	C9orf131_ENST00000421362.2_Missense_Mutation_p.E712Q|C9orf131_ENST00000354479.5_Missense_Mutation_p.E687Q|FLJ00273_ENST00000595331.1_5'Flank	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	760										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			GGTTAAGGCAGAGGCCCCACT	0.572																																						dbGAP											0													89.0	91.0	90.0					9																	35044904		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.2278G>C	9.37:g.35044904G>C	ENSP00000308279:p.Glu760Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLE6|E9PB26|Q86XC6|Q9UF74	Missense_Mutation	SNP	NULL	p.E760Q	ENST00000312292.5	37	c.2278	CCDS6572.2	9	.	.	.	.	.	.	.	.	.	.	G	9.587	1.125248	0.20959	.	.	ENSG00000174038	ENST00000421362;ENST00000354479;ENST00000312292;ENST00000435140	T;T;T	0.26957	1.72;1.7;1.74	4.48	1.5	0.22942	.	0.281922	0.25590	N	0.029626	T	0.25606	0.0623	M	0.68317	2.08	0.09310	N	1	P;P;P;P	0.42203	0.773;0.773;0.773;0.773	B;B;B;B	0.38428	0.273;0.273;0.273;0.273	T	0.11518	-1.0584	10	0.33940	T	0.23	-5.1064	12.5094	0.55999	0.0:0.4953:0.5047:0.0	.	235;760;687;712	B4DXT9;Q5VYM1;A6NLE6;E9PB26	.;CI131_HUMAN;.;.	Q	712;687;760;235	ENSP00000393683:E712Q;ENSP00000346472:E687Q;ENSP00000308279:E760Q	ENSP00000308279:E760Q	E	+	1	0	C9orf131	35034904	0.006000	0.16342	0.003000	0.11579	0.048000	0.14542	-0.017000	0.12590	0.208000	0.20626	0.655000	0.94253	GAG	C9orf131	-	NULL	ENSG00000174038		0.572	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C9orf131	HGNC	protein_coding	OTTHUMT00000052283.5	27	0.00	0	G	NM_203299		35044904	35044904	+1	no_errors	ENST00000312292	ensembl	human	known	69_37n	missense	55	17.91	12	SNP	0.003	C
C9orf3	84909	genome.wustl.edu	37	9	97563058	97563058	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:97563058C>G	ENST00000375315.2	+	4	1138	c.1138C>G	c.(1138-1140)Cac>Gac	p.H380D	C9orf3_ENST00000395357.2_5'UTR|C9orf3_ENST00000297979.5_Missense_Mutation_p.H380D|C9orf3_ENST00000277198.2_Missense_Mutation_p.H380D	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	380					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		TGTTTGCAGTCACATGGAATA	0.488																																						dbGAP											0													106.0	97.0	100.0					9																	97563058		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000375315.2:c.1138C>G	9.37:g.97563058C>G	ENSP00000364464:p.His380Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Missense_Mutation	SNP	pfam_Peptidase_M1_N,pfam_Peptidase_M1_C,superfamily_ARM-type_fold	p.H380D	ENST00000375315.2	37	c.1138	CCDS55328.1	9	.	.	.	.	.	.	.	.	.	.	C	17.70	3.453881	0.63290	.	.	ENSG00000148120	ENST00000277198;ENST00000297979;ENST00000375315;ENST00000424143;ENST00000428313	T;T;T;T;T	0.15834	2.58;2.39;2.8;2.45;2.46	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.42108	0.1188	M	0.63843	1.955	0.80722	D	1	D;D;D;D	0.89917	0.998;0.999;1.0;0.997	P;D;D;D	0.85130	0.893;0.974;0.997;0.911	T	0.13415	-1.0510	10	0.59425	D	0.04	-14.0159	19.1143	0.93331	0.0:1.0:0.0:0.0	.	380;380;380;380	Q8N6M6;Q8N6M6-4;Q8N6M6-2;Q8N6M6-3	AMPO_HUMAN;.;.;.	D	380;380;380;203;162	ENSP00000277198:H380D;ENSP00000297979:H380D;ENSP00000364464:H380D;ENSP00000402171:H203D;ENSP00000401854:H162D	ENSP00000277198:H380D	H	+	1	0	C9orf3	96602879	1.000000	0.71417	0.944000	0.38274	0.769000	0.43574	6.160000	0.71862	2.747000	0.94245	0.650000	0.86243	CAC	C9orf3	-	NULL	ENSG00000148120		0.488	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf3	HGNC	protein_coding		45	0.00	0	C	NM_032823		97563058	97563058	+1	no_errors	ENST00000375315	ensembl	human	known	69_37n	missense	44	31.25	20	SNP	1.000	G
CCDC180	100499483	genome.wustl.edu	37	9	100132233	100132233	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:100132233G>A	ENST00000357054.1	+	44	5121	c.4186G>A	c.(4186-4188)Gag>Aag	p.E1396K	CCDC180_ENST00000375202.2_Missense_Mutation_p.E1451K|CCDC180_ENST00000395220.1_3'UTR|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000529487.1_Missense_Mutation_p.E1451K			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	1396						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											GAGATTTGAGGAGCTGCTGCC	0.493																																						dbGAP											0													64.0	64.0	64.0					9																	100132233		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.4186G>A	9.37:g.100132233G>A	ENSP00000349562:p.Glu1396Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	NULL	p.E1451K	ENST00000357054.1	37	c.4351		9	.	.	.	.	.	.	.	.	.	.	G	33	5.233829	0.95207	.	.	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000529487	T;T;T	0.47869	0.83;0.83;0.83	5.58	5.58	0.84498	.	0.104464	0.64402	D	0.000004	T	0.67316	0.2880	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	0.991;1.0	P;D	0.83275	0.889;0.996	T	0.65236	-0.6217	10	0.41790	T	0.15	-25.4391	15.4569	0.75321	0.0:0.0:1.0:0.0	.	1590;1396	B7ZMG3;Q9P1Z9	.;CI174_HUMAN	K	1396;1451;1451	ENSP00000349562:E1396K;ENSP00000364348:E1451K;ENSP00000434727:E1451K	ENSP00000349562:E1396K	E	+	1	0	C9orf174	99172054	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.724000	0.61972	2.793000	0.96121	0.655000	0.94253	GAG	C9orf174	-	NULL	ENSG00000197816		0.493	CCDC180-201	KNOWN	basic	protein_coding	C9orf174	HGNC	protein_coding		90	0.00	0	G	NM_020893		100132233	100132233	+1	no_errors	ENST00000375202	ensembl	human	known	69_37n	missense	44	46.99	39	SNP	1.000	A
C9orf72	203228	genome.wustl.edu	37	9	27550679	27550679	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:27550679C>G	ENST00000380003.3	-	9	1181	c.1118G>C	c.(1117-1119)aGa>aCa	p.R373T	C9orf72_ENST00000488117.1_5'UTR	NM_001256054.1|NM_018325.3	NP_001242983.1|NP_060795.1	Q96LT7	CI072_HUMAN	chromosome 9 open reading frame 72	373					autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|extracellular space (GO:0005615)|lysosome (GO:0005764)|nucleus (GO:0005634)	Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1)	23		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		TAGAGTGTCTCTGTGTAAGAC	0.323																																						dbGAP											0													69.0	66.0	67.0					9																	27550679		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL832467	CCDS6522.1, CCDS6523.1	9p21.1	2014-09-17			ENSG00000147894	ENSG00000147894			28337	protein-coding gene	gene with protein product		614260				21944778, 24549040	Standard	NM_145005		Approved	MGC23980	uc003zqq.3	Q96LT7	OTTHUMG00000019716	ENST00000380003.3:c.1118G>C	9.37:g.27550679C>G	ENSP00000369339:p.Arg373Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5W0|D3DRK6|G8I0B6|Q6NUS9	Missense_Mutation	SNP	NULL	p.R373T	ENST00000380003.3	37	c.1118	CCDS6522.1	9	.	.	.	.	.	.	.	.	.	.	C	12.79	2.042946	0.36085	.	.	ENSG00000147894	ENST00000380003	T	0.41400	1.0	5.67	5.67	0.87782	.	0.093575	0.85682	D	0.000000	T	0.34513	0.0900	L	0.44542	1.39	0.80722	D	1	B	0.11235	0.004	B	0.13407	0.009	T	0.09596	-1.0667	9	.	.	.	.	11.9389	0.52888	0.0:0.9195:0.0:0.0805	.	373	Q96LT7	CI072_HUMAN	T	373	ENSP00000369339:R373T	.	R	-	2	0	C9orf72	27540679	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.627000	0.46469	2.649000	0.89929	0.655000	0.94253	AGA	C9orf72	-	NULL	ENSG00000147894		0.323	C9orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf72	HGNC	protein_coding	OTTHUMT00000051969.1	79	0.00	0	C	NM_018325		27550679	27550679	-1	no_errors	ENST00000380003	ensembl	human	known	69_37n	missense	73	16.09	14	SNP	1.000	G
C9orf85	138241	genome.wustl.edu	37	9	74526653	74526653	+	Start_Codon_SNP	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:74526653G>T	ENST00000377031.3	+	1	193	c.3G>T	c.(1-3)atG>atT	p.M1I	ABHD17B_ENST00000377041.2_5'Flank|C9orf85_ENST00000486911.2_Start_Codon_SNP_p.M1I|C9orf85_ENST00000334731.2_Start_Codon_SNP_p.M1I|ABHD17B_ENST00000333421.6_5'Flank			Q96MD7	CI085_HUMAN	chromosome 9 open reading frame 85	1										kidney(2)|large_intestine(1)|lung(4)	7						TTTCGGCGATGAGCTCCCAGA	0.498																																						dbGAP											0													169.0	172.0	171.0					9																	74526653		2203	4300	6503	-	-	-	SO:0001582	initiator_codon_variant	0			BC010179	CCDS6639.1	9q21.2	2012-03-16			ENSG00000155621	ENSG00000155621			28784	protein-coding gene	gene with protein product						12477932	Standard	NM_182505		Approved	MGC61599	uc004ain.3	Q96MD7	OTTHUMG00000020002	ENST00000377031.3:c.3G>T	9.37:g.74526653G>T	ENSP00000366230:p.Met1Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5W0N1|Q5W0N3|Q6PJW9|Q86U95	Missense_Mutation	SNP	pfam_DUF2039	p.M1I	ENST00000377031.3	37	c.3		9	.	.	.	.	.	.	.	.	.	.	G	17.95	3.514114	0.64522	.	.	ENSG00000155621	ENST00000334731;ENST00000377031;ENST00000356065	T	0.36157	1.27	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	T	0.34454	0.0898	.	.	.	0.80722	D	1	B	0.23377	0.084	B	0.18561	0.022	T	0.07908	-1.0748	9	0.87932	D	0	-22.5952	16.026	0.80545	0.0:0.0:1.0:0.0	.	1	Q96MD7-1	.	I	1	ENSP00000366230:M1I	ENSP00000334289:M1I	M	+	3	0	C9orf85	73716473	1.000000	0.71417	1.000000	0.80357	0.674000	0.39518	4.940000	0.63533	2.845000	0.97973	0.643000	0.83706	ATG	C9orf85	-	NULL	ENSG00000155621		0.498	C9orf85-003	KNOWN	basic	protein_coding	C9orf85	HGNC	protein_coding	OTTHUMT00000052628.2	55	0.00	0	G	NM_182505	Missense_Mutation	74526653	74526653	+1	no_errors	ENST00000377031	ensembl	human	known	69_37n	missense	53	22.06	15	SNP	1.000	T
C9orf64	84267	genome.wustl.edu	37	9	86571086	86571086	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:86571086G>A	ENST00000376344.3	-	1	546	c.330C>T	c.(328-330)ctC>ctT	p.L110L	C9orf64_ENST00000314700.1_5'UTR|C9orf64_ENST00000376340.2_5'UTR	NM_032307.3	NP_115683.3	Q5T6V5	CI064_HUMAN	chromosome 9 open reading frame 64	110										central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						AACCTTCGTCGAGGGCTCTGT	0.567																																						dbGAP											0													122.0	118.0	119.0					9																	86571086		2051	4190	6241	-	-	-	SO:0001819	synonymous_variant	0			AK090882	CCDS6666.2	9q22.1	2014-06-11			ENSG00000165118	ENSG00000165118			28144	protein-coding gene	gene with protein product		611342				24911101	Standard	NM_032307		Approved	MGC10999	uc004anb.3	Q5T6V5	OTTHUMG00000020111	ENST00000376344.3:c.330C>T	9.37:g.86571086G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPI6|Q8N2B1|Q9BT18	Silent	SNP	pfam_DUF2419	p.L110	ENST00000376344.3	37	c.330	CCDS6666.2	9																																																																																			C9orf64	-	pfam_DUF2419	ENSG00000165118		0.567	C9orf64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf64	HGNC	protein_coding	OTTHUMT00000052865.1	49	0.00	0	G	NM_032307		86571086	86571086	-1	no_errors	ENST00000376344	ensembl	human	known	69_37n	silent	60	16.67	12	SNP	0.992	A
C9orf84	158401	genome.wustl.edu	37	9	114454056	114454056	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:114454056G>C	ENST00000318737.4	-	25	4137	c.4009C>G	c.(4009-4011)Cta>Gta	p.L1337V	C9orf84_ENST00000374287.3_Missense_Mutation_p.L1337V|C9orf84_ENST00000394779.3_Missense_Mutation_p.L1298V|C9orf84_ENST00000394777.4_Missense_Mutation_p.L1263V	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	1337										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TCATCTGATAGACATTTTTGC	0.393																																						dbGAP											0													76.0	78.0	77.0					9																	114454056		2203	4299	6502	-	-	-	SO:0001583	missense	0			AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.4009C>G	9.37:g.114454056G>C	ENSP00000322108:p.Leu1337Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2V3|Q2M1H8|Q96M73	Missense_Mutation	SNP	superfamily_RuvA_2-like	p.L1337V	ENST00000318737.4	37	c.4009	CCDS6781.3	9	.	.	.	.	.	.	.	.	.	.	G	1.791	-0.479418	0.04383	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000394778;ENST00000374287;ENST00000318737	T;T;T;T	0.11821	2.74;2.81;2.76;2.76	5.29	-1.42	0.08913	.	1.633760	0.03880	N	0.277043	T	0.10337	0.0253	L	0.27053	0.805	0.09310	N	1	B;B;B	0.12013	0.005;0.002;0.005	B;B;B	0.10450	0.005;0.005;0.005	T	0.38628	-0.9652	10	0.52906	T	0.07	5.1416	5.8611	0.18747	0.2833:0.3488:0.3679:0.0	.	1263;1337;1298	A6PVK7;Q5VXU9;A2A2V3	.;CI084_HUMAN;.	V	1298;1263;951;1337;1337	ENSP00000378259:L1298V;ENSP00000378257:L1263V;ENSP00000363405:L1337V;ENSP00000322108:L1337V	ENSP00000322108:L1337V	L	-	1	2	C9orf84	113493877	0.000000	0.05858	0.000000	0.03702	0.134000	0.20937	-0.346000	0.07760	-0.111000	0.12001	0.467000	0.42956	CTA	C9orf84	-	NULL	ENSG00000165181		0.393	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C9orf84	HGNC	protein_coding	OTTHUMT00000053656.2	82	0.00	0	G	NM_173521		114454056	114454056	-1	no_errors	ENST00000318737	ensembl	human	known	69_37n	missense	63	41.12	44	SNP	0.000	C
C9orf84	158401	genome.wustl.edu	37	9	114470194	114470194	+	Silent	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:114470194C>A	ENST00000318737.4	-	17	2435	c.2307G>T	c.(2305-2307)ctG>ctT	p.L769L	C9orf84_ENST00000374287.3_Silent_p.L769L|C9orf84_ENST00000394779.3_Silent_p.L730L|C9orf84_ENST00000394777.4_Silent_p.L695L	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	769										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GAAGGACAGTCAGTGTTAAAC	0.308																																						dbGAP											0													87.0	101.0	96.0					9																	114470194		2202	4298	6500	-	-	-	SO:0001819	synonymous_variant	0			AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.2307G>T	9.37:g.114470194C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2V3|Q2M1H8|Q96M73	Silent	SNP	superfamily_RuvA_2-like	p.L769	ENST00000318737.4	37	c.2307	CCDS6781.3	9																																																																																			C9orf84	-	NULL	ENSG00000165181		0.308	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C9orf84	HGNC	protein_coding	OTTHUMT00000053656.2	79	0.00	0	C	NM_173521		114470194	114470194	-1	no_errors	ENST00000318737	ensembl	human	known	69_37n	silent	62	39.22	40	SNP	0.018	A
C9orf43	257169	genome.wustl.edu	37	9	116191543	116191543	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:116191543G>A	ENST00000288462.4	+	14	1709	c.1263G>A	c.(1261-1263)aaG>aaA	p.K421K	C9orf43_ENST00000374165.1_Silent_p.K421K	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	421								p.K421delK(1)		breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						GGCAAAAGAAGATCTCCTTTA	0.458																																						dbGAP											1	Deletion - In frame(1)	prostate(1)											106.0	108.0	107.0					9																	116191543		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC026884	CCDS6796.1	9q33.1	2012-03-15			ENSG00000157653	ENSG00000157653			23570	protein-coding gene	gene with protein product						12477932	Standard	NM_152786		Approved	MGC17358	uc004bhp.3	Q8TAL5	OTTHUMG00000020526	ENST00000288462.4:c.1263G>A	9.37:g.116191543G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.K421	ENST00000288462.4	37	c.1263	CCDS6796.1	9																																																																																			C9orf43	-	NULL	ENSG00000157653		0.458	C9orf43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C9orf43	HGNC	protein_coding	OTTHUMT00000053739.1	78	0.00	0	G	NM_152786		116191543	116191543	+1	no_errors	ENST00000288462	ensembl	human	known	69_37n	silent	83	20.19	21	SNP	0.000	A
C9orf50	375759	genome.wustl.edu	37	9	132375826	132375826	+	Missense_Mutation	SNP	C	C	G	rs547056212		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:132375826C>G	ENST00000372478.4	-	5	1132	c.931G>C	c.(931-933)Gag>Cag	p.E311Q	NTMT1_ENST00000372486.1_Intron	NM_199350.3	NP_955382.3	Q5SZB4	CI050_HUMAN	chromosome 9 open reading frame 50	311										central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1)	10		Ovarian(14;0.00556)				AACACCCGCTCGGACGCCACT	0.627																																						dbGAP											0													68.0	69.0	69.0					9																	132375826		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK093122	CCDS35159.1	9q34.2	2012-03-15			ENSG00000179058	ENSG00000179058			23677	protein-coding gene	gene with protein product							Standard	NM_199350		Approved	FLJ35803	uc004byc.4	Q5SZB4	OTTHUMG00000020786	ENST00000372478.4:c.931G>C	9.37:g.132375826C>G	ENSP00000361556:p.Glu311Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M1I2|Q8NA65	Missense_Mutation	SNP	NULL	p.E311Q	ENST00000372478.4	37	c.931	CCDS35159.1	9	.	.	.	.	.	.	.	.	.	.	C	12.62	1.992581	0.35131	.	.	ENSG00000179058	ENST00000372478	T	0.19806	2.12	3.27	0.396	0.16309	.	0.416632	0.17669	N	0.166023	T	0.24392	0.0591	L	0.32530	0.975	0.09310	N	1	D	0.67145	0.996	P	0.60949	0.881	T	0.06734	-1.0810	10	0.51188	T	0.08	-4.2519	5.5097	0.16874	0.0:0.627:0.0:0.373	.	311	Q5SZB4	CI050_HUMAN	Q	311	ENSP00000361556:E311Q	ENSP00000361556:E311Q	E	-	1	0	C9orf50	131415647	0.001000	0.12720	0.000000	0.03702	0.013000	0.08279	0.843000	0.27640	0.089000	0.17243	0.456000	0.33151	GAG	C9orf50	-	NULL	ENSG00000179058		0.627	C9orf50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf50	HGNC	protein_coding	OTTHUMT00000054593.1	49	0.00	0	C	NM_199350		132375826	132375826	-1	no_errors	ENST00000372478	ensembl	human	known	69_37n	missense	54	19.12	13	SNP	0.000	G
ARRDC1-AS1	85026	genome.wustl.edu	37	9	140510507	140510507	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:140510507C>T	ENST00000371417.3	-	3	685	c.145G>A	c.(145-147)Gac>Aac	p.D49N	EHMT1_ENST00000462484.1_5'Flank|EHMT1_ENST00000334856.6_5'Flank|EHMT1_ENST00000460843.1_5'Flank|C9orf37_ENST00000496793.1_5'UTR	NM_032937.4	NP_116326.2	Q9H2J1	CI037_HUMAN		49										breast(1)|large_intestine(2)	3	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		CTAGGTTTGTCAGTTACCTTA	0.532																																						dbGAP											0													76.0	76.0	76.0					9																	140510507		2199	4300	6499	-	-	-	SO:0001583	missense	0																														ENST00000371417.3:c.145G>A	9.37:g.140510507C>T	ENSP00000360471:p.Asp49Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RM5|Q5T368	Missense_Mutation	SNP	NULL	p.D49N	ENST00000371417.3	37	c.145	CCDS35189.1	9	.	.	.	.	.	.	.	.	.	.	C	14.06	2.422982	0.43020	.	.	ENSG00000203993	ENST00000371417	.	.	.	1.69	-1.36	0.09085	.	.	.	.	.	T	0.15349	0.0370	N	0.14661	0.345	0.09310	N	1	P	0.44195	0.828	B	0.40375	0.327	T	0.12889	-1.0530	8	0.48119	T	0.1	.	4.8028	0.13305	0.0:0.4013:0.0:0.5987	.	49	Q9H2J1	CI037_HUMAN	N	49	.	ENSP00000360471:D49N	D	-	1	0	C9orf37	139630328	0.000000	0.05858	0.000000	0.03702	0.681000	0.39784	0.139000	0.16036	-0.422000	0.07405	0.306000	0.20318	GAC	C9orf37	-	NULL	ENSG00000203993		0.532	C9orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf37	HGNC	protein_coding	OTTHUMT00000055328.1	66	0.00	0	C			140510507	140510507	-1	no_errors	ENST00000371417	ensembl	human	known	69_37n	missense	49	39.51	32	SNP	0.000	T
CA12	771	genome.wustl.edu	37	15	63673855	63673855	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:63673855G>A	ENST00000178638.3	-	1	505	c.65C>T	c.(64-66)tCc>tTc	p.S22F	CA12_ENST00000344366.3_Missense_Mutation_p.S22F|CA12_ENST00000422263.2_Missense_Mutation_p.S22F	NM_001218.3	NP_001209.1	O43570	CAH12_HUMAN	carbonic anhydrase XII	22					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16					Benzthiazide(DB00562)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Zonisamide(DB00909)	GGCCGGGCTGGAAGGCTGTTC	0.647																																						dbGAP											0													26.0	28.0	27.0					15																	63673855		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF051882	CCDS10185.1, CCDS10186.1	15q22	2004-01-19			ENSG00000074410	ENSG00000074410		"""Carbonic anhydrases"""	1371	protein-coding gene	gene with protein product		603263				9636197	Standard	NM_001218		Approved	HsT18816	uc002amc.3	O43570	OTTHUMG00000132881	ENST00000178638.3:c.65C>T	15.37:g.63673855G>A	ENSP00000178638:p.Ser22Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RE24|Q53YE5|Q9BWG2	Missense_Mutation	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.S22F	ENST00000178638.3	37	c.65	CCDS10185.1	15	.	.	.	.	.	.	.	.	.	.	G	23.8	4.461308	0.84317	.	.	ENSG00000074410	ENST00000178638;ENST00000344366;ENST00000422263	T;T;T	0.78924	-0.3;-0.31;-1.22	4.49	-1.54	0.08584	.	0.708846	0.13331	N	0.395929	T	0.76285	0.3966	L	0.34521	1.04	0.09310	N	1	P;D;D	0.57571	0.856;0.98;0.966	B;P;P	0.53809	0.352;0.735;0.707	T	0.72357	-0.4318	10	0.56958	D	0.05	.	16.2069	0.82134	0.0:0.7141:0.2859:0.0	.	22;22;22	B3KUB4;O43570-2;O43570	.;.;CAH12_HUMAN	F	22	ENSP00000178638:S22F;ENSP00000343088:S22F;ENSP00000403028:S22F	ENSP00000178638:S22F	S	-	2	0	CA12	61460908	0.007000	0.16637	0.002000	0.10522	0.918000	0.54935	0.071000	0.14594	-0.355000	0.08199	0.555000	0.69702	TCC	CA12	-	NULL	ENSG00000074410		0.647	CA12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CA12	HGNC	protein_coding	OTTHUMT00000256370.1	22	0.00	0	G	NM_001218		63673855	63673855	-1	no_errors	ENST00000178638	ensembl	human	known	69_37n	missense	14	26.32	5	SNP	0.000	A
CABIN1	23523	genome.wustl.edu	37	22	24458432	24458432	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:24458432C>T	ENST00000398319.2	+	13	2025	c.1640C>T	c.(1639-1641)tCc>tTc	p.S547F	CABIN1_ENST00000263119.5_Missense_Mutation_p.S547F|CABIN1_ENST00000405822.2_Missense_Mutation_p.S497F	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	547					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ATGTCTCTCTCCTGCATGGAA	0.537																																						dbGAP											0													98.0	82.0	87.0					22																	24458432		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.1640C>T	22.37:g.24458432C>T	ENSP00000381364:p.Ser547Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S547F	ENST00000398319.2	37	c.1640	CCDS13823.1	22	.	.	.	.	.	.	.	.	.	.	C	20.6	4.010459	0.75046	.	.	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319	T;T;T	0.71579	-0.58;-0.58;-0.58	5.22	5.22	0.72569	.	0.177942	0.50627	D	0.000111	T	0.74951	0.3784	N	0.25647	0.755	0.80722	D	1	D;D	0.65815	0.995;0.991	D;P	0.63381	0.914;0.823	T	0.76735	-0.2850	10	0.52906	T	0.07	.	18.2177	0.89892	0.0:1.0:0.0:0.0	.	497;547	G5E9F3;Q9Y6J0	.;CABIN_HUMAN	F	547;497;547	ENSP00000263119:S547F;ENSP00000384694:S497F;ENSP00000381364:S547F	ENSP00000263119:S547F	S	+	2	0	CABIN1	22788432	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.438000	0.52871	2.619000	0.88677	0.650000	0.86243	TCC	CABIN1	-	NULL	ENSG00000099991		0.537	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CABIN1	HGNC	protein_coding	OTTHUMT00000320161.2	61	0.00	0	C	NM_012295		24458432	24458432	+1	no_errors	ENST00000263119	ensembl	human	known	69_37n	missense	88	29.03	36	SNP	1.000	T
CABIN1	23523	genome.wustl.edu	37	22	24563177	24563177	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:24563177C>T	ENST00000398319.2	+	32	5963	c.5578C>T	c.(5578-5580)Ctg>Ttg	p.L1860L	CABIN1_ENST00000263119.5_Silent_p.L1860L|CABIN1_ENST00000405822.2_Silent_p.L1781L|CABIN1_ENST00000337989.7_Silent_p.L285L	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1860					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CAAGACACTTCTGTTGGATGC	0.627																																						dbGAP											0													44.0	44.0	44.0					22																	24563177		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.5578C>T	22.37:g.24563177C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	G5E9F3|Q6PHY0|Q9Y460	Silent	SNP	pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L1860	ENST00000398319.2	37	c.5578	CCDS13823.1	22																																																																																			CABIN1	-	NULL	ENSG00000099991		0.627	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CABIN1	HGNC	protein_coding	OTTHUMT00000320161.2	27	0.00	0	C	NM_012295		24563177	24563177	+1	no_errors	ENST00000263119	ensembl	human	known	69_37n	silent	29	53.23	33	SNP	1.000	T
CACNA1D	776	genome.wustl.edu	37	3	53809980	53809980	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:53809980G>A	ENST00000350061.5	+	35	4781	c.4270G>A	c.(4270-4272)Gag>Aag	p.E1424K	CACNA1D_ENST00000288139.4_Missense_Mutation_p.E1444K|CACNA1D_ENST00000540742.1_Missense_Mutation_p.E316K|CACNA1D_ENST00000422281.2_Missense_Mutation_p.E1409K	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1424	Dihydropyridine binding. {ECO:0000250}.				adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CTGTGACCCTGAGTCAGATTA	0.488																																						dbGAP											0													165.0	176.0	172.0					3																	53809980		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.4270G>A	3.37:g.53809980G>A	ENSP00000288133:p.Glu1424Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu	p.E1444K	ENST00000350061.5	37	c.4330	CCDS46848.1	3	.	.	.	.	.	.	.	.	.	.	G	19.94	3.919100	0.73098	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478;ENST00000540742	D;D;D;D;D	0.97066	-3.89;-3.92;-3.91;-3.91;-4.23	5.58	5.58	0.84498	Ion transport (1);	0.157058	0.42821	D	0.000660	D	0.97445	0.9164	L	0.35644	1.08	0.80722	D	1	P;B;B;B;D	0.89917	0.788;0.01;0.283;0.018;1.0	P;B;B;B;D	0.80764	0.897;0.037;0.419;0.134;0.994	D	0.97551	1.0092	10	0.44086	T	0.13	.	19.5724	0.95427	0.0:0.0:1.0:0.0	.	1409;316;1117;1424;1444	B0FYA3;F5H313;Q59GD8;Q01668;Q01668-2	.;.;.;CAC1D_HUMAN;.	K	1424;1444;1409;1117;316	ENSP00000288133:E1424K;ENSP00000288139:E1444K;ENSP00000409174:E1409K;ENSP00000418014:E1117K;ENSP00000438229:E316K	ENSP00000288139:E1444K	E	+	1	0	CACNA1D	53785020	1.000000	0.71417	0.939000	0.37840	0.842000	0.47809	9.869000	0.99810	2.624000	0.88883	0.650000	0.86243	GAG	CACNA1D	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel	ENSG00000157388		0.488	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1D	HGNC	protein_coding	OTTHUMT00000350557.1	127	0.00	0	G	NM_000720		53809980	53809980	+1	no_errors	ENST00000288139	ensembl	human	known	69_37n	missense	115	28.12	45	SNP	1.000	A
CACNA1E	777	genome.wustl.edu	37	1	181701704	181701704	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:181701704C>T	ENST00000367573.2	+	20	2482	c.2482C>T	c.(2482-2484)Cgg>Tgg	p.R828W	CACNA1E_ENST00000367570.1_Missense_Mutation_p.R828W|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R760W|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R435W|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R779W|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R809W|CACNA1E_ENST00000526775.1_Missense_Mutation_p.R809W	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	828					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CAGCCTTTATCGGCGACCCAG	0.677																																						dbGAP											0													26.0	33.0	31.0					1																	181701704		1751	3731	5482	-	-	-	SO:0001583	missense	0			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.2482C>T	1.37:g.181701704C>T	ENSP00000356545:p.Arg828Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_R_a1su	p.R828W	ENST00000367573.2	37	c.2482	CCDS55664.1	1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.292069	0.59976	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96587	-3.98;-3.97;-3.99;-3.98;-4.06;-3.98;-3.99	4.06	3.11	0.35812	.	1.705140	0.03248	N	0.181398	D	0.95046	0.8396	N	0.08118	0	0.40782	D	0.98318	D;D;D	0.76494	0.999;0.998;0.999	P;P;P	0.57620	0.764;0.824;0.764	D	0.87961	0.2730	10	0.54805	T	0.06	.	13.1424	0.59442	0.1753:0.8247:0.0:0.0	.	809;828;828	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	W	828;809;779;760;435;809;828	ENSP00000356542:R828W;ENSP00000434814:R809W;ENSP00000350183:R779W;ENSP00000351101:R760W;ENSP00000356539:R435W;ENSP00000353222:R809W;ENSP00000356545:R828W	ENSP00000350183:R779W	R	+	1	2	CACNA1E	179968327	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	1.221000	0.32503	1.226000	0.43582	0.561000	0.74099	CGG	CACNA1E	-	NULL	ENSG00000198216		0.677	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	HGNC	protein_coding	OTTHUMT00000090793.2	58	0.00	0	C	NM_000721		181701704	181701704	+1	no_errors	ENST00000367573	ensembl	human	known	69_37n	missense	67	31.63	31	SNP	0.990	T
CACNA1E	777	genome.wustl.edu	37	1	181741292	181741292	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:181741292G>T	ENST00000367573.2	+	37	5064	c.5064G>T	c.(5062-5064)caG>caT	p.Q1688H	CACNA1E_ENST00000367570.1_Missense_Mutation_p.Q1688H|CACNA1E_ENST00000358338.5_Missense_Mutation_p.Q1620H|CACNA1E_ENST00000367567.4_Missense_Mutation_p.Q1295H|CACNA1E_ENST00000357570.5_Missense_Mutation_p.Q1639H|CACNA1E_ENST00000360108.3_Missense_Mutation_p.Q1669H|CACNA1E_ENST00000526775.1_Missense_Mutation_p.Q1669H|RNA5SP70_ENST00000517168.1_RNA	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1688					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CATCAGGGCAGAACGAGAACG	0.557																																						dbGAP											0													183.0	185.0	184.0					1																	181741292		2190	4284	6474	-	-	-	SO:0001583	missense	0			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.5064G>T	1.37:g.181741292G>T	ENSP00000356545:p.Gln1688His	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_R_a1su	p.Q1688H	ENST00000367573.2	37	c.5064	CCDS55664.1	1	.	.	.	.	.	.	.	.	.	.	G	11.34	1.608696	0.28623	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96365	-3.93;-3.93;-3.92;-3.93;-3.99;-3.92;-3.92	5.5	4.58	0.56647	Ion transport (1);	0.369239	0.31772	N	0.007085	D	0.92234	0.7537	L	0.39245	1.2	0.40851	D	0.983753	B;B;B	0.12630	0.001;0.006;0.004	B;B;B	0.17433	0.001;0.018;0.004	D	0.87807	0.2629	10	0.44086	T	0.13	.	6.6826	0.23129	0.1463:0.1572:0.6965:0.0	.	1669;1688;1688	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	H	1688;1669;1639;1620;1295;1669;1688	ENSP00000356542:Q1688H;ENSP00000434814:Q1669H;ENSP00000350183:Q1639H;ENSP00000351101:Q1620H;ENSP00000356539:Q1295H;ENSP00000353222:Q1669H;ENSP00000356545:Q1688H	ENSP00000350183:Q1639H	Q	+	3	2	CACNA1E	180007915	1.000000	0.71417	0.897000	0.35233	0.941000	0.58515	2.716000	0.47219	2.588000	0.87417	0.643000	0.83706	CAG	CACNA1E	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel	ENSG00000198216		0.557	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	HGNC	protein_coding	OTTHUMT00000090793.2	73	0.00	0	G	NM_000721		181741292	181741292	+1	no_errors	ENST00000367573	ensembl	human	known	69_37n	missense	90	26.83	33	SNP	0.998	T
CACNA1E	777	genome.wustl.edu	37	1	181767956	181767956	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:181767956G>C	ENST00000367573.2	+	48	6928	c.6928G>C	c.(6928-6930)Gat>Cat	p.D2310H	CACNA1E_ENST00000367570.1_Missense_Mutation_p.D2267H|CACNA1E_ENST00000358338.5_Missense_Mutation_p.D2199H|CACNA1E_ENST00000367567.4_Missense_Mutation_p.D1874H|CACNA1E_ENST00000357570.5_Missense_Mutation_p.D2261H|CACNA1E_ENST00000360108.3_Missense_Mutation_p.D2291H|CACNA1E_ENST00000526775.1_Missense_Mutation_p.D2248H	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2310					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CACGGAAGAAGATGACAAATG	0.612																																						dbGAP											0													21.0	24.0	23.0					1																	181767956		2027	4173	6200	-	-	-	SO:0001583	missense	0			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.6928G>C	1.37:g.181767956G>C	ENSP00000356545:p.Asp2310His	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_R_a1su	p.D2310H	ENST00000367573.2	37	c.6928	CCDS55664.1	1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.279525	0.80692	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.99143	-5.3;-5.27;-4.78;-5.26;-5.48;-4.8;-4.78	5.62	5.62	0.85841	.	0.094893	0.45361	D	0.000367	D	0.98548	0.9515	N	0.19112	0.55	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.912	D	0.99944	1.1450	10	0.87932	D	0	.	19.3229	0.94250	0.0:0.0:1.0:0.0	.	2248;2267	Q15878-2;Q15878-3	.;.	H	2267;2248;2261;2199;1874;2291;2310	ENSP00000356542:D2267H;ENSP00000434814:D2248H;ENSP00000350183:D2261H;ENSP00000351101:D2199H;ENSP00000356539:D1874H;ENSP00000353222:D2291H;ENSP00000356545:D2310H	ENSP00000350183:D2261H	D	+	1	0	CACNA1E	180034579	1.000000	0.71417	0.993000	0.49108	0.749000	0.42624	8.927000	0.92846	2.655000	0.90218	0.558000	0.71614	GAT	CACNA1E	-	NULL	ENSG00000198216		0.612	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	HGNC	protein_coding	OTTHUMT00000090793.2	27	0.00	0	G	NM_000721		181767956	181767956	+1	no_errors	ENST00000367573	ensembl	human	known	69_37n	missense	34	32.00	16	SNP	1.000	C
CACNA1F	778	genome.wustl.edu	37	X	49081268	49081268	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:49081268G>T	ENST00000376265.2	-	14	1926	c.1865C>A	c.(1864-1866)tCa>tAa	p.S622*	CACNA1F_ENST00000480889.1_5'Flank|CACNA1F_ENST00000323022.5_Nonsense_Mutation_p.S611*|CACNA1F_ENST00000376251.1_Nonsense_Mutation_p.S557*	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	622					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	TCGGAGCACTGAGATGCCCAA	0.572																																						dbGAP											0													60.0	41.0	47.0					X																	49081268		2200	4295	6495	-	-	-	SO:0001587	stop_gained	0			AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.1865C>A	X.37:g.49081268G>T	ENSP00000365441:p.Ser622*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Nonsense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.S622*	ENST00000376265.2	37	c.1865	CCDS35253.1	X	.	.	.	.	.	.	.	.	.	.	.	25.0	4.594602	0.86953	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	.	.	.	3.39	3.39	0.38822	.	0.289920	0.33895	N	0.004445	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.2338	0.59958	0.0:0.0:1.0:0.0	.	.	.	.	X	557;611;622	.	ENSP00000321618:S611X	S	-	2	0	CACNA1F	48968212	1.000000	0.71417	0.997000	0.53966	0.038000	0.13279	9.745000	0.98856	1.298000	0.44778	0.273000	0.19326	TCA	CACNA1F	-	pfam_Ion_trans_dom	ENSG00000102001		0.572	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1F	HGNC	protein_coding	OTTHUMT00000358157.1	52	0.00	0	G	NM_005183		49081268	49081268	-1	no_errors	ENST00000376265	ensembl	human	known	69_37n	nonsense	52	17.46	11	SNP	1.000	T
CACNA1S	779	genome.wustl.edu	37	1	201046054	201046054	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:201046054G>A	ENST00000362061.3	-	12	2047	c.1821C>T	c.(1819-1821)gtC>gtT	p.V607V	CACNA1S_ENST00000367338.3_Silent_p.V607V	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	607					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	ctacctggaagacgctgatga	0.547																																						dbGAP											0													171.0	147.0	155.0					1																	201046054		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.1821C>T	1.37:g.201046054G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A4IF51|B1ALM2|Q12896|Q13934	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu	p.V607	ENST00000362061.3	37	c.1821	CCDS1407.1	1																																																																																			CACNA1S	-	pfam_Ion_trans_dom,prints_VDCCAlpha1	ENSG00000081248		0.547	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1S	HGNC	protein_coding	OTTHUMT00000087049.1	95	0.00	0	G	NM_000069		201046054	201046054	-1	no_errors	ENST00000362061	ensembl	human	known	69_37n	silent	94	25.40	32	SNP	1.000	A
CACNA1S	779	genome.wustl.edu	37	1	201046145	201046145	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:201046145C>G	ENST00000362061.3	-	12	1956	c.1730G>C	c.(1729-1731)gGc>gCc	p.G577A	CACNA1S_ENST00000367338.3_Missense_Mutation_p.G577A	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	577					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GAGCTGCATGCCCAGGAGGGC	0.567																																						dbGAP											0													158.0	139.0	145.0					1																	201046145		2203	4300	6503	-	-	-	SO:0001583	missense	0			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.1730G>C	1.37:g.201046145C>G	ENSP00000355192:p.Gly577Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu	p.G577A	ENST00000362061.3	37	c.1730	CCDS1407.1	1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.606319	0.87157	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.97598	-4.45;-4.45	4.45	4.45	0.53987	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98732	0.9574	M	0.92026	3.265	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99828	1.1052	10	0.87932	D	0	.	17.4435	0.87572	0.0:1.0:0.0:0.0	.	577	Q13698	CAC1S_HUMAN	A	577	ENSP00000355192:G577A;ENSP00000356307:G577A	ENSP00000355192:G577A	G	-	2	0	CACNA1S	199312768	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.790000	0.85794	2.189000	0.69895	0.549000	0.68633	GGC	CACNA1S	-	pfam_Ion_trans_dom	ENSG00000081248		0.567	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1S	HGNC	protein_coding	OTTHUMT00000087049.1	122	0.00	0	C	NM_000069		201046145	201046145	-1	no_errors	ENST00000362061	ensembl	human	known	69_37n	missense	166	17.82	36	SNP	1.000	G
CACNA2D3	55799	genome.wustl.edu	37	3	54354556	54354556	+	Missense_Mutation	SNP	A	A	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:54354556A>T	ENST00000474759.1	+	3	340	c.292A>T	c.(292-294)Atg>Ttg	p.M98L	CACNA2D3_ENST00000490478.1_Missense_Mutation_p.M4L|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.M98L|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.M98L	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	98						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	CATGGAAGAGATGTTTCACAA	0.453																																						dbGAP											0													72.0	70.0	71.0					3																	54354556		1939	4120	6059	-	-	-	SO:0001583	missense	0			AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"""Calcium channel subunits"""	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.292A>T	3.37:g.54354556A>T	ENSP00000419101:p.Met98Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPL6|Q9NY16|Q9NY18	Missense_Mutation	SNP	pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.M98L	ENST00000474759.1	37	c.292	CCDS54598.1	3	.	.	.	.	.	.	.	.	.	.	A	17.21	3.330670	0.60853	.	.	ENSG00000157445	ENST00000415676;ENST00000474759;ENST00000288197;ENST00000490478;ENST00000492460	T;T;T;T;T	0.36157	3.11;3.11;3.11;3.29;1.27	5.93	5.93	0.95920	.	0.248321	0.43416	D	0.000567	T	0.37156	0.0993	M	0.76727	2.345	0.34842	D	0.740758	P	0.36753	0.568	B	0.34093	0.175	T	0.50329	-0.8841	10	0.12430	T	0.62	.	14.9654	0.71188	1.0:0.0:0.0:0.0	.	98	Q8IZS8	CA2D3_HUMAN	L	98;98;98;4;4	ENSP00000389506:M98L;ENSP00000419101:M98L;ENSP00000288197:M98L;ENSP00000417279:M4L;ENSP00000418028:M4L	ENSP00000288197:M98L	M	+	1	0	CACNA2D3	54329596	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.818000	0.69236	2.281000	0.76405	0.533000	0.62120	ATG	CACNA2D3	-	NULL	ENSG00000157445		0.453	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA2D3	HGNC	protein_coding	OTTHUMT00000351402.1	77	0.00	0	A			54354556	54354556	+1	no_errors	ENST00000288197	ensembl	human	known	69_37n	missense	92	16.36	18	SNP	1.000	T
CACNB4	785	genome.wustl.edu	37	2	152711875	152711875	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:152711875C>T	ENST00000539935.1	-	11	950	c.883G>A	c.(883-885)Gaa>Aaa	p.E295K	CACNB4_ENST00000427385.1_Missense_Mutation_p.E277K|CACNB4_ENST00000397327.2_Missense_Mutation_p.E248K|CACNB4_ENST00000534999.1_Missense_Mutation_p.E261K|CACNB4_ENST00000201943.5_Missense_Mutation_p.E295K|CACNB4_ENST00000360283.6_Missense_Mutation_p.E262K	NM_000726.3|NM_001145798.1	NP_000717.2|NP_001139270.1	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	295					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|cAMP metabolic process (GO:0046058)|cellular calcium ion homeostasis (GO:0006874)|detection of light stimulus involved in visual perception (GO:0050908)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|membrane depolarization (GO:0051899)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|neuronal action potential propagation (GO:0019227)|Peyer's patch development (GO:0048541)|regulation of voltage-gated calcium channel activity (GO:1901385)|spleen development (GO:0048536)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)|transport (GO:0006810)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CTTTCAATTTCACTTTGTACT	0.328																																						dbGAP											0													77.0	72.0	74.0					2																	152711875		1825	4088	5913	-	-	-	SO:0001583	missense	0			AF038852	CCDS46426.1, CCDS46427.1, CCDS46428.1, CCDS54409.1	2q22-q23	2009-09-04			ENSG00000182389	ENSG00000182389		"""Calcium channel subunits"""	1404	protein-coding gene	gene with protein product		601949				9628818	Standard	NM_000726		Approved	EJM4	uc002tya.3	O00305	OTTHUMG00000155091	ENST00000539935.1:c.883G>A	2.37:g.152711875C>T	ENSP00000438949:p.Glu295Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A7BJ74|A8K1Y4|B4DG40|O60515|Q6B000|Q96L40	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_SH3_domain,prints_VDCC_L_bsu	p.E296K	ENST00000539935.1	37	c.886	CCDS46426.1	2	.	.	.	.	.	.	.	.	.	.	C	35	5.577350	0.96565	.	.	ENSG00000182389	ENST00000539935;ENST00000360283;ENST00000543269;ENST00000439467;ENST00000534999;ENST00000397327;ENST00000427385;ENST00000201943;ENST00000339254	D;D;D;D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71	5.89	5.89	0.94794	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (1);	0.000000	0.85682	D	0.000000	D	0.93510	0.7929	M	0.91196	3.185	0.80722	D	1	D;D;D;D	0.89917	0.998;0.999;1.0;0.998	D;D;D;D	0.87578	0.993;0.995;0.998;0.991	D	0.94055	0.7321	10	0.87932	D	0	-22.5652	20.2576	0.98430	0.0:1.0:0.0:0.0	.	295;295;277;261	A7BJ74;O00305;B4DG40;O00305-2	.;CACB4_HUMAN;.;.	K	295;262;252;290;261;248;277;295;296	ENSP00000438949:E295K;ENSP00000353425:E262K;ENSP00000390161:E290K;ENSP00000443893:E261K;ENSP00000380490:E248K;ENSP00000410978:E277K;ENSP00000201943:E295K	ENSP00000201943:E295K	E	-	1	0	CACNB4	152420121	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.783000	0.95769	0.655000	0.94253	GAA	CACNB4	-	pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,prints_VDCC_L_bsu	ENSG00000182389		0.328	CACNB4-001	KNOWN	basic|CCDS	protein_coding	CACNB4	HGNC	protein_coding	OTTHUMT00000338385.4	78	0.00	0	C	NM_000726.3		152711875	152711875	-1	no_errors	ENST00000339254	ensembl	human	known	69_37n	missense	95	18.64	22	SNP	1.000	T
CAD	790	genome.wustl.edu	37	2	27455994	27455994	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:27455994G>A	ENST00000403525.1	+	18	2932	c.2788G>A	c.(2788-2790)Gag>Aag	p.E930K	CAD_ENST00000264705.4_Missense_Mutation_p.E993K			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTACTTTGATGAGATCTCTTT	0.488																																						dbGAP											0													209.0	167.0	181.0					2																	27455994		2203	4300	6503	-	-	-	SO:0001583	missense	0			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.2788G>A	2.37:g.27455994G>A	ENSP00000384510:p.Glu930Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE_1,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf_euk,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf_euk	p.E993K	ENST00000403525.1	37	c.2977		2	.	.	.	.	.	.	.	.	.	.	G	36	5.612964	0.96637	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.97553	-4.43;-4.43	5.44	5.44	0.79542	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Carbamoyl-phosphate synthase, large subunit, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98723	0.9571	M	0.90814	3.15	0.80722	D	1	D;D	0.89917	0.984;1.0	D;D	0.87578	0.917;0.998	D	0.99376	1.0921	10	0.72032	D	0.01	1.3166	18.0043	0.89205	0.0:0.0:1.0:0.0	.	930;993	F8VPD4;P27708	.;PYR1_HUMAN	K	993;930	ENSP00000264705:E993K;ENSP00000384510:E930K	ENSP00000264705:E993K	E	+	1	0	CAD	27309498	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.813000	0.91963	2.837000	0.97791	0.655000	0.94253	GAG	CAD	-	pfam_CarbamoylP_synth_lsu_N,superfamily_PreATP-grasp_fold,tigrfam_CarbamoylP_synth_lsu	ENSG00000084774		0.488	CAD-002	NOVEL	basic|exp_conf	protein_coding	CAD	HGNC	protein_coding	OTTHUMT00000324970.1	174	0.00	0	G			27455994	27455994	+1	no_errors	ENST00000264705	ensembl	human	known	69_37n	missense	168	14.14	28	SNP	1.000	A
CAD	790	genome.wustl.edu	37	2	27456324	27456324	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:27456324G>A	ENST00000403525.1	+	19	3091	c.2947G>A	c.(2947-2949)Gag>Aag	p.E983K	CAD_ENST00000264705.4_Missense_Mutation_p.E1046K			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGACTCGGCTGAGAACCGTTT	0.612																																						dbGAP											0													51.0	50.0	51.0					2																	27456324		2203	4300	6503	-	-	-	SO:0001583	missense	0			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.2947G>A	2.37:g.27456324G>A	ENSP00000384510:p.Glu983Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE_1,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf_euk,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf_euk	p.E1046K	ENST00000403525.1	37	c.3136		2	.	.	.	.	.	.	.	.	.	.	G	36	5.670253	0.96754	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.98249	-4.82;-4.82	6.07	6.07	0.98685	PreATP-grasp-like fold (1);	0.000000	0.85682	D	0.000000	D	0.99536	0.9834	H	0.99516	4.605	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.994	D	0.97869	1.0285	10	0.87932	D	0	-0.2565	19.2077	0.93739	0.0:0.0:1.0:0.0	.	983;1046	F8VPD4;P27708	.;PYR1_HUMAN	K	1046;983	ENSP00000264705:E1046K;ENSP00000384510:E983K	ENSP00000264705:E1046K	E	+	1	0	CAD	27309828	1.000000	0.71417	0.997000	0.53966	0.933000	0.57130	9.102000	0.94226	2.884000	0.98904	0.655000	0.94253	GAG	CAD	-	superfamily_PreATP-grasp_fold,tigrfam_CarbamoylP_synth_lsu	ENSG00000084774		0.612	CAD-002	NOVEL	basic|exp_conf	protein_coding	CAD	HGNC	protein_coding	OTTHUMT00000324970.1	37	0.00	0	G			27456324	27456324	+1	no_errors	ENST00000264705	ensembl	human	known	69_37n	missense	27	27.03	10	SNP	1.000	A
CAD	790	genome.wustl.edu	37	2	27464811	27464811	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:27464811G>C	ENST00000403525.1	+	38	5871	c.5727G>C	c.(5725-5727)gtG>gtC	p.V1909V	CAD_ENST00000264705.4_Silent_p.V1972V			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTATGAAGTGAGCACACGGA	0.592																																						dbGAP											0													62.0	53.0	56.0					2																	27464811		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.5727G>C	2.37:g.27464811G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	pfam_Asp/Orn_carbamoyltranf_P-bd,superfamily_Metal-dep_hydrolase_composite,superfamily_Asp/Orn_carbamoylTrfase	p.E277Q	ENST00000403525.1	37	c.829		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.150|8.150	0.787203|0.787203	0.16189|0.16189	.|.	.|.	ENSG00000084774|ENSG00000084774	ENST00000456311|ENST00000428460	.|.	.|.	.|.	5.03|5.03	4.16|4.16	0.48862|0.48862	.|.	.|.	.|.	.|.	.|.	T|.	0.56337|.	0.1978|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.52873|.	-0.8517|.	4|.	.|.	.|.	.|.	0.6947|0.6947	7.017|7.017	0.24892|0.24892	0.2668:0.0:0.7332:0.0|0.2668:0.0:0.7332:0.0	.|.	.|.	.|.	.|.	Q|S	277|8	.|.	.|.	E|X	+|+	1|2	0|2	CAD|CAD	27318315|27318315	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	0.710000|0.710000	0.25748|0.25748	1.132000|1.132000	0.42129|0.42129	-0.339000|-0.339000	0.08088|0.08088	GAG|TGA	CAD	-	pfam_Asp/Orn_carbamoyltranf_P-bd,superfamily_Asp/Orn_carbamoylTrfase	ENSG00000084774		0.592	CAD-002	NOVEL	basic|exp_conf	protein_coding	CAD	HGNC	protein_coding	OTTHUMT00000324970.1	12	0.00	0	G			27464811	27464811	+1	no_start_codon:pseudogene:no_stop_codon	ENST00000456311	ensembl	human	novel	69_37n	missense	11	35.29	6	SNP	1.000	C
CACNB4	785	genome.wustl.edu	37	2	152727057	152727057	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:152727057C>G	ENST00000539935.1	-	8	754	c.687G>C	c.(685-687)ctG>ctC	p.L229L	CACNB4_ENST00000427385.1_Silent_p.L211L|CACNB4_ENST00000397327.2_Silent_p.L182L|CACNB4_ENST00000534999.1_Silent_p.L195L|CACNB4_ENST00000201943.5_Silent_p.L229L|CACNB4_ENST00000360283.6_Silent_p.L196L	NM_000726.3|NM_001145798.1	NP_000717.2|NP_001139270.1	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	229					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|cAMP metabolic process (GO:0046058)|cellular calcium ion homeostasis (GO:0006874)|detection of light stimulus involved in visual perception (GO:0050908)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|membrane depolarization (GO:0051899)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|neuronal action potential propagation (GO:0019227)|Peyer's patch development (GO:0048541)|regulation of voltage-gated calcium channel activity (GO:1901385)|spleen development (GO:0048536)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)|transport (GO:0006810)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CGTAACCTTTCAGTGACGGCC	0.498																																						dbGAP											0													91.0	90.0	90.0					2																	152727057		2083	4211	6294	-	-	-	SO:0001819	synonymous_variant	0			AF038852	CCDS46426.1, CCDS46427.1, CCDS46428.1, CCDS54409.1	2q22-q23	2009-09-04			ENSG00000182389	ENSG00000182389		"""Calcium channel subunits"""	1404	protein-coding gene	gene with protein product		601949				9628818	Standard	NM_000726		Approved	EJM4	uc002tya.3	O00305	OTTHUMG00000155091	ENST00000539935.1:c.687G>C	2.37:g.152727057C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A7BJ74|A8K1Y4|B4DG40|O60515|Q6B000|Q96L40	Silent	SNP	pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_SH3_domain,prints_VDCC_L_bsu	p.L230	ENST00000539935.1	37	c.690	CCDS46426.1	2																																																																																			CACNB4	-	pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,prints_VDCC_L_bsu	ENSG00000182389		0.498	CACNB4-001	KNOWN	basic|CCDS	protein_coding	CACNB4	HGNC	protein_coding	OTTHUMT00000338385.4	64	0.00	0	C	NM_000726.3		152727057	152727057	-1	no_errors	ENST00000339254	ensembl	human	known	69_37n	silent	77	17.20	16	SNP	1.000	G
CADPS	8618	genome.wustl.edu	37	3	62463956	62463956	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:62463956C>G	ENST00000383710.4	-	23	3658	c.3309G>C	c.(3307-3309)atG>atC	p.M1103I	CADPS_ENST00000357948.3_Missense_Mutation_p.M1024I|CADPS_ENST00000283269.9_Missense_Mutation_p.M1064I	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1103	Interaction with DRD2.|MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		AAGATTCGATCATGTCACTTG	0.507																																						dbGAP											0													233.0	206.0	215.0					3																	62463956		2203	4300	6503	-	-	-	SO:0001583	missense	0			U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.3309G>C	3.37:g.62463956C>G	ENSP00000373215:p.Met1103Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	pfam_Ca-dep_secretion_activator,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.M1103I	ENST00000383710.4	37	c.3309	CCDS46858.1	3	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	34|34|34	5.407914|5.407914|5.407914	0.96051|0.96051|0.96051	.|.|.	.|.|.	ENSG00000163618|ENSG00000163618|ENSG00000163618	ENST00000466621|ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269|ENST00000473635	.|T;T;T|.	.|0.30981|.	.|1.51;1.51;1.51|.	6.06|6.06|6.06	6.06|6.06|6.06	0.98353|0.98353|0.98353	.|Munc13 homology 1 (1);|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	D|D|.	0.82628|0.82628|.	0.5078|0.5078|.	M|M|M	0.81942|0.81942|0.81942	2.565|2.565|2.565	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D;P;P;D|.	.|0.58620|.	.|0.97;0.831;0.936;0.983|.	.|P;P;P;P|.	.|0.61201|.	.|0.729;0.758;0.885;0.885|.	T|T|.	0.81491|0.81491|.	-0.0909|-0.0909|.	5|10|.	.|0.72032|.	.|D|.	.|0.01|.	.|.|.	20.6208|20.6208|20.6208	0.99490|0.99490|0.99490	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|1024;1064;1103;1103|.	.|Q9ULU8-2;Q9ULU8-3;Q9ULU8;Q9ULU8-4|.	.|.;.;CAPS1_HUMAN;.|.	H|I|S	15|1103;1103;1024;1064|90	.|ENSP00000373215:M1103I;ENSP00000350632:M1024I;ENSP00000283269:M1064I|.	.|ENSP00000283269:M1064I|.	D|M|X	-|-|-	1|3|2	0|0|2	CADPS|CADPS|CADPS	62438996|62438996|62438996	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.996000|0.996000|0.996000	0.88848|0.88848|0.88848	7.818000|7.818000|7.818000	0.86416|0.86416|0.86416	2.882000|2.882000|2.882000	0.98803|0.98803|0.98803	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAT|ATG|TGA	CADPS	-	NULL	ENSG00000163618		0.507	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	CADPS	HGNC	protein_coding	OTTHUMT00000351951.5	153	0.00	0	C	NM_003716, NM_183393, NM_183394		62463956	62463956	-1	no_errors	ENST00000383710	ensembl	human	known	69_37n	missense	180	16.28	35	SNP	1.000	G
CADPS2	93664	genome.wustl.edu	37	7	122526107	122526107	+	Silent	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:122526107G>T	ENST00000449022.2	-	1	304	c.285C>A	c.(283-285)atC>atA	p.I95I	CADPS2_ENST00000313070.7_Silent_p.I95I|CADPS2_ENST00000412584.2_Silent_p.I95I|CADPS2_ENST00000334010.7_Silent_p.I95I	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	95					cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)	p.I95I(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						AGGGGTACGCGATGCACCTCA	0.667																																						dbGAP											1	Substitution - coding silent(1)	lung(1)											23.0	31.0	29.0					7																	122526107		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0				CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"""Pleckstrin homology (PH) domain containing"""	16018	protein-coding gene	gene with protein product		609978	"""Ca++-dependent activator protein for secretion 2"""				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.285C>A	7.37:g.122526107G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Silent	SNP	pfam_Ca-dep_secretion_activator,pfam_Pleckstrin_homology,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.I95	ENST00000449022.2	37	c.285	CCDS55158.1	7																																																																																			CADPS2	-	NULL	ENSG00000081803		0.667	CADPS2-001	KNOWN	basic|CCDS	protein_coding	CADPS2	HGNC	protein_coding	OTTHUMT00000347414.2	22	0.00	0	G	NM_017954		122526107	122526107	-1	no_errors	ENST00000449022	ensembl	human	known	69_37n	silent	24	29.41	10	SNP	1.000	T
CALD1	800	genome.wustl.edu	37	7	134617752	134617752	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:134617752G>A	ENST00000361675.2	+	5	461	c.232G>A	c.(232-234)Gag>Aag	p.E78K	CALD1_ENST00000393118.2_Missense_Mutation_p.E72K|CALD1_ENST00000424922.1_Missense_Mutation_p.E72K|CALD1_ENST00000417172.1_Missense_Mutation_p.E78K|CALD1_ENST00000543443.1_Missense_Mutation_p.E83K|CALD1_ENST00000495522.1_Missense_Mutation_p.E72K|CALD1_ENST00000422748.1_Missense_Mutation_p.E78K|CALD1_ENST00000361388.2_Missense_Mutation_p.E78K|CALD1_ENST00000361901.2_Missense_Mutation_p.E78K			Q05682	CALD1_HUMAN	caldesmon 1	78	Myosin and calmodulin-binding. {ECO:0000250}.				cellular component movement (GO:0006928)|muscle contraction (GO:0006936)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|calmodulin binding (GO:0005516)|tropomyosin binding (GO:0005523)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						GCCTGACGAGGAGGCCAAGAC	0.532																																						dbGAP											0													51.0	43.0	46.0					7																	134617752		2203	4300	6503	-	-	-	SO:0001583	missense	0			M64110	CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2	7q33	2007-04-23			ENSG00000122786	ENSG00000122786			1441	protein-coding gene	gene with protein product		114213				1885618	Standard	NM_004342		Approved	CDM, H-CAD, L-CAD	uc003vrz.3	Q05682	OTTHUMG00000155407	ENST00000361675.2:c.232G>A	7.37:g.134617752G>A	ENSP00000354826:p.Glu78Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Missense_Mutation	SNP	pfam_Caldesmon_LSP,prints_Caldesmon	p.E78K	ENST00000361675.2	37	c.232	CCDS5835.1	7	.	.	.	.	.	.	.	.	.	.	G	21.0	4.074496	0.76415	.	.	ENSG00000122786	ENST00000417172;ENST00000436461;ENST00000361388;ENST00000422748;ENST00000361675;ENST00000361901;ENST00000445569;ENST00000393118;ENST00000424922;ENST00000495522;ENST00000543443	T;T;T;T;T;T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68	5.38	5.38	0.77491	.	0.000000	0.52532	D	0.000070	T	0.58119	0.2100	M	0.71581	2.175	0.40580	D	0.98138	P;P;B;P;B;B;P;P	0.51449	0.59;0.503;0.241;0.59;0.241;0.447;0.945;0.503	B;B;B;B;B;B;P;B	0.50860	0.275;0.175;0.109;0.187;0.109;0.109;0.652;0.175	T	0.56950	-0.7894	10	0.25751	T	0.34	-11.6365	17.3065	0.87196	0.0:0.0:1.0:0.0	.	83;78;72;72;78;78;78;78	F5H1Z9;A8K0X1;Q05682-5;Q05682-3;Q05682-4;Q05682-2;Q05682;Q9NYG1	.;.;.;.;.;.;CALD1_HUMAN;.	K	78;78;78;78;78;78;92;72;72;72;83	ENSP00000398826:E78K;ENSP00000411476:E78K;ENSP00000355000:E78K;ENSP00000395710:E78K;ENSP00000354826:E78K;ENSP00000354513:E78K;ENSP00000390926:E92K;ENSP00000376826:E72K;ENSP00000393621:E72K;ENSP00000419673:E72K;ENSP00000445641:E83K	ENSP00000355000:E78K	E	+	1	0	CALD1	134268292	1.000000	0.71417	0.993000	0.49108	0.977000	0.68977	6.242000	0.72376	2.497000	0.84241	0.557000	0.71058	GAG	CALD1	-	pfam_Caldesmon_LSP	ENSG00000122786		0.532	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	CALD1	HGNC	protein_coding	OTTHUMT00000339939.1	30	0.00	0	G	NM_033138		134617752	134617752	+1	no_errors	ENST00000361388	ensembl	human	known	69_37n	missense	27	18.18	6	SNP	0.995	A
CAMK2A	815	genome.wustl.edu	37	5	149633106	149633106	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:149633106C>T	ENST00000348628.6	-	7	1080	c.415G>A	c.(415-417)Gag>Aag	p.E139K	CAMK2A_ENST00000398376.3_Missense_Mutation_p.E139K	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha	139	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|kinase activity (GO:0016301)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AACAGATTCTCAGGCTTGTCA	0.597																																						dbGAP											0													49.0	55.0	53.0					5																	149633106		2111	4272	6383	-	-	-	SO:0001583	missense	0			AB023185	CCDS43386.1, CCDS43387.1	5q32	2013-09-20	2008-10-30		ENSG00000070808	ENSG00000070808	2.7.11.17		1460	protein-coding gene	gene with protein product	"""CaM-kinase II alpha chain"", ""calcium/calmodulin-dependent protein kinase II alpha-B subunit"", ""CaM kinase II alpha subunit"", ""CaMK-II alpha subunit"", ""calcium/calmodulin-dependent protein kinase type II alpha chain"""	114078	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II alpha"""	CAMKA		10231032, 3475713	Standard	NM_015981		Approved	KIAA0968, CaMKIINalpha	uc003lrt.2	Q9UQM7	OTTHUMG00000134281	ENST00000348628.6:c.415G>A	5.37:g.149633106C>T	ENSP00000261793:p.Glu139Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UL21|Q9Y2H4|Q9Y352	Missense_Mutation	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.E139K	ENST00000348628.6	37	c.415	CCDS43386.1	5	.	.	.	.	.	.	.	.	.	.	C	35	5.504905	0.96371	.	.	ENSG00000070808	ENST00000348628;ENST00000398376;ENST00000515758	T;T;T	0.28895	1.59;1.59;1.72	5.19	5.19	0.71726	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.63920	0.2552	M	0.89785	3.06	0.80722	D	1	D;D;D	0.71674	0.997;0.998;0.998	D;D;D	0.69307	0.938;0.954;0.963	T	0.72478	-0.4281	10	0.87932	D	0	.	18.6587	0.91463	0.0:1.0:0.0:0.0	.	139;139;139	Q9UQM7-2;Q9UQM7;A8K161	.;KCC2A_HUMAN;.	K	139;139;11	ENSP00000261793:E139K;ENSP00000381412:E139K;ENSP00000427580:E11K	ENSP00000261793:E139K	E	-	1	0	CAMK2A	149613299	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	7.700000	0.84556	2.578000	0.87016	0.491000	0.48974	GAG	CAMK2A	-	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	ENSG00000070808		0.597	CAMK2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMK2A	HGNC	protein_coding	OTTHUMT00000258869.2	46	0.00	0	C	NM_015981		149633106	149633106	-1	no_errors	ENST00000398376	ensembl	human	known	69_37n	missense	49	20.97	13	SNP	1.000	T
CAMK2B	816	genome.wustl.edu	37	7	44286722	44286722	+	Silent	SNP	G	G	C	rs200895249	byFrequency	TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:44286722G>C	ENST00000395749.2	-	6	487	c.411C>G	c.(409-411)ctC>ctG	p.L137L	CAMK2B_ENST00000358707.3_Silent_p.L137L|CAMK2B_ENST00000395747.2_Silent_p.L137L|CAMK2B_ENST00000502837.2_Silent_p.L8L|CAMK2B_ENST00000440254.2_Silent_p.L137L|CAMK2B_ENST00000353625.4_Silent_p.L137L|CAMK2B_ENST00000350811.3_Silent_p.L137L|CAMK2B_ENST00000258682.6_Silent_p.L137L|CAMK2B_ENST00000457475.1_Silent_p.L137L|CAMK2B_ENST00000346990.4_Silent_p.L137L|CAMK2B_ENST00000347193.4_Silent_p.L137L	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	137	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of meiosis involved in egg activation (GO:0060466)|calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|inhibitory G-protein coupled receptor phosphorylation (GO:0002030)|interferon-gamma-mediated signaling pathway (GO:0060333)|neuromuscular process controlling balance (GO:0050885)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neuron projection development (GO:0010976)|positive regulation of synapse maturation (GO:0090129)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of calcium ion transport (GO:0051924)|regulation of dendritic spine development (GO:0060998)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of skeletal muscle adaptation (GO:0014733)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, cholinergic (GO:0032222)|response to cadmium ion (GO:0046686)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						GACTCACCTTGAGGTCTCTGT	0.567																																						dbGAP											0													125.0	97.0	106.0					7																	44286722		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U50358	CCDS5483.1, CCDS5484.1, CCDS5485.1, CCDS5486.1, CCDS5487.1, CCDS5488.1, CCDS5489.1, CCDS43573.1	7p14.3-p14.1	2008-10-30	2008-10-30		ENSG00000058404	ENSG00000058404			1461	protein-coding gene	gene with protein product	"""CaM-kinase II beta chain"", ""calcium/calmodulin-dependent protein kinase type II beta chain"", ""CaM kinase II beta subunit"", ""proline rich calmodulin-dependent protein kinase"""	607707	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II beta"""	CAMKB			Standard	NM_172079		Approved	CAM2, CAMK2	uc003tkq.2	Q13554	OTTHUMG00000023491	ENST00000395749.2:c.411C>G	7.37:g.44286722G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D2K0|A4D2K1|A4D2K2|A4D2K3|A4D2K4|A4D2K5|A4D2K6|O95437|O95438|O95599|Q9UGH7|Q9UGH8|Q9UGH9|Q9UNX0|Q9UNX7|Q9UP00|Q9Y5N4|Q9Y6F4	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_cat_dom	p.S97*	ENST00000395749.2	37	c.290	CCDS5483.1	7																																																																																			CAMK2B	-	pfscan_Prot_kinase_cat_dom	ENSG00000058404		0.567	CAMK2B-002	KNOWN	basic|CCDS	protein_coding	CAMK2B	HGNC	protein_coding	OTTHUMT00000251138.2	62	0.00	0	G	NM_172084		44286722	44286722	-1	no_errors	ENST00000523845	ensembl	human	known	69_37n	nonsense	43	17.31	9	SNP	1.000	C
CAMKK2	10645	genome.wustl.edu	37	12	121686436	121686436	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:121686436G>C	ENST00000324774.5	-	14	2253	c.1425C>G	c.(1423-1425)gtC>gtG	p.V475V	CAMKK2_ENST00000545538.1_Silent_p.V262V|CAMKK2_ENST00000446440.2_Intron|CAMKK2_ENST00000337174.3_Silent_p.V475V|CAMKK2_ENST00000392473.2_Silent_p.V475V|CAMKK2_ENST00000412367.2_Silent_p.V475V|CAMKK2_ENST00000538733.1_Intron|CAMKK2_ENST00000347034.2_Intron|CAMKK2_ENST00000402834.4_Silent_p.V475V|CAMKK2_ENST00000404169.3_Silent_p.V475V|CAMKK2_ENST00000392474.2_Silent_p.V475V	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	475	Autoinhibitory domain. {ECO:0000250}.|Calmodulin-binding. {ECO:0000250}.				calcium-mediated signaling (GO:0019722)|MAPK cascade (GO:0000165)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GAATGTGTTTGACTGAGTTCT	0.637																																						dbGAP											0													210.0	158.0	176.0					12																	121686436		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF101264	CCDS9216.1, CCDS9217.1, CCDS9218.1, CCDS9219.1, CCDS44999.1, CCDS53837.1, CCDS58283.1	12q24.2	2002-08-13				ENSG00000110931			1470	protein-coding gene	gene with protein product		615002				9662074	Standard	NM_172226		Approved	CAMKK, KIAA0787, CAMKKB, MGC15254	uc001tzu.3	Q96RR4		ENST00000324774.5:c.1425C>G	12.37:g.121686436G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7Q7|O94883|Q8IUG2|Q8IUG3|Q8N3I4|Q8WY03|Q8WY04|Q8WY05|Q8WY06|Q96RP1|Q96RP2|Q96RR3|Q9BWE9|Q9UER3|Q9UES2|Q9Y5N2	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.V475	ENST00000324774.5	37	c.1425	CCDS9216.1	12																																																																																			CAMKK2	-	superfamily_Kinase-like_dom	ENSG00000110931		0.637	CAMKK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMKK2	HGNC	protein_coding	OTTHUMT00000402563.1	60	0.00	0	G	NM_172226		121686436	121686436	-1	no_errors	ENST00000324774	ensembl	human	known	69_37n	silent	49	33.78	25	SNP	1.000	C
CAMKK2	10645	genome.wustl.edu	37	12	121693406	121693406	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:121693406G>A	ENST00000324774.5	-	9	1682	c.854C>T	c.(853-855)tCt>tTt	p.S285F	CAMKK2_ENST00000545538.1_Missense_Mutation_p.S72F|CAMKK2_ENST00000446440.2_Missense_Mutation_p.S285F|CAMKK2_ENST00000337174.3_Missense_Mutation_p.S285F|CAMKK2_ENST00000392473.2_Missense_Mutation_p.S285F|CAMKK2_ENST00000535524.1_Intron|CAMKK2_ENST00000412367.2_Missense_Mutation_p.S285F|CAMKK2_ENST00000538733.1_Missense_Mutation_p.S285F|CAMKK2_ENST00000347034.2_Missense_Mutation_p.S285F|CAMKK2_ENST00000402834.4_Missense_Mutation_p.S285F|CAMKK2_ENST00000404169.3_Missense_Mutation_p.S285F|CAMKK2_ENST00000392474.2_Missense_Mutation_p.S285F	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	285	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				calcium-mediated signaling (GO:0019722)|MAPK cascade (GO:0000165)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CTGGTCTTCAGAGAGTGGTTT	0.567																																						dbGAP											0													76.0	71.0	72.0					12																	121693406		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF101264	CCDS9216.1, CCDS9217.1, CCDS9218.1, CCDS9219.1, CCDS44999.1, CCDS53837.1, CCDS58283.1	12q24.2	2002-08-13				ENSG00000110931			1470	protein-coding gene	gene with protein product		615002				9662074	Standard	NM_172226		Approved	CAMKK, KIAA0787, CAMKKB, MGC15254	uc001tzu.3	Q96RR4		ENST00000324774.5:c.854C>T	12.37:g.121693406G>A	ENSP00000312741:p.Ser285Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7Q7|O94883|Q8IUG2|Q8IUG3|Q8N3I4|Q8WY03|Q8WY04|Q8WY05|Q8WY06|Q96RP1|Q96RP2|Q96RR3|Q9BWE9|Q9UER3|Q9UES2|Q9Y5N2	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.S285F	ENST00000324774.5	37	c.854	CCDS9216.1	12	.	.	.	.	.	.	.	.	.	.	G	18.60	3.659963	0.67586	.	.	ENSG00000110931	ENST00000392474;ENST00000347034;ENST00000538733;ENST00000337174;ENST00000324774;ENST00000545538;ENST00000412367;ENST00000404169;ENST00000360452;ENST00000446440;ENST00000392473	T;T;T;T;T;T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53;0.83;0.53;0.53;0.53;0.53	5.11	5.11	0.69529	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.288745	0.37483	N	0.002080	T	0.70988	0.3287	M	0.82056	2.57	0.43890	D	0.996517	P;P;P;D;P;P;P;P	0.67145	0.898;0.831;0.898;0.996;0.808;0.898;0.916;0.898	P;P;P;P;P;P;P;P	0.62813	0.789;0.789;0.789;0.907;0.712;0.789;0.866;0.789	T	0.75880	-0.3161	10	0.87932	D	0	-3.9337	13.9976	0.64411	0.0:0.1638:0.8362:0.0	.	285;285;285;72;285;285;285;285	Q96RR4-6;Q96RR4-2;Q96RR4-7;F5GZ00;Q96RR4-5;Q96RR4-4;Q96RR4;Q96RR4-3	.;.;.;.;.;.;KKCC2_HUMAN;.	F	285;285;285;285;285;72;285;285;268;285;285	ENSP00000376266:S285F;ENSP00000321230:S285F;ENSP00000445944:S285F;ENSP00000336634:S285F;ENSP00000312741:S285F;ENSP00000441352:S72F;ENSP00000388368:S285F;ENSP00000384600:S285F;ENSP00000388273:S285F;ENSP00000376265:S285F	ENSP00000312741:S285F	S	-	2	0	CAMKK2	120177789	1.000000	0.71417	0.985000	0.45067	0.751000	0.42716	3.575000	0.53870	2.368000	0.80403	0.655000	0.94253	TCT	CAMKK2	-	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	ENSG00000110931		0.567	CAMKK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMKK2	HGNC	protein_coding	OTTHUMT00000402563.1	75	0.00	0	G	NM_172226		121693406	121693406	-1	no_errors	ENST00000324774	ensembl	human	known	69_37n	missense	59	14.49	10	SNP	0.987	A
CAMKMT	79823	genome.wustl.edu	37	2	44599931	44599931	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:44599931C>T	ENST00000378494.3	+	2	259	c.215C>T	c.(214-216)tCa>tTa	p.S72L	CAMKMT_ENST00000402247.1_Missense_Mutation_p.S72L|CAMKMT_ENST00000407131.1_Missense_Mutation_p.S72L|CAMKMT_ENST00000403853.3_Missense_Mutation_p.S72L|CAMKMT_ENST00000477623.1_Intron	NM_024766.4	NP_079042.1	Q7Z624	CMKMT_HUMAN	calmodulin-lysine N-methyltransferase	72						Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	calmodulin-lysine N-methyltransferase activity (GO:0018025)			breast(2)|large_intestine(3)|lung(5)	10						AATCTGTTTTCAGTAACAGAA	0.383																																						dbGAP											0													133.0	139.0	137.0					2																	44599931		2203	4300	6503	-	-	-	SO:0001583	missense	0				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.215C>T	2.37:g.44599931C>T	ENSP00000367755:p.Ser72Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4ZG15|Q53SS6|Q8N6P5|Q9H5G8	Nonsense_Mutation	SNP	NULL	p.Q40*	ENST00000378494.3	37	c.118	CCDS1820.1	2	.	.	.	.	.	.	.	.	.	.	C	24.3	4.518330	0.85495	.	.	ENSG00000143919	ENST00000402247;ENST00000454848;ENST00000407131;ENST00000378494;ENST00000403853	.	.	.	5.75	5.75	0.90469	.	0.172377	0.27636	N	0.018498	T	0.73401	0.3582	M	0.64997	1.995	0.38736	D	0.953788	P;D	0.63046	0.877;0.992	B;P	0.56865	0.335;0.808	T	0.70048	-0.4979	9	0.25751	T	0.34	-2.9249	19.9598	0.97242	0.0:1.0:0.0:0.0	.	72;72	Q7Z624;Q7Z624-2	CMKMT_HUMAN;.	L	72	.	ENSP00000367755:S72L	S	+	2	0	CAMKMT	44453435	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.797000	0.55514	2.716000	0.92895	0.655000	0.94253	TCA	CAMKMT	-	NULL	ENSG00000143919		0.383	CAMKMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMKMT	HGNC	protein_coding	OTTHUMT00000250678.2	137	0.00	0	C	NM_024766		44599931	44599931	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000454433	ensembl	human	known	69_37n	nonsense	106	18.46	24	SNP	1.000	T
CAMSAP1	157922	genome.wustl.edu	37	9	138712932	138712932	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:138712932G>A	ENST00000389532.4	-	11	3639	c.3575C>T	c.(3574-3576)tCg>tTg	p.S1192L	CAMSAP1_ENST00000409386.3_Missense_Mutation_p.S1203L|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.S914L|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1192					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CATCTGCTCCGAAAGAATGTT	0.527																																						dbGAP											0													132.0	126.0	128.0					9																	138712932		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.3575C>T	9.37:g.138712932G>A	ENSP00000374183:p.Ser1192Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain	p.S1203L	ENST00000389532.4	37	c.3608	CCDS35176.2	9	.	.	.	.	.	.	.	.	.	.	G	12.85	2.060860	0.36373	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.16897	2.31;2.31;2.31	5.18	1.32	0.21799	.	1.077590	0.06953	N	0.814938	T	0.24586	0.0596	M	0.78637	2.42	0.09310	N	1	B;B	0.17465	0.022;0.021	B;B	0.11329	0.004;0.006	T	0.35500	-0.9786	10	0.87932	D	0	-3.4478	9.7049	0.40209	0.2808:0.0:0.7192:0.0	.	1192;1203	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	L	1192;914;1203	ENSP00000374183:S1192L;ENSP00000312463:S914L;ENSP00000386420:S1203L	ENSP00000312463:S914L	S	-	2	0	CAMSAP1	137852753	0.026000	0.19158	0.000000	0.03702	0.001000	0.01503	1.818000	0.39012	0.043000	0.15746	-0.126000	0.14955	TCG	CAMSAP1	-	NULL	ENSG00000130559		0.527	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMSAP1	HGNC	protein_coding	OTTHUMT00000055024.2	31	0.00	0	G	XM_351857		138712932	138712932	-1	no_errors	ENST00000409386	ensembl	human	known	69_37n	missense	53	11.67	7	SNP	0.003	A
CAMSAP1	157922	genome.wustl.edu	37	9	138714090	138714090	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:138714090G>T	ENST00000389532.4	-	11	2481	c.2417C>A	c.(2416-2418)tCc>tAc	p.S806Y	CAMSAP1_ENST00000409386.3_Missense_Mutation_p.S817Y|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.S528Y|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	806					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		ACTCGCCATGGAGACACTGCT	0.582																																						dbGAP											0													96.0	106.0	102.0					9																	138714090		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.2417C>A	9.37:g.138714090G>T	ENSP00000374183:p.Ser806Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain	p.S817Y	ENST00000389532.4	37	c.2450	CCDS35176.2	9	.	.	.	.	.	.	.	.	.	.	G	13.89	2.373045	0.42105	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.71341	-0.56;-0.56;-0.56	5.14	4.25	0.50352	.	0.101785	0.64402	D	0.000002	T	0.81380	0.4810	M	0.78916	2.43	0.45403	D	0.998389	D;D	0.61697	0.99;0.99	P;P	0.59643	0.642;0.861	D	0.84270	0.0488	10	0.87932	D	0	-8.0876	13.8919	0.63744	0.0741:0.0:0.9259:0.0	.	806;817	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	Y	806;528;817	ENSP00000374183:S806Y;ENSP00000312463:S528Y;ENSP00000386420:S817Y	ENSP00000312463:S528Y	S	-	2	0	CAMSAP1	137853911	1.000000	0.71417	0.017000	0.16124	0.012000	0.07955	5.648000	0.67930	1.304000	0.44892	0.655000	0.94253	TCC	CAMSAP1	-	NULL	ENSG00000130559		0.582	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMSAP1	HGNC	protein_coding	OTTHUMT00000055024.2	38	0.00	0	G	XM_351857		138714090	138714090	-1	no_errors	ENST00000409386	ensembl	human	known	69_37n	missense	65	13.33	10	SNP	0.791	T
CAMSAP1	157922	genome.wustl.edu	37	9	138714305	138714305	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:138714305G>A	ENST00000389532.4	-	11	2266	c.2202C>T	c.(2200-2202)ctC>ctT	p.L734L	CAMSAP1_ENST00000409386.3_Silent_p.L745L|CAMSAP1_ENST00000312405.6_Silent_p.L456L|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	734					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		AATCCTGCCTGAGGAGAGTCC	0.527																																						dbGAP											0													84.0	77.0	79.0					9																	138714305		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.2202C>T	9.37:g.138714305G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Silent	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain	p.L745	ENST00000389532.4	37	c.2235	CCDS35176.2	9																																																																																			CAMSAP1	-	NULL	ENSG00000130559		0.527	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMSAP1	HGNC	protein_coding	OTTHUMT00000055024.2	44	0.00	0	G	XM_351857		138714305	138714305	-1	no_errors	ENST00000409386	ensembl	human	known	69_37n	silent	66	14.29	11	SNP	0.053	A
CAMSAP1	157922	genome.wustl.edu	37	9	138714819	138714819	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:138714819G>A	ENST00000389532.4	-	11	1752	c.1688C>T	c.(1687-1689)tCa>tTa	p.S563L	CAMSAP1_ENST00000409386.3_Missense_Mutation_p.S574L|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.S285L|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	563					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GGCCCGGGGTGAGGCCCTGGG	0.557																																						dbGAP											0													127.0	141.0	136.0					9																	138714819		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.1688C>T	9.37:g.138714819G>A	ENSP00000374183:p.Ser563Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain	p.S574L	ENST00000389532.4	37	c.1721	CCDS35176.2	9	.	.	.	.	.	.	.	.	.	.	G	11.45	1.643182	0.29246	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.16597	2.36;2.33;2.36	3.66	3.66	0.41972	.	0.502367	0.20409	N	0.092894	T	0.17323	0.0416	L	0.39898	1.24	0.09310	N	0.999995	B;B	0.30068	0.267;0.228	B;B	0.30401	0.115;0.083	T	0.19877	-1.0292	10	0.87932	D	0	-34.5326	15.3703	0.74557	0.0:0.0:1.0:0.0	.	563;574	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	L	563;285;574	ENSP00000374183:S563L;ENSP00000312463:S285L;ENSP00000386420:S574L	ENSP00000312463:S285L	S	-	2	0	CAMSAP1	137854640	0.869000	0.29996	0.018000	0.16275	0.038000	0.13279	1.928000	0.40104	1.575000	0.49775	0.655000	0.94253	TCA	CAMSAP1	-	NULL	ENSG00000130559		0.557	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMSAP1	HGNC	protein_coding	OTTHUMT00000055024.2	70	0.00	0	G	XM_351857		138714819	138714819	-1	no_errors	ENST00000409386	ensembl	human	known	69_37n	missense	98	20.97	26	SNP	0.117	A
CAMSAP1	157922	genome.wustl.edu	37	9	138754417	138754417	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:138754417G>A	ENST00000389532.4	-	5	768	c.704C>T	c.(703-705)tCa>tTa	p.S235L	CAMSAP1_ENST00000409386.3_Missense_Mutation_p.S246L|CAMSAP1_ENST00000312405.6_Intron	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	235	CH.				cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GAAGTAGGGTGACTGCCTAGC	0.468																																						dbGAP											0													114.0	90.0	97.0					9																	138754417		692	1591	2283	-	-	-	SO:0001583	missense	0			AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.704C>T	9.37:g.138754417G>A	ENSP00000374183:p.Ser235Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain	p.S246L	ENST00000389532.4	37	c.737	CCDS35176.2	9	.	.	.	.	.	.	.	.	.	.	G	5.098	0.203793	0.09704	.	.	ENSG00000130559	ENST00000389532;ENST00000409386	D;T	0.94758	-3.51;2.65	5.0	2.89	0.33648	Calmodulin-regulated spectrin-associated protein, CH domain (1);Calponin homology domain (1);	0.302034	0.26140	U	0.026103	T	0.73783	0.3631	N	0.00677	-1.265	0.22226	N	0.999276	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.68153	-0.5484	10	0.02654	T	1	-4.5415	2.3418	0.04262	0.4394:0.2914:0.2693:0.0	.	235;246	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	L	235;246	ENSP00000374183:S235L;ENSP00000386420:S246L	ENSP00000374183:S235L	S	-	2	0	CAMSAP1	137894238	1.000000	0.71417	0.080000	0.20451	0.975000	0.68041	4.309000	0.59135	0.502000	0.28037	0.563000	0.77884	TCA	CAMSAP1	-	pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain	ENSG00000130559		0.468	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMSAP1	HGNC	protein_coding	OTTHUMT00000055024.2	53	0.00	0	G	XM_351857		138754417	138754417	-1	no_errors	ENST00000409386	ensembl	human	known	69_37n	missense	33	32.65	16	SNP	0.579	A
CAMSAP1	157922	genome.wustl.edu	37	9	138774803	138774803	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:138774803G>A	ENST00000389532.4	-	2	346	c.282C>T	c.(280-282)ctC>ctT	p.L94L	CAMSAP1_ENST00000409386.3_Silent_p.L94L|CAMSAP1_ENST00000312405.6_5'Flank	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	94					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CTTTCAGGATGAGGCTGCAGA	0.562																																						dbGAP											0													62.0	64.0	63.0					9																	138774803		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.282C>T	9.37:g.138774803G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Silent	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain	p.L94	ENST00000389532.4	37	c.282	CCDS35176.2	9																																																																																			CAMSAP1	-	NULL	ENSG00000130559		0.562	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMSAP1	HGNC	protein_coding	OTTHUMT00000055024.2	51	0.00	0	G	XM_351857		138774803	138774803	-1	no_errors	ENST00000409386	ensembl	human	known	69_37n	silent	63	20.25	16	SNP	1.000	A
CAMSAP2	23271	genome.wustl.edu	37	1	200818403	200818403	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:200818403G>A	ENST00000236925.4	+	12	2588	c.2539G>A	c.(2539-2541)Gat>Aat	p.D847N	CAMSAP2_ENST00000413307.2_Missense_Mutation_p.D820N|CAMSAP2_ENST00000358823.2_Missense_Mutation_p.D836N			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	847					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										GTCACTGGCAGATATAAAAGA	0.453																																						dbGAP											0													92.0	101.0	98.0					1																	200818403		2198	4300	6498	-	-	-	SO:0001583	missense	0			AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"""calmodulin regulated spectrin-associated protein 1-like 1"""	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.2539G>A	1.37:g.200818403G>A	ENSP00000236925:p.Asp847Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Missense_Mutation	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain	p.D847N	ENST00000236925.4	37	c.2539		1	.	.	.	.	.	.	.	.	.	.	G	9.202	1.028666	0.19512	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925	T;T;T	0.69561	-0.41;-0.41;-0.41	5.59	5.59	0.84812	.	0.443450	0.25450	N	0.030595	T	0.40498	0.1119	N	0.04959	-0.14	0.18873	N	0.999981	B;B;B	0.24132	0.098;0.045;0.054	B;B;B	0.23574	0.034;0.021;0.047	T	0.14337	-1.0476	10	0.25751	T	0.34	-18.5482	5.712	0.17941	0.1524:0.0:0.6718:0.1758	.	820;847;836	Q08AD1-2;Q08AD1;Q08AD1-3	.;CAMP2_HUMAN;.	N	836;820;847	ENSP00000351684:D836N;ENSP00000416800:D820N;ENSP00000236925:D847N	ENSP00000236925:D847N	D	+	1	0	CAMSAP1L1	199085026	0.998000	0.40836	0.308000	0.25141	0.969000	0.65631	4.952000	0.63618	2.630000	0.89119	0.491000	0.48974	GAT	CAMSAP2	-	NULL	ENSG00000118200		0.453	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CAMSAP2	HGNC	protein_coding	OTTHUMT00000086956.2	69	0.00	0	G	NM_203459		200818403	200818403	+1	no_errors	ENST00000236925	ensembl	human	known	69_37n	missense	87	16.35	17	SNP	0.210	A
CAMSAP2	23271	genome.wustl.edu	37	1	200818586	200818586	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:200818586G>C	ENST00000236925.4	+	12	2771	c.2722G>C	c.(2722-2724)Gaa>Caa	p.E908Q	CAMSAP2_ENST00000413307.2_Missense_Mutation_p.E881Q|CAMSAP2_ENST00000358823.2_Missense_Mutation_p.E897Q			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	908					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										TCTACAACAAGAAATGCAACG	0.403																																						dbGAP											0													127.0	136.0	133.0					1																	200818586		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"""calmodulin regulated spectrin-associated protein 1-like 1"""	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.2722G>C	1.37:g.200818586G>C	ENSP00000236925:p.Glu908Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Missense_Mutation	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain	p.E908Q	ENST00000236925.4	37	c.2722		1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.113855	0.77210	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925	T;T;T	0.71103	-0.54;-0.54;-0.54	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.77177	0.4092	L	0.31420	0.93	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.982;0.987	T	0.71852	-0.4467	10	0.22109	T	0.4	-32.2339	19.9197	0.97082	0.0:0.0:1.0:0.0	.	881;908;897	Q08AD1-2;Q08AD1;Q08AD1-3	.;CAMP2_HUMAN;.	Q	897;881;908	ENSP00000351684:E897Q;ENSP00000416800:E881Q;ENSP00000236925:E908Q	ENSP00000236925:E908Q	E	+	1	0	CAMSAP1L1	199085209	1.000000	0.71417	0.996000	0.52242	0.971000	0.66376	9.840000	0.99478	2.702000	0.92279	0.655000	0.94253	GAA	CAMSAP2	-	NULL	ENSG00000118200		0.403	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CAMSAP2	HGNC	protein_coding	OTTHUMT00000086956.2	41	0.00	0	G	NM_203459		200818586	200818586	+1	no_errors	ENST00000236925	ensembl	human	known	69_37n	missense	49	28.99	20	SNP	1.000	C
CAMTA2	23125	genome.wustl.edu	37	17	4881837	4881837	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:4881837G>A	ENST00000348066.3	-	10	1850	c.1727C>T	c.(1726-1728)tCa>tTa	p.S576L	CAMTA2_ENST00000414043.3_Missense_Mutation_p.S599L|CAMTA2_ENST00000381311.5_Missense_Mutation_p.S578L|CAMTA2_ENST00000361571.5_Missense_Mutation_p.S575L|CAMTA2_ENST00000572543.1_Missense_Mutation_p.S581L|CAMTA2_ENST00000358183.4_Missense_Mutation_p.S576L	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	576	IPT/TIG.				cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						CTGGACAAGTGAGGCTGGCAC	0.567																																						dbGAP											0													117.0	95.0	103.0					17																	4881837		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.1727C>T	17.37:g.4881837G>A	ENSP00000321813:p.Ser576Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Missense_Mutation	SNP	pfam_CG-1_dom,pfam_IPT_TIG_rcpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS	p.S599L	ENST00000348066.3	37	c.1796	CCDS11063.1	17	.	.	.	.	.	.	.	.	.	.	G	34	5.338574	0.95783	.	.	ENSG00000108509	ENST00000414043;ENST00000381311;ENST00000361571;ENST00000358183;ENST00000348066	T;T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99;-0.99	5.35	5.35	0.76521	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.085622	0.48767	D	0.000170	T	0.81475	0.4830	L	0.40543	1.245	0.50039	D	0.999848	P;P;D;D;D	0.76494	0.872;0.877;0.992;0.994;0.999	P;P;D;D;D	0.80764	0.739;0.709;0.974;0.985;0.994	T	0.82548	-0.0402	10	0.72032	D	0.01	-12.5744	16.5911	0.84765	0.0:0.0:1.0:0.0	.	552;599;578;576;575	B7ZM30;E7EWU5;O94983-3;O94983;O94983-4	.;.;.;CMTA2_HUMAN;.	L	599;578;575;576;576	ENSP00000412886:S599L;ENSP00000370712:S578L;ENSP00000354828:S575L;ENSP00000350910:S576L;ENSP00000321813:S576L	ENSP00000321813:S576L	S	-	2	0	CAMTA2	4822561	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	8.668000	0.91158	2.781000	0.95711	0.655000	0.94253	TCA	CAMTA2	-	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set	ENSG00000108509		0.567	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMTA2	HGNC	protein_coding	OTTHUMT00000216876.1	44	0.00	0	G	NM_015099		4881837	4881837	-1	no_errors	ENST00000414043	ensembl	human	known	69_37n	missense	33	15.38	6	SNP	1.000	A
CAND1	55832	genome.wustl.edu	37	12	67688931	67688931	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:67688931G>C	ENST00000545606.1	+	4	923	c.486G>C	c.(484-486)ttG>ttC	p.L162F		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	162					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		CTGATATGTTGAGCAGGTAAG	0.343																																						dbGAP											0													174.0	151.0	159.0					12																	67688931		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"""TBP interacting protein"""	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.486G>C	12.37:g.67688931G>C	ENSP00000442318:p.Leu162Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Missense_Mutation	SNP	pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold	p.L162F	ENST00000545606.1	37	c.486	CCDS8977.1	12	.	.	.	.	.	.	.	.	.	.	G	17.48	3.399217	0.62177	.	.	ENSG00000111530	ENST00000545606;ENST00000299218	T	0.67171	-0.25	5.37	3.56	0.40772	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.66157	0.2761	M	0.83012	2.62	0.80722	D	1	P	0.46457	0.878	B	0.42343	0.384	T	0.65450	-0.6165	9	.	.	.	-1.2066	6.8039	0.23766	0.146:0.0:0.7124:0.1415	.	162	Q86VP6	CAND1_HUMAN	F	162	ENSP00000442318:L162F	.	L	+	3	2	CAND1	65975198	0.999000	0.42202	1.000000	0.80357	0.953000	0.61014	0.429000	0.21412	0.666000	0.31087	0.460000	0.39030	TTG	CAND1	-	superfamily_ARM-type_fold	ENSG00000111530		0.343	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAND1	HGNC	protein_coding	OTTHUMT00000402105.1	138	0.00	0	G	NM_018448		67688931	67688931	+1	no_errors	ENST00000299218	ensembl	human	known	69_37n	missense	98	19.01	23	SNP	1.000	C
CAPN14	440854	genome.wustl.edu	37	2	31417301	31417301	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:31417301C>T	ENST00000403897.3	-	9	1065	c.924G>A	c.(922-924)ctG>ctA	p.L308L	CAPN14_ENST00000444918.2_Silent_p.L308L	NM_001145122.1	NP_001138594.1	A8MX76	CAN14_HUMAN	calpain 14	308	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(1)|endometrium(2)|prostate(1)|skin(1)|stomach(2)	7						TGTCTTTCCTCAGAAGCAGAA	0.433																																						dbGAP											0													84.0	76.0	78.0					2																	31417301		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AC015980	CCDS46254.1	2p23.1-p21	2013-01-10			ENSG00000214711	ENSG00000214711		"""EF-hand domain containing"""	16664	protein-coding gene	gene with protein product		610229				11675017	Standard	NM_001145122		Approved		uc010yms.2	A8MX76	OTTHUMG00000152039	ENST00000403897.3:c.924G>A	2.37:g.31417301C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KRU9	Silent	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.L308	ENST00000403897.3	37	c.924	CCDS46254.1	2																																																																																			CAPN14	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat	ENSG00000214711		0.433	CAPN14-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	CAPN14	HGNC	protein_coding	OTTHUMT00000325010.1	79	0.00	0	C	NM_001145122		31417301	31417301	-1	no_errors	ENST00000444918	ensembl	human	known	69_37n	silent	62	16.22	12	SNP	0.920	T
CAPN3	825	genome.wustl.edu	37	15	42693954	42693954	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:42693954G>A	ENST00000397163.3	+	11	1689	c.1470G>A	c.(1468-1470)cgG>cgA	p.R490R	CAPN3_ENST00000318023.7_Silent_p.R490R|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_Silent_p.R403R|CAPN3_ENST00000397200.4_5'Flank|CAPN3_ENST00000349748.3_Silent_p.R442R|CAPN3_ENST00000357568.3_Silent_p.R490R	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	490	Domain III.		R -> Q (in LGMD2A). {ECO:0000269|PubMed:9266733}.|R -> W (in LGMD2A; dbSNP:rs141656719).		apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		AGAACCGGCGGAAGGACCGGA	0.577																																						dbGAP											0													72.0	61.0	65.0					15																	42693954		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"""EF-hand domain containing"""	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.1470G>A	15.37:g.42693954G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Silent	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_Ca-bd,prints_Calpain_cysteine_protease,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat	p.R490	ENST00000397163.3	37	c.1470	CCDS45245.1	15																																																																																			CAPN3	-	pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III	ENSG00000092529		0.577	CAPN3-009	KNOWN	basic|CCDS	protein_coding	CAPN3	HGNC	protein_coding	OTTHUMT00000421075.1	44	0.00	0	G			42693954	42693954	+1	no_errors	ENST00000397163	ensembl	human	known	69_37n	silent	37	32.73	18	SNP	1.000	A
CAPN8	388743	genome.wustl.edu	37	1	223853138	223853138	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:223853138G>C	ENST00000366873.2	-	1	287	c.211C>G	c.(211-213)Caa>Gaa	p.Q71E	CAPN8_ENST00000366872.5_Missense_Mutation_p.Q71E			A6NHC0	CAN8_HUMAN	calpain 8	71	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				digestion (GO:0007586)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(1)|endometrium(2)|prostate(1)	4						ATGATGCCTTGAGTTTGCGGA	0.547																																						dbGAP											0													81.0	73.0	76.0					1																	223853138		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS73038.1	1q41	2013-01-10	2007-02-21		ENSG00000203697	ENSG00000203697		"""EF-hand domain containing"""	1485	protein-coding gene	gene with protein product			"""calpain 8 (nCL-2)"""			7690035, 8889549	Standard	NM_001143962		Approved	nCL-2	uc009xee.2	A6NHC0	OTTHUMG00000037378	ENST00000366873.2:c.211C>G	1.37:g.223853138G>C	ENSP00000355838:p.Gln71Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RXL2	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.Q71E	ENST00000366873.2	37	c.211		1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.350626	0.41599	.	.	ENSG00000203697	ENST00000366872;ENST00000419193;ENST00000366873	T;T;T	0.41400	1.0;1.0;1.0	5.87	4.95	0.65309	Peptidase C2, calpain, catalytic domain (3);	0.328509	0.27500	U	0.019095	T	0.39600	0.1084	L	0.50333	1.59	0.35919	D	0.831697	B	0.29862	0.259	B	0.23852	0.049	T	0.49504	-0.8933	10	0.51188	T	0.08	.	16.6393	0.85068	0.0:0.1302:0.8698:0.0	.	71	A6NHC0	CAN8_HUMAN	E	71	ENSP00000355837:Q71E;ENSP00000401665:Q71E;ENSP00000355838:Q71E	ENSP00000355837:Q71E	Q	-	1	0	CAPN8	221919761	0.786000	0.28738	0.989000	0.46669	0.661000	0.39034	2.265000	0.43311	1.467000	0.48044	0.514000	0.50259	CAA	CAPN8	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat	ENSG00000203697		0.547	CAPN8-001	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	CAPN8	HGNC	protein_coding	OTTHUMT00000171394.3	59	0.00	0	G	NM_001143962		223853138	223853138	-1	no_errors	ENST00000366872	ensembl	human	known	69_37n	missense	63	33.68	32	SNP	1.000	C
CAPRIN2	65981	genome.wustl.edu	37	12	30873795	30873795	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:30873795G>A	ENST00000298892.5	-	12	2848	c.2098C>T	c.(2098-2100)Cag>Tag	p.Q700*	CAPRIN2_ENST00000308433.5_Nonsense_Mutation_p.Q367*|CAPRIN2_ENST00000395805.2_Intron|CAPRIN2_ENST00000251071.5_Nonsense_Mutation_p.Q700*|CAPRIN2_ENST00000417045.1_Nonsense_Mutation_p.Q700*	NM_023925.3	NP_076414.2			caprin family member 2											breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GAAGAAGCCTGATCGGTAGTA	0.368																																						dbGAP											0													98.0	102.0	101.0					12																	30873795		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"""C1q domain containing 1"""	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000298892.5:c.2098C>T	12.37:g.30873795G>A	ENSP00000298892:p.Gln700*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_Caprin-1_C,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,prints_C1q,pfscan_C1q	p.Q700*	ENST00000298892.5	37	c.2098	CCDS8720.1	12	.	.	.	.	.	.	.	.	.	.	G	37	6.254733	0.97417	.	.	ENSG00000110888	ENST00000433722;ENST00000298892;ENST00000251071;ENST00000308433;ENST00000417045;ENST00000537108	.	.	.	5.35	5.35	0.76521	.	0.300464	0.31636	N	0.007302	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-9.4041	16.2235	0.82274	0.0:0.0:1.0:0.0	.	.	.	.	X	446;700;700;367;700;619	.	ENSP00000251071:Q700X	Q	-	1	0	CAPRIN2	30765062	1.000000	0.71417	0.992000	0.48379	0.984000	0.73092	4.119000	0.57891	2.497000	0.84241	0.591000	0.81541	CAG	CAPRIN2	-	pfam_Caprin-1_C	ENSG00000110888		0.368	CAPRIN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CAPRIN2	HGNC	protein_coding	OTTHUMT00000402778.1	90	0.00	0	G	NM_023925		30873795	30873795	-1	no_errors	ENST00000251071	ensembl	human	known	69_37n	nonsense	58	14.71	10	SNP	1.000	A
RANBP3	8498	genome.wustl.edu	37	19	5914691	5914691	+	IGR	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:5914691G>A	ENST00000340578.6	-	0	3233				AC104532.2_ENST00000588891.1_3'UTR|CAPS_ENST00000222125.5_Silent_p.R67R|CAPS_ENST00000588776.1_Silent_p.R153R|AC104532.4_ENST00000591109.1_RNA|CAPS_ENST00000452990.2_Silent_p.R67R	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3						intracellular transport (GO:0046907)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	R-SMAD binding (GO:0070412)|Ran GTPase binding (GO:0008536)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						GTGTGTGCAGGAAGTGGGACC	0.672																																						dbGAP											0													91.0	97.0	95.0					19																	5914691		2203	4300	6503	-	-	-	SO:0001628	intergenic_variant	0			Y08698	CCDS42477.1, CCDS42478.1, CCDS45935.1, CCDS74268.1	19p13.3	2008-02-05							9850	protein-coding gene	gene with protein product		603327				9637251	Standard	NM_007322		Approved		uc002mdw.3	Q9H6Z4			19.37:g.5914691G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAT8|O60405|O75759|O75760|Q9BT47|Q9UG74	Silent	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.R67	ENST00000340578.6	37	c.201	CCDS42478.1	19																																																																																			CAPS	-	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	ENSG00000105519		0.672	RANBP3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAPS	HGNC	protein_coding	OTTHUMT00000452304.1	41	0.00	0	G	NM_007322		5914691	5914691	+1	no_errors	ENST00000222125	ensembl	human	known	69_37n	silent	39	45.07	32	SNP	0.994	A
CAPS2	84698	genome.wustl.edu	37	12	75685560	75685560	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:75685560C>T	ENST00000409445.3	-	14	1457	c.1261G>A	c.(1261-1263)Gaa>Aaa	p.E421K	CAPS2_ENST00000393284.3_Missense_Mutation_p.E189K|CAPS2_ENST00000442339.2_Missense_Mutation_p.E11K|CAPS2_ENST00000409799.1_Missense_Mutation_p.E339K|RP11-560G2.1_ENST00000549953.1_RNA|CAPS2_ENST00000409004.1_5'UTR	NM_032606.3	NP_115995.2	Q9BXY5	CAYP2_HUMAN	calcyphosine 2	421							calcium ion binding (GO:0005509)			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						TCATTGGTTTCTTGAATGATT	0.313																																						dbGAP											0													137.0	131.0	133.0					12																	75685560		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF251056	CCDS9008.2, CCDS66424.1, CCDS73497.1	12q14.1	2013-01-10	2005-05-09		ENSG00000180881	ENSG00000180881		"""EF-hand domain containing"""	16471	protein-coding gene	gene with protein product		607724	"""calcyphosphine 2"""			11846421	Standard	NM_032606		Approved		uc001sxk.4	Q9BXY5	OTTHUMG00000152787	ENST00000409445.3:c.1261G>A	12.37:g.75685560C>T	ENSP00000386959:p.Glu421Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6PH84|Q8N242|Q8NAY5	Missense_Mutation	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.E421K	ENST00000409445.3	37	c.1261	CCDS9008.2	12	.	.	.	.	.	.	.	.	.	.	C	13.53	2.265357	0.40095	.	.	ENSG00000180881	ENST00000409799;ENST00000409445;ENST00000378703;ENST00000393284;ENST00000442339	T;T;T;T	0.25579	1.85;1.79;1.86;1.81	4.73	4.73	0.59995	.	0.167652	0.36338	N	0.002653	T	0.34919	0.0914	M	0.69823	2.125	0.26508	N	0.974656	P;P;B;D;D	0.57899	0.941;0.818;0.177;0.968;0.981	P;B;B;P;P	0.48454	0.559;0.299;0.098;0.578;0.543	T	0.30416	-0.9979	10	0.45353	T	0.12	-16.3829	11.89	0.52624	0.1737:0.8263:0.0:0.0	.	11;189;157;421;339	A2RRN2;Q9BXY5-2;Q9BXY5-3;Q9BXY5;B9A061	.;.;.;CAYP2_HUMAN;.	K	339;421;157;189;11	ENSP00000386977:E339K;ENSP00000386959:E421K;ENSP00000376963:E189K;ENSP00000389633:E11K	ENSP00000367975:E157K	E	-	1	0	CAPS2	73971827	0.990000	0.36364	0.353000	0.25747	0.166000	0.22503	1.438000	0.35002	2.447000	0.82792	0.544000	0.68410	GAA	CAPS2	-	NULL	ENSG00000180881		0.313	CAPS2-001	KNOWN	basic|CCDS	protein_coding	CAPS2	HGNC	protein_coding	OTTHUMT00000327880.2	173	0.00	0	C			75685560	75685560	-1	no_errors	ENST00000409445	ensembl	human	known	69_37n	missense	120	18.92	28	SNP	0.619	T
CAPZB	832	genome.wustl.edu	37	1	19683156	19683156	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:19683156C>T	ENST00000375142.1	-	6	607	c.561G>A	c.(559-561)atG>atA	p.M187I	CAPZB_ENST00000433834.1_Missense_Mutation_p.M216I|CAPZB_ENST00000264203.3_Missense_Mutation_p.M213I|CAPZB_ENST00000375144.1_Missense_Mutation_p.M175I|CAPZB_ENST00000264202.6_Missense_Mutation_p.M187I|CAPZB_ENST00000401084.2_Missense_Mutation_p.M187I	NM_001206540.1	NP_001193469.1	P47756	CAPZB_HUMAN	capping protein (actin filament) muscle Z-line, beta	187					actin cytoskeleton organization (GO:0030036)|barbed-end actin filament capping (GO:0051016)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|muscle fiber development (GO:0048747)|negative regulation of microtubule polymerization (GO:0031115)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)|regulation of protein kinase C signaling (GO:0090036)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|membrane (GO:0016020)|WASH complex (GO:0071203)|Z disc (GO:0030018)	actin binding (GO:0003779)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)		CTCCGAGGTTCATGGTGCCAG	0.577																																						dbGAP											0													177.0	187.0	184.0					1																	19683156		2113	4235	6348	-	-	-	SO:0001583	missense	0			U03271	CCDS41277.1, CCDS55579.1, CCDS72717.1, CCDS72718.1	1p36.1	2014-05-09			ENSG00000077549	ENSG00000077549			1491	protein-coding gene	gene with protein product		601572					Standard	NM_004930		Approved		uc021ohr.1	P47756	OTTHUMG00000002556	ENST00000375142.1:c.561G>A	1.37:g.19683156C>T	ENSP00000364284:p.Met187Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q32Q68|Q5U0L4|Q8TB49|Q9NUC4	Missense_Mutation	SNP	pfam_WASH_F-actin_cap_beta,prints_WASH_F-actin_cap_beta	p.M216I	ENST00000375142.1	37	c.648	CCDS55579.1	1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.652985	0.67472	.	.	ENSG00000077549	ENST00000401084;ENST00000264203;ENST00000375144;ENST00000375142;ENST00000433834;ENST00000375145;ENST00000264202;ENST00000413711	.	.	.	5.43	5.43	0.79202	.	0.069156	0.85682	D	0.000000	T	0.67664	0.2917	L	0.60012	1.86	0.80722	D	1	B;B;B;B	0.32031	0.0;0.352;0.0;0.001	B;B;B;B	0.42422	0.013;0.387;0.003;0.013	T	0.64719	-0.6341	9	0.34782	T	0.22	-10.0596	17.8626	0.88786	0.0:1.0:0.0:0.0	.	216;213;187;175	B1AK88;B1AK85;P47756-2;B1AK87	.;.;.;.	I	187;213;175;187;216;249;187;175	.	ENSP00000264202:M187I	M	-	3	0	CAPZB	19555743	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.289000	0.78701	2.571000	0.86741	0.558000	0.71614	ATG	CAPZB	-	pfam_WASH_F-actin_cap_beta	ENSG00000077549		0.577	CAPZB-003	KNOWN	basic|CCDS	protein_coding	CAPZB	HGNC	protein_coding	OTTHUMT00000007260.1	61	0.00	0	C			19683156	19683156	-1	no_errors	ENST00000433834	ensembl	human	known	69_37n	missense	68	20.93	18	SNP	1.000	T
CARD8	22900	genome.wustl.edu	37	19	48734038	48734038	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:48734038G>C	ENST00000359009.4	-	5	765	c.453C>G	c.(451-453)ctC>ctG	p.L151L	CARD8_ENST00000520753.1_Silent_p.L256L|CARD8_ENST00000520153.1_Silent_p.L206L|CARD8_ENST00000391898.3_Silent_p.L256L|CARD8_ENST00000447740.2_Silent_p.L206L|CARD8_ENST00000519940.1_Silent_p.L256L|CARD8_ENST00000521613.1_Silent_p.L206L|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000357778.5_5'UTR|CARD8_ENST00000520015.1_Silent_p.L256L			Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	151					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)|NLRP3 inflammasome complex (GO:0072559)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|NACHT domain binding (GO:0032089)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		CATTACCTTGGAGGGAGATGA	0.627																																						dbGAP											0													38.0	41.0	40.0					19																	48734038		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB023172	CCDS12712.1, CCDS12712.2, CCDS54287.1, CCDS54288.1, CCDS54289.1	19q13.33	2011-05-24			ENSG00000105483	ENSG00000105483			17057	protein-coding gene	gene with protein product		609051				10231032, 11408476	Standard	NM_001184900		Approved	TUCAN, KIAA0955, CARDINAL, NDPP, Dakar	uc010xzj.2	Q9Y2G2	OTTHUMG00000165047	ENST00000359009.4:c.453C>G	19.37:g.48734038G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B5KVR6|B7Z496|B7Z4A2|E9PEM7|G3XAM9|Q6PGP8|Q96P82	Silent	SNP	pfam_CARD,superfamily_DEATH-like,pfscan_CARD	p.L256	ENST00000359009.4	37	c.768		19																																																																																			CARD8	-	NULL	ENSG00000105483		0.627	CARD8-202	KNOWN	basic|appris_candidate	protein_coding	CARD8	HGNC	protein_coding		17	0.00	0	G	NM_014959		48734038	48734038	-1	no_errors	ENST00000391898	ensembl	human	known	69_37n	silent	19	20.83	5	SNP	0.071	C
CARKD	55739	genome.wustl.edu	37	13	111290693	111290693	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr13:111290693C>A	ENST00000309957.2	+	10	1012	c.998C>A	c.(997-999)tCc>tAc	p.S333Y	CARKD_ENST00000470164.2_Intron|CARKD_ENST00000458711.2_Intron|CARKD_ENST00000424185.2_Intron	NM_001242881.1|NM_018210.3	NP_001229810.1|NP_060680.2			carbohydrate kinase domain containing											NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	15						ACGCCCACTTCCCCACACCTC	0.602																																						dbGAP											0													85.0	97.0	93.0					13																	111290693		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF151071	CCDS9513.1, CCDS55903.1	13q34	2008-12-19			ENSG00000213995	ENSG00000213995			25576	protein-coding gene	gene with protein product		615910					Standard	NM_018210		Approved	LP3298, FLJ10769	uc001vrc.3	Q8IW45	OTTHUMG00000017345	ENST00000309957.2:c.998C>A	13.37:g.111290693C>A	ENSP00000311984:p.Ser333Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_UPF_carb_kinase-rel,tigrfam_UPF_carb_kinase-rel	p.S333Y	ENST00000309957.2	37	c.998	CCDS9513.1	13	.	.	.	.	.	.	.	.	.	.	C	9.739	1.164295	0.21538	.	.	ENSG00000213995	ENST00000309957	T	0.26660	1.72	3.0	0.141	0.14811	.	4.498540	0.00357	N	0.000025	T	0.20251	0.0487	.	.	.	0.09310	N	1	B	0.28636	0.218	B	0.24155	0.051	T	0.28870	-1.0030	9	0.87932	D	0	.	6.2677	0.20936	0.0:0.5986:0.0:0.4013	.	333	Q8IW45-2	.	Y	333	ENSP00000311984:S333Y	ENSP00000311984:S333Y	S	+	2	0	CARKD	110088694	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.149000	0.10204	0.095000	0.17434	0.511000	0.50034	TCC	CARKD	-	NULL	ENSG00000213995		0.602	CARKD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARKD	HGNC	protein_coding	OTTHUMT00000045764.1	41	0.00	0	C	NM_018210		111290693	111290693	+1	no_errors	ENST00000309957	ensembl	human	known	69_37n	missense	22	21.43	6	SNP	0.000	A
CARS	833	genome.wustl.edu	37	11	3037024	3037024	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:3037024C>T	ENST00000397111.5	-	16	1969	c.1724G>A	c.(1723-1725)gGa>gAa	p.G575E	CARS_ENST00000397114.3_Missense_Mutation_p.G565E|CARS_ENST00000278224.9_Missense_Mutation_p.G575E|CARS_ENST00000380525.4_Missense_Mutation_p.G658E|CARS_ENST00000401769.3_Missense_Mutation_p.G588E			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	575					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	GAGGCTGGTTCCAGGCCCTCC	0.597			T	ALK	ALCL																																Ovarian(61;932 1157 5961 20446 52152)	dbGAP		Dom	yes		11	11p15.5	833	cysteinyl-tRNA synthetase		L	0													86.0	83.0	84.0					11																	3037024		2202	4298	6500	-	-	-	SO:0001583	missense	0			AF288207	CCDS7742.1, CCDS41600.1, CCDS41602.1	11p15.5	2011-07-01			ENSG00000110619	ENSG00000110619	6.1.1.16	"""Aminoacyl tRNA synthetases / Class I"""	1493	protein-coding gene	gene with protein product	"""cysteine tRNA ligase 1, cytoplasmic"""	123859				8468064	Standard	NM_139273		Approved	CARS1	uc001lxf.3	P49589	OTTHUMG00000010927	ENST00000397111.5:c.1724G>A	11.37:g.3037024C>T	ENSP00000380300:p.Gly575Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53XI8|Q5HYE4|Q9HD24|Q9HD25	Missense_Mutation	SNP	pfam_Cys-tRNA/MSH_ligase,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,prints_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-synt	p.G658E	ENST00000397111.5	37	c.1973	CCDS7742.1	11	.	.	.	.	.	.	.	.	.	.	C	7.996	0.754359	0.15778	.	.	ENSG00000110619	ENST00000380525;ENST00000397111;ENST00000278224;ENST00000397114;ENST00000401769	T;T;T;T;T	0.44083	0.94;0.94;0.94;0.94;0.93	3.74	1.87	0.25490	Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.703621	0.14225	N	0.333151	T	0.26702	0.0653	L	0.41906	1.305	0.09310	N	0.999998	B;B;B;B;B;B	0.14438	0.001;0.01;0.005;0.004;0.004;0.005	B;B;B;B;B;B	0.18561	0.003;0.022;0.006;0.008;0.002;0.006	T	0.31364	-0.9946	10	0.05833	T	0.94	-16.9959	6.8834	0.24187	0.0:0.6919:0.0:0.308	.	588;658;575;575;658;565	B4DKY1;B4DPV7;P49589;P49589-2;Q5HYE4;A8MVQ3	.;.;SYCC_HUMAN;.;.;.	E	658;575;575;565;588	ENSP00000369897:G658E;ENSP00000380300:G575E;ENSP00000278224:G575E;ENSP00000380303:G565E;ENSP00000384069:G588E	ENSP00000278224:G575E	G	-	2	0	CARS	2993600	0.023000	0.18921	0.002000	0.10522	0.030000	0.12068	1.183000	0.32041	0.575000	0.29434	0.462000	0.41574	GGA	CARS	-	superfamily_tRNAsynth_1a_anticodon-bd,tigrfam_Cys-tRNA-synt	ENSG00000110619		0.597	CARS-001	KNOWN	basic|CCDS	protein_coding	CARS	HGNC	protein_coding	OTTHUMT00000030117.4	33	0.00	0	C	NM_001751		3037024	3037024	-1	no_errors	ENST00000380525	ensembl	human	known	69_37n	missense	51	12.07	7	SNP	0.008	T
CASC1	55259	genome.wustl.edu	37	12	25297459	25297459	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:25297459G>A	ENST00000320267.9	-	8	905	c.824C>T	c.(823-825)tCt>tTt	p.S275F	CASC1_ENST00000537577.1_Missense_Mutation_p.S163F|CASC1_ENST00000395987.3_Missense_Mutation_p.S281F|CASC1_ENST00000545133.1_Missense_Mutation_p.S216F|CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000354189.5_Missense_Mutation_p.S339F|CASC1_ENST00000395990.2_Missense_Mutation_p.S235F	NM_001082973.1	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	275										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			AGTTACTGCAGAAGTGTATTC	0.413																																						dbGAP											0													192.0	172.0	179.0					12																	25297459		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK093102	CCDS31759.2, CCDS41762.1, CCDS41763.1, CCDS55810.1, CCDS55811.1	12p12.1	2012-04-17			ENSG00000118307	ENSG00000118307		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 54"""					14583591	Standard	NM_018272		Approved	LAS1, FLJ10921, PPP1R54	uc001rgk.3	Q6TDU7	OTTHUMG00000150195	ENST00000320267.9:c.824C>T	12.37:g.25297459G>A	ENSP00000313141:p.Ser275Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DNP2|F5H6T6|Q17RL2|Q4G171|Q5U5K5|Q9NV50	Missense_Mutation	SNP	pfam_Casc1_domain,prints_Casc1	p.S281F	ENST00000320267.9	37	c.842	CCDS41762.1	12	.	.	.	.	.	.	.	.	.	.	G	10.84	1.464350	0.26335	.	.	ENSG00000118307	ENST00000354189;ENST00000395987;ENST00000320267;ENST00000395990;ENST00000537577;ENST00000395992;ENST00000545133;ENST00000389246	T;T;T;T;T	0.50813	0.73;1.35;1.35;0.78;0.78	4.36	2.34	0.29019	Casc1 domain (1);	2.470290	0.01152	N	0.006440	T	0.45915	0.1366	L	0.50333	1.59	0.09310	N	1	P;P;P;P;P	0.44380	0.73;0.834;0.834;0.772;0.834	B;B;B;B;B	0.42282	0.295;0.218;0.382;0.309;0.276	T	0.36237	-0.9756	10	0.56958	D	0.05	1.5947	4.4662	0.11691	0.1166:0.0:0.6464:0.237	.	163;216;339;275;281	F5H555;F5H6T6;Q6TDU7-3;Q6TDU7;F8W8F9	.;.;.;CASC1_HUMAN;.	F	339;281;275;235;163;281;216;85	ENSP00000346126:S339F;ENSP00000379310:S281F;ENSP00000313141:S275F;ENSP00000379313:S235F;ENSP00000437373:S216F	ENSP00000313141:S275F	S	-	2	0	CASC1	25188726	0.001000	0.12720	0.001000	0.08648	0.002000	0.02628	0.867000	0.27968	1.065000	0.40693	0.579000	0.79373	TCT	CASC1	-	pfam_Casc1_domain	ENSG00000118307		0.413	CASC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CASC1	HGNC	protein_coding	OTTHUMT00000316761.1	176	0.00	0	G	NM_018272		25297459	25297459	-1	no_errors	ENST00000395987	ensembl	human	known	69_37n	missense	79	31.30	36	SNP	0.000	A
CASC3	22794	genome.wustl.edu	37	17	38320318	38320318	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:38320318C>T	ENST00000264645.7	+	7	1596	c.1370C>T	c.(1369-1371)tCt>tTt	p.S457F		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	457	Necessary for localization in cytoplasmic stress granules.				gene expression (GO:0010467)|intracellular mRNA localization (GO:0008298)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translation (GO:0006417)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						CCGGTGGATTCTAGTACAAGT	0.537																																						dbGAP											0													56.0	53.0	54.0					17																	38320318		2203	4300	6503	-	-	-	SO:0001583	missense	0			X80199	CCDS11362.1	17q21.1	2012-09-20			ENSG00000108349	ENSG00000108349			17040	protein-coding gene	gene with protein product		606504				7490069, 18332872	Standard	NM_007359		Approved	MLN51, BTZ	uc002hue.3	O15234	OTTHUMG00000133323	ENST00000264645.7:c.1370C>T	17.37:g.38320318C>T	ENSP00000264645:p.Ser457Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8R0	Missense_Mutation	SNP	pfam_Btz_dom	p.S457F	ENST00000264645.7	37	c.1370	CCDS11362.1	17	.	.	.	.	.	.	.	.	.	.	C	4.870	0.161667	0.09287	.	.	ENSG00000108349	ENST00000264645;ENST00000418132;ENST00000394114	.	.	.	5.08	5.08	0.68730	.	0.200289	0.44097	D	0.000491	T	0.44932	0.1317	N	0.19112	0.55	0.28895	N	0.893609	D;D	0.67145	0.996;0.991	P;P	0.59703	0.862;0.77	T	0.41805	-0.9488	9	0.66056	D	0.02	-20.065	13.9653	0.64205	0.0:0.8481:0.1519:0.0	.	457;457	B4DKR6;O15234	.;CASC3_HUMAN	F	457	.	ENSP00000264645:S457F	S	+	2	0	CASC3	35573844	0.931000	0.31567	0.854000	0.33618	0.233000	0.25261	2.605000	0.46283	2.648000	0.89879	0.563000	0.77884	TCT	CASC3	-	NULL	ENSG00000108349		0.537	CASC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASC3	HGNC	protein_coding	OTTHUMT00000257127.3	28	0.00	0	C	NM_007359		38320318	38320318	+1	no_errors	ENST00000264645	ensembl	human	known	69_37n	missense	20	20.00	5	SNP	0.299	T
CASC5	57082	genome.wustl.edu	37	15	40914878	40914878	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:40914878G>C	ENST00000346991.5	+	11	2884	c.2494G>C	c.(2494-2496)Gaa>Caa	p.E832Q	CASC5_ENST00000399668.2_Missense_Mutation_p.E806Q|CASC5_ENST00000527044.1_3'UTR			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	832					acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		TGTAAAAGTTGAAAAATGTGG	0.358																																						dbGAP											0													63.0	56.0	58.0					15																	40914878		1811	4078	5889	-	-	-	SO:0001583	missense	0			AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	24054	protein-coding gene	gene with protein product	"""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""blinkin, bub-linking kinetochore protein"", ""protein phosphatase 1, regulatory subunit 55"""	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.2494G>C	15.37:g.40914878G>C	ENSP00000335463:p.Glu832Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	NULL	p.E832Q	ENST00000346991.5	37	c.2494	CCDS42023.1	15	.	.	.	.	.	.	.	.	.	.	G	11.50	1.656785	0.29425	.	.	ENSG00000137812	ENST00000346991;ENST00000260369;ENST00000399668	T;T	0.06218	3.33;3.33	4.2	2.3	0.28687	.	0.800421	0.10903	N	0.621400	T	0.10723	0.0262	L	0.54323	1.7	0.09310	N	1	P;P;P	0.48016	0.904;0.904;0.904	P;P;P	0.47573	0.463;0.55;0.55	T	0.20438	-1.0275	10	0.54805	T	0.06	.	8.4033	0.32599	0.2661:0.0:0.7339:0.0	.	806;832;806	Q8NG31-2;Q8NG31;Q8NG31-4	.;CASC5_HUMAN;.	Q	832;806;806	ENSP00000335463:E832Q;ENSP00000382576:E806Q	ENSP00000260369:E806Q	E	+	1	0	CASC5	38702170	0.032000	0.19561	0.682000	0.30024	0.028000	0.11728	0.497000	0.22514	0.419000	0.25927	0.557000	0.71058	GAA	CASC5	-	NULL	ENSG00000137812		0.358	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CASC5	HGNC	protein_coding	OTTHUMT00000390224.2	64	0.00	0	G	NM_144508		40914878	40914878	+1	no_errors	ENST00000346991	ensembl	human	known	69_37n	missense	33	15.38	6	SNP	0.063	C
CASP10	843	genome.wustl.edu	37	2	202050503	202050503	+	Start_Codon_SNP	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:202050503G>A	ENST00000272879.5	+	2	187	c.3G>A	c.(1-3)atG>atA	p.M1I	CASP10_ENST00000374650.3_Start_Codon_SNP_p.M1I|CASP10_ENST00000360132.3_Start_Codon_SNP_p.M1I|CASP10_ENST00000346817.5_Start_Codon_SNP_p.M1I|CASP10_ENST00000448480.1_Start_Codon_SNP_p.M1I|CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000286186.6_Start_Codon_SNP_p.M1I|CASP10_ENST00000313728.7_Start_Codon_SNP_p.M1I	NM_032974.4	NP_116756.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	1					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|innate immune response (GO:0045087)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|death effector domain binding (GO:0035877)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						GGCTGGCCATGAAATCTCAAG	0.498																																						dbGAP											0													67.0	73.0	71.0					2																	202050503		2203	4300	6503	-	-	-	SO:0001582	initiator_codon_variant	0			U60519	CCDS2338.1, CCDS2339.1, CCDS2340.1, CCDS56159.1, CCDS56160.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000003400	ENSG00000003400	3.4.22.63	"""Caspases"""	1500	protein-coding gene	gene with protein product		601762	"""caspase 10, apoptosis-related cysteine protease"""			8755496	Standard	NM_032974		Approved	MCH4	uc002uxj.1	Q92851	OTTHUMG00000132818	ENST00000272879.5:c.3G>A	2.37:g.202050503G>A	ENSP00000272879:p.Met1Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68HC0|Q6KF62|Q6KF63|Q8IUP5|Q8WYQ8|Q99845|Q9Y2U6|Q9Y2U7	Missense_Mutation	SNP	pfam_Pept_C14_cat,pfam_DED,superfamily_DEATH-like,smart_DED,smart_Pept_C14_p45_core,prints_Pept_C14_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20	p.M1I	ENST00000272879.5	37	c.3	CCDS2338.1	2	.	.	.	.	.	.	.	.	.	.	G	15.06	2.719942	0.48728	.	.	ENSG00000003400	ENST00000286186;ENST00000360132;ENST00000272879;ENST00000374650;ENST00000346817;ENST00000313728;ENST00000448480	T;T;T;T;T;T;T	0.50001	4.54;0.76;4.44;0.86;4.47;4.15;4.39	4.46	0.277	0.15668	.	0.636227	0.12988	N	0.422724	T	0.58133	0.2101	.	.	.	0.80722	D	1	B;B;P;B;P;D	0.57899	0.386;0.386;0.818;0.386;0.886;0.981	B;B;B;B;B;D	0.67900	0.178;0.178;0.219;0.178;0.391;0.954	T	0.58825	-0.7568	9	0.87932	D	0	.	2.4938	0.04616	0.1798:0.1475:0.5217:0.151	.	1;1;1;1;1;1	Q92851-6;Q92851-5;Q92851;Q92851-2;Q92851-4;Q68HC0	.;.;CASPA_HUMAN;.;.;.	I	1	ENSP00000286186:M1I;ENSP00000353250:M1I;ENSP00000272879:M1I;ENSP00000363781:M1I;ENSP00000237865:M1I;ENSP00000314599:M1I;ENSP00000396835:M1I	ENSP00000272879:M1I	M	+	3	0	CASP10	201758748	0.030000	0.19436	0.000000	0.03702	0.019000	0.09904	1.037000	0.30241	0.224000	0.20940	-0.140000	0.14226	ATG	CASP10	-	NULL	ENSG00000003400		0.498	CASP10-002	KNOWN	basic|CCDS	protein_coding	CASP10	HGNC	protein_coding	OTTHUMT00000256273.1	17	0.00	0	G	NM_032977	Missense_Mutation	202050503	202050503	+1	no_errors	ENST00000286186	ensembl	human	known	69_37n	missense	19	17.39	4	SNP	0.000	A
CASP8AP2	9994	genome.wustl.edu	37	6	90573820	90573820	+	RNA	SNP	A	A	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:90573820A>C	ENST00000551025.1	+	0	3829									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		ACTGGTTGAGAGTAAGTCGTG	0.413																																					Colon(187;1656 2025 17045 31481 39901)	dbGAP											0													154.0	153.0	153.0					6																	90573820		1879	4108	5987	-	-	-			0			AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90573820A>C		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000551025.1	37	NULL		6																																																																																			CASP8AP2	-	-	ENSG00000118412		0.413	CASP8AP2-202	KNOWN	basic	processed_transcript	CASP8AP2	HGNC	processed_transcript		82	0.00	0	A	NM_001137667		90573820	90573820	+1	no_errors	ENST00000237177	ensembl	human	known	69_37n	rna	50	27.54	19	SNP	0.001	C
CASP8AP2	9994	genome.wustl.edu	37	6	90575899	90575899	+	RNA	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:90575899C>T	ENST00000551025.1	+	0	4327									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		AGCTGATGTGCGGAAGTCAAA	0.363																																					Colon(187;1656 2025 17045 31481 39901)	dbGAP											0													43.0	41.0	42.0					6																	90575899		1873	4108	5981	-	-	-			0			AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90575899C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000551025.1	37	NULL		6																																																																																			CASP8AP2	-	-	ENSG00000118412		0.363	CASP8AP2-202	KNOWN	basic	processed_transcript	CASP8AP2	HGNC	processed_transcript		39	0.00	0	C	NM_001137667		90575899	90575899	+1	no_errors	ENST00000237177	ensembl	human	known	69_37n	rna	37	17.78	8	SNP	0.009	T
CASS4	57091	genome.wustl.edu	37	20	55026946	55026946	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:55026946G>C	ENST00000360314.3	+	6	939	c.714G>C	c.(712-714)caG>caC	p.Q238H	CASS4_ENST00000434344.1_Intron|CASS4_ENST00000371336.3_Missense_Mutation_p.Q238H	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	238					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						CAAATCCTCAGAAATCGGAAT	0.527																																						dbGAP											0													65.0	61.0	63.0					20																	55026946		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ276678	CCDS33492.1, CCDS54475.1	20q13.31	2011-04-13	2008-04-14	2008-04-15	ENSG00000087589	ENSG00000087589		"""Cas scaffolding proteins"""	15878	protein-coding gene	gene with protein product	"""HEF-like protein"", ""HEF1-Efs-p130Cas-like"""		"""chromosome 20 open reading frame 32"""	C20orf32			Standard	NM_020356		Approved	HEFL, HEPL	uc002xxr.2	Q9NQ75	OTTHUMG00000032788	ENST00000360314.3:c.714G>C	20.37:g.55026946G>C	ENSP00000353462:p.Gln238His	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Missense_Mutation	SNP	pfam_Serine_rich,pfam_CAS_DUF3513,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.Q238H	ENST00000360314.3	37	c.714	CCDS33492.1	20	.	.	.	.	.	.	.	.	.	.	G	13.64	2.298872	0.40694	.	.	ENSG00000087589	ENST00000360314;ENST00000371336	T;T	0.13307	2.6;2.6	5.23	4.29	0.51040	.	0.832436	0.10855	N	0.626781	T	0.29288	0.0729	M	0.70595	2.14	0.31980	N	0.606037	D;D;D	0.65815	0.974;0.995;0.976	P;P;P	0.56474	0.694;0.799;0.635	T	0.20075	-1.0286	10	0.41790	T	0.15	-13.6821	9.7526	0.40485	0.0723:0.2553:0.6724:0.0	.	184;238;238	B4DII4;Q9NQ75-2;Q9NQ75	.;.;CASS4_HUMAN	H	238	ENSP00000353462:Q238H;ENSP00000360387:Q238H	ENSP00000353462:Q238H	Q	+	3	2	CASS4	54460353	1.000000	0.71417	0.995000	0.50966	0.373000	0.29922	1.373000	0.34272	1.338000	0.45544	0.563000	0.77884	CAG	CASS4	-	NULL	ENSG00000087589		0.527	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASS4	HGNC	protein_coding	OTTHUMT00000079789.2	33	0.00	0	G	NM_020356		55026946	55026946	+1	no_errors	ENST00000360314	ensembl	human	known	69_37n	missense	37	13.95	6	SNP	1.000	C
CASS4	57091	genome.wustl.edu	37	20	55027880	55027880	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:55027880G>T	ENST00000360314.3	+	6	1873	c.1648G>T	c.(1648-1650)Gac>Tac	p.D550Y	CASS4_ENST00000434344.1_Intron|CASS4_ENST00000371336.3_Missense_Mutation_p.D550Y	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	550					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						TCTTGTGACTGACAGTGTCCA	0.498																																						dbGAP											0													95.0	87.0	90.0					20																	55027880		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ276678	CCDS33492.1, CCDS54475.1	20q13.31	2011-04-13	2008-04-14	2008-04-15	ENSG00000087589	ENSG00000087589		"""Cas scaffolding proteins"""	15878	protein-coding gene	gene with protein product	"""HEF-like protein"", ""HEF1-Efs-p130Cas-like"""		"""chromosome 20 open reading frame 32"""	C20orf32			Standard	NM_020356		Approved	HEFL, HEPL	uc002xxr.2	Q9NQ75	OTTHUMG00000032788	ENST00000360314.3:c.1648G>T	20.37:g.55027880G>T	ENSP00000353462:p.Asp550Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Missense_Mutation	SNP	pfam_Serine_rich,pfam_CAS_DUF3513,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.D550Y	ENST00000360314.3	37	c.1648	CCDS33492.1	20	.	.	.	.	.	.	.	.	.	.	G	18.09	3.546980	0.65198	.	.	ENSG00000087589	ENST00000360314;ENST00000371336	T;T	0.25414	1.8;1.8	6.17	4.24	0.50183	Serine rich protein interaction (1);	0.141010	0.64402	D	0.000009	T	0.47985	0.1475	M	0.76002	2.32	0.45490	D	0.998459	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.971;0.977	T	0.46289	-0.9202	10	0.66056	D	0.02	-33.1591	9.4462	0.38699	0.2622:0.0:0.7378:0.0	.	496;550;550	B4DII4;Q9NQ75-2;Q9NQ75	.;.;CASS4_HUMAN	Y	550	ENSP00000353462:D550Y;ENSP00000360387:D550Y	ENSP00000353462:D550Y	D	+	1	0	CASS4	54461287	0.994000	0.37717	0.049000	0.19019	0.967000	0.64934	2.425000	0.44723	0.938000	0.37419	0.655000	0.94253	GAC	CASS4	-	pfam_Serine_rich	ENSG00000087589		0.498	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASS4	HGNC	protein_coding	OTTHUMT00000079789.2	61	0.00	0	G	NM_020356		55027880	55027880	+1	no_errors	ENST00000360314	ensembl	human	known	69_37n	missense	104	15.45	19	SNP	0.828	T
CASZ1	54897	genome.wustl.edu	37	1	10714483	10714483	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:10714483delG	ENST00000377022.3	-	10	2148	c.1831delC	c.(1831-1833)cacfs	p.H611fs	CASZ1_ENST00000344008.5_Frame_Shift_Del_p.H611fs|RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	611					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		TACCTGCAGTGGAAGTGCGTG	0.647																																						dbGAP											0													94.0	87.0	89.0					1																	10714483		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.1831delC	1.37:g.10714483delG	ENSP00000366221:p.His611fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Frame_Shift_Del	DEL	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H611fs	ENST00000377022.3	37	c.1831	CCDS41246.1	1																																																																																			CASZ1	-	smart_Znf_C2H2-like	ENSG00000130940		0.647	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CASZ1	HGNC	protein_coding	OTTHUMT00000005673.2	64	0.00	0	G	NM_017766		10714483	10714483	-1	no_errors	ENST00000377022	ensembl	human	known	69_37n	frame_shift_del	47	41.46	34	DEL	1.000	-
CATSPER3	347732	genome.wustl.edu	37	5	134344659	134344659	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:134344659C>T	ENST00000282611.6	+	5	890	c.804C>T	c.(802-804)atC>atT	p.I268I		NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	268					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|endoplasmic reticulum (GO:0005783)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTGTGATGATCATGCACACAG	0.542																																						dbGAP											0													197.0	167.0	177.0					5																	134344659		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF432876	CCDS4181.1	5q31.2	2011-07-05			ENSG00000152705	ENSG00000152705		"""Voltage-gated ion channels / Cation channels, sperm associated"""	20819	protein-coding gene	gene with protein product		609120				12646162, 12932298, 17227845, 16382101	Standard	NM_178019		Approved	CACRC	uc003lag.3	Q86XQ3	OTTHUMG00000129137	ENST00000282611.6:c.804C>T	5.37:g.134344659C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86XS6	Silent	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel	p.I268	ENST00000282611.6	37	c.804	CCDS4181.1	5																																																																																			CATSPER3	-	pfam_PKD1_2_channel	ENSG00000152705		0.542	CATSPER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CATSPER3	HGNC	protein_coding	OTTHUMT00000251191.2	133	0.00	0	C	NM_178019		134344659	134344659	+1	no_errors	ENST00000282611	ensembl	human	known	69_37n	silent	162	12.43	23	SNP	1.000	T
CATSPER4	378807	genome.wustl.edu	37	1	26527894	26527894	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:26527894G>C	ENST00000456354.2	+	9	1316	c.1249G>C	c.(1249-1251)Gag>Cag	p.E417Q		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	417					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGGAGTCAGAGGTGTTGAA	0.592																																						dbGAP											0													94.0	86.0	89.0					1																	26527894		2203	4300	6503	-	-	-	SO:0001583	missense	0			BN000273	CCDS30645.1	1p35.3	2011-07-05			ENSG00000188782	ENSG00000188782		"""Voltage-gated ion channels / Cation channels, sperm associated"""	23220	protein-coding gene	gene with protein product		609121				12932298, 17227845, 16382101	Standard	NM_198137		Approved		uc010oez.2	Q7RTX7	OTTHUMG00000003383	ENST00000456354.2:c.1249G>C	1.37:g.26527894G>C	ENSP00000390423:p.Glu417Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A4W6|Q5VY71	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel	p.E417Q	ENST00000456354.2	37	c.1249	CCDS30645.1	1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.846042	0.51164	.	.	ENSG00000188782	ENST00000338855;ENST00000456354	D;D	0.97906	-4.59;-4.6	5.1	5.1	0.69264	.	0.124523	0.35903	N	0.002901	D	0.97801	0.9278	L	0.56769	1.78	0.09310	N	0.999999	D	0.71674	0.998	P	0.60789	0.879	D	0.94083	0.7346	10	0.56958	D	0.05	-17.8172	14.0199	0.64547	0.0:0.0:1.0:0.0	.	417	Q7RTX7	CTSR4_HUMAN	Q	417	ENSP00000341006:E417Q;ENSP00000390423:E417Q	ENSP00000341006:E417Q	E	+	1	0	CATSPER4	26400481	0.985000	0.35326	0.148000	0.22405	0.033000	0.12548	3.495000	0.53280	2.393000	0.81446	0.313000	0.20887	GAG	CATSPER4	-	NULL	ENSG00000188782		0.592	CATSPER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CATSPER4	HGNC	protein_coding	OTTHUMT00000019849.2	45	0.00	0	G	NM_198137		26527894	26527894	+1	no_errors	ENST00000456354	ensembl	human	known	69_37n	missense	20	44.44	16	SNP	0.279	C
CAV1	857	genome.wustl.edu	37	7	116166580	116166580	+	Splice_Site	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:116166580G>C	ENST00000341049.2	+	2	310	c.32G>C	c.(31-33)gGa>gCa	p.G11A	CAV1_ENST00000393468.1_5'UTR|CAV1_ENST00000393467.1_5'UTR|CAV1_ENST00000405348.1_5'UTR|CAV1_ENST00000393470.1_Intron	NM_001753.4	NP_001744.2	Q03135	CAV1_HUMAN	caveolin 1, caveolae protein, 22kDa	11					angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion transport (GO:0006816)|caveola assembly (GO:0070836)|caveolin-mediated endocytosis (GO:0072584)|cellular calcium ion homeostasis (GO:0006874)|cellular response to hyperoxia (GO:0071455)|cellular response to starvation (GO:0009267)|cholesterol homeostasis (GO:0042632)|cholesterol transport (GO:0030301)|cytosolic calcium ion homeostasis (GO:0051480)|inactivation of MAPK activity (GO:0000188)|lactation (GO:0007595)|leukocyte migration (GO:0050900)|lipid storage (GO:0019915)|maintenance of protein location in cell (GO:0032507)|mammary gland development (GO:0030879)|mammary gland involution (GO:0060056)|MAPK cascade (GO:0000165)|membrane depolarization (GO:0051899)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of pinocytosis (GO:0048550)|negative regulation of protein binding (GO:0032091)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|nitric oxide homeostasis (GO:0033484)|nitric oxide metabolic process (GO:0046209)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of vasoconstriction (GO:0045907)|protein homooligomerization (GO:0051260)|protein localization (GO:0008104)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)|regulation of blood coagulation (GO:0030193)|regulation of fatty acid metabolic process (GO:0019217)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidase activity (GO:0052547)|regulation of smooth muscle contraction (GO:0006940)|regulation of the force of heart contraction by chemical signal (GO:0003057)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to ischemia (GO:0002931)|response to progesterone (GO:0032570)|skeletal muscle tissue development (GO:0007519)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|vasculogenesis (GO:0001570)|vasoconstriction (GO:0042310)|vesicle organization (GO:0016050)|viral process (GO:0016032)	acrosomal membrane (GO:0002080)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|cell cortex (GO:0005938)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lipid particle (GO:0005811)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cholesterol binding (GO:0015485)|enzyme binding (GO:0019899)|nitric-oxide synthase binding (GO:0050998)|patched binding (GO:0005113)|peptidase activator activity (GO:0016504)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4	all_epithelial(6;1.42e-06)|Lung NSC(10;0.0056)|all_lung(10;0.00609)		STAD - Stomach adenocarcinoma(10;0.00878)			CCTCTGCAGGGACATCTCTAC	0.592											OREG0018273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													91.0	75.0	80.0					7																	116166580		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF125348	CCDS5767.1, CCDS55156.1	7q31	2006-02-09	2002-08-29		ENSG00000105974	ENSG00000105974			1527	protein-coding gene	gene with protein product		601047	"""caveolin 1, caveolae protein, 22kD"""	CAV		10087206	Standard	NM_001753		Approved		uc003vif.2	Q03135	OTTHUMG00000023413	ENST00000341049.2:c.31-1G>C	7.37:g.116166580G>C		Somatic	1471	WXS	Illumina GAIIx	Phase_IV	Q9UGP1|Q9UNG1|Q9UQH6	Missense_Mutation	SNP	pfam_Caveolin	p.G11A	ENST00000341049.2	37	c.32	CCDS5767.1	7	.	.	.	.	.	.	.	.	.	.	G	16.79	3.221134	0.58560	.	.	ENSG00000105974	ENST00000341049	D	0.92805	-3.11	5.26	5.26	0.73747	.	0.176980	0.49305	D	0.000144	D	0.89301	0.6676	L	0.56769	1.78	0.80722	D	1	B	0.11235	0.004	B	0.10450	0.005	D	0.85807	0.1377	10	0.66056	D	0.02	0.2134	9.6674	0.39992	0.0784:0.1441:0.7775:0.0	.	11	Q03135	CAV1_HUMAN	A	11	ENSP00000339191:G11A	ENSP00000339191:G11A	G	+	2	0	CAV1	115953816	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.707000	0.68370	2.598000	0.87819	0.650000	0.86243	GGA	CAV1	-	NULL	ENSG00000105974		0.592	CAV1-001	KNOWN	basic|CCDS	protein_coding	CAV1	HGNC	protein_coding	OTTHUMT00000059734.4	34	0.00	0	G	NM_001753	Missense_Mutation	116166580	116166580	+1	no_errors	ENST00000341049	ensembl	human	known	69_37n	missense	41	37.88	25	SNP	1.000	C
CBS	875	genome.wustl.edu	37	21	44485530	44485530	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr21:44485530C>T	ENST00000398165.3	-	7	892	c.633G>A	c.(631-633)aaG>aaA	p.K211K	CBS_ENST00000398168.1_Silent_p.K211K|CBS_ENST00000352178.5_Silent_p.K211K|CBS_ENST00000544202.1_Silent_p.K123K|CBS_ENST00000398158.1_Silent_p.K211K|CBS_ENST00000470912.1_5'Flank|CBS_ENST00000359624.3_Silent_p.K211K	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase	211					cellular nitrogen compound metabolic process (GO:0034641)|cysteine biosynthetic process from serine (GO:0006535)|cysteine biosynthetic process via cystathionine (GO:0019343)|homocysteine catabolic process (GO:0043418)|homocysteine metabolic process (GO:0050667)|hydrogen sulfide biosynthetic process (GO:0070814)|L-cysteine catabolic process (GO:0019448)|L-serine catabolic process (GO:0006565)|L-serine metabolic process (GO:0006563)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|transsulfuration (GO:0019346)	cytosol (GO:0005829)|nucleus (GO:0005634)	adenyl nucleotide binding (GO:0030554)|cystathionine beta-synthase activity (GO:0004122)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|modified amino acid binding (GO:0072341)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|S-Adenosylmethionine(DB00118)	GGATTTCGTTCTTCAGCCGCC	0.632																																						dbGAP											0													64.0	68.0	67.0					21																	44485530		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L14577	CCDS13693.1	21q22.3	2014-09-17			ENSG00000160200	ENSG00000160200	4.2.1.22		1550	protein-coding gene	gene with protein product		613381				9790750	Standard	NM_000071		Approved	HIP4	uc002zcv.2	P35520	OTTHUMG00000086834	ENST00000398165.3:c.633G>A	21.37:g.44485530C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R993|D3DSK4|Q99425|Q9BWC5	Silent	SNP	pfam_PyrdxlP-dep_enz_bsu,pfam_Cysta_beta_synth_core,superfamily_PyrdxlP-dep_enz_bsu,smart_Cysta_beta_synth_core,tigrfam_Cysta_beta_synth	p.K211	ENST00000398165.3	37	c.633	CCDS13693.1	21																																																																																			CBS	-	pfam_PyrdxlP-dep_enz_bsu,superfamily_PyrdxlP-dep_enz_bsu,tigrfam_Cysta_beta_synth	ENSG00000160200		0.632	CBS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CBS	HGNC	protein_coding	OTTHUMT00000195525.1	27	0.00	0	C	NM_000071		44485530	44485530	-1	no_errors	ENST00000398168	ensembl	human	known	69_37n	silent	15	50.00	15	SNP	0.999	T
CBX4	8535	genome.wustl.edu	37	17	77809493	77809493	+	Silent	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:77809493C>A	ENST00000269397.4	-	4	375	c.198G>T	c.(196-198)ctG>ctT	p.L66L	CBX4_ENST00000448310.1_Nonstop_Mutation_p.*61L	NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	66	Chromo. {ECO:0000255|PROSITE- ProRule:PRU00053}.|Interaction with BMI1.				chromatin modification (GO:0016568)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|single-stranded RNA binding (GO:0003727)|SUMO binding (GO:0032183)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GATATCCCATCAGCTGCTCCT	0.622											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													69.0	53.0	58.0					17																	77809493		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AF013956	CCDS32758.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141582	ENSG00000141582			1554	protein-coding gene	gene with protein product	"""NS5ATP1-binding protein 16"", ""Pc class 2 homolog (Drosophila)"""	603079	"""chromobox homolog 4 (Drosophila Pc class)"""			9315667	Standard	NM_003655		Approved	hPC2, PC2, NBP16	uc002jxe.3	O00257	OTTHUMG00000150415	ENST00000269397.4:c.198G>T	17.37:g.77809493C>A		Somatic	1178	WXS	Illumina GAIIx	Phase_IV	B1PJR7|Q6TPI8|Q96C04	Missense_Mutation	SNP	NULL	p.D22Y	ENST00000269397.4	37	c.64	CCDS32758.1	17																																																																																			CBX4	-	NULL	ENSG00000141582		0.622	CBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBX4	HGNC	protein_coding	OTTHUMT00000318007.1	55	0.00	0	C	NM_003655		77809493	77809493	-1	no_start_codon:no_stop_codon:bad_bp_length_for_coding_region	ENST00000495122	ensembl	human	putative	69_37n	missense	28	24.32	9	SNP	1.000	A
CC2D1B	200014	genome.wustl.edu	37	1	52824941	52824941	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:52824941delA	ENST00000371586.2	-	10	1245	c.1107delT	c.(1105-1107)cctfs	p.P369fs	CC2D1B_ENST00000438831.1_5'UTR|CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000284376.3_Frame_Shift_Del_p.P369fs	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	369						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 negative regulation of transcription (GO:0001078)			breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						CTGGGACGTCAGGGGCCATCA	0.647																																						dbGAP											0													40.0	44.0	42.0					1																	52824941		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB058739	CCDS30714.1	1p32.3	2008-02-05			ENSG00000154222	ENSG00000154222			29386	protein-coding gene	gene with protein product						11347906	Standard	NM_032449		Approved	KIAA1836	uc001ctq.2	Q5T0F9	OTTHUMG00000008102	ENST00000371586.2:c.1107delT	1.37:g.52824941delA	ENSP00000360642:p.Pro369fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q49AE8|Q5T0F8|Q5T0G0|Q6ZNQ1|Q96AP3|Q96I04|Q96JJ1	Frame_Shift_Del	DEL	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DM14,smart_C2_Ca-dep	p.D370fs	ENST00000371586.2	37	c.1107	CCDS30714.1	1																																																																																			CC2D1B	-	NULL	ENSG00000154222		0.647	CC2D1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CC2D1B	HGNC	protein_coding	OTTHUMT00000022189.1	22	0.00	0	A	NM_032449		52824941	52824941	-1	no_errors	ENST00000371586	ensembl	human	known	69_37n	frame_shift_del	8	33.33	4	DEL	0.000	-
CC2D2A	57545	genome.wustl.edu	37	4	15559041	15559041	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:15559041C>T	ENST00000503292.1	+	22	2920	c.2740C>T	c.(2740-2742)Ctt>Ttt	p.L914F	CC2D2A_ENST00000424120.1_Missense_Mutation_p.L914F|CC2D2A_ENST00000413206.1_Missense_Mutation_p.L914F|CC2D2A_ENST00000389652.5_Missense_Mutation_p.L865F	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	914					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						ATTTAGGCTTCTTCATCTTAG	0.383																																						dbGAP											0													57.0	54.0	55.0					4																	15559041		1837	4079	5916	-	-	-	SO:0001583	missense	0			AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"""Meckel syndrome, type 6"""	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.2740C>T	4.37:g.15559041C>T	ENSP00000421809:p.Leu914Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Missense_Mutation	SNP	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	p.L914F	ENST00000503292.1	37	c.2740	CCDS47026.1	4	.	.	.	.	.	.	.	.	.	.	C	22.1	4.239815	0.79912	.	.	ENSG00000048342	ENST00000424120;ENST00000413206;ENST00000426932;ENST00000510333;ENST00000503292;ENST00000389652	T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67	4.79	4.79	0.61399	.	0.000000	0.64402	D	0.000001	D	0.84202	0.5420	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.86649	0.1897	10	0.87932	D	0	.	13.2516	0.60055	0.0:0.9209:0.0:0.0791	.	914;865	Q9P2K1;Q9P2K1-2	C2D2A_HUMAN;.	F	914;914;865;865;914;865	ENSP00000403465:L914F;ENSP00000398391:L914F;ENSP00000421809:L914F;ENSP00000374303:L865F	ENSP00000374303:L865F	L	+	1	0	CC2D2A	15168139	0.993000	0.37304	0.943000	0.38184	0.963000	0.63663	2.107000	0.41844	2.213000	0.71641	0.655000	0.94253	CTT	CC2D2A	-	NULL	ENSG00000048342		0.383	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CC2D2A	HGNC	protein_coding	OTTHUMT00000359906.2	92	0.00	0	C	NM_001080522		15559041	15559041	+1	no_errors	ENST00000413206	ensembl	human	known	69_37n	missense	50	19.35	12	SNP	1.000	T
CCBL1	883	genome.wustl.edu	37	9	131597799	131597799	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:131597799G>C	ENST00000302586.3	-	10	1165	c.1003C>G	c.(1003-1005)Cag>Gag	p.Q335E	CCBL1_ENST00000320665.6_Missense_Mutation_p.Q285E|CCBL1_ENST00000483599.1_5'UTR|CCBL1_ENST00000436267.2_Missense_Mutation_p.Q429E	NM_001122671.1|NM_004059.4	NP_001116143.1|NP_004050.3	Q16773	KAT1_HUMAN	cysteine conjugate-beta lyase, cytoplasmic	335					cellular amino acid biosynthetic process (GO:0008652)|cellular modified amino acid metabolic process (GO:0006575)|cellular nitrogen compound metabolic process (GO:0034641)|kynurenine metabolic process (GO:0070189)|L-kynurenine catabolic process (GO:0097053)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-S-conjugate beta-lyase activity (GO:0047804)|glutamine-phenylpyruvate transaminase activity (GO:0047316)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|L-glutamine:pyruvate aminotransferase activity (GO:0047945)|L-phenylalanine-oxaloacetate transaminase activity (GO:0036141)|L-phenylalanine:pyruvate aminotransferase activity (GO:0047312)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)	TAGCTGCCCTGAGGGATGATG	0.607																																						dbGAP											0													89.0	89.0	89.0					9																	131597799		2114	4245	6359	-	-	-	SO:0001583	missense	0			Y17448	CCDS43884.1, CCDS48038.1, CCDS75915.1	9q34.11	2008-03-11	2008-03-11		ENSG00000171097	ENSG00000171097	2.6.1.64		1564	protein-coding gene	gene with protein product	"""glutamine transaminase K"", ""kyneurenine aminotransferase"""	600547	"""cysteine conjugate-beta lyase; cytoplasmic (glutamine transaminase K, kyneurenine aminotransferase)"""			7883047	Standard	NM_001122671		Approved	KATI, GTK	uc004bwh.3	Q16773	OTTHUMG00000020767	ENST00000302586.3:c.1003C>G	9.37:g.131597799G>C	ENSP00000302227:p.Gln335Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T275|Q8N191	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,prints_ACC_synthase	p.Q429E	ENST00000302586.3	37	c.1285	CCDS43884.1	9	.	.	.	.	.	.	.	.	.	.	G	7.337	0.620022	0.14193	.	.	ENSG00000171097	ENST00000302586;ENST00000320665;ENST00000436267	D;D;D	0.91068	-2.78;-2.78;-2.78	5.36	5.36	0.76844	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.109607	0.64402	D	0.000006	T	0.81336	0.4801	N	0.13327	0.33	0.45621	D	0.998557	B;B;B;B	0.28439	0.212;0.019;0.067;0.019	B;B;B;B	0.32465	0.146;0.066;0.138;0.066	T	0.76575	-0.2909	10	0.02654	T	1	-19.4414	14.4732	0.67531	0.0:0.1585:0.8415:0.0	.	429;335;285;335	B7Z4W5;A8K563;Q16773-2;Q16773	.;.;.;KAT1_HUMAN	E	335;285;429	ENSP00000302227:Q335E;ENSP00000317342:Q285E;ENSP00000399415:Q429E	ENSP00000302227:Q335E	Q	-	1	0	CCBL1	130637620	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.046000	0.64226	2.504000	0.84457	0.436000	0.28706	CAG	CCBL1	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	ENSG00000171097		0.607	CCBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCBL1	HGNC	protein_coding	OTTHUMT00000054521.2	36	0.00	0	G			131597799	131597799	-1	no_errors	ENST00000436267	ensembl	human	known	69_37n	missense	39	20.41	10	SNP	0.997	C
CFAP36	112942	genome.wustl.edu	37	2	55764623	55764623	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:55764623C>T	ENST00000349456.4	+	7	690	c.542C>T	c.(541-543)tCa>tTa	p.S181L	CCDC104_ENST00000339012.3_Missense_Mutation_p.S206L|CCDC104_ENST00000407816.3_Missense_Mutation_p.S181L|CCDC104_ENST00000406691.3_Missense_Mutation_p.S181L|CCDC104_ENST00000490934.1_3'UTR			Q96G28	CFA36_HUMAN		181										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CTGAAGTTATCAGAGGCTAAA	0.353																																						dbGAP											0													80.0	87.0	85.0					2																	55764623		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000349456.4:c.542C>T	2.37:g.55764623C>T	ENSP00000295117:p.Ser181Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53SF0|Q53ST9|Q6UY34	Missense_Mutation	SNP	pfam_ARF-like_2-bdp_dom	p.S206L	ENST00000349456.4	37	c.617	CCDS1854.2	2	.	.	.	.	.	.	.	.	.	.	C	13.67	2.305205	0.40795	.	.	ENSG00000163001	ENST00000339012;ENST00000406691;ENST00000349456;ENST00000407816	T;T;T;T	0.32753	2.17;1.44;2.19;2.21	5.13	3.33	0.38152	.	1.385600	0.04140	N	0.319483	T	0.24890	0.0604	N	0.22421	0.69	0.80722	D	1	B;B	0.15141	0.011;0.012	B;B	0.18561	0.009;0.022	T	0.05500	-1.0881	10	0.45353	T	0.12	.	8.0733	0.30701	0.0:0.8287:0.0:0.1713	.	181;206	Q96G28;Q96G28-2	CC104_HUMAN;.	L	206;181;181;181	ENSP00000342699:S206L;ENSP00000385400:S181L;ENSP00000295117:S181L;ENSP00000385376:S181L	ENSP00000342699:S206L	S	+	2	0	CCDC104	55618127	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	2.149000	0.42244	0.862000	0.35528	0.655000	0.94253	TCA	CCDC104	-	NULL	ENSG00000163001		0.353	CCDC104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC104	HGNC	protein_coding	OTTHUMT00000319610.2	47	0.00	0	C			55764623	55764623	+1	no_errors	ENST00000339012	ensembl	human	known	69_37n	missense	56	12.50	8	SNP	0.998	T
PRIMPOL	201973	genome.wustl.edu	37	4	185593377	185593377	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:185593377G>A	ENST00000314970.6	+	7	1040	c.607G>A	c.(607-609)Gaa>Aaa	p.E203K	PRIMPOL_ENST00000512834.1_Missense_Mutation_p.E203K|PRIMPOL_ENST00000503752.1_Missense_Mutation_p.E203K|PRIMPOL_ENST00000515774.1_Missense_Mutation_p.E74K	NM_152683.2	NP_689896	Q96LW4	PRIPO_HUMAN	primase and polymerase (DNA-directed)	203					mitochondrial DNA replication (GO:0006264)|replication fork processing (GO:0031297)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)	mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA primase activity (GO:0003896)|DNA-directed DNA polymerase activity (GO:0003887)|manganese ion binding (GO:0030145)										GCTTGGCAGTGAAGATGATGA	0.408																																						dbGAP											0													92.0	100.0	97.0					4																	185593377		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK057729	CCDS3837.1, CCDS75211.1, CCDS75212.1	4q35.1	2013-09-27	2013-09-27	2013-09-27	ENSG00000164306	ENSG00000164306			26575	protein-coding gene	gene with protein product		615421	"""coiled-coil domain containing 111"""	CCDC111		12477932	Standard	XM_005262814		Approved	FLJ33167	uc003iwk.2	Q96LW4	OTTHUMG00000160495	ENST00000314970.6:c.607G>A	4.37:g.185593377G>A	ENSP00000313816:p.Glu203Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DP55|D6RDM1|Q5HYJ9	Missense_Mutation	SNP	pfam_DNA_primase_UL52/UL70_Herpvir,pfam_DNA_primase_S	p.E203K	ENST00000314970.6	37	c.607	CCDS3837.1	4	.	.	.	.	.	.	.	.	.	.	G	6.072	0.381625	0.11524	.	.	ENSG00000164306	ENST00000314970;ENST00000515774;ENST00000503752;ENST00000512834	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	5.39	1.41	0.22369	.	0.739381	0.13976	N	0.349845	T	0.16642	0.0400	L	0.31420	0.93	0.09310	N	1	B;B;B	0.17465	0.022;0.01;0.002	B;B;B	0.17433	0.018;0.018;0.018	T	0.32188	-0.9916	10	0.09338	T	0.73	0.0832	4.94	0.13960	0.3315:0.1594:0.5091:0.0	.	74;203;203	D3DP56;Q96LW4;D6RDM1	.;CC111_HUMAN;.	K	203;74;203;203	ENSP00000313816:E203K;ENSP00000421913:E74K;ENSP00000420860:E203K;ENSP00000425316:E203K	ENSP00000313816:E203K	E	+	1	0	CCDC111	185830371	0.973000	0.33851	0.020000	0.16555	0.001000	0.01503	2.506000	0.45433	0.391000	0.25143	-0.300000	0.09419	GAA	CCDC111	-	pfam_DNA_primase_S	ENSG00000164306		0.408	PRIMPOL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC111	HGNC	protein_coding	OTTHUMT00000360827.1	94	0.00	0	G	NM_152683		185593377	185593377	+1	no_errors	ENST00000314970	ensembl	human	known	69_37n	missense	64	17.95	14	SNP	0.001	A
CCDC116	164592	genome.wustl.edu	37	22	21989373	21989373	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:21989373G>C	ENST00000292779.3	+	4	1182	c.1021G>C	c.(1021-1023)Gag>Cag	p.E341Q	CCDC116_ENST00000607942.1_Missense_Mutation_p.E341Q	NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	341										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					CACCAGCTTGGAGCCCACCTC	0.672																																						dbGAP											0													36.0	38.0	37.0					22																	21989373		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC033499	CCDS13791.1	22q11.21	2006-06-27			ENSG00000161180	ENSG00000161180			26688	protein-coding gene	gene with protein product						12477932	Standard	NM_152612		Approved	FLJ36046	uc002zve.3	Q8IYX3	OTTHUMG00000150821	ENST00000292779.3:c.1021G>C	22.37:g.21989373G>C	ENSP00000292779:p.Glu341Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N9Y9	Missense_Mutation	SNP	NULL	p.E341Q	ENST00000292779.3	37	c.1021	CCDS13791.1	22	.	.	.	.	.	.	.	.	.	.	G	11.02	1.517202	0.27123	.	.	ENSG00000161180	ENST00000292779	T	0.15256	2.44	4.39	-0.158	0.13383	.	0.872683	0.09836	N	0.749529	T	0.23965	0.0580	L	0.46157	1.445	0.09310	N	1	D;B	0.61697	0.99;0.346	P;B	0.58077	0.832;0.089	T	0.15492	-1.0435	10	0.72032	D	0.01	-36.8717	4.1023	0.10018	0.2954:0.1728:0.5318:0.0	.	341;341	B7Z7H5;Q8IYX3-2	.;.	Q	341	ENSP00000292779:E341Q	ENSP00000292779:E341Q	E	+	1	0	CCDC116	20319373	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.574000	0.05868	-0.008000	0.14320	-1.157000	0.01802	GAG	CCDC116	-	NULL	ENSG00000161180		0.672	CCDC116-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC116	HGNC	protein_coding	OTTHUMT00000320199.1	26	0.00	0	G	NM_152612		21989373	21989373	+1	no_errors	ENST00000292779	ensembl	human	known	69_37n	missense	26	35.00	14	SNP	0.000	C
CCDC13	152206	genome.wustl.edu	37	3	42793468	42793468	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:42793468C>G	ENST00000310232.6	-	5	646	c.563G>C	c.(562-564)gGa>gCa	p.G188A	CCDC13_ENST00000435327.2_5'UTR	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	188										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						TGGCTTGGCTCCTGCGTCGGT	0.597																																						dbGAP											0													78.0	73.0	75.0					3																	42793468		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.563G>C	3.37:g.42793468C>G	ENSP00000309836:p.Gly188Ala	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	superfamily_Prefoldin	p.G188A	ENST00000310232.6	37	c.563	CCDS2705.1	3	.	.	.	.	.	.	.	.	.	.	C	1.817	-0.473198	0.04445	.	.	ENSG00000244607	ENST00000310232	T	0.22336	1.96	4.01	3.14	0.36123	.	0.648242	0.16551	N	0.209491	T	0.14313	0.0346	L	0.41710	1.295	0.09310	N	1	B;B;B	0.30146	0.27;0.019;0.011	B;B;B	0.32533	0.147;0.035;0.019	T	0.25502	-1.0130	10	0.06757	T	0.87	.	7.6335	0.28253	0.0:0.8857:0.0:0.1143	.	188;188;188	B4DZD2;Q96LI1;Q8IYE1	.;.;CCD13_HUMAN	A	188	ENSP00000309836:G188A	ENSP00000309836:G188A	G	-	2	0	CCDC13	42768472	0.771000	0.28555	0.115000	0.21578	0.017000	0.09413	0.854000	0.27791	1.258000	0.44101	0.655000	0.94253	GGA	CCDC13	-	NULL	ENSG00000244607		0.597	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC13	HGNC	protein_coding	OTTHUMT00000256652.1	57	0.00	0	C	NM_144719		42793468	42793468	-1	no_errors	ENST00000310232	ensembl	human	known	69_37n	missense	30	30.23	13	SNP	0.140	G
CCDC14	64770	genome.wustl.edu	37	3	123674921	123674921	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:123674921C>G	ENST00000488653.2	-	4	435	c.345G>C	c.(343-345)ctG>ctC	p.L115L	CCDC14_ENST00000433542.2_Silent_p.L115L|CCDC14_ENST00000485727.1_5'UTR|CCDC14_ENST00000489746.1_5'UTR|CCDC14_ENST00000483247.1_Intron			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	115					substantia nigra development (GO:0021762)	centrosome (GO:0005813)				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		AAATGTCCCTCAGCAAAGAAG	0.308																																						dbGAP											0													119.0	115.0	116.0					3																	123674921		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AL122079	CCDS3025.2	3q21.1	2014-03-20			ENSG00000175455	ENSG00000175455			25766	protein-coding gene	gene with protein product						12477932	Standard	NM_022757		Approved	FLJ12892, DKFZp434L1050	uc010hrt.3	Q49A88	OTTHUMG00000153005	ENST00000488653.2:c.345G>C	3.37:g.123674921C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z2T2|B8ZZ41|B8ZZ58|D3DN98|Q7Z3N3|Q86T30|Q8IWF8|Q8WUJ8|Q96K47|Q9H9A3|Q9UFH0	Silent	SNP	NULL	p.L115	ENST00000488653.2	37	c.345		3																																																																																			CCDC14	-	NULL	ENSG00000175455		0.308	CCDC14-202	KNOWN	basic|appris_candidate_longest	protein_coding	CCDC14	HGNC	protein_coding		174	0.00	0	C	NM_022757		123674921	123674921	-1	no_errors	ENST00000488653	ensembl	human	known	69_37n	silent	120	18.37	27	SNP	1.000	G
CCDC142	84865	genome.wustl.edu	37	2	74708188	74708188	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:74708188G>C	ENST00000393965.3	-	4	1680	c.1284C>G	c.(1282-1284)ctC>ctG	p.L428L	TTC31_ENST00000233623.5_5'Flank|TTC31_ENST00000410003.1_5'Flank|TTC31_ENST00000442235.2_5'Flank|CCDC142_ENST00000290418.4_Silent_p.L421L|CCDC142_ENST00000471713.1_5'UTR	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	428										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						GAAGGGTACAGAGACCTAGGG	0.547																																						dbGAP											0													50.0	51.0	51.0					2																	74708188		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK075543	CCDS1945.1	2p13.1	2008-02-05			ENSG00000135637	ENSG00000135637			25889	protein-coding gene	gene with protein product							Standard	NM_032779		Approved	FLJ14397	uc002slq.3	Q17RM4	OTTHUMG00000129962	ENST00000393965.3:c.1284C>G	2.37:g.74708188G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZKV5|Q8NBJ3|Q8NBV2|Q96KA7	Missense_Mutation	SNP	NULL	p.S330C	ENST00000393965.3	37	c.989		2																																																																																			CCDC142	-	NULL	ENSG00000135637		0.547	CCDC142-003	KNOWN	basic	protein_coding	CCDC142	HGNC	protein_coding	OTTHUMT00000328391.1	23	0.00	0	G	NM_032779		74708188	74708188	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000454193	ensembl	human	known	69_37n	missense	32	23.81	10	SNP	0.995	C
CCDC144CP	348254	genome.wustl.edu	37	17	20239220	20239220	+	RNA	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:20239220G>C	ENST00000340196.4	+	0	644							Q8IYA2	C144C_HUMAN	coiled-coil domain containing 144C, pseudogene																		GATGATAAATGTCCATCTGTA	0.388																																						dbGAP											0																																										-	-	-			0					17p11.2	2013-03-14	2013-03-14	2013-03-14	ENSG00000154898	ENSG00000154898			29073	pseudogene	pseudogene			"""coiled-coil domain containing 144C"""	CCDC144C		11997339	Standard	NR_023380		Approved		uc010cqy.1	Q8IYA2	OTTHUMG00000059513		17.37:g.20239220G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B7WNP5	RNA	SNP	-	NULL	ENST00000340196.4	37	NULL		17	.	.	.	.	.	.	.	.	.	.	.	2.409	-0.335734	0.05278	.	.	ENSG00000154898	ENST00000340196;ENST00000425519	.	.	.	2.15	-0.347	0.12617	.	.	.	.	.	T	0.33235	0.0856	.	.	.	0.24658	N	0.993483	.	.	.	.	.	.	T	0.40194	-0.9576	4	0.42905	T	0.14	.	3.7636	0.08613	0.5285:0.0:0.4715:0.0	.	.	.	.	S	164	.	ENSP00000343605:C164S	C	+	2	0	CCDC144C	20179812	0.000000	0.05858	0.014000	0.15608	0.011000	0.07611	-0.410000	0.07151	0.100000	0.17581	0.306000	0.20318	TGT	CCDC144C	-	-	ENSG00000154898		0.388	CCDC144CP-001	KNOWN	basic	processed_transcript	CCDC144C	HGNC	pseudogene	OTTHUMT00000132378.2	92	0.00	0	G	NR_023380		20239220	20239220	+1	no_errors	ENST00000340196	ensembl	human	known	69_37n	rna	56	35.63	31	SNP	0.003	C
CFAP58	159686	genome.wustl.edu	37	10	106207522	106207522	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:106207522G>A	ENST00000369704.3	+	16	2457	c.2323G>A	c.(2323-2325)Gaa>Aaa	p.E775K		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		775						extracellular space (GO:0005615)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		TGAGGCTGCGGAACAGCTGAA	0.557																																						dbGAP											0													54.0	51.0	52.0					10																	106207522		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000369704.3:c.2323G>A	10.37:g.106207522G>A	ENSP00000358718:p.Glu775Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DRA6|Q8NA27	Missense_Mutation	SNP	superfamily_Homeodomain-like	p.E775K	ENST00000369704.3	37	c.2323	CCDS31282.1	10	.	.	.	.	.	.	.	.	.	.	G	27.9	4.874486	0.91664	.	.	ENSG00000120051	ENST00000369704	T	0.53206	0.63	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.65322	0.2680	M	0.80028	2.48	0.80722	D	1	D	0.53312	0.959	P	0.58210	0.835	T	0.62343	-0.6874	10	0.11794	T	0.64	-19.1168	19.1767	0.93605	0.0:0.0:1.0:0.0	.	775	Q5T655	CC147_HUMAN	K	775	ENSP00000358718:E775K	ENSP00000358718:E775K	E	+	1	0	CCDC147	106197512	1.000000	0.71417	0.873000	0.34254	0.501000	0.33797	8.216000	0.89764	2.508000	0.84585	0.655000	0.94253	GAA	CCDC147	-	superfamily_Homeodomain-like	ENSG00000120051		0.557	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC147	HGNC	protein_coding	OTTHUMT00000050216.1	30	0.00	0	G			106207522	106207522	+1	no_errors	ENST00000369704	ensembl	human	known	69_37n	missense	16	27.27	6	SNP	0.999	A
CCDC15	80071	genome.wustl.edu	37	11	124875068	124875068	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:124875068G>C	ENST00000344762.5	+	13	2630	c.2371G>C	c.(2371-2373)Gaa>Caa	p.E791Q	CCDC15_ENST00000529051.1_Missense_Mutation_p.E791Q	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	791						centrosome (GO:0005813)				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		ACAAGTTAAAGAACAACAAAG	0.328																																						dbGAP											0													42.0	36.0	38.0					11																	124875068		1817	4075	5892	-	-	-	SO:0001583	missense	0			BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548			25798	protein-coding gene	gene with protein product							Standard	NM_025004		Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000344762.5:c.2371G>C	11.37:g.124875068G>C	ENSP00000341684:p.Glu791Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H8U7	Missense_Mutation	SNP	NULL	p.E791Q	ENST00000344762.5	37	c.2371	CCDS44756.1	11	.	.	.	.	.	.	.	.	.	.	G	14.13	2.443172	0.43429	.	.	ENSG00000149548	ENST00000529051;ENST00000344762	T;T	0.68331	-0.32;0.6	5.23	4.29	0.51040	.	0.000000	0.39909	N	0.001227	T	0.69904	0.3163	M	0.65975	2.015	0.27058	N	0.963625	P	0.49358	0.923	P	0.47470	0.548	T	0.65606	-0.6127	10	0.40728	T	0.16	-18.8834	14.8399	0.70214	0.0:0.1453:0.8547:0.0	.	791	Q0P6D6	CCD15_HUMAN	Q	791	ENSP00000435403:E791Q;ENSP00000341684:E791Q	ENSP00000341684:E791Q	E	+	1	0	CCDC15	124380278	1.000000	0.71417	0.997000	0.53966	0.907000	0.53573	3.923000	0.56469	1.283000	0.44513	0.655000	0.94253	GAA	CCDC15	-	NULL	ENSG00000149548		0.328	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC15	HGNC	protein_coding	OTTHUMT00000387131.1	83	0.00	0	G	NM_025004		124875068	124875068	+1	no_errors	ENST00000344762	ensembl	human	known	69_37n	missense	40	29.82	17	SNP	1.000	C
CCDC150	284992	genome.wustl.edu	37	2	197511131	197511131	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:197511131G>A	ENST00000389175.4	+	2	214	c.79G>A	c.(79-81)Gaa>Aaa	p.E27K	CCDC150_ENST00000472405.2_Intron|CCDC150_ENST00000272831.7_5'UTR|CCDC150_ENST00000423093.2_5'UTR	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	27										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TACAGCTTCTGAAACATTCAC	0.418																																						dbGAP											0													159.0	148.0	152.0					2																	197511131		1927	4113	6040	-	-	-	SO:0001583	missense	0				CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.79G>A	2.37:g.197511131G>A	ENSP00000373827:p.Glu27Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P5U6|Q6P663|Q8N8V5	Missense_Mutation	SNP	NULL	p.E27K	ENST00000389175.4	37	c.79	CCDS46478.1	2	.	.	.	.	.	.	.	.	.	.	G	18.88	3.717890	0.68844	.	.	ENSG00000144395	ENST00000389175;ENST00000536389	T	0.33654	1.4	4.53	4.53	0.55603	.	0.071504	0.52532	D	0.000062	T	0.38799	0.1054	M	0.71581	2.175	0.80722	D	1	P;B	0.36535	0.557;0.157	B;B	0.35971	0.215;0.056	T	0.45131	-0.9282	10	0.72032	D	0.01	.	12.941	0.58345	0.0:0.0:1.0:0.0	.	27;27	Q8NCX0;F5H6M2	CC150_HUMAN;.	K	27	ENSP00000373827:E27K	ENSP00000373827:E27K	E	+	1	0	CCDC150	197219376	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.925000	0.48884	2.517000	0.84864	0.655000	0.94253	GAA	CCDC150	-	NULL	ENSG00000144395		0.418	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	CCDC150	HGNC	protein_coding	OTTHUMT00000335377.2	86	0.00	0	G	NM_001080539		197511131	197511131	+1	no_errors	ENST00000389175	ensembl	human	known	69_37n	missense	90	25.62	31	SNP	1.000	A
CCDC150	284992	genome.wustl.edu	37	2	197523537	197523537	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:197523537G>A	ENST00000389175.4	+	5	733	c.598G>A	c.(598-600)Gag>Aag	p.E200K	CCDC150_ENST00000472405.2_Missense_Mutation_p.E97K|CCDC150_ENST00000423093.2_Intron|CCDC150_ENST00000272831.7_5'UTR	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	200										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						CATTATTGAAGAGGAACTGAA	0.358																																						dbGAP											0													59.0	53.0	54.0					2																	197523537		1842	4078	5920	-	-	-	SO:0001583	missense	0				CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.598G>A	2.37:g.197523537G>A	ENSP00000373827:p.Glu200Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P5U6|Q6P663|Q8N8V5	Missense_Mutation	SNP	NULL	p.E200K	ENST00000389175.4	37	c.598	CCDS46478.1	2	.	.	.	.	.	.	.	.	.	.	G	24.1	4.492260	0.84962	.	.	ENSG00000144395	ENST00000389175;ENST00000536389;ENST00000472405	T;T	0.31769	1.62;1.48	4.41	4.41	0.53225	.	0.168208	0.37857	N	0.001918	T	0.47040	0.1424	L	0.56769	1.78	0.80722	D	1	P;D	0.69078	0.932;0.997	P;D	0.64042	0.655;0.921	T	0.26395	-1.0104	10	0.17832	T	0.49	-11.8878	16.2802	0.82672	0.0:0.0:1.0:0.0	.	200;200	Q8NCX0;F5H6M2	CC150_HUMAN;.	K	200;200;97	ENSP00000373827:E200K;ENSP00000441149:E97K	ENSP00000373827:E200K	E	+	1	0	CCDC150	197231782	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.963000	0.70372	2.442000	0.82660	0.557000	0.71058	GAG	CCDC150	-	NULL	ENSG00000144395		0.358	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	CCDC150	HGNC	protein_coding	OTTHUMT00000335377.2	111	0.00	0	G	NM_001080539		197523537	197523537	+1	no_errors	ENST00000389175	ensembl	human	known	69_37n	missense	73	41.60	52	SNP	1.000	A
CCDC150	284992	genome.wustl.edu	37	2	197538982	197538982	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:197538982G>C	ENST00000389175.4	+	10	1182	c.1047G>C	c.(1045-1047)ttG>ttC	p.L349F	CCDC150_ENST00000272831.7_Missense_Mutation_p.L17F|CCDC150_ENST00000472405.2_3'UTR|CCDC150_ENST00000423093.2_Missense_Mutation_p.L17F	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	349										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						ATGACCAATTGACTAAAAAGT	0.348																																						dbGAP											0													90.0	89.0	89.0					2																	197538982		1893	4118	6011	-	-	-	SO:0001583	missense	0				CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.1047G>C	2.37:g.197538982G>C	ENSP00000373827:p.Leu349Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P5U6|Q6P663|Q8N8V5	Missense_Mutation	SNP	NULL	p.L349F	ENST00000389175.4	37	c.1047	CCDS46478.1	2	.	.	.	.	.	.	.	.	.	.	G	11.90	1.776554	0.31411	.	.	ENSG00000144395	ENST00000272831;ENST00000389175;ENST00000423093	T	0.50001	0.76	5.17	3.33	0.38152	.	0.000000	0.50627	D	0.000107	T	0.60130	0.2245	M	0.62723	1.935	0.24928	N	0.991934	D;D	0.89917	0.999;1.0	D;D	0.87578	0.998;0.998	T	0.49351	-0.8949	10	0.44086	T	0.13	-5.6417	7.3765	0.26831	0.087:0.0:0.7412:0.1718	.	17;349	B4DZ03;Q8NCX0	.;CC150_HUMAN	F	17;349;17	ENSP00000373827:L349F	ENSP00000272831:L17F	L	+	3	2	CCDC150	197247227	0.950000	0.32346	0.092000	0.20876	0.065000	0.16274	0.578000	0.23773	0.714000	0.32081	0.591000	0.81541	TTG	CCDC150	-	NULL	ENSG00000144395		0.348	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	CCDC150	HGNC	protein_coding	OTTHUMT00000335377.2	152	0.00	0	G	NM_001080539		197538982	197538982	+1	no_errors	ENST00000389175	ensembl	human	known	69_37n	missense	151	16.57	30	SNP	0.443	C
CCDC153	283152	genome.wustl.edu	37	11	119061433	119061433	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:119061433C>T	ENST00000503566.2	-	5	465	c.466G>A	c.(466-468)Gag>Aag	p.E156K	CCDC153_ENST00000415318.1_Missense_Mutation_p.E156K			Q494R4	CC153_HUMAN	coiled-coil domain containing 153	156										lung(3)|stomach(1)	4						AAGATTTCCTCATACTTCGCC	0.607																																						dbGAP											0													78.0	74.0	75.0					11																	119061433		2200	4295	6495	-	-	-	SO:0001583	missense	0				CCDS44753.1	11q23.3	2011-07-22			ENSG00000248712	ENSG00000248712			27446	protein-coding gene	gene with protein product						12477932	Standard	NM_001145018		Approved	LOC283152	uc010rze.2	Q494R4	OTTHUMG00000156903	ENST00000503566.2:c.466G>A	11.37:g.119061433C>T	ENSP00000423567:p.Glu156Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	superfamily_t-SNARE	p.E156K	ENST00000503566.2	37	c.466	CCDS44753.1	11	.	.	.	.	.	.	.	.	.	.	C	15.61	2.883034	0.51908	.	.	ENSG00000248712	ENST00000503566;ENST00000415318	T;T	0.30981	1.51;1.51	4.52	2.61	0.31194	.	0.159432	0.42821	N	0.000651	T	0.30230	0.0758	M	0.78637	2.42	0.37908	D	0.931263	B	0.30709	0.291	B	0.26693	0.072	T	0.23583	-1.0184	10	0.72032	D	0.01	-5.3104	6.1067	0.20077	0.0:0.7059:0.1912:0.1029	.	156	Q494R4	CC153_HUMAN	K	156	ENSP00000423567:E156K;ENSP00000445431:E156K	ENSP00000445431:E156K	E	-	1	0	CCDC153	118566643	0.956000	0.32656	0.903000	0.35520	0.907000	0.53573	1.932000	0.40143	0.635000	0.30488	0.655000	0.94253	GAG	CCDC153	-	superfamily_t-SNARE	ENSG00000248712		0.607	CCDC153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC153	HGNC	protein_coding	OTTHUMT00000388331.2	44	0.00	0	C	NM_001033658		119061433	119061433	-1	no_errors	ENST00000415318	ensembl	human	known	69_37n	missense	39	23.53	12	SNP	0.952	T
CCDC168	643677	genome.wustl.edu	37	13	103386801	103386801	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr13:103386801G>C	ENST00000322527.2	-	1	2358	c.2359C>G	c.(2359-2361)Caa>Gaa	p.Q787E		NM_001146197.1	NP_001139669.1	Q8NDH2	CC168_HUMAN	coiled-coil domain containing 168	787																	GGTTTATCTTGACCTTCATGT	0.418																																						dbGAP											0													617.0	471.0	515.0					13																	103386801		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS73596.1	13q33.1	2014-06-17	2011-08-09	2011-08-09	ENSG00000175820	ENSG00000175820			26851	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 40"""	C13orf40			Standard	NM_001146197		Approved	FLJ40176	uc001vpm.3	Q8NDH2	OTTHUMG00000187287	ENST00000322527.2:c.2359C>G	13.37:g.103386801G>C	ENSP00000320232:p.Gln787Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N800	Missense_Mutation	SNP	NULL	p.Q787E	ENST00000322527.2	37	c.2359		13	.	.	.	.	.	.	.	.	.	.	G	14.57	2.573843	0.45902	.	.	ENSG00000175820	ENST00000322527	T	0.03524	3.9	3.76	0.724	0.18236	.	.	.	.	.	T	0.01976	0.0062	N	0.14661	0.345	0.09310	N	1	B	0.32573	0.376	B	0.27887	0.084	T	0.40079	-0.9582	9	0.02654	T	1	.	11.1331	0.48358	0.0:0.5722:0.4278:0.0	.	787	Q8NDH2	CC168_HUMAN	E	787	ENSP00000320232:Q787E	ENSP00000320232:Q787E	Q	-	1	0	CCDC168	102184802	0.000000	0.05858	0.000000	0.03702	0.572000	0.35998	-0.060000	0.11712	0.108000	0.17862	0.467000	0.42956	CAA	CCDC168	-	NULL	ENSG00000175820		0.418	CCDC168-201	KNOWN	basic|appris_principal	protein_coding	CCDC168	HGNC	protein_coding		320	0.00	0	G	NM_001146197		103386801	103386801	-1	no_errors	ENST00000322527	ensembl	human	known	69_37n	missense	135	50.55	138	SNP	0.000	C
CCDC168	643677	genome.wustl.edu	37	13	103388530	103388530	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr13:103388530G>A	ENST00000322527.2	-	1	629	c.630C>T	c.(628-630)ttC>ttT	p.F210F		NM_001146197.1	NP_001139669.1	Q8NDH2	CC168_HUMAN	coiled-coil domain containing 168	210																	GTGAAGGAGAGAATCTATGGT	0.413																																						dbGAP											0													126.0	100.0	108.0					13																	103388530		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0				CCDS73596.1	13q33.1	2014-06-17	2011-08-09	2011-08-09	ENSG00000175820	ENSG00000175820			26851	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 40"""	C13orf40			Standard	NM_001146197		Approved	FLJ40176	uc001vpm.3	Q8NDH2	OTTHUMG00000187287	ENST00000322527.2:c.630C>T	13.37:g.103388530G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N800	Silent	SNP	NULL	p.F210	ENST00000322527.2	37	c.630		13																																																																																			CCDC168	-	NULL	ENSG00000175820		0.413	CCDC168-201	KNOWN	basic|appris_principal	protein_coding	CCDC168	HGNC	protein_coding		142	0.00	0	G	NM_001146197		103388530	103388530	-1	no_errors	ENST00000322527	ensembl	human	known	69_37n	silent	42	66.67	84	SNP	0.000	A
CCDC173	129881	genome.wustl.edu	37	2	170510698	170510698	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:170510698G>C	ENST00000447353.1	-	6	951	c.846C>G	c.(844-846)atC>atG	p.I282M		NM_001085447.1	NP_001078916.1	Q0VFZ6	CC173_HUMAN	coiled-coil domain containing 173	282																	CTACAGCTTTGATAATATGTT	0.323																																						dbGAP											0													80.0	67.0	71.0					2																	170510698		1808	4079	5887	-	-	-	SO:0001583	missense	0			BC015980, BC117445	CCDS46445.1	2q31.1	2012-08-07	2012-08-07	2012-08-07	ENSG00000154479	ENSG00000154479			25064	protein-coding gene	gene with protein product	"""hypothetical LOC129881"""		"""chromosome 2 open reading frame 77"""	C2orf77		12477932	Standard	NM_001085447		Approved	LOC129881	uc002ufe.2	Q0VFZ6	OTTHUMG00000154116	ENST00000447353.1:c.846C>G	2.37:g.170510698G>C	ENSP00000391504:p.Ile282Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6PJF6	Missense_Mutation	SNP	NULL	p.I282M	ENST00000447353.1	37	c.846	CCDS46445.1	2	.	.	.	.	.	.	.	.	.	.	G	17.19	3.326233	0.60743	.	.	ENSG00000154479	ENST00000447353	T	0.09163	3.01	5.05	5.05	0.67936	.	2.846610	0.01755	N	0.030172	T	0.32912	0.0845	L	0.52011	1.625	0.31470	N	0.668447	D	0.67145	0.996	D	0.68039	0.955	T	0.18493	-1.0335	10	0.33141	T	0.24	.	16.2675	0.82597	0.0:0.0:1.0:0.0	.	282	Q0VFZ6	CB077_HUMAN	M	282	ENSP00000391504:I282M	ENSP00000391504:I282M	I	-	3	3	C2orf77	170218944	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	1.553000	0.36255	2.502000	0.84385	0.591000	0.81541	ATC	CCDC173	-	NULL	ENSG00000154479		0.323	CCDC173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC173	HGNC	protein_coding	OTTHUMT00000333954.2	182	0.00	0	G	NM_001085447		170510698	170510698	-1	no_errors	ENST00000447353	ensembl	human	known	69_37n	missense	242	15.68	45	SNP	1.000	C
CCDC18	343099	genome.wustl.edu	37	1	93722092	93722092	+	Silent	SNP	G	G	A	rs373889271		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:93722092G>A	ENST00000343253.7	+	25	4042	c.3540G>A	c.(3538-3540)gaG>gaA	p.E1180E	CCDC18_ENST00000557479.1_Silent_p.E1299E|CCDC18_ENST00000401026.3_Silent_p.E1181E|CCDC18_ENST00000338949.4_3'UTR|CCDC18_ENST00000334652.5_3'UTR			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	1180										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TCTCTAAAGAGAAAGTAATCC	0.333																																						dbGAP											0													53.0	52.0	52.0					1																	93722092		1816	4075	5891	-	-	-	SO:0001819	synonymous_variant	0					1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.3540G>A	1.37:g.93722092G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZU17	Missense_Mutation	SNP	superfamily_Prefoldin	p.R1234K	ENST00000343253.7	37	c.3701		1	.	.	.	.	.	.	.	.	.	.	G	7.537	0.659791	0.14645	.	.	ENSG00000122483	ENST00000370276	.	.	.	5.31	-1.73	0.08081	.	.	.	.	.	T	0.41488	0.1161	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44907	-0.9297	4	.	.	.	.	10.653	0.45659	0.6097:0.0:0.3903:0.0	.	.	.	.	K	1234	.	.	R	+	2	0	CCDC18	93494680	0.968000	0.33430	0.988000	0.46212	0.942000	0.58702	-0.127000	0.10547	-0.386000	0.07821	-0.150000	0.13652	AGA	CCDC18	-	NULL	ENSG00000122483		0.333	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	CCDC18	HGNC	protein_coding	OTTHUMT00000382327.1	40	0.00	0	G	NM_206886		93722092	93722092	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000370276	ensembl	human	novel	69_37n	missense	28	17.65	6	SNP	0.980	A
CCDC3	83643	genome.wustl.edu	37	10	12940514	12940514	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:12940514C>A	ENST00000378825.3	-	3	841	c.715G>T	c.(715-717)Gag>Tag	p.E239*	CCDC3_ENST00000378839.1_Nonsense_Mutation_p.E114*	NM_031455.3	NP_113643.1	Q9BQI4	CCDC3_HUMAN	coiled-coil domain containing 3	239						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	11		Ovarian(717;0.0822)	BRCA - Breast invasive adenocarcinoma(52;0.163)			TTCGCCAGCTCCAGGTGGCGG	0.682																																						dbGAP											0													50.0	54.0	52.0					10																	12940514		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC051334	CCDS7093.1, CCDS60484.1	10p14	2004-02-13			ENSG00000151468	ENSG00000151468			23813	protein-coding gene	gene with protein product							Standard	NM_031455		Approved	DKFZp761F241	uc001ilq.1	Q9BQI4	OTTHUMG00000017689	ENST00000378825.3:c.715G>T	10.37:g.12940514C>A	ENSP00000368102:p.Glu239*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VYV8|Q5VYV9	Nonsense_Mutation	SNP	NULL	p.E239*	ENST00000378825.3	37	c.715	CCDS7093.1	10	.	.	.	.	.	.	.	.	.	.	C	37	6.273350	0.97431	.	.	ENSG00000151468	ENST00000378839;ENST00000378825	.	.	.	5.42	4.5	0.54988	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-17.2797	15.2947	0.73894	0.0:0.8596:0.1404:0.0	.	.	.	.	X	114;239	.	ENSP00000368102:E239X	E	-	1	0	CCDC3	12980520	1.000000	0.71417	0.999000	0.59377	0.958000	0.62258	2.771000	0.47670	1.278000	0.44430	0.561000	0.74099	GAG	CCDC3	-	NULL	ENSG00000151468		0.682	CCDC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC3	HGNC	protein_coding	OTTHUMT00000046829.1	21	0.00	0	C	NM_031455		12940514	12940514	-1	no_errors	ENST00000378825	ensembl	human	known	69_37n	nonsense	26	21.21	7	SNP	1.000	A
CCDC30	728621	genome.wustl.edu	37	1	43111899	43111899	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:43111899G>A	ENST00000340612.4	+	13	1984	c.1984G>A	c.(1984-1986)Gag>Aag	p.E662K	CCDC30_ENST00000428554.2_Missense_Mutation_p.E662K|CCDC30_ENST00000342022.4_Missense_Mutation_p.E662K|CCDC30_ENST00000507855.1_Missense_Mutation_p.E451K|CCDC30_ENST00000390640.4_Missense_Mutation_p.E451K			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	662						extracellular vesicular exosome (GO:0070062)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						atacagcactgaggtcttcac	0.458																																						dbGAP											0													45.0	39.0	41.0					1																	43111899		2156	4222	6378	-	-	-	SO:0001583	missense	0			AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"""prefoldin 6-like"""					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000340612.4:c.1984G>A	1.37:g.43111899G>A	ENSP00000340378:p.Glu662Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14F06|Q5VVM5	Missense_Mutation	SNP	NULL	p.E662K	ENST00000340612.4	37	c.1984	CCDS30690.1	1	.	.	.	.	.	.	.	.	.	.	G	0.191	-1.052877	0.01965	.	.	ENSG00000186409	ENST00000428554;ENST00000507855;ENST00000340612;ENST00000342022;ENST00000390640	T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17	0.427	0.427	0.16489	.	.	.	.	.	T	0.20088	0.0483	N	0.22421	0.69	0.09310	N	1	B;B	0.31655	0.334;0.01	B;B	0.20384	0.029;0.002	T	0.16158	-1.0412	8	0.72032	D	0.01	.	.	.	.	.	662;451	Q5VVM6;Q5VVM6-2	CCD30_HUMAN;.	K	662;451;662;662;451	ENSP00000397035:E662K;ENSP00000426711:E451K;ENSP00000340378:E662K;ENSP00000339280:E662K;ENSP00000375051:E451K	ENSP00000340378:E662K	E	+	1	0	CCDC30	42884486	0.007000	0.16637	0.017000	0.16124	0.017000	0.09413	0.648000	0.24828	0.458000	0.26988	0.467000	0.42956	GAG	CCDC30	-	NULL	ENSG00000186409		0.458	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC30	HGNC	protein_coding	OTTHUMT00000019524.3	82	0.00	0	G	NM_025030		43111899	43111899	+1	no_errors	ENST00000340612	ensembl	human	known	69_37n	missense	48	30.43	21	SNP	0.021	A
CCDC34	91057	genome.wustl.edu	37	11	27360465	27360465	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:27360465C>G	ENST00000328697.6	-	6	1698	c.1025G>C	c.(1024-1026)aGa>aCa	p.R342T	CCDC34_ENST00000529615.1_5'UTR	NM_030771.1	NP_110398.1	Q96HJ3	CCD34_HUMAN	coiled-coil domain containing 34	342										endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1)	9						TATCACAGGTCTTTTACTCTT	0.423																																						dbGAP											0													172.0	154.0	160.0					11																	27360465		2202	4299	6501	-	-	-	SO:0001583	missense	0			AF382034	CCDS7863.1, CCDS31448.1	11p14.1	2010-03-30			ENSG00000109881	ENSG00000109881			25079	protein-coding gene	gene with protein product		612324				11173847	Standard	NM_080654		Approved	NY-REN-41, L15, RAMA3	uc001mrh.1	Q96HJ3	OTTHUMG00000166211	ENST00000328697.6:c.1025G>C	11.37:g.27360465C>G	ENSP00000330240:p.Arg342Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8G2|Q8IX69|Q9H2A6|Q9Y599	Missense_Mutation	SNP	NULL	p.R342T	ENST00000328697.6	37	c.1025	CCDS31448.1	11	.	.	.	.	.	.	.	.	.	.	C	15.72	2.917573	0.52546	.	.	ENSG00000109881	ENST00000328697	T	0.10288	2.89	5.75	4.84	0.62591	.	0.186374	0.35067	N	0.003466	T	0.16171	0.0389	L	0.34521	1.04	0.80722	D	1	D	0.54047	0.964	P	0.52672	0.706	T	0.00995	-1.1487	10	0.62326	D	0.03	-6.2109	13.4994	0.61445	0.0:0.9239:0.0:0.0761	.	342	Q96HJ3	CCD34_HUMAN	T	342	ENSP00000330240:R342T	ENSP00000330240:R342T	R	-	2	0	CCDC34	27317041	1.000000	0.71417	0.473000	0.27253	0.387000	0.30353	2.119000	0.41958	1.443000	0.47586	0.580000	0.79431	AGA	CCDC34	-	NULL	ENSG00000109881		0.423	CCDC34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC34	HGNC	protein_coding	OTTHUMT00000388396.2	127	0.00	0	C	NM_030771		27360465	27360465	-1	no_errors	ENST00000328697	ensembl	human	known	69_37n	missense	115	37.84	70	SNP	0.938	G
CCDC38	120935	genome.wustl.edu	37	12	96284624	96284624	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:96284624C>T	ENST00000344280.3	-	9	1414	c.857G>A	c.(856-858)gGa>gAa	p.G286E	SNRPF_ENST00000552085.1_Intron	NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	286										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCTGTCTCTTCCCTGAGAAGC	0.453																																						dbGAP											0													92.0	83.0	86.0					12																	96284624		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK097408	CCDS9056.1	12q23.1	2005-11-02				ENSG00000165972			26843	protein-coding gene	gene with protein product							Standard	NM_182496		Approved	FLJ40089	uc001tek.2	Q502W7	OTTHUMG00000170352	ENST00000344280.3:c.857G>A	12.37:g.96284624C>T	ENSP00000345470:p.Gly286Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N835	Missense_Mutation	SNP	NULL	p.G286E	ENST00000344280.3	37	c.857	CCDS9056.1	12	.	.	.	.	.	.	.	.	.	.	C	0.007	-2.014602	0.00422	.	.	ENSG00000165972	ENST00000344280	T	0.31510	1.49	3.77	-4.69	0.03299	.	2.382730	0.01476	N	0.016460	T	0.10594	0.0259	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20107	-1.0285	10	0.02654	T	1	0.0607	0.4075	0.00436	0.267:0.2474:0.1313:0.3543	.	286	Q502W7	CCD38_HUMAN	E	286	ENSP00000345470:G286E	ENSP00000345470:G286E	G	-	2	0	CCDC38	94808755	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.798000	0.04565	-1.092000	0.03062	-2.225000	0.00294	GGA	CCDC38	-	NULL	ENSG00000165972		0.453	CCDC38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC38	HGNC	protein_coding	OTTHUMT00000408634.1	102	0.00	0	C	NM_182496		96284624	96284624	-1	no_errors	ENST00000344280	ensembl	human	known	69_37n	missense	95	19.49	23	SNP	0.000	T
CCDC39	339829	genome.wustl.edu	37	3	180334334	180334334	+	Silent	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:180334334G>T	ENST00000442201.2	-	18	2675	c.2556C>A	c.(2554-2556)atC>atA	p.I852I	TTC14_ENST00000382584.4_Intron|CCDC39_ENST00000273654.4_3'UTR	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	852					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GGATAATACGGATCTCAGTAT	0.284																																						dbGAP											0													61.0	56.0	58.0					3																	180334334		1822	4067	5889	-	-	-	SO:0001819	synonymous_variant	0			BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.2556C>A	3.37:g.180334334G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E2H1	Missense_Mutation	SNP	NULL	p.S36Y	ENST00000442201.2	37	c.107	CCDS46964.1	3	.	.	.	.	.	.	.	.	.	.	G	1.330	-0.597058	0.03771	.	.	ENSG00000145075	ENST00000473854	.	.	.	5.37	-0.077	0.13720	.	.	.	.	.	T	0.44623	0.1302	.	.	.	0.39026	D	0.95984	.	.	.	.	.	.	T	0.32268	-0.9913	4	.	.	.	.	4.5693	0.12202	0.2562:0.0:0.2971:0.4468	.	.	.	.	Y	36	.	.	S	-	2	0	CCDC39	181817028	0.048000	0.20356	0.002000	0.10522	0.422000	0.31414	0.242000	0.18087	0.091000	0.17302	-0.321000	0.08615	TCC	CCDC39	-	NULL	ENSG00000145075		0.284	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC39	HGNC	protein_coding	OTTHUMT00000349783.3	88	0.00	0	G	XM_291028		180334334	180334334	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000473854	ensembl	human	putative	69_37n	missense	100	17.36	21	SNP	0.008	T
CCDC39	339829	genome.wustl.edu	37	3	180334472	180334472	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:180334472G>A	ENST00000442201.2	-	18	2537	c.2418C>T	c.(2416-2418)ctC>ctT	p.L806L	TTC14_ENST00000382584.4_Intron|CCDC39_ENST00000273654.4_3'UTR	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	806					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TTTCCTTTGTGAGTTTTGCAC	0.308																																						dbGAP											0													71.0	62.0	65.0					3																	180334472		1817	4067	5884	-	-	-	SO:0001819	synonymous_variant	0			BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.2418C>T	3.37:g.180334472G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E2H1	Silent	SNP	superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.L806	ENST00000442201.2	37	c.2418	CCDS46964.1	3																																																																																			CCDC39	-	NULL	ENSG00000145075		0.308	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC39	HGNC	protein_coding	OTTHUMT00000349783.3	129	0.00	0	G	XM_291028		180334472	180334472	-1	no_errors	ENST00000442201	ensembl	human	known	69_37n	silent	156	18.75	36	SNP	0.993	A
CCDC40	55036	genome.wustl.edu	37	17	78013794	78013794	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:78013794G>A	ENST00000397545.4	+	3	304	c.277G>A	c.(277-279)Gag>Aag	p.E93K	CCDC40_ENST00000374877.3_Missense_Mutation_p.E93K|CCDC40_ENST00000374876.4_Missense_Mutation_p.E93K|CCDC40_ENST00000269318.5_Missense_Mutation_p.E93K	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	93					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TGAAAGCGAAGAGGAATATTA	0.517																																						dbGAP											0													71.0	76.0	74.0					17																	78013794		1985	4158	6143	-	-	-	SO:0001583	missense	0			AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.277G>A	17.37:g.78013794G>A	ENSP00000380679:p.Glu93Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	pfam_E3_ubiquit_lig_BRE1	p.E93K	ENST00000397545.4	37	c.277	CCDS42395.1	17	.	.	.	.	.	.	.	.	.	.	G	8.153	0.787766	0.16258	.	.	ENSG00000141519	ENST00000374877;ENST00000269318;ENST00000374876;ENST00000397545	T;D;T;T	0.84944	0.85;-1.92;0.85;0.88	2.97	0.896	0.19253	.	.	.	.	.	T	0.65637	0.2710	N	0.08118	0	0.09310	N	1	B;B	0.28713	0.22;0.012	B;B	0.23574	0.047;0.004	T	0.55611	-0.8114	9	0.42905	T	0.14	-2.6512	3.5983	0.08014	0.1351:0.0:0.6199:0.245	.	93;93	Q4G0X9-5;Q4G0X9	.;CCD40_HUMAN	K	93	ENSP00000364011:E93K;ENSP00000269318:E93K;ENSP00000364010:E93K;ENSP00000380679:E93K	ENSP00000269318:E93K	E	+	1	0	CCDC40	75628389	0.003000	0.15002	0.002000	0.10522	0.027000	0.11550	1.545000	0.36169	0.292000	0.22492	0.650000	0.86243	GAG	CCDC40	-	NULL	ENSG00000141519		0.517	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC40	HGNC	protein_coding	OTTHUMT00000256005.2	46	0.00	0	G	XM_371082		78013794	78013794	+1	no_errors	ENST00000397545	ensembl	human	known	69_37n	missense	27	32.50	13	SNP	0.003	A
CEP83	51134	genome.wustl.edu	37	12	94772680	94772680	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:94772680C>G	ENST00000397809.5	-	7	1237	c.688G>C	c.(688-690)Gaa>Caa	p.E230Q	CCDC41_ENST00000339839.5_Missense_Mutation_p.E230Q|CCDC41_ENST00000547575.1_Missense_Mutation_p.E230Q|CCDC41_ENST00000549352.1_5'UTR|CCDC41_ENST00000397807.2_Missense_Mutation_p.E197Q	NM_016122.2	NP_057206.2	Q9Y592	CEP83_HUMAN		222					cilium assembly (GO:0042384)|protein localization to centrosome (GO:0071539)|vesicle docking (GO:0048278)	centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|Golgi apparatus (GO:0005794)				breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						TCCGCTACTTCAGCCTCTAAA	0.433																																						dbGAP											0													150.0	143.0	145.0					12																	94772680		1835	4097	5932	-	-	-	SO:0001583	missense	0																														ENST00000397809.5:c.688G>C	12.37:g.94772680C>G	ENSP00000380911:p.Glu230Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A4FVB1|Q08AP1	Missense_Mutation	SNP	NULL	p.E230Q	ENST00000397809.5	37	c.688	CCDS41820.1	12	.	.	.	.	.	.	.	.	.	.	C	18.56	3.649551	0.67358	.	.	ENSG00000173588	ENST00000339839;ENST00000397809;ENST00000397807;ENST00000547575	T;T;T;T	0.24538	1.85;1.85;1.85;1.85	5.69	5.69	0.88448	.	.	.	.	.	T	0.50973	0.1647	M	0.65498	2.005	0.49687	D	0.999815	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.997	T	0.27673	-1.0067	9	0.27082	T	0.32	-15.4362	19.8051	0.96529	0.0:1.0:0.0:0.0	.	230;197;222	F8VYN8;Q9Y592-2;Q9Y592	.;.;CCD41_HUMAN	Q	230;230;197;230	ENSP00000344655:E230Q;ENSP00000380911:E230Q;ENSP00000380909:E197Q;ENSP00000448913:E230Q	ENSP00000344655:E230Q	E	-	1	0	CCDC41	93296811	1.000000	0.71417	0.992000	0.48379	0.412000	0.31113	6.688000	0.74557	2.691000	0.91804	0.585000	0.79938	GAA	CCDC41	-	NULL	ENSG00000173588		0.433	CCDC41-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CCDC41	HGNC	protein_coding	OTTHUMT00000408147.3	110	0.00	0	C			94772680	94772680	-1	no_errors	ENST00000339839	ensembl	human	known	69_37n	missense	101	16.39	20	SNP	1.000	G
CCDC78	124093	genome.wustl.edu	37	16	775496	775496	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:775496C>G	ENST00000293889.6	-	4	457	c.352G>C	c.(352-354)Gac>Cac	p.D118H	HAGHL_ENST00000564537.1_5'Flank|HAGHL_ENST00000564545.1_5'Flank|HAGHL_ENST00000561546.1_5'Flank|HAGHL_ENST00000549114.1_5'Flank|HAGHL_ENST00000341413.4_5'Flank|HAGHL_ENST00000389703.3_5'Flank	NM_001031737.2	NP_001026907.2	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78	118					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)				TGCCTGGGGTCAGACTCCACT	0.612																																						dbGAP											0													59.0	57.0	58.0					16																	775496		2193	4295	6488	-	-	-	SO:0001583	missense	0			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.352G>C	16.37:g.775496C>G	ENSP00000293889:p.Asp118His	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DNY4|B4E1U6|Q05BY7|Q05CA0|Q6T2V5|Q6ZR33|Q8IUR3|Q8NAY7|Q96S12	Missense_Mutation	SNP	NULL	p.D118H	ENST00000293889.6	37	c.352	CCDS32353.1	16	.	.	.	.	.	.	.	.	.	.	C	13.76	2.334259	0.41297	.	.	ENSG00000162004	ENST00000293889	T	0.53640	0.61	3.43	-2.12	0.07165	.	0.824503	0.10444	N	0.673931	T	0.36441	0.0967	N	0.22421	0.69	0.09310	N	1	B;B;B;P	0.47677	0.203;0.203;0.203;0.899	B;B;B;P	0.50490	0.034;0.034;0.06;0.642	T	0.26395	-1.0104	10	0.62326	D	0.03	.	3.7828	0.08687	0.0:0.3237:0.193:0.4833	.	118;118;192;118	A2IDD5-4;A2IDD5-6;A2IDD5-5;A2IDD5	.;.;.;CCD78_HUMAN	H	118	ENSP00000293889:D118H	ENSP00000293889:D118H	D	-	1	0	CCDC78	715497	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.969000	0.03813	-0.305000	0.08831	0.436000	0.28706	GAC	CCDC78	-	NULL	ENSG00000162004		0.612	CCDC78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC78	HGNC	protein_coding	OTTHUMT00000241665.3	52	0.00	0	C	NM_173476		775496	775496	-1	no_errors	ENST00000293889	ensembl	human	known	69_37n	missense	41	24.07	13	SNP	0.000	G
CCDC79	283847	genome.wustl.edu	37	16	66809130	66809130	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:66809130G>A	ENST00000558713.2	-	11	1074	c.1002C>T	c.(1000-1002)gaC>gaT	p.D334D	CCDC79_ENST00000561333.1_5'UTR|CCDC79_ENST00000433154.1_Silent_p.D334D|CCDC79_ENST00000415744.1_Intron|CCDC79_ENST00000432602.1_Silent_p.D334D|CCDC79_ENST00000433574.1_Silent_p.D334D			Q8NA31	TERB1_HUMAN	coiled-coil domain containing 79	334					meiotic telomere clustering (GO:0045141)|synapsis (GO:0007129)	chromosome, telomeric region (GO:0000781)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|skin(2)	7						TTTTAAAAAGGTCATACTGAT	0.348																																						dbGAP											0													158.0	125.0	135.0					16																	66809130		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AK093213		16q22.1	2012-10-03			ENSG00000249961	ENSG00000249961			26675	protein-coding gene	gene with protein product							Standard	NM_001136505		Approved	FLJ35894	uc010viv.2	Q8NA31	OTTHUMG00000133562	ENST00000558713.2:c.1002C>T	16.37:g.66809130G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A0AUW1	Silent	SNP	pfam_SANT/Myb,superfamily_ARM-type_fold,superfamily_Homeodomain-like,superfamily_Cytokine_IL1-like,smart_SANT/Myb	p.D334	ENST00000558713.2	37	c.1002		16																																																																																			CCDC79	-	superfamily_ARM-type_fold	ENSG00000249961		0.348	CCDC79-003	KNOWN	basic|appris_principal	protein_coding	CCDC79	HGNC	protein_coding	OTTHUMT00000418864.2	127	0.00	0	G			66809130	66809130	-1	no_errors	ENST00000433154	ensembl	human	known	69_37n	silent	123	14.58	21	SNP	0.844	A
CCDC79	283847	genome.wustl.edu	37	16	66819740	66819740	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:66819740C>G	ENST00000558713.2	-	8	721	c.649G>C	c.(649-651)Gag>Cag	p.E217Q	CCDC79_ENST00000561333.1_5'UTR|CCDC79_ENST00000433154.1_Missense_Mutation_p.E217Q|CCDC79_ENST00000415744.1_Missense_Mutation_p.E217Q|CCDC79_ENST00000432602.1_Missense_Mutation_p.E217Q|CCDC79_ENST00000433574.1_Missense_Mutation_p.E217Q			Q8NA31	TERB1_HUMAN	coiled-coil domain containing 79	217					meiotic telomere clustering (GO:0045141)|synapsis (GO:0007129)	chromosome, telomeric region (GO:0000781)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|skin(2)	7						CGAATTATCTCAGGTGTCGTG	0.338																																						dbGAP											0													89.0	77.0	81.0					16																	66819740		692	1590	2282	-	-	-	SO:0001583	missense	0			AK093213		16q22.1	2012-10-03			ENSG00000249961	ENSG00000249961			26675	protein-coding gene	gene with protein product							Standard	NM_001136505		Approved	FLJ35894	uc010viv.2	Q8NA31	OTTHUMG00000133562	ENST00000558713.2:c.649G>C	16.37:g.66819740C>G	ENSP00000462883:p.Glu217Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AUW1	Missense_Mutation	SNP	pfam_SANT/Myb,superfamily_ARM-type_fold,superfamily_Homeodomain-like,superfamily_Cytokine_IL1-like,smart_SANT/Myb	p.E217Q	ENST00000558713.2	37	c.649		16	.	.	.	.	.	.	.	.	.	.	C	15.05	2.719383	0.48728	.	.	ENSG00000177461	ENST00000433154;ENST00000432602;ENST00000433574;ENST00000415744	T;T;T;T	0.21932	1.98;1.98;1.98;1.98	5.66	5.66	0.87406	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.45196	0.1330	L	0.54323	1.7	0.46774	D	0.999195	D;D	0.89917	0.992;1.0	D;D	0.87578	0.973;0.998	T	0.19451	-1.0305	10	0.54805	T	0.06	-12.4514	19.7479	0.96258	0.0:1.0:0.0:0.0	.	217;217	Q8NA31;Q8NA31-2	CCD79_HUMAN;.	Q	217	ENSP00000463762:E217Q;ENSP00000462977:E217Q;ENSP00000462037:E217Q;ENSP00000462236:E217Q	ENSP00000440822:E217Q	E	-	1	0	CCDC79	65377241	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.116000	0.57871	2.653000	0.90120	0.655000	0.94253	GAG	CCDC79	-	superfamily_ARM-type_fold	ENSG00000249961		0.338	CCDC79-003	KNOWN	basic|appris_principal	protein_coding	CCDC79	HGNC	protein_coding	OTTHUMT00000418864.2	67	0.00	0	C			66819740	66819740	-1	no_errors	ENST00000433154	ensembl	human	known	69_37n	missense	50	24.24	16	SNP	1.000	G
CCDC87	55231	genome.wustl.edu	37	11	66359836	66359836	+	Silent	SNP	G	G	A	rs17853294		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:66359836G>A	ENST00000333861.3	-	1	718	c.651C>T	c.(649-651)ttC>ttT	p.F217F	CCS_ENST00000310190.4_5'Flank|CCS_ENST00000533244.1_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	217			F -> L (in dbSNP:rs17853294). {ECO:0000269|PubMed:15489334}.		cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCACTTGGGCGAAGCCAGTGC	0.592																																						dbGAP											0													70.0	55.0	60.0					11																	66359836		2200	4295	6495	-	-	-	SO:0001819	synonymous_variant	0			BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.651C>T	11.37:g.66359836G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NE76	Silent	SNP	pfam_Microtubule-assoc_MAP65_ASE1	p.F217	ENST00000333861.3	37	c.651	CCDS8145.1	11																																																																																			CCDC87	-	NULL	ENSG00000182791		0.592	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC87	HGNC	protein_coding	OTTHUMT00000393825.1	40	0.00	0	G	NM_018219		66359836	66359836	-1	no_errors	ENST00000333861	ensembl	human	known	69_37n	silent	71	11.25	9	SNP	0.009	A
CCDC88A	55704	genome.wustl.edu	37	2	55523081	55523081	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:55523081C>G	ENST00000436346.1	-	31	6044	c.5203G>C	c.(5203-5205)Gta>Cta	p.V1735L	CCDC88A_ENST00000422883.2_Missense_Mutation_p.V236L|CCDC88A_ENST00000263630.8_Missense_Mutation_p.V1707L|CCDC88A_ENST00000413716.2_Intron|CCDC88A_ENST00000336838.6_Missense_Mutation_p.V1734L	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1735					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TTTCCACTTACTGACCTGGCC	0.413																																						dbGAP											0													52.0	57.0	55.0					2																	55523081		2199	4300	6499	-	-	-	SO:0001583	missense	0			AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.5203G>C	2.37:g.55523081C>G	ENSP00000410608:p.Val1735Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	pfam_HOOK,superfamily_Prefoldin,superfamily_t-SNARE	p.V1735L	ENST00000436346.1	37	c.5203		2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	7.455|7.455|7.455	0.643465|0.643465|0.643465	0.14451|0.14451|0.14451	.|.|.	.|.|.	ENSG00000115355|ENSG00000115355|ENSG00000115355	ENST00000444458|ENST00000456975|ENST00000336838;ENST00000263630;ENST00000436346;ENST00000422883;ENST00000412148;ENST00000426576	.|.|T;T;T;T;T	.|.|0.44881	.|.|2.47;2.73;2.69;0.91;1.42	5.03|5.03|5.03	5.03|5.03|5.03	0.67393|0.67393|0.67393	.|.|.	.|.|0.166954	.|.|0.27577	.|.|U	.|.|0.018742	T|T|T	0.36220|0.36220|0.36220	0.0959|0.0959|0.0959	N|N|N	0.08118|0.08118|0.08118	0|0|0	0.28045|0.28045|0.28045	N|N|N	0.933572|0.933572|0.933572	.|.|B;B;D;B;B;B	.|.|0.53312	.|.|0.0;0.0;0.959;0.0;0.0;0.0	.|.|B;B;D;B;B;B	.|.|0.67103	.|.|0.001;0.001;0.949;0.0;0.002;0.001	T|T|T	0.23583|0.23583|0.23583	-1.0184|-1.0184|-1.0184	5|6|10	.|0.20046|0.38643	.|T|T	.|0.44|0.18	-13.9226|-13.9226|-13.9226	4.6323|4.6323|4.6323	0.12507|0.12507|0.12507	0.1407:0.556:0.222:0.0813|0.1407:0.556:0.222:0.0813|0.1407:0.556:0.222:0.0813	.|.|.	.|.|1707;1652;236;1735;1734;1706	.|.|Q3V6T2-2;D6W5D1;B3KW94;Q3V6T2;Q3V6T2-3;Q3V6T2-4	.|.|.;.;.;GRDN_HUMAN;.;.	H|T|L	237|687|1734;1707;1735;236;752;910	.|.|ENSP00000338728:V1734L;ENSP00000263630:V1707L;ENSP00000410608:V1735L;ENSP00000390012:V752L;ENSP00000405080:V910L	.|ENSP00000415267:S687T|ENSP00000263630:V1707L	Q|S|V	-|-|-	3|2|1	2|0|0	CCDC88A|CCDC88A|CCDC88A	55376585|55376585|55376585	0.844000|0.844000|0.844000	0.29557|0.29557|0.29557	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.995000|0.995000|0.995000	0.86356|0.86356|0.86356	0.471000|0.471000|0.471000	0.22100|0.22100|0.22100	2.470000|2.470000|2.470000	0.83445|0.83445|0.83445	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	CAG|AGT|GTA	CCDC88A	-	NULL	ENSG00000115355		0.413	CCDC88A-203	KNOWN	basic	protein_coding	CCDC88A	HGNC	protein_coding		52	0.00	0	C	NM_017571		55523081	55523081	-1	no_errors	ENST00000436346	ensembl	human	known	69_37n	missense	57	16.18	11	SNP	1.000	G
CCDC88A	55704	genome.wustl.edu	37	2	55536132	55536132	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:55536132C>T	ENST00000436346.1	-	25	5041	c.4200G>A	c.(4198-4200)atG>atA	p.M1400I	AC012358.8_ENST00000366287.4_RNA|CCDC88A_ENST00000422883.2_Missense_Mutation_p.M23I|CCDC88A_ENST00000263630.8_Missense_Mutation_p.M1400I|CCDC88A_ENST00000413716.2_Missense_Mutation_p.M1399I|CCDC88A_ENST00000336838.6_Missense_Mutation_p.M1399I	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1400	Phosphoinositide-binding. {ECO:0000269|PubMed:16139227}.				activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TCAATTTTCTCATTTTTAGAG	0.343																																						dbGAP											0													68.0	68.0	68.0					2																	55536132		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.4200G>A	2.37:g.55536132C>T	ENSP00000410608:p.Met1400Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	pfam_HOOK,superfamily_Prefoldin,superfamily_t-SNARE	p.M1400I	ENST00000436346.1	37	c.4200		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.46|15.46	2.839044|2.839044	0.51057|0.51057	.|.	.|.	ENSG00000115355|ENSG00000115355	ENST00000456975|ENST00000336838;ENST00000263630;ENST00000436346;ENST00000422883;ENST00000412148;ENST00000413716;ENST00000426576	.|T;T;T;T;T;T	.|0.44881	.|2.38;2.7;2.6;0.91;2.4;1.35	5.05|5.05	5.05|5.05	0.67936|0.67936	.|.	.|0.000000	.|0.64402	.|U	.|0.000017	T|T	0.33059|0.33059	0.0850|0.0850	N|N	0.22421|0.22421	0.69|0.69	0.33565|0.33565	D|D	0.597859|0.597859	.|B;P;B;B;B;P;P	.|0.35575	.|0.021;0.459;0.329;0.089;0.013;0.51;0.459	.|B;B;B;B;B;B;B	.|0.39840	.|0.004;0.16;0.084;0.062;0.004;0.311;0.16	T|T	0.47947|0.47947	-0.9077|-0.9077	5|10	.|0.32370	.|T	.|0.25	-8.0721|-8.0721	13.3858|13.3858	0.60795|0.60795	0.1574:0.8426:0.0:0.0|0.1574:0.8426:0.0:0.0	.|.	.|1399;1400;1345;23;1400;1399;1399	.|B7ZM78;Q3V6T2-2;D6W5D1;B3KW94;Q3V6T2;Q3V6T2-3;Q3V6T2-4	.|.;.;.;.;GRDN_HUMAN;.;.	K|I	381|1399;1400;1400;23;445;1399;575	.|ENSP00000338728:M1399I;ENSP00000263630:M1400I;ENSP00000410608:M1400I;ENSP00000390012:M445I;ENSP00000404431:M1399I;ENSP00000405080:M575I	.|ENSP00000263630:M1400I	E|M	-|-	1|3	0|0	CCDC88A|CCDC88A	55389636|55389636	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.772000|7.772000	0.85439|0.85439	2.332000|2.332000	0.79248|0.79248	0.591000|0.591000	0.81541|0.81541	GAG|ATG	CCDC88A	-	NULL	ENSG00000115355		0.343	CCDC88A-203	KNOWN	basic	protein_coding	CCDC88A	HGNC	protein_coding		82	0.00	0	C	NM_017571		55536132	55536132	-1	no_errors	ENST00000436346	ensembl	human	known	69_37n	missense	87	27.50	33	SNP	1.000	T
CCDC88A	55704	genome.wustl.edu	37	2	55591145	55591145	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:55591145C>T	ENST00000436346.1	-	6	1268	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	CCDC88A_ENST00000336838.6_Missense_Mutation_p.E143K|CCDC88A_ENST00000263630.8_Missense_Mutation_p.E143K|CCDC88A_ENST00000413716.2_Missense_Mutation_p.E143K	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	143					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TGAATTCTTTCAATAAATTCC	0.274																																						dbGAP											0													51.0	53.0	52.0					2																	55591145		2202	4291	6493	-	-	-	SO:0001583	missense	0			AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.427G>A	2.37:g.55591145C>T	ENSP00000410608:p.Glu143Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	pfam_HOOK,superfamily_Prefoldin,superfamily_t-SNARE	p.E143K	ENST00000436346.1	37	c.427		2	.	.	.	.	.	.	.	.	.	.	C	32	5.181470	0.94885	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000413716;ENST00000430086	T;T;T;T;T	0.16457	2.34;2.34;2.34;2.34;2.34	5.19	5.19	0.71726	.	0.000000	0.46442	U	0.000300	T	0.40956	0.1138	L	0.60455	1.87	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.85130	0.992;0.996;0.997	T	0.18999	-1.0319	10	0.62326	D	0.03	-17.7637	18.6989	0.91613	0.0:1.0:0.0:0.0	.	143;143;143	B7ZM78;Q3V6T2-2;Q3V6T2-3	.;.;.	K	143;143;143;143;68	ENSP00000338728:E143K;ENSP00000263630:E143K;ENSP00000410608:E143K;ENSP00000404431:E143K;ENSP00000399237:E68K	ENSP00000263630:E143K	E	-	1	0	CCDC88A	55444649	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.384000	0.79751	2.426000	0.82243	0.563000	0.77884	GAA	CCDC88A	-	pfam_HOOK	ENSG00000115355		0.274	CCDC88A-203	KNOWN	basic	protein_coding	CCDC88A	HGNC	protein_coding		109	0.00	0	C	NM_017571		55591145	55591145	-1	no_errors	ENST00000436346	ensembl	human	known	69_37n	missense	82	21.15	22	SNP	1.000	T
CCDC88A	55704	genome.wustl.edu	37	2	55615932	55615932	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:55615932C>G	ENST00000436346.1	-	3	1096	c.255G>C	c.(253-255)caG>caC	p.Q85H	CCDC88A_ENST00000336838.6_Missense_Mutation_p.Q85H|CCDC88A_ENST00000263630.8_Missense_Mutation_p.Q85H|CCDC88A_ENST00000413716.2_Missense_Mutation_p.Q85H	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	85					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						AAAATTTTATCTGTCTCACCA	0.289																																						dbGAP											0													63.0	67.0	66.0					2																	55615932		2200	4275	6475	-	-	-	SO:0001583	missense	0			AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.255G>C	2.37:g.55615932C>G	ENSP00000410608:p.Gln85His	Somatic		WXS	Illumina GAIIx	Phase_IV	A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	pfam_HOOK,superfamily_Prefoldin,superfamily_t-SNARE	p.Q85H	ENST00000436346.1	37	c.255		2	.	.	.	.	.	.	.	.	.	.	C	4.808	0.150205	0.09185	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000413716;ENST00000430086	T;T;T;T;T	0.17213	2.29;2.29;2.29;2.29;2.29	5.97	3.87	0.44632	.	0.616833	0.13626	U	0.374052	T	0.09992	0.0245	N	0.12471	0.22	0.80722	D	1	B;B;B	0.22909	0.002;0.037;0.077	B;B;B	0.24269	0.006;0.034;0.052	T	0.17653	-1.0362	10	0.26408	T	0.33	-10.5007	9.9223	0.41472	0.0:0.7614:0.0:0.2386	.	85;85;85	B7ZM78;Q3V6T2-2;Q3V6T2-3	.;.;.	H	85;85;85;85;10	ENSP00000338728:Q85H;ENSP00000263630:Q85H;ENSP00000410608:Q85H;ENSP00000404431:Q85H;ENSP00000399237:Q10H	ENSP00000263630:Q85H	Q	-	3	2	CCDC88A	55469436	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.694000	0.25512	1.539000	0.49286	-0.145000	0.13849	CAG	CCDC88A	-	pfam_HOOK	ENSG00000115355		0.289	CCDC88A-203	KNOWN	basic	protein_coding	CCDC88A	HGNC	protein_coding		85	0.00	0	C	NM_017571		55615932	55615932	-1	no_errors	ENST00000436346	ensembl	human	known	69_37n	missense	66	15.38	12	SNP	1.000	G
CCIN	881	genome.wustl.edu	37	9	36169863	36169863	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:36169863G>A	ENST00000335119.2	+	1	475	c.364G>A	c.(364-366)Gac>Aac	p.D122N		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	122	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			TCACTGTAACGACTTCCTTAT	0.507																																						dbGAP											0													135.0	116.0	122.0					9																	36169863		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z46967	CCDS6599.1	9p13.1	2013-10-02			ENSG00000185972	ENSG00000185972		"""BTB/POZ domain containing"""	1568	protein-coding gene	gene with protein product		603960				7641791	Standard	NM_005893		Approved	KBTBD14, BTBD20	uc003zzb.4	Q13939	OTTHUMG00000019901	ENST00000335119.2:c.364G>A	9.37:g.36169863G>A	ENSP00000334996:p.Asp122Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BXG7	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.D122N	ENST00000335119.2	37	c.364	CCDS6599.1	9	.	.	.	.	.	.	.	.	.	.	G	12.53	1.964324	0.34659	.	.	ENSG00000185972	ENST00000335119	T	0.70986	-0.53	5.26	4.36	0.52297	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.56097	D	0.000024	T	0.75206	0.3818	L	0.44542	1.39	0.33198	D	0.551799	D	0.76494	0.999	D	0.66979	0.948	T	0.79490	-0.1782	10	0.38643	T	0.18	.	10.3774	0.44090	0.0919:0.0:0.9081:0.0	.	122	Q13939	CALI_HUMAN	N	122	ENSP00000334996:D122N	ENSP00000334996:D122N	D	+	1	0	CCIN	36159863	1.000000	0.71417	0.998000	0.56505	0.872000	0.50106	3.058000	0.49939	1.358000	0.45922	-0.448000	0.05591	GAC	CCIN	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	ENSG00000185972		0.507	CCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCIN	HGNC	protein_coding	OTTHUMT00000052418.1	76	0.00	0	G	NM_005893		36169863	36169863	+1	no_errors	ENST00000335119	ensembl	human	known	69_37n	missense	137	10.39	16	SNP	1.000	A
CCNB1	891	genome.wustl.edu	37	5	68463734	68463734	+	Splice_Site	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:68463734G>A	ENST00000256442.5	+	2	274		c.e2-1			NM_031966.3	NP_114172.1	P14635	CCNB1_HUMAN	cyclin B1						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to iron(III) ion (GO:0071283)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle checkpoint (GO:0071174)|mitotic spindle stabilization (GO:0043148)|negative regulation of gene expression (GO:0010629)|negative regulation of protein phosphorylation (GO:0001933)|oocyte maturation (GO:0001556)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of chromosome condensation (GO:0060623)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to DDT (GO:0046680)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|spermatogenesis (GO:0007283)|tissue regeneration (GO:0042246)|ventricular cardiac muscle cell development (GO:0055015)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	kinase activity (GO:0016301)|patched binding (GO:0005113)|protein kinase binding (GO:0019901)			large_intestine(2)|lung(5)|skin(1)	8		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		GCTTCTTTCAGAACTCGAAAA	0.502																																						dbGAP											0													42.0	43.0	43.0					5																	68463734		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			U22364	CCDS3997.1	5q12	2008-07-18			ENSG00000134057	ENSG00000134057			1579	protein-coding gene	gene with protein product	"""G2/mitotic-specific cyclin B1"""	123836		CCNB		1386342	Standard	NM_031966		Approved		uc003jvm.3	P14635	OTTHUMG00000097817	ENST00000256442.5:c.22-1G>A	5.37:g.68463734G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K066|Q5TZP9	Splice_Site	SNP	-	e2-1	ENST00000256442.5	37	c.22-1	CCDS3997.1	5	.	.	.	.	.	.	.	.	.	.	G	19.73	3.881455	0.72294	.	.	ENSG00000134057	ENST00000256442;ENST00000506572;ENST00000508407;ENST00000505500	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0333	0.92967	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCNB1	68499490	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	3.843000	0.55865	2.868000	0.98415	0.555000	0.69702	.	CCNB1	-	-	ENSG00000134057		0.502	CCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNB1	HGNC	protein_coding	OTTHUMT00000215084.1	51	0.00	0	G	NM_031966	Intron	68463734	68463734	+1	no_errors	ENST00000256442	ensembl	human	known	69_37n	splice_site	33	26.67	12	SNP	1.000	A
CCNK	8812	genome.wustl.edu	37	14	99959023	99959023	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:99959023G>A	ENST00000389879.5	+	2	132	c.9G>A	c.(7-9)gaG>gaA	p.E3E	CCNK_ENST00000555049.1_Silent_p.E3E|CCNK_ENST00000557165.1_3'UTR	NM_001099402.1	NP_001092872.1	O75909	CCNK_HUMAN	cyclin K	3					cellular response to DNA damage stimulus (GO:0006974)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of cell cycle arrest (GO:0071157)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cyclin K-CDK12 complex (GO:0002944)|cyclin K-CDK13 complex (GO:0002945)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase binding (GO:0019901)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(1)|endometrium(2)|lung(3)	6		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)				AAATGAAGGAGAATAAAGAAA	0.388																																						dbGAP											0													54.0	50.0	51.0					14																	99959023		1839	4102	5941	-	-	-	SO:0001819	synonymous_variant	0			AF060515	CCDS45160.1	14q32.2	2014-07-03			ENSG00000090061	ENSG00000090061			1596	protein-coding gene	gene with protein product		603544				9632813, 10574912	Standard	NM_001099402		Approved	CPR4	uc001ygi.4	O75909	OTTHUMG00000171495	ENST00000389879.5:c.9G>A	14.37:g.99959023G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q59FT6|Q86U16|Q96B63|Q9NNY9	Silent	SNP	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like	p.E3	ENST00000389879.5	37	c.9	CCDS45160.1	14																																																																																			CCNK	-	NULL	ENSG00000090061		0.388	CCNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNK	HGNC	protein_coding	OTTHUMT00000413721.1	44	0.00	0	G			99959023	99959023	+1	no_errors	ENST00000389879	ensembl	human	known	69_37n	silent	36	30.77	16	SNP	0.999	A
CCNL2	81669	genome.wustl.edu	37	1	1325714	1325714	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:1325714delC	ENST00000400809.3	-	8	907	c.902delG	c.(901-903)agafs	p.R301fs	CCNL2_ENST00000505849.1_5'UTR|CCNL2_ENST00000408952.5_Frame_Shift_Del_p.R79fs	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	301					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	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;8.75e-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)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		AGCGTGCTTTCTTTTTTCCAC	0.567																																						dbGAP											0													99.0	102.0	101.0					1																	1325714		2203	4296	6499	-	-	-	SO:0001589	frameshift_variant	0			AF251294	CCDS30557.1, CCDS30558.1	1p36.33	2014-07-03			ENSG00000221978	ENSG00000221978			20570	protein-coding gene	gene with protein product	"""cyclin S"""	613482	"""cyclin M"""	CCNM		14725631	Standard	NM_030937		Approved	ania-6b, PCEE, SB138, HLA-ISO, CCNS	uc001afi.2	Q96S94	OTTHUMG00000002917	ENST00000400809.3:c.902delG	1.37:g.1325714delC	ENSP00000383611:p.Arg301fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8A3|B1B152|Q5T2N5|Q5T2N6|Q6IQ12|Q7Z4Z8|Q8N3C9|Q8N3D5|Q8NHE3|Q8TEL0|Q96B00	Frame_Shift_Del	DEL	pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L	p.R301fs	ENST00000400809.3	37	c.902	CCDS30557.1	1																																																																																			CCNL2	-	pirsf_Cyclin_L	ENSG00000221978		0.567	CCNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNL2	HGNC	protein_coding	OTTHUMT00000008146.2	70	0.00	0	C	NM_030937		1325714	1325714	-1	no_errors	ENST00000400809	ensembl	human	known	69_37n	frame_shift_del	63	16.67	14	DEL	0.803	-
CCNT2	905	genome.wustl.edu	37	2	135705412	135705412	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:135705412G>A	ENST00000264157.5	+	7	676	c.646G>A	c.(646-648)Gat>Aat	p.D216N	CCNT2_ENST00000295238.6_Missense_Mutation_p.D216N|CCNT2_ENST00000537343.1_Missense_Mutation_p.D41N	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN	cyclin T2	216					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|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, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		TGTATCAACTGATGGAAAGCA	0.358																																						dbGAP											0													141.0	129.0	133.0					2																	135705412		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF048731	CCDS2174.1, CCDS2175.1	2q21.3	2010-11-15			ENSG00000082258	ENSG00000082258			1600	protein-coding gene	gene with protein product		603862				9499409, 10465067	Standard	NM_001241		Approved		uc002tuc.2	O60583	OTTHUMG00000131712	ENST00000264157.5:c.646G>A	2.37:g.135705412G>A	ENSP00000264157:p.Asp216Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KA48|D3DP73|D3DP74|O60582|Q29R66|Q53SR4|Q5I1Y0	Missense_Mutation	SNP	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like	p.D216N	ENST00000264157.5	37	c.646	CCDS2174.1	2	.	.	.	.	.	.	.	.	.	.	G	22.9	4.350264	0.82132	.	.	ENSG00000082258	ENST00000446247;ENST00000537343;ENST00000295238;ENST00000264157	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.43	5.43	0.79202	Cyclin-like (1);	0.000000	0.85682	D	0.000000	T	0.61185	0.2327	L	0.52573	1.65	0.80722	D	1	D;B;P	0.89917	1.0;0.241;0.739	D;B;P	0.87578	0.998;0.105;0.603	T	0.59440	-0.7454	10	0.48119	T	0.1	.	19.231	0.93841	0.0:0.0:1.0:0.0	.	41;216;216	B4DH21;O60583;O60583-2	.;CCNT2_HUMAN;.	N	57;41;216;216	ENSP00000399497:D57N;ENSP00000439506:D41N;ENSP00000295238:D216N;ENSP00000264157:D216N	ENSP00000264157:D216N	D	+	1	0	CCNT2	135421882	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.869000	0.99810	2.542000	0.85734	0.591000	0.81541	GAT	CCNT2	-	superfamily_Cyclin-like,smart_Cyclin-like	ENSG00000082258		0.358	CCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNT2	HGNC	protein_coding	OTTHUMT00000254629.1	102	0.00	0	G	NM_058241		135705412	135705412	+1	no_errors	ENST00000264157	ensembl	human	known	69_37n	missense	73	22.34	21	SNP	1.000	A
CCNT2	905	genome.wustl.edu	37	2	135712165	135712165	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:135712165G>C	ENST00000264157.5	+	9	2170	c.2140G>C	c.(2140-2142)Gac>Cac	p.D714H	CCNT2_ENST00000295238.6_3'UTR|CCNT2_ENST00000537343.1_3'UTR	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN	cyclin T2	714					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|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, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		GGACTACAAAGACACATTCGA	0.408																																						dbGAP											0													93.0	85.0	88.0					2																	135712165		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF048731	CCDS2174.1, CCDS2175.1	2q21.3	2010-11-15			ENSG00000082258	ENSG00000082258			1600	protein-coding gene	gene with protein product		603862				9499409, 10465067	Standard	NM_001241		Approved		uc002tuc.2	O60583	OTTHUMG00000131712	ENST00000264157.5:c.2140G>C	2.37:g.135712165G>C	ENSP00000264157:p.Asp714His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KA48|D3DP73|D3DP74|O60582|Q29R66|Q53SR4|Q5I1Y0	Missense_Mutation	SNP	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like	p.D714H	ENST00000264157.5	37	c.2140	CCDS2174.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.14|15.14	2.743793|2.743793	0.49151|0.49151	.|.	.|.	ENSG00000082258|ENSG00000082258	ENST00000264157|ENST00000452521	T|.	0.66995|.	-0.24|.	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	0.000000|.	0.64402|.	D|.	0.000016|.	T|T	0.74261|0.74261	0.3693|0.3693	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	P|.	0.61328|.	0.887|.	T|T	0.71447|0.71447	-0.4590|-0.4590	10|5	0.87932|.	D|.	0|.	.|.	19.5647|19.5647	0.95388|0.95388	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	714|.	O60583|.	CCNT2_HUMAN|.	H|T	714|132	ENSP00000264157:D714H|.	ENSP00000264157:D714H|.	D|R	+|+	1|2	0|0	CCNT2|CCNT2	135428635|135428635	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.722000|6.722000	0.74735|0.74735	2.616000|2.616000	0.88540|0.88540	0.655000|0.655000	0.94253|0.94253	GAC|AGA	CCNT2	-	NULL	ENSG00000082258		0.408	CCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNT2	HGNC	protein_coding	OTTHUMT00000254629.1	56	0.00	0	G	NM_058241		135712165	135712165	+1	no_errors	ENST00000264157	ensembl	human	known	69_37n	missense	61	29.07	25	SNP	1.000	C
CCNYL1	151195	genome.wustl.edu	37	2	208589556	208589556	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:208589556C>T	ENST00000295414.3	+	2	464	c.253C>T	c.(253-255)Cca>Tca	p.P85S	CCNYL1_ENST00000392209.3_Missense_Mutation_p.P15S|CCNYL1_ENST00000339882.5_Missense_Mutation_p.P85S			Q8N7R7	CCYL1_HUMAN	cyclin Y-like 1	85					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)					endometrium(1)|large_intestine(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0731)|Epithelial(149;0.139)|Lung(261;0.14)		TTCTGACCATCCAAGGGCAAG	0.368																																						dbGAP											0													83.0	75.0	77.0					2																	208589556		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK095479	CCDS2377.1, CCDS46503.1	2q33.3	2008-02-05			ENSG00000163249	ENSG00000163249			26868	protein-coding gene	gene with protein product							Standard	NM_152523		Approved	FLJ40432	uc002vci.3	Q8N7R7	OTTHUMG00000132946	ENST00000295414.3:c.253C>T	2.37:g.208589556C>T	ENSP00000295414:p.Pro85Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NX60	Missense_Mutation	SNP	pfam_Cyclin_N,pfam_Cyclin_PHO80-like,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_Y	p.P85S	ENST00000295414.3	37	c.253		2	.	.	.	.	.	.	.	.	.	.	C	20.1	3.937146	0.73557	.	.	ENSG00000163249	ENST00000392209;ENST00000295414;ENST00000339882	T;T;T	0.48201	1.2;1.78;0.82	4.7	4.7	0.59300	.	0.129554	0.52532	U	0.000068	T	0.71169	0.3308	M	0.82823	2.61	0.42683	D	0.993554	D;D	0.71674	0.998;0.996	D;D	0.70487	0.969;0.931	T	0.77413	-0.2597	10	0.72032	D	0.01	.	17.5865	0.87983	0.0:1.0:0.0:0.0	.	85;85	Q8N7R7-2;Q8N7R7	.;CCYL1_HUMAN	S	15;85;85	ENSP00000376045:P15S;ENSP00000295414:P85S;ENSP00000342344:P85S	ENSP00000295414:P85S	P	+	1	0	CCNYL1	208297801	0.999000	0.42202	0.998000	0.56505	0.994000	0.84299	3.083000	0.50136	2.321000	0.78463	0.555000	0.69702	CCA	CCNYL1	-	pirsf_Cyclin_Y	ENSG00000163249		0.368	CCNYL1-003	KNOWN	basic	protein_coding	CCNYL1	HGNC	protein_coding	OTTHUMT00000337062.1	141	0.00	0	C	NM_152523		208589556	208589556	+1	no_errors	ENST00000295414	ensembl	human	known	69_37n	missense	87	42.00	63	SNP	1.000	T
CCNYL1	151195	genome.wustl.edu	37	2	208589589	208589589	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:208589589C>G	ENST00000295414.3	+	2	497	c.286C>G	c.(286-288)Caa>Gaa	p.Q96E	CCNYL1_ENST00000392209.3_Missense_Mutation_p.Q26E|CCNYL1_ENST00000339882.5_Missense_Mutation_p.Q96E			Q8N7R7	CCYL1_HUMAN	cyclin Y-like 1	96					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)					endometrium(1)|large_intestine(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0731)|Epithelial(149;0.139)|Lung(261;0.14)		GAGCAAATCTCAAACGGATGG	0.368																																						dbGAP											0													80.0	70.0	73.0					2																	208589589		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK095479	CCDS2377.1, CCDS46503.1	2q33.3	2008-02-05			ENSG00000163249	ENSG00000163249			26868	protein-coding gene	gene with protein product							Standard	NM_152523		Approved	FLJ40432	uc002vci.3	Q8N7R7	OTTHUMG00000132946	ENST00000295414.3:c.286C>G	2.37:g.208589589C>G	ENSP00000295414:p.Gln96Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NX60	Nonsense_Mutation	SNP	NULL	p.S28*	ENST00000295414.3	37	c.83		2	.	.	.	.	.	.	.	.	.	.	C	21.5	4.161102	0.78226	.	.	ENSG00000163249	ENST00000392209;ENST00000295414;ENST00000339882	T;T;T	0.31247	1.5;2.19;2.08	4.7	4.7	0.59300	.	0.000000	0.85682	U	0.000000	T	0.46833	0.1413	M	0.78456	2.415	0.54753	D	0.999983	P;P	0.50528	0.936;0.895	P;B	0.49528	0.614;0.23	T	0.53408	-0.8443	10	0.49607	T	0.09	.	17.5865	0.87983	0.0:1.0:0.0:0.0	.	96;96	Q8N7R7-2;Q8N7R7	.;CCYL1_HUMAN	E	26;96;96	ENSP00000376045:Q26E;ENSP00000295414:Q96E;ENSP00000342344:Q96E	ENSP00000295414:Q96E	Q	+	1	0	CCNYL1	208297834	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.097000	0.76967	2.321000	0.78463	0.555000	0.69702	CAA	CCNYL1	-	NULL	ENSG00000163249		0.368	CCNYL1-003	KNOWN	basic	protein_coding	CCNYL1	HGNC	protein_coding	OTTHUMT00000337062.1	110	0.90	1	C	NM_152523		208589589	208589589	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000452312	ensembl	human	known	69_37n	nonsense	111	13.28	17	SNP	1.000	G
CCPG1	9236	genome.wustl.edu	37	15	55670508	55670508	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:55670508G>C	ENST00000310958.6	-	4	540	c.242C>G	c.(241-243)tCa>tGa	p.S81*	CCPG1_ENST00000425574.3_Nonsense_Mutation_p.S81*|CCPG1_ENST00000442196.3_Nonsense_Mutation_p.S81*|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000569205.1_Nonsense_Mutation_p.S81*	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	81	Interaction with MCF2L and SRC. {ECO:0000250}.				cell cycle (GO:0007049)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001106)	integral component of membrane (GO:0016021)				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		CTCAATTGTTGAGCTGGTTTC	0.318																																						dbGAP											0													89.0	85.0	86.0					15																	55670508		1830	4078	5908	-	-	-	SO:0001587	stop_gained	0			AF212228	CCDS42039.1, CCDS55966.1, CCDS55967.1	15q21.1	2011-04-20				ENSG00000260916			24227	protein-coding gene	gene with protein product		611326				9383053, 10574462	Standard	NM_004748		Approved	KIAA1254, CPR8	uc010bfk.2	Q9ULG6		ENST00000310958.6:c.242C>G	15.37:g.55670508G>C	ENSP00000311656:p.Ser81*	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJH3|A8K9T0|O14712|Q05DG4|Q5U5S7|Q8IYV8|Q9BY53|Q9HA17	Nonsense_Mutation	SNP	NULL	p.S81*	ENST00000310958.6	37	c.242	CCDS42039.1	15	.	.	.	.	.	.	.	.	.	.	G	10.73	1.431844	0.25813	.	.	ENSG00000256061	ENST00000310958;ENST00000442196;ENST00000425574	.	.	.	5.82	3.96	0.45880	.	1.018910	0.07802	N	0.956741	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	9.8603	0.41109	0.1586:0.0:0.8414:0.0	.	.	.	.	X	81	.	ENSP00000311656:S81X	S	-	2	0	DYX1C1	53457800	0.018000	0.18449	0.072000	0.20136	0.006000	0.05464	1.267000	0.33050	0.816000	0.34421	0.563000	0.77884	TCA	CCPG1	-	NULL	ENSG00000260916		0.318	CCPG1-001	KNOWN	basic|CCDS	protein_coding	CCPG1	HGNC	protein_coding	OTTHUMT00000419850.1	135	0.00	0	G	NM_004748		55670508	55670508	-1	no_errors	ENST00000310958	ensembl	human	known	69_37n	nonsense	74	23.71	23	SNP	0.548	C
CCRL2	9034	genome.wustl.edu	37	3	46450096	46450096	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:46450096G>A	ENST00000399036.3	+	2	878	c.526G>A	c.(526-528)Gac>Aac	p.D176N	CCRL2_ENST00000357392.4_Missense_Mutation_p.D188N|CCRL2_ENST00000400880.3_Missense_Mutation_p.D176N|RP11-24F11.2_ENST00000451485.1_RNA|CCRL2_ENST00000400882.2_Missense_Mutation_p.D176N	NM_003965.4	NP_003956.2	O00421	CCRL2_HUMAN	chemokine (C-C motif) receptor-like 2	176					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	CCR chemokine receptor binding (GO:0048020)|chemokine receptor activity (GO:0004950)|chemokine receptor binding (GO:0042379)			lung(3)|ovary(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)		TCAGATGGAAGACCAGAAATA	0.453																																						dbGAP											0													96.0	92.0	93.0					3																	46450096		1922	4133	6055	-	-	-	SO:0001583	missense	0			AF014958	CCDS43079.1, CCDS46814.1	3p21	2013-07-18	2013-07-18	2013-07-18	ENSG00000121797	ENSG00000121797		"""GPCR / Class A : Chemokine receptors : Atypical"""	1612	protein-coding gene	gene with protein product	"""atypical chemokine receptor 5"""	608379				9473515	Standard	NM_001130910		Approved	HCR, CRAM-B, CKRX, CRAM-A, ACKR5	uc003cpp.4	O00421	OTTHUMG00000156318	ENST00000399036.3:c.526G>A	3.37:g.46450096G>A	ENSP00000381994:p.Asp176Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DKQ8|O75307|Q4VBB0|Q6IPX0|Q7KYQ9|Q96KP5|Q9UPG0	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_rcpt	p.D188N	ENST00000399036.3	37	c.562	CCDS43079.1	3	.	.	.	.	.	.	.	.	.	.	G	9.543	1.113904	0.20795	.	.	ENSG00000121797	ENST00000399036;ENST00000357392;ENST00000400880;ENST00000433848;ENST00000400882	T;T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6;-0.6	5.24	1.07	0.20283	GPCR, rhodopsin-like superfamily (1);	7.096080	0.00166	N	0.000001	T	0.49830	0.1580	N	0.13299	0.325	0.09310	N	1	P;P	0.38677	0.497;0.642	B;B	0.34418	0.074;0.182	T	0.39961	-0.9588	10	0.19147	T	0.46	.	3.8478	0.08942	0.3217:0.0:0.5151:0.1633	.	188;176	O00421-2;O00421	.;CCRL2_HUMAN	N	176;188;176;176;176	ENSP00000381994:D176N;ENSP00000349967:D188N;ENSP00000383677:D176N;ENSP00000414957:D176N;ENSP00000383678:D176N	ENSP00000349967:D188N	D	+	1	0	CCRL2	46425100	0.000000	0.05858	0.000000	0.03702	0.255000	0.26057	-0.527000	0.06200	-0.113000	0.11958	0.491000	0.48974	GAC	CCRL2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000121797		0.453	CCRL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCRL2	HGNC	protein_coding	OTTHUMT00000343909.2	67	0.00	0	G			46450096	46450096	+1	no_errors	ENST00000357392	ensembl	human	known	69_37n	missense	92	13.21	14	SNP	0.000	A
CCT2	10576	genome.wustl.edu	37	12	69987312	69987312	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:69987312G>A	ENST00000299300.6	+	10	1089	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K	CCT2_ENST00000544368.2_Missense_Mutation_p.E301K|CCT2_ENST00000543146.2_Missense_Mutation_p.E254K	NM_006431.2	NP_006422.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	301					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)	p.E301*(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TAATTATCCTGAACAGCTCTT	0.358																																						dbGAP											1	Substitution - Nonsense(1)	lung(1)											103.0	98.0	99.0					12																	69987312		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF026293	CCDS8991.1, CCDS55843.1	12q14	2011-09-02						"""Heat Shock Proteins / Chaperonins"""	1615	protein-coding gene	gene with protein product		605139				9819444	Standard	NM_001198842		Approved	Cctb	uc001svb.1	P78371	OTTHUMG00000169383	ENST00000299300.6:c.901G>A	12.37:g.69987312G>A	ENSP00000299300:p.Glu301Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K402|B5BTY7|B7Z243|B7Z7K4|B7ZAT2|Q14D36|Q6IAT3	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_beta	p.E301K	ENST00000299300.6	37	c.901	CCDS8991.1	12	.	.	.	.	.	.	.	.	.	.	G	36	5.922449	0.97105	.	.	ENSG00000166226	ENST00000299300;ENST00000544368;ENST00000543146	T;T;T	0.78481	-1.18;-1.18;-1.18	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.92341	0.7570	H	0.95079	3.62	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.93;1.0	D	0.93717	0.7029	9	.	.	.	-1.9434	20.2985	0.98592	0.0:0.0:1.0:0.0	.	301;301	F5GWF6;P78371	.;TCPB_HUMAN	K	301;301;254	ENSP00000299300:E301K;ENSP00000441847:E301K;ENSP00000445471:E254K	.	E	+	1	0	CCT2	68273579	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.407000	0.97325	2.793000	0.96121	0.655000	0.94253	GAA	CCT2	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_beta	ENSG00000166226		0.358	CCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT2	HGNC	protein_coding	OTTHUMT00000403818.1	178	0.00	0	G	NM_006431		69987312	69987312	+1	no_errors	ENST00000299300	ensembl	human	known	69_37n	missense	154	19.37	37	SNP	1.000	A
CCT6B	10693	genome.wustl.edu	37	17	33258059	33258059	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:33258059C>T	ENST00000314144.5	-	12	1474	c.1359G>A	c.(1357-1359)caG>caA	p.Q453Q	CCT6B_ENST00000421975.3_Silent_p.Q416Q|CCT6B_ENST00000436961.3_Silent_p.Q408Q	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	453					chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)	chaperonin-containing T-complex (GO:0005832)	ATP binding (GO:0005524)|protein transporter activity (GO:0008565)|unfolded protein binding (GO:0051082)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				AACCAGCATTCTGAGCAAGAA	0.308																																						dbGAP											0													83.0	76.0	78.0					17																	33258059		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D78333	CCDS32617.1, CCDS54105.1, CCDS54106.1	17q	2011-09-02			ENSG00000132141	ENSG00000132141		"""Heat Shock Proteins / Chaperonins"""	1621	protein-coding gene	gene with protein product		610730				8812458, 9013858	Standard	NM_006584		Approved	Cctz2, TSA303	uc002hig.3	Q92526		ENST00000314144.5:c.1359G>A	17.37:g.33258059C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DX20|B4DYB0|Q8TC34	Silent	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_zeta	p.Q453	ENST00000314144.5	37	c.1359	CCDS32617.1	17																																																																																			CCT6B	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_zeta	ENSG00000132141		0.308	CCT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT6B	HGNC	protein_coding	OTTHUMT00000448014.1	98	0.00	0	C	NM_006584		33258059	33258059	-1	no_errors	ENST00000314144	ensembl	human	known	69_37n	silent	33	36.54	19	SNP	1.000	T
CCT8	10694	genome.wustl.edu	37	21	30434565	30434565	+	Splice_Site	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr21:30434565C>G	ENST00000286788.4	-	11	1303		c.e11-1		CCT8_ENST00000542732.1_Splice_Site|CCT8_ENST00000540844.1_Splice_Site|CCT8_ENST00000470450.1_Splice_Site|AF129075.5_ENST00000457162.2_RNA	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)						'de novo' posttranslational protein folding (GO:0051084)|ATP catabolic process (GO:0006200)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	aggresome (GO:0016235)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						TCTTCCTTTTCTATCAAAAAA	0.358																																						dbGAP											0													112.0	107.0	109.0					21																	30434565		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			Z37163	CCDS33528.1, CCDS68180.1	21q21.3	2011-09-02			ENSG00000156261	ENSG00000156261		"""Heat Shock Proteins / Chaperonins"""	1623	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 112"""	C21orf112		7890169	Standard	NM_006585		Approved	Cctq, PRED71	uc002ynb.3	P50990	OTTHUMG00000044595	ENST00000286788.4:c.1097-1G>C	21.37:g.30434565C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NN54|B4DEM7|B4DQH4|Q4VBP8	Splice_Site	SNP	-	e11-1	ENST00000286788.4	37	c.1097-1	CCDS33528.1	21	.	.	.	.	.	.	.	.	.	.	C	17.82	3.483202	0.63962	.	.	ENSG00000156261	ENST00000389159;ENST00000286788;ENST00000542732;ENST00000540844;ENST00000431234	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1736	0.93590	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CCT8	29356436	1.000000	0.71417	1.000000	0.80357	0.734000	0.41952	7.183000	0.77697	2.836000	0.97738	0.655000	0.94253	.	CCT8	-	-	ENSG00000156261		0.358	CCT8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT8	HGNC	protein_coding	OTTHUMT00000171822.1	154	0.00	0	C		Intron	30434565	30434565	-1	no_errors	ENST00000286788	ensembl	human	known	69_37n	splice_site	120	25.00	40	SNP	1.000	G
CD101	9398	genome.wustl.edu	37	1	117556285	117556285	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:117556285C>G	ENST00000256652.4	+	4	1157	c.1099C>G	c.(1099-1101)Ctg>Gtg	p.L367V	CD101_ENST00000369470.1_Missense_Mutation_p.L367V	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	367	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.L367V(1)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GATCTTCTCTCTGGGCCCAGA	0.517																																						dbGAP											1	Substitution - Missense(1)	lung(1)											73.0	75.0	74.0					1																	117556285		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5949	protein-coding gene	gene with protein product		604516	"""immunoglobulin superfamily, member 2"""	IGSF2		7722300	Standard	NM_004258		Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.1099C>G	1.37:g.117556285C>G	ENSP00000256652:p.Leu367Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15856	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.L367V	ENST00000256652.4	37	c.1099	CCDS891.1	1	.	.	.	.	.	.	.	.	.	.	C	3.859	-0.030355	0.07543	.	.	ENSG00000134256	ENST00000256652;ENST00000369470	T;T	0.02369	4.32;4.32	5.85	2.54	0.30619	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.106060	0.06860	N	0.798814	T	0.00356	0.0011	N	0.01705	-0.755	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.36601	-0.9741	10	0.02654	T	1	0.0021	6.5171	0.22254	0.1853:0.162:0.6526:0.0	.	367	Q93033	IGSF2_HUMAN	V	367	ENSP00000256652:L367V;ENSP00000358482:L367V	ENSP00000256652:L367V	L	+	1	2	CD101	117357808	0.009000	0.17119	0.619000	0.29118	0.201000	0.24016	1.706000	0.37878	0.820000	0.34516	-0.165000	0.13383	CTG	CD101	-	smart_Ig_V-set_subgr,smart_Ig_sub,pfscan_Ig-like	ENSG00000134256		0.517	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CD101	HGNC	protein_coding	OTTHUMT00000033274.1	73	0.00	0	C	NM_004258		117556285	117556285	+1	no_errors	ENST00000256652	ensembl	human	known	69_37n	missense	55	34.52	29	SNP	0.190	G
CD109	135228	genome.wustl.edu	37	6	74472525	74472525	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:74472525C>T	ENST00000287097.5	+	9	1029	c.917C>T	c.(916-918)tCa>tTa	p.S306L	CD109_ENST00000422508.2_Missense_Mutation_p.S229L|CD109_ENST00000437994.2_Missense_Mutation_p.S306L			Q6YHK3	CD109_HUMAN	CD109 molecule	306					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATGGATTCTTCAAATGGACTT	0.328																																						dbGAP											0													114.0	116.0	115.0					6																	74472525		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.917C>T	6.37:g.74472525C>T	ENSP00000287097:p.Ser306Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.S306L	ENST00000287097.5	37	c.917	CCDS4982.1	6	.	.	.	.	.	.	.	.	.	.	C	4.536	0.099502	0.08681	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.23754	1.89;2.11;1.89	4.92	4.05	0.47172	.	64.898400	0.00883	U	0.002149	T	0.07458	0.0188	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.24963	0.115;0.092;0.004;0.056	B;B;B;B	0.26969	0.069;0.075;0.008;0.013	T	0.30966	-0.9960	10	0.25751	T	0.34	.	12.0003	0.53226	0.0:0.9146:0.0:0.0854	.	229;306;306;306	Q6YHK3-2;Q6YHK3-3;Q6YHK3-4;Q6YHK3	.;.;.;CD109_HUMAN	L	306;229;306	ENSP00000388062:S306L;ENSP00000404475:S229L;ENSP00000287097:S306L	ENSP00000287097:S306L	S	+	2	0	CD109	74529246	0.004000	0.15560	0.094000	0.20943	0.714000	0.41099	0.917000	0.28665	1.279000	0.44446	0.561000	0.74099	TCA	CD109	-	NULL	ENSG00000156535		0.328	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD109	HGNC	protein_coding	OTTHUMT00000041230.3	135	0.00	0	C	NM_133493		74472525	74472525	+1	no_errors	ENST00000287097	ensembl	human	known	69_37n	missense	53	48.04	49	SNP	0.174	T
CD109	135228	genome.wustl.edu	37	6	74512982	74512982	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:74512982C>G	ENST00000287097.5	+	24	3030	c.2918C>G	c.(2917-2919)tCt>tGt	p.S973C	CD109_ENST00000422508.2_Missense_Mutation_p.S896C|CD109_ENST00000474094.1_3'UTR|CD109_ENST00000437994.2_Missense_Mutation_p.S973C			Q6YHK3	CD109_HUMAN	CD109 molecule	973					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GAAGATGGCTCTTTCAGTGCT	0.408																																						dbGAP											0													156.0	141.0	146.0					6																	74512982		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.2918C>G	6.37:g.74512982C>G	ENSP00000287097:p.Ser973Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.S973C	ENST00000287097.5	37	c.2918	CCDS4982.1	6	.	.	.	.	.	.	.	.	.	.	C	18.92	3.725053	0.68959	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.49432	0.78;0.78;0.78	4.18	3.31	0.37934	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.000000	0.85682	D	0.000000	T	0.67316	0.2880	M	0.92169	3.28	0.49299	D	0.999779	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.76231	-0.3035	10	0.87932	D	0	.	12.1233	0.53903	0.0:0.9163:0.0:0.0837	.	896;973;973	Q6YHK3-2;Q6YHK3-4;Q6YHK3	.;.;CD109_HUMAN	C	973;896;973	ENSP00000388062:S973C;ENSP00000404475:S896C;ENSP00000287097:S973C	ENSP00000287097:S973C	S	+	2	0	CD109	74569703	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.857000	0.75455	1.107000	0.41642	0.655000	0.94253	TCT	CD109	-	pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase	ENSG00000156535		0.408	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD109	HGNC	protein_coding	OTTHUMT00000041230.3	184	0.00	0	C	NM_133493		74512982	74512982	+1	no_errors	ENST00000287097	ensembl	human	known	69_37n	missense	103	31.33	47	SNP	1.000	G
CD109	135228	genome.wustl.edu	37	6	74524785	74524785	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:74524785G>C	ENST00000287097.5	+	30	3962	c.3850G>C	c.(3850-3852)Gat>Cat	p.D1284H	CD109_ENST00000422508.2_Missense_Mutation_p.D1207H|CD109_ENST00000437994.2_Missense_Mutation_p.D1267H			Q6YHK3	CD109_HUMAN	CD109 molecule	1284					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTTTGATTTAGATGTTGCTGT	0.338																																						dbGAP											0													102.0	100.0	100.0					6																	74524785		2203	4298	6501	-	-	-	SO:0001583	missense	0			AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.3850G>C	6.37:g.74524785G>C	ENSP00000287097:p.Asp1284His	Somatic		WXS	Illumina GAIIx	Phase_IV	A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.D1284H	ENST00000287097.5	37	c.3850	CCDS4982.1	6	.	.	.	.	.	.	.	.	.	.	G	13.05	2.122069	0.37436	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.32515	1.45;1.45;1.45	5.45	5.45	0.79879	Alpha-macroglobulin, receptor-binding (2);	0.371203	0.30820	N	0.008809	T	0.37100	0.0991	L	0.55743	1.74	0.35032	D	0.758864	D;P;D	0.69078	0.997;0.616;0.982	D;B;P	0.66979	0.948;0.343;0.813	T	0.08827	-1.0703	10	0.34782	T	0.22	.	13.1535	0.59503	0.0824:0.0:0.9176:0.0	.	1207;1267;1284	Q6YHK3-2;Q6YHK3-4;Q6YHK3	.;.;CD109_HUMAN	H	1267;1207;1284	ENSP00000388062:D1267H;ENSP00000404475:D1207H;ENSP00000287097:D1284H	ENSP00000287097:D1284H	D	+	1	0	CD109	74581506	1.000000	0.71417	1.000000	0.80357	0.151000	0.21798	2.744000	0.47450	2.838000	0.97847	0.585000	0.79938	GAT	CD109	-	superfamily_A-macroglobulin_rcpt-bd	ENSG00000156535		0.338	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD109	HGNC	protein_coding	OTTHUMT00000041230.3	117	0.00	0	G	NM_133493		74524785	74524785	+1	no_errors	ENST00000287097	ensembl	human	known	69_37n	missense	78	19.59	19	SNP	1.000	C
CD163L1	283316	genome.wustl.edu	37	12	7525937	7525937	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:7525937C>T	ENST00000313599.3	-	14	3766	c.3709G>A	c.(3709-3711)Gag>Aag	p.E1237K	CD163L1_ENST00000416109.2_Missense_Mutation_p.E1247K|CD163L1_ENST00000544331.1_5'Flank|CD163L1_ENST00000396630.1_Missense_Mutation_p.E1237K			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1237	SRCR 11. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.E1237Q(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						ATCCAGGTCTCTTCTGCTGGG	0.458																																						dbGAP											1	Substitution - Missense(1)	lung(1)											91.0	84.0	86.0					12																	7525937		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.3709G>A	12.37:g.7525937C>T	ENSP00000315945:p.Glu1237Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt	p.E1237K	ENST00000313599.3	37	c.3709	CCDS8577.1	12	.	.	.	.	.	.	.	.	.	.	C	22.9	4.351584	0.82132	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.35236	1.32;1.32;1.32	2.25	1.34	0.21922	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.221684	0.21871	U	0.067898	T	0.53254	0.1785	M	0.73598	2.24	0.09310	N	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.998	T	0.34850	-0.9812	10	0.62326	D	0.03	.	6.9808	0.24702	0.0:0.8448:0.0:0.1552	.	1247;1237	E7EVK4;Q9NR16	.;C163B_HUMAN	K	1237;1247;1237	ENSP00000315945:E1237K;ENSP00000393474:E1247K;ENSP00000379871:E1237K	ENSP00000315945:E1237K	E	-	1	0	CD163L1	7417204	1.000000	0.71417	0.004000	0.12327	0.987000	0.75469	6.237000	0.72345	0.486000	0.27676	0.455000	0.32223	GAG	CD163L1	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt	ENSG00000177675		0.458	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD163L1	HGNC	protein_coding	OTTHUMT00000399329.1	55	0.00	0	C	NM_174941		7525937	7525937	-1	no_errors	ENST00000313599	ensembl	human	known	69_37n	missense	26	31.58	12	SNP	0.301	T
CD163L1	283316	genome.wustl.edu	37	12	7586195	7586195	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:7586195C>A	ENST00000313599.3	-	3	277	c.220G>T	c.(220-222)Gat>Tat	p.D74Y	CD163L1_ENST00000416109.2_Missense_Mutation_p.D74Y|CD163L1_ENST00000396630.1_Missense_Mutation_p.D74Y			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	74	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CACCCATCATCACACACAGTC	0.512																																						dbGAP											0													232.0	171.0	192.0					12																	7586195		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.220G>T	12.37:g.7586195C>A	ENSP00000315945:p.Asp74Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt	p.D74Y	ENST00000313599.3	37	c.220	CCDS8577.1	12	.	.	.	.	.	.	.	.	.	.	C	19.84	3.902492	0.72754	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.36340	1.26;1.26;1.26	2.22	1.26	0.21427	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	0.315120	0.20766	U	0.086076	T	0.65512	0.2698	H	0.95645	3.7	0.31150	N	0.705582	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.984	T	0.68511	-0.5389	10	0.87932	D	0	.	8.5234	0.33291	0.0:0.7575:0.2425:0.0	.	74;74	E7EVK4;Q9NR16	.;C163B_HUMAN	Y	74	ENSP00000315945:D74Y;ENSP00000393474:D74Y;ENSP00000379871:D74Y	ENSP00000315945:D74Y	D	-	1	0	CD163L1	7477462	1.000000	0.71417	0.036000	0.18154	0.763000	0.43281	1.488000	0.35551	0.436000	0.26393	0.563000	0.77884	GAT	CD163L1	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt	ENSG00000177675		0.512	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD163L1	HGNC	protein_coding	OTTHUMT00000399329.1	79	0.00	0	C	NM_174941		7586195	7586195	-1	no_errors	ENST00000313599	ensembl	human	known	69_37n	missense	41	29.31	17	SNP	0.998	A
CD1A	909	genome.wustl.edu	37	1	158225878	158225878	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:158225878G>A	ENST00000289429.5	+	3	943	c.410G>A	c.(409-411)gGa>gAa	p.G137E		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	137					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	GCTTATCAAGGATCAGACTTT	0.453																																						dbGAP											0													94.0	88.0	90.0					1																	158225878		2203	4300	6503	-	-	-	SO:0001583	missense	0			M28825	CCDS1174.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158477	ENSG00000158477		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1634	protein-coding gene	gene with protein product		188370	"""CD1A antigen, a polypeptide"", ""CD1a antigen"""	CD1		2447586, 2784820	Standard	NM_001763		Approved		uc001frt.3	P06126	OTTHUMG00000017512	ENST00000289429.5:c.410G>A	1.37:g.158225878G>A	ENSP00000289429:p.Gly137Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DVD7|Q13962|Q5TDJ8|Q9UMM4|Q9Y5M5	Missense_Mutation	SNP	pfam_Ig_C1-set,pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like	p.G137E	ENST00000289429.5	37	c.410	CCDS1174.1	1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.569340	0.45798	.	.	ENSG00000158477	ENST00000289429	T	0.61510	0.1	4.35	2.48	0.30137	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.000000	0.39985	N	0.001219	T	0.60130	0.2245	M	0.77103	2.36	0.19575	N	0.999969	D	0.89917	1.0	D	0.97110	1.0	T	0.53315	-0.8456	10	0.62326	D	0.03	-20.9555	6.9031	0.24293	0.2108:0.0:0.7892:0.0	.	137	P06126	CD1A_HUMAN	E	137	ENSP00000289429:G137E	ENSP00000289429:G137E	G	+	2	0	CD1A	156492502	0.981000	0.34729	0.154000	0.22540	0.002000	0.02628	2.467000	0.45093	0.487000	0.27698	-0.232000	0.12228	GGA	CD1A	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog	ENSG00000158477		0.453	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD1A	HGNC	protein_coding	OTTHUMT00000046349.2	60	0.00	0	G	NM_001763		158225878	158225878	+1	no_errors	ENST00000289429	ensembl	human	known	69_37n	missense	63	18.18	14	SNP	0.324	A
CD200	4345	genome.wustl.edu	37	3	112066509	112066509	+	Silent	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:112066509C>A	ENST00000315711.8	+	4	583	c.526C>A	c.(526-528)Cgg>Agg	p.R176R	CD200_ENST00000383681.3_Silent_p.R102R|CD200_ENST00000473539.1_Silent_p.R201R	NM_005944.5	NP_005935.4	P41217	OX2G_HUMAN	CD200 molecule	176	Ig-like C2-type.				regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05)				GAAGGTCCCTCGGTCAGGGAT	0.507																																						dbGAP											0													121.0	121.0	121.0					3																	112066509		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS2965.1, CCDS33818.1	3q13.2	2013-09-20	2006-03-28	2004-09-01	ENSG00000091972	ENSG00000091972		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7203	protein-coding gene	gene with protein product		155970	"""antigen identified by monoclonal antibody MRC OX-2"", ""CD200 antigen"""	MOX1, MOX2			Standard	XM_005247482		Approved	MRC, OX-2	uc003dyw.3	P41217	OTTHUMG00000159248	ENST00000315711.8:c.526C>A	3.37:g.112066509C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQI1|B4DLW9|D3DN65|Q6J2Q6|Q6PIQ4|Q8TB85|Q9H3J3	Silent	SNP	pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.R201	ENST00000315711.8	37	c.601	CCDS2965.1	3																																																																																			CD200	-	pfam_Immunoglobulin	ENSG00000091972		0.507	CD200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD200	HGNC	protein_coding	OTTHUMT00000354078.1	104	0.00	0	C			112066509	112066509	+1	no_errors	ENST00000473539	ensembl	human	known	69_37n	silent	107	20.74	28	SNP	0.001	A
CD244	51744	genome.wustl.edu	37	1	160811287	160811287	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:160811287G>C	ENST00000368033.3	-	3	465	c.383C>G	c.(382-384)tCt>tGt	p.S128C	CD244_ENST00000368032.2_Intron|CD244_ENST00000368034.4_Intron|CD244_ENST00000481677.1_5'Flank|CD244_ENST00000322302.7_Intron			Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	128				ESLLPDK -> GMAMCPM (in Ref. 10; AAK50015). {ECO:0000305}.	blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TGGAAGCAGAGATTCTGATCA	0.488																																						dbGAP											0													45.0	49.0	48.0					1																	160811287		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF105261	CCDS1210.1, CCDS53398.1, CCDS53399.1	1q23.1	2013-01-11	2006-03-29		ENSG00000122223	ENSG00000122223		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18171	protein-coding gene	gene with protein product		605554	"""natural killer cell receptor 2B4"", ""CD244 natural killer cell receptor 2B4"""			3772297, 10458320	Standard	NM_016382		Approved	2B4, NAIL, NKR2B4, Nmrk, SLAMF4	uc009wtq.3	Q9BZW8	OTTHUMG00000028606	ENST00000368033.3:c.383C>G	1.37:g.160811287G>C	ENSP00000357012:p.Ser128Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VYI2|Q5VYI6|Q5VYI7|Q96T47|Q9NQD2|Q9NQD3|Q9Y288	Missense_Mutation	SNP	pfam_NK_rcpt_2B4_Ig_dom,pfscan_Ig-like	p.S128C	ENST00000368033.3	37	c.383	CCDS53399.1	1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.277830	0.59758	.	.	ENSG00000122223	ENST00000368033	T	0.38240	1.15	4.89	4.89	0.63831	.	0.256266	0.20750	U	0.086366	T	0.33760	0.0874	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.64595	0.927	T	0.04053	-1.0981	9	.	.	.	-5.597	13.9264	0.63966	0.0:0.0:1.0:0.0	.	128	Q9BZW8	CD244_HUMAN	C	128	ENSP00000357012:S128C	.	S	-	2	0	CD244	159077911	0.998000	0.40836	0.999000	0.59377	0.937000	0.57800	1.044000	0.30329	2.431000	0.82371	0.655000	0.94253	TCT	CD244	-	NULL	ENSG00000122223		0.488	CD244-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD244	HGNC	protein_coding	OTTHUMT00000071469.1	36	0.00	0	G	NM_016382		160811287	160811287	-1	no_errors	ENST00000368033	ensembl	human	known	69_37n	missense	22	50.00	22	SNP	1.000	C
CD248	57124	genome.wustl.edu	37	11	66082629	66082629	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:66082629G>C	ENST00000311330.3	-	1	1886	c.1870C>G	c.(1870-1872)Cag>Gag	p.Q624E	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	624	Pro-rich.				anatomical structure regression (GO:0060033)|cell migration (GO:0016477)|lymph node development (GO:0048535)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|extracellular matrix binding (GO:0050840)	p.Q624*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26						GTGGGGCTCTGAGAGGGCAGG	0.627																																						dbGAP											1	Substitution - Nonsense(1)	breast(1)											48.0	57.0	54.0					11																	66082629		2200	4295	6495	-	-	-	SO:0001583	missense	0			AF279142	CCDS8134.1	11q13	2006-04-12	2006-03-28	2005-02-11	ENSG00000174807	ENSG00000174807		"""CD molecules"""	18219	protein-coding gene	gene with protein product	"""endosialin"", ""tumor endothelial marker 1"""	606064	"""CD164 sialomucin-like 1"", ""CD248 antigen, endosialin"""	CD164L1		10947988, 11084048	Standard	NM_020404		Approved	TEM1	uc001ohm.1	Q9HCU0	OTTHUMG00000167073	ENST00000311330.3:c.1870C>G	11.37:g.66082629G>C	ENSP00000308117:p.Gln624Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M2V5|Q3SX55|Q96KB6	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_EGF-like_Ca-bd,superfamily_C-type_lectin_fold,smart_C-type_lectin,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_C-type_lectin	p.Q624E	ENST00000311330.3	37	c.1870	CCDS8134.1	11	.	.	.	.	.	.	.	.	.	.	G	7.977	0.750369	0.15778	.	.	ENSG00000174807	ENST00000311330	D	0.90563	-2.69	3.13	1.11	0.20524	.	1.328570	0.06301	U	0.701018	D	0.86657	0.5985	L	0.46157	1.445	0.09310	N	0.999998	B	0.02656	0.0	B	0.04013	0.001	T	0.68239	-0.5461	10	0.19590	T	0.45	-0.766	10.6545	0.45667	0.0:0.3703:0.6297:0.0	.	624	Q9HCU0	CD248_HUMAN	E	624	ENSP00000308117:Q624E	ENSP00000308117:Q624E	Q	-	1	0	CD248	65839205	0.124000	0.22315	0.152000	0.22495	0.481000	0.33189	2.033000	0.41136	0.131000	0.18576	0.460000	0.39030	CAG	CD248	-	NULL	ENSG00000174807		0.627	CD248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD248	HGNC	protein_coding	OTTHUMT00000392922.2	78	0.00	0	G	NM_020404		66082629	66082629	-1	no_errors	ENST00000311330	ensembl	human	known	69_37n	missense	140	14.11	23	SNP	0.405	C
CD300A	11314	genome.wustl.edu	37	17	72470749	72470749	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:72470749C>A	ENST00000360141.3	+	3	746	c.458C>A	c.(457-459)tCc>tAc	p.S153Y	CD300A_ENST00000361933.3_Intron|CD300A_ENST00000310828.5_Missense_Mutation_p.S40Y|CD300A_ENST00000577511.1_Missense_Mutation_p.S23Y|CD300A_ENST00000392625.3_Missense_Mutation_p.S40Y	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	153					cell adhesion (GO:0007155)|immune system process (GO:0002376)|negative regulation of activation of JAK2 kinase activity (GO:1902569)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of eosinophil activation (GO:1902567)|negative regulation of eosinophil migration (GO:2000417)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell activation involved in immune response (GO:0033007)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of neutrophil activation (GO:1902564)|negative regulation of NK T cell activation (GO:0051134)|negative regulation of phagocytosis, engulfment (GO:0060101)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|regulation of T cell receptor signaling pathway (GO:0050856)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)|signaling receptor activity (GO:0038023)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						CCTGTATCATCCACTACCCTG	0.522																																						dbGAP											0													201.0	145.0	164.0					17																	72470749		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC032352	CCDS32720.1, CCDS58590.1	17q25.2	2013-01-11	2006-03-28		ENSG00000167851	ENSG00000167851		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	19319	protein-coding gene	gene with protein product		606790	"""CD300a antigen"""			9701027, 10746781	Standard	NM_007261		Approved	Irp60, CMRF35H, CMRF-35-H9, IRC1, IRC2, IGSF12	uc002jkv.4	Q9UGN4	OTTHUMG00000067612	ENST00000360141.3:c.458C>A	17.37:g.72470749C>A	ENSP00000353259:p.Ser153Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MW96|O95100|Q9HD97|Q9P0F3|Q9UBK4|Q9UMS9|Q9UMT0	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.S153Y	ENST00000360141.3	37	c.458	CCDS32720.1	17	.	.	.	.	.	.	.	.	.	.	C	11.33	1.608336	0.28623	.	.	ENSG00000167851	ENST00000360141;ENST00000392625;ENST00000310828	T;T	0.49432	4.09;0.78	2.79	-2.47	0.06442	.	1.332560	0.05241	N	0.512162	T	0.29620	0.0739	L	0.29908	0.895	0.09310	N	1	B;B;B	0.31459	0.324;0.192;0.218	B;B;B	0.27170	0.077;0.043;0.035	T	0.13899	-1.0492	10	0.36615	T	0.2	.	2.9467	0.05848	0.1965:0.3868:0.0:0.4166	.	40;40;153	Q9UGN4-4;Q9UGN4-2;Q9UGN4	.;.;CLM8_HUMAN	Y	153;40;40	ENSP00000353259:S153Y;ENSP00000308188:S40Y	ENSP00000308188:S40Y	S	+	2	0	CD300A	69982344	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.444000	0.06854	-0.474000	0.06862	0.561000	0.74099	TCC	CD300A	-	NULL	ENSG00000167851		0.522	CD300A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD300A	HGNC	protein_coding	OTTHUMT00000145091.1	68	0.00	0	C	NM_007261		72470749	72470749	+1	no_errors	ENST00000360141	ensembl	human	known	69_37n	missense	119	15.00	21	SNP	0.000	A
CD300LD	100131439	genome.wustl.edu	37	17	72584893	72584893	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:72584893C>G	ENST00000375352.1	-	2	216	c.136G>C	c.(136-138)Gag>Cag	p.E46Q	C17orf77_ENST00000392620.1_Intron|C17orf77_ENST00000328023.2_5'Flank	NM_001115152.1	NP_001108624.1	Q6UXZ3	CLM4_HUMAN	CD300 molecule-like family member d	46	Ig-like V-type.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(1)|lung(2)|prostate(1)|stomach(1)	5						AAGTAGGTCTCCCAGCCTGAG	0.478																																						dbGAP											0													157.0	132.0	139.0					17																	72584893		1568	3582	5150	-	-	-	SO:0001583	missense	0				CCDS42379.1	17q25.1	2014-05-15			ENSG00000204345	ENSG00000204345		"""Immunoglobulin superfamily / V-set domain containing"""	16848	protein-coding gene	gene with protein product						22291008	Standard	NM_001115152		Approved	CMRF35A4, CD300D	uc002jkz.2	Q6UXZ3	OTTHUMG00000067614	ENST00000375352.1:c.136G>C	17.37:g.72584893C>G	ENSP00000364501:p.Glu46Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.E46Q	ENST00000375352.1	37	c.136	CCDS42379.1	17	.	.	.	.	.	.	.	.	.	.	C	14.25	2.477912	0.44044	.	.	ENSG00000204345	ENST00000375352	T	0.66099	-0.19	4.67	-3.76	0.04359	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.693696	0.12198	N	0.490505	T	0.67608	0.2911	M	0.73319	2.225	0.09310	N	0.999999	P	0.51653	0.947	P	0.60236	0.871	T	0.59963	-0.7355	10	0.40728	T	0.16	.	6.5717	0.22543	0.0:0.4523:0.1222:0.4255	.	46	Q6UXZ3	CLM4_HUMAN	Q	46	ENSP00000364501:E46Q	ENSP00000364501:E46Q	E	-	1	0	CD300LD	70096488	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.663000	0.01968	-0.601000	0.05783	0.561000	0.74099	GAG	CD300LD	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	ENSG00000204345		0.478	CD300LD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD300LD	HGNC	protein_coding	OTTHUMT00000145099.1	105	0.00	0	C	NM_001115152		72584893	72584893	-1	no_errors	ENST00000375352	ensembl	human	known	69_37n	missense	178	16.43	35	SNP	0.001	G
CD33	945	genome.wustl.edu	37	19	51728396	51728396	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:51728396C>G	ENST00000262262.4	+	1	43	c.22C>G	c.(22-24)Ccc>Gcc	p.P8A	CD33_ENST00000436584.2_Missense_Mutation_p.P8A|CD33_ENST00000421133.2_Missense_Mutation_p.P8A|CD33_ENST00000391796.3_Missense_Mutation_p.P8A	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	8					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	GCTACTGCTGCCCCTGCTGTG	0.632																																						dbGAP											0													34.0	36.0	36.0					19																	51728396		2203	4300	6503	-	-	-	SO:0001583	missense	0			M23197	CCDS33084.1, CCDS46157.1, CCDS54299.1	19q13.3	2013-01-29	2006-03-28		ENSG00000105383	ENSG00000105383		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1659	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 3"""	159590	"""CD33 antigen (gp67)"""			3139766, 9465907	Standard	NM_001772		Approved	SIGLEC3, SIGLEC-3, p67, FLJ00391	uc002pwa.2	P20138		ENST00000262262.4:c.22C>G	19.37:g.51728396C>G	ENSP00000262262:p.Pro8Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E3P8|C9JEN7|F8WAL2|Q8TD24	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like	p.P8A	ENST00000262262.4	37	c.22	CCDS33084.1	19	.	.	.	.	.	.	.	.	.	.	.	9.512	1.105891	0.20632	.	.	ENSG00000105383	ENST00000436584;ENST00000262262;ENST00000421133;ENST00000391796	T;T;T;T	0.35973	1.28;2.33;1.5;2.18	3.91	-1.27	0.09347	.	.	.	.	.	T	0.26231	0.0640	M	0.62723	1.935	0.09310	N	0.999998	B;B;B	0.26363	0.147;0.093;0.056	B;B;B	0.17433	0.014;0.018;0.014	T	0.28933	-1.0028	9	0.13470	T	0.59	.	4.553	0.12123	0.0:0.3788:0.3981:0.2231	.	8;8;8	C9JEN7;F8WAL2;P20138	.;.;CD33_HUMAN	A	8	ENSP00000403331:P8A;ENSP00000262262:P8A;ENSP00000410126:P8A;ENSP00000375673:P8A	ENSP00000262262:P8A	P	+	1	0	CD33	56420208	0.002000	0.14202	0.454000	0.27019	0.291000	0.27294	-0.816000	0.04477	0.090000	0.17273	-0.211000	0.12701	CCC	CD33	-	NULL	ENSG00000105383		0.632	CD33-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD33	HGNC	protein_coding	OTTHUMT00000464199.2	43	0.00	0	C	NM_001772		51728396	51728396	+1	no_errors	ENST00000262262	ensembl	human	known	69_37n	missense	56	21.13	15	SNP	0.397	G
CD34	947	genome.wustl.edu	37	1	208062090	208062090	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:208062090G>C	ENST00000310833.7	-	7	1230	c.909C>G	c.(907-909)gtC>gtG	p.V303V	CD34_ENST00000367036.3_Silent_p.V145V|CD34_ENST00000537704.1_Silent_p.V168V|CD34_ENST00000485761.1_5'UTR|CD34_ENST00000356522.4_Silent_p.V303V	NM_001025109.1	NP_001020280.1	P28906	CD34_HUMAN	CD34 molecule	303					cell motility (GO:0048870)|cell proliferation (GO:0008283)|endothelial cell proliferation (GO:0001935)|endothelium development (GO:0003158)|extracellular vesicular exosome assembly (GO:0071971)|glomerular endothelium development (GO:0072011)|glomerular filtration (GO:0003094)|glutamate metabolic process (GO:0006536)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|leukocyte migration (GO:0050900)|mesangial cell-matrix adhesion (GO:0035759)|metanephric glomerular mesangial cell differentiation (GO:0072254)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cellular response to heat (GO:1900035)|negative regulation of cellular response to hypoxia (GO:1900038)|negative regulation of gene expression (GO:0010629)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of neuron death (GO:1901215)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of tumor necrosis factor production (GO:0032720)|paracrine signaling (GO:0038001)|positive regulation of angiogenesis (GO:0045766)|positive regulation of gene expression (GO:0010628)|positive regulation of glial cell line-derived neurotrophic factor secretion (GO:1900168)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of odontogenesis (GO:0042482)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasculogenesis (GO:2001214)|regulation of blood pressure (GO:0008217)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|stem cell proliferation (GO:0072089)|tissue homeostasis (GO:0001894)|transdifferentiation (GO:0060290)|vascular wound healing (GO:0061042)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|glomerular endothelium fenestra (GO:0036053)|integral component of plasma membrane (GO:0005887)|intercellular bridge (GO:0045171)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|sulfate binding (GO:0043199)|transcription factor binding (GO:0008134)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						TGATGCCCAAGACAGCCAGCA	0.552																																						dbGAP											0													192.0	208.0	203.0					1																	208062090		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M81104	CCDS31011.1, CCDS31012.1	1q32	2008-02-05	2006-03-28		ENSG00000174059	ENSG00000174059		"""CD molecules"""	1662	protein-coding gene	gene with protein product		142230	"""CD34 antigen"""			1370171, 1374051	Standard	NM_001025109		Approved		uc001hgw.1	P28906	OTTHUMG00000036565	ENST00000310833.7:c.909C>G	1.37:g.208062090G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K664|Q15970|Q15971|Q5JTA3|Q5JTA4|Q9UJB1	Silent	SNP	pfam_CD34/Podocalyxin,prints_CD34	p.V303	ENST00000310833.7	37	c.909	CCDS31011.1	1																																																																																			CD34	-	pfam_CD34/Podocalyxin	ENSG00000174059		0.552	CD34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD34	HGNC	protein_coding	OTTHUMT00000088933.1	87	0.00	0	G	NM_001773		208062090	208062090	-1	no_errors	ENST00000310833	ensembl	human	known	69_37n	silent	111	17.78	24	SNP	0.150	C
CD36	948	genome.wustl.edu	37	7	80300480	80300480	+	Splice_Site	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:80300480G>A	ENST00000435819.1	+	13	1690	c.1006G>A	c.(1006-1008)Ggg>Agg	p.G336R	CD36_ENST00000447544.2_Splice_Site_p.G336R|CD36_ENST00000309881.7_Splice_Site_p.G336R|CD36_ENST00000394788.3_Splice_Site_p.G336R|CD36_ENST00000433696.2_Splice_Site_p.G297R|CD36_ENST00000534394.1_Splice_Site_p.G260R|CD36_ENST00000544133.1_Intron|CD36_ENST00000538969.1_Splice_Site_p.G276R|CD36_ENST00000432207.1_Splice_Site_p.G336R			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	336					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 cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular lipid metabolic process (GO:0044255)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to hydroperoxide (GO:0071447)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cGMP-mediated signaling (GO:0019934)|cholesterol transport (GO:0030301)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|lipoprotein transport (GO:0042953)|long-chain fatty acid import (GO:0044539)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle mediated signaling (GO:0055096)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitric oxide mediated signal transduction (GO:0007263)|phagocytosis, recognition (GO:0006910)|plasma lipoprotein particle clearance (GO:0034381)|plasma membrane long-chain fatty acid transport (GO:0015911)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood microparticle formation (GO:2000334)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of removal of superoxide radicals (GO:2000121)|response to stilbenoid (GO:0035634)|small molecule metabolic process (GO:0044281)|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)	cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|lipoprotein particle binding (GO:0071813)|lipoteichoic acid receptor activity (GO:0070892)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|thrombospondin receptor activity (GO:0070053)|transforming growth factor beta binding (GO:0050431)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						ATGCAAAGAAGGTGAGTAAAT	0.323																																						dbGAP											0																																										-	-	-	SO:0001630	splice_region_variant	0			Z32770	CCDS34673.1	7q11.2	2010-02-26	2006-03-28		ENSG00000135218	ENSG00000135218		"""CD molecules"""	1663	protein-coding gene	gene with protein product		173510	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)"""			7503937	Standard	NM_001001548		Approved	SCARB3, GPIV, FAT, GP4, GP3B	uc003uhg.4	P16671	OTTHUMG00000155383	ENST00000435819.1:c.1006+1G>A	7.37:g.80300480G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D9IX66|D9IX67|D9IX68|D9IX69|Q13966|Q16093|Q8TCV7|Q9BPZ8|Q9BQC2|Q9BZM8|Q9BZN3|Q9BZN4|Q9BZN5	Missense_Mutation	SNP	pfam_CD36,prints_CD36_antigen,prints_CD36	p.G336R	ENST00000435819.1	37	c.1006	CCDS34673.1	7	.	.	.	.	.	.	.	.	.	.	G	18.23	3.578097	0.65878	.	.	ENSG00000135218	ENST00000435819;ENST00000309881;ENST00000534394;ENST00000394788;ENST00000447544;ENST00000432207;ENST00000419819;ENST00000538969;ENST00000433696	T;T;T;T;T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06;-1.06;-1.06;-1.06;-1.06	5.57	4.58	0.56647	.	0.150329	0.64402	D	0.000012	T	0.79227	0.4410	M	0.82132	2.575	0.80722	D	1	B	0.32467	0.372	B	0.41466	0.358	T	0.77384	-0.2608	9	.	.	.	-21.6732	6.8329	0.23921	0.2499:0.0:0.7501:0.0	.	336	P16671	CD36_HUMAN	R	336;336;260;336;336;336;336;276;297	ENSP00000399421:G336R;ENSP00000308165:G336R;ENSP00000431296:G260R;ENSP00000378268:G336R;ENSP00000415743:G336R;ENSP00000411411:G336R;ENSP00000392298:G336R;ENSP00000439543:G276R;ENSP00000401863:G297R	.	G	+	1	0	CD36	80138416	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.495000	0.53280	2.617000	0.88574	0.484000	0.47621	GGG	CD36	-	pfam_CD36,prints_CD36	ENSG00000135218		0.323	CD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD36	HGNC	protein_coding	OTTHUMT00000339767.6	67	0.00	0	G	NM_001001547	Missense_Mutation	80300480	80300480	+1	no_errors	ENST00000309881	ensembl	human	known	69_37n	missense	34	44.26	27	SNP	0.997	A
CD47	961	genome.wustl.edu	37	3	107798886	107798886	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:107798886C>G	ENST00000361309.5	-	2	457	c.352G>C	c.(352-354)Gaa>Caa	p.E118Q	CD47_ENST00000355354.7_Missense_Mutation_p.E118Q	NM_001777.3	NP_001768.1	Q08722	CD47_HUMAN	CD47 molecule	118	Ig-like V-type.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|opsonization (GO:0008228)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of inflammatory response (GO:0050729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T cell activation (GO:0050870)|response to bacterium (GO:0009617)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thrombospondin receptor activity (GO:0070053)			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(3;0.0191)|Epithelial(53;0.118)			CTGGTTAATTCTGTTACTTCA	0.373																																						dbGAP											0													234.0	207.0	215.0					3																	107798886		1875	4124	5999	-	-	-	SO:0001583	missense	0				CCDS43125.1, CCDS43126.1	3q13.1-q13.2	2013-01-11	2006-03-28		ENSG00000196776	ENSG00000196776		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1682	protein-coding gene	gene with protein product	"""antigen identified by monoclonal antibody 1D8"", ""antigenic surface determinant protein OA3"", ""integrin associated protein"", ""Rh-related antigen"", ""leukocyte surface antigen CD47"", ""CD47 glycoprotein"""	601028	"""CD47 antigen (Rh-related antigen, integrin-associated signal transducer)"""	MER6		8294396, 2277087	Standard	XM_005247908		Approved	IAP, OA3	uc003dwt.1	Q08722	OTTHUMG00000044216	ENST00000361309.5:c.352G>C	3.37:g.107798886C>G	ENSP00000355361:p.Glu118Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K198|D3DN59|Q53Y71|Q96A60	Missense_Mutation	SNP	pfam_CD47_Vset,pfam_CD47_TM,pfscan_Ig-like	p.E118Q	ENST00000361309.5	37	c.352	CCDS43126.1	3	.	.	.	.	.	.	.	.	.	.	C	17.34	3.364985	0.61513	.	.	ENSG00000196776	ENST00000355354;ENST00000361309	T;T	0.02656	4.21;4.21	6.04	6.04	0.98038	Immunoglobulin-like (1);CD47 immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.073373	0.64402	D	0.000020	T	0.14787	0.0357	M	0.68952	2.095	0.41855	D	0.990199	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.997;0.997;0.998;0.998	T	0.00006	-1.2522	10	0.62326	D	0.03	.	17.496	0.87717	0.0:1.0:0.0:0.0	.	118;118;118;118	Q08722-2;Q08722-3;E9PB22;Q08722	.;.;.;CD47_HUMAN	Q	118	ENSP00000347512:E118Q;ENSP00000355361:E118Q	ENSP00000347512:E118Q	E	-	1	0	CD47	109281576	1.000000	0.71417	0.997000	0.53966	0.240000	0.25518	4.570000	0.60872	2.873000	0.98535	0.561000	0.74099	GAA	CD47	-	pfam_CD47_Vset,pfscan_Ig-like	ENSG00000196776		0.373	CD47-004	KNOWN	basic|CCDS	protein_coding	CD47	HGNC	protein_coding	OTTHUMT00000102793.1	165	0.00	0	C	NM_001777		107798886	107798886	-1	no_errors	ENST00000361309	ensembl	human	known	69_37n	missense	177	17.67	38	SNP	1.000	G
CD53	963	genome.wustl.edu	37	1	111437020	111437020	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:111437020G>C	ENST00000271324.5	+	4	436	c.324G>C	c.(322-324)caG>caC	p.Q108H	CD53_ENST00000429072.2_Missense_Mutation_p.Q108H|CD53_ENST00000497404.1_3'UTR	NM_000560.3|NM_001040033.1	NP_000551.1|NP_001035122.1	P19397	CD53_HUMAN	CD53 molecule	108					positive regulation of myoblast fusion (GO:1901741)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	17		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)		TATATGAACAGAAGGTAAGTT	0.398																																						dbGAP											0													232.0	186.0	201.0					1																	111437020		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC040693	CCDS829.1	1p13	2013-02-14	2006-03-28		ENSG00000143119	ENSG00000143119		"""CD molecules"", ""Tetraspanins"""	1686	protein-coding gene	gene with protein product		151525	"""CD53 antigen"""	MOX44		8319976	Standard	XM_006711053		Approved	TSPAN25	uc001dzw.3	P19397	OTTHUMG00000048020	ENST00000271324.5:c.324G>C	1.37:g.111437020G>C	ENSP00000271324:p.Gln108His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R905|Q5U0D6	Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.Q108H	ENST00000271324.5	37	c.324	CCDS829.1	1	.	.	.	.	.	.	.	.	.	.	G	11.23	1.577717	0.28180	.	.	ENSG00000143119	ENST00000429072;ENST00000271324	T;D	0.86769	-1.28;-2.17	5.78	1.48	0.22813	Tetraspanin, EC2 domain (1);	0.898360	0.09783	N	0.756386	T	0.74913	0.3779	L	0.33668	1.02	0.31973	N	0.606867	B;B	0.30793	0.295;0.005	B;B	0.41299	0.353;0.02	T	0.63761	-0.6564	10	0.59425	D	0.04	.	9.3694	0.38246	0.2882:0.0:0.7118:0.0	.	108;108	B4DQB5;P19397	.;CD53_HUMAN	H	108	ENSP00000412250:Q108H;ENSP00000271324:Q108H	ENSP00000271324:Q108H	Q	+	3	2	CD53	111238543	0.994000	0.37717	0.997000	0.53966	0.958000	0.62258	0.187000	0.16998	0.006000	0.14734	0.655000	0.94253	CAG	CD53	-	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2	ENSG00000143119		0.398	CD53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD53	HGNC	protein_coding	OTTHUMT00000032931.1	175	0.00	0	G	NM_000560		111437020	111437020	+1	no_errors	ENST00000271324	ensembl	human	known	69_37n	missense	132	28.65	53	SNP	0.997	C
CD5L	922	genome.wustl.edu	37	1	157804221	157804221	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:157804221C>T	ENST00000368174.4	-	4	790	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K	CD5L_ENST00000484609.1_5'Flank	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	232	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CACGTGTCTTCATCATGGTTG	0.463																																						dbGAP											0													50.0	43.0	46.0					1																	157804221		2203	4300	6503	-	-	-	SO:0001583	missense	0			U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"""apoptosis inhibitor 6"", ""CD5 antigen-like (scavenger receptor cysteine rich family)"""	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.694G>A	1.37:g.157804221C>T	ENSP00000357156:p.Glu232Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7M5|Q6UX63	Missense_Mutation	SNP	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_Srcr_rcpt,pfscan_Srcr_rcpt	p.E232K	ENST00000368174.4	37	c.694	CCDS1171.1	1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.596789	0.66332	.	.	ENSG00000073754	ENST00000368174	T	0.36878	1.23	4.97	3.06	0.35304	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.709719	0.12733	N	0.443705	T	0.26085	0.0636	M	0.82923	2.615	0.09310	N	0.999995	B	0.25904	0.137	B	0.34385	0.181	T	0.41251	-0.9519	10	0.66056	D	0.02	.	7.0553	0.25095	0.0:0.5743:0.335:0.0907	.	232	O43866	CD5L_HUMAN	K	232	ENSP00000357156:E232K	ENSP00000357156:E232K	E	-	1	0	CD5L	156070845	0.040000	0.19996	0.002000	0.10522	0.004000	0.04260	0.690000	0.25451	0.651000	0.30788	0.655000	0.94253	GAA	CD5L	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt	ENSG00000073754		0.463	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD5L	HGNC	protein_coding	OTTHUMT00000058346.1	28	0.00	0	C	NM_005894		157804221	157804221	-1	no_errors	ENST00000368174	ensembl	human	known	69_37n	missense	54	16.92	11	SNP	0.231	T
CD68	968	genome.wustl.edu	37	17	7483154	7483154	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:7483154C>T	ENST00000250092.6	+	2	287	c.76C>T	c.(76-78)Cac>Tac	p.H26Y	CD68_ENST00000380498.6_Intron|SENP3-EIF4A1_ENST00000579777.1_RNA|AC113189.5_ENST00000573187.1_RNA|AC113189.5_ENST00000417897.1_RNA|SNORD10_ENST00000459579.1_RNA|AC113189.5_ENST00000415124.1_RNA|AC113189.5_ENST00000572046.1_RNA|SNORA67_ENST00000384423.1_RNA	NM_001251.2	NP_001242.2	P34810	CD68_HUMAN	CD68 molecule	26	Mucin-like.				cellular response to organic substance (GO:0071310)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				endometrium(1)|lung(1)|skin(1)	3						TGACTGTCCTCACAAAAAATC	0.572																																						dbGAP											0													105.0	101.0	102.0					17																	7483154		2203	4300	6503	-	-	-	SO:0001583	missense	0			S57235	CCDS11114.1, CCDS58512.1	17p13	2011-11-24	2006-03-28		ENSG00000129226	ENSG00000129226		"""CD molecules"""	1693	protein-coding gene	gene with protein product	"""scavenger receptor class D, member 1"", ""CD68 antigen"", ""macrophage antigen CD68"""	153634	"""CD68 antigen"""			9790779	Standard	NM_001251		Approved	SCARD1, macrosialin, GP110, DKFZp686M18236, LAMP4	uc002ghv.3	P34810	OTTHUMG00000108146	ENST00000250092.6:c.76C>T	17.37:g.7483154C>T	ENSP00000250092:p.His26Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DVT4|Q53HR6|Q53XI3|Q96BI7	Missense_Mutation	SNP	pfam_Lysosome-assoc_membr_glycop,prints_Lysosome-assoc_membr_glycop	p.H26Y	ENST00000250092.6	37	c.76	CCDS11114.1	17	.	.	.	.	.	.	.	.	.	.	C	21.3	4.125255	0.77436	.	.	ENSG00000129226	ENST00000250092	T	0.38401	1.14	5.94	5.94	0.96194	.	0.196568	0.36703	N	0.002442	T	0.42040	0.1185	L	0.32530	0.975	0.80722	D	1	D	0.61697	0.99	P	0.53313	0.723	T	0.18053	-1.0349	10	0.59425	D	0.04	-15.3652	15.8634	0.79043	0.0:1.0:0.0:0.0	.	26	P34810	CD68_HUMAN	Y	26	ENSP00000250092:H26Y	ENSP00000250092:H26Y	H	+	1	0	CD68	7423878	0.969000	0.33509	0.996000	0.52242	0.637000	0.38172	2.236000	0.43052	2.826000	0.97356	0.561000	0.74099	CAC	CD68	-	NULL	ENSG00000129226		0.572	CD68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD68	HGNC	protein_coding	OTTHUMT00000226949.3	131	0.00	0	C	NM_001251		7483154	7483154	+1	no_errors	ENST00000250092	ensembl	human	known	69_37n	missense	93	42.94	70	SNP	0.996	T
CD70	970	genome.wustl.edu	37	19	6586069	6586069	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:6586069C>T	ENST00000245903.3	-	3	693	c.544G>A	c.(544-546)Gat>Aat	p.D182N	CD70_ENST00000423145.3_Intron	NM_001252.3	NP_001243.1	P32970	CD70_HUMAN	CD70 molecule	182					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protease binding (GO:0002020)|receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|skin(1)	11						AAGGTCTCATCAGTGTTTCGG	0.493																																					Pancreas(183;2617 2876 10173 34193)	dbGAP											0													57.0	47.0	50.0					19																	6586069		2203	4300	6503	-	-	-	SO:0001583	missense	0			L08096	CCDS12170.1	19p13	2013-05-22	2006-10-27	2006-10-27		ENSG00000125726		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11937	protein-coding gene	gene with protein product		602840	"""tumor necrosis factor (ligand) superfamily, member 7"""	CD27LG, TNFSF7		8387892, 8120384	Standard	NM_001252		Approved	CD27L	uc002mfi.3	P32970		ENST00000245903.3:c.544G>A	19.37:g.6586069C>T	ENSP00000245903:p.Asp182Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DPR8|Q53XX4|Q96J57	Missense_Mutation	SNP	pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF	p.D182N	ENST00000245903.3	37	c.544	CCDS12170.1	19	.	.	.	.	.	.	.	.	.	.	C	14.56	2.571050	0.45798	.	.	ENSG00000125726	ENST00000245903	T	0.64085	-0.08	4.32	4.32	0.51571	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.000000	0.50627	D	0.000105	T	0.68742	0.3034	L	0.34521	1.04	0.30991	N	0.721366	D	0.89917	1.0	D	0.91635	0.999	T	0.71048	-0.4705	10	0.87932	D	0	.	12.6268	0.56634	0.0:1.0:0.0:0.0	.	182	P32970	CD70_HUMAN	N	182	ENSP00000245903:D182N	ENSP00000245903:D182N	D	-	1	0	CD70	6537069	0.891000	0.30450	0.091000	0.20842	0.008000	0.06430	1.847000	0.39299	2.126000	0.65437	0.556000	0.70494	GAT	CD70	-	pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF	ENSG00000125726		0.493	CD70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD70	HGNC	protein_coding	OTTHUMT00000457860.1	61	0.00	0	C			6586069	6586069	-1	no_errors	ENST00000245903	ensembl	human	known	69_37n	missense	65	23.53	20	SNP	0.829	T
CD72	971	genome.wustl.edu	37	9	35610685	35610685	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:35610685G>C	ENST00000396757.1	-	9	1180	c.1016C>G	c.(1015-1017)tCa>tGa	p.S339*	MIR4667_ENST00000578933.1_RNA|CD72_ENST00000259633.4_Nonsense_Mutation_p.S339*|CD72_ENST00000490239.1_5'UTR			P21854	CD72_HUMAN	CD72 molecule	339	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor binding (GO:0005102)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(5)|liver(1)|lung(6)	12			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ACATGACTCTGACTCCAGTGT	0.428																																						dbGAP											0													161.0	126.0	138.0					9																	35610685		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS6581.1	9p	2008-07-21	2006-03-28		ENSG00000137101	ENSG00000137101		"""CD molecules"""	1696	protein-coding gene	gene with protein product		107272	"""CD72 antigen"""			2044654, 1711157	Standard	NM_001782		Approved	LYB2, CD72b	uc003zxb.2	P21854	OTTHUMG00000019870	ENST00000396757.1:c.1016C>G	9.37:g.35610685G>C	ENSP00000379980:p.Ser339*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.S339*	ENST00000396757.1	37	c.1016	CCDS6581.1	9	.	.	.	.	.	.	.	.	.	.	G	12.16	1.853560	0.32791	.	.	ENSG00000137101	ENST00000396757;ENST00000396759;ENST00000259633	.	.	.	4.73	-6.68	0.01778	.	.	.	.	.	.	.	.	.	.	.	0.58432	A	0.999996	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	28.9912	6.1483	0.20298	0.2242:0.0:0.195:0.5809	.	.	.	.	X	339	.	ENSP00000259633:S339X	S	-	2	0	CD72	35600685	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.268000	0.00263	-1.823000	0.01210	-1.152000	0.01820	TCA	CD72	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000137101		0.428	CD72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD72	HGNC	protein_coding	OTTHUMT00000052336.1	64	0.00	0	G	NM_001782		35610685	35610685	-1	no_errors	ENST00000259633	ensembl	human	known	69_37n	nonsense	71	12.35	10	SNP	0.000	C
CD8A	925	genome.wustl.edu	37	2	87017578	87017578	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:87017578C>G	ENST00000409511.2	-	5	1306	c.276G>C	c.(274-276)aaG>aaC	p.K92N	CD8A_ENST00000456996.2_Missense_Mutation_p.K92N|CD8A_ENST00000538832.1_Missense_Mutation_p.K133N|CD8A_ENST00000409781.1_Missense_Mutation_p.K92N|CD8A_ENST00000352580.3_Missense_Mutation_p.K92N|CD8A_ENST00000283635.3_Missense_Mutation_p.K92N	NM_001145873.1	NP_001139345.1	P01732	CD8A_HUMAN	CD8a molecule	92	Ig-like V-type.				antigen processing and presentation (GO:0019882)|cytotoxic T cell differentiation (GO:0045065)|defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of calcium-mediated signaling (GO:0050850)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)|T cell mediated immunity (GO:0002456)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|MHC class I protein binding (GO:0042288)			lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	8						CCCCCAACCTCTTGCCCGAGA	0.632																																						dbGAP											0													63.0	72.0	69.0					2																	87017578		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1992.1, CCDS1993.1	2p12	2014-09-17	2006-03-28		ENSG00000153563	ENSG00000153563		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1706	protein-coding gene	gene with protein product		186910	"""CD8 antigen, alpha polypeptide (p32)"", ""T-cell surface glycoprotein CD8 alpha chain"""	CD8		1541829	Standard	NM_171827		Approved		uc002sru.3	P01732	OTTHUMG00000130265	ENST00000409511.2:c.276G>C	2.37:g.87017578C>G	ENSP00000386559:p.Lys92Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DT80|D6W5M8|Q13970|Q4ZG17	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.K133N	ENST00000409511.2	37	c.399	CCDS1992.1	2	.	.	.	.	.	.	.	.	.	.	C	10.22	1.291284	0.23564	.	.	ENSG00000153563	ENST00000456996;ENST00000352580;ENST00000283635;ENST00000409511;ENST00000538832;ENST00000409781	T;T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17;-0.17;-0.17	4.69	1.8	0.24995	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	3.555860	0.00357	N	0.000027	T	0.55940	0.1952	L	0.29908	0.895	0.09310	N	1	D;P;P	0.55800	0.973;0.708;0.929	P;B;B	0.47402	0.546;0.059;0.279	T	0.47394	-0.9121	10	0.21014	T	0.42	2.3983	7.1253	0.25469	0.0:0.4921:0.4059:0.102	.	133;92;92	B4DT80;P01732-2;P01732	.;.;CD8A_HUMAN	N	92;92;92;92;133;92	ENSP00000398868:K92N;ENSP00000321631:K92N;ENSP00000283635:K92N;ENSP00000386559:K92N;ENSP00000438371:K133N;ENSP00000387314:K92N	ENSP00000283635:K92N	K	-	3	2	CD8A	86871089	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.349000	0.07731	0.563000	0.29222	0.561000	0.74099	AAG	CD8A	-	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000153563		0.632	CD8A-006	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	CD8A	HGNC	protein_coding	OTTHUMT00000330784.3	21	0.00	0	C	NM_001768		87017578	87017578	-1	no_errors	ENST00000538832	ensembl	human	known	69_37n	missense	16	27.27	6	SNP	0.001	G
CDAN1	146059	genome.wustl.edu	37	15	43022933	43022933	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:43022933C>T	ENST00000356231.3	-	14	2060	c.2037G>A	c.(2035-2037)ctG>ctA	p.L679L		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	679					chromatin assembly (GO:0031497)|chromatin organization (GO:0006325)|negative regulation of DNA replication (GO:0008156)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		CTCGCTGCAGCAGAGTCCGCA	0.637																																						dbGAP											0													18.0	21.0	20.0					15																	43022933		2198	4285	6483	-	-	-	SO:0001819	synonymous_variant	0			AF525398	CCDS32209.1	15q15.2	2012-04-25	2012-04-25			ENSG00000140326			1713	protein-coding gene	gene with protein product		607465	"""congenital dyserythropoietic anemia, type I"""			8634422, 12434312	Standard	XM_005254177		Approved	CDA-I, CDAI	uc001zql.3	Q8IWY9		ENST00000356231.3:c.2037G>A	15.37:g.43022933C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NYD0|Q7Z7L5|Q969N3	Silent	SNP	NULL	p.L679	ENST00000356231.3	37	c.2037	CCDS32209.1	15																																																																																			CDAN1	-	NULL	ENSG00000140326		0.637	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDAN1	HGNC	protein_coding	OTTHUMT00000431103.1	9	0.00	0	C	XM_085300		43022933	43022933	-1	no_errors	ENST00000356231	ensembl	human	known	69_37n	silent	9	35.71	5	SNP	1.000	T
CDC37	11140	genome.wustl.edu	37	19	10505732	10505732	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:10505732G>A	ENST00000222005.2	-	5	744	c.691C>T	c.(691-693)Cgg>Tgg	p.R231W		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	231					protein targeting (GO:0006605)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)	p.R231R(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		AAGCAGGCCCGGGGGTCCACC	0.582																																						dbGAP											1	Substitution - coding silent(1)	lung(1)											61.0	62.0	61.0					19																	10505732		2203	4300	6503	-	-	-	SO:0001583	missense	0			U63131	CCDS12237.1	19p13.2	2013-01-17	2013-01-17		ENSG00000105401	ENSG00000105401			1735	protein-coding gene	gene with protein product	"""CDC37 cell division cycle 37 homolog"", ""Hsp90 co-chaperone Cdc37"", ""CDC37 (cell division cycle 37, S. cerevisiae, homolog)"""	605065	"""CDC37 (cell division cycle 37, S. cerevisiae, homolog)"", ""CDC37 cell division cycle 37 homolog (S. cerevisiae)"", ""cell division cycle 37 homolog (S. cerevisiae)"""			8703009, 8666233	Standard	NM_007065		Approved	P50CDC37	uc002mof.1	Q16543		ENST00000222005.2:c.691C>T	19.37:g.10505732G>A	ENSP00000222005:p.Arg231Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53YA2	Missense_Mutation	SNP	pfam_Cdc37_Hsp90-bd,pfam_Cdc37_N_dom,pfam_Cdc37_C	p.R231W	ENST00000222005.2	37	c.691	CCDS12237.1	19	.	.	.	.	.	.	.	.	.	.	G	18.07	3.541922	0.65198	.	.	ENSG00000105401	ENST00000222005	T	0.49432	0.78	4.08	3.02	0.34903	Cdc37, Hsp90 binding (1);	0.000000	0.85682	D	0.000000	T	0.71074	0.3297	M	0.91300	3.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.74612	-0.3607	10	0.87932	D	0	.	9.4528	0.38736	0.0:0.0:0.6162:0.3838	.	231;231	Q6FG59;Q16543	.;CDC37_HUMAN	W	231	ENSP00000222005:R231W	ENSP00000222005:R231W	R	-	1	2	CDC37	10366732	1.000000	0.71417	0.951000	0.38953	0.984000	0.73092	2.904000	0.48719	0.832000	0.34804	-0.310000	0.09108	CGG	CDC37	-	pfam_Cdc37_Hsp90-bd	ENSG00000105401		0.582	CDC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC37	HGNC	protein_coding	OTTHUMT00000451987.1	56	0.00	0	G	NM_007065		10505732	10505732	-1	no_errors	ENST00000222005	ensembl	human	known	69_37n	missense	44	20.00	11	SNP	1.000	A
CDC5L	988	genome.wustl.edu	37	6	44371709	44371709	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:44371709C>G	ENST00000371477.3	+	6	1002	c.703C>G	c.(703-705)Ctt>Gtt	p.L235V		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	235	Nuclear localization signal. {ECO:0000255}.				cell cycle (GO:0007049)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|WD40-repeat domain binding (GO:0071987)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTACCAAGCTCTTGACGCAGA	0.388																																						dbGAP											0													68.0	72.0	70.0					6																	44371709		2203	4300	6503	-	-	-	SO:0001583	missense	0			D85423	CCDS4912.1	6p21.1	2013-01-17	2013-01-17		ENSG00000096401	ENSG00000096401			1743	protein-coding gene	gene with protein product		602868	"""CDC5 (cell division cycle 5, S. pombe, homolog)-like"", ""CDC5 cell division cycle 5-like (S. pombe)"""			9598309, 9038199	Standard	NM_001253		Approved	PCDC5RP, hCDC5, CEF1, CDC5	uc003oxl.3	Q99459	OTTHUMG00000014767	ENST00000371477.3:c.703C>G	6.37:g.44371709C>G	ENSP00000360532:p.Leu235Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q76N46|Q99974	Missense_Mutation	SNP	pfam_DUF3351,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.L235V	ENST00000371477.3	37	c.703	CCDS4912.1	6	.	.	.	.	.	.	.	.	.	.	C	9.822	1.186001	0.21870	.	.	ENSG00000096401	ENST00000371477	T	0.44083	0.93	6.04	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.15003	0.0362	L	0.34521	1.04	0.51012	D	0.999907	B	0.33022	0.394	B	0.30401	0.115	T	0.06499	-1.0823	10	0.26408	T	0.33	-11.2483	9.2235	0.37390	0.0:0.7405:0.0:0.2594	.	235	Q99459	CDC5L_HUMAN	V	235	ENSP00000360532:L235V	ENSP00000360532:L235V	L	+	1	0	CDC5L	44479687	0.969000	0.33509	1.000000	0.80357	0.723000	0.41478	2.312000	0.43726	1.572000	0.49736	0.563000	0.77884	CTT	CDC5L	-	NULL	ENSG00000096401		0.388	CDC5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC5L	HGNC	protein_coding	OTTHUMT00000040743.1	63	0.00	0	C			44371709	44371709	+1	no_errors	ENST00000371477	ensembl	human	known	69_37n	missense	45	18.18	10	SNP	0.980	G
CDCA7	83879	genome.wustl.edu	37	2	174228557	174228557	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:174228557C>G	ENST00000347703.3	+	4	540	c.396C>G	c.(394-396)ctC>ctG	p.L132L	CDCA7_ENST00000392567.2_Silent_p.L132L|CDCA7_ENST00000306721.3_Silent_p.L211L|CDCA7_ENST00000410101.3_Silent_p.L167L|CDCA7_ENST00000410019.3_Silent_p.L90L	NM_145810.2	NP_665809.1	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7	132					apoptotic process (GO:0006915)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			TTGCAAAACTCATGTCTGAAT	0.403																																						dbGAP											0													184.0	188.0	187.0					2																	174228557		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BG354580	CCDS2252.1, CCDS2253.1	2q31.1	2008-02-05			ENSG00000144354	ENSG00000144354			14628	protein-coding gene	gene with protein product		609937				11598121, 12188893	Standard	NM_145810		Approved	FLJ14736, JPO1	uc002uic.1	Q9BWT1	OTTHUMG00000132296	ENST00000347703.3:c.396C>G	2.37:g.174228557C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DLP8|B4DV66|Q53EW5|Q580W9|Q658K4|Q658N4|Q8NBY9|Q96BV8|Q96SP5	Silent	SNP	pfam_Znf-4CXXC_R1	p.L211	ENST00000347703.3	37	c.633	CCDS2253.1	2																																																																																			CDCA7	-	NULL	ENSG00000144354		0.403	CDCA7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CDCA7	HGNC	protein_coding	OTTHUMT00000255400.1	214	0.00	0	C	NM_031942		174228557	174228557	+1	no_errors	ENST00000306721	ensembl	human	known	69_37n	silent	179	21.15	48	SNP	0.994	G
CDH12	1010	genome.wustl.edu	37	5	21817060	21817060	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:21817060C>G	ENST00000382254.1	-	9	2082	c.996G>C	c.(994-996)ttG>ttC	p.L332F	CDH12_ENST00000522262.1_Missense_Mutation_p.L292F|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.L332F	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	332	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						ATACCTTTTTCAATTTGATGA	0.299										HNSCC(59;0.17)																												dbGAP											0													129.0	129.0	129.0					5																	21817060		2203	4300	6503	-	-	-	SO:0001583	missense	0			L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.996G>C	5.37:g.21817060C>G	ENSP00000371689:p.Leu332Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.L332F	ENST00000382254.1	37	c.996	CCDS3890.1	5	.	.	.	.	.	.	.	.	.	.	C	15.91	2.973144	0.53614	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.55930	0.49;0.49;0.49	5.06	4.17	0.49024	Cadherin (5);Cadherin-like (1);	0.069506	0.52532	D	0.000080	T	0.72269	0.3439	M	0.85299	2.745	0.45005	D	0.998021	D;D	0.89917	0.996;1.0	D;D	0.75484	0.98;0.986	T	0.75590	-0.3265	10	0.87932	D	0	.	9.9281	0.41505	0.2735:0.5931:0.1334:0.0	.	292;332	B7Z2U6;P55289	.;CAD12_HUMAN	F	332;332;292	ENSP00000423577:L332F;ENSP00000371689:L332F;ENSP00000428786:L292F	ENSP00000371689:L332F	L	-	3	2	CDH12	21852817	0.999000	0.42202	1.000000	0.80357	0.982000	0.71751	0.650000	0.24858	1.198000	0.43158	0.650000	0.86243	TTG	CDH12	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	ENSG00000154162		0.299	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH12	HGNC	protein_coding	OTTHUMT00000207139.1	118	0.00	0	C	NM_004061		21817060	21817060	-1	no_errors	ENST00000382254	ensembl	human	known	69_37n	missense	94	18.97	22	SNP	1.000	G
CDH16	1014	genome.wustl.edu	37	16	66951570	66951570	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:66951570C>G	ENST00000299752.4	-	3	297	c.104G>C	c.(103-105)gGa>gCa	p.G35A	CDH16_ENST00000568632.1_Missense_Mutation_p.G35A|CDH16_ENST00000394055.3_Missense_Mutation_p.G35A|CDH16_ENST00000565796.1_Missense_Mutation_p.G35A|CDH16_ENST00000570262.1_Intron	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	35	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		AGGGAAATTTCCACCATAGTT	0.582																																						dbGAP											0													33.0	34.0	34.0					16																	66951570		2200	4300	6500	-	-	-	SO:0001583	missense	0			AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"""Cadherins / Major cadherins"""	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.104G>C	16.37:g.66951570C>G	ENSP00000299752:p.Gly35Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DPA8|H3BPD3|Q6UW93	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G35A	ENST00000299752.4	37	c.104	CCDS10823.1	16	.	.	.	.	.	.	.	.	.	.	C	21.9	4.217663	0.79352	.	.	ENSG00000166589	ENST00000394055;ENST00000299752;ENST00000544875	T;T	0.57752	0.46;0.38	4.95	4.95	0.65309	Cadherin (2);Cadherin-like (1);	0.138023	0.47455	D	0.000233	T	0.57858	0.2082	L	0.41415	1.275	0.58432	D	0.999992	P;D;P	0.89917	0.909;1.0;0.853	P;D;B	0.87578	0.643;0.998;0.44	T	0.52139	-0.8615	10	0.02654	T	1	-2.9929	13.6101	0.62074	0.0:1.0:0.0:0.0	.	35;35;35	O75309-2;B2R7S8;O75309	.;.;CAD16_HUMAN	A	35	ENSP00000377619:G35A;ENSP00000299752:G35A	ENSP00000299752:G35A	G	-	2	0	CDH16	65509071	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	5.216000	0.65246	2.600000	0.87896	0.650000	0.86243	GGA	CDH16	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000166589		0.582	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH16	HGNC	protein_coding	OTTHUMT00000268839.2	39	0.00	0	C	NM_004062		66951570	66951570	-1	no_errors	ENST00000299752	ensembl	human	known	69_37n	missense	40	23.08	12	SNP	1.000	G
CDH15	1013	genome.wustl.edu	37	16	89246631	89246631	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:89246631G>A	ENST00000289746.2	+	3	290	c.225G>A	c.(223-225)ctG>ctA	p.L75L	CDH15_ENST00000521087.1_Intron	NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	75	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		AGCAGCAGCTGGGCAGCGTCA	0.637																																						dbGAP											0													43.0	41.0	41.0					16																	89246631		2196	4299	6495	-	-	-	SO:0001819	synonymous_variant	0			D83542	CCDS10976.1	16q24.3	2010-01-26	2008-10-30		ENSG00000129910	ENSG00000129910		"""Cadherins / Major cadherins"""	1754	protein-coding gene	gene with protein product		114019	"""cadherin 15, M-cadherin (myotubule)"""	CDH3, CDH14		1427864	Standard	NM_004933		Approved		uc002fmt.3	P55291	OTTHUMG00000138045	ENST00000289746.2:c.225G>A	16.37:g.89246631G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L75	ENST00000289746.2	37	c.225	CCDS10976.1	16																																																																																			CDH15	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000129910		0.637	CDH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH15	HGNC	protein_coding	OTTHUMT00000269920.1	44	0.00	0	G	NM_004933		89246631	89246631	+1	no_errors	ENST00000289746	ensembl	human	known	69_37n	silent	40	16.67	8	SNP	0.104	A
CDH2	1000	genome.wustl.edu	37	18	25589823	25589823	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr18:25589823C>G	ENST00000269141.3	-	5	983	c.560G>C	c.(559-561)aGa>aCa	p.R187T	CDH2_ENST00000399380.3_Missense_Mutation_p.R156T	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	187	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GTTTTTATCTCTATCAGACCT	0.458																																						dbGAP											0													76.0	69.0	71.0					18																	25589823		2203	4300	6503	-	-	-	SO:0001583	missense	0			S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.560G>C	18.37:g.25589823C>G	ENSP00000269141:p.Arg187Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmocollin	p.R187T	ENST00000269141.3	37	c.560	CCDS11891.1	18	.	.	.	.	.	.	.	.	.	.	C	21.7	4.190694	0.78789	.	.	ENSG00000170558	ENST00000269141;ENST00000399380;ENST00000418492;ENST00000430882	T;T;T;T	0.60171	0.7;0.7;0.7;0.21	5.77	5.77	0.91146	Cadherin (4);Cadherin-like (1);	0.131649	0.64402	D	0.000004	T	0.65749	0.2721	L	0.33293	1	0.47374	D	0.999404	P;D	0.61697	0.926;0.99	P;P	0.58454	0.7;0.839	T	0.66436	-0.5924	10	0.66056	D	0.02	.	20.3559	0.98840	0.0:1.0:0.0:0.0	.	156;187	A8MWK3;P19022	.;CADH2_HUMAN	T	187;156;136;102	ENSP00000269141:R187T;ENSP00000382312:R156T;ENSP00000411360:R136T;ENSP00000412120:R102T	ENSP00000269141:R187T	R	-	2	0	CDH2	23843821	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.501000	0.60393	2.890000	0.99128	0.585000	0.79938	AGA	CDH2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000170558		0.458	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH2	HGNC	protein_coding	OTTHUMT00000133246.3	52	0.00	0	C	NM_001792		25589823	25589823	-1	no_errors	ENST00000269141	ensembl	human	known	69_37n	missense	18	40.00	12	SNP	1.000	G
CDH20	28316	genome.wustl.edu	37	18	59195263	59195263	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr18:59195263G>C	ENST00000262717.4	+	7	1479	c.1081G>C	c.(1081-1083)Gag>Cag	p.E361Q	CDH20_ENST00000538374.1_Missense_Mutation_p.E361Q|CDH20_ENST00000536675.2_Missense_Mutation_p.E361Q			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	361	Cadherin 3. {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(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				TCCTCACCTAGAGATGCGTTT	0.478																																						dbGAP											0													108.0	100.0	103.0					18																	59195263		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"""Cadherins / Major cadherins"""	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.1081G>C	18.37:g.59195263G>C	ENSP00000262717:p.Glu361Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q495S3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E361Q	ENST00000262717.4	37	c.1081	CCDS11977.1	18	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453817	0.63290	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	T;T;T	0.38240	1.15;1.15;1.15	5.88	4.99	0.66335	Cadherin (4);Cadherin-like (1);	0.202110	0.51477	N	0.000099	T	0.33177	0.0854	L	0.33339	1.005	0.50171	D	0.999856	B	0.14438	0.01	B	0.21546	0.035	T	0.09751	-1.0660	10	0.72032	D	0.01	.	17.0127	0.86411	0.0:0.1273:0.8727:0.0	.	361	Q9HBT6	CAD20_HUMAN	Q	361	ENSP00000444767:E361Q;ENSP00000442226:E361Q;ENSP00000262717:E361Q	ENSP00000262717:E361Q	E	+	1	0	CDH20	57346243	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	6.406000	0.73276	1.457000	0.47850	0.650000	0.86243	GAG	CDH20	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000101542		0.478	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH20	HGNC	protein_coding	OTTHUMT00000256141.2	68	0.00	0	G	NM_031891		59195263	59195263	+1	no_errors	ENST00000262717	ensembl	human	known	69_37n	missense	46	25.81	16	SNP	1.000	C
C10orf105	414152	genome.wustl.edu	37	10	73483820	73483820	+	Intron	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:73483820G>A	ENST00000398786.2	-	2	97				CDH23_ENST00000224721.6_Missense_Mutation_p.D1135N	NM_001168390.1	NP_001161862.1	Q8TEF2	CJ105_HUMAN	chromosome 10 open reading frame 105							integral component of membrane (GO:0016021)											CACGGACGCAGATGAGGGCGA	0.582																																						dbGAP											0													63.0	72.0	69.0					10																	73483820		2050	4166	6216	-	-	-	SO:0001627	intron_variant	0			AK074172	CCDS44430.1	10q22.1	2012-06-01			ENSG00000214688	ENSG00000214688			20304	protein-coding gene	gene with protein product							Standard	NM_001164375		Approved	FLJ00245	uc001jsa.2	Q8TEF2	OTTHUMG00000018427	ENST00000398786.2:c.5-7721C>T	10.37:g.73483820G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.D1133N	ENST00000398786.2	37	c.3397	CCDS44430.1	10	.	.	.	.	.	.	.	.	.	.	g	17.08	3.297365	0.60086	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721	.	.	.	4.89	4.89	0.63831	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.90553	0.7039	H	0.98918	4.37	0.80722	D	1	D;D	0.69078	0.997;0.966	D;P	0.67900	0.954;0.84	D	0.94752	0.7928	9	0.87932	D	0	.	18.0692	0.89400	0.0:0.0:1.0:0.0	.	1130;1130	Q6P152;Q9H251	.;CAD23_HUMAN	N	1135;1130;1133	.	ENSP00000224721:D1135N	D	+	1	0	CDH23	73153826	1.000000	0.71417	0.097000	0.21041	0.011000	0.07611	8.267000	0.89874	2.252000	0.74401	0.550000	0.68814	GAT	CDH23	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000107736		0.582	C10orf105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH23	HGNC	protein_coding	OTTHUMT00000048551.2	75	0.00	0	G	NM_001164375		73483820	73483820	+1	no_errors	ENST00000224721	ensembl	human	known	69_37n	missense	82	25.45	28	SNP	0.992	A
CDH24	64403	genome.wustl.edu	37	14	23523780	23523780	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:23523780G>C	ENST00000267383.5	-	4	811	c.719C>G	c.(718-720)tCa>tGa	p.S240*	CDH24_ENST00000487137.2_Nonsense_Mutation_p.S240*|CDH24_ENST00000554034.1_Nonsense_Mutation_p.S240*|CDH24_ENST00000397359.3_Nonsense_Mutation_p.S240*			Q86UP0	CAD24_HUMAN	cadherin 24, type 2	240	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		AGTGCTGCCTGACAGCCCCCC	0.607											OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													79.0	70.0	73.0					14																	23523780		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AL137477	CCDS9585.1, CCDS9586.1	14q11.2	2010-08-20	2009-11-20		ENSG00000139880	ENSG00000139880		"""Cadherins / Major cadherins"""	14265	protein-coding gene	gene with protein product			"""cadherin-like 24"""			12734196	Standard	NM_022478		Approved	CDH11L	uc001wil.3	Q86UP0	OTTHUMG00000028715	ENST00000267383.5:c.719C>G	14.37:g.23523780G>C	ENSP00000267383:p.Ser240*	Somatic	764	WXS	Illumina GAIIx	Phase_IV	D3DS44|Q86UP1|Q9NT84	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S240*	ENST00000267383.5	37	c.719	CCDS9585.1	14	.	.	.	.	.	.	.	.	.	.	G	37	6.092820	0.97276	.	.	ENSG00000139880	ENST00000397359;ENST00000487137;ENST00000554034;ENST00000267383	.	.	.	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.2132	0.86936	0.0:0.0:1.0:0.0	.	.	.	.	X	240	.	ENSP00000267383:S240X	S	-	2	0	CDH24	22593620	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.674000	0.83992	2.606000	0.88127	0.561000	0.74099	TCA	CDH24	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000139880		0.607	CDH24-006	KNOWN	basic|CCDS	protein_coding	CDH24	HGNC	protein_coding	OTTHUMT00000257241.2	60	0.00	0	G	NM_022478		23523780	23523780	-1	no_errors	ENST00000267383	ensembl	human	known	69_37n	nonsense	34	34.62	18	SNP	1.000	C
CDH26	60437	genome.wustl.edu	37	20	58574648	58574648	+	Nonsense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:58574648C>G	ENST00000244047.5	+	14	2338	c.2027C>G	c.(2026-2028)tCa>tGa	p.S676*	CDH26_ENST00000497614.1_3'UTR|CDH26_ENST00000244049.3_Nonsense_Mutation_p.S9*|CDH26_ENST00000348616.4_Nonsense_Mutation_p.S676*|CDH26_ENST00000350849.6_Nonsense_Mutation_p.S9*			Q8IXH8	CAD26_HUMAN	cadherin 26	676					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			CAGACATGGTCAGATGTTGAA	0.458																																						dbGAP											0													77.0	74.0	75.0					20																	58574648		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"""Cadherins / Major cadherins"""	15902	protein-coding gene	gene with protein product			"""cadherin-like 26"""				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.2027C>G	20.37:g.58574648C>G	ENSP00000244047:p.Ser676*	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Nonsense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S676*	ENST00000244047.5	37	c.2027		20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.05|17.05	3.291038|3.291038	0.59976|0.59976	.|.	.|.	ENSG00000124215|ENSG00000124215	ENST00000370991|ENST00000244047;ENST00000348616;ENST00000244049;ENST00000350849;ENST00000456106	.|.	.|.	.|.	3.08|3.08	1.14|1.14	0.20703|0.20703	.|.	.|.	.|.	.|.	.|.	T|.	0.39332|.	0.1074|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.45483|.	-0.9258|.	3|.	.|0.38643	.|T	.|0.18	.|.	4.9818|4.9818	0.14170|0.14170	0.0:0.7179:0.0:0.282|0.0:0.7179:0.0:0.282	.|.	.|.	.|.	.|.	E|X	268|676;676;9;9;9	.|.	.|ENSP00000244047:S676X	Q|S	+|+	1|2	0|0	CDH26|CDH26	58008043|58008043	0.001000|0.001000	0.12720|0.12720	0.001000|0.001000	0.08648|0.08648	0.036000|0.036000	0.12997|0.12997	0.664000|0.664000	0.25068|0.25068	0.357000|0.357000	0.24183|0.24183	0.655000|0.655000	0.94253|0.94253	CAG|TCA	CDH26	-	NULL	ENSG00000124215		0.458	CDH26-201	KNOWN	basic	protein_coding	CDH26	HGNC	protein_coding		65	0.00	0	C	NM_177980		58574648	58574648	+1	no_errors	ENST00000244047	ensembl	human	known	69_37n	nonsense	81	13.83	13	SNP	0.001	G
CDH9	1007	genome.wustl.edu	37	5	26885945	26885945	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:26885945delC	ENST00000231021.4	-	11	1832	c.1660delG	c.(1660-1662)gatfs	p.D554fs		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	554	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CTGTAGCCATCTTTCCGAGTC	0.358																																					Melanoma(8;187 585 15745 40864 52829)	dbGAP											0													63.0	63.0	63.0					5																	26885945		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1660delG	5.37:g.26885945delC	ENSP00000231021:p.Asp554fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3B7I5	Frame_Shift_Del	DEL	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D554fs	ENST00000231021.4	37	c.1660	CCDS3893.1	5																																																																																			CDH9	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000113100		0.358	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH9	HGNC	protein_coding	OTTHUMT00000207352.1	22	0.00	0	C	NM_016279		26885945	26885945	-1	no_errors	ENST00000231021	ensembl	human	known	69_37n	frame_shift_del	19	28.57	8	DEL	1.000	-
CDH9	1007	genome.wustl.edu	37	5	26902826	26902826	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:26902826C>G	ENST00000231021.4	-	7	1184	c.1012G>C	c.(1012-1014)Gaa>Caa	p.E338Q		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	338	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ATTTGATTTTCAAAATCTAAA	0.338																																					Melanoma(8;187 585 15745 40864 52829)	dbGAP											0													43.0	44.0	43.0					5																	26902826		2203	4298	6501	-	-	-	SO:0001583	missense	0			AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1012G>C	5.37:g.26902826C>G	ENSP00000231021:p.Glu338Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3B7I5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E338Q	ENST00000231021.4	37	c.1012	CCDS3893.1	5	.	.	.	.	.	.	.	.	.	.	C	25.8	4.679777	0.88542	.	.	ENSG00000113100	ENST00000231021	T	0.72942	-0.7	5.62	5.62	0.85841	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.88746	0.6520	H	0.99026	4.405	0.58432	D	0.999995	P	0.44946	0.846	P	0.52217	0.693	D	0.92724	0.6194	9	.	.	.	.	18.2244	0.89913	0.0:1.0:0.0:0.0	.	338	Q9ULB4	CADH9_HUMAN	Q	338	ENSP00000231021:E338Q	.	E	-	1	0	CDH9	26938583	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.461000	0.80834	2.648000	0.89879	0.650000	0.86243	GAA	CDH9	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000113100		0.338	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH9	HGNC	protein_coding	OTTHUMT00000207352.1	72	0.00	0	C	NM_016279		26902826	26902826	-1	no_errors	ENST00000231021	ensembl	human	known	69_37n	missense	54	18.18	12	SNP	1.000	G
CDHR1	92211	genome.wustl.edu	37	10	85961562	85961562	+	Splice_Site	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:85961562G>A	ENST00000372117.3	+	7	628		c.e7-1		CDHR1_ENST00000440770.2_5'Flank|CDHR1_ENST00000332904.3_Splice_Site	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1						cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						AATTCTTATAGAACCTGCACT	0.612																																						dbGAP											0													38.0	41.0	40.0					10																	85961562		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	14550	protein-coding gene	gene with protein product		609502	"""protocadherin 21"""	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.526-1G>A	10.37:g.85961562G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q69YZ8|Q8IXY5	Splice_Site	SNP	-	e7-1	ENST00000372117.3	37	c.526-1	CCDS7372.1	10	.	.	.	.	.	.	.	.	.	.	G	9.373	1.070929	0.20147	.	.	ENSG00000148600	ENST00000332904;ENST00000372117	.	.	.	5.11	5.11	0.69529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.38	0.66905	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDHR1	85951542	1.000000	0.71417	0.782000	0.31804	0.132000	0.20833	4.508000	0.60441	2.531000	0.85337	0.655000	0.94253	.	CDHR1	-	-	ENSG00000148600		0.612	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDHR1	HGNC	protein_coding	OTTHUMT00000049111.1	57	0.00	0	G	NM_033100	Intron	85961562	85961562	+1	no_errors	ENST00000372117	ensembl	human	known	69_37n	splice_site	33	26.67	12	SNP	0.965	A
CDK13	8621	genome.wustl.edu	37	7	40027724	40027724	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:40027724C>G	ENST00000181839.4	+	2	2343	c.1738C>G	c.(1738-1740)Ctt>Gtt	p.L580V	CDK13_ENST00000484589.1_3'UTR|CDK13_ENST00000340829.5_Missense_Mutation_p.L580V	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	580					alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						ATCAGTATCTCTTAAAGAGAA	0.413																																						dbGAP											0													96.0	81.0	86.0					7																	40027724		2203	4300	6503	-	-	-	SO:0001583	missense	0			M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"""Cyclin-dependent kinases"""	1733	protein-coding gene	gene with protein product	"""cholinesterase-related cell division controller"""	603309	"""cell division cycle 2-like 5 (cholinesterase-related cell division controller)"""	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.1738C>G	7.37:g.40027724C>G	ENSP00000181839:p.Leu580Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	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.L580V	ENST00000181839.4	37	c.1738	CCDS5461.1	7	.	.	.	.	.	.	.	.	.	.	C	4.437	0.080879	0.08533	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.68479	-0.32;-0.33	6.02	1.76	0.24704	.	.	.	.	.	T	0.41119	0.1145	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.21930	-1.0231	8	.	.	.	-1.0111	7.2966	0.26397	0.1088:0.3033:0.5154:0.0726	.	580;580	Q14004-2;Q14004	.;CDK13_HUMAN	V	580	ENSP00000181839:L580V;ENSP00000340557:L580V	.	L	+	1	0	CDK13	39994249	0.997000	0.39634	0.999000	0.59377	0.998000	0.95712	1.272000	0.33109	0.344000	0.23847	0.650000	0.86243	CTT	CDK13	-	NULL	ENSG00000065883		0.413	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK13	HGNC	protein_coding	OTTHUMT00000250726.2	64	0.00	0	C	NM_003718		40027724	40027724	+1	no_errors	ENST00000181839	ensembl	human	known	69_37n	missense	34	10.53	4	SNP	0.026	G
CDK13	8621	genome.wustl.edu	37	7	40085603	40085603	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:40085603C>T	ENST00000181839.4	+	6	3127	c.2522C>T	c.(2521-2523)tCc>tTc	p.S841F	CDK13_ENST00000484589.1_3'UTR|CDK13_ENST00000340829.5_Missense_Mutation_p.S841F	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	841	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						ATTAAATGTTCCAATATCCTT	0.308																																						dbGAP											0													95.0	103.0	100.0					7																	40085603		2203	4300	6503	-	-	-	SO:0001583	missense	0			M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"""Cyclin-dependent kinases"""	1733	protein-coding gene	gene with protein product	"""cholinesterase-related cell division controller"""	603309	"""cell division cycle 2-like 5 (cholinesterase-related cell division controller)"""	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.2522C>T	7.37:g.40085603C>T	ENSP00000181839:p.Ser841Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	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.S841F	ENST00000181839.4	37	c.2522	CCDS5461.1	7	.	.	.	.	.	.	.	.	.	.	C	17.76	3.469418	0.63625	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.49139	0.79;0.79	4.62	4.62	0.57501	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.69815	0.3153	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.998;0.997;0.999	T	0.72510	-0.4271	8	.	.	.	-8.5519	17.6388	0.88129	0.0:1.0:0.0:0.0	.	227;841;841	Q9BVE2;Q14004-2;Q14004	.;.;CDK13_HUMAN	F	841	ENSP00000181839:S841F;ENSP00000340557:S841F	.	S	+	2	0	CDK13	40052128	1.000000	0.71417	1.000000	0.80357	0.446000	0.32137	7.651000	0.83577	2.383000	0.81215	0.650000	0.86243	TCC	CDK13	-	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	ENSG00000065883		0.308	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK13	HGNC	protein_coding	OTTHUMT00000250726.2	72	0.00	0	C	NM_003718		40085603	40085603	+1	no_errors	ENST00000181839	ensembl	human	known	69_37n	missense	62	29.55	26	SNP	1.000	T
CDHR3	222256	genome.wustl.edu	37	7	105635275	105635275	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:105635275G>C	ENST00000317716.9	+	5	672	c.592G>C	c.(592-594)Gaa>Caa	p.E198Q	CDHR3_ENST00000470188.1_Intron|CDHR3_ENST00000343407.5_5'UTR|CDHR3_ENST00000542731.1_Missense_Mutation_p.E198Q|CDHR3_ENST00000541203.1_Intron|CDHR3_ENST00000478080.1_Missense_Mutation_p.E110Q	NM_152750.4	NP_689963.2	Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	198	Cadherin 2. {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(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						ATTGGACTTTGAAGCAGGACA	0.423																																						dbGAP											0													77.0	67.0	70.0					7																	105635275		1905	4131	6036	-	-	-	SO:0001583	missense	0			AK126338	CCDS47684.1, CCDS75651.1	7q22.2	2011-07-01			ENSG00000128536	ENSG00000128536		"""Cadherins / Cadherin-related"""	26308	protein-coding gene	gene with protein product		615610					Standard	NM_152750		Approved	FLJ44366, FLJ23834, CDH28	uc003vdl.4	Q6ZTQ4	OTTHUMG00000157520	ENST00000317716.9:c.592G>C	7.37:g.105635275G>C	ENSP00000325954:p.Glu198Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TCI7	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.E198Q	ENST00000317716.9	37	c.592	CCDS47684.1	7	.	.	.	.	.	.	.	.	.	.	G	20.3	3.963263	0.74016	.	.	ENSG00000128536	ENST00000542731;ENST00000317716;ENST00000478080	T;T;T	0.72942	-0.7;-0.7;-0.7	5.11	5.11	0.69529	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.87212	0.6121	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.89767	0.3951	10	0.87932	D	0	-30.276	16.071	0.80936	0.0:0.0:1.0:0.0	.	185;198	B3KYA0;Q6ZTQ4	.;CDHR3_HUMAN	Q	198;198;110	ENSP00000439766:E198Q;ENSP00000325954:E198Q;ENSP00000417771:E110Q	ENSP00000325954:E198Q	E	+	1	0	CDHR3	105422511	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	4.840000	0.62817	2.670000	0.90874	0.655000	0.94253	GAA	CDHR3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000128536		0.423	CDHR3-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDHR3	HGNC	protein_coding	OTTHUMT00000349025.2	104	0.00	0	G	NM_152750		105635275	105635275	+1	no_errors	ENST00000317716	ensembl	human	known	69_37n	missense	101	24.06	32	SNP	1.000	C
CDK17	5128	genome.wustl.edu	37	12	96717855	96717855	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:96717855G>C	ENST00000261211.3	-	3	757	c.154C>G	c.(154-156)Cac>Gac	p.H52D	CDK17_ENST00000542666.1_5'UTR|CDK17_ENST00000543119.2_Missense_Mutation_p.H52D	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN	cyclin-dependent kinase 17	52					protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						TGCATACTGTGAGACGTTGGA	0.483																																						dbGAP											0													71.0	67.0	69.0					12																	96717855		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9061.1, CCDS53819.1	12q23.1	2011-11-08	2009-12-16	2009-12-16		ENSG00000059758		"""Cyclin-dependent kinases"""	8750	protein-coding gene	gene with protein product		603440	"""PCTAIRE protein kinase 2"""	PCTK2		9370357, 19884882	Standard	NM_001170464		Approved	PCTAIRE2	uc009ztk.3	Q00537		ENST00000261211.3:c.154C>G	12.37:g.96717855G>C	ENSP00000261211:p.His52Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1U6|B2RCQ2|Q8NEB8	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.H52D	ENST00000261211.3	37	c.154	CCDS9061.1	12	.	.	.	.	.	.	.	.	.	.	G	17.31	3.356371	0.61293	.	.	ENSG00000059758	ENST00000261211;ENST00000543119;ENST00000551816;ENST00000552496;ENST00000548734;ENST00000552262	T;T;T;T;T	0.69435	-0.39;-0.4;0.92;0.91;0.77	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.62708	0.2450	L	0.44542	1.39	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.54669	-0.8259	10	0.35671	T	0.21	-11.7526	20.2851	0.98532	0.0:0.0:1.0:0.0	.	52;52	A8K1U6;Q00537	.;CDK17_HUMAN	D	52;52;52;52;72;52	ENSP00000261211:H52D;ENSP00000444459:H52D;ENSP00000450058:H52D;ENSP00000447282:H52D;ENSP00000447441:H72D	ENSP00000261211:H52D	H	-	1	0	CDK17	95241986	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.508000	0.98000	2.873000	0.98535	0.644000	0.83932	CAC	CDK17	-	NULL	ENSG00000059758		0.483	CDK17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK17	HGNC	protein_coding	OTTHUMT00000408751.1	87	0.00	0	G	NM_002595		96717855	96717855	-1	no_errors	ENST00000261211	ensembl	human	known	69_37n	missense	42	16.00	8	SNP	1.000	C
CDK3	1018	genome.wustl.edu	37	17	73998136	73998136	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:73998136C>G	ENST00000425876.2	+	3	316	c.228C>G	c.(226-228)ctC>ctG	p.L76L	TEN1-CDK3_ENST00000567351.1_RNA|CDK3_ENST00000448471.1_Silent_p.L76L			Q00526	CDK3_HUMAN	cyclin-dependent kinase 3	76	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|G0 to G1 transition (GO:0045023)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			central_nervous_system(1)	1						AGAGGAAGCTCTATCTGGTGT	0.567																																						dbGAP											0													125.0	105.0	112.0					17																	73998136		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X66357	CCDS11736.1	17q25.1	2012-09-20			ENSG00000250506	ENSG00000250506		"""Cyclin-dependent kinases"""	1772	protein-coding gene	gene with protein product		123828				1639063	Standard	NM_001258		Approved		uc010dgt.3	Q00526	OTTHUMG00000154861	ENST00000425876.2:c.228C>G	17.37:g.73998136C>G		Somatic		WXS	Illumina GAIIx	Phase_IV		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.L76	ENST00000425876.2	37	c.228	CCDS11736.1	17																																																																																			CDK3	-	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	ENSG00000250506		0.567	CDK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK3	HGNC	protein_coding	OTTHUMT00000337389.2	37	0.00	0	C	NM_001258		73998136	73998136	+1	no_errors	ENST00000425876	ensembl	human	known	69_37n	silent	67	17.28	14	SNP	0.817	G
CDK3	1018	genome.wustl.edu	37	17	73998483	73998483	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:73998483G>A	ENST00000425876.2	+	4	558	c.470G>A	c.(469-471)cGc>cAc	p.R157H	TEN1-CDK3_ENST00000567351.1_RNA|CDK3_ENST00000448471.1_Missense_Mutation_p.R157H			Q00526	CDK3_HUMAN	cyclin-dependent kinase 3	157	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|G0 to G1 transition (GO:0045023)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			central_nervous_system(1)	1						GTGCCCCTGCGCACCTACACC	0.582																																						dbGAP											0													44.0	37.0	39.0					17																	73998483		2203	4300	6503	-	-	-	SO:0001583	missense	0			X66357	CCDS11736.1	17q25.1	2012-09-20			ENSG00000250506	ENSG00000250506		"""Cyclin-dependent kinases"""	1772	protein-coding gene	gene with protein product		123828				1639063	Standard	NM_001258		Approved		uc010dgt.3	Q00526	OTTHUMG00000154861	ENST00000425876.2:c.470G>A	17.37:g.73998483G>A	ENSP00000410561:p.Arg157His	Somatic		WXS	Illumina GAIIx	Phase_IV		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.R157H	ENST00000425876.2	37	c.470	CCDS11736.1	17	.	.	.	.	.	.	.	.	.	.	G	21.0	4.085723	0.76642	.	.	ENSG00000250506	ENST00000448471;ENST00000425876	T;T	0.65916	-0.18;-0.18	4.51	2.47	0.30058	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000033	T	0.61022	0.2314	L	0.35723	1.085	0.47183	D	0.999349	D	0.67145	0.996	P	0.54664	0.758	T	0.61903	-0.6967	10	0.87932	D	0	-25.1023	9.8442	0.41017	0.1691:0.0:0.8309:0.0	.	157	Q00526	CDK3_HUMAN	H	157	ENSP00000400088:R157H;ENSP00000410561:R157H	ENSP00000410561:R157H	R	+	2	0	CDK3	71510078	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.753000	0.85153	0.510000	0.28216	0.555000	0.69702	CGC	CDK3	-	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	ENSG00000250506		0.582	CDK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK3	HGNC	protein_coding	OTTHUMT00000337389.2	38	0.00	0	G	NM_001258		73998483	73998483	+1	no_errors	ENST00000425876	ensembl	human	known	69_37n	missense	44	15.38	8	SNP	1.000	A
CDK5RAP2	55755	genome.wustl.edu	37	9	123232427	123232427	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:123232427G>A	ENST00000349780.4	-	17	2109	c.1930C>T	c.(1930-1932)Caa>Taa	p.Q644*	CDK5RAP2_ENST00000359309.3_Nonsense_Mutation_p.Q644*|CDK5RAP2_ENST00000360822.3_Nonsense_Mutation_p.Q644*|CDK5RAP2_ENST00000360190.4_Nonsense_Mutation_p.Q644*	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	644					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TGTTCCACTTGAAACCGATTG	0.289																																						dbGAP											0													36.0	38.0	37.0					9																	123232427		2198	4299	6497	-	-	-	SO:0001587	stop_gained	0			BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.1930C>T	9.37:g.123232427G>A	ENSP00000343818:p.Gln644*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Nonsense_Mutation	SNP	pfam_Spindle_assoc	p.Q644*	ENST00000349780.4	37	c.1930	CCDS6823.1	9	.	.	.	.	.	.	.	.	.	.	G	28.5	4.923020	0.92319	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000416449;ENST00000345313	.	.	.	5.57	4.65	0.58169	.	0.220629	0.32120	N	0.006541	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.1884	0.54254	0.0:0.1719:0.8281:0.0	.	.	.	.	X	644;644;644;644;70;645	.	ENSP00000341695:Q645X	Q	-	1	0	CDK5RAP2	122272248	1.000000	0.71417	0.862000	0.33874	0.995000	0.86356	3.746000	0.55127	1.309000	0.44985	0.655000	0.94253	CAA	CDK5RAP2	-	NULL	ENSG00000136861		0.289	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK5RAP2	HGNC	protein_coding	OTTHUMT00000055535.1	99	0.00	0	G	NM_018249		123232427	123232427	-1	no_errors	ENST00000349780	ensembl	human	known	69_37n	nonsense	57	20.83	15	SNP	0.933	A
CDKL5	6792	genome.wustl.edu	37	X	18671596	18671596	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:18671596C>T	ENST00000379989.3	+	22	3310	c.3025C>T	c.(3025-3027)Cac>Tac	p.H1009Y	CDKL5_ENST00000379996.3_Missense_Mutation_p.H1009Y|RS1_ENST00000476595.1_5'Flank|RS1_ENST00000379984.3_Intron	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	1009					neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					AGCCCTGATTCACAGGGCCCA	0.582																																						dbGAP											0													75.0	55.0	62.0					X																	18671596		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"""Cyclin-dependent kinases"""	11411	protein-coding gene	gene with protein product		300203	"""serine/threonine kinase 9"""	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.3025C>T	X.37:g.18671596C>T	ENSP00000369325:p.His1009Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	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.H1009Y	ENST00000379989.3	37	c.3025	CCDS14186.1	X	.	.	.	.	.	.	.	.	.	.	C	10.73	1.433693	0.25813	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.70045	-0.45;-0.45	4.0	2.16	0.27623	.	1.306580	0.05644	N	0.583990	T	0.45637	0.1352	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.39354	-0.9618	10	0.87932	D	0	5.6157	3.945	0.09344	0.2424:0.6297:0.0:0.1279	.	1009	O76039	CDKL5_HUMAN	Y	1009	ENSP00000369332:H1009Y;ENSP00000369325:H1009Y	ENSP00000369325:H1009Y	H	+	1	0	CDKL5	18581517	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.175000	0.16762	0.430000	0.26230	0.600000	0.82982	CAC	CDKL5	-	NULL	ENSG00000008086		0.582	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDKL5	HGNC	protein_coding	OTTHUMT00000055945.2	53	0.00	0	C	NM_003159		18671596	18671596	+1	no_errors	ENST00000379989	ensembl	human	known	69_37n	missense	60	18.92	14	SNP	0.000	T
CDON	50937	genome.wustl.edu	37	11	125848245	125848245	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:125848245C>G	ENST00000392693.3	-	18	3437	c.3310G>C	c.(3310-3312)Gac>Cac	p.D1104H	CDON_ENST00000263577.7_Missense_Mutation_p.D1104H|CDON_ENST00000531738.1_Missense_Mutation_p.D481H	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	1104					anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		TCCAGAGGGTCAATCTGAGGC	0.448																																						dbGAP											0													91.0	71.0	78.0					11																	125848245		2201	4299	6500	-	-	-	SO:0001583	missense	0			AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17104	protein-coding gene	gene with protein product	"""cell adhesion molecule-related/down-regulated by oncogenes"""	608707	"""Cdon homolog (mouse)"""			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.3310G>C	11.37:g.125848245C>G	ENSP00000376458:p.Asp1104His	Somatic		WXS	Illumina GAIIx	Phase_IV	O14631	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.D1104H	ENST00000392693.3	37	c.3310	CCDS58192.1	11	.	.	.	.	.	.	.	.	.	.	C	32	5.163178	0.94727	.	.	ENSG00000064309	ENST00000392693;ENST00000531738;ENST00000263577	T;T;T	0.72942	-0.69;0.0;-0.7	5.82	5.82	0.92795	.	0.000000	0.52532	D	0.000069	D	0.83252	0.5214	M	0.65975	2.015	0.58432	D	0.999999	D;D;D	0.71674	0.997;0.998;0.989	P;D;P	0.65773	0.868;0.938;0.815	D	0.83942	0.0312	10	0.87932	D	0	-19.2908	20.1096	0.97908	0.0:1.0:0.0:0.0	.	1104;1104;481	Q4KMG0;Q4KMG0-2;E9PN78	CDON_HUMAN;.;.	H	1104;481;1104	ENSP00000376458:D1104H;ENSP00000432901:D481H;ENSP00000263577:D1104H	ENSP00000263577:D1104H	D	-	1	0	CDON	125353455	1.000000	0.71417	0.798000	0.32154	0.955000	0.61496	7.433000	0.80362	2.761000	0.94854	0.446000	0.29264	GAC	CDON	-	NULL	ENSG00000064309		0.448	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDON	HGNC	protein_coding	OTTHUMT00000386749.2	73	0.00	0	C	NM_016952		125848245	125848245	-1	no_errors	ENST00000392693	ensembl	human	known	69_37n	missense	61	24.69	20	SNP	1.000	G
CEACAM3	1084	genome.wustl.edu	37	19	42314883	42314883	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:42314883C>A	ENST00000357396.3	+	6	882	c.641C>A	c.(640-642)tCc>tAc	p.S214Y	CEACAM3_ENST00000221999.4_Silent_p.L196L|CEACAM3_ENST00000344550.4_Silent_p.L196L	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 3	214						integral component of membrane (GO:0016021)				endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						TCCCCTCTCTCCACTGCCCAG	0.597																																						dbGAP											0													94.0	82.0	86.0					19																	42314883		2203	4300	6503	-	-	-	SO:0001583	missense	0			E03349	CCDS12586.2, CCDS62685.1	19q13.2	2013-01-11			ENSG00000170956	ENSG00000170956		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1815	protein-coding gene	gene with protein product		609142		CGM1			Standard	NM_001815		Approved	CD66d	uc002orn.2	P40198	OTTHUMG00000150142	ENST00000357396.3:c.641C>A	19.37:g.42314883C>A	ENSP00000349971:p.Ser214Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	G5E978|Q3KPH9	Missense_Mutation	SNP	pfam_Ig_V-set	p.S214Y	ENST00000357396.3	37	c.641	CCDS12586.2	19	.	.	.	.	.	.	.	.	.	.	C	10.91	1.485005	0.26598	.	.	ENSG00000170956	ENST00000357396	T	0.01221	5.15	2.13	-1.64	0.08318	.	.	.	.	.	T	0.01320	0.0043	N	0.22421	0.69	0.09310	N	1	P	0.44344	0.833	P	0.46026	0.501	T	0.45659	-0.9246	9	0.49607	T	0.09	.	2.0263	0.03519	0.2752:0.3625:0.0:0.3623	.	214	P40198	CEAM3_HUMAN	Y	214	ENSP00000349971:S214Y	ENSP00000349971:S214Y	S	+	2	0	CEACAM3	47006723	0.002000	0.14202	0.000000	0.03702	0.009000	0.06853	0.411000	0.21115	-0.324000	0.08589	0.511000	0.50034	TCC	CEACAM3	-	NULL	ENSG00000170956		0.597	CEACAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEACAM3	HGNC	protein_coding	OTTHUMT00000316509.2	88	0.00	0	C	NM_001815		42314883	42314883	+1	no_errors	ENST00000357396	ensembl	human	known	69_37n	missense	69	20.69	18	SNP	0.000	A
CEACAM1	634	genome.wustl.edu	37	19	43023314	43023314	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:43023314C>T	ENST00000161559.6	-	5	1166	c.1032G>A	c.(1030-1032)gtG>gtA	p.V344V	CEACAM1_ENST00000403444.3_Silent_p.V344V|LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000351134.3_Intron|CEACAM1_ENST00000403461.1_Intron|CEACAM1_ENST00000358394.3_Intron|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000457234.2_RNA|CEACAM1_ENST00000308072.4_Intron|CEACAM1_ENST00000352591.5_Intron|CEACAM1_ENST00000599389.1_Intron	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	344	Ig-like C2-type 3.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|homophilic cell adhesion (GO:0007156)|integrin-mediated signaling pathway (GO:0007229)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	AGGTCAGGTTCACAGAGTCCT	0.502																																						dbGAP											0													209.0	184.0	193.0					19																	43023314		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M72238	CCDS12609.1, CCDS46089.1, CCDS54272.1, CCDS54273.1, CCDS54274.1	19q13.2	2014-05-16			ENSG00000079385	ENSG00000079385		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1814	protein-coding gene	gene with protein product		109770		BGP		2457922, 2025273	Standard	NM_001712		Approved	BGP1, CD66a	uc002otv.3	P13688	OTTHUMG00000151078	ENST00000161559.6:c.1032G>A	19.37:g.43023314C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NE38|A8MY49|O60430|Q069I7|Q13854|Q13857|Q13858|Q13859|Q13860|Q15600|Q15601|Q16170|Q5UB49|Q7KYP5|Q96CA7|Q9UQV9	Silent	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.V344	ENST00000161559.6	37	c.1032	CCDS12609.1	19																																																																																			CEACAM1	-	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000079385		0.502	CEACAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEACAM1	HGNC	protein_coding	OTTHUMT00000321190.2	164	0.00	0	C	NM_001712		43023314	43023314	-1	no_errors	ENST00000161559	ensembl	human	known	69_37n	silent	167	19.71	41	SNP	0.009	T
CELA2A	63036	genome.wustl.edu	37	1	15783251	15783251	+	Start_Codon_SNP	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:15783251G>C	ENST00000359621.4	+	1	28	c.3G>C	c.(1-3)atG>atC	p.M1I	CELA2A_ENST00000497590.1_3'UTR	NM_033440.2	NP_254275.1	P08217	CEL2A_HUMAN	chymotrypsin-like elastase family, member 2A	1						extracellular region (GO:0005576)|keratohyalin granule (GO:0036457)	serine hydrolase activity (GO:0017171)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						GACACACCATGATAAGGACGC	0.537																																						dbGAP											0													127.0	108.0	115.0					1																	15783251		2203	4300	6503	-	-	-	SO:0001582	initiator_codon_variant	0				CCDS157.1	1p36.21	2009-07-09			ENSG00000142615	ENSG00000142615	3.4.21.71		24609	protein-coding gene	gene with protein product	"""elastase 2A"""	609443				3646943, 2834346	Standard	NM_033440		Approved	ELA2A	uc001awk.3	P08217	OTTHUMG00000002258	ENST00000359621.4:c.3G>C	1.37:g.15783251G>C	ENSP00000352639:p.Met1Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5I4|Q14243	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.M1I	ENST00000359621.4	37	c.3	CCDS157.1	1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.811412	0.50527	.	.	ENSG00000142615	ENST00000375924;ENST00000359621	D	0.87256	-2.23	4.13	4.13	0.48395	.	0.105878	0.38897	U	0.001536	D	0.92665	0.7669	.	.	.	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	D	0.93268	0.6649	9	0.87932	D	0	.	12.1428	0.54007	0.0:0.0:1.0:0.0	.	1	P08217	CEL2A_HUMAN	I	1	ENSP00000352639:M1I	ENSP00000352639:M1I	M	+	3	0	CELA2A	15655838	0.998000	0.40836	0.995000	0.50966	0.201000	0.24016	4.042000	0.57347	2.290000	0.77057	0.650000	0.86243	ATG	CELA2A	-	NULL	ENSG00000142615		0.537	CELA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELA2A	HGNC	protein_coding	OTTHUMT00000006445.1	56	0.00	0	G	NM_033440	Missense_Mutation	15783251	15783251	+1	no_errors	ENST00000359621	ensembl	human	known	69_37n	missense	62	24.39	20	SNP	0.993	C
CELF3	11189	genome.wustl.edu	37	1	151678416	151678416	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:151678416G>C	ENST00000290583.4	-	11	1945	c.1152C>G	c.(1150-1152)atC>atG	p.I384M	CELF3_ENST00000470688.1_5'UTR|RP11-98D18.1_ENST00000457548.1_RNA|CELF3_ENST00000392706.3_Missense_Mutation_p.I179M|CELF3_ENST00000290585.4_Missense_Mutation_p.I334M	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	384	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						GCAGGTGGTAGATGAAGATGT	0.552																																						dbGAP											0													97.0	90.0	92.0					1																	151678416		2203	4300	6503	-	-	-	SO:0001583	missense	0			U80759	CCDS1002.1, CCDS53367.1	1q21	2013-02-12	2010-02-19	2010-02-19	ENSG00000159409	ENSG00000159409		"""Trinucleotide (CAG) repeat containing"", ""RNA binding motif (RRM) containing"""	11967	protein-coding gene	gene with protein product	"""expanded repeat domain, CAG/CTG 4"", ""CAG repeat domain"", ""CUG-BP and ETR-3 like factor 3"""	612678	"""trinucleotide repeat containing 4"""	TNRC4		9225980	Standard	XM_005244859		Approved	CAGH4, BRUNOL1, ERDA4, MGC57297	uc001eys.2	Q5SZQ8	OTTHUMG00000013064	ENST00000290583.4:c.1152C>G	1.37:g.151678416G>C	ENSP00000290583:p.Ile384Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZKK6|O15414|Q499Y6|Q5SZQ7|Q6NVK0|Q8IZ98|Q9BZC2|Q9HB30	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.I384M	ENST00000290583.4	37	c.1152	CCDS1002.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	19.59|19.59	3.856838|3.856838	0.71834|0.71834	.|.	.|.	ENSG00000159409|ENSG00000159409	ENST00000290585;ENST00000290583;ENST00000392706|ENST00000420342	T;T;T|.	0.21361|.	2.01;2.01;2.01|.	5.0|5.0	4.07|4.07	0.47477|0.47477	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76350|0.76350	0.3975|0.3975	M|M	0.92833|0.92833	3.35|3.35	0.53005|0.53005	D|D	0.999968|0.999968	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.999;1.0|.	D;D;D;D;D|.	0.97110|.	0.998;0.995;1.0;0.998;0.999|.	T|T	0.82444|0.82444	-0.0454|-0.0454	10|5	0.87932|.	D|.	0|.	-20.531|-20.531	12.3643|12.3643	0.55221|0.55221	0.0:0.0:0.8302:0.1698|0.0:0.0:0.8302:0.1698	.|.	179;334;383;384;383|.	B4DQL3;Q5SZQ7;Q5SZQ8-2;Q5SZQ8;Q5SZQ8-3|.	.;.;.;CELF3_HUMAN;.|.	M|C	334;384;179|385	ENSP00000290585:I334M;ENSP00000290583:I384M;ENSP00000376470:I179M|.	ENSP00000290583:I384M|.	I|S	-|-	3|2	3|0	CELF3|CELF3	149945040|149945040	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.966000|0.966000	0.64601|0.64601	2.279000|2.279000	0.43435|0.43435	1.292000|1.292000	0.44672|0.44672	0.448000|0.448000	0.29417|0.29417	ATC|TCT	CELF3	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000159409		0.552	CELF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CELF3	HGNC	protein_coding	OTTHUMT00000036663.2	62	0.00	0	G	NM_007185		151678416	151678416	-1	no_errors	ENST00000290583	ensembl	human	known	69_37n	missense	69	23.33	21	SNP	1.000	C
CELF4	56853	genome.wustl.edu	37	18	35145335	35145335	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr18:35145335G>T	ENST00000591282.1	-	1	269	c.270C>A	c.(268-270)ttC>ttA	p.F90L	CELF4_ENST00000361795.5_Missense_Mutation_p.F90L|CELF4_ENST00000588597.1_Missense_Mutation_p.F90L|CELF4_ENST00000334919.5_Missense_Mutation_p.F90L|CELF4_ENST00000601019.1_Missense_Mutation_p.F90L|CELF4_ENST00000412753.1_Missense_Mutation_p.F90L|CELF4_ENST00000420428.2_Missense_Mutation_p.F90L|CELF4_ENST00000603232.1_Missense_Mutation_p.F90L|CELF4_ENST00000591287.1_Missense_Mutation_p.F90L			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	90	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.|Sufficient for RNA-binding and MSE- dependent splicing activity.				alternative mRNA splicing, via spliceosome (GO:0000380)|embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA splice site selection (GO:0006376)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of translation (GO:0017148)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						GCATGCCTGTGAACCTGTCCT	0.612																																						dbGAP											0													135.0	122.0	126.0					18																	35145335		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF248651	CCDS32818.1, CCDS45857.1, CCDS45858.1	18q12	2013-02-12	2010-02-19	2010-02-19				"""RNA binding motif (RRM) containing"""	14015	protein-coding gene	gene with protein product		612679	"""Bruno (Drosophila) -like 4, RNA binding protein"", ""bruno-like 4, RNA binding protein (Drosophila)"""	BRUNOL4		10893231	Standard	NM_020180		Approved		uc002lae.2	Q9BZC1		ENST00000591282.1:c.270C>A	18.37:g.35145335G>T	ENSP00000464794:p.Phe90Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q59EN7|Q86XB9|Q8N2M6|Q9BQ96|Q9NR84|Q9NR85	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.F90L	ENST00000591282.1	37	c.270	CCDS32818.1	18	.	.	.	.	.	.	.	.	.	.	G	9.951	1.220245	0.22457	.	.	ENSG00000101489	ENST00000361795;ENST00000412753;ENST00000420428;ENST00000334919	T;T;T;T	0.15372	2.43;2.43;2.43;2.43	4.92	4.92	0.64577	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.116118	0.64402	D	0.000016	T	0.10637	0.0260	N	0.04203	-0.255	0.58432	D	0.999999	B;B;B;B;B	0.19200	0.001;0.008;0.034;0.002;0.005	B;B;B;B;B	0.25614	0.003;0.018;0.062;0.017;0.034	T	0.26052	-1.0114	10	0.25751	T	0.34	-5.4357	19.016	0.92894	0.0:0.0:1.0:0.0	.	90;90;90;90;90	Q9BZC1-3;B4DHA8;Q9BZC1-5;Q9BZC1-2;Q9BZC1	.;.;.;.;CELF4_HUMAN	L	90	ENSP00000355089:F90L;ENSP00000406823:F90L;ENSP00000410584:F90L;ENSP00000335631:F90L	ENSP00000335631:F90L	F	-	3	2	CELF4	33399333	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.732000	0.74790	2.651000	0.90000	0.650000	0.86243	TTC	CELF4	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000101489		0.612	CELF4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CELF4	HGNC	protein_coding	OTTHUMT00000440892.1	69	0.00	0	G	NM_020180		35145335	35145335	-1	no_errors	ENST00000361795	ensembl	human	known	69_37n	missense	24	36.84	14	SNP	1.000	T
CELSR1	9620	genome.wustl.edu	37	22	46930596	46930596	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:46930596G>A	ENST00000262738.3	-	1	2471	c.2472C>T	c.(2470-2472)atC>atT	p.I824I	CELSR1_ENST00000497509.1_5'Flank|CELSR1_ENST00000395964.1_Silent_p.I824I	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	824	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCACGTAGGTGATGCGGGCAT	0.577																																						dbGAP											0													113.0	101.0	105.0					22																	46930596		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.2472C>T	22.37:g.46930596G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	pfam_Cadherin,pfam_EGF-like_dom,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,pfscan_EG-like_dom,pfscan_Cadherin,prints_Cadherin	p.S199L	ENST00000262738.3	37	c.596	CCDS14076.1	22	.	.	.	.	.	.	.	.	.	.	G	6.939	0.543037	0.13250	.	.	ENSG00000075275	ENST00000454637	.	.	.	4.31	3.26	0.37387	.	.	.	.	.	T	0.61677	0.2366	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58572	-0.7613	4	.	.	.	.	11.2658	0.49110	0.0:0.0:0.6681:0.3318	.	.	.	.	L	199	.	.	S	-	2	0	CELSR1	45309260	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	2.352000	0.44080	0.896000	0.36366	0.313000	0.20887	TCA	CELSR1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000075275		0.577	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR1	HGNC	protein_coding	OTTHUMT00000318037.1	52	0.00	0	G	NM_014246		46930596	46930596	-1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000454637	ensembl	human	putative	69_37n	missense	82	11.83	11	SNP	1.000	A
CELSR2	1952	genome.wustl.edu	37	1	109795708	109795708	+	Missense_Mutation	SNP	C	C	G	rs202079600		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:109795708C>G	ENST00000271332.3	+	1	3068	c.3007C>G	c.(3007-3009)Ctg>Gtg	p.L1003V		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1003	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GTCAGCTCCTCTGGTGAGCCG	0.572																																					NSCLC(158;1285 2011 34800 34852 42084)	dbGAP											0													76.0	73.0	74.0					1																	109795708		2203	4300	6503	-	-	-	SO:0001583	missense	0			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.3007C>G	1.37:g.109795708C>G	ENSP00000271332:p.Leu1003Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T2Y7|Q92566	Missense_Mutation	SNP	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EGF-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.L1003V	ENST00000271332.3	37	c.3007	CCDS796.1	1	.	.	.	.	.	.	.	.	.	.	N	13.49	2.252546	0.39797	.	.	ENSG00000143126	ENST00000271332	T	0.55234	0.53	4.92	2.97	0.34412	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.60495	0.2273	M	0.81682	2.555	0.39631	D	0.970174	D	0.89917	1.0	D	0.91635	0.999	T	0.64106	-0.6485	9	0.66056	D	0.02	.	7.7325	0.28796	0.0:0.5712:0.0:0.4288	.	1003	Q9HCU4	CELR2_HUMAN	V	1003	ENSP00000271332:L1003V	ENSP00000271332:L1003V	L	+	1	2	CELSR2	109597231	0.099000	0.21834	0.993000	0.49108	0.944000	0.59088	0.644000	0.24766	0.640000	0.30582	0.650000	0.86243	CTG	CELSR2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000143126		0.572	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR2	HGNC	protein_coding	OTTHUMT00000033200.1	44	0.00	0	C	NM_001408		109795708	109795708	+1	no_errors	ENST00000271332	ensembl	human	known	69_37n	missense	28	37.78	17	SNP	0.621	G
CELSR2	1952	genome.wustl.edu	37	1	109803737	109803737	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:109803737C>G	ENST00000271332.3	+	3	4093	c.4032C>G	c.(4030-4032)gtC>gtG	p.V1344V		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1344	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GCACCTGTGTCAACCTGCTGG	0.607																																					NSCLC(158;1285 2011 34800 34852 42084)	dbGAP											0													99.0	95.0	97.0					1																	109803737		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.4032C>G	1.37:g.109803737C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T2Y7|Q92566	Silent	SNP	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EGF-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.V1344	ENST00000271332.3	37	c.4032	CCDS796.1	1																																																																																			CELSR2	-	smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	ENSG00000143126		0.607	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR2	HGNC	protein_coding	OTTHUMT00000033200.1	36	0.00	0	C	NM_001408		109803737	109803737	+1	no_errors	ENST00000271332	ensembl	human	known	69_37n	silent	37	30.19	16	SNP	1.000	G
CELSR2	1952	genome.wustl.edu	37	1	109804503	109804503	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:109804503G>A	ENST00000271332.3	+	5	4432	c.4371G>A	c.(4369-4371)ctG>ctA	p.L1457L		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1457	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CGGTGCAGCTGAAATACTACA	0.587																																					NSCLC(158;1285 2011 34800 34852 42084)	dbGAP											0													86.0	67.0	73.0					1																	109804503		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.4371G>A	1.37:g.109804503G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T2Y7|Q92566	Silent	SNP	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EGF-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.L1457	ENST00000271332.3	37	c.4371	CCDS796.1	1																																																																																			CELSR2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000143126		0.587	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR2	HGNC	protein_coding	OTTHUMT00000033200.1	56	0.00	0	G	NM_001408		109804503	109804503	+1	no_errors	ENST00000271332	ensembl	human	known	69_37n	silent	47	45.98	40	SNP	1.000	A
CELSR2	1952	genome.wustl.edu	37	1	109804950	109804950	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:109804950G>C	ENST00000271332.3	+	6	4489	c.4428G>C	c.(4426-4428)gaG>gaC	p.E1476D		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1476	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GCCCATCAGAGCAGAAGGTGG	0.607																																					NSCLC(158;1285 2011 34800 34852 42084)	dbGAP											0													60.0	58.0	59.0					1																	109804950		2203	4300	6503	-	-	-	SO:0001583	missense	0			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.4428G>C	1.37:g.109804950G>C	ENSP00000271332:p.Glu1476Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T2Y7|Q92566	Missense_Mutation	SNP	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EGF-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.E1476D	ENST00000271332.3	37	c.4428	CCDS796.1	1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.237614	0.22711	.	.	ENSG00000143126	ENST00000271332	T	0.67698	-0.28	4.75	1.64	0.23874	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.09905	0.0243	N	0.00358	-1.6	0.32731	N	0.508934	B	0.10296	0.003	B	0.15052	0.012	T	0.19386	-1.0307	9	0.11182	T	0.66	.	7.9383	0.29944	0.4114:0.0:0.5886:0.0	.	1476	Q9HCU4	CELR2_HUMAN	D	1476	ENSP00000271332:E1476D	ENSP00000271332:E1476D	E	+	3	2	CELSR2	109606473	0.993000	0.37304	1.000000	0.80357	0.966000	0.64601	0.459000	0.21908	0.620000	0.30215	0.462000	0.41574	GAG	CELSR2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000143126		0.607	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR2	HGNC	protein_coding	OTTHUMT00000033200.1	51	0.00	0	G	NM_001408		109804950	109804950	+1	no_errors	ENST00000271332	ensembl	human	known	69_37n	missense	31	52.31	34	SNP	1.000	C
CEND1	51286	genome.wustl.edu	37	11	788566	788566	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:788566C>G	ENST00000330106.4	-	2	186	c.11G>C	c.(10-12)aGa>aCa	p.R4T	CEND1_ENST00000524587.1_Splice_Site	NM_016564.3	NP_057648.2	Q8N111	CEND_HUMAN	cell cycle exit and neuronal differentiation 1	4					adult walking behavior (GO:0007628)|cerebellar granular layer maturation (GO:0021686)|cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of cerebellar granule cell precursor proliferation (GO:0021941)|radial glia guided migration of cerebellar granule cell (GO:0021933)	integral component of membrane (GO:0016021)				prostate(1)	1		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		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)		TGACTTCCCTCTGGACTCCAT	0.672																																						dbGAP											0													54.0	70.0	65.0					11																	788566		2172	4256	6428	-	-	-	SO:0001583	missense	0			AK074547	CCDS7714.1	11p15.5	2006-06-14			ENSG00000184524	ENSG00000184524			24153	protein-coding gene	gene with protein product		608213				11311134	Standard	NM_016564		Approved	FLJ90066, BM88	uc001lrh.1	Q8N111	OTTHUMG00000133308	ENST00000330106.4:c.11G>C	11.37:g.788566C>G	ENSP00000328336:p.Arg4Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NYM6	Splice_Site	SNP	-	NULL	ENST00000330106.4	37	c.NULL	CCDS7714.1	11	.	.	.	.	.	.	.	.	.	.	C	14.92	2.679658	0.47886	.	.	ENSG00000184524	ENST00000330106	.	.	.	4.63	3.46	0.39613	.	0.081661	0.47455	D	0.000236	T	0.36991	0.0987	L	0.27053	0.805	0.31171	N	0.703245	D	0.54964	0.969	P	0.54431	0.752	T	0.40365	-0.9567	9	0.72032	D	0.01	-4.5415	4.8059	0.13319	0.0:0.7539:0.0:0.2461	.	4	Q8N111	CEND_HUMAN	T	4	.	ENSP00000328336:R4T	R	-	2	0	CEND1	778566	0.763000	0.28462	0.999000	0.59377	0.817000	0.46193	0.951000	0.29135	2.286000	0.76751	0.462000	0.41574	AGA	CEND1	-	-	ENSG00000184524		0.672	CEND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEND1	HGNC	protein_coding	OTTHUMT00000257105.1	43	0.00	0	C	NM_016564		788566	788566	-1	no_errors	ENST00000524587	ensembl	human	putative	69_37n	splice_site	33	36.54	19	SNP	1.000	G
CENPC	1060	genome.wustl.edu	37	4	68385221	68385221	+	Splice_Site	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:68385221C>G	ENST00000273853.6	-	6	582		c.e6-1			NM_001812.2	NP_001803.2	Q03188	CENPC_HUMAN	centromere protein C						chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	centromeric DNA binding (GO:0019237)|DNA binding (GO:0003677)										TGGGCCTGAACTAGAAGAAAA	0.274																																						dbGAP											0													23.0	19.0	20.0					4																	68385221		1786	4050	5836	-	-	-	SO:0001630	splice_region_variant	0			M95724	CCDS47063.1	4q13.2	2013-11-05	2013-07-03	2013-07-03	ENSG00000145241	ENSG00000145241			1854	protein-coding gene	gene with protein product		117141	"""centromere protein C 1"""	CENPC1		7959789	Standard	XR_245245		Approved	CENP-C, hcp-4, MIF2	uc003hdd.1	Q03188	OTTHUMG00000160735	ENST00000273853.6:c.332-1G>C	4.37:g.68385221C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IW27|Q9P0M5	Splice_Site	SNP	-	e6-1	ENST00000273853.6	37	c.332-1	CCDS47063.1	4	.	.	.	.	.	.	.	.	.	.	C	9.849	1.193096	0.21954	.	.	ENSG00000145241	ENST00000273853	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0739	0.64877	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CENPC1	68067816	0.984000	0.35163	0.964000	0.40570	0.163000	0.22366	3.199000	0.51043	2.681000	0.91329	0.655000	0.94253	.	CENPC1	-	-	ENSG00000145241		0.274	CENPC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPC1	HGNC	protein_coding	OTTHUMT00000362001.2	83	0.00	0	C		Intron	68385221	68385221	-1	no_errors	ENST00000273853	ensembl	human	known	69_37n	splice_site	49	25.76	17	SNP	0.814	G
CENPE	1062	genome.wustl.edu	37	4	104065686	104065686	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:104065686C>G	ENST00000265148.3	-	33	5036	c.4947G>C	c.(4945-4947)ttG>ttC	p.L1649F	CENPE_ENST00000380026.3_Missense_Mutation_p.L1624F	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1649					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		ATTGCTCCTTCAAGTGTTCTA	0.343																																						dbGAP											0													118.0	114.0	115.0					4																	104065686		2203	4299	6502	-	-	-	SO:0001583	missense	0			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.4947G>C	4.37:g.104065686C>G	ENSP00000265148:p.Leu1649Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.L1649F	ENST00000265148.3	37	c.4947	CCDS34042.1	4	.	.	.	.	.	.	.	.	.	.	C	10.09	1.255065	0.22965	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026	T;T	0.73575	-0.76;-0.76	5.13	0.252	0.15545	.	.	.	.	.	T	0.71417	0.3337	M	0.64170	1.965	0.22446	N	0.999097	P;P	0.51351	0.944;0.617	P;P	0.47470	0.548;0.473	T	0.61840	-0.6980	9	0.72032	D	0.01	.	5.0299	0.14404	0.0:0.4203:0.2611:0.3186	.	1624;1649	Q02224-3;Q02224	.;CENPE_HUMAN	F	1649;1649;1624	ENSP00000265148:L1649F;ENSP00000369365:L1624F	ENSP00000265148:L1649F	L	-	3	2	CENPE	104285135	0.000000	0.05858	0.006000	0.13384	0.416000	0.31233	-1.120000	0.03273	-0.044000	0.13491	-0.277000	0.10078	TTG	CENPE	-	NULL	ENSG00000138778		0.343	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPE	HGNC	protein_coding		109	0.00	0	C			104065686	104065686	-1	no_errors	ENST00000265148	ensembl	human	known	69_37n	missense	76	22.22	22	SNP	0.139	G
CENPE	1062	genome.wustl.edu	37	4	104070123	104070123	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:104070123G>A	ENST00000265148.3	-	28	3810	c.3721C>T	c.(3721-3723)Cat>Tat	p.H1241Y	CENPE_ENST00000380026.3_Missense_Mutation_p.H1216Y	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1241					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		AGGTGAATATGAGCAATTTTT	0.353																																						dbGAP											0													121.0	121.0	121.0					4																	104070123		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.3721C>T	4.37:g.104070123G>A	ENSP00000265148:p.His1241Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.H1241Y	ENST00000265148.3	37	c.3721	CCDS34042.1	4	.	.	.	.	.	.	.	.	.	.	G	12.84	2.058810	0.36277	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026	T;T	0.71341	-0.56;-0.56	4.19	4.19	0.49359	.	.	.	.	.	T	0.75606	0.3872	L	0.60455	1.87	0.24716	N	0.99318	P;D	0.56035	0.886;0.974	P;P	0.52343	0.544;0.696	T	0.68262	-0.5455	9	0.62326	D	0.03	.	13.7669	0.63002	0.0:0.0:1.0:0.0	.	1216;1241	Q02224-3;Q02224	.;CENPE_HUMAN	Y	1241;1241;1216	ENSP00000265148:H1241Y;ENSP00000369365:H1216Y	ENSP00000265148:H1241Y	H	-	1	0	CENPE	104289572	0.063000	0.20901	0.287000	0.24848	0.758000	0.43043	2.934000	0.48956	2.313000	0.78055	0.655000	0.94253	CAT	CENPE	-	superfamily_STAT_TF_coiled-coil	ENSG00000138778		0.353	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPE	HGNC	protein_coding		142	0.00	0	G			104070123	104070123	-1	no_errors	ENST00000265148	ensembl	human	known	69_37n	missense	104	20.00	26	SNP	0.794	A
CENPL	91687	genome.wustl.edu	37	1	173772346	173772346	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:173772346G>C	ENST00000345664.6	-	4	931	c.718C>G	c.(718-720)Ctt>Gtt	p.L240V	CENPL_ENST00000356198.2_Missense_Mutation_p.L286V|CENPL_ENST00000367710.3_Missense_Mutation_p.L240V	NM_001171182.1	NP_001164653.1	Q8N0S6	CENPL_HUMAN	centromere protein L	240					mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(3)	11						ACAGACCAAAGAAATTCAGTA	0.433																																						dbGAP											0													98.0	100.0	99.0					1																	173772346		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC033154, BC019022, AK055606	CCDS30938.1, CCDS44277.1	1q25.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000120334	ENSG00000120334			17879	protein-coding gene	gene with protein product		611503	"""chromosome 1 open reading frame 155"""	C1orf155		16622420, 16622419	Standard	NM_033319		Approved	dJ383J4.3, FLJ31044	uc001gje.4	Q8N0S6	OTTHUMG00000034802	ENST00000345664.6:c.718C>G	1.37:g.173772346G>C	ENSP00000323543:p.Leu240Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TEL5|Q96ND4	Missense_Mutation	SNP	NULL	p.L286V	ENST00000345664.6	37	c.856	CCDS30938.1	1	.	.	.	.	.	.	.	.	.	.	G	7.249	0.602759	0.13939	.	.	ENSG00000120334	ENST00000356198;ENST00000345664;ENST00000367710	T;T;T	0.44083	1.54;0.93;0.93	5.03	2.09	0.27110	.	0.459242	0.21871	N	0.067885	T	0.06690	0.0171	N	0.22421	0.69	0.26216	N	0.979228	B;B	0.23735	0.028;0.09	B;B	0.27608	0.013;0.081	T	0.38329	-0.9666	10	0.05525	T	0.97	.	3.5197	0.07737	0.2549:0.0:0.4706:0.2745	.	286;240	Q8N0S6-2;Q8N0S6	.;CENPL_HUMAN	V	286;240;240	ENSP00000348527:L286V;ENSP00000323543:L240V;ENSP00000356683:L240V	ENSP00000323543:L240V	L	-	1	0	CENPL	172038969	0.402000	0.25311	0.999000	0.59377	0.997000	0.91878	0.199000	0.17237	0.510000	0.28216	0.655000	0.94253	CTT	CENPL	-	NULL	ENSG00000120334		0.433	CENPL-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPL	HGNC	protein_coding	OTTHUMT00000084213.1	87	0.00	0	G	NM_033319		173772346	173772346	-1	no_errors	ENST00000356198	ensembl	human	known	69_37n	missense	77	30.00	33	SNP	0.986	C
CENPF	1063	genome.wustl.edu	37	1	214814716	214814716	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:214814716C>T	ENST00000366955.3	+	12	3203	c.3035C>T	c.(3034-3036)tCa>tTa	p.S1012L		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0					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)		AAAAGCATTTCAGAGTTATCT	0.318																																					Colon(80;575 1284 11000 14801 43496)	dbGAP											0													65.0	73.0	70.0					1																	214814716		2184	4293	6477	-	-	-	SO:0001583	missense	0			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.3035C>T	1.37:g.214814716C>T	ENSP00000355922:p.Ser1012Leu	Somatic		WXS	Illumina GAIIx	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.S1012L	ENST00000366955.3	37	c.3035	CCDS31023.1	1	.	.	.	.	.	.	.	.	.	.	C	10.93	1.491179	0.26774	.	.	ENSG00000117724	ENST00000366955	T	0.03717	3.83	5.16	4.26	0.50523	.	0.560593	0.13551	N	0.379472	T	0.03520	0.0101	.	.	.	0.24045	N	0.996061	P	0.36599	0.56	B	0.33121	0.158	T	0.44636	-0.9315	9	0.33940	T	0.23	.	10.8064	0.46520	0.0:0.8479:0.0:0.1521	.	1012	P49454	CENPF_HUMAN	L	1012	ENSP00000355922:S1012L	ENSP00000355922:S1012L	S	+	2	0	CENPF	212881339	1.000000	0.71417	0.988000	0.46212	0.984000	0.73092	1.665000	0.37449	1.178000	0.42870	0.609000	0.83330	TCA	CENPF	-	NULL	ENSG00000117724		0.318	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPF	HGNC	protein_coding	OTTHUMT00000089749.1	40	0.00	0	C	NM_016343		214814716	214814716	+1	no_errors	ENST00000366955	ensembl	human	known	69_37n	missense	53	11.67	7	SNP	1.000	T
CENPO	79172	genome.wustl.edu	37	2	25037353	25037353	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:25037353C>G	ENST00000380834.2	+	4	750	c.325C>G	c.(325-327)Cat>Gat	p.H109D	CENPO_ENST00000473706.1_Missense_Mutation_p.H103D|CENPO_ENST00000260662.1_Missense_Mutation_p.H109D			Q9BU64	CENPO_HUMAN	centromere protein O	109					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GCAGGCATATCATTTTACAGG	0.368																																						dbGAP											0													147.0	152.0	151.0					2																	25037353		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK027859	CCDS1714.1, CCDS56113.1	2p23.3	2013-11-05			ENSG00000138092	ENSG00000138092			28152	protein-coding gene	gene with protein product		611504				16622420, 16622419	Standard	NM_024322		Approved	MGC11266, CENP-O	uc002rfp.2	Q9BU64	OTTHUMG00000125525	ENST00000380834.2:c.325C>G	2.37:g.25037353C>G	ENSP00000370214:p.His109Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDC0|D6W536|Q53T55|Q96JV3	Missense_Mutation	SNP	pfam_Centromere_CenpO	p.H109D	ENST00000380834.2	37	c.325	CCDS1714.1	2	.	.	.	.	.	.	.	.	.	.	C	12.14	1.849355	0.32699	.	.	ENSG00000138092	ENST00000380834;ENST00000473706;ENST00000260662	T;T;T	0.49720	0.78;0.77;0.78	5.04	5.04	0.67666	.	0.717663	0.14122	N	0.339931	T	0.39489	0.1080	L	0.29908	0.895	0.27251	N	0.958896	B;B	0.21905	0.062;0.01	B;B	0.25759	0.063;0.029	T	0.28490	-1.0042	10	0.46703	T	0.11	-18.6293	13.7524	0.62915	0.0:1.0:0.0:0.0	.	103;109	Q9BU64-2;Q9BU64	.;CENPO_HUMAN	D	109;103;109	ENSP00000370214:H109D;ENSP00000417787:H103D;ENSP00000260662:H109D	ENSP00000260662:H109D	H	+	1	0	CENPO	24890857	0.159000	0.22864	0.985000	0.45067	0.533000	0.34776	1.105000	0.31086	2.621000	0.88768	0.650000	0.86243	CAT	CENPO	-	NULL	ENSG00000138092		0.368	CENPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPO	HGNC	protein_coding	OTTHUMT00000246856.2	93	0.00	0	C	NM_024322		25037353	25037353	+1	no_errors	ENST00000260662	ensembl	human	known	69_37n	missense	60	30.23	26	SNP	0.979	G
CEP120	153241	genome.wustl.edu	37	5	122724186	122724186	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:122724186G>C	ENST00000306467.5	-	9	1674	c.1370C>G	c.(1369-1371)tCa>tGa	p.S457*	CEP120_ENST00000306481.6_Nonsense_Mutation_p.S431*|CEP120_ENST00000328236.5_Nonsense_Mutation_p.S457*			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	457					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)|regulation of protein localization (GO:0032880)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						TAAGTCTATTGAAAAGCAAAA	0.378																																						dbGAP											0													176.0	161.0	166.0					5																	122724186		1854	4100	5954	-	-	-	SO:0001587	stop_gained	0			AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944			26690	protein-coding gene	gene with protein product		613446	"""coiled-coil domain containing 100"""	CCDC100		17920017	Standard	NM_153223		Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.1370C>G	5.37:g.122724186G>C	ENSP00000303058:p.Ser457*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Nonsense_Mutation	SNP	pfam_DUF3668,superfamily_C2_Ca/lipid-bd_dom_CaLB	p.S457*	ENST00000306467.5	37	c.1370	CCDS4134.2	5	.	.	.	.	.	.	.	.	.	.	G	38	6.960338	0.97964	.	.	ENSG00000168944	ENST00000306467;ENST00000328236;ENST00000306481;ENST00000508442	.	.	.	5.26	5.26	0.73747	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-10.0176	19.2381	0.93869	0.0:0.0:1.0:0.0	.	.	.	.	X	457;457;431;431	.	ENSP00000303058:S457X	S	-	2	0	CEP120	122752085	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	7.488000	0.81441	2.619000	0.88677	0.467000	0.42956	TCA	CEP120	-	NULL	ENSG00000168944		0.378	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP120	HGNC	protein_coding	OTTHUMT00000250899.2	104	0.00	0	G	NM_153223		122724186	122724186	-1	no_errors	ENST00000306467	ensembl	human	known	69_37n	nonsense	48	52.00	52	SNP	1.000	C
CEP135	9662	genome.wustl.edu	37	4	56840943	56840943	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:56840943G>A	ENST00000257287.4	+	11	1405	c.1281G>A	c.(1279-1281)atG>atA	p.M427I		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	427					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					TTGAGAGGATGAGACTAGAAC	0.328																																						dbGAP											0													86.0	85.0	85.0					4																	56840943		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"""KIAA0635"", ""centrosomal protein 4"""	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.1281G>A	4.37:g.56840943G>A	ENSP00000257287:p.Met427Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RMY0|O75130|Q58F25|Q9H8H7	Missense_Mutation	SNP	superfamily_Prefoldin	p.M427I	ENST00000257287.4	37	c.1281	CCDS33986.1	4	.	.	.	.	.	.	.	.	.	.	G	26.6	4.756369	0.89843	.	.	ENSG00000174799	ENST00000257287	T	0.45276	0.9	5.64	5.64	0.86602	.	0.070578	0.85682	D	0.000000	T	0.57080	0.2029	M	0.73598	2.24	0.53688	D	0.999976	D	0.53745	0.962	P	0.51355	0.667	T	0.54009	-0.8357	10	0.30854	T	0.27	.	19.7037	0.96065	0.0:0.0:1.0:0.0	.	427	Q66GS9	CP135_HUMAN	I	427	ENSP00000257287:M427I	ENSP00000257287:M427I	M	+	3	0	CEP135	56535700	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.525000	0.81892	2.653000	0.90120	0.455000	0.32223	ATG	CEP135	-	NULL	ENSG00000174799		0.328	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP135	HGNC	protein_coding	OTTHUMT00000362092.2	79	0.00	0	G	NM_025009		56840943	56840943	+1	no_errors	ENST00000257287	ensembl	human	known	69_37n	missense	47	12.96	7	SNP	1.000	A
CEP152	22995	genome.wustl.edu	37	15	49048160	49048160	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:49048160C>A	ENST00000380950.2	-	20	3472	c.3285G>T	c.(3283-3285)caG>caT	p.Q1095H	CEP152_ENST00000399334.3_Missense_Mutation_p.Q1095H|CEP152_ENST00000325747.5_Missense_Mutation_p.Q1002H	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1095					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		GAAATGCTTTCTGTATGCAGC	0.398																																						dbGAP											0													164.0	158.0	160.0					15																	49048160		1982	4157	6139	-	-	-	SO:0001583	missense	0			AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.3285G>T	15.37:g.49048160C>A	ENSP00000370337:p.Gln1095His	Somatic		WXS	Illumina GAIIx	Phase_IV	E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	NULL	p.Q1095H	ENST00000380950.2	37	c.3285	CCDS58361.1	15	.	.	.	.	.	.	.	.	.	.	C	14.06	2.423790	0.43020	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334	T;T;T	0.57436	0.4;0.43;0.43	5.78	3.89	0.44902	.	0.305535	0.31636	N	0.007309	T	0.41858	0.1177	L	0.45581	1.43	0.36263	D	0.854685	B;B;B	0.32382	0.047;0.368;0.125	B;B;B	0.28553	0.032;0.091;0.067	T	0.50092	-0.8868	10	0.51188	T	0.08	-3.148	8.5856	0.33655	0.0:0.7249:0.1281:0.1469	.	1002;1095;1095	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	H	1095;1002;1095	ENSP00000370337:Q1095H;ENSP00000321000:Q1002H;ENSP00000382271:Q1095H	ENSP00000321000:Q1002H	Q	-	3	2	CEP152	46835452	0.998000	0.40836	0.912000	0.35992	0.901000	0.52897	0.397000	0.20883	0.892000	0.36259	0.591000	0.81541	CAG	CEP152	-	NULL	ENSG00000103995		0.398	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP152	HGNC	protein_coding	OTTHUMT00000417365.1	139	0.00	0	C	NM_014985		49048160	49048160	-1	no_errors	ENST00000380950	ensembl	human	known	69_37n	missense	103	23.13	31	SNP	0.999	A
CEP152	22995	genome.wustl.edu	37	15	49076222	49076222	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:49076222C>T	ENST00000380950.2	-	10	1456	c.1269G>A	c.(1267-1269)ttG>ttA	p.L423L	CEP152_ENST00000399334.3_Silent_p.L423L|RP11-485O10.2_ENST00000558304.1_RNA|CEP152_ENST00000325747.5_Silent_p.L330L	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	423					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		GACTTCTTGTCAACTTATTAA	0.428																																						dbGAP											0													122.0	119.0	120.0					15																	49076222		1891	4113	6004	-	-	-	SO:0001819	synonymous_variant	0			AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.1269G>A	15.37:g.49076222C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	E7ER66|Q17RV1|Q6NTA0	Silent	SNP	NULL	p.L423	ENST00000380950.2	37	c.1269	CCDS58361.1	15																																																																																			CEP152	-	NULL	ENSG00000103995		0.428	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP152	HGNC	protein_coding	OTTHUMT00000417365.1	110	0.00	0	C	NM_014985		49076222	49076222	-1	no_errors	ENST00000380950	ensembl	human	known	69_37n	silent	76	24.75	25	SNP	0.898	T
CEP152	22995	genome.wustl.edu	37	15	49089677	49089677	+	Missense_Mutation	SNP	G	G	C	rs200379265		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:49089677G>C	ENST00000380950.2	-	5	548	c.361C>G	c.(361-363)Cct>Gct	p.P121A	CEP152_ENST00000399334.3_Missense_Mutation_p.P121A|CEP152_ENST00000325747.5_Intron	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	121					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CCTTCTTCAGGATGGTACACA	0.388																																						dbGAP											0													118.0	107.0	110.0					15																	49089677		1876	4100	5976	-	-	-	SO:0001583	missense	0			AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.361C>G	15.37:g.49089677G>C	ENSP00000370337:p.Pro121Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	NULL	p.P121A	ENST00000380950.2	37	c.361	CCDS58361.1	15	.	.	.	.	.	.	.	.	.	.	G	13.18	2.158922	0.38119	.	.	ENSG00000103995	ENST00000380950;ENST00000399334;ENST00000541880	T;T	0.20069	2.1;2.1	4.63	1.52	0.23074	.	0.887892	0.09885	N	0.743139	T	0.18173	0.0436	L	0.60455	1.87	0.09310	N	0.999999	P;P	0.42871	0.597;0.792	B;B	0.37601	0.152;0.254	T	0.14671	-1.0464	10	0.18710	T	0.47	-1.0716	8.2084	0.31469	0.0:0.4477:0.4008:0.1515	.	121;121	E7ER66;O94986	.;CE152_HUMAN	A	121	ENSP00000370337:P121A;ENSP00000382271:P121A	ENSP00000370337:P121A	P	-	1	0	CEP152	46876969	0.005000	0.15991	0.395000	0.26283	0.946000	0.59487	1.226000	0.32563	1.125000	0.41998	0.467000	0.42956	CCT	CEP152	-	NULL	ENSG00000103995		0.388	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP152	HGNC	protein_coding	OTTHUMT00000417365.1	145	0.00	0	G	NM_014985		49089677	49089677	-1	no_errors	ENST00000380950	ensembl	human	known	69_37n	missense	104	22.39	30	SNP	0.063	C
CEP164	22897	genome.wustl.edu	37	11	117232564	117232564	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:117232564C>T	ENST00000278935.3	+	6	554	c.407C>T	c.(406-408)tCa>tTa	p.S136L		NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	136	Interaction with ATRIP.				cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		TTGGGTTCCTCATTAGCCCCA	0.493																																						dbGAP											0													156.0	149.0	151.0					11																	117232564		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.407C>T	11.37:g.117232564C>T	ENSP00000278935:p.Ser136Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Missense_Mutation	SNP	superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	p.S136L	ENST00000278935.3	37	c.407	CCDS31683.1	11	.	.	.	.	.	.	.	.	.	.	C	13.68	2.310469	0.40895	.	.	ENSG00000110274	ENST00000533153;ENST00000278935;ENST00000525416;ENST00000529538	T;T;T	0.64618	-0.11;0.21;-0.1	5.21	4.3	0.51218	.	0.167404	0.28778	N	0.014168	T	0.47451	0.1446	N	0.21583	0.68	0.26704	N	0.97112	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.12837	0.003;0.004;0.008	T	0.40720	-0.9548	10	0.40728	T	0.16	-0.0363	12.0962	0.53757	0.0:0.9154:0.0:0.0846	.	136;136;136	E9PI34;Q9UPV0;Q9UPV0-2	.;CE164_HUMAN;.	L	90;136;90;136	ENSP00000436034:S90L;ENSP00000278935:S136L;ENSP00000435759:S90L	ENSP00000278935:S136L	S	+	2	0	CEP164	116737774	0.041000	0.20044	0.980000	0.43619	0.958000	0.62258	0.519000	0.22862	1.333000	0.45449	-0.137000	0.14449	TCA	CEP164	-	NULL	ENSG00000110274		0.493	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP164	HGNC	protein_coding	OTTHUMT00000392893.1	94	0.00	0	C	NM_014956		117232564	117232564	+1	no_errors	ENST00000278935	ensembl	human	known	69_37n	missense	79	26.17	28	SNP	0.981	T
CEP170	9859	genome.wustl.edu	37	1	243349647	243349647	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:243349647G>A	ENST00000366542.1	-	9	1237	c.1186C>T	c.(1186-1188)Ctt>Ttt	p.L396F	CEP170_ENST00000366544.1_Missense_Mutation_p.L396F|CEP170_ENST00000366543.1_Missense_Mutation_p.L396F	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	396						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)			TGTTCCTCAAGAGTTGCACGT	0.448																																						dbGAP											0													172.0	164.0	166.0					1																	243349647		1957	4146	6103	-	-	-	SO:0001583	missense	0			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.1186C>T	1.37:g.243349647G>A	ENSP00000355500:p.Leu396Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_Fibronectin_type3,smart_FHA_dom,pfscan_FHA_dom	p.L396F	ENST00000366542.1	37	c.1186	CCDS44339.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.87|16.87	3.242121|3.242121	0.58995|0.58995	.|.	.|.	ENSG00000143702|ENSG00000143702	ENST00000366542;ENST00000366544;ENST00000366543;ENST00000424081|ENST00000522895	T;T;T|.	0.52295|.	0.67;0.75;0.75|.	5.3|5.3	4.39|4.39	0.52855|0.52855	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.64182|0.64182	0.2575|0.2575	M|M	0.67397|0.67397	2.05|2.05	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.999;1.0|.	D;D;D|.	0.87578|.	0.998;0.995;0.995|.	T|T	0.62937|0.62937	-0.6748|-0.6748	10|5	0.56958|.	D|.	0.05|.	-2.2825|-2.2825	9.9839|9.9839	0.41830|0.41830	0.154:0.0:0.846:0.0|0.154:0.0:0.846:0.0	.|.	396;396;396|.	Q5SW79-3;Q5SW79-2;Q5SW79|.	.;.;CE170_HUMAN|.	F|F	396;396;396;294|22	ENSP00000355500:L396F;ENSP00000355502:L396F;ENSP00000355501:L396F|.	ENSP00000355500:L396F|.	L|S	-|-	1|2	0|0	CEP170|CEP170	241416270|241416270	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.997000|0.997000	0.91878|0.91878	4.681000|4.681000	0.61663|0.61663	1.227000|1.227000	0.43598|0.43598	0.585000|0.585000	0.79938|0.79938	CTT|TCT	CEP170	-	NULL	ENSG00000143702		0.448	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	CEP170	HGNC	protein_coding	OTTHUMT00000096178.2	198	0.00	0	G	NM_014812		243349647	243349647	-1	no_errors	ENST00000366542	ensembl	human	known	69_37n	missense	217	13.55	34	SNP	1.000	A
CEP19	84984	genome.wustl.edu	37	3	196434662	196434662	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:196434662C>G	ENST00000399942.4	-	2	441	c.147G>C	c.(145-147)caG>caC	p.Q49H	CEP19_ENST00000409690.3_Missense_Mutation_p.Q88H|RNU6-646P_ENST00000364571.1_RNA			Q96LK0	CEP19_HUMAN	centrosomal protein 19kDa	84						centriole (GO:0005814)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	10						CTGCCAGACTCTGCCCCGACA	0.423																																						dbGAP											0													188.0	172.0	177.0					3																	196434662		1899	4127	6026	-	-	-	SO:0001583	missense	0			BC007827	CCDS43193.2	3q29	2014-02-20	2011-05-06	2011-05-06	ENSG00000174007	ENSG00000174007			28209	protein-coding gene	gene with protein product		615586	"""chromosome 3 open reading frame 34"""	C3orf34		21399614	Standard	XM_005269370		Approved	MGC14126	uc011btw.2	Q96LK0	OTTHUMG00000153933	ENST00000399942.4:c.147G>C	3.37:g.196434662C>G	ENSP00000382823:p.Gln49His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RA74|Q96I48	Missense_Mutation	SNP	NULL	p.Q88H	ENST00000399942.4	37	c.264		3	.	.	.	.	.	.	.	.	.	.	C	8.994	0.978389	0.18812	.	.	ENSG00000174007	ENST00000409690;ENST00000399942	.	.	.	5.56	2.78	0.32641	.	0.406515	0.27696	N	0.018226	T	0.47563	0.1452	L	0.56769	1.78	0.31348	N	0.682873	P	0.48503	0.911	P	0.47941	0.562	T	0.54351	-0.8307	9	0.38643	T	0.18	-15.3249	9.5155	0.39102	0.0:0.6592:0.0:0.3408	.	84	Q96LK0	CEP19_HUMAN	H	88;49	.	ENSP00000382823:Q49H	Q	-	3	2	CEP19	197919059	0.997000	0.39634	1.000000	0.80357	0.741000	0.42261	0.460000	0.21924	0.831000	0.34780	0.655000	0.94253	CAG	CEP19	-	NULL	ENSG00000174007		0.423	CEP19-002	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	CEP19	HGNC	protein_coding	OTTHUMT00000333081.1	187	0.00	0	C	NM_032898		196434662	196434662	-1	no_errors	ENST00000409690	ensembl	human	known	69_37n	missense	196	18.33	44	SNP	0.909	G
CEP250	11190	genome.wustl.edu	37	20	34090500	34090500	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:34090500G>C	ENST00000397527.1	+	30	5023	c.4303G>C	c.(4303-4305)Gag>Cag	p.E1435Q	CEP250_ENST00000342580.4_Missense_Mutation_p.E1379Q	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1435	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			TGAAAGAGAAGAGGAGGTGGA	0.557																																						dbGAP											0													43.0	50.0	48.0					20																	34090500		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.4303G>C	20.37:g.34090500G>C	ENSP00000380661:p.Glu1435Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	superfamily_Prefoldin	p.E1435Q	ENST00000397527.1	37	c.4303	CCDS13255.1	20	.	.	.	.	.	.	.	.	.	.	G	0.045	-1.268373	0.01433	.	.	ENSG00000126001	ENST00000397527;ENST00000342580	T;T	0.09911	2.94;2.93	4.33	-2.73	0.05950	.	1.227590	0.05630	N	0.581531	T	0.04137	0.0115	N	0.03324	-0.35	0.09310	N	1	B	0.21452	0.056	B	0.23275	0.045	T	0.44019	-0.9355	10	0.14252	T	0.57	.	6.1091	0.20090	0.3324:0.2355:0.4321:0.0	.	1435	Q9BV73	CP250_HUMAN	Q	1435;1379	ENSP00000380661:E1435Q;ENSP00000341541:E1379Q	ENSP00000341541:E1379Q	E	+	1	0	CEP250	33553914	0.000000	0.05858	0.019000	0.16419	0.013000	0.08279	-0.327000	0.07955	-0.277000	0.09193	-0.459000	0.05422	GAG	CEP250	-	NULL	ENSG00000126001		0.557	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP250	HGNC	protein_coding	OTTHUMT00000078877.7	23	0.00	0	G	NM_007186		34090500	34090500	+1	no_errors	ENST00000397527	ensembl	human	known	69_37n	missense	50	16.67	10	SNP	0.001	C
CEP290	80184	genome.wustl.edu	37	12	88478577	88478577	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:88478577G>C	ENST00000552810.1	-	35	4833	c.4490C>G	c.(4489-4491)tCa>tGa	p.S1497*	CEP290_ENST00000547691.2_Nonsense_Mutation_p.S557*|CEP290_ENST00000397838.3_Nonsense_Mutation_p.S557*|CEP290_ENST00000309041.7_Nonsense_Mutation_p.S1499*	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1497					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TTTGTCTCTTGACAGTATATT	0.343																																						dbGAP											0													86.0	77.0	80.0					12																	88478577		1829	4080	5909	-	-	-	SO:0001587	stop_gained	0			AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.4490C>G	12.37:g.88478577G>C	ENSP00000448012:p.Ser1497*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Nonsense_Mutation	SNP	NULL	p.S1499*	ENST00000552810.1	37	c.4496	CCDS55858.1	12	.	.	.	.	.	.	.	.	.	.	G	46	12.952079	0.99708	.	.	ENSG00000198707	ENST00000547691;ENST00000552810;ENST00000309041;ENST00000397838	.	.	.	5.48	5.48	0.80851	.	0.221944	0.42548	D	0.000688	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	15.2257	0.73348	0.0:0.1401:0.8599:0.0	.	.	.	.	X	557;1497;1499;557	.	ENSP00000308021:S1499X	S	-	2	0	CEP290	87002708	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.225000	0.78051	2.725000	0.93324	0.655000	0.94253	TCA	CEP290	-	NULL	ENSG00000198707		0.343	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CEP290	HGNC	protein_coding	OTTHUMT00000406344.1	142	0.00	0	G	NM_025114		88478577	88478577	-1	no_errors	ENST00000309041	ensembl	human	known	69_37n	nonsense	116	22.67	34	SNP	1.000	C
CEP63	80254	genome.wustl.edu	37	3	134278053	134278053	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:134278053C>A	ENST00000337090.3	+	14	1908	c.1735C>A	c.(1735-1737)Cat>Aat	p.H579N	CEP63_ENST00000606977.1_Missense_Mutation_p.H579N|CEP63_ENST00000354446.3_Intron|CEP63_ENST00000513612.2_Missense_Mutation_p.H579N|CEP63_ENST00000332047.5_Intron|CEP63_ENST00000383229.3_Intron			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	579					centriole replication (GO:0007099)|DNA damage checkpoint (GO:0000077)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|signal transduction in response to DNA damage (GO:0042770)|spindle assembly (GO:0051225)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|spindle pole (GO:0000922)				kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AACAGATCTTCATTCTCCAAG	0.453																																						dbGAP											0													158.0	156.0	157.0					3																	134278053		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK056465	CCDS3086.1, CCDS43152.1, CCDS43153.1, CCDS43154.1	3q22.1	2014-02-20			ENSG00000182923	ENSG00000182923			25815	protein-coding gene	gene with protein product		614724				14654843, 24240477	Standard	NM_001042383		Approved	FLJ13386	uc003eqo.1	Q96MT8	OTTHUMG00000159725	ENST00000337090.3:c.1735C>A	3.37:g.134278053C>A	ENSP00000336524:p.His579Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DND8|D3DND9|D3DNE0|Q96CR0|Q9H8F5|Q9H8N0	Missense_Mutation	SNP	NULL	p.H579N	ENST00000337090.3	37	c.1735	CCDS3086.1	3	.	.	.	.	.	.	.	.	.	.	C	11.45	1.641231	0.29157	.	.	ENSG00000182923	ENST00000337090;ENST00000513612	T;T	0.17854	2.25;2.25	4.77	1.77	0.24775	.	0.475122	0.20060	N	0.100117	T	0.10637	0.0260	L	0.31294	0.92	0.09310	N	1	B	0.22146	0.065	B	0.21546	0.035	T	0.25433	-1.0132	10	0.29301	T	0.29	0.0433	6.4999	0.22164	0.0:0.548:0.3546:0.0974	.	579	Q96MT8	CEP63_HUMAN	N	579	ENSP00000336524:H579N;ENSP00000426129:H579N	ENSP00000336524:H579N	H	+	1	0	CEP63	135760743	0.007000	0.16637	0.456000	0.27044	0.870000	0.49936	0.402000	0.20965	0.703000	0.31848	0.650000	0.86243	CAT	CEP63	-	NULL	ENSG00000182923		0.453	CEP63-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP63	HGNC	protein_coding	OTTHUMT00000470139.1	59	0.00	0	C	NM_025180		134278053	134278053	+1	no_errors	ENST00000337090	ensembl	human	known	69_37n	missense	83	11.70	11	SNP	0.072	A
CEP68	23177	genome.wustl.edu	37	2	65300103	65300103	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:65300103C>T	ENST00000377990.2	+	3	2076	c.1873C>T	c.(1873-1875)Caa>Taa	p.Q625*	CEP68_ENST00000260569.4_Intron|CEP68_ENST00000497039.1_3'UTR|CEP68_ENST00000546106.1_Nonsense_Mutation_p.Q625*|RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000537589.1_Nonsense_Mutation_p.Q237*	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	625					centriole-centriole cohesion (GO:0010457)|centrosome organization (GO:0051297)|protein localization to organelle (GO:0033365)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						ATCACTGGTGCAATGTGTGAA	0.473																																						dbGAP											0													69.0	73.0	72.0					2																	65300103		2019	4185	6204	-	-	-	SO:0001587	stop_gained	0			BC004873	CCDS1880.2	2p14	2014-02-20	2005-12-01	2005-12-01	ENSG00000011523	ENSG00000011523			29076	protein-coding gene	gene with protein product			"""KIAA0582"""	KIAA0582		9628581, 9847074, 14654843	Standard	NM_015147		Approved		uc002sdl.4	Q76N32	OTTHUMG00000129538	ENST00000377990.2:c.1873C>T	2.37:g.65300103C>T	ENSP00000367229:p.Gln625*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DRQ1|D6W5F1|D6W5F2|O60326|Q9BQ18|Q9UDM9	Nonsense_Mutation	SNP	NULL	p.Q625*	ENST00000377990.2	37	c.1873	CCDS1880.2	2	.	.	.	.	.	.	.	.	.	.	C	44	11.189944	0.99528	.	.	ENSG00000011523	ENST00000377990;ENST00000546106;ENST00000537589;ENST00000545501	.	.	.	5.84	5.84	0.93424	.	0.212421	0.40640	N	0.001043	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-3.7779	15.6391	0.76981	0.0:1.0:0.0:0.0	.	.	.	.	X	625;625;237;613	.	ENSP00000367229:Q625X	Q	+	1	0	CEP68	65153607	0.984000	0.35163	0.945000	0.38365	0.812000	0.45895	4.350000	0.59392	2.764000	0.94973	0.655000	0.94253	CAA	CEP68	-	NULL	ENSG00000011523		0.473	CEP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP68	HGNC	protein_coding	OTTHUMT00000251727.2	31	0.00	0	C	NM_015147		65300103	65300103	+1	no_errors	ENST00000377990	ensembl	human	known	69_37n	nonsense	34	17.07	7	SNP	0.973	T
CEP78	84131	genome.wustl.edu	37	9	80879216	80879216	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:80879216C>T	ENST00000424347.2	+	13	1898	c.1609C>T	c.(1609-1611)Ctc>Ttc	p.L537F	CEP78_ENST00000415759.2_Missense_Mutation_p.L538F|CEP78_ENST00000376598.2_Missense_Mutation_p.L537F|CEP78_ENST00000376597.4_Missense_Mutation_p.L538F|CEP78_ENST00000277082.5_Missense_Mutation_p.L537F			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	537					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						TTTCTTGGATCTCCTTAAAGA	0.398																																						dbGAP											0													107.0	103.0	104.0					9																	80879216		1860	4087	5947	-	-	-	SO:0001583	missense	0			BC058931	CCDS47984.1, CCDS47985.1	9q21.2	2014-02-20	2005-12-01	2005-12-01	ENSG00000148019	ENSG00000148019			25740	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 81"""	C9orf81		14654843	Standard	NM_001098802		Approved	FLJ12643	uc004aky.4	Q5JTW2	OTTHUMG00000020062	ENST00000424347.2:c.1609C>T	9.37:g.80879216C>T	ENSP00000411284:p.Leu537Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A4S8|E9PHX5|Q5BJE3|Q5JTW0|Q5JTW1|Q9H9N3	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.L538F	ENST00000424347.2	37	c.1612		9	.	.	.	.	.	.	.	.	.	.	C	23.8	4.456322	0.84317	.	.	ENSG00000148019	ENST00000424347;ENST00000415085;ENST00000415759;ENST00000376597;ENST00000277082;ENST00000376598	T;T;T;T;T	0.48201	0.85;1.03;0.82;0.84;0.83	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.70298	0.3208	M	0.75264	2.295	0.53005	D	0.999967	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.998	T	0.73154	-0.4072	10	0.72032	D	0.01	-9.9274	18.3668	0.90394	0.0:1.0:0.0:0.0	.	538;538;537	E9PHX5;Q5JTW2-2;Q5JTW2	.;.;CEP78_HUMAN	F	537;537;538;538;537;537	ENSP00000411284:L537F;ENSP00000399286:L538F;ENSP00000365782:L538F;ENSP00000277082:L537F;ENSP00000365783:L537F	ENSP00000277082:L537F	L	+	1	0	CEP78	80069036	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.902000	0.63266	2.556000	0.86216	0.563000	0.77884	CTC	CEP78	-	NULL	ENSG00000148019		0.398	CEP78-001	KNOWN	basic|appris_candidate	protein_coding	CEP78	HGNC	protein_coding	OTTHUMT00000052766.2	125	0.00	0	C	XM_095991		80879216	80879216	+1	no_errors	ENST00000376597	ensembl	human	known	69_37n	missense	99	19.51	24	SNP	1.000	T
CEP85	64793	genome.wustl.edu	37	1	26582246	26582246	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:26582246C>T	ENST00000252992.4	+	4	924	c.793C>T	c.(793-795)Cag>Tag	p.Q265*	CEP85_ENST00000451429.2_Nonsense_Mutation_p.Q214*	NM_001281517.1|NM_022778.2	NP_001268446.1|NP_073615.2	Q6P2H3	CEP85_HUMAN	centrosomal protein 85kDa	265						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|spindle pole (GO:0000922)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						TCTGCCCTCTCAGGTGTGGCA	0.572																																						dbGAP											0													50.0	52.0	51.0					1																	26582246		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK024038	CCDS277.1, CCDS60038.1	1p36.11	2014-02-20	2011-05-06	2011-05-06	ENSG00000130695	ENSG00000130695			25309	protein-coding gene	gene with protein product			"""coiled-coil domain containing 21"""	CCDC21		12477932	Standard	NM_022778		Approved	DKFZP434L0117	uc001bls.1	Q6P2H3	OTTHUMG00000003380	ENST00000252992.4:c.793C>T	1.37:g.26582246C>T	ENSP00000252992:p.Gln265*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DRL1|D3DPK4|F8W7K4|Q5VY68|Q5VY70|Q9H6Q1|Q9H828|Q9UF52	Nonsense_Mutation	SNP	NULL	p.Q265*	ENST00000252992.4	37	c.793	CCDS277.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.562538	0.96527	.	.	ENSG00000130695	ENST00000451429;ENST00000252992	.	.	.	5.95	5.95	0.96441	.	0.134612	0.52532	D	0.000075	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-5.5268	18.5737	0.91147	0.0:1.0:0.0:0.0	.	.	.	.	X	214;265	.	ENSP00000252992:Q265X	Q	+	1	0	CEP85	26454833	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.954000	0.63631	2.824000	0.97209	0.655000	0.94253	CAG	CEP85	-	NULL	ENSG00000130695		0.572	CEP85-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	CEP85	HGNC	protein_coding	OTTHUMT00000009492.2	48	0.00	0	C	NM_022778		26582246	26582246	+1	no_errors	ENST00000252992	ensembl	human	known	69_37n	nonsense	29	45.28	24	SNP	1.000	T
CEP85L	387119	genome.wustl.edu	37	6	118953630	118953630	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:118953630G>C	ENST00000368491.3	-	2	839	c.218C>G	c.(217-219)tCt>tGt	p.S73C	CEP85L_ENST00000392500.3_Missense_Mutation_p.S76C|CEP85L_ENST00000368488.5_Missense_Mutation_p.S76C|CEP85L_ENST00000419517.2_Missense_Mutation_p.S73C|CEP85L_ENST00000360290.3_5'UTR	NM_001042475.2	NP_001035940.1	Q5SZL2	CE85L_HUMAN	centrosomal protein 85kDa-like	73						centrosome (GO:0005813)|cytoplasm (GO:0005737)											CACGCTATCAGAACAGGAAGT	0.393																																						dbGAP											0													102.0	92.0	95.0					6																	118953630		1861	4120	5981	-	-	-	SO:0001583	missense	0			AF308284	CCDS5119.2, CCDS43498.1, CCDS55052.1	6q22.31	2011-11-25	2011-11-25	2011-11-25	ENSG00000111860	ENSG00000111860			21638	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 204"""	C6orf204			Standard	NM_206921		Approved	NY-BR-15, bA57K17.2	uc003pya.2	Q5SZL2	OTTHUMG00000015465	ENST00000368491.3:c.218C>G	6.37:g.118953630G>C	ENSP00000357477:p.Ser73Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A4E1|A2A3P2|A2IDE5|F8W6J2|G3V0H3|Q2TAM2|Q5T323|Q7Z5K7|Q9H289	Missense_Mutation	SNP	NULL	p.S76C	ENST00000368491.3	37	c.227	CCDS43498.1	6	.	.	.	.	.	.	.	.	.	.	G	21.8	4.206035	0.79127	.	.	ENSG00000111860	ENST00000368491;ENST00000368488;ENST00000434604;ENST00000392500;ENST00000419517	T;T;T;T;T	0.25912	1.77;1.77;1.77;1.77;1.77	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.38295	0.1035	L	0.39898	1.24	0.48341	D	0.999637	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.15983	-1.0418	10	0.87932	D	0	-10.0205	20.1012	0.97876	0.0:0.0:1.0:0.0	.	76;73;76;73	Q5SZL2-2;G3V0H3;F8W6J2;Q5SZL2	.;.;.;CF204_HUMAN	C	73;76;76;76;73	ENSP00000357477:S73C;ENSP00000357474:S76C;ENSP00000392131:S76C;ENSP00000376288:S76C;ENSP00000393317:S73C	ENSP00000357474:S76C	S	-	2	0	C6orf204	119060323	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.144000	0.77357	2.754000	0.94517	0.650000	0.86243	TCT	CEP85L	-	NULL	ENSG00000111860		0.393	CEP85L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP85L	HGNC	protein_coding	OTTHUMT00000041996.2	64	0.00	0	G	NM_001042475		118953630	118953630	-1	no_errors	ENST00000368488	ensembl	human	known	69_37n	missense	39	18.37	9	SNP	1.000	C
CEP89	84902	genome.wustl.edu	37	19	33424388	33424388	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:33424388G>C	ENST00000305768.5	-	8	943	c.855C>G	c.(853-855)ctC>ctG	p.L285L	CEP89_ENST00000590597.2_Silent_p.L285L	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	285					cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						CAGCCTCTTTGAGCTTTCTCT	0.393																																						dbGAP											0													228.0	205.0	213.0					19																	33424388		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL832158	CCDS32987.1	19q13.11	2014-02-20	2011-05-06	2011-05-06		ENSG00000121289			25907	protein-coding gene	gene with protein product		615470	"""coiled-coil domain containing 123"""	CCDC123		16395595	Standard	NM_032816		Approved	FLJ14640	uc002nty.3	Q96ST8		ENST00000305768.5:c.855C>G	19.37:g.33424388G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGA6|Q8N5J8	Silent	SNP	NULL	p.L285	ENST00000305768.5	37	c.855	CCDS32987.1	19																																																																																			CEP89	-	NULL	ENSG00000121289		0.393	CEP89-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP89	HGNC	protein_coding	OTTHUMT00000451300.2	203	0.00	0	G	NM_032816		33424388	33424388	-1	no_errors	ENST00000305768	ensembl	human	known	69_37n	silent	159	29.96	68	SNP	0.008	C
CEP95	90799	genome.wustl.edu	37	17	62512925	62512925	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:62512925G>T	ENST00000556440.2	+	5	962	c.452G>T	c.(451-453)tGg>tTg	p.W151L	CEP95_ENST00000553412.1_Intron	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	151						centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						AAATCATCATGGAAAAGAGTT	0.348																																						dbGAP											0													108.0	104.0	105.0					17																	62512925		1828	4074	5902	-	-	-	SO:0001583	missense	0			AL832822	CCDS45763.1	17q24.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000258890	ENSG00000258890			25141	protein-coding gene	gene with protein product			"""coiled-coil domain containing 45"""	CCDC45		21399614	Standard	NM_138363		Approved	DKFZp667E1824	uc002jem.3	Q96GE4	OTTHUMG00000179174	ENST00000556440.2:c.452G>T	17.37:g.62512925G>T	ENSP00000450461:p.Trp151Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DMD2|Q96M81	Missense_Mutation	SNP	superfamily_CH-domain	p.W151L	ENST00000556440.2	37	c.452	CCDS45763.1	17	.	.	.	.	.	.	.	.	.	.	G	0.557	-0.846858	0.02671	.	.	ENSG00000258890	ENST00000556440	T	0.35973	1.28	4.98	2.96	0.34315	.	0.853412	0.10571	N	0.659084	T	0.25382	0.0617	L	0.39898	1.24	0.80722	D	1	B	0.33238	0.403	B	0.33890	0.172	T	0.04991	-1.0913	10	0.10902	T	0.67	-1.2226	6.0708	0.19887	0.1022:0.2179:0.68:0.0	.	151	Q96GE4	CEP95_HUMAN	L	151	ENSP00000450461:W151L	ENSP00000437744:W151L	W	+	2	0	CEP95	59943387	0.996000	0.38824	1.000000	0.80357	0.161000	0.22273	1.714000	0.37961	1.441000	0.47550	0.650000	0.86243	TGG	CEP95	-	NULL	ENSG00000258890		0.348	CEP95-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP95	HGNC	protein_coding	OTTHUMT00000445100.2	98	0.00	0	G	NM_138363		62512925	62512925	+1	no_errors	ENST00000556440	ensembl	human	known	69_37n	missense	168	10.16	19	SNP	0.994	T
CEP97	79598	genome.wustl.edu	37	3	101447748	101447748	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:101447748G>C	ENST00000341893.3	+	4	1166	c.414G>C	c.(412-414)caG>caC	p.Q138H	CEP97_ENST00000327230.4_Missense_Mutation_p.Q138H|CEP97_ENST00000494050.1_Missense_Mutation_p.Q138H			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	138					cell projection organization (GO:0030030)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						ATATATCCCAGATAGGTGATC	0.343																																						dbGAP											0													143.0	143.0	143.0					3																	101447748		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL833269	CCDS2944.1	3q12.3	2014-02-20	2008-01-08	2008-01-08	ENSG00000182504	ENSG00000182504			26244	protein-coding gene	gene with protein product		615864	"""leucine-rich repeats and IQ motif containing 2"""	LRRIQ2		17719545, 18068367	Standard	NM_024548		Approved	FLJ23047	uc003dvk.1	Q8IW35	OTTHUMG00000159162	ENST00000341893.3:c.414G>C	3.37:g.101447748G>C	ENSP00000342510:p.Gln138His	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDY8|Q8NA71|Q9H5T9	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.Q138H	ENST00000341893.3	37	c.414	CCDS2944.1	3	.	.	.	.	.	.	.	.	.	.	G	12.64	1.998579	0.35226	.	.	ENSG00000182504	ENST00000341893;ENST00000327230;ENST00000494050	T;T;T	0.55052	0.54;0.54;0.54	5.5	2.27	0.28462	.	0.174451	0.50627	D	0.000107	T	0.53334	0.1790	L	0.33093	0.98	0.41263	D	0.986792	D;B	0.89917	1.0;0.121	D;B	0.77557	0.99;0.215	T	0.47368	-0.9123	10	0.14656	T	0.56	-11.0752	8.129	0.31016	0.405:0.0:0.595:0.0	.	138;138	E9PG22;Q8IW35	.;CEP97_HUMAN	H	138	ENSP00000342510:Q138H;ENSP00000325881:Q138H;ENSP00000418185:Q138H	ENSP00000325881:Q138H	Q	+	3	2	CEP97	102930438	0.998000	0.40836	1.000000	0.80357	0.868000	0.49771	0.618000	0.24373	0.814000	0.34374	-0.150000	0.13652	CAG	CEP97	-	NULL	ENSG00000182504		0.343	CEP97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP97	HGNC	protein_coding	OTTHUMT00000353597.2	161	0.00	0	G	NM_024548		101447748	101447748	+1	no_errors	ENST00000327230	ensembl	human	known	69_37n	missense	175	15.05	31	SNP	0.998	C
CER1	9350	genome.wustl.edu	37	9	14722627	14722627	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:14722627C>G	ENST00000380911.3	-	1	88	c.44G>C	c.(43-45)gGa>gCa	p.G15A		NM_005454.2	NP_005445.1	O95813	CER1_HUMAN	cerberus 1, DAN family BMP antagonist	15					anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|bone mineralization (GO:0030282)|cell migration involved in gastrulation (GO:0042074)|cellular response to BMP stimulus (GO:0071773)|determination of dorsal identity (GO:0048263)|gastrulation (GO:0007369)|growth plate cartilage chondrocyte proliferation (GO:0003419)|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 mesoderm development (GO:2000381)|nervous system development (GO:0007399)|sequestering of BMP in extracellular matrix (GO:0035582)|signal transduction involved in regulation of gene expression (GO:0023019)|ureteric bud development (GO:0001657)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	BMP binding (GO:0036122)|morphogen activity (GO:0016015)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		TGTGGTCTTTCCTAGAGGCAG	0.527																																						dbGAP											0													75.0	76.0	76.0					9																	14722627		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF090189	CCDS6476.1	9p23-p22	2013-02-26	2013-02-26		ENSG00000147869	ENSG00000147869			1862	protein-coding gene	gene with protein product		603777	"""cerberus 1 (Xenopus laevis) homolog (cysteine knot superfamily)"", ""cerberus 1, cysteine knot superfamily, homolog (Xenopus laevis)"""			10049596	Standard	NM_005454		Approved	DAND4	uc003zlj.3	O95813	OTTHUMG00000021022	ENST00000380911.3:c.44G>C	9.37:g.14722627C>G	ENSP00000370297:p.Gly15Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ISJ1|Q6ISJ6|Q6ISQ2|Q6ISS1	Missense_Mutation	SNP	pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C,pirsf_Cerberus,pfscan_Cys_knot_C	p.G15A	ENST00000380911.3	37	c.44	CCDS6476.1	9	.	.	.	.	.	.	.	.	.	.	C	14.04	2.417898	0.42918	.	.	ENSG00000147869	ENST00000380911	T	0.42131	0.98	5.92	5.0	0.66597	.	0.091207	0.48286	D	0.000189	T	0.57946	0.2088	M	0.63843	1.955	0.36747	D	0.882545	D	0.64830	0.994	P	0.61132	0.884	T	0.68671	-0.5347	10	0.87932	D	0	-18.7843	13.6855	0.62513	0.1542:0.8457:0.0:0.0	.	15	O95813	CER1_HUMAN	A	15	ENSP00000370297:G15A	ENSP00000370297:G15A	G	-	2	0	CER1	14712627	0.936000	0.31750	0.448000	0.26945	0.071000	0.16799	2.664000	0.46783	1.448000	0.47680	0.655000	0.94253	GGA	CER1	-	pirsf_Cerberus	ENSG00000147869		0.527	CER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CER1	HGNC	protein_coding	OTTHUMT00000055453.1	51	0.00	0	C	NM_005454		14722627	14722627	-1	no_errors	ENST00000380911	ensembl	human	known	69_37n	missense	29	29.27	12	SNP	0.915	G
CERCAM	51148	genome.wustl.edu	37	9	131198082	131198082	+	Silent	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:131198082C>A	ENST00000372838.4	+	12	2084	c.1686C>A	c.(1684-1686)ctC>ctA	p.L562L	CERCAM_ENST00000372842.1_Silent_p.L484L	NM_016174.4	NP_057258.3	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	562					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|leukocyte cell-cell adhesion (GO:0007159)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						GCGGCCGCCTCATCAGCTGGA	0.677																																						dbGAP											0													18.0	19.0	18.0					9																	131198082		2202	4298	6500	-	-	-	SO:0001819	synonymous_variant	0			AB040935	CCDS6901.2, CCDS69675.1	9q34.13	2008-02-05	2007-10-17	2007-10-17	ENSG00000167123	ENSG00000167123			23723	protein-coding gene	gene with protein product	"""glycosyltransferase 25 domain containing 3"""		"""cerebral cell adhesion molecule"""	CEECAM1		10608765	Standard	NM_016174		Approved	GLT25D3, CerCAM	uc004buz.4	Q5T4B2	OTTHUMG00000020747	ENST00000372838.4:c.1686C>A	9.37:g.131198082C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A7MD00|C4AMA2|Q0VDF3|Q2VPJ4|Q4KMP2|Q5T4B1|Q8N107|Q96EZ5|Q9P226|Q9UMW5	Silent	SNP	pfam_Glyco_trans_25	p.L562	ENST00000372838.4	37	c.1686	CCDS6901.2	9																																																																																			CERCAM	-	NULL	ENSG00000167123		0.677	CERCAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CERCAM	HGNC	protein_coding	OTTHUMT00000054435.2	16	0.00	0	C	NM_016174		131198082	131198082	+1	no_errors	ENST00000372838	ensembl	human	known	69_37n	silent	8	46.67	7	SNP	0.682	A
CERK	64781	genome.wustl.edu	37	22	47085891	47085891	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:47085891G>A	ENST00000216264.8	-	12	1651	c.1539C>T	c.(1537-1539)gtC>gtT	p.V513V	CERK_ENST00000471929.1_5'Flank|CERK_ENST00000541677.1_Silent_p.V315V	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	513					ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lipid phosphorylation (GO:0046834)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|magnesium ion binding (GO:0000287)|NAD+ kinase activity (GO:0003951)			cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GCACGCACCTGACCTCGATGG	0.667																																						dbGAP											0													21.0	19.0	20.0					22																	47085891		2203	4297	6500	-	-	-	SO:0001819	synonymous_variant	0			AB079066	CCDS14077.1	22q13.31	2008-06-10			ENSG00000100422	ENSG00000100422			19256	protein-coding gene	gene with protein product		610307				11956206, 11258795	Standard	NM_022766		Approved	hCERK, FLJ23239, dA59H18.3, DKFZp434E0211, FLJ21430, KIAA1646, LK4, dA59H18.2	uc003bia.3	Q8TCT0	OTTHUMG00000150395	ENST00000216264.8:c.1539C>T	22.37:g.47085891G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A0JNT4|A8K611|Q6NX59|Q9BYB3|Q9UGE5	Silent	SNP	pfam_Diacylglycerol_kinase_cat_dom,superfamily_ATP-NAD_kinase_PpnK-typ,smart_Diacylglycerol_kinase_cat_dom	p.V513	ENST00000216264.8	37	c.1539	CCDS14077.1	22																																																																																			CERK	-	NULL	ENSG00000100422		0.667	CERK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CERK	HGNC	protein_coding	OTTHUMT00000317924.2	22	0.00	0	G	NM_022766		47085891	47085891	-1	no_errors	ENST00000216264	ensembl	human	known	69_37n	silent	15	44.44	12	SNP	1.000	A
CERS5	91012	genome.wustl.edu	37	12	50528341	50528341	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:50528341C>A	ENST00000317551.6	-	9	1141	c.1017G>T	c.(1015-1017)ttG>ttT	p.L339F	CERS5_ENST00000422340.2_Missense_Mutation_p.L281F	NM_147190.2	NP_671723.1	Q8N5B7	CERS5_HUMAN	ceramide synthase 5	339	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										TTCCCCTGATCAAGGCTTTCA	0.483																																						dbGAP											0													173.0	163.0	166.0					12																	50528341		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8801.1, CCDS61120.1	12q13.12	2014-09-04	2011-07-08	2011-07-08	ENSG00000139624			"""Homeoboxes / CERS class"""	23749	protein-coding gene	gene with protein product		615335	"""LAG1 longevity assurance homolog 5 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 5"""	LASS5			Standard	NM_147190		Approved	Trh4, MGC45411, FLJ25304	uc001rwd.4	Q8N5B7	OTTHUMG00000169819	ENST00000317551.6:c.1017G>T	12.37:g.50528341C>A	ENSP00000325485:p.Leu339Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DV54	Missense_Mutation	SNP	pfam_TLC-dom,pfam_Homeodomain,superfamily_Homeodomain-like,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom,pfscan_Homeodomain	p.L339F	ENST00000317551.6	37	c.1017	CCDS8801.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.57|13.57	2.278132|2.278132	0.40294|0.40294	.|.	.|.	ENSG00000139624|ENSG00000139624	ENST00000551005;ENST00000317551;ENST00000422340|ENST00000553122	T;T;T|.	0.27402|.	1.67;2.71;2.52|.	5.01|5.01	4.1|4.1	0.47936|0.47936	TRAM/LAG1/CLN8 homology domain (2);|.	0.253382|.	0.36591|.	N|.	0.002520|.	T|.	0.63224|.	0.2493|.	L|L	0.58810|0.58810	1.83|1.83	0.58432|0.58432	D|D	0.999994|0.999994	D;B;B|.	0.52996|.	0.957;0.092;0.314|.	P;B;B|.	0.53549|.	0.729;0.133;0.274|.	T|.	0.62062|.	-0.6933|.	10|.	0.41790|.	T|.	0.15|.	-9.3324|-9.3324	12.1525|12.1525	0.54057|0.54057	0.1345:0.736:0.1295:0.0|0.1345:0.736:0.1295:0.0	.|.	281;339;258|.	B4DV54;Q8N5B7;F8W0U5|.	.;CERS5_HUMAN;.|.	F|L	258;339;281|69	ENSP00000447556:L258F;ENSP00000325485:L339F;ENSP00000389050:L281F|.	ENSP00000325485:L339F|.	L|X	-|-	3|2	2|2	CERS5|CERS5	48814608|48814608	0.019000|0.019000	0.18553|0.18553	1.000000|1.000000	0.80357|0.80357	0.917000|0.917000	0.54804|0.54804	0.225000|0.225000	0.17757|0.17757	1.449000|1.449000	0.47699|0.47699	0.655000|0.655000	0.94253|0.94253	TTG|TGA	CERS5	-	smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom	ENSG00000139624		0.483	CERS5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CERS5	HGNC	protein_coding	OTTHUMT00000406069.3	81	0.00	0	C	NM_147190		50528341	50528341	-1	no_errors	ENST00000317551	ensembl	human	known	69_37n	missense	60	40.59	41	SNP	0.998	A
CETP	1071	genome.wustl.edu	37	16	57003592	57003592	+	Splice_Site	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:57003592G>C	ENST00000566128.1	+	4	510	c.243G>C	c.(241-243)ctG>ctC	p.L81L	CETP_ENST00000569082.1_3'UTR|CETP_ENST00000200676.3_Splice_Site_p.L146L|CETP_ENST00000379780.2_Splice_Site_p.L146L					cholesteryl ester transfer protein, plasma											NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						ACACACAGCTGAGTATGTGTC	0.577																																						dbGAP											0													110.0	92.0	98.0					16																	57003592		2198	4300	6498	-	-	-	SO:0001630	splice_region_variant	0			M30185	CCDS10772.1, CCDS67032.1	16q13	2012-10-02			ENSG00000087237	ENSG00000087237		"""BPI fold containing"""	1869	protein-coding gene	gene with protein product	"""BPI fold containing family F"""	118470				3600759, 2334701	Standard	NM_000078		Approved	BPIFF	uc002eki.2	P11597	OTTHUMG00000133279	ENST00000566128.1:c.244+1G>C	16.37:g.57003592G>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C,pirsf_Cholesteryl_ester_transfer	p.L146	ENST00000566128.1	37	c.438		16																																																																																			CETP	-	pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,pirsf_Cholesteryl_ester_transfer	ENSG00000087237		0.577	CETP-003	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	CETP	HGNC	protein_coding	OTTHUMT00000432305.1	126	0.00	0	G	NM_000078	Silent	57003592	57003592	+1	no_errors	ENST00000200676	ensembl	human	known	69_37n	silent	89	31.30	41	SNP	0.687	C
CFDP1	10428	genome.wustl.edu	37	16	75339017	75339017	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:75339017C>T	ENST00000283882.3	-	6	846	c.714G>A	c.(712-714)atG>atA	p.M238I		NM_006324.2	NP_006315.1	Q9UEE9	CFDP1_HUMAN	craniofacial development protein 1	238	BCNT-C. {ECO:0000255|PROSITE- ProRule:PRU00610}.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|negative regulation of fibroblast apoptotic process (GO:2000270)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)					endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5						CAAGGGTGCTCATTTTCTGCT	0.448																																						dbGAP											0													132.0	130.0	130.0					16																	75339017		2198	4300	6498	-	-	-	SO:0001583	missense	0			AB009285	CCDS10916.1	16q22.2-q22.3	2011-08-12			ENSG00000153774	ENSG00000153774			1873	protein-coding gene	gene with protein product	"""Bucentaur"", ""centromere protein 29"""	608108				9602175, 9006920, 11992732	Standard	NM_006324		Approved	BCNT, p97, CP27, SWC5, Yeti, CENP-29	uc002fdy.3	Q9UEE9	OTTHUMG00000137615	ENST00000283882.3:c.714G>A	16.37:g.75339017C>T	ENSP00000283882:p.Met238Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	O00393|O00404|Q9UEF0|Q9UEF1|Q9UEF8	Missense_Mutation	SNP	pfam_BCNT	p.M238I	ENST00000283882.3	37	c.714	CCDS10916.1	16	.	.	.	.	.	.	.	.	.	.	C	15.04	2.716000	0.48622	.	.	ENSG00000153774	ENST00000283882	T	0.37915	1.17	5.83	5.83	0.93111	.	0.045599	0.85682	D	0.000000	T	0.24812	0.0602	N	0.13371	0.34	0.54753	D	0.999982	B;B	0.17465	0.022;0.01	B;B	0.21151	0.033;0.015	T	0.04216	-1.0968	10	0.38643	T	0.18	-10.0622	14.3263	0.66523	0.0:0.8517:0.1483:0.0	.	238;238	B2R9W9;Q9UEE9	.;CFDP1_HUMAN	I	238	ENSP00000283882:M238I	ENSP00000283882:M238I	M	-	3	0	CFDP1	73896518	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.904000	0.69886	2.755000	0.94549	0.650000	0.86243	ATG	CFDP1	-	pfam_BCNT	ENSG00000153774		0.448	CFDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFDP1	HGNC	protein_coding	OTTHUMT00000269031.2	171	0.00	0	C	NM_006324		75339017	75339017	-1	no_errors	ENST00000283882	ensembl	human	known	69_37n	missense	119	41.09	83	SNP	1.000	T
CFHR5	81494	genome.wustl.edu	37	1	196971746	196971746	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:196971746G>C	ENST00000256785.4	+	8	1391	c.1282G>C	c.(1282-1284)Gaa>Caa	p.E428Q	CFHR5_ENST00000367414.5_Missense_Mutation_p.E452Q			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	428	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						AGAAGCAAAAGAAATTGTATG	0.348																																						dbGAP											0													84.0	89.0	87.0					1																	196971746		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"""Complement system"""	24668	protein-coding gene	gene with protein product	"""factor H related protein 5"""	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.1282G>C	1.37:g.196971746G>C	ENSP00000256785:p.Glu428Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2NKK2	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.E452Q	ENST00000256785.4	37	c.1354	CCDS1387.1	1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.822646	0.50739	.	.	ENSG00000134389	ENST00000367414;ENST00000256785	T;T	0.65364	-0.15;-0.15	3.76	3.76	0.43208	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.76863	0.4047	M	0.80616	2.505	0.09310	N	1	D	0.67145	0.996	D	0.71184	0.972	T	0.65376	-0.6183	9	0.30078	T	0.28	.	11.4257	0.50009	0.0:0.0:1.0:0.0	.	428	Q9BXR6	FHR5_HUMAN	Q	452;428	ENSP00000356384:E452Q;ENSP00000256785:E428Q	ENSP00000256785:E428Q	E	+	1	0	CFHR5	195238369	0.988000	0.35896	0.047000	0.18901	0.004000	0.04260	2.202000	0.42743	1.805000	0.52779	0.467000	0.42956	GAA	CFHR5	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000134389		0.348	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFHR5	HGNC	protein_coding	OTTHUMT00000088814.2	93	0.00	0	G	NM_030787		196971746	196971746	+1	no_errors	ENST00000367414	ensembl	human	known	69_37n	missense	120	17.24	25	SNP	0.246	C
CFTR	1080	genome.wustl.edu	37	7	117267675	117267675	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:117267675G>C	ENST00000003084.6	+	22	3700	c.3568G>C	c.(3568-3570)Gtt>Ctt	p.V1190L	CFTR_ENST00000454343.1_Missense_Mutation_p.V1129L|AC000111.6_ENST00000456270.1_RNA	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1190					cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	ACTCTCGAAAGTTATGATTAT	0.438									Cystic Fibrosis																													dbGAP											0													89.0	78.0	82.0					7																	117267675		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	CF	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.3568G>C	7.37:g.117267675G>C	ENSP00000003084:p.Val1190Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	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,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel	p.V1190L	ENST00000003084.6	37	c.3568	CCDS5773.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.186|6.186	0.402500|0.402500	0.11696|0.11696	.|.	.|.	ENSG00000001626|ENSG00000001626	ENST00000468795|ENST00000003084;ENST00000454343;ENST00000426809	D|D;D;D	0.93547|0.92446	-3.24|-2.97;-2.78;-3.04	5.86|5.86	3.14|3.14	0.36123|0.36123	.|.	.|0.210963	.|0.49305	.|N	.|0.000158	D|D	0.85915|0.85915	0.5808|0.5808	L|L	0.28192|0.28192	0.835|0.835	0.19945|0.19945	N|N	0.999942|0.999942	.|B	.|0.29552	.|0.248	.|B	.|0.32980	.|0.156	T|T	0.76473|0.76473	-0.2946|-0.2946	7|10	0.44086|0.46703	T|T	0.13|0.11	-11.1988|-11.1988	9.6454|9.6454	0.39863|0.39863	0.1265:0.1177:0.7559:0.0|0.1265:0.1177:0.7559:0.0	.|.	.|1190	.|P13569	.|CFTR_HUMAN	N|L	131|1190;1129;1160	ENSP00000419254:K131N|ENSP00000003084:V1190L;ENSP00000403677:V1129L;ENSP00000389119:V1160L	ENSP00000419254:K131N|ENSP00000003084:V1190L	K|V	+|+	3|1	2|0	CFTR|CFTR	117054911|117054911	1.000000|1.000000	0.71417|0.71417	0.002000|0.002000	0.10522|0.10522	0.000000|0.000000	0.00434|0.00434	3.936000|3.936000	0.56568|0.56568	0.508000|0.508000	0.28173|0.28173	-0.758000|-0.758000	0.03466|0.03466	AAG|GTT	CFTR	-	tigrfam_cAMP_cl_channel	ENSG00000001626		0.438	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFTR	HGNC	protein_coding	OTTHUMT00000059397.3	66	0.00	0	G	NM_000492		117267675	117267675	+1	no_errors	ENST00000003084	ensembl	human	known	69_37n	missense	54	25.00	18	SNP	0.309	C
CGB1	114335	genome.wustl.edu	37	19	49538904	49538904	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:49538904G>T	ENST00000301407.7	-	3	535	c.431C>A	c.(430-432)cCc>cAc	p.P144H	CGB1_ENST00000391869.3_Missense_Mutation_p.P144H|CTB-60B18.6_ENST00000591656.1_Intron	NM_033377.1	NP_203695.2	A6NKQ9	CGB1_HUMAN	chorionic gonadotropin, beta polypeptide 1	176						extracellular region (GO:0005576)				liver(1)|lung(1)	2		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		TGGAAGGCTGGGGGGAGGGGC	0.632																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			S80935	CCDS12751.2	19q13.32	2012-10-03				ENSG00000267631			16721	protein-coding gene	gene with protein product		608823				6194155	Standard	NM_033377		Approved		uc002plx.3	A6NKQ9	OTTHUMG00000150186	ENST00000301407.7:c.431C>A	19.37:g.49538904G>T	ENSP00000301407:p.Pro144His	Somatic		WXS	Illumina GAIIx	Phase_IV	A4FVC8|A8MUK6	Missense_Mutation	SNP	pfam_Cys_knot,smart_Gonadotropin_bsu	p.P144H	ENST00000301407.7	37	c.431	CCDS12751.2	19	.	.	.	.	.	.	.	.	.	.	G	6.774	0.511789	0.12944	.	.	ENSG00000213030	ENST00000301407;ENST00000391869	T;T	0.48522	0.81;0.82	1.46	-2.92	0.05615	.	.	.	.	.	T	0.32346	0.0826	.	.	.	0.09310	N	1	D	0.61697	0.99	B	0.42030	0.373	T	0.21348	-1.0248	8	0.72032	D	0.01	.	2.7201	0.05198	0.4326:0.2587:0.3087:0.0	.	144	A6NKQ9-2	.	H	144	ENSP00000301407:P144H;ENSP00000375742:P144H	ENSP00000301407:P144H	P	-	2	0	CGB1	54230716	0.000000	0.05858	0.000000	0.03702	0.097000	0.18754	-0.360000	0.07622	-0.826000	0.04284	0.194000	0.17425	CCC	CGB1	-	NULL	ENSG00000267631		0.632	CGB1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	CGB1	HGNC	protein_coding	OTTHUMT00000316746.4	124	0.00	0	G	NM_033377		49538904	49538904	-1	no_errors	ENST00000301407	ensembl	human	known	69_37n	missense	69	27.37	26	SNP	0.000	T
CGN	57530	genome.wustl.edu	37	1	151509326	151509326	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:151509326G>C	ENST00000271636.7	+	20	3560	c.3427G>C	c.(3427-3429)Gaa>Caa	p.E1143Q		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	1137					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)			TGAGGTCAATGAACAGCTCCA	0.562																																						dbGAP											0													131.0	138.0	136.0					1																	151509326		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.3427G>C	1.37:g.151509326G>C	ENSP00000271636:p.Glu1143Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8L3|A7MD22|Q5T386|Q9NR25	Missense_Mutation	SNP	pfam_Myosin_tail	p.E1143Q	ENST00000271636.7	37	c.3427	CCDS999.1	1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.880184	0.91740	.	.	ENSG00000143375	ENST00000271636	T	0.80304	-1.36	5.41	5.41	0.78517	Myosin tail (1);	0.257811	0.44688	D	0.000435	D	0.82834	0.5123	M	0.62209	1.925	0.80722	D	1	P	0.45011	0.848	P	0.52909	0.713	D	0.84800	0.0784	10	0.72032	D	0.01	-16.9789	17.7652	0.88475	0.0:0.0:1.0:0.0	.	1137	Q9P2M7	CING_HUMAN	Q	1143	ENSP00000271636:E1143Q	ENSP00000271636:E1143Q	E	+	1	0	CGN	149775950	1.000000	0.71417	0.982000	0.44146	0.996000	0.88848	9.654000	0.98509	2.541000	0.85698	0.655000	0.94253	GAA	CGN	-	pfam_Myosin_tail	ENSG00000143375		0.562	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CGN	HGNC	protein_coding	OTTHUMT00000034900.3	119	0.00	0	G	NM_020770		151509326	151509326	+1	no_errors	ENST00000271636	ensembl	human	known	69_37n	missense	108	18.18	24	SNP	1.000	C
CGNL1	84952	genome.wustl.edu	37	15	57730708	57730708	+	Missense_Mutation	SNP	G	G	C	rs143189146		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:57730708G>C	ENST00000281282.5	+	2	589	c.511G>C	c.(511-513)Gag>Cag	p.E171Q		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	171	Head.					myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		CCAGCCTTCTGAGAGTAATTG	0.448																																						dbGAP											0													74.0	77.0	76.0					15																	57730708		2192	4292	6484	-	-	-	SO:0001583	missense	0			AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.511G>C	15.37:g.57730708G>C	ENSP00000281282:p.Glu171Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Missense_Mutation	SNP	pfam_Myosin_tail,prints_Tropomyosin	p.E171Q	ENST00000281282.5	37	c.511	CCDS10161.1	15	.	.	.	.	.	.	.	.	.	.	G	6.483	0.457321	0.12342	.	.	ENSG00000128849	ENST00000281282	T	0.06449	3.3	4.98	4.05	0.47172	.	0.293517	0.24396	N	0.038881	T	0.07999	0.0200	L	0.60455	1.87	0.09310	N	1	B	0.16396	0.017	B	0.12837	0.008	T	0.18366	-1.0339	10	0.52906	T	0.07	-16.5777	8.3285	0.32171	0.0818:0.1579:0.7603:0.0	.	171	Q0VF96	CGNL1_HUMAN	Q	171	ENSP00000281282:E171Q	ENSP00000281282:E171Q	E	+	1	0	CGNL1	55518000	0.011000	0.17503	0.012000	0.15200	0.598000	0.36846	1.064000	0.30579	1.281000	0.44480	0.650000	0.86243	GAG	CGNL1	-	NULL	ENSG00000128849		0.448	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CGNL1	HGNC	protein_coding	OTTHUMT00000255482.2	36	0.00	0	G	NM_032866		57730708	57730708	+1	no_errors	ENST00000281282	ensembl	human	known	69_37n	missense	19	34.48	10	SNP	0.042	C
CGREF1	10669	genome.wustl.edu	37	2	27325082	27325082	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:27325082G>C	ENST00000260595.5	-	5	517	c.225C>G	c.(223-225)ctC>ctG	p.L75L	CGREF1_ENST00000402394.1_Silent_p.L75L|CGREF1_ENST00000402550.1_Silent_p.L75L|CGREF1_ENST00000452318.2_5'UTR|CGREF1_ENST00000405600.1_Silent_p.L75L|CGREF1_ENST00000312734.4_Silent_p.L75L|CGREF1_ENST00000404694.3_Silent_p.L197L			Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1	75	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAAAGAGGTAGAGGAGAACTA	0.577																																						dbGAP											0													40.0	41.0	41.0					2																	27325082		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC034764	CCDS33162.1, CCDS33162.2, CCDS54339.1	2p23.3	2013-01-10			ENSG00000138028	ENSG00000138028		"""EF-hand domain containing"""	16962	protein-coding gene	gene with protein product		606137				8968090	Standard	NM_006569		Approved	CGR11	uc002riq.3	Q99674	OTTHUMG00000152009	ENST00000260595.5:c.225C>G	2.37:g.27325082G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHV7|B4DXY8|B5MCB7|B5MCC9|B5MCP5|E7EU99|Q8N4B7	Missense_Mutation	SNP	NULL	p.L52V	ENST00000260595.5	37	c.154		2																																																																																			CGREF1	-	NULL	ENSG00000138028		0.577	CGREF1-201	KNOWN	basic	protein_coding	CGREF1	HGNC	protein_coding		46	0.00	0	G	NM_006569		27325082	27325082	-1	no_errors	ENST00000440612	ensembl	human	known	69_37n	missense	50	20.63	13	SNP	0.993	C
CHAMP1	283489	genome.wustl.edu	37	13	115090327	115090327	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr13:115090327C>T	ENST00000361283.1	+	3	1319	c.1010C>T	c.(1009-1011)gCt>gTt	p.A337V		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	CHAP1_HUMAN	chromosome alignment maintaining phosphoprotein 1	337	Mediates interaction with MAD2L2.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|protein localization to kinetochore (GO:0034501)|protein localization to microtubule (GO:0035372)|sister chromatid biorientation (GO:0031134)	condensed chromosome (GO:0000793)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)										TGGAAGCCAGCTAAACCTGCT	0.547																																						dbGAP											0													120.0	112.0	115.0					13																	115090327		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074894	CCDS9545.1	13q34	2013-01-07	2011-10-07	2011-10-07	ENSG00000198824	ENSG00000198824		"""Zinc fingers, C2H2-type"""	20311	protein-coding gene	gene with protein product	"""chromosome alignment-maintaining phosphoprotein"""		"""chromosome 13 open reading frame 8"", ""zinc finger protein 828"""	C13orf8, ZNF828		21063390	Standard	NM_032436		Approved	CAMP, CHAMP	uc010ahb.3	Q96JM3	OTTHUMG00000017404	ENST00000361283.1:c.1010C>T	13.37:g.115090327C>T	ENSP00000354730:p.Ala337Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KU06|Q6P181|Q8NC88|Q9BST0	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A337V	ENST00000361283.1	37	c.1010	CCDS9545.1	13	.	.	.	.	.	.	.	.	.	.	C	11.64	1.698545	0.30142	.	.	ENSG00000198824	ENST00000361283	T	0.01215	5.16	5.92	5.92	0.95590	.	0.419339	0.21485	N	0.073779	T	0.01320	0.0043	L	0.29908	0.895	0.24446	N	0.994506	B	0.31548	0.328	B	0.27380	0.079	T	0.56721	-0.7932	9	.	.	.	-8.1554	16.0634	0.80856	0.0:0.8298:0.1701:0.0	.	337	Q96JM3	ZN828_HUMAN	V	337	ENSP00000354730:A337V	.	A	+	2	0	ZNF828	114108429	0.925000	0.31364	1.000000	0.80357	0.949000	0.60115	2.638000	0.46562	2.805000	0.96524	0.655000	0.94253	GCT	CHAMP1	-	NULL	ENSG00000198824		0.547	CHAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHAMP1	HGNC	protein_coding	OTTHUMT00000045977.2	95	0.00	0	C	NM_032436		115090327	115090327	+1	no_errors	ENST00000361283	ensembl	human	known	69_37n	missense	48	47.83	44	SNP	0.938	T
CHAT	1103	genome.wustl.edu	37	10	50835719	50835719	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:50835719G>C	ENST00000337653.2	+	7	1152	c.999G>C	c.(997-999)ttG>ttC	p.L333F	CHAT_ENST00000395559.2_Missense_Mutation_p.L215F|CHAT_ENST00000351556.3_Missense_Mutation_p.L215F|CHAT_ENST00000339797.1_Missense_Mutation_p.L215F|CHAT_ENST00000455728.2_Missense_Mutation_p.L215F|CHAT_ENST00000395562.2_Missense_Mutation_p.L251F	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	333					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	TCACTCAGTTGAGAAAGATAG	0.522																																						dbGAP											0													194.0	163.0	173.0					10																	50835719		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"""choline acetyltransferase"""			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.999G>C	10.37:g.50835719G>C	ENSP00000337103:p.Leu333Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Missense_Mutation	SNP	pfam_Carn_acyl_trans	p.L333F	ENST00000337653.2	37	c.999	CCDS7232.1	10	.	.	.	.	.	.	.	.	.	.	G	21.2	4.120361	0.77323	.	.	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562;ENST00000455728	D;D;D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09;-2.09;-2.09	5.65	3.78	0.43462	.	0.070528	0.64402	D	0.000019	D	0.88047	0.6332	L	0.45744	1.44	0.49915	D	0.999835	P;D	0.65815	0.544;0.995	B;P	0.61132	0.122;0.884	D	0.86332	0.1699	10	0.46703	T	0.11	-13.6408	8.943	0.35742	0.1921:0.0:0.8079:0.0	.	215;333	F8W8I2;P28329	.;CLAT_HUMAN	F	215;215;215;333;251;215	ENSP00000343486:L215F;ENSP00000345878:L215F;ENSP00000378926:L215F;ENSP00000337103:L333F;ENSP00000378929:L251F;ENSP00000390521:L215F	ENSP00000337103:L333F	L	+	3	2	CHAT	50505725	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.756000	0.55205	2.656000	0.90262	0.591000	0.81541	TTG	CHAT	-	pfam_Carn_acyl_trans	ENSG00000070748		0.522	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHAT	HGNC	protein_coding	OTTHUMT00000047997.1	60	0.00	0	G	NM_020549		50835719	50835719	+1	no_errors	ENST00000337653	ensembl	human	known	69_37n	missense	42	35.38	23	SNP	1.000	C
CHCHD2	51142	genome.wustl.edu	37	7	56171948	56171948	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:56171948C>T	ENST00000395422.3	-	2	433	c.271G>A	c.(271-273)Gag>Aag	p.E91K		NM_016139.2	NP_057223.1	Q9Y6H1	CHCH2_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 2	91						mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|lung(3)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTCGCAGGCTCAGCATTACTT	0.542																																						dbGAP											0													75.0	72.0	73.0					7																	56171948		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF078845	CCDS5526.1	7p11.2	2014-07-14	2004-01-19	2004-01-21	ENSG00000106153	ENSG00000106153		"""Coiled-coil-helix-coiled-coil-helix domain containing"""	21645	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 17"""	C7orf17		23303788	Standard	NM_016139		Approved		uc003tsa.3	Q9Y6H1	OTTHUMG00000129429	ENST00000395422.3:c.271G>A	7.37:g.56171948C>T	ENSP00000378812:p.Glu91Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q498C3|Q6NZ50	Missense_Mutation	SNP	pfam_CHCH	p.E91K	ENST00000395422.3	37	c.271	CCDS5526.1	7	.	.	.	.	.	.	.	.	.	.	C	20.3	3.974949	0.74360	.	.	ENSG00000106153	ENST00000395422	T	0.48522	0.81	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.73179	0.3554	M	0.86343	2.81	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.74509	-0.3642	10	0.39692	T	0.17	.	18.3066	0.90184	0.0:1.0:0.0:0.0	.	91	Q9Y6H1	CHCH2_HUMAN	K	91	ENSP00000378812:E91K	ENSP00000378812:E91K	E	-	1	0	CHCHD2	56139442	1.000000	0.71417	0.993000	0.49108	0.021000	0.10359	7.434000	0.80377	2.575000	0.86900	0.655000	0.94253	GAG	CHCHD2	-	NULL	ENSG00000106153		0.542	CHCHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHCHD2	HGNC	protein_coding	OTTHUMT00000251589.1	27	0.00	0	C	NM_016139		56171948	56171948	-1	no_errors	ENST00000395422	ensembl	human	known	69_37n	missense	27	48.08	25	SNP	1.000	T
CHD1	1105	genome.wustl.edu	37	5	98238624	98238624	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:98238624G>C	ENST00000284049.3	-	4	566	c.417C>G	c.(415-417)gtC>gtG	p.V139V		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	139					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TTTTCCTTTTGACCTCACTTG	0.299																																						dbGAP											0													88.0	82.0	84.0					5																	98238624		2203	4293	6496	-	-	-	SO:0001819	synonymous_variant	0			AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.417C>G	5.37:g.98238624G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RZ3	Silent	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.V139	ENST00000284049.3	37	c.417	CCDS34204.1	5																																																																																			CHD1	-	NULL	ENSG00000153922		0.299	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD1	HGNC	protein_coding	OTTHUMT00000370295.1	156	0.00	0	G	NM_001270		98238624	98238624	-1	no_errors	ENST00000284049	ensembl	human	known	69_37n	silent	99	11.61	13	SNP	0.372	C
CHD1L	9557	genome.wustl.edu	37	1	146758048	146758048	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:146758048G>C	ENST00000369258.4	+	18	2112	c.2092G>C	c.(2092-2094)Gag>Cag	p.E698Q	CHD1L_ENST00000361293.5_Missense_Mutation_p.E417Q|CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000431239.1_Missense_Mutation_p.E604Q|CHD1L_ENST00000369259.3_Missense_Mutation_p.E494Q	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	698					ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|nucleotide binding (GO:0000166)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					AGAGGACCTTGAGAATGGGGA	0.547																																						dbGAP											0													128.0	109.0	115.0					1																	146758048		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF054177	CCDS927.1, CCDS58021.1, CCDS58022.1, CCDS72882.1	1q21.1	2008-02-05			ENSG00000131778	ENSG00000131778			1916	protein-coding gene	gene with protein product		613039				9653160	Standard	NM_004284		Approved	ALC1	uc001epm.5	Q86WJ1	OTTHUMG00000150271	ENST00000369258.4:c.2092G>C	1.37:g.146758048G>C	ENSP00000358262:p.Glu698Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A5YM64|B4DDE1|B5MDZ7|Q53EZ3|Q5VXX7|Q6DD94|Q6PK83|Q86XH3|Q96HF7|Q96SP3|Q9BVJ1|Q9NVV8	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_A1pp,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E698Q	ENST00000369258.4	37	c.2092	CCDS927.1	1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.073907	0.76415	.	.	ENSG00000131778	ENST00000431239;ENST00000369259;ENST00000369258;ENST00000361293	D;T;D;D	0.89552	-2.53;-1.38;-2.41;-1.53	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.88819	0.6540	L	0.49640	1.575	0.47621	D	0.999479	D;P;P	0.71674	0.998;0.95;0.811	P;P;B	0.55615	0.78;0.65;0.403	D	0.87733	0.2580	10	0.41790	T	0.15	.	15.8855	0.79244	0.0:0.0:1.0:0.0	.	604;494;698	Q86WJ1-2;Q86WJ1-3;Q86WJ1	.;.;CHD1L_HUMAN	Q	604;494;698;417	ENSP00000389031:E604Q;ENSP00000358263:E494Q;ENSP00000358262:E698Q;ENSP00000355100:E417Q	ENSP00000355100:E417Q	E	+	1	0	CHD1L	145224672	1.000000	0.71417	0.912000	0.35992	0.960000	0.62799	6.358000	0.73055	2.825000	0.97269	0.655000	0.94253	GAG	CHD1L	-	NULL	ENSG00000131778		0.547	CHD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD1L	HGNC	protein_coding	OTTHUMT00000040377.1	48	0.00	0	G	NM_004284		146758048	146758048	+1	no_errors	ENST00000369258	ensembl	human	known	69_37n	missense	53	19.70	13	SNP	0.998	C
CHD2	1106	genome.wustl.edu	37	15	93552539	93552539	+	Silent	SNP	C	C	T	rs143876394		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:93552539C>T	ENST00000394196.4	+	35	5646	c.4578C>T	c.(4576-4578)atC>atT	p.I1526I	CHD2_ENST00000557381.1_Silent_p.I1526I	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1526					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AGGAGCACATCAAACTCTGGA	0.493																																						dbGAP											0													71.0	62.0	65.0					15																	93552539		2197	4298	6495	-	-	-	SO:0001819	synonymous_variant	0			AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.4578C>T	15.37:g.93552539C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	C6G482|Q96IP5	Silent	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.I1526	ENST00000394196.4	37	c.4578	CCDS10374.2	15																																																																																			CHD2	-	NULL	ENSG00000173575		0.493	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	CHD2	HGNC	protein_coding	OTTHUMT00000313528.3	38	0.00	0	C	NM_001271		93552539	93552539	+1	no_errors	ENST00000557381	ensembl	human	putative	69_37n	silent	29	25.64	10	SNP	1.000	T
CHD2	1106	genome.wustl.edu	37	15	93567777	93567777	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:93567777C>G	ENST00000394196.4	+	39	6397	c.5329C>G	c.(5329-5331)Cta>Gta	p.L1777V		NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1777					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TAAACAGCCTCTACCCCCATT	0.537																																						dbGAP											0													94.0	99.0	97.0					15																	93567777		1921	4132	6053	-	-	-	SO:0001583	missense	0			AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.5329C>G	15.37:g.93567777C>G	ENSP00000377747:p.Leu1777Val	Somatic		WXS	Illumina GAIIx	Phase_IV	C6G482|Q96IP5	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.L1777V	ENST00000394196.4	37	c.5329	CCDS10374.2	15	.	.	.	.	.	.	.	.	.	.	C	7.677	0.688279	0.14973	.	.	ENSG00000173575	ENST00000394196	D	0.89485	-2.52	5.64	4.7	0.59300	.	.	.	.	.	T	0.72203	0.3431	N	0.03608	-0.345	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.64753	-0.6333	9	0.22706	T	0.39	-4.1914	6.6517	0.22965	0.1533:0.7037:0.0:0.143	.	1777	O14647	CHD2_HUMAN	V	1777	ENSP00000377747:L1777V	ENSP00000377747:L1777V	L	+	1	2	CHD2	91368781	0.715000	0.27946	1.000000	0.80357	0.960000	0.62799	2.173000	0.42472	1.456000	0.47831	0.563000	0.77884	CTA	CHD2	-	NULL	ENSG00000173575		0.537	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	CHD2	HGNC	protein_coding	OTTHUMT00000313528.3	117	0.00	0	C	NM_001271		93567777	93567777	+1	no_errors	ENST00000394196	ensembl	human	novel	69_37n	missense	84	28.21	33	SNP	0.994	G
CHD3	1107	genome.wustl.edu	37	17	7801884	7801884	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:7801884G>A	ENST00000330494.7	+	13	2272	c.2122G>A	c.(2122-2124)Gat>Aat	p.D708N	CHD3_ENST00000358181.4_Missense_Mutation_p.D708N|CHD3_ENST00000380358.4_Missense_Mutation_p.D767N	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	708					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)				GCTACAGGGTGATGGGCCTCC	0.483																																						dbGAP											0													91.0	84.0	86.0					17																	7801884		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.2122G>A	17.37:g.7801884G>A	ENSP00000332628:p.Asp708Asn	Somatic		WXS	Illumina GAIIx	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.D708N	ENST00000330494.7	37	c.2122	CCDS32554.1	17	.	.	.	.	.	.	.	.	.	.	G	17.33	3.362630	0.61403	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	D;D;D	0.90504	-2.68;-2.6;-2.62	4.85	4.85	0.62838	.	0.000000	0.47852	D	0.000217	D	0.84813	0.5555	L	0.27053	0.805	0.50313	D	0.999861	B;P;P	0.34522	0.447;0.455;0.455	B;B;B	0.33254	0.16;0.077;0.111	D	0.84444	0.0584	10	0.41790	T	0.15	-23.4966	16.2648	0.82571	0.0:0.0:1.0:0.0	.	708;708;767	Q12873-2;Q12873;E9PG89	.;CHD3_HUMAN;.	N	767;708;708	ENSP00000369716:D767N;ENSP00000350907:D708N;ENSP00000332628:D708N	ENSP00000332628:D708N	D	+	1	0	CHD3	7742609	1.000000	0.71417	0.989000	0.46669	0.996000	0.88848	5.592000	0.67543	2.687000	0.91594	0.563000	0.77884	GAT	CHD3	-	NULL	ENSG00000170004		0.483	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD3	HGNC	protein_coding	OTTHUMT00000318050.1	87	0.00	0	G	NM_001005273		7801884	7801884	+1	no_errors	ENST00000330494	ensembl	human	known	69_37n	missense	77	18.95	18	SNP	1.000	A
CHD4	1108	genome.wustl.edu	37	12	6692457	6692457	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:6692457C>G	ENST00000357008.2	-	26	4130	c.3967G>C	c.(3967-3969)Gag>Cag	p.E1323Q	CHD4_ENST00000540960.1_5'UTR|RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000544040.1_Missense_Mutation_p.E1316Q|CHD4_ENST00000544484.1_Missense_Mutation_p.E1320Q|SCARNA11_ENST00000516089.1_RNA|CHD4_ENST00000309577.6_Missense_Mutation_p.E1323Q	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1323					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						TGCTGCTGCTCATAATGGTGC	0.498																																					Colon(32;586 792 4568 16848 45314)	dbGAP											0													224.0	217.0	219.0					12																	6692457		2203	4300	6503	-	-	-	SO:0001583	missense	0			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.3967G>C	12.37:g.6692457C>G	ENSP00000349508:p.Glu1323Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IXZ5	Missense_Mutation	SNP	pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,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,superfamily_Homeodomain-like,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.E1323Q	ENST00000357008.2	37	c.3967	CCDS8552.1	12	.	.	.	.	.	.	.	.	.	.	C	20.8	4.051054	0.75960	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.91843	-2.88;-2.92;-2.88;-2.92	5.96	5.96	0.96718	Domain of unknown function DUF1087 (1);	0.000000	0.85682	D	0.000000	D	0.95201	0.8444	L	0.51422	1.61	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.998	D;D;D	0.91635	0.997;0.999;0.994	D	0.94791	0.7962	10	0.62326	D	0.03	-12.1314	20.422	0.99049	0.0:1.0:0.0:0.0	.	1323;1323;1316	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	Q	1320;1316;1323;1323;1297	ENSP00000440392:E1320Q;ENSP00000440542:E1316Q;ENSP00000312419:E1323Q;ENSP00000349508:E1323Q	ENSP00000312419:E1323Q	E	-	1	0	CHD4	6562718	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.792000	0.85828	2.832000	0.97577	0.655000	0.94253	GAG	CHD4	-	pfam_DUF1087	ENSG00000111642		0.498	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD4	HGNC	protein_coding		159	0.00	0	C	NM_001273		6692457	6692457	-1	no_errors	ENST00000309577	ensembl	human	known	69_37n	missense	77	25.24	26	SNP	1.000	G
CHD5	26038	genome.wustl.edu	37	1	6211099	6211099	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:6211099C>A	ENST00000262450.3	-	7	1086	c.987G>T	c.(985-987)aaG>aaT	p.K329N	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)				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)		TACTCCTCTTCTTCTTGCGCC	0.617																																						dbGAP											0													97.0	92.0	94.0					1																	6211099		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.987G>T	1.37:g.6211099C>A	ENSP00000262450:p.Lys329Asn	Somatic		WXS	Illumina GAIIx	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.K329N	ENST00000262450.3	37	c.987	CCDS57.1	1	.	.	.	.	.	.	.	.	.	.	c	15.45	2.837226	0.50951	.	.	ENSG00000116254	ENST00000262450	D	0.85171	-1.95	4.0	1.62	0.23740	Zinc finger, FYVE/PHD-type (1);	0.000000	0.64402	U	0.000001	D	0.85431	0.5695	L	0.52573	1.65	0.80722	D	1	D	0.69078	0.997	P	0.60682	0.878	T	0.81004	-0.1129	10	0.25751	T	0.34	-27.7732	8.3121	0.32077	0.0:0.6845:0.0:0.3155	.	329	Q8TDI0	CHD5_HUMAN	N	329	ENSP00000262450:K329N	ENSP00000262450:K329N	K	-	3	2	CHD5	6133686	1.000000	0.71417	0.998000	0.56505	0.833000	0.47200	1.255000	0.32909	0.829000	0.34733	0.457000	0.33378	AAG	CHD5	-	superfamily_Znf_FYVE_PHD	ENSG00000116254		0.617	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD5	HGNC	protein_coding	OTTHUMT00000002823.2	66	0.00	0	C	NM_015557		6211099	6211099	-1	no_errors	ENST00000262450	ensembl	human	known	69_37n	missense	44	31.25	20	SNP	1.000	A
CHD6	84181	genome.wustl.edu	37	20	40122518	40122518	+	Missense_Mutation	SNP	T	T	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:40122518T>C	ENST00000373233.3	-	9	1336	c.1159A>G	c.(1159-1161)Aag>Gag	p.K387E	CHD6_ENST00000309279.7_Missense_Mutation_p.K387E	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	387	Chromo 2. {ECO:0000255|PROSITE- ProRule:PRU00053}.|Required for DNA-dependent ATPase activity.				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)				TCTGCATCCTTGGTGTGGGCC	0.448																																						dbGAP											0													106.0	81.0	90.0					20																	40122518		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.1159A>G	20.37:g.40122518T>C	ENSP00000362330:p.Lys387Glu	Somatic		WXS	Illumina GAIIx	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.K387E	ENST00000373233.3	37	c.1159	CCDS13317.1	20	.	.	.	.	.	.	.	.	.	.	T	13.22	2.172691	0.38413	.	.	ENSG00000124177	ENST00000373233;ENST00000309279	T;T	0.72394	-0.65;-0.65	5.55	5.55	0.83447	Chromo domain (1);Chromo domain/shadow (2);	0.000000	0.64402	D	0.000012	T	0.45316	0.1336	N	0.02412	-0.56	0.53688	D	0.999971	B	0.18013	0.025	B	0.24701	0.055	T	0.47509	-0.9112	10	0.08381	T	0.77	-24.1488	14.8706	0.70453	0.0:0.0:0.0:1.0	.	387	Q8TD26	CHD6_HUMAN	E	387	ENSP00000362330:K387E;ENSP00000308684:K387E	ENSP00000308684:K387E	K	-	1	0	CHD6	39555932	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.646000	0.83445	2.128000	0.65567	0.459000	0.35465	AAG	CHD6	-	pfam_Chromo_domain,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow	ENSG00000124177		0.448	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD6	HGNC	protein_coding	OTTHUMT00000079270.1	54	0.00	0	T			40122518	40122518	-1	no_errors	ENST00000373233	ensembl	human	known	69_37n	missense	62	12.68	9	SNP	1.000	C
CHD7	55636	genome.wustl.edu	37	8	61765813	61765813	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:61765813G>A	ENST00000423902.2	+	31	7008	c.6529G>A	c.(6529-6531)Gag>Aag	p.E2177K	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2177	Glu-rich.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.E2177K(1)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CAAAGTGGAGGAGCCTGAAAA	0.517																																						dbGAP											1	Substitution - Missense(1)	skin(1)											25.0	27.0	26.0					8																	61765813		1902	4118	6020	-	-	-	SO:0001583	missense	0			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.6529G>A	8.37:g.61765813G>A	ENSP00000392028:p.Glu2177Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,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.E2177K	ENST00000423902.2	37	c.6529	CCDS47865.1	8	.	.	.	.	.	.	.	.	.	.	G	12.01	1.810208	0.32053	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	T	0.71817	-0.6	5.3	5.3	0.74995	.	0.141899	0.47093	D	0.000241	T	0.50446	0.1616	N	0.12182	0.205	0.36084	D	0.842978	B	0.12630	0.006	B	0.09377	0.004	T	0.54016	-0.8356	10	0.18710	T	0.47	-12.156	12.3187	0.54973	0.0773:0.0:0.9227:0.0	.	2177	Q9P2D1	CHD7_HUMAN	K	2177	ENSP00000392028:E2177K	ENSP00000307304:E2177K	E	+	1	0	CHD7	61928367	1.000000	0.71417	0.947000	0.38551	0.669000	0.39330	4.455000	0.60075	2.479000	0.83701	0.655000	0.94253	GAG	CHD7	-	NULL	ENSG00000171316		0.517	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD7	HGNC	protein_coding	OTTHUMT00000383468.2	33	0.00	0	G	XM_098762		61765813	61765813	+1	no_errors	ENST00000307121	ensembl	human	known	69_37n	missense	52	11.86	7	SNP	0.997	A
CHD8	57680	genome.wustl.edu	37	14	21868196	21868196	+	Silent	SNP	C	C	T	rs372730716		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:21868196C>T	ENST00000557364.1	-	25	5024	c.4761G>A	c.(4759-4761)ctG>ctA	p.L1587L	CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000430710.3_Silent_p.L1308L|CHD8_ENST00000399982.2_Silent_p.L1587L|SNORD8_ENST00000363915.1_RNA			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1587					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CCTCCTGCCTCAGGTAGTATA	0.438																																						dbGAP											0													216.0	209.0	211.0					14																	21868196		1897	4121	6018	-	-	-	SO:0001819	synonymous_variant	0			AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.4761G>A	14.37:g.21868196C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E821K	ENST00000557364.1	37	c.2461	CCDS53885.1	14	.	.	.	.	.	.	.	.	.	.	C	5.544	0.285224	0.10513	.	.	ENSG00000100888	ENST00000555935	.	.	.	5.39	1.3	0.21679	.	.	.	.	.	T	0.51568	0.1682	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35649	-0.9780	4	.	.	.	-6.4553	5.3126	0.15839	0.0:0.4943:0.1385:0.3672	.	.	.	.	K	821	.	.	E	-	1	0	CHD8	20938036	0.018000	0.18449	0.998000	0.56505	0.998000	0.95712	0.207000	0.17395	0.050000	0.15949	0.655000	0.94253	GAG	CHD8	-	NULL	ENSG00000100888		0.438	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD8	HGNC	protein_coding	OTTHUMT00000410436.1	100	0.00	0	C	NM_020920		21868196	21868196	-1	no_start_codon:pseudogene:bad_bp_length_for_coding_region	ENST00000555935	ensembl	human	novel	69_37n	missense	96	23.81	30	SNP	1.000	T
CHD8	57680	genome.wustl.edu	37	14	21873580	21873580	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:21873580C>G	ENST00000557364.1	-	16	3358	c.3095G>C	c.(3094-3096)aGa>aCa	p.R1032T	CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Missense_Mutation_p.R753T|CHD8_ENST00000399982.2_Missense_Mutation_p.R1032T			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1032					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CTCTTTGAGTCTTCTCAGCAT	0.383																																						dbGAP											0													39.0	36.0	37.0					14																	21873580		1834	4094	5928	-	-	-	SO:0001583	missense	0			AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.3095G>C	14.37:g.21873580C>G	ENSP00000451601:p.Arg1032Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,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.R1032T	ENST00000557364.1	37	c.3095	CCDS53885.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.8|25.8	4.674644|4.674644	0.88445|0.88445	.|.	.|.	ENSG00000100888|ENSG00000100888	ENST00000555935|ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	.|D;D;D	.|0.99961	.|-9.38;-9.38;-9.38	5.2|5.2	5.2|5.2	0.72013|0.72013	.|SNF2-related (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99977|0.99977	0.9993|0.9993	H|H	0.99650|0.99650	4.68|4.68	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	0.98160|0.98160	1.0446|1.0446	5|10	.|0.87932	.|D	.|0	-19.6008|-19.6008	17.6614|17.6614	0.88193|0.88193	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1032;753	.|Q9HCK8;Q9HCK8-2	.|CHD8_HUMAN;.	N|T	257|753;1032;752;1032	.|ENSP00000406288:R753T;ENSP00000382863:R1032T;ENSP00000451601:R1032T	.|ENSP00000262707:R752T	K|R	-|-	3|2	2|0	CHD8|CHD8	20943420|20943420	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.651000|7.651000	0.83577|0.83577	2.706000|2.706000	0.92434|0.92434	0.561000|0.561000	0.74099|0.74099	AAG|AGA	CHD8	-	pfam_SNF2_N	ENSG00000100888		0.383	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD8	HGNC	protein_coding	OTTHUMT00000410436.1	94	0.00	0	C	NM_020920		21873580	21873580	-1	no_errors	ENST00000399982	ensembl	human	known	69_37n	missense	36	59.09	52	SNP	1.000	G
CHD9	80205	genome.wustl.edu	37	16	53348426	53348426	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:53348426C>T	ENST00000398510.3	+	34	7447	c.7360C>T	c.(7360-7362)Cat>Tat	p.H2454Y	CHD9_ENST00000447540.1_Missense_Mutation_p.H2439Y|CHD9_ENST00000564845.1_Missense_Mutation_p.H2438Y|CHD9_ENST00000566029.1_Missense_Mutation_p.H2438Y			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2454	Binds A/T-rich DNA.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				ACCACCTAATCATGTAAGTAA	0.299																																						dbGAP											0													58.0	53.0	55.0					16																	53348426		1819	4067	5886	-	-	-	SO:0001583	missense	0			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.7360C>T	16.37:g.53348426C>T	ENSP00000381522:p.His2454Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,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.H2454Y	ENST00000398510.3	37	c.7360		16	.	.	.	.	.	.	.	.	.	.	C	14.66	2.600463	0.46423	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000450543	D	0.85955	-2.05	5.75	4.8	0.61643	.	0.000000	0.64402	D	0.000009	D	0.90017	0.6883	L	0.54323	1.7	0.38178	D	0.939545	D;D;B;D;D	0.63880	0.988;0.993;0.29;0.985;0.991	P;D;B;D;D	0.70227	0.714;0.968;0.161;0.921;0.964	D	0.90725	0.4638	10	0.41790	T	0.15	-7.7679	16.2388	0.82394	0.1338:0.8662:0.0:0.0	.	520;2454;2439;2454;2438	C9JR69;B7ZML1;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;.;CHD9_HUMAN;.	Y	2439;2438;520	ENSP00000396345:H2439Y	ENSP00000381522:H2438Y	H	+	1	0	CHD9	51905927	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.634000	0.61325	1.417000	0.47077	0.655000	0.94253	CAT	CHD9	-	NULL	ENSG00000177200		0.299	CHD9-020	KNOWN	basic	protein_coding	CHD9	HGNC	protein_coding	OTTHUMT00000422345.1	57	0.00	0	C	NM_025134		53348426	53348426	+1	no_errors	ENST00000398510	ensembl	human	known	69_37n	missense	36	32.08	17	SNP	1.000	T
CHEK1	1111	genome.wustl.edu	37	11	125496685	125496685	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:125496685G>A	ENST00000534070.1	+	2	277	c.22G>A	c.(22-24)Gac>Aac	p.D8N	CHEK1_ENST00000438015.1_Missense_Mutation_p.D8N|CHEK1_ENST00000428830.2_Missense_Mutation_p.D8N|CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000524737.1_Missense_Mutation_p.D8N|CHEK1_ENST00000427383.2_Silent_p.K98K|CHEK1_ENST00000544373.1_Missense_Mutation_p.D8N|CHEK1_ENST00000278916.3_Missense_Mutation_p.D8N	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN	checkpoint kinase 1	8	Interaction with CLSPN. {ECO:0000250}.				cellular response to caffeine (GO:0071313)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to mechanical stimulus (GO:0071260)|chromatin-mediated maintenance of transcription (GO:0048096)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of mitosis (GO:0045839)|peptidyl-threonine phosphorylation (GO:0018107)|regulation of cell proliferation (GO:0042127)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of histone H3-K9 acetylation (GO:2000615)|regulation of mitotic centrosome separation (GO:0046602)|regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010767)|replicative senescence (GO:0090399)	centrosome (GO:0005813)|chromatin (GO:0000785)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	ATP binding (GO:0005524)|histone kinase activity (H3-T11 specific) (GO:0035402)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		CTTTGTGGAAGACTGGGACTT	0.488								Other conserved DNA damage response genes			OREG0021478	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													245.0	233.0	237.0					11																	125496685		2201	4299	6500	-	-	-	SO:0001583	missense	0			AF016582, BC017575	CCDS8459.1, CCDS58191.1	11q24.2	2011-11-11	2011-11-11		ENSG00000149554	ENSG00000149554			1925	protein-coding gene	gene with protein product		603078	"""CHK1 (checkpoint, S.pombe) homolog"", ""CHK1 checkpoint homolog (S. pombe)"""			9278511, 9382850	Standard	NM_001114121		Approved	CHK1	uc001qcg.4	O14757	OTTHUMG00000165853	ENST00000534070.1:c.22G>A	11.37:g.125496685G>A	ENSP00000435371:p.Asp8Asn	Somatic	1542	WXS	Illumina GAIIx	Phase_IV	A8K934|B4DDD0|B4DSK3|B5BTY6|F5H7S4|H2BI51	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.D8N	ENST00000534070.1	37	c.22	CCDS8459.1	11	.	.	.	.	.	.	.	.	.	.	G	23.8	4.462202	0.84425	.	.	ENSG00000149554	ENST00000438015;ENST00000525396;ENST00000428830;ENST00000544373;ENST00000527013;ENST00000526937;ENST00000534685;ENST00000533778;ENST00000534070;ENST00000524737;ENST00000532669;ENST00000278916	T;T;T;T;T;T;T;T;T;T;T;T	0.42900	1.83;1.83;1.83;1.83;1.83;1.83;1.83;0.96;1.83;1.83;1.99;1.83	5.58	5.58	0.84498	Protein kinase-like domain (1);	0.102478	0.64402	D	0.000004	T	0.35595	0.0937	L	0.28274	0.84	0.80722	D	1	P;B;B	0.42518	0.782;0.006;0.006	B;B;B	0.41236	0.351;0.012;0.012	T	0.04991	-1.0913	10	0.26408	T	0.33	.	19.1604	0.93529	0.0:0.0:1.0:0.0	.	8;8;8	F5H7S4;B5BTY6;O14757	.;.;CHK1_HUMAN	N	8	ENSP00000388648:D8N;ENSP00000434141:D8N;ENSP00000412504:D8N;ENSP00000442317:D8N;ENSP00000431525:D8N;ENSP00000431815:D8N;ENSP00000432470:D8N;ENSP00000433103:D8N;ENSP00000435371:D8N;ENSP00000432890:D8N;ENSP00000434646:D8N;ENSP00000278916:D8N	ENSP00000278916:D8N	D	+	1	0	CHEK1	125001895	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.375000	0.90135	2.628000	0.89032	0.484000	0.47621	GAC	CHEK1	-	superfamily_Kinase-like_dom	ENSG00000149554		0.488	CHEK1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CHEK1	HGNC	protein_coding	OTTHUMT00000386714.1	249	0.00	0	G	NM_001274		125496685	125496685	+1	no_errors	ENST00000438015	ensembl	human	known	69_37n	missense	123	51.38	130	SNP	1.000	A
CHEK2	11200	genome.wustl.edu	37	22	29091771	29091771	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:29091771G>C	ENST00000405598.1	-	12	1377	c.1186C>G	c.(1186-1188)Ctt>Gtt	p.L396V	CHEK2_ENST00000544772.1_Missense_Mutation_p.L175V|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000328354.6_Missense_Mutation_p.L396V|CHEK2_ENST00000382578.1_Missense_Mutation_p.L305V|CHEK2_ENST00000402731.1_Missense_Mutation_p.L367V|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Missense_Mutation_p.L305V|CHEK2_ENST00000382580.2_Missense_Mutation_p.L439V|CHEK2_ENST00000348295.3_Missense_Mutation_p.L367V|CHEK2_ENST00000404276.1_Missense_Mutation_p.L396V			O96017	CHK2_HUMAN	checkpoint kinase 2	396	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						ACAGAAACAAGAACTTCAGGC	0.433			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														dbGAP	yes	Rec		familial breast cancer	22	22q12.1	11200	CHK2 checkpoint homolog (S. pombe)		E	0													52.0	53.0	53.0					22																	29091771		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1186C>G	22.37:g.29091771G>C	ENSP00000386087:p.Leu396Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_FHA_dom,superfamily_Kinase-like_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FHA_dom,pfscan_Prot_kinase_cat_dom	p.L439V	ENST00000405598.1	37	c.1315	CCDS13843.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.90|12.90	2.075197|2.075197	0.36662|0.36662	.|.	.|.	ENSG00000183765|ENSG00000183765	ENST00000434810|ENST00000348295;ENST00000382578;ENST00000382563;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	.|T;T;T;T;T;T;T;T;T	.|0.69040	.|-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37	5.73|5.73	4.65|4.65	0.58169|0.58169	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.114112	.|0.64402	.|D	.|0.000008	T|T	0.58906|0.58906	0.2155|0.2155	L|L	0.47190|0.47190	1.495|1.495	0.80722|0.80722	D|D	1|1	.|B;B;B;B;B;B	.|0.31503	.|0.225;0.013;0.067;0.326;0.143;0.143	.|B;B;B;B;B;B	.|0.32149	.|0.071;0.059;0.026;0.098;0.141;0.092	T|T	0.62728|0.62728	-0.6793|-0.6793	5|10	.|0.66056	.|D	.|0.02	-8.9315|-8.9315	10.9961|10.9961	0.47578|0.47578	0.0767:0.143:0.7804:0.0|0.0767:0.143:0.7804:0.0	.|.	.|305;175;396;367;396;439	.|O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.|.;.;.;.;CHK2_HUMAN;.	L|V	139|367;305;79;175;396;396;396;439;305;367	.|ENSP00000329012:L367V;ENSP00000372021:L305V;ENSP00000442458:L175V;ENSP00000329178:L396V;ENSP00000385747:L396V;ENSP00000386087:L396V;ENSP00000372023:L439V;ENSP00000384919:L305V;ENSP00000384835:L367V	.|ENSP00000329178:L396V	F|L	-|-	3|1	2|0	CHEK2|CHEK2	27421771|27421771	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.635000|0.635000	0.38103|0.38103	4.587000|4.587000	0.60991|0.60991	2.710000|2.710000	0.92621|0.92621	0.650000|0.650000	0.86243|0.86243	TTC|CTT	CHEK2	-	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	ENSG00000183765		0.433	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	CHEK2	HGNC	protein_coding	OTTHUMT00000321150.1	59	0.00	0	G	NM_001005735		29091771	29091771	-1	no_errors	ENST00000382580	ensembl	human	known	69_37n	missense	63	32.26	30	SNP	0.998	C
CHGB	1114	genome.wustl.edu	37	20	5903796	5903796	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:5903796G>A	ENST00000378961.4	+	4	1210	c.1006G>A	c.(1006-1008)Gag>Aag	p.E336K		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	336						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						CAGGGCTTCAGAGGAAGAACC	0.537																																						dbGAP											0													53.0	57.0	56.0					20																	5903796		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"""secretogranin B"""	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.1006G>A	20.37:g.5903796G>A	ENSP00000368244:p.Glu336Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Missense_Mutation	SNP	pfam_Granin,prints_Chromogranin_AB	p.E336K	ENST00000378961.4	37	c.1006	CCDS13092.1	20	.	.	.	.	.	.	.	.	.	.	G	21.7	4.188982	0.78789	.	.	ENSG00000089199	ENST00000378961	T	0.01902	4.57	5.57	3.49	0.39957	.	0.570049	0.17519	N	0.171335	T	0.10252	0.0251	M	0.72894	2.215	0.34587	D	0.715078	D	0.57257	0.979	P	0.62813	0.907	T	0.12344	-1.0551	10	0.87932	D	0	-19.1055	14.0045	0.64453	0.0:0.2868:0.7132:0.0	.	336	P05060	SCG1_HUMAN	K	336	ENSP00000368244:E336K	ENSP00000368244:E336K	E	+	1	0	CHGB	5851796	0.957000	0.32711	0.967000	0.41034	0.902000	0.53008	1.511000	0.35801	1.279000	0.44446	0.563000	0.77884	GAG	CHGB	-	pfam_Granin	ENSG00000089199		0.537	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHGB	HGNC	protein_coding	OTTHUMT00000077897.2	33	0.00	0	G	NM_001819		5903796	5903796	+1	no_errors	ENST00000378961	ensembl	human	known	69_37n	missense	42	14.29	7	SNP	0.764	A
CHM	1121	genome.wustl.edu	37	X	85213944	85213944	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:85213944G>C	ENST00000357749.2	-	6	770	c.741C>G	c.(739-741)atC>atG	p.I247M	CHM_ENST00000467744.2_Intron|CHM_ENST00000537751.1_Missense_Mutation_p.I99M	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	247					blood vessel development (GO:0001568)|protein geranylgeranylation (GO:0018344)|protein targeting to membrane (GO:0006612)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytosol (GO:0005829)|Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				CATTAGATTTGATTAGAAGAT	0.318																																						dbGAP											0													66.0	61.0	63.0					X																	85213944		2203	4299	6502	-	-	-	SO:0001583	missense	0			X78121	CCDS14454.1, CCDS48139.1	Xq21.1-q21.3	2014-09-17			ENSG00000188419	ENSG00000188419			1940	protein-coding gene	gene with protein product		300390		TCD, DXS540		1373238	Standard	XM_006724615		Approved	REP-1	uc004eet.3	P24386	OTTHUMG00000021937	ENST00000357749.2:c.741C>G	X.37:g.85213944G>C	ENSP00000350386:p.Ile247Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4D2|O43732	Missense_Mutation	SNP	pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor	p.I247M	ENST00000357749.2	37	c.741	CCDS14454.1	X	.	.	.	.	.	.	.	.	.	.	G	16.83	3.232290	0.58777	.	.	ENSG00000188419	ENST00000357749;ENST00000537751	D;D	0.88046	-2.33;-2.33	4.83	3.97	0.46021	.	0.000000	0.85682	D	0.000000	D	0.93782	0.8012	M	0.92169	3.28	0.54753	D	0.999981	D	0.89917	1.0	D	0.97110	1.0	D	0.92783	0.6242	10	0.72032	D	0.01	-3.6233	7.5242	0.27645	0.2697:0.0:0.7303:0.0	.	247	P24386	RAE1_HUMAN	M	247;99	ENSP00000350386:I247M;ENSP00000441728:I99M	ENSP00000350386:I247M	I	-	3	3	CHM	85100600	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.710000	0.37920	0.820000	0.34516	0.513000	0.50165	ATC	CHM	-	pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_GDP_dissociation_inhibitor	ENSG00000188419		0.318	CHM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHM	HGNC	protein_coding	OTTHUMT00000057396.3	77	0.00	0	G	NM_000390		85213944	85213944	-1	no_errors	ENST00000357749	ensembl	human	known	69_37n	missense	36	23.40	11	SNP	1.000	C
CHORDC1	26973	genome.wustl.edu	37	11	89956074	89956074	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:89956074C>G	ENST00000320585.6	-	1	458	c.49G>C	c.(49-51)Gag>Cag	p.E17Q	CHORDC1_ENST00000457199.2_Missense_Mutation_p.E17Q|CHORDC1_ENST00000530765.1_Missense_Mutation_p.E17Q	NM_012124.2	NP_036256.2	Q9UHD1	CHRD1_HUMAN	cysteine and histidine-rich domain (CHORD) containing 1	17	CHORD 1. {ECO:0000255|PROSITE- ProRule:PRU00734}.|Interaction with PPP5C. {ECO:0000250}.				chaperone-mediated protein folding (GO:0061077)|negative regulation of Rho-dependent protein serine/threonine kinase activity (GO:2000299)|regulation of cellular response to heat (GO:1900034)|regulation of centrosome duplication (GO:0010824)|response to stress (GO:0006950)		Hsp90 protein binding (GO:0051879)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|liver(1)|lung(6)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)				GAATTGGTCTCAGGATCGAAG	0.637																																						dbGAP											0													48.0	40.0	43.0					11																	89956074		2201	4298	6499	-	-	-	SO:0001583	missense	0			AF192466	CCDS8289.1, CCDS44705.1	11q14.3	2011-01-25	2011-01-25		ENSG00000110172	ENSG00000110172			14525	protein-coding gene	gene with protein product		604353	"""cysteine and histidine-rich domain (CHORD)-containing, zinc-binding protein 1"", ""cysteine and histidine-rich domain (CHORD)-containing 1"""			10571178	Standard	NM_012124		Approved	CHP1	uc001pdg.2	Q9UHD1	OTTHUMG00000167305	ENST00000320585.6:c.49G>C	11.37:g.89956074C>G	ENSP00000319255:p.Glu17Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6P8|Q6IN49|Q8WVL9|Q9H3D6	Missense_Mutation	SNP	pfam_CHORD,pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain	p.E17Q	ENST00000320585.6	37	c.49	CCDS8289.1	11	.	.	.	.	.	.	.	.	.	.	C	8.413	0.844573	0.16963	.	.	ENSG00000110172	ENST00000320585;ENST00000457199;ENST00000530765	T;T	0.46451	0.87;0.89	4.69	3.78	0.43462	Cysteine/histidine-rich domain (2);	0.102528	0.64402	D	0.000004	T	0.33030	0.0849	L	0.38692	1.165	0.80722	D	1	B;B	0.22604	0.026;0.072	B;B	0.25759	0.025;0.063	T	0.07693	-1.0759	9	.	.	.	-4.6276	13.1765	0.59630	0.0:0.9224:0.0:0.0775	.	17;17	Q9UHD1-2;Q9UHD1	.;CHRD1_HUMAN	Q	17	ENSP00000319255:E17Q;ENSP00000401080:E17Q	.	E	-	1	0	CHORDC1	89595722	0.987000	0.35691	0.745000	0.31077	0.187000	0.23431	4.218000	0.58554	1.116000	0.41820	-0.151000	0.13558	GAG	CHORDC1	-	pfam_CHORD	ENSG00000110172		0.637	CHORDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHORDC1	HGNC	protein_coding	OTTHUMT00000394111.1	52	0.00	0	C	NM_012124		89956074	89956074	-1	no_errors	ENST00000320585	ensembl	human	known	69_37n	missense	25	30.56	11	SNP	0.998	G
CHPT1	56994	genome.wustl.edu	37	12	102113929	102113929	+	Missense_Mutation	SNP	T	T	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:102113929T>G	ENST00000229266.3	+	5	912	c.677T>G	c.(676-678)aTc>aGc	p.I226S	CHPT1_ENST00000549872.1_Missense_Mutation_p.I226S|CHPT1_ENST00000550385.1_3'UTR|Y_RNA_ENST00000363063.1_RNA	NM_020244.2	NP_064629.2	Q8WUD6	CHPT1_HUMAN	choline phosphotransferase 1	226					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|regulation of cell growth (GO:0001558)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	diacylglycerol binding (GO:0019992)|diacylglycerol cholinephosphotransferase activity (GO:0004142)|metal ion binding (GO:0046872)			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						AAATTGAAGATCCTTCCAGTT	0.308																																						dbGAP											0													81.0	80.0	80.0					12																	102113929		2203	4297	6500	-	-	-	SO:0001583	missense	0				CCDS9086.1	12q	2010-07-08				ENSG00000111666	2.7.8.2		17852	protein-coding gene	gene with protein product	"""phosphatidylcholine synthesizing enzyme"""					10893425	Standard	NM_020244		Approved	CPT1	uc001tin.3	Q8WUD6		ENST00000229266.3:c.677T>G	12.37:g.102113929T>G	ENSP00000229266:p.Ile226Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQM2|Q7Z7H0|Q7Z7H1|Q7Z7H2|Q8IWQ4|Q8IWQ5|Q8WYI4|Q9NRQ6|Q9NRQ7|Q9Y6M6	Missense_Mutation	SNP	pfam_CDP-OH_P_trans,pirsf_CHOPT	p.I226S	ENST00000229266.3	37	c.677	CCDS9086.1	12	.	.	.	.	.	.	.	.	.	.	T	13.79	2.342680	0.41498	.	.	ENSG00000111666	ENST00000229266;ENST00000549872;ENST00000543999	T;T	0.43688	0.94;0.94	5.41	5.41	0.78517	.	0.405345	0.29444	N	0.012140	T	0.42653	0.1212	M	0.72894	2.215	0.33854	D	0.632992	P;B	0.36048	0.534;0.049	B;B	0.38842	0.283;0.017	T	0.55885	-0.8070	10	0.23302	T	0.38	-5.0421	9.8947	0.41311	0.0:0.076:0.0:0.924	.	226;226	F8W1B3;Q8WUD6	.;CHPT1_HUMAN	S	226;226;59	ENSP00000229266:I226S;ENSP00000448766:I226S	ENSP00000229266:I226S	I	+	2	0	CHPT1	100638060	0.759000	0.28416	0.988000	0.46212	0.987000	0.75469	0.997000	0.29731	2.035000	0.60131	0.533000	0.62120	ATC	CHPT1	-	pirsf_CHOPT	ENSG00000111666		0.308	CHPT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHPT1	HGNC	protein_coding	OTTHUMT00000409173.1	165	0.00	0	T	NM_020244		102113929	102113929	+1	no_errors	ENST00000229266	ensembl	human	known	69_37n	missense	141	18.02	31	SNP	1.000	G
CHRM1	1128	genome.wustl.edu	37	11	62677493	62677493	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:62677493C>G	ENST00000306960.3	-	2	1621	c.1080G>C	c.(1078-1080)gaG>gaC	p.E360D	AP000438.2_ENST00000543624.1_RNA	NM_000738.2	NP_000729.2	P11229	ACM1_HUMAN	cholinergic receptor, muscarinic 1	360					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cognition (GO:0050890)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|neuromuscular synaptic transmission (GO:0007274)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of ion transport (GO:0043270)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of locomotion (GO:0040012)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)			large_intestine(5)|lung(3)|stomach(1)	9					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Benzatropine(DB00245)|Biperiden(DB00810)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbachol(DB00411)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Citalopram(DB00215)|Clidinium(DB00771)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Doxylamine(DB00366)|Escitalopram(DB01175)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Flupentixol(DB00875)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Trospium(DB00209)|Ziprasidone(DB00246)	CCGCCTTCTTCTCCTTGACCA	0.597																																						dbGAP											0													65.0	61.0	62.0					11																	62677493		2201	4298	6499	-	-	-	SO:0001583	missense	0			Y00508	CCDS8040.1	11q12-q13	2012-08-08				ENSG00000168539		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1950	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 1"""	118510					Standard	NM_000738		Approved		uc001nwi.3	P11229		ENST00000306960.3:c.1080G>C	11.37:g.62677493C>G	ENSP00000306490:p.Glu360Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96RH1	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Musac_M1_rcpt,prints_Musac_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.E360D	ENST00000306960.3	37	c.1080	CCDS8040.1	11	.	.	.	.	.	.	.	.	.	.	C	14.35	2.508953	0.44660	.	.	ENSG00000168539	ENST00000306960;ENST00000543973	T;T	0.75260	-0.92;-0.92	4.49	2.62	0.31277	GPCR, rhodopsin-like superfamily (1);	0.094954	0.40222	N	0.001146	T	0.79167	0.4400	L	0.47078	1.49	0.38748	D	0.954032	D	0.69078	0.997	D	0.76071	0.987	T	0.79266	-0.1874	10	0.87932	D	0	-16.0694	8.6708	0.34149	0.0:0.8102:0.0:0.1898	.	360	P11229	ACM1_HUMAN	D	360	ENSP00000306490:E360D;ENSP00000441188:E360D	ENSP00000306490:E360D	E	-	3	2	CHRM1	62434069	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.568000	0.45965	0.511000	0.28236	0.561000	0.74099	GAG	CHRM1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000168539		0.597	CHRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM1	HGNC	protein_coding	OTTHUMT00000396178.1	38	0.00	0	C	NM_000738		62677493	62677493	-1	no_errors	ENST00000306960	ensembl	human	known	69_37n	missense	32	41.82	23	SNP	1.000	G
CHRNA5	1138	genome.wustl.edu	37	15	78882189	78882189	+	Missense_Mutation	SNP	C	C	G	rs201805555		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:78882189C>G	ENST00000299565.5	+	5	656	c.456C>G	c.(454-456)atC>atG	p.I152M	CHRNA5_ENST00000559554.1_Missense_Mutation_p.I152M|RP11-650L12.2_ENST00000567141.1_RNA	NM_000745.3	NP_000736.2	P30532	ACHA5_HUMAN	cholinergic receptor, nicotinic, alpha 5 (neuronal)	152					behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3)	15					Galantamine(DB00674)|Nicotine(DB00184)	AAACAGTCATCAGGTACAATG	0.398																																						dbGAP											0													165.0	144.0	151.0					15																	78882189		2196	4293	6489	-	-	-	SO:0001583	missense	0				CCDS10304.1	15q24	2012-02-11	2012-02-07		ENSG00000169684	ENSG00000169684		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1959	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 5 (neuronal)"""	118505	"""cholinergic receptor, nicotinic, alpha polypeptide 5"""			2004777	Standard	NM_000745		Approved		uc002bdy.3	P30532	OTTHUMG00000143858	ENST00000299565.5:c.456C>G	15.37:g.78882189C>G	ENSP00000299565:p.Ile152Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15824|Q99554	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.I152M	ENST00000299565.5	37	c.456	CCDS10304.1	15	.	.	.	.	.	.	.	.	.	.	C	13.08	2.130154	0.37630	.	.	ENSG00000169684	ENST00000299565;ENST00000394802	D	0.81739	-1.53	5.37	3.39	0.38822	Neurotransmitter-gated ion-channel ligand-binding (3);	0.163400	0.53938	D	0.000050	T	0.77705	0.4170	M	0.75150	2.29	0.25420	N	0.988274	B	0.30068	0.267	B	0.32289	0.143	T	0.72354	-0.4319	10	0.72032	D	0.01	.	8.0332	0.30478	0.2292:0.4282:0.3426:0.0	.	152	P30532	ACHA5_HUMAN	M	152;103	ENSP00000299565:I152M	ENSP00000299565:I152M	I	+	3	3	CHRNA5	76669244	0.972000	0.33761	0.995000	0.50966	0.806000	0.45545	0.156000	0.16382	2.673000	0.90976	0.655000	0.94253	ATC	CHRNA5	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,tigrfam_Neur_channel	ENSG00000169684		0.398	CHRNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNA5	HGNC	protein_coding	OTTHUMT00000290106.1	179	0.00	0	C			78882189	78882189	+1	no_errors	ENST00000299565	ensembl	human	known	69_37n	missense	93	48.35	88	SNP	1.000	G
CHRNA3	1136	genome.wustl.edu	37	15	78911198	78911198	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:78911198C>T	ENST00000326828.5	-	2	526	c.142G>A	c.(142-144)Gag>Aag	p.E48K	CHRNA3_ENST00000348639.3_Missense_Mutation_p.E48K|CHRNA3_ENST00000559941.1_5'UTR	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	48					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane potential (GO:0042391)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18					Bupropion(DB01156)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)|Varenicline(DB01273)	CGGATGATCTCATTGTAATCT	0.552											OREG0023334	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													80.0	72.0	74.0					15																	78911198		2196	4293	6489	-	-	-	SO:0001583	missense	0				CCDS10305.1, CCDS53964.1	15q24	2012-02-11	2012-02-07		ENSG00000080644	ENSG00000080644		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1957	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 3 (neuronal)"""	118503	"""cholinergic receptor, nicotinic, alpha polypeptide 3"""			2004777	Standard	NM_000743		Approved		uc002bec.3	P32297	OTTHUMG00000143863	ENST00000326828.5:c.142G>A	15.37:g.78911198C>T	ENSP00000315602:p.Glu48Lys	Somatic	1187	WXS	Illumina GAIIx	Phase_IV	Q15823|Q4KMN8|Q86U77|Q96RH3|Q99553|Q9BQ93|Q9BRR4	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.E48K	ENST00000326828.5	37	c.142	CCDS10305.1	15	.	.	.	.	.	.	.	.	.	.	C	8.129	0.782704	0.16189	.	.	ENSG00000080644	ENST00000348639;ENST00000326828	T;T	0.76448	-1.02;-1.02	5.81	5.81	0.92471	Neurotransmitter-gated ion-channel ligand-binding (3);	0.101606	0.64402	D	0.000002	T	0.25269	0.0614	N	0.00004	-3.355	0.39563	D	0.969155	B;B	0.17038	0.005;0.02	B;B	0.19666	0.026;0.015	T	0.58487	-0.7628	10	0.06099	T	0.92	.	9.1718	0.37086	0.0:0.6627:0.2606:0.0767	.	48;48	P32297;P32297-3	ACHA3_HUMAN;.	K	48	ENSP00000267951:E48K;ENSP00000315602:E48K	ENSP00000315602:E48K	E	-	1	0	CHRNA3	76698253	1.000000	0.71417	0.997000	0.53966	0.605000	0.37080	5.713000	0.68415	2.756000	0.94617	0.655000	0.94253	GAG	CHRNA3	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel	ENSG00000080644		0.552	CHRNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNA3	HGNC	protein_coding	OTTHUMT00000290111.3	45	0.00	0	C			78911198	78911198	-1	no_errors	ENST00000326828	ensembl	human	known	69_37n	missense	39	23.53	12	SNP	1.000	T
CHSY1	22856	genome.wustl.edu	37	15	101718105	101718105	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:101718105C>G	ENST00000254190.3	-	3	2372	c.1897G>C	c.(1897-1899)Gac>Cac	p.D633H	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	633					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of ossification (GO:0030279)|response to nutrient levels (GO:0031667)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AACACGAGGTCGACGTCGCAG	0.453																																						dbGAP											0													68.0	65.0	66.0					15																	101718105		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023207	CCDS10390.1	15q26.3	2013-02-19	2008-01-24	2008-01-24	ENSG00000131873	ENSG00000131873	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	17198	protein-coding gene	gene with protein product		608183	"""carbohydrate (chondroitin) synthase 1"""			11514575	Standard	NM_014918		Approved	KIAA0990, CSS1	uc021sxt.1	Q86X52	OTTHUMG00000149873	ENST00000254190.3:c.1897G>C	15.37:g.101718105C>G	ENSP00000254190:p.Asp633His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UX38|Q7LFU5|Q9Y2J5	Missense_Mutation	SNP	pfam_Chond_GalNAc,pfam_Fringe-like	p.D633H	ENST00000254190.3	37	c.1897	CCDS10390.1	15	.	.	.	.	.	.	.	.	.	.	C	18.24	3.580139	0.65992	.	.	ENSG00000131873	ENST00000254190;ENST00000543813	T	0.78246	-1.16	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.90463	0.7013	M	0.90369	3.11	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88959	0.3392	10	0.32370	T	0.25	-72.3266	20.063	0.97692	0.0:1.0:0.0:0.0	.	633	Q86X52	CHSS1_HUMAN	H	633;361	ENSP00000254190:D633H	ENSP00000254190:D633H	D	-	1	0	CHSY1	99535628	1.000000	0.71417	0.972000	0.41901	0.642000	0.38348	7.566000	0.82347	2.735000	0.93741	0.655000	0.94253	GAC	CHSY1	-	pfam_Chond_GalNAc	ENSG00000131873		0.453	CHSY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHSY1	HGNC	protein_coding	OTTHUMT00000313624.1	36	0.00	0	C	NM_014918		101718105	101718105	-1	no_errors	ENST00000254190	ensembl	human	known	69_37n	missense	32	15.79	6	SNP	1.000	G
CHTOP	26097	genome.wustl.edu	37	1	153610786	153610786	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:153610786G>A	ENST00000368694.3	+	3	393	c.81G>A	c.(79-81)ctG>ctA	p.L27L	CHTOP_ENST00000368687.1_Silent_p.L2L|CHTOP_ENST00000368686.1_5'Flank|CHTOP_ENST00000368690.3_Silent_p.L27L|CHTOP_ENST00000495554.1_3'UTR|CHTOP_ENST00000403433.1_Silent_p.L27L	NM_001206612.1|NM_015607.3	NP_001193541.1|NP_056422.2	Q9Y3Y2	CHTOP_HUMAN	chromatin target of PRMT1	27					mRNA export from nucleus (GO:0006406)|positive regulation of ATPase activity (GO:0032781)|positive regulation of helicase activity (GO:0051096)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)|transcription export complex (GO:0000346)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(6)	13						CTAATATGCTGAAGAACAAAC	0.433																																						dbGAP											0													67.0	70.0	69.0					1																	153610786		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS1048.1, CCDS72917.1, CCDS72918.1	1q21.3	2011-03-24	2011-03-24	2011-03-24	ENSG00000160679	ENSG00000160679			24511	protein-coding gene	gene with protein product	"""small protein rich in arginine and glycine"", ""Friend of Prmt1"""	614206	"""chromosome 1 open reading frame 77"""	C1orf77		19254951	Standard	NM_015607		Approved	DKFZP547E1010, SRAG, FOP	uc001fcn.2	Q9Y3Y2	OTTHUMG00000037052	ENST00000368694.3:c.81G>A	1.37:g.153610786G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DV55|Q0VAQ8|Q2VPI9|Q5T7Y8|Q5T7Y9|Q5T7Z0|Q6NSM4|Q6PB28|Q8WYT9|Q9BUC5|Q9H034|Q9H2L0	Silent	SNP	NULL	p.L27	ENST00000368694.3	37	c.81	CCDS1048.1	1																																																																																			CHTOP	-	NULL	ENSG00000160679		0.433	CHTOP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHTOP	HGNC	protein_coding	OTTHUMT00000089967.1	62	0.00	0	G	NM_015607		153610786	153610786	+1	no_errors	ENST00000368694	ensembl	human	known	69_37n	silent	51	36.25	29	SNP	1.000	A
TMEM127	55654	genome.wustl.edu	37	2	96934216	96934216	+	5'Flank	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:96934216G>C	ENST00000258439.3	-	0	0				TMEM127_ENST00000432959.1_5'Flank|CIAO1_ENST00000488633.1_Missense_Mutation_p.D171H	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	O75204	TM127_HUMAN	transmembrane protein 127						negative regulation of cell proliferation (GO:0008285)|negative regulation of TOR signaling (GO:0032007)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						TGCCAGCTATGATGACACAGT	0.542																																						dbGAP											0													123.0	118.0	120.0					2																	96934216		2203	4300	6503	-	-	-	SO:0001631	upstream_gene_variant	0			AK000514	CCDS2018.1	2q11.2	2014-09-17			ENSG00000135956	ENSG00000135956			26038	protein-coding gene	gene with protein product		613403				10493829	Standard	NM_017849		Approved	FLJ20507, FLJ22257	uc002svr.3	O75204	OTTHUMG00000130454		2.37:g.96934216G>C	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DXH0	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D171H	ENST00000258439.3	37	c.511	CCDS2018.1	2	.	.	.	.	.	.	.	.	.	.	G	23.6	4.435154	0.83885	.	.	ENSG00000144021	ENST00000488633	D	0.89415	-2.51	5.82	4.95	0.65309	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	D	0.96445	0.8840	H	0.98133	4.155	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97210	0.9870	10	0.87932	D	0	-15.107	12.4573	0.55712	0.0807:0.0:0.9193:0.0	.	171	O76071	CIAO1_HUMAN	H	171	ENSP00000418287:D171H	ENSP00000418287:D171H	D	+	1	0	CIAO1	96297943	1.000000	0.71417	0.986000	0.45419	0.969000	0.65631	9.460000	0.97641	1.471000	0.48121	0.563000	0.77884	GAT	CIAO1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000144021		0.542	TMEM127-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CIAO1	HGNC	protein_coding	OTTHUMT00000252845.3	115	0.00	0	G	NM_017849		96934216	96934216	+1	no_errors	ENST00000488633	ensembl	human	known	69_37n	missense	70	42.62	52	SNP	1.000	C
CIC	23152	genome.wustl.edu	37	19	42797401	42797401	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:42797401G>C	ENST00000575354.2	+	15	3803	c.3763G>C	c.(3763-3765)Gag>Cag	p.E1255Q	CIC_ENST00000572681.2_Missense_Mutation_p.E2162Q|CIC_ENST00000160740.3_Missense_Mutation_p.E1253Q	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1255	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				ACCTGCTGAGGAGCGGACCAG	0.687			"""Mis, F, S"""		oligodendroglioma																																	dbGAP		Rec	yes		19	19q13.2	23152	capicua homolog		O	0													8.0	9.0	9.0					19																	42797401		2167	4259	6426	-	-	-	SO:0001583	missense	0			AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.3763G>C	19.37:g.42797401G>C	ENSP00000458663:p.Glu1255Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.E1255Q	ENST00000575354.2	37	c.3763	CCDS12601.1	19	.	.	.	.	.	.	.	.	.	.	G	12.26	1.884857	0.33255	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.72	4.72	0.59763	.	.	.	.	.	T	0.40956	0.1138	N	0.19112	0.55	0.38741	D	0.953889	P	0.45044	0.849	B	0.42163	0.378	T	0.51204	-0.8735	8	0.87932	D	0	-19.5925	13.3901	0.60818	0.0:0.0:1.0:0.0	.	1255	Q96RK0	CIC_HUMAN	Q	1255	.	ENSP00000160740:E1255Q	E	+	1	0	CIC	47489241	1.000000	0.71417	0.950000	0.38849	0.300000	0.27592	3.963000	0.56773	2.639000	0.89480	0.491000	0.48974	GAG	CIC	-	NULL	ENSG00000079432		0.687	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CIC	HGNC	protein_coding	OTTHUMT00000438532.2	10	0.00	0	G			42797401	42797401	+1	no_errors	ENST00000160740	ensembl	human	known	69_37n	missense	7	41.67	5	SNP	0.998	C
CKAP4	10970	genome.wustl.edu	37	12	106633506	106633506	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:106633506C>G	ENST00000378026.4	-	2	1241	c.1105G>C	c.(1105-1107)Gag>Cag	p.E369Q	CKAP4_ENST00000552828.1_5'Flank	NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	369						cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						CTCCGGATCTCCTCCGGGAGG	0.652																																						dbGAP											0													30.0	34.0	33.0					12																	106633506		2202	4299	6501	-	-	-	SO:0001583	missense	0			X69910	CCDS9103.1	12q23.3	2006-06-23				ENSG00000136026			16991	protein-coding gene	gene with protein product						8314870	Standard	NM_006825		Approved	P63, CLIMP-63, ERGIC-63	uc001tlk.3	Q07065		ENST00000378026.4:c.1105G>C	12.37:g.106633506C>G	ENSP00000367265:p.Glu369Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q504S5|Q53ES6	Missense_Mutation	SNP	superfamily_Tscrpt_elong_fac_GreA/B_N,superfamily_STAT_TF_coiled-coil	p.E369Q	ENST00000378026.4	37	c.1105	CCDS9103.1	12	.	.	.	.	.	.	.	.	.	.	C	18.78	3.697123	0.68386	.	.	ENSG00000136026	ENST00000378026	T	0.77620	-1.11	5.82	4.91	0.64330	.	0.904761	0.09736	N	0.762495	T	0.78355	0.4270	M	0.64997	1.995	0.33759	D	0.621564	P	0.36990	0.577	B	0.38264	0.269	T	0.76937	-0.2774	10	0.26408	T	0.33	-26.1577	16.5797	0.84711	0.0:0.8695:0.1305:0.0	.	369	Q07065	CKAP4_HUMAN	Q	369	ENSP00000367265:E369Q	ENSP00000367265:E369Q	E	-	1	0	CKAP4	105157636	0.993000	0.37304	0.291000	0.24904	0.739000	0.42172	3.128000	0.50492	1.400000	0.46741	0.563000	0.77884	GAG	CKAP4	-	superfamily_Tscrpt_elong_fac_GreA/B_N	ENSG00000136026		0.652	CKAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CKAP4	HGNC	protein_coding	OTTHUMT00000407196.1	24	0.00	0	C			106633506	106633506	-1	no_errors	ENST00000378026	ensembl	human	known	69_37n	missense	24	17.24	5	SNP	0.915	G
CKAP5	9793	genome.wustl.edu	37	11	46799088	46799088	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:46799088C>T	ENST00000529230.1	-	23	2809	c.2763G>A	c.(2761-2763)ctG>ctA	p.L921L	CKAP5_ENST00000354558.3_Silent_p.L921L|CKAP5_ENST00000312055.5_Silent_p.L921L|CKAP5_ENST00000415402.1_Silent_p.L921L			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	921					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						GCAGGATATTCAGCGTTTGCT	0.413																																					Ovarian(4;85 273 2202 4844 13323)	dbGAP											0													115.0	105.0	108.0					11																	46799088		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0				CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.2763G>A	11.37:g.46799088C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Silent	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.L921	ENST00000529230.1	37	c.2763	CCDS31477.1	11																																																																																			CKAP5	-	pfam_CLASP_N_dom,superfamily_ARM-type_fold	ENSG00000175216		0.413	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CKAP5	HGNC	protein_coding	OTTHUMT00000390679.1	141	0.00	0	C	NM_014756		46799088	46799088	-1	no_errors	ENST00000415402	ensembl	human	known	69_37n	silent	150	15.25	27	SNP	1.000	T
CLASP1	23332	genome.wustl.edu	37	2	122260751	122260751	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:122260751G>C	ENST00000263710.4	-	8	1093	c.704C>G	c.(703-705)tCt>tGt	p.S235C	CLASP1_ENST00000409078.3_Missense_Mutation_p.S235C|CLASP1_ENST00000541377.1_Missense_Mutation_p.S235C|CLASP1_ENST00000455322.2_Missense_Mutation_p.S235C|CLASP1_ENST00000397587.3_Missense_Mutation_p.S235C	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	235					axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					ACCATTTGCAGATTGTATCAT	0.299																																						dbGAP											0													87.0	80.0	83.0					2																	122260751		1792	3989	5781	-	-	-	SO:0001583	missense	0			AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"""multiple asters 1"""	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.704C>G	2.37:g.122260751G>C	ENSP00000263710:p.Ser235Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.S235C	ENST00000263710.4	37	c.704		2	.	.	.	.	.	.	.	.	.	.	G	16.90	3.250656	0.59212	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000409078;ENST00000418989;ENST00000449975	T;T;T;T;T;T;T	0.66638	-0.22;1.92;1.93;1.91;1.93;0.83;0.83	5.64	4.71	0.59529	Armadillo-type fold (1);	0.252580	0.39020	N	0.001484	T	0.68174	0.2972	M	0.72118	2.19	0.80722	D	1	P;P;P;D	0.52996	0.948;0.933;0.948;0.957	B;P;B;P	0.45610	0.387;0.487;0.41;0.471	T	0.73892	-0.3839	10	0.87932	D	0	-0.077	12.1212	0.53893	0.0:0.253:0.747:0.0	.	235;235;235;235	E7EUA5;F5GWS0;B7ZLX3;Q7Z460	.;.;.;CLAP1_HUMAN	C	235;235;235;235;235;4;4	ENSP00000263710:S235C;ENSP00000389372:S235C;ENSP00000380717:S235C;ENSP00000441625:S235C;ENSP00000386442:S235C;ENSP00000392886:S4C;ENSP00000402101:S4C	ENSP00000263710:S235C	S	-	2	0	CLASP1	121977221	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	2.863000	0.48396	2.662000	0.90505	0.655000	0.94253	TCT	CLASP1	-	superfamily_ARM-type_fold	ENSG00000074054		0.299	CLASP1-201	KNOWN	basic	protein_coding	CLASP1	HGNC	protein_coding		155	0.00	0	G	NM_015282		122260751	122260751	-1	no_errors	ENST00000263710	ensembl	human	known	69_37n	missense	125	18.83	29	SNP	0.999	C
CLCA2	9635	genome.wustl.edu	37	1	86896607	86896607	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:86896607G>A	ENST00000370565.4	+	4	700	c.538G>A	c.(538-540)Gac>Aac	p.D180N		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	180	Metalloprotease domain. {ECO:0000250|UniProtKB:A8K7I4}.				cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		GTATAACAATGACAAACCTTT	0.358																																					Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)	dbGAP											0													137.0	137.0	137.0					1																	86896607		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"""chloride channel, calcium activated, family member 2"", ""chloride channel regulator 2"""				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.538G>A	1.37:g.86896607G>A	ENSP00000359596:p.Asp180Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2T3|Q9Y6N2	Missense_Mutation	SNP	pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot	p.D180N	ENST00000370565.4	37	c.538	CCDS708.1	1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.360913	0.82353	.	.	ENSG00000137975	ENST00000370565	T	0.16324	2.35	5.96	5.05	0.67936	Chloride channel calcium-activated (1);	0.172417	0.49916	D	0.000130	T	0.10252	0.0251	L	0.60012	1.86	0.41174	D	0.986183	B	0.18968	0.032	B	0.22880	0.042	T	0.03443	-1.1036	10	0.36615	T	0.2	-11.269	14.6894	0.69072	0.07:0.0:0.93:0.0	.	180	Q9UQC9	CLCA2_HUMAN	N	180	ENSP00000359596:D180N	ENSP00000359596:D180N	D	+	1	0	CLCA2	86669195	1.000000	0.71417	0.877000	0.34402	0.837000	0.47467	7.372000	0.79612	1.518000	0.48934	0.655000	0.94253	GAC	CLCA2	-	pfam_Cl_channel_Ca,tigrfam_CaCC_prot	ENSG00000137975		0.358	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCA2	HGNC	protein_coding	OTTHUMT00000028284.1	127	0.00	0	G	NM_006536		86896607	86896607	+1	no_errors	ENST00000370565	ensembl	human	known	69_37n	missense	69	17.86	15	SNP	1.000	A
CLCA2	9635	genome.wustl.edu	37	1	86913346	86913346	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:86913346G>A	ENST00000370565.4	+	11	2031	c.1869G>A	c.(1867-1869)atG>atA	p.M623I		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	623					cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		ATCCTGTGATGATTTATGCCA	0.507																																					Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)	dbGAP											0													141.0	134.0	137.0					1																	86913346		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"""chloride channel, calcium activated, family member 2"", ""chloride channel regulator 2"""				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.1869G>A	1.37:g.86913346G>A	ENSP00000359596:p.Met623Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2T3|Q9Y6N2	Missense_Mutation	SNP	pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot	p.M623I	ENST00000370565.4	37	c.1869	CCDS708.1	1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.577756	0.00879	.	.	ENSG00000137975	ENST00000370565	T	0.23147	1.92	5.93	-0.627	0.11541	Domain of unknown function DUF1973 (1);	0.357644	0.31438	N	0.007653	T	0.01287	0.0042	N	0.01761	-0.735	0.24569	N	0.993931	B	0.02656	0.0	B	0.04013	0.001	T	0.36986	-0.9725	10	0.02654	T	1	-4.2859	1.8945	0.03255	0.2031:0.2471:0.387:0.1628	.	623	Q9UQC9	CLCA2_HUMAN	I	623	ENSP00000359596:M623I	ENSP00000359596:M623I	M	+	3	0	CLCA2	86685934	0.690000	0.27699	0.978000	0.43139	0.106000	0.19336	-0.506000	0.06359	-0.014000	0.14175	0.655000	0.94253	ATG	CLCA2	-	pfam_DUF1973,tigrfam_CaCC_prot	ENSG00000137975		0.507	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCA2	HGNC	protein_coding	OTTHUMT00000028284.1	83	0.00	0	G	NM_006536		86913346	86913346	+1	no_errors	ENST00000370565	ensembl	human	known	69_37n	missense	71	25.26	24	SNP	0.892	A
CLCA1	1179	genome.wustl.edu	37	1	86951097	86951097	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:86951097C>T	ENST00000234701.3	+	7	1158	c.807C>T	c.(805-807)ctC>ctT	p.L269L	CLCA1_ENST00000394711.1_Silent_p.L269L			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	269					calcium ion transport (GO:0006816)|cellular response to hypoxia (GO:0071456)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|zymogen granule membrane (GO:0042589)	chloride channel activity (GO:0005254)			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		AATGCAATCTCCGAAGCACAT	0.383																																						dbGAP											0													136.0	114.0	121.0					1																	86951097		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS709.1	1p22.3	2012-02-26	2009-01-29		ENSG00000016490	ENSG00000016490			2015	protein-coding gene	gene with protein product		603906	"""chloride channel, calcium activated, family member 1"", ""chloride channel regulator 1"""			9828122	Standard	NM_001285		Approved	CaCC, CLCRG1	uc001dlt.3	A8K7I4	OTTHUMG00000010254	ENST00000234701.3:c.807C>T	1.37:g.86951097C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Silent	SNP	pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,superfamily_Fibronectin_type3,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot	p.L269	ENST00000234701.3	37	c.807	CCDS709.1	1																																																																																			CLCA1	-	tigrfam_CaCC_prot	ENSG00000016490		0.383	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCA1	HGNC	protein_coding	OTTHUMT00000028277.1	107	0.00	0	C	NM_001285		86951097	86951097	+1	no_errors	ENST00000234701	ensembl	human	known	69_37n	silent	81	22.86	24	SNP	1.000	T
CLCN2	1181	genome.wustl.edu	37	3	184069895	184069895	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:184069895C>T	ENST00000265593.4	-	22	2492	c.2321G>A	c.(2320-2322)tGg>tAg	p.W774*	EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000423355.2_3'UTR|CLCN2_ENST00000434054.2_Nonsense_Mutation_p.W730*|CLCN2_ENST00000457512.1_Nonsense_Mutation_p.W774*|CLCN2_ENST00000344937.7_Nonsense_Mutation_p.W757*	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	774					cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)	p.W774L(1)		breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	CTGCTCCTCCCACTCCAGAAT	0.542																																						dbGAP											1	Substitution - Missense(1)	lung(1)											119.0	109.0	112.0					3																	184069895		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"""Ion channels / Chloride channels : Voltage-sensitive"""	2020	protein-coding gene	gene with protein product		600570	"""chloride channel 2"""			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.2321G>A	3.37:g.184069895C>T	ENSP00000265593:p.Trp774*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Nonsense_Mutation	SNP	pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated,prints_Cl-channel-2	p.W774*	ENST00000265593.4	37	c.2321	CCDS3263.1	3	.	.	.	.	.	.	.	.	.	.	c	40	7.940306	0.98571	.	.	ENSG00000114859	ENST00000265593;ENST00000344937;ENST00000434054;ENST00000457512	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.2296	19.5924	0.95520	0.0:1.0:0.0:0.0	.	.	.	.	X	774;757;730;774	.	ENSP00000265593:W774X	W	-	2	0	CLCN2	185552589	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.759000	0.85235	2.640000	0.89533	0.462000	0.41574	TGG	CLCN2	-	NULL	ENSG00000114859		0.542	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLCN2	HGNC	protein_coding	OTTHUMT00000345571.1	84	0.00	0	C			184069895	184069895	-1	no_errors	ENST00000265593	ensembl	human	known	69_37n	nonsense	108	21.17	29	SNP	1.000	T
CLCN7	1186	genome.wustl.edu	37	16	1505783	1505783	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:1505783G>C	ENST00000382745.4	-	11	1535	c.930C>G	c.(928-930)ttC>ttG	p.F310L	CLCN7_ENST00000262318.8_Missense_Mutation_p.F286L|CLCN7_ENST00000448525.1_Missense_Mutation_p.F286L	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	310					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|response to pH (GO:0009268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|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)			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				CCTCCAAGCTGAACAGGACCC	0.647																																						dbGAP											0													97.0	79.0	85.0					16																	1505783		2199	4300	6499	-	-	-	SO:0001583	missense	0			Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ion channels / Chloride channels : Voltage-sensitive"""	2025	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 63"""	602727	"""chloride channel 7"""			8543009	Standard	NM_001114331		Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.930C>G	16.37:g.1505783G>C	ENSP00000372193:p.Phe310Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	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-7	p.F310L	ENST00000382745.4	37	c.930	CCDS32361.1	16	.	.	.	.	.	.	.	.	.	.	G	17.30	3.354916	0.61293	.	.	ENSG00000103249	ENST00000448525;ENST00000262318;ENST00000382745;ENST00000428756	D;D	0.96885	-4.16;-4.16	5.13	4.16	0.48862	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.98830	0.9605	H	0.98426	4.23	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	D	0.98860	1.0762	10	0.87932	D	0	-42.2985	12.7907	0.57533	0.0823:0.0:0.9177:0.0	.	286;310	E9PDB9;P51798	.;CLCN7_HUMAN	L	286;263;310;252	ENSP00000410907:F286L;ENSP00000372193:F310L	ENSP00000262318:F263L	F	-	3	2	CLCN7	1445784	1.000000	0.71417	1.000000	0.80357	0.431000	0.31685	5.296000	0.65698	1.125000	0.41998	0.313000	0.20887	TTC	CLCN7	-	pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated	ENSG00000103249		0.647	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN7	HGNC	protein_coding	OTTHUMT00000103598.2	31	0.00	0	G	NM_001287		1505783	1505783	-1	no_errors	ENST00000382745	ensembl	human	known	69_37n	missense	38	15.56	7	SNP	1.000	C
CLCNKA	1187	genome.wustl.edu	37	1	16349139	16349139	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:16349139G>A	ENST00000331433.4	+	2	44	c.25G>A	c.(25-27)Gag>Aag	p.E9K	CLCNKA_ENST00000375692.1_Missense_Mutation_p.E9K|CLCNKA_ENST00000420078.1_Missense_Mutation_p.E9K|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000439316.2_Missense_Mutation_p.E9K			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	9					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		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;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	GGGGCTGCGTGAGGGCTTCTC	0.662																																						dbGAP											0													48.0	43.0	45.0					1																	16349139		2195	4291	6486	-	-	-	SO:0001583	missense	0				CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"""Ion channels / Chloride channels : Voltage-sensitive"""	2026	protein-coding gene	gene with protein product		602024	"""chloride channel Ka"""			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.25G>A	1.37:g.16349139G>A	ENSP00000332771:p.Glu9Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	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-K	p.E9K	ENST00000331433.4	37	c.25	CCDS167.1	1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.894414	0.52121	.	.	ENSG00000186510	ENST00000375692;ENST00000420078;ENST00000439316;ENST00000331433	D;D;D;D	0.87029	-1.84;-1.84;-2.2;-1.84	4.12	3.15	0.36227	.	0.226096	0.36101	U	0.002794	D	0.91429	0.7295	M	0.78916	2.43	0.23198	N	0.998139	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.997	T	0.82643	-0.0356	10	0.27082	T	0.32	.	9.2702	0.37666	0.0:0.2213:0.7787:0.0	.	9;9;9	E7EPH6;Q5T5Q4;P51800	.;.;CLCKA_HUMAN	K	9	ENSP00000364844:E9K;ENSP00000410353:E9K;ENSP00000414445:E9K;ENSP00000332771:E9K	ENSP00000332771:E9K	E	+	1	0	CLCNKA	16221726	0.872000	0.30054	0.731000	0.30826	0.474000	0.32979	1.767000	0.38501	0.872000	0.35775	0.313000	0.20887	GAG	CLCNKA	-	NULL	ENSG00000186510		0.662	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLCNKA	HGNC	protein_coding	OTTHUMT00000026326.1	48	0.00	0	G			16349139	16349139	+1	no_errors	ENST00000331433	ensembl	human	known	69_37n	missense	64	13.51	10	SNP	0.799	A
CLDN11	5010	genome.wustl.edu	37	3	170150448	170150448	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:170150448C>G	ENST00000064724.3	+	3	730	c.528C>G	c.(526-528)ctC>ctG	p.L176L	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000489485.1_3'UTR|CLDN11_ENST00000451576.1_Intron	NM_005602.5	NP_005593.2	O75508	CLD11_HUMAN	claudin 11	176					axon ensheathment (GO:0008366)|calcium-independent cell-cell adhesion (GO:0016338)|spermatogenesis (GO:0007283)	basal part of cell (GO:0045178)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			central_nervous_system(2)|endometrium(2)|large_intestine(1)|liver(2)|lung(3)|ovary(2)	12	all_cancers(22;5.62e-23)|all_epithelial(15;7.54e-28)|all_lung(20;2.51e-17)|Lung NSC(18;1.02e-16)|Ovarian(172;0.000567)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			GTGTCATCCTCTGCTGCGCTG	0.587																																						dbGAP											0													171.0	156.0	161.0					3																	170150448		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF068863	CCDS3213.1	3q26.2-q26.3	2008-08-01	2008-08-01		ENSG00000013297	ENSG00000013297		"""Claudins"""	8514	protein-coding gene	gene with protein product		601326	"""oligodendrocyte transmembrane protein"""	OTM		8661061, 8797478	Standard	NM_005602		Approved	OSP	uc003fgx.3	O75508	OTTHUMG00000158940	ENST00000064724.3:c.528C>G	3.37:g.170150448C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7C1|D3DNQ5|Q5U0P3	Silent	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin11,prints_Claudin	p.L176	ENST00000064724.3	37	c.528	CCDS3213.1	3																																																																																			CLDN11	-	NULL	ENSG00000013297		0.587	CLDN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN11	HGNC	protein_coding	OTTHUMT00000352403.1	94	0.00	0	C	NM_005602		170150448	170150448	+1	no_errors	ENST00000064724	ensembl	human	known	69_37n	silent	113	16.91	23	SNP	1.000	G
CLDN6	9074	genome.wustl.edu	37	16	3065666	3065666	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:3065666G>A	ENST00000396925.1	-	3	785	c.357C>T	c.(355-357)ctC>ctT	p.L119L	TNFRSF12A_ENST00000573001.1_5'Flank|CLDN6_ENST00000328796.4_Silent_p.L119L|CLDN6_ENST00000572154.1_Intron			P56747	CLD6_HUMAN	claudin 6	119					calcium-independent cell-cell adhesion (GO:0016338)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						TCCCAGAGGTGAGCACCAGGC	0.602																																						dbGAP											0													35.0	34.0	34.0					16																	3065666		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			AJ249735	CCDS10488.1	16p13.3	2008-08-01			ENSG00000184697	ENSG00000184697		"""Claudins"""	2048	protein-coding gene	gene with protein product		615798				9892664, 18234789	Standard	NM_021195		Approved		uc002csu.4	P56747	OTTHUMG00000128999	ENST00000396925.1:c.357C>T	16.37:g.3065666G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQP9|D3DUA5	Silent	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin6	p.L119	ENST00000396925.1	37	c.357	CCDS10488.1	16																																																																																			CLDN6	-	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin	ENSG00000184697		0.602	CLDN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN6	HGNC	protein_coding	OTTHUMT00000250988.1	16	0.00	0	G	NM_021195		3065666	3065666	-1	no_errors	ENST00000328796	ensembl	human	known	69_37n	silent	24	22.58	7	SNP	0.006	A
CLDN8	9073	genome.wustl.edu	37	21	31587872	31587872	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr21:31587872G>A	ENST00000399899.1	-	1	519	c.372C>T	c.(370-372)atC>atT	p.I124I	CLDN8_ENST00000286809.1_Silent_p.I124I	NM_199328.2	NP_955360.1	P56748	CLD8_HUMAN	claudin 8	124					calcium-independent cell-cell adhesion (GO:0016338)	basolateral plasma membrane (GO:0016323)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			NS(1)|endometrium(2)|large_intestine(6)|lung(6)	15						TGATGAAGATGATTCCAGCCG	0.498																																						dbGAP											0													103.0	91.0	95.0					21																	31587872		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ250711	CCDS13587.1	21q22.1	2008-07-31			ENSG00000156284	ENSG00000156284		"""Claudins"""	2050	protein-coding gene	gene with protein product		611231				9892664	Standard	NM_199328		Approved		uc002ynu.2	P56748	OTTHUMG00000081872	ENST00000399899.1:c.372C>T	21.37:g.31587872G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DSE3|Q53EX7	Silent	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin8,prints_Claudin14	p.I124	ENST00000399899.1	37	c.372	CCDS13587.1	21																																																																																			CLDN8	-	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin	ENSG00000156284		0.498	CLDN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN8	HGNC	protein_coding	OTTHUMT00000182260.1	61	0.00	0	G	NM_199328		31587872	31587872	-1	no_errors	ENST00000286809	ensembl	human	known	69_37n	silent	57	50.43	58	SNP	0.060	A
CLDN8	9073	genome.wustl.edu	37	21	31588139	31588139	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr21:31588139G>A	ENST00000399899.1	-	1	252	c.105C>T	c.(103-105)ttC>ttT	p.F35F	CLDN8_ENST00000286809.1_Silent_p.F35F	NM_199328.2	NP_955360.1	P56748	CLD8_HUMAN	claudin 8	35					calcium-independent cell-cell adhesion (GO:0016338)	basolateral plasma membrane (GO:0016323)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			NS(1)|endometrium(2)|large_intestine(6)|lung(6)	15						TGTTTTCAATGAAGGCCGACA	0.483																																						dbGAP											0													89.0	87.0	87.0					21																	31588139		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ250711	CCDS13587.1	21q22.1	2008-07-31			ENSG00000156284	ENSG00000156284		"""Claudins"""	2050	protein-coding gene	gene with protein product		611231				9892664	Standard	NM_199328		Approved		uc002ynu.2	P56748	OTTHUMG00000081872	ENST00000399899.1:c.105C>T	21.37:g.31588139G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DSE3|Q53EX7	Silent	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin8,prints_Claudin14	p.F35	ENST00000399899.1	37	c.105	CCDS13587.1	21																																																																																			CLDN8	-	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin14	ENSG00000156284		0.483	CLDN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN8	HGNC	protein_coding	OTTHUMT00000182260.1	41	0.00	0	G	NM_199328		31588139	31588139	-1	no_errors	ENST00000286809	ensembl	human	known	69_37n	silent	38	15.56	7	SNP	1.000	A
CLDND2	125875	genome.wustl.edu	37	19	51871790	51871790	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:51871790G>A	ENST00000291715.1	-	1	467	c.42C>T	c.(40-42)ctC>ctT	p.L14L	CTD-2616J11.10_ENST00000595500.1_RNA|ETFB_ENST00000309244.4_5'Flank|CLDND2_ENST00000601435.1_Silent_p.L14L|CTD-2616J11.11_ENST00000600067.1_5'Flank	NM_152353.2	NP_689566.1	Q8NHS1	CLDN2_HUMAN	claudin domain containing 2	14						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(2)	4		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CCACGAGGCTGAGCAGAATGC	0.657																																						dbGAP											0													91.0	76.0	81.0					19																	51871790		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC029518	CCDS12829.1	19q13.41	2008-02-05				ENSG00000160318			28511	protein-coding gene	gene with protein product						12477932	Standard	NM_152353		Approved	MGC33839	uc002pwi.1	Q8NHS1		ENST00000291715.1:c.42C>T	19.37:g.51871790G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_PMP22/EMP/MP20/Claudin	p.L14	ENST00000291715.1	37	c.42	CCDS12829.1	19																																																																																			CLDND2	-	pfam_PMP22/EMP/MP20/Claudin	ENSG00000160318		0.657	CLDND2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CLDND2	HGNC	protein_coding	OTTHUMT00000464268.1	36	0.00	0	G	NM_152353		51871790	51871790	-1	no_errors	ENST00000291715	ensembl	human	known	69_37n	silent	34	27.66	13	SNP	0.479	A
CLEC6A	93978	genome.wustl.edu	37	12	8628773	8628773	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:8628773C>T	ENST00000382073.3	+	5	608	c.422C>T	c.(421-423)tCa>tTa	p.S141L		NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN	C-type lectin domain family 6, member A	141	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				defense response to fungus (GO:0050832)|innate immune response (GO:0045087)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					ctggggctttcagacccacaa	0.373																																						dbGAP											0													84.0	85.0	85.0					12																	8628773		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY321309	CCDS31739.1	12p13	2005-09-21	2005-02-09	2005-02-11	ENSG00000205846	ENSG00000205846		"""C-type lectin domain containing"""	14556	protein-coding gene	gene with protein product		613579	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 10"""	CLECSF10			Standard	NM_001007033		Approved	dectin-2	uc001qum.1	Q6EIG7	OTTHUMG00000168672	ENST00000382073.3:c.422C>T	12.37:g.8628773C>T	ENSP00000371505:p.Ser141Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RUK3	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	p.S141L	ENST00000382073.3	37	c.422	CCDS31739.1	12	.	.	.	.	.	.	.	.	.	.	C	11.45	1.643285	0.29246	.	.	ENSG00000205846	ENST00000382073	T	0.19394	2.15	3.06	1.21	0.21127	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.698400	0.11186	N	0.590461	T	0.25680	0.0625	M	0.86178	2.8	0.35953	D	0.834079	P	0.38300	0.626	B	0.36464	0.225	T	0.28004	-1.0057	10	0.45353	T	0.12	.	5.1725	0.15118	0.0:0.7223:0.0:0.2777	.	141	Q6EIG7	CLC6A_HUMAN	L	141	ENSP00000371505:S141L	ENSP00000371505:S141L	S	+	2	0	CLEC6A	8520040	0.956000	0.32656	0.885000	0.34714	0.545000	0.35147	0.306000	0.19279	0.325000	0.23359	0.555000	0.69702	TCA	CLEC6A	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	ENSG00000205846		0.373	CLEC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC6A	HGNC	protein_coding	OTTHUMT00000400562.1	93	0.00	0	C	NM_001007033		8628773	8628773	+1	no_errors	ENST00000382073	ensembl	human	known	69_37n	missense	33	41.07	23	SNP	0.928	T
CLEC2D	29121	genome.wustl.edu	37	12	9840572	9840572	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:9840572C>T	ENST00000290855.6	+	3	269	c.247C>T	c.(247-249)Caa>Taa	p.Q83*	CLEC2D_ENST00000543300.1_Nonsense_Mutation_p.Q83*|CLEC2D_ENST00000261339.6_Nonsense_Mutation_p.Q46*|CLEC2D_ENST00000545918.1_Nonsense_Mutation_p.Q46*|CLEC2D_ENST00000261340.7_Nonsense_Mutation_p.Q83*	NM_013269.5	NP_037401.1	Q9UHP7	CLC2D_HUMAN	C-type lectin domain family 2, member D	83	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|stomach(1)	9						GATTGGTTTTCAAAGAAAGTG	0.373																																						dbGAP											0													81.0	80.0	80.0					12																	9840572		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF133299	CCDS8602.1, CCDS31741.1, CCDS55800.1, CCDS55801.1, CCDS55802.1	12p13.31	2011-05-24	2005-09-29		ENSG00000069493	ENSG00000069493		"""C-type lectin domain containing"""	14351	protein-coding gene	gene with protein product	"""C-type lectin related f"", ""lectin-like transcript 1"""	605659	"""C-type lectin superfamily 2, member D"""				Standard	NM_013269		Approved	LLT1, CLAX, OCIL	uc001qwf.3	Q9UHP7	OTTHUMG00000168369	ENST00000290855.6:c.247C>T	12.37:g.9840572C>T	ENSP00000290855:p.Gln83*	Somatic		WXS	Illumina GAIIx	Phase_IV	D6CI39|D6CI40|D6CI41|Q6YID5|Q8WUP7|Q9HD37|Q9HD38	Nonsense_Mutation	SNP	pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.Q83*	ENST00000290855.6	37	c.247	CCDS8602.1	12	.	.	.	.	.	.	.	.	.	.	C	11.83	1.755326	0.31046	.	.	ENSG00000069493	ENST00000479410;ENST00000261340;ENST00000290855;ENST00000545918;ENST00000543300;ENST00000261339;ENST00000466035;ENST00000430909;ENST00000544322;ENST00000460309	.	.	.	3.82	-1.33	0.09172	.	0.291764	0.18697	U	0.133696	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.9723	9.0241	0.36218	0.1493:0.3186:0.5321:0.0	.	.	.	.	X	41;83;83;46;83;46;40;62;57;26	.	.	Q	+	1	0	CLEC2D	9731839	0.000000	0.05858	0.000000	0.03702	0.114000	0.19823	-1.379000	0.02554	-0.409000	0.07553	-0.687000	0.03738	CAA	CLEC2D	-	pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000069493		0.373	CLEC2D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CLEC2D	HGNC	protein_coding	OTTHUMT00000335424.2	84	0.00	0	C	NM_013269		9840572	9840572	+1	no_errors	ENST00000261340	ensembl	human	known	69_37n	nonsense	28	42.86	21	SNP	0.000	T
CLIC6	54102	genome.wustl.edu	37	21	36081683	36081683	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr21:36081683G>A	ENST00000360731.3	+	6	1800	c.1800G>A	c.(1798-1800)ctG>ctA	p.L600L	CLIC6_ENST00000349499.2_Silent_p.L582L			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	600	GST C-terminal.					chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						TGAAGGCCCTGAGGAAGCTGG	0.453																																						dbGAP											0													116.0	109.0	112.0					21																	36081683		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF426169	CCDS13638.1	21q22.12	2012-09-26			ENSG00000159212	ENSG00000159212		"""Ion channels / Chloride channels : Intracellular"""	2065	protein-coding gene	gene with protein product		615321		CLIC1L		10830953	Standard	NM_053277		Approved	CLIC5	uc002yuf.1	Q96NY7	OTTHUMG00000086237	ENST00000360731.3:c.1800G>A	21.37:g.36081683G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0U8|Q8IX31	Silent	SNP	superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel,tigrfam_Int_Cl_channel	p.L600	ENST00000360731.3	37	c.1800		21																																																																																			CLIC6	-	superfamily_Glutathione-S-Trfase_C-like,tigrfam_Int_Cl_channel	ENSG00000159212		0.453	CLIC6-001	KNOWN	basic|appris_candidate_longest	protein_coding	CLIC6	HGNC	protein_coding	OTTHUMT00000194156.1	95	0.00	0	G			36081683	36081683	+1	no_errors	ENST00000360731	ensembl	human	known	69_37n	silent	77	27.36	29	SNP	1.000	A
CLIP1	6249	genome.wustl.edu	37	12	122757568	122757568	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:122757568C>G	ENST00000540338.1	-	25	4212	c.4171G>C	c.(4171-4173)Gag>Cag	p.E1391Q	CLIP1_ENST00000540539.1_Missense_Mutation_p.E70Q|CLIP1_ENST00000302528.7_Missense_Mutation_p.E1380Q|CLIP1_ENST00000358808.2_Missense_Mutation_p.E1380Q|CLIP1_ENST00000537178.1_Missense_Mutation_p.E1345Q|CLIP1_ENST00000536634.1_5'UTR|CLIP1_ENST00000545889.1_Missense_Mutation_p.E966Q|CLIP1_ENST00000361654.4_Missense_Mutation_p.E1269Q			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1391					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		GGACAATCCTCTGTGTCGTGG	0.488																																						dbGAP											0													185.0	149.0	161.0					12																	122757568		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.4171G>C	12.37:g.122757568C>G	ENSP00000439093:p.Glu1391Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Znf_CCHC,superfamily_Prefoldin,pfscan_CAP-Gly_domain	p.E1391Q	ENST00000540338.1	37	c.4171	CCDS58285.1	12	.	.	.	.	.	.	.	.	.	.	C	26.1	4.701487	0.88924	.	.	ENSG00000130779	ENST00000545889;ENST00000302528;ENST00000358808;ENST00000542885;ENST00000392458;ENST00000537178;ENST00000540539;ENST00000540338	T;T;T;T;T;T	0.14640	2.49;2.49;2.49;2.49;2.49;2.49	5.86	5.86	0.93980	.	0.341997	0.32671	N	0.005786	T	0.44030	0.1274	M	0.81497	2.545	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.33854	-0.9852	10	0.87932	D	0	-24.4756	20.2019	0.98263	0.0:1.0:0.0:0.0	.	1345;1380;1391	P30622-2;P30622-1;P30622	.;.;CLIP1_HUMAN	Q	966;1380;1380;1112;424;1345;70;1391	ENSP00000438743:E966Q;ENSP00000303585:E1380Q;ENSP00000351665:E1380Q;ENSP00000445531:E1345Q;ENSP00000437617:E70Q;ENSP00000439093:E1391Q	ENSP00000303585:E1380Q	E	-	1	0	CLIP1	121323521	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	7.295000	0.78780	2.776000	0.95493	0.655000	0.94253	GAG	CLIP1	-	NULL	ENSG00000130779		0.488	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLIP1	HGNC	protein_coding	OTTHUMT00000401625.1	166	0.00	0	C	NM_002956		122757568	122757568	-1	no_errors	ENST00000540338	ensembl	human	known	69_37n	missense	153	21.54	42	SNP	1.000	G
CLIP1	6249	genome.wustl.edu	37	12	122763577	122763577	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:122763577C>T	ENST00000540338.1	-	21	3804	c.3763G>A	c.(3763-3765)Gag>Aag	p.E1255K	CLIP1_ENST00000540539.1_5'Flank|CLIP1_ENST00000302528.7_Missense_Mutation_p.E1244K|CLIP1_ENST00000358808.2_Missense_Mutation_p.E1244K|CLIP1_ENST00000537178.1_Missense_Mutation_p.E1209K|CLIP1_ENST00000536634.1_5'UTR|CLIP1_ENST00000545889.1_Missense_Mutation_p.E830K|CLIP1_ENST00000361654.4_Missense_Mutation_p.E1133K			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1255					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TACTCTACCTCATTTCTCAGT	0.478																																						dbGAP											0													166.0	153.0	158.0					12																	122763577		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.3763G>A	12.37:g.122763577C>T	ENSP00000439093:p.Glu1255Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Znf_CCHC,superfamily_Prefoldin,pfscan_CAP-Gly_domain	p.E1255K	ENST00000540338.1	37	c.3763	CCDS58285.1	12	.	.	.	.	.	.	.	.	.	.	C	35	5.577066	0.96565	.	.	ENSG00000130779	ENST00000545889;ENST00000302528;ENST00000358808;ENST00000542885;ENST00000392458;ENST00000537178;ENST00000540338	T;T;T;T;T	0.57595	2.41;0.39;0.39;0.4;0.39	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.74427	0.3715	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.997	T	0.69435	-0.5146	10	0.37606	T	0.19	-26.711	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1209;1244;1255	P30622-2;P30622-1;P30622	.;.;CLIP1_HUMAN	K	830;1244;1244;974;286;1209;1255	ENSP00000438743:E830K;ENSP00000303585:E1244K;ENSP00000351665:E1244K;ENSP00000445531:E1209K;ENSP00000439093:E1255K	ENSP00000303585:E1244K	E	-	1	0	CLIP1	121329530	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.402000	0.66332	2.941000	0.99782	0.655000	0.94253	GAG	CLIP1	-	NULL	ENSG00000130779		0.478	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLIP1	HGNC	protein_coding	OTTHUMT00000401625.1	101	0.00	0	C	NM_002956		122763577	122763577	-1	no_errors	ENST00000540338	ensembl	human	known	69_37n	missense	103	18.25	23	SNP	1.000	T
CLIP1	6249	genome.wustl.edu	37	12	122837295	122837295	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:122837295G>C	ENST00000540338.1	-	7	1387	c.1346C>G	c.(1345-1347)tCa>tGa	p.S449*	CLIP1_ENST00000302528.7_Nonsense_Mutation_p.S449*|CLIP1_ENST00000358808.2_Nonsense_Mutation_p.S449*|CLIP1_ENST00000537178.1_Nonsense_Mutation_p.S449*|CLIP1_ENST00000361654.4_Nonsense_Mutation_p.S449*|CLIP1_ENST00000545889.1_Nonsense_Mutation_p.S150*			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	449					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TTTGGTAATTGATTCTTCTTC	0.393																																						dbGAP											0													98.0	94.0	96.0					12																	122837295		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.1346C>G	12.37:g.122837295G>C	ENSP00000439093:p.Ser449*	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVD3|Q17RS4|Q29RG0	Nonsense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Znf_CCHC,superfamily_Prefoldin,pfscan_CAP-Gly_domain	p.S449*	ENST00000540338.1	37	c.1346	CCDS58285.1	12	.	.	.	.	.	.	.	.	.	.	G	39	7.797435	0.98495	.	.	ENSG00000130779	ENST00000545889;ENST00000302528;ENST00000358808;ENST00000542885;ENST00000537178;ENST00000540338;ENST00000540304;ENST00000450731;ENST00000537004	.	.	.	5.63	5.63	0.86233	.	0.058184	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-7.3617	19.7096	0.96089	0.0:0.0:1.0:0.0	.	.	.	.	X	150;449;449;294;449;449;383;34;383	.	ENSP00000303585:S449X	S	-	2	0	CLIP1	121403248	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.643000	0.67895	2.652000	0.90054	0.655000	0.94253	TCA	CLIP1	-	NULL	ENSG00000130779		0.393	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLIP1	HGNC	protein_coding	OTTHUMT00000401625.1	77	0.00	0	G	NM_002956		122837295	122837295	-1	no_errors	ENST00000540338	ensembl	human	known	69_37n	nonsense	80	20.79	21	SNP	1.000	C
CLIP1	6249	genome.wustl.edu	37	12	122862453	122862453	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:122862453G>C	ENST00000540338.1	-	2	181	c.140C>G	c.(139-141)tCa>tGa	p.S47*	CLIP1_ENST00000302528.7_Nonsense_Mutation_p.S47*|CLIP1_ENST00000358808.2_Nonsense_Mutation_p.S47*|CLIP1_ENST00000537178.1_Nonsense_Mutation_p.S47*|CLIP1_ENST00000361654.4_Nonsense_Mutation_p.S47*			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	47					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		AGTCTCAGATGATGGAGTGCT	0.398																																						dbGAP											0													149.0	158.0	155.0					12																	122862453		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.140C>G	12.37:g.122862453G>C	ENSP00000439093:p.Ser47*	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVD3|Q17RS4|Q29RG0	Nonsense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Znf_CCHC,superfamily_Prefoldin,pfscan_CAP-Gly_domain	p.S47*	ENST00000540338.1	37	c.140	CCDS58285.1	12	.	.	.	.	.	.	.	.	.	.	G	18.79	3.699936	0.68501	.	.	ENSG00000130779	ENST00000302528;ENST00000358808;ENST00000537178;ENST00000540338;ENST00000540304;ENST00000537004;ENST00000535290;ENST00000539080	.	.	.	5.68	5.68	0.88126	.	0.434403	0.27270	N	0.020125	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-1.3089	19.791	0.96456	0.0:0.0:1.0:0.0	.	.	.	.	X	47	.	ENSP00000303585:S47X	S	-	2	0	CLIP1	121428406	0.992000	0.36948	0.096000	0.21009	0.376000	0.30014	5.698000	0.68302	2.677000	0.91161	0.491000	0.48974	TCA	CLIP1	-	superfamily_CAP-Gly_domain	ENSG00000130779		0.398	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLIP1	HGNC	protein_coding	OTTHUMT00000401625.1	50	0.00	0	G	NM_002956		122862453	122862453	-1	no_errors	ENST00000540338	ensembl	human	known	69_37n	nonsense	47	20.34	12	SNP	0.092	C
CLK3	1198	genome.wustl.edu	37	15	74911609	74911609	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:74911609G>T	ENST00000395066.3	+	2	977	c.516G>T	c.(514-516)agG>agT	p.R172S	CLK3_ENST00000348245.3_Missense_Mutation_p.R24S|CLK3_ENST00000352989.5_Missense_Mutation_p.R24S|CLK3_ENST00000345005.4_Missense_Mutation_p.R24S	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	172	Arg-rich.				protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	cytoplasmic vesicle (GO:0031410)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						AGAGGAGGAGGTCCTACAGTC	0.582																																					Ovarian(133;694 1754 28950 29027 31859)	dbGAP											0													183.0	163.0	170.0					15																	74911609		2197	4296	6493	-	-	-	SO:0001583	missense	0			L29220	CCDS10265.1, CCDS45304.1	15q24	2008-05-02			ENSG00000179335	ENSG00000179335		"""CDC-like kinases"""	2071	protein-coding gene	gene with protein product		602990				7990150, 9856501	Standard	NM_003992		Approved	clk3	uc010uln.2	P49761	OTTHUMG00000141320	ENST00000395066.3:c.516G>T	15.37:g.74911609G>T	ENSP00000378505:p.Arg172Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DW59|Q53Y48|Q9BRS3|Q9BUJ7	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.R172S	ENST00000395066.3	37	c.516	CCDS45304.1	15	.	.	.	.	.	.	.	.	.	.	G	13.42	2.232364	0.39498	.	.	ENSG00000179335	ENST00000345005;ENST00000395066;ENST00000454830;ENST00000352989;ENST00000348245	T;T	0.57595	0.72;0.39	4.64	2.62	0.31277	.	0.000000	0.64402	D	0.000010	T	0.50171	0.1600	L	0.27053	0.805	0.41698	D	0.989383	D;D;P	0.71674	0.981;0.998;0.945	D;D;P	0.78314	0.966;0.991;0.765	T	0.47995	-0.9073	10	0.23891	T	0.37	.	3.7319	0.08496	0.0983:0.1594:0.5782:0.1641	.	172;172;24	P49761;B3KRI8;G5E959	CLK3_HUMAN;.;.	S	24;24;172;24;24	ENSP00000344112:R24S;ENSP00000323106:R24S	ENSP00000344112:R24S	R	+	3	2	CLK3	72698662	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.107000	0.31110	0.477000	0.27464	-0.345000	0.07892	AGG	CLK3	-	NULL	ENSG00000179335		0.582	CLK3-003	KNOWN	basic|CCDS	protein_coding	CLK3	HGNC	protein_coding	OTTHUMT00000390442.3	51	0.00	0	G			74911609	74911609	+1	no_errors	ENST00000395066	ensembl	human	known	69_37n	missense	63	18.18	14	SNP	1.000	T
CLK4	57396	genome.wustl.edu	37	5	178044393	178044393	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:178044393C>A	ENST00000316308.4	-	4	595	c.427G>T	c.(427-429)Gag>Tag	p.E143*	CLK4_ENST00000522749.1_Intron|RN7SKP70_ENST00000516655.1_RNA	NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	143					protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|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)	all cancers(165;0.235)		TGACCCTCCTCATCATCCTCT	0.413																																						dbGAP											0													126.0	109.0	114.0					5																	178044393		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF294429	CCDS4437.1	5q35	2008-05-02			ENSG00000113240	ENSG00000113240		"""CDC-like kinases"""	13659	protein-coding gene	gene with protein product		607969				11170754	Standard	NM_020666		Approved		uc003mjf.1	Q9HAZ1	OTTHUMG00000130893	ENST00000316308.4:c.427G>T	5.37:g.178044393C>A	ENSP00000316948:p.Glu143*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_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.E143*	ENST00000316308.4	37	c.427	CCDS4437.1	5	.	.	.	.	.	.	.	.	.	.	C	38	7.006594	0.97998	.	.	ENSG00000113240	ENST00000316308;ENST00000536763	.	.	.	5.75	5.75	0.90469	.	0.163822	0.53938	D	0.000060	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	17.4377	0.87557	0.0:1.0:0.0:0.0	.	.	.	.	X	143	.	ENSP00000316948:E143X	E	-	1	0	CLK4	177976999	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.669000	0.83911	2.706000	0.92434	0.561000	0.74099	GAG	CLK4	-	NULL	ENSG00000113240		0.413	CLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLK4	HGNC	protein_coding	OTTHUMT00000253479.2	137	0.00	0	C			178044393	178044393	-1	no_errors	ENST00000316308	ensembl	human	known	69_37n	nonsense	95	20.83	25	SNP	1.000	A
CLP1	10978	genome.wustl.edu	37	11	57428680	57428680	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:57428680C>G	ENST00000302731.4	+	3	978	c.858C>G	c.(856-858)ctC>ctG	p.L286L	CLP1_ENST00000529430.1_Silent_p.L361L|CLP1_ENST00000525602.1_Silent_p.L350L|CLP1_ENST00000533682.1_Silent_p.L350L	NM_001142597.1|NM_006831.2	NP_001136069.1|NP_006822.1	Q5KU26	COL12_HUMAN	cleavage and polyadenylation factor I subunit 1	0					carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|stomach(1)	15						ATAATCAGCTCAAGCTAGTAC	0.488																																						dbGAP											0													152.0	139.0	144.0					11																	57428680		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			BC000446	CCDS7964.1, CCDS44600.1	11q12.1	2012-10-02	2012-10-02		ENSG00000172409	ENSG00000172409	2.7.1.78		16999	protein-coding gene	gene with protein product	"""ATP/GTPbinding protein"", ""polyribonucleotide 5'-hydroxyl-kinase"""	608757	"""CLP1, cleavage and polyadenylation factor I subunit, homolog (S. cerevisiae)"""			8896421, 11060040	Standard	NM_006831		Approved	HEAB, hClp1	uc001nkw.3	Q92989	OTTHUMG00000167146	ENST00000302731.4:c.858C>G	11.37:g.57428680C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Silent	SNP	pfam_Pre-mRNA_cleavage_cplxII_Clp1	p.L350	ENST00000302731.4	37	c.1050	CCDS44600.1	11																																																																																			CLP1	-	pfam_Pre-mRNA_cleavage_cplxII_Clp1	ENSG00000172409		0.488	CLP1-003	NOVEL	basic|exp_conf|CCDS	protein_coding	CLP1	HGNC	protein_coding	OTTHUMT00000393465.1	77	0.00	0	C	NM_006831		57428680	57428680	+1	no_errors	ENST00000525602	ensembl	human	known	69_37n	silent	117	15.22	21	SNP	0.922	G
CLRN1	7401	genome.wustl.edu	37	3	150690291	150690291	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:150690291C>G	ENST00000327047.1	-	1	495	c.205G>C	c.(205-207)Gag>Cag	p.E69Q	CLRN1-AS1_ENST00000476886.1_RNA|RP11-166N6.2_ENST00000469268.1_RNA|CLRN1-AS1_ENST00000465576.1_RNA|CLRN1_ENST00000328863.4_Missense_Mutation_p.E69Q	NM_174878.2	NP_777367.1	P58418	CLRN1_HUMAN	clarin 1	69					actin filament organization (GO:0007015)|auditory receptor cell stereocilium organization (GO:0060088)|cell motility (GO:0048870)|equilibrioception (GO:0050957)|photoreceptor cell maintenance (GO:0045494)|positive regulation of lamellipodium assembly (GO:0010592)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CTCACACCCTCTCCGTGGAAA	0.512																																						dbGAP											0													93.0	80.0	84.0					3																	150690291		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF388366	CCDS3153.1, CCDS35492.1, CCDS56285.1	3q25.1	2014-09-17	2006-11-23	2006-11-23	ENSG00000163646	ENSG00000163646			12605	protein-coding gene	gene with protein product		606397	"""Usher syndrome 3A"""	USH3, USH3A, RP61		7711740, 8975700	Standard	NM_052995		Approved		uc021xfr.1	P58418	OTTHUMG00000140368	ENST00000327047.1:c.205G>C	3.37:g.150690291C>G	ENSP00000322280:p.Glu69Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DNJ3|E1ACU9|Q8N6A9	Missense_Mutation	SNP	NULL	p.E69Q	ENST00000327047.1	37	c.205	CCDS3153.1	3	.	.	.	.	.	.	.	.	.	.	C	10.89	1.478087	0.26511	.	.	ENSG00000163646	ENST00000327047;ENST00000328863	T;T	0.76186	-1.0;-1.0	5.5	4.62	0.57501	.	0.238209	0.42172	N	0.000751	T	0.62011	0.2393	L	0.31294	0.92	0.33195	D	0.55133	B	0.02656	0.0	B	0.06405	0.002	T	0.61584	-0.7033	10	0.12430	T	0.62	-2.8749	15.5908	0.76526	0.0:0.6139:0.3861:0.0	.	69	P58418	CLRN1_HUMAN	Q	69	ENSP00000322280:E69Q;ENSP00000329158:E69Q	ENSP00000322280:E69Q	E	-	1	0	CLRN1	152172981	0.962000	0.33011	1.000000	0.80357	0.984000	0.73092	1.782000	0.38654	1.303000	0.44873	0.561000	0.74099	GAG	CLRN1	-	NULL	ENSG00000163646		0.512	CLRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLRN1	HGNC	protein_coding	OTTHUMT00000277060.1	43	0.00	0	C			150690291	150690291	-1	no_errors	ENST00000328863	ensembl	human	known	69_37n	missense	44	22.81	13	SNP	0.959	G
CLSPN	63967	genome.wustl.edu	37	1	36208788	36208788	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:36208788C>T	ENST00000318121.3	-	18	3154	c.3097G>A	c.(3097-3099)Gat>Aat	p.D1033N	RP11-435D7.3_ENST00000373226.2_RNA|CLSPN_ENST00000251195.5_Missense_Mutation_p.D1033N|CLSPN_ENST00000520551.1_Missense_Mutation_p.D980N|CLSPN_ENST00000373220.3_Missense_Mutation_p.D969N	NM_022111.3	NP_071394.2	Q9HAW4	CLSPN_HUMAN	claspin	1033					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)				TCTTCTTCATCATCATCTTCA	0.373																																						dbGAP											0													199.0	171.0	181.0					1																	36208788		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.3097G>A	1.37:g.36208788C>T	ENSP00000312995:p.Asp1033Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1	Missense_Mutation	SNP	NULL	p.D1033N	ENST00000318121.3	37	c.3097	CCDS396.1	1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.994972	0.74703	.	.	ENSG00000092853	ENST00000251195;ENST00000318121;ENST00000373220;ENST00000520551	T;T;T;T	0.30981	1.51;1.53;1.62;1.59	5.05	5.05	0.67936	.	0.249549	0.40302	N	0.001132	T	0.53562	0.1804	M	0.66939	2.045	0.42395	D	0.992549	D;D	0.76494	0.996;0.999	D;D	0.73708	0.937;0.981	T	0.56823	-0.7915	10	0.72032	D	0.01	-12.1013	15.4983	0.75673	0.0:1.0:0.0:0.0	.	969;1033	Q9HAW4-2;Q9HAW4	.;CLSPN_HUMAN	N	1033;1033;969;980	ENSP00000251195:D1033N;ENSP00000312995:D1033N;ENSP00000362317:D969N;ENSP00000428848:D980N	ENSP00000251195:D1033N	D	-	1	0	CLSPN	35981375	1.000000	0.71417	1.000000	0.80357	0.520000	0.34377	4.027000	0.57239	2.529000	0.85273	0.655000	0.94253	GAT	CLSPN	-	NULL	ENSG00000092853		0.373	CLSPN-005	KNOWN	basic|appris_principal|CCDS	protein_coding	CLSPN	HGNC	protein_coding	OTTHUMT00000377857.1	101	0.00	0	C	NM_022111		36208788	36208788	-1	no_errors	ENST00000318121	ensembl	human	known	69_37n	missense	71	21.11	19	SNP	1.000	T
CLSPN	63967	genome.wustl.edu	37	1	36212416	36212416	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:36212416C>T	ENST00000318121.3	-	15	2862	c.2805G>A	c.(2803-2805)gaG>gaA	p.E935E	CLSPN_ENST00000251195.5_Silent_p.E935E|CLSPN_ENST00000520551.1_Silent_p.E882E|CLSPN_ENST00000373220.3_Silent_p.E871E	NM_022111.3	NP_071394.2	Q9HAW4	CLSPN_HUMAN	claspin	935					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)				CCTCCATGTTCTCTTTCTTGT	0.438																																						dbGAP											0													169.0	155.0	160.0					1																	36212416		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			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.2805G>A	1.37:g.36212416C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1	Silent	SNP	NULL	p.E935	ENST00000318121.3	37	c.2805	CCDS396.1	1																																																																																			CLSPN	-	NULL	ENSG00000092853		0.438	CLSPN-005	KNOWN	basic|appris_principal|CCDS	protein_coding	CLSPN	HGNC	protein_coding	OTTHUMT00000377857.1	182	0.00	0	C	NM_022111		36212416	36212416	-1	no_errors	ENST00000318121	ensembl	human	known	69_37n	silent	114	25.00	38	SNP	0.563	T
CLSTN3	9746	genome.wustl.edu	37	12	7301655	7301655	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:7301655G>A	ENST00000266546.6	+	13	2385	c.1935G>A	c.(1933-1935)ctG>ctA	p.L645L	CLSTN3_ENST00000537408.1_Silent_p.L657L	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	645					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						AGATCCTGCTGAGTGGCACTG	0.562																																						dbGAP											0													84.0	67.0	73.0					12																	7301655		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"""Cadherins / Cadherin-related"""	18371	protein-coding gene	gene with protein product	"""cadherin-related family member 14"""	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.1935G>A	12.37:g.7301655G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DUT6|O94831|Q2T9J5|Q5UE57	Silent	SNP	pfam_Cadherin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L645	ENST00000266546.6	37	c.1935	CCDS8575.1	12																																																																																			CLSTN3	-	NULL	ENSG00000139182		0.562	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLSTN3	HGNC	protein_coding	OTTHUMT00000398560.2	38	0.00	0	G	NM_014718		7301655	7301655	+1	no_errors	ENST00000266546	ensembl	human	known	69_37n	silent	25	39.02	16	SNP	0.998	A
CMYA5	202333	genome.wustl.edu	37	5	79025925	79025925	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:79025925C>G	ENST00000446378.2	+	2	1368	c.1337C>G	c.(1336-1338)tCt>tGt	p.S446C		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	446					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CTGGCAGCATCTACCCAGGAT	0.507																																						dbGAP											0													83.0	84.0	84.0					5																	79025925		2203	4300	6503	-	-	-	SO:0001583	missense	0			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.1337C>G	5.37:g.79025925C>G	ENSP00000394770:p.Ser446Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.S446C	ENST00000446378.2	37	c.1337	CCDS47238.1	5	.	.	.	.	.	.	.	.	.	.	C	9.433	1.086068	0.20390	.	.	ENSG00000164309	ENST00000446378	T	0.46063	0.88	5.68	3.89	0.44902	.	0.458362	0.18753	N	0.132130	T	0.40694	0.1127	L	0.34521	1.04	0.09310	N	1	D	0.71674	0.998	P	0.57324	0.818	T	0.31586	-0.9938	10	0.87932	D	0	.	2.4023	0.04404	0.1466:0.5274:0.1612:0.1647	.	446	Q8N3K9	CMYA5_HUMAN	C	446	ENSP00000394770:S446C	ENSP00000394770:S446C	S	+	2	0	CMYA5	79061681	0.001000	0.12720	0.003000	0.11579	0.016000	0.09150	1.034000	0.30204	1.399000	0.46721	0.557000	0.71058	TCT	CMYA5	-	NULL	ENSG00000164309		0.507	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	21	0.00	0	C	NM_153610		79025925	79025925	+1	no_errors	ENST00000446378	ensembl	human	known	69_37n	missense	26	23.53	8	SNP	0.000	G
CMYA5	202333	genome.wustl.edu	37	5	79028541	79028541	+	Nonsense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:79028541C>G	ENST00000446378.2	+	2	3984	c.3953C>G	c.(3952-3954)tCa>tGa	p.S1318*		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1318					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GTGCTTCATTCAGCTTCCTCA	0.388																																						dbGAP											0													57.0	56.0	57.0					5																	79028541		1900	4117	6017	-	-	-	SO:0001587	stop_gained	0			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.3953C>G	5.37:g.79028541C>G	ENSP00000394770:p.Ser1318*	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Nonsense_Mutation	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.S1318*	ENST00000446378.2	37	c.3953	CCDS47238.1	5	.	.	.	.	.	.	.	.	.	.	C	37	6.069465	0.97256	.	.	ENSG00000164309	ENST00000446378	.	.	.	5.69	2.34	0.29019	.	1.396020	0.04750	N	0.424357	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	5.0161	0.14337	0.1655:0.6171:0.0:0.2175	.	.	.	.	X	1318	.	ENSP00000394770:S1318X	S	+	2	0	CMYA5	79064297	0.000000	0.05858	0.013000	0.15412	0.010000	0.07245	0.231000	0.17872	1.417000	0.47077	0.655000	0.94253	TCA	CMYA5	-	NULL	ENSG00000164309		0.388	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	47	0.00	0	C	NM_153610		79028541	79028541	+1	no_errors	ENST00000446378	ensembl	human	known	69_37n	nonsense	36	16.28	7	SNP	0.001	G
CMYA5	202333	genome.wustl.edu	37	5	79030113	79030113	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:79030113C>G	ENST00000446378.2	+	2	5556	c.5525C>G	c.(5524-5526)tCt>tGt	p.S1842C		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1842					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GTAAGCACCTCTTCTGAAGAT	0.368																																						dbGAP											0													86.0	84.0	84.0					5																	79030113		1829	4096	5925	-	-	-	SO:0001583	missense	0			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.5525C>G	5.37:g.79030113C>G	ENSP00000394770:p.Ser1842Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.S1842C	ENST00000446378.2	37	c.5525	CCDS47238.1	5	.	.	.	.	.	.	.	.	.	.	C	12.67	2.007972	0.35415	.	.	ENSG00000164309	ENST00000446378	T	0.08984	3.03	5.2	5.2	0.72013	.	0.341305	0.22270	N	0.062277	T	0.21347	0.0514	L	0.46157	1.445	0.09310	N	1	D	0.76494	0.999	D	0.65573	0.936	T	0.01524	-1.1333	10	0.87932	D	0	.	14.6325	0.68666	0.0:1.0:0.0:0.0	.	1842	Q8N3K9	CMYA5_HUMAN	C	1842	ENSP00000394770:S1842C	ENSP00000394770:S1842C	S	+	2	0	CMYA5	79065869	0.107000	0.21998	0.133000	0.22050	0.252000	0.25951	3.475000	0.53136	2.601000	0.87937	0.650000	0.86243	TCT	CMYA5	-	NULL	ENSG00000164309		0.368	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	70	0.00	0	C	NM_153610		79030113	79030113	+1	no_errors	ENST00000446378	ensembl	human	known	69_37n	missense	45	16.67	9	SNP	0.061	G
CMYA5	202333	genome.wustl.edu	37	5	79032478	79032478	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:79032478G>C	ENST00000446378.2	+	2	7921	c.7890G>C	c.(7888-7890)gaG>gaC	p.E2630D		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2630					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TTTTGGTGGAGAAAACCAAGA	0.433																																						dbGAP											0													48.0	51.0	50.0					5																	79032478		1827	4077	5904	-	-	-	SO:0001583	missense	0			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.7890G>C	5.37:g.79032478G>C	ENSP00000394770:p.Glu2630Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.E2630D	ENST00000446378.2	37	c.7890	CCDS47238.1	5	.	.	.	.	.	.	.	.	.	.	G	13.86	2.363719	0.41902	.	.	ENSG00000164309	ENST00000446378	T	0.28454	1.61	4.24	-2.93	0.05598	.	.	.	.	.	T	0.40694	0.1127	L	0.52011	1.625	0.09310	N	1	D	0.69078	0.997	D	0.72625	0.978	T	0.31194	-0.9952	9	0.72032	D	0.01	.	4.9554	0.14036	0.6387:0.0:0.1968:0.1645	.	2630	Q8N3K9	CMYA5_HUMAN	D	2630	ENSP00000394770:E2630D	ENSP00000394770:E2630D	E	+	3	2	CMYA5	79068234	0.994000	0.37717	0.520000	0.27837	0.901000	0.52897	0.352000	0.20113	-0.903000	0.03881	-0.379000	0.06801	GAG	CMYA5	-	NULL	ENSG00000164309		0.433	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	64	0.00	0	G	NM_153610		79032478	79032478	+1	no_errors	ENST00000446378	ensembl	human	known	69_37n	missense	44	18.52	10	SNP	0.067	C
CNGA4	1262	genome.wustl.edu	37	11	6262772	6262772	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:6262772G>C	ENST00000379936.2	+	5	1144	c.1029G>C	c.(1027-1029)ctG>ctC	p.L343L	CNGA4_ENST00000533426.1_Silent_p.L112L	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	343					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTCCACTCTGAGCCGGGTGC	0.567																																						dbGAP											0													86.0	85.0	85.0					11																	6262772		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2152	protein-coding gene	gene with protein product		609472	"""cyclic nucleotide gated channel beta 2"""	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.1029G>C	11.37:g.6262772G>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.L343	ENST00000379936.2	37	c.1029	CCDS31408.1	11																																																																																			CNGA4	-	superfamily_cNMP-bd-like	ENSG00000132259		0.567	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNGA4	HGNC	protein_coding	OTTHUMT00000383765.2	26	0.00	0	G	NM_001037329		6262772	6262772	+1	no_errors	ENST00000379936	ensembl	human	known	69_37n	silent	33	40.00	22	SNP	1.000	C
CNGB1	1258	genome.wustl.edu	37	16	57935527	57935527	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:57935527C>T	ENST00000251102.8	-	28	2857	c.2797G>A	c.(2797-2799)Gag>Aag	p.E933K	CNGB1_ENST00000564448.1_Missense_Mutation_p.E927K	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	933					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						AGCTCTGACTCATCTGTGAAC	0.577																																					Colon(156;1293 1853 16336 28962 38659)	dbGAP											0													65.0	65.0	65.0					16																	57935527		2070	4195	6265	-	-	-	SO:0001583	missense	0			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.2797G>A	16.37:g.57935527C>T	ENSP00000251102:p.Glu933Lys	Somatic		WXS	Illumina GAIIx	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.E933K	ENST00000251102.8	37	c.2797	CCDS42169.1	16	.	.	.	.	.	.	.	.	.	.	C	27.4	4.825950	0.90955	.	.	ENSG00000070729	ENST00000251102	D	0.97186	-4.28	4.9	4.9	0.64082	Cyclic nucleotide-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.98626	0.9540	M	0.91300	3.195	0.80722	D	1	D;D	0.63880	0.993;0.978	D;D	0.64506	0.926;0.912	D	0.99804	1.1037	10	0.87932	D	0	.	17.0814	0.86600	0.0:1.0:0.0:0.0	.	305;933	Q14028-2;Q14028	.;CNGB1_HUMAN	K	933	ENSP00000251102:E933K	ENSP00000251102:E933K	E	-	1	0	CNGB1	56493028	1.000000	0.71417	0.966000	0.40874	0.534000	0.34807	7.773000	0.85462	2.256000	0.74724	0.655000	0.94253	GAG	CNGB1	-	superfamily_cNMP-bd-like	ENSG00000070729		0.577	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNGB1	HGNC	protein_coding	OTTHUMT00000337167.2	65	0.00	0	C	NM_001297		57935527	57935527	-1	no_errors	ENST00000251102	ensembl	human	known	69_37n	missense	43	21.82	12	SNP	1.000	T
CNGB3	54714	genome.wustl.edu	37	8	87679184	87679184	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:87679184C>G	ENST00000320005.5	-	6	868	c.821G>C	c.(820-822)aGa>aCa	p.R274T		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	274					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						AAACTGGAGTCTGGGCTGGAT	0.403																																						dbGAP											0													96.0	87.0	90.0					8																	87679184		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.821G>C	8.37:g.87679184C>G	ENSP00000316605:p.Arg274Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JA51|Q9NRE9	Missense_Mutation	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.R274T	ENST00000320005.5	37	c.821	CCDS6244.1	8	.	.	.	.	.	.	.	.	.	.	C	26.8	4.770553	0.90108	.	.	ENSG00000170289	ENST00000320005	T	0.53857	0.6	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.80465	0.4628	M	0.92317	3.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.993;0.996	D	0.84958	0.0875	10	0.87932	D	0	.	19.4973	0.95079	0.0:1.0:0.0:0.0	.	274;274	Q9NQW8-2;Q9NQW8	.;CNGB3_HUMAN	T	274	ENSP00000316605:R274T	ENSP00000316605:R274T	R	-	2	0	CNGB3	87748300	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	7.765000	0.85310	2.608000	0.88229	0.655000	0.94253	AGA	CNGB3	-	NULL	ENSG00000170289		0.403	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNGB3	HGNC	protein_coding	OTTHUMT00000375107.1	86	0.00	0	C	NM_019098		87679184	87679184	-1	no_errors	ENST00000320005	ensembl	human	known	69_37n	missense	90	15.09	16	SNP	1.000	G
CNKSR2	22866	genome.wustl.edu	37	X	21450881	21450881	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:21450881C>T	ENST00000379510.3	+	3	416	c.380C>T	c.(379-381)tCa>tTa	p.S127L	CNKSR2_ENST00000279451.4_Missense_Mutation_p.S127L|CNKSR2_ENST00000425654.2_Missense_Mutation_p.S127L|CNKSR2_ENST00000543067.1_Missense_Mutation_p.S127L	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	127	CRIC. {ECO:0000255|PROSITE- ProRule:PRU00621}.				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)		p.S127*(1)		breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						TTTCTGACCTCAGTTGTGGAT	0.468																																						dbGAP											1	Substitution - Nonsense(1)	lung(1)											122.0	120.0	120.0					X																	21450881		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.380C>T	X.37:g.21450881C>T	ENSP00000368824:p.Ser127Leu	Somatic		WXS	Illumina GAIIx	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.S127L	ENST00000379510.3	37	c.380	CCDS14198.1	X	.	.	.	.	.	.	.	.	.	.	C	21.1	4.093613	0.76756	.	.	ENSG00000149970	ENST00000425654;ENST00000543067;ENST00000279451;ENST00000379510	T;T;T;T	0.20200	2.41;2.19;2.09;2.36	5.22	5.22	0.72569	CRIC domain (1);CRIC domain, Chordata (1);	0.000000	0.85682	D	0.000000	T	0.39835	0.1093	L	0.39898	1.24	0.80722	D	1	D;D;B	0.89917	1.0;0.962;0.115	D;P;B	0.75484	0.986;0.883;0.262	T	0.22695	-1.0209	10	0.66056	D	0.02	-0.4181	17.9983	0.89191	0.0:1.0:0.0:0.0	.	127;127;127	B7ZLJ1;B4DGR4;Q8WXI2	.;.;CNKR2_HUMAN	L	127	ENSP00000397906:S127L;ENSP00000444633:S127L;ENSP00000279451:S127L;ENSP00000368824:S127L	ENSP00000279451:S127L	S	+	2	0	CNKSR2	21360802	1.000000	0.71417	0.807000	0.32361	0.966000	0.64601	7.344000	0.79328	2.184000	0.69523	0.415000	0.27848	TCA	CNKSR2	-	pfam_CRIC_domain_Chordata	ENSG00000149970		0.468	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CNKSR2	HGNC	protein_coding	OTTHUMT00000056019.1	102	0.00	0	C	NM_014927		21450881	21450881	+1	no_errors	ENST00000379510	ensembl	human	known	69_37n	missense	75	27.88	29	SNP	0.995	T
CNKSR2	22866	genome.wustl.edu	37	X	21627213	21627213	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:21627213G>T	ENST00000379510.3	+	20	2206	c.2170G>T	c.(2170-2172)Gaa>Taa	p.E724*	CNKSR2_ENST00000543067.1_Nonsense_Mutation_p.E675*|CNKSR2_ENST00000279451.4_Nonsense_Mutation_p.E724*|CNKSR2_ENST00000425654.2_Nonsense_Mutation_p.E694*	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	724					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						TCCTTATGTGGAAGCAAAACA	0.488																																						dbGAP											0													51.0	51.0	51.0					X																	21627213		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			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.2170G>T	X.37:g.21627213G>T	ENSP00000368824:p.Glu724*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Nonsense_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.E724*	ENST00000379510.3	37	c.2170	CCDS14198.1	X	.	.	.	.	.	.	.	.	.	.	G	39	7.350162	0.98228	.	.	ENSG00000149970	ENST00000425654;ENST00000543067;ENST00000279451;ENST00000379510	.	.	.	5.63	5.63	0.86233	.	0.047188	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-9.0381	18.6499	0.91427	0.0:0.0:1.0:0.0	.	.	.	.	X	694;675;724;724	.	ENSP00000279451:E724X	E	+	1	0	CNKSR2	21537134	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.476000	0.81055	2.348000	0.79779	0.594000	0.82650	GAA	CNKSR2	-	NULL	ENSG00000149970		0.488	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CNKSR2	HGNC	protein_coding	OTTHUMT00000056019.1	35	0.00	0	G	NM_014927		21627213	21627213	+1	no_errors	ENST00000379510	ensembl	human	known	69_37n	nonsense	35	22.22	10	SNP	1.000	T
CNKSR2	22866	genome.wustl.edu	37	X	21667121	21667121	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:21667121G>A	ENST00000379510.3	+	21	2901	c.2865G>A	c.(2863-2865)ctG>ctA	p.L955L	CNKSR2_ENST00000425654.2_Silent_p.L925L	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	955					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						TACACCGGCTGAGAATTCTCA	0.338																																						dbGAP											0													60.0	64.0	63.0					X																	21667121		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			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.2865G>A	X.37:g.21667121G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Silent	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.L955	ENST00000379510.3	37	c.2865	CCDS14198.1	X																																																																																			CNKSR2	-	NULL	ENSG00000149970		0.338	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CNKSR2	HGNC	protein_coding	OTTHUMT00000056019.1	43	0.00	0	G	NM_014927		21667121	21667121	+1	no_errors	ENST00000379510	ensembl	human	known	69_37n	silent	45	16.67	9	SNP	1.000	A
CNKSR2	22866	genome.wustl.edu	37	X	21670583	21670583	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:21670583G>C	ENST00000379510.3	+	22	3085	c.3049G>C	c.(3049-3051)Gat>Cat	p.D1017H	CNKSR2_ENST00000425654.2_Missense_Mutation_p.D987H	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	1017					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)		p.D1017H(1)		breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						TTCTGAAGTAGATGTAATCAC	0.398																																						dbGAP											1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											176.0	149.0	158.0					X																	21670583		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.3049G>C	X.37:g.21670583G>C	ENSP00000368824:p.Asp1017His	Somatic		WXS	Illumina GAIIx	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.D1017H	ENST00000379510.3	37	c.3049	CCDS14198.1	X	.	.	.	.	.	.	.	.	.	.	G	12.28	1.889247	0.33348	.	.	ENSG00000149970	ENST00000425654;ENST00000379510	T;T	0.14516	2.5;2.5	5.8	5.8	0.92144	.	0.127985	0.52532	D	0.000068	T	0.15869	0.0382	L	0.36672	1.1	0.80722	D	1	B;B	0.33448	0.412;0.412	B;B	0.34722	0.188;0.188	T	0.01904	-1.1250	10	0.51188	T	0.08	0.0	19.0114	0.92874	0.0:0.0:1.0:0.0	.	987;1017	B7ZLJ1;Q8WXI2	.;CNKR2_HUMAN	H	987;1017	ENSP00000397906:D987H;ENSP00000368824:D1017H	ENSP00000368824:D1017H	D	+	1	0	CNKSR2	21580504	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.266000	0.51569	2.439000	0.82584	0.544000	0.68410	GAT	CNKSR2	-	NULL	ENSG00000149970		0.398	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CNKSR2	HGNC	protein_coding	OTTHUMT00000056019.1	165	0.00	0	G	NM_014927		21670583	21670583	+1	no_errors	ENST00000379510	ensembl	human	known	69_37n	missense	122	22.78	36	SNP	1.000	C
CNN1	1264	genome.wustl.edu	37	19	11658677	11658677	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:11658677C>T	ENST00000252456.2	+	5	667	c.456C>T	c.(454-456)ttC>ttT	p.F152F	CNN1_ENST00000592923.1_Silent_p.F102F|CNN1_ENST00000535659.2_Silent_p.F102F|CNN1_ENST00000544952.1_Silent_p.F132F	NM_001299.4	NP_001290.2	P51911	CNN1_HUMAN	calponin 1, basic, smooth muscle	152					actomyosin structure organization (GO:0031032)|regulation of smooth muscle contraction (GO:0006940)	cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						AGCGGAAATTCGAGCCGGGGA	0.587																																						dbGAP											0													182.0	123.0	143.0					19																	11658677		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U37019	CCDS12263.1	19p13.2-p13.1	2008-07-16				ENSG00000130176			2155	protein-coding gene	gene with protein product		600806				8526917, 9332369	Standard	XM_005259741		Approved	SMCC, Sm-Calp	uc002msc.1	P51911		ENST00000252456.2:c.456C>T	19.37:g.11658677C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R868|B4DUX6|O00638|Q15416|Q8IY93|Q99438	Nonsense_Mutation	SNP	pfam_Calponin_repeat,pfam_CH-domain,superfamily_CH-domain,pfscan_Calponin_repeat,prints_SM22_calponin,prints_Calponin	p.R80*	ENST00000252456.2	37	c.238	CCDS12263.1	19																																																																																			CNN1	-	superfamily_CH-domain,prints_SM22_calponin	ENSG00000130176		0.587	CNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNN1	HGNC	protein_coding	OTTHUMT00000458854.1	53	0.00	0	C	NM_001299		11658677	11658677	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000586577	ensembl	human	putative	69_37n	nonsense	50	31.51	23	SNP	1.000	T
CNN1	1264	genome.wustl.edu	37	19	11660373	11660373	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:11660373G>A	ENST00000252456.2	+	7	868	c.657G>A	c.(655-657)atG>atA	p.M219I	CNN1_ENST00000592923.1_Missense_Mutation_p.M169I|CNN1_ENST00000535659.2_Missense_Mutation_p.M169I|CNN1_ENST00000544952.1_Missense_Mutation_p.M199I	NM_001299.4	NP_001290.2	P51911	CNN1_HUMAN	calponin 1, basic, smooth muscle	219					actomyosin structure organization (GO:0031032)|regulation of smooth muscle contraction (GO:0006940)	cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						AGGCTGGCATGACTGCGCCAG	0.692																																						dbGAP											0													25.0	26.0	25.0					19																	11660373		2203	4299	6502	-	-	-	SO:0001583	missense	0			U37019	CCDS12263.1	19p13.2-p13.1	2008-07-16				ENSG00000130176			2155	protein-coding gene	gene with protein product		600806				8526917, 9332369	Standard	XM_005259741		Approved	SMCC, Sm-Calp	uc002msc.1	P51911		ENST00000252456.2:c.657G>A	19.37:g.11660373G>A	ENSP00000252456:p.Met219Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R868|B4DUX6|O00638|Q15416|Q8IY93|Q99438	Missense_Mutation	SNP	pfam_Calponin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,pfscan_Calponin_repeat,prints_SM22_calponin,prints_Calponin	p.M219I	ENST00000252456.2	37	c.657	CCDS12263.1	19	.	.	.	.	.	.	.	.	.	.	G	17.10	3.302336	0.60195	.	.	ENSG00000130176	ENST00000252456;ENST00000535659;ENST00000544952	T;T;T	0.56611	0.45;0.45;0.45	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.53867	0.1823	M	0.74258	2.255	0.58432	D	0.999997	P	0.38300	0.626	B	0.34489	0.184	T	0.64728	-0.6339	10	0.87932	D	0	-59.8194	16.5154	0.84299	0.0:0.0:1.0:0.0	.	219	P51911	CNN1_HUMAN	I	219;169;199	ENSP00000252456:M219I;ENSP00000442031:M169I;ENSP00000437470:M199I	ENSP00000252456:M219I	M	+	3	0	CNN1	11521373	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	9.079000	0.94032	2.442000	0.82660	0.471000	0.43371	ATG	CNN1	-	pfam_Calponin_repeat,pfscan_Calponin_repeat	ENSG00000130176		0.692	CNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNN1	HGNC	protein_coding	OTTHUMT00000458854.1	18	0.00	0	G	NM_001299		11660373	11660373	+1	no_errors	ENST00000252456	ensembl	human	known	69_37n	missense	10	41.18	7	SNP	1.000	A
CNNM1	26507	genome.wustl.edu	37	10	101090509	101090509	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:101090509G>A	ENST00000356713.4	+	1	1654	c.1365G>A	c.(1363-1365)gaG>gaA	p.E455E	CNNM1_ENST00000446890.1_Silent_p.E384E|CNNM1_ENST00000370534.4_Silent_p.E90E|CNNM1_ENST00000370528.3_Silent_p.E384E	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1	455	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		CTGTCTCCGAGATCCTGCGCA	0.592																																						dbGAP											0													75.0	62.0	66.0					10																	101090509		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF169226	CCDS7478.2	10q24.2	2014-08-08	2014-08-07		ENSG00000119946	ENSG00000119946			102	protein-coding gene	gene with protein product		607802	"""cyclin M1"""	ACDP1		21393841	Standard	NM_020348		Approved		uc001kpp.4	Q9NRU3	OTTHUMG00000018881	ENST00000356713.4:c.1365G>A	10.37:g.101090509G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45	Silent	SNP	pfam_DUF21,pfam_Cysta_beta_synth_core	p.E455	ENST00000356713.4	37	c.1365	CCDS7478.2	10																																																																																			CNNM1	-	NULL	ENSG00000119946		0.592	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNNM1	HGNC	protein_coding	OTTHUMT00000049792.2	36	0.00	0	G	NM_020348		101090509	101090509	+1	no_errors	ENST00000356713	ensembl	human	known	69_37n	silent	22	35.29	12	SNP	1.000	A
CNOT10	25904	genome.wustl.edu	37	3	32769303	32769303	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:32769303C>G	ENST00000328834.5	+	10	1472	c.1156C>G	c.(1156-1158)Cat>Gat	p.H386D	CNOT10_ENST00000331889.6_Missense_Mutation_p.H386D|CNOT10-AS1_ENST00000475395.2_RNA|CNOT10_ENST00000538368.1_Missense_Mutation_p.H158D|CNOT10_ENST00000454516.2_Missense_Mutation_p.H446D	NM_015442.2	NP_056257.1	Q9H9A5	CNO10_HUMAN	CCR4-NOT transcription complex, subunit 10	386					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						TCAGGTTTATCATGCAAATCC	0.463																																						dbGAP											0													112.0	102.0	105.0					3																	32769303		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC002928	CCDS2655.1, CCDS58821.1, CCDS58822.1	3p23	2013-01-10			ENSG00000182973	ENSG00000182973		"""Tetratricopeptide (TTC) repeat domain containing"""	23817	protein-coding gene	gene with protein product							Standard	NR_046352		Approved	FLJ12890, FLJ13165	uc011axj.2	Q9H9A5	OTTHUMG00000130748	ENST00000328834.5:c.1156C>G	3.37:g.32769303C>G	ENSP00000330060:p.His386Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z7L1|F8WAF2|Q9BU30|Q9H5J7|Q9H8X1|Q9H9W0|Q9HAH3|Q9UFJ2	Missense_Mutation	SNP	pfam_TPR-1,smart_TPR_repeat	p.H446D	ENST00000328834.5	37	c.1336	CCDS2655.1	3	.	.	.	.	.	.	.	.	.	.	.	32	5.133430	0.94517	.	.	ENSG00000182973	ENST00000331889;ENST00000328834;ENST00000540405;ENST00000538368;ENST00000454516	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	5.36	5.36	0.76844	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.81959	0.4933	M	0.78049	2.395	0.80722	D	1	D;D;D;D	0.71674	0.993;0.998;0.991;0.979	P;D;P;P	0.66351	0.84;0.943;0.851;0.747	D	0.83388	0.0016	10	0.56958	D	0.05	-21.8896	19.0763	0.93163	0.0:1.0:0.0:0.0	.	446;386;385;386	F8WAF2;Q9H9A5-3;Q9H9A5-2;Q9H9A5	.;.;.;CNOTA_HUMAN	D	386;386;286;158;446	ENSP00000329376:H386D;ENSP00000330060:H386D;ENSP00000442552:H158D;ENSP00000399862:H446D	ENSP00000330060:H386D	H	+	1	0	CNOT10	32744307	1.000000	0.71417	0.838000	0.33150	0.997000	0.91878	7.440000	0.80464	2.496000	0.84212	0.491000	0.48974	CAT	CNOT10	-	smart_TPR_repeat	ENSG00000182973		0.463	CNOT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNOT10	HGNC	protein_coding	OTTHUMT00000253248.2	84	0.00	0	C	NM_015442		32769303	32769303	+1	no_errors	ENST00000454516	ensembl	human	known	69_37n	missense	74	14.94	13	SNP	1.000	G
CNOT2	4848	genome.wustl.edu	37	12	70704703	70704703	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:70704703G>T	ENST00000418359.3	+	4	528	c.77G>T	c.(76-78)aGa>aTa	p.R26I	CNOT2_ENST00000229195.3_Missense_Mutation_p.R26I	NM_001199302.1	NP_001186231.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	26					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription corepressor binding (GO:0001226)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			GGTGCTTCAAGAAAGAAGTTT	0.388																																						dbGAP											0													85.0	85.0	85.0					12																	70704703		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF180473	CCDS31857.1	12q15	2008-05-14				ENSG00000111596			7878	protein-coding gene	gene with protein product		604909		NOT2		10637334	Standard	NM_014515		Approved	CDC36, NOT2H	uc001svv.3	Q9NZN8		ENST00000418359.3:c.77G>T	12.37:g.70704703G>T	ENSP00000412091:p.Arg26Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H3E0|Q9NSX5|Q9NWR6|Q9P028	Missense_Mutation	SNP	pfam_NOT	p.R26I	ENST00000418359.3	37	c.77	CCDS31857.1	12	.	.	.	.	.	.	.	.	.	.	G	36	5.645628	0.96704	.	.	ENSG00000111596	ENST00000552231;ENST00000229195;ENST00000418359;ENST00000550160;ENST00000551132;ENST00000552915;ENST00000552483;ENST00000550641;ENST00000548159;ENST00000549750;ENST00000551043;ENST00000547867;ENST00000550194	T;T;T;T	0.55588	0.51;0.51;0.54;0.51	6.14	6.14	0.99180	.	0.040882	0.85682	D	0.000000	T	0.66096	0.2755	L	0.32530	0.975	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.65681	-0.6109	10	0.72032	D	0.01	-9.2873	20.819	0.99723	0.0:0.0:1.0:0.0	.	26	Q9NZN8	CNOT2_HUMAN	I	26;26;26;26;6;26;17;6;17;26;26;17;26	ENSP00000229195:R26I;ENSP00000412091:R26I;ENSP00000449659:R17I;ENSP00000449260:R26I	ENSP00000229195:R26I	R	+	2	0	CNOT2	68990970	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.466000	0.97665	2.927000	0.99377	0.637000	0.83480	AGA	CNOT2	-	NULL	ENSG00000111596		0.388	CNOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNOT2	HGNC	protein_coding	OTTHUMT00000404260.1	102	0.00	0	G			70704703	70704703	+1	no_errors	ENST00000229195	ensembl	human	known	69_37n	missense	84	15.15	15	SNP	1.000	T
CNOT2	4848	genome.wustl.edu	37	12	70747692	70747692	+	Missense_Mutation	SNP	C	C	G	rs1433370		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:70747692C>G	ENST00000418359.3	+	17	2071	c.1620C>G	c.(1618-1620)ttC>ttG	p.F540L	CNOT2_ENST00000551483.1_Missense_Mutation_p.F191L|CNOT2_ENST00000229195.3_Missense_Mutation_p.F540L	NM_001199302.1	NP_001186231.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	540	Repressor domain.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription corepressor binding (GO:0001226)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			AGCAAGCCTTCTaaaaaaaaa	0.398																																						dbGAP											0													39.0	44.0	42.0					12																	70747692		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF180473	CCDS31857.1	12q15	2008-05-14				ENSG00000111596			7878	protein-coding gene	gene with protein product		604909		NOT2		10637334	Standard	NM_014515		Approved	CDC36, NOT2H	uc001svv.3	Q9NZN8		ENST00000418359.3:c.1620C>G	12.37:g.70747692C>G	ENSP00000412091:p.Phe540Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H3E0|Q9NSX5|Q9NWR6|Q9P028	Missense_Mutation	SNP	pfam_NOT	p.F540L	ENST00000418359.3	37	c.1620	CCDS31857.1	12	.	.	.	.	.	.	.	.	.	.	C	22.4	4.288886	0.80914	.	.	ENSG00000111596	ENST00000229195;ENST00000418359;ENST00000548159;ENST00000551043;ENST00000551483	T;T;T;T;T	0.53640	0.61;0.61;0.68;0.61;1.05	5.84	4.96	0.65561	.	0.042515	0.85682	N	0.000000	T	0.47266	0.1436	N	0.08118	0	0.58432	D	0.999997	P	0.52842	0.956	P	0.62184	0.899	T	0.59096	-0.7518	10	0.87932	D	0	.	15.0562	0.71915	0.0:0.932:0.0:0.068	.	540	Q9NZN8	CNOT2_HUMAN	L	540;540;531;540;191	ENSP00000229195:F540L;ENSP00000412091:F540L;ENSP00000449659:F531L;ENSP00000449260:F540L;ENSP00000448883:F191L	ENSP00000229195:F540L	F	+	3	2	CNOT2	69033959	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.059000	0.71133	1.470000	0.48102	0.655000	0.94253	TTC	CNOT2	-	NULL	ENSG00000111596		0.398	CNOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNOT2	HGNC	protein_coding	OTTHUMT00000404260.1	29	0.00	0	C			70747692	70747692	+1	no_errors	ENST00000229195	ensembl	human	known	69_37n	missense	9	48.94	23	SNP	1.000	G
CNOT3	4849	genome.wustl.edu	37	19	54649325	54649325	+	Intron	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:54649325C>T	ENST00000406403.1	+	7	2086				CNOT3_ENST00000358389.3_Intron|CNOT3_ENST00000221232.5_Intron			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3						gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCCCTGGGCTCGCCAGCAGAA	0.642																																						dbGAP											0													48.0	38.0	42.0					19																	54649325		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.484-9C>T	19.37:g.54649325C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NZN7|Q9UF76	Missense_Mutation	SNP	pfam_Not_N	p.R96C	ENST00000406403.1	37	c.286	CCDS12880.1	19																																																																																			CNOT3	-	NULL	ENSG00000088038		0.642	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CNOT3	HGNC	protein_coding	OTTHUMT00000142130.3	21	0.00	0	C	NM_014516		54649325	54649325	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000447684	ensembl	human	known	69_37n	missense	29	19.44	7	SNP	1.000	T
CNOT6	57472	genome.wustl.edu	37	5	179996148	179996148	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:179996148C>G	ENST00000393356.1	+	12	1490	c.1066C>G	c.(1066-1068)Ctt>Gtt	p.L356V	CNOT6_ENST00000261951.4_Missense_Mutation_p.L356V			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	356	Nuclease domain. {ECO:0000250}.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of ligand-dependent nuclear receptor transcription coactivator activity (GO:2000327)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	exoribonuclease activity (GO:0004532)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)	p.L356I(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		ACAACTTATTCTTGTGGCTAA	0.398																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											74.0	73.0	73.0					5																	179996148		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033020	CCDS4455.1	5q35.3	2014-06-17			ENSG00000113300	ENSG00000113300			14099	protein-coding gene	gene with protein product		608951				11889047	Standard	XM_005265953		Approved	CCR4, KIAA1194, Ccr4a	uc003mlx.3	Q9ULM6	OTTHUMG00000130935	ENST00000393356.1:c.1066C>G	5.37:g.179996148C>G	ENSP00000377024:p.Leu356Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MD46|D3DWR0	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,pfam_Leu-rich_rpt,superfamily_Endo/exonuclease/phosphatase,smart_Leu-rich_rpt_typical-subtyp	p.L356V	ENST00000393356.1	37	c.1066	CCDS4455.1	5	.	.	.	.	.	.	.	.	.	.	C	8.082	0.772704	0.16051	.	.	ENSG00000113300	ENST00000261951;ENST00000393356	T;T	0.81078	-1.45;-1.45	6.04	6.04	0.98038	Endonuclease/exonuclease/phosphatase (2);	0.060511	0.64402	D	0.000002	T	0.75576	0.3868	L	0.39898	1.24	0.80722	D	1	B	0.26672	0.156	B	0.32583	0.148	T	0.69064	-0.5244	9	.	.	.	-10.7688	15.3271	0.74172	0.1397:0.8603:0.0:0.0	.	356	Q9ULM6	CNOT6_HUMAN	V	356	ENSP00000261951:L356V;ENSP00000377024:L356V	.	L	+	1	0	CNOT6	179928754	1.000000	0.71417	0.972000	0.41901	0.022000	0.10575	3.108000	0.50337	2.873000	0.98535	0.563000	0.77884	CTT	CNOT6	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	ENSG00000113300		0.398	CNOT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNOT6	HGNC	protein_coding	OTTHUMT00000253532.1	49	0.00	0	C	NM_015455		179996148	179996148	+1	no_errors	ENST00000261951	ensembl	human	known	69_37n	missense	40	23.08	12	SNP	1.000	G
CNOT6	57472	genome.wustl.edu	37	5	179996254	179996254	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:179996254C>T	ENST00000393356.1	+	12	1596	c.1172C>T	c.(1171-1173)tCt>tTt	p.S391F	CNOT6_ENST00000261951.4_Missense_Mutation_p.S391F			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	391	Nuclease domain. {ECO:0000250}.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of ligand-dependent nuclear receptor transcription coactivator activity (GO:2000327)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	exoribonuclease activity (GO:0004532)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		GATAAAGCCTCTCGCAACCTC	0.403																																						dbGAP											0													141.0	138.0	139.0					5																	179996254		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033020	CCDS4455.1	5q35.3	2014-06-17			ENSG00000113300	ENSG00000113300			14099	protein-coding gene	gene with protein product		608951				11889047	Standard	XM_005265953		Approved	CCR4, KIAA1194, Ccr4a	uc003mlx.3	Q9ULM6	OTTHUMG00000130935	ENST00000393356.1:c.1172C>T	5.37:g.179996254C>T	ENSP00000377024:p.Ser391Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MD46|D3DWR0	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,pfam_Leu-rich_rpt,superfamily_Endo/exonuclease/phosphatase,smart_Leu-rich_rpt_typical-subtyp	p.S391F	ENST00000393356.1	37	c.1172	CCDS4455.1	5	.	.	.	.	.	.	.	.	.	.	C	22.0	4.234790	0.79800	.	.	ENSG00000113300	ENST00000261951;ENST00000393356	T;T	0.80566	-1.39;-1.39	5.86	4.99	0.66335	Endonuclease/exonuclease/phosphatase (2);	0.227947	0.45867	D	0.000327	D	0.83294	0.5223	M	0.73372	2.23	0.58432	D	0.999999	P	0.45531	0.86	P	0.47705	0.555	D	0.83404	0.0024	9	.	.	.	-12.1522	14.7325	0.69393	0.0:0.9311:0.0:0.0689	.	391	Q9ULM6	CNOT6_HUMAN	F	391	ENSP00000261951:S391F;ENSP00000377024:S391F	.	S	+	2	0	CNOT6	179928860	1.000000	0.71417	0.879000	0.34478	0.981000	0.71138	5.999000	0.70665	1.485000	0.48380	0.563000	0.77884	TCT	CNOT6	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	ENSG00000113300		0.403	CNOT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNOT6	HGNC	protein_coding	OTTHUMT00000253532.1	77	0.00	0	C	NM_015455		179996254	179996254	+1	no_errors	ENST00000261951	ensembl	human	known	69_37n	missense	50	24.24	16	SNP	1.000	T
CNPY2	10330	genome.wustl.edu	37	12	56708926	56708926	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:56708926G>C	ENST00000273308.4	-	2	616	c.76C>G	c.(76-78)Ctc>Gtc	p.L26V	RP11-977G19.10_ENST00000549318.1_Missense_Mutation_p.L26V|RP11-977G19.11_ENST00000549565.1_RNA|PAN2_ENST00000549090.1_5'Flank|RP11-977G19.11_ENST00000549860.1_RNA|CNPY2_ENST00000551720.1_5'UTR	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN	canopy FGF signaling regulator 2	26	Saposin B-type. {ECO:0000255|PROSITE- ProRule:PRU00415}.				negative regulation of gene expression (GO:0010629)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of low-density lipoprotein particle clearance (GO:0010988)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)				large_intestine(2)|lung(2)	4						CCACAGTGGAGATCCTGGCTC	0.587																																						dbGAP											0													58.0	61.0	60.0					12																	56708926		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB015631	CCDS8914.1	12q15	2013-07-23	2013-07-23	2007-10-22		ENSG00000257727			13529	protein-coding gene	gene with protein product		605861	"""transmembrane protein 4"", ""canopy 2 homolog (zebrafish)"""	TMEM4		10072769, 15905959	Standard	NM_001190991		Approved	HP10390, ZSIG9, Cnpy2	uc001sku.2	Q9Y2B0	OTTHUMG00000170330	ENST00000273308.4:c.76C>G	12.37:g.56708926G>C	ENSP00000273308:p.Leu26Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7B9|Q9UHE9	Missense_Mutation	SNP	pfam_DUF3456,superfamily_Saposin-like,pfscan_SaposinB	p.L26V	ENST00000273308.4	37	c.76	CCDS8914.1	12	.	.	.	.	.	.	.	.	.	.	G	13.03	2.114433	0.37339	.	.	ENSG00000144785;ENSG00000144785;ENSG00000144785;ENSG00000257727;ENSG00000257727	ENST00000549318;ENST00000547423;ENST00000548360;ENST00000273308;ENST00000551475	T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3	5.17	4.28	0.50868	Saposin B (1);	0.235291	0.38005	N	0.001842	T	0.18257	0.0438	N	0.16368	0.405	0.39935	D	0.974335	B;B	0.31705	0.336;0.043	B;B	0.27796	0.083;0.022	T	0.08638	-1.0712	10	0.12430	T	0.62	-8.403	8.905	0.35519	0.0803:0.1495:0.7701:0.0	.	26;26	Q9Y2B0-2;Q9Y2B0	.;CNPY2_HUMAN	V	26	ENSP00000446743:L26V;ENSP00000446506:L26V;ENSP00000447042:L26V;ENSP00000273308:L26V;ENSP00000448809:L26V	ENSP00000273308:L26V	L	-	1	0	RP11-977G19.10;CNPY2	54995193	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.675000	0.61619	1.570000	0.49709	0.655000	0.94253	CTC	CNPY2	-	pfam_DUF3456,superfamily_Saposin-like,pfscan_SaposinB	ENSG00000257727		0.587	CNPY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNPY2	HGNC	protein_coding	OTTHUMT00000408546.1	56	0.00	0	G	NM_014255		56708926	56708926	-1	no_errors	ENST00000273308	ensembl	human	known	69_37n	missense	71	17.44	15	SNP	1.000	C
CNRIP1	25927	genome.wustl.edu	37	2	68544272	68544272	+	Intron	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:68544272C>T	ENST00000263655.3	-	2	936				CNRIP1_ENST00000409862.1_Missense_Mutation_p.G116E|CNRIP1_ENST00000409559.3_Intron|CNRIP1_ENST00000481714.1_Intron	NM_015463.2	NP_056278.1	Q96F85	CNRP1_HUMAN	cannabinoid receptor interacting protein 1											kidney(1)|large_intestine(5)|liver(1)|lung(1)|skin(1)	9						ACTCCTATACCCGCAAGCAAG	0.463																																						dbGAP											0													156.0	139.0	145.0					2																	68544272		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AL110235	CCDS1886.1, CCDS46311.1	2p13	2008-02-05	2007-11-29	2007-11-29	ENSG00000119865	ENSG00000119865			24546	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 32"""	C2orf32		12477932	Standard	NM_015463		Approved	DKFZP566K1924, CRIP1, CRIP1a, CRIP1b	uc002sek.4	Q96F85	OTTHUMG00000129565	ENST00000263655.3:c.330+16G>A	2.37:g.68544272C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R4D0|Q49AN4|Q9UFZ0	Missense_Mutation	SNP	NULL	p.G116E	ENST00000263655.3	37	c.347	CCDS1886.1	2	.	.	.	.	.	.	.	.	.	.	C	11.44	1.639532	0.29157	.	.	ENSG00000119865	ENST00000409862	.	.	.	4.85	-2.83	0.05769	.	.	.	.	.	T	0.14527	0.0351	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.35226	-0.9797	7	0.08179	T	0.78	.	7.3123	0.26481	0.0:0.4903:0.1088:0.4009	.	116	B8ZZB8	.	E	116	.	ENSP00000386544:G116E	G	-	2	0	CNRIP1	68397776	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.165000	0.03132	-0.454000	0.07066	-0.142000	0.14014	GGG	CNRIP1	-	NULL	ENSG00000119865		0.463	CNRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNRIP1	HGNC	protein_coding	OTTHUMT00000251758.1	71	0.00	0	C	NM_015463		68544272	68544272	-1	no_errors	ENST00000409862	ensembl	human	putative	69_37n	missense	68	15.00	12	SNP	0.000	T
CNST	163882	genome.wustl.edu	37	1	246811202	246811202	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:246811202G>C	ENST00000366513.4	+	9	1968	c.1699G>C	c.(1699-1701)Gat>Cat	p.D567H	CNST_ENST00000366512.3_Missense_Mutation_p.D567H|CNST_ENST00000483271.1_3'UTR	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	567					negative regulation of phosphatase activity (GO:0010923)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	connexin binding (GO:0071253)|phosphatase binding (GO:0019902)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						TTCCTATGAAGATAACCAAGA	0.418																																						dbGAP											0													143.0	149.0	147.0					1																	246811202		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK056563	CCDS1628.1, CCDS44343.1	1q44	2012-04-17	2009-11-03	2009-11-03	ENSG00000162852	ENSG00000162852		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26486	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 64"""	613439	"""chromosome 1 open reading frame 71"""	C1orf71		19864490	Standard	NM_152609		Approved	FLJ32001, PPP1R64	uc001ibp.3	Q6PJW8	OTTHUMG00000040090	ENST00000366513.4:c.1699G>C	1.37:g.246811202G>C	ENSP00000355470:p.Asp567His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VSY9|Q5VTM7|Q8IYA9|Q8N3L5|Q8NB09|Q8TEI2|Q96MR5	Missense_Mutation	SNP	NULL	p.D567H	ENST00000366513.4	37	c.1699	CCDS1628.1	1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.217626	0.39201	.	.	ENSG00000162852	ENST00000366513;ENST00000366512	T;T	0.20738	2.05;2.05	5.5	4.58	0.56647	.	0.465133	0.21643	N	0.071311	T	0.41026	0.1141	M	0.66939	2.045	0.47341	D	0.999395	D;D	0.65815	0.995;0.995	P;P	0.60415	0.874;0.874	T	0.33854	-0.9852	10	0.66056	D	0.02	-10.4042	14.0974	0.65032	0.0735:0.0:0.9265:0.0	.	567;567	Q6PJW8;Q6PJW8-2	CNST_HUMAN;.	H	567	ENSP00000355470:D567H;ENSP00000355469:D567H	ENSP00000355469:D567H	D	+	1	0	CNST	244877825	0.806000	0.28996	0.481000	0.27354	0.228000	0.25075	3.495000	0.53280	1.435000	0.47434	0.467000	0.42956	GAT	CNST	-	NULL	ENSG00000162852		0.418	CNST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNST	HGNC	protein_coding	OTTHUMT00000096780.1	38	0.00	0	G	NM_152609		246811202	246811202	+1	no_errors	ENST00000366513	ensembl	human	known	69_37n	missense	46	36.11	26	SNP	0.043	C
CNTN1	1272	genome.wustl.edu	37	12	41422923	41422923	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:41422923C>T	ENST00000551295.2	+	23	2999	c.2882C>T	c.(2881-2883)tCc>tTc	p.S961F	CNTN1_ENST00000348761.2_Missense_Mutation_p.S950F|CNTN1_ENST00000347616.1_Missense_Mutation_p.S961F	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	961	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CACAAACACTCCATAGAAGTC	0.438																																						dbGAP											0													182.0	170.0	174.0					12																	41422923		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.2882C>T	12.37:g.41422923C>T	ENSP00000447006:p.Ser961Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.S961F	ENST00000551295.2	37	c.2882	CCDS8737.1	12	.	.	.	.	.	.	.	.	.	.	C	13.59	2.282431	0.40394	.	.	ENSG00000018236	ENST00000551295;ENST00000347616;ENST00000348761	T;T;T	0.52526	0.66;0.66;0.66	5.18	4.3	0.51218	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.278787	0.35525	N	0.003160	T	0.37571	0.1008	L	0.49126	1.545	0.80722	D	1	B;B	0.13145	0.007;0.004	B;B	0.14578	0.011;0.005	T	0.15206	-1.0445	10	0.08381	T	0.77	.	11.164	0.48533	0.0:0.8509:0.0:0.1491	.	950;961	Q12860-2;Q12860	.;CNTN1_HUMAN	F	961;961;950	ENSP00000447006:S961F;ENSP00000325660:S961F;ENSP00000261160:S950F	ENSP00000325660:S961F	S	+	2	0	CNTN1	39709190	0.986000	0.35501	1.000000	0.80357	0.927000	0.56198	1.479000	0.35453	1.333000	0.45449	0.591000	0.81541	TCC	CNTN1	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000018236		0.438	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN1	HGNC	protein_coding	OTTHUMT00000403692.2	89	0.00	0	C	NM_001843		41422923	41422923	+1	no_errors	ENST00000347616	ensembl	human	known	69_37n	missense	64	21.95	18	SNP	1.000	T
CNTN6	27255	genome.wustl.edu	37	3	1418739	1418739	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:1418739G>C	ENST00000446702.2	+	17	2773	c.2146G>C	c.(2146-2148)Gaa>Caa	p.E716Q	CNTN6_ENST00000350110.2_Missense_Mutation_p.E716Q|CNTN6_ENST00000539053.1_Missense_Mutation_p.E644Q			Q9UQ52	CNTN6_HUMAN	contactin 6	716	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AAGTCGGTCTGAACTCGTCAT	0.383																																						dbGAP											0													198.0	187.0	190.0					3																	1418739		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.2146G>C	3.37:g.1418739G>C	ENSP00000407822:p.Glu716Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2KHM2	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E716Q	ENST00000446702.2	37	c.2146	CCDS2557.1	3	.	.	.	.	.	.	.	.	.	.	G	28.1	4.893445	0.91889	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.53857	0.6;0.6;0.6	5.76	5.76	0.90799	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000010	T	0.79919	0.4529	M	0.91140	3.18	0.80722	D	1	D	0.69078	0.997	D	0.75484	0.986	D	0.83526	0.0088	10	0.72032	D	0.01	.	19.9759	0.97304	0.0:0.0:1.0:0.0	.	716	Q9UQ52	CNTN6_HUMAN	Q	716;644;716	ENSP00000407822:E716Q;ENSP00000442791:E644Q;ENSP00000341882:E716Q	ENSP00000341882:E716Q	E	+	1	0	CNTN6	1393739	1.000000	0.71417	0.990000	0.47175	0.993000	0.82548	9.086000	0.94088	2.713000	0.92767	0.655000	0.94253	GAA	CNTN6	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000134115		0.383	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN6	HGNC	protein_coding	OTTHUMT00000239235.2	151	0.00	0	G	NM_014461		1418739	1418739	+1	no_errors	ENST00000350110	ensembl	human	known	69_37n	missense	164	17.91	36	SNP	1.000	C
CNTN3	5067	genome.wustl.edu	37	3	74350693	74350693	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:74350693C>T	ENST00000263665.6	-	15	1978	c.1951G>A	c.(1951-1953)Gag>Aag	p.E651K		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	651	Fibronectin type-III 1. {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)		TCGATGACCTCAGGCACTACA	0.448																																						dbGAP											0													108.0	104.0	106.0					3																	74350693		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.1951G>A	3.37:g.74350693C>T	ENSP00000263665:p.Glu651Lys	Somatic		WXS	Illumina GAIIx	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.E651K	ENST00000263665.6	37	c.1951	CCDS33790.1	3	.	.	.	.	.	.	.	.	.	.	C	24.0	4.479139	0.84747	.	.	ENSG00000113805	ENST00000263665	T	0.60920	0.15	5.54	5.54	0.83059	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.104191	0.64402	D	0.000003	T	0.66973	0.2844	L	0.60012	1.86	0.58432	D	0.999999	B	0.33413	0.411	P	0.45506	0.483	T	0.64575	-0.6375	10	0.42905	T	0.14	.	19.5023	0.95100	0.0:1.0:0.0:0.0	.	651	Q9P232	CNTN3_HUMAN	K	651	ENSP00000263665:E651K	ENSP00000263665:E651K	E	-	1	0	CNTN3	74433383	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.202000	0.77856	2.605000	0.88082	0.591000	0.81541	GAG	CNTN3	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000113805		0.448	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN3	HGNC	protein_coding	OTTHUMT00000352306.1	116	0.00	0	C	NM_020872		74350693	74350693	-1	no_errors	ENST00000263665	ensembl	human	known	69_37n	missense	136	11.69	18	SNP	1.000	T
CNTNAP2	26047	genome.wustl.edu	37	7	146805303	146805303	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:146805303G>A	ENST00000361727.3	+	5	1131	c.615G>A	c.(613-615)atG>atA	p.M205I		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	205					adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ACAAGAAGATGAAAACACTGA	0.368										HNSCC(39;0.1)																												dbGAP											0													115.0	108.0	110.0					7																	146805303		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.615G>A	7.37:g.146805303G>A	ENSP00000354778:p.Met205Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EGF-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EGF-like,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.M205I	ENST00000361727.3	37	c.615	CCDS5889.1	7	.	.	.	.	.	.	.	.	.	.	G	15.72	2.916355	0.52546	.	.	ENSG00000174469	ENST00000361727	T	0.78364	-1.17	6.03	6.03	0.97812	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.000000	0.85682	D	0.000000	T	0.69557	0.3124	L	0.37800	1.135	0.80722	D	1	B	0.11235	0.004	B	0.14023	0.01	T	0.63994	-0.6511	10	0.08837	T	0.75	.	19.1533	0.93499	0.0:0.0:1.0:0.0	.	205	Q9UHC6	CNTP2_HUMAN	I	205	ENSP00000354778:M205I	ENSP00000354778:M205I	M	+	3	0	CNTNAP2	146436236	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.292000	0.72725	2.868000	0.98415	0.557000	0.71058	ATG	CNTNAP2	-	superfamily_ConA-like_lec_gl,pfscan_Laminin_G	ENSG00000174469		0.368	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP2	HGNC	protein_coding	OTTHUMT00000327668.1	95	0.00	0	G			146805303	146805303	+1	no_errors	ENST00000361727	ensembl	human	known	69_37n	missense	64	17.95	14	SNP	1.000	A
CNTNAP5	129684	genome.wustl.edu	37	2	125320851	125320851	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:125320851C>G	ENST00000431078.1	+	11	2068	c.1704C>G	c.(1702-1704)ttC>ttG	p.F568L		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	568	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GGACTACCTTCTATTGTAACT	0.438																																						dbGAP											0													76.0	70.0	72.0					2																	125320851		1951	4145	6096	-	-	-	SO:0001583	missense	0			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1704C>G	2.37:g.125320851C>G	ENSP00000399013:p.Phe568Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EGF-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.F568L	ENST00000431078.1	37	c.1704	CCDS46401.1	2	.	.	.	.	.	.	.	.	.	.	C	16.29	3.082471	0.55861	.	.	ENSG00000155052	ENST00000431078	T	0.12147	2.71	6.07	3.04	0.35103	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.52532	D	0.000079	T	0.43100	0.1232	H	0.94886	3.595	0.51767	D	0.999937	D	0.71674	0.998	D	0.72625	0.978	T	0.37957	-0.9683	10	0.49607	T	0.09	.	8.1615	0.31201	0.0:0.6508:0.0:0.3492	.	568	Q8WYK1	CNTP5_HUMAN	L	568	ENSP00000399013:F568L	ENSP00000399013:F568L	F	+	3	2	CNTNAP5	125037321	0.799000	0.28903	0.847000	0.33407	0.313000	0.28021	0.724000	0.25954	0.401000	0.25424	-0.136000	0.14681	TTC	CNTNAP5	-	smart_EGF-like,pfscan_EG-like_dom	ENSG00000155052		0.438	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP5	HGNC	protein_coding	OTTHUMT00000330864.3	161	0.00	0	C			125320851	125320851	+1	no_errors	ENST00000431078	ensembl	human	known	69_37n	missense	125	14.38	21	SNP	1.000	G
CNTNAP5	129684	genome.wustl.edu	37	2	125405445	125405445	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:125405445G>A	ENST00000431078.1	+	13	2348	c.1984G>A	c.(1984-1986)Gaa>Aaa	p.E662K		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	662	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GGGCAGCATGGAACAGCTGGA	0.627																																						dbGAP											0													34.0	38.0	37.0					2																	125405445		2105	4213	6318	-	-	-	SO:0001583	missense	0			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1984G>A	2.37:g.125405445G>A	ENSP00000399013:p.Glu662Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EGF-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.E662K	ENST00000431078.1	37	c.1984	CCDS46401.1	2	.	.	.	.	.	.	.	.	.	.	G	22.8	4.338688	0.81911	.	.	ENSG00000155052	ENST00000431078	T	0.14144	2.53	5.2	4.32	0.51571	.	0.382971	0.21593	N	0.072070	T	0.19208	0.0461	M	0.78916	2.43	0.58432	D	0.999999	B	0.32573	0.376	B	0.30855	0.121	T	0.02167	-1.1202	10	0.39692	T	0.17	.	13.2541	0.60068	0.0771:0.0:0.9229:0.0	.	662	Q8WYK1	CNTP5_HUMAN	K	662	ENSP00000399013:E662K	ENSP00000399013:E662K	E	+	1	0	CNTNAP5	125121915	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.705000	0.98719	1.329000	0.45376	0.561000	0.74099	GAA	CNTNAP5	-	NULL	ENSG00000155052		0.627	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP5	HGNC	protein_coding	OTTHUMT00000330864.3	34	0.00	0	G			125405445	125405445	+1	no_errors	ENST00000431078	ensembl	human	known	69_37n	missense	23	41.03	16	SNP	1.000	A
CNTNAP5	129684	genome.wustl.edu	37	2	125555851	125555851	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:125555851C>T	ENST00000431078.1	+	19	3532	c.3168C>T	c.(3166-3168)atC>atT	p.I1056I		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1056	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGCTCTTTATCAATTCTTCTT	0.498																																						dbGAP											0													139.0	137.0	138.0					2																	125555851		1969	4151	6120	-	-	-	SO:0001819	synonymous_variant	0			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.3168C>T	2.37:g.125555851C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EGF-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.I1056	ENST00000431078.1	37	c.3168	CCDS46401.1	2																																																																																			CNTNAP5	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000155052		0.498	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP5	HGNC	protein_coding	OTTHUMT00000330864.3	164	0.00	0	C			125555851	125555851	+1	no_errors	ENST00000431078	ensembl	human	known	69_37n	silent	152	14.61	26	SNP	1.000	T
CNTRL	11064	genome.wustl.edu	37	9	123858707	123858707	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:123858707G>A	ENST00000373855.1	+	6	747	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K	CNTRL_ENST00000373865.2_Missense_Mutation_p.E163K|CNTRL_ENST00000238341.5_Missense_Mutation_p.E163K			Q7Z7A1	CNTRL_HUMAN	centriolin	163					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						CAGCAAAATTGAAGGCATAGA	0.323																																						dbGAP											0													56.0	57.0	57.0					9																	123858707		2202	4299	6501	-	-	-	SO:0001583	missense	0			AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.487G>A	9.37:g.123858707G>A	ENSP00000362962:p.Glu163Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp	p.E163K	ENST00000373855.1	37	c.487	CCDS35118.1	9	.	.	.	.	.	.	.	.	.	.	G	27.1	4.802482	0.90538	.	.	ENSG00000119397	ENST00000373865;ENST00000373855;ENST00000238341;ENST00000454238	T;T	0.55588	0.51;0.51	6.08	5.19	0.71726	.	.	.	.	.	T	0.63616	0.2526	M	0.64080	1.96	0.43896	D	0.996523	D	0.56746	0.977	P	0.54889	0.763	T	0.67917	-0.5546	9	0.72032	D	0.01	.	14.354	0.66724	0.0703:0.0:0.9297:0.0	.	163	Q7Z7A1	CNTRL_HUMAN	K	163	ENSP00000362962:E163K;ENSP00000238341:E163K	ENSP00000238341:E163K	E	+	1	0	CNTRL	122898528	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.810000	0.86072	1.586000	0.49944	0.591000	0.81541	GAA	CNTRL	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000119397		0.323	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTRL	HGNC	protein_coding	OTTHUMT00000250216.1	66	0.00	0	G	NM_007018		123858707	123858707	+1	no_errors	ENST00000238341	ensembl	human	known	69_37n	missense	67	15.19	12	SNP	1.000	A
CNTRL	11064	genome.wustl.edu	37	9	123877413	123877413	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:123877413G>A	ENST00000373855.1	+	11	1650	c.1390G>A	c.(1390-1392)Gaa>Aaa	p.E464K	CNTRL_ENST00000373865.2_3'UTR|CNTRL_ENST00000238341.5_Missense_Mutation_p.E464K			Q7Z7A1	CNTRL_HUMAN	centriolin	464					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						AGAAAAGGCAGAACAACAAAT	0.323																																						dbGAP											0													83.0	85.0	84.0					9																	123877413		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.1390G>A	9.37:g.123877413G>A	ENSP00000362962:p.Glu464Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp	p.E464K	ENST00000373855.1	37	c.1390	CCDS35118.1	9	.	.	.	.	.	.	.	.	.	.	G	28.5	4.928416	0.92389	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238	T;T	0.27256	1.68;1.68	5.09	5.09	0.68999	.	.	.	.	.	T	0.49558	0.1564	M	0.64997	1.995	0.42227	D	0.991871	D;D	0.89917	1.0;0.997	D;D	0.85130	0.997;0.985	T	0.43393	-0.9394	9	0.44086	T	0.13	.	17.8752	0.88823	0.0:0.0:1.0:0.0	.	464;464	F5GZN0;Q7Z7A1	.;CNTRL_HUMAN	K	464	ENSP00000362962:E464K;ENSP00000238341:E464K	ENSP00000238341:E464K	E	+	1	0	CNTRL	122917234	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.805000	0.75191	2.537000	0.85549	0.655000	0.94253	GAA	CNTRL	-	NULL	ENSG00000119397		0.323	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTRL	HGNC	protein_coding	OTTHUMT00000250216.1	94	0.00	0	G	NM_007018		123877413	123877413	+1	no_errors	ENST00000238341	ensembl	human	known	69_37n	missense	59	18.06	13	SNP	1.000	A
CNTRL	11064	genome.wustl.edu	37	9	123886239	123886239	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:123886239G>C	ENST00000373855.1	+	13	1941	c.1681G>C	c.(1681-1683)Gaa>Caa	p.E561Q	CNTRL_ENST00000373847.1_Missense_Mutation_p.E9Q|CNTRL_ENST00000373850.1_Missense_Mutation_p.E9Q|CNTRL_ENST00000238341.5_Missense_Mutation_p.E561Q			Q7Z7A1	CNTRL_HUMAN	centriolin	561					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						GAGCGGTAAAGAACAACAGCT	0.343																																						dbGAP											0													106.0	99.0	102.0					9																	123886239		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.1681G>C	9.37:g.123886239G>C	ENSP00000362962:p.Glu561Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp	p.E561Q	ENST00000373855.1	37	c.1681	CCDS35118.1	9	.	.	.	.	.	.	.	.	.	.	G	17.16	3.318237	0.60524	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000373851;ENST00000373850;ENST00000373847	T;T;T;T	0.62639	1.28;1.28;0.01;0.25	5.45	4.53	0.55603	.	.	.	.	.	T	0.76449	0.3989	M	0.62723	1.935	0.30686	N	0.75181	D;D;D	0.89917	0.976;1.0;0.999	P;D;D	0.85130	0.892;0.997;0.994	T	0.76135	-0.3070	9	0.45353	T	0.12	.	15.1779	0.72931	0.0:0.1416:0.8584:0.0	.	561;561;561	B2RP65;F5GZN0;Q7Z7A1	.;.;CNTRL_HUMAN	Q	561;561;561;43;9;9	ENSP00000362962:E561Q;ENSP00000238341:E561Q;ENSP00000362956:E9Q;ENSP00000362953:E9Q	ENSP00000238341:E561Q	E	+	1	0	CNTRL	122926060	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	3.871000	0.56077	1.243000	0.43853	0.563000	0.77884	GAA	CNTRL	-	superfamily_Prefoldin	ENSG00000119397		0.343	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTRL	HGNC	protein_coding	OTTHUMT00000250216.1	54	0.00	0	G	NM_007018		123886239	123886239	+1	no_errors	ENST00000238341	ensembl	human	known	69_37n	missense	50	43.18	38	SNP	1.000	C
CNTROB	116840	genome.wustl.edu	37	17	7851261	7851261	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:7851261G>A	ENST00000563694.1	+	15	3098	c.2173G>A	c.(2173-2175)Gag>Aag	p.E725K	CNTROB_ENST00000380262.3_Missense_Mutation_p.E725K|CNTROB_ENST00000380255.3_3'UTR|CNTROB_ENST00000565740.1_Missense_Mutation_p.E725K	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	725	Pro-rich.|Required for centrosome localization.				centriole replication (GO:0007099)|centrosome separation (GO:0051299)|cytokinesis (GO:0000910)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				CCAGAACAATGAGAACCCTTC	0.507																																						dbGAP											0													201.0	198.0	199.0					17																	7851261		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF331638	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15				ENSG00000170037			29616	protein-coding gene	gene with protein product	"""centrobin"""	611425				11984006, 16275750	Standard	NM_001037144		Approved	LIP8, PP1221	uc002gjp.3	Q8N137		ENST00000563694.1:c.2173G>A	17.37:g.7851261G>A	ENSP00000456335:p.Glu725Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Missense_Mutation	SNP	NULL	p.E725K	ENST00000563694.1	37	c.2173	CCDS11126.1	17	.	.	.	.	.	.	.	.	.	.	G	14.28	2.489036	0.44249	.	.	ENSG00000170037	ENST00000380262	T	0.38240	1.15	5.45	5.45	0.79879	.	0.396431	0.21566	N	0.072485	T	0.31040	0.0784	N	0.24115	0.695	0.80722	D	1	B;B;B	0.30281	0.275;0.275;0.275	B;B;B	0.36289	0.221;0.221;0.221	T	0.11941	-1.0567	10	0.56958	D	0.05	-0.3161	14.6523	0.68805	0.0:0.0:1.0:0.0	.	725;725;725	Q8N137-3;Q8N137;Q8N137-2	.;CNTRB_HUMAN;.	K	725	ENSP00000369614:E725K	ENSP00000369614:E725K	E	+	1	0	CNTROB	7791986	0.339000	0.24784	0.049000	0.19019	0.312000	0.27988	4.134000	0.57990	2.836000	0.97738	0.655000	0.94253	GAG	CNTROB	-	NULL	ENSG00000170037		0.507	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CNTROB	HGNC	protein_coding	OTTHUMT00000421372.1	49	0.00	0	G	NM_053051		7851261	7851261	+1	no_errors	ENST00000380262	ensembl	human	known	69_37n	missense	64	17.95	14	SNP	0.071	A
COG1	9382	genome.wustl.edu	37	17	71202305	71202305	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:71202305G>C	ENST00000299886.4	+	11	2603	c.2523G>C	c.(2521-2523)gtG>gtC	p.V841V		NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	841					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			TTGAGAAAGTGACTGACCACC	0.433																																						dbGAP											0													114.0	103.0	107.0					17																	71202305		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS11692.1	17q25.1	2008-05-14	2002-05-28	2002-05-31		ENSG00000166685		"""Components of oligomeric golgi complex"""	6545	protein-coding gene	gene with protein product		606973	"""low density lipoprotein receptor defect B complementing"""	LDLB		9927668	Standard	NM_018714		Approved	KIAA1381	uc002jjg.3	Q8WTW3		ENST00000299886.4:c.2523G>C	17.37:g.71202305G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NPV9|Q9P2G6	Missense_Mutation	SNP	pfam_Vps51	p.D841H	ENST00000299886.4	37	c.2521	CCDS11692.1	17																																																																																			COG1	-	NULL	ENSG00000166685		0.433	COG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COG1	HGNC	protein_coding	OTTHUMT00000441638.1	51	0.00	0	G			71202305	71202305	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000438720	ensembl	human	putative	69_37n	missense	89	19.82	22	SNP	0.026	C
COG5	10466	genome.wustl.edu	37	7	106850996	106850996	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:106850996C>G	ENST00000347053.3	-	20	2430	c.2380G>C	c.(2380-2382)Gaa>Caa	p.E794Q	COG5_ENST00000297135.3_Missense_Mutation_p.E815Q|COG5_ENST00000393603.2_Missense_Mutation_p.E815Q	NM_181733.2	NP_859422.2	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	794					intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						CTGTCCTTTTCAGATGGATGG	0.542																																						dbGAP											0													63.0	52.0	56.0					7																	106850996		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF058718	CCDS5742.1, CCDS5743.1, CCDS55152.1	7q31	2010-06-24	2001-12-07	2002-05-10	ENSG00000164597	ENSG00000164597		"""Components of oligomeric golgi complex"""	14857	protein-coding gene	gene with protein product		606821	"""golgi transport complex 1 (90 kDa subunit)"""	GOLTC1		9792665, 11980916	Standard	NM_006348		Approved	GTC90	uc003vec.2	Q9UP83	OTTHUMG00000023895	ENST00000347053.3:c.2380G>C	7.37:g.106850996C>G	ENSP00000334703:p.Glu794Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D0R6|A4D0R7|O14555|O95008|Q6NUL5	Missense_Mutation	SNP	pfam_COG_su5,pfam_Vps51	p.E815Q	ENST00000347053.3	37	c.2443	CCDS5743.1	7	.	.	.	.	.	.	.	.	.	.	C	29.7	5.028711	0.93518	.	.	ENSG00000164597	ENST00000347053;ENST00000297135;ENST00000393603	T;T;T	0.32753	1.44;1.53;1.5	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.53367	0.1792	M	0.67397	2.05	0.58432	D	0.999999	D;D	0.67145	0.991;0.996	P;P	0.62491	0.745;0.903	T	0.53885	-0.8375	10	0.59425	D	0.04	-21.0273	18.9146	0.92499	0.0:1.0:0.0:0.0	.	794;815	Q9UP83;Q9UP83-2	COG5_HUMAN;.	Q	794;815;815	ENSP00000334703:E794Q;ENSP00000297135:E815Q;ENSP00000377228:E815Q	ENSP00000297135:E815Q	E	-	1	0	COG5	106638232	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	6.458000	0.73509	2.582000	0.87167	0.655000	0.94253	GAA	COG5	-	NULL	ENSG00000164597		0.542	COG5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COG5	HGNC	protein_coding	OTTHUMT00000060216.4	38	0.00	0	C			106850996	106850996	-1	no_errors	ENST00000297135	ensembl	human	known	69_37n	missense	36	40.98	25	SNP	1.000	G
COG5	10466	genome.wustl.edu	37	7	107167692	107167692	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:107167692G>A	ENST00000347053.3	-	6	671	c.621C>T	c.(619-621)ctC>ctT	p.L207L	COG5_ENST00000393603.2_Silent_p.L207L|COG5_ENST00000475638.2_5'UTR|COG5_ENST00000297135.3_Silent_p.L207L	NM_181733.2	NP_859422.2	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	207					intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						CAAGTTCATTGAGACTCTGAG	0.323																																						dbGAP											0													85.0	77.0	79.0					7																	107167692		2203	4298	6501	-	-	-	SO:0001819	synonymous_variant	0			AF058718	CCDS5742.1, CCDS5743.1, CCDS55152.1	7q31	2010-06-24	2001-12-07	2002-05-10	ENSG00000164597	ENSG00000164597		"""Components of oligomeric golgi complex"""	14857	protein-coding gene	gene with protein product		606821	"""golgi transport complex 1 (90 kDa subunit)"""	GOLTC1		9792665, 11980916	Standard	NM_006348		Approved	GTC90	uc003vec.2	Q9UP83	OTTHUMG00000023895	ENST00000347053.3:c.621C>T	7.37:g.107167692G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D0R6|A4D0R7|O14555|O95008|Q6NUL5	Silent	SNP	pfam_COG_su5,pfam_Vps51	p.L207	ENST00000347053.3	37	c.621	CCDS5743.1	7																																																																																			COG5	-	NULL	ENSG00000164597		0.323	COG5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COG5	HGNC	protein_coding	OTTHUMT00000060216.4	179	0.00	0	G			107167692	107167692	-1	no_errors	ENST00000297135	ensembl	human	known	69_37n	silent	151	22.56	44	SNP	1.000	A
COL11A1	1301	genome.wustl.edu	37	1	103380321	103380321	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:103380321C>G	ENST00000370096.3	-	51	4175	c.3863G>C	c.(3862-3864)gGa>gCa	p.G1288A	COL11A1_ENST00000358392.2_Missense_Mutation_p.G1300A|COL11A1_ENST00000353414.4_Missense_Mutation_p.G1249A|COL11A1_ENST00000512756.1_Missense_Mutation_p.G1172A	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1288	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TCCAGCAGCTCCAGGTGGACC	0.483																																						dbGAP											0													47.0	47.0	47.0					1																	103380321		2203	4300	6503	-	-	-	SO:0001583	missense	0			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.3863G>C	1.37:g.103380321C>G	ENSP00000359114:p.Gly1288Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C	p.G1300A	ENST00000370096.3	37	c.3899	CCDS778.1	1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.116075	0.77323	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.97850	-4.23;-4.16;-4.57;-4.57	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.99217	0.9728	H	0.94886	3.595	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;1.0	D;D;D;D;D	0.97110	0.991;0.998;1.0;0.996;0.996	D	0.99222	1.0879	10	0.87932	D	0	.	20.1001	0.97870	0.0:1.0:0.0:0.0	.	1172;1249;1300;1288;508	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	A	1288;1300;1249;508;1172	ENSP00000359114:G1288A;ENSP00000351163:G1300A;ENSP00000302551:G1249A;ENSP00000426533:G1172A	ENSP00000302551:G1249A	G	-	2	0	COL11A1	103152909	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.403000	0.79983	2.760000	0.94817	0.655000	0.94253	GGA	COL11A1	-	NULL	ENSG00000060718		0.483	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	HGNC	protein_coding	OTTHUMT00000029997.1	48	0.00	0	C	NM_080630		103380321	103380321	-1	no_errors	ENST00000358392	ensembl	human	known	69_37n	missense	25	39.02	16	SNP	1.000	G
COL11A1	1301	genome.wustl.edu	37	1	103461552	103461552	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:103461552C>G	ENST00000370096.3	-	27	2600	c.2288G>C	c.(2287-2289)gGa>gCa	p.G763A	COL11A1_ENST00000358392.2_Missense_Mutation_p.G775A|COL11A1_ENST00000353414.4_Missense_Mutation_p.G724A|COL11A1_ENST00000512756.1_Missense_Mutation_p.G647A	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	763	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TACCTTTACTCCCCGGGGGCC	0.388																																						dbGAP											0													44.0	50.0	48.0					1																	103461552		2201	4296	6497	-	-	-	SO:0001583	missense	0			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.2288G>C	1.37:g.103461552C>G	ENSP00000359114:p.Gly763Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C	p.G775A	ENST00000370096.3	37	c.2324	CCDS778.1	1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.440728	0.83993	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756	D;D;D;D	0.99479	-5.98;-5.98;-5.98;-5.98	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.99718	0.9891	M	0.93978	3.48	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	1.0;0.998;0.998;0.996	D	0.97747	1.0212	10	0.87932	D	0	.	19.8579	0.96771	0.0:1.0:0.0:0.0	.	647;724;775;763	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	A	763;775;724;647	ENSP00000359114:G763A;ENSP00000351163:G775A;ENSP00000302551:G724A;ENSP00000426533:G647A	ENSP00000302551:G724A	G	-	2	0	COL11A1	103234140	1.000000	0.71417	1.000000	0.80357	0.629000	0.37895	7.172000	0.77604	2.687000	0.91594	0.655000	0.94253	GGA	COL11A1	-	pfam_Collagen	ENSG00000060718		0.388	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	HGNC	protein_coding	OTTHUMT00000029997.1	26	0.00	0	C	NM_080630		103461552	103461552	-1	no_errors	ENST00000358392	ensembl	human	known	69_37n	missense	21	30.00	9	SNP	1.000	G
COL12A1	1303	genome.wustl.edu	37	6	75828832	75828832	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:75828832C>A	ENST00000322507.8	-	46	7590	c.7281G>T	c.(7279-7281)aaG>aaT	p.K2427N	COL12A1_ENST00000345356.6_Missense_Mutation_p.K1263N|COL12A1_ENST00000483888.2_Missense_Mutation_p.K2427N|COL12A1_ENST00000416123.2_Missense_Mutation_p.K2427N	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2427	VWFA 4. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CAACCAACACCTTAGGGACAT	0.498																																						dbGAP											0													133.0	132.0	132.0					6																	75828832		1970	4164	6134	-	-	-	SO:0001583	missense	0			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.7281G>T	6.37:g.75828832C>A	ENSP00000325146:p.Lys2427Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.K2427N	ENST00000322507.8	37	c.7281	CCDS43482.1	6	.	.	.	.	.	.	.	.	.	.	C	21.9	4.218524	0.79464	.	.	ENSG00000111799	ENST00000322507;ENST00000425443;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	D;D;D;D;D	0.86366	-2.11;-2.11;-2.11;-2.11;-2.11	5.78	3.09	0.35607	von Willebrand factor, type A (3);	0.050975	0.85682	D	0.000000	D	0.88448	0.6439	M	0.64404	1.975	0.42954	D	0.994387	D;D	0.67145	0.995;0.996	D;D	0.70016	0.946;0.967	D	0.88608	0.3154	10	0.87932	D	0	.	11.0999	0.48168	0.0:0.8017:0.0:0.1983	.	1263;2427	Q99715-2;Q99715	.;COCA1_HUMAN	N	2427;65;2427;1263;2427;2427	ENSP00000325146:K2427N;ENSP00000399812:K65N;ENSP00000305147:K1263N;ENSP00000412864:K2427N;ENSP00000421216:K2427N	ENSP00000325146:K2427N	K	-	3	2	COL12A1	75885552	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.331000	0.52075	0.384000	0.24942	0.650000	0.86243	AAG	COL12A1	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000111799		0.498	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL12A1	HGNC	protein_coding	OTTHUMT00000041249.3	101	0.00	0	C	NM_004370		75828832	75828832	-1	no_errors	ENST00000322507	ensembl	human	known	69_37n	missense	67	27.17	25	SNP	1.000	A
COL12A1	1303	genome.wustl.edu	37	6	75861682	75861682	+	Silent	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:75861682G>T	ENST00000322507.8	-	20	4210	c.3901C>A	c.(3901-3903)Cga>Aga	p.R1301R	COL12A1_ENST00000345356.6_Silent_p.R137R|COL12A1_ENST00000483888.2_Silent_p.R1301R|COL12A1_ENST00000416123.2_Silent_p.R1301R	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1301	VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.R1301R(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CCAATTTTTCGAGCTCGAGGT	0.438																																						dbGAP											1	Substitution - coding silent(1)	lung(1)											175.0	169.0	171.0					6																	75861682		1959	4151	6110	-	-	-	SO:0001819	synonymous_variant	0			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.3901C>A	6.37:g.75861682G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Nonsense_Mutation	SNP	pfam_Fibronectin_type3,pfam_VWF_A,superfamily_Fibronectin_type3,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A	p.S42*	ENST00000322507.8	37	c.125	CCDS43482.1	6	.	.	.	.	.	.	.	.	.	.	G	9.348	1.064720	0.20067	.	.	ENSG00000111799	ENST00000419671	.	.	.	5.78	3.87	0.44632	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7961	0.63171	0.0:0.0:0.5364:0.4636	.	.	.	.	X	42	.	.	S	-	2	0	COL12A1	75918402	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.418000	0.44662	0.622000	0.30249	0.650000	0.86243	TCG	COL12A1	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000111799		0.438	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL12A1	HGNC	protein_coding	OTTHUMT00000041249.3	89	0.00	0	G	NM_004370		75861682	75861682	-1	no_start_codon:pseudogene:no_stop_codon	ENST00000419671	ensembl	human	novel	69_37n	nonsense	88	28.46	35	SNP	1.000	T
COL12A1	1303	genome.wustl.edu	37	6	75866204	75866204	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:75866204C>T	ENST00000322507.8	-	15	3328	c.3019G>A	c.(3019-3021)Gaa>Aaa	p.E1007K	COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Missense_Mutation_p.E1007K|COL12A1_ENST00000416123.2_Missense_Mutation_p.E1007K	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1007	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TTTTCTGTTTCTTCATCTACT	0.408																																						dbGAP											0													243.0	219.0	226.0					6																	75866204		1882	4118	6000	-	-	-	SO:0001583	missense	0			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.3019G>A	6.37:g.75866204C>T	ENSP00000325146:p.Glu1007Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.E1007K	ENST00000322507.8	37	c.3019	CCDS43482.1	6	.	.	.	.	.	.	.	.	.	.	C	28.5	4.927236	0.92389	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	T;T;T	0.56941	0.43;0.43;0.43	5.36	5.36	0.76844	Fibronectin, type III (4);	0.000000	0.64402	D	0.000001	T	0.68035	0.2957	M	0.74258	2.255	0.58432	D	0.999998	D	0.76494	0.999	D	0.70487	0.969	T	0.69632	-0.5093	10	0.52906	T	0.07	.	19.0809	0.93180	0.0:1.0:0.0:0.0	.	1007	Q99715	COCA1_HUMAN	K	1007	ENSP00000325146:E1007K;ENSP00000412864:E1007K;ENSP00000421216:E1007K	ENSP00000325146:E1007K	E	-	1	0	COL12A1	75922924	1.000000	0.71417	1.000000	0.80357	0.707000	0.40811	7.487000	0.81328	2.496000	0.84212	0.591000	0.81541	GAA	COL12A1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000111799		0.408	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL12A1	HGNC	protein_coding	OTTHUMT00000041249.3	260	0.00	0	C	NM_004370		75866204	75866204	-1	no_errors	ENST00000322507	ensembl	human	known	69_37n	missense	194	26.24	69	SNP	1.000	T
COL14A1	7373	genome.wustl.edu	37	8	121209170	121209170	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:121209170G>C	ENST00000297848.3	+	6	847	c.577G>C	c.(577-579)Gag>Cag	p.E193Q	COL14A1_ENST00000537875.1_Missense_Mutation_p.E193Q|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.E193Q|COL14A1_ENST00000247781.3_Missense_Mutation_p.E193Q	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1									p.E193Q(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TGTGGGCTCAGAGAAGACACG	0.388																																						dbGAP											1	Substitution - Missense(1)	breast(1)											166.0	155.0	159.0					8																	121209170		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.577G>C	8.37:g.121209170G>C	ENSP00000297848:p.Glu193Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.E193Q	ENST00000297848.3	37	c.577	CCDS34938.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.50|19.50	3.838509|3.838509	0.71373|0.71373	.|.	.|.	ENSG00000187955|ENSG00000187955	ENST00000537875;ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620|ENST00000523142	D;D;D;D;D|.	0.84146|.	-1.81;-1.81;-1.81;-1.81;-1.81|.	5.43|5.43	4.48|4.48	0.54585|0.54585	von Willebrand factor, type A (3);|.	0.267459|.	0.42053|.	D|.	0.000778|.	T|T	0.56187|0.56187	0.1968|0.1968	L|L	0.35593|0.35593	1.075|1.075	0.37953|0.37953	D|D	0.932713|0.932713	P|.	0.40302|.	0.712|.	B|.	0.38985|.	0.287|.	T|T	0.54977|0.54977	-0.8212|-0.8212	10|5	0.19147|.	T|.	0.46|.	.|.	14.7726|14.7726	0.69691|0.69691	0.0789:0.0:0.9211:0.0|0.0789:0.0:0.9211:0.0	.|.	193|.	Q05707|.	COEA1_HUMAN|.	Q|T	193;193;193;193;6|44	ENSP00000443974:E193Q;ENSP00000311809:E193Q;ENSP00000297848:E193Q;ENSP00000247781:E193Q;ENSP00000409461:E6Q|.	ENSP00000247781:E193Q|.	E|R	+|+	1|2	0|0	COL14A1|COL14A1	121278351|121278351	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	6.506000|6.506000	0.73712|0.73712	2.827000|2.827000	0.97445|0.97445	0.650000|0.650000	0.86243|0.86243	GAG|AGA	COL14A1	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000187955		0.388	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL14A1	HGNC	protein_coding	OTTHUMT00000313657.2	92	0.00	0	G	NM_021110		121209170	121209170	+1	no_errors	ENST00000297848	ensembl	human	known	69_37n	missense	99	23.08	30	SNP	0.999	C
COL14A1	7373	genome.wustl.edu	37	8	121344922	121344922	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:121344922G>C	ENST00000297848.3	+	42	5003	c.4733G>C	c.(4732-4734)gGa>gCa	p.G1578A	COL14A1_ENST00000309791.4_Missense_Mutation_p.G1578A|COL14A1_ENST00000247781.3_Missense_Mutation_p.G1483A	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GGCACCCCTGGAGTCCCAGGG	0.522																																						dbGAP											0													125.0	110.0	115.0					8																	121344922		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.4733G>C	8.37:g.121344922G>C	ENSP00000297848:p.Gly1578Ala	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.G1578A	ENST00000297848.3	37	c.4733	CCDS34938.1	8	.	.	.	.	.	.	.	.	.	.	G	13.62	2.290689	0.40494	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781	D;D;D	0.99158	-5.5;-5.5;-5.5	5.52	4.61	0.57282	.	0.099522	0.64402	D	0.000001	D	0.99121	0.9697	M	0.90309	3.105	0.80722	D	1	D	0.57899	0.981	P	0.55999	0.789	D	0.98891	1.0773	10	0.87932	D	0	.	13.6908	0.62544	0.0:0.1539:0.8461:0.0	.	1578	Q05707	COEA1_HUMAN	A	1578;1578;1483	ENSP00000311809:G1578A;ENSP00000297848:G1578A;ENSP00000247781:G1483A	ENSP00000247781:G1483A	G	+	2	0	COL14A1	121414103	1.000000	0.71417	1.000000	0.80357	0.014000	0.08584	4.257000	0.58816	2.594000	0.87642	0.561000	0.74099	GGA	COL14A1	-	pfam_Collagen	ENSG00000187955		0.522	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL14A1	HGNC	protein_coding	OTTHUMT00000313657.2	151	0.00	0	G	NM_021110		121344922	121344922	+1	no_errors	ENST00000297848	ensembl	human	known	69_37n	missense	239	12.45	34	SNP	0.999	C
COL15A1	1306	genome.wustl.edu	37	9	101832093	101832093	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:101832093G>A	ENST00000375001.3	+	42	4515	c.4092G>A	c.(4090-4092)caG>caA	p.Q1364Q		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1364	Nonhelical region 10 (NC10).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TTCTGGACCAGAAAGCATACA	0.512																																						dbGAP											0													96.0	88.0	91.0					9																	101832093		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.4092G>A	9.37:g.101832093G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T6J4|Q9UDC5|Q9Y4W4	Silent	SNP	pfam_Collagenase_NC10/endostatin,pfam_Collagen,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl,smart_Laminin_G	p.Q1364	ENST00000375001.3	37	c.4092	CCDS35081.1	9																																																																																			COL15A1	-	pfam_Collagenase_NC10/endostatin,superfamily_C-type_lectin_fold	ENSG00000204291		0.512	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL15A1	HGNC	protein_coding	OTTHUMT00000053386.3	41	0.00	0	G	NM_001855		101832093	101832093	+1	no_errors	ENST00000375001	ensembl	human	known	69_37n	silent	45	15.09	8	SNP	1.000	A
COL18A1	80781	genome.wustl.edu	37	21	46888313	46888313	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr21:46888313C>G	ENST00000359759.4	+	2	1530	c.1509C>G	c.(1507-1509)ttC>ttG	p.F503L	COL18A1_ENST00000400337.2_Missense_Mutation_p.F88L|COL18A1_ENST00000355480.5_Missense_Mutation_p.F268L			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	503	Laminin G-like.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CCAGCCTCTTCTTCCGTGACT	0.642																																						dbGAP											0													82.0	95.0	91.0					21																	46888313		2075	4200	6275	-	-	-	SO:0001583	missense	0				CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.1509C>G	21.37:g.46888313C>G	ENSP00000352798:p.Phe503Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Missense_Mutation	SNP	pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom	p.F503L	ENST00000359759.4	37	c.1509		21	.	.	.	.	.	.	.	.	.	.	C	15.33	2.801309	0.50315	.	.	ENSG00000182871	ENST00000400337;ENST00000400347;ENST00000355480;ENST00000359759;ENST00000539645	T;T;T	0.01838	4.61;4.61;4.61	4.65	3.77	0.43336	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.236728	0.43416	D	0.000567	T	0.05273	0.0140	M	0.71581	2.175	0.46927	D	0.99925	P;B;B	0.42296	0.775;0.394;0.394	P;B;B	0.46758	0.526;0.3;0.3	T	0.22243	-1.0222	10	0.54805	T	0.06	.	7.491	0.27462	0.0:0.7401:0.1683:0.0916	.	503;268;88	P39060;P39060-1;P39060-2	COIA1_HUMAN;.;.	L	88;88;268;503;503	ENSP00000383191:F88L;ENSP00000347665:F268L;ENSP00000352798:F503L	ENSP00000347665:F268L	F	+	3	2	COL18A1	45712741	1.000000	0.71417	1.000000	0.80357	0.743000	0.42351	1.201000	0.32259	1.077000	0.40990	0.655000	0.94253	TTC	COL18A1	-	superfamily_ConA-like_lec_gl,smart_Laminin_G	ENSG00000182871		0.642	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	COL18A1	HGNC	protein_coding	OTTHUMT00000206827.1	35	0.00	0	C			46888313	46888313	+1	no_errors	ENST00000359759	ensembl	human	known	69_37n	missense	27	20.59	7	SNP	1.000	G
COL1A1	1277	genome.wustl.edu	37	17	48266749	48266749	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:48266749C>T	ENST00000225964.5	-	39	2936	c.2818G>A	c.(2818-2820)Gat>Aat	p.D940N		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	940	Triple-helical region.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	GCAGGACCATCAGCACCAGGG	0.642			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																															dbGAP		Dom	yes		17	17q21.31-q22	1277	"""collagen, type I, alpha 1"""	yes	M	0													48.0	52.0	50.0					17																	48266749		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.2818G>A	17.37:g.48266749C>T	ENSP00000225964:p.Asp940Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Missense_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.D940N	ENST00000225964.5	37	c.2818	CCDS11561.1	17	.	.	.	.	.	.	.	.	.	.	C	19.66	3.868247	0.72065	.	.	ENSG00000108821	ENST00000225964	D	0.93247	-3.19	4.26	4.26	0.50523	.	0.198261	0.41294	D	0.000915	D	0.94095	0.8107	L	0.48642	1.525	0.58432	D	0.999999	P	0.45396	0.857	P	0.55785	0.784	D	0.94726	0.7905	10	0.66056	D	0.02	.	15.6054	0.76664	0.0:1.0:0.0:0.0	.	940	P02452	CO1A1_HUMAN	N	940	ENSP00000225964:D940N	ENSP00000225964:D940N	D	-	1	0	COL1A1	45621748	0.911000	0.30947	0.995000	0.50966	0.851000	0.48451	3.897000	0.56273	2.225000	0.72522	0.305000	0.20034	GAT	COL1A1	-	NULL	ENSG00000108821		0.642	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL1A1	HGNC	protein_coding	OTTHUMT00000309036.2	21	0.00	0	C			48266749	48266749	-1	no_errors	ENST00000225964	ensembl	human	known	69_37n	missense	21	25.00	7	SNP	1.000	T
COL1A2	1278	genome.wustl.edu	37	7	94047825	94047825	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:94047825C>G	ENST00000297268.6	+	33	2457	c.1986C>G	c.(1984-1986)ctC>ctG	p.L662L		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	662					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	AACCTGGTCTCAGAGGTGAAA	0.333										HNSCC(75;0.22)																												dbGAP											0													164.0	159.0	161.0					7																	94047825		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.1986C>G	7.37:g.94047825C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Silent	SNP	pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C,smart_Fib_collagen_C	p.L662	ENST00000297268.6	37	c.1986	CCDS34682.1	7																																																																																			COL1A2	-	NULL	ENSG00000164692		0.333	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL1A2	HGNC	protein_coding	OTTHUMT00000309045.2	200	0.00	0	C	NM_000089		94047825	94047825	+1	no_errors	ENST00000297268	ensembl	human	known	69_37n	silent	163	22.38	47	SNP	0.999	G
COL27A1	85301	genome.wustl.edu	37	9	116972001	116972001	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:116972001G>C	ENST00000356083.3	+	11	2706	c.2315G>C	c.(2314-2316)gGa>gCa	p.G772A	MIR455_ENST00000384993.1_RNA	NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	772	Collagen-like 3.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GGGTCTGATGGAGAACGAGTA	0.572																																						dbGAP											0													127.0	131.0	129.0					9																	116972001		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.2315G>C	9.37:g.116972001G>C	ENSP00000348385:p.Gly772Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q66K43|Q96JF7	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_Fib_collagen_C	p.G772A	ENST00000356083.3	37	c.2315	CCDS6802.1	9	.	.	.	.	.	.	.	.	.	.	G	17.32	3.359586	0.61403	.	.	ENSG00000196739	ENST00000356083;ENST00000357257;ENST00000374106;ENST00000451716	D;D	0.99607	-5.5;-6.27	4.36	4.36	0.52297	.	.	.	.	.	D	0.99674	0.9878	M	0.93106	3.38	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.996;0.999	D	0.97418	1.0007	9	0.72032	D	0.01	.	14.778	0.69743	0.0:0.0:1.0:0.0	.	772;668	Q8IZC6;Q5T1U7	CORA1_HUMAN;.	A	772;772;668;668	ENSP00000348385:G772A;ENSP00000391328:G668A	ENSP00000348385:G772A	G	+	2	0	COL27A1	116011822	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.167000	0.94773	2.424000	0.82194	0.650000	0.86243	GGA	COL27A1	-	NULL	ENSG00000196739		0.572	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL27A1	HGNC	protein_coding	OTTHUMT00000053763.1	79	0.00	0	G	NM_032888		116972001	116972001	+1	no_errors	ENST00000356083	ensembl	human	known	69_37n	missense	91	16.51	18	SNP	1.000	C
COL2A1	1280	genome.wustl.edu	37	12	48370913	48370913	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:48370913G>T	ENST00000380518.3	-	47	3463	c.3299C>A	c.(3298-3300)tCa>tAa	p.S1100*	COL2A1_ENST00000337299.6_Nonsense_Mutation_p.S1031*|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	1100	Triple-helical region.				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)	AGCTGGTCCTGAGGGTCCCAT	0.642																																						dbGAP											0													36.0	33.0	34.0					12																	48370913		2203	4299	6502	-	-	-	SO:0001587	stop_gained	0			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.3299C>A	12.37:g.48370913G>T	ENSP00000369889:p.Ser1100*	Somatic		WXS	Illumina GAIIx	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	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.S1100*	ENST00000380518.3	37	c.3299	CCDS41778.1	12	.	.	.	.	.	.	.	.	.	.	G	44	10.534909	0.99423	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	.	.	.	5.15	5.15	0.70609	.	0.316966	0.29624	N	0.011622	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	18.2304	0.89933	0.0:0.0:1.0:0.0	.	.	.	.	X	1100;1031;1031	.	ENSP00000338213:S1031X	S	-	2	0	COL2A1	46657180	1.000000	0.71417	0.927000	0.36925	0.799000	0.45148	9.224000	0.95209	2.401000	0.81631	0.563000	0.77884	TCA	COL2A1	-	NULL	ENSG00000139219		0.642	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL2A1	HGNC	protein_coding	OTTHUMT00000313810.2	46	0.00	0	G	NM_001844		48370913	48370913	-1	no_errors	ENST00000380518	ensembl	human	known	69_37n	nonsense	48	22.58	14	SNP	0.998	T
COL3A1	1281	genome.wustl.edu	37	2	189875004	189875004	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:189875004G>C	ENST00000304636.3	+	49	4094	c.3924G>C	c.(3922-3924)ttG>ttC	p.L1308F	COL3A1_ENST00000317840.5_Missense_Mutation_p.L1005F	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1308	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				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)	CCAATCCTTTGAATGTTCCAC	0.433																																						dbGAP											0													145.0	140.0	142.0					2																	189875004		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.3924G>C	2.37:g.189875004G>C	ENSP00000304408:p.Leu1308Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_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.L1308F	ENST00000304636.3	37	c.3924	CCDS2297.1	2	.	.	.	.	.	.	.	.	.	.	G	5.098	0.203794	0.09704	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	T;T	0.73258	-0.73;-0.73	5.93	-2.45	0.06481	Fibrillar collagen, C-terminal (3);	1.929020	0.02994	N	0.147236	T	0.50411	0.1614	N	0.12746	0.255	0.09310	N	1	B	0.19073	0.033	B	0.21546	0.035	T	0.38887	-0.9640	10	0.56958	D	0.05	.	3.0068	0.06031	0.3396:0.3405:0.2283:0.0915	.	1308	P02461	CO3A1_HUMAN	F	1308;1005	ENSP00000304408:L1308F;ENSP00000315243:L1005F	ENSP00000304408:L1308F	L	+	3	2	COL3A1	189583249	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.139000	0.10358	-0.463000	0.06973	-0.844000	0.03045	TTG	COL3A1	-	pfam_Fib_collagen_C,smart_Fib_collagen_C	ENSG00000168542		0.433	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL3A1	HGNC	protein_coding	OTTHUMT00000255899.3	96	0.00	0	G	NM_000090		189875004	189875004	+1	no_errors	ENST00000304636	ensembl	human	known	69_37n	missense	101	18.55	23	SNP	0.000	C
COL4A1	1282	genome.wustl.edu	37	13	110827075	110827075	+	Missense_Mutation	SNP	A	A	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr13:110827075A>T	ENST00000375820.4	-	38	3341	c.3220T>A	c.(3220-3222)Ttc>Atc	p.F1074I		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1074	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)			CTTCCTGGGAAACCCGCTATC	0.493																																						dbGAP											0													145.0	156.0	153.0					13																	110827075		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.3220T>A	13.37:g.110827075A>T	ENSP00000364979:p.Phe1074Ile	Somatic		WXS	Illumina GAIIx	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.F1074I	ENST00000375820.4	37	c.3220	CCDS9511.1	13	.	.	.	.	.	.	.	.	.	.	A	13.45	2.240385	0.39598	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198	D	0.96011	-3.88	5.8	5.8	0.92144	.	0.307408	0.35677	N	0.003059	D	0.92146	0.7510	N	0.08118	0	0.33478	D	0.587066	D	0.60575	0.988	D	0.65684	0.937	D	0.90150	0.4220	10	0.20046	T	0.44	.	5.5745	0.17215	0.7294:0.0:0.079:0.1916	.	1074	P02462	CO4A1_HUMAN	I	717;1074;723	ENSP00000364979:F1074I	ENSP00000364973:F717I	F	-	1	0	COL4A1	109625076	0.817000	0.29147	0.686000	0.30086	0.515000	0.34225	1.817000	0.39002	2.209000	0.71365	0.533000	0.62120	TTC	COL4A1	-	pfam_Collagen	ENSG00000187498		0.493	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A1	HGNC	protein_coding	OTTHUMT00000045759.3	53	0.00	0	A			110827075	110827075	-1	no_errors	ENST00000375820	ensembl	human	known	69_37n	missense	29	43.14	22	SNP	0.445	T
COL4A2	1284	genome.wustl.edu	37	13	111088619	111088619	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr13:111088619G>A	ENST00000360467.5	+	13	1036	c.730G>A	c.(730-732)Gac>Aac	p.D244N		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	244	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TATGCAGGGTGACGTAGGGCA	0.468																																						dbGAP											0													74.0	77.0	76.0					13																	111088619		1902	4124	6026	-	-	-	SO:0001583	missense	0			AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.730G>A	13.37:g.111088619G>A	ENSP00000353654:p.Asp244Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.D244N	ENST00000360467.5	37	c.730	CCDS41907.1	13	.	.	.	.	.	.	.	.	.	.	G	12.85	2.061134	0.36373	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.94232	-3.38	4.84	4.84	0.62591	.	0.368412	0.23041	N	0.052611	D	0.94128	0.8117	M	0.75447	2.3	0.46044	D	0.998832	P	0.52842	0.956	P	0.50825	0.651	D	0.93044	0.6460	10	0.33940	T	0.23	.	13.8204	0.63315	0.0:0.0:1.0:0.0	.	244	P08572	CO4A2_HUMAN	N	244	ENSP00000353654:D244N	ENSP00000257309:D244N	D	+	1	0	COL4A2	109886620	0.923000	0.31300	0.766000	0.31476	0.042000	0.13812	4.057000	0.57455	2.391000	0.81399	0.555000	0.69702	GAC	COL4A2	-	NULL	ENSG00000134871		0.468	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A2	HGNC	protein_coding	OTTHUMT00000045761.2	84	0.00	0	G	NM_001846		111088619	111088619	+1	no_errors	ENST00000360467	ensembl	human	known	69_37n	missense	42	51.16	44	SNP	0.979	A
COL4A5	1287	genome.wustl.edu	37	X	107920853	107920853	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:107920853C>T	ENST00000361603.2	+	42	4158	c.3914C>T	c.(3913-3915)cCa>cTa	p.P1305L	Y_RNA_ENST00000384417.1_RNA|COL4A5_ENST00000328300.6_Missense_Mutation_p.P1311L	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1305	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CAAGGACCACCAGGACTCCAG	0.443									Alport syndrome with Diffuse Leiomyomatosis																													dbGAP											0													69.0	61.0	64.0					X																	107920853		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.3914C>T	X.37:g.107920853C>T	ENSP00000354505:p.Pro1305Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.P1311L	ENST00000361603.2	37	c.3932	CCDS14543.1	X	.	.	.	.	.	.	.	.	.	.	C	24.5	4.536687	0.85812	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.96885	-3.17;-4.16	5.41	5.41	0.78517	.	0.057617	0.64402	D	0.000001	D	0.96864	0.8976	M	0.76838	2.35	0.80722	D	1	P;P	0.50710	0.938;0.938	P;P	0.49047	0.599;0.599	D	0.96634	0.9469	10	0.44086	T	0.13	.	18.5073	0.90902	0.0:1.0:0.0:0.0	.	1308;1305	E7EVY4;P29400	.;CO4A5_HUMAN	L	1311;1305;1311	ENSP00000331902:P1311L;ENSP00000354505:P1305L	ENSP00000331902:P1311L	P	+	2	0	COL4A5	107807509	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.696000	0.68287	2.400000	0.81607	0.594000	0.82650	CCA	COL4A5	-	pfam_Collagen	ENSG00000188153		0.443	COL4A5-001	KNOWN	basic|CCDS	protein_coding	COL4A5	HGNC	protein_coding	OTTHUMT00000057880.2	45	0.00	0	C			107920853	107920853	+1	no_errors	ENST00000328300	ensembl	human	known	69_37n	missense	32	30.43	14	SNP	1.000	T
COL5A1	1289	genome.wustl.edu	37	9	137688259	137688259	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:137688259G>A	ENST00000371817.3	+	35	3253	c.2839G>A	c.(2839-2841)Gaa>Aaa	p.E947K		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	947	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCCTCCTGGTGAACGGGTAAG	0.602																																						dbGAP											0													70.0	73.0	72.0					9																	137688259		2203	4300	6503	-	-	-	SO:0001583	missense	0			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.2839G>A	9.37:g.137688259G>A	ENSP00000360882:p.Glu947Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15094|Q5SUX4	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C	p.E947K	ENST00000371817.3	37	c.2839	CCDS6982.1	9	.	.	.	.	.	.	.	.	.	.	G	23.6	4.434338	0.83776	.	.	ENSG00000130635	ENST00000371817	T	0.40476	1.03	4.51	4.51	0.55191	.	0.000000	0.85682	U	0.000000	T	0.60314	0.2259	L	0.58969	1.84	0.58432	D	0.999999	P	0.52842	0.956	D	0.65010	0.931	T	0.65121	-0.6245	10	0.72032	D	0.01	.	17.1987	0.86900	0.0:0.0:1.0:0.0	.	947	P20908	CO5A1_HUMAN	K	947	ENSP00000360882:E947K	ENSP00000360882:E947K	E	+	1	0	COL5A1	136828080	1.000000	0.71417	0.797000	0.32132	0.581000	0.36288	8.503000	0.90509	2.048000	0.60808	0.297000	0.19635	GAA	COL5A1	-	NULL	ENSG00000130635		0.602	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A1	HGNC	protein_coding	OTTHUMT00000054954.2	69	0.00	0	G	NM_000093		137688259	137688259	+1	no_errors	ENST00000371817	ensembl	human	known	69_37n	missense	56	23.29	17	SNP	0.998	A
COL6A2	1292	genome.wustl.edu	37	21	47545703	47545703	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr21:47545703G>A	ENST00000300527.4	+	26	2078	c.1974G>A	c.(1972-1974)acG>acA	p.T658T	COL6A2_ENST00000397763.1_Silent_p.T658T|COL6A2_ENST00000310645.5_Silent_p.T658T|COL6A2_ENST00000409416.1_Silent_p.T658T|COL6A2_ENST00000357838.4_Silent_p.T658T	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	658	Nonhelical region.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		TTGCAGGGACGCGTGTGGGCG	0.652																																						dbGAP											0													41.0	35.0	37.0					21																	47545703		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.1974G>A	21.37:g.47545703G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Silent	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.T658	ENST00000300527.4	37	c.1974	CCDS13728.1	21																																																																																			COL6A2	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000142173		0.652	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A2	HGNC	protein_coding	OTTHUMT00000206971.1	18	0.00	0	G			47545703	47545703	+1	no_errors	ENST00000300527	ensembl	human	known	69_37n	silent	9	50.00	9	SNP	0.497	A
COL6A3	1293	genome.wustl.edu	37	2	238303764	238303764	+	Missense_Mutation	SNP	G	G	C	rs398124119		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:238303764G>C	ENST00000295550.4	-	3	627	c.175C>G	c.(175-177)Cga>Gga	p.R59G	COL6A3_ENST00000353578.4_Intron|COL6A3_ENST00000392004.3_Intron|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000346358.4_Missense_Mutation_p.R59G|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000409809.1_Intron|COL6A3_ENST00000347401.3_Missense_Mutation_p.R59G	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	59	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AGAAACTCTCGAACAAGTTGG	0.388																																						dbGAP											0													40.0	42.0	41.0					2																	238303764		2203	4300	6503	-	-	-	SO:0001583	missense	0			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.175C>G	2.37:g.238303764G>C	ENSP00000295550:p.Arg59Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.R59G	ENST00000295550.4	37	c.175	CCDS33412.1	2	.	.	.	.	.	.	.	.	.	.	G	11.48	1.650658	0.29336	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000346358;ENST00000433762	D;D;D;D	0.84660	-1.88;-1.88;-1.88;-1.88	4.63	4.63	0.57726	von Willebrand factor, type A (3);	0.000000	0.37178	U	0.002211	D	0.91901	0.7436	M	0.81614	2.55	0.32299	N	0.56522	D;D	0.65815	0.995;0.991	P;P	0.62649	0.905;0.905	D	0.93907	0.7193	10	0.87932	D	0	.	17.5698	0.87932	0.0:0.0:1.0:0.0	.	59;59	E9PCV6;P12111	.;CO6A3_HUMAN	G	59	ENSP00000295550:R59G;ENSP00000315609:R59G;ENSP00000295546:R59G;ENSP00000389539:R59G	ENSP00000295550:R59G	R	-	1	2	COL6A3	237968503	1.000000	0.71417	0.931000	0.37212	0.963000	0.63663	6.849000	0.75414	2.115000	0.64714	0.449000	0.29647	CGA	COL6A3	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000163359		0.388	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	HGNC	protein_coding	OTTHUMT00000315790.2	24	0.00	0	G	NM_004369		238303764	238303764	-1	no_errors	ENST00000295550	ensembl	human	known	69_37n	missense	26	18.75	6	SNP	1.000	C
COL6A5	256076	genome.wustl.edu	37	3	130095532	130095532	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:130095532G>A	ENST00000432398.2	+	3	1014	c.520G>A	c.(520-522)Gag>Aag	p.E174K	COL6A5_ENST00000265379.6_Missense_Mutation_p.E174K	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	174	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						GAAAGCTTCTGAGGAAAATCT	0.493																																						dbGAP											0													83.0	82.0	82.0					3																	130095532		692	1591	2283	-	-	-	SO:0001583	missense	0			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.520G>A	3.37:g.130095532G>A	ENSP00000390895:p.Glu174Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.E174K	ENST00000432398.2	37	c.520		3	.	.	.	.	.	.	.	.	.	.	G	12.27	1.888736	0.33348	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	D;D	0.83837	-1.77;-1.77	5.14	4.25	0.50352	.	.	.	.	.	D	0.83562	0.5281	L	0.45352	1.415	0.19775	N	0.999952	D	0.58970	0.984	P	0.56700	0.804	T	0.72827	-0.4175	9	0.14252	T	0.57	.	13.6009	0.62018	0.0:0.4276:0.5723:0.0	.	174	A8TX70-2	.	K	174	ENSP00000390895:E174K;ENSP00000265379:E174K	ENSP00000265379:E174K	E	+	1	0	COL6A5	131578222	0.992000	0.36948	0.800000	0.32199	0.171000	0.22731	1.941000	0.40233	1.271000	0.44313	0.557000	0.71058	GAG	COL6A5	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000172752		0.493	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	HGNC	protein_coding		58	0.00	0	G	NM_153264		130095532	130095532	+1	no_errors	ENST00000265379	ensembl	human	known	69_37n	missense	64	27.27	24	SNP	0.399	A
COL6A5	256076	genome.wustl.edu	37	3	130110299	130110299	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:130110299G>A	ENST00000432398.2	+	7	3188	c.2694G>A	c.(2692-2694)aaG>aaA	p.K898K	COL6A5_ENST00000265379.6_Silent_p.K898K	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	898	Nonhelical region.|VWFA 5. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						AGGCTCTCAAGCACGCAAATG	0.483																																						dbGAP											0													117.0	90.0	98.0					3																	130110299		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.2694G>A	3.37:g.130110299G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Silent	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.K898	ENST00000432398.2	37	c.2694		3																																																																																			COL6A5	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000172752		0.483	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	HGNC	protein_coding		47	0.00	0	G	NM_153264		130110299	130110299	+1	no_errors	ENST00000265379	ensembl	human	known	69_37n	silent	41	39.71	27	SNP	0.000	A
COL7A1	1294	genome.wustl.edu	37	3	48623527	48623527	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:48623527G>A	ENST00000328333.8	-	27	3810	c.3703C>T	c.(3703-3705)Cag>Tag	p.Q1235*	COL7A1_ENST00000454817.1_Nonsense_Mutation_p.Q1235*	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1235	Nonhelical region (NC1).				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)		AAGGATGCCTGACACAGGGCT	0.567																																						dbGAP											0													87.0	96.0	93.0					3																	48623527		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			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.3703C>T	3.37:g.48623527G>A	ENSP00000332371:p.Gln1235*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14054|Q16507	Nonsense_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.Q1235*	ENST00000328333.8	37	c.3703	CCDS2773.1	3	.	.	.	.	.	.	.	.	.	.	G	40	8.134395	0.98670	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	.	.	.	4.62	4.62	0.57501	.	0.000000	0.43260	D	0.000588	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	10.7205	0.46038	0.0:0.0:0.7572:0.2428	.	.	.	.	X	1235	.	ENSP00000332371:Q1235X	Q	-	1	0	COL7A1	48598531	0.997000	0.39634	1.000000	0.80357	0.669000	0.39330	2.638000	0.46562	2.548000	0.85928	0.561000	0.74099	CAG	COL7A1	-	NULL	ENSG00000114270		0.567	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL7A1	HGNC	protein_coding	OTTHUMT00000257519.1	39	0.00	0	G	NM_000094		48623527	48623527	-1	no_errors	ENST00000328333	ensembl	human	known	69_37n	nonsense	26	33.33	13	SNP	0.995	A
COL6A5	256076	genome.wustl.edu	37	3	130124489	130124489	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:130124489G>A	ENST00000432398.2	+	14	4833	c.4339G>A	c.(4339-4341)Gcg>Acg	p.A1447T	COL6A5_ENST00000265379.6_Missense_Mutation_p.A1447T	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	1447	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						ATGTCCAGGGGCGTGGGGTCA	0.478																																						dbGAP											0													128.0	124.0	126.0					3																	130124489		692	1591	2283	-	-	-	SO:0001583	missense	0			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.4339G>A	3.37:g.130124489G>A	ENSP00000390895:p.Ala1447Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.A1447T	ENST00000432398.2	37	c.4339		3	.	.	.	.	.	.	.	.	.	.	G	1.853	-0.464514	0.04476	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	D;D	0.93426	-3.22;-3.22	5.38	-2.52	0.06346	.	.	.	.	.	D	0.85208	0.5644	N	0.25485	0.75	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.68100	-0.5498	9	0.13108	T	0.6	.	9.861	0.41114	0.2044:0.5702:0.2253:0.0	.	1447	A8TX70-2	.	T	1447	ENSP00000390895:A1447T;ENSP00000265379:A1447T	ENSP00000265379:A1447T	A	+	1	0	COL6A5	131607179	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.043000	0.12043	-0.975000	0.03546	-0.314000	0.08810	GCG	COL6A5	-	pfam_Collagen	ENSG00000172752		0.478	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	HGNC	protein_coding		76	0.00	0	G	NM_153264		130124489	130124489	+1	no_errors	ENST00000265379	ensembl	human	known	69_37n	missense	76	16.48	15	SNP	0.000	A
COL9A1	1297	genome.wustl.edu	37	6	71003884	71003884	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:71003884G>A	ENST00000357250.6	-	5	840	c.682C>T	c.(682-684)Caa>Taa	p.Q228*	COL9A1_ENST00000370496.3_Nonsense_Mutation_p.Q228*	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	228	Laminin G-like.|Nonhelical region (NC4).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	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)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						ACAGAAACTTGAGGATTATCT	0.373																																						dbGAP											0													123.0	118.0	120.0					6																	71003884		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.682C>T	6.37:g.71003884G>A	ENSP00000349790:p.Gln228*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Nonsense_Mutation	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl,smart_Laminin_G	p.Q228*	ENST00000357250.6	37	c.682	CCDS4971.1	6	.	.	.	.	.	.	.	.	.	.	G	37	6.170272	0.97343	.	.	ENSG00000112280	ENST00000357250;ENST00000370496	.	.	.	5.77	4.89	0.63831	.	0.208574	0.42682	D	0.000674	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	15.379	0.74637	0.0:0.2639:0.7361:0.0	.	.	.	.	X	228	.	ENSP00000349790:Q228X	Q	-	1	0	COL9A1	71060605	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.483000	0.45233	1.548000	0.49413	0.650000	0.86243	CAA	COL9A1	-	superfamily_ConA-like_lec_gl,smart_Laminin_G	ENSG00000112280		0.373	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL9A1	HGNC	protein_coding	OTTHUMT00000041131.2	82	0.00	0	G			71003884	71003884	-1	no_errors	ENST00000357250	ensembl	human	known	69_37n	nonsense	47	39.74	31	SNP	1.000	A
COMMD1	150684	genome.wustl.edu	37	2	62228064	62228064	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:62228064C>G	ENST00000311832.5	+	2	441	c.409C>G	c.(409-411)Caa>Gaa	p.Q137E	COMMD1_ENST00000472729.1_3'UTR|COMMD1_ENST00000538736.1_Missense_Mutation_p.Q137E	NM_152516.2	NP_689729.1	Q8N668	COMD1_HUMAN	copper metabolism (Murr1) domain containing 1	137	COMM. {ECO:0000255|PROSITE- ProRule:PRU00602}.				copper ion homeostasis (GO:0055070)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of protein ubiquitination (GO:0031398)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)	Cul2-RING ubiquitin ligase complex (GO:0031462)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			large_intestine(1)|liver(2)|lung(5)|ovary(1)	9	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;4.73e-07)|Epithelial(17;0.0216)|all cancers(80;0.0934)			GCACTCAGCTCAAATACACAC	0.453																																						dbGAP											0													74.0	77.0	76.0					2																	62228064		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC022046	CCDS1869.1	2p15	2004-03-02	2004-02-13	2004-02-18	ENSG00000173163	ENSG00000173163			23024	protein-coding gene	gene with protein product	"""copper metabolism gene MURR1"""	607238	"""chromosome 2 open reading frame 5 (MURR1)"""	C2orf5		9001233, 11809725	Standard	NM_152516		Approved	MURR1, MGC27155	uc002sbp.3	Q8N668	OTTHUMG00000129445	ENST00000311832.5:c.409C>G	2.37:g.62228064C>G	ENSP00000308236:p.Gln137Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DFQ4|Q96GS0	Missense_Mutation	SNP	pfam_HCaRG	p.Q137E	ENST00000311832.5	37	c.409	CCDS1869.1	2	.	.	.	.	.	.	.	.	.	.	C	8.475	0.858431	0.17178	.	.	ENSG00000173163	ENST00000311832;ENST00000538736	T;T	0.08370	3.1;3.1	5.88	5.0	0.66597	COMM domain (1);	0.470211	0.25813	N	0.028134	T	0.12561	0.0305	M	0.65975	2.015	0.25280	N	0.989443	B	0.14438	0.01	B	0.13407	0.009	T	0.15954	-1.0419	10	0.20519	T	0.43	.	16.7842	0.85570	0.0:0.8708:0.1292:0.0	.	137	Q8N668	COMD1_HUMAN	E	137	ENSP00000308236:Q137E;ENSP00000438961:Q137E	ENSP00000308236:Q137E	Q	+	1	0	COMMD1	62081568	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	3.258000	0.51507	1.499000	0.48617	0.460000	0.39030	CAA	COMMD1	-	pfam_HCaRG	ENSG00000173163		0.453	COMMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COMMD1	HGNC	protein_coding	OTTHUMT00000251607.2	78	0.00	0	C	NM_152516		62228064	62228064	+1	no_errors	ENST00000311832	ensembl	human	known	69_37n	missense	71	20.00	18	SNP	0.590	G
COMMD10	51397	genome.wustl.edu	37	5	115426815	115426815	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:115426815C>G	ENST00000274458.4	+	3	234	c.172C>G	c.(172-174)Caa>Gaa	p.Q58E	COMMD10_ENST00000515539.1_Missense_Mutation_p.Q44E	NM_016144.2	NP_057228.1	Q9Y6G5	COMDA_HUMAN	COMM domain containing 10	58										endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(2)	9		all_cancers(142;0.0834)|all_epithelial(76;0.00314)|Prostate(80;0.0102)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;4.3e-07)|Epithelial(69;8.06e-07)|all cancers(49;4.06e-05)		AGAAAAACTTCAAGCGGCATT	0.313																																						dbGAP											0													65.0	69.0	68.0					5																	115426815		2202	4295	6497	-	-	-	SO:0001583	missense	0			AY542165	CCDS34215.1	5q23.1	2008-02-05				ENSG00000145781			30201	protein-coding gene	gene with protein product						15799966	Standard	NM_016144		Approved	PTD002	uc003krt.1	Q9Y6G5		ENST00000274458.4:c.172C>G	5.37:g.115426815C>G	ENSP00000274458:p.Gln58Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DT07|Q9P077	Missense_Mutation	SNP	pfam_HCaRG	p.Q58E	ENST00000274458.4	37	c.172	CCDS34215.1	5	.	.	.	.	.	.	.	.	.	.	C	18.61	3.660907	0.67700	.	.	ENSG00000145781	ENST00000274458;ENST00000515539;ENST00000506589	T;T;T	0.09163	3.01;3.01;3.01	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.23688	0.0573	M	0.85299	2.745	0.43593	D	0.995945	P	0.43857	0.819	B	0.43728	0.429	T	0.02391	-1.1166	10	0.40728	T	0.16	-3.2411	17.0389	0.86483	0.0:1.0:0.0:0.0	.	58	Q9Y6G5	COMDA_HUMAN	E	58;44;14	ENSP00000274458:Q58E;ENSP00000427319:Q44E;ENSP00000424611:Q14E	ENSP00000274458:Q58E	Q	+	1	0	COMMD10	115454714	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	6.130000	0.71663	2.629000	0.89072	0.655000	0.94253	CAA	COMMD10	-	pfam_HCaRG	ENSG00000145781		0.313	COMMD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COMMD10	HGNC	protein_coding	OTTHUMT00000371033.1	66	0.00	0	C	NM_016144		115426815	115426815	+1	no_errors	ENST00000274458	ensembl	human	known	69_37n	missense	46	26.98	17	SNP	1.000	G
COMMD9	29099	genome.wustl.edu	37	11	36297734	36297734	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:36297734C>T	ENST00000263401.5	-	5	425	c.409G>A	c.(409-411)Gac>Aac	p.D137N	COMMD9_ENST00000452374.2_Missense_Mutation_p.D95N|COMMD9_ENST00000532705.1_Missense_Mutation_p.R125K|LINC00610_ENST00000355500.1_lincRNA|COMMD9_ENST00000533308.1_5'Flank	NM_014186.3	NP_054905.2	Q9P000	COMD9_HUMAN	COMM domain containing 9	137	COMM. {ECO:0000255|PROSITE- ProRule:PRU00602}.									kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	5	all_lung(20;0.211)	all_hematologic(20;0.107)				CTGATGCTGTCTGAGGAGGTT	0.557																																						dbGAP											0													116.0	95.0	102.0					11																	36297734		2202	4298	6500	-	-	-	SO:0001583	missense	0			AY542164	CCDS7900.1, CCDS44571.1	11p13	2008-02-05			ENSG00000110442	ENSG00000110442			25014	protein-coding gene	gene with protein product		612299				15799966	Standard	NM_014186		Approved	HSPC166, FLJ31106	uc001mwn.4	Q9P000	OTTHUMG00000166333	ENST00000263401.5:c.409G>A	11.37:g.36297734C>T	ENSP00000263401:p.Asp137Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PAN2|Q96FI2|Q9H0R0	Missense_Mutation	SNP	pfam_HCaRG	p.D137N	ENST00000263401.5	37	c.409	CCDS7900.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.73|16.73	3.205011|3.205011	0.58234|0.58234	.|.	.|.	ENSG00000110442|ENSG00000110442	ENST00000263401;ENST00000537683;ENST00000452374|ENST00000532705	T;T|.	0.09911|.	2.93;2.93|.	5.73|5.73	5.73|5.73	0.89815|0.89815	COMM domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68118|0.68118	0.2966|0.2966	M|M	0.70595|0.70595	2.14|2.14	0.31713|0.31713	N|N	0.639249|0.639249	D;D|.	0.89917|.	0.98;1.0|.	P;D|.	0.91635|.	0.791;0.999|.	T|T	0.71407|0.71407	-0.4602|-0.4602	10|6	0.27785|0.48119	T|T	0.31|0.1	-22.1701|-22.1701	18.669|18.669	0.91504|0.91504	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	95;137|.	Q9P000-2;Q9P000|.	.;COMD9_HUMAN|.	N|K	137;137;95|125	ENSP00000263401:D137N;ENSP00000392510:D95N|.	ENSP00000263401:D137N|ENSP00000435599:R125K	D|R	-|-	1|2	0|0	COMMD9|COMMD9	36254310|36254310	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.684000|0.684000	0.39900|0.39900	6.610000|6.610000	0.74178|0.74178	2.693000|2.693000	0.91896|0.91896	0.563000|0.563000	0.77884|0.77884	GAC|AGA	COMMD9	-	pfam_HCaRG	ENSG00000110442		0.557	COMMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COMMD9	HGNC	protein_coding	OTTHUMT00000389196.1	70	0.00	0	C	NM_014186		36297734	36297734	-1	no_errors	ENST00000263401	ensembl	human	known	69_37n	missense	54	35.71	30	SNP	1.000	T
COPB2	9276	genome.wustl.edu	37	3	139092190	139092190	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:139092190G>C	ENST00000333188.5	-	9	1140	c.959C>G	c.(958-960)tCa>tGa	p.S320*	COPB2_ENST00000507777.1_Nonsense_Mutation_p.S291*	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	320					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						CTGGACTTCTGAATGCTTGGC	0.438																																						dbGAP											0													126.0	119.0	121.0					3																	139092190		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC000326	CCDS3108.1	3q23	2013-01-10			ENSG00000184432	ENSG00000184432		"""WD repeat domain containing"""	2232	protein-coding gene	gene with protein product		606990				9858824	Standard	NM_004766		Approved	beta'-COP, betaprime-COP	uc003etf.4	P35606	OTTHUMG00000159959	ENST00000333188.5:c.959C>G	3.37:g.139092190G>C	ENSP00000329419:p.Ser320*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZI8	Nonsense_Mutation	SNP	pirsf_Coatomer_b'su,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S320*	ENST00000333188.5	37	c.959	CCDS3108.1	3	.	.	.	.	.	.	.	.	.	.	G	38	6.748135	0.97809	.	.	ENSG00000184432	ENST00000333188;ENST00000507777	.	.	.	5.66	5.66	0.87406	.	0.111039	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-21.4928	19.7357	0.96202	0.0:0.0:1.0:0.0	.	.	.	.	X	320;291	.	ENSP00000329419:S320X	S	-	2	0	COPB2	140574880	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.553000	0.73918	2.668000	0.90789	0.591000	0.81541	TCA	COPB2	-	pirsf_Coatomer_b'su,pfam_Coatomer_WD-assoc_reg,superfamily_WD40_repeat_dom	ENSG00000184432		0.438	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPB2	HGNC	protein_coding	OTTHUMT00000358495.2	177	0.00	0	G	NM_004766		139092190	139092190	-1	no_errors	ENST00000333188	ensembl	human	known	69_37n	nonsense	180	12.14	25	SNP	1.000	C
COPG2	26958	genome.wustl.edu	37	7	130295837	130295837	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:130295837C>G	ENST00000445977.2	-	9	813	c.724G>C	c.(724-726)Gaa>Caa	p.E242Q				Q9UBF2	COPG2_HUMAN	coatomer protein complex, subunit gamma 2	242					intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)	structural molecule activity (GO:0005198)			large_intestine(1)	1	Melanoma(18;0.0435)					TCCTCAGTTTCTTTTAGTAAG	0.363																																						dbGAP											0													127.0	120.0	122.0					7																	130295837		1864	4104	5968	-	-	-	SO:0001583	missense	0			AF157833	CCDS75662.1	7q32	2010-06-22			ENSG00000158623	ENSG00000158623			2237	protein-coding gene	gene with protein product	"""coat protein, nonclathrin, gamma-2-cop"""	604355				10556286, 10995575	Standard	NM_001290033		Approved	2-COP	uc003vqh.1	Q9UBF2	OTTHUMG00000155364	ENST00000445977.2:c.724G>C	7.37:g.130295837C>G	ENSP00000393912:p.Glu242Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NH74|Q2NLA0|Q54AC3|Q8WVW8	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold	p.E242Q	ENST00000445977.2	37	c.724		7	.	.	.	.	.	.	.	.	.	.	C	23.5	4.427744	0.83667	.	.	ENSG00000158623	ENST00000445977;ENST00000330992	T;T	0.24538	1.85;1.85	5.31	5.31	0.75309	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	U	0.000000	T	0.39200	0.1069	L	0.60904	1.88	0.80722	D	1	P	0.45902	0.868	P	0.50570	0.644	T	0.08513	-1.0718	10	0.45353	T	0.12	-12.0742	17.566	0.87920	0.0:1.0:0.0:0.0	.	242	Q9UBF2	COPG2_HUMAN	Q	242	ENSP00000393912:E242Q;ENSP00000331218:E242Q	ENSP00000331218:E242Q	E	-	1	0	COPG2	129946374	1.000000	0.71417	0.996000	0.52242	0.860000	0.49131	7.584000	0.82572	2.498000	0.84270	0.561000	0.74099	GAA	COPG2	-	superfamily_ARM-type_fold	ENSG00000158623		0.363	COPG2-201	KNOWN	basic|appris_principal	protein_coding	COPG2	HGNC	protein_coding		95	0.00	0	C	NM_012133		130295837	130295837	-1	no_errors	ENST00000445977	ensembl	human	known	69_37n	missense	100	25.74	35	SNP	1.000	G
CORO1C	23603	genome.wustl.edu	37	12	109041232	109041232	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:109041232G>C	ENST00000261401.3	-	11	1544	c.1372C>G	c.(1372-1374)Caa>Gaa	p.Q458E	CORO1C_ENST00000421578.2_Missense_Mutation_p.Q353E|CORO1C_ENST00000549384.1_5'UTR|CORO1C_ENST00000420959.2_Missense_Mutation_p.Q511E|CORO1C_ENST00000549772.1_Missense_Mutation_p.Q464E|CORO1C_ENST00000541050.1_Missense_Mutation_p.Q458E	NM_001105237.2|NM_001276471.1|NM_014325.2	NP_001098707.1|NP_001263400.1|NP_055140.1	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C	458					actin cytoskeleton organization (GO:0030036)|phagocytosis (GO:0006909)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						CGCTCATCTTGATTGCAGATT	0.393																																						dbGAP											0													158.0	153.0	155.0					12																	109041232		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC002342	CCDS9120.1, CCDS61236.1	12q24.1	2013-01-10	2001-11-28			ENSG00000110880		"""Coronins"", ""WD repeat domain containing"""	2254	protein-coding gene	gene with protein product		605269	"""coronin, actin-binding protein, 1C"""			9778037, 10461187	Standard	NM_014325		Approved	coronin-3, HCRNN4	uc009zva.4	Q9ULV4		ENST00000261401.3:c.1372C>G	12.37:g.109041232G>C	ENSP00000261401:p.Gln458Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MAP0|A7MAP1|B3KU12|Q9NSK5	Missense_Mutation	SNP	pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q511E	ENST00000261401.3	37	c.1531	CCDS9120.1	12	.	.	.	.	.	.	.	.	.	.	G	19.02	3.746652	0.69418	.	.	ENSG00000110880	ENST00000261401;ENST00000541050;ENST00000546705;ENST00000421578;ENST00000549772;ENST00000420959	T;T;T;T;T;T	0.65916	-0.12;-0.12;0.74;1.1;-0.06;-0.18	5.89	5.89	0.94794	.	0.054850	0.85682	D	0.000000	T	0.73900	0.3646	M	0.84433	2.695	0.80722	D	1	P;B;P	0.38167	0.621;0.216;0.621	B;B;B	0.43155	0.317;0.128;0.41	T	0.74553	-0.3627	10	0.45353	T	0.12	-17.0797	20.2566	0.98424	0.0:0.0:1.0:0.0	.	421;511;458	B4DMH3;A7MAP1;Q9ULV4	.;.;COR1C_HUMAN	E	458;458;149;353;464;511	ENSP00000261401:Q458E;ENSP00000438341:Q458E;ENSP00000447337:Q149E;ENSP00000415554:Q353E;ENSP00000447534:Q464E;ENSP00000394496:Q511E	ENSP00000261401:Q458E	Q	-	1	0	CORO1C	107565361	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.441000	0.97557	2.793000	0.96121	0.561000	0.74099	CAA	CORO1C	-	NULL	ENSG00000110880		0.393	CORO1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORO1C	HGNC	protein_coding	OTTHUMT00000403802.1	153	0.00	0	G	NM_014325		109041232	109041232	-1	no_errors	ENST00000420959	ensembl	human	known	69_37n	missense	188	11.68	25	SNP	1.000	C
CORO1C	23603	genome.wustl.edu	37	12	109055908	109055908	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:109055908G>A	ENST00000261401.3	-	4	517	c.345C>T	c.(343-345)ctC>ctT	p.L115L	CORO1C_ENST00000541050.1_Silent_p.L115L|CORO1C_ENST00000421578.2_Silent_p.L10L|CORO1C_ENST00000420959.2_Silent_p.L168L|CORO1C_ENST00000549772.1_Silent_p.L121L|CORO1C_ENST00000549384.1_Intron	NM_001105237.2|NM_001276471.1|NM_014325.2	NP_001098707.1|NP_001263400.1|NP_055140.1	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C	115					actin cytoskeleton organization (GO:0030036)|phagocytosis (GO:0006909)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						GGGAAAGGGTGAGTCCATTTT	0.478																																						dbGAP											0													103.0	81.0	89.0					12																	109055908		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC002342	CCDS9120.1, CCDS61236.1	12q24.1	2013-01-10	2001-11-28			ENSG00000110880		"""Coronins"", ""WD repeat domain containing"""	2254	protein-coding gene	gene with protein product		605269	"""coronin, actin-binding protein, 1C"""			9778037, 10461187	Standard	NM_014325		Approved	coronin-3, HCRNN4	uc009zva.4	Q9ULV4		ENST00000261401.3:c.345C>T	12.37:g.109055908G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A7MAP0|A7MAP1|B3KU12|Q9NSK5	Silent	SNP	pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L168	ENST00000261401.3	37	c.504	CCDS9120.1	12																																																																																			CORO1C	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000110880		0.478	CORO1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORO1C	HGNC	protein_coding	OTTHUMT00000403802.1	45	0.00	0	G	NM_014325		109055908	109055908	-1	no_errors	ENST00000420959	ensembl	human	known	69_37n	silent	66	14.29	11	SNP	0.997	A
CORO7	79585	genome.wustl.edu	37	16	4412094	4412094	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:4412094G>C	ENST00000251166.4	-	16	1615	c.1470C>G	c.(1468-1470)ctC>ctG	p.L490L	CORO7_ENST00000423908.2_Silent_p.L322L|CORO7_ENST00000539968.1_Silent_p.L270L|CORO7-PAM16_ENST00000572467.1_Silent_p.L490L|CORO7_ENST00000574025.1_Silent_p.L405L|CORO7_ENST00000537233.2_Silent_p.L472L|CORO7-PAM16_ENST00000572274.1_5'Flank	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	490					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)			breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						TGAGCCCCTTGAGGTTGGTGA	0.637																																						dbGAP											0													141.0	104.0	116.0					16																	4412094		2197	4298	6495	-	-	-	SO:0001819	synonymous_variant	0			AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"""Coronins"", ""WD repeat domain containing"""	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.1470C>G	16.37:g.4412094G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DFD6|B4DL18|I3L416|Q17RK4	Nonsense_Mutation	SNP	NULL	p.S52*	ENST00000251166.4	37	c.155	CCDS10513.1	16																																																																																			CORO7	-	NULL	ENSG00000262246		0.637	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORO7	Clone_based_vega_gene	protein_coding	OTTHUMT00000251628.2	60	0.00	0	G	NM_024535		4412094	4412094	-1	no_errors	ENST00000576437	ensembl	human	known	69_37n	nonsense	43	25.86	15	SNP	1.000	C
COTL1	23406	genome.wustl.edu	37	16	84651123	84651123	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:84651123G>C	ENST00000262428.4	-	2	306	c.144C>G	c.(142-144)ttC>ttG	p.F48L	COTL1_ENST00000564057.1_Intron	NM_021149.2	NP_066972.1	Q14019	COTL1_HUMAN	coactosin-like F-actin binding protein 1	48	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				defense response to fungus (GO:0050832)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	actin binding (GO:0003779)|enzyme binding (GO:0019899)			endometrium(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	6						ACTGCTGGATGAAGTGCTGGT	0.627																																						dbGAP											0													23.0	25.0	24.0					16																	84651123		2168	4244	6412	-	-	-	SO:0001583	missense	0			L54057	CCDS10947.1	16q24.1	2014-03-05	2014-03-05	2002-08-01	ENSG00000103187	ENSG00000103187			18304	protein-coding gene	gene with protein product		606748	"""coactosin-like 1 (Dictyostelium)"""			10051563, 9326934, 16924104	Standard	NM_021149		Approved	CLP	uc002fid.3	Q14019	OTTHUMG00000137634	ENST00000262428.4:c.144C>G	16.37:g.84651123G>C	ENSP00000262428:p.Phe48Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDU3|D3DUL9|Q86XM5	Missense_Mutation	SNP	pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin	p.F48L	ENST00000262428.4	37	c.144	CCDS10947.1	16	.	.	.	.	.	.	.	.	.	.	g	18.77	3.694771	0.68386	.	.	ENSG00000103187	ENST00000262428	T	0.34275	1.37	4.7	3.63	0.41609	Actin-binding, cofilin/tropomyosin type (3);	0.000000	0.85682	D	0.000000	T	0.31327	0.0793	L	0.40543	1.245	0.80722	D	1	P	0.35821	0.523	P	0.45167	0.472	T	0.08848	-1.0702	10	0.27785	T	0.31	-28.4581	4.2352	0.10621	0.2533:0.0:0.7467:0.0	.	48	Q14019	COTL1_HUMAN	L	48	ENSP00000262428:F48L	ENSP00000262428:F48L	F	-	3	2	COTL1	83208624	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.524000	0.45589	2.152000	0.67230	0.479000	0.44913	TTC	COTL1	-	pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin	ENSG00000103187		0.627	COTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COTL1	HGNC	protein_coding	OTTHUMT00000269075.1	39	0.00	0	G	NM_021149		84651123	84651123	-1	no_errors	ENST00000262428	ensembl	human	known	69_37n	missense	36	18.18	8	SNP	1.000	C
COX20	116228	genome.wustl.edu	37	1	245005157	245005157	+	Intron	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:245005157G>T	ENST00000411948.2	+	2	435				COX20_ENST00000366528.3_Intron|COX20_ENST00000498262.1_Intron	NM_198076.4	NP_932342.1	Q5RI15	COX20_HUMAN	COX20 cytochrome C oxidase assembly factor							integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)											TCAACTACAAGAAAAGAAATG	0.368																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			BC062419	CCDS31080.1	1q44	2013-05-24	2013-05-23	2012-02-24	ENSG00000203667	ENSG00000203667		"""Mitochondrial respiratory chain complex assembly factors"""	26970	protein-coding gene	gene with protein product		614698	"""family with sequence similarity 36, member A"", ""COX20 Cox2 chaperone homolog (S. cerevisiae)"""	FAM36A		22356826, 23125284	Standard	NM_198076		Approved	FLJ43269	uc001iar.3	Q5RI15	OTTHUMG00000040401	ENST00000411948.2:c.43-89G>T	1.37:g.245005157G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WV86	RNA	SNP	-	NULL	ENST00000411948.2	37	NULL	CCDS31080.1	1																																																																																			COX20	-	-	ENSG00000203667		0.368	COX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COX20	HGNC	protein_coding	OTTHUMT00000097174.1	44	0.00	0	G	NM_198076		245005157	245005157	+1	no_errors	ENST00000464757	ensembl	human	known	69_37n	rna	56	22.22	16	SNP	0.000	T
CPA2	1358	genome.wustl.edu	37	7	129916570	129916570	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:129916570C>T	ENST00000222481.4	+	7	743	c.688C>T	c.(688-690)Caa>Taa	p.Q230*		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	230					protein catabolic process in the vacuole (GO:0007039)	extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					CGTGTTCTCTCAAACCAAAGT	0.413																																						dbGAP											0													194.0	172.0	180.0					7																	129916570		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U19977	CCDS5817.2	7q32	2012-02-10			ENSG00000158516	ENSG00000158516	3.4.17.15		2297	protein-coding gene	gene with protein product		600688				7896805, 10860668	Standard	NM_001869		Approved		uc003vpq.3	P48052	OTTHUMG00000157019	ENST00000222481.4:c.688C>T	7.37:g.129916570C>T	ENSP00000222481:p.Gln230*	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1M4|C9JIK1|Q53XS1|Q96A12|Q96QN3|Q9UCF1	Nonsense_Mutation	SNP	pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14	p.Q230*	ENST00000222481.4	37	c.688	CCDS5817.2	7	.	.	.	.	.	.	.	.	.	.	C	19.32	3.804430	0.70682	.	.	ENSG00000158516	ENST00000222481	.	.	.	5.6	4.53	0.55603	.	0.215706	0.41294	D	0.000918	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.4664	0.67488	0.0:0.9171:0.0:0.0829	.	.	.	.	X	230	.	ENSP00000222481:Q230X	Q	+	1	0	CPA2	129703806	1.000000	0.71417	0.935000	0.37517	0.880000	0.50808	5.486000	0.66856	2.652000	0.90054	0.561000	0.74099	CAA	CPA2	-	pfam_Peptidase_M14,smart_Peptidase_M14	ENSG00000158516		0.413	CPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPA2	HGNC	protein_coding	OTTHUMT00000347124.2	160	0.00	0	C	NM_001869		129916570	129916570	+1	no_errors	ENST00000222481	ensembl	human	known	69_37n	nonsense	124	33.33	62	SNP	1.000	T
CPB1	1360	genome.wustl.edu	37	3	148558554	148558554	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:148558554G>C	ENST00000491148.1	+	5	688	c.354G>C	c.(352-354)aaG>aaC	p.K118N	CPB1_ENST00000282957.4_Missense_Mutation_p.K118N			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	118						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			GTTATGAGAAGTACAACAAGT	0.428																																						dbGAP											0													168.0	167.0	167.0					3																	148558554		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ224866	CCDS33874.1	3q24	2012-02-10			ENSG00000153002	ENSG00000153002	3.4.17.2		2299	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase B"", ""tissue carboxypeptidase B"", ""protaminase"""	114852					Standard	XM_005247124		Approved		uc003ewl.3	P15086	OTTHUMG00000159520	ENST00000491148.1:c.354G>C	3.37:g.148558554G>C	ENSP00000417222:p.Lys118Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O60834|Q53XJ0|Q96BQ8	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14	p.K118N	ENST00000491148.1	37	c.354	CCDS33874.1	3	.	.	.	.	.	.	.	.	.	.	G	14.96	2.690465	0.48097	.	.	ENSG00000153002	ENST00000491148;ENST00000282957;ENST00000468341	T;T;T	0.30182	1.54;1.54;1.63	5.29	4.42	0.53409	.	0.000000	0.85682	D	0.000000	T	0.47284	0.1437	M	0.63428	1.95	0.58432	D	0.999998	D	0.89917	1.0	D	0.78314	0.991	T	0.36939	-0.9727	10	0.32370	T	0.25	.	8.5994	0.33736	0.2832:0.0:0.7168:0.0	.	118	P15086	CBPB1_HUMAN	N	118	ENSP00000417222:K118N;ENSP00000282957:K118N;ENSP00000419427:K118N	ENSP00000282957:K118N	K	+	3	2	CPB1	150041244	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.702000	0.37836	1.234000	0.43709	0.655000	0.94253	AAG	CPB1	-	NULL	ENSG00000153002		0.428	CPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPB1	HGNC	protein_coding	OTTHUMT00000355928.1	109	0.00	0	G	NM_001871		148558554	148558554	+1	no_errors	ENST00000282957	ensembl	human	known	69_37n	missense	120	12.32	17	SNP	1.000	C
CPB1	1360	genome.wustl.edu	37	3	148577733	148577733	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:148577733G>A	ENST00000491148.1	+	12	1532	c.1198G>A	c.(1198-1200)Gag>Aag	p.E400K	RP11-680B3.2_ENST00000488190.1_RNA|CPB1_ENST00000498639.1_3'UTR|CPB1_ENST00000282957.4_Missense_Mutation_p.E400K			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	400						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TACCTGCGAGGAGACCTTCCT	0.448																																						dbGAP											0													80.0	78.0	79.0					3																	148577733		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ224866	CCDS33874.1	3q24	2012-02-10			ENSG00000153002	ENSG00000153002	3.4.17.2		2299	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase B"", ""tissue carboxypeptidase B"", ""protaminase"""	114852					Standard	XM_005247124		Approved		uc003ewl.3	P15086	OTTHUMG00000159520	ENST00000491148.1:c.1198G>A	3.37:g.148577733G>A	ENSP00000417222:p.Glu400Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O60834|Q53XJ0|Q96BQ8	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14	p.E400K	ENST00000491148.1	37	c.1198	CCDS33874.1	3	.	.	.	.	.	.	.	.	.	.	G	22.1	4.247752	0.80024	.	.	ENSG00000153002	ENST00000491148;ENST00000282957	T;T	0.36699	1.24;1.24	5.75	5.75	0.90469	Peptidase M14, carboxypeptidase A (2);	0.000000	0.85682	D	0.000000	T	0.75125	0.3807	H	0.97023	3.925	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83496	0.0072	10	0.87932	D	0	.	19.9525	0.97208	0.0:0.0:1.0:0.0	.	400	P15086	CBPB1_HUMAN	K	400	ENSP00000417222:E400K;ENSP00000282957:E400K	ENSP00000282957:E400K	E	+	1	0	CPB1	150060423	1.000000	0.71417	1.000000	0.80357	0.086000	0.17979	9.476000	0.97823	2.719000	0.93026	0.655000	0.94253	GAG	CPB1	-	pfam_Peptidase_M14,smart_Peptidase_M14	ENSG00000153002		0.448	CPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPB1	HGNC	protein_coding	OTTHUMT00000355928.1	49	0.00	0	G	NM_001871		148577733	148577733	+1	no_errors	ENST00000282957	ensembl	human	known	69_37n	missense	44	21.43	12	SNP	1.000	A
CPD	1362	genome.wustl.edu	37	17	28748752	28748752	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:28748752C>T	ENST00000225719.4	+	4	1284	c.1208C>T	c.(1207-1209)tCa>tTa	p.S403L	CPD_ENST00000543464.2_Missense_Mutation_p.S156L	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	403	Carboxypeptidase-like 1.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metallocarboxypeptidase activity (GO:0004181)|serine-type carboxypeptidase activity (GO:0004185)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						GCAACCATCTCAGTGGCTGGT	0.393																																						dbGAP											0													139.0	133.0	135.0					17																	28748752		2203	4300	6503	-	-	-	SO:0001583	missense	0			U65090	CCDS11257.1, CCDS56025.1	17q11.2	2012-02-10			ENSG00000108582	ENSG00000108582	3.4.17.22		2301	protein-coding gene	gene with protein product	"""metallocarboxypeptidase D"""	603102				9628828, 9355738	Standard	NM_001304		Approved	GP180	uc002hfb.2	O75976	OTTHUMG00000132797	ENST00000225719.4:c.1208C>T	17.37:g.28748752C>T	ENSP00000225719:p.Ser403Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Missense_Mutation	SNP	pfam_Peptidase_M14,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14	p.S403L	ENST00000225719.4	37	c.1208	CCDS11257.1	17	.	.	.	.	.	.	.	.	.	.	C	12.81	2.049694	0.36181	.	.	ENSG00000108582	ENST00000225719;ENST00000543464	T;T	0.46451	0.87;0.87	5.95	3.96	0.45880	Peptidase M14, carboxypeptidase A (1);Carboxypeptidase-like, regulatory domain (1);Carboxypeptidase, regulatory domain (1);	0.660314	0.14715	N	0.302678	T	0.42381	0.1200	M	0.66506	2.035	0.28307	N	0.92284	B;B	0.29835	0.002;0.258	B;B	0.32980	0.003;0.156	T	0.34925	-0.9809	10	0.31617	T	0.26	.	10.556	0.45118	0.0:0.7911:0.0:0.2089	.	156;403	F5GZH6;O75976	.;CBPD_HUMAN	L	403;156	ENSP00000225719:S403L;ENSP00000444443:S156L	ENSP00000225719:S403L	S	+	2	0	CPD	25772878	0.054000	0.20591	1.000000	0.80357	0.996000	0.88848	1.347000	0.33975	1.509000	0.48786	0.563000	0.77884	TCA	CPD	-	superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14	ENSG00000108582		0.393	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPD	HGNC	protein_coding	OTTHUMT00000256214.3	149	0.00	0	C	NM_001304		28748752	28748752	+1	no_errors	ENST00000225719	ensembl	human	known	69_37n	missense	128	17.42	27	SNP	0.903	T
CPD	1362	genome.wustl.edu	37	17	28778811	28778811	+	Nonsense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:28778811C>G	ENST00000225719.4	+	14	3228	c.3152C>G	c.(3151-3153)tCa>tGa	p.S1051*	CPD_ENST00000543464.2_Nonsense_Mutation_p.S804*|CPD_ENST00000584051.1_3'UTR	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	1051	Carboxypeptidase-like 3.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metallocarboxypeptidase activity (GO:0004181)|serine-type carboxypeptidase activity (GO:0004185)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						GACTGTACTTCAAAAATAGGA	0.383																																						dbGAP											0													122.0	119.0	120.0					17																	28778811		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U65090	CCDS11257.1, CCDS56025.1	17q11.2	2012-02-10			ENSG00000108582	ENSG00000108582	3.4.17.22		2301	protein-coding gene	gene with protein product	"""metallocarboxypeptidase D"""	603102				9628828, 9355738	Standard	NM_001304		Approved	GP180	uc002hfb.2	O75976	OTTHUMG00000132797	ENST00000225719.4:c.3152C>G	17.37:g.28778811C>G	ENSP00000225719:p.Ser1051*	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Nonsense_Mutation	SNP	pfam_Peptidase_M14,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14	p.S1051*	ENST00000225719.4	37	c.3152	CCDS11257.1	17	.	.	.	.	.	.	.	.	.	.	C	45	11.459442	0.99564	.	.	ENSG00000108582	ENST00000225719;ENST00000543464	.	.	.	5.34	5.34	0.76211	.	0.063355	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	18.4073	0.90539	0.0:1.0:0.0:0.0	.	.	.	.	X	1051;804	.	ENSP00000225719:S1051X	S	+	2	0	CPD	25802937	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	6.932000	0.75869	2.657000	0.90304	0.557000	0.71058	TCA	CPD	-	pfam_Peptidase_M14,smart_Peptidase_M14	ENSG00000108582		0.383	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPD	HGNC	protein_coding	OTTHUMT00000256214.3	130	0.00	0	C	NM_001304		28778811	28778811	+1	no_errors	ENST00000225719	ensembl	human	known	69_37n	nonsense	138	23.33	42	SNP	1.000	G
CPEB1	64506	genome.wustl.edu	37	15	83218294	83218294	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:83218294C>T	ENST00000562019.1	-	9	1646	c.1330G>A	c.(1330-1332)Gag>Aag	p.E444K	RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000568757.1_Missense_Mutation_p.E364K|RP11-152F13.10_ENST00000562833.1_Silent_p.L173L|CPEB1_ENST00000568128.1_Missense_Mutation_p.E439K|CPEB1_ENST00000398591.2_Missense_Mutation_p.E369K|CPEB1_ENST00000563800.1_Missense_Mutation_p.E466K|CPEB1_ENST00000450751.2_Missense_Mutation_p.E364K|CPEB1_ENST00000423133.2_Missense_Mutation_p.E364K|CPEB1_ENST00000398592.2_Missense_Mutation_p.E213K|CPEB1_ENST00000261723.6_Missense_Mutation_p.E442K|CPEB1_ENST00000564522.1_Missense_Mutation_p.E364K			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	444	Necessary for stress granule assembly and correct localization in dcp1 bodies.|RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to amino acid stimulus (GO:0071230)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|mRNA processing (GO:0006397)|negative regulation of cytoplasmic translation (GO:2000766)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			GCCAGGGCCTCAGCATTTAGC	0.527																																						dbGAP											0													86.0	84.0	85.0					15																	83218294		2037	4182	6219	-	-	-	SO:0001583	missense	0			AF329402	CCDS42072.1, CCDS45329.1, CCDS45330.1, CCDS42072.2, CCDS45329.2, CCDS45330.2	15q25.1	2008-02-05				ENSG00000214575			21744	protein-coding gene	gene with protein product		607342				11223249	Standard	NM_001079533		Approved	FLJ13203, CPEB	uc002biv.3	Q9BZB8		ENST00000562019.1:c.1330G>A	15.37:g.83218294C>T	ENSP00000457836:p.Glu444Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z6C6|Q86W46|Q8IV41|Q9BZB7|Q9H8V5	Missense_Mutation	SNP	pfscan_RRM_dom	p.E444K	ENST00000562019.1	37	c.1330		15	.	.	.	.	.	.	.	.	.	.	C	36	5.976744	0.97162	.	.	ENSG00000214575	ENST00000450751;ENST00000398593;ENST00000423133;ENST00000398591;ENST00000261723;ENST00000398592	T;T;T;T	0.27256	1.68;1.68;1.68;1.68	6.02	6.02	0.97574	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	U	0.000000	T	0.51568	0.1682	M	0.70275	2.135	0.80722	D	1	D;D;B;D	0.65815	0.995;0.995;0.216;0.995	P;D;B;D	0.63957	0.894;0.92;0.343;0.92	T	0.37454	-0.9705	10	0.46703	T	0.11	-13.7543	20.5407	0.99260	0.0:1.0:0.0:0.0	.	442;439;444;439	B7Z237;Q9BZB8-3;Q9BZB8;E7ET70	.;.;CPEB1_HUMAN;.	K	439;439;364;369;442;213	ENSP00000397526:E364K;ENSP00000381591:E369K;ENSP00000261723:E442K;ENSP00000381592:E213K	ENSP00000261723:E442K	E	-	1	0	CPEB1	81015349	1.000000	0.71417	0.980000	0.43619	0.971000	0.66376	7.760000	0.85248	2.865000	0.98341	0.655000	0.94253	GAG	CPEB1	-	pfscan_RRM_dom	ENSG00000214575		0.527	CPEB1-006	KNOWN	basic|appris_candidate_longest	protein_coding	CPEB1	HGNC	protein_coding	OTTHUMT00000421102.1	58	0.00	0	C	NM_030594		83218294	83218294	-1	no_errors	ENST00000562019	ensembl	human	known	69_37n	missense	35	12.50	5	SNP	1.000	T
CPEB4	80315	genome.wustl.edu	37	5	173380155	173380155	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:173380155C>T	ENST00000265085.5	+	9	3296	c.1842C>T	c.(1840-1842)acC>acT	p.T614T	CPEB4_ENST00000520867.1_Silent_p.T589T|CPEB4_ENST00000519467.1_3'UTR|CPEB4_ENST00000517880.1_Silent_p.T207T|CPEB4_ENST00000334035.5_Silent_p.T597T|CPEB4_ENST00000522336.1_Silent_p.T224T|CPEB4_ENST00000519835.1_Silent_p.T589T	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	614	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to amino acid stimulus (GO:0071230)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|response to ischemia (GO:0002931)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GGATTGATACCGACCCTGAGC	0.458																																						dbGAP											0													166.0	167.0	167.0					5																	173380155		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BX538213	CCDS4390.1	5q21	2013-02-12			ENSG00000113742	ENSG00000113742		"""RNA binding motif (RRM) containing"""	21747	protein-coding gene	gene with protein product		610607				11214970, 12672660	Standard	NM_030627		Approved	KIAA1673	uc003mcs.4	Q17RY0	OTTHUMG00000130541	ENST00000265085.5:c.1842C>T	5.37:g.173380155C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.T614	ENST00000265085.5	37	c.1842	CCDS4390.1	5																																																																																			CPEB4	-	smart_RRM_dom,pfscan_RRM_dom	ENSG00000113742		0.458	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPEB4	HGNC	protein_coding	OTTHUMT00000252964.2	122	0.00	0	C	NM_030627		173380155	173380155	+1	no_errors	ENST00000265085	ensembl	human	known	69_37n	silent	73	21.51	20	SNP	0.014	T
CPN2	1370	genome.wustl.edu	37	3	194063112	194063112	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:194063112C>A	ENST00000323830.3	-	2	409	c.320G>T	c.(319-321)aGt>aTt	p.S107I	CPN2_ENST00000429275.1_Missense_Mutation_p.S107I	NM_001080513.2	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	107					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)		CAAGAAGCTACTGCCTGTGAC	0.582																																						dbGAP											0													96.0	92.0	93.0					3																	194063112		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.320G>T	3.37:g.194063112C>A	ENSP00000319464:p.Ser107Ile	Somatic		WXS	Illumina GAIIx	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.S107I	ENST00000323830.3	37	c.320	CCDS33920.1	3	.	.	.	.	.	.	.	.	.	.	C	15.36	2.810011	0.50421	.	.	ENSG00000178772	ENST00000323830;ENST00000429275	T;T	0.25414	1.8;1.8	5.19	4.29	0.51040	.	0.336641	0.21791	N	0.069069	T	0.22820	0.0551	L	0.57536	1.79	0.29934	N	0.821635	P	0.45902	0.868	B	0.39805	0.31	T	0.34254	-0.9836	10	0.87932	D	0	.	5.3562	0.16063	0.0:0.65:0.1836:0.1664	.	107	P22792	CPN2_HUMAN	I	107	ENSP00000319464:S107I;ENSP00000402232:S107I	ENSP00000319464:S107I	S	-	2	0	CPN2	195544807	0.000000	0.05858	0.726000	0.30738	0.807000	0.45602	0.414000	0.21164	1.275000	0.44379	0.561000	0.74099	AGT	CPN2	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000178772		0.582	CPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPN2	HGNC	protein_coding	OTTHUMT00000342856.2	54	0.00	0	C	NM_001080513		194063112	194063112	-1	no_errors	ENST00000323830	ensembl	human	known	69_37n	missense	58	19.44	14	SNP	0.748	A
CPN2	1370	genome.wustl.edu	37	3	194063182	194063182	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:194063182G>A	ENST00000323830.3	-	2	339	c.250C>T	c.(250-252)Cag>Tag	p.Q84*	CPN2_ENST00000429275.1_Nonsense_Mutation_p.Q84*	NM_001080513.2	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	84					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)		TGGCAGAGCTGAGTGTTGAGG	0.532																																						dbGAP											0													126.0	115.0	119.0					3																	194063182		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			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.250C>T	3.37:g.194063182G>A	ENSP00000319464:p.Gln84*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPE7|Q86SU4|Q8N5V4	Nonsense_Mutation	SNP	pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.Q84*	ENST00000323830.3	37	c.250	CCDS33920.1	3	.	.	.	.	.	.	.	.	.	.	G	15.70	2.911920	0.52439	.	.	ENSG00000178772	ENST00000323830;ENST00000429275	.	.	.	5.19	2.12	0.27331	.	0.718488	0.11500	N	0.557794	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.5776	0.68262	0.0:0.0:0.5096:0.4904	.	.	.	.	X	84	.	ENSP00000319464:Q84X	Q	-	1	0	CPN2	195544877	0.000000	0.05858	0.013000	0.15412	0.599000	0.36880	0.208000	0.17415	0.653000	0.30826	0.561000	0.74099	CAG	CPN2	-	NULL	ENSG00000178772		0.532	CPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPN2	HGNC	protein_coding	OTTHUMT00000342856.2	62	0.00	0	G	NM_001080513		194063182	194063182	-1	no_errors	ENST00000323830	ensembl	human	known	69_37n	nonsense	61	26.51	22	SNP	0.000	A
CPS1	1373	genome.wustl.edu	37	2	211452781	211452781	+	Splice_Site	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:211452781G>A	ENST00000233072.5	+	7	817		c.e7-1		CPS1_ENST00000430249.2_Splice_Site	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial						anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	TAAAATGGCAGGATGTCAAAG	0.398																																						dbGAP											0													127.0	133.0	131.0					2																	211452781		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.622-1G>A	2.37:g.211452781G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Splice_Site	SNP	-	e8-1	ENST00000233072.5	37	c.640-1	CCDS2393.1	2	.	.	.	.	.	.	.	.	.	.	G	23.4	4.411311	0.83340	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000536125	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.244	0.98389	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CPS1	211161026	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	9.420000	0.97426	2.865000	0.98341	0.655000	0.94253	.	CPS1	-	-	ENSG00000021826		0.398	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPS1	HGNC	protein_coding	OTTHUMT00000256569.5	78	0.00	0	G		Intron	211452781	211452781	+1	no_errors	ENST00000430249	ensembl	human	known	69_37n	splice_site	73	21.51	20	SNP	1.000	A
CPS1	1373	genome.wustl.edu	37	2	211512593	211512593	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:211512593G>A	ENST00000233072.5	+	26	3344	c.3148G>A	c.(3148-3150)Ggt>Agt	p.G1050S	CPS1_ENST00000451903.2_Missense_Mutation_p.G599S|CPS1_ENST00000430249.2_Missense_Mutation_p.G1056S|CPS1_ENST00000497121.1_3'UTR	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1050					anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	CCAGGCATGTGGTGGCTGCAT	0.418																																						dbGAP											0													86.0	82.0	83.0					2																	211512593		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.3148G>A	2.37:g.211512593G>A	ENSP00000233072:p.Gly1050Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE_1,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,smart_MGS-like_dom,prints_CbamoylP_synth_lsu_CPSase_dom,pfscan_ATP-grasp,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu	p.G1056S	ENST00000233072.5	37	c.3166	CCDS2393.1	2	.	.	.	.	.	.	.	.	.	.	G	0.970	-0.700506	0.03279	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.97232	-4.3;-4.3;-4.3	5.35	-2.29	0.06805	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Carbamoyl-phosphate synthase, large subunit, N-terminal (1);	0.669513	0.16559	N	0.209107	D	0.84415	0.5467	N	0.00841	-1.15	0.20307	N	0.999911	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.77164	-0.2688	10	0.05721	T	0.95	-0.053	12.159	0.54093	0.6196:0.0:0.3804:0.0	.	1060;1050	Q59HF8;P31327	.;CPSM_HUMAN	S	1056;1058;1050;599	ENSP00000402608:G1056S;ENSP00000233072:G1050S;ENSP00000406136:G599S	ENSP00000233072:G1050S	G	+	1	0	CPS1	211220838	0.322000	0.24634	0.399000	0.26333	0.723000	0.41478	1.234000	0.32660	-0.240000	0.09696	0.655000	0.94253	GGT	CPS1	-	pfam_CarbamoylP_synth_lsu_N,superfamily_PreATP-grasp_fold,tigrfam_CarbamoylP_synth_lsu	ENSG00000021826		0.418	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPS1	HGNC	protein_coding	OTTHUMT00000256569.5	61	0.00	0	G			211512593	211512593	+1	no_errors	ENST00000430249	ensembl	human	known	69_37n	missense	55	20.29	14	SNP	0.629	A
CPSF1	29894	genome.wustl.edu	37	8	145621872	145621872	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:145621872C>T	ENST00000349769.3	-	25	2861	c.2767G>A	c.(2767-2769)Ggg>Agg	p.G923R	CPSF1_ENST00000531727.1_5'Flank|MIR939_ENST00000401314.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	923					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CCCCGGGCCCCAGCCCCCTCC	0.607																																					NSCLC(133;1088 1848 27708 34777 35269)	dbGAP											0													56.0	73.0	67.0					8																	145621872		2203	4299	6502	-	-	-	SO:0001583	missense	0			U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"""cleavage and polyadenylation specific factor 1, 160kD subunit"""			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.2767G>A	8.37:g.145621872C>T	ENSP00000339353:p.Gly923Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96AF0	Missense_Mutation	SNP	pfam_Cleavage/polyA-sp_fac_asu_C	p.G923R	ENST00000349769.3	37	c.2767	CCDS34966.1	8	.	.	.	.	.	.	.	.	.	.	c	5.853	0.341602	0.11069	.	.	ENSG00000071894	ENST00000349769	T	0.44083	0.93	5.41	3.59	0.41128	.	0.240071	0.40728	N	0.001032	T	0.32734	0.0839	L	0.53249	1.67	0.20196	N	0.99992	B	0.14438	0.01	B	0.10450	0.005	T	0.24368	-1.0162	10	0.15952	T	0.53	-7.2773	7.3043	0.26438	0.0:0.7383:0.1706:0.0911	.	923	Q10570	CPSF1_HUMAN	R	923	ENSP00000339353:G923R	ENSP00000339353:G923R	G	-	1	0	CPSF1	145592680	0.003000	0.15002	0.002000	0.10522	0.322000	0.28314	1.927000	0.40094	0.655000	0.30866	0.479000	0.44913	GGG	CPSF1	-	NULL	ENSG00000071894		0.607	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF1	HGNC	protein_coding	OTTHUMT00000382422.2	43	0.00	0	C	NM_013291		145621872	145621872	-1	no_errors	ENST00000349769	ensembl	human	known	69_37n	missense	44	59.26	64	SNP	0.076	T
CPT1A	1374	genome.wustl.edu	37	11	68542877	68542877	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:68542877G>C	ENST00000265641.5	-	13	1636	c.1482C>G	c.(1480-1482)ctC>ctG	p.L494L	CPT1A_ENST00000376618.2_Silent_p.L494L|CPT1A_ENST00000540367.1_Silent_p.L494L|CPT1A_ENST00000539743.1_Silent_p.L494L|CPT1A_ENST00000537756.2_5'Flank	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	494					carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	AGCCCAGCTGGAGGCTGTCAA	0.478																																						dbGAP											0													127.0	113.0	118.0					11																	68542877		2200	4294	6494	-	-	-	SO:0001819	synonymous_variant	0			L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.1482C>G	11.37:g.68542877G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TCU0|Q9BWK0	Silent	SNP	pfam_Carn_acyl_trans	p.L494	ENST00000265641.5	37	c.1482	CCDS8185.1	11																																																																																			CPT1A	-	pfam_Carn_acyl_trans	ENSG00000110090		0.478	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CPT1A	HGNC	protein_coding	OTTHUMT00000397457.2	58	0.00	0	G	NM_001876		68542877	68542877	-1	no_errors	ENST00000265641	ensembl	human	known	69_37n	silent	107	14.40	18	SNP	0.010	C
CPT1C	126129	genome.wustl.edu	37	19	50195590	50195590	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:50195590G>A	ENST00000392518.4	+	3	453	c.81G>A	c.(79-81)gtG>gtA	p.V27V	CTB-33G10.6_ENST00000596472.1_RNA|CPT1C_ENST00000598293.1_Silent_p.V27V|CPT1C_ENST00000405931.2_Silent_p.V27V|CPT1C_ENST00000354199.5_Silent_p.V27V|CPT1C_ENST00000323446.5_Silent_p.V27V|CPT1C_ENST00000598714.1_3'UTR	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	27					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		GTGCCCCTGTGCTGCAGGAGA	0.632																																						dbGAP											0													76.0	58.0	64.0					19																	50195590		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.81G>A	19.37:g.50195590G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Silent	SNP	pfam_Carn_acyl_trans	p.V27	ENST00000392518.4	37	c.81	CCDS12779.1	19																																																																																			CPT1C	-	NULL	ENSG00000169169		0.632	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CPT1C	HGNC	protein_coding	OTTHUMT00000465873.1	21	0.00	0	G	NM_152359		50195590	50195590	+1	no_errors	ENST00000323446	ensembl	human	known	69_37n	silent	11	68.57	24	SNP	0.022	A
CPT1C	126129	genome.wustl.edu	37	19	50210805	50210805	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:50210805C>G	ENST00000392518.4	+	13	1746	c.1374C>G	c.(1372-1374)gtC>gtG	p.V458V	CPT1C_ENST00000598293.1_Silent_p.V458V|CPT1C_ENST00000405931.2_Silent_p.V447V|CPT1C_ENST00000354199.5_Silent_p.V458V|CPT1C_ENST00000323446.5_Silent_p.V458V	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	458					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		CCCTAATCGTCTTCTCTAACG	0.602																																						dbGAP											0													103.0	91.0	95.0					19																	50210805		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.1374C>G	19.37:g.50210805C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Silent	SNP	pfam_Carn_acyl_trans	p.V458	ENST00000392518.4	37	c.1374	CCDS12779.1	19																																																																																			CPT1C	-	pfam_Carn_acyl_trans	ENSG00000169169		0.602	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CPT1C	HGNC	protein_coding	OTTHUMT00000465873.1	78	0.00	0	C	NM_152359		50210805	50210805	+1	no_errors	ENST00000323446	ensembl	human	known	69_37n	silent	54	32.50	26	SNP	0.998	G
CPXCR1	53336	genome.wustl.edu	37	X	88008976	88008976	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:88008976C>T	ENST00000276127.4	+	3	820	c.561C>T	c.(559-561)ttC>ttT	p.F187F	CPXCR1_ENST00000373111.1_Silent_p.F187F	NM_033048.5	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	187							metal ion binding (GO:0046872)	p.F187F(1)		NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						CAAATAGTTTCACCCATCACG	0.423																																						dbGAP											1	Substitution - coding silent(1)	NS(1)											67.0	53.0	58.0					X																	88008976		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL031116	CCDS14458.1	Xq21.3	2009-08-06			ENSG00000147183	ENSG00000147183			2332	protein-coding gene	gene with protein product	"""cancer/testis antigen 77"""					11499681	Standard	NM_033048		Approved	CT77	uc004efc.4	Q8N123	OTTHUMG00000021950	ENST00000276127.4:c.561C>T	X.37:g.88008976C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9F9|D3DTE7|Q96RS3	Silent	SNP	pfscan_Znf_C2H2	p.F187	ENST00000276127.4	37	c.561	CCDS14458.1	X																																																																																			CPXCR1	-	NULL	ENSG00000147183		0.423	CPXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPXCR1	HGNC	protein_coding	OTTHUMT00000057418.1	32	0.00	0	C	NM_033048		88008976	88008976	+1	no_errors	ENST00000276127	ensembl	human	known	69_37n	silent	27	25.00	9	SNP	0.000	T
CR1	1378	genome.wustl.edu	37	1	207684913	207684913	+	Splice_Site	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:207684913G>C	ENST00000367049.4	+	4	401		c.e4-1		CR1_ENST00000367051.1_Splice_Site|CR1_ENST00000367053.1_Splice_Site|CR1_ENST00000400960.2_Splice_Site|CR1_ENST00000367052.1_Splice_Site|CR1_ENST00000367050.4_Splice_Site	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)						complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TTTGCCTCTAGATACCGACTC	0.383																																						dbGAP											0													199.0	184.0	189.0					1																	207684913		1936	4154	6090	-	-	-	SO:0001630	splice_region_variant	0			Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.402-1G>C	1.37:g.207684913G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Splice_Site	SNP	-	e4-1	ENST00000367049.4	37	c.402-1	CCDS44308.1	1	.	.	.	.	.	.	.	.	.	.	G	8.654	0.899019	0.17686	.	.	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000534202;ENST00000367049;ENST00000529814	.	.	.	3.21	3.21	0.36854	.	.	.	.	.	.	.	.	.	.	.	0.52099	D	0.999947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.0541	0.42235	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CR1	205751536	0.942000	0.31987	0.056000	0.19401	0.064000	0.16182	3.666000	0.54540	1.781000	0.52344	0.305000	0.20034	.	CR1	-	-	ENSG00000203710		0.383	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	CR1	HGNC	protein_coding	OTTHUMT00000382527.1	258	0.00	0	G	NM_000573	Intron	207684913	207684913	+1	no_errors	ENST00000367049	ensembl	human	known	69_37n	splice_site	217	19.03	51	SNP	0.145	C
CR1	1378	genome.wustl.edu	37	1	207741168	207741168	+	Splice_Site	SNP	G	G	C	rs41274760		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:207741168G>C	ENST00000367049.4	+	25	3952		c.e25-1		CR1_ENST00000367051.1_Splice_Site|CR1_ENST00000367053.1_Splice_Site|CR1_ENST00000400960.2_Splice_Site|CR1_ENST00000367052.1_Intron|RP11-78B10.2_ENST00000596003.1_RNA|RP11-78B10.2_ENST00000597497.1_RNA	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)						complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						ATGTTTTCTAGAAATCTTTTG	0.393																																						dbGAP											0													102.0	110.0	108.0					1																	207741168		1784	4087	5871	-	-	-	SO:0001630	splice_region_variant	0			Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.3953-1G>C	1.37:g.207741168G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Splice_Site	SNP	-	e25-1	ENST00000367049.4	37	c.3953-1	CCDS44308.1	1	.	.	.	.	.	.	.	.	.	.	G	9.869	1.198349	0.22037	.	.	ENSG00000203710	ENST00000367051;ENST00000367053;ENST00000400960;ENST00000367049	.	.	.	2.73	2.73	0.32206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.1286	0.36830	0.0:0.0:1.0:0.0	rs41274760	.	.	.	.	-1	.	.	.	+	.	.	CR1	205807791	1.000000	0.71417	0.799000	0.32177	0.025000	0.11179	3.618000	0.54188	1.867000	0.54127	0.491000	0.48974	.	CR1	-	-	ENSG00000203710		0.393	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	CR1	HGNC	protein_coding	OTTHUMT00000382527.1	184	0.00	0	G	NM_000573	Intron	207741168	207741168	+1	no_errors	ENST00000367049	ensembl	human	known	69_37n	splice_site	188	16.07	36	SNP	0.842	C
CRAMP1L	57585	genome.wustl.edu	37	16	1702563	1702563	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:1702563G>C	ENST00000397412.3	+	7	993	c.894G>C	c.(892-894)aaG>aaC	p.K298N	CRAMP1L_ENST00000293925.5_Missense_Mutation_p.K298N|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.K295N			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	298						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						GGGCCCTGAAGAAGCTGTGCG	0.597																																						dbGAP											0													22.0	24.0	23.0					16																	1702563		1879	3981	5860	-	-	-	SO:0001583	missense	0			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.894G>C	16.37:g.1702563G>C	ENSP00000380559:p.Lys298Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_SANT/Myb	p.K298N	ENST00000397412.3	37	c.894	CCDS10440.2	16	.	.	.	.	.	.	.	.	.	.	g	21.6	4.175704	0.78564	.	.	ENSG00000007545	ENST00000397412;ENST00000293925;ENST00000436138	.	.	.	5.29	5.29	0.74685	.	0.062420	0.64402	D	0.000008	T	0.70124	0.3188	L	0.54323	1.7	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.72459	-0.4287	9	0.87932	D	0	-31.4231	12.3045	0.54893	0.0774:0.0:0.9226:0.0	.	298	Q96RY5	CRML_HUMAN	N	298;298;295	.	ENSP00000293925:K298N	K	+	3	2	CRAMP1L	1642564	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.589000	0.67523	2.486000	0.83907	0.651000	0.88453	AAG	CRAMP1L	-	NULL	ENSG00000007545		0.597	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRAMP1L	HGNC	protein_coding	OTTHUMT00000157297.4	32	0.00	0	G			1702563	1702563	+1	no_errors	ENST00000293925	ensembl	human	known	69_37n	missense	78	11.36	10	SNP	1.000	C
CRAMP1L	57585	genome.wustl.edu	37	16	1703056	1703056	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:1703056G>C	ENST00000397412.3	+	8	1035	c.936G>C	c.(934-936)caG>caC	p.Q312H	CRAMP1L_ENST00000293925.5_Missense_Mutation_p.Q312H|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000262317.4_5'Flank|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.Q309H			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	312						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						AAGAGGACCAGAAGCCAGTGC	0.557																																						dbGAP											0													28.0	33.0	31.0					16																	1703056		1942	4123	6065	-	-	-	SO:0001583	missense	0			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.936G>C	16.37:g.1703056G>C	ENSP00000380559:p.Gln312His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_SANT/Myb	p.Q312H	ENST00000397412.3	37	c.936	CCDS10440.2	16	.	.	.	.	.	.	.	.	.	.	g	12.47	1.947653	0.34377	.	.	ENSG00000007545	ENST00000397412;ENST00000293925;ENST00000436138	.	.	.	5.14	4.18	0.49190	.	0.064020	0.64402	D	0.000005	T	0.53206	0.1782	L	0.54323	1.7	0.80722	D	1	B	0.33857	0.429	B	0.35240	0.198	T	0.57631	-0.7778	9	0.66056	D	0.02	-28.1566	11.7625	0.51912	0.1477:0.0:0.8523:0.0	.	312	Q96RY5	CRML_HUMAN	H	312;312;309	.	ENSP00000293925:Q312H	Q	+	3	2	CRAMP1L	1643057	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.469000	0.66749	1.299000	0.44798	0.651000	0.88453	CAG	CRAMP1L	-	NULL	ENSG00000007545		0.557	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRAMP1L	HGNC	protein_coding	OTTHUMT00000157297.4	38	0.00	0	G			1703056	1703056	+1	no_errors	ENST00000293925	ensembl	human	known	69_37n	missense	39	14.58	7	SNP	1.000	C
CRAMP1L	57585	genome.wustl.edu	37	16	1723944	1723944	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:1723944C>T	ENST00000397412.3	+	21	3807	c.3708C>T	c.(3706-3708)ttC>ttT	p.F1236F	CRAMP1L_ENST00000293925.5_Silent_p.F1236F|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000262317.4_Silent_p.F611F|CRAMP1L_ENST00000436138.3_Silent_p.F1233F			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	1236	Ser-rich.					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						TTTCTCGGTTCAATGACCTGG	0.557																																						dbGAP											0													110.0	111.0	110.0					16																	1723944		2085	4234	6319	-	-	-	SO:0001819	synonymous_variant	0			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.3708C>T	16.37:g.1723944C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Silent	SNP	superfamily_Homeodomain-like,smart_SANT/Myb	p.F1236	ENST00000397412.3	37	c.3708	CCDS10440.2	16																																																																																			CRAMP1L	-	NULL	ENSG00000007545		0.557	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRAMP1L	HGNC	protein_coding	OTTHUMT00000157297.4	70	0.00	0	C			1723944	1723944	+1	no_errors	ENST00000293925	ensembl	human	known	69_37n	silent	77	35.29	42	SNP	1.000	T
CRAT	1384	genome.wustl.edu	37	9	131857735	131857735	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:131857735C>T	ENST00000318080.2	-	14	2116	c.1822G>A	c.(1822-1824)Gag>Aag	p.E608K	RP11-247A12.1_ENST00000434250.1_RNA	NM_000755.3|NM_001257363.1	NP_000746|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	608					carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-acetyltransferase activity (GO:0004092)|receptor binding (GO:0005102)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	AGCGCCTTCTCCAGGTAATGC	0.652																																						dbGAP											0													48.0	52.0	51.0					9																	131857735		2203	4300	6503	-	-	-	SO:0001583	missense	0			X78706	CCDS6919.1	9q34.1	2010-04-27	2010-04-27		ENSG00000095321	ENSG00000095321	2.3.1.7		2342	protein-coding gene	gene with protein product		600184	"""carnitine acetyltransferase"""			7829107	Standard	NM_000755		Approved	CAT1	uc004bxh.3	P43155	OTTHUMG00000147343	ENST00000318080.2:c.1822G>A	9.37:g.131857735C>T	ENSP00000315013:p.Glu608Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T952|Q9BW16	Missense_Mutation	SNP	pfam_Carn_acyl_trans	p.E608K	ENST00000318080.2	37	c.1822	CCDS6919.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.30|16.30	3.083567|3.083567	0.55861|0.55861	.|.	.|.	ENSG00000095321|ENSG00000095321	ENST00000351352;ENST00000318080|ENST00000455396	D|.	0.89681|.	-2.55|.	4.61|4.61	3.71|3.71	0.42584|0.42584	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.60856|0.60856	0.2301|0.2301	L|L	0.52823|0.52823	1.66|1.66	0.80722|0.80722	D|D	1|1	B|.	0.30439|.	0.279|.	B|.	0.32583|.	0.148|.	T|T	0.58222|0.58222	-0.7674|-0.7674	10|5	0.27082|.	T|.	0.32|.	-50.6654|-50.6654	11.6107|11.6107	0.51057|0.51057	0.0:0.914:0.0:0.086|0.0:0.914:0.0:0.086	.|.	608|.	P43155|.	CACP_HUMAN|.	K|E	527;608|182	ENSP00000315013:E608K|.	ENSP00000315013:E608K|.	E|G	-|-	1|2	0|0	CRAT|CRAT	130897556|130897556	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.842000|0.842000	0.47809|0.47809	5.829000|5.829000	0.69316|0.69316	1.151000|1.151000	0.42436|0.42436	0.603000|0.603000	0.83216|0.83216	GAG|GGA	CRAT	-	pfam_Carn_acyl_trans	ENSG00000095321		0.652	CRAT-006	KNOWN	basic|appris_principal|CCDS	protein_coding	CRAT	HGNC	protein_coding	OTTHUMT00000253700.1	33	0.00	0	C			131857735	131857735	-1	no_errors	ENST00000318080	ensembl	human	known	69_37n	missense	41	12.77	6	SNP	1.000	T
CRMP1	1400	genome.wustl.edu	37	4	5862760	5862760	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:5862760C>T	ENST00000397890.2	-	3	520	c.306G>A	c.(304-306)acG>acA	p.T102T	CRMP1_ENST00000512574.1_Silent_p.T100T|CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000324989.7_Silent_p.T216T	NM_001313.3	NP_001304.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	102					axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.T216T(1)		NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		CACTGATCATCGTGGTCCCGC	0.577																																						dbGAP											1	Substitution - coding silent(1)	cervix(1)											85.0	77.0	80.0					4																	5862760		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832			2365	protein-coding gene	gene with protein product		602462				8973361	Standard	XM_005247940		Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000397890.2:c.306G>A	4.37:g.5862760C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A0EJG6|Q13024|Q4W5F1|Q96TC8	Silent	SNP	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.T216	ENST00000397890.2	37	c.648	CCDS43207.1	4																																																																																			CRMP1	-	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	ENSG00000072832		0.577	CRMP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CRMP1	HGNC	protein_coding	OTTHUMT00000358871.1	74	0.00	0	C	NM_001313		5862760	5862760	-1	no_errors	ENST00000324989	ensembl	human	known	69_37n	silent	41	26.79	15	SNP	0.993	T
CROCC	9696	genome.wustl.edu	37	1	17285117	17285117	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:17285117G>A	ENST00000375541.5	+	26	3973	c.3904G>A	c.(3904-3906)Gag>Aag	p.E1302K		NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		ACTGGGCCGGGAGCTGGCGGA	0.672																																						dbGAP											0													19.0	15.0	16.0					1																	17285117		2149	4210	6359	-	-	-	SO:0001583	missense	0			AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.3904G>A	1.37:g.17285117G>A	ENSP00000364691:p.Glu1302Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_t-SNARE	p.E1302K	ENST00000375541.5	37	c.3904	CCDS30616.1	1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.156451	0.78114	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.60040	0.22	4.48	4.48	0.54585	.	.	.	.	.	T	0.68513	0.3009	M	0.81802	2.56	0.46376	D	0.99901	P;P	0.50156	0.827;0.932	P;P	0.50970	0.52;0.655	T	0.71009	-0.4716	9	0.37606	T	0.19	.	15.4401	0.75176	0.0:0.0:1.0:0.0	.	605;1302	Q5TZA2-2;Q5TZA2	.;CROCC_HUMAN	K	1302;1183	ENSP00000364691:E1302K	ENSP00000364691:E1302K	E	+	1	0	CROCC	17157704	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.239000	0.65371	2.405000	0.81733	0.555000	0.69702	GAG	CROCC	-	NULL	ENSG00000058453		0.672	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CROCC	HGNC	protein_coding	OTTHUMT00000006249.2	12	0.00	0	G	NM_014675		17285117	17285117	+1	no_errors	ENST00000375541	ensembl	human	known	69_37n	missense	8	42.86	6	SNP	1.000	A
CRP	1401	genome.wustl.edu	37	1	159683805	159683805	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:159683805G>C	ENST00000255030.5	-	2	288	c.185C>G	c.(184-186)tCc>tGc	p.S62C	CRP_ENST00000343919.2_Missense_Mutation_p.S62C|CRP_ENST00000368110.1_Missense_Mutation_p.S62C|CRP_ENST00000437342.1_Intron|CRP_ENST00000368112.1_Missense_Mutation_p.S62C|CRP_ENST00000368111.1_Missense_Mutation_p.S62C|CRP_ENST00000473196.1_5'Flank	NM_000567.2	NP_000558.2	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related	62	Pentaxin.				acute-phase response (GO:0006953)|aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|complement activation, classical pathway (GO:0006958)|defense response to Gram-positive bacterium (GO:0050830)|inflammatory response (GO:0006954)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|opsonization (GO:0008228)|positive regulation of dendrite development (GO:1900006)|protein polymerization (GO:0051258)|regulation of interleukin-8 secretion (GO:2000482)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lead ion (GO:0010288)|wound healing (GO:0042060)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|growth cone (GO:0030426)	calcium ion binding (GO:0005509)|cholesterol binding (GO:0015485)|choline binding (GO:0033265)|complement component C1q binding (GO:0001849)|low-density lipoprotein particle binding (GO:0030169)			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				inhaled insulin(DB05278)	ACGGGTCGAGGACAGTTCCGT	0.448																																						dbGAP											0													119.0	119.0	119.0					1																	159683805		2203	4300	6503	-	-	-	SO:0001583	missense	0			M11725	CCDS30911.1	1q23.2	2013-05-13			ENSG00000132693	ENSG00000132693			2367	protein-coding gene	gene with protein product	"""pentraxin 1"""	123260				3840479, 6857266	Standard	NM_000567		Approved	PTX1	uc001ftw.3	P02741	OTTHUMG00000035344	ENST00000255030.5:c.185C>G	1.37:g.159683805G>C	ENSP00000255030:p.Ser62Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K078|D3DVD9|D3DVE0|Q08AK3|Q8WW75	Missense_Mutation	SNP	pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,prints_Pentaxin	p.S62C	ENST00000255030.5	37	c.185	CCDS30911.1	1	.	.	.	.	.	.	.	.	.	.	G	14.38	2.519495	0.44866	.	.	ENSG00000132693	ENST00000255030;ENST00000368112;ENST00000368111;ENST00000368110;ENST00000343919	T;T;T;T;T	0.09073	3.02;3.02;3.02;3.02;3.02	5.12	-1.0	0.10196	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	2.392990	0.02134	N	0.056583	T	0.07007	0.0178	M	0.83223	2.63	0.09310	N	1	P;P	0.49783	0.911;0.928	B;P	0.47673	0.42;0.554	T	0.10660	-1.0620	10	0.59425	D	0.04	1.206	2.6984	0.05141	0.1675:0.3321:0.3731:0.1273	.	62;62	P02741-2;P02741	.;CRP_HUMAN	C	62	ENSP00000255030:S62C;ENSP00000357093:S62C;ENSP00000357092:S62C;ENSP00000357091:S62C;ENSP00000340882:S62C	ENSP00000255030:S62C	S	-	2	0	CRP	157950429	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.072000	0.14617	-0.154000	0.11118	0.650000	0.86243	TCC	CRP	-	pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,prints_Pentaxin	ENSG00000132693		0.448	CRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRP	HGNC	protein_coding	OTTHUMT00000085553.1	70	0.00	0	G	NM_000567		159683805	159683805	-1	no_errors	ENST00000255030	ensembl	human	known	69_37n	missense	76	25.24	26	SNP	0.000	C
CRTAC1	55118	genome.wustl.edu	37	10	99655032	99655032	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:99655032C>G	ENST00000370597.3	-	11	1811	c.1456G>C	c.(1456-1458)Gag>Cag	p.E486Q	CRTAC1_ENST00000370591.2_Missense_Mutation_p.E486Q|CRTAC1_ENST00000298819.4_Missense_Mutation_p.E486Q	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	486						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		GGCTCCATCTCACACAGGTAG	0.617																																						dbGAP											0													84.0	72.0	76.0					10																	99655032		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.1456G>C	10.37:g.99655032C>G	ENSP00000359629:p.Glu486Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Missense_Mutation	SNP	pfam_FG-GAP,pfam_UnbV_ASPIC,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd	p.E486Q	ENST00000370597.3	37	c.1456	CCDS31266.1	10	.	.	.	.	.	.	.	.	.	.	C	8.653	0.898760	0.17686	.	.	ENSG00000095713	ENST00000413387;ENST00000370597;ENST00000298819;ENST00000309155;ENST00000370591	T;T;T;T;T	0.70869	1.72;-0.52;1.71;0.3;0.3	5.06	5.06	0.68205	ASPIC/UnbV (1);	0.000000	0.85682	D	0.000000	T	0.50086	0.1595	N	0.05467	-0.045	0.58432	D	0.999992	B;B;B	0.25312	0.012;0.123;0.015	B;B;B	0.26202	0.005;0.067;0.021	T	0.51309	-0.8722	10	0.06236	T	0.91	-24.8382	18.0162	0.89241	0.0:1.0:0.0:0.0	.	486;486;382	Q9NQ79-2;Q9NQ79;Q5T4F6	.;CRAC1_HUMAN;.	Q	382;486;486;478;486	ENSP00000408445:E382Q;ENSP00000359629:E486Q;ENSP00000298819:E486Q;ENSP00000310810:E478Q;ENSP00000359623:E486Q	ENSP00000298819:E486Q	E	-	1	0	CRTAC1	99645022	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	4.754000	0.62191	2.339000	0.79563	0.462000	0.41574	GAG	CRTAC1	-	pfam_UnbV_ASPIC	ENSG00000095713		0.617	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	CRTAC1	HGNC	protein_coding	OTTHUMT00000049754.1	34	0.00	0	C	NM_018058		99655032	99655032	-1	no_errors	ENST00000370597	ensembl	human	known	69_37n	missense	22	21.43	6	SNP	1.000	G
CRTAM	56253	genome.wustl.edu	37	11	122738259	122738259	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:122738259G>C	ENST00000227348.4	+	8	1007	c.960G>C	c.(958-960)aaG>aaC	p.K320N	CRTAM_ENST00000533709.1_Missense_Mutation_p.K121N	NM_019604.2	NP_062550.2			cytotoxic and regulatory T cell molecule											breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		TGATATGGAAGAAAGGTCAGT	0.463																																						dbGAP											0													81.0	72.0	75.0					11																	122738259		2202	4299	6501	-	-	-	SO:0001583	missense	0			AF001622	CCDS8437.1	11q24.1	2013-01-11			ENSG00000109943	ENSG00000109943		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	24313	protein-coding gene	gene with protein product	"""class I MHC restricted T cell associated molecule"""	612597				10811014, 16300832	Standard	NM_019604		Approved	CD355	uc001pyj.3	O95727	OTTHUMG00000166026	ENST00000227348.4:c.960G>C	11.37:g.122738259G>C	ENSP00000227348:p.Lys320Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like	p.K320N	ENST00000227348.4	37	c.960	CCDS8437.1	11	.	.	.	.	.	.	.	.	.	.	G	13.98	2.400336	0.42613	.	.	ENSG00000109943	ENST00000227348;ENST00000533709	T;T	0.77098	-1.07;0.07	5.62	-6.02	0.02192	.	0.000000	0.85682	D	0.000000	D	0.84660	0.5521	M	0.72894	2.215	0.51482	D	0.999924	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.85194	0.1011	10	0.87932	D	0	.	18.2859	0.90114	0.2031:0.0:0.7969:0.0	.	121;320	O95727-2;O95727	.;CRTAM_HUMAN	N	320;121	ENSP00000227348:K320N;ENSP00000433728:K121N	ENSP00000227348:K320N	K	+	3	2	CRTAM	122243469	0.132000	0.22450	0.446000	0.26920	0.131000	0.20780	-1.076000	0.03420	-1.083000	0.03097	-0.238000	0.12139	AAG	CRTAM	-	NULL	ENSG00000109943		0.463	CRTAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRTAM	HGNC	protein_coding	OTTHUMT00000387507.1	108	0.00	0	G	NM_019604		122738259	122738259	+1	no_errors	ENST00000227348	ensembl	human	known	69_37n	missense	58	49.12	56	SNP	0.881	C
CRYGB	1419	genome.wustl.edu	37	2	209010698	209010698	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:209010698C>T	ENST00000260988.4	-	2	99	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K		NM_005210.3	NP_005201.2	P07316	CRGB_HUMAN	crystallin, gamma B	18	Beta/gamma crystallin 'Greek key' 1. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens fiber cell morphogenesis (GO:0070309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)	14				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)		GTGGTGCATTCGTAGCTGCGG	0.567																																						dbGAP											0													86.0	81.0	82.0					2																	209010698		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2380.1	2q34	2013-02-14			ENSG00000182187	ENSG00000182187			2409	protein-coding gene	gene with protein product		123670	"""crystallin, gamma 1-2"""	CRYG2			Standard	NM_005210		Approved		uc002vcp.4	P07316	OTTHUMG00000132941	ENST00000260988.4:c.52G>A	2.37:g.209010698C>T	ENSP00000260988:p.Glu18Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RB5|Q53ST2	Missense_Mutation	SNP	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.E18K	ENST00000260988.4	37	c.52	CCDS2380.1	2	.	.	.	.	.	.	.	.	.	.	C	18.25	3.582037	0.65992	.	.	ENSG00000182187	ENST00000260988	T	0.80214	-1.35	4.62	3.72	0.42706	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.051495	0.85682	D	0.000000	D	0.89128	0.6627	H	0.98068	4.14	0.58432	D	0.999994	P	0.48589	0.912	P	0.46543	0.52	D	0.92040	0.5640	10	0.87932	D	0	.	12.6306	0.56655	0.0:0.8319:0.1681:0.0	.	18	P07316	CRGB_HUMAN	K	18	ENSP00000260988:E18K	ENSP00000260988:E18K	E	-	1	0	CRYGB	208718943	1.000000	0.71417	0.994000	0.49952	0.713000	0.41058	4.753000	0.62183	1.256000	0.44068	0.561000	0.74099	GAA	CRYGB	-	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin	ENSG00000182187		0.567	CRYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRYGB	HGNC	protein_coding	OTTHUMT00000256473.2	83	0.00	0	C	NM_005210		209010698	209010698	-1	no_errors	ENST00000260988	ensembl	human	known	69_37n	missense	53	36.14	30	SNP	1.000	T
CRYZ	1429	genome.wustl.edu	37	1	75184934	75184934	+	Silent	SNP	G	G	A	rs542527429		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:75184934G>A	ENST00000340866.5	-	4	474	c.387C>T	c.(385-387)atC>atT	p.I129I	CRYZ_ENST00000370872.3_Intron|CRYZ_ENST00000370871.3_Silent_p.I129I|CRYZ_ENST00000417775.1_Silent_p.I129I	NM_001889.3	NP_001880.2	Q08257	QOR_HUMAN	crystallin, zeta (quinone reductase)	129					protein homotetramerization (GO:0051289)|visual perception (GO:0007601)|xenobiotic catabolic process (GO:0042178)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)	mRNA 3'-UTR binding (GO:0003730)|NADPH binding (GO:0070402)|NADPH:quinone reductase activity (GO:0003960)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)	10					Dicoumarol(DB00266)	ATGGAATGCCGATGGCAGCTC	0.443													g|||	1	0.000199681	0.0	0.0	5008	,	,		17848	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													152.0	142.0	145.0					1																	75184934		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS665.1, CCDS44162.1, CCDS44163.1	1p31.1	2013-02-14			ENSG00000116791	ENSG00000116791			2419	protein-coding gene	gene with protein product		123691					Standard	NM_001889		Approved		uc001dgj.3	Q08257	OTTHUMG00000009620	ENST00000340866.5:c.387C>T	1.37:g.75184934G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NN60|D3DQ76|Q53FT0|Q59EU7|Q5HYE7|Q6NSK9	Silent	SNP	pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER	p.I129	ENST00000340866.5	37	c.387	CCDS665.1	1																																																																																			CRYZ	-	superfamily_GroES-like,smart_PKS_ER	ENSG00000116791		0.443	CRYZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRYZ	HGNC	protein_coding	OTTHUMT00000026514.1	134	0.00	0	G			75184934	75184934	-1	no_errors	ENST00000340866	ensembl	human	known	69_37n	silent	97	27.61	37	SNP	0.145	A
CS	1431	genome.wustl.edu	37	12	56679748	56679748	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:56679748G>A	ENST00000351328.3	-	3	343	c.153C>T	c.(151-153)ttC>ttT	p.F51F	RP11-977G19.10_ENST00000549318.1_Silent_p.F247F|CS_ENST00000542324.2_Silent_p.F38F|CS_ENST00000548567.1_5'UTR	NM_004077.2	NP_004068.2	O75390	CISY_HUMAN	citrate synthase	51					carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	citrate (Si)-synthase activity (GO:0004108)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	17		Myeloproliferative disorder(1001;0.000374)		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)		GTTGCTGCCTGAAAGTCTTAA	0.438																																						dbGAP											0													248.0	221.0	230.0					12																	56679748		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS8913.1	12q13.2	2012-10-02				ENSG00000062485	2.3.3.1		2422	protein-coding gene	gene with protein product		118950					Standard	NM_004077		Approved		uc001sks.1	O75390	OTTHUMG00000170344	ENST00000351328.3:c.153C>T	12.37:g.56679748G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q71UT9|Q7KZH0|Q96FZ8|Q9BWN8	Silent	SNP	pfam_Citrate_synthase-like,superfamily_Citrate_synthase-like_core,prints_Citrate_synthase-like,tigrfam_Citrate_synthase_euk	p.F51	ENST00000351328.3	37	c.153	CCDS8913.1	12																																																																																			CS	-	superfamily_Citrate_synthase-like_core,tigrfam_Citrate_synthase_euk	ENSG00000062485		0.438	CS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CS	HGNC	protein_coding	OTTHUMT00000408588.2	173	0.00	0	G	NM_004077		56679748	56679748	-1	no_errors	ENST00000351328	ensembl	human	known	69_37n	silent	159	14.97	28	SNP	1.000	A
CSF1R	1436	genome.wustl.edu	37	5	149449523	149449523	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:149449523C>G	ENST00000286301.3	-	10	1714	c.1423G>C	c.(1423-1425)Gag>Cag	p.E475Q	CSF1R_ENST00000515239.1_5'Flank	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	475	Ig-like C2-type 5.				cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	TCTAAGGTCTCAACAGTCAGC	0.602																																						dbGAP											0													122.0	115.0	117.0					5																	149449523		2203	4300	6503	-	-	-	SO:0001583	missense	0			U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2433	protein-coding gene	gene with protein product		164770	"""McDonough feline sarcoma viral (v-fms) oncogene homolog"""	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.1423G>C	5.37:g.149449523C>G	ENSP00000286301:p.Glu475Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Missense_Mutation	SNP	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E475Q	ENST00000286301.3	37	c.1423	CCDS4302.1	5	.	.	.	.	.	.	.	.	.	.	C	0.115	-1.132664	0.01756	.	.	ENSG00000182578	ENST00000286301;ENST00000394307	T	0.03386	3.95	5.66	2.74	0.32292	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.837839	0.10415	N	0.677481	T	0.02193	0.0068	N	0.11560	0.145	0.09310	N	1	B;B	0.14805	0.002;0.011	B;B	0.18263	0.017;0.021	T	0.49351	-0.8949	10	0.14656	T	0.56	.	6.853	0.24024	0.0:0.6629:0.1593:0.1778	.	327;475	B4E2Y8;P07333	.;CSF1R_HUMAN	Q	475;327	ENSP00000286301:E475Q	ENSP00000286301:E475Q	E	-	1	0	CSF1R	149429716	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.024000	0.12435	0.764000	0.33197	0.455000	0.32223	GAG	CSF1R	-	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000182578		0.602	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF1R	HGNC	protein_coding	OTTHUMT00000252329.2	59	0.00	0	C	NM_005211		149449523	149449523	-1	no_errors	ENST00000286301	ensembl	human	known	69_37n	missense	60	23.08	18	SNP	0.000	G
CSMD2	114784	genome.wustl.edu	37	1	34123697	34123697	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:34123697C>G	ENST00000373380.1	-	6	1135	c.915G>C	c.(913-915)caG>caC	p.Q305H	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373381.4_Missense_Mutation_p.Q1432H			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1392	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GACTCCCATTCTGCGGGATCC	0.597																																						dbGAP											0													95.0	90.0	92.0					1																	34123697		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.915G>C	1.37:g.34123697C>G	ENSP00000362478:p.Gln305His	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	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.Q1432H	ENST00000373380.1	37	c.4296		1	.	.	.	.	.	.	.	.	.	.	c	17.03	3.285280	0.59867	.	.	ENSG00000121904	ENST00000373381;ENST00000373380	T;T	0.65364	-0.15;-0.15	5.94	4.85	0.62838	Complement control module (2);Sushi/SCR/CCP (3);	0.133124	0.51477	D	0.000094	T	0.72203	0.3431	M	0.64260	1.97	0.80722	D	1	D;D;P	0.58970	0.96;0.984;0.952	P;P;P	0.62649	0.844;0.903;0.905	T	0.71310	-0.4631	10	0.46703	T	0.11	.	11.4487	0.50138	0.0:0.8494:0.0:0.1506	.	305;1392;1432	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	H	1432;305	ENSP00000362479:Q1432H;ENSP00000362478:Q305H	ENSP00000241312:Q1392H	Q	-	3	2	CSMD2	33896284	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	1.023000	0.30065	2.813000	0.96785	0.558000	0.71614	CAG	CSMD2	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000121904		0.597	CSMD2-002	KNOWN	basic	protein_coding	CSMD2	HGNC	protein_coding	OTTHUMT00000030635.4	33	0.00	0	C	NM_052896		34123697	34123697	-1	no_errors	ENST00000373381	ensembl	human	known	69_37n	missense	42	20.75	11	SNP	1.000	G
CSMD2	114784	genome.wustl.edu	37	1	34174866	34174866	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:34174866G>C	ENST00000373380.1	-	1	238	c.18C>G	c.(16-18)ctC>ctG	p.L6L	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373381.4_Intron			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	747						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CAGCTGGAAAGAGAATCACAA	0.448																																						dbGAP											0													58.0	54.0	55.0					1																	34174866		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.18C>G	1.37:g.34174866G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	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.L6	ENST00000373380.1	37	c.18		1																																																																																			CSMD2	-	NULL	ENSG00000121904		0.448	CSMD2-002	KNOWN	basic	protein_coding	CSMD2	HGNC	protein_coding	OTTHUMT00000030635.4	58	0.00	0	G	NM_052896		34174866	34174866	-1	no_errors	ENST00000373380	ensembl	human	known	69_37n	silent	35	20.45	9	SNP	0.987	C
CSMD2	114784	genome.wustl.edu	37	1	34209028	34209028	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:34209028C>G	ENST00000373381.4	-	14	2202	c.2026G>C	c.(2026-2028)Gat>Cat	p.D676H		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	636	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTGGCCCCATCCTTGATGACC	0.617																																						dbGAP											0													74.0	75.0	74.0					1																	34209028		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.2026G>C	1.37:g.34209028C>G	ENSP00000362479:p.Asp676His	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	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.D676H	ENST00000373381.4	37	c.2026		1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.444697	0.83993	.	.	ENSG00000121904	ENST00000373381	T	0.48201	0.82	5.69	4.78	0.61160	CUB (5);	0.000000	0.85682	D	0.000000	T	0.77844	0.4191	H	0.96333	3.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.84842	0.0808	10	0.62326	D	0.03	.	14.0844	0.64947	0.0:0.9279:0.0:0.0721	.	636;676	Q7Z408;E7EUA6	CSMD2_HUMAN;.	H	676	ENSP00000362479:D676H	ENSP00000241312:D636H	D	-	1	0	CSMD2	33981615	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.729000	0.84864	1.540000	0.49301	0.655000	0.94253	GAT	CSMD2	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB	ENSG00000121904		0.617	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	CSMD2	HGNC	protein_coding		39	0.00	0	C	NM_052896		34209028	34209028	-1	no_errors	ENST00000373381	ensembl	human	known	69_37n	missense	38	29.63	16	SNP	1.000	G
CSNK1A1	1452	genome.wustl.edu	37	5	148929690	148929690	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:148929690C>T	ENST00000377843.2	-	2	657	c.178G>A	c.(178-180)Gag>Aag	p.E60K	CSNK1A1_ENST00000515748.2_Missense_Mutation_p.E60K|CSNK1A1_ENST00000504676.1_5'UTR|CSNK1A1_ENST00000515768.1_Missense_Mutation_p.E60K|CSNK1A1_ENST00000515435.1_5'UTR|CSNK1A1_ENST00000261798.5_Missense_Mutation_p.E60K	NM_001025105.1|NM_001892.4	NP_001020276.1|NP_001883.4	P48729	KC1A_HUMAN	casein kinase 1, alpha 1	60	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell surface receptor signaling pathway (GO:0007166)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		AGCTTGCTCTCGTACAGCAAC	0.537																																					Colon(5;64 69 1309 10383)	dbGAP											0													123.0	130.0	128.0					5																	148929690		2186	4296	6482	-	-	-	SO:0001583	missense	0			AF119911	CCDS47303.1, CCDS47304.1, CCDS64291.1	5q32	2013-01-17			ENSG00000113712	ENSG00000113712			2451	protein-coding gene	gene with protein product	"""clock regulator kinase"""	600505				8050587	Standard	NM_001025105		Approved	CK1, CK1a, CK1alpha, CKIa, CKIalpha	uc003lqw.2	P48729	OTTHUMG00000163463	ENST00000377843.2:c.178G>A	5.37:g.148929690C>T	ENSP00000367074:p.Glu60Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DQG0|D3DQG1|Q4JJA0|Q5U046|Q5U047|Q6FGA2|Q71TU5|Q96HD2|Q9UDK3	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.E60K	ENST00000377843.2	37	c.178	CCDS47303.1	5	.	.	.	.	.	.	.	.	.	.	C	35	5.424687	0.96111	.	.	ENSG00000113712	ENST00000261798;ENST00000377843;ENST00000322237;ENST00000515768;ENST00000515748	D;D;D;T	0.84873	-1.91;-1.91;-1.91;1.02	5.62	5.62	0.85841	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	U	0.000000	D	0.96528	0.8867	H	0.99705	4.715	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.956	D	0.98331	1.0533	10	0.87932	D	0	.	19.6758	0.95932	0.0:1.0:0.0:0.0	.	60;60;60	Q71TU5;P48729;P48729-2	.;KC1A_HUMAN;.	K	60	ENSP00000261798:E60K;ENSP00000367074:E60K;ENSP00000421689:E60K;ENSP00000421268:E60K	ENSP00000261798:E60K	E	-	1	0	CSNK1A1	148909883	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.521000	0.81832	2.644000	0.89710	0.561000	0.74099	GAG	CSNK1A1	-	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	ENSG00000113712		0.537	CSNK1A1-201	KNOWN	basic|CCDS	protein_coding	CSNK1A1	HGNC	protein_coding		61	0.00	0	C	NM_001892		148929690	148929690	-1	no_errors	ENST00000515768	ensembl	human	known	69_37n	missense	57	20.83	15	SNP	1.000	T
CSPP1	79848	genome.wustl.edu	37	8	68007537	68007537	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:68007537C>A	ENST00000262210.5	+	6	551	c.520C>A	c.(520-522)Cag>Aag	p.Q174K	CSPP1_ENST00000412460.1_5'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	209					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			GCCCAAGAGTCAGAGAAATAA	0.313																																						dbGAP											0													47.0	45.0	46.0					8																	68007537		1789	4063	5852	-	-	-	SO:0001583	missense	0			AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.520C>A	8.37:g.68007537C>A	ENSP00000262210:p.Gln174Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	NULL	p.Q174K	ENST00000262210.5	37	c.520	CCDS43744.1	8	.	.	.	.	.	.	.	.	.	.	C	10.07	1.249443	0.22880	.	.	ENSG00000104218	ENST00000262210;ENST00000389042	T	0.27557	1.66	5.84	4.04	0.47022	.	0.946988	0.08480	U	0.939689	T	0.33556	0.0867	L	0.50333	1.59	0.80722	D	1	B;B;B	0.19706	0.028;0.038;0.038	B;B;B	0.20767	0.031;0.023;0.023	T	0.04565	-1.0942	10	0.25751	T	0.34	-2.2861	15.9292	0.79646	0.0:0.4669:0.5331:0.0	.	174;209;209	Q1MSJ5-1;Q1MSJ5;F8W7C3	.;CSPP1_HUMAN;.	K	174;209	ENSP00000262210:Q174K	ENSP00000262210:Q174K	Q	+	1	0	CSPP1	68170091	1.000000	0.71417	0.758000	0.31321	0.646000	0.38490	2.113000	0.41902	0.770000	0.33336	0.650000	0.86243	CAG	CSPP1	-	NULL	ENSG00000104218		0.313	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CSPP1	HGNC	protein_coding	OTTHUMT00000379254.1	35	0.00	0	C	NM_024790		68007537	68007537	+1	no_errors	ENST00000262210	ensembl	human	known	69_37n	missense	22	57.69	30	SNP	0.926	A
CSPP1	79848	genome.wustl.edu	37	8	68026075	68026075	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:68026075G>C	ENST00000262210.5	+	10	1281	c.1250G>C	c.(1249-1251)gGa>gCa	p.G417A	CSPP1_ENST00000412460.1_Missense_Mutation_p.G123A	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	452					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			GCAGCGTCTGGAGCACAAGAC	0.338																																						dbGAP											0													111.0	111.0	111.0					8																	68026075		1807	4066	5873	-	-	-	SO:0001583	missense	0			AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.1250G>C	8.37:g.68026075G>C	ENSP00000262210:p.Gly417Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	NULL	p.G417A	ENST00000262210.5	37	c.1250	CCDS43744.1	8	.	.	.	.	.	.	.	.	.	.	G	26.3	4.722904	0.89298	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	T;T;T	0.75154	-0.91;-0.71;-0.71	5.74	5.74	0.90152	.	0.000000	0.64402	D	0.000013	D	0.85301	0.5665	M	0.61703	1.905	0.46203	D	0.998922	D;D;D;D	0.89917	0.971;1.0;1.0;1.0	P;D;D;D	0.97110	0.78;1.0;0.999;0.999	D	0.85835	0.1394	10	0.72032	D	0.01	-30.6728	18.7065	0.91640	0.0:0.0:1.0:0.0	.	123;417;452;452	Q1MSJ5-2;Q1MSJ5-1;Q1MSJ5;F8W7C3	.;.;CSPP1_HUMAN;.	A	417;452;123;123	ENSP00000262210:G417A;ENSP00000415782:G123A;ENSP00000430092:G123A	ENSP00000262210:G417A	G	+	2	0	CSPP1	68188629	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	5.139000	0.64801	2.703000	0.92315	0.655000	0.94253	GGA	CSPP1	-	NULL	ENSG00000104218		0.338	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CSPP1	HGNC	protein_coding	OTTHUMT00000379254.1	51	0.00	0	G	NM_024790		68026075	68026075	+1	no_errors	ENST00000262210	ensembl	human	known	69_37n	missense	32	20.00	8	SNP	1.000	C
CSPP1	79848	genome.wustl.edu	37	8	68049834	68049834	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:68049834G>C	ENST00000262210.5	+	15	1987	c.1956G>C	c.(1954-1956)ctG>ctC	p.L652L	CSPP1_ENST00000412460.1_Silent_p.L358L	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	687					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AAGGAAATCTGATAAGTACGT	0.338																																						dbGAP											0													98.0	94.0	95.0					8																	68049834		1828	4080	5908	-	-	-	SO:0001819	synonymous_variant	0			AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.1956G>C	8.37:g.68049834G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6ND63|Q70F00|Q8TBC1	Silent	SNP	NULL	p.L652	ENST00000262210.5	37	c.1956	CCDS43744.1	8																																																																																			CSPP1	-	NULL	ENSG00000104218		0.338	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CSPP1	HGNC	protein_coding	OTTHUMT00000379254.1	88	0.00	0	G	NM_024790		68049834	68049834	+1	no_errors	ENST00000262210	ensembl	human	known	69_37n	silent	94	20.34	24	SNP	1.000	C
CSRP2	1466	genome.wustl.edu	37	12	77254189	77254189	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:77254189G>A	ENST00000311083.5	-	4	409	c.286C>T	c.(286-288)Cag>Tag	p.Q96*	CSRP2_ENST00000552330.1_Nonsense_Mutation_p.Q146*|CSRP2_ENST00000546966.1_Nonsense_Mutation_p.Q96*|CSRP2_ENST00000547435.1_Nonsense_Mutation_p.Q96*	NM_001321.1	NP_001312.1	Q16527	CSRP2_HUMAN	cysteine and glycine-rich protein 2	96					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)	focal adhesion (GO:0005925)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			kidney(1)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)	8						CTGTGAGGCTGAACACTTGTG	0.433																																						dbGAP											0													92.0	90.0	91.0					12																	77254189		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC000992	CCDS9015.1	12q21.1	2005-10-30				ENSG00000175183			2470	protein-coding gene	gene with protein product		601871				7499425, 9286703	Standard	XM_006719258		Approved	SmLIM, CRP2, LMO5	uc001syl.1	Q16527		ENST00000311083.5:c.286C>T	12.37:g.77254189G>A	ENSP00000310901:p.Gln96*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q93030	Nonsense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.Q96*	ENST00000311083.5	37	c.286	CCDS9015.1	12	.	.	.	.	.	.	.	.	.	.	G	27.9	4.873349	0.91664	.	.	ENSG00000175183	ENST00000311083;ENST00000552330;ENST00000546966;ENST00000547435	.	.	.	6.17	6.17	0.99709	.	0.335459	0.32987	N	0.005409	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	-8.726	15.3567	0.74431	0.0:0.1387:0.8613:0.0	.	.	.	.	X	96;146;96;96	.	ENSP00000310901:Q96X	Q	-	1	0	CSRP2	75778320	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	3.923000	0.56469	2.941000	0.99782	0.655000	0.94253	CAG	CSRP2	-	NULL	ENSG00000175183		0.433	CSRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSRP2	HGNC	protein_coding	OTTHUMT00000406572.1	116	0.00	0	G	NM_001321		77254189	77254189	-1	no_errors	ENST00000311083	ensembl	human	known	69_37n	nonsense	90	20.35	23	SNP	0.959	A
CSRP2BP	57325	genome.wustl.edu	37	20	18143130	18143130	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:18143130C>T	ENST00000435364.3	+	6	1553	c.1212C>T	c.(1210-1212)gtC>gtT	p.V404V	CSRP2BP_ENST00000489634.2_Silent_p.V276V|CSRP2BP_ENST00000377681.3_Silent_p.V403V	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	404					chromatin organization (GO:0006325)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|LIM domain binding (GO:0030274)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						GAAAGAAGGTCAGAGGCCCTG	0.522																																						dbGAP											0													59.0	62.0	61.0					20																	18143130		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF252257	CCDS13133.1	20p11.23	2012-06-06			ENSG00000149474	ENSG00000149474			15904	protein-coding gene	gene with protein product	"""cysteine rich protein 2 binding protein"", ""ATAC component 2 homolog (Drosophila)"""					9286703, 10924333, 19103755	Standard	NR_028402		Approved	CRP2BP, dJ717M23.1, PRO1194, ATAC2, KAT14	uc021wbb.1	Q9H8E8	OTTHUMG00000031962	ENST00000435364.3:c.1212C>T	20.37:g.18143130C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	Silent	SNP	pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.V404	ENST00000435364.3	37	c.1212	CCDS13133.1	20																																																																																			CSRP2BP	-	NULL	ENSG00000149474		0.522	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CSRP2BP	HGNC	protein_coding	OTTHUMT00000078152.5	80	0.00	0	C	NM_020536		18143130	18143130	+1	no_errors	ENST00000278816	ensembl	human	known	69_37n	silent	101	21.09	27	SNP	0.115	T
CSRP2BP	57325	genome.wustl.edu	37	20	18143374	18143374	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:18143374C>T	ENST00000435364.3	+	6	1797	c.1456C>T	c.(1456-1458)Ccg>Tcg	p.P486S	CSRP2BP_ENST00000489634.2_Missense_Mutation_p.P358S|CSRP2BP_ENST00000377681.3_Missense_Mutation_p.P485S	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	486					chromatin organization (GO:0006325)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|LIM domain binding (GO:0030274)	p.P486S(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						TGCCATGACTCCGGAAGCTCG	0.502																																						dbGAP											1	Substitution - Missense(1)	lung(1)											90.0	77.0	81.0					20																	18143374		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF252257	CCDS13133.1	20p11.23	2012-06-06			ENSG00000149474	ENSG00000149474			15904	protein-coding gene	gene with protein product	"""cysteine rich protein 2 binding protein"", ""ATAC component 2 homolog (Drosophila)"""					9286703, 10924333, 19103755	Standard	NR_028402		Approved	CRP2BP, dJ717M23.1, PRO1194, ATAC2, KAT14	uc021wbb.1	Q9H8E8	OTTHUMG00000031962	ENST00000435364.3:c.1456C>T	20.37:g.18143374C>T	ENSP00000392318:p.Pro486Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	Missense_Mutation	SNP	pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.P486S	ENST00000435364.3	37	c.1456	CCDS13133.1	20	.	.	.	.	.	.	.	.	.	.	C	15.70	2.910793	0.52439	.	.	ENSG00000149474	ENST00000278816;ENST00000377681;ENST00000435364;ENST00000489634	T;T;T;T	0.14766	2.48;2.49;2.48;2.49	6.17	6.17	0.99709	.	0.053176	0.85682	D	0.000000	T	0.16428	0.0395	L	0.42245	1.32	0.80722	D	1	B;B	0.33637	0.42;0.127	B;B	0.32090	0.14;0.014	T	0.01591	-1.1317	10	0.35671	T	0.21	-20.3375	20.8794	0.99867	0.0:1.0:0.0:0.0	.	358;486	Q9H8E8-2;Q9H8E8	.;CSR2B_HUMAN	S	486;485;486;358	ENSP00000278816:P486S;ENSP00000366909:P485S;ENSP00000392318:P486S;ENSP00000425909:P358S	ENSP00000278816:P486S	P	+	1	0	CSRP2BP	18091374	0.997000	0.39634	0.404000	0.26397	0.991000	0.79684	4.307000	0.59123	2.941000	0.99782	0.655000	0.94253	CCG	CSRP2BP	-	NULL	ENSG00000149474		0.502	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CSRP2BP	HGNC	protein_coding	OTTHUMT00000078152.5	49	0.00	0	C	NM_020536		18143374	18143374	+1	no_errors	ENST00000278816	ensembl	human	known	69_37n	missense	67	22.99	20	SNP	0.995	T
CSRP2BP	57325	genome.wustl.edu	37	20	18165353	18165353	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:18165353G>A	ENST00000435364.3	+	9	2433	c.2092G>A	c.(2092-2094)Gaa>Aaa	p.E698K	CSRP2BP_ENST00000489634.2_Missense_Mutation_p.E570K|CSRP2BP_ENST00000377681.3_Missense_Mutation_p.E697K	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	698	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				chromatin organization (GO:0006325)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|LIM domain binding (GO:0030274)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						GAAATACAATGAAGCTTACAT	0.398																																						dbGAP											0													227.0	190.0	203.0					20																	18165353		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF252257	CCDS13133.1	20p11.23	2012-06-06			ENSG00000149474	ENSG00000149474			15904	protein-coding gene	gene with protein product	"""cysteine rich protein 2 binding protein"", ""ATAC component 2 homolog (Drosophila)"""					9286703, 10924333, 19103755	Standard	NR_028402		Approved	CRP2BP, dJ717M23.1, PRO1194, ATAC2, KAT14	uc021wbb.1	Q9H8E8	OTTHUMG00000031962	ENST00000435364.3:c.2092G>A	20.37:g.18165353G>A	ENSP00000392318:p.Glu698Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	Missense_Mutation	SNP	pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.E698K	ENST00000435364.3	37	c.2092	CCDS13133.1	20	.	.	.	.	.	.	.	.	.	.	G	33	5.221755	0.95139	.	.	ENSG00000149474	ENST00000278816;ENST00000377681;ENST00000435364;ENST00000489634	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.99	5.05	0.67936	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.047415	0.85682	N	0.000000	T	0.58119	0.2100	L	0.45698	1.435	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.77004	0.981;0.989	T	0.61826	-0.6983	10	0.87932	D	0	-13.7931	15.1961	0.73088	0.067:0.0:0.933:0.0	.	570;698	Q9H8E8-2;Q9H8E8	.;CSR2B_HUMAN	K	698;697;698;570	ENSP00000278816:E698K;ENSP00000366909:E697K;ENSP00000392318:E698K;ENSP00000425909:E570K	ENSP00000278816:E698K	E	+	1	0	CSRP2BP	18113353	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	9.750000	0.98875	1.548000	0.49413	0.655000	0.94253	GAA	CSRP2BP	-	pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	ENSG00000149474		0.398	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CSRP2BP	HGNC	protein_coding	OTTHUMT00000078152.5	144	0.00	0	G	NM_020536		18165353	18165353	+1	no_errors	ENST00000278816	ensembl	human	known	69_37n	missense	209	18.92	49	SNP	1.000	A
CSRP2BP	57325	genome.wustl.edu	37	20	18168007	18168007	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:18168007C>G	ENST00000435364.3	+	10	2594	c.2253C>G	c.(2251-2253)ttC>ttG	p.F751L	CSRP2BP_ENST00000489634.2_Missense_Mutation_p.F623L|CSRP2BP_ENST00000377681.3_Missense_Mutation_p.F750L	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	751	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				chromatin organization (GO:0006325)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|LIM domain binding (GO:0030274)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						AGTTTGGATTCAAGACTGAAG	0.443																																						dbGAP											0													99.0	101.0	101.0					20																	18168007		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF252257	CCDS13133.1	20p11.23	2012-06-06			ENSG00000149474	ENSG00000149474			15904	protein-coding gene	gene with protein product	"""cysteine rich protein 2 binding protein"", ""ATAC component 2 homolog (Drosophila)"""					9286703, 10924333, 19103755	Standard	NR_028402		Approved	CRP2BP, dJ717M23.1, PRO1194, ATAC2, KAT14	uc021wbb.1	Q9H8E8	OTTHUMG00000031962	ENST00000435364.3:c.2253C>G	20.37:g.18168007C>G	ENSP00000392318:p.Phe751Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	Missense_Mutation	SNP	pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.F751L	ENST00000435364.3	37	c.2253	CCDS13133.1	20	.	.	.	.	.	.	.	.	.	.	C	23.8	4.457405	0.84317	.	.	ENSG00000149474	ENST00000278816;ENST00000377681;ENST00000435364;ENST00000489634	T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44	5.87	2.89	0.33648	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	D	0.000000	T	0.80486	0.4632	M	0.85777	2.775	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.80567	-0.1325	10	0.87932	D	0	-2.3275	8.2779	0.31883	0.0:0.6623:0.0:0.3377	.	623;751	Q9H8E8-2;Q9H8E8	.;CSR2B_HUMAN	L	751;750;751;623	ENSP00000278816:F751L;ENSP00000366909:F750L;ENSP00000392318:F751L;ENSP00000425909:F623L	ENSP00000278816:F751L	F	+	3	2	CSRP2BP	18116007	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.978000	0.40598	0.819000	0.34492	0.591000	0.81541	TTC	CSRP2BP	-	pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	ENSG00000149474		0.443	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CSRP2BP	HGNC	protein_coding	OTTHUMT00000078152.5	69	0.00	0	C	NM_020536		18168007	18168007	+1	no_errors	ENST00000278816	ensembl	human	known	69_37n	missense	115	18.44	26	SNP	1.000	G
CSTF3	1479	genome.wustl.edu	37	11	33123740	33123740	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:33123740G>A	ENST00000323959.4	-	10	948	c.809C>T	c.(808-810)aCc>aTc	p.T270I	TCP11L1_ENST00000324357.9_Intron	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	270					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						TGTTATAAGGGTCTGATCCTC	0.398																																						dbGAP											0													162.0	149.0	153.0					11																	33123740		2202	4298	6500	-	-	-	SO:0001583	missense	0			U15782	CCDS7883.1, CCDS44563.1, CCDS44564.1	11p13	2007-01-05	2002-08-29		ENSG00000176102	ENSG00000176102			2485	protein-coding gene	gene with protein product		600367	"""cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kD"""			7984242	Standard	XM_006718154		Approved	CstF-77	uc001muh.3	Q12996	OTTHUMG00000166268	ENST00000323959.4:c.809C>T	11.37:g.33123740G>A	ENSP00000315791:p.Thr270Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K471|D3DR04|E9PB40|Q32P22|Q96FQ8|Q96QD6|Q96QK4	Missense_Mutation	SNP	pfam_Suf,smart_HAT	p.T270I	ENST00000323959.4	37	c.809	CCDS7883.1	11	.	.	.	.	.	.	.	.	.	.	G	15.07	2.723697	0.48728	.	.	ENSG00000176102	ENST00000323959;ENST00000537832	T	0.34275	1.37	5.77	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.32734	0.0839	L	0.41961	1.31	0.80722	D	1	B	0.24132	0.098	B	0.23018	0.043	T	0.06570	-1.0819	10	0.38643	T	0.18	.	14.9243	0.70866	0.0688:0.0:0.9312:0.0	.	270	Q12996	CSTF3_HUMAN	I	270;203	ENSP00000315791:T270I	ENSP00000315791:T270I	T	-	2	0	CSTF3	33080316	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.863000	0.99569	1.447000	0.47661	0.591000	0.81541	ACC	CSTF3	-	NULL	ENSG00000176102		0.398	CSTF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSTF3	HGNC	protein_coding	OTTHUMT00000388801.1	183	0.00	0	G	NM_001326		33123740	33123740	-1	no_errors	ENST00000323959	ensembl	human	known	69_37n	missense	97	41.57	69	SNP	1.000	A
CT47B1	643311	genome.wustl.edu	37	X	120008888	120008888	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:120008888C>T	ENST00000371311.3	-	1	891	c.637G>A	c.(637-639)Gag>Aag	p.E213K		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	213										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						CTGGCCATCTCGGCCAGGTCA	0.701																																						dbGAP											0													26.0	25.0	25.0					X																	120008888		692	1590	2282	-	-	-	SO:0001583	missense	0				CCDS48161.1	Xq24	2014-05-06	2011-03-24		ENSG00000236446	ENSG00000236446			33293	protein-coding gene	gene with protein product	"""cancer/testis CT47 family, member 13"""	300790				16382448	Standard	NM_001145718		Approved	CT47.13	uc011muc.2	P0C2W7	OTTHUMG00000187483	ENST00000371311.3:c.637G>A	X.37:g.120008888C>T	ENSP00000360360:p.Glu213Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NM97	Missense_Mutation	SNP	NULL	p.E213K	ENST00000371311.3	37	c.637	CCDS48161.1	X	.	.	.	.	.	.	.	.	.	.	C	10.58	1.389142	0.25118	.	.	ENSG00000236446	ENST00000371311	.	.	.	1.24	0.275	0.15659	.	.	.	.	.	T	0.13927	0.0337	L	0.32530	0.975	0.09310	N	1	P	0.44578	0.838	B	0.23150	0.044	T	0.15464	-1.0436	8	0.41790	T	0.15	.	4.8168	0.13371	0.0:0.405:0.595:0.0	.	213	P0C2W7	CT47B_HUMAN	K	213	.	ENSP00000360360:E213K	E	-	1	0	CT47B1	119892916	0.000000	0.05858	0.001000	0.08648	0.077000	0.17291	-2.108000	0.01336	0.018000	0.15052	0.171000	0.16805	GAG	CT47B1	-	NULL	ENSG00000236446		0.701	CT47B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CT47B1	HGNC	protein_coding	OTTHUMT00000058121.1	115	0.00	0	C	NM_001145718		120008888	120008888	-1	no_errors	ENST00000371311	ensembl	human	known	69_37n	missense	74	23.71	23	SNP	0.001	T
CTBP1	1487	genome.wustl.edu	37	4	1222122	1222122	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:1222122C>T	ENST00000290921.6	-	3	386	c.205G>A	c.(205-207)Gag>Aag	p.E69K	CTBP1_ENST00000382952.3_Missense_Mutation_p.E58K	NM_001328.2	NP_001319.1	Q13363	CTBP1_HUMAN	C-terminal binding protein 1	69	Interaction with GLIS2 1. {ECO:0000250}.				Golgi organization (GO:0007030)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone H4 acetylation (GO:0090241)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone deacetylation (GO:0031065)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of transcription by chromatin organization (GO:0034401)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		CCCACAGCCTCGTTCAGGACC	0.617																																						dbGAP											0													118.0	108.0	111.0					4																	1222122		2203	4300	6503	-	-	-	SO:0001583	missense	0			U37408	CCDS3348.1, CCDS43203.1	4p16	2008-02-05			ENSG00000159692	ENSG00000159692			2494	protein-coding gene	gene with protein product	"""brefeldin A-ribosylated substrate"""	602618				9479502	Standard	XM_005272261		Approved	BARS	uc003gcv.1	Q13363	OTTHUMG00000089259	ENST00000290921.6:c.205G>A	4.37:g.1222122C>T	ENSP00000290921:p.Glu69Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W5N3|Q7Z2Q5	Missense_Mutation	SNP	pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom,pfam_6PGDH_NADP-bd	p.E69K	ENST00000290921.6	37	c.205	CCDS3348.1	4	.	.	.	.	.	.	.	.	.	.	C	17.08	3.298448	0.60195	.	.	ENSG00000159692	ENST00000382952;ENST00000290921;ENST00000506180;ENST00000514210;ENST00000515399;ENST00000513420	T;T;T;T;T;T	0.56444	0.46;0.46;0.46;0.46;0.46;0.46	4.85	4.85	0.62838	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.72195	0.3430	M	0.73217	2.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.74293	-0.3712	10	0.49607	T	0.09	-31.527	17.9751	0.89124	0.0:1.0:0.0:0.0	.	69;58	Q13363;Q7Z2Q5	CTBP1_HUMAN;.	K	58;69;63;58;58;58	ENSP00000372411:E58K;ENSP00000290921:E69K;ENSP00000424684:E63K;ENSP00000426470:E58K;ENSP00000425053:E58K;ENSP00000420983:E58K	ENSP00000290921:E69K	E	-	1	0	CTBP1	1212122	1.000000	0.71417	0.779000	0.31741	0.094000	0.18550	7.447000	0.80620	2.223000	0.72356	0.655000	0.94253	GAG	CTBP1	-	pfam_D-isomer_2_OHA_DH_cat_dom	ENSG00000159692		0.617	CTBP1-001	KNOWN	basic|CCDS	protein_coding	CTBP1	HGNC	protein_coding	OTTHUMT00000202938.1	68	0.00	0	C	NM_001328		1222122	1222122	-1	no_errors	ENST00000290921	ensembl	human	known	69_37n	missense	48	27.27	18	SNP	1.000	T
CTBP1	1487	genome.wustl.edu	37	4	1232007	1232007	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:1232007G>A	ENST00000290921.6	-	2	340	c.159C>T	c.(157-159)ttC>ttT	p.F53F	CTBP1_ENST00000382952.3_Silent_p.F42F|CTBP1_ENST00000515690.1_5'UTR|CTBP1_ENST00000510568.1_Silent_p.F42F	NM_001328.2	NP_001319.1	Q13363	CTBP1_HUMAN	C-terminal binding protein 1	53	Interaction with GLIS2 1. {ECO:0000250}.				Golgi organization (GO:0007030)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone H4 acetylation (GO:0090241)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone deacetylation (GO:0031065)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of transcription by chromatin organization (GO:0034401)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		GCGCGTCGCAGAAGGCCACAG	0.667																																						dbGAP											0													68.0	66.0	67.0					4																	1232007		2203	4298	6501	-	-	-	SO:0001819	synonymous_variant	0			U37408	CCDS3348.1, CCDS43203.1	4p16	2008-02-05			ENSG00000159692	ENSG00000159692			2494	protein-coding gene	gene with protein product	"""brefeldin A-ribosylated substrate"""	602618				9479502	Standard	XM_005272261		Approved	BARS	uc003gcv.1	Q13363	OTTHUMG00000089259	ENST00000290921.6:c.159C>T	4.37:g.1232007G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W5N3|Q7Z2Q5	Silent	SNP	pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom,pfam_6PGDH_NADP-bd	p.F53	ENST00000290921.6	37	c.159	CCDS3348.1	4																																																																																			CTBP1	-	pfam_D-isomer_2_OHA_DH_cat_dom	ENSG00000159692		0.667	CTBP1-001	KNOWN	basic|CCDS	protein_coding	CTBP1	HGNC	protein_coding	OTTHUMT00000202938.1	10	0.00	0	G	NM_001328		1232007	1232007	-1	no_errors	ENST00000290921	ensembl	human	known	69_37n	silent	9	30.77	4	SNP	1.000	A
CTC1	80169	genome.wustl.edu	37	17	8146451	8146451	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:8146451C>G	ENST00000315684.8	-	2	56	c.49G>C	c.(49-51)Gag>Cag	p.E17Q	CTC1_ENST00000581671.1_Intron	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	17					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						TGAGCATCCTCAAGCCAGGCT	0.433																																						dbGAP											0													42.0	38.0	39.0					17																	8146451		1902	4120	6022	-	-	-	SO:0001583	missense	0			AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"""conserved telomere maintenance component 1"", ""alpha accessory factor 132"", ""conserved telomere capping protein 1"""	613129	"""tmp494178"", ""chromosome 17 open reading frame 68"""	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.49G>C	17.37:g.8146451C>G	ENSP00000313759:p.Glu17Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Missense_Mutation	SNP	NULL	p.E17Q	ENST00000315684.8	37	c.49	CCDS42259.1	17	.	.	.	.	.	.	.	.	.	.	C	11.58	1.681498	0.29872	.	.	ENSG00000178971	ENST00000315684;ENST00000449476	D;D	0.83755	-1.76;-1.6	5.53	-0.351	0.12602	.	0.309004	0.27901	N	0.017385	T	0.71031	0.3292	L	0.42245	1.32	0.26729	N	0.970638	B	0.26708	0.157	B	0.27715	0.082	T	0.56165	-0.8024	10	0.23302	T	0.38	-6.8436	6.7583	0.23526	0.0:0.3711:0.4597:0.1692	.	17	Q2NKJ3	CTC1_HUMAN	Q	17	ENSP00000313759:E17Q;ENSP00000396018:E17Q	ENSP00000313759:E17Q	E	-	1	0	CTC1	8087176	0.941000	0.31946	0.965000	0.40720	0.175000	0.22909	0.384000	0.20668	0.132000	0.18615	-0.947000	0.02670	GAG	CTC1	-	NULL	ENSG00000178971		0.433	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CTC1	HGNC	protein_coding	OTTHUMT00000442012.1	27	0.00	0	C	NM_025099		8146451	8146451	-1	no_errors	ENST00000315684	ensembl	human	known	69_37n	missense	22	43.59	17	SNP	0.926	G
CTCFL	140690	genome.wustl.edu	37	20	56073662	56073662	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:56073662C>G	ENST00000608263.1	-	10	2597	c.1936G>C	c.(1936-1938)Gag>Cag	p.E646Q	CTCFL_ENST00000371196.2_Missense_Mutation_p.E646Q|CTCFL_ENST00000429804.3_Missense_Mutation_p.E596Q|CTCFL_ENST00000243914.3_Missense_Mutation_p.E646Q|CTCFL_ENST00000423479.3_Missense_Mutation_p.E646Q|CTCFL_ENST00000609232.1_Missense_Mutation_p.E646Q	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	646					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|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)|transcription regulatory region DNA binding (GO:0044212)	p.E646Q(1)		NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			TCCACTTCCTCTTTGACTCTG	0.527																																						dbGAP											1	Substitution - Missense(1)	lung(1)											182.0	151.0	162.0					20																	56073662		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"""Zinc fingers, C2H2-type"""	16234	protein-coding gene	gene with protein product	"""cancer/testis antigen 27"""	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.1936G>C	20.37:g.56073662C>G	ENSP00000476783:p.Glu646Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E646Q	ENST00000608263.1	37	c.1936	CCDS13459.1	20	.	.	.	.	.	.	.	.	.	.	C	14.28	2.487855	0.44249	.	.	ENSG00000124092	ENST00000423479;ENST00000243914;ENST00000371196;ENST00000429804	T;T;T;T	0.13420	2.59;2.65;2.65;2.9	4.27	-4.0	0.04057	.	0.981751	0.08249	N	0.974962	T	0.06962	0.0177	L	0.27053	0.805	0.09310	N	1	B;B;B;B	0.18461	0.004;0.028;0.004;0.004	B;B;B;B	0.11329	0.004;0.006;0.004;0.003	T	0.44314	-0.9336	10	0.09338	T	0.73	0.0459	5.6201	0.17453	0.0:0.2536:0.4427:0.3037	.	596;646;646;646	E7EUE3;A1L4C6;A6XGL8;Q8NI51	.;.;.;CTCFL_HUMAN	Q	646;646;646;596	ENSP00000415579:E646Q;ENSP00000243914:E646Q;ENSP00000360239:E646Q;ENSP00000415329:E596Q	ENSP00000243914:E646Q	E	-	1	0	CTCFL	55507068	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.438000	0.02416	-1.373000	0.02134	0.491000	0.48974	GAG	CTCFL	-	NULL	ENSG00000124092		0.527	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	CTCFL	HGNC	protein_coding	OTTHUMT00000472040.1	89	0.00	0	C	NM_080618		56073662	56073662	-1	no_errors	ENST00000423479	ensembl	human	known	69_37n	missense	177	11.94	24	SNP	0.000	G
CTCFL	140690	genome.wustl.edu	37	20	56099181	56099181	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:56099181C>T	ENST00000608263.1	-	1	742	c.81G>A	c.(79-81)ctG>ctA	p.L27L	CTCFL_ENST00000608440.1_Silent_p.L27L|CTCFL_ENST00000432255.2_Silent_p.L27L|CTCFL_ENST00000608425.1_Silent_p.L27L|CTCFL_ENST00000422869.2_Silent_p.L27L|CTCFL_ENST00000608858.1_Intron|CTCFL_ENST00000371196.2_Silent_p.L27L|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000429804.3_Silent_p.L27L|CTCFL_ENST00000243914.3_Silent_p.L27L|CTCFL_ENST00000608158.1_Silent_p.L27L|CTCFL_ENST00000423479.3_Silent_p.L27L|CTCFL_ENST00000608903.1_Intron|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000609232.1_Silent_p.L27L|CTCFL_ENST00000433949.3_Intron|CTCFL_ENST00000481655.2_Silent_p.L27L	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	27					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|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)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CCTCCTCCTTCAGGCCTTTTT	0.527																																						dbGAP											0													235.0	262.0	253.0					20																	56099181		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"""Zinc fingers, C2H2-type"""	16234	protein-coding gene	gene with protein product	"""cancer/testis antigen 27"""	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.81G>A	20.37:g.56099181C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L27	ENST00000608263.1	37	c.81	CCDS13459.1	20																																																																																			CTCFL	-	NULL	ENSG00000124092		0.527	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	CTCFL	HGNC	protein_coding	OTTHUMT00000472040.1	129	0.00	0	C	NM_080618		56099181	56099181	-1	no_errors	ENST00000423479	ensembl	human	known	69_37n	silent	227	11.33	29	SNP	0.002	T
CTPS1	1503	genome.wustl.edu	37	1	41457506	41457506	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:41457506G>A	ENST00000372621.4	+	7	1217	c.709G>A	c.(709-711)Gag>Aag	p.E237K	CTPS1_ENST00000541520.1_Missense_Mutation_p.E6K|CTPS1_ENST00000543104.1_Missense_Mutation_p.E244K|CTPS1_ENST00000372616.1_Missense_Mutation_p.E237K	NM_001905.2	NP_001896.2			CTP synthase 1											endometrium(3)|lung(10)	13						CTGCCATGTTGAGCCTGAACA	0.393																																						dbGAP											0													114.0	105.0	108.0					1																	41457506		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC009408	CCDS459.1	1p34.1	2012-05-02	2012-05-02	2012-05-02	ENSG00000171793	ENSG00000171793	6.3.4.2		2519	protein-coding gene	gene with protein product		123860	"""CTP synthase"""	CTPS		1783378	Standard	XM_005270536		Approved		uc001cgk.4	P17812	OTTHUMG00000005712	ENST00000372621.4:c.709G>A	1.37:g.41457506G>A	ENSP00000361704:p.Glu237Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_CTP_synthase_N,pfam_GATASE_1,pfam_Peptidase_C26,tigrfam_CTP_synthase	p.E237K	ENST00000372621.4	37	c.709	CCDS459.1	1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.992549	0.74703	.	.	ENSG00000171793	ENST00000372621;ENST00000541520;ENST00000543104;ENST00000372616	T;T;T	0.44083	0.95;0.93;0.95	6.17	6.17	0.99709	CTP synthase, N-terminal (1);	0.042335	0.85682	D	0.000000	T	0.37461	0.1004	L	0.33339	1.005	0.80722	D	1	B;B	0.14012	0.009;0.009	B;B	0.23852	0.02;0.049	T	0.08743	-1.0707	10	0.21540	T	0.41	.	19.4432	0.94831	0.0:0.0:1.0:0.0	.	244;237	B7Z9C4;P17812	.;PYRG1_HUMAN	K	237;6;244;237	ENSP00000361704:E237K;ENSP00000442646:E6K;ENSP00000361699:E237K	ENSP00000361699:E237K	E	+	1	0	CTPS	41230093	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.373000	0.97168	2.941000	0.99782	0.655000	0.94253	GAG	CTPS1	-	pfam_CTP_synthase_N,tigrfam_CTP_synthase	ENSG00000171793		0.393	CTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTPS1	HGNC	protein_coding	OTTHUMT00000015629.1	63	0.00	0	G	NM_001905		41457506	41457506	+1	no_errors	ENST00000372616	ensembl	human	known	69_37n	missense	54	26.03	19	SNP	1.000	A
CTSA	5476	genome.wustl.edu	37	20	44520933	44520933	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:44520933C>T	ENST00000372459.2	+	3	521	c.328C>T	c.(328-330)Ctg>Ttg	p.L110L	NEURL2_ENST00000372518.4_5'Flank|CTSA_ENST00000372484.3_Silent_p.L128L|RP3-337O18.9_ENST00000607703.1_RNA|CTSA_ENST00000191018.5_Silent_p.L110L|CTSA_ENST00000354880.5_Intron			P10619	PPGB_HUMAN	cathepsin A	110					glycosphingolipid metabolic process (GO:0006687)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|enzyme activator activity (GO:0008047)|serine-type carboxypeptidase activity (GO:0004185)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				TGGTGTCACCCTGGAGTACAA	0.547																																						dbGAP											0													218.0	205.0	210.0					20																	44520933		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M22960	CCDS13385.2, CCDS46609.1, CCDS54467.1	20q13.12	2012-02-10	2006-12-05	2006-12-05	ENSG00000064601	ENSG00000064601	3.4.16.5	"""Cathepsins"""	9251	protein-coding gene	gene with protein product	"""carboxypeptidase C"", ""lysosomal protective protein"", ""carboxypeptidase-L"", ""carboxypeptidase Y-like kininase"", ""deamidase"", ""lysosomal carboxypeptidase A"", ""urinary kininase"""	613111	"""protective protein for beta-galactosidase (galactosialidosis)"""	GSL, PPGB		2071143	Standard	NM_000308		Approved		uc002xqh.3	P10619	OTTHUMG00000033078	ENST00000372459.2:c.328C>T	20.37:g.44520933C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R798|Q561W6|Q5JZH1|Q96KJ2|Q9BR08|Q9BW68	Silent	SNP	pfam_Peptidase_S10,prints_Peptidase_S10	p.L128	ENST00000372459.2	37	c.382	CCDS46609.1	20																																																																																			CTSA	-	pfam_Peptidase_S10	ENSG00000064601		0.547	CTSA-012	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	CTSA	HGNC	protein_coding	OTTHUMT00000471297.2	188	0.00	0	C	NM_000308		44520933	44520933	+1	no_errors	ENST00000372484	ensembl	human	known	69_37n	silent	84	69.68	193	SNP	0.682	T
CTSF	8722	genome.wustl.edu	37	11	66335102	66335102	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:66335102C>T	ENST00000310325.5	-	3	453	c.344G>A	c.(343-345)gGa>gAa	p.G115E	CTSF_ENST00000533168.1_5'UTR	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	115					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|vesicle (GO:0031982)	cysteine-type endopeptidase activity (GO:0004197)			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CACGTGTCTTCCGAGCTCATC	0.597																																						dbGAP											0													75.0	78.0	77.0					11																	66335102		2200	4295	6495	-	-	-	SO:0001583	missense	0			AF071749	CCDS8144.1	11q13.2	2012-02-29			ENSG00000174080	ENSG00000174080		"""Cathepsins"""	2531	protein-coding gene	gene with protein product		603539				9822672, 10318784	Standard	NM_003793		Approved	CATSF, CLN13	uc001oip.3	Q9UBX1	OTTHUMG00000167090	ENST00000310325.5:c.344G>A	11.37:g.66335102C>T	ENSP00000310832:p.Gly115Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R964|O95240|Q9NSU4|Q9UKQ5	Missense_Mutation	SNP	pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C	p.G115E	ENST00000310325.5	37	c.344	CCDS8144.1	11	.	.	.	.	.	.	.	.	.	.	C	9.746	1.166267	0.21621	.	.	ENSG00000174080	ENST00000310325;ENST00000526010	T;T	0.71461	-0.57;0.83	4.97	3.04	0.35103	.	0.799060	0.11483	N	0.559492	T	0.52917	0.1764	L	0.27053	0.805	0.09310	N	1	P	0.39282	0.666	B	0.35859	0.212	T	0.38845	-0.9642	10	0.35671	T	0.21	.	6.4281	0.21780	0.0:0.7756:0.0:0.2244	.	115	Q9UBX1	CATF_HUMAN	E	115;23	ENSP00000310832:G115E;ENSP00000435822:G23E	ENSP00000310832:G115E	G	-	2	0	CTSF	66091678	0.132000	0.22450	0.142000	0.22268	0.015000	0.08874	1.361000	0.34136	1.196000	0.43129	0.462000	0.41574	GGA	CTSF	-	NULL	ENSG00000174080		0.597	CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSF	HGNC	protein_coding	OTTHUMT00000393047.1	39	0.00	0	C	NM_003793		66335102	66335102	-1	no_errors	ENST00000310325	ensembl	human	known	69_37n	missense	46	26.98	17	SNP	0.014	T
CUBN	8029	genome.wustl.edu	37	10	16870915	16870915	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:16870915G>C	ENST00000377833.4	-	66	10718	c.10653C>G	c.(10651-10653)atC>atG	p.I3551M		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3551	CUB 27. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGTAGAAGTTGATGGTGACAA	0.532																																						dbGAP											0													189.0	149.0	162.0					10																	16870915		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.10653C>G	10.37:g.16870915G>C	ENSP00000367064:p.Ile3551Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	pfam_CUB,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_CUB,pfscan_CUB,pfscan_EG-like_dom	p.I3551M	ENST00000377833.4	37	c.10653	CCDS7113.1	10	.	.	.	.	.	.	.	.	.	.	G	12.69	2.013369	0.35511	.	.	ENSG00000107611	ENST00000377833;ENST00000545090	T	0.19938	2.11	5.94	2.96	0.34315	CUB (5);	0.568938	0.14551	N	0.312662	T	0.28333	0.0700	L	0.52759	1.655	0.80722	D	1	P	0.44006	0.824	P	0.51866	0.682	T	0.02966	-1.1088	10	0.59425	D	0.04	.	6.5479	0.22416	0.2137:0.2315:0.5548:0.0	.	3551	O60494	CUBN_HUMAN	M	3551;392	ENSP00000367064:I3551M	ENSP00000367064:I3551M	I	-	3	3	CUBN	16910921	1.000000	0.71417	0.766000	0.31476	0.002000	0.02628	1.162000	0.31786	0.836000	0.34901	-0.291000	0.09656	ATC	CUBN	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB	ENSG00000107611		0.532	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	HGNC	protein_coding	OTTHUMT00000047009.1	98	0.00	0	G	NM_001081		16870915	16870915	-1	no_errors	ENST00000377833	ensembl	human	known	69_37n	missense	64	28.09	25	SNP	0.998	C
CUBN	8029	genome.wustl.edu	37	10	16957859	16957859	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:16957859C>A	ENST00000377833.4	-	46	7236	c.7171G>T	c.(7171-7173)Gaa>Taa	p.E2391*		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2391	CUB 17. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAGTCTTTTTCACAGCCAGAA	0.413																																						dbGAP											0													76.0	77.0	76.0					10																	16957859		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.7171G>T	10.37:g.16957859C>A	ENSP00000367064:p.Glu2391*	Somatic		WXS	Illumina GAIIx	Phase_IV	B0YIZ4|Q5VTA6|Q96RU9	Nonsense_Mutation	SNP	pfam_CUB,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_CUB,pfscan_CUB,pfscan_EG-like_dom	p.E2391*	ENST00000377833.4	37	c.7171	CCDS7113.1	10	.	.	.	.	.	.	.	.	.	.	C	48	14.023826	0.99775	.	.	ENSG00000107611	ENST00000377833	.	.	.	5.79	2.91	0.33838	.	0.609570	0.14586	N	0.310553	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	.	5.8523	0.18699	0.1258:0.6062:0.0:0.268	.	.	.	.	X	2391	.	ENSP00000367064:E2391X	E	-	1	0	CUBN	16997865	0.642000	0.27260	0.991000	0.47740	0.808000	0.45660	-0.113000	0.10774	0.794000	0.33899	0.644000	0.83932	GAA	CUBN	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB	ENSG00000107611		0.413	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	HGNC	protein_coding	OTTHUMT00000047009.1	116	0.00	0	C	NM_001081		16957859	16957859	-1	no_errors	ENST00000377833	ensembl	human	known	69_37n	nonsense	85	19.81	21	SNP	0.035	A
CUBN	8029	genome.wustl.edu	37	10	16960708	16960708	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:16960708G>A	ENST00000377833.4	-	45	6978	c.6913C>T	c.(6913-6915)Cag>Tag	p.Q2305*		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2305	CUB 16. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAGGACCACTGACTGCTGGGC	0.443																																						dbGAP											0													75.0	64.0	68.0					10																	16960708		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.6913C>T	10.37:g.16960708G>A	ENSP00000367064:p.Gln2305*	Somatic		WXS	Illumina GAIIx	Phase_IV	B0YIZ4|Q5VTA6|Q96RU9	Nonsense_Mutation	SNP	pfam_CUB,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_CUB,pfscan_CUB,pfscan_EG-like_dom	p.Q2305*	ENST00000377833.4	37	c.6913	CCDS7113.1	10	.	.	.	.	.	.	.	.	.	.	G	46	12.712863	0.99690	.	.	ENSG00000107611	ENST00000377833	.	.	.	5.6	3.65	0.41850	.	1.220930	0.06012	N	0.649673	.	.	.	.	.	.	0.35714	D	0.816602	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	7.0888	0.25272	0.151:0.1419:0.7072:0.0	.	.	.	.	X	2305	.	ENSP00000367064:Q2305X	Q	-	1	0	CUBN	17000714	1.000000	0.71417	0.066000	0.19879	0.381000	0.30169	5.081000	0.64444	1.330000	0.45394	0.650000	0.86243	CAG	CUBN	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB	ENSG00000107611		0.443	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	HGNC	protein_coding	OTTHUMT00000047009.1	84	0.00	0	G	NM_001081		16960708	16960708	-1	no_errors	ENST00000377833	ensembl	human	known	69_37n	nonsense	70	30.00	30	SNP	0.058	A
CUBN	8029	genome.wustl.edu	37	10	16967398	16967398	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:16967398G>A	ENST00000377833.4	-	43	6553	c.6488C>T	c.(6487-6489)tCt>tTt	p.S2163F		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2163	CUB 15. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CAAGGGTGGAGAACAGATATC	0.383																																						dbGAP											0													51.0	52.0	51.0					10																	16967398		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.6488C>T	10.37:g.16967398G>A	ENSP00000367064:p.Ser2163Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	pfam_CUB,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_CUB,pfscan_CUB,pfscan_EG-like_dom	p.S2163F	ENST00000377833.4	37	c.6488	CCDS7113.1	10	.	.	.	.	.	.	.	.	.	.	G	20.2	3.947355	0.73672	.	.	ENSG00000107611	ENST00000377833	T	0.20200	2.09	5.32	4.39	0.52855	CUB (5);	0.000000	0.46758	D	0.000277	T	0.52741	0.1753	M	0.90369	3.11	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.61481	-0.7054	10	0.72032	D	0.01	.	14.5599	0.68128	0.0717:0.0:0.9283:0.0	.	2163	O60494	CUBN_HUMAN	F	2163	ENSP00000367064:S2163F	ENSP00000367064:S2163F	S	-	2	0	CUBN	17007404	1.000000	0.71417	0.998000	0.56505	0.822000	0.46500	7.149000	0.77396	2.778000	0.95560	0.655000	0.94253	TCT	CUBN	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB	ENSG00000107611		0.383	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	HGNC	protein_coding	OTTHUMT00000047009.1	51	0.00	0	G	NM_001081		16967398	16967398	-1	no_errors	ENST00000377833	ensembl	human	known	69_37n	missense	40	27.27	15	SNP	1.000	A
CUL4B	8450	genome.wustl.edu	37	X	119691862	119691862	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:119691862C>T	ENST00000404115.3	-	4	1044	c.643G>A	c.(643-645)Gaa>Aaa	p.E215K	CUL4B_ENST00000371322.5_Missense_Mutation_p.E197K|CUL4B_ENST00000336592.6_Missense_Mutation_p.E202K	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	215					cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGCCAGGTTTCATCTGTGTAG	0.328																																						dbGAP											0													174.0	146.0	156.0					X																	119691862		2203	4299	6502	-	-	-	SO:0001583	missense	0			U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.643G>A	X.37:g.119691862C>T	ENSP00000384109:p.Glu215Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	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.E215K	ENST00000404115.3	37	c.643	CCDS35379.1	X	.	.	.	.	.	.	.	.	.	.	C	17.36	3.369869	0.61624	.	.	ENSG00000158290	ENST00000371322;ENST00000336592;ENST00000404115;ENST00000371323	T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13	5.54	5.54	0.83059	Cullin repeat-like-containing domain (1);	0.097760	0.64402	D	0.000001	T	0.65502	0.2697	N	0.20845	0.615	0.80722	D	1	B;B	0.23650	0.054;0.089	B;B	0.19946	0.012;0.027	T	0.60895	-0.7172	9	.	.	.	-16.2187	17.3369	0.87283	0.0:1.0:0.0:0.0	.	215;197	Q13620;Q13620-1	CUL4B_HUMAN;.	K	197;202;215;19	ENSP00000360373:E197K;ENSP00000338919:E202K;ENSP00000384109:E215K;ENSP00000360374:E19K	.	E	-	1	0	CUL4B	119575890	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.062000	0.71155	2.307000	0.77673	0.589000	0.80489	GAA	CUL4B	-	superfamily_Cullin_repeat-like_dom	ENSG00000158290		0.328	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	CUL4B	HGNC	protein_coding	OTTHUMT00000058103.1	325	0.00	0	C	NM_003588		119691862	119691862	-1	no_errors	ENST00000404115	ensembl	human	known	69_37n	missense	222	21.83	62	SNP	1.000	T
CUL7	9820	genome.wustl.edu	37	6	43013069	43013069	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:43013069C>T	ENST00000265348.3	-	15	3019	c.2934G>A	c.(2932-2934)cgG>cgA	p.R978R	CUL7_ENST00000535468.1_Silent_p.R1062R|CUL7_ENST00000478630.1_5'Flank			Q14999	CUL7_HUMAN	cullin 7	978	DOC. {ECO:0000255|PROSITE- ProRule:PRU00614}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			AGAGCTGCTCCCGGAACACTG	0.592																																						dbGAP											0													168.0	149.0	155.0					6																	43013069		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"""KIAA0076"""	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.2934G>A	6.37:g.43013069C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DYZ0|F5H0L1|Q5T654	Silent	SNP	pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.R1062	ENST00000265348.3	37	c.3186	CCDS4881.1	6																																																																																			CUL7	-	NULL	ENSG00000044090		0.592	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL7	HGNC	protein_coding	OTTHUMT00000040575.1	80	0.00	0	C	NM_014780		43013069	43013069	-1	no_errors	ENST00000535468	ensembl	human	known	69_37n	silent	58	27.50	22	SNP	1.000	T
CUL7	9820	genome.wustl.edu	37	6	43017793	43017793	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:43017793C>G	ENST00000265348.3	-	6	1562	c.1477G>C	c.(1477-1479)Gag>Cag	p.E493Q	CUL7_ENST00000535468.1_Missense_Mutation_p.E577Q|CUL7_ENST00000478630.1_5'Flank			Q14999	CUL7_HUMAN	cullin 7	493					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TCCCACCACTCAGCCAGGGTC	0.567																																						dbGAP											0													115.0	104.0	107.0					6																	43017793		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"""KIAA0076"""	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.1477G>C	6.37:g.43017793C>G	ENSP00000265348:p.Glu493Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP	pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.E577Q	ENST00000265348.3	37	c.1729	CCDS4881.1	6	.	.	.	.	.	.	.	.	.	.	C	27.9	4.875148	0.91664	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	T;T	0.65916	-0.18;-0.18	5.12	5.12	0.69794	.	0.057494	0.64402	D	0.000002	T	0.75481	0.3855	M	0.71206	2.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.78775	-0.2072	10	0.87932	D	0	-18.4576	18.5836	0.91181	0.0:1.0:0.0:0.0	.	577;493	F5H0L1;Q14999	.;CUL7_HUMAN	Q	493;577	ENSP00000265348:E493Q;ENSP00000438788:E577Q	ENSP00000265348:E493Q	E	-	1	0	CUL7	43125771	1.000000	0.71417	0.948000	0.38648	0.988000	0.76386	5.050000	0.64251	2.395000	0.81488	0.655000	0.94253	GAG	CUL7	-	NULL	ENSG00000044090		0.567	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL7	HGNC	protein_coding	OTTHUMT00000040575.1	55	0.00	0	C	NM_014780		43017793	43017793	-1	no_errors	ENST00000535468	ensembl	human	known	69_37n	missense	56	20.00	14	SNP	1.000	G
CWC22	57703	genome.wustl.edu	37	2	180815395	180815395	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:180815395C>G	ENST00000410053.3	-	19	2283	c.1984G>C	c.(1984-1986)Gag>Cag	p.E662Q	CWC22_ENST00000295749.6_Missense_Mutation_p.E662Q	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein	662					mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						TTATTTTGCTCAACATCTGGT	0.423																																						dbGAP											0													149.0	156.0	154.0					2																	180815395		2023	4188	6211	-	-	-	SO:0001583	missense	0				CCDS46465.1	2q31.3	2014-07-03	2014-07-03		ENSG00000163510	ENSG00000163510			29322	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein b"""	615186	"""CWC22 spliceosome-associated protein homolog (S. cerevisiae)"""			9136012, 23236153	Standard	NM_020943		Approved	KIAA1604, EIF4GL, fSAPb, NCM	uc010frh.1	Q9HCG8	OTTHUMG00000154244	ENST00000410053.3:c.1984G>C	2.37:g.180815395C>G	ENSP00000387006:p.Glu662Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q05DC2|Q4G135|Q52LF0|Q6PEX2|Q7Z6I0|Q9H5L3|Q9H6Q6	Missense_Mutation	SNP	pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI	p.E662Q	ENST00000410053.3	37	c.1984	CCDS46465.1	2	.	.	.	.	.	.	.	.	.	.	C	28.7	4.944856	0.92593	.	.	ENSG00000163510	ENST00000410053;ENST00000295749;ENST00000404136	T;T;T	0.24723	1.91;1.91;1.84	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.51432	0.1674	M	0.68952	2.095	0.58432	D	0.999999	D	0.69078	0.997	D	0.75484	0.986	T	0.18429	-1.0337	10	0.33141	T	0.24	-21.2634	19.848	0.96722	0.0:1.0:0.0:0.0	.	662	Q9HCG8	CWC22_HUMAN	Q	662	ENSP00000387006:E662Q;ENSP00000295749:E662Q;ENSP00000384159:E662Q	ENSP00000295749:E662Q	E	-	1	0	CWC22	180523640	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.487000	0.81328	2.937000	0.99478	0.650000	0.86243	GAG	CWC22	-	NULL	ENSG00000163510		0.423	CWC22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CWC22	HGNC	protein_coding	OTTHUMT00000334537.1	155	0.00	0	C	NM_020943		180815395	180815395	-1	no_errors	ENST00000295749	ensembl	human	known	69_37n	missense	140	16.67	28	SNP	1.000	G
CWC27	10283	genome.wustl.edu	37	5	64314107	64314107	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:64314107G>A	ENST00000381070.3	+	14	1595	c.1378G>A	c.(1378-1380)Gaa>Aaa	p.E460K	RP11-307L14.1_ENST00000607786.1_lincRNA|CWC27_ENST00000545000.1_3'UTR|RP11-307L14.2_ENST00000606057.1_lincRNA	NM_005869.2	NP_005860.2	Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	460					mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						AAGGAGGGAAGAAAGCAAAAA	0.368																																						dbGAP											0													72.0	75.0	74.0					5																	64314107		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF039692	CCDS3982.2, CCDS75252.1	5q12.3	2010-01-26	2010-01-26	2010-01-26	ENSG00000153015	ENSG00000153015			10664	protein-coding gene	gene with protein product			"""serologically defined colon cancer antigen 10"""	SDCCAG10		9610721, 19941820	Standard	XM_005248399		Approved	NY-CO-10	uc003jtn.1	Q6UX04	OTTHUMG00000074069	ENST00000381070.3:c.1378G>A	5.37:g.64314107G>A	ENSP00000370460:p.Glu460Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O60529|O60530|Q96EM3	Missense_Mutation	SNP	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.E460K	ENST00000381070.3	37	c.1378	CCDS3982.2	5	.	.	.	.	.	.	.	.	.	.	G	33	5.265816	0.95399	.	.	ENSG00000153015	ENST00000381070	T	0.24151	1.87	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.48822	0.1521	L	0.54323	1.7	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	T	0.05500	-1.0881	10	0.32370	T	0.25	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	460	Q6UX04	CWC27_HUMAN	K	460	ENSP00000370460:E460K	ENSP00000370460:E460K	E	+	1	0	CWC27	64349863	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.451000	0.80668	2.941000	0.99782	0.655000	0.94253	GAA	CWC27	-	NULL	ENSG00000153015		0.368	CWC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CWC27	HGNC	protein_coding	OTTHUMT00000157247.4	53	0.00	0	G	NM_005869		64314107	64314107	+1	no_errors	ENST00000381070	ensembl	human	known	69_37n	missense	50	21.88	14	SNP	1.000	A
CXCR4	7852	genome.wustl.edu	37	2	136873300	136873300	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:136873300C>T	ENST00000241393.3	-	2	302	c.198G>A	c.(196-198)caG>caA	p.Q66Q	CXCR4_ENST00000466288.1_5'UTR|CXCR4_ENST00000409817.1_Silent_p.Q70Q	NM_003467.2	NP_003458.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	66					activation of MAPK activity (GO:0000187)|ameboidal cell migration (GO:0001667)|apoptotic process (GO:0006915)|brain development (GO:0007420)|calcium-mediated signaling (GO:0019722)|cellular response to cytokine stimulus (GO:0071345)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|entry into host cell (GO:0030260)|G-protein coupled receptor signaling pathway (GO:0007186)|germ cell development (GO:0007281)|germ cell migration (GO:0008354)|inflammatory response (GO:0006954)|motor neuron axon guidance (GO:0008045)|myelin maintenance (GO:0043217)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|neutrophil activation (GO:0042119)|patterning of blood vessels (GO:0001569)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of cell migration (GO:0030334)|regulation of chemotaxis (GO:0050920)|response to hypoxia (GO:0001666)|response to virus (GO:0009615)|T cell proliferation (GO:0042098)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|G-protein coupled receptor activity (GO:0004930)|myosin light chain binding (GO:0032027)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|virus receptor activity (GO:0001618)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)|Plerixafor(DB06809)	TCAGTTTCTTCTGGTAACCCA	0.493																																						dbGAP											0													194.0	186.0	189.0					2																	136873300		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF005058	CCDS33295.1, CCDS46420.1	2q21	2014-09-17	2002-08-22		ENSG00000121966	ENSG00000121966		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"""	2561	protein-coding gene	gene with protein product		162643	"""chemokine (C-X-C motif), receptor 4 (fusin)"""			9599023, 9379028	Standard	NM_001008540		Approved	LESTR, NPY3R, HM89, NPYY3R, D2S201E, fusin, HSY3RR, NPYR, CD184	uc002tuz.3	P61073	OTTHUMG00000153583	ENST00000241393.3:c.198G>A	2.37:g.136873300C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5N0|O60835|P30991|P56438|Q53S69|Q9BXA0|Q9UKN2	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_Chemokine_CXCR4_N,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Chemokine_CXCR4,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_rcpt	p.Q70	ENST00000241393.3	37	c.210	CCDS46420.1	2																																																																																			CXCR4	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Chemokine_CXCR4,prints_Chemokine_rcpt	ENSG00000121966		0.493	CXCR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CXCR4	HGNC	protein_coding	OTTHUMT00000331732.1	105	0.00	0	C			136873300	136873300	-1	no_errors	ENST00000409817	ensembl	human	known	69_37n	silent	113	22.60	33	SNP	1.000	T
CXCR2P1	3580	genome.wustl.edu	37	2	218925583	218925583	+	RNA	SNP	G	G	C	rs143243596	byFrequency	TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:218925583G>C	ENST00000439871.1	-	0	797					NR_002712.1				chemokine (C-X-C motif) receptor 2 pseudogene 1																		TGGATGGGTAGAAGGTCCTTC	0.512																																						dbGAP											0																																										-	-	-			0			M98335		2q35	2012-05-02	2010-04-14	2010-04-14	ENSG00000229754	ENSG00000229754			6028	pseudogene	pseudogene			"""interleukin 8 receptor, beta pseudogene"", ""chemokine (C-X-C motif) receptor 2 pseudogene"""	IL8RBP, CXCR2P		1427896, 1303245	Standard	NR_002712		Approved		uc002vgx.3		OTTHUMG00000155244		2.37:g.218925583G>C		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000439871.1	37	NULL		2																																																																																			CXCR2P1	-	-	ENSG00000229754		0.512	CXCR2P1-002	KNOWN	basic	processed_transcript	CXCR2P1	HGNC	pseudogene	OTTHUMT00000338985.1	44	0.00	0	G	NR_002712		218925583	218925583	-1	no_errors	ENST00000439871	ensembl	human	known	69_37n	rna	49	22.22	14	SNP	0.057	C
CXCR5	643	genome.wustl.edu	37	11	118764307	118764307	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:118764307C>T	ENST00000292174.4	+	2	230	c.54C>T	c.(52-54)ttC>ttT	p.F18F		NM_001716.4|NM_032966.2	NP_001707.1|NP_116743.1	P32302	CXCR5_HUMAN	chemokine (C-X-C motif) receptor 5	18					B cell activation (GO:0042113)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|lymph node development (GO:0048535)|positive regulation of cytokinesis (GO:0032467)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|G-protein coupled receptor activity (GO:0004930)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		CCTTGCAGTTCTGGGAACTGG	0.552																																						dbGAP											0													64.0	63.0	64.0					11																	118764307		2200	4295	6495	-	-	-	SO:0001819	synonymous_variant	0			X68829	CCDS8402.1	11q23.3	2012-08-08	2008-01-22	2008-01-22	ENSG00000160683	ENSG00000160683		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"""	1060	protein-coding gene	gene with protein product		601613	"""Burkitt lymphoma receptor 1, GTP-binding protein"", ""Burkitt lymphoma receptor 1, GTP binding protein (chemokine (C-X-C motif) receptor 5)"""	BLR1		1425907	Standard	NM_001716		Approved	MDR15, CD185	uc001pue.4	P32302	OTTHUMG00000166345	ENST00000292174.4:c.54C>T	11.37:g.118764307C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14811	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Chemokine_CXCR5,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_CXCR4,prints_ATII_rcpt	p.F18	ENST00000292174.4	37	c.54	CCDS8402.1	11																																																																																			CXCR5	-	prints_Chemokine_CXCR5	ENSG00000160683		0.552	CXCR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXCR5	HGNC	protein_coding	OTTHUMT00000389309.1	24	0.00	0	C	NM_001716		118764307	118764307	+1	no_errors	ENST00000292174	ensembl	human	known	69_37n	silent	24	36.84	14	SNP	0.288	T
ACKR3	57007	genome.wustl.edu	37	2	237489207	237489207	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:237489207G>T	ENST00000272928.3	+	2	409	c.99G>T	c.(97-99)atG>atT	p.M33I		NM_020311.2	NP_064707.1	P25106	ACKR3_HUMAN	atypical chemokine receptor 3	33					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|receptor internalization (GO:0031623)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-X-C chemokine binding (GO:0019958)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|scavenger receptor activity (GO:0005044)										ACACGGTGATGTGTCCCAACA	0.527																																						dbGAP											0													229.0	140.0	171.0					2																	237489207		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC008459	CCDS2516.1	2q37.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144476	ENSG00000144476		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : Atypical"""	23692	protein-coding gene	gene with protein product		610376	"""chemokine orphan receptor 1"", ""chemokine (C-X-C motif) receptor 7"""	CMKOR1, CXCR7		16107333, 16148	Standard	NM_020311		Approved	RDC1, GPR159	uc002vwd.3	P25106	OTTHUMG00000133295	ENST00000272928.3:c.99G>T	2.37:g.237489207G>T	ENSP00000272928:p.Met33Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6J4|Q53RV4|Q8NE10|Q92938|Q92986	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_RDC1_rcpt,prints_7TM_GPCR_Rhodpsn,prints_ATII_rcpt,prints_P2_purnocptor,prints_Frt_met_rcpt	p.M33I	ENST00000272928.3	37	c.99	CCDS2516.1	2	.	.	.	.	.	.	.	.	.	.	G	8.286	0.816625	0.16607	.	.	ENSG00000144476	ENST00000447924;ENST00000272928	T;T	0.33216	1.42;1.42	5.57	3.71	0.42584	.	0.803035	0.11240	N	0.584700	T	0.14356	0.0347	N	0.08118	0	0.24184	N	0.995573	B	0.02656	0.0	B	0.04013	0.001	T	0.30621	-0.9972	10	0.22706	T	0.39	.	5.3205	0.15879	0.1633:0.359:0.4777:0.0	.	33	P25106	CXCR7_HUMAN	I	33	ENSP00000405945:M33I;ENSP00000272928:M33I	ENSP00000272928:M33I	M	+	3	0	CXCR7	237153946	1.000000	0.71417	0.495000	0.27527	0.983000	0.72400	1.925000	0.40074	0.657000	0.30906	0.563000	0.77884	ATG	CXCR7	-	prints_RDC1_rcpt	ENSG00000144476		0.527	ACKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXCR7	HGNC	protein_coding	OTTHUMT00000257079.2	64	0.00	0	G	NM_020311		237489207	237489207	+1	no_errors	ENST00000272928	ensembl	human	known	69_37n	missense	78	14.29	13	SNP	0.670	T
CXorf22	170063	genome.wustl.edu	37	X	35969363	35969363	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:35969363G>C	ENST00000297866.5	+	5	838	c.772G>C	c.(772-774)Ggt>Cgt	p.G258R		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	258										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						CATACACTTTGGTCCTGTTTT	0.403																																						dbGAP											0													116.0	99.0	105.0					X																	35969363		2202	4300	6502	-	-	-	SO:0001583	missense	0			BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.772G>C	X.37:g.35969363G>C	ENSP00000297866:p.Gly258Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JRM8|Q8N6X8	Missense_Mutation	SNP	superfamily_PapD-like	p.G258R	ENST00000297866.5	37	c.772	CCDS14237.2	X	.	.	.	.	.	.	.	.	.	.	G	13.54	2.268544	0.40095	.	.	ENSG00000165164	ENST00000297866	T	0.34667	1.35	5.75	4.89	0.63831	.	0.050319	0.85682	D	0.000000	T	0.60274	0.2256	M	0.78801	2.425	0.38403	D	0.945703	D	0.89917	1.0	D	0.97110	1.0	T	0.67150	-0.5743	10	0.66056	D	0.02	-7.9556	12.6897	0.56968	0.0806:0.0:0.9194:0.0	.	258	Q6ZTR5	CX022_HUMAN	R	258	ENSP00000297866:G258R	ENSP00000297866:G258R	G	+	1	0	CXorf22	35879284	1.000000	0.71417	0.671000	0.29857	0.016000	0.09150	5.267000	0.65530	1.174000	0.42811	0.506000	0.49869	GGT	CXorf22	-	NULL	ENSG00000165164		0.403	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf22	HGNC	protein_coding	OTTHUMT00000056216.2	96	0.00	0	G	NM_152632		35969363	35969363	+1	no_errors	ENST00000297866	ensembl	human	known	69_37n	missense	77	41.67	55	SNP	1.000	C
CXorf22	170063	genome.wustl.edu	37	X	35989991	35989991	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:35989991C>G	ENST00000297866.5	+	13	2229	c.2163C>G	c.(2161-2163)ctC>ctG	p.L721L		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	721										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TACAGGTTCTCAAAGGACTTA	0.318																																						dbGAP											0													26.0	22.0	24.0					X																	35989991		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.2163C>G	X.37:g.35989991C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JRM8|Q8N6X8	Silent	SNP	superfamily_PapD-like	p.L721	ENST00000297866.5	37	c.2163	CCDS14237.2	X																																																																																			CXorf22	-	NULL	ENSG00000165164		0.318	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf22	HGNC	protein_coding	OTTHUMT00000056216.2	47	0.00	0	C	NM_152632		35989991	35989991	+1	no_errors	ENST00000297866	ensembl	human	known	69_37n	silent	33	25.00	11	SNP	0.000	G
CXorf30	645090	genome.wustl.edu	37	X	36366381	36366381	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:36366381G>A	ENST00000378657.4	+	12	1567	c.919G>A	c.(919-921)Gag>Aag	p.E307K		NM_001098843.4	NP_001092313.2	A6PW82	CX030_HUMAN	chromosome X open reading frame 30	307										breast(1)|lung(2)|stomach(1)	4						CAATTTTGATGAGTTGGATAT	0.264																																						dbGAP											0													28.0	22.0	24.0					X																	36366381		691	1564	2255	-	-	-	SO:0001583	missense	0				CCDS55396.1	Xp21.1	2014-08-07			ENSG00000205081	ENSG00000205081			27298	protein-coding gene	gene with protein product							Standard	NM_001098843		Approved		uc011mkc.3	A6PW82	OTTHUMG00000021353	ENST00000378657.4:c.919G>A	X.37:g.36366381G>A	ENSP00000367926:p.Glu307Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.E307K	ENST00000378657.4	37	c.919	CCDS55396.1	X	.	.	.	.	.	.	.	.	.	.	G	12.11	1.839277	0.32513	.	.	ENSG00000205081	ENST00000378653;ENST00000378657	T;T	0.26067	1.77;1.76	4.71	4.71	0.59529	.	0.074011	0.56097	D	0.000030	T	0.25457	0.0619	L	0.47190	1.495	0.20821	N	0.999841	P	0.50528	0.936	P	0.46320	0.512	T	0.13548	-1.0505	10	0.39692	T	0.17	-20.1467	8.3978	0.32568	0.1112:0.0:0.8888:0.0	.	307	A6PW82	CX030_HUMAN	K	592;307	ENSP00000367922:E592K;ENSP00000367926:E307K	ENSP00000367922:E592K	E	+	1	0	CXorf30	36276302	1.000000	0.71417	0.130000	0.21974	0.012000	0.07955	3.423000	0.52756	2.084000	0.62774	0.523000	0.50628	GAG	CXorf30	-	NULL	ENSG00000205081		0.264	CXorf30-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf30	HGNC	protein_coding		38	0.00	0	G	NP_001092313		36366381	36366381	+1	no_errors	ENST00000378657	ensembl	human	known	69_37n	missense	37	13.95	6	SNP	0.513	A
PBDC1	51260	genome.wustl.edu	37	X	75394728	75394728	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:75394728G>C	ENST00000373358.3	+	3	303	c.100G>C	c.(100-102)Gac>Cac	p.D34H	PBDC1_ENST00000373357.3_Missense_Mutation_p.D34H	NM_016500.3	NP_057584.2	Q9BVG4	PBDC1_HUMAN	polysaccharide biosynthesis domain containing 1	34																	TTTGCAGCCTGACATTGAGAT	0.403																																						dbGAP											0													156.0	126.0	136.0					X																	75394728		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC001220	CCDS14432.1, CCDS75995.1	Xq13.2	2012-11-28	2012-11-28	2012-11-28	ENSG00000102390	ENSG00000102390			28790	protein-coding gene	gene with protein product			"""chromosome X open reading frame 26"""	CXorf26		11042152	Standard	NM_016500		Approved	MGC874	uc004ecl.1	Q9BVG4	OTTHUMG00000021876	ENST00000373358.3:c.100G>C	X.37:g.75394728G>C	ENSP00000362456:p.Asp34His	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Put_polysacc_synth	p.D34H	ENST00000373358.3	37	c.100	CCDS14432.1	X	.	.	.	.	.	.	.	.	.	.	G	19.60	3.857374	0.71834	.	.	ENSG00000102390	ENST00000373358;ENST00000373357	.	.	.	5.58	3.45	0.39498	Yst0336-like domain (1);	0.218418	0.46758	D	0.000277	T	0.44891	0.1315	L	0.51422	1.61	0.31725	N	0.637786	D	0.62365	0.991	P	0.54856	0.762	T	0.55328	-0.8158	9	0.87932	D	0	-32.3854	5.0717	0.14609	0.3715:0.0:0.6285:0.0	.	34	Q9BVG4	CX026_HUMAN	H	34	.	ENSP00000362455:D34H	D	+	1	0	CXorf26	75311130	0.999000	0.42202	0.989000	0.46669	0.950000	0.60333	2.362000	0.44169	1.250000	0.43966	0.600000	0.82982	GAC	CXorf26	-	NULL	ENSG00000102390		0.403	PBDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf26	HGNC	protein_coding	OTTHUMT00000057294.1	153	0.00	0	G	NM_016500		75394728	75394728	+1	no_errors	ENST00000373358	ensembl	human	known	69_37n	missense	76	18.28	17	SNP	0.996	C
CXorf58	254158	genome.wustl.edu	37	X	23953447	23953447	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:23953447C>G	ENST00000379211.3	+	7	1239	c.690C>G	c.(688-690)atC>atG	p.I230M		NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN	chromosome X open reading frame 58	230										breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						CTGGAGTGATCTCAAACCGTC	0.393																																						dbGAP											0													91.0	82.0	85.0					X																	23953447		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK058173	CCDS14209.1	Xp22.11	2012-11-28			ENSG00000165182	ENSG00000165182			26356	protein-coding gene	gene with protein product							Standard	NM_152761		Approved	FLJ25444	uc004daz.1	Q96LI9	OTTHUMG00000021258	ENST00000379211.3:c.690C>G	X.37:g.23953447C>G	ENSP00000368511:p.Ile230Met	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.I230M	ENST00000379211.3	37	c.690	CCDS14209.1	X	.	.	.	.	.	.	.	.	.	.	c	9.801	1.180468	0.21787	.	.	ENSG00000165182	ENST00000379211	T	0.33216	1.42	5.91	1.05	0.20165	.	0.399252	0.23336	N	0.049286	T	0.19287	0.0463	L	0.48362	1.52	0.22424	N	0.999119	P;P	0.43287	0.802;0.802	B;B	0.38428	0.273;0.273	T	0.12066	-1.0562	10	0.36615	T	0.2	-5.0058	1.9343	0.03333	0.1294:0.2694:0.3648:0.2365	.	230;230	B7ZLS7;Q96LI9	.;CX058_HUMAN	M	230	ENSP00000368511:I230M	ENSP00000368511:I230M	I	+	3	3	CXorf58	23863368	0.997000	0.39634	0.445000	0.26908	0.780000	0.44128	0.419000	0.21247	-0.005000	0.14395	0.417000	0.27973	ATC	CXorf58	-	NULL	ENSG00000165182		0.393	CXorf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf58	HGNC	protein_coding	OTTHUMT00000056071.1	63	0.00	0	C	NM_152761		23953447	23953447	+1	no_errors	ENST00000379211	ensembl	human	known	69_37n	missense	38	54.12	46	SNP	0.702	G
CXorf58	254158	genome.wustl.edu	37	X	23953535	23953535	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:23953535G>A	ENST00000379211.3	+	7	1327	c.778G>A	c.(778-780)Gaa>Aaa	p.E260K		NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN	chromosome X open reading frame 58	260										breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						GATTGTTTCTGAAATTAGGTA	0.398																																						dbGAP											0													50.0	40.0	43.0					X																	23953535		2202	4297	6499	-	-	-	SO:0001583	missense	0			AK058173	CCDS14209.1	Xp22.11	2012-11-28			ENSG00000165182	ENSG00000165182			26356	protein-coding gene	gene with protein product							Standard	NM_152761		Approved	FLJ25444	uc004daz.1	Q96LI9	OTTHUMG00000021258	ENST00000379211.3:c.778G>A	X.37:g.23953535G>A	ENSP00000368511:p.Glu260Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.E260K	ENST00000379211.3	37	c.778	CCDS14209.1	X	.	.	.	.	.	.	.	.	.	.	g	5.177	0.218250	0.09810	.	.	ENSG00000165182	ENST00000379211	T	0.28895	1.59	5.3	-4.2	0.03823	.	0.746656	0.12418	N	0.470648	T	0.14830	0.0358	N	0.25144	0.715	0.09310	N	1	B;B	0.20052	0.041;0.041	B;B	0.19666	0.026;0.026	T	0.40794	-0.9544	10	0.06625	T	0.88	-0.9028	10.7183	0.46026	0.2421:0.6088:0.149:0.0	.	260;260	B7ZLS7;Q96LI9	.;CX058_HUMAN	K	260	ENSP00000368511:E260K	ENSP00000368511:E260K	E	+	1	0	CXorf58	23863456	0.978000	0.34361	0.123000	0.21794	0.239000	0.25481	0.013000	0.13310	-0.409000	0.07553	0.460000	0.39030	GAA	CXorf58	-	NULL	ENSG00000165182		0.398	CXorf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf58	HGNC	protein_coding	OTTHUMT00000056071.1	34	0.00	0	G	NM_152761		23953535	23953535	+1	no_errors	ENST00000379211	ensembl	human	known	69_37n	missense	38	15.56	7	SNP	0.474	A
CXorf58	254158	genome.wustl.edu	37	X	23957414	23957414	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:23957414C>G	ENST00000379211.3	+	9	1542	c.993C>G	c.(991-993)atC>atG	p.I331M		NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN	chromosome X open reading frame 58	331										breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						TCCACTCCATCTTTTGACATT	0.373																																						dbGAP											0													117.0	105.0	109.0					X																	23957414		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK058173	CCDS14209.1	Xp22.11	2012-11-28			ENSG00000165182	ENSG00000165182			26356	protein-coding gene	gene with protein product							Standard	NM_152761		Approved	FLJ25444	uc004daz.1	Q96LI9	OTTHUMG00000021258	ENST00000379211.3:c.993C>G	X.37:g.23957414C>G	ENSP00000368511:p.Ile331Met	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.I331M	ENST00000379211.3	37	c.993	CCDS14209.1	X	.	.	.	.	.	.	.	.	.	.	C	9.045	0.990574	0.18966	.	.	ENSG00000165182	ENST00000379211	T	0.36157	1.27	5.08	0.117	0.14652	.	1.167770	0.06354	N	0.710451	T	0.23965	0.0580	N	0.14661	0.345	0.09310	N	1	P;P	0.43701	0.815;0.815	P;P	0.45610	0.487;0.487	T	0.10405	-1.0631	10	0.51188	T	0.08	2.7043	1.5598	0.02593	0.4039:0.303:0.1298:0.1632	.	329;331	B7ZLS7;Q96LI9	.;CX058_HUMAN	M	331	ENSP00000368511:I331M	ENSP00000368511:I331M	I	+	3	3	CXorf58	23867335	0.308000	0.24509	0.000000	0.03702	0.010000	0.07245	0.529000	0.23019	-0.233000	0.09797	-0.494000	0.04653	ATC	CXorf58	-	NULL	ENSG00000165182		0.373	CXorf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf58	HGNC	protein_coding	OTTHUMT00000056071.1	125	0.00	0	C	NM_152761		23957414	23957414	+1	no_errors	ENST00000379211	ensembl	human	known	69_37n	missense	114	18.57	26	SNP	0.000	G
CXorf65	158830	genome.wustl.edu	37	X	70325953	70325953	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:70325953C>T	ENST00000374251.5	-	3	195	c.147G>A	c.(145-147)atG>atA	p.M49I		NM_001025265.2	NP_001020436.1	A6NEN9	CX065_HUMAN	chromosome X open reading frame 65	49										breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)	10						AAAGCATCTTCATTTTCCCCG	0.498																																						dbGAP											0													180.0	139.0	153.0					X																	70325953		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC144434	CCDS35324.1	Xq13.1	2009-03-06			ENSG00000204165	ENSG00000204165			33713	protein-coding gene	gene with protein product							Standard	NM_001025265		Approved		uc011mpo.2	A6NEN9	OTTHUMG00000021785	ENST00000374251.5:c.147G>A	X.37:g.70325953C>T	ENSP00000363369:p.Met49Ile	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.M49I	ENST00000374251.5	37	c.147	CCDS35324.1	X	.	.	.	.	.	.	.	.	.	.	C	10.85	1.468047	0.26335	.	.	ENSG00000204165	ENST00000374251;ENST00000438526	T;T	0.44083	0.93;0.94	5.01	5.01	0.66863	.	0.324927	0.34338	N	0.004058	T	0.36936	0.0985	L	0.42245	1.32	0.33425	D	0.580309	B	0.33807	0.426	B	0.37692	0.256	T	0.52366	-0.8585	10	0.37606	T	0.19	0.2401	10.3673	0.44033	0.0:0.8067:0.1933:0.0	.	49	A6NEN9	CX065_HUMAN	I	49	ENSP00000363369:M49I;ENSP00000411354:M49I	ENSP00000363369:M49I	M	-	3	0	CXorf65	70242678	1.000000	0.71417	0.913000	0.36048	0.111000	0.19643	2.391000	0.44424	2.312000	0.78011	0.600000	0.82982	ATG	CXorf65	-	NULL	ENSG00000204165		0.498	CXorf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf65	HGNC	protein_coding	OTTHUMT00000057089.2	182	0.00	0	C	NM_001025265		70325953	70325953	-1	no_errors	ENST00000374251	ensembl	human	known	69_37n	missense	142	22.40	41	SNP	0.985	T
CXorf57	55086	genome.wustl.edu	37	X	105905389	105905389	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:105905389G>A	ENST00000372548.4	+	12	2232	c.2123G>A	c.(2122-2124)cGg>cAg	p.R708Q	CXorf57_ENST00000372544.2_Missense_Mutation_p.R611Q|CXorf57_ENST00000497124.1_3'UTR	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	708							poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						AGTATTCCACGGAAATTTATG	0.408																																						dbGAP											0													88.0	81.0	83.0					X																	105905389		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK024253	CCDS14519.1, CCDS55470.1	Xq22.3	2008-02-05			ENSG00000147231	ENSG00000147231			25486	protein-coding gene	gene with protein product							Standard	NM_018015		Approved	FLJ14191, FLJ10178	uc004emi.4	Q6NSI4	OTTHUMG00000022150	ENST00000372548.4:c.2123G>A	X.37:g.105905389G>A	ENSP00000361628:p.Arg708Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	H7BY89|Q4G0L7|Q5JQS1|Q5JRF9|Q6PHY5|Q6PII9|Q6PJU8|Q9H7W5|Q9NWA6	Missense_Mutation	SNP	superfamily_NA-bd_OB-fold-like	p.R708Q	ENST00000372548.4	37	c.2123	CCDS14519.1	X	.	.	.	.	.	.	.	.	.	.	G	18.14	3.557233	0.65425	.	.	ENSG00000147231	ENST00000372544;ENST00000372548;ENST00000421550	T;T;T	0.56941	0.46;0.52;0.43	4.84	4.84	0.62591	.	0.237484	0.42682	D	0.000671	T	0.67887	0.2941	M	0.64997	1.995	0.22888	N	0.998608	D;D	0.89917	1.0;1.0	D;D	0.66847	0.947;0.947	T	0.61652	-0.7019	10	0.54805	T	0.06	-6.8403	14.9812	0.71313	0.0:0.0:1.0:0.0	.	708;708	A8K6R5;Q6NSI4	.;CX057_HUMAN	Q	611;708;419	ENSP00000361623:R611Q;ENSP00000361628:R708Q;ENSP00000405866:R419Q	ENSP00000361623:R611Q	R	+	2	0	CXorf57	105792045	1.000000	0.71417	0.991000	0.47740	0.414000	0.31173	2.566000	0.45948	2.342000	0.79632	0.538000	0.68166	CGG	CXorf57	-	NULL	ENSG00000147231		0.408	CXorf57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf57	HGNC	protein_coding	OTTHUMT00000057800.2	98	0.00	0	G	NM_018015		105905389	105905389	+1	no_errors	ENST00000372548	ensembl	human	known	69_37n	missense	60	21.05	16	SNP	1.000	A
CYB5D1	124637	genome.wustl.edu	37	17	7761522	7761522	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:7761522G>A	ENST00000332439.4	+	1	222	c.70G>A	c.(70-72)Gag>Aag	p.E24K	CYB5D1_ENST00000570446.1_Missense_Mutation_p.E24K|LSMD1_ENST00000333775.5_5'Flank|LSMD1_ENST00000575771.1_5'Flank|CYB5D1_ENST00000571846.1_Missense_Mutation_p.E24K|LSMD1_ENST00000570555.1_Intron|LSMD1_ENST00000575071.1_5'Flank|LSMD1_ENST00000576384.1_5'Flank|LSMD1_ENST00000576861.1_Intron|LSMD1_ENST00000575208.1_5'Flank|LSMD1_ENST00000335155.5_5'Flank	NM_144607.4	NP_653208.2	Q6P9G0	CB5D1_HUMAN	cytochrome b5 domain containing 1	24	Cytochrome b5 heme-binding. {ECO:0000255|PROSITE-ProRule:PRU00279}.						heme binding (GO:0020037)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(2)|skin(2)	6		all_cancers(10;0.11)|Prostate(122;0.219)				CACGCCGGCGGAGGTGGCCCA	0.587											OREG0024147	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													76.0	80.0	79.0					17																	7761522		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK057061	CCDS11123.1	17p13.1	2006-01-12	2006-01-12						26516	protein-coding gene	gene with protein product						12477932	Standard	NM_144607		Approved	FLJ32499	uc002gjb.4	Q6P9G0		ENST00000332439.4:c.70G>A	17.37:g.7761522G>A	ENSP00000331479:p.Glu24Lys	Somatic	644	WXS	Illumina GAIIx	Phase_IV	D3DTQ8|Q96DM7	Missense_Mutation	SNP	pfam_Cyt_B5,superfamily_Cyt_B5,pfscan_Cyt_B5	p.E24K	ENST00000332439.4	37	c.70	CCDS11123.1	17	.	.	.	.	.	.	.	.	.	.	G	32	5.167863	0.94768	.	.	ENSG00000182224	ENST00000332439;ENST00000541486	D	0.82893	-1.66	5.94	5.94	0.96194	Cytochrome b5 (4);	0.000000	0.85682	D	0.000000	D	0.94172	0.8130	H	0.95574	3.69	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.991	D	0.95149	0.8271	10	0.87932	D	0	-2.489	19.1347	0.93422	0.0:0.0:1.0:0.0	.	24;24	Q6P9G0-2;Q6P9G0	.;CB5D1_HUMAN	K	24	ENSP00000331479:E24K	ENSP00000331479:E24K	E	+	1	0	CYB5D1	7702247	1.000000	0.71417	0.958000	0.39756	0.932000	0.56968	8.335000	0.90031	2.826000	0.97356	0.561000	0.74099	GAG	CYB5D1	-	pfam_Cyt_B5,superfamily_Cyt_B5,pfscan_Cyt_B5	ENSG00000182224		0.587	CYB5D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYB5D1	HGNC	protein_coding	OTTHUMT00000440841.1	50	0.00	0	G	NM_144607		7761522	7761522	+1	no_errors	ENST00000332439	ensembl	human	known	69_37n	missense	38	17.39	8	SNP	1.000	A
CYB5RL	606495	genome.wustl.edu	37	1	54649921	54649921	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:54649921C>T	ENST00000534324.1	-	4	452	c.453G>A	c.(451-453)ctG>ctA	p.L151L	CYB5RL_ENST00000542737.1_Silent_p.L151L|MRPL37_ENST00000487096.1_3'UTR|RP11-446E24.4_ENST00000311841.7_3'UTR|CYB5RL_ENST00000287899.8_Silent_p.L151L|CYB5RL_ENST00000419823.2_Silent_p.L151L|CYB5RL_ENST00000537208.1_Silent_p.L151L|CYB5RL_ENST00000401046.3_Silent_p.L3L			Q6IPT4	NB5R5_HUMAN	cytochrome b5 reductase-like	151	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.						cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|urinary_tract(1)	8						ACCGGGACATCAGCCCCATCT	0.517																																						dbGAP											0													53.0	55.0	54.0					1																	54649921		2090	4234	6324	-	-	-	SO:0001819	synonymous_variant	0				CCDS44151.1	1p32.3	2011-04-08			ENSG00000215883	ENSG00000215883			32220	protein-coding gene	gene with protein product						12477932	Standard	NM_001031672		Approved	LOC606495	uc009vzo.3	Q6IPT4	OTTHUMG00000008082	ENST00000534324.1:c.453G>A	1.37:g.54649921C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZBS4|Q8NF25	Silent	SNP	pfam_OxRdtase_FAD-bd_dom,pfam_Oxidoreductase-like_N,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,prints_NADH-Cyt_B5_reductase,prints_Phe_hydroxylase	p.L151	ENST00000534324.1	37	c.453	CCDS44151.1	1																																																																																			CYB5RL	-	pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl	ENSG00000215883		0.517	CYB5RL-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	CYB5RL	HGNC	protein_coding	OTTHUMT00000388318.1	44	0.00	0	C	NM_001031672		54649921	54649921	-1	no_errors	ENST00000419823	ensembl	human	known	69_37n	silent	43	18.87	10	SNP	0.997	T
CYBB	1536	genome.wustl.edu	37	X	37664367	37664367	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:37664367C>T	ENST00000378588.4	+	10	1327	c.1260C>T	c.(1258-1260)ctC>ctT	p.L420L	CYBB_ENST00000545017.1_Silent_p.L388L|CYBB_ENST00000536160.1_Silent_p.L153L|TM4SF2_ENST00000465127.1_Intron	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	420			L -> P (in CGD; dbSNP:rs151344486). {ECO:0000269|PubMed:10914676}.		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)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|respiratory burst (GO:0045730)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagocytic vesicle membrane (GO:0030670)|rough endoplasmic reticulum (GO:0005791)	flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32					Dextromethorphan(DB00514)	CATCCATTCTCAAGTCAGTCT	0.473																																						dbGAP											0													205.0	133.0	157.0					X																	37664367		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			X04011	CCDS14242.1	Xp21.1	2014-09-17	2008-07-29		ENSG00000165168	ENSG00000165168		"""Cytochrome b genes"""	2578	protein-coding gene	gene with protein product		300481	"""chronic granulomatous disease"""	CGD			Standard	NM_000397		Approved	GP91-PHOX, NOX2	uc004ddr.2	P04839	OTTHUMG00000033175	ENST00000378588.4:c.1260C>T	X.37:g.37664367C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K138|Q2PP16	Silent	SNP	pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain	p.L420	ENST00000378588.4	37	c.1260	CCDS14242.1	X																																																																																			CYBB	-	pfam_Fe_red_NAD-bd_6,prints_Cyt_b245_heavy_chain	ENSG00000165168		0.473	CYBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYBB	HGNC	protein_coding	OTTHUMT00000080881.1	154	0.65	1	C			37664367	37664367	+1	no_errors	ENST00000378588	ensembl	human	known	69_37n	silent	145	29.27	60	SNP	1.000	T
CYBRD1	79901	genome.wustl.edu	37	2	172411263	172411263	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:172411263G>C	ENST00000321348.4	+	4	985	c.787G>C	c.(787-789)Gag>Cag	p.E263Q	CYBRD1_ENST00000409484.1_Missense_Mutation_p.E205Q|CYBRD1_ENST00000375252.3_3'UTR	NM_024843.3	NP_079119.3	Q53TN4	CYBR1_HUMAN	cytochrome b reductase 1	263					cellular iron ion homeostasis (GO:0006879)|response to iron ion (GO:0010039)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)|oxidoreductase activity, oxidizing metal ions (GO:0016722)			endometrium(1)|kidney(1)|large_intestine(3)|liver(2)|lung(3)	10						ATCAGATTCAGAGTTAAACAG	0.438																																						dbGAP											0													75.0	72.0	73.0					2																	172411263		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK027115	CCDS2244.1, CCDS46449.1, CCDS58736.1	2q31	2013-03-14			ENSG00000071967	ENSG00000071967		"""Cytochrome b genes"""	20797	protein-coding gene	gene with protein product	"""ferric-chelate reductase 3"", ""cytochrome b561 family, member A2"""	605745				11230685	Standard	NM_001127383		Approved	DCYTB, FLJ23462, FRRS3, CYB561A2	uc002ugy.4	Q53TN4	OTTHUMG00000132260	ENST00000321348.4:c.787G>C	2.37:g.172411263G>C	ENSP00000319141:p.Glu263Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RE79|B4DWD7|Q6KC16|Q6KC17|Q6P147|Q6ZR51|Q9H0Q8|Q9H5G5	Missense_Mutation	SNP	pfam_Cyt_b561_euk,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_Cyt_b561/ferric_Rdtase_TM	p.E263Q	ENST00000321348.4	37	c.787	CCDS2244.1	2	.	.	.	.	.	.	.	.	.	.	G	15.13	2.743396	0.49151	.	.	ENSG00000071967	ENST00000409484;ENST00000321348	T;T	0.58210	0.35;0.36	5.16	3.36	0.38483	.	0.302155	0.26879	N	0.022040	T	0.46483	0.1395	L	0.56769	1.78	0.80722	D	1	P	0.50272	0.933	B	0.39706	0.307	T	0.46898	-0.9158	10	0.59425	D	0.04	-1.9614	10.7685	0.46308	0.2131:0.0:0.7869:0.0	.	263	Q53TN4	CYBR1_HUMAN	Q	205;263	ENSP00000386739:E205Q;ENSP00000319141:E263Q	ENSP00000319141:E263Q	E	+	1	0	CYBRD1	172119509	1.000000	0.71417	0.915000	0.36163	0.850000	0.48378	4.429000	0.59901	0.576000	0.29452	-0.150000	0.13652	GAG	CYBRD1	-	NULL	ENSG00000071967		0.438	CYBRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYBRD1	HGNC	protein_coding	OTTHUMT00000255344.2	54	0.00	0	G	NM_024843		172411263	172411263	+1	no_errors	ENST00000321348	ensembl	human	known	69_37n	missense	60	16.67	12	SNP	0.990	C
CYC1	1537	genome.wustl.edu	37	8	145151520	145151520	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:145151520C>T	ENST00000318911.4	+	5	718	c.645C>T	c.(643-645)ctC>ctT	p.L215L	SHARPIN_ENST00000533948.1_5'Flank	NM_001916.3	NP_001907	P08574	CY1_HUMAN	cytochrome c-1	215			L -> F (in MC3DN6). {ECO:0000269|PubMed:23910460}.		cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|response to glucagon (GO:0033762)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|respiratory chain (GO:0070469)	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity (GO:0045155)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.L215L(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-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;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCTCCCTGCTCACGGGCTACT	0.602											OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											1	Substitution - coding silent(1)	kidney(1)											99.0	83.0	88.0					8																	145151520		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC001006	CCDS6415.1	8q24	2011-07-04			ENSG00000179091	ENSG00000179091		"""Mitochondrial respiratory chain complex / Complex III"""	2579	protein-coding gene	gene with protein product		123980					Standard	NM_001916		Approved	UQCR4	uc003zaz.4	P08574	OTTHUMG00000165242	ENST00000318911.4:c.645C>T	8.37:g.145151520C>T		Somatic	1692	WXS	Illumina GAIIx	Phase_IV	Q5U062|Q6FHS7	Silent	SNP	pfam_Cyt_c1,superfamily_Cyt_c_dom,superfamily_Cyt_c1_TM_anchor_C,prints_Cyt_c1	p.L215	ENST00000318911.4	37	c.645	CCDS6415.1	8																																																																																			CYC1	-	pfam_Cyt_c1,superfamily_Cyt_c_dom,prints_Cyt_c1	ENSG00000179091		0.602	CYC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYC1	HGNC	protein_coding	OTTHUMT00000382895.1	50	0.00	0	C	NM_001916		145151520	145151520	+1	no_errors	ENST00000318911	ensembl	human	known	69_37n	silent	88	20.00	22	SNP	1.000	T
CYFIP1	23191	genome.wustl.edu	37	15	22956470	22956470	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:22956470C>T	ENST00000313077.7	+	16	1832	c.1707C>T	c.(1705-1707)ctC>ctT	p.L569L	CYFIP1_ENST00000435939.2_Silent_p.L138L|CYFIP1_ENST00000560848.1_Silent_p.L569L	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TAGAGTCCCTCATTGCAGACA	0.408																																						dbGAP											0													85.0	83.0	84.0					15																	22956470		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"""selective hybridizing clone"", ""cytoplasmic FMRP interacting protein 1"""	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.1707C>T	15.37:g.22956470C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int	p.L569	ENST00000313077.7	37	c.1707	CCDS10009.1	15																																																																																			CYFIP1	-	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int	ENSG00000068793		0.408	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYFIP1	HGNC	protein_coding	OTTHUMT00000251136.2	68	0.00	0	C	NM_014608		22956470	22956470	+1	no_errors	ENST00000313077	ensembl	human	known	69_37n	silent	41	22.64	12	SNP	1.000	T
CYP17A1	1586	genome.wustl.edu	37	10	104592375	104592375	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:104592375G>A	ENST00000369887.3	-	6	1203	c.1032C>T	c.(1030-1032)atC>atT	p.I344I	CYP17A1-AS1_ENST00000369884.4_RNA|CYP17A1_ENST00000489268.1_5'Flank	NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN	cytochrome P450, family 17, subfamily A, polypeptide 1	344					adrenal gland development (GO:0030325)|androgen biosynthetic process (GO:0006702)|biphenyl metabolic process (GO:0018879)|cellular response to antibiotic (GO:0071236)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to lipopolysaccharide (GO:0071222)|dibenzo-p-dioxin metabolic process (GO:0018894)|glucocorticoid biosynthetic process (GO:0006704)|hippocampus development (GO:0021766)|hormone biosynthetic process (GO:0042446)|Leydig cell differentiation (GO:0033327)|ovulation (GO:0030728)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|progesterone metabolic process (GO:0042448)|response to acetate (GO:0010034)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to herbicide (GO:0009635)|response to insecticide (GO:0017085)|response to ionizing radiation (GO:0010212)|response to methylmercury (GO:0051597)|response to nutrient levels (GO:0031667)|response to retinoic acid (GO:0032526)|response to steroid hormone (GO:0048545)|sex differentiation (GO:0007548)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	axon (GO:0030424)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)	17-alpha-hydroxyprogesterone aldolase activity (GO:0047442)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|steroid 17-alpha-monooxygenase activity (GO:0004508)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	Abiraterone(DB05812)|Aminophenazone(DB01424)|Dexamethasone(DB01234)|Metoclopramide(DB01233)|Progesterone(DB00396)	TACGGTCACTGATAGTTGGTG	0.567																																						dbGAP											0													158.0	133.0	142.0					10																	104592375		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M19489	CCDS7541.1	10q24.3	2010-05-04	2003-02-14	2003-02-28	ENSG00000148795	ENSG00000148795	1.14.99.9	"""Cytochrome P450s"""	2593	protein-coding gene	gene with protein product	"""Steroid 17-alpha-monooxygenase"""	609300	"""cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase), adrenal hyperplasia"""	CYP17		1347802	Standard	NM_000102		Approved	P450C17, CPT7, S17AH	uc001kwg.3	P05093	OTTHUMG00000018969	ENST00000369887.3:c.1032C>T	10.37:g.104592375G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TZV7	Silent	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.I344	ENST00000369887.3	37	c.1032	CCDS7541.1	10																																																																																			CYP17A1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000148795		0.567	CYP17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP17A1	HGNC	protein_coding	OTTHUMT00000050101.1	61	0.00	0	G	NM_000102		104592375	104592375	-1	no_errors	ENST00000369887	ensembl	human	known	69_37n	silent	36	35.71	20	SNP	1.000	A
CYP1A1	1543	genome.wustl.edu	37	15	75014943	75014943	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:75014943C>T	ENST00000379727.3	-	2	694	c.496G>A	c.(496-498)Gag>Aag	p.E166K	CYP1A1_ENST00000395049.4_Missense_Mutation_p.E166K|CYP1A1_ENST00000395048.2_Missense_Mutation_p.E166K|CYP1A1_ENST00000567032.1_Missense_Mutation_p.E166K|CYP1A1_ENST00000564596.1_Intron			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	166					9-cis-retinoic acid biosynthetic process (GO:0042904)|aging (GO:0007568)|amine metabolic process (GO:0009308)|arachidonic acid metabolic process (GO:0019369)|camera-type eye development (GO:0043010)|cell proliferation (GO:0008283)|cellular lipid metabolic process (GO:0044255)|cellular response to organic cyclic compound (GO:0071407)|coumarin metabolic process (GO:0009804)|dibenzo-p-dioxin catabolic process (GO:0019341)|digestive tract development (GO:0048565)|drug metabolic process (GO:0017144)|embryo development ending in birth or egg hatching (GO:0009792)|epoxygenase P450 pathway (GO:0019373)|flavonoid metabolic process (GO:0009812)|hepatocyte differentiation (GO:0070365)|hydrogen peroxide biosynthetic process (GO:0050665)|insecticide metabolic process (GO:0017143)|maternal process involved in parturition (GO:0060137)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|response to antibiotic (GO:0046677)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to food (GO:0032094)|response to herbicide (GO:0009635)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to iron(III) ion (GO:0010041)|response to lipopolysaccharide (GO:0032496)|response to nematode (GO:0009624)|response to virus (GO:0009615)|response to vitamin A (GO:0033189)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|demethylase activity (GO:0032451)|flavonoid 3'-monooxygenase activity (GO:0016711)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on diphenols and related substances as donors (GO:0016679)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)|vitamin D 24-hydroxylase activity (GO:0070576)			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Acetaminophen(DB00316)|Albendazole(DB00518)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Caffeine(DB00201)|Carvedilol(DB01136)|Chloroquine(DB00608)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Clenbuterol(DB01407)|Clobetasol propionate(DB01013)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonidine(DB00575)|Clozapine(DB00363)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Dexamethasone(DB01234)|Dexmedetomidine(DB00633)|Diclofenac(DB00586)|Dicyclomine(DB00804)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Ethanol(DB00898)|Flunarizine(DB04841)|Fluorescein(DB00693)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Granisetron(DB00889)|Haloperidol(DB00502)|Isoprenaline(DB01064)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lorcaserin(DB04871)|Mebendazole(DB00643)|Melatonin(DB01065)|Menadione(DB00170)|Methoxsalen(DB00553)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitroprusside(DB00325)|Norfloxacin(DB01059)|Omeprazole(DB00338)|Ouabain(DB01092)|Oxaliplatin(DB00526)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Prazosin(DB00457)|Primaquine(DB01087)|Progesterone(DB00396)|Propofol(DB00818)|Propranolol(DB00571)|Pyridoxine(DB00165)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Riluzole(DB00740)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiabendazole(DB00730)|Ticlopidine(DB00208)|Toremifene(DB00539)|Tretinoin(DB00755)|Vitamin A(DB00162)|Warfarin(DB00682)	ACCTCAGCCTCCTTGCTCACA	0.572									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia																													dbGAP											0													79.0	76.0	77.0					15																	75014943		2197	4296	6493	-	-	-	SO:0001583	missense	0	Familial Cancer Database	;AIMAH, Cushing disease, Adrenal, Familial	BC023019	CCDS10268.1	15q24.1	2007-12-14	2003-01-14		ENSG00000140465	ENSG00000140465	1.14.14.1	"""Cytochrome P450s"""	2595	protein-coding gene	gene with protein product		108330	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 1"""	CYP1		15128046	Standard	NM_000499		Approved	P450DX, P1-450, P450-C, CP11	uc002ayp.4	P04798	OTTHUMG00000142812	ENST00000379727.3:c.496G>A	15.37:g.75014943C>T	ENSP00000369050:p.Glu166Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A4F3V9|A4F3W0|Q53G18	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP1,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450	p.E166K	ENST00000379727.3	37	c.496	CCDS10268.1	15	.	.	.	.	.	.	.	.	.	.	C	27.2	4.812108	0.90707	.	.	ENSG00000140465	ENST00000379727;ENST00000395048;ENST00000395049;ENST00000268062	T;T;T	0.70631	-0.5;-0.5;-0.5	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	D	0.91016	0.7174	H	0.98833	4.345	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94963	0.8110	10	0.87932	D	0	.	18.1191	0.89565	0.0:1.0:0.0:0.0	.	166;166	E7EMT5;P04798	.;CP1A1_HUMAN	K	166	ENSP00000369050:E166K;ENSP00000378488:E166K;ENSP00000378489:E166K	ENSP00000268062:E166K	E	-	1	0	CYP1A1	72801996	1.000000	0.71417	0.999000	0.59377	0.767000	0.43475	7.692000	0.84203	2.257000	0.74773	0.462000	0.41574	GAG	CYP1A1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000140465		0.572	CYP1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP1A1	HGNC	protein_coding	OTTHUMT00000286396.1	19	0.00	0	C	NM_000499		75014943	75014943	-1	no_errors	ENST00000379727	ensembl	human	known	69_37n	missense	34	15.00	6	SNP	1.000	T
CYP24A1	1591	genome.wustl.edu	37	20	52774034	52774034	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:52774034C>G	ENST00000216862.3	-	10	1720	c.1327G>C	c.(1327-1329)Gag>Cag	p.E443Q	CYP24A1_ENST00000460643.1_5'Flank|CYP24A1_ENST00000395955.3_Intron|CYP24A1_ENST00000395954.3_Missense_Mutation_p.E301Q	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	443					osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin D receptor signaling pathway (GO:0070561)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity (GO:0030342)|25-hydroxycholecalciferol-24-hydroxylase activity (GO:0008403)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Corticotropin(DB01285)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	TTTTCCTTCTCCTGAAGCCAA	0.423																																						dbGAP											0													98.0	91.0	94.0					20																	52774034		2203	4300	6503	-	-	-	SO:0001583	missense	0			U60669	CCDS33491.1, CCDS46616.1	20q13.2-q13.3	2003-02-28	2003-02-14	2003-02-28	ENSG00000019186	ENSG00000019186		"""Cytochrome P450s"""	2602	protein-coding gene	gene with protein product		126065	"""cytochrome P450, subfamily XXIV (vitamin D 24-hydroxylase)"""	CYP24			Standard	NM_000782		Approved	CP24, P450-CC24	uc002xwv.2	Q07973	OTTHUMG00000032773	ENST00000216862.3:c.1327G>C	20.37:g.52774034C>G	ENSP00000216862:p.Glu443Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15807|Q32ML3|Q5I2W7	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_CYP24A_mit,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450	p.E443Q	ENST00000216862.3	37	c.1327	CCDS33491.1	20	.	.	.	.	.	.	.	.	.	.	c	11.77	1.737618	0.30774	.	.	ENSG00000019186	ENST00000216862;ENST00000395954	T;T	0.81415	-0.61;-1.49	5.34	3.39	0.38822	.	0.308619	0.38663	N	0.001610	T	0.73513	0.3596	M	0.63169	1.94	0.29274	N	0.870454	B;B	0.25312	0.123;0.057	B;B	0.26517	0.07;0.032	T	0.65487	-0.6156	10	0.38643	T	0.18	-25.9365	4.6568	0.12622	0.0:0.5676:0.1622:0.2702	.	443;301	Q07973;Q5I2W7	CP24A_HUMAN;.	Q	443;301	ENSP00000216862:E443Q;ENSP00000379284:E301Q	ENSP00000216862:E443Q	E	-	1	0	CYP24A1	52207441	0.995000	0.38212	0.857000	0.33713	0.814000	0.46013	2.087000	0.41653	0.723000	0.32274	0.552000	0.68991	GAG	CYP24A1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000019186		0.423	CYP24A1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP24A1	HGNC	protein_coding	OTTHUMT00000079769.2	59	0.00	0	C			52774034	52774034	-1	no_errors	ENST00000216862	ensembl	human	known	69_37n	missense	63	12.50	9	SNP	0.918	G
CYP2C9	1559	genome.wustl.edu	37	10	96701682	96701682	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:96701682G>A	ENST00000260682.6	+	2	248	c.236G>A	c.(235-237)gGa>gAa	p.G79E	CYP2C9_ENST00000461906.1_3'UTR	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	79					arachidonic acid metabolic process (GO:0019369)|cellular amide metabolic process (GO:0043603)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|urea metabolic process (GO:0019627)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|caffeine oxidase activity (GO:0034875)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|steroid hydroxylase activity (GO:0008395)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Agomelatine(DB06594)|Alosetron(DB00969)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Atovaquone(DB01117)|Azelastine(DB00972)|Bexarotene(DB00307)|Bicalutamide(DB01128)|Bortezomib(DB00188)|Bosentan(DB00559)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabozantinib(DB08875)|Caffeine(DB00201)|Candesartan(DB00796)|Capecitabine(DB01101)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Celecoxib(DB00482)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Clevidipine(DB04920)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclizine(DB01176)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diclofenamide(DB01144)|Dicoumarol(DB00266)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disulfiram(DB00822)|Dolasetron(DB00757)|Donepezil(DB00843)|Dopamine(DB00988)|Dorzolamide(DB00869)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enzalutamide(DB08899)|Epinephrine(DB00668)|Epoprostenol(DB01240)|Eprosartan(DB00876)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Etodolac(DB00749)|Etoricoxib(DB01628)|Etravirine(DB06414)|Felodipine(DB01023)|Fenofibrate(DB01039)|Flecainide(DB01195)|Fluconazole(DB00196)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indinavir(DB00224)|Indomethacin(DB00328)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Lidocaine(DB00281)|Lopinavir(DB01601)|Loratadine(DB00455)|Lornoxicam(DB06725)|Losartan(DB00678)|Lovastatin(DB00227)|Lumiracoxib(DB01283)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Melatonin(DB01065)|Meloxicam(DB00814)|Mestranol(DB01357)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Metronidazole(DB00916)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Montelukast(DB00471)|Naproxen(DB00788)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Ospemifene(DB04938)|Oxaprozin(DB00991)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paroxetine(DB00715)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phentermine(DB00191)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quazepam(DB01589)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfadiazine(DB00359)|Sulfadimethoxine(DB06150)|Sulfamethizole(DB00576)|Sulfamethoxazole(DB01015)|Sulfamoxole(DB08798)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Sulfapyridine(DB00891)|Sulfinpyrazone(DB01138)|Sulfisoxazole(DB00263)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Temazepam(DB00231)|Teniposide(DB00444)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiamylal(DB01154)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Tolcapone(DB00323)|Tolterodine(DB01036)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Treprostinil(DB00374)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Valsartan(DB00177)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Ximelagatran(DB04898)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zidovudine(DB00495)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	GTGCTGCATGGATATGAAGCA	0.463																																					Ovarian(54;1266 1406 16072 35076)	dbGAP											0													288.0	273.0	278.0					10																	96701682		2203	4300	6503	-	-	-	SO:0001583	missense	0			M61855	CCDS7437.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138109	ENSG00000138109		"""Cytochrome P450s"""	2623	protein-coding gene	gene with protein product		601130	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9"""	CYP2C10		2009263, 7841444	Standard	NM_000771		Approved	P450IIC9	uc001kka.4	P11712	OTTHUMG00000018805	ENST00000260682.6:c.236G>A	10.37:g.96701682G>A	ENSP00000260682:p.Gly79Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	P11713|Q16756|Q16872|Q5VX92|Q6IRV8|Q8WW80	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.G79E	ENST00000260682.6	37	c.236	CCDS7437.1	10	.	.	.	.	.	.	.	.	.	.	.	16.31	3.088620	0.55968	.	.	ENSG00000138109	ENST00000545448;ENST00000260682	T	0.13307	2.6	3.34	3.34	0.38264	.	0.000000	0.64402	U	0.000001	T	0.45558	0.1348	M	0.93420	3.415	0.41541	D	0.988512	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.993;0.993;0.999	T	0.60571	-0.7237	10	0.72032	D	0.01	.	12.4947	0.55921	0.0:0.0:1.0:0.0	.	79;79;79	Q5VX92;P11712;Q8WW80	.;CP2C9_HUMAN;.	E	79	ENSP00000260682:G79E	ENSP00000260682:G79E	G	+	2	0	CYP2C9	96691672	1.000000	0.71417	0.994000	0.49952	0.371000	0.29859	8.053000	0.89449	1.840000	0.53500	0.484000	0.47621	GGA	CYP2C9	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000138109		0.463	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2C9	HGNC	protein_coding	OTTHUMT00000049501.1	301	0.33	1	G	NM_000771		96701682	96701682	+1	no_errors	ENST00000260682	ensembl	human	known	69_37n	missense	170	31.45	78	SNP	0.998	A
CYP2D6	1565	genome.wustl.edu	37	22	42523970	42523970	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:42523970C>T	ENST00000360608.5	-	6	973	c.859G>A	c.(859-861)Gag>Aag	p.E287K	NDUFA6-AS1_ENST00000434834.1_RNA|NDUFA6-AS1_ENST00000417327.1_RNA|NDUFA6-AS1_ENST00000416037.2_RNA|NDUFA6-AS1_ENST00000451451.1_RNA|NDUFA6-AS1_ENST00000439129.1_RNA|CYP2D6_ENST00000359033.4_Missense_Mutation_p.E236K|CYP2D6_ENST00000389970.3_Missense_Mutation_p.E287K	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	287					alkaloid catabolic process (GO:0009822)|alkaloid metabolic process (GO:0009820)|coumarin metabolic process (GO:0009804)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|isoquinoline alkaloid metabolic process (GO:0033076)|monoterpenoid metabolic process (GO:0016098)|negative regulation of binding (GO:0051100)|negative regulation of cellular organofluorine metabolic process (GO:0090350)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21					Abiraterone(DB05812)|Acebutolol(DB01193)|Acetaminophen(DB00316)|Ajmaline(DB01426)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alprenolol(DB00866)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amoxapine(DB00543)|Amphetamine(DB00182)|Amprenavir(DB00701)|Amsacrine(DB00276)|Antipyrine(DB01435)|Aprindine(DB01429)|Arformoterol(DB01274)|Aripiprazole(DB01238)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzatropine(DB00245)|Benzyl alcohol(DB06770)|Bepridil(DB01244)|Betaxolol(DB00195)|Bicalutamide(DB01128)|Biperiden(DB00810)|Bisoprolol(DB00612)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Caffeine(DB00201)|Captopril(DB01197)|Carbinoxamine(DB00748)|Carteolol(DB00521)|Carvedilol(DB01136)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Cisapride(DB00604)|Citalopram(DB00215)|Clemastine(DB00283)|Clevidipine(DB04920)|Clomipramine(DB01242)|Clonidine(DB00575)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Darifenacin(DB00496)|Debrisoquin(DB04840)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dihydrocodeine(DB01551)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronedarone(DB04855)|Duloxetine(DB00476)|Efavirenz(DB00625)|Eletriptan(DB00216)|Encainide(DB01228)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erlotinib(DB00530)|Escitalopram(DB01175)|Ethylmorphine(DB01466)|Etoricoxib(DB01628)|Felodipine(DB01023)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fingolimod(DB08868)|Flecainide(DB01195)|Flunarizine(DB04841)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Galantamine(DB00674)|Gefitinib(DB00317)|Glutethimide(DB01437)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Histamine Phosphate(DB00667)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Hydroxychloroquine(DB01611)|Hydroxyurea(DB01005)|Hydroxyzine(DB00557)|Idarubicin(DB01177)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Isoniazid(DB00951)|Itraconazole(DB01167)|Ketoconazole(DB01026)|L-DOPA(DB01235)|Labetalol(DB00598)|Lansoprazole(DB00448)|Lercanidipine(DB00528)|Levomilnacipran(DB08918)|Lidocaine(DB00281)|Lisuride(DB00589)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Lovastatin(DB00227)|Lumefantrine(DB06708)|Maprotiline(DB00934)|Mefloquine(DB00358)|Mepyramine(DB06691)|Mequitazine(DB01071)|Mesoridazine(DB00933)|Methadone(DB00333)|Methamphetamine(DB01577)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Methylnaltrexone(DB06800)|Methylphenidate(DB00422)|Methyprylon(DB01107)|Metoclopramide(DB01233)|Metoprolol(DB00264)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midodrine(DB00211)|Mifepristone(DB00834)|Minaprine(DB00805)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Morphine(DB00295)|Nateglinide(DB00731)|Nebivolol(DB04861)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niacin(DB00627)|Nicardipine(DB00622)|Nicergoline(DB00699)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitrofural(DB00336)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxamniquine(DB01096)|Oxprenolol(DB01580)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paliperidone(DB01267)|Palonosetron(DB00377)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Pergolide(DB01186)|Perhexiline(DB01074)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenformin(DB00914)|Phentermine(DB00191)|Pimozide(DB01100)|Pindolol(DB00960)|Pioglitazone(DB01132)|Piperazine(DB00592)|Pipotiazine(DB01621)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Primaquine(DB01087)|Procainamide(DB01035)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Pyrimethamine(DB00205)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Remoxipride(DB00409)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivastigmine(DB00989)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tapentadol(DB06204)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Terbinafine(DB00857)|Tetrabenazine(DB04844)|Theophylline(DB00277)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Timolol(DB00373)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tolterodine(DB01036)|Trabectedin(DB05109)|Tramadol(DB00193)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Trospium(DB00209)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vinorelbine(DB00361)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Ziprasidone(DB00246)|Zolpidem(DB00425)	AAGCTGCTCTCAGGGTTCCCC	0.612																																						dbGAP											0													83.0	71.0	75.0					22																	42523970		2196	4299	6495	-	-	-	SO:0001583	missense	0			M20403	CCDS33657.1, CCDS46721.1	22q13.1	2014-09-17	2003-01-14		ENSG00000100197	ENSG00000100197		"""Cytochrome P450s"""	2625	protein-coding gene	gene with protein product		124030	"""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6"", ""cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2"", ""cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2"", ""cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2"", ""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2"""	CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP		8449513	Standard	NM_000106		Approved	CPD6, P450-DB1, CYP2D, P450C2D	uc003bce.3	P10635	OTTHUMG00000150918	ENST00000360608.5:c.859G>A	22.37:g.42523970C>T	ENSP00000353820:p.Glu287Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2D-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.E287K	ENST00000360608.5	37	c.859	CCDS46721.1	22	.	.	.	.	.	.	.	.	.	.	C	13.79	2.341818	0.41498	.	.	ENSG00000100197	ENST00000360608;ENST00000389970;ENST00000413640;ENST00000359033;ENST00000542856	T;T;T	0.79141	-1.24;-1.24;5.05	4.45	0.882	0.19172	.	0.701324	0.14022	N	0.346743	T	0.68641	0.3023	L	0.52011	1.625	0.38093	D	0.93701	B;B	0.18013	0.025;0.007	B;B	0.26310	0.068;0.028	T	0.59595	-0.7425	9	.	.	.	.	7.3747	0.26821	0.0:0.7025:0.1378:0.1597	.	236;287	Q6NXU8;Q6NWU0	.;.	K	287;287;233;236;236	ENSP00000353820:E287K;ENSP00000374620:E287K;ENSP00000351927:E236K	.	E	-	1	0	CYP2D6	40853914	0.000000	0.05858	0.914000	0.36105	0.543000	0.35085	0.196000	0.17176	0.429000	0.26202	0.555000	0.69702	GAG	CYP2D6	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000100197		0.612	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CYP2D6	HGNC	protein_coding	OTTHUMT00000320525.1	43	0.00	0	C			42523970	42523970	-1	no_errors	ENST00000360608	ensembl	human	known	69_37n	missense	31	31.11	14	SNP	0.789	T
CYP39A1	51302	genome.wustl.edu	37	6	46609906	46609906	+	Missense_Mutation	SNP	G	G	A	rs573287838		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:46609906G>A	ENST00000275016.2	-	2	510	c.307C>T	c.(307-309)Cgt>Tgt	p.R103C		NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	103			R -> H (in dbSNP:rs2277119).		bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	24-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033782)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)|steroid 7-alpha-hydroxylase activity (GO:0008387)		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						TTACCTGTACGATAAACGATA	0.333													G|||	1	0.000199681	0.0	0.0	5008	,	,		18918	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													66.0	68.0	68.0					6																	46609906		2203	4296	6499	-	-	-	SO:0001583	missense	0			AF237982	CCDS4916.1, CCDS75465.1	6p21.1-p11.2	2008-02-05	2003-01-14		ENSG00000146233	ENSG00000146233		"""Cytochrome P450s"""	17449	protein-coding gene	gene with protein product		605994	"""cytochrome P450, subfamily XXXIX (oxysterol 7 alpha-hydroxylase), polypeptide 1"""			10748047	Standard	NM_016593		Approved		uc003oyf.1	Q9NYL5	OTTHUMG00000014785	ENST00000275016.2:c.307C>T	6.37:g.46609906G>A	ENSP00000275016:p.Arg103Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VTT0|Q96FW5	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I	p.R103C	ENST00000275016.2	37	c.307	CCDS4916.1	6	.	.	.	.	.	.	.	.	.	.	G	14.31	2.495798	0.44352	.	.	ENSG00000146233	ENST00000275016	T	0.69306	-0.39	4.7	0.594	0.17485	.	1.369710	0.04860	N	0.443911	T	0.51822	0.1697	L	0.34521	1.04	0.09310	N	1	D;D	0.89917	1.0;0.987	P;P	0.60345	0.873;0.713	T	0.42582	-0.9443	10	0.36615	T	0.2	3.4561	6.2891	0.21049	0.2338:0.0:0.6378:0.1284	.	103;103	B7Z786;Q9NYL5	.;CP39A_HUMAN	C	103	ENSP00000275016:R103C	ENSP00000275016:R103C	R	-	1	0	CYP39A1	46717865	0.014000	0.17966	0.000000	0.03702	0.011000	0.07611	1.289000	0.33307	0.166000	0.19597	-0.222000	0.12452	CGT	CYP39A1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000146233		0.333	CYP39A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP39A1	HGNC	protein_coding	OTTHUMT00000040787.1	86	0.00	0	G			46609906	46609906	-1	no_errors	ENST00000275016	ensembl	human	known	69_37n	missense	52	20.00	13	SNP	0.000	A
CYP4F2	8529	genome.wustl.edu	37	19	16000453	16000453	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:16000453G>C	ENST00000221700.6	-	7	793	c.698C>G	c.(697-699)tCa>tGa	p.S233*	CYP4F2_ENST00000011989.7_Nonsense_Mutation_p.S84*	NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2											NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GTGTCTTTTTGATACAAGGGC	0.507																																						dbGAP											0													126.0	126.0	126.0					19																	16000453		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"""Cytochrome P450s"""	2645	protein-coding gene	gene with protein product		604426	"""cytochrome P450, subfamily IVF, polypeptide 2"""			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.698C>G	19.37:g.16000453G>C	ENSP00000221700:p.Ser233*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_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.S233*	ENST00000221700.6	37	c.698	CCDS12336.1	19	.	.	.	.	.	.	.	.	.	.	g	20.6	4.009558	0.75046	.	.	ENSG00000186115	ENST00000221700;ENST00000392846;ENST00000011989	.	.	.	2.72	1.64	0.23874	.	0.538198	0.16168	U	0.226413	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	5.0359	0.14434	0.2968:0.0:0.7032:0.0	.	.	.	.	X	233;84;84	.	ENSP00000011989:S84X	S	-	2	0	CYP4F2	15861453	0.001000	0.12720	0.001000	0.08648	0.489000	0.33432	1.145000	0.31577	0.447000	0.26695	0.305000	0.20034	TCA	CYP4F2	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000186115		0.507	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4F2	HGNC	protein_coding	OTTHUMT00000460372.3	103	0.00	0	G	NM_001082		16000453	16000453	-1	no_errors	ENST00000221700	ensembl	human	known	69_37n	nonsense	69	26.60	25	SNP	0.004	C
CYP8B1	1582	genome.wustl.edu	37	3	42915919	42915919	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:42915919C>G	ENST00000316161.4	-	1	1714	c.1390G>C	c.(1390-1392)Gag>Cag	p.E464Q	RP11-141M3.5_ENST00000471537.1_RNA|KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Intron	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	464					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity (GO:0033778)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|sterol 12-alpha-hydroxylase activity (GO:0008397)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		TCCACCAACTCTAAGTCAAAG	0.577																																						dbGAP											0													96.0	83.0	88.0					3																	42915919		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF090318	CCDS2707.1	3p22.1	2004-02-27	2003-01-14		ENSG00000180432	ENSG00000180432		"""Cytochrome P450s"""	2653	protein-coding gene	gene with protein product		602172	"""cytochrome P450, subfamily VIIIB (sterol 12-alpha-hydroxylase), polypeptide 1"""			10051404	Standard	NM_004391		Approved	CYP12	uc003cmh.3	Q9UNU6	OTTHUMG00000133047	ENST00000316161.4:c.1390G>C	3.37:g.42915919C>G	ENSP00000318867:p.Glu464Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCY3|O75958|Q6NWT2|Q6NWT3	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I	p.E464Q	ENST00000316161.4	37	c.1390	CCDS2707.1	3	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432604	0.62844	.	.	ENSG00000180432	ENST00000316161	T	0.70986	-0.53	5.15	4.26	0.50523	.	0.086245	0.45126	U	0.000396	T	0.79610	0.4475	L	0.55213	1.73	0.41894	D	0.990382	D	0.76494	0.999	D	0.74023	0.982	T	0.80797	-0.1222	10	0.59425	D	0.04	-17.2779	13.007	0.58710	0.0:0.9186:0.0:0.0814	.	464	Q9UNU6	CP8B1_HUMAN	Q	464	ENSP00000318867:E464Q	ENSP00000318867:E464Q	E	-	1	0	CYP8B1	42890923	1.000000	0.71417	0.956000	0.39512	0.540000	0.34992	6.003000	0.70701	1.144000	0.42321	0.462000	0.41574	GAG	CYP8B1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000180432		0.577	CYP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP8B1	HGNC	protein_coding	OTTHUMT00000256653.1	54	0.00	0	C	NM_004391		42915919	42915919	-1	no_errors	ENST00000316161	ensembl	human	known	69_37n	missense	35	35.19	19	SNP	1.000	G
CYTH4	27128	genome.wustl.edu	37	22	37690715	37690715	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:37690715G>A	ENST00000248901.6	+	3	304	c.117G>A	c.(115-117)gaG>gaA	p.E39E	CYTH4_ENST00000439667.1_3'UTR|CYTH4_ENST00000402997.1_Silent_p.E39E|CYTH4_ENST00000405206.3_Silent_p.E39E	NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	39					positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						TGAAGGATGAGATTGCAGATG	0.602																																						dbGAP											0													135.0	120.0	125.0					22																	37690715		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF075458	CCDS13946.1	22q12.3-q13.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000100055	ENSG00000100055		"""Pleckstrin homology (PH) domain containing"""	9505	protein-coding gene	gene with protein product		606514	"""pleckstrin homology, Sec7 and coiled/coil domains 4"", ""pleckstrin homology, Sec7 and coiled-coil domains 4"""	PSCD4		10591208	Standard	NM_013385		Approved	CYT4, cytohesin-4	uc003arf.3	Q9UIA0	OTTHUMG00000150562	ENST00000248901.6:c.117G>A	22.37:g.37690715G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5R3F9|Q9UGT6	Silent	SNP	pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7	p.E39	ENST00000248901.6	37	c.117	CCDS13946.1	22																																																																																			CYTH4	-	NULL	ENSG00000100055		0.602	CYTH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYTH4	HGNC	protein_coding	OTTHUMT00000318917.1	84	0.00	0	G			37690715	37690715	+1	no_errors	ENST00000248901	ensembl	human	known	69_37n	silent	130	13.33	20	SNP	0.999	A
CYYR1	116159	genome.wustl.edu	37	21	27852724	27852724	+	Silent	SNP	A	A	C	rs966410	byFrequency	TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr21:27852724A>C	ENST00000299340.4	-	3	544	c.201T>G	c.(199-201)gtT>gtG	p.V67V	AP001597.1_ENST00000414486.1_RNA|CYYR1_ENST00000435845.2_3'UTR|AP001597.1_ENST00000357401.3_RNA|CYYR1_ENST00000400043.3_Silent_p.V67V	NM_052954.2	NP_443186.1	Q96J86	CYYR1_HUMAN	cysteine/tyrosine-rich 1	67						integral component of membrane (GO:0016021)				large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						CTATTCCAAAAACAATGCCCG	0.443																																						dbGAP											0													121.0	110.0	114.0					21																	27852724		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY061853	CCDS13578.1	21q21.2	2014-07-04	2005-07-24		ENSG00000166265	ENSG00000166265			16274	protein-coding gene	gene with protein product			"""cysteine and tyrosine-rich 1"""	C21orf95		12036297, 12062809, 24981926	Standard	NM_052954		Approved		uc002ymd.3	Q96J86	OTTHUMG00000078689	ENST00000299340.4:c.201T>G	21.37:g.27852724A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A0A059TD09|A8MTU9|B2R845|Q53ER3|Q5JPD0|Q96NV7|R9QAJ4|W8CQB3	Silent	SNP	pfam_CYYR1	p.V67	ENST00000299340.4	37	c.201	CCDS13578.1	21																																																																																			CYYR1	-	pfam_CYYR1	ENSG00000166265		0.443	CYYR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYYR1	HGNC	protein_coding	OTTHUMT00000171654.2	35	0.00	0	A	NM_052954		27852724	27852724	-1	no_errors	ENST00000299340	ensembl	human	known	69_37n	silent	14	37.66	29	SNP	0.997	C
DACH2	117154	genome.wustl.edu	37	X	85404026	85404026	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:85404026G>A	ENST00000373125.4	+	1	402	c.402G>A	c.(400-402)ctG>ctA	p.L134L	DACH2_ENST00000373131.1_Silent_p.L134L	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	134	DACHbox-N.				development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						TCCGCGGGCTGGGGGCCATCC	0.562																																						dbGAP											0													52.0	54.0	53.0					X																	85404026		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"""dachshund homolog 2 (Drosophila)"""				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.402G>A	X.37:g.85404026G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Silent	SNP	pfam_Transform_Ski,superfamily_DNA-bd_dom_put	p.L134	ENST00000373125.4	37	c.402	CCDS14455.1	X																																																																																			DACH2	-	pfam_Transform_Ski,superfamily_DNA-bd_dom_put	ENSG00000126733		0.562	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DACH2	HGNC	protein_coding	OTTHUMT00000359266.1	59	0.00	0	G	NM_053281		85404026	85404026	+1	no_errors	ENST00000373125	ensembl	human	known	69_37n	silent	66	17.50	14	SNP	1.000	A
DACH2	117154	genome.wustl.edu	37	X	85950093	85950093	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:85950093G>T	ENST00000373125.4	+	5	842	c.842G>T	c.(841-843)gGa>gTa	p.G281V	DACH2_ENST00000508860.1_Missense_Mutation_p.G114V|DACH2_ENST00000373131.1_Missense_Mutation_p.G268V|DACH2_ENST00000510272.1_Missense_Mutation_p.G62V	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	281					development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						CCCCAACATGGAATTGCTCAT	0.468																																						dbGAP											0													64.0	52.0	56.0					X																	85950093		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"""dachshund homolog 2 (Drosophila)"""				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.842G>T	X.37:g.85950093G>T	ENSP00000362217:p.Gly281Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	pfam_Transform_Ski,superfamily_DNA-bd_dom_put	p.G281V	ENST00000373125.4	37	c.842	CCDS14455.1	X	.	.	.	.	.	.	.	.	.	.	g	11.93	1.785026	0.31593	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000510272;ENST00000400297	D;D	0.82433	-1.61;-1.61	4.99	3.18	0.36537	.	0.179058	0.38164	N	0.001789	T	0.81143	0.4761	L	0.40543	1.245	0.49915	D	0.999838	D;P;P	0.56287	0.975;0.826;0.734	P;B;B	0.52424	0.698;0.274;0.218	T	0.78635	-0.2127	10	0.39692	T	0.17	.	10.6495	0.45640	0.1634:0.0:0.8366:0.0	.	147;268;281	Q1RMF5;Q96NX9-2;Q96NX9	.;.;DACH2_HUMAN	V	281;268;281;114;62;114	ENSP00000362223:G268V;ENSP00000362217:G281V	ENSP00000345134:G281V	G	+	2	0	DACH2	85836749	1.000000	0.71417	1.000000	0.80357	0.575000	0.36095	4.832000	0.62759	0.884000	0.36064	0.509000	0.49947	GGA	DACH2	-	NULL	ENSG00000126733		0.468	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DACH2	HGNC	protein_coding	OTTHUMT00000359266.1	68	0.00	0	G	NM_053281		85950093	85950093	+1	no_errors	ENST00000373125	ensembl	human	known	69_37n	missense	40	32.20	19	SNP	1.000	T
DAGLA	747	genome.wustl.edu	37	11	61511557	61511557	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:61511557C>T	ENST00000257215.5	+	20	2841	c.2725C>T	c.(2725-2727)Cag>Tag	p.Q909*	RP11-467L20.10_ENST00000536405.1_lincRNA	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	909					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GCCCAGTCCTCAGGTGCTGGA	0.657																																						dbGAP											0													49.0	44.0	46.0					11																	61511557		2202	4298	6500	-	-	-	SO:0001587	stop_gained	0			AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"""neural stem cell-derived dendrite regulator"""	614015	"""chromosome 11 open reading frame 11"""	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.2725C>T	11.37:g.61511557C>T	ENSP00000257215:p.Gln909*	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E233|Q6WQJ0	Nonsense_Mutation	SNP	pfam_Lipase_3	p.Q909*	ENST00000257215.5	37	c.2725	CCDS31578.1	11	.	.	.	.	.	.	.	.	.	.	C	36	5.680705	0.96774	.	.	ENSG00000134780	ENST00000257215	.	.	.	4.03	4.03	0.46877	.	0.199003	0.43747	D	0.000539	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-16.0138	16.5651	0.84577	0.0:1.0:0.0:0.0	.	.	.	.	X	909	.	ENSP00000257215:Q909X	Q	+	1	0	DAGLA	61268133	0.996000	0.38824	0.963000	0.40424	0.230000	0.25150	3.773000	0.55333	1.979000	0.57680	0.462000	0.41574	CAG	DAGLA	-	NULL	ENSG00000134780		0.657	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAGLA	HGNC	protein_coding	OTTHUMT00000398516.1	15	0.00	0	C	NM_006133		61511557	61511557	+1	no_errors	ENST00000257215	ensembl	human	known	69_37n	nonsense	12	33.33	6	SNP	0.989	T
DAGLB	221955	genome.wustl.edu	37	7	6474605	6474605	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:6474605C>T	ENST00000297056.6	-	4	635	c.466G>A	c.(466-468)Gac>Aac	p.D156N	DAGLB_ENST00000428902.2_Missense_Mutation_p.D29N|DAGLB_ENST00000421761.2_Intron|DAGLB_ENST00000479922.2_5'Flank|DAGLB_ENST00000436575.1_Missense_Mutation_p.D115N|DAGLB_ENST00000425398.2_Intron	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	156					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|lipid catabolic process (GO:0016042)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		CCAAGAGGGTCAAAGACAATG	0.542																																						dbGAP											0													82.0	83.0	83.0					7																	6474605		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF450090	CCDS5350.1, CCDS47536.1	7p22.1	2008-03-18			ENSG00000164535	ENSG00000164535	3.1.1.-		28923	protein-coding gene	gene with protein product		614016					Standard	NM_139179		Approved	KCCR13L, DAGLBETA	uc003sqa.3	Q8NCG7	OTTHUMG00000125513	ENST00000297056.6:c.466G>A	7.37:g.6474605C>T	ENSP00000297056:p.Asp156Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D2P3|B3KV90|B4DQU0|Q6PIX3|Q8N2N2|Q8N9S1|Q8TED3|Q8WXE6	Missense_Mutation	SNP	pfam_Lipase_3	p.D156N	ENST00000297056.6	37	c.466	CCDS5350.1	7	.	.	.	.	.	.	.	.	.	.	C	33	5.265073	0.95399	.	.	ENSG00000164535	ENST00000297056;ENST00000436575;ENST00000471132;ENST00000428902	T;T	0.54479	0.6;0.57	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.72518	0.3470	M	0.71296	2.17	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72027	-0.4414	10	0.41790	T	0.15	.	18.8696	0.92308	0.0:1.0:0.0:0.0	.	156	Q8NCG7	DGLB_HUMAN	N	156;115;156;29	ENSP00000297056:D156N;ENSP00000404785:D115N	ENSP00000297056:D156N	D	-	1	0	DAGLB	6441130	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.319000	0.79040	2.443000	0.82685	0.591000	0.81541	GAC	DAGLB	-	NULL	ENSG00000164535		0.542	DAGLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAGLB	HGNC	protein_coding	OTTHUMT00000246840.2	47	0.00	0	C	NM_139179		6474605	6474605	-1	no_errors	ENST00000297056	ensembl	human	known	69_37n	missense	62	17.33	13	SNP	1.000	T
DAK	26007	genome.wustl.edu	37	11	61113373	61113373	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:61113373G>C	ENST00000394900.3	+	17	1759	c.1530G>C	c.(1528-1530)aaG>aaC	p.K510N	CYB561A3_ENST00000540317.1_5'Flank	NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	510	DhaL. {ECO:0000255|PROSITE- ProRule:PRU00813}.				carbohydrate phosphorylation (GO:0046835)|cellular carbohydrate metabolic process (GO:0044262)|glycerol metabolic process (GO:0006071)|innate immune response (GO:0045087)|regulation of innate immune response (GO:0045088)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|FAD-AMP lyase (cyclizing) activity (GO:0034012)|glycerone kinase activity (GO:0004371)|metal ion binding (GO:0046872)|triokinase activity (GO:0050354)			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						AAGCCTGGAAGAGCCCAGGAG	0.617																																						dbGAP											0													64.0	65.0	65.0					11																	61113373		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS8003.1	11q12.2	2009-11-06	2006-04-04		ENSG00000149476	ENSG00000149476			24552	protein-coding gene	gene with protein product		615844	"""dihydroxyacetone kinase 2 homolog (yeast)"""				Standard	XM_005273898		Approved	DKFZP586B1621, NET45	uc001nre.3	Q3LXA3	OTTHUMG00000168076	ENST00000394900.3:c.1530G>C	11.37:g.61113373G>C	ENSP00000378360:p.Lys510Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2L9C1|Q53EQ9|Q9BVA7|Q9H895	Missense_Mutation	SNP	pfam_Dak1,pfam_Dak2,superfamily_Dak2,tigrfam_DhaK_ATP	p.K510N	ENST00000394900.3	37	c.1530	CCDS8003.1	11	.	.	.	.	.	.	.	.	.	.	G	14.78	2.638225	0.47153	.	.	ENSG00000149476	ENST00000394900;ENST00000529479	T;T	0.32753	1.44;1.48	5.91	4.02	0.46733	Dak phosphatase (3);	0.511045	0.23023	N	0.052836	T	0.14960	0.0361	N	0.11064	0.09	0.32486	N	0.540835	P;P	0.36392	0.551;0.475	B;B	0.35770	0.165;0.21	T	0.16394	-1.0404	10	0.17832	T	0.49	-18.7372	9.4607	0.38783	0.137:0.1256:0.7374:0.0	.	510;510	Q2L9C1;Q3LXA3	.;DHAK_HUMAN	N	510;509	ENSP00000378360:K510N;ENSP00000432539:K509N	ENSP00000378360:K510N	K	+	3	2	DAK	60869949	0.987000	0.35691	1.000000	0.80357	0.924000	0.55760	1.916000	0.39986	1.509000	0.48786	0.655000	0.94253	AAG	DAK	-	pfam_Dak2,superfamily_Dak2,tigrfam_DhaK_ATP	ENSG00000149476		0.617	DAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAK	HGNC	protein_coding	OTTHUMT00000394425.4	41	0.00	0	G	NM_015533		61113373	61113373	+1	no_errors	ENST00000394900	ensembl	human	known	69_37n	missense	56	30.86	25	SNP	0.994	C
DAPK1	1612	genome.wustl.edu	37	9	90311999	90311999	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:90311999G>A	ENST00000408954.3	+	22	2826	c.2491G>A	c.(2491-2493)Gat>Aat	p.D831N	DAPK1_ENST00000491893.1_Intron|DAPK1_ENST00000472284.1_Missense_Mutation_p.D831N|DAPK1_ENST00000469640.2_Missense_Mutation_p.D831N|DAPK1_ENST00000358077.5_Missense_Mutation_p.D831N	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	831					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						TGCTGCAAATGATCCCACGTC	0.418									Chronic Lymphocytic Leukemia, Familial Clustering of																													dbGAP											0													256.0	244.0	248.0					9																	90311999		1941	4157	6098	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Familial CLL	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.2491G>A	9.37:g.90311999G>A	ENSP00000386135:p.Asp831Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_Prot_kinase_cat_dom,prints_Ankyrin_rpt	p.D831N	ENST00000408954.3	37	c.2491	CCDS43842.1	9	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139361	0.77775	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954	T;T;T;T	0.16196	2.36;2.36;2.36;2.36	5.65	4.75	0.60458	.	0.000000	0.53938	D	0.000056	T	0.21186	0.0510	L	0.50333	1.59	0.58432	D	0.999999	P	0.40000	0.698	B	0.41036	0.346	T	0.01679	-1.1297	10	0.44086	T	0.13	.	15.8279	0.78727	0.0:0.0:0.8631:0.1369	.	831	P53355	DAPK1_HUMAN	N	831	ENSP00000350785:D831N;ENSP00000417076:D831N;ENSP00000418885:D831N;ENSP00000386135:D831N	ENSP00000350785:D831N	D	+	1	0	DAPK1	89501819	1.000000	0.71417	0.989000	0.46669	0.926000	0.56050	7.748000	0.85085	1.602000	0.50124	0.655000	0.94253	GAT	DAPK1	-	NULL	ENSG00000196730		0.418	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DAPK1	HGNC	protein_coding	OTTHUMT00000356843.1	220	0.00	0	G	NM_004938		90311999	90311999	+1	no_errors	ENST00000469640	ensembl	human	known	69_37n	missense	239	18.98	56	SNP	1.000	A
DAPP1	27071	genome.wustl.edu	37	4	100738135	100738135	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:100738135G>C	ENST00000512369.1	+	1	133	c.65G>C	c.(64-66)aGa>aCa	p.R22T	DAPP1_ENST00000296414.7_Missense_Mutation_p.R22T	NM_014395.2	NP_055210.2	Q9UN19	DAPP1_HUMAN	dual adaptor of phosphotyrosine and 3-phosphoinositides	22					protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(123;7.04e-09)		CTGTGGAGCAGATCCGATGGA	0.552																																						dbGAP											0													37.0	42.0	40.0					4																	100738135		2010	4176	6186	-	-	-	SO:0001583	missense	0			AF186022	CCDS47112.1	4q25-q27	2013-02-14			ENSG00000070190	ENSG00000070190		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	16500	protein-coding gene	gene with protein product		605768				10432293	Standard	NM_014395		Approved	BAM32	uc003hvf.4	Q9UN19	OTTHUMG00000160974	ENST00000512369.1:c.65G>C	4.37:g.100738135G>C	ENSP00000423602:p.Arg22Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TCK5|Q9UHF2	Missense_Mutation	SNP	pfam_SH2,pfam_Pleckstrin_homology,smart_SH2,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH2,prints_SH2	p.R22T	ENST00000512369.1	37	c.65	CCDS47112.1	4	.	.	.	.	.	.	.	.	.	.	G	11.23	1.576271	0.28092	.	.	ENSG00000070190	ENST00000296414;ENST00000512369	T;T	0.71461	-0.57;-0.5	4.21	3.35	0.38373	SH2 motif (1);	0.328915	0.27754	N	0.017982	T	0.48333	0.1494	N	0.14661	0.345	0.09310	N	1	B;B;B	0.27498	0.0;0.039;0.18	B;B;B	0.23018	0.0;0.043;0.035	T	0.27905	-1.0060	10	0.18710	T	0.47	-6.7885	10.0689	0.42322	0.0:0.2043:0.7957:0.0	.	22;22;22	B4DW38;Q9UN19-2;Q9UN19	.;.;DAPP1_HUMAN	T	22	ENSP00000296414:R22T;ENSP00000423602:R22T	ENSP00000296414:R22T	R	+	2	0	DAPP1	100957158	0.006000	0.16342	0.038000	0.18304	0.949000	0.60115	0.741000	0.26202	1.313000	0.45069	0.591000	0.81541	AGA	DAPP1	-	NULL	ENSG00000070190		0.552	DAPP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DAPP1	HGNC	protein_coding	OTTHUMT00000363215.1	29	0.00	0	G			100738135	100738135	+1	no_errors	ENST00000512369	ensembl	human	known	69_37n	missense	25	40.48	17	SNP	0.044	C
DAPP1	27071	genome.wustl.edu	37	4	100756830	100756830	+	Nonsense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:100756830C>G	ENST00000512369.1	+	2	220	c.152C>G	c.(151-153)tCa>tGa	p.S51*	DAPP1_ENST00000296414.7_Nonsense_Mutation_p.S51*	NM_014395.2	NP_055210.2	Q9UN19	DAPP1_HUMAN	dual adaptor of phosphotyrosine and 3-phosphoinositides	51	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(123;7.04e-09)		CTTCTCCTCTCAAATGGATGT	0.542																																						dbGAP											0													141.0	138.0	139.0					4																	100756830		2073	4208	6281	-	-	-	SO:0001587	stop_gained	0			AF186022	CCDS47112.1	4q25-q27	2013-02-14			ENSG00000070190	ENSG00000070190		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	16500	protein-coding gene	gene with protein product		605768				10432293	Standard	NM_014395		Approved	BAM32	uc003hvf.4	Q9UN19	OTTHUMG00000160974	ENST00000512369.1:c.152C>G	4.37:g.100756830C>G	ENSP00000423602:p.Ser51*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TCK5|Q9UHF2	Nonsense_Mutation	SNP	pfam_SH2,pfam_Pleckstrin_homology,smart_SH2,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH2,prints_SH2	p.S51*	ENST00000512369.1	37	c.152	CCDS47112.1	4	.	.	.	.	.	.	.	.	.	.	C	20.4	3.977259	0.74360	.	.	ENSG00000070190	ENST00000296414;ENST00000512369	.	.	.	5.9	5.9	0.94986	.	0.056781	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-0.5078	19.8893	0.96923	0.0:1.0:0.0:0.0	.	.	.	.	X	51	.	ENSP00000296414:S51X	S	+	2	0	DAPP1	100975853	1.000000	0.71417	0.958000	0.39756	0.038000	0.13279	5.294000	0.65687	2.788000	0.95919	0.650000	0.86243	TCA	DAPP1	-	pfam_SH2,smart_SH2,pfscan_SH2	ENSG00000070190		0.542	DAPP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DAPP1	HGNC	protein_coding	OTTHUMT00000363215.1	73	0.00	0	C			100756830	100756830	+1	no_errors	ENST00000512369	ensembl	human	known	69_37n	nonsense	55	25.68	19	SNP	1.000	G
DAZAP1	26528	genome.wustl.edu	37	19	1421163	1421163	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:1421163G>A	ENST00000233078.4	+	5	481	c.320G>A	c.(319-321)aGc>aAc	p.S107N	DAZAP1_ENST00000336761.6_Missense_Mutation_p.S107N|DAZAP1_ENST00000586579.1_3'UTR	NM_018959.2	NP_061832.2	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1	107					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|maternal placenta development (GO:0001893)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		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)|STAD - Stomach adenocarcinoma(1328;0.18)		GGACCCAGGAGCGATAACAGT	0.483																																						dbGAP											0													126.0	128.0	127.0					19																	1421163		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12065.1, CCDS12066.1	19p13.3	2013-07-16			ENSG00000071626	ENSG00000071626		"""RNA binding motif (RRM) containing"""	2683	protein-coding gene	gene with protein product	"""deleted in azoospermia associated protein 1"""	607430				10857750, 23658607	Standard	XM_005259530		Approved	MGC19907	uc002lsn.3	Q96EP5		ENST00000233078.4:c.320G>A	19.37:g.1421163G>A	ENSP00000233078:p.Ser107Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96MJ3|Q9NRR9	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S107N	ENST00000233078.4	37	c.320	CCDS12065.1	19	.	.	.	.	.	.	.	.	.	.	G	6.272	0.418388	0.11870	.	.	ENSG00000071626	ENST00000233078;ENST00000336761	D;D	0.88509	-2.39;-2.39	4.75	3.71	0.42584	Nucleotide-binding, alpha-beta plait (1);	0.189579	0.56097	N	0.000038	T	0.75413	0.3846	N	0.08118	0	0.42075	D	0.991222	B;B	0.20368	0.044;0.038	B;B	0.18871	0.009;0.023	T	0.68232	-0.5463	10	0.38643	T	0.18	.	7.9559	0.30042	0.0867:0.1606:0.7526:0.0	.	107;107	Q96EP5;Q96EP5-2	DAZP1_HUMAN;.	N	107	ENSP00000233078:S107N;ENSP00000337132:S107N	ENSP00000233078:S107N	S	+	2	0	DAZAP1	1372163	1.000000	0.71417	0.997000	0.53966	0.512000	0.34134	4.763000	0.62257	0.995000	0.38917	0.561000	0.74099	AGC	DAZAP1	-	NULL	ENSG00000071626		0.483	DAZAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAZAP1	HGNC	protein_coding	OTTHUMT00000449522.3	68	0.00	0	G	NM_170711		1421163	1421163	+1	no_errors	ENST00000233078	ensembl	human	known	69_37n	missense	56	22.22	16	SNP	0.993	A
DBNL	28988	genome.wustl.edu	37	7	44099153	44099153	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:44099153G>A	ENST00000448521.1	+	11	1041	c.943G>A	c.(943-945)Gag>Aag	p.E315K	DBNL_ENST00000468694.1_Missense_Mutation_p.E324K|DBNL_ENST00000456905.1_Missense_Mutation_p.E267K|DBNL_ENST00000497184.1_3'UTR|DBNL_ENST00000494774.1_Missense_Mutation_p.E316K|DBNL_ENST00000440166.1_Missense_Mutation_p.E212K|DBNL_ENST00000452943.1_Missense_Mutation_p.E291K|DBNL_ENST00000490734.2_Missense_Mutation_p.E221K	NM_001014436.2	NP_001014436.1	Q9UJU6	DBNL_HUMAN	drebrin-like	315					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						TCTCCCTGCTGAGGAGCCGGC	0.632																																					NSCLC(68;573 1327 18604 34760 37992)	dbGAP											0													30.0	30.0	30.0					7																	44099153		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.943G>A	7.37:g.44099153G>A	ENSP00000411701:p.Glu315Lys	Somatic		WXS	Illumina GAIIx	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.E324K	ENST00000448521.1	37	c.970	CCDS34623.1	7	.	.	.	.	.	.	.	.	.	.	G	6.457	0.452395	0.12283	.	.	ENSG00000136279	ENST00000448521;ENST00000456905;ENST00000440166;ENST00000452943;ENST00000468694;ENST00000494774;ENST00000490734;ENST00000539475	T;T;T;T;T;T;T	0.33438	1.78;2.08;2.08;2.1;1.41;1.8;2.1	5.62	3.68	0.42216	Src homology-3 domain (1);	23.944300	0.00166	N	0.000000	T	0.34424	0.0897	L	0.60455	1.87	0.09310	N	0.999999	B;B;B;B;B;B;B;B;B	0.14438	0.003;0.007;0.004;0.009;0.01;0.004;0.004;0.001;0.004	B;B;B;B;B;B;B;B;B	0.13407	0.002;0.004;0.004;0.004;0.009;0.003;0.006;0.003;0.006	T	0.19844	-1.0293	10	0.31617	T	0.26	.	7.7039	0.28638	0.0973:0.1577:0.745:0.0	.	212;264;245;267;221;291;324;315;316	B4DEM2;B4DXL9;B4DDU5;B4DDP6;C9J7P1;B4DDD6;Q9UJU6-3;Q9UJU6;Q9UJU6-2	.;.;.;.;.;.;.;DBNL_HUMAN;.	K	315;267;212;291;324;316;221;245	ENSP00000411701:E315K;ENSP00000416421:E267K;ENSP00000415173:E212K;ENSP00000405343:E291K;ENSP00000417653:E324K;ENSP00000419992:E316K;ENSP00000417749:E221K	ENSP00000415173:E212K	E	+	1	0	DBNL	44065678	0.225000	0.23685	0.420000	0.26596	0.280000	0.26924	1.115000	0.31209	0.626000	0.30322	0.650000	0.86243	GAG	DBNL	-	superfamily_SH3_domain	ENSG00000136279		0.632	DBNL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DBNL	HGNC	protein_coding	OTTHUMT00000339572.2	42	0.00	0	G	NM_014063		44099153	44099153	+1	no_errors	ENST00000468694	ensembl	human	known	69_37n	missense	35	14.63	6	SNP	0.093	A
DCAF11	80344	genome.wustl.edu	37	14	24588993	24588993	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:24588993G>C	ENST00000446197.3	+	11	1707	c.980G>C	c.(979-981)gGa>gCa	p.G327A	DCAF11_ENST00000396936.1_Missense_Mutation_p.G227A|DCAF11_ENST00000396941.4_Missense_Mutation_p.G301A|DCAF11_ENST00000559115.1_Missense_Mutation_p.G327A|RP11-468E2.6_ENST00000558325.1_5'Flank	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	327					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)											TTCTCTGGGGGAGATGATGCC	0.537																																						dbGAP											0													103.0	90.0	94.0					14																	24588993		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF130070	CCDS9610.1, CCDS41929.1	14q11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000100897	ENSG00000100897		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20258	protein-coding gene	gene with protein product		613317	"""WD repeat domain 23"""	WDR23			Standard	NM_025230		Approved	PRO2389, GL014	uc001wlv.3	Q8TEB1	OTTHUMG00000028793	ENST00000446197.3:c.980G>C	14.37:g.24588993G>C	ENSP00000415556:p.Gly327Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQ83|D3DS56|Q5D039|Q86U00|Q86U39|Q8NDN2|Q9H2J0|Q9H3A3|Q9H5C9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p23,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.G327A	ENST00000446197.3	37	c.980	CCDS9610.1	14	.	.	.	.	.	.	.	.	.	.	g	18.90	3.722350	0.68959	.	.	ENSG00000100897	ENST00000326009;ENST00000446197;ENST00000396936;ENST00000396941	T;T	0.62788	-0.0;-0.0	5.97	5.97	0.96955	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.045925	0.85682	D	0.000000	T	0.69196	0.3084	L	0.56124	1.755	0.58432	D	0.999999	P;P;B;P;P	0.51449	0.819;0.791;0.184;0.945;0.825	P;B;B;P;P	0.51582	0.654;0.337;0.249;0.674;0.468	T	0.68800	-0.5313	10	0.51188	T	0.08	-0.0277	17.9218	0.88969	0.0:0.0:1.0:0.0	.	250;301;227;327;327	Q59GN6;Q8TEB1-2;Q8TEB1-3;A8K9T2;Q8TEB1	.;.;.;.;DCA11_HUMAN	A	327;301;227;301	ENSP00000380142:G227A;ENSP00000380146:G301A	ENSP00000323680:G327A	G	+	2	0	DCAF11	23658833	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	8.296000	0.89940	2.837000	0.97791	0.655000	0.94253	GGA	DCAF11	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p23,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	ENSG00000100897		0.537	DCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF11	HGNC	protein_coding	OTTHUMT00000071907.4	93	0.00	0	G			24588993	24588993	+1	no_errors	ENST00000446197	ensembl	human	known	69_37n	missense	82	19.61	20	SNP	1.000	C
DCAF4L1	285429	genome.wustl.edu	37	4	41983923	41983923	+	Silent	SNP	C	C	T	rs560376330		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:41983923C>T	ENST00000333141.5	+	1	211	c.114C>T	c.(112-114)aaC>aaT	p.N38N		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	38										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						GTTTCCTCAACGTCACCAGTT	0.532													C|||	1	0.000199681	0.0	0.0	5008	,	,		22283	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													142.0	125.0	131.0					4																	41983923		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC035027	CCDS33978.1	4p13	2013-01-09	2009-07-17	2009-07-17		ENSG00000182308		"""WD repeat domain containing"""	27723	protein-coding gene	gene with protein product			"""WD repeat domain 21B"""	WDR21B			Standard	NM_001029955		Approved		uc003gwk.2	Q3SXM0		ENST00000333141.5:c.114C>T	4.37:g.41983923C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVI3|Q3ZCW8|Q499Y5|Q9UFI0	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.N38	ENST00000333141.5	37	c.114	CCDS33978.1	4																																																																																			DCAF4L1	-	superfamily_WD40_repeat_dom	ENSG00000182308		0.532	DCAF4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF4L1	HGNC	protein_coding	OTTHUMT00000360958.1	88	0.00	0	C	NM_001029955		41983923	41983923	+1	no_errors	ENST00000333141	ensembl	human	known	69_37n	silent	59	16.90	12	SNP	0.517	T
DCAF8	50717	genome.wustl.edu	37	1	160213762	160213762	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:160213762C>G	ENST00000368073.3	-	3	471	c.37G>C	c.(37-39)Gac>Cac	p.D13H	DCAF8_ENST00000608310.1_Missense_Mutation_p.D167H|DCAF8_ENST00000475733.1_Missense_Mutation_p.D13H|DCAF8_ENST00000610139.1_Missense_Mutation_p.D13H|DCAF8_ENST00000368074.1_Missense_Mutation_p.D13H|DCAF8_ENST00000326837.2_Missense_Mutation_p.D13H|DCAF8_ENST00000556710.1_Missense_Mutation_p.D167H			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	13					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						TTAGCTAAGTCTGTTCTGCCA	0.458																																						dbGAP											0													317.0	263.0	281.0					1																	160213762		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK093176	CCDS1200.1	1q22-q23	2013-01-09	2009-07-17	2009-07-17	ENSG00000132716	ENSG00000132716		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	24891	protein-coding gene	gene with protein product		615820	"""WD repeat domain 42A"""	WDR42A		11401431	Standard	NM_015726		Approved	H326, FLJ35857	uc010pjb.1	Q5TAQ9	OTTHUMG00000031604	ENST00000368073.3:c.37G>C	1.37:g.160213762C>G	ENSP00000357052:p.Asp13His	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DVE6|Q12839|Q4QQI6|Q53F14|Q66K50|Q68CS7|Q96E00	Missense_Mutation	SNP	pfam_Pex19,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D167H	ENST00000368073.3	37	c.499	CCDS1200.1	1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.239786	0.79912	.	.	ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000258465	ENST00000368073;ENST00000326837;ENST00000368074;ENST00000555195;ENST00000540855;ENST00000447377;ENST00000440682;ENST00000407642;ENST00000419626;ENST00000556710	T;T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.39;-0.39	5.48	5.48	0.80851	.	0.000000	0.64402	U	0.000015	T	0.77445	0.4131	L	0.46157	1.445	0.51767	D	0.999935	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.987	T	0.79557	-0.1754	10	0.87932	D	0	.	18.1428	0.89646	0.0:1.0:0.0:0.0	.	167;13;13	G3V3G9;Q5TAQ9-2;Q5TAQ9	.;.;DCAF8_HUMAN	H	13;13;13;167;13;13;13;13;13;167	ENSP00000357052:D13H;ENSP00000318227:D13H;ENSP00000357053:D13H;ENSP00000451989:D167H;ENSP00000451235:D167H	ENSP00000318227:D13H	D	-	1	0	RP11-574F21.3;DCAF8	158480386	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.825000	0.62708	2.575000	0.86900	0.655000	0.94253	GAC	DCAF8	-	NULL	ENSG00000132716		0.458	DCAF8-001	KNOWN	basic|CCDS	protein_coding	DCAF8	HGNC	protein_coding	OTTHUMT00000077402.2	180	0.00	0	C	NM_015726		160213762	160213762	-1	no_errors	ENST00000555195	ensembl	human	known	69_37n	missense	175	21.17	47	SNP	1.000	G
DCC	1630	genome.wustl.edu	37	18	50918123	50918123	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr18:50918123G>A	ENST00000442544.2	+	17	3170	c.2554G>A	c.(2554-2556)Gct>Act	p.A852T	DCC_ENST00000581580.1_Missense_Mutation_p.A487T|DCC_ENST00000412726.1_Missense_Mutation_p.A680T	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	852	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AGGTGTACAGGCTGTGGCTCT	0.537																																						dbGAP											0													147.0	134.0	138.0					18																	50918123		2203	4300	6503	-	-	-	SO:0001583	missense	0			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.2554G>A	18.37:g.50918123G>A	ENSP00000389140:p.Ala852Thr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.A852T	ENST00000442544.2	37	c.2554	CCDS11952.1	18	.	.	.	.	.	.	.	.	.	.	G	16.69	3.193693	0.58017	.	.	ENSG00000187323	ENST00000442544;ENST00000412726	T;T	0.60299	0.2;0.2	5.37	5.37	0.77165	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.75302	0.3831	M	0.83603	2.65	0.80722	D	1	P;P;D	0.71674	0.789;0.789;0.998	P;P;D	0.66497	0.683;0.683;0.944	T	0.72401	-0.4305	10	0.15066	T	0.55	.	17.8905	0.88870	0.0:0.0:1.0:0.0	.	680;680;852	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	T	852;680	ENSP00000389140:A852T;ENSP00000397322:A680T	ENSP00000397322:A680T	A	+	1	0	DCC	49172121	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.682000	0.98655	2.506000	0.84524	0.557000	0.71058	GCT	DCC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000187323		0.537	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	HGNC	protein_coding	OTTHUMT00000255996.3	72	0.00	0	G	NM_005215		50918123	50918123	+1	no_errors	ENST00000442544	ensembl	human	known	69_37n	missense	32	34.69	17	SNP	1.000	A
DCDC2	51473	genome.wustl.edu	37	6	24205386	24205386	+	Intron	SNP	G	G	A	rs559070275		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:24205386G>A	ENST00000378454.3	-	8	1224				DCDC2_ENST00000378450.3_Silent_p.F42F	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2						cellular defense response (GO:0006968)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|neuron migration (GO:0001764)|visual learning (GO:0008542)					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				TCGTGTGGCTGAATGCTGGAA	0.408													G|||	1	0.000199681	0.0	0.0	5008	,	,		20938	0.0		0.001	False		,,,				2504	0.0					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AB032980	CCDS4550.1	6p22.1	2008-02-05			ENSG00000146038	ENSG00000146038			18141	protein-coding gene	gene with protein product		605755				10601354, 10574461	Standard	NM_001195610		Approved	RU2, KIAA1154, DCDC2A	uc003ndx.3	Q9UHG0	OTTHUMG00000016275	ENST00000378454.3:c.923-56C>T	6.37:g.24205386G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VTR8|Q5VTR9|Q86W35|Q9UFD1|Q9UHG1|Q9ULR6	Silent	SNP	NULL	p.F42	ENST00000378454.3	37	c.126	CCDS4550.1	6																																																																																			DCDC2	-	NULL	ENSG00000146038		0.408	DCDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCDC2	HGNC	protein_coding	OTTHUMT00000043604.1	102	0.97	1	G	NM_016356		24205386	24205386	-1	no_errors	ENST00000378450	ensembl	human	known	69_37n	silent	79	26.85	29	SNP	0.000	A
DCDC2B	149069	genome.wustl.edu	37	1	32680469	32680469	+	Missense_Mutation	SNP	C	C	G	rs71646366		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:32680469C>G	ENST00000409358.1	+	7	786	c.786C>G	c.(784-786)ttC>ttG	p.F262L	TMEM234_ENST00000485689.1_5'Flank	NM_001099434.1	NP_001092904.1	A2VCK2	DCD2B_HUMAN	doublecortin domain containing 2B	262					intracellular signal transduction (GO:0035556)					breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CATCTGCTTTCTATGCCAGAC	0.592																																						dbGAP											0													89.0	89.0	89.0					1																	32680469		1970	4142	6112	-	-	-	SO:0001583	missense	0			BC128073	CCDS44100.1	1p35.1	2008-05-13			ENSG00000222046	ENSG00000222046			32576	protein-coding gene	gene with protein product							Standard	NM_001099434		Approved		uc001bun.2	A2VCK2	OTTHUMG00000005741	ENST00000409358.1:c.786C>G	1.37:g.32680469C>G	ENSP00000386870:p.Phe262Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZBC6	Missense_Mutation	SNP	pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.F262L	ENST00000409358.1	37	c.786	CCDS44100.1	1	.	.	.	.	.	.	.	.	.	.	c	5.427	0.263975	0.10294	.	.	ENSG00000222046	ENST00000409358	T	0.35605	1.3	3.97	0.982	0.19762	.	.	.	.	.	T	0.28863	0.0716	M	0.64997	1.995	0.39929	D	0.974262	B	0.25441	0.126	B	0.28139	0.086	T	0.07046	-1.0793	9	0.10636	T	0.68	.	6.0945	0.20013	0.0:0.6526:0.0:0.3474	.	262	A2VCK2	DCD2B_HUMAN	L	262	ENSP00000386870:F262L	ENSP00000386870:F262L	F	+	3	2	DCDC2B	32453056	0.001000	0.12720	0.630000	0.29268	0.010000	0.07245	-0.304000	0.08199	0.231000	0.21079	-0.119000	0.15052	TTC	DCDC2B	-	NULL	ENSG00000222046		0.592	DCDC2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DCDC2B	HGNC	protein_coding	OTTHUMT00000328293.1	51	0.00	0	C	XM_940631		32680469	32680469	+1	no_errors	ENST00000409358	ensembl	human	known	69_37n	missense	64	20.00	16	SNP	0.730	G
DCK	1633	genome.wustl.edu	37	4	71888182	71888182	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:71888182C>G	ENST00000286648.5	+	3	703	c.306C>G	c.(304-306)ctC>ctG	p.L102L	DCK_ENST00000504730.1_Silent_p.L102L|DCK_ENST00000504952.1_Silent_p.L102L	NM_000788.2	NP_000779.1	P27707	DCK_HUMAN	deoxycytidine kinase	102					deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|deoxycytidine kinase activity (GO:0004137)|drug binding (GO:0008144)|nucleoside kinase activity (GO:0019206)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)	9			Lung(101;0.235)		Cladribine(DB00242)|Clofarabine(DB00631)|Cytarabine(DB00987)|Decitabine(DB01262)|Emtricitabine(DB00879)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Lamivudine(DB00709)|Nelarabine(DB01280)|Pemetrexed(DB00642)|Zalcitabine(DB00943)	ATGCCTGTCTCAGTCGAATAA	0.403																																						dbGAP											0													125.0	123.0	124.0					4																	71888182		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M60527	CCDS3548.1	4q13.3-q21.1	2008-02-05			ENSG00000156136	ENSG00000156136	2.7.1.74		2704	protein-coding gene	gene with protein product		125450				8406512	Standard	NM_000788		Approved		uc003hfx.3	P27707	OTTHUMG00000129908	ENST00000286648.5:c.306C>G	4.37:g.71888182C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8V6|Q5TZY7|Q6FI11	Silent	SNP	pfam_Deoxynucleoside_kinase	p.L102	ENST00000286648.5	37	c.306	CCDS3548.1	4																																																																																			DCK	-	pfam_Deoxynucleoside_kinase	ENSG00000156136		0.403	DCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCK	HGNC	protein_coding	OTTHUMT00000252159.2	99	0.00	0	C			71888182	71888182	+1	no_errors	ENST00000286648	ensembl	human	known	69_37n	silent	78	25.71	27	SNP	1.000	G
DCLK2	166614	genome.wustl.edu	37	4	151000411	151000411	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:151000411C>T	ENST00000296550.7	+	1	986	c.232C>T	c.(232-234)Cgg>Tgg	p.R78W	DCLK2_ENST00000302176.8_Missense_Mutation_p.R78W|DCLK2_ENST00000506325.1_Missense_Mutation_p.R78W	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	78	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					GCGCTTCTACCGGAACGGGGA	0.647																																					GBM(195;186 2215 13375 16801 37459)	dbGAP											0													30.0	35.0	33.0					4																	151000411		2202	4299	6501	-	-	-	SO:0001583	missense	0			BC032726	CCDS34076.1, CCDS47142.1, CCDS47142.2	4q31.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000170390	ENSG00000170390			19002	protein-coding gene	gene with protein product		613166	"""doublecortin and CaM kinase-like 2"""	DCAMKL2		12477932	Standard	NM_001040260		Approved	MGC45428, DCDC3, DCDC3B, DCK2	uc003ilo.4	Q8N568	OTTHUMG00000161444	ENST00000296550.7:c.232C>T	4.37:g.151000411C>T	ENSP00000296550:p.Arg78Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	C9J5Q9|Q59GC8|Q8N399	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_cat_dom	p.R78W	ENST00000296550.7	37	c.232	CCDS34076.1	4	.	.	.	.	.	.	.	.	.	.	C	25.7	4.661205	0.88154	.	.	ENSG00000170390	ENST00000296550;ENST00000506325;ENST00000302176	D;D;D	0.94862	-3.54;-3.54;-3.54	4.26	2.49	0.30216	Doublecortin domain (4);	0.121727	0.56097	D	0.000028	D	0.97917	0.9315	H	0.96333	3.805	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.994;0.99;1.0	D	0.98190	1.0462	10	0.87932	D	0	.	13.1608	0.59542	0.2891:0.7109:0.0:0.0	.	78;78;78	Q8N568-3;Q8N568-2;Q8N568	.;.;DCLK2_HUMAN	W	78	ENSP00000296550:R78W;ENSP00000427235:R78W;ENSP00000303887:R78W	ENSP00000296550:R78W	R	+	1	2	DCLK2	151219861	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.679000	0.46909	0.509000	0.28195	0.563000	0.77884	CGG	DCLK2	-	superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	ENSG00000170390		0.647	DCLK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DCLK2	HGNC	protein_coding	OTTHUMT00000364952.1	29	0.00	0	C	NM_001040260		151000411	151000411	+1	no_errors	ENST00000302176	ensembl	human	known	69_37n	missense	30	21.05	8	SNP	1.000	T
DCLK2	166614	genome.wustl.edu	37	4	151169478	151169478	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:151169478C>T	ENST00000296550.7	+	14	2651	c.1897C>T	c.(1897-1899)Cag>Tag	p.Q633*	DCLK2_ENST00000302176.8_Nonsense_Mutation_p.Q650*|DCLK2_ENST00000506325.1_Nonsense_Mutation_p.Q632*	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	633	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TCAAATGCTTCAGGTAAATGT	0.458																																					GBM(195;186 2215 13375 16801 37459)	dbGAP											0													106.0	101.0	103.0					4																	151169478		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC032726	CCDS34076.1, CCDS47142.1, CCDS47142.2	4q31.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000170390	ENSG00000170390			19002	protein-coding gene	gene with protein product		613166	"""doublecortin and CaM kinase-like 2"""	DCAMKL2		12477932	Standard	NM_001040260		Approved	MGC45428, DCDC3, DCDC3B, DCK2	uc003ilo.4	Q8N568	OTTHUMG00000161444	ENST00000296550.7:c.1897C>T	4.37:g.151169478C>T	ENSP00000296550:p.Gln633*	Somatic		WXS	Illumina GAIIx	Phase_IV	C9J5Q9|Q59GC8|Q8N399	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_cat_dom	p.Q650*	ENST00000296550.7	37	c.1948	CCDS34076.1	4	.	.	.	.	.	.	.	.	.	.	C	38	6.907277	0.97924	.	.	ENSG00000170390	ENST00000296550;ENST00000506325;ENST00000302176	.	.	.	6.17	6.17	0.99709	.	0.050531	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	633;632;650	.	ENSP00000296550:Q633X	Q	+	1	0	DCLK2	151388928	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.451000	0.60047	2.941000	0.99782	0.655000	0.94253	CAG	DCLK2	-	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	ENSG00000170390		0.458	DCLK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DCLK2	HGNC	protein_coding	OTTHUMT00000364952.1	107	0.00	0	C	NM_001040260		151169478	151169478	+1	no_errors	ENST00000302176	ensembl	human	known	69_37n	nonsense	74	22.11	21	SNP	1.000	T
DCHS2	54798	genome.wustl.edu	37	4	155241942	155241942	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:155241942C>G	ENST00000357232.4	-	14	3243	c.3244G>C	c.(3244-3246)Gat>Cat	p.D1082H		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1082	Cadherin 9. {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)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CTGCCGTCATCATCTTTGGCA	0.443																																						dbGAP											0													234.0	251.0	245.0					4																	155241942		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.3244G>C	4.37:g.155241942C>G	ENSP00000349768:p.Asp1082His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.D1082H	ENST00000357232.4	37	c.3244	CCDS3785.1	4	.	.	.	.	.	.	.	.	.	.	C	10.45	1.354875	0.24512	.	.	ENSG00000197410	ENST00000357232	T	0.60797	0.16	5.69	5.69	0.88448	Cadherin (4);Cadherin-like (1);	0.267139	0.32563	N	0.005925	T	0.39835	0.1093	N	0.11364	0.135	0.80722	D	1	B	0.33826	0.427	B	0.37422	0.249	T	0.32134	-0.9918	10	0.20519	T	0.43	.	13.0668	0.59038	0.0:0.9268:0.0:0.0732	.	1082	Q6V1P9	PCD23_HUMAN	H	1082	ENSP00000349768:D1082H	ENSP00000349768:D1082H	D	-	1	0	DCHS2	155461392	0.977000	0.34250	0.857000	0.33713	0.241000	0.25554	4.659000	0.61504	2.683000	0.91414	0.563000	0.77884	GAT	DCHS2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000197410		0.443	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365281.2	210	0.00	0	C	NM_001142552		155241942	155241942	-1	no_errors	ENST00000357232	ensembl	human	known	69_37n	missense	136	28.65	55	SNP	0.990	G
DCLRE1A	9937	genome.wustl.edu	37	10	115610362	115610362	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:115610362G>A	ENST00000361384.2	-	2	1419	c.502C>T	c.(502-504)Cat>Tat	p.H168Y	DCLRE1A_ENST00000476112.1_5'Flank|DCLRE1A_ENST00000369305.1_Missense_Mutation_p.H168Y	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	168	Nuclear localization region.				mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		CTCTTGTAATGAAAAGGAATG	0.418								Other identified genes with known or suspected DNA repair function																														dbGAP											0													48.0	47.0	48.0					10																	115610362		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS7584.1	10q25.1	2010-06-24	2010-06-24		ENSG00000198924	ENSG00000198924			17660	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	609682	"""DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae)"""			9806498, 17804464	Standard	NM_014881		Approved	SNM1, PSO2, KIAA0086, hSNM1	uc031pxf.1	Q6PJP8	OTTHUMG00000019077	ENST00000361384.2:c.502C>T	10.37:g.115610362G>A	ENSP00000355185:p.His168Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Missense_Mutation	SNP	pfam_DRMBL	p.H168Y	ENST00000361384.2	37	c.502	CCDS7584.1	10	.	.	.	.	.	.	.	.	.	.	G	29.6	5.020944	0.93462	.	.	ENSG00000198924	ENST00000361384;ENST00000369305	D;D	0.85702	-2.02;-2.02	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.92954	0.7758	M	0.80183	2.485	0.58432	D	0.999997	D	0.89917	1.0	D	0.85130	0.997	D	0.93052	0.6466	10	0.87932	D	0	-26.9639	18.7558	0.91832	0.0:0.0:1.0:0.0	.	168	Q6PJP8	DCR1A_HUMAN	Y	168	ENSP00000355185:H168Y;ENSP00000358311:H168Y	ENSP00000355185:H168Y	H	-	1	0	DCLRE1A	115600352	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	9.434000	0.97515	2.868000	0.98415	0.557000	0.71058	CAT	DCLRE1A	-	NULL	ENSG00000198924		0.418	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLRE1A	HGNC	protein_coding	OTTHUMT00000050444.1	33	0.00	0	G	NM_014881		115610362	115610362	-1	no_errors	ENST00000361384	ensembl	human	known	69_37n	missense	12	25.00	4	SNP	1.000	A
DCN	1634	genome.wustl.edu	37	12	91540003	91540003	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:91540003G>C	ENST00000052754.5	-	8	1413	c.912C>G	c.(910-912)atC>atG	p.I304M	DCN_ENST00000441303.2_Missense_Mutation_p.I117M|DCN_ENST00000552962.1_Missense_Mutation_p.I304M|DCN_ENST00000547568.2_Missense_Mutation_p.I157M|DCN_ENST00000228329.5_Missense_Mutation_p.I195M|DCN_ENST00000425043.1_Missense_Mutation_p.I157M|DCN_ENST00000420120.2_Missense_Mutation_p.I195M|DCN_ENST00000393155.1_Missense_Mutation_p.I304M|DCN_ENST00000303320.3_Missense_Mutation_p.I117M	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	304					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|kidney development (GO:0001822)|organ morphogenesis (GO:0009887)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|placenta development (GO:0001890)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|skeletal muscle tissue development (GO:0007519)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	collagen type VI trimer (GO:0005589)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						CAACTACAGAGATATTGTTGT	0.393																																						dbGAP											0													109.0	100.0	103.0					12																	91540003		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF138300	CCDS9039.1, CCDS9040.1, CCDS9041.1, CCDS9042.1, CCDS44951.1	12q21.33	2014-04-16			ENSG00000011465	ENSG00000011465		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	2705	protein-coding gene	gene with protein product	"""decorin proteoglycan"""	125255				8432526	Standard	NM_133507		Approved	DSPG2, SLRR1B	uc001tbt.3	P07585	OTTHUMG00000169998	ENST00000052754.5:c.912C>G	12.37:g.91540003G>C	ENSP00000052754:p.Ile304Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9P0Z0|Q9P0Z1|Q9Y5N8|Q9Y5N9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan	p.I304M	ENST00000052754.5	37	c.912	CCDS9039.1	12	.	.	.	.	.	.	.	.	.	.	G	17.59	3.428263	0.62844	.	.	ENSG00000011465	ENST00000052754;ENST00000228329;ENST00000303320;ENST00000393155;ENST00000425043;ENST00000552962;ENST00000420120;ENST00000441303;ENST00000547568;ENST00000546391	T;T;T;T;T;T;T;T;T;T	0.63255	3.41;3.41;-0.03;3.41;4.0;3.41;3.41;-0.03;4.0;4.0	5.97	0.215	0.15253	.	0.094522	0.64402	D	0.000001	T	0.72120	0.3421	M	0.83953	2.67	0.52501	D	0.999957	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.989;0.999;0.997	T	0.68051	-0.5511	10	0.87932	D	0	.	0.6618	0.00844	0.4175:0.1781:0.2254:0.1791	.	304;117;157;195	P07585;P07585-4;P07585-3;P07585-2	PGS2_HUMAN;.;.;.	M	304;195;117;304;157;304;195;117;157;157	ENSP00000052754:I304M;ENSP00000228329:I195M;ENSP00000302031:I117M;ENSP00000376862:I304M;ENSP00000401021:I157M;ENSP00000447654:I304M;ENSP00000413723:I195M;ENSP00000399815:I117M;ENSP00000447674:I157M;ENSP00000446530:I157M	ENSP00000052754:I304M	I	-	3	3	DCN	90064134	0.990000	0.36364	0.908000	0.35775	0.995000	0.86356	0.771000	0.26633	0.110000	0.17919	0.655000	0.94253	ATC	DCN	-	pirsf_SLRP_I_decor/aspor/byglycan	ENSG00000011465		0.393	DCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCN	HGNC	protein_coding	OTTHUMT00000406799.3	76	0.00	0	G	NM_133507		91540003	91540003	-1	no_errors	ENST00000052754	ensembl	human	known	69_37n	missense	76	21.65	21	SNP	0.998	C
DCPS	28960	genome.wustl.edu	37	11	126201380	126201380	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:126201380G>C	ENST00000263579.4	+	3	786	c.457G>C	c.(457-459)Gag>Cag	p.E153Q	DCPS_ENST00000530860.1_3'UTR	NM_014026.3	NP_054745.1	Q96C86	DCPS_HUMAN	decapping enzyme, scavenger	153					cellular response to menadione (GO:0036245)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA metabolic process (GO:0016071)|negative regulation of programmed cell death (GO:0043069)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	m7G(5')pppN diphosphatase activity (GO:0050072)|RNA 7-methylguanosine cap binding (GO:0000340)			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08)		CCTGATCCGAGAGACGGGAGA	0.552																																						dbGAP											0													120.0	113.0	115.0					11																	126201380		2201	4298	6499	-	-	-	SO:0001583	missense	0			AF077201	CCDS8473.1	11q24	2008-02-05			ENSG00000110063	ENSG00000110063			29812	protein-coding gene	gene with protein product		610534				12198172, 14523240	Standard	NM_014026		Approved	HSPC015, HINT-5, HSL1	uc001qdp.3	Q96C86	OTTHUMG00000165829	ENST00000263579.4:c.457G>C	11.37:g.126201380G>C	ENSP00000263579:p.Glu153Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NHL8|Q9Y2S5	Missense_Mutation	SNP	pfam_Scavenger_mRNA_decap_enz,superfamily_HIT-like,superfamily_Scavenger_mRNA_decap_enz_N,pirsf_Scavenger_mRNA_decap_enz	p.E153Q	ENST00000263579.4	37	c.457	CCDS8473.1	11	.	.	.	.	.	.	.	.	.	.	G	32	5.147986	0.94603	.	.	ENSG00000110063	ENST00000263579	D	0.81739	-1.53	5.84	5.84	0.93424	Histidine triad-like motif (1);	0.000000	0.85682	D	0.000000	D	0.91968	0.7456	M	0.90542	3.125	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92879	0.6321	10	0.87932	D	0	-37.7866	18.9226	0.92530	0.0:0.0:1.0:0.0	.	153	Q96C86	DCPS_HUMAN	Q	153	ENSP00000263579:E153Q	ENSP00000263579:E153Q	E	+	1	0	DCPS	125706590	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.744000	0.91596	2.778000	0.95560	0.655000	0.94253	GAG	DCPS	-	superfamily_HIT-like,pirsf_Scavenger_mRNA_decap_enz	ENSG00000110063		0.552	DCPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCPS	HGNC	protein_coding	OTTHUMT00000386455.1	42	0.00	0	G	NM_014026		126201380	126201380	+1	no_errors	ENST00000263579	ensembl	human	known	69_37n	missense	26	36.59	15	SNP	1.000	C
DCST1	149095	genome.wustl.edu	37	1	155018651	155018651	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:155018651C>T	ENST00000295542.1	+	12	1419	c.1323C>T	c.(1321-1323)atC>atT	p.I441I	RP11-307C12.11_ENST00000452962.1_RNA|DCST1_ENST00000423025.2_Silent_p.I416I|DCST1_ENST00000392480.1_Silent_p.I441I|DCST1_ENST00000368419.2_Silent_p.I441I	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	441						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)			AAACCGTCATCTTCCCTTGCA	0.567																																						dbGAP											0													110.0	112.0	111.0					1																	155018651		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			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.1323C>T	1.37:g.155018651C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DXA0|E9PHV3|Q5T198|Q6P1W6|Q71S70|Q96M70	Silent	SNP	pfam_DC_STAMP-like,pfscan_Znf_RING	p.I441	ENST00000295542.1	37	c.1323	CCDS1083.1	1																																																																																			DCST1	-	pfam_DC_STAMP-like	ENSG00000163357		0.567	DCST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCST1	HGNC	protein_coding	OTTHUMT00000099006.1	66	0.00	0	C	NM_152494		155018651	155018651	+1	no_errors	ENST00000295542	ensembl	human	known	69_37n	silent	95	18.80	22	SNP	1.000	T
DCUN1D1	54165	genome.wustl.edu	37	3	182665365	182665365	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:182665365G>C	ENST00000292782.4	-	5	729	c.576C>G	c.(574-576)ttC>ttG	p.F192L	DCUN1D1_ENST00000469954.1_Missense_Mutation_p.F177L	NM_020640.2	NP_065691.2	Q96GG9	DCNL1_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 1	192	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.			KF -> RL (in Ref. 2; AAL78673). {ECO:0000305}.		ubiquitin ligase complex (GO:0000151)				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			ATAAGTCTAAGAATTTAAATC	0.259																																						dbGAP											0													48.0	51.0	50.0					3																	182665365		2197	4276	6473	-	-	-	SO:0001583	missense	0			AF292100, AK056335	CCDS3240.1	3q26.3	2013-06-10	2013-06-10		ENSG00000043093	ENSG00000043093			18184	protein-coding gene	gene with protein product	"""squamous cell carcinoma related oncogene"""	605905	"""DCN1, defective in cullin neddylation 1, domain containing 1 (S. cerevisiae)"""			10777668, 15988528	Standard	NM_020640		Approved	RP42, SCRO, DCUN1L1, Tes3, SCCRO	uc003fld.1	Q96GG9	OTTHUMG00000158314	ENST00000292782.4:c.576C>G	3.37:g.182665365G>C	ENSP00000292782:p.Phe192Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RB37|Q7L3G9|Q8TEX7|Q9H6M1|Q9HCT3	Missense_Mutation	SNP	pfam_PONY_dom,superfamily_UBA-like	p.F192L	ENST00000292782.4	37	c.576	CCDS3240.1	3	.	.	.	.	.	.	.	.	.	.	G	9.439	1.087618	0.20390	.	.	ENSG00000043093	ENST00000292782;ENST00000458486;ENST00000469954	.	.	.	5.15	3.36	0.38483	Domain of unknown function DUF298 (2);	0.046514	0.85682	D	0.000000	T	0.53029	0.1771	L	0.35723	1.085	0.58432	D	0.999999	D	0.89917	1.0	D	0.71184	0.972	T	0.54563	-0.8275	9	0.02654	T	1	-21.9945	9.7457	0.40446	0.2423:0.0:0.7577:0.0	.	192	Q96GG9	DCNL1_HUMAN	L	192;152;177	.	ENSP00000292782:F192L	F	-	3	2	DCUN1D1	184148059	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	2.224000	0.42945	0.558000	0.29135	0.551000	0.68910	TTC	DCUN1D1	-	pfam_PONY_dom	ENSG00000043093		0.259	DCUN1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCUN1D1	HGNC	protein_coding	OTTHUMT00000350658.1	74	0.00	0	G	NM_020640		182665365	182665365	-1	no_errors	ENST00000292782	ensembl	human	known	69_37n	missense	50	13.79	8	SNP	1.000	C
DCUN1D4	23142	genome.wustl.edu	37	4	52752778	52752778	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:52752778G>A	ENST00000334635.5	+	6	568	c.388G>A	c.(388-390)Gaa>Aaa	p.E130K	DCUN1D4_ENST00000381437.4_Missense_Mutation_p.E70K|DCUN1D4_ENST00000381441.3_Missense_Mutation_p.E130K|DCUN1D4_ENST00000451288.2_Missense_Mutation_p.E174K	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 4	130	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.					nucleus (GO:0005634)				endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			GAAATTTTGTGAAGACATTGG	0.363																																						dbGAP											0													188.0	188.0	188.0					4																	52752778		2203	4300	6503	-	-	-	SO:0001583	missense	0			D87466	CCDS3487.2, CCDS33982.1, CCDS75123.1	4q11	2013-06-10	2013-06-10		ENSG00000109184	ENSG00000109184			28998	protein-coding gene	gene with protein product		612977	"""DCN1, defective in cullin neddylation 1, domain containing 4 (S. cerevisiae)"""			15988528	Standard	XM_005265731		Approved	KIAA0276	uc003gze.3	Q92564	OTTHUMG00000128700	ENST00000334635.5:c.388G>A	4.37:g.52752778G>A	ENSP00000334625:p.Glu130Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DH25|Q7Z3F3|Q7Z6B8	Missense_Mutation	SNP	pfam_PONY_dom	p.E174K	ENST00000334635.5	37	c.520	CCDS33982.1	4	.	.	.	.	.	.	.	.	.	.	G	20.4	3.984711	0.74474	.	.	ENSG00000109184	ENST00000334635;ENST00000381441;ENST00000381437;ENST00000505403;ENST00000451288	T;T;T	0.65916	-0.18;-0.18;-0.18	5.79	5.79	0.91817	Domain of unknown function DUF298 (1);	0.000000	0.85682	D	0.000000	T	0.67933	0.2946	L	0.61387	1.9	0.80722	D	1	B;P;P	0.44877	0.402;0.845;0.589	B;P;B	0.47573	0.109;0.55;0.145	T	0.65948	-0.6044	10	0.36615	T	0.2	-27.1657	17.5304	0.87813	0.0:0.0:1.0:0.0	.	174;130;130	B4DH25;Q92564-2;Q92564	.;.;DCNL4_HUMAN	K	130;130;70;174;174	ENSP00000334625:E130K;ENSP00000370846:E70K;ENSP00000389900:E174K	ENSP00000334625:E130K	E	+	1	0	DCUN1D4	52447535	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.843000	0.92142	2.736000	0.93811	0.561000	0.74099	GAA	DCUN1D4	-	NULL	ENSG00000109184		0.363	DCUN1D4-001	KNOWN	basic|CCDS	protein_coding	DCUN1D4	HGNC	protein_coding	OTTHUMT00000250599.2	141	0.00	0	G	NM_015115		52752778	52752778	+1	no_errors	ENST00000451288	ensembl	human	known	69_37n	missense	110	20.29	28	SNP	1.000	A
DCUN1D4	23142	genome.wustl.edu	37	4	52777334	52777334	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:52777334C>G	ENST00000334635.5	+	9	894	c.714C>G	c.(712-714)ttC>ttG	p.F238L	DCUN1D4_ENST00000381437.4_Missense_Mutation_p.F178L|DCUN1D4_ENST00000381441.3_Intron|DCUN1D4_ENST00000451288.2_Missense_Mutation_p.F282L	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 4	238	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.					nucleus (GO:0005634)				endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			TTCACCAATTCTTAGAGGTAC	0.373																																						dbGAP											0													100.0	97.0	98.0					4																	52777334		2203	4300	6503	-	-	-	SO:0001583	missense	0			D87466	CCDS3487.2, CCDS33982.1, CCDS75123.1	4q11	2013-06-10	2013-06-10		ENSG00000109184	ENSG00000109184			28998	protein-coding gene	gene with protein product		612977	"""DCN1, defective in cullin neddylation 1, domain containing 4 (S. cerevisiae)"""			15988528	Standard	XM_005265731		Approved	KIAA0276	uc003gze.3	Q92564	OTTHUMG00000128700	ENST00000334635.5:c.714C>G	4.37:g.52777334C>G	ENSP00000334625:p.Phe238Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DH25|Q7Z3F3|Q7Z6B8	Missense_Mutation	SNP	pfam_PONY_dom	p.F282L	ENST00000334635.5	37	c.846	CCDS33982.1	4	.	.	.	.	.	.	.	.	.	.	C	24.2	4.503922	0.85176	.	.	ENSG00000109184	ENST00000334635;ENST00000381437;ENST00000451288;ENST00000510808	T;T;T	0.65732	-0.17;-0.17;-0.17	5.97	5.97	0.96955	Domain of unknown function DUF298 (2);	0.000000	0.85682	D	0.000000	D	0.83557	0.5280	H	0.96460	3.825	0.80722	D	1	D;D	0.89917	1.0;0.995	D;D	0.80764	0.994;0.956	D	0.86746	0.1957	10	0.87932	D	0	-22.6127	8.7866	0.34825	0.0:0.8421:0.0:0.1579	.	282;238	B4DH25;Q92564	.;DCNL4_HUMAN	L	238;178;282;48	ENSP00000334625:F238L;ENSP00000370846:F178L;ENSP00000389900:F282L	ENSP00000334625:F238L	F	+	3	2	DCUN1D4	52472091	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.511000	0.45476	2.836000	0.97738	0.655000	0.94253	TTC	DCUN1D4	-	pfam_PONY_dom	ENSG00000109184		0.373	DCUN1D4-001	KNOWN	basic|CCDS	protein_coding	DCUN1D4	HGNC	protein_coding	OTTHUMT00000250599.2	103	0.00	0	C	NM_015115		52777334	52777334	+1	no_errors	ENST00000451288	ensembl	human	known	69_37n	missense	72	30.77	32	SNP	1.000	G
DDB1	1642	genome.wustl.edu	37	11	61081549	61081549	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:61081549C>T	ENST00000301764.7	-	14	2120	c.1723G>A	c.(1723-1725)Gaa>Aaa	p.E575K	DDB1_ENST00000545930.1_5'Flank|DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	575	Interaction with CDT1.|WD repeat beta-propeller B; Interaction with CUL4A.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						TGCAGTAGTTCAAAAGAGGGC	0.502								Nucleotide excision repair (NER)																														dbGAP											0													95.0	96.0	96.0					11																	61081549		2203	4299	6502	-	-	-	SO:0001583	missense	0			AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.1723G>A	11.37:g.61081549C>T	ENSP00000301764:p.Glu575Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Missense_Mutation	SNP	pfam_Cleavage/polyA-sp_fac_asu_C	p.E575K	ENST00000301764.7	37	c.1723	CCDS31576.1	11	.	.	.	.	.	.	.	.	.	.	C	16.52	3.144977	0.57044	.	.	ENSG00000167986	ENST00000301764;ENST00000535147;ENST00000537877;ENST00000535967;ENST00000539739	T;T;T	0.46819	1.46;0.87;0.86	5.71	5.71	0.89125	WD40/YVTN repeat-like-containing domain (1);	0.279756	0.40640	N	0.001043	T	0.47210	0.1433	M	0.67569	2.06	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.34104	-0.9842	10	0.25106	T	0.35	-20.309	15.3475	0.74350	0.0:0.861:0.139:0.0	.	575	Q16531	DDB1_HUMAN	K	575;42;139;226;294	ENSP00000301764:E575K;ENSP00000437713:E226K;ENSP00000445563:E294K	ENSP00000301764:E575K	E	-	1	0	DDB1	60838125	1.000000	0.71417	0.999000	0.59377	0.917000	0.54804	4.308000	0.59129	2.711000	0.92665	0.563000	0.77884	GAA	DDB1	-	NULL	ENSG00000167986		0.502	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	DDB1	HGNC	protein_coding	OTTHUMT00000398816.1	85	0.00	0	C	NM_001923		61081549	61081549	-1	no_errors	ENST00000301764	ensembl	human	known	69_37n	missense	96	21.95	27	SNP	1.000	T
DDX10	1662	genome.wustl.edu	37	11	108590534	108590534	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:108590534C>G	ENST00000322536.3	+	12	1550	c.1421C>G	c.(1420-1422)tCc>tGc	p.S474C	DDX10_ENST00000526794.1_Missense_Mutation_p.S474C	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	474					metabolic process (GO:0008152)		ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		TGTTTCGTCTCCTATGTACGA	0.294			T	NUP98	AML*																																	dbGAP		Dom	yes		11	11q22-q23	1662	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10		L	0													108.0	103.0	105.0					11																	108590534		2201	4298	6499	-	-	-	SO:0001583	missense	0			U28042	CCDS8342.1	11q22-q23	2005-10-11	2003-06-13		ENSG00000178105	ENSG00000178105		"""DEAD-boxes"""	2735	protein-coding gene	gene with protein product		601235	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)"""			8660968	Standard	NM_004398		Approved	HRH-J8	uc001pkm.3	Q13206	OTTHUMG00000166540	ENST00000322536.3:c.1421C>G	11.37:g.108590534C>G	ENSP00000314348:p.Ser474Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCQ3|Q5BJD8	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.S474C	ENST00000322536.3	37	c.1421	CCDS8342.1	11	.	.	.	.	.	.	.	.	.	.	C	14.11	2.436512	0.43224	.	.	ENSG00000178105	ENST00000322536;ENST00000456020;ENST00000526794	T;T	0.55930	0.49;0.51	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.77831	0.4189	M	0.86573	2.825	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.81099	-0.1086	10	0.87932	D	0	-9.1124	19.7694	0.96356	0.0:1.0:0.0:0.0	.	474;474	Q13206;E9PIF2	DDX10_HUMAN;.	C	474;380;474	ENSP00000314348:S474C;ENSP00000432032:S474C	ENSP00000314348:S474C	S	+	2	0	DDX10	108095744	1.000000	0.71417	1.000000	0.80357	0.076000	0.17211	5.653000	0.67967	2.748000	0.94277	0.650000	0.86243	TCC	DDX10	-	NULL	ENSG00000178105		0.294	DDX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX10	HGNC	protein_coding	OTTHUMT00000390343.1	165	0.60	1	C	NM_004398		108590534	108590534	+1	no_errors	ENST00000322536	ensembl	human	known	69_37n	missense	126	19.75	31	SNP	1.000	G
DDX11	1663	genome.wustl.edu	37	12	31254835	31254835	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:31254835C>A	ENST00000407793.2	+	21	2372	c.2121C>A	c.(2119-2121)ttC>ttA	p.F707L	DDX11_ENST00000228264.6_Missense_Mutation_p.F681L|DDX11_ENST00000350437.4_Intron|DDX11_ENST00000542838.1_Missense_Mutation_p.F707L|DDX11_ENST00000545668.1_Missense_Mutation_p.F707L|DDX11_ENST00000251758.5_3'UTR	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	707					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TCTGTTTCTTCCCCTCCTACG	0.627										Multiple Myeloma(12;0.14)																												dbGAP											0													124.0	125.0	125.0					12																	31254835		1948	4133	6081	-	-	-	SO:0001583	missense	0			U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.2121C>A	12.37:g.31254835C>A	ENSP00000384703:p.Phe707Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	pfam_DEAD_2,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.F707L	ENST00000407793.2	37	c.2121	CCDS44856.1	12	.	.	.	.	.	.	.	.	.	.	C	14.27	2.486164	0.44147	.	.	ENSG00000013573	ENST00000542838;ENST00000407793;ENST00000404673;ENST00000228264;ENST00000545668	D;D;D;D	0.94497	-3.44;-3.44;-3.44;-3.44	3.85	2.94	0.34122	.	0.101694	0.64402	N	0.000002	D	0.90635	0.7063	L	0.60904	1.88	0.80722	D	1	B;B;B	0.26445	0.119;0.149;0.119	B;B;B	0.28709	0.084;0.093;0.084	D	0.83770	0.0219	10	0.23302	T	0.38	.	6.3152	0.21186	0.0:0.7704:0.0:0.2296	.	681;707;707	Q96FC9-3;Q96FC9;Q96FC9-2	.;DDX11_HUMAN;.	L	707;707;432;681;707	ENSP00000443426:F707L;ENSP00000384703:F707L;ENSP00000228264:F681L;ENSP00000440402:F707L	ENSP00000228264:F681L	F	+	3	2	DDX11	31146102	1.000000	0.71417	0.996000	0.52242	0.982000	0.71751	0.840000	0.27600	0.791000	0.33826	0.603000	0.83216	TTC	DDX11	-	tigrfam_DNA_helicase_DNA-repair_Rad3	ENSG00000013573		0.627	DDX11-202	KNOWN	basic|CCDS	protein_coding	DDX11	HGNC	protein_coding	OTTHUMT00000399728.1	200	0.00	0	C	NM_030653		31254835	31254835	+1	no_errors	ENST00000407793	ensembl	human	known	69_37n	missense	226	16.54	45	SNP	1.000	A
DDX31	64794	genome.wustl.edu	37	9	135487494	135487494	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:135487494C>G	ENST00000372159.3	-	19	2440	c.2289G>C	c.(2287-2289)aaG>aaC	p.K763N	DDX31_ENST00000372153.1_Missense_Mutation_p.K690N|DDX31_ENST00000438527.3_Missense_Mutation_p.K634N	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	763						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		GTGCTTTCCTCTTCTTTCTAG	0.527																																						dbGAP											0													227.0	181.0	197.0					9																	135487494		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF427339	CCDS6951.1, CCDS6952.1	9q34.2	2012-04-17	2003-06-13		ENSG00000125485	ENSG00000125485		"""DEAD-boxes"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16715	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 25"""		"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 31"""				Standard	NM_022779		Approved	FLJ13633, FLJ23349, FLJ14578, PPP1R25	uc004cbq.1	Q9H8H2	OTTHUMG00000020843	ENST00000372159.3:c.2289G>C	9.37:g.135487494C>G	ENSP00000361232:p.Lys763Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5K6N2|Q5K6N3|Q5K6N4|Q5VZJ4|Q5VZJ9|Q96E91|Q96NY2|Q96SX5|Q9H5K6	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.K763N	ENST00000372159.3	37	c.2289	CCDS6951.1	9	.	.	.	.	.	.	.	.	.	.	C	11.10	1.538998	0.27475	.	.	ENSG00000125485	ENST00000372159;ENST00000372153;ENST00000438527	T;T;T	0.04360	4.22;3.64;4.19	5.84	-2.94	0.05581	.	0.547984	0.19198	N	0.120256	T	0.03695	0.0105	L	0.39898	1.24	0.54753	D	0.999988	B;P	0.34462	0.225;0.454	B;B	0.27380	0.079;0.071	T	0.41910	-0.9482	10	0.34782	T	0.22	-11.2822	11.6631	0.51358	0.0:0.3241:0.0:0.6759	.	690;763	Q9H8H2-2;Q9H8H2	.;DDX31_HUMAN	N	763;690;634	ENSP00000361232:K763N;ENSP00000361226:K690N;ENSP00000387730:K634N	ENSP00000361226:K690N	K	-	3	2	DDX31	134477315	0.787000	0.28750	0.004000	0.12327	0.048000	0.14542	0.223000	0.17719	-0.438000	0.07232	-0.940000	0.02684	AAG	DDX31	-	NULL	ENSG00000125485		0.527	DDX31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DDX31	HGNC	protein_coding	OTTHUMT00000054794.1	63	0.00	0	C	NM_138620		135487494	135487494	-1	no_errors	ENST00000372159	ensembl	human	known	69_37n	missense	80	40.30	54	SNP	0.005	G
DDX3X	1654	genome.wustl.edu	37	X	41206171	41206171	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:41206171C>A	ENST00000399959.2	+	15	2530	c.1675C>A	c.(1675-1677)Ctt>Att	p.L559I	RN7SL15P_ENST00000582825.1_RNA|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000457138.2_Missense_Mutation_p.L543I|DDX3X_ENST00000478993.1_3'UTR	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	559	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with GSK3B.				ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						TTTGTTGGATCTTCTTGTTGA	0.403										HNSCC(61;0.18)																												dbGAP											0													92.0	90.0	91.0					X																	41206171		2171	4272	6443	-	-	-	SO:0001583	missense	0			U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"""DEAD-boxes"""	2745	protein-coding gene	gene with protein product		300160	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"""	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.1675C>A	X.37:g.41206171C>A	ENSP00000382840:p.Leu559Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K538|B4E3E8|O15536	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.L559I	ENST00000399959.2	37	c.1675	CCDS43931.1	X	.	.	.	.	.	.	.	.	.	.	C	13.37	2.215955	0.39201	.	.	ENSG00000215301	ENST00000399959;ENST00000457138	T;T	0.21734	1.99;2.01	5.28	5.28	0.74379	Helicase, C-terminal (1);	0.109390	0.64402	D	0.000007	T	0.21550	0.0519	L	0.35644	1.08	0.80722	D	1	B;B;B;B	0.30584	0.05;0.286;0.15;0.15	B;B;B;B	0.37989	0.262;0.224;0.224;0.224	T	0.04537	-1.0944	10	0.42905	T	0.14	-7.8217	12.4205	0.55518	0.0:0.9178:0.0:0.0822	.	429;543;571;559	B4DLU5;B4E3E8;Q59GX6;O00571	.;.;.;DDX3X_HUMAN	I	559;543	ENSP00000382840:L559I;ENSP00000392494:L543I	ENSP00000382840:L559I	L	+	1	0	DDX3X	41091115	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.446000	0.44908	2.209000	0.71365	0.529000	0.55759	CTT	DDX3X	-	pfscan_Helicase_C	ENSG00000215301		0.403	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX3X	HGNC	protein_coding	OTTHUMT00000056253.1	129	0.77	1	C	NM_024005		41206171	41206171	+1	no_errors	ENST00000399959	ensembl	human	known	69_37n	missense	103	20.77	27	SNP	1.000	A
DDX5	1655	genome.wustl.edu	37	17	62498636	62498636	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:62498636C>A	ENST00000225792.5	-	9	1416	c.1015G>T	c.(1015-1017)Gag>Tag	p.E339*	DDX5_ENST00000580026.1_5'Flank|MIR3064_ENST00000581130.1_RNA|MIR5047_ENST00000579212.1_RNA|DDX5_ENST00000578804.1_Nonsense_Mutation_p.E339*|DDX5_ENST00000450599.2_Nonsense_Mutation_p.E260*	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	339	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cell growth (GO:0016049)|circadian rhythm (GO:0007623)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of osteoblast differentiation (GO:0045667)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of viral genome replication (GO:0045069)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA helicase activity (GO:0003724)|transcription coactivator activity (GO:0003713)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			TTCTCCTTCTCACTCATGATC	0.378			T	ETV4	prostate																																NSCLC(22;406 813 4871 19580 40307)	dbGAP		Dom	yes		17	17q21	1655	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5		E	0													128.0	118.0	122.0					17																	62498636		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF015812	CCDS11659.1	17q21	2012-07-27	2012-02-23		ENSG00000108654	ENSG00000108654		"""DEAD-boxes"""	2746	protein-coding gene	gene with protein product		180630	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 5"""	HLR1, G17P1		22156369, 18698352	Standard	NM_004396		Approved	p68	uc002jek.2	P17844	OTTHUMG00000178936	ENST00000225792.5:c.1015G>T	17.37:g.62498636C>A	ENSP00000225792:p.Glu339*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DLW8|B5BU21|D3DU32|E7ETL9|O75681|Q53Y61	Nonsense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_P68HR,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.E339*	ENST00000225792.5	37	c.1015	CCDS11659.1	17	.	.	.	.	.	.	.	.	.	.	C	39	7.424809	0.98275	.	.	ENSG00000108654	ENST00000540698;ENST00000450599;ENST00000225792	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-17.0177	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	339;269;328	.	ENSP00000225792:E328X	E	-	1	0	DDX5	59929098	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.346000	0.79347	2.941000	0.99782	0.655000	0.94253	GAG	DDX5	-	pfscan_Helicase_C	ENSG00000108654		0.378	DDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX5	HGNC	protein_coding	OTTHUMT00000444030.1	133	0.00	0	C	NM_004396		62498636	62498636	-1	no_errors	ENST00000225792	ensembl	human	known	69_37n	nonsense	198	16.46	39	SNP	1.000	A
DDX51	317781	genome.wustl.edu	37	12	132625197	132625197	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:132625197G>C	ENST00000397333.3	-	10	1562	c.1524C>G	c.(1522-1524)ctC>ctG	p.L508L		NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	508	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		TAGTGAAGCAGAGAACCCTCG	0.652																																						dbGAP											0													61.0	69.0	67.0					12																	132625197		2018	4184	6202	-	-	-	SO:0001819	synonymous_variant	0			BC040185	CCDS41865.1	12q24.33	2005-10-12				ENSG00000185163		"""DEAD-boxes"""	20082	protein-coding gene	gene with protein product							Standard	NM_175066		Approved		uc001ujy.4	Q8N8A6		ENST00000397333.3:c.1524C>G	12.37:g.132625197G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MPT9|Q5CZ71|Q8IXK5|Q96ED1	Silent	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L508	ENST00000397333.3	37	c.1524	CCDS41865.1	12																																																																																			DDX51	-	pfscan_Helicase_C	ENSG00000185163		0.652	DDX51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX51	HGNC	protein_coding	OTTHUMT00000398978.1	53	0.00	0	G	NM_175066		132625197	132625197	-1	no_errors	ENST00000397333	ensembl	human	known	69_37n	silent	51	20.31	13	SNP	0.553	C
DECR1	1666	genome.wustl.edu	37	8	91029411	91029411	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:91029411C>G	ENST00000220764.2	+	2	217	c.129C>G	c.(127-129)ttC>ttG	p.F43L	DECR1_ENST00000522161.1_Missense_Mutation_p.F34L|DECR1_ENST00000519007.1_3'UTR	NM_001359.1	NP_001350.1	Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1, mitochondrial	43					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2,4-dienoyl-CoA reductase (NADPH) activity (GO:0008670)|NADPH binding (GO:0070402)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15			BRCA - Breast invasive adenocarcinoma(11;0.00953)			AATCTAAATTCTTTTCACCTC	0.333																																						dbGAP											0													76.0	79.0	78.0					8																	91029411		2203	4300	6503	-	-	-	SO:0001583	missense	0			L26050	CCDS6250.1	8q21.3	2011-09-14			ENSG00000104325	ENSG00000104325		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	2753	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 18C, member 1"""	222745		DECR		7818482, 19027726	Standard	NM_001359		Approved	SDR18C1	uc003yek.1	Q16698	OTTHUMG00000163829	ENST00000220764.2:c.129C>G	8.37:g.91029411C>G	ENSP00000220764:p.Phe43Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z6B8|Q2M304|Q93085	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH	p.F43L	ENST00000220764.2	37	c.129	CCDS6250.1	8	.	.	.	.	.	.	.	.	.	.	C	16.73	3.204264	0.58234	.	.	ENSG00000104325	ENST00000220764;ENST00000519410;ENST00000522161;ENST00000517761	D;D;D;D	0.84589	-1.64;-1.87;-1.78;-1.85	5.88	4.1	0.47936	.	0.000000	0.85682	D	0.000000	D	0.83298	0.5224	M	0.68317	2.08	0.80722	D	1	B;B	0.11235	0.004;0.004	B;B	0.11329	0.003;0.006	T	0.79361	-0.1835	10	0.62326	D	0.03	.	12.4382	0.55610	0.0:0.8646:0.0:0.1354	.	34;43	B7Z6B8;Q16698	.;DECR_HUMAN	L	43;21;34;34	ENSP00000220764:F43L;ENSP00000430561:F21L;ENSP00000429779:F34L;ENSP00000427936:F34L	ENSP00000220764:F43L	F	+	3	2	DECR1	91098587	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	3.431000	0.52814	0.836000	0.34901	0.655000	0.94253	TTC	DECR1	-	NULL	ENSG00000104325		0.333	DECR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DECR1	HGNC	protein_coding	OTTHUMT00000375822.1	113	0.00	0	C			91029411	91029411	+1	no_errors	ENST00000220764	ensembl	human	known	69_37n	missense	58	57.35	78	SNP	1.000	G
DENND4C	55667	genome.wustl.edu	37	9	19336401	19336401	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:19336401C>G	ENST00000380432.2	+	15	2048	c.2015C>G	c.(2014-2016)tCc>tGc	p.S672C	DENND4C_ENST00000434457.2_Missense_Mutation_p.S908C|DENND4C_ENST00000602925.1_Missense_Mutation_p.S908C			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	672				RSQVSSIS -> CKSAFFLT (in Ref. 3; CAH10466). {ECO:0000305}.	cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TCACAGGTCTCCTCAATATCA	0.393																																						dbGAP											0													65.0	58.0	60.0					9																	19336401		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"""DENN/MADD domain containing"""	26079	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 55B"", ""chromosome 9 open reading frame 55"""	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.2015C>G	9.37:g.19336401C>G	ENSP00000369797:p.Ser672Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.S672C	ENST00000380432.2	37	c.2015		9	.	.	.	.	.	.	.	.	.	.	C	13.10	2.137380	0.37728	.	.	ENSG00000137145	ENST00000380437;ENST00000307015;ENST00000380432	T	0.25579	1.79	5.25	4.34	0.51931	.	0.800389	0.11979	N	0.511008	T	0.13670	0.0331	N	0.08118	0	0.80722	D	1	P	0.52463	0.953	B	0.36959	0.237	T	0.10497	-1.0627	10	0.52906	T	0.07	-5.0077	13.4126	0.60952	0.0:0.9207:0.0:0.0793	.	672	Q5VZ89	DEN4C_HUMAN	C	672;99;99	ENSP00000305795:S99C	ENSP00000305795:S99C	S	+	2	0	DENND4C	19326401	.	.	1.000000	0.80357	0.964000	0.63967	.	.	1.513000	0.48852	0.585000	0.79938	TCC	DENND4C	-	NULL	ENSG00000137145		0.393	DENND4C-201	KNOWN	basic	protein_coding	DENND4C	HGNC	protein_coding		65	0.00	0	C	NM_017925		19336401	19336401	+1	no_errors	ENST00000380437	ensembl	human	known	69_37n	missense	27	55.00	33	SNP	0.998	G
DENND1A	57706	genome.wustl.edu	37	9	126214573	126214573	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:126214573C>T	ENST00000373624.2	-	17	1482	c.1281G>A	c.(1279-1281)atG>atA	p.M427I	DENND1A_ENST00000542603.1_Missense_Mutation_p.M169I|DENND1A_ENST00000373620.3_Missense_Mutation_p.M427I|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394219.3_Missense_Mutation_p.M395I|DENND1A_ENST00000373618.1_Missense_Mutation_p.M395I|DENND1A_ENST00000394215.2_Missense_Mutation_p.M397I	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	427					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						AGACAGTCTTCATGGCCGGAT	0.378																																						dbGAP											0													185.0	157.0	167.0					9																	126214573		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522		"""DENN/MADD domain containing"""	29324	protein-coding gene	gene with protein product		613633	"""KIAA1608"""	KIAA1608		10997877	Standard	XM_005252109		Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.1281G>A	9.37:g.126214573C>T	ENSP00000362727:p.Met427Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.M395I	ENST00000373624.2	37	c.1185	CCDS35133.1	9	.	.	.	.	.	.	.	.	.	.	C	23.8	4.462354	0.84425	.	.	ENSG00000119522	ENST00000373624;ENST00000542603;ENST00000394219;ENST00000373620;ENST00000394215;ENST00000373618	T;T;T;T;T;T	0.23147	3.35;1.92;3.27;3.42;3.25;3.29	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.41994	0.1183	M	0.76574	2.34	0.80722	D	1	P;P;P;P;P;P;P	0.52577	0.732;0.583;0.575;0.594;0.732;0.613;0.954	P;B;B;P;P;B;P	0.47744	0.556;0.322;0.211;0.458;0.458;0.354;0.541	T	0.40831	-0.9542	10	0.62326	D	0.03	-22.4572	19.6758	0.95932	0.0:1.0:0.0:0.0	.	395;385;395;397;427;427;247	Q8TEH3-6;Q8TEH3-7;Q8TEH3-4;Q8TEH3-5;Q8TEH3-2;Q8TEH3;Q9HCG4	.;.;.;.;.;DEN1A_HUMAN;.	I	427;169;395;427;397;395	ENSP00000362727:M427I;ENSP00000437457:M169I;ENSP00000377766:M395I;ENSP00000362722:M427I;ENSP00000377763:M397I;ENSP00000362720:M395I	ENSP00000362720:M395I	M	-	3	0	DENND1A	125254394	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.277000	0.78572	2.644000	0.89710	0.561000	0.74099	ATG	DENND1A	-	NULL	ENSG00000119522		0.378	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DENND1A	HGNC	protein_coding	OTTHUMT00000053997.1	204	0.00	0	C	NM_024820		126214573	126214573	-1	no_errors	ENST00000394219	ensembl	human	known	69_37n	missense	137	38.84	87	SNP	1.000	T
DENND5B	160518	genome.wustl.edu	37	12	31613157	31613157	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:31613157C>T	ENST00000389082.5	-	4	1327	c.1063G>A	c.(1063-1065)Gac>Aac	p.D355N	DENND5B_ENST00000545147.1_5'Flank|DENND5B_ENST00000354285.4_Missense_Mutation_p.D377N|DENND5B_ENST00000306833.6_Missense_Mutation_p.D390N|DENND5B_ENST00000536562.1_Missense_Mutation_p.D390N	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	355	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TTAGAACGGTCAGTTCCTTCT	0.418																																						dbGAP											0													82.0	76.0	78.0					12																	31613157		1934	4136	6070	-	-	-	SO:0001583	missense	0			AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"""DENN/MADD domain containing"""	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.1063G>A	12.37:g.31613157C>T	ENSP00000373734:p.Asp355Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Missense_Mutation	SNP	pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_LipOase_LH2,pfscan_Run	p.D390N	ENST00000389082.5	37	c.1168	CCDS44857.1	12	.	.	.	.	.	.	.	.	.	.	C	25.3	4.627137	0.87560	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562;ENST00000354285;ENST00000546299	T;T;T;T;T	0.08370	3.61;3.71;3.71;3.1;3.11	4.59	4.59	0.56863	DENN (3);	0.000000	0.85682	D	0.000000	T	0.26340	0.0643	M	0.66439	2.03	0.58432	D	0.999999	D;P;D;P;P	0.71674	0.989;0.86;0.998;0.645;0.86	P;P;D;B;B	0.68483	0.897;0.661;0.958;0.411;0.43	T	0.00844	-1.1543	10	0.33141	T	0.24	-0.0299	17.9279	0.88989	0.0:1.0:0.0:0.0	.	390;277;377;355;390	Q6ZUT9-2;Q6ZUT9-3;Q6ZUT9-4;Q6ZUT9;G3V1S3	.;.;.;DEN5B_HUMAN;.	N	355;390;390;377;307	ENSP00000373734:D355N;ENSP00000306482:D390N;ENSP00000444889:D390N;ENSP00000346238:D377N;ENSP00000442938:D307N	ENSP00000306482:D390N	D	-	1	0	DENND5B	31504424	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.410000	0.80065	2.534000	0.85438	0.655000	0.94253	GAC	DENND5B	-	pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom	ENSG00000170456		0.418	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND5B	HGNC	protein_coding	OTTHUMT00000402040.1	95	0.00	0	C	NM_144973		31613157	31613157	-1	no_errors	ENST00000306833	ensembl	human	known	69_37n	missense	65	17.72	14	SNP	1.000	T
DEPDC1	55635	genome.wustl.edu	37	1	68948474	68948474	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:68948474G>C	ENST00000456315.2	-	8	1131	c.1017C>G	c.(1015-1017)ttC>ttG	p.F339L	RP4-694A7.2_ENST00000425820.1_RNA|DEPDC1_ENST00000370966.5_Intron	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	339					intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase activator activity (GO:0005096)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		CAGTTGATTTGAAGGAATTCA	0.363																																						dbGAP											0													102.0	92.0	95.0					1																	68948474		1568	3581	5149	-	-	-	SO:0001583	missense	0			AK000361	CCDS644.1, CCDS44159.1	1p31.2	2008-08-19			ENSG00000024526	ENSG00000024526			22949	protein-coding gene	gene with protein product		612002					Standard	NM_001114120		Approved	DEP.8, FLJ20354, SDP35, DEPDC1A	uc001dem.4	Q5TB30	OTTHUMG00000009212	ENST00000456315.2:c.1017C>G	1.37:g.68948474G>C	ENSP00000412292:p.Phe339Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8QXE0|A8QXE1|Q05DU3|Q5TB28|Q9H9I3|Q9NX21|Q9NXZ0	Missense_Mutation	SNP	pfam_DEP_dom,superfamily_Rho_GTPase_activation_prot,smart_DEP_dom,pfscan_DEP_dom	p.F339L	ENST00000456315.2	37	c.1017	CCDS44159.1	1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.611905	0.66558	.	.	ENSG00000024526	ENST00000456315;ENST00000370964	T	0.17691	2.26	5.58	5.58	0.84498	Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.20088	0.0483	L	0.34521	1.04	0.80722	D	1	D	0.67145	0.996	D	0.65443	0.935	T	0.02371	-1.1169	10	0.19590	T	0.45	-3.6527	19.5768	0.95447	0.0:0.0:1.0:0.0	.	339	Q5TB30	DEP1A_HUMAN	L	339;295	ENSP00000412292:F339L	ENSP00000360003:F295L	F	-	3	2	DEPDC1	68721062	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.215000	0.65241	2.622000	0.88805	0.650000	0.86243	TTC	DEPDC1	-	superfamily_Rho_GTPase_activation_prot	ENSG00000024526		0.363	DEPDC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DEPDC1	HGNC	protein_coding	OTTHUMT00000025514.2	97	0.00	0	G	NM_017779		68948474	68948474	-1	no_errors	ENST00000456315	ensembl	human	known	69_37n	missense	82	14.58	14	SNP	1.000	C
DEPDC4	120863	genome.wustl.edu	37	12	100657285	100657285	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:100657285C>A	ENST00000416321.1	-	2	546	c.544G>T	c.(544-546)Gaa>Taa	p.E182*		NM_152317.2	NP_689530.1	Q8N2C3	DEPD4_HUMAN	DEP domain containing 4	182					intracellular signal transduction (GO:0035556)					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1)	15						CTCAAGGTTTCATTGAACTCA	0.328																																						dbGAP											0													69.0	67.0	68.0					12																	100657285		2202	4298	6500	-	-	-	SO:0001587	stop_gained	0			AK090824	CCDS9075.1	12q23	2006-03-30				ENSG00000166153			22952	protein-coding gene	gene with protein product						12477932	Standard	XM_005268628		Approved	DEP.4, FLJ33505	uc001thi.3	Q8N2C3		ENST00000416321.1:c.544G>T	12.37:g.100657285C>A	ENSP00000396234:p.Glu182*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q496C8|Q96BW0	Nonsense_Mutation	SNP	pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom	p.E182*	ENST00000416321.1	37	c.544	CCDS9075.1	12	.	.	.	.	.	.	.	.	.	.	C	14.50	2.554258	0.45487	.	.	ENSG00000166153	ENST00000422147;ENST00000378250;ENST00000416321;ENST00000550587;ENST00000549249;ENST00000551642	.	.	.	4.3	1.38	0.22167	.	4.810190	0.00397	U	0.000054	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	3.8897	0.09113	0.0:0.5737:0.2024:0.2239	.	.	.	.	X	182;115;182;182;115;175	.	ENSP00000367490:E182X	E	-	1	0	DEPDC4	99181416	0.000000	0.05858	0.005000	0.12908	0.015000	0.08874	-0.015000	0.12634	0.100000	0.17581	0.563000	0.77884	GAA	DEPDC4	-	NULL	ENSG00000166153		0.328	DEPDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEPDC4	HGNC	protein_coding	OTTHUMT00000408482.1	89	0.00	0	C	NM_152317		100657285	100657285	-1	no_errors	ENST00000378244	ensembl	human	known	69_37n	nonsense	92	17.86	20	SNP	0.006	A
DFFA	1676	genome.wustl.edu	37	1	10523142	10523142	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:10523142C>A	ENST00000377038.3	-	5	823	c.756G>T	c.(754-756)gaG>gaT	p.E252D	DFFA_ENST00000377036.2_Missense_Mutation_p.E252D	NM_004401.2	NP_004392.1	O00273	DFFA_HUMAN	DNA fragmentation factor, 45kDa, alpha polypeptide	252					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|negative regulation of apoptotic DNA fragmentation (GO:1902511)|negative regulation of execution phase of apoptosis (GO:1900118)|positive regulation of apoptotic process (GO:0043065)|thymocyte apoptotic process (GO:0070242)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				large_intestine(3)|lung(2)	5	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-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;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		ATAAGCTCAGCTCTGGAGCCT	0.562																																						dbGAP											0													109.0	90.0	96.0					1																	10523142		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF087573	CCDS118.1, CCDS119.1	1p36.3-p36.2	2008-07-18	2002-08-29		ENSG00000160049	ENSG00000160049			2772	protein-coding gene	gene with protein product	"""DNA fragmentation factor, 45 kD, alpha subunit"""	601882	"""DNA fragmentation factor, 45 kD, alpha polypeptide"""			9605855, 9108473	Standard	NM_004401		Approved	DFF-45, DFF45, ICAD, DFF1	uc001arj.3	O00273	OTTHUMG00000001909	ENST00000377038.3:c.756G>T	1.37:g.10523142C>A	ENSP00000366237:p.Glu252Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T6G5|Q5T6G6|Q96I97|Q9Y6C6	Missense_Mutation	SNP	pfam_DNA_fragmentation_C,pfam_CAD,smart_CAD,pirsf_DNA_fragmentation_factor_asu,pfscan_CAD	p.E252D	ENST00000377038.3	37	c.756	CCDS118.1	1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.650965	0.67472	.	.	ENSG00000160049	ENST00000377038;ENST00000377036	.	.	.	4.74	1.58	0.23477	DNA fragmentation factor 45kDa, C-terminal (3);	0.099135	0.64402	D	0.000002	T	0.68026	0.2956	M	0.68952	2.095	0.43835	D	0.996416	D;D	0.89917	1.0;0.999	D;D	0.74023	0.982;0.968	T	0.65977	-0.6037	9	0.66056	D	0.02	-28.2474	7.2795	0.26304	0.0:0.6066:0.0:0.3934	.	252;252	O00273-2;O00273	.;DFFA_HUMAN	D	252	.	ENSP00000366235:E252D	E	-	3	2	DFFA	10445729	1.000000	0.71417	0.998000	0.56505	0.921000	0.55340	1.095000	0.30964	0.320000	0.23234	-0.143000	0.13931	GAG	DFFA	-	pfam_DNA_fragmentation_C,pirsf_DNA_fragmentation_factor_asu	ENSG00000160049		0.562	DFFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DFFA	HGNC	protein_coding	OTTHUMT00000005418.1	62	0.00	0	C	NM_004401		10523142	10523142	-1	no_errors	ENST00000377038	ensembl	human	known	69_37n	missense	62	16.22	12	SNP	1.000	A
DFFA	1676	genome.wustl.edu	37	1	10527263	10527263	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:10527263G>A	ENST00000377038.3	-	3	492	c.425C>T	c.(424-426)tCa>tTa	p.S142L	DFFA_ENST00000377036.2_Missense_Mutation_p.S142L	NM_004401.2	NP_004392.1	O00273	DFFA_HUMAN	DNA fragmentation factor, 45kDa, alpha polypeptide	142					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|negative regulation of apoptotic DNA fragmentation (GO:1902511)|negative regulation of execution phase of apoptosis (GO:1900118)|positive regulation of apoptotic process (GO:0043065)|thymocyte apoptotic process (GO:0070242)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				large_intestine(3)|lung(2)	5	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-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;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		GTCCTCCTCTGATAGGAGGAT	0.537																																						dbGAP											0													146.0	139.0	141.0					1																	10527263		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF087573	CCDS118.1, CCDS119.1	1p36.3-p36.2	2008-07-18	2002-08-29		ENSG00000160049	ENSG00000160049			2772	protein-coding gene	gene with protein product	"""DNA fragmentation factor, 45 kD, alpha subunit"""	601882	"""DNA fragmentation factor, 45 kD, alpha polypeptide"""			9605855, 9108473	Standard	NM_004401		Approved	DFF-45, DFF45, ICAD, DFF1	uc001arj.3	O00273	OTTHUMG00000001909	ENST00000377038.3:c.425C>T	1.37:g.10527263G>A	ENSP00000366237:p.Ser142Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T6G5|Q5T6G6|Q96I97|Q9Y6C6	Missense_Mutation	SNP	pfam_DNA_fragmentation_C,pfam_CAD,smart_CAD,pirsf_DNA_fragmentation_factor_asu,pfscan_CAD	p.S142L	ENST00000377038.3	37	c.425	CCDS118.1	1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.412278	0.25465	.	.	ENSG00000160049	ENST00000377038;ENST00000377036	.	.	.	5.68	4.77	0.60923	DNA fragmentation factor 45kDa, C-terminal (2);	0.055021	0.85682	D	0.000000	T	0.66157	0.2761	M	0.68952	2.095	0.51767	D	0.99993	P;P	0.52842	0.672;0.956	B;P	0.51324	0.184;0.666	T	0.71115	-0.4686	9	0.72032	D	0.01	-1.5431	14.6101	0.68510	0.07:0.0:0.93:0.0	.	142;142	O00273-2;O00273	.;DFFA_HUMAN	L	142	.	ENSP00000366235:S142L	S	-	2	0	DFFA	10449850	1.000000	0.71417	0.773000	0.31616	0.013000	0.08279	7.769000	0.85360	1.417000	0.47077	-0.142000	0.14014	TCA	DFFA	-	pfam_DNA_fragmentation_C,pirsf_DNA_fragmentation_factor_asu	ENSG00000160049		0.537	DFFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DFFA	HGNC	protein_coding	OTTHUMT00000005418.1	96	0.00	0	G	NM_004401		10527263	10527263	-1	no_errors	ENST00000377038	ensembl	human	known	69_37n	missense	86	27.12	32	SNP	0.982	A
DGAT1	8694	genome.wustl.edu	37	8	145540701	145540701	+	Missense_Mutation	SNP	G	G	A	rs573410614		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:145540701G>A	ENST00000332324.4	-	15	1505	c.1232C>T	c.(1231-1233)tCg>tTg	p.S411L	GS1-393G12.12_ENST00000525023.1_RNA|DGAT1_ENST00000527438.1_5'UTR	NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1	411					acylglycerol acyl-chain remodeling (GO:0036155)|cellular lipid metabolic process (GO:0044255)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|lipid storage (GO:0019915)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	diacylglycerol O-acyltransferase activity (GO:0004144)|retinol O-fatty-acyltransferase activity (GO:0050252)|transferase activity, transferring acyl groups (GO:0016746)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			GAAGAAGGCCGAGGCCAGGAA	0.637																																						dbGAP											0													58.0	57.0	57.0					8																	145540701		2203	4296	6499	-	-	-	SO:0001583	missense	0			AF059202	CCDS6420.1	8q24.3	2014-05-06	2010-06-24	2001-11-09	ENSG00000185000	ENSG00000185000	2.3.1.20		2843	protein-coding gene	gene with protein product		604900	"""diacylglycerol O-acyltransferase homolog 1 (mouse)"""			9756920	Standard	NM_012079		Approved	ARGP1, DGAT	uc003zbv.3	O75907	OTTHUMG00000174606	ENST00000332324.4:c.1232C>T	8.37:g.145540701G>A	ENSP00000332258:p.Ser411Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RWQ2|D3DWL6|Q96BB8	Missense_Mutation	SNP	pfam_MBOAT_fam,superfamily_PEP-util_enz_mobile_dom	p.S411L	ENST00000332324.4	37	c.1232	CCDS6420.1	8	.	.	.	.	.	.	.	.	.	.	G	29.9	5.045626	0.93685	.	.	ENSG00000185000	ENST00000332324	T	0.79033	-1.23	4.55	4.55	0.56014	.	0.000000	0.85682	D	0.000000	D	0.91181	0.7222	H	0.95780	3.72	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93621	0.6948	10	0.87932	D	0	-17.1684	14.8306	0.70146	0.0:0.0:1.0:0.0	.	411	O75907	DGAT1_HUMAN	L	411	ENSP00000332258:S411L	ENSP00000332258:S411L	S	-	2	0	DGAT1	145511509	1.000000	0.71417	0.919000	0.36401	0.976000	0.68499	8.887000	0.92456	2.368000	0.80403	0.561000	0.74099	TCG	DGAT1	-	pfam_MBOAT_fam	ENSG00000185000		0.637	DGAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGAT1	HGNC	protein_coding	OTTHUMT00000382059.3	25	0.00	0	G	NM_012079		145540701	145540701	-1	no_errors	ENST00000332324	ensembl	human	known	69_37n	missense	43	17.31	9	SNP	0.967	A
DGAT2L6	347516	genome.wustl.edu	37	X	69424872	69424872	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:69424872C>T	ENST00000333026.3	+	7	1030	c.930C>T	c.(928-930)ctC>ctT	p.L310L		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	310					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						ATCACGCACTCTACATCAGTG	0.463																																						dbGAP											0													95.0	75.0	82.0					X																	69424872		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK129500	CCDS14397.1	Xq13.1	2008-02-05			ENSG00000184210	ENSG00000184210			23250	protein-coding gene	gene with protein product		300926				15671038	Standard	NM_198512		Approved	DC3, FLJ25989	uc004dxx.1	Q6ZPD8	OTTHUMG00000021774	ENST00000333026.3:c.930C>T	X.37:g.69424872C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IEE2	Silent	SNP	pfam_DAGAT	p.L310	ENST00000333026.3	37	c.930	CCDS14397.1	X																																																																																			DGAT2L6	-	pfam_DAGAT	ENSG00000184210		0.463	DGAT2L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGAT2L6	HGNC	protein_coding	OTTHUMT00000057067.1	77	0.00	0	C	NM_198512		69424872	69424872	+1	no_errors	ENST00000333026	ensembl	human	known	69_37n	silent	66	19.51	16	SNP	1.000	T
DGCR2	9993	genome.wustl.edu	37	22	19028679	19028679	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:19028679G>C	ENST00000263196.7	-	9	1535	c.1288C>G	c.(1288-1290)Cca>Gca	p.P430A	DGCR2_ENST00000545799.1_3'UTR|DGCR2_ENST00000537045.1_Missense_Mutation_p.P389A	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	430					cell adhesion (GO:0007155)|cognition (GO:0050890)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					TAGGGAGGTGGAGGGTCGTGG	0.627																																						dbGAP											0													113.0	89.0	97.0					22																	19028679		2203	4300	6503	-	-	-	SO:0001583	missense	0			D79985	CCDS33598.1, CCDS54496.1	22q11.21	2008-06-12			ENSG00000070413	ENSG00000070413			2845	protein-coding gene	gene with protein product	"""integral membrane protein DGCR2"""	600594				7655455, 8630060	Standard	NM_005137		Approved	KIAA0163, LAN, IDD, DGS-C, SEZ-12	uc002zoq.1	P98153	OTTHUMG00000150141	ENST00000263196.7:c.1288C>G	22.37:g.19028679G>C	ENSP00000263196:p.Pro430Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NIB5|A8K6K5|B5TY34|B7Z935	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,superfamily_C-type_lectin_fold,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_C-type_lectin,smart_VWF_C,pfscan_LDrepeatLR_classA_rpt,pfscan_C-type_lectin	p.P430A	ENST00000263196.7	37	c.1288	CCDS33598.1	22	.	.	.	.	.	.	.	.	.	.	G	35	5.511135	0.96386	.	.	ENSG00000070413	ENST00000537045;ENST00000263196	T;D	0.97976	0.47;-4.64	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.98620	0.9538	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.99449	1.0940	10	0.72032	D	0.01	.	20.0384	0.97572	0.0:0.0:1.0:0.0	.	386;430	B7Z3T5;P98153	.;IDD_HUMAN	A	389;430	ENSP00000440062:P389A;ENSP00000263196:P430A	ENSP00000263196:P430A	P	-	1	0	DGCR2	17408679	1.000000	0.71417	0.992000	0.48379	0.969000	0.65631	9.744000	0.98853	2.837000	0.97791	0.655000	0.94253	CCA	DGCR2	-	NULL	ENSG00000070413		0.627	DGCR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	DGCR2	HGNC	protein_coding	OTTHUMT00000316504.1	77	0.00	0	G	NM_005137		19028679	19028679	-1	no_errors	ENST00000263196	ensembl	human	known	69_37n	missense	114	22.97	34	SNP	1.000	C
DGKD	8527	genome.wustl.edu	37	2	234354333	234354333	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:234354333C>T	ENST00000264057.2	+	11	1271	c.1259C>T	c.(1258-1260)tCa>tTa	p.S420L	DGKD_ENST00000409813.3_Missense_Mutation_p.S376L	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	420	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	GGCTGGGGCTCAGCCTGCGAT	0.622																																						dbGAP											0													72.0	68.0	69.0					2																	234354333		2203	4300	6503	-	-	-	SO:0001583	missense	0			D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2851	protein-coding gene	gene with protein product	"""diglyceride kinase"""	601826	"""diacylglycerol kinase, delta (130kD)"""			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.1259C>T	2.37:g.234354333C>T	ENSP00000264057:p.Ser420Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14158|Q6PK55|Q8NG53	Nonsense_Mutation	SNP	pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom	p.Q81*	ENST00000264057.2	37	c.241	CCDS2504.1	2	.	.	.	.	.	.	.	.	.	.	C	16.67	3.187695	0.57909	.	.	ENSG00000077044	ENST00000264057;ENST00000409813	T;T	0.20738	2.05;2.05	4.51	4.51	0.55191	Diacylglycerol kinase, catalytic domain (3);	0.277119	0.30060	N	0.010511	T	0.25306	0.0615	L	0.31157	0.91	0.50632	D	0.999881	B;B;B	0.31274	0.096;0.05;0.317	B;B;B	0.41466	0.261;0.049;0.358	T	0.17289	-1.0374	10	0.87932	D	0	.	17.7858	0.88538	0.0:1.0:0.0:0.0	.	304;376;420	Q53SE4;Q16760-2;Q16760	.;.;DGKD_HUMAN	L	420;376	ENSP00000264057:S420L;ENSP00000386455:S376L	ENSP00000264057:S420L	S	+	2	0	DGKD	234019072	0.962000	0.33011	0.975000	0.42487	0.541000	0.35023	5.883000	0.69721	2.516000	0.84829	0.563000	0.77884	TCA	DGKD	-	pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom	ENSG00000077044		0.622	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKD	HGNC	protein_coding	OTTHUMT00000257072.2	44	0.00	0	C	NM_003648		234354333	234354333	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000430834	ensembl	human	known	69_37n	nonsense	39	13.33	6	SNP	0.919	T
DGKG	1608	genome.wustl.edu	37	3	185906092	185906092	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:185906092C>A	ENST00000265022.3	-	22	2533	c.1994G>T	c.(1993-1995)gGa>gTa	p.G665V	DGKG_ENST00000382164.4_Missense_Mutation_p.G626V|DGKG_ENST00000344484.4_Missense_Mutation_p.G640V|DGKG_ENST00000544847.1_Missense_Mutation_p.G606V	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	665					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)	ATTGGTGCCTCCGTACATGCT	0.527																																						dbGAP											0													145.0	127.0	133.0					3																	185906092		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.1994G>T	3.37:g.185906092C>A	ENSP00000265022:p.Gly665Val	Somatic		WXS	Illumina GAIIx	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.G665V	ENST00000265022.3	37	c.1994	CCDS3274.1	3	.	.	.	.	.	.	.	.	.	.	C	23.1	4.377912	0.82682	.	.	ENSG00000058866	ENST00000265022;ENST00000344484;ENST00000382164;ENST00000544847	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	4.44	4.44	0.53790	Diacylglycerol kinase, accessory domain (2);	0.000000	0.85682	D	0.000000	T	0.75975	0.3923	H	0.96576	3.845	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;1.0;1.0	D	0.85239	0.1037	10	0.87932	D	0	.	16.0055	0.80359	0.0:1.0:0.0:0.0	.	606;640;626;665	F5GX27;P49619-2;P49619-3;P49619	.;.;.;DGKG_HUMAN	V	665;640;626;606	ENSP00000265022:G665V;ENSP00000339777:G640V;ENSP00000371599:G626V;ENSP00000440507:G606V	ENSP00000265022:G665V	G	-	2	0	DGKG	187388786	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	7.440000	0.80464	2.307000	0.77673	0.313000	0.20887	GGA	DGKG	-	pfam_Diacylglycerol_kin_accessory,smart_Diacylglycerol_kin_accessory	ENSG00000058866		0.527	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGKG	HGNC	protein_coding	OTTHUMT00000344800.3	101	0.00	0	C			185906092	185906092	-1	no_errors	ENST00000265022	ensembl	human	known	69_37n	missense	99	39.02	64	SNP	1.000	A
DGKK	139189	genome.wustl.edu	37	X	50122992	50122992	+	RNA	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:50122992C>G	ENST00000376025.2	-	0	2800							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					CAAATGCACTCGTTCTTCCAG	0.473																																						dbGAP											0													138.0	120.0	125.0					X																	50122992		1863	4104	5967	-	-	-			0			AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50122992C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP91	RNA	SNP	-	NULL	ENST00000376025.2	37	NULL		X																																																																																			DGKK	-	-	ENSG00000204466		0.473	DGKK-001	KNOWN	basic	processed_transcript	DGKK	HGNC	processed_transcript	OTTHUMT00000368187.1	156	0.00	0	C	NM_001013742		50122992	50122992	-1	no_errors	ENST00000376025	ensembl	human	known	69_37n	rna	158	15.96	30	SNP	1.000	G
DGKK	139189	genome.wustl.edu	37	X	50135375	50135375	+	RNA	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:50135375G>C	ENST00000376025.2	-	0	1727							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TCAGAGATAAGACCCAGCTCA	0.488																																						dbGAP											0													108.0	99.0	102.0					X																	50135375		2007	4170	6177	-	-	-			0			AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50135375G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP91	RNA	SNP	-	NULL	ENST00000376025.2	37	NULL		X																																																																																			DGKK	-	-	ENSG00000204466		0.488	DGKK-001	KNOWN	basic	processed_transcript	DGKK	HGNC	processed_transcript	OTTHUMT00000368187.1	77	0.00	0	G	NM_001013742		50135375	50135375	-1	no_errors	ENST00000376025	ensembl	human	known	69_37n	rna	72	21.74	20	SNP	0.822	C
DGKK	139189	genome.wustl.edu	37	X	50146136	50146136	+	RNA	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:50146136G>A	ENST00000376025.2	-	0	1290							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					ACTGCACACTGAGAGCTGACA	0.458																																						dbGAP											0													62.0	54.0	56.0					X																	50146136		1970	4152	6122	-	-	-			0			AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50146136G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP91	RNA	SNP	-	NULL	ENST00000376025.2	37	NULL		X																																																																																			DGKK	-	-	ENSG00000204466		0.458	DGKK-001	KNOWN	basic	processed_transcript	DGKK	HGNC	processed_transcript	OTTHUMT00000368187.1	56	0.00	0	G	NM_001013742		50146136	50146136	-1	no_errors	ENST00000376025	ensembl	human	known	69_37n	rna	71	25.77	25	SNP	0.997	A
DGKZ	8525	genome.wustl.edu	37	11	46397491	46397491	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:46397491C>T	ENST00000454345.1	+	22	2690	c.2565C>T	c.(2563-2565)ctC>ctT	p.L855L	DGKZ_ENST00000528615.1_Silent_p.L445L|DGKZ_ENST00000318201.8_Silent_p.L644L|DGKZ_ENST00000395574.3_Silent_p.L633L|DGKZ_ENST00000532868.2_Silent_p.L671L|MIR4688_ENST00000577966.1_RNA|DGKZ_ENST00000421244.2_Silent_p.L667L|DGKZ_ENST00000343674.6_Silent_p.L683L|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000527911.1_Silent_p.L667L|DGKZ_ENST00000456247.2_Silent_p.L666L	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	855					blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		AGGAGCAGCTCAAGGAGGCCT	0.687																																						dbGAP											0													20.0	19.0	19.0					11																	46397491		2197	4298	6495	-	-	-	SO:0001819	synonymous_variant	0			U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"""diacylglycerol kinase, zeta 104kDa"""			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.2565C>T	11.37:g.46397491C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Silent	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L855	ENST00000454345.1	37	c.2565	CCDS41640.1	11																																																																																			DGKZ	-	NULL	ENSG00000149091		0.687	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKZ	HGNC	protein_coding	OTTHUMT00000389772.1	12	0.00	0	C	NM_001105540		46397491	46397491	+1	no_errors	ENST00000454345	ensembl	human	known	69_37n	silent	15	40.00	10	SNP	1.000	T
DHDDS	79947	genome.wustl.edu	37	1	26764700	26764700	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:26764700G>A	ENST00000236342.7	+	3	198	c.105G>A	c.(103-105)ggG>ggA	p.G35G	DHDDS_ENST00000525682.2_Silent_p.G35G|DHDDS_ENST00000531955.1_3'UTR|DHDDS_ENST00000526219.1_Silent_p.G35G|DHDDS_ENST00000427245.2_Silent_p.G35G|DHDDS_ENST00000374185.3_Silent_p.G35G|DHDDS_ENST00000360009.2_Silent_p.G35G			Q86SQ9	DHDDS_HUMAN	dehydrodolichyl diphosphate synthase	35					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	transferase activity, transferring alkyl or aryl (other than methyl) groups (GO:0016765)			breast(5)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	15		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)		TAATGGACGGGAACCGTCGCT	0.512																																						dbGAP											0													122.0	107.0	112.0					1																	26764700		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK023164	CCDS281.1, CCDS282.1, CCDS57984.1, CCDS57983.1	1p35.3	2014-01-28			ENSG00000117682	ENSG00000117682			20603	protein-coding gene	gene with protein product		608172				12591616	Standard	NM_024887		Approved	HDS, FLJ13102, DS, RP59	uc001bmk.3	Q86SQ9	OTTHUMG00000003554	ENST00000236342.7:c.105G>A	1.37:g.26764700G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z4B9|B7ZB20|D3DPK7|D3DPK8|D3DPK9|E9KL43|Q5T0A4|Q8NE90|Q9BTG5|Q9BTK3|Q9H905	Silent	SNP	pfam_UPP_synth-like,superfamily_UPP_synth-like,tigrfam_UPP_synth-like	p.G35	ENST00000236342.7	37	c.105	CCDS282.1	1																																																																																			DHDDS	-	pfam_UPP_synth-like,superfamily_UPP_synth-like,tigrfam_UPP_synth-like	ENSG00000117682		0.512	DHDDS-011	KNOWN	basic|appris_candidate|CCDS	protein_coding	DHDDS	HGNC	protein_coding	OTTHUMT00000392504.1	66	0.00	0	G	NM_024887		26764700	26764700	+1	no_errors	ENST00000360009	ensembl	human	known	69_37n	silent	64	21.95	18	SNP	0.965	A
DHCR24	1718	genome.wustl.edu	37	1	55331084	55331084	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:55331084G>C	ENST00000371269.3	-	6	1010	c.912C>G	c.(910-912)ttC>ttG	p.F304L	DHCR24_ENST00000535035.1_Missense_Mutation_p.F263L|DHCR24_ENST00000537443.1_Intron	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase	304					amyloid precursor protein catabolic process (GO:0042987)|apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cholesterol biosynthetic process (GO:0006695)|male genitalia development (GO:0030539)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|oxidation-reduction process (GO:0055114)|plasminogen activation (GO:0031639)|protein localization (GO:0008104)|Ras protein signal transduction (GO:0007265)|regulation of neuron death (GO:1901214)|response to hormone (GO:0009725)|response to oxidative stress (GO:0006979)|skin development (GO:0043588)|small molecule metabolic process (GO:0044281)|tissue development (GO:0009888)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	delta24(24-1) sterol reductase activity (GO:0000246)|delta24-sterol reductase activity (GO:0050614)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|peptide antigen binding (GO:0042605)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						CATGCTTAAAGAACCACGGCT	0.517																																					Pancreas(39;516 1021 24601 30715 32780)	dbGAP											0													146.0	123.0	131.0					1																	55331084		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF261758	CCDS600.1	1p32.3	2008-02-05			ENSG00000116133	ENSG00000116133			2859	protein-coding gene	gene with protein product		606418				11519011	Standard	NM_014762		Approved	KIAA0018, seladin-1	uc001cyc.1	Q15392	OTTHUMG00000009989	ENST00000371269.3:c.912C>G	1.37:g.55331084G>C	ENSP00000360316:p.Phe304Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z817|D3DQ51|Q9HBA8	Missense_Mutation	SNP	pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2	p.F304L	ENST00000371269.3	37	c.912	CCDS600.1	1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.468822	0.84533	.	.	ENSG00000116133	ENST00000371269;ENST00000535035	D;D	0.94758	-3.51;-3.5	5.07	5.07	0.68467	.	0.045861	0.85682	D	0.000000	D	0.94725	0.8298	M	0.86268	2.805	0.80722	D	1	P;D	0.53885	0.907;0.963	B;P	0.47118	0.42;0.538	D	0.93742	0.7051	10	0.42905	T	0.14	-31.4692	9.5826	0.39497	0.1559:0.0:0.8441:0.0	.	263;304	B7Z817;Q15392	.;DHC24_HUMAN	L	304;263	ENSP00000360316:F304L;ENSP00000440191:F263L	ENSP00000360316:F304L	F	-	3	2	DHCR24	55103672	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.462000	0.66707	2.518000	0.84900	0.655000	0.94253	TTC	DHCR24	-	NULL	ENSG00000116133		0.517	DHCR24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHCR24	HGNC	protein_coding	OTTHUMT00000027680.1	110	0.00	0	G	NM_014762		55331084	55331084	-1	no_errors	ENST00000371269	ensembl	human	known	69_37n	missense	89	18.35	20	SNP	1.000	C
DHPS	1725	genome.wustl.edu	37	19	12791093	12791093	+	Missense_Mutation	SNP	G	G	A	rs1050609		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:12791093G>A	ENST00000210060.7	-	2	389	c.254C>T	c.(253-255)gCg>gTg	p.A85V	DHPS_ENST00000599481.1_5'UTR|DHPS_ENST00000594424.1_Missense_Mutation_p.A43V|CTD-2192J16.26_ENST00000593554.1_lincRNA|DHPS_ENST00000351660.5_Missense_Mutation_p.A85V	NM_001930.3	NP_001921.1	P49366	DHYS_HUMAN	deoxyhypusine synthase	85				A -> G (in Ref. 3; AAB02175/AAB02179). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|deoxyhypusine biosynthetic process from spermidine (GO:0050983)|glucose homeostasis (GO:0042593)|peptidyl-lysine modification to peptidyl-hypusine (GO:0008612)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell proliferation (GO:0042102)|post-translational protein modification (GO:0043687)|protein homotetramerization (GO:0051289)|translation (GO:0006412)	cytosol (GO:0005829)	deoxyhypusine synthase activity (GO:0034038)			central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8						GGTCAGGTCCGCGTGCTGGTC	0.537																																						dbGAP											0													200.0	178.0	185.0					19																	12791093		2203	4300	6503	-	-	-	SO:0001583	missense	0			U79262	CCDS12276.1, CCDS12277.1, CCDS59354.1	19p13.2	2011-11-24			ENSG00000095059	ENSG00000095059			2869	protein-coding gene	gene with protein product	"""migration-inducing gene 13"""	600944				7673224	Standard	NM_001930		Approved	MIG13	uc002muh.2	P49366		ENST00000210060.7:c.254C>T	19.37:g.12791093G>A	ENSP00000210060:p.Ala85Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K688|M0R1I5|Q13184|Q13276|Q9UDG0	Missense_Mutation	SNP	pfam_Deoxyhypusine_synthase,tigrfam_Deoxyhypusine_synthase	p.A85V	ENST00000210060.7	37	c.254	CCDS12276.1	19	.	.	.	.	.	.	.	.	.	.	G	10.51	1.369508	0.24771	.	.	ENSG00000095059	ENST00000210060;ENST00000351660	T;T	0.42900	0.96;0.96	5.3	-1.11	0.09840	.	0.896444	0.09630	N	0.776429	T	0.20210	0.0486	N	0.12182	0.205	0.09310	N	1	B;B;B	0.15473	0.005;0.002;0.013	B;B;B	0.08055	0.003;0.003;0.002	T	0.20438	-1.0275	10	0.27785	T	0.31	-2.2427	4.915	0.13842	0.161:0.0:0.4253:0.4137	.	85;85;85	Q5J8M5;P49366-2;P49366	.;.;DHYS_HUMAN	V	85	ENSP00000210060:A85V;ENSP00000221303:A85V	ENSP00000210060:A85V	A	-	2	0	DHPS	12652093	0.004000	0.15560	0.093000	0.20910	0.830000	0.47004	1.435000	0.34969	-0.050000	0.13356	0.561000	0.74099	GCG	DHPS	-	pfam_Deoxyhypusine_synthase,tigrfam_Deoxyhypusine_synthase	ENSG00000095059		0.537	DHPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHPS	HGNC	protein_coding	OTTHUMT00000462708.1	127	0.00	0	G	NM_001930		12791093	12791093	-1	no_errors	ENST00000210060	ensembl	human	known	69_37n	missense	103	24.82	34	SNP	0.002	A
DHRSX	207063	genome.wustl.edu	37	X	2184966	2184966	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:2184966C>T	ENST00000334651.5	-	5	463	c.411G>A	c.(409-411)caG>caA	p.Q137Q	DHRSX_ENST00000464935.1_5'UTR	NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	137							oxidoreductase activity (GO:0016491)	p.Q137H(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TGGTTTTCCTCTGAGGGACCA	0.493																																						dbGAP											1	Substitution - Missense(1)	lung(1)											273.0	251.0	259.0					X																	2184966		2203	4296	6499	-	-	-	SO:0001819	synonymous_variant	0			AJ293620	CCDS35195.1	Xp22.33 and Yp11.2	2014-05-07	2003-09-12		ENSG00000169084	ENSG00000169084		"""Pseudoautosomal regions / PAR1"""	18399	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 6"", ""short chain dehydrogenase/reductase family 46C, member 1"", ""dehydrogenase/reductase (SDR family) Y-linked"""		"""dehydrogenase/reductase (SDR family) X chromosome"""			11731500, 19027726	Standard	NM_145177		Approved	DHRS5X, DHRSXY, DHRSY, DHRS5Y, SDR46C1, SDR7C6	uc004cqf.4	Q8N5I4	OTTHUMG00000021068	ENST00000334651.5:c.411G>A	X.37:g.2184966C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UWC7|Q8WUS4|Q96GR8|Q9NTF6	Silent	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH	p.Q137	ENST00000334651.5	37	c.411	CCDS35195.1	X																																																																																			DHRSX	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase	ENSG00000169084		0.493	DHRSX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHRSX	HGNC	protein_coding	OTTHUMT00000055617.3	172	0.00	0	C	NM_145177		2184966	2184966	-1	no_errors	ENST00000334651	ensembl	human	known	69_37n	silent	200	22.78	59	SNP	1.000	T
DHX15	1665	genome.wustl.edu	37	4	24578092	24578092	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:24578092G>C	ENST00000336812.4	-	2	437	c.281C>G	c.(280-282)tCa>tGa	p.S94*		NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	94					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				AGAATGTGTTGAATGCGTTGA	0.473																																						dbGAP											0													345.0	322.0	330.0					4																	24578092		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB001636	CCDS33966.1	4p15.3	2013-05-13	2013-05-13	2003-06-20	ENSG00000109606	ENSG00000109606		"""DEAH-boxes"""	2738	protein-coding gene	gene with protein product		603403	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 15"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 15"""	DDX15		9388478	Standard	NM_001358		Approved	HRH2, DBP1, PRP43, PrPp43p, PRPF43	uc003gqx.3	O43143	OTTHUMG00000160304	ENST00000336812.4:c.281C>G	4.37:g.24578092G>C	ENSP00000336741:p.Ser94*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NQT7	Nonsense_Mutation	SNP	pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S94*	ENST00000336812.4	37	c.281	CCDS33966.1	4	.	.	.	.	.	.	.	.	.	.	G	13.43	2.235279	0.39498	.	.	ENSG00000109606	ENST00000336812;ENST00000535946	.	.	.	5.07	5.07	0.68467	.	0.000000	0.52532	D	0.000078	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-29.3449	14.3391	0.66614	0.0:0.0:1.0:0.0	.	.	.	.	X	94;83	.	ENSP00000336741:S94X	S	-	2	0	DHX15	24187190	0.996000	0.38824	0.876000	0.34364	0.333000	0.28666	3.349000	0.52217	2.519000	0.84933	0.467000	0.42956	TCA	DHX15	-	NULL	ENSG00000109606		0.473	DHX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX15	HGNC	protein_coding	OTTHUMT00000360143.1	239	0.00	0	G	NM_001358		24578092	24578092	-1	no_errors	ENST00000336812	ensembl	human	known	69_37n	nonsense	171	22.27	49	SNP	0.955	C
DHX34	9704	genome.wustl.edu	37	19	47856605	47856605	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:47856605C>T	ENST00000328771.4	+	2	667	c.318C>T	c.(316-318)atC>atT	p.I106I		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	106					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		GTTACCGCATCAACCTCTCTG	0.632																																						dbGAP											0													106.0	102.0	103.0					19																	47856605		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"""DEAH-boxes"""	16719	protein-coding gene	gene with protein product		615475	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"""	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.318C>T	19.37:g.47856605C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DMY8	Silent	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.I106	ENST00000328771.4	37	c.318	CCDS12700.1	19																																																																																			DHX34	-	NULL	ENSG00000134815		0.632	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX34	HGNC	protein_coding	OTTHUMT00000314313.3	36	0.00	0	C	NM_014681		47856605	47856605	+1	no_errors	ENST00000328771	ensembl	human	known	69_37n	silent	23	23.33	7	SNP	1.000	T
DHX35	60625	genome.wustl.edu	37	20	37630471	37630471	+	Missense_Mutation	SNP	C	C	G	rs201971902		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:37630471C>G	ENST00000252011.3	+	9	774	c.741C>G	c.(739-741)atC>atG	p.I247M	DHX35_ENST00000373325.2_Missense_Mutation_p.I247M|DHX35_ENST00000373323.4_Missense_Mutation_p.I216M	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	247					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				CGGTGGATATCTTTTATCTAC	0.393																																						dbGAP											0													232.0	238.0	236.0					20																	37630471		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"""DEAH-boxes"""	15861	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"""	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	ENST00000252011.3:c.741C>G	20.37:g.37630471C>G	ENSP00000252011:p.Ile247Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Missense_Mutation	SNP	pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.I247M	ENST00000252011.3	37	c.741	CCDS13310.1	20	.	.	.	.	.	.	.	.	.	.	C	16.28	3.077768	0.55753	.	.	ENSG00000101452	ENST00000373325;ENST00000252011;ENST00000373323;ENST00000441485	T;T;T;T	0.18338	2.22;2.22;2.22;2.22	5.64	1.53	0.23141	DEAD-like helicase (1);	0.132239	0.64402	D	0.000002	T	0.32466	0.0830	M	0.76938	2.355	0.58432	D	0.999993	P;P	0.42785	0.71;0.79	P;P	0.57620	0.824;0.581	T	0.02789	-1.1110	10	0.72032	D	0.01	.	5.1423	0.14965	0.2527:0.5523:0.0:0.195	.	216;247	F5GXM6;Q9H5Z1	.;DHX35_HUMAN	M	247;247;216;212	ENSP00000362422:I247M;ENSP00000252011:I247M;ENSP00000362420:I216M;ENSP00000414630:I212M	ENSP00000252011:I247M	I	+	3	3	DHX35	37063885	0.991000	0.36638	0.999000	0.59377	0.939000	0.58152	0.324000	0.19610	0.128000	0.18479	-1.108000	0.02087	ATC	DHX35	-	smart_Helicase_ATP-bd	ENSG00000101452		0.393	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX35	HGNC	protein_coding	OTTHUMT00000079212.2	169	0.00	0	C	NM_021931		37630471	37630471	+1	no_errors	ENST00000252011	ensembl	human	known	69_37n	missense	207	13.03	31	SNP	1.000	G
DHX36	170506	genome.wustl.edu	37	3	153994016	153994016	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:153994016C>T	ENST00000496811.1	-	25	3051	c.2971G>A	c.(2971-2973)Gaa>Aaa	p.E991K	DHX36_ENST00000308361.6_Missense_Mutation_p.E962K|DHX36_ENST00000329463.5_Missense_Mutation_p.E977K|DHX36_ENST00000544526.1_Missense_Mutation_p.E977K	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	991					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)			GTTGCCTTTTCCTGTGTTTTG	0.453																																						dbGAP											0													164.0	153.0	156.0					3																	153994016		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.2971G>A	3.37:g.153994016C>T	ENSP00000417078:p.Glu991Lys	Somatic		WXS	Illumina GAIIx	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.E991K	ENST00000496811.1	37	c.2971	CCDS3171.1	3	.	.	.	.	.	.	.	.	.	.	C	22.7	4.319348	0.81469	.	.	ENSG00000174953	ENST00000496811;ENST00000308361;ENST00000544526;ENST00000329463	T;T;T;T	0.03663	4.01;3.96;3.86;3.85	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.07143	0.0181	L	0.52126	1.63	0.58432	D	0.999998	B;B;B	0.14805	0.011;0.011;0.006	B;B;B	0.20184	0.028;0.028;0.013	T	0.23013	-1.0200	10	0.56958	D	0.05	.	19.8074	0.96536	0.0:1.0:0.0:0.0	.	977;962;991	Q9H2U1-2;Q9H2U1-3;Q9H2U1	.;.;DHX36_HUMAN	K	991;962;977;977	ENSP00000417078:E991K;ENSP00000309296:E962K;ENSP00000444247:E977K;ENSP00000330113:E977K	ENSP00000309296:E962K	E	-	1	0	DHX36	155476710	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.083000	0.76859	2.741000	0.93983	0.557000	0.71058	GAA	DHX36	-	NULL	ENSG00000174953		0.453	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX36	HGNC	protein_coding	OTTHUMT00000353349.1	135	0.00	0	C	NM_020865		153994016	153994016	-1	no_errors	ENST00000496811	ensembl	human	known	69_37n	missense	125	19.35	30	SNP	1.000	T
DHX36	170506	genome.wustl.edu	37	3	154033877	154033877	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:154033877C>T	ENST00000496811.1	-	2	399	c.319G>A	c.(319-321)Gat>Aat	p.D107N	DHX36_ENST00000308361.6_Missense_Mutation_p.D107N|DHX36_ENST00000329463.5_Missense_Mutation_p.D107N|DHX36_ENST00000544526.1_Missense_Mutation_p.D107N	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	107					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)			GACTCTTTATCATTCTTCGCT	0.363																																						dbGAP											0													129.0	118.0	122.0					3																	154033877		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.319G>A	3.37:g.154033877C>T	ENSP00000417078:p.Asp107Asn	Somatic		WXS	Illumina GAIIx	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.D107N	ENST00000496811.1	37	c.319	CCDS3171.1	3	.	.	.	.	.	.	.	.	.	.	C	16.55	3.153903	0.57259	.	.	ENSG00000174953	ENST00000496811;ENST00000308361;ENST00000544526;ENST00000329463;ENST00000481941	D;D;D;D;T	0.91945	-2.94;-2.94;-2.94;-2.94;4.08	5.78	5.78	0.91487	.	0.487586	0.23230	N	0.050463	D	0.83326	0.5230	N	0.14661	0.345	0.40266	D	0.978239	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.09377	0.004;0.002;0.001	T	0.77661	-0.2504	10	0.15066	T	0.55	.	12.1622	0.54110	0.0:0.9211:0.0:0.0789	.	107;107;107	Q9H2U1-2;Q9H2U1-3;Q9H2U1	.;.;DHX36_HUMAN	N	107;107;107;107;21	ENSP00000417078:D107N;ENSP00000309296:D107N;ENSP00000444247:D107N;ENSP00000330113:D107N;ENSP00000419862:D21N	ENSP00000309296:D107N	D	-	1	0	DHX36	155516571	1.000000	0.71417	0.976000	0.42696	0.956000	0.61745	3.565000	0.53798	2.723000	0.93209	0.637000	0.83480	GAT	DHX36	-	NULL	ENSG00000174953		0.363	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX36	HGNC	protein_coding	OTTHUMT00000353349.1	166	0.00	0	C	NM_020865		154033877	154033877	-1	no_errors	ENST00000496811	ensembl	human	known	69_37n	missense	165	19.90	41	SNP	1.000	T
DHX37	57647	genome.wustl.edu	37	12	125453191	125453191	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:125453191C>T	ENST00000308736.2	-	10	1395	c.1297G>A	c.(1297-1299)Gaa>Aaa	p.E433K	DHX37_ENST00000544745.1_Missense_Mutation_p.E220K	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	433							ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		TGCCTGGATTCCACCTGTGGG	0.582																																						dbGAP											0													75.0	74.0	74.0					12																	125453191		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"""DEAH-boxes"""	17210	protein-coding gene	gene with protein product			"""DEAD/DEAH box helicase DDX37"""	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.1297G>A	12.37:g.125453191C>T	ENSP00000311135:p.Glu433Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BUI7|Q9P211	Missense_Mutation	SNP	pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_T2SS_protein-E,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E433K	ENST00000308736.2	37	c.1297	CCDS9261.1	12	.	.	.	.	.	.	.	.	.	.	C	16.08	3.022412	0.54683	.	.	ENSG00000150990	ENST00000308736;ENST00000544745	T;T	0.02944	4.1;4.1	4.6	3.71	0.42584	DEAD-like helicase (1);	0.208209	0.49305	D	0.000145	T	0.04815	0.0130	L	0.56124	1.755	0.52501	D	0.999954	B	0.29716	0.255	B	0.32928	0.155	T	0.34179	-0.9839	10	0.56958	D	0.05	-20.8479	12.6095	0.56544	0.0:0.9175:0.0:0.0825	.	433	Q8IY37	DHX37_HUMAN	K	433;220	ENSP00000311135:E433K;ENSP00000439009:E220K	ENSP00000311135:E433K	E	-	1	0	DHX37	124019144	1.000000	0.71417	0.369000	0.25952	0.618000	0.37518	7.247000	0.78257	1.065000	0.40693	0.561000	0.74099	GAA	DHX37	-	smart_Helicase_ATP-bd	ENSG00000150990		0.582	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX37	HGNC	protein_coding		26	0.00	0	C	NM_032656		125453191	125453191	-1	no_errors	ENST00000308736	ensembl	human	known	69_37n	missense	35	25.00	12	SNP	1.000	T
DHX38	9785	genome.wustl.edu	37	16	72130173	72130173	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:72130173C>G	ENST00000268482.3	+	2	626	c.117C>G	c.(115-117)ttC>ttG	p.F39L	TXNL4B_ENST00000423037.1_5'Flank|TXNL4B_ENST00000268483.3_5'Flank|TXNL4B_ENST00000426362.2_5'Flank|DHX38_ENST00000536867.1_Missense_Mutation_p.F39L	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	39					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				AGCATGTCTTCAAGGCTCCTG	0.552																																					Melanoma(97;711 1442 7855 13832 28836)	dbGAP											0													70.0	58.0	62.0					16																	72130173		2198	4300	6498	-	-	-	SO:0001583	missense	0			AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"""DEAH-boxes"""	17211	protein-coding gene	gene with protein product		605584	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"""	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.117C>G	16.37:g.72130173C>G	ENSP00000268482:p.Phe39Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DVG8|D3DWS7|O75212|Q96HN7	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.F39L	ENST00000268482.3	37	c.117	CCDS10907.1	16	.	.	.	.	.	.	.	.	.	.	C	14.63	2.592143	0.46214	.	.	ENSG00000140829	ENST00000268482;ENST00000536867	T;T	0.19105	4.01;2.17	4.69	1.62	0.23740	.	0.000000	0.85682	D	0.000000	T	0.41351	0.1155	M	0.86268	2.805	0.22424	N	0.999114	P;P	0.49447	0.924;0.924	P;P	0.57776	0.827;0.827	T	0.26258	-1.0108	10	0.87932	D	0	.	8.9958	0.36052	0.0:0.6281:0.0:0.3719	.	39;39	B4DVG8;Q92620	.;PRP16_HUMAN	L	39	ENSP00000268482:F39L;ENSP00000437898:F39L	ENSP00000268482:F39L	F	+	3	2	DHX38	70687674	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	1.549000	0.36212	0.157000	0.19338	-0.291000	0.09656	TTC	DHX38	-	NULL	ENSG00000140829		0.552	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX38	HGNC	protein_coding	OTTHUMT00000269004.3	44	0.00	0	C	NM_014003		72130173	72130173	+1	no_errors	ENST00000268482	ensembl	human	known	69_37n	missense	27	44.90	22	SNP	1.000	G
DHX38	9785	genome.wustl.edu	37	16	72130180	72130180	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:72130180C>T	ENST00000268482.3	+	2	633	c.124C>T	c.(124-126)Cct>Tct	p.P42S	TXNL4B_ENST00000423037.1_5'Flank|TXNL4B_ENST00000268483.3_5'Flank|TXNL4B_ENST00000426362.2_5'Flank|DHX38_ENST00000536867.1_Missense_Mutation_p.P42S	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	42					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				CTTCAAGGCTCCTGCTCCCCG	0.547																																					Melanoma(97;711 1442 7855 13832 28836)	dbGAP											0													68.0	58.0	61.0					16																	72130180		2198	4300	6498	-	-	-	SO:0001583	missense	0			AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"""DEAH-boxes"""	17211	protein-coding gene	gene with protein product		605584	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"""	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.124C>T	16.37:g.72130180C>T	ENSP00000268482:p.Pro42Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DVG8|D3DWS7|O75212|Q96HN7	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.P42S	ENST00000268482.3	37	c.124	CCDS10907.1	16	.	.	.	.	.	.	.	.	.	.	C	25.0	4.596082	0.86953	.	.	ENSG00000140829	ENST00000268482;ENST00000536867	T;T	0.37752	2.76;1.18	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.59280	0.2182	M	0.68593	2.085	0.36543	D	0.871411	D;D	0.63880	0.993;0.993	D;D	0.70227	0.968;0.968	T	0.69522	-0.5123	10	0.72032	D	0.01	.	18.0135	0.89231	0.0:1.0:0.0:0.0	.	42;42	B4DVG8;Q92620	.;PRP16_HUMAN	S	42	ENSP00000268482:P42S;ENSP00000437898:P42S	ENSP00000268482:P42S	P	+	1	0	DHX38	70687681	1.000000	0.71417	0.998000	0.56505	0.918000	0.54935	7.028000	0.76470	2.314000	0.78098	0.561000	0.74099	CCT	DHX38	-	NULL	ENSG00000140829		0.547	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX38	HGNC	protein_coding	OTTHUMT00000269004.3	47	0.00	0	C	NM_014003		72130180	72130180	+1	no_errors	ENST00000268482	ensembl	human	known	69_37n	missense	45	15.09	8	SNP	1.000	T
DHX38	9785	genome.wustl.edu	37	16	72132860	72132860	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:72132860C>T	ENST00000268482.3	+	6	1308	c.799C>T	c.(799-801)Ctg>Ttg	p.L267L	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	267					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				TGACACGCCTCTGCCAACTCC	0.597																																					Melanoma(97;711 1442 7855 13832 28836)	dbGAP											0													56.0	55.0	56.0					16																	72132860		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"""DEAH-boxes"""	17211	protein-coding gene	gene with protein product		605584	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"""	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.799C>T	16.37:g.72132860C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DVG8|D3DWS7|O75212|Q96HN7	Silent	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L267	ENST00000268482.3	37	c.799	CCDS10907.1	16																																																																																			DHX38	-	NULL	ENSG00000140829		0.597	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX38	HGNC	protein_coding	OTTHUMT00000269004.3	74	0.00	0	C	NM_014003		72132860	72132860	+1	no_errors	ENST00000268482	ensembl	human	known	69_37n	silent	74	20.43	19	SNP	0.998	T
DHX8	1659	genome.wustl.edu	37	17	41570317	41570317	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:41570317C>G	ENST00000262415.3	+	6	844	c.772C>G	c.(772-774)Cct>Gct	p.P258A	DHX8_ENST00000540306.1_Missense_Mutation_p.P258A	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	258					ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		GGACCGCCCTCCTCCAGAAGA	0.517																																					NSCLC(56;1548 1661 49258 49987)	dbGAP											0													115.0	112.0	113.0					17																	41570317		2203	4300	6503	-	-	-	SO:0001583	missense	0			D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"""DEAH-boxes"""	2749	protein-coding gene	gene with protein product		600396	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"""	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.772C>G	17.37:g.41570317C>G	ENSP00000262415:p.Pro258Ala	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.P258A	ENST00000262415.3	37	c.772	CCDS11464.1	17	.	.	.	.	.	.	.	.	.	.	C	15.12	2.737888	0.49045	.	.	ENSG00000067596	ENST00000540306;ENST00000262415	T;T	0.03004	4.08;4.09	5.33	5.33	0.75918	.	0.055748	0.64402	D	0.000001	T	0.03178	0.0093	N	0.17082	0.46	0.80722	D	1	B;B	0.18610	0.013;0.029	B;B	0.17098	0.017;0.01	T	0.48198	-0.9056	10	0.08599	T	0.76	.	18.0091	0.89218	0.0:1.0:0.0:0.0	.	258;258	F5H658;Q14562	.;DHX8_HUMAN	A	258	ENSP00000437886:P258A;ENSP00000262415:P258A	ENSP00000262415:P258A	P	+	1	0	DHX8	38925843	1.000000	0.71417	1.000000	0.80357	0.728000	0.41692	7.425000	0.80255	2.489000	0.83994	0.591000	0.81541	CCT	DHX8	-	NULL	ENSG00000067596		0.517	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX8	HGNC	protein_coding	OTTHUMT00000453485.1	64	0.00	0	C			41570317	41570317	+1	no_errors	ENST00000262415	ensembl	human	known	69_37n	missense	42	27.59	16	SNP	1.000	G
DHX8	1659	genome.wustl.edu	37	17	41585183	41585183	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:41585183C>T	ENST00000262415.3	+	15	2188	c.2116C>T	c.(2116-2118)Cag>Tag	p.Q706*	DHX8_ENST00000540306.1_Nonsense_Mutation_p.Q706*	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	706	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		TCAGACAGTTCAGAAACGGCA	0.443																																					NSCLC(56;1548 1661 49258 49987)	dbGAP											0													104.0	101.0	102.0					17																	41585183		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"""DEAH-boxes"""	2749	protein-coding gene	gene with protein product		600396	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"""	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.2116C>T	17.37:g.41585183C>T	ENSP00000262415:p.Gln706*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q706*	ENST00000262415.3	37	c.2116	CCDS11464.1	17	.	.	.	.	.	.	.	.	.	.	C	38	7.114587	0.98074	.	.	ENSG00000067596	ENST00000540306;ENST00000262415	.	.	.	6.08	6.08	0.98989	.	0.222920	0.47455	D	0.000239	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.6603	0.95864	0.0:1.0:0.0:0.0	.	.	.	.	X	706	.	ENSP00000262415:Q706X	Q	+	1	0	DHX8	38940709	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.689000	0.61723	2.894000	0.99253	0.591000	0.81541	CAG	DHX8	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000067596		0.443	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX8	HGNC	protein_coding	OTTHUMT00000453485.1	61	0.00	0	C			41585183	41585183	+1	no_errors	ENST00000262415	ensembl	human	known	69_37n	nonsense	43	35.82	24	SNP	1.000	T
DHX9	1660	genome.wustl.edu	37	1	182853767	182853767	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:182853767C>T	ENST00000367549.3	+	27	3390	c.3280C>T	c.(3280-3282)Cat>Tat	p.H1094Y	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	1094					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						GCAAATATCTCATGAAGCTGC	0.433																																					Colon(69;210 1162 3697 13559 39565)	dbGAP											0													61.0	57.0	58.0					1																	182853767		1938	4155	6093	-	-	-	SO:0001583	missense	0			L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.3280C>T	1.37:g.182853767C>T	ENSP00000356520:p.His1094Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	pfam_Ds-RNA-bd,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Ds-RNA-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Ds-RNA-bd	p.H1094Y	ENST00000367549.3	37	c.3280	CCDS41444.1	1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.985643	0.53934	.	.	ENSG00000135829	ENST00000367549	D	0.82255	-1.59	5.58	5.58	0.84498	.	0.053564	0.64402	D	0.000001	T	0.79185	0.4403	L	0.57536	1.79	0.58432	D	0.999996	B;P	0.35908	0.329;0.527	B;B	0.33042	0.109;0.157	T	0.76211	-0.3042	10	0.07175	T	0.84	.	19.9456	0.97181	0.0:1.0:0.0:0.0	.	373;1094	B3KU66;Q08211	.;DHX9_HUMAN	Y	1094	ENSP00000356520:H1094Y	ENSP00000356520:H1094Y	H	+	1	0	DHX9	181120390	1.000000	0.71417	0.971000	0.41717	0.696000	0.40369	6.943000	0.75934	2.782000	0.95742	0.655000	0.94253	CAT	DHX9	-	NULL	ENSG00000135829		0.433	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX9	HGNC	protein_coding	OTTHUMT00000085522.2	84	0.00	0	C	NM_030588		182853767	182853767	+1	no_errors	ENST00000367549	ensembl	human	known	69_37n	missense	98	18.33	22	SNP	1.000	T
DIDO1	11083	genome.wustl.edu	37	20	61524224	61524224	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:61524224C>T	ENST00000266070.4	-	13	3517	c.3192G>A	c.(3190-3192)caG>caA	p.Q1064Q	DIDO1_ENST00000395343.1_Silent_p.Q1064Q|DIDO1_ENST00000395335.2_Silent_p.Q1064Q|DIDO1_ENST00000395340.1_Silent_p.Q1064Q	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1064					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TTGCCACACTCTGCATGTTAA	0.448																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	dbGAP											0													145.0	122.0	130.0					20																	61524224		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.3192G>A	20.37:g.61524224C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger	p.Q1064	ENST00000266070.4	37	c.3192	CCDS33506.1	20																																																																																			DIDO1	-	pfam_SPOC_C	ENSG00000101191		0.448	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIDO1	HGNC	protein_coding	OTTHUMT00000080091.2	128	0.00	0	C	NM_080796		61524224	61524224	-1	no_errors	ENST00000266070	ensembl	human	known	69_37n	silent	134	21.18	36	SNP	0.659	T
DIDO1	11083	genome.wustl.edu	37	20	61525826	61525826	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:61525826C>G	ENST00000266070.4	-	11	2836	c.2511G>C	c.(2509-2511)ttG>ttC	p.L837F	DIDO1_ENST00000395343.1_Missense_Mutation_p.L837F|DIDO1_ENST00000395335.2_Missense_Mutation_p.L837F|DIDO1_ENST00000395340.1_Missense_Mutation_p.L837F	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	837					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TGGTGTCTTTCAACATGCTGC	0.507																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	dbGAP											0													109.0	98.0	102.0					20																	61525826		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.2511G>C	20.37:g.61525826C>G	ENSP00000266070:p.Leu837Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger	p.L837F	ENST00000266070.4	37	c.2511	CCDS33506.1	20	.	.	.	.	.	.	.	.	.	.	C	16.65	3.183309	0.57800	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335	T;T;T;T	0.16196	2.7;2.7;2.36;2.36	5.65	-1.31	0.09230	.	0.000000	0.34411	N	0.003985	T	0.31482	0.0798	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.14559	-1.0468	10	0.72032	D	0.01	-18.4673	1.968	0.03400	0.1143:0.408:0.2228:0.2549	.	837;837	Q9BTC0-1;Q9BTC0	.;DIDO1_HUMAN	F	837	ENSP00000266070:L837F;ENSP00000378752:L837F;ENSP00000378749:L837F;ENSP00000378744:L837F	ENSP00000266070:L837F	L	-	3	2	DIDO1	60996271	0.004000	0.15560	0.284000	0.24805	0.607000	0.37147	-1.378000	0.02556	-0.206000	0.10203	0.462000	0.41574	TTG	DIDO1	-	NULL	ENSG00000101191		0.507	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIDO1	HGNC	protein_coding	OTTHUMT00000080091.2	95	0.00	0	C	NM_080796		61525826	61525826	-1	no_errors	ENST00000266070	ensembl	human	known	69_37n	missense	124	17.88	27	SNP	0.940	G
DIDO1	11083	genome.wustl.edu	37	20	61542181	61542181	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:61542181C>T	ENST00000266070.4	-	3	1109	c.784G>A	c.(784-786)Gag>Aag	p.E262K	DIDO1_ENST00000370368.1_Missense_Mutation_p.E262K|DIDO1_ENST00000266071.5_Missense_Mutation_p.E262K|DIDO1_ENST00000395343.1_Missense_Mutation_p.E262K|DIDO1_ENST00000395335.2_Missense_Mutation_p.E262K|DIDO1_ENST00000395340.1_Missense_Mutation_p.E262K|DIDO1_ENST00000370371.4_Missense_Mutation_p.E262K|DIDO1_ENST00000354665.4_Missense_Mutation_p.E262K|DIDO1_ENST00000370366.1_Missense_Mutation_p.E262K	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	262					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TCGTAACCCTCACATTCAGGC	0.557																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	dbGAP											0													153.0	151.0	152.0					20																	61542181		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.784G>A	20.37:g.61542181C>T	ENSP00000266070:p.Glu262Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger	p.E262K	ENST00000266070.4	37	c.784	CCDS33506.1	20	.	.	.	.	.	.	.	.	.	.	C	22.3	4.266170	0.80358	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335;ENST00000370371;ENST00000370368;ENST00000354665;ENST00000370366;ENST00000266071	T;T;T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93	5.31	5.31	0.75309	Zinc finger, FYVE/PHD-type (1);	0.166361	0.27831	U	0.017678	T	0.66406	0.2786	M	0.80616	2.505	0.51233	D	0.999917	D;D;P;D	0.63046	0.992;0.982;0.952;0.988	P;P;P;P	0.62740	0.906;0.849;0.6;0.761	T	0.70839	-0.4763	10	0.66056	D	0.02	-46.1614	19.0077	0.92859	0.0:1.0:0.0:0.0	.	262;262;262;262	Q9BTC0-2;Q9BTC0-3;Q9BTC0-1;Q9BTC0	.;.;.;DIDO1_HUMAN	K	262	ENSP00000266070:E262K;ENSP00000378752:E262K;ENSP00000378749:E262K;ENSP00000378744:E262K;ENSP00000359397:E262K;ENSP00000359394:E262K;ENSP00000346692:E262K;ENSP00000359391:E262K;ENSP00000266071:E262K	ENSP00000266070:E262K	E	-	1	0	DIDO1	61012626	1.000000	0.71417	0.995000	0.50966	0.275000	0.26752	4.537000	0.60643	2.481000	0.83766	0.561000	0.74099	GAG	DIDO1	-	superfamily_Znf_FYVE_PHD	ENSG00000101191		0.557	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIDO1	HGNC	protein_coding	OTTHUMT00000080091.2	88	0.00	0	C	NM_080796		61542181	61542181	-1	no_errors	ENST00000266070	ensembl	human	known	69_37n	missense	104	13.33	16	SNP	1.000	T
DIO2	1734	genome.wustl.edu	37	14	80677714	80677714	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:80677714G>A	ENST00000557010.1	-	3	487	c.102C>T	c.(100-102)ctC>ctT	p.L34L	DIO2_ENST00000438257.4_Silent_p.L34L|DIO2-AS1_ENST00000553979.1_RNA|DIO2_ENST00000422005.3_Silent_p.L34L|DIO2_ENST00000557125.1_Intron|DIO2_ENST00000555750.1_Silent_p.L34L	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	34					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|selenocysteine incorporation (GO:0001514)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|thyroid hormone metabolic process (GO:0042403)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	selenium binding (GO:0008430)|thyroxine 5'-deiodinase activity (GO:0004800)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		CCACGTGCTTGAGCAGAATGA	0.567																																						dbGAP											0													42.0	43.0	43.0					14																	80677714		2020	4174	6194	-	-	-	SO:0001819	synonymous_variant	0			AF007144	CCDS45146.1, CCDS55934.1	14q24.2-q24.3	2014-05-02			ENSG00000211448	ENSG00000211448	1.97.1.10		2884	protein-coding gene	gene with protein product	"""thyroxine deiodinase, type II"", ""deiodonase-2"", ""deiodinase-2"""	601413				8755651, 10343107	Standard	NM_001007023		Approved	TXDI2, SelY	uc021rxb.1	Q92813	OTTHUMG00000171443	ENST00000557010.1:c.102C>T	14.37:g.80677714G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGK0|G3V315|Q6B0A3|Q9HCP8|Q9P1W4|Q9UDZ1	Silent	SNP	pfam_Iodothyronine_deiodinase	p.L34	ENST00000557010.1	37	c.102	CCDS45146.1	14																																																																																			DIO2	-	pfam_Iodothyronine_deiodinase	ENSG00000211448		0.567	DIO2-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	DIO2	HGNC	protein_coding	OTTHUMT00000413428.2	38	0.00	0	G			80677714	80677714	-1	no_errors	ENST00000422005	ensembl	human	known	69_37n	silent	24	25.00	8	SNP	1.000	A
DIP2B	57609	genome.wustl.edu	37	12	51100351	51100351	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:51100351G>T	ENST00000301180.5	+	21	2471	c.2437G>T	c.(2437-2439)Gat>Tat	p.D813Y		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	813						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TGGGAAAATGGATGGCTTACT	0.373																																						dbGAP											0													301.0	289.0	293.0					12																	51100351		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.2437G>T	12.37:g.51100351G>T	ENSP00000301180:p.Asp813Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.D813Y	ENST00000301180.5	37	c.2437	CCDS31799.1	12	.	.	.	.	.	.	.	.	.	.	G	24.5	4.533407	0.85812	.	.	ENSG00000066084	ENST00000301180	T	0.17854	2.25	4.11	4.11	0.48088	AMP-dependent synthetase/ligase (1);	0.049998	0.85682	D	0.000000	T	0.44329	0.1288	M	0.79475	2.455	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.50372	-0.8836	10	0.87932	D	0	-16.8265	17.6502	0.88161	0.0:0.0:1.0:0.0	.	813	Q9P265	DIP2B_HUMAN	Y	813	ENSP00000301180:D813Y	ENSP00000301180:D813Y	D	+	1	0	DIP2B	49386618	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.483000	0.97937	2.582000	0.87167	0.591000	0.81541	GAT	DIP2B	-	pfam_AMP-dep_Synth/Lig	ENSG00000066084		0.373	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DIP2B	HGNC	protein_coding	OTTHUMT00000404243.1	275	0.00	0	G	NM_173602		51100351	51100351	+1	no_errors	ENST00000301180	ensembl	human	known	69_37n	missense	256	16.07	49	SNP	1.000	T
DIP2B	57609	genome.wustl.edu	37	12	51138593	51138593	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:51138593G>C	ENST00000301180.5	+	38	4736	c.4702G>C	c.(4702-4704)Gac>Cac	p.D1568H	Y_RNA_ENST00000363558.1_RNA	NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1568						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TGACCAGTTAGACCCCATCTA	0.532																																						dbGAP											0													124.0	108.0	114.0					12																	51138593		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.4702G>C	12.37:g.51138593G>C	ENSP00000301180:p.Asp1568His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.D1568H	ENST00000301180.5	37	c.4702	CCDS31799.1	12	.	.	.	.	.	.	.	.	.	.	G	21.7	4.182244	0.78677	.	.	ENSG00000066084	ENST00000301180	T	0.25749	1.78	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.57519	0.2059	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.59590	-0.7426	10	0.62326	D	0.03	-18.6488	19.7069	0.96076	0.0:0.0:1.0:0.0	.	1568	Q9P265	DIP2B_HUMAN	H	1568	ENSP00000301180:D1568H	ENSP00000301180:D1568H	D	+	1	0	DIP2B	49424860	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.601000	0.98297	2.894000	0.99253	0.591000	0.81541	GAC	DIP2B	-	NULL	ENSG00000066084		0.532	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DIP2B	HGNC	protein_coding	OTTHUMT00000404243.1	71	0.00	0	G	NM_173602		51138593	51138593	+1	no_errors	ENST00000301180	ensembl	human	known	69_37n	missense	79	19.39	19	SNP	1.000	C
DIP2C	22982	genome.wustl.edu	37	10	327255	327255	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:327255C>G	ENST00000280886.6	-	36	4390	c.4303G>C	c.(4303-4305)Gat>Cat	p.D1435H	RNA5SP298_ENST00000364991.1_RNA	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1435						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TAGAGGGCATCATGGCGCTCT	0.527																																						dbGAP											0													99.0	80.0	87.0					10																	327255		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.4303G>C	10.37:g.327255C>G	ENSP00000280886:p.Asp1435His	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DPI5|Q5SS78	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.D1435H	ENST00000280886.6	37	c.4303	CCDS7054.1	10	.	.	.	.	.	.	.	.	.	.	C	19.26	3.793759	0.70452	.	.	ENSG00000151240	ENST00000280886;ENST00000535541	T	0.27256	1.68	6.04	6.04	0.98038	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.56572	0.1994	M	0.77313	2.365	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.56068	-0.8040	10	0.72032	D	0.01	-31.2197	20.5792	0.99380	0.0:1.0:0.0:0.0	.	1435	Q9Y2E4	DIP2C_HUMAN	H	1435;360	ENSP00000280886:D1435H	ENSP00000280886:D1435H	D	-	1	0	DIP2C	317255	1.000000	0.71417	0.841000	0.33234	0.058000	0.15608	7.818000	0.86416	2.873000	0.98535	0.561000	0.74099	GAT	DIP2C	-	pfam_AMP-dep_Synth/Lig	ENSG00000151240		0.527	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIP2C	HGNC	protein_coding	OTTHUMT00000046389.1	75	0.00	0	C	NM_014974		327255	327255	-1	no_errors	ENST00000280886	ensembl	human	known	69_37n	missense	35	32.69	17	SNP	1.000	G
DIS3L	115752	genome.wustl.edu	37	15	66613045	66613045	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:66613045C>T	ENST00000319212.4	+	9	1351	c.1301C>T	c.(1300-1302)tCa>tTa	p.S434L	DIS3L_ENST00000319194.5_Missense_Mutation_p.S351L|RP11-352G18.2_ENST00000565993.1_RNA|DIS3L_ENST00000441424.2_Silent_p.F243F	NM_001143688.1	NP_001137160.1	Q8TF46	DI3L1_HUMAN	DIS3 like exosome 3'-5' exoribonuclease	434					RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)	cytoplasmic exosome (RNase complex) (GO:0000177)	3'-5'-exoribonuclease activity (GO:0000175)|enzyme binding (GO:0019899)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AACAGTATTTCAGTTATTCCT	0.378																																						dbGAP											0													166.0	161.0	162.0					15																	66613045		2201	4299	6500	-	-	-	SO:0001583	missense	0				CCDS10214.1, CCDS45286.1	15q22.31	2014-03-05	2014-03-05		ENSG00000166938	ENSG00000166938			28698	protein-coding gene	gene with protein product		614183	"""DIS3 mitotic control homolog (S. cerevisiae)-like"""			20531386	Standard	NM_001143688		Approved	MGC4562, FLJ38088, KIAA1955, DIS3L1	uc010ujm.2	Q8TF46	OTTHUMG00000133181	ENST00000319212.4:c.1301C>T	15.37:g.66613045C>T	ENSP00000321711:p.Ser434Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N1N8|Q8WTU9|Q96CM7	Missense_Mutation	SNP	pfam_RNase_II/R,smart_RNase_II/R	p.S434L	ENST00000319212.4	37	c.1301	CCDS45286.1	15	.	.	.	.	.	.	.	.	.	.	C	8.486	0.860847	0.17178	.	.	ENSG00000166938	ENST00000319194;ENST00000319212	T;T	0.43294	0.95;0.95	5.18	3.27	0.37495	.	0.560876	0.19681	N	0.108505	T	0.39118	0.1066	M	0.71581	2.175	0.09310	N	0.999999	B;B;B	0.14438	0.006;0.01;0.01	B;B;B	0.17979	0.006;0.02;0.013	T	0.42396	-0.9454	10	0.66056	D	0.02	-3.0543	5.2728	0.15634	0.1337:0.5372:0.2532:0.0759	.	434;300;434	Q8TF46;Q8TF46-2;Q8TF46-3	DI3L1_HUMAN;.;.	L	351;434	ENSP00000321583:S351L;ENSP00000321711:S434L	ENSP00000321583:S351L	S	+	2	0	DIS3L	64400099	0.170000	0.23016	0.002000	0.10522	0.553000	0.35397	1.835000	0.39181	0.555000	0.29079	0.561000	0.74099	TCA	DIS3L	-	NULL	ENSG00000166938		0.378	DIS3L-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIS3L	HGNC	protein_coding	OTTHUMT00000382792.2	131	0.00	0	C	NM_133375		66613045	66613045	+1	no_errors	ENST00000319212	ensembl	human	known	69_37n	missense	82	24.07	26	SNP	0.004	T
DIS3L	115752	genome.wustl.edu	37	15	66615123	66615123	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:66615123C>T	ENST00000319212.4	+	10	1475	c.1425C>T	c.(1423-1425)ttC>ttT	p.F475F	DIS3L_ENST00000319194.5_Silent_p.F392F|RP11-352G18.2_ENST00000565993.1_RNA|DIS3L_ENST00000441424.2_3'UTR	NM_001143688.1	NP_001137160.1	Q8TF46	DI3L1_HUMAN	DIS3 like exosome 3'-5' exoribonuclease	475					RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)	cytoplasmic exosome (RNase complex) (GO:0000177)	3'-5'-exoribonuclease activity (GO:0000175)|enzyme binding (GO:0019899)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ATCTCGTATTCAGCATTGACC	0.453																																						dbGAP											0													134.0	117.0	122.0					15																	66615123		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0				CCDS10214.1, CCDS45286.1	15q22.31	2014-03-05	2014-03-05		ENSG00000166938	ENSG00000166938			28698	protein-coding gene	gene with protein product		614183	"""DIS3 mitotic control homolog (S. cerevisiae)-like"""			20531386	Standard	NM_001143688		Approved	MGC4562, FLJ38088, KIAA1955, DIS3L1	uc010ujm.2	Q8TF46	OTTHUMG00000133181	ENST00000319212.4:c.1425C>T	15.37:g.66615123C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N1N8|Q8WTU9|Q96CM7	Silent	SNP	pfam_RNase_II/R,smart_RNase_II/R	p.F475	ENST00000319212.4	37	c.1425	CCDS45286.1	15																																																																																			DIS3L	-	pfam_RNase_II/R,smart_RNase_II/R	ENSG00000166938		0.453	DIS3L-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIS3L	HGNC	protein_coding	OTTHUMT00000382792.2	58	0.00	0	C	NM_133375		66615123	66615123	+1	no_errors	ENST00000319212	ensembl	human	known	69_37n	silent	55	22.54	16	SNP	1.000	T
DISP1	84976	genome.wustl.edu	37	1	223178469	223178469	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:223178469G>T	ENST00000284476.6	+	8	3894	c.3730G>T	c.(3730-3732)Gaa>Taa	p.E1244*		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1244					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		CAAAAGCACTGAAAGTGACGC	0.478																																						dbGAP											0													119.0	115.0	116.0					1																	223178469		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.3730G>T	1.37:g.223178469G>T	ENSP00000284476:p.Glu1244*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Nonsense_Mutation	SNP	pfam_Patched,pfam_MMPL-typ,pfscan_SSD	p.E1244*	ENST00000284476.6	37	c.3730	CCDS1536.1	1	.	.	.	.	.	.	.	.	.	.	A	39	7.436961	0.98282	.	.	ENSG00000154309	ENST00000284476	.	.	.	5.81	0.679	0.17975	.	0.988634	0.08256	N	0.973723	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	-0.0028	5.6097	0.17398	0.5288:0.2712:0.2:0.0	.	.	.	.	X	1244	.	ENSP00000284476:E1244X	E	+	1	0	DISP1	221245092	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	1.653000	0.37323	-0.407000	0.07576	-0.381000	0.06696	GAA	DISP1	-	NULL	ENSG00000154309		0.478	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	DISP1	HGNC	protein_coding	OTTHUMT00000092512.1	58	0.00	0	G	NM_032890		223178469	223178469	+1	no_errors	ENST00000284476	ensembl	human	known	69_37n	nonsense	71	26.04	25	SNP	0.000	T
DISP1	84976	genome.wustl.edu	37	1	223178998	223178998	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:223178998G>C	ENST00000284476.6	+	8	4423	c.4259G>C	c.(4258-4260)aGa>aCa	p.R1420T		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1420					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TGTAAAAATAGAGACGTGAGC	0.483																																						dbGAP											0													80.0	77.0	78.0					1																	223178998		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.4259G>C	1.37:g.223178998G>C	ENSP00000284476:p.Arg1420Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	pfam_Patched,pfam_MMPL-typ,pfscan_SSD	p.R1420T	ENST00000284476.6	37	c.4259	CCDS1536.1	1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.773449	0.31411	.	.	ENSG00000154309	ENST00000284476	D	0.92911	-3.13	5.77	3.87	0.44632	.	0.952552	0.08887	N	0.879147	D	0.85890	0.5802	L	0.27053	0.805	0.27102	N	0.96261	B	0.02656	0.0	B	0.04013	0.001	T	0.72906	-0.4150	10	0.27082	T	0.32	-5.0114	8.5444	0.33413	0.0802:0.3136:0.6061:0.0	.	1420	Q96F81	DISP1_HUMAN	T	1420	ENSP00000284476:R1420T	ENSP00000284476:R1420T	R	+	2	0	DISP1	221245621	0.903000	0.30736	0.173000	0.22940	0.063000	0.16089	1.853000	0.39358	0.756000	0.33013	0.655000	0.94253	AGA	DISP1	-	NULL	ENSG00000154309		0.483	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	DISP1	HGNC	protein_coding	OTTHUMT00000092512.1	43	0.00	0	G	NM_032890		223178998	223178998	+1	no_errors	ENST00000284476	ensembl	human	known	69_37n	missense	61	16.44	12	SNP	0.778	C
DISC1	27185	genome.wustl.edu	37	1	231830382	231830382	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:231830382C>G	ENST00000602281.1	+	2	931	c.878C>G	c.(877-879)tCt>tGt	p.S293C	DISC1_ENST00000539444.1_Missense_Mutation_p.S293C|DISC1_ENST00000535983.1_Missense_Mutation_p.S293C|TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000537876.1_Missense_Mutation_p.S293C|DISC1_ENST00000366636.4_Missense_Mutation_p.S293C|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000317586.4_Missense_Mutation_p.S293C|DISC1_ENST00000366633.3_Missense_Mutation_p.S293C|DISC1_ENST00000439617.2_Missense_Mutation_p.S293C	NM_001164542.1|NM_001164544.1	NP_001158014.1|NP_001158016.1	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	293	Interaction with TRAF3IP1.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				GACATGCATTCTTTACCAGAC	0.607																																						dbGAP											0													60.0	62.0	61.0					1																	231830382		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF222980	CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1	1q42.1	2008-02-05			ENSG00000162946	ENSG00000162946			2888	protein-coding gene	gene with protein product		605210				10814723	Standard	NM_001164550		Approved		uc010pxh.2	Q9NRI5	OTTHUMG00000037835	ENST00000602281.1:c.878C>G	1.37:g.231830382C>G	ENSP00000473425:p.Ser293Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Missense_Mutation	SNP	superfamily_Prefoldin	p.S293C	ENST00000602281.1	37	c.878	CCDS59205.1	1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.625158	0.46840	.	.	ENSG00000162946	ENST00000439617;ENST00000366637;ENST00000317586;ENST00000366636;ENST00000366638;ENST00000532576;ENST00000535983;ENST00000537876;ENST00000366633;ENST00000539444;ENST00000295051;ENST00000535944;ENST00000366632	T;T;T;T;T;T;T;T;T	0.32753	2.42;1.44;2.25;2.24;2.08;2.41;2.1;2.09;2.05	4.94	4.02	0.46733	.	0.978810	0.08442	N	0.945345	T	0.50871	0.1641	L	0.58101	1.795	0.09310	N	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.998;0.999;1.0;0.999;0.999;1.0;0.999;0.999;0.999;0.999;0.999;0.997;1.0;0.999;0.999;0.999;1.0;0.999;0.999;0.999;0.999	P;D;D;D;D;D;D;D;D;D;D;P;D;D;D;D;D;D;D;D;D	0.70935	0.874;0.935;0.964;0.947;0.935;0.964;0.935;0.935;0.935;0.935;0.958;0.847;0.971;0.935;0.935;0.935;0.964;0.935;0.935;0.935;0.958	T	0.28681	-1.0036	10	0.54805	T	0.06	0.1033	10.1519	0.42799	0.0:0.907:0.0:0.093	.	293;293;293;293;293;293;293;293;293;293;293;293;293;293;293;293;293;293;293;293;293	C4P094;C4P0A3;C4P098;C4P0A1;C4P0A4;A6NLH2;C4P0A5;C4P095;C4P0B6;C4P0C4;C4P091;C4P0D2;C4P0D3;C4P0B1;A7E2W8;Q5T409;C4P0D0;Q9NRI5-2;Q9NRI5;Q9NRI5-3;Q9NRI5-4	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;DISC1_HUMAN;.;.	C	293;293;293;293;293;293;293;293;293;293;293;293;144	ENSP00000403888:S293C;ENSP00000320784:S293C;ENSP00000355596:S293C;ENSP00000443996:S293C;ENSP00000440909:S293C;ENSP00000355593:S293C;ENSP00000440953:S293C;ENSP00000295051:S293C;ENSP00000441193:S293C	ENSP00000295051:S293C	S	+	2	0	DISC1	229897005	0.010000	0.17322	0.001000	0.08648	0.002000	0.02628	2.605000	0.46283	1.290000	0.44636	0.561000	0.74099	TCT	DISC1	-	NULL	ENSG00000162946		0.607	DISC1-019	KNOWN	basic|appris_candidate|CCDS	protein_coding	DISC1	HGNC	protein_coding	OTTHUMT00000467451.1	38	0.00	0	C	NM_018662		231830382	231830382	+1	no_errors	ENST00000439617	ensembl	human	known	69_37n	missense	34	37.04	20	SNP	0.004	G
DKK4	27121	genome.wustl.edu	37	8	42231715	42231715	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:42231715C>T	ENST00000220812.2	-	4	764	c.578G>A	c.(577-579)cGt>cAt	p.R193H		NM_014420.2	NP_055235.1	Q9UBT3	DKK4_HUMAN	dickkopf WNT signaling pathway inhibitor 4	193	DKK-type Cys-2.				multicellular organismal development (GO:0007275)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)				NS(1)|endometrium(1)|large_intestine(7)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024)			ACAGTCGCAACGCTGGAAGAT	0.458																																						dbGAP											0													91.0	89.0	89.0					8																	42231715		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF177397	CCDS6130.1	8p11.2-p11.1	2013-05-15	2013-05-15		ENSG00000104371	ENSG00000104371			2894	protein-coding gene	gene with protein product		605417	"""dickkopf (Xenopus laevis) homolog 4"", ""dickkopf homolog 4 (Xenopus laevis)"""			10570958, 11701963	Standard	NM_014420		Approved		uc003xpb.3	Q9UBT3	OTTHUMG00000164167	ENST00000220812.2:c.578G>A	8.37:g.42231715C>T	ENSP00000220812:p.Arg193His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3KNX0|Q9Y4C3	Missense_Mutation	SNP	pfam_Dickkopf_N,pfam_Prokineticin_domain	p.R193H	ENST00000220812.2	37	c.578	CCDS6130.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.525945|5.525945	0.96431|0.96431	.|.	.|.	ENSG00000104371|ENSG00000104371	ENST00000543914|ENST00000220812	.|D	.|0.84370	.|-1.84	6.03|6.03	6.03|6.03	0.97812|0.97812	.|Prokineticin domain (2);	.|0.000000	.|0.64402	.|D	.|0.000008	.|D	.|0.92782	.|0.7705	M|M	0.79693|0.79693	2.465|2.465	0.58432|0.58432	D|D	0.999998|0.999998	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	.|D	.|0.92518	.|0.6022	.|10	.|0.56958	.|D	.|0.05	.|-1.0323	18.0605|18.0605	0.89375|0.89375	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|193	.|Q9UBT3	.|DKK4_HUMAN	.|H	-1|193	.|ENSP00000220812:R193H	.|ENSP00000220812:R193H	.|R	-|-	.|2	.|0	DKK4|DKK4	42350872|42350872	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.935000|0.935000	0.57460|0.57460	4.618000|4.618000	0.61211|0.61211	2.854000|2.854000	0.98071|0.98071	0.655000|0.655000	0.94253|0.94253	.|CGT	DKK4	-	pfam_Prokineticin_domain	ENSG00000104371		0.458	DKK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DKK4	HGNC	protein_coding	OTTHUMT00000377563.1	59	0.00	0	C			42231715	42231715	-1	no_errors	ENST00000220812	ensembl	human	known	69_37n	missense	25	44.44	20	SNP	1.000	T
DLG2	1740	genome.wustl.edu	37	11	83497702	83497702	+	Nonstop_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:83497702C>G	ENST00000398301.2	-	12	1851	c.1658G>C	c.(1657-1659)tGa>tCa	p.*553S	DLG2_ENST00000531015.1_Intron|DLG2_ENST00000330014.6_Intron|DLG2_ENST00000524982.1_Intron|DLG2_ENST00000376106.3_Intron|DLG2_ENST00000280241.8_Intron|DLG2_ENST00000543673.1_Intron|DLG2_ENST00000418306.2_Intron|DLG2_ENST00000376104.2_Intron|DLG2_ENST00000532653.1_Intron|DLG2_ENST00000398309.2_Intron|DLG2_ENST00000537455.1_Intron			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				AGAGACATATCAGAACATTAT	0.393																																						dbGAP											0													74.0	69.0	70.0					11																	83497702		1919	4135	6054	-	-	-	SO:0001578	stop_lost	0			U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000398301.2:c.1658G>C	11.37:g.83497702C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Nonstop_Mutation	SNP	pfam_PDZ,pfam_PDZ_assoc,pfam_MAGUK_PEST_N,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.*553S	ENST00000398301.2	37	c.1658		11	.	.	.	.	.	.	.	.	.	.	C	10.12	1.263663	0.23136	.	.	ENSG00000150672	ENST00000398301	.	.	.	4.88	-0.0443	0.13855	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0893	0.01659	0.1658:0.4235:0.1619:0.2488	.	.	.	.	S	553	.	.	X	-	2	2	DLG2	83175350	0.000000	0.05858	0.000000	0.03702	0.334000	0.28698	-0.080000	0.11339	0.070000	0.16634	-0.175000	0.13238	TGA	DLG2	-	NULL	ENSG00000150672		0.393	DLG2-002	PUTATIVE	basic	protein_coding	DLG2	HGNC	protein_coding	OTTHUMT00000259244.2	75	0.00	0	C	NM_001364		83497702	83497702	-1	no_errors	ENST00000398301	ensembl	human	putative	69_37n	nonstop	42	33.85	22	SNP	0.000	G
DLG2	1740	genome.wustl.edu	37	11	83810051	83810051	+	Missense_Mutation	SNP	C	C	T	rs143052833		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:83810051C>T	ENST00000532653.1	-	5	651	c.349G>A	c.(349-351)Gat>Aat	p.D117N	DLG2_ENST00000531015.1_Missense_Mutation_p.D84N|DLG2_ENST00000330014.6_Missense_Mutation_p.D56N|DLG2_ENST00000524982.1_Missense_Mutation_p.D117N|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000280241.8_Missense_Mutation_p.D156N|DLG2_ENST00000543673.1_Missense_Mutation_p.D222N|DLG2_ENST00000418306.2_Missense_Mutation_p.D66N|DLG2_ENST00000376104.2_Missense_Mutation_p.D222N|DLG2_ENST00000398301.2_Missense_Mutation_p.D156N|DLG2_ENST00000398309.2_Missense_Mutation_p.D117N|DLG2_ENST00000537455.1_5'UTR			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0	L27 2. {ECO:0000255|PROSITE- ProRule:PRU00365}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TGGGGATTATCTGTCCCCCCA	0.438																																						dbGAP											0													70.0	65.0	66.0					11																	83810051		1906	4116	6022	-	-	-	SO:0001583	missense	0			U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.349G>A	11.37:g.83810051C>T	ENSP00000435849:p.Asp117Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	pfam_PDZ,pfam_Guanylate_kin,pfam_MAGUK_PEST_N,pfam_PDZ_assoc,pfam_L27_1,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,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.D222N	ENST00000532653.1	37	c.664		11	.	.	.	.	.	.	.	.	.	.	C	35	5.459180	0.96240	.	.	ENSG00000150672	ENST00000398309;ENST00000376104;ENST00000418306;ENST00000543673;ENST00000280241;ENST00000330014;ENST00000524982;ENST00000532653;ENST00000546021;ENST00000531015;ENST00000398301;ENST00000398299	T;T;T;T;T;T;T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37;1.37;1.37;1.37;1.37;1.37;1.37	5.1	5.1	0.69264	PDZ/DHR/GLGF (4);	0.000000	0.64402	D	0.000002	T	0.61123	0.2322	M	0.72576	2.205	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.99;1.0;0.999	D;D;D;D;D;D;D;D	0.97110	0.999;0.998;1.0;0.998;0.999;0.992;0.999;0.998	T	0.60840	-0.7183	9	.	.	.	.	18.8729	0.92324	0.0:1.0:0.0:0.0	.	84;117;117;56;156;222;117;66	E9PIW2;B7Z2T4;E9PN83;B7Z264;Q6ZSU2;Q15700-2;Q15700;Q15700-3	.;.;.;.;.;.;DLG2_HUMAN;.	N	117;222;66;222;156;56;117;117;222;84;156;34	ENSP00000381355:D117N;ENSP00000365272:D222N;ENSP00000402275:D66N;ENSP00000441994:D222N;ENSP00000280241:D156N;ENSP00000381353:D56N;ENSP00000432894:D117N;ENSP00000435849:D117N;ENSP00000433848:D84N;ENSP00000381346:D156N;ENSP00000381344:D34N	.	D	-	1	0	DLG2	83487699	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.445000	0.80570	2.544000	0.85801	0.561000	0.74099	GAT	DLG2	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ	ENSG00000150672		0.438	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	DLG2	HGNC	protein_coding	OTTHUMT00000259253.2	71	0.00	0	C	NM_001364		83810051	83810051	-1	no_errors	ENST00000376104	ensembl	human	known	69_37n	missense	41	26.79	15	SNP	1.000	T
DLG4	1742	genome.wustl.edu	37	17	7096884	7096884	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:7096884G>A	ENST00000399506.2	-	16	1802	c.1611C>T	c.(1609-1611)atC>atT	p.I537I	DLG4_ENST00000399510.2_Silent_p.I580I|DLG4_ENST00000302955.6_Silent_p.I534I			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	537	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|axon guidance (GO:0007411)|dendritic spine morphogenesis (GO:0060997)|establishment of protein localization (GO:0045184)|learning (GO:0007612)|locomotory exploration behavior (GO:0035641)|negative regulation of receptor internalization (GO:0002091)|nervous system development (GO:0007399)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synaptic transmission (GO:0050806)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|receptor localization to synapse (GO:0097120)|regulation of grooming behavior (GO:2000821)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vocalization behavior (GO:0071625)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|juxtaparanode region of axon (GO:0044224)|neuron projection terminus (GO:0044306)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	acetylcholine receptor binding (GO:0033130)|beta-1 adrenergic receptor binding (GO:0031697)|D1 dopamine receptor binding (GO:0031748)|ionotropic glutamate receptor binding (GO:0035255)|P2Y1 nucleotide receptor binding (GO:0031812)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein phosphatase binding (GO:0019903)|scaffold protein binding (GO:0097110)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18					Guanidine(DB00536)	CAAGGATGATGATGGGGCGAG	0.632																																						dbGAP											0													75.0	81.0	79.0					17																	7096884		2045	4183	6228	-	-	-	SO:0001819	synonymous_variant	0			U83192	CCDS45599.1, CCDS45600.1	17p13.1	2008-12-15	2001-12-04		ENSG00000132535	ENSG00000132535			2903	protein-coding gene	gene with protein product		602887				9286702	Standard	NM_001128827		Approved	PSD-95, PSD95, SAP90, SAP-90	uc010cly.3	P78352	OTTHUMG00000134327	ENST00000399506.2:c.1611C>T	17.37:g.7096884G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z1S1|G5E939|Q92941|Q9UKK8	Silent	SNP	pfam_Guanylate_kin,pfam_PDZ,pfam_PDZ_assoc,pfam_MAGUK_PEST_N,pfam_SH3_domain,pfam_SH3_2,pfam_L27_1,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.I580	ENST00000399506.2	37	c.1740		17																																																																																			DLG4	-	pfam_Guanylate_kin,superfamily_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pirsf_M-assoc_guanylate_kinase,pfscan_Guanylate_kin	ENSG00000132535		0.632	DLG4-002	KNOWN	non_canonical_TEC|not_organism_supported|basic|appris_candidate_longest	protein_coding	DLG4	HGNC	protein_coding	OTTHUMT00000259419.2	103	0.00	0	G	NM_001365		7096884	7096884	-1	no_errors	ENST00000293813	ensembl	human	known	69_37n	silent	64	18.99	15	SNP	1.000	A
DLG5	9231	genome.wustl.edu	37	10	79581386	79581386	+	Silent	SNP	G	G	C	rs200857918	byFrequency	TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:79581386G>C	ENST00000372391.2	-	15	2861	c.2856C>G	c.(2854-2856)ctC>ctG	p.L952L	DLG5_ENST00000372388.2_Intron|DLG5_ENST00000459739.1_5'Flank	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	952					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CCGTGGAGCTGAGCATGGCCT	0.582																																						dbGAP											0													21.0	20.0	20.0					10																	79581386		2200	4294	6494	-	-	-	SO:0001819	synonymous_variant	0			U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.2856C>G	10.37:g.79581386G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Silent	SNP	pfam_PDZ,pfam_DUF622,pfam_Guanylate_kin,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.L952	ENST00000372391.2	37	c.2856	CCDS7353.2	10																																																																																			DLG5	-	NULL	ENSG00000151208		0.582	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLG5	HGNC	protein_coding	OTTHUMT00000048900.2	14	0.00	0	G			79581386	79581386	-1	no_errors	ENST00000372391	ensembl	human	known	69_37n	silent	4	50.00	4	SNP	0.988	C
DLL3	10683	genome.wustl.edu	37	19	39989620	39989620	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:39989620C>T	ENST00000205143.4	+	1	13	c.6C>T	c.(4-6)gtC>gtT	p.V2V	DLL3_ENST00000356433.5_Silent_p.V2V|DLL3_ENST00000600579.1_3'UTR	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	2					compartment pattern specification (GO:0007386)|negative regulation of neurogenesis (GO:0050768)|Notch signaling pathway (GO:0007219)|paraxial mesoderm development (GO:0048339)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)	integral component of membrane (GO:0016021)	Notch binding (GO:0005112)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGGCCATGGTCTCCCCACGGA	0.632																																						dbGAP											0													104.0	87.0	93.0					19																	39989620		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF241373	CCDS12537.1, CCDS12538.1	19q13.2	2008-05-14	2001-12-03			ENSG00000090932			2909	protein-coding gene	gene with protein product		602768	"""delta (Drosophila)-like 3"""			10364530, 10742114	Standard	NM_203486		Approved	SCDO1	uc002olx.2	Q9NYJ7		ENST00000205143.4:c.6C>T	19.37:g.39989620C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	E9PFG2|Q8NBS4	Silent	SNP	pfam_EGF-like_dom,pfam_Notch_ligand_N,pfam_EGF_extracell,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.V2	ENST00000205143.4	37	c.6	CCDS12538.1	19																																																																																			DLL3	-	NULL	ENSG00000090932		0.632	DLL3-002	KNOWN	basic|CCDS	protein_coding	DLL3	HGNC	protein_coding	OTTHUMT00000464958.1	36	0.00	0	C			39989620	39989620	+1	no_errors	ENST00000205143	ensembl	human	known	69_37n	silent	24	36.84	14	SNP	0.057	T
DMC1	11144	genome.wustl.edu	37	22	38948683	38948683	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:38948683G>A	ENST00000216024.2	-	7	685	c.409C>T	c.(409-411)Cat>Tat	p.H137Y	DMC1_ENST00000428462.2_Missense_Mutation_p.H137Y	NM_007068.2	NP_008999.2	Q14565	DMC1_HUMAN	DNA meiotic recombinase 1	137					female gamete generation (GO:0007292)|male meiosis I (GO:0007141)|meiotic nuclear division (GO:0007126)|oocyte maturation (GO:0001556)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	chromosome (GO:0005694)|chromosome, telomeric region (GO:0000781)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					CAGAGGGTATGAGAAAGCTGG	0.284								Homologous recombination																														dbGAP											0													143.0	144.0	144.0					22																	38948683		2203	4300	6503	-	-	-	SO:0001583	missense	0			D63882	CCDS13973.1, CCDS63477.1	22q13.1	2013-05-02	2013-05-02		ENSG00000100206	ENSG00000100206			2927	protein-coding gene	gene with protein product		602721	"""DMC1 (dosage suppressor of mck1, yeast homolog) meiosis-specific homologous recombination"", ""DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast)"""			8602360, 8590282, 17541404	Standard	NM_007068		Approved	LIM15	uc003avz.2	Q14565	OTTHUMG00000151088	ENST00000216024.2:c.409C>T	22.37:g.38948683G>A	ENSP00000216024:p.His137Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9A2|B4DMW6|Q08AI1|Q99498|Q9UH11	Missense_Mutation	SNP	pfam_DNA_recomb/repair_Rad51_C,pfam_DNA_recomb/repair_RecA,pfam_Circ_KaiC/RadA,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_AAA+_ATPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd,pfscan_RecA_monomer-monomer_interface,tigrfam_DMC1_rcmbase	p.H137Y	ENST00000216024.2	37	c.409	CCDS13973.1	22	.	.	.	.	.	.	.	.	.	.	G	22.1	4.250529	0.80024	.	.	ENSG00000100206	ENST00000216024;ENST00000428462;ENST00000439567;ENST00000366173;ENST00000415483	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	5.39	5.39	0.77823	DNA recombination/repair protein RecA/RadB, ATP-binding domain (1);ATPase, AAA+ type, core (1);DNA recombination and repair protein Rad51, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.80706	0.4674	M	0.93763	3.455	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.995;0.997;0.998	D	0.85864	0.1412	10	0.87932	D	0	-14.2738	18.7359	0.91755	0.0:0.0:1.0:0.0	.	137;137;137	B4DMW6;Q8IYL1;Q14565	.;.;DMC1_HUMAN	Y	137	ENSP00000216024:H137Y;ENSP00000412703:H137Y;ENSP00000391385:H137Y;ENSP00000410808:H137Y	ENSP00000216024:H137Y	H	-	1	0	DMC1	37278629	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.068000	0.76748	2.517000	0.84864	0.561000	0.74099	CAT	DMC1	-	pfam_DNA_recomb/repair_Rad51_C,pfam_DNA_recomb/repair_RecA,pfam_Circ_KaiC/RadA,smart_AAA+_ATPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd,tigrfam_DMC1_rcmbase	ENSG00000100206		0.284	DMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMC1	HGNC	protein_coding	OTTHUMT00000321246.2	200	0.50	1	G	NM_007068		38948683	38948683	-1	no_errors	ENST00000216024	ensembl	human	known	69_37n	missense	211	23.83	66	SNP	1.000	A
DMD	1756	genome.wustl.edu	37	X	31697677	31697677	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:31697677C>T	ENST00000357033.4	-	53	7893	c.7687G>A	c.(7687-7689)Gaa>Aaa	p.E2563K	DMD_ENST00000541735.1_Missense_Mutation_p.E103K|DMD_ENST00000343523.2_Missense_Mutation_p.E103K|DMD_ENST00000378677.2_Missense_Mutation_p.E2559K|DMD_ENST00000359836.1_Missense_Mutation_p.E103K|DMD_ENST00000378707.3_Missense_Mutation_p.E103K|DMD_ENST00000474231.1_Missense_Mutation_p.E103K	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2563					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|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 skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCTTGTACTTCATCCCACTGA	0.363																																						dbGAP											0													148.0	122.0	130.0					X																	31697677		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.7687G>A	X.37:g.31697677C>T	ENSP00000354923:p.Glu2563Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,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.E2563K	ENST00000357033.4	37	c.7687	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	C	17.71	3.455910	0.63401	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000474231	T;T;T;T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7	5.89	5.89	0.94794	.	0.189576	0.24590	U	0.037229	T	0.49609	0.1567	L	0.46157	1.445	0.49299	D	0.999774	P;B;P;P;P;P;B;B;P;P	0.47484	0.602;0.106;0.856;0.801;0.801;0.609;0.16;0.16;0.896;0.873	P;B;P;B;B;B;B;B;B;B	0.48454	0.56;0.069;0.578;0.258;0.258;0.287;0.158;0.155;0.415;0.291	T	0.36841	-0.9731	10	0.08599	T	0.76	.	19.1253	0.93380	0.0:1.0:0.0:0.0	.	2555;2563;2559;1222;1219;103;103;103;103;103	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3	.;DMD_HUMAN;.;.;.;.;.;.;.;.	K	2555;1222;1219;259;2559;2563;103;103;2563;2440;103;103;103	ENSP00000350765:E259K;ENSP00000367948:E2559K;ENSP00000354923:E2563K;ENSP00000352894:E103K;ENSP00000340057:E103K;ENSP00000367979:E103K;ENSP00000444119:E103K;ENSP00000417123:E103K	ENSP00000340057:E103K	E	-	1	0	DMD	31607598	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.345000	0.72995	2.467000	0.83353	0.544000	0.68410	GAA	DMD	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin	ENSG00000198947		0.363	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	200	0.50	1	C	NM_004006		31697677	31697677	-1	no_errors	ENST00000357033	ensembl	human	known	69_37n	missense	162	25.69	56	SNP	1.000	T
DMD	1756	genome.wustl.edu	37	X	32382737	32382737	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:32382737C>T	ENST00000357033.4	-	36	5322	c.5116G>A	c.(5116-5118)Gag>Aag	p.E1706K	DMD_ENST00000378677.2_Missense_Mutation_p.E1702K	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1706	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|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 skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTCTTTTTCTCTGATTCATCC	0.363																																						dbGAP											0													249.0	212.0	224.0					X																	32382737		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.5116G>A	X.37:g.32382737C>T	ENSP00000354923:p.Glu1706Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,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.E1706K	ENST00000357033.4	37	c.5116	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	C	21.3	4.131169	0.77549	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.37411	1.2;1.2	5.38	5.38	0.77491	.	0.209853	0.22556	U	0.058537	T	0.48537	0.1505	M	0.66939	2.045	0.80722	D	1	P;P;P;P;P	0.45348	0.827;0.801;0.856;0.611;0.611	B;B;P;B;B	0.48454	0.442;0.438;0.578;0.19;0.19	T	0.40327	-0.9569	10	0.32370	T	0.25	.	18.3946	0.90494	0.0:1.0:0.0:0.0	.	1698;1706;1702;365;362	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	K	1698;365;362;1702;1706;1706;1583	ENSP00000367948:E1702K;ENSP00000354923:E1706K	ENSP00000354923:E1706K	E	-	1	0	DMD	32292658	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	6.264000	0.72527	2.371000	0.80710	0.538000	0.68166	GAG	DMD	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin	ENSG00000198947		0.363	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	297	0.00	0	C	NM_004006		32382737	32382737	-1	no_errors	ENST00000357033	ensembl	human	known	69_37n	missense	280	18.08	62	SNP	0.975	T
DMD	1756	genome.wustl.edu	37	X	32472826	32472826	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:32472826C>G	ENST00000357033.4	-	26	3762	c.3556G>C	c.(3556-3558)Gaa>Caa	p.E1186Q	DMD_ENST00000378677.2_Missense_Mutation_p.E1182Q	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1186					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|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 skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.E1186*(1)|p.E1181*(1)|p.E1182*(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GTTTTATATTCAAAATCTCTC	0.338																																						dbGAP											3	Substitution - Nonsense(3)	lung(3)	GRCh37	CM066781	DMD	M							115.0	108.0	110.0					X																	32472826		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.3556G>C	X.37:g.32472826C>G	ENSP00000354923:p.Glu1186Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,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.E1186Q	ENST00000357033.4	37	c.3556	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	C	13.33	2.204187	0.38905	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.34275	1.37;1.37	5.25	5.25	0.73442	.	0.000000	0.37577	U	0.002031	T	0.29620	0.0739	N	0.20986	0.625	0.80722	D	1	B;P;B	0.45240	0.376;0.854;0.43	B;B;B	0.42245	0.208;0.381;0.312	T	0.03240	-1.1057	10	0.26408	T	0.33	.	18.0127	0.89229	0.0:1.0:0.0:0.0	.	1178;1186;1182	P11532-4;P11532;E9PDN5	.;DMD_HUMAN;.	Q	1178;1182;1186;1186;1063	ENSP00000367948:E1182Q;ENSP00000354923:E1186Q	ENSP00000354923:E1186Q	E	-	1	0	DMD	32382747	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	3.845000	0.55880	2.188000	0.69820	0.594000	0.82650	GAA	DMD	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin	ENSG00000198947		0.338	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	111	0.00	0	C	NM_004006		32472826	32472826	-1	no_errors	ENST00000357033	ensembl	human	known	69_37n	missense	67	37.96	41	SNP	1.000	G
DMXL1	1657	genome.wustl.edu	37	5	118485468	118485468	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:118485468C>T	ENST00000311085.8	+	18	4026	c.3946C>T	c.(3946-3948)Cat>Tat	p.H1316Y	DMXL1_ENST00000539542.1_Missense_Mutation_p.H1316Y	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1316										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TGAAGCAGCTCATGTACTTTC	0.458																																						dbGAP											0													101.0	94.0	96.0					5																	118485468		2202	4300	6502	-	-	-	SO:0001583	missense	0			AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.3946C>T	5.37:g.118485468C>T	ENSP00000309690:p.His1316Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.H1316Y	ENST00000311085.8	37	c.3946	CCDS4125.1	5	.	.	.	.	.	.	.	.	.	.	C	13.47	2.247050	0.39697	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.41758	0.99;0.99	5.56	5.56	0.83823	.	0.042728	0.85682	D	0.000000	T	0.42200	0.1192	L	0.50919	1.6	0.53688	D	0.999978	B;B	0.26708	0.157;0.116	B;B	0.27380	0.069;0.079	T	0.16719	-1.0393	10	0.27082	T	0.32	-19.7883	19.8805	0.96895	0.0:1.0:0.0:0.0	.	1316;1316	F5H269;Q9Y485	.;DMXL1_HUMAN	Y	1316	ENSP00000309690:H1316Y;ENSP00000439479:H1316Y	ENSP00000309690:H1316Y	H	+	1	0	DMXL1	118513367	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.445000	0.80570	2.778000	0.95560	0.655000	0.94253	CAT	DMXL1	-	pfam_Rav1p_C	ENSG00000172869		0.458	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMXL1	HGNC	protein_coding	OTTHUMT00000250862.1	110	0.00	0	C	NM_005509		118485468	118485468	+1	no_errors	ENST00000539542	ensembl	human	known	69_37n	missense	92	26.40	33	SNP	1.000	T
DMXL1	1657	genome.wustl.edu	37	5	118506932	118506932	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:118506932C>A	ENST00000311085.8	+	24	6526	c.6446C>A	c.(6445-6447)tCt>tAt	p.S2149Y	DMXL1_ENST00000539542.1_Missense_Mutation_p.S2149Y	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2149										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GGTCTTGCATCTGTAAGAATG	0.363																																						dbGAP											0													61.0	62.0	61.0					5																	118506932		2202	4300	6502	-	-	-	SO:0001583	missense	0			AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.6446C>A	5.37:g.118506932C>A	ENSP00000309690:p.Ser2149Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S2149Y	ENST00000311085.8	37	c.6446	CCDS4125.1	5	.	.	.	.	.	.	.	.	.	.	C	20.8	4.057069	0.76074	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	D;D	0.81908	-1.55;-1.55	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.91456	0.7303	M	0.78456	2.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	D	0.92376	0.5909	10	0.87932	D	0	-15.6854	18.8873	0.92383	0.0:1.0:0.0:0.0	.	2149;2149	F5H269;Q9Y485	.;DMXL1_HUMAN	Y	2149	ENSP00000309690:S2149Y;ENSP00000439479:S2149Y	ENSP00000309690:S2149Y	S	+	2	0	DMXL1	118534831	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.783000	0.85696	2.465000	0.83290	0.563000	0.77884	TCT	DMXL1	-	NULL	ENSG00000172869		0.363	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMXL1	HGNC	protein_coding	OTTHUMT00000250862.1	82	0.00	0	C	NM_005509		118506932	118506932	+1	no_errors	ENST00000539542	ensembl	human	known	69_37n	missense	42	25.00	14	SNP	1.000	A
DMXL2	23312	genome.wustl.edu	37	15	51772888	51772888	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:51772888C>G	ENST00000251076.5	-	24	6702	c.6415G>C	c.(6415-6417)Gag>Cag	p.E2139Q	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.E2139Q|DMXL2_ENST00000449909.3_Missense_Mutation_p.E1503Q	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2139						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)		TCTGCATGCTCTCGTTTGGCC	0.458																																						dbGAP											0													144.0	135.0	138.0					15																	51772888		2196	4293	6489	-	-	-	SO:0001583	missense	0			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.6415G>C	15.37:g.51772888C>G	ENSP00000251076:p.Glu2139Gln	Somatic		WXS	Illumina GAIIx	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.E2139Q	ENST00000251076.5	37	c.6415	CCDS10141.1	15	.	.	.	.	.	.	.	.	.	.	C	12.70	2.015293	0.35511	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.77098	-1.07;-1.07;-1.07	5.77	5.77	0.91146	.	0.103325	0.64402	D	0.000002	T	0.63498	0.2516	N	0.19112	0.55	0.45477	D	0.998445	B;P;B;B	0.36027	0.326;0.533;0.108;0.007	B;B;B;B	0.29077	0.098;0.076;0.042;0.009	T	0.62291	-0.6885	10	0.12766	T	0.61	.	19.9981	0.97395	0.0:1.0:0.0:0.0	.	2139;1503;2139;2139	F5GWF1;B2RTR3;Q8TDJ6;B7ZMH3	.;.;DMXL2_HUMAN;.	Q	2139;2139;1503	ENSP00000251076:E2139Q;ENSP00000441858:E2139Q;ENSP00000400855:E1503Q	ENSP00000251076:E2139Q	E	-	1	0	DMXL2	49560180	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.190000	0.72057	2.729000	0.93468	0.655000	0.94253	GAG	DMXL2	-	NULL	ENSG00000104093		0.458	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DMXL2	HGNC	protein_coding	OTTHUMT00000254671.2	100	0.00	0	C	NM_015263		51772888	51772888	-1	no_errors	ENST00000543779	ensembl	human	known	69_37n	missense	53	26.39	19	SNP	1.000	G
DMXL2	23312	genome.wustl.edu	37	15	51773047	51773047	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:51773047C>T	ENST00000251076.5	-	24	6543	c.6256G>A	c.(6256-6258)Gag>Aag	p.E2086K	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.E2086K|DMXL2_ENST00000449909.3_Missense_Mutation_p.E1450K	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2086						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)		TTACATATCTCATGCAAGGCA	0.368																																						dbGAP											0													100.0	98.0	99.0					15																	51773047		2196	4293	6489	-	-	-	SO:0001583	missense	0			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.6256G>A	15.37:g.51773047C>T	ENSP00000251076:p.Glu2086Lys	Somatic		WXS	Illumina GAIIx	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.E2086K	ENST00000251076.5	37	c.6256	CCDS10141.1	15	.	.	.	.	.	.	.	.	.	.	C	9.541	1.113333	0.20795	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.77489	-1.1;-1.1;-1.1	5.77	4.85	0.62838	.	0.578452	0.20377	N	0.093539	T	0.58250	0.2109	N	0.14661	0.345	0.35488	D	0.798747	B;B;B;B	0.18968	0.001;0.032;0.0;0.001	B;B;B;B	0.17098	0.003;0.017;0.002;0.002	T	0.57688	-0.7768	10	0.10377	T	0.69	.	10.4591	0.44567	0.0:0.8556:0.0:0.1444	.	2086;1450;2086;2086	F5GWF1;B2RTR3;Q8TDJ6;B7ZMH3	.;.;DMXL2_HUMAN;.	K	2086;2086;1450	ENSP00000251076:E2086K;ENSP00000441858:E2086K;ENSP00000400855:E1450K	ENSP00000251076:E2086K	E	-	1	0	DMXL2	49560339	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.577000	0.36515	2.729000	0.93468	0.655000	0.94253	GAG	DMXL2	-	NULL	ENSG00000104093		0.368	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DMXL2	HGNC	protein_coding	OTTHUMT00000254671.2	62	0.00	0	C	NM_015263		51773047	51773047	-1	no_errors	ENST00000543779	ensembl	human	known	69_37n	missense	65	18.75	15	SNP	1.000	T
DMXL2	23312	genome.wustl.edu	37	15	51791547	51791547	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:51791547C>T	ENST00000251076.5	-	18	4161	c.3874G>A	c.(3874-3876)Gag>Aag	p.E1292K	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.E1292K|DMXL2_ENST00000449909.3_Intron	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1292						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)		ATTGCTGCCTCTTCTGCATTA	0.388																																						dbGAP											0													157.0	155.0	156.0					15																	51791547		2194	4293	6487	-	-	-	SO:0001583	missense	0			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.3874G>A	15.37:g.51791547C>T	ENSP00000251076:p.Glu1292Lys	Somatic		WXS	Illumina GAIIx	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.E1292K	ENST00000251076.5	37	c.3874	CCDS10141.1	15	.	.	.	.	.	.	.	.	.	.	C	2.967	-0.213205	0.06140	.	.	ENSG00000104093	ENST00000251076;ENST00000543779	T;T	0.21191	2.02;2.02	5.66	4.73	0.59995	.	0.494431	0.25416	N	0.030822	T	0.15046	0.0363	N	0.14661	0.345	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.02821	-1.1106	10	0.40728	T	0.16	.	16.8433	0.85973	0.0:0.8717:0.1283:0.0	.	1292;1292	F5GWF1;Q8TDJ6	.;DMXL2_HUMAN	K	1292	ENSP00000251076:E1292K;ENSP00000441858:E1292K	ENSP00000251076:E1292K	E	-	1	0	DMXL2	49578839	1.000000	0.71417	0.999000	0.59377	0.159000	0.22180	5.745000	0.68672	1.366000	0.46076	0.591000	0.81541	GAG	DMXL2	-	NULL	ENSG00000104093		0.388	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DMXL2	HGNC	protein_coding	OTTHUMT00000254671.2	50	0.00	0	C	NM_015263		51791547	51791547	-1	no_errors	ENST00000543779	ensembl	human	known	69_37n	missense	36	25.00	12	SNP	0.998	T
DNA2	1763	genome.wustl.edu	37	10	70176510	70176510	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:70176510G>C	ENST00000358410.3	-	20	3120	c.3070C>G	c.(3070-3072)Cct>Gct	p.P1024A	DNA2_ENST00000399180.2_Missense_Mutation_p.P1110A|DNA2_ENST00000399179.2_Missense_Mutation_p.P786A	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2	1024	Helicase activity. {ECO:0000250}.				ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication, Okazaki fragment processing (GO:0033567)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|mitochondrial DNA repair (GO:0043504)|mitochondrial DNA replication (GO:0006264)|mitotic cell cycle (GO:0000278)|positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|5'-flap endonuclease activity (GO:0017108)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|single-stranded DNA-dependent ATPase activity (GO:0043142)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						TCCAAAGGAGGATAGCAATTT	0.368																																						dbGAP											0													101.0	99.0	100.0					10																	70176510		1833	4092	5925	-	-	-	SO:0001583	missense	0			D42046	CCDS44415.1, CCDS44415.2	10q21.3-q22.1	2013-05-13	2013-05-13	2008-01-08	ENSG00000138346	ENSG00000138346			2939	protein-coding gene	gene with protein product		601810	"""DNA2 DNA replication helicase 2-like (yeast)"", ""DNA replication helicase 2 homolog (yeast)"""	DNA2L		8938459, 17032657, 23352259	Standard	NM_001080449		Approved	KIAA0083	uc031pvh.1	P51530	OTTHUMG00000018352	ENST00000358410.3:c.3070C>G	10.37:g.70176510G>C	ENSP00000351185:p.Pro1024Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Missense_Mutation	SNP	pfam_DNA_replication_fac_Dna2	p.P1110A	ENST00000358410.3	37	c.3328		10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.269|8.269	0.812948|0.812948	0.16537|0.16537	.|.	.|.	ENSG00000138346|ENSG00000138346	ENST00000551118;ENST00000399180;ENST00000399179;ENST00000358410|ENST00000440722	T;T;T|.	0.81163|.	-1.46;-1.46;-1.46|.	5.08|5.08	4.16|4.16	0.48862|0.48862	.|.	0.345712|.	0.30742|.	N|.	0.008979|.	T|T	0.35828|0.35828	0.0945|0.0945	L|L	0.29908|0.29908	0.895|0.895	0.22811|0.22811	N|N	0.998703|0.998703	B;B|.	0.30236|.	0.274;0.0|.	B;B|.	0.28709|.	0.093;0.0|.	T|T	0.19614|0.19614	-1.0300|-1.0300	10|5	0.36615|.	T|.	0.2|.	.|.	11.4045|11.4045	0.49889|0.49889	0.0:0.1361:0.7227:0.1412|0.0:0.1361:0.7227:0.1412	.|.	786;1024|.	F8VR31;P51530|.	.;DNA2L_HUMAN|.	A|C	786;1110;786;1024|345	ENSP00000382133:P1110A;ENSP00000382132:P786A;ENSP00000351185:P1024A|.	ENSP00000351185:P1024A|.	P|S	-|-	1|2	0|0	DNA2|DNA2	69846516|69846516	0.996000|0.996000	0.38824|0.38824	0.841000|0.841000	0.33234|0.33234	0.995000|0.995000	0.86356|0.86356	1.490000|1.490000	0.35573|0.35573	1.102000|1.102000	0.41551|0.41551	0.655000|0.655000	0.94253|0.94253	CCT|TCC	DNA2	-	NULL	ENSG00000138346		0.368	DNA2-001	KNOWN	basic|appris_principal	protein_coding	DNA2	HGNC	protein_coding	OTTHUMT00000048334.2	82	0.00	0	G			70176510	70176510	-1	no_errors	ENST00000399180	ensembl	human	known	69_37n	missense	37	24.49	12	SNP	0.924	C
DNA2	1763	genome.wustl.edu	37	10	70179628	70179628	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:70179628C>G	ENST00000358410.3	-	18	2769	c.2719G>C	c.(2719-2721)Gaa>Caa	p.E907Q	DNA2_ENST00000399180.2_Missense_Mutation_p.E993Q|DNA2_ENST00000399179.2_Missense_Mutation_p.E669Q	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2	907	Helicase activity. {ECO:0000250}.				ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication, Okazaki fragment processing (GO:0033567)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|mitochondrial DNA repair (GO:0043504)|mitochondrial DNA replication (GO:0006264)|mitotic cell cycle (GO:0000278)|positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|5'-flap endonuclease activity (GO:0017108)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|single-stranded DNA-dependent ATPase activity (GO:0043142)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						CCACCTTTTTCAACTTGTTCT	0.363																																						dbGAP											0													121.0	122.0	122.0					10																	70179628		1826	4078	5904	-	-	-	SO:0001583	missense	0			D42046	CCDS44415.1, CCDS44415.2	10q21.3-q22.1	2013-05-13	2013-05-13	2008-01-08	ENSG00000138346	ENSG00000138346			2939	protein-coding gene	gene with protein product		601810	"""DNA2 DNA replication helicase 2-like (yeast)"", ""DNA replication helicase 2 homolog (yeast)"""	DNA2L		8938459, 17032657, 23352259	Standard	NM_001080449		Approved	KIAA0083	uc031pvh.1	P51530	OTTHUMG00000018352	ENST00000358410.3:c.2719G>C	10.37:g.70179628C>G	ENSP00000351185:p.Glu907Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Missense_Mutation	SNP	pfam_DNA_replication_fac_Dna2	p.E993Q	ENST00000358410.3	37	c.2977		10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.8|22.8	4.342038|4.342038	0.81911|0.81911	.|.	.|.	ENSG00000138346|ENSG00000138346	ENST00000551118;ENST00000399180;ENST00000399179;ENST00000358410|ENST00000440722	D;D;D|.	0.92647|.	-3.06;-3.08;-3.06|.	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	0.051575|.	0.85682|.	D|.	0.000000|.	T|.	0.76765|.	0.4033|.	M|M	0.71920|0.71920	2.185|2.185	0.36577|0.36577	D|D	0.873341|0.873341	D;D|.	0.76494|.	0.999;0.966|.	D;P|.	0.83275|.	0.996;0.722|.	T|.	0.78059|.	-0.2352|.	10|.	0.23891|.	T|.	0.37|.	.|.	19.9404|19.9404	0.97159|0.97159	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	669;907|.	F8VR31;P51530|.	.;DNA2L_HUMAN|.	Q|S	669;993;669;907|228	ENSP00000382133:E993Q;ENSP00000382132:E669Q;ENSP00000351185:E907Q|.	ENSP00000351185:E907Q|.	E|X	-|-	1|2	0|2	DNA2|DNA2	69849634|69849634	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	6.302000|6.302000	0.72788|0.72788	2.810000|2.810000	0.96702|0.96702	0.585000|0.585000	0.79938|0.79938	GAA|TGA	DNA2	-	NULL	ENSG00000138346		0.363	DNA2-001	KNOWN	basic|appris_principal	protein_coding	DNA2	HGNC	protein_coding	OTTHUMT00000048334.2	116	0.00	0	C			70179628	70179628	-1	no_errors	ENST00000399180	ensembl	human	known	69_37n	missense	58	23.38	18	SNP	1.000	G
DNAAF3	352909	genome.wustl.edu	37	19	55677313	55677313	+	Silent	SNP	T	T	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:55677313T>C	ENST00000524407.2	-	3	174	c.141A>G	c.(139-141)ctA>ctG	p.L47L	snoU13_ENST00000459370.1_RNA|DNAAF3_ENST00000455045.1_5'Flank|DNAAF3_ENST00000527223.2_Silent_p.L115L|DNAAF3_ENST00000391720.4_Silent_p.L94L|CTD-2587H24.5_ENST00000591665.1_RNA			Q8N9W5	DAAF3_HUMAN	dynein, axonemal, assembly factor 3	47					axonemal dynein complex assembly (GO:0070286)|motile cilium assembly (GO:0044458)	cytoplasm (GO:0005737)											GCAGCACATCTAGCTCGGGGT	0.627											OREG0025679	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													55.0	65.0	62.0					19																	55677313		2089	4216	6305	-	-	-	SO:0001819	synonymous_variant	0			AK097388	CCDS12918.2, CCDS58679.1, CCDS58680.1, CCDS59422.1	19q13.42	2012-10-05	2012-03-09	2012-03-09	ENSG00000167646	ENSG00000167646			30492	protein-coding gene	gene with protein product		614566	"""chromosome 19 open reading frame 51"", ""ciliary dyskinesia, primary 2"""	C19orf51, CILD2		22387996	Standard	NM_001256714		Approved	FLJ40069, FLJ36139, PF22, PCD	uc002qjl.2	Q8N9W5	OTTHUMG00000128547	ENST00000524407.2:c.141A>G	19.37:g.55677313T>C		Somatic	1009	WXS	Illumina GAIIx	Phase_IV	A8MUY0|E3W9A1|E9PAX5|Q6P4F6|Q8N9W0|Q96AR2	Silent	SNP	NULL	p.L115	ENST00000524407.2	37	c.345	CCDS59422.1	19																																																																																			DNAAF3	-	NULL	ENSG00000167646		0.627	DNAAF3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	DNAAF3	HGNC	protein_coding	OTTHUMT00000250388.5	49	0.00	0	T	NM_178837		55677313	55677313	-1	no_errors	ENST00000527223	ensembl	human	known	69_37n	silent	34	15.00	6	SNP	0.962	C
DNAH1	25981	genome.wustl.edu	37	3	52406972	52406972	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:52406972G>A	ENST00000420323.2	+	44	7149	c.6888G>A	c.(6886-6888)ctG>ctA	p.L2296L		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2296	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCGATGACCTGAACATGCCGG	0.617																																						dbGAP											0													84.0	90.0	88.0					3																	52406972		2050	4183	6233	-	-	-	SO:0001819	synonymous_variant	0			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.6888G>A	3.37:g.52406972G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA	p.L2296	ENST00000420323.2	37	c.6888	CCDS46842.1	3																																																																																			DNAH1	-	NULL	ENSG00000114841		0.617	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH1	HGNC	protein_coding	OTTHUMT00000350816.1	48	0.00	0	G	NM_015512		52406972	52406972	+1	no_errors	ENST00000420323	ensembl	human	known	69_37n	silent	44	33.33	22	SNP	1.000	A
DNAH10	196385	genome.wustl.edu	37	12	124270443	124270443	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:124270443G>C	ENST00000409039.3	+	9	1223	c.1198G>C	c.(1198-1200)Gag>Cag	p.E400Q		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	400	Stem. {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)		GGAAATCGCTGAGAGAGTCTG	0.468																																						dbGAP											0													102.0	93.0	96.0					12																	124270443		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.1198G>C	12.37:g.124270443G>C	ENSP00000386770:p.Glu400Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	pfam_Dynein_heavy,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.E400Q	ENST00000409039.3	37	c.1198	CCDS9255.2	12	.	.	.	.	.	.	.	.	.	.	G	8.253	0.809484	0.16537	.	.	ENSG00000197653	ENST00000409039	T	0.55234	0.53	5.52	5.52	0.82312	Dynein heavy chain, domain-1 (1);	0.158783	0.38959	N	0.001502	T	0.45856	0.1363	L	0.46567	1.45	0.38042	D	0.935486	B	0.24132	0.098	B	0.26310	0.068	T	0.39840	-0.9594	10	0.13470	T	0.59	.	15.011	0.71550	0.0707:0.0:0.9293:0.0	.	400	Q8IVF4	DYH10_HUMAN	Q	400	ENSP00000386770:E400Q	ENSP00000386770:E400Q	E	+	1	0	DNAH10	122836396	1.000000	0.71417	0.216000	0.23742	0.076000	0.17211	6.417000	0.73337	2.750000	0.94351	0.561000	0.74099	GAG	DNAH10	-	pfam_Dynein_heavy_dom-1	ENSG00000197653		0.468	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	45	0.00	0	G			124270443	124270443	+1	no_errors	ENST00000409039	ensembl	human	known	69_37n	missense	61	17.57	13	SNP	0.943	C
DNAH10	196385	genome.wustl.edu	37	12	124398988	124398988	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:124398988G>A	ENST00000409039.3	+	60	10136	c.10111G>A	c.(10111-10113)Gac>Aac	p.D3371N		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3371					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)		GGAGTTCCGTGACGAGATGGT	0.602																																						dbGAP											0													62.0	68.0	66.0					12																	124398988		2037	4199	6236	-	-	-	SO:0001583	missense	0			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.10111G>A	12.37:g.124398988G>A	ENSP00000386770:p.Asp3371Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	pfam_Dynein_heavy,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.D3371N	ENST00000409039.3	37	c.10111	CCDS9255.2	12	.	.	.	.	.	.	.	.	.	.	G	4.915	0.170047	0.09339	.	.	ENSG00000197653	ENST00000409039	T	0.73469	-0.75	5.28	-3.23	0.05109	Dynein heavy chain, coiled coil stalk (1);	0.396945	0.27096	N	0.020942	T	0.31575	0.0801	N	0.00595	-1.35	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.47947	-0.9077	10	0.12430	T	0.62	.	7.5039	0.27534	0.4605:0.282:0.2575:0.0	.	3371	Q8IVF4	DYH10_HUMAN	N	3371	ENSP00000386770:D3371N	ENSP00000386770:D3371N	D	+	1	0	DNAH10	122964941	0.167000	0.22975	0.000000	0.03702	0.181000	0.23173	0.794000	0.26958	-0.305000	0.08831	-0.367000	0.07326	GAC	DNAH10	-	NULL	ENSG00000197653		0.602	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	45	0.00	0	G			124398988	124398988	+1	no_errors	ENST00000409039	ensembl	human	known	69_37n	missense	50	12.28	7	SNP	0.000	A
DNAH10	196385	genome.wustl.edu	37	12	124415059	124415059	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:124415059C>T	ENST00000409039.3	+	72	12394	c.12369C>T	c.(12367-12369)ttC>ttT	p.F4123F	DNAH10OS_ENST00000514254.2_3'UTR|CCDC92_ENST00000544798.1_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4123					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)		CATTCCACTTCTTCCGGAACA	0.453																																						dbGAP											0													61.0	61.0	61.0					12																	124415059		1856	4104	5960	-	-	-	SO:0001819	synonymous_variant	0			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.12369C>T	12.37:g.124415059C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	pfam_Dynein_heavy,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.F4123	ENST00000409039.3	37	c.12369	CCDS9255.2	12																																																																																			DNAH10	-	pfam_Dynein_heavy	ENSG00000197653		0.453	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	67	0.00	0	C			124415059	124415059	+1	no_errors	ENST00000409039	ensembl	human	known	69_37n	silent	78	16.13	15	SNP	1.000	T
DNAH11	8701	genome.wustl.edu	37	7	21657332	21657332	+	Silent	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:21657332C>A	ENST00000409508.3	+	23	4222	c.4191C>A	c.(4189-4191)atC>atA	p.I1397I	DNAH11_ENST00000328843.6_Silent_p.I1402I	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1402	Stem. {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)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGAGGGCCATCACAGAGTTAC	0.512									Kartagener syndrome																													dbGAP											0													56.0	56.0	56.0					7																	21657332		1942	4150	6092	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.4191C>A	7.37:g.21657332C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UJ82	Silent	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.I1402	ENST00000409508.3	37	c.4206		7																																																																																			DNAH11	-	pfam_Dynein_heavy_dom-2	ENSG00000105877		0.512	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	49	0.00	0	C	NM_003777		21657332	21657332	+1	no_errors	ENST00000328843	ensembl	human	known	69_37n	silent	30	21.05	8	SNP	0.000	A
DNAH11	8701	genome.wustl.edu	37	7	21840887	21840887	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:21840887G>C	ENST00000409508.3	+	62	10190	c.10159G>C	c.(10159-10161)Gag>Cag	p.E3387Q	DNAH11_ENST00000328843.6_Missense_Mutation_p.E3394Q	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3394	Stalk. {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)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CAAGGAACTTGAGGCAAGTTA	0.353									Kartagener syndrome																													dbGAP											0													70.0	68.0	69.0					7																	21840887		1865	4108	5973	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.10159G>C	7.37:g.21840887G>C	ENSP00000475939:p.Glu3387Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UJ82	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.E3394Q	ENST00000409508.3	37	c.10180		7	.	.	.	.	.	.	.	.	.	.	G	16.00	2.999303	0.54147	.	.	ENSG00000105877	ENST00000328843	T	0.74209	-0.82	5.92	4.99	0.66335	Dynein heavy chain, coiled coil stalk (1);	0.094876	0.64402	D	0.000001	T	0.77505	0.4140	.	.	.	0.44477	D	0.997412	P	0.48911	0.917	P	0.47941	0.562	T	0.80621	-0.1301	9	0.72032	D	0.01	.	16.233	0.82357	0.0:0.1329:0.8671:0.0	.	3394	Q96DT5	DYH11_HUMAN	Q	3394	ENSP00000330671:E3394Q	ENSP00000330671:E3394Q	E	+	1	0	DNAH11	21807412	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.906000	0.48735	2.795000	0.96236	0.655000	0.94253	GAG	DNAH11	-	NULL	ENSG00000105877		0.353	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	69	0.00	0	G	NM_003777		21840887	21840887	+1	no_errors	ENST00000328843	ensembl	human	known	69_37n	missense	38	17.39	8	SNP	0.998	C
DNAH12	201625	genome.wustl.edu	37	3	57443481	57443481	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:57443481C>G	ENST00000351747.2	-	22	3414	c.3234G>C	c.(3232-3234)cgG>cgC	p.R1078R		NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	1078	Stem. {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(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						CGTGAACACTCCGGAGCATTA	0.493																																						dbGAP											0													58.0	51.0	53.0					3																	57443481		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"""Axonemal dyneins"""	2943	protein-coding gene	gene with protein product		603340	"""dynein, axonemal, heavy polypeptide 12"", ""dynein heavy chain domain 2"", ""dynein heavy domain 2"", ""dynein, axonemal, heavy chain 12-like"", ""dynein, axonemal, heavy chain 7-like"""	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.3234G>C	3.37:g.57443481C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Silent	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.R1078	ENST00000351747.2	37	c.3234		3																																																																																			DNAH12	-	pfam_Dynein_heavy_dom-2	ENSG00000174844		0.493	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	DNAH12	HGNC	protein_coding		42	0.00	0	C	NM_178504		57443481	57443481	-1	no_errors	ENST00000351747	ensembl	human	known	69_37n	silent	49	20.97	13	SNP	0.993	G
PGS1	9489	genome.wustl.edu	37	17	76422615	76422615	+	IGR	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:76422615C>A	ENST00000262764.6	+	0	2201				DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.D4275Y|AC061992.1_ENST00000600087.1_Silent_p.I69I|DNAH17_ENST00000389840.5_Missense_Mutation_p.D4303Y	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1						cardiolipin biosynthetic process (GO:0032049)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity (GO:0008444)			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			ACCCACGTATCAGGCACGGTG	0.612																																					Esophageal Squamous(45;182 1126 10685 43198)	dbGAP											0													72.0	77.0	75.0					17																	76422615		2203	4300	6503	-	-	-	SO:0001628	intergenic_variant	0				CCDS42391.1	17q25.3	2006-02-09							30029	protein-coding gene	gene with protein product		614942				9880566	Standard	XR_243691		Approved	DKFZP762M186	uc002jvm.3	Q32NB8			17.37:g.76422615C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZA32|Q8IYK9|Q8TA85|Q96A75|Q9H7G9|Q9NPW7	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd	p.D4303Y	ENST00000262764.6	37	c.12907	CCDS42391.1	17	.	.	.	.	.	.	.	.	.	.	C	15.65	2.894922	0.52121	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.08984	3.03	5.03	3.06	0.35304	.	0.407398	0.23321	N	0.049451	T	0.26376	0.0644	M	0.91300	3.195	0.30292	N	0.79025	P	0.46457	0.878	P	0.52627	0.704	T	0.27905	-1.0060	10	0.66056	D	0.02	.	10.922	0.47169	0.0:0.8501:0.0:0.1499	.	4275	E7EUM8	.	Y	4275;4303	ENSP00000374490:D4303Y	ENSP00000300671:D4275Y	D	-	1	0	DNAH17	73934210	0.747000	0.28283	0.363000	0.25875	0.604000	0.37047	2.521000	0.45563	0.718000	0.32166	0.655000	0.94253	GAT	DNAH17	-	pfam_Dynein_heavy	ENSG00000187775		0.612	PGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH17	HGNC	protein_coding	OTTHUMT00000437301.1	41	0.00	0	C	NM_024419		76422615	76422615	-1	no_errors	ENST00000389840	ensembl	human	known	69_37n	missense	31	34.04	16	SNP	0.548	A
DNAH17	8632	genome.wustl.edu	37	17	76495140	76495140	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:76495140C>G	ENST00000585328.1	-	37	5804	c.5680G>C	c.(5680-5682)Gac>Cac	p.D1894H	RP11-559N14.5_ENST00000591373.1_RNA|DNAH17-AS1_ENST00000598378.1_5'UTR|DNAH17_ENST00000389840.5_Missense_Mutation_p.D1885H	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1885	AAA 1. {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(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TTAAACTCGTCAAAGCAGCCC	0.587																																						dbGAP											0													44.0	49.0	47.0					17																	76495140		2111	4272	6383	-	-	-	SO:0001583	missense	0			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.5680G>C	17.37:g.76495140C>G	ENSP00000465516:p.Asp1894His	Somatic		WXS	Illumina GAIIx	Phase_IV	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd	p.D1885H	ENST00000585328.1	37	c.5653		17	.	.	.	.	.	.	.	.	.	.	C	17.59	3.427919	0.62733	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.75154	-0.91	4.32	3.33	0.38152	.	.	.	.	.	D	0.91345	0.7270	H	0.99156	4.45	0.43982	D	0.99667	.	.	.	.	.	.	D	0.93242	0.6627	7	0.87932	D	0	.	12.2925	0.54827	0.0:0.9156:0.0:0.0844	.	.	.	.	H	1894;1885	ENSP00000374490:D1885H	ENSP00000300671:D1894H	D	-	1	0	DNAH17	74006735	1.000000	0.71417	0.012000	0.15200	0.688000	0.40055	7.452000	0.80683	0.916000	0.36871	0.448000	0.29417	GAC	DNAH17	-	NULL	ENSG00000187775		0.587	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	DNAH17	HGNC	protein_coding	OTTHUMT00000318962.2	51	0.00	0	C	NM_173628		76495140	76495140	-1	no_errors	ENST00000389840	ensembl	human	known	69_37n	missense	41	24.07	13	SNP	0.998	G
DNAH2	146754	genome.wustl.edu	37	17	7696522	7696522	+	Splice_Site	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:7696522G>A	ENST00000572933.1	+	48	9028	c.7568G>A	c.(7567-7569)cGa>cAa	p.R2523Q	DNAH2_ENST00000389173.2_Splice_Site_p.R2523Q			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2523	AAA 3. {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)				AAGTACATTCGAGTAAGCCTC	0.557																																						dbGAP											0													77.0	68.0	71.0					17																	7696522		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			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.7569+1G>A	17.37:g.7696522G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.R2523Q	ENST00000572933.1	37	c.7568	CCDS32551.1	17	.	.	.	.	.	.	.	.	.	.	G	9.752	1.167619	0.21621	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.35421	1.31	4.54	3.26	0.37387	ATPase, AAA+ type, core (1);	0.246860	0.31041	N	0.008368	T	0.11922	0.0290	N	0.02765	-0.5	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.08597	-1.0714	10	0.11485	T	0.65	.	4.4305	0.11525	0.3922:0.0:0.6078:0.0	.	2523	Q9P225	DYH2_HUMAN	Q	2523	ENSP00000373825:R2523Q	ENSP00000353818:R2523Q	R	+	2	0	DNAH2	7637247	1.000000	0.71417	0.966000	0.40874	0.761000	0.43186	5.187000	0.65087	1.180000	0.42898	0.626000	0.83405	CGA	DNAH2	-	pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	ENSG00000183914		0.557	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	HGNC	protein_coding	OTTHUMT00000440241.1	39	0.00	0	G	NM_020877	Missense_Mutation	7696522	7696522	+1	no_errors	ENST00000389173	ensembl	human	known	69_37n	missense	37	28.85	15	SNP	1.000	A
DNAH2	146754	genome.wustl.edu	37	17	7726791	7726791	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:7726791C>T	ENST00000572933.1	+	74	12634	c.11174C>T	c.(11173-11175)cCa>cTa	p.P3725L	DNAH2_ENST00000389173.2_Missense_Mutation_p.P3725L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3725					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)				ATGGACAATCCATGTAGTAGC	0.478																																						dbGAP											0													166.0	143.0	151.0					17																	7726791		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.11174C>T	17.37:g.7726791C>T	ENSP00000458355:p.Pro3725Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.P3725L	ENST00000572933.1	37	c.11174	CCDS32551.1	17	.	.	.	.	.	.	.	.	.	.	C	22.7	4.330266	0.81690	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.09723	2.95	5.35	5.35	0.76521	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.49304	0.1549	H	0.96889	3.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.99;0.994	T	0.67397	-0.5681	10	0.72032	D	0.01	.	17.8305	0.88680	0.0:1.0:0.0:0.0	.	3686;3725	Q9P225-2;Q9P225	.;DYH2_HUMAN	L	3686;3725	ENSP00000373825:P3725L	ENSP00000353818:P3686L	P	+	2	0	DNAH2	7667516	1.000000	0.71417	0.983000	0.44433	0.563000	0.35712	6.841000	0.75374	2.516000	0.84829	0.609000	0.83330	CCA	DNAH2	-	pfam_Dynein_heavy	ENSG00000183914		0.478	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	HGNC	protein_coding	OTTHUMT00000440241.1	64	0.00	0	C	NM_020877		7726791	7726791	+1	no_errors	ENST00000389173	ensembl	human	known	69_37n	missense	51	19.05	12	SNP	1.000	T
DNAH17	8632	genome.wustl.edu	37	17	76557921	76557921	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:76557921C>T	ENST00000585328.1	-	12	1835	c.1711G>A	c.(1711-1713)Gag>Aag	p.E571K	DNAH17_ENST00000389840.5_Missense_Mutation_p.E571K	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	571	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(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TTCCCCTCCTCGGAGGCCGCC	0.577																																						dbGAP											0													49.0	47.0	47.0					17																	76557921		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.1711G>A	17.37:g.76557921C>T	ENSP00000465516:p.Glu571Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd	p.E571K	ENST00000585328.1	37	c.1711		17	.	.	.	.	.	.	.	.	.	.	C	3.976	-0.007335	0.07773	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.57595	0.39	5.22	1.61	0.23674	.	.	.	.	.	T	0.31136	0.0787	N	0.25647	0.755	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.23547	-1.0185	9	0.07813	T	0.8	.	5.5594	0.17135	0.0:0.4218:0.3327:0.2455	.	273	Q9UFH2-4	.	K	571	ENSP00000374490:E571K	ENSP00000300671:E571K	E	-	1	0	DNAH17	74069516	0.000000	0.05858	0.000000	0.03702	0.150000	0.21749	-0.339000	0.07832	0.576000	0.29452	0.557000	0.71058	GAG	DNAH17	-	pfam_Dynein_heavy_dom-1	ENSG00000187775		0.577	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	DNAH17	HGNC	protein_coding	OTTHUMT00000318962.2	27	0.00	0	C	NM_173628		76557921	76557921	-1	no_errors	ENST00000389840	ensembl	human	known	69_37n	missense	36	30.77	16	SNP	0.000	T
DNAH3	55567	genome.wustl.edu	37	16	21151873	21151873	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:21151873G>C	ENST00000261383.3	-	5	679	c.680C>G	c.(679-681)tCt>tGt	p.S227C	DNAH3_ENST00000575491.1_5'UTR|DNAH3_ENST00000415178.1_Missense_Mutation_p.S227C	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	227	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)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GTCCGATTCAGATGGCTTCTT	0.488																																						dbGAP											0													260.0	214.0	230.0					16																	21151873		2201	4300	6501	-	-	-	SO:0001583	missense	0			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.680C>G	16.37:g.21151873G>C	ENSP00000261383:p.Ser227Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase	p.S227C	ENST00000261383.3	37	c.680	CCDS10594.1	16	.	.	.	.	.	.	.	.	.	.	G	13.71	2.317952	0.40996	.	.	ENSG00000158486	ENST00000261383;ENST00000415178;ENST00000396036	T;T	0.25085	1.82;1.95	5.07	5.07	0.68467	.	0.263749	0.33572	N	0.004765	T	0.48205	0.1487	M	0.62723	1.935	0.20764	N	0.999856	D;D	0.89917	0.993;1.0	P;D	0.67548	0.635;0.952	T	0.36792	-0.9733	10	0.59425	D	0.04	.	17.3961	0.87445	0.0:0.0:1.0:0.0	.	227;198	Q8TD57;Q8TD57-2	DYH3_HUMAN;.	C	227;227;198	ENSP00000261383:S227C;ENSP00000394245:S227C	ENSP00000261383:S227C	S	-	2	0	DNAH3	21059374	0.846000	0.29590	0.051000	0.19133	0.055000	0.15305	3.975000	0.56859	2.627000	0.88993	0.655000	0.94253	TCT	DNAH3	-	NULL	ENSG00000158486		0.488	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1	129	0.00	0	G	NM_017539		21151873	21151873	-1	no_errors	ENST00000261383	ensembl	human	known	69_37n	missense	65	54.55	78	SNP	0.096	C
DNAH6	1768	genome.wustl.edu	37	2	84821114	84821114	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:84821114G>A	ENST00000237449.6	+	16	2637	c.2629G>A	c.(2629-2631)Gaa>Aaa	p.E877K	DNAH6_ENST00000389394.3_Missense_Mutation_p.E877K|DNAH6_ENST00000398278.2_Missense_Mutation_p.E877K			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	877	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(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						GTCCAAGTTTGAAGCTTTGGA	0.348																																						dbGAP											0													108.0	102.0	104.0					2																	84821114		692	1591	2283	-	-	-	SO:0001583	missense	0			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.2629G>A	2.37:g.84821114G>A	ENSP00000237449:p.Glu877Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.E877K	ENST00000237449.6	37	c.2629	CCDS46348.1	2	.	.	.	.	.	.	.	.	.	.	G	25.4	4.636378	0.87760	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.24723	1.84;1.98;1.84	5.22	5.22	0.72569	.	.	.	.	.	T	0.30978	0.0782	L	0.45352	1.415	0.38160	D	0.939007	B	0.26577	0.153	B	0.37731	0.257	T	0.14811	-1.0459	9	0.30078	T	0.28	.	17.5504	0.87875	0.0:0.0:1.0:0.0	.	877	Q9C0G6	DYH6_HUMAN	K	877	ENSP00000374045:E877K;ENSP00000381326:E877K;ENSP00000237449:E877K	ENSP00000237449:E877K	E	+	1	0	DNAH6	84674625	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.148000	0.77389	2.399000	0.81585	0.585000	0.79938	GAA	DNAH6	-	NULL	ENSG00000115423		0.348	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	HGNC	protein_coding	OTTHUMT00000328537.2	80	0.00	0	G	NM_001370		84821114	84821114	+1	no_errors	ENST00000237449	ensembl	human	known	69_37n	missense	89	20.54	23	SNP	1.000	A
DNAH6	1768	genome.wustl.edu	37	2	84864427	84864427	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:84864427G>T	ENST00000237449.6	+	30	4755	c.4747G>T	c.(4747-4749)Gaa>Taa	p.E1583*	DNAH6_ENST00000389394.3_Nonsense_Mutation_p.E1583*|DNAH6_ENST00000398278.2_Nonsense_Mutation_p.E1583*			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	1583	AAA 1. {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(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						AGGGAGAACTGAATTGCCAGA	0.438																																						dbGAP											0													131.0	117.0	121.0					2																	84864427		692	1591	2283	-	-	-	SO:0001587	stop_gained	0			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.4747G>T	2.37:g.84864427G>T	ENSP00000237449:p.Glu1583*	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Nonsense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.E1583*	ENST00000237449.6	37	c.4747	CCDS46348.1	2	.	.	.	.	.	.	.	.	.	.	G	45	11.958136	0.99621	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	.	.	.	5.89	5.89	0.94794	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.0281	0.92941	0.0:0.0:1.0:0.0	.	.	.	.	X	1583	.	ENSP00000237449:E1583X	E	+	1	0	DNAH6	84717938	1.000000	0.71417	0.512000	0.27736	0.973000	0.67179	9.189000	0.94928	2.793000	0.96121	0.561000	0.74099	GAA	DNAH6	-	NULL	ENSG00000115423		0.438	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	HGNC	protein_coding	OTTHUMT00000328537.2	85	0.00	0	G	NM_001370		84864427	84864427	+1	no_errors	ENST00000237449	ensembl	human	known	69_37n	nonsense	87	19.44	21	SNP	1.000	T
DNAH6	1768	genome.wustl.edu	37	2	84881885	84881885	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:84881885G>C	ENST00000237449.6	+	34	5744	c.5736G>C	c.(5734-5736)tgG>tgC	p.W1912C	DNAH6_ENST00000389394.3_Missense_Mutation_p.W1912C|DNAH6_ENST00000398278.2_Missense_Mutation_p.W1912C			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	1912	AAA 2. {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(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						TTAAAACTTGGATGAAGGGTA	0.428																																						dbGAP											0													255.0	214.0	226.0					2																	84881885		692	1591	2283	-	-	-	SO:0001583	missense	0			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.5736G>C	2.37:g.84881885G>C	ENSP00000237449:p.Trp1912Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.W1912C	ENST00000237449.6	37	c.5736	CCDS46348.1	2	.	.	.	.	.	.	.	.	.	.	G	21.9	4.219048	0.79464	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	D;D;D	0.94280	-3.39;-3.39;-3.39	5.72	5.72	0.89469	.	.	.	.	.	D	0.97504	0.9183	M	0.93197	3.39	0.80722	D	1	D	0.71674	0.998	D	0.65323	0.934	D	0.98188	1.0461	9	0.87932	D	0	.	18.6303	0.91358	0.0:0.0:1.0:0.0	.	1912	Q9C0G6	DYH6_HUMAN	C	1912	ENSP00000374045:W1912C;ENSP00000381326:W1912C;ENSP00000237449:W1912C	ENSP00000237449:W1912C	W	+	3	0	DNAH6	84735396	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.843000	0.75384	2.705000	0.92388	0.637000	0.83480	TGG	DNAH6	-	NULL	ENSG00000115423		0.428	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	HGNC	protein_coding	OTTHUMT00000328537.2	131	0.00	0	G	NM_001370		84881885	84881885	+1	no_errors	ENST00000237449	ensembl	human	known	69_37n	missense	131	18.12	29	SNP	1.000	C
DNAH6	1768	genome.wustl.edu	37	2	84886262	84886262	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:84886262G>C	ENST00000237449.6	+	36	6061	c.6053G>C	c.(6052-6054)aGa>aCa	p.R2018T	DNAH6_ENST00000389394.3_Missense_Mutation_p.R2018T|DNAH6_ENST00000602588.1_Missense_Mutation_p.R39T|DNAH6_ENST00000398278.2_Missense_Mutation_p.R2018T			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	2018					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(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						ACATTTATTAGAACACAATTT	0.259																																						dbGAP											0													105.0	87.0	93.0					2																	84886262		692	1585	2277	-	-	-	SO:0001583	missense	0			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.6053G>C	2.37:g.84886262G>C	ENSP00000237449:p.Arg2018Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.R2018T	ENST00000237449.6	37	c.6053	CCDS46348.1	2	.	.	.	.	.	.	.	.	.	.	G	20.4	3.986498	0.74589	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.30714	1.52;1.62;1.52	5.09	5.09	0.68999	.	.	.	.	.	T	0.60560	0.2278	M	0.86420	2.815	0.37123	D	0.900909	D;D	0.63046	0.984;0.992	P;D	0.65010	0.808;0.931	T	0.72367	-0.4315	9	0.72032	D	0.01	.	17.6279	0.88098	0.0:0.0:1.0:0.0	.	2018;2018	Q9C0G6;Q9C0G6-4	DYH6_HUMAN;.	T	2018	ENSP00000374045:R2018T;ENSP00000381326:R2018T;ENSP00000237449:R2018T	ENSP00000237449:R2018T	R	+	2	0	DNAH6	84739773	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.718000	0.54919	2.527000	0.85204	0.643000	0.83706	AGA	DNAH6	-	NULL	ENSG00000115423		0.259	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	HGNC	protein_coding	OTTHUMT00000328537.2	108	0.00	0	G	NM_001370		84886262	84886262	+1	no_errors	ENST00000237449	ensembl	human	known	69_37n	missense	85	19.05	20	SNP	1.000	C
DNAH6	1768	genome.wustl.edu	37	2	84928230	84928230	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:84928230G>A	ENST00000237449.6	+	48	7836	c.7828G>A	c.(7828-7830)Gaa>Aaa	p.E2610K	DNAH6_ENST00000389394.3_Missense_Mutation_p.E2610K			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	2610	AAA 4. {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(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						GTGGCCCAGAGAAGCACTTCT	0.378																																						dbGAP											0													69.0	57.0	61.0					2																	84928230		692	1591	2283	-	-	-	SO:0001583	missense	0			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.7828G>A	2.37:g.84928230G>A	ENSP00000237449:p.Glu2610Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.E2610K	ENST00000237449.6	37	c.7828	CCDS46348.1	2	.	.	.	.	.	.	.	.	.	.	G	28.7	4.944126	0.92593	.	.	ENSG00000115423	ENST00000389394;ENST00000237449	T;T	0.38401	1.14;1.14	5.31	5.31	0.75309	Dynein heavy chain, P-loop containing D4 domain (1);	.	.	.	.	T	0.67401	0.2889	M	0.88570	2.965	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.73780	-0.3875	9	0.72032	D	0.01	.	18.1029	0.89512	0.0:0.0:1.0:0.0	.	2610	Q9C0G6	DYH6_HUMAN	K	2610	ENSP00000374045:E2610K;ENSP00000237449:E2610K	ENSP00000237449:E2610K	E	+	1	0	DNAH6	84781741	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	7.889000	0.87307	2.640000	0.89533	0.563000	0.77884	GAA	DNAH6	-	NULL	ENSG00000115423		0.378	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	HGNC	protein_coding	OTTHUMT00000328537.2	66	0.00	0	G	NM_001370		84928230	84928230	+1	no_errors	ENST00000237449	ensembl	human	known	69_37n	missense	45	29.69	19	SNP	1.000	A
DNAH7	56171	genome.wustl.edu	37	2	196729727	196729727	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:196729727C>G	ENST00000312428.6	-	41	6752	c.6652G>C	c.(6652-6654)Gac>Cac	p.D2218H		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2218					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AGAAGGCGGTCATAATACACT	0.343																																						dbGAP											0													69.0	65.0	66.0					2																	196729727		1810	4072	5882	-	-	-	SO:0001583	missense	0			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.6652G>C	2.37:g.196729727C>G	ENSP00000311273:p.Asp2218His	Somatic		WXS	Illumina GAIIx	Phase_IV	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2	p.D2218H	ENST00000312428.6	37	c.6652	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	C	15.67	2.900986	0.52227	.	.	ENSG00000118997	ENST00000312428	T	0.47177	0.85	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.79981	0.4540	H	0.96111	3.77	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86347	0.1708	10	0.87932	D	0	.	18.9883	0.92780	0.0:1.0:0.0:0.0	.	2218	Q8WXX0	DYH7_HUMAN	H	2218	ENSP00000311273:D2218H	ENSP00000311273:D2218H	D	-	1	0	DNAH7	196437972	1.000000	0.71417	0.999000	0.59377	0.148000	0.21650	7.584000	0.82572	2.601000	0.87937	0.558000	0.71614	GAC	DNAH7	-	NULL	ENSG00000118997		0.343	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3	44	0.00	0	C	NM_018897		196729727	196729727	-1	no_errors	ENST00000312428	ensembl	human	known	69_37n	missense	37	30.19	16	SNP	1.000	G
DNAH8	1769	genome.wustl.edu	37	6	38704918	38704918	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:38704918C>G	ENST00000359357.3	+	4	441	c.187C>G	c.(187-189)Cta>Gta	p.L63V	DNAH8_ENST00000449981.2_Missense_Mutation_p.L280V|DNAH8_ENST00000441566.1_Missense_Mutation_p.L63V			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	63					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(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAATATATTTCTACCAGCTGT	0.393																																						dbGAP											0													104.0	105.0	105.0					6																	38704918		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.187C>G	6.37:g.38704918C>G	ENSP00000352312:p.Leu63Val	Somatic		WXS	Illumina GAIIx	Phase_IV	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.L63V	ENST00000359357.3	37	c.187		6	.	.	.	.	.	.	.	.	.	.	C	8.634	0.894396	0.17613	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T;T	0.34275	1.37;1.88;1.87;1.85	5.2	3.41	0.39046	.	0.104858	0.39210	N	0.001439	T	0.07728	0.0194	L	0.39633	1.23	0.31350	N	0.682634	B	0.12013	0.005	B	0.11329	0.006	T	0.33163	-0.9879	10	0.02654	T	1	.	6.7006	0.23223	0.1421:0.7055:0.0:0.1524	.	63	Q96JB1	DYH8_HUMAN	V	268;268;63;63	ENSP00000415331:L268V;ENSP00000333363:L268V;ENSP00000352312:L63V;ENSP00000402294:L63V	ENSP00000333363:L268V	L	+	1	2	DNAH8	38812896	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	0.970000	0.29383	0.676000	0.31285	0.591000	0.81541	CTA	DNAH8	-	NULL	ENSG00000124721		0.393	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1	92	0.00	0	C	NM_001206927		38704918	38704918	+1	no_errors	ENST00000359357	ensembl	human	known	69_37n	missense	71	17.44	15	SNP	1.000	G
DNAH8	1769	genome.wustl.edu	37	6	38835902	38835902	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:38835902G>C	ENST00000359357.3	+	46	6361	c.6107G>C	c.(6106-6108)aGa>aCa	p.R2036T	DNAH8_ENST00000449981.2_Missense_Mutation_p.R2253T|DNAH8_ENST00000441566.1_Missense_Mutation_p.R2000T			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2036					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(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCTCAAAAAAGAGCCAGACCA	0.378																																						dbGAP											0													129.0	125.0	126.0					6																	38835902		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.6107G>C	6.37:g.38835902G>C	ENSP00000352312:p.Arg2036Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.R2036T	ENST00000359357.3	37	c.6107		6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.171086|5.171086	0.94807|0.94807	.|.	.|.	ENSG00000124721|ENSG00000124721	ENST00000394393|ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	.|T;T;T	.|0.36340	.|2.49;2.49;1.26	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.69360|0.69360	0.3102|0.3102	H|H	0.94503|0.94503	3.545|3.545	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	T|T	0.77411|0.77411	-0.2598|-0.2598	5|10	.|0.87932	.|D	.|0	.|.	20.2699|20.2699	0.98469|0.98469	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|2036	.|Q96JB1	.|DYH8_HUMAN	Q|T	82|2241;2241;2036;2000	.|ENSP00000333363:R2241T;ENSP00000352312:R2036T;ENSP00000402294:R2000T	.|ENSP00000333363:R2241T	E|R	+|+	1|2	0|0	DNAH8|DNAH8	38943880|38943880	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.930000|7.930000	0.87610|0.87610	2.854000|2.854000	0.98071|0.98071	0.655000|0.655000	0.94253|0.94253	GAG|AGA	DNAH8	-	NULL	ENSG00000124721		0.378	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1	172	0.00	0	G	NM_001206927		38835902	38835902	+1	no_errors	ENST00000359357	ensembl	human	known	69_37n	missense	98	25.76	34	SNP	1.000	C
DNAH8	1769	genome.wustl.edu	37	6	38913262	38913262	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:38913262G>C	ENST00000359357.3	+	78	11630	c.11376G>C	c.(11374-11376)ctG>ctC	p.L3792L	RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Silent_p.L4009L|DNAH8_ENST00000441566.1_Silent_p.L3756L			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3792					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(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CTCTGGACCTGAAAGCCTGTC	0.458																																						dbGAP											0													105.0	98.0	101.0					6																	38913262		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.11376G>C	6.37:g.38913262G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.L3792	ENST00000359357.3	37	c.11376		6																																																																																			DNAH8	-	NULL	ENSG00000124721		0.458	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1	79	0.00	0	G	NM_001206927		38913262	38913262	+1	no_errors	ENST00000359357	ensembl	human	known	69_37n	silent	50	27.54	19	SNP	0.999	C
DNAH8	1769	genome.wustl.edu	37	6	38980274	38980274	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:38980274C>G	ENST00000359357.3	+	89	13178	c.12924C>G	c.(12922-12924)ctC>ctG	p.L4308L	DNAH8_ENST00000441566.1_Silent_p.L4272L			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	4308					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(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TACCTCAGCTCTGGAAAAGAG	0.413																																						dbGAP											0													168.0	153.0	158.0					6																	38980274		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.12924C>G	6.37:g.38980274C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.L4308	ENST00000359357.3	37	c.12924		6																																																																																			DNAH8	-	pfam_Dynein_heavy	ENSG00000124721		0.413	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1	128	0.00	0	C	NM_001206927		38980274	38980274	+1	no_errors	ENST00000359357	ensembl	human	known	69_37n	silent	100	19.35	24	SNP	0.003	G
DNAH9	1770	genome.wustl.edu	37	17	11568216	11568216	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:11568216G>C	ENST00000262442.4	+	15	2730	c.2662G>C	c.(2662-2664)Gac>Cac	p.D888H	DNAH9_ENST00000454412.2_Missense_Mutation_p.D888H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	888	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TAACTCTATTGACAATTTGTT	0.383																																						dbGAP											0													129.0	128.0	129.0					17																	11568216		2203	4300	6503	-	-	-	SO:0001583	missense	0			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.2662G>C	17.37:g.11568216G>C	ENSP00000262442:p.Asp888His	Somatic		WXS	Illumina GAIIx	Phase_IV	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.D888H	ENST00000262442.4	37	c.2662	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	G	16.11	3.029023	0.54790	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.32988	1.47;1.43	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.65719	0.2718	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.72947	-0.4137	10	0.87932	D	0	.	19.517	0.95169	0.0:0.0:1.0:0.0	.	888	Q9NYC9	DYH9_HUMAN	H	888	ENSP00000262442:D888H;ENSP00000414874:D888H	ENSP00000262442:D888H	D	+	1	0	DNAH9	11508941	1.000000	0.71417	0.300000	0.25030	0.024000	0.10985	9.213000	0.95133	2.608000	0.88229	0.563000	0.77884	GAC	DNAH9	-	NULL	ENSG00000007174		0.383	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	HGNC	protein_coding	OTTHUMT00000252756.2	167	0.00	0	G	NM_001372		11568216	11568216	+1	no_errors	ENST00000262442	ensembl	human	known	69_37n	missense	96	27.27	36	SNP	1.000	C
DNAH9	1770	genome.wustl.edu	37	17	11584123	11584123	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:11584123G>A	ENST00000262442.4	+	19	3728	c.3660G>A	c.(3658-3660)gtG>gtA	p.V1220V	DNAH9_ENST00000454412.2_Silent_p.V1220V	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1220	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAAATGAAGTGACACTCCTCC	0.527																																						dbGAP											0													75.0	61.0	66.0					17																	11584123		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.3660G>A	17.37:g.11584123G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.V1220	ENST00000262442.4	37	c.3660	CCDS11160.1	17																																																																																			DNAH9	-	NULL	ENSG00000007174		0.527	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	HGNC	protein_coding	OTTHUMT00000252756.2	53	0.00	0	G	NM_001372		11584123	11584123	+1	no_errors	ENST00000262442	ensembl	human	known	69_37n	silent	37	19.57	9	SNP	1.000	A
DNAJA1	3301	genome.wustl.edu	37	9	33037105	33037105	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:33037105G>A	ENST00000330899.4	+	8	1150	c.967G>A	c.(967-969)Gaa>Aaa	p.E323K	DNAJA1_ENST00000495015.1_3'UTR|DNAJA1_ENST00000544625.1_Missense_Mutation_p.E166K	NM_001539.2	NP_001530.1	P31689	DNJA1_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 1	323					androgen receptor signaling pathway (GO:0030521)|DNA damage response, detection of DNA damage (GO:0042769)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of apoptotic process (GO:0043065)|protein folding (GO:0006457)|protein localization to mitochondrion (GO:0070585)|regulation of protein transport (GO:0051223)|response to heat (GO:0009408)|response to unfolded protein (GO:0006986)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasmic side of endoplasmic reticulum membrane (GO:0098554)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|G-protein coupled receptor binding (GO:0001664)|Hsp70 protein binding (GO:0030544)|low-density lipoprotein particle receptor binding (GO:0050750)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			large_intestine(2)|ovary(1)|skin(3)	6			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)		CCTAATCATCGAATTTAAGGT	0.353																																						dbGAP											0													108.0	92.0	97.0					9																	33037105		2203	4300	6503	-	-	-	SO:0001583	missense	0			L08069	CCDS6533.1	9p13.3	2011-09-02			ENSG00000086061	ENSG00000086061		"""Heat shock proteins / DNAJ (HSP40)"""	5229	protein-coding gene	gene with protein product	"""neural precursor cell expressed, developmentally down-regulated 7"""	602837		HSJ2		8334160, 11147971	Standard	NM_001539		Approved	HSPF4, hdj-2, dj-2, NEDD7	uc003zsd.1	P31689	OTTHUMG00000019760	ENST00000330899.4:c.967G>A	9.37:g.33037105G>A	ENSP00000369127:p.Glu323Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T7Q0|Q86TL9	Missense_Mutation	SNP	pfam_DnaJ_C,pfam_DnaJ_N,pfam_HSP_DnaJ_Cys-rich_dom,superfamily_DnaJ_N,superfamily_HSP40/DnaJ_pept-bd,superfamily_HSP_DnaJ_Cys-rich_dom,smart_DnaJ_N,pfscan_DnaJ_N,pfscan_HSP_DnaJ_Cys-rich_dom,prints_Hsp_DnaJ	p.E323K	ENST00000330899.4	37	c.967	CCDS6533.1	9	.	.	.	.	.	.	.	.	.	.	G	8.646	0.897220	0.17686	.	.	ENSG00000086061	ENST00000330899;ENST00000539152;ENST00000544625	T;T	0.40476	1.03;1.03	5.11	4.2	0.49525	Chaperone DnaJ, C-terminal (1);HSP40/DnaJ peptide-binding (1);	0.103605	0.64402	D	0.000004	T	0.22820	0.0551	N	0.11927	0.2	0.47341	D	0.999399	B;B	0.12630	0.006;0.004	B;B	0.10450	0.005;0.002	T	0.05419	-1.0886	10	0.09590	T	0.72	-19.6471	12.3257	0.55009	0.0:0.327:0.673:0.0	.	323;323	Q86TL9;P31689	.;DNJA1_HUMAN	K	323;166;166	ENSP00000369127:E323K;ENSP00000439010:E166K	ENSP00000369127:E323K	E	+	1	0	DNAJA1	33027105	1.000000	0.71417	0.991000	0.47740	0.993000	0.82548	5.861000	0.69553	1.271000	0.44313	0.591000	0.81541	GAA	DNAJA1	-	pfam_DnaJ_C,superfamily_HSP40/DnaJ_pept-bd	ENSG00000086061		0.353	DNAJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJA1	HGNC	protein_coding	OTTHUMT00000052031.1	59	0.00	0	G			33037105	33037105	+1	no_errors	ENST00000330899	ensembl	human	known	69_37n	missense	74	35.09	40	SNP	1.000	A
UGT1A6	54578	genome.wustl.edu	37	2	234652393	234652393	+	Intron	SNP	G	G	A	rs370175895		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:234652393G>A	ENST00000305139.6	+	2	1000				DNAJB3_ENST00000449667.1_RNA|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000609767.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A10_ENST00000373445.1_Intron	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6						cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313)	CTTGGCGTCCGACAACACCTC	0.632																																						dbGAP											0													153.0	165.0	161.0					2																	234652393		2070	4231	6301	-	-	-	SO:0001627	intron_variant	0			M84130	CCDS2507.1, CCDS2508.1	2q37	2010-03-05	2005-07-20		ENSG00000167165	ENSG00000167165		"""UDP glucuronosyltransferases"""	12538	other	complex locus constituent		606431	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 1339448	Standard	NM_001072		Approved	HLUGP, GNT1, UGT1F		P19224	OTTHUMG00000059122	ENST00000305139.6:c.862-23287G>A	2.37:g.234652393G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKK6|B8K289|Q96TE7	RNA	SNP	-	NULL	ENST00000305139.6	37	NULL	CCDS2507.1	2																																																																																			DNAJB3	-	-	ENSG00000227802		0.632	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJB3	HGNC	protein_coding	OTTHUMT00000130988.1	32	0.00	0	G	NM_205862		234652393	234652393	-1	no_errors	ENST00000449667	ensembl	human	known	69_37n	rna	30	25.00	10	SNP	0.991	A
DNAJB5	25822	genome.wustl.edu	37	9	34996648	34996648	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:34996648G>A	ENST00000541010.1	+	2	3610	c.598G>A	c.(598-600)Gat>Aat	p.D200N	DNAJB5_ENST00000312316.5_Missense_Mutation_p.D200N|DNAJB5_ENST00000453597.3_Missense_Mutation_p.D314N|DNAJB5_ENST00000454002.2_Missense_Mutation_p.D272N|DNAJB5_ENST00000545841.1_Missense_Mutation_p.D200N|DNAJB5_ENST00000335998.3_Missense_Mutation_p.D234N			O75953	DNJB5_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 5	200					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|nucleus (GO:0005634)	chaperone binding (GO:0051087)			kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(32;0.00575)			CCTCAACCCTGATGGGCGAAC	0.602																																						dbGAP											0													53.0	49.0	50.0					9																	34996648		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF088982	CCDS35007.1, CCDS47959.1, CCDS47960.1, CCDS47960.2	9p	2011-09-02			ENSG00000137094	ENSG00000137094		"""Heat shock proteins / DNAJ (HSP40)"""	14887	protein-coding gene	gene with protein product		611328				10570961, 11147971	Standard	NM_001135004		Approved	Hsc40	uc003zvs.4	O75953	OTTHUMG00000019840	ENST00000541010.1:c.598G>A	9.37:g.34996648G>A	ENSP00000443151:p.Asp200Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KN14|B4DSA6|J3KQM9|J3KR08|Q5T656|Q8TDR7|Q96EM4	Missense_Mutation	SNP	pfam_DnaJ_C,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_HSP40/DnaJ_pept-bd,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.D272N	ENST00000541010.1	37	c.814	CCDS35007.1	9	.	.	.	.	.	.	.	.	.	.	G	26.1	4.701491	0.88924	.	.	ENSG00000137094	ENST00000453597;ENST00000335998;ENST00000378751;ENST00000312316;ENST00000541010;ENST00000454002;ENST00000545841	D;D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75;-1.75	5.41	4.52	0.55395	HSP40/DnaJ peptide-binding (1);	0.192234	0.52532	D	0.000068	T	0.72003	0.3407	N	0.17764	0.52	0.58432	D	0.999999	P;B	0.36330	0.548;0.01	B;B	0.36719	0.231;0.016	T	0.71170	-0.4671	10	0.32370	T	0.25	.	13.4331	0.61068	0.0748:0.0:0.9252:0.0	.	272;200	B4DSA6;O75953	.;DNJB5_HUMAN	N	314;234;200;200;200;272;200	ENSP00000404079:D314N;ENSP00000337626:D234N;ENSP00000312517:D200N;ENSP00000443151:D200N;ENSP00000413684:D272N;ENSP00000441999:D200N	ENSP00000312517:D200N	D	+	1	0	DNAJB5	34986648	1.000000	0.71417	0.917000	0.36280	0.989000	0.77384	9.657000	0.98554	1.536000	0.49237	0.561000	0.74099	GAT	DNAJB5	-	superfamily_HSP40/DnaJ_pept-bd	ENSG00000137094		0.602	DNAJB5-008	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	DNAJB5	HGNC	protein_coding	OTTHUMT00000401397.1	25	0.00	0	G			34996648	34996648	+1	no_errors	ENST00000454002	ensembl	human	known	69_37n	missense	33	36.54	19	SNP	0.998	A
DNAJC10	54431	genome.wustl.edu	37	2	183622506	183622506	+	Missense_Mutation	SNP	G	G	C	rs139539130		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:183622506G>C	ENST00000264065.7	+	19	2312	c.1897G>C	c.(1897-1899)Gag>Cag	p.E633Q		NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	633	Thioredoxin 3. {ECO:0000255|PROSITE- ProRule:PRU00691}.			E -> K (in Ref. 8; CAB70858). {ECO:0000305}.	cell redox homeostasis (GO:0045454)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATPase activity (GO:0032781)|protein folding in endoplasmic reticulum (GO:0034975)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|disulfide oxidoreductase activity (GO:0015036)|Hsp70 protein binding (GO:0030544)|misfolded protein binding (GO:0051787)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide oxidoreductase activity (GO:0015035)	p.E633Q(1)		breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			AAGATACCCTGAGATAAGATT	0.308																																					Pancreas(56;860 1183 25669 35822 48585)	dbGAP											1	Substitution - Missense(1)	skin(1)											71.0	76.0	75.0					2																	183622506		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33345.1, CCDS74613.1	2q32.1	2011-11-23			ENSG00000077232	ENSG00000077232		"""Heat shock proteins / DNAJ (HSP40)"", ""Protein disulfide isomerases"""	24637	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 19"""	607987				12411443, 12446677	Standard	NM_018981		Approved	ERdj5, PDIA19	uc002uow.2	Q8IXB1	OTTHUMG00000154209	ENST00000264065.7:c.1897G>C	2.37:g.183622506G>C	ENSP00000264065:p.Glu633Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	Missense_Mutation	SNP	pfam_Thioredoxin_domain,pfam_DnaJ_N,superfamily_Thioredoxin-like_fold,superfamily_DnaJ_N,smart_DnaJ_N,pirsf_DnaJ_homolog_subfam-C,prints_Hsp_DnaJ,prints_Thioredoxin,pfscan_DnaJ_N	p.E633Q	ENST00000264065.7	37	c.1897	CCDS33345.1	2	.	.	.	.	.	.	.	.	.	.	G	29.7	5.030362	0.93575	.	.	ENSG00000077232	ENST00000264065;ENST00000392392	T	0.03330	3.97	5.87	5.87	0.94306	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.049542	0.85682	D	0.000000	T	0.15176	0.0366	L	0.59436	1.845	0.80722	D	1	P;D	0.64830	0.951;0.994	P;P	0.62491	0.754;0.903	T	0.00014	-1.2401	10	0.48119	T	0.1	.	20.193	0.98233	0.0:0.0:1.0:0.0	.	587;633	Q8IXB1-2;Q8IXB1	.;DJC10_HUMAN	Q	633;587	ENSP00000264065:E633Q	ENSP00000264065:E633Q	E	+	1	0	DNAJC10	183330751	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.599000	0.74127	2.941000	0.99782	0.655000	0.94253	GAG	DNAJC10	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,pirsf_DnaJ_homolog_subfam-C	ENSG00000077232		0.308	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC10	HGNC	protein_coding	OTTHUMT00000334418.2	132	0.00	0	G	NM_018981		183622506	183622506	+1	no_errors	ENST00000264065	ensembl	human	known	69_37n	missense	100	18.70	23	SNP	1.000	C
DNAJC11	55735	genome.wustl.edu	37	1	6697333	6697333	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:6697333C>T	ENST00000377577.5	-	14	1572	c.1449G>A	c.(1447-1449)gtG>gtA	p.V483V	DNAJC11_ENST00000465508.1_5'UTR|DNAJC11_ENST00000377573.5_Silent_p.V393V|DNAJC11_ENST00000349363.6_Intron|DNAJC11_ENST00000294401.7_Silent_p.V431V|DNAJC11_ENST00000542246.1_Silent_p.V445V	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	483						extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)		p.V483V(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		CAATCACCTTCACCTTCTCGC	0.562																																						dbGAP											1	Substitution - coding silent(1)	urinary_tract(1)											280.0	212.0	235.0					1																	6697333		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"""Heat shock proteins / DNAJ (HSP40)"""	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.1449G>A	1.37:g.6697333C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Silent	SNP	pfam_DnaJ-like_C11_C,pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.V483	ENST00000377577.5	37	c.1449	CCDS87.1	1																																																																																			DNAJC11	-	pfam_DnaJ-like_C11_C	ENSG00000007923		0.562	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC11	HGNC	protein_coding	OTTHUMT00000004216.3	122	0.81	1	C	NM_018198		6697333	6697333	-1	no_errors	ENST00000377577	ensembl	human	known	69_37n	silent	96	25.00	32	SNP	1.000	T
DNAJC13	23317	genome.wustl.edu	37	3	132209881	132209881	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:132209881G>C	ENST00000260818.6	+	32	3857	c.3609G>C	c.(3607-3609)tgG>tgC	p.W1203C		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1203					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						AAGCAATCTGGAGCAGTGAAA	0.333																																						dbGAP											0													42.0	47.0	45.0					3																	132209881		2199	4298	6497	-	-	-	SO:0001583	missense	0			AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.3609G>C	3.37:g.132209881G>C	ENSP00000260818:p.Trp1203Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	pfam_DnaJ_N,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_N,pfscan_DnaJ_N	p.W1203C	ENST00000260818.6	37	c.3609	CCDS33857.1	3	.	.	.	.	.	.	.	.	.	.	G	21.0	4.086123	0.76642	.	.	ENSG00000138246	ENST00000260818	T	0.66460	-0.21	5.45	5.45	0.79879	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85885	0.5801	M	0.90650	3.135	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.88523	0.3097	10	0.87932	D	0	.	19.2878	0.94085	0.0:0.0:1.0:0.0	.	1203	O75165	DJC13_HUMAN	C	1203	ENSP00000260818:W1203C	ENSP00000260818:W1203C	W	+	3	0	DNAJC13	133692571	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.562000	0.86427	0.591000	0.81541	TGG	DNAJC13	-	superfamily_ARM-type_fold	ENSG00000138246		0.333	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC13	HGNC	protein_coding	OTTHUMT00000356807.2	47	0.00	0	G	NM_015268		132209881	132209881	+1	no_errors	ENST00000260818	ensembl	human	known	69_37n	missense	38	24.00	12	SNP	1.000	C
DNAJC14	85406	genome.wustl.edu	37	12	56222181	56222181	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:56222181C>T	ENST00000357606.3	-	3	551	c.262G>A	c.(262-264)Gag>Aag	p.E88K	DNAJC14_ENST00000317287.5_Missense_Mutation_p.E88K|RP11-762I7.5_ENST00000546837.1_5'Flank|TMEM198B_ENST00000478241.1_RNA|DNAJC14_ENST00000317269.3_Missense_Mutation_p.E88K			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	88					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						TCAGGGTCCTCTGCATCTCTA	0.552																																						dbGAP											0													182.0	188.0	186.0					12																	56222181		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF141342	CCDS8894.1	12q12	2011-09-02				ENSG00000135392		"""Heat shock proteins / DNAJ (HSP40)"""	24581	protein-coding gene	gene with protein product		606092				11331877, 11984006	Standard	NM_032364		Approved	DNAJ, DRIP78, HDJ3, LIP6, FLJ32792	uc001shu.2	Q6Y2X3		ENST00000357606.3:c.262G>A	12.37:g.56222181C>T	ENSP00000350223:p.Glu88Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A5YM67|Q17RY2|Q66K17|Q96N59|Q96T63	Missense_Mutation	SNP	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.E88K	ENST00000357606.3	37	c.262	CCDS8894.1	12	.	.	.	.	.	.	.	.	.	.	C	11.13	1.547170	0.27652	.	.	ENSG00000135392	ENST00000357606;ENST00000317269;ENST00000317287;ENST00000547445	T;T;T	0.37752	1.18;1.18;1.18	5.65	4.76	0.60689	.	0.145319	0.45126	D	0.000390	T	0.23410	0.0566	N	0.19112	0.55	0.18873	N	0.999986	B;B	0.10296	0.003;0.001	B;B	0.08055	0.003;0.003	T	0.13124	-1.0521	10	0.31617	T	0.26	-1.7075	11.181	0.48627	0.0:0.9141:0.0:0.0859	.	88;88	Q6Y2X3;A8K5A7	DJC14_HUMAN;.	K	88	ENSP00000350223:E88K;ENSP00000316240:E88K;ENSP00000317500:E88K	ENSP00000316240:E88K	E	-	1	0	DNAJC14	54508448	0.562000	0.26586	0.129000	0.21949	0.525000	0.34531	2.253000	0.43205	1.512000	0.48834	0.650000	0.86243	GAG	DNAJC14	-	NULL	ENSG00000135392		0.552	DNAJC14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DNAJC14	HGNC	protein_coding	OTTHUMT00000409095.1	106	0.00	0	C	NM_032364		56222181	56222181	-1	no_errors	ENST00000317269	ensembl	human	known	69_37n	missense	87	39.16	56	SNP	0.454	T
DNAJC2	27000	genome.wustl.edu	37	7	102957367	102957367	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:102957367C>A	ENST00000379263.3	-	13	1587	c.1337G>T	c.(1336-1338)gGa>gTa	p.G446V	DNAJC2_ENST00000249270.7_Missense_Mutation_p.G393V|PMPCB_ENST00000420236.2_Intron	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	446					'de novo' cotranslational protein folding (GO:0051083)|chromatin modification (GO:0016568)|DNA replication (GO:0006260)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|Hsp70 protein binding (GO:0030544)|poly(A) RNA binding (GO:0044822)|ubiquitin binding (GO:0043130)			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						ATTTCCACCTCCACCAGTTGA	0.388																																						dbGAP											0													182.0	166.0	171.0					7																	102957367		1866	4098	5964	-	-	-	SO:0001583	missense	0			X98260	CCDS43628.1, CCDS47679.1	7q22-q32	2011-09-02	2008-07-01	2008-07-01	ENSG00000105821	ENSG00000105821		"""Heat shock proteins / DNAJ (HSP40)"""	13192	protein-coding gene	gene with protein product		605502	"""zuotin related factor 1"""	ZRF1		8885239	Standard	NM_001129887		Approved	MPP11, MPHOSPH11, ZUO1, zuotin	uc003vbo.3	Q99543	OTTHUMG00000157202	ENST00000379263.3:c.1337G>T	7.37:g.102957367C>A	ENSP00000368565:p.Gly446Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A4VCI0|Q9BVX1	Missense_Mutation	SNP	pfam_SANT/Myb,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_Homeodomain-like,smart_DnaJ_N,smart_SANT/Myb,pfscan_Myb-like_dom,pfscan_DnaJ_N	p.G446V	ENST00000379263.3	37	c.1337	CCDS43628.1	7	.	.	.	.	.	.	.	.	.	.	C	13.22	2.172737	0.38413	.	.	ENSG00000105821	ENST00000249270;ENST00000379263	.	.	.	5.3	5.3	0.74995	.	0.289314	0.38663	N	0.001614	T	0.66489	0.2794	L	0.50919	1.6	0.80722	D	1	B;B	0.25743	0.133;0.068	B;B	0.34093	0.175;0.036	T	0.61227	-0.7105	9	0.27785	T	0.31	-22.8236	19.3139	0.94204	0.0:1.0:0.0:0.0	.	393;446	Q99543-2;Q99543	.;DNJC2_HUMAN	V	393;446	.	ENSP00000249270:G393V	G	-	2	0	DNAJC2	102744603	0.971000	0.33674	0.165000	0.22776	0.522000	0.34438	5.439000	0.66556	2.625000	0.88918	0.563000	0.77884	GGA	DNAJC2	-	NULL	ENSG00000105821		0.388	DNAJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC2	HGNC	protein_coding	OTTHUMT00000347891.1	270	0.00	0	C			102957367	102957367	-1	no_errors	ENST00000379263	ensembl	human	known	69_37n	missense	216	16.92	44	SNP	1.000	A
DNAJC21	134218	genome.wustl.edu	37	5	34945066	34945066	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:34945066C>G	ENST00000342382.4	+	8	1305	c.1078C>G	c.(1078-1080)Caa>Gaa	p.Q360E	DNAJC21_ENST00000303525.7_Missense_Mutation_p.Q360E|DNAJC21_ENST00000382021.2_Missense_Mutation_p.Q360E			Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	360	Glu-rich.				protein folding (GO:0006457)	ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			TTCAAGACCTCAAATTGATGA	0.353																																						dbGAP											0													94.0	98.0	97.0					5																	34945066		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3907.2, CCDS34144.1	5p13-p12	2012-10-05			ENSG00000168724	ENSG00000168724		"""Heat shock proteins / DNAJ (HSP40)"""	27030	protein-coding gene	gene with protein product	"""JJJ1 DnaJ domain protein homolog (S. cerevisiae)"""					15067379	Standard	XM_005248250		Approved	GS3, DNAJA5, JJJ1	uc003jjc.3	Q5F1R6	OTTHUMG00000074103	ENST00000342382.4:c.1078C>G	5.37:g.34945066C>G	ENSP00000343728:p.Gln360Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3B7J9|Q6P086|Q6ZS43|Q86VC6	Missense_Mutation	SNP	pfam_DnaJ_N,pfam_Znf_C2H2_jaz,superfamily_DnaJ_N,smart_DnaJ_N,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.Q360E	ENST00000342382.4	37	c.1078	CCDS34144.1	5	.	.	.	.	.	.	.	.	.	.	C	0.744	-0.775364	0.02951	.	.	ENSG00000168724	ENST00000342382;ENST00000382021;ENST00000303525	T;T;T	0.39787	1.09;1.06;1.11	6.07	5.21	0.72293	.	0.725808	0.13873	N	0.356896	T	0.30479	0.0766	L	0.35487	1.065	0.09310	N	1	B;B;P	0.44044	0.029;0.007;0.825	B;B;B	0.42827	0.02;0.003;0.399	T	0.09552	-1.0669	10	0.02654	T	1	-5.0284	10.028	0.42083	0.0:0.6639:0.2631:0.0729	.	360;360;360	Q5F1R6-3;Q5F1R6;Q5F1R6-2	.;DJC21_HUMAN;.	E	360	ENSP00000343728:Q360E;ENSP00000371451:Q360E;ENSP00000306289:Q360E	ENSP00000306289:Q360E	Q	+	1	0	DNAJC21	34980823	0.002000	0.14202	0.145000	0.22337	0.858000	0.48976	0.984000	0.29565	1.570000	0.49709	0.655000	0.94253	CAA	DNAJC21	-	NULL	ENSG00000168724		0.353	DNAJC21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC21	HGNC	protein_coding	OTTHUMT00000157337.1	51	0.00	0	C	NM_194283		34945066	34945066	+1	no_errors	ENST00000382021	ensembl	human	known	69_37n	missense	48	27.27	18	SNP	0.043	G
DCDC1	341019	genome.wustl.edu	37	11	31392334	31392334	+	5'Flank	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:31392334C>A	ENST00000452803.1	-	0	0				DNAJC24_ENST00000527601.1_3'UTR|DNAJC24_ENST00000536040.1_Nonsense_Mutation_p.Y12*|DNAJC24_ENST00000465995.1_Nonsense_Mutation_p.Y13*	NM_181807.3	NP_861523.2	P59894	DCDC1_HUMAN	doublecortin domain containing 1						intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					AGGATTGGTACAGCATCCTGG	0.368																																						dbGAP											0													77.0	74.0	75.0					11																	31392334		1855	4085	5940	-	-	-	SO:0001631	upstream_gene_variant	0			AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144		11.37:g.31392334C>A	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	A6PVL6|B7WNX6|Q6ZU04	Nonsense_Mutation	SNP	pfam_DnaJ_N,pfam_Znf_DHP,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_Znf_DHP,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.Y13*	ENST00000452803.1	37	c.39	CCDS7872.1	11	.	.	.	.	.	.	.	.	.	.	C	21.9	4.220318	0.79464	.	.	ENSG00000170946	ENST00000465995;ENST00000536040	.	.	.	5.81	0.705	0.18127	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.8474	0.41034	0.0:0.6568:0.0:0.3432	.	.	.	.	X	13;12	.	ENSP00000417548:Y13X	Y	+	3	2	DNAJC24	31348910	0.586000	0.26782	0.988000	0.46212	0.345000	0.29048	-0.062000	0.11674	0.087000	0.17167	0.650000	0.86243	TAC	DNAJC24	-	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	ENSG00000170946		0.368	DCDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC24	HGNC	protein_coding	OTTHUMT00000316531.1	83	0.00	0	C	NM_181807		31392334	31392334	+1	no_errors	ENST00000465995	ensembl	human	known	69_37n	nonsense	49	18.33	11	SNP	0.851	A
DNAJC27	51277	genome.wustl.edu	37	2	25174349	25174349	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:25174349G>A	ENST00000264711.2	-	6	792	c.603C>T	c.(601-603)ttC>ttT	p.F201F	DNAJC27_ENST00000534855.1_Silent_p.F130F	NM_001198559.1|NM_016544.2	NP_001185488.1|NP_057628.1	Q9NZQ0	DJC27_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 27	201					small GTPase mediated signal transduction (GO:0007264)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						GTTCTTTGGTGAAACTAGCAC	0.453																																						dbGAP											0													142.0	134.0	137.0					2																	25174349		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS1716.1, CCDS74493.1	2p23.3	2011-09-02	2008-08-20	2008-08-20	ENSG00000115137	ENSG00000115137		"""Heat shock proteins / DNAJ (HSP40)"""	30290	protein-coding gene	gene with protein product		613527	"""rab and DnaJ domain containing"""	RBJ		14980719	Standard	NM_016544		Approved	RabJS	uc002rft.2	Q9NZQ0	OTTHUMG00000125524	ENST00000264711.2:c.603C>T	2.37:g.25174349G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JV88|Q86Y24	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_DnaJ_N,pfam_ProtSyn_GTP-bd,superfamily_DnaJ_N,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_DnaJ_N,pfscan_DnaJ_N,prints_Small_GTPase,prints_Hsp_DnaJ,tigrfam_Small_GTP-bd_dom	p.F201	ENST00000264711.2	37	c.603	CCDS1716.1	2																																																																																			DNAJC27	-	superfamily_DnaJ_N,smart_Ran_GTPase	ENSG00000115137		0.453	DNAJC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC27	HGNC	protein_coding	OTTHUMT00000246855.3	108	0.00	0	G	NM_016544		25174349	25174349	-1	no_errors	ENST00000264711	ensembl	human	known	69_37n	silent	84	23.64	26	SNP	1.000	A
DNAJC5G	285126	genome.wustl.edu	37	2	27500865	27500865	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:27500865G>A	ENST00000296097.3	+	4	775	c.357G>A	c.(355-357)ctG>ctA	p.L119L	DNAJC5G_ENST00000402462.1_Silent_p.L119L|DNAJC5G_ENST00000404433.1_Silent_p.L103L|DNAJC5G_ENST00000406962.1_Intron|SLC30A3_ENST00000447008.2_5'Flank	NM_173650.1	NP_775921.1	Q8N7S2	DNJ5G_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 gamma	119						membrane (GO:0016020)				cervix(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATTTTATTCTGAATAGTTGTT	0.398																																						dbGAP											0													73.0	72.0	72.0					2																	27500865		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF368277	CCDS1744.1	2p23	2011-09-02			ENSG00000163793	ENSG00000163793		"""Heat shock proteins / DNAJ (HSP40)"""	24844	protein-coding gene	gene with protein product		613946					Standard	NM_173650		Approved	FLJ40417, CSP-gamma	uc002rjl.1	Q8N7S2	OTTHUMG00000097079	ENST00000296097.3:c.357G>A	2.37:g.27500865G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DY29|Q53SY5|Q8IYQ4|Q96RJ8	Silent	SNP	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.L119	ENST00000296097.3	37	c.357	CCDS1744.1	2																																																																																			DNAJC5G	-	NULL	ENSG00000163793		0.398	DNAJC5G-001	KNOWN	basic|CCDS	protein_coding	DNAJC5G	HGNC	protein_coding	OTTHUMT00000214200.1	47	0.00	0	G	NM_173650		27500865	27500865	+1	no_errors	ENST00000296097	ensembl	human	known	69_37n	silent	43	17.31	9	SNP	0.992	A
DNAJC7	7266	genome.wustl.edu	37	17	40133873	40133873	+	Splice_Site	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:40133873C>T	ENST00000457167.4	-	12	1620	c.1384G>A	c.(1384-1386)Gat>Aat	p.D462N	DNAJC7_ENST00000316603.7_Splice_Site_p.D406N|DNAJC7_ENST00000426588.3_Splice_Site_p.D406N	NM_003315.3	NP_003306.3	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	462					chaperone cofactor-dependent protein refolding (GO:0070389)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	heat shock protein binding (GO:0031072)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				GCCAACTCACCACCCATATTC	0.473																																					Colon(63;618 1117 8600 10857 19751)	dbGAP											0													139.0	131.0	133.0					17																	40133873		1966	4152	6118	-	-	-	SO:0001630	splice_region_variant	0			U46571	CCDS45677.1, CCDS45678.1	17q11.2	2013-01-10				ENSG00000168259		"""Heat shock proteins / DNAJ (HSP40)"", ""Tetratricopeptide (TTC) repeat domain containing"""	12392	protein-coding gene	gene with protein product		601964		TTC2		8836031, 11147971	Standard	NR_029431		Approved	TPR2	uc002hyo.3	Q99615		ENST00000457167.4:c.1384+1G>A	17.37:g.40133873C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z784	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,pfam_DnaJ_N,superfamily_DnaJ_N,smart_TPR_repeat,smart_DnaJ_N,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.D462N	ENST00000457167.4	37	c.1384	CCDS45677.1	17	.	.	.	.	.	.	.	.	.	.	C	20.8	4.049211	0.75846	.	.	ENSG00000168259	ENST00000457167;ENST00000426588;ENST00000316603	T;T;T	0.72942	-0.7;-0.7;-0.7	5.46	5.46	0.80206	Heat shock protein DnaJ, N-terminal (2);	0.230649	0.48767	D	0.000178	T	0.74152	0.3679	L	0.49778	1.585	0.80722	D	1	B;P	0.44044	0.255;0.825	B;P	0.48524	0.236;0.58	T	0.71866	-0.4463	9	.	.	.	-20.5547	19.3043	0.94155	0.0:1.0:0.0:0.0	.	406;462	Q7Z784;Q99615	.;DNJC7_HUMAN	N	462;406;406	ENSP00000406463:D462N;ENSP00000394327:D406N;ENSP00000313311:D406N	.	D	-	1	0	DNAJC7	37387399	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	6.934000	0.75880	2.548000	0.85928	0.655000	0.94253	GAT	DNAJC7	-	superfamily_DnaJ_N	ENSG00000168259		0.473	DNAJC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC7	HGNC	protein_coding	OTTHUMT00000453366.2	129	0.00	0	C		Missense_Mutation	40133873	40133873	-1	no_errors	ENST00000457167	ensembl	human	known	69_37n	missense	63	43.24	48	SNP	1.000	T
DNAJC9	23234	genome.wustl.edu	37	10	75006556	75006556	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:75006556C>T	ENST00000372950.4	-	2	1883	c.211G>A	c.(211-213)Gac>Aac	p.D71N	DNAJC9-AS1_ENST00000513954.1_RNA|DNAJC9-AS1_ENST00000440197.2_RNA|MRPS16_ENST00000416782.2_3'UTR|MRPS16_ENST00000479005.1_5'Flank	NM_015190.3	NP_056005.1	Q8WXX5	DNJC9_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 9	71	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				social behavior (GO:0035176)	nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(2)|stomach(1)	6	Prostate(51;0.0119)					TGTTCTCTGTCACTGAGAACG	0.542																																						dbGAP											0													85.0	75.0	78.0					10																	75006556		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF327347	CCDS7322.1	10q22.3	2011-09-02			ENSG00000213551	ENSG00000213551		"""Heat shock proteins / DNAJ (HSP40)"""	19123	protein-coding gene	gene with protein product		611206					Standard	NM_015190		Approved	JDD1, SB73	uc001jtr.3	Q8WXX5	OTTHUMG00000018461	ENST00000372950.4:c.211G>A	10.37:g.75006556C>T	ENSP00000362041:p.Asp71Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RMW6	Missense_Mutation	SNP	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,prints_Hsp_DnaJ,pfscan_DnaJ_N	p.D71N	ENST00000372950.4	37	c.211	CCDS7322.1	10	.	.	.	.	.	.	.	.	.	.	C	23.4	4.416605	0.83449	.	.	ENSG00000213551	ENST00000372950	T	0.78595	-1.19	5.49	5.49	0.81192	Heat shock protein DnaJ, N-terminal (5);Heat shock protein DnaJ, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.82540	0.5059	L	0.37561	1.115	0.80722	D	1	D	0.63880	0.993	D	0.65573	0.936	D	0.83482	0.0065	10	0.56958	D	0.05	.	16.8586	0.86012	0.0:1.0:0.0:0.0	.	71	Q8WXX5	DNJC9_HUMAN	N	71	ENSP00000362041:D71N	ENSP00000362041:D71N	D	-	1	0	DNAJC9	74676562	1.000000	0.71417	0.595000	0.28798	0.052000	0.14988	7.768000	0.85345	2.583000	0.87209	0.591000	0.81541	GAC	DNAJC9	-	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,prints_Hsp_DnaJ,pfscan_DnaJ_N	ENSG00000213551		0.542	DNAJC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC9	HGNC	protein_coding	OTTHUMT00000048643.1	90	0.00	0	C	NM_015190		75006556	75006556	-1	no_errors	ENST00000372950	ensembl	human	known	69_37n	missense	41	35.94	23	SNP	1.000	T
DNAL1	83544	genome.wustl.edu	37	14	74138262	74138262	+	Missense_Mutation	SNP	T	T	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:74138262T>G	ENST00000553645.2	+	5	267	c.226T>G	c.(226-228)Tct>Gct	p.S76A	DNAL1_ENST00000554871.1_Missense_Mutation_p.S37A|DNAL1_ENST00000311089.3_De_novo_Start_OutOfFrame|DNAL1_ENST00000554339.1_Intron|DNAL1_ENST00000540526.1_Missense_Mutation_p.S37A	NM_031427.3	NP_113615.2	Q4LDG9	DNAL1_HUMAN	dynein, axonemal, light chain 1	76										kidney(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(234;0.00384)|KIRC - Kidney renal clear cell carcinoma(182;0.095)		GAGGATATTATCTTTAGGAAG	0.224																																						dbGAP											0													17.0	17.0	17.0					14																	74138262		1749	3954	5703	-	-	-	SO:0001583	missense	0			BC005343	CCDS45134.1, CCDS55928.1	14q24.3	2012-05-03	2006-09-04	2006-09-04	ENSG00000119661	ENSG00000119661			23247	protein-coding gene	gene with protein product		610062	"""chromosome 14 open reading frame 168"""	C14orf168		15845866	Standard	NM_031427		Approved	MGC12435, 1700010H15RiK, CILD16	uc001xoq.4	Q4LDG9		ENST00000553645.2:c.226T>G	14.37:g.74138262T>G	ENSP00000452037:p.Ser76Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RD38|Q5JPB7|Q9BS43	Missense_Mutation	SNP	NULL	p.S76A	ENST00000553645.2	37	c.226	CCDS45134.1	14	.	.	.	.	.	.	.	.	.	.	T	18.77	3.695550	0.68386	.	.	ENSG00000119661	ENST00000553645;ENST00000555919;ENST00000554871;ENST00000540526	T;T;T;T	0.54279	0.58;2.84;0.58;0.58	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.72630	0.3484	M	0.91196	3.185	0.51233	D	0.999913	B	0.27951	0.195	P	0.46026	0.501	T	0.73404	-0.3993	10	0.39692	T	0.17	-5.9905	13.8396	0.63430	0.0:0.0:0.0:1.0	.	76	Q4LDG9	DNAL1_HUMAN	A	76;37;37;37	ENSP00000452037:S76A;ENSP00000451101:S37A;ENSP00000451834:S37A;ENSP00000439695:S37A	ENSP00000310360:S76A	S	+	1	0	DNAL1	73208015	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.496000	0.66918	2.085000	0.62840	0.372000	0.22366	TCT	DNAL1	-	NULL	ENSG00000119661		0.224	DNAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAL1	HGNC	protein_coding	OTTHUMT00000414565.2	36	0.00	0	T	NM_031427		74138262	74138262	+1	no_errors	ENST00000553645	ensembl	human	known	69_37n	missense	31	22.50	9	SNP	1.000	G
DNHD1	144132	genome.wustl.edu	37	11	6566518	6566518	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:6566518C>G	ENST00000527990.2	+	19	4349	c.4349C>G	c.(4348-4350)tCt>tGt	p.S1450C	DNHD1_ENST00000254579.6_Missense_Mutation_p.S1450C			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	1450					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TGGCTGGCCTCTCTGGAGAAG	0.617																																						dbGAP											0													60.0	68.0	66.0					11																	6566518		692	1591	2283	-	-	-	SO:0001583	missense	0			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.4349C>G	11.37:g.6566518C>G	ENSP00000436180:p.Ser1450Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy,superfamily_t-SNARE	p.S1450C	ENST00000527990.2	37	c.4349	CCDS44532.1	11	.	.	.	.	.	.	.	.	.	.	C	12.08	1.831520	0.32329	.	.	ENSG00000179532	ENST00000254579;ENST00000527990	T;T	0.62232	0.04;0.04	4.93	0.674	0.17946	Dynein heavy chain, domain-2 (1);	0.803881	0.11679	N	0.540023	T	0.44891	0.1315	L	0.29908	0.895	0.09310	N	1	B	0.18013	0.025	B	0.20384	0.029	T	0.36744	-0.9735	10	0.52906	T	0.07	.	4.0404	0.09748	0.2347:0.4342:0.2519:0.0791	.	1450	Q96M86	DNHD1_HUMAN	C	1450	ENSP00000254579:S1450C;ENSP00000436180:S1450C	ENSP00000254579:S1450C	S	+	2	0	DNHD1	6523094	0.001000	0.12720	0.996000	0.52242	0.991000	0.79684	-0.092000	0.11129	0.267000	0.21916	0.655000	0.94253	TCT	DNHD1	-	pfam_Dynein_heavy_dom-2	ENSG00000179532		0.617	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	DNHD1	HGNC	protein_coding	OTTHUMT00000384673.2	45	0.00	0	C	NM_144666		6566518	6566518	+1	no_errors	ENST00000254579	ensembl	human	known	69_37n	missense	65	22.62	19	SNP	0.118	G
DNHD1	144132	genome.wustl.edu	37	11	6588481	6588481	+	Silent	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:6588481G>T	ENST00000527990.2	+	34	11742	c.11742G>T	c.(11740-11742)ctG>ctT	p.L3914L	DNHD1_ENST00000254579.6_Silent_p.L3914L			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	3914					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GAGCACACCTGACCCGCCAGC	0.597																																						dbGAP											0													73.0	82.0	79.0					11																	6588481		2143	4247	6390	-	-	-	SO:0001819	synonymous_variant	0			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.11742G>T	11.37:g.6588481G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Silent	SNP	pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy,superfamily_t-SNARE	p.L3914	ENST00000527990.2	37	c.11742	CCDS44532.1	11																																																																																			DNHD1	-	NULL	ENSG00000179532		0.597	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	DNHD1	HGNC	protein_coding	OTTHUMT00000384673.2	25	0.00	0	G	NM_144666		6588481	6588481	+1	no_errors	ENST00000254579	ensembl	human	known	69_37n	silent	35	32.69	17	SNP	0.981	T
DNM2	1785	genome.wustl.edu	37	19	10922975	10922975	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:10922975C>T	ENST00000355667.6	+	15	1673	c.1593C>T	c.(1591-1593)atC>atT	p.I531I	DNM2_ENST00000389253.4_Silent_p.I531I|DNM2_ENST00000314646.5_Silent_p.I531I|DNM2_ENST00000408974.4_Silent_p.I527I|DNM2_ENST00000585892.1_Silent_p.I531I|DNM2_ENST00000359692.6_Silent_p.I527I	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	531	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			TCAACAACATCAGCCTGATGA	0.627			"""F, N, Splice, Mis, O"""		ETP ALL																																	dbGAP		Rec	yes		19	19p13.2	1785	dynamin 2		L	0													92.0	61.0	71.0					19																	10922975		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0				CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"""Pleckstrin homology (PH) domain containing"""	2974	protein-coding gene	gene with protein product	"""dynamin II"", ""cytoskeletal protein"""	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.1593C>T	19.37:g.10922975C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Nonsense_Mutation	SNP	pfam_Dynamin_central,pfam_GED,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology	p.Q140*	ENST00000355667.6	37	c.418	CCDS45968.1	19																																																																																			DNM2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000079805		0.627	DNM2-001	KNOWN	basic|CCDS	protein_coding	DNM2	HGNC	protein_coding	OTTHUMT00000452592.1	64	0.00	0	C	NM_004945		10922975	10922975	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000588392	ensembl	human	novel	69_37n	nonsense	63	17.95	14	SNP	1.000	T
DNM3	26052	genome.wustl.edu	37	1	172038040	172038040	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:172038040G>A	ENST00000355305.5	+	11	1574	c.1417G>A	c.(1417-1419)Gac>Aac	p.D473N	DNM3_ENST00000520906.1_Missense_Mutation_p.D473N|DNM3_ENST00000367731.1_Missense_Mutation_p.D473N|DNM3_ENST00000367733.2_Missense_Mutation_p.D473N|DNM3_ENST00000358155.4_Missense_Mutation_p.D473N			Q9UQ16	DYN3_HUMAN	dynamin 3	473					endocytosis (GO:0006897)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|synapse assembly (GO:0007416)	dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GAAGACAAAGGACCAGGTAAA	0.527																																						dbGAP											0													40.0	38.0	39.0					1																	172038040		1919	4114	6033	-	-	-	SO:0001583	missense	0			AL136712	CCDS44276.1, CCDS60356.1	1q24.1	2013-01-10			ENSG00000197959	ENSG00000197959		"""Pleckstrin homology (PH) domain containing"""	29125	protein-coding gene	gene with protein product	"""Dyna III"""	611445				10048485	Standard	NM_015569		Approved	KIAA0820	uc001gie.4	Q9UQ16	OTTHUMG00000034913	ENST00000355305.5:c.1417G>A	1.37:g.172038040G>A	ENSP00000347457:p.Asp473Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	Missense_Mutation	SNP	pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin	p.D473N	ENST00000355305.5	37	c.1417		1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.112940	0.77210	.	.	ENSG00000197959	ENST00000359070;ENST00000358155;ENST00000367733;ENST00000355305;ENST00000367731;ENST00000520906;ENST00000523513	T;T;T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68;-0.68;-0.68	5.45	4.53	0.55603	.	0.046372	0.85682	D	0.000000	T	0.66934	0.2840	M	0.64260	1.97	0.41191	D	0.986306	P;B;B;P	0.45768	0.755;0.007;0.008;0.866	P;B;B;P	0.51974	0.67;0.02;0.071;0.686	T	0.69304	-0.5180	10	0.45353	T	0.12	.	11.6728	0.51413	0.0:0.0:0.8229:0.1771	.	473;473;473;473	E5RHK8;Q9UQ16-2;Q9UQ16-3;Q6P2G1	.;.;.;.	N	473;473;473;473;473;473;363	ENSP00000350876:D473N;ENSP00000356707:D473N;ENSP00000347457:D473N;ENSP00000356705:D473N;ENSP00000429701:D473N;ENSP00000429416:D363N	ENSP00000347457:D473N	D	+	1	0	DNM3	170304663	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.712000	0.68407	1.284000	0.44531	0.585000	0.79938	GAC	DNM3	-	pfam_Dynamin_central	ENSG00000197959		0.527	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	DNM3	HGNC	protein_coding	OTTHUMT00000084531.1	65	0.00	0	G	NM_015569		172038040	172038040	+1	no_errors	ENST00000358155	ensembl	human	known	69_37n	missense	62	20.51	16	SNP	1.000	A
DNMBP	23268	genome.wustl.edu	37	10	101659737	101659737	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:101659737C>T	ENST00000324109.4	-	7	2732	c.2641G>A	c.(2641-2643)Gaa>Aaa	p.E881K	DNMBP_ENST00000543621.1_Missense_Mutation_p.E127K|DNMBP_ENST00000342239.3_Missense_Mutation_p.E881K|DNMBP_ENST00000540316.1_5'Flank	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	881	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TCGTAGATTTCAAGCAGCGCA	0.448																																						dbGAP											0													173.0	153.0	160.0					10																	101659737		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.2641G>A	10.37:g.101659737C>T	ENSP00000315659:p.Glu881Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_BAR_dom,prints_p67phox,prints_Spectrin_alpha_SH3,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain	p.E881K	ENST00000324109.4	37	c.2641	CCDS7485.1	10	.	.	.	.	.	.	.	.	.	.	C	28.4	4.914594	0.92178	.	.	ENSG00000107554	ENST00000342239;ENST00000324109;ENST00000393570;ENST00000543621;ENST00000370423;ENST00000422692	T;T;T;T	0.61742	0.08;0.08;0.08;0.08	5.48	5.48	0.80851	Dbl homology (DH) domain (5);	0.000000	0.49916	D	0.000123	T	0.64811	0.2632	L	0.31476	0.935	0.80722	D	1	D;P;D	0.58268	0.982;0.731;0.982	P;B;P	0.62649	0.905;0.397;0.905	T	0.59231	-0.7493	10	0.27785	T	0.31	-21.6957	19.7014	0.96054	0.0:1.0:0.0:0.0	.	881;127;881	Q6XZF7;Q6XZF7-2;Q5SVK8	DNMBP_HUMAN;.;.	K	881;881;127;127;169;169	ENSP00000344914:E881K;ENSP00000315659:E881K;ENSP00000443657:E127K;ENSP00000409476:E169K	ENSP00000315659:E881K	E	-	1	0	DNMBP	101649727	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.978000	0.70501	2.733000	0.93635	0.561000	0.74099	GAA	DNMBP	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000107554		0.448	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNMBP	HGNC	protein_coding	OTTHUMT00000049832.2	109	0.00	0	C	NM_015221		101659737	101659737	-1	no_errors	ENST00000342239	ensembl	human	known	69_37n	missense	34	56.96	45	SNP	1.000	T
DNMT3A	1788	genome.wustl.edu	37	2	25469176	25469176	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:25469176C>G	ENST00000264709.3	-	11	1619	c.1282G>C	c.(1282-1284)Gag>Cag	p.E428Q	DNMT3A_ENST00000402667.1_Missense_Mutation_p.E205Q|DNMT3A_ENST00000321117.5_Missense_Mutation_p.E428Q|DNMT3A_ENST00000380746.4_Missense_Mutation_p.E239Q|DNMT3A_ENST00000474887.1_5'Flank	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	428					C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGATTCTTCTCTTCTGGAGGA	0.587			"""Mis, F, N, S"""		AML																																	dbGAP		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	0													100.0	104.0	103.0					2																	25469176		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.1282G>C	2.37:g.25469176C>G	ENSP00000264709:p.Glu428Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	pfam_PWWP,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP,pfscan_PWWP	p.E428Q	ENST00000264709.3	37	c.1282	CCDS33157.1	2	.	.	.	.	.	.	.	.	.	.	C	22.2	4.257422	0.80246	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.96830	-4.14;-4.14;-4.14;-4.14	5.74	5.74	0.90152	.	0.066867	0.56097	D	0.000024	D	0.94128	0.8117	L	0.38175	1.15	0.80722	D	1	P;P	0.48640	0.913;0.886	B;B	0.43575	0.424;0.398	D	0.93742	0.7051	10	0.40728	T	0.16	-14.5205	17.4192	0.87510	0.0:1.0:0.0:0.0	.	428;239	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	Q	239;428;428;205	ENSP00000370122:E239Q;ENSP00000324375:E428Q;ENSP00000264709:E428Q;ENSP00000384237:E205Q	ENSP00000264709:E428Q	E	-	1	0	DNMT3A	25322680	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	5.533000	0.67160	2.710000	0.92621	0.655000	0.94253	GAG	DNMT3A	-	NULL	ENSG00000119772		0.587	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	HGNC	protein_coding	OTTHUMT00000211587.1	47	0.00	0	C	NM_022552		25469176	25469176	-1	no_errors	ENST00000264709	ensembl	human	known	69_37n	missense	47	16.07	9	SNP	1.000	G
DNMT3A	1788	genome.wustl.edu	37	2	25470018	25470018	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:25470018C>T	ENST00000264709.3	-	9	1361	c.1024G>A	c.(1024-1026)Gag>Aag	p.E342K	DNMT3A_ENST00000402667.1_Missense_Mutation_p.E119K|DNMT3A_ENST00000321117.5_Missense_Mutation_p.E342K|DNMT3A_ENST00000380746.4_Missense_Mutation_p.E153K|DNMT3A_ENST00000474887.1_5'Flank	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	342	Interaction with DNMT1 and DNMT3B.|PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCAGCTTCTCAACACACACC	0.597			"""Mis, F, N, S"""		AML																																	dbGAP		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	0													100.0	68.0	79.0					2																	25470018		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.1024G>A	2.37:g.25470018C>T	ENSP00000264709:p.Glu342Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	pfam_PWWP,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP,pfscan_PWWP	p.E342K	ENST00000264709.3	37	c.1024	CCDS33157.1	2	.	.	.	.	.	.	.	.	.	.	C	34	5.314804	0.95655	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35	4.63	4.63	0.57726	PWWP (3);	0.000000	0.85682	D	0.000000	T	0.75766	0.3894	L	0.57536	1.79	0.80722	D	1	D;D	0.59357	0.985;0.974	P;P	0.58520	0.84;0.797	T	0.78277	-0.2266	10	0.59425	D	0.04	-14.2329	16.2402	0.82402	0.0:1.0:0.0:0.0	.	342;153	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	K	153;342;342;119	ENSP00000370122:E153K;ENSP00000324375:E342K;ENSP00000264709:E342K;ENSP00000384237:E119K	ENSP00000264709:E342K	E	-	1	0	DNMT3A	25323522	1.000000	0.71417	0.992000	0.48379	0.987000	0.75469	4.736000	0.62059	2.401000	0.81631	0.655000	0.94253	GAG	DNMT3A	-	pfam_PWWP,smart_PWWP,pfscan_PWWP	ENSG00000119772		0.597	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	HGNC	protein_coding	OTTHUMT00000211587.1	52	0.00	0	C	NM_022552		25470018	25470018	-1	no_errors	ENST00000264709	ensembl	human	known	69_37n	missense	37	19.57	9	SNP	1.000	T
DNTTIP1	116092	genome.wustl.edu	37	20	44424004	44424004	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:44424004G>A	ENST00000372622.3	+	4	362	c.294G>A	c.(292-294)ctG>ctA	p.L98L		NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 1	98						nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				AGGCAGCACTGAACGTGCGAG	0.522																																						dbGAP											0													55.0	40.0	45.0					20																	44424004		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB035676	CCDS13369.1	20q13.12	2003-09-10	2003-09-10	2003-09-12	ENSG00000101457	ENSG00000101457			16160	protein-coding gene	gene with protein product	"""novel protein similar to synaptotagmin 1 (SYT1, P65) (isoform 1)"", ""TdT binding protein"""	611388	"""chromosome 20 open reading frame 167"""	C20orf167		11473582	Standard	NM_052951		Approved	dJ447F3.4, Tdif1	uc002xpk.3	Q9H147	OTTHUMG00000032610	ENST00000372622.3:c.294G>A	20.37:g.44424004G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RA18|Q96DE3|Q9BQP2|Q9H148	Silent	SNP	NULL	p.L98	ENST00000372622.3	37	c.294	CCDS13369.1	20																																																																																			DNTTIP1	-	NULL	ENSG00000101457		0.522	DNTTIP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNTTIP1	HGNC	protein_coding	OTTHUMT00000079502.1	45	0.00	0	G	NM_052951		44424004	44424004	+1	no_errors	ENST00000372622	ensembl	human	known	69_37n	silent	66	20.48	17	SNP	0.946	A
DNTTIP1	116092	genome.wustl.edu	37	20	44430644	44430645	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:44430644_44430645GG>AA	ENST00000372622.3	+	7	573_574	c.505_506GG>AA	c.(505-507)GGa>AAa	p.G169K		NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 1	169						nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				GCAGAGGAAAGGACGGCCTCCT	0.584																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AB035676	CCDS13369.1	20q13.12	2003-09-10	2003-09-10	2003-09-12	ENSG00000101457	ENSG00000101457			16160	protein-coding gene	gene with protein product	"""novel protein similar to synaptotagmin 1 (SYT1, P65) (isoform 1)"", ""TdT binding protein"""	611388	"""chromosome 20 open reading frame 167"""	C20orf167		11473582	Standard	NM_052951		Approved	dJ447F3.4, Tdif1	uc002xpk.3	Q9H147	OTTHUMG00000032610	Exception_encountered	20.37:g.44430644_44430645delinsAA	ENSP00000361705:p.Gly169Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RA18|Q96DE3|Q9BQP2|Q9H148	Missense_Mutation	SNP	NULL	p.G169R|p.G169E	ENST00000372622.3	37	c.505|c.506	CCDS13369.1	20																																																																																			DNTTIP1	-	NULL	ENSG00000101457		0.584	DNTTIP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNTTIP1	HGNC	protein_coding	OTTHUMT00000079502.1	60	0.00	0	G	NM_052951		44430644|44430645	44430644|44430645	+1	no_errors	ENST00000372622	ensembl	human	known	69_37n	missense	61|58	16.44|16.90	12	SNP	1.000	A
DNTTIP2	30836	genome.wustl.edu	37	1	94342230	94342230	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:94342230C>G	ENST00000436063.2	-	2	1318	c.1261G>C	c.(1261-1263)Gaa>Caa	p.E421Q	DNTTIP2_ENST00000460191.1_5'UTR	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	421					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		GTATCACATTCAAAATCTACA	0.408																																						dbGAP											0													252.0	245.0	247.0					1																	94342230		1997	4161	6158	-	-	-	SO:0001583	missense	0			AY394925	CCDS44174.1	1p22.1	2008-02-05			ENSG00000067334	ENSG00000067334			24013	protein-coding gene	gene with protein product	"""acidic 82 kDa protein mRNA"""	611199				15047147	Standard	NM_014597		Approved	HSU15552, ERBP, TdIF2	uc001dqf.3	Q5QJE6	OTTHUMG00000010268	ENST00000436063.2:c.1261G>C	1.37:g.94342230C>G	ENSP00000411010:p.Glu421Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q12987|Q53H59|Q5TFJ4|Q6TLI0|Q76MJ8|Q86WX9	Missense_Mutation	SNP	pfam_Fcf2	p.E421Q	ENST00000436063.2	37	c.1261	CCDS44174.1	1	.	.	.	.	.	.	.	.	.	.	C	11.37	1.617952	0.28801	.	.	ENSG00000067334	ENST00000436063	T	0.17691	2.26	5.14	3.13	0.36017	.	0.592511	0.16599	N	0.207416	T	0.14614	0.0353	M	0.67953	2.075	0.09310	N	1	D	0.56521	0.976	P	0.50934	0.654	T	0.02269	-1.1185	10	0.56958	D	0.05	.	10.3744	0.44073	0.0:0.8246:0.0:0.1754	.	421	Q5QJE6	TDIF2_HUMAN	Q	421	ENSP00000411010:E421Q	ENSP00000352137:E421Q	E	-	1	0	DNTTIP2	94114818	0.214000	0.23563	0.043000	0.18650	0.072000	0.16883	1.157000	0.31724	1.386000	0.46466	0.655000	0.94253	GAA	DNTTIP2	-	NULL	ENSG00000067334		0.408	DNTTIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNTTIP2	HGNC	protein_coding	OTTHUMT00000028317.2	117	0.00	0	C	NM_014597		94342230	94342230	-1	no_errors	ENST00000436063	ensembl	human	known	69_37n	missense	79	49.36	77	SNP	0.034	G
DOCK1	1793	genome.wustl.edu	37	10	128795088	128795088	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:128795088C>T	ENST00000280333.6	+	7	659	c.550C>T	c.(550-552)Ctc>Ttc	p.L184F		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	184					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CACGATTAGTCTCTTCAGAGC	0.368																																						dbGAP											0													209.0	198.0	201.0					10																	128795088		1844	4093	5937	-	-	-	SO:0001583	missense	0			D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.550C>T	10.37:g.128795088C>T	ENSP00000280333:p.Leu184Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A9Z1Z5	Missense_Mutation	SNP	pfam_DOCK,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c_dom,smart_SH3_domain,pfscan_SH3_domain	p.L184F	ENST00000280333.6	37	c.550		10	.	.	.	.	.	.	.	.	.	.	C	28.0	4.879020	0.91740	.	.	ENSG00000150760	ENST00000280333	T	0.60920	0.15	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.80798	0.4692	M	0.91717	3.235	0.80722	D	1	D;D	0.65815	0.995;0.974	D;P	0.64595	0.927;0.78	D	0.85251	0.1044	10	0.87932	D	0	.	18.7285	0.91724	0.0:1.0:0.0:0.0	.	184;184	B2RUU3;Q14185	.;DOCK1_HUMAN	F	184	ENSP00000280333:L184F	ENSP00000280333:L184F	L	+	1	0	DOCK1	128685078	1.000000	0.71417	0.993000	0.49108	0.966000	0.64601	7.181000	0.77682	2.665000	0.90641	0.655000	0.94253	CTC	DOCK1	-	NULL	ENSG00000150760		0.368	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	DOCK1	HGNC	protein_coding	OTTHUMT00000050979.2	148	0.00	0	C	NM_001380		128795088	128795088	+1	no_errors	ENST00000280333	ensembl	human	known	69_37n	missense	67	29.47	28	SNP	1.000	T
DOCK2	1794	genome.wustl.edu	37	5	169143298	169143298	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:169143298G>T	ENST00000256935.8	+	20	2103	c.2023G>T	c.(2023-2025)Gat>Tat	p.D675Y	DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.D167Y	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	675					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCTCGTCTTTGATGCCTTGGT	0.433																																						dbGAP											0													133.0	115.0	121.0					5																	169143298		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.2023G>T	5.37:g.169143298G>T	ENSP00000256935:p.Asp675Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M3I0|Q96AK7	Missense_Mutation	SNP	pfam_DOCK,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c_dom,superfamily_ARM-type_fold,superfamily_Ferritin/RR-like,smart_SH3_domain,pfscan_SH3_domain	p.D675Y	ENST00000256935.8	37	c.2023	CCDS4371.1	5	.	.	.	.	.	.	.	.	.	.	G	23.4	4.412242	0.83340	.	.	ENSG00000134516	ENST00000256935;ENST00000520908	T;T	0.21932	1.98;1.98	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.50803	0.1637	M	0.79011	2.435	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.54029	-0.8354	10	0.72032	D	0.01	.	19.1719	0.93581	0.0:0.0:1.0:0.0	.	167;675	E7ERW7;Q92608	.;DOCK2_HUMAN	Y	675;167	ENSP00000256935:D675Y;ENSP00000429283:D167Y	ENSP00000256935:D675Y	D	+	1	0	DOCK2	169075876	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	9.798000	0.99111	2.534000	0.85438	0.655000	0.94253	GAT	DOCK2	-	superfamily_ARM-type_fold	ENSG00000134516		0.433	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK2	HGNC	protein_coding	OTTHUMT00000252828.2	92	0.00	0	G	NM_004946		169143298	169143298	+1	no_errors	ENST00000256935	ensembl	human	known	69_37n	missense	52	17.46	11	SNP	1.000	T
DOCK2	1794	genome.wustl.edu	37	5	169508884	169508884	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:169508884G>A	ENST00000256935.8	+	51	5406	c.5326G>A	c.(5326-5328)Gag>Aag	p.E1776K	DOCK2_ENST00000540750.1_Missense_Mutation_p.E837K|DOCK2_ENST00000520908.1_Missense_Mutation_p.E1268K|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1776					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGGTTGGATGAGGCCAACAC	0.587																																						dbGAP											0													86.0	75.0	79.0					5																	169508884		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.5326G>A	5.37:g.169508884G>A	ENSP00000256935:p.Glu1776Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M3I0|Q96AK7	Missense_Mutation	SNP	pfam_DOCK,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c_dom,superfamily_ARM-type_fold,superfamily_Ferritin/RR-like,smart_SH3_domain,pfscan_SH3_domain	p.E1776K	ENST00000256935.8	37	c.5326	CCDS4371.1	5	.	.	.	.	.	.	.	.	.	.	G	18.50	3.637512	0.67130	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.10099	3.6;3.21;2.91	4.84	4.84	0.62591	.	0.669254	0.14654	N	0.306428	T	0.14056	0.0340	N	0.19112	0.55	0.09310	N	1	P;P;D	0.60575	0.953;0.7;0.988	P;B;P	0.54759	0.551;0.314;0.76	T	0.28138	-1.0053	10	0.18710	T	0.47	.	15.8186	0.78624	0.0:0.0:1.0:0.0	.	1268;332;1776	E7ERW7;B3KY14;Q92608	.;.;DOCK2_HUMAN	K	1776;1268;837	ENSP00000256935:E1776K;ENSP00000429283:E1268K;ENSP00000438827:E837K	ENSP00000256935:E1776K	E	+	1	0	DOCK2	169441462	0.999000	0.42202	0.013000	0.15412	0.253000	0.25986	4.009000	0.57110	2.368000	0.80403	0.655000	0.94253	GAG	DOCK2	-	NULL	ENSG00000134516		0.587	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK2	HGNC	protein_coding	OTTHUMT00000252828.2	49	0.00	0	G	NM_004946		169508884	169508884	+1	no_errors	ENST00000256935	ensembl	human	known	69_37n	missense	49	30.00	21	SNP	0.145	A
DOCK3	1795	genome.wustl.edu	37	3	51347742	51347742	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:51347742G>C	ENST00000266037.9	+	28	3025	c.3002G>C	c.(3001-3003)aGa>aCa	p.R1001T		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1001					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		ATGGTAATGAGACTGCTCACA	0.463																																						dbGAP											0													121.0	113.0	115.0					3																	51347742		1982	4157	6139	-	-	-	SO:0001583	missense	0			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.3002G>C	3.37:g.51347742G>C	ENSP00000266037:p.Arg1001Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	O15017	Missense_Mutation	SNP	pfam_DOCK,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.R1001T	ENST00000266037.9	37	c.3002	CCDS46835.1	3	.	.	.	.	.	.	.	.	.	.	G	25.5	4.643270	0.87859	.	.	ENSG00000088538	ENST00000266037	T	0.54866	0.55	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.72787	0.3504	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.66976	-0.5787	10	0.25751	T	0.34	.	20.1208	0.97960	0.0:0.0:1.0:0.0	.	1001	Q8IZD9	DOCK3_HUMAN	T	1001	ENSP00000266037:R1001T	ENSP00000266037:R1001T	R	+	2	0	DOCK3	51322782	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.758000	0.94735	0.655000	0.94253	AGA	DOCK3	-	superfamily_ARM-type_fold	ENSG00000088538		0.463	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK3	HGNC	protein_coding	OTTHUMT00000346478.5	136	0.00	0	G	NM_004947		51347742	51347742	+1	no_errors	ENST00000266037	ensembl	human	known	69_37n	missense	189	21.90	53	SNP	1.000	C
DOCK4	9732	genome.wustl.edu	37	7	111517158	111517158	+	Missense_Mutation	SNP	G	G	C	rs78428883		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:111517158G>C	ENST00000437633.1	-	17	1928	c.1672C>G	c.(1672-1674)Caa>Gaa	p.Q558E	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000428084.1_Missense_Mutation_p.Q558E	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	558	DHR-1.				cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TTCATGGCTTGATTATTATTC	0.353																																						dbGAP											0													58.0	60.0	59.0					7																	111517158		1825	4088	5913	-	-	-	SO:0001583	missense	0				CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.1672C>G	7.37:g.111517158G>C	ENSP00000404179:p.Gln558Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	O14584|O94824|Q8NB45	Missense_Mutation	SNP	pfam_DOCK,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_SH3_domain,pfscan_SH3_domain	p.Q558E	ENST00000437633.1	37	c.1672	CCDS47688.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.66|16.66	3.185137|3.185137	0.57909|0.57909	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000423057;ENST00000445943|ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250	.|T;T	.|0.27720	.|1.65;1.65	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	.|0.237663	.|0.45126	.|D	.|0.000386	T|T	0.32466|0.32466	0.0830|0.0830	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.33883	.|0.271;0.43;0.071	.|B;B;B	.|0.38156	.|0.266;0.266;0.181	T|T	0.08554|0.08554	-1.0716|-1.0716	5|10	.|0.02654	.|T	.|1	.|.	20.6397|20.6397	0.99537|0.99537	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|558;558;558	.|Q149N2;Q149N5;Q8N1I0	.|.;.;DOCK4_HUMAN	M|E	9;545|546;558;558;546;557	.|ENSP00000410746:Q558E;ENSP00000404179:Q558E	.|ENSP00000345432:Q546E	I|Q	-|-	3|1	3|0	DOCK4|DOCK4	111304394|111304394	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.464000|9.464000	0.97655|0.97655	2.880000|2.880000	0.98712|0.98712	0.650000|0.650000	0.86243|0.86243	ATC|CAA	DOCK4	-	NULL	ENSG00000128512		0.353	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK4	HGNC	protein_coding	OTTHUMT00000338369.4	102	0.00	0	G	NM_014705		111517158	111517158	-1	no_errors	ENST00000428084	ensembl	human	known	69_37n	missense	71	26.26	26	SNP	1.000	C
DOCK6	57572	genome.wustl.edu	37	19	11361612	11361612	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:11361612C>T	ENST00000294618.7	-	6	669	c.658G>A	c.(658-660)Gaa>Aaa	p.E220K		NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	220					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						CGAAGGGTTTCATTGCGCCGG	0.632																																						dbGAP											0													36.0	42.0	40.0					19																	11361612		1921	4110	6031	-	-	-	SO:0001583	missense	0				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.658G>A	19.37:g.11361612C>T	ENSP00000294618:p.Glu220Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP	pfam_DOCK,pfam_DUF3398	p.E220K	ENST00000294618.7	37	c.658	CCDS45975.1	19	.	.	.	.	.	.	.	.	.	.	C	13.00	2.106616	0.37145	.	.	ENSG00000130158	ENST00000294618	T	0.18810	2.19	4.87	4.87	0.63330	.	0.133496	0.52532	D	0.000066	T	0.14657	0.0354	L	0.28115	0.83	0.80722	D	1	P	0.36789	0.57	B	0.31946	0.138	T	0.04693	-1.0933	10	0.56958	D	0.05	-27.8112	12.6502	0.56757	0.0:0.8328:0.1672:0.0	.	220	Q96HP0	DOCK6_HUMAN	K	220	ENSP00000294618:E220K	ENSP00000294618:E220K	E	-	1	0	DOCK6	11222612	0.885000	0.30320	0.784000	0.31847	0.104000	0.19210	3.404000	0.52623	2.250000	0.74265	0.462000	0.41574	GAA	DOCK6	-	NULL	ENSG00000130158		0.632	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK6	HGNC	protein_coding	OTTHUMT00000453155.1	33	0.00	0	C	NM_020812		11361612	11361612	-1	no_errors	ENST00000294618	ensembl	human	known	69_37n	missense	19	26.92	7	SNP	0.985	T
DOCK6	57572	genome.wustl.edu	37	19	11364389	11364389	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:11364389C>G	ENST00000294618.7	-	2	69	c.58G>C	c.(58-60)Gag>Cag	p.E20Q		NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	20					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						TTCCGCACCTCTGCGGCCACC	0.627																																						dbGAP											0													7.0	10.0	9.0					19																	11364389		1884	4039	5923	-	-	-	SO:0001583	missense	0				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.58G>C	19.37:g.11364389C>G	ENSP00000294618:p.Glu20Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP	pfam_DOCK,pfam_DUF3398	p.E20Q	ENST00000294618.7	37	c.58	CCDS45975.1	19	.	.	.	.	.	.	.	.	.	.	C	21.5	4.155664	0.78114	.	.	ENSG00000130158	ENST00000294618	T	0.16897	2.31	5.32	4.27	0.50696	.	0.123175	0.52532	D	0.000065	T	0.30510	0.0767	M	0.77313	2.365	0.80722	D	1	P	0.36712	0.566	P	0.44477	0.451	T	0.06807	-1.0806	10	0.45353	T	0.12	-17.9736	14.1693	0.65497	0.1515:0.8484:0.0:0.0	.	20	Q96HP0	DOCK6_HUMAN	Q	20	ENSP00000294618:E20Q	ENSP00000294618:E20Q	E	-	1	0	DOCK6	11225389	1.000000	0.71417	0.765000	0.31456	0.769000	0.43574	6.651000	0.74372	1.210000	0.43336	0.655000	0.94253	GAG	DOCK6	-	NULL	ENSG00000130158		0.627	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK6	HGNC	protein_coding	OTTHUMT00000453155.1	13	0.00	0	C	NM_020812		11364389	11364389	-1	no_errors	ENST00000294618	ensembl	human	known	69_37n	missense	5	54.55	6	SNP	0.998	G
DOCK7	85440	genome.wustl.edu	37	1	63085640	63085640	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:63085640C>A	ENST00000340370.5	-	13	1467	c.1450G>T	c.(1450-1452)Gat>Tat	p.D484Y	DOCK7_ENST00000404627.2_Missense_Mutation_p.D484Y|DOCK7_ENST00000251157.5_Missense_Mutation_p.D484Y	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	484					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TTGTAGAGATCTTCATCACTT	0.383																																						dbGAP											0													77.0	76.0	76.0					1																	63085640		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.1450G>T	1.37:g.63085640C>A	ENSP00000340742:p.Asp484Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	pfam_DOCK,pfam_DUF3398,superfamily_ARM-type_fold	p.D484Y	ENST00000340370.5	37	c.1450	CCDS30734.1	1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.367978	0.82463	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370;ENST00000404627	T;T;T	0.39406	1.08;1.08;1.08	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.67239	0.2872	M	0.90542	3.125	0.80722	D	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	0.998;0.998;1.0;1.0;1.0	T	0.75728	-0.3216	10	0.87932	D	0	.	17.9243	0.88977	0.0:1.0:0.0:0.0	.	484;484;484;484;484	Q96NI0;Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3	.;.;.;.;.	Y	484	ENSP00000251157:D484Y;ENSP00000340742:D484Y;ENSP00000384446:D484Y	ENSP00000251157:D484Y	D	-	1	0	DOCK7	62858228	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.220000	0.78008	2.452000	0.82932	0.591000	0.81541	GAT	DOCK7	-	NULL	ENSG00000116641		0.383	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK7	HGNC	protein_coding	OTTHUMT00000036806.1	60	0.00	0	C	NM_033407		63085640	63085640	-1	no_errors	ENST00000251157	ensembl	human	known	69_37n	missense	31	18.42	7	SNP	1.000	A
DOCK8	81704	genome.wustl.edu	37	9	328024	328024	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:328024C>G	ENST00000453981.1	+	9	1009	c.897C>G	c.(895-897)atC>atG	p.I299M	DOCK8_ENST00000469391.1_Missense_Mutation_p.I231M|DOCK8_ENST00000432829.2_Missense_Mutation_p.I231M			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	299					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		ATTTACAGATCTCAGAAAATT	0.413																																						dbGAP											0													100.0	99.0	99.0					9																	328024		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.897C>G	9.37:g.328024C>G	ENSP00000408464:p.Ile299Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	pfam_DOCK,pfam_DUF3398,superfamily_ARM-type_fold	p.I299M	ENST00000453981.1	37	c.897	CCDS6440.2	9	.	.	.	.	.	.	.	.	.	.	C	16.82	3.228982	0.58777	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391	T;T;T	0.46451	0.87;0.87;0.87	5.9	3.69	0.42338	.	0.000000	0.85682	D	0.000000	T	0.66056	0.2751	M	0.87097	2.86	0.54753	D	0.999986	D;D	0.71674	0.998;0.994	D;D	0.75020	0.985;0.935	T	0.72456	-0.4288	10	0.87932	D	0	.	11.6004	0.50999	0.1275:0.7976:0.0:0.0749	.	231;299	E9PH09;Q8NF50	.;DOCK8_HUMAN	M	299;299;231;231	ENSP00000408464:I299M;ENSP00000394888:I231M;ENSP00000419438:I231M	ENSP00000287364:I299M	I	+	3	3	DOCK8	318024	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.803000	0.27083	1.459000	0.47892	0.650000	0.86243	ATC	DOCK8	-	NULL	ENSG00000107099		0.413	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK8	HGNC	protein_coding	OTTHUMT00000171792.5	114	0.00	0	C	XM_036307		328024	328024	+1	no_errors	ENST00000453981	ensembl	human	known	69_37n	missense	135	15.62	25	SNP	1.000	G
DOCK9	23348	genome.wustl.edu	37	13	99462537	99462537	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr13:99462537C>G	ENST00000376460.1	-	47	5219	c.5139G>C	c.(5137-5139)ctG>ctC	p.L1713L	DOCK9_ENST00000448493.2_3'UTR|DOCK9_ENST00000339416.2_Silent_p.L1714L	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1714	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GGAGCTCCATCAGCACATCCT	0.522																																						dbGAP											0													121.0	117.0	118.0					13																	99462537		2029	4191	6220	-	-	-	SO:0001819	synonymous_variant	0			AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"""Pleckstrin homology (PH) domain containing"""	14132	protein-coding gene	gene with protein product	"""zizimin1"""	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.5139G>C	13.37:g.99462537C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	pfam_DOCK,superfamily_ARM-type_fold	p.D278H	ENST00000376460.1	37	c.832	CCDS45062.1	13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.691|9.691	1.151909|1.151909	0.21371|0.21371	.|.	.|.	ENSG00000088387|ENSG00000088387	ENST00000400228|ENST00000419908	.|.	.|.	.|.	5.35|5.35	3.61|3.61	0.41365|0.41365	.|.	.|.	.|.	.|.	.|.	T|.	0.54565|.	0.1866|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.50923|.	-0.8770|.	4|.	.|.	.|.	.|.	.|.	5.6581|5.6581	0.17654|0.17654	0.1161:0.6266:0.1752:0.0821|0.1161:0.6266:0.1752:0.0821	.|.	.|.	.|.	.|.	H|S	278|131	.|.	.|.	D|X	-|-	1|2	0|2	DOCK9|DOCK9	98260538|98260538	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	1.998000|1.998000	0.40796|0.40796	1.257000|1.257000	0.44085|0.44085	0.563000|0.563000	0.77884|0.77884	GAT|TGA	DOCK9	-	superfamily_ARM-type_fold	ENSG00000088387		0.522	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK9	HGNC	protein_coding	OTTHUMT00000045566.1	46	0.00	0	C	NM_015296		99462537	99462537	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000400228	ensembl	human	known	69_37n	missense	71	12.35	10	SNP	1.000	G
DOCK9	23348	genome.wustl.edu	37	13	99540897	99540897	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr13:99540897G>A	ENST00000376460.1	-	16	1858	c.1778C>T	c.(1777-1779)tCa>tTa	p.S593L	DOCK9_ENST00000448493.2_Missense_Mutation_p.S605L|DOCK9_ENST00000339416.2_Missense_Mutation_p.S594L|DOCK9_ENST00000442173.1_Missense_Mutation_p.S593L	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	594					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AGGGAAGTCTGAGGAAACATT	0.318																																						dbGAP											0													122.0	117.0	119.0					13																	99540897		1834	4083	5917	-	-	-	SO:0001583	missense	0			AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"""Pleckstrin homology (PH) domain containing"""	14132	protein-coding gene	gene with protein product	"""zizimin1"""	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.1778C>T	13.37:g.99540897G>A	ENSP00000365643:p.Ser593Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	pfam_DOCK,pfam_DUF3398,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S594L	ENST00000376460.1	37	c.1781	CCDS45062.1	13	.	.	.	.	.	.	.	.	.	.	G	13.00	2.106041	0.37145	.	.	ENSG00000088387	ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000339416;ENST00000448493;ENST00000442173	T;T;T;T	0.20200	2.41;2.5;2.09;2.09	5.67	3.91	0.45181	.	0.125798	0.53938	D	0.000050	T	0.09291	0.0229	N	0.04508	-0.205	0.29002	N	0.887385	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.0;0.0;0.001;0.0	T	0.24368	-1.0162	9	.	.	.	.	10.9532	0.47343	0.0707:0.135:0.7943:0.0	.	594;593;593;593;594	A6H8Z6;E9PFM9;B3KX25;Q9BZ29-5;Q9BZ29	.;.;.;.;DOCK9_HUMAN	L	593;594;594;594;593;594;605;593	ENSP00000365643:S593L;ENSP00000341086:S594L;ENSP00000401958:S605L;ENSP00000406883:S593L	.	S	-	2	0	DOCK9	98338898	1.000000	0.71417	0.991000	0.47740	0.998000	0.95712	6.361000	0.73070	0.719000	0.32188	0.655000	0.94253	TCA	DOCK9	-	NULL	ENSG00000088387		0.318	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK9	HGNC	protein_coding	OTTHUMT00000045566.1	98	0.00	0	G	NM_015296		99540897	99540897	-1	no_errors	ENST00000339416	ensembl	human	known	69_37n	missense	37	64.76	68	SNP	1.000	A
DOK1	1796	genome.wustl.edu	37	2	74781924	74781924	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:74781924C>T	ENST00000233668.5	+	1	712	c.43C>T	c.(43-45)Cag>Tag	p.Q15*	DOK1_ENST00000409429.1_Intron|DOK1_ENST00000340004.6_Nonsense_Mutation_p.Q15*|LOXL3_ENST00000484369.1_5'Flank|LOXL3_ENST00000393937.2_5'Flank|LOXL3_ENST00000409986.1_5'Flank|DOK1_ENST00000480318.1_3'UTR|LOXL3_ENST00000264094.3_5'Flank|LOXL3_ENST00000409549.1_5'Flank|LOXL3_ENST00000409249.1_5'Flank	NM_001381.3	NP_001372.1	Q99704	DOK1_HUMAN	docking protein 1, 62kDa (downstream of tyrosine kinase 1)	15	PH.			MDGAVMEGPLFLQSQRFGTK -> RLPAQASATREREPRWS PFQ (in Ref. 3; AAB88182). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|insulin receptor signaling pathway (GO:0008286)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor signaling protein activity (GO:0005057)			endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						TTTGCAGAGTCAGCGCTTTGG	0.657																																					Esophageal Squamous(36;520 860 12502 33616 51270)	dbGAP											0													95.0	78.0	83.0					2																	74781924		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U70987	CCDS1954.1, CCDS56125.1	2p13	2008-05-21	2002-08-29		ENSG00000115325	ENSG00000115325			2990	protein-coding gene	gene with protein product		602919	"""docking protein 1, 62kD (downstream of tyrosine kinase 1)"""			9008160, 9790776, 15546884	Standard	NM_001381		Approved	p62dok	uc002sms.3	Q99704	OTTHUMG00000129956	ENST00000233668.5:c.43C>T	2.37:g.74781924C>T	ENSP00000233668:p.Gln15*	Somatic		WXS	Illumina GAIIx	Phase_IV	O43204|Q53TY2|Q9UHG6	Nonsense_Mutation	SNP	pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1	p.Q15*	ENST00000233668.5	37	c.43	CCDS1954.1	2	.	.	.	.	.	.	.	.	.	.	C	42	9.631064	0.99224	.	.	ENSG00000115325	ENST00000233668;ENST00000340004	.	.	.	3.93	3.04	0.35103	.	0.156412	0.45361	D	0.000366	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-18.7902	7.2406	0.26094	0.0:0.8766:0.0:0.1234	.	.	.	.	X	15	.	ENSP00000233668:Q15X	Q	+	1	0	DOK1	74635432	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.930000	0.40124	1.006000	0.39211	0.561000	0.74099	CAG	DOK1	-	smart_Pleckstrin_homology	ENSG00000115325		0.657	DOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOK1	HGNC	protein_coding	OTTHUMT00000252218.3	71	0.00	0	C	NM_001381		74781924	74781924	+1	no_errors	ENST00000233668	ensembl	human	known	69_37n	nonsense	66	16.46	13	SNP	1.000	T
DOK5	55816	genome.wustl.edu	37	20	53205257	53205257	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:53205257C>G	ENST00000262593.5	+	4	671	c.321C>G	c.(319-321)ctC>ctG	p.L107L	DOK5_ENST00000395939.1_5'UTR	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	107	PH.				MAPK cascade (GO:0000165)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)		receptor signaling protein activity (GO:0005057)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			GCAAAGTACTCCAGATGGAGT	0.463																																						dbGAP											0													143.0	141.0	142.0					20																	53205257		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF132732	CCDS13446.1, CCDS13447.1	20q13.2	2013-01-10	2002-11-28	2002-11-29	ENSG00000101134	ENSG00000101134		"""Pleckstrin homology (PH) domain containing"""	16173	protein-coding gene	gene with protein product		608334	"""chromosome 20 open reading frame 180"""	C20orf180		11470823	Standard	XM_005260451		Approved	dJ805C22.1	uc002xwy.3	Q9P104	OTTHUMG00000032778	ENST00000262593.5:c.321C>G	20.37:g.53205257C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T7Y0|Q5TE53|Q8TEW7|Q96H13|Q9BZ24|Q9NQF4|Q9Y411	Silent	SNP	pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1	p.L107	ENST00000262593.5	37	c.321	CCDS13446.1	20																																																																																			DOK5	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology	ENSG00000101134		0.463	DOK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOK5	HGNC	protein_coding	OTTHUMT00000079777.2	117	0.00	0	C			53205257	53205257	+1	no_errors	ENST00000262593	ensembl	human	known	69_37n	silent	129	19.88	32	SNP	1.000	G
DOK5	55816	genome.wustl.edu	37	20	53226984	53226984	+	Silent	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:53226984C>A	ENST00000262593.5	+	6	1007	c.657C>A	c.(655-657)atC>atA	p.I219I	DOK5_ENST00000395939.1_Silent_p.I111I	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	219	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				MAPK cascade (GO:0000165)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)		receptor signaling protein activity (GO:0005057)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			GGGAGGCCATCTATCAGAAAG	0.493																																						dbGAP											0													85.0	76.0	79.0					20																	53226984		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF132732	CCDS13446.1, CCDS13447.1	20q13.2	2013-01-10	2002-11-28	2002-11-29	ENSG00000101134	ENSG00000101134		"""Pleckstrin homology (PH) domain containing"""	16173	protein-coding gene	gene with protein product		608334	"""chromosome 20 open reading frame 180"""	C20orf180		11470823	Standard	XM_005260451		Approved	dJ805C22.1	uc002xwy.3	Q9P104	OTTHUMG00000032778	ENST00000262593.5:c.657C>A	20.37:g.53226984C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T7Y0|Q5TE53|Q8TEW7|Q96H13|Q9BZ24|Q9NQF4|Q9Y411	Silent	SNP	pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1	p.I219	ENST00000262593.5	37	c.657	CCDS13446.1	20																																																																																			DOK5	-	pfam_Insln_rcpt_S1,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1	ENSG00000101134		0.493	DOK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOK5	HGNC	protein_coding	OTTHUMT00000079777.2	46	0.00	0	C			53226984	53226984	+1	no_errors	ENST00000262593	ensembl	human	known	69_37n	silent	52	15.87	10	SNP	1.000	A
DXO	1797	genome.wustl.edu	37	6	31939383	31939383	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:31939383G>T	ENST00000375349.3	-	2	481	c.70C>A	c.(70-72)Cgt>Agt	p.R24S	STK19_ENST00000375331.2_5'Flank|DXO_ENST00000337523.5_Missense_Mutation_p.R24S|STK19_ENST00000375333.2_5'Flank|DXO_ENST00000478221.1_Intron|DXO_ENST00000375356.3_Missense_Mutation_p.R24S			O77932	DXO_HUMAN	decapping exoribonuclease	24					metabolic process (GO:0008152)|mRNA catabolic process (GO:0006402)|nuclear mRNA surveillance (GO:0071028)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA destabilization (GO:0050779)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|magnesium ion binding (GO:0000287)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA pyrophosphohydrolase activity (GO:0034353)										GGTGCTGGACGAGGTAGTTTG	0.582																																						dbGAP											0													104.0	117.0	112.0					6																	31939383		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF059252	CCDS4732.1	6p21.3	2013-09-11	2013-09-11	2013-09-11	ENSG00000204348	ENSG00000204348			2992	protein-coding gene	gene with protein product		605996	"""DOM-3 (C. elegans) homolog Z"", ""dom-3 homolog Z (C. elegans)"""	DOM3Z		9799600, 23523372	Standard	NM_005510		Approved		uc003nyp.1	O77932	OTTHUMG00000031272	ENST00000375349.3:c.70C>A	6.37:g.31939383G>T	ENSP00000364498:p.Arg24Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A2CER3|B0UZ80|O15004|O78127|O78128|Q5ST60|Q6IPZ2|Q9NPK4	Missense_Mutation	SNP	pfam_RAI1	p.R24S	ENST00000375349.3	37	c.70	CCDS4732.1	6	.	.	.	.	.	.	.	.	.	.	G	14.18	2.459484	0.43736	.	.	ENSG00000204348	ENST00000337523;ENST00000375349;ENST00000375356	T;T;T	0.17054	2.3;2.3;2.3	4.92	-0.241	0.13043	.	0.989594	0.08241	N	0.976062	T	0.01940	0.0061	N	0.08118	0	0.09310	N	0.999997	B;B	0.11235	0.004;0.0	B;B	0.04013	0.001;0.0	T	0.46048	-0.9219	10	0.38643	T	0.18	-0.8052	1.68	0.02830	0.1495:0.2485:0.3476:0.2544	.	24;24	F8WC68;O77932	.;DOM3Z_HUMAN	S	24	ENSP00000337759:R24S;ENSP00000364498:R24S;ENSP00000364505:R24S	ENSP00000337759:R24S	R	-	1	0	DOM3Z	32047362	0.000000	0.05858	0.002000	0.10522	0.573000	0.36030	-0.184000	0.09698	-0.259000	0.09432	0.561000	0.74099	CGT	DOM3Z	-	NULL	ENSG00000204348		0.582	DXO-006	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	DOM3Z	HGNC	protein_coding	OTTHUMT00000076592.3	54	0.00	0	G			31939383	31939383	-1	no_errors	ENST00000337523	ensembl	human	known	69_37n	missense	64	29.67	27	SNP	0.000	T
DPCR1	135656	genome.wustl.edu	37	6	30918809	30918809	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:30918809C>G	ENST00000462446.1	+	2	2596	c.2568C>G	c.(2566-2568)ttC>ttG	p.F856L	DPCR1_ENST00000304311.2_5'UTR|HCG21_ENST00000419481.1_RNA			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	300						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						CCACACCATTCCCAGCAGAGC	0.468																																						dbGAP											0													75.0	68.0	70.0					6																	30918809		692	1591	2283	-	-	-	SO:0001583	missense	0			AB064272	CCDS4692.1, CCDS4692.2	6p21.32	2008-02-05			ENSG00000168631	ENSG00000168631			21666	protein-coding gene	gene with protein product		613928				12185533, 10677310	Standard	NM_080870		Approved	PBLT, bCX105N19.6	uc003nsg.2	Q3MIW9	OTTHUMG00000031104	ENST00000462446.1:c.2568C>G	6.37:g.30918809C>G	ENSP00000417182:p.Phe856Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	C9IZC0|Q658M7|Q8WYN2	Missense_Mutation	SNP	NULL	p.F856L	ENST00000462446.1	37	c.2568	CCDS4692.2	6	.	.	.	.	.	.	.	.	.	.	c	0.091	-1.167830	0.01660	.	.	ENSG00000168631	ENST00000462446	T	0.41065	1.01	0.771	0.771	0.18504	.	.	.	.	.	T	0.09730	0.0239	N	0.22421	0.69	0.41431	D	0.987862	B	0.20671	0.047	B	0.09377	0.004	T	0.11324	-1.0592	9	0.28530	T	0.3	.	3.9257	0.09262	0.416:0.5839:0.0:0.0	.	856	E9PEI6	.	L	856	ENSP00000417182:F856L	ENSP00000417182:F856L	F	+	3	2	DPCR1	31026788	0.000000	0.05858	0.017000	0.16124	0.025000	0.11179	-1.491000	0.02302	0.708000	0.31955	0.165000	0.16767	TTC	DPCR1	-	NULL	ENSG00000168631		0.468	DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	DPCR1	HGNC	protein_coding	OTTHUMT00000076173.3	142	0.00	0	C	NM_080870		30918809	30918809	+1	no_errors	ENST00000462446	ensembl	human	novel	69_37n	missense	90	23.73	28	SNP	0.697	G
DOPEY1	23033	genome.wustl.edu	37	6	83863761	83863761	+	Splice_Site	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:83863761C>A	ENST00000349129.2	+	32	6648	c.6388C>A	c.(6388-6390)Cat>Aat	p.H2130N	DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Splice_Site_p.H2121N|DOPEY1_ENST00000237163.5_Splice_Site_p.H2060N	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	2130					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TTGTGTTAATCAGTAAGTTGC	0.403																																						dbGAP											0													193.0	189.0	191.0					6																	83863761		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.6389+1C>A	6.37:g.83863761C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	pfam_Dopey_N,superfamily_ARM-type_fold	p.H2130N	ENST00000349129.2	37	c.6388	CCDS4996.1	6	.	.	.	.	.	.	.	.	.	.	C	19.40	3.821057	0.71028	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T	0.40225	1.04;1.96	4.94	4.94	0.65067	.	0.140753	0.64402	N	0.000005	T	0.52108	0.1714	L	0.60455	1.87	0.80722	D	1	D;D;D	0.60575	0.988;0.974;0.974	D;P;P	0.63381	0.914;0.829;0.678	T	0.51309	-0.8722	10	0.51188	T	0.08	.	18.3686	0.90399	0.0:1.0:0.0:0.0	.	2021;2121;2130	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	N	2130;2060;2060	ENSP00000195654:H2130N;ENSP00000237163:H2060N	ENSP00000237163:H2060N	H	+	1	0	DOPEY1	83920480	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	7.294000	0.78760	2.584000	0.87258	0.557000	0.71058	CAT	DOPEY1	-	superfamily_ARM-type_fold	ENSG00000083097		0.403	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY1	HGNC	protein_coding	OTTHUMT00000043785.2	193	0.00	0	C	NM_015018	Missense_Mutation	83863761	83863761	+1	no_errors	ENST00000349129	ensembl	human	known	69_37n	missense	130	23.08	39	SNP	1.000	A
DPP10	57628	genome.wustl.edu	37	2	116503733	116503733	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:116503733C>T	ENST00000410059.1	+	10	1404	c.924C>T	c.(922-924)ctC>ctT	p.L308L	DPP10_ENST00000310323.8_Silent_p.L301L|DPP10_ENST00000409163.1_Silent_p.L258L|DPP10_ENST00000393147.2_Silent_p.L312L	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	308						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CTTTGGAGCTCATGCCACCTG	0.343																																						dbGAP											0													111.0	103.0	106.0					2																	116503733		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.924C>T	2.37:g.116503733C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Silent	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.L312	ENST00000410059.1	37	c.936	CCDS46400.1	2																																																																																			DPP10	-	pfam_Peptidase_S9B	ENSG00000175497		0.343	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DPP10	HGNC	protein_coding	OTTHUMT00000330580.4	84	0.00	0	C	NM_020868		116503733	116503733	+1	no_errors	ENST00000393147	ensembl	human	known	69_37n	silent	85	20.56	22	SNP	0.876	T
DPP6	1804	genome.wustl.edu	37	7	154172044	154172044	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:154172044C>G	ENST00000377770.3	+	3	520	c.379C>G	c.(379-381)Caa>Gaa	p.Q127E	DPP6_ENST00000332007.3_Missense_Mutation_p.Q65E|DPP6_ENST00000404039.1_Missense_Mutation_p.Q63E|DPP6_ENST00000427557.1_Missense_Mutation_p.Q65E|DPP6_ENST00000406326.1_Missense_Mutation_p.Q127E|DPP6_ENST00000496611.1_3'UTR			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	127					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)			TAGTCTGTCTCAAAAGAAGAA	0.378																																					NSCLC(125;1384 1783 2490 7422 34254)	dbGAP											0													78.0	75.0	76.0					7																	154172044		1864	4094	5958	-	-	-	SO:0001583	missense	0			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.379C>G	7.37:g.154172044C>G	ENSP00000367001:p.Gln127Glu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40	p.Q127E	ENST00000377770.3	37	c.379		7	.	.	.	.	.	.	.	.	.	.	C	12.56	1.974267	0.34848	.	.	ENSG00000130226	ENST00000404039;ENST00000406326;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0	5.16	5.16	0.70880	.	0.250964	0.38164	N	0.001792	T	0.40791	0.1131	.	.	.	0.36025	D	0.839035	B;B;B;P;P;P	0.48834	0.13;0.43;0.43;0.488;0.916;0.488	B;B;B;B;P;B	0.46362	0.119;0.212;0.212;0.142;0.514;0.142	T	0.44375	-0.9332	9	0.25751	T	0.34	-18.1811	14.502	0.67729	0.0:1.0:0.0:0.0	.	65;65;65;127;127;63	E9PDL2;B7Z1K3;P42658-2;P42658;Q8IYG9;E9PF59	.;.;.;DPP6_HUMAN;.;.	E	63;127;127;65;65	ENSP00000385578:Q63E;ENSP00000384393:Q127E;ENSP00000367001:Q127E;ENSP00000328226:Q65E;ENSP00000397303:Q65E	ENSP00000328226:Q65E	Q	+	1	0	DPP6	153802977	0.985000	0.35326	0.999000	0.59377	0.944000	0.59088	3.183000	0.50918	2.533000	0.85409	0.650000	0.86243	CAA	DPP6	-	NULL	ENSG00000130226		0.378	DPP6-003	KNOWN	basic|appris_principal	protein_coding	DPP6	HGNC	protein_coding	OTTHUMT00000322932.1	56	0.00	0	C	NM_130797		154172044	154172044	+1	no_errors	ENST00000377770	ensembl	human	known	69_37n	missense	55	16.67	11	SNP	0.994	G
DPP6	1804	genome.wustl.edu	37	7	154659713	154659713	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:154659713G>C	ENST00000377770.3	+	18	1864	c.1723G>C	c.(1723-1725)Gac>Cac	p.D575H	RP11-476H24.1_ENST00000448767.1_RNA|DPP6_ENST00000332007.3_Missense_Mutation_p.D513H|DPP6_ENST00000404039.1_Missense_Mutation_p.D511H|DPP6_ENST00000427557.1_Missense_Mutation_p.D468H			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	575					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)			AGAAATGTTTGACCTAGAAAC	0.448																																					NSCLC(125;1384 1783 2490 7422 34254)	dbGAP											0													74.0	70.0	71.0					7																	154659713		1898	4134	6032	-	-	-	SO:0001583	missense	0			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.1723G>C	7.37:g.154659713G>C	ENSP00000367001:p.Asp575His	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40	p.D575H	ENST00000377770.3	37	c.1723		7	.	.	.	.	.	.	.	.	.	.	G	8.589	0.884145	0.17467	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	4.92	4.92	0.64577	.	0.300273	0.41500	D	0.000871	T	0.42359	0.1199	L	0.61036	1.89	0.40405	D	0.979693	B;P;D;P	0.56746	0.396;0.779;0.977;0.839	B;P;P;B	0.48598	0.289;0.583;0.458;0.379	T	0.49293	-0.8955	10	0.62326	D	0.03	-36.2193	18.1492	0.89669	0.0:0.0:1.0:0.0	.	468;513;575;511	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	H	511;575;513;468	ENSP00000385578:D511H;ENSP00000367001:D575H;ENSP00000328226:D513H;ENSP00000397303:D468H	ENSP00000328226:D513H	D	+	1	0	DPP6	154290646	1.000000	0.71417	0.940000	0.37924	0.031000	0.12232	4.411000	0.59781	2.271000	0.75665	0.655000	0.94253	GAC	DPP6	-	NULL	ENSG00000130226		0.448	DPP6-003	KNOWN	basic|appris_principal	protein_coding	DPP6	HGNC	protein_coding	OTTHUMT00000322932.1	60	0.00	0	G	NM_130797		154659713	154659713	+1	no_errors	ENST00000377770	ensembl	human	known	69_37n	missense	48	21.31	13	SNP	0.992	C
DPP8	54878	genome.wustl.edu	37	15	65804679	65804679	+	Silent	SNP	C	C	T	rs376559621		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:65804679C>T	ENST00000341861.5	-	2	1841	c.261G>A	c.(259-261)aaG>aaA	p.K87K	DPP8_ENST00000321147.6_Silent_p.K87K|DPP8_ENST00000339244.5_Silent_p.K87K|DPP8_ENST00000358939.4_Silent_p.K71K|DPP8_ENST00000559233.1_Silent_p.K87K|DPP8_ENST00000300141.6_Silent_p.K71K|DPP8_ENST00000321118.7_Silent_p.K87K	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	87					immune response (GO:0006955)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GATCATTCCTCTTCACAAACA	0.403																																						dbGAP											0													117.0	105.0	109.0					15																	65804679		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0			AF221634	CCDS10207.1, CCDS10208.1, CCDS10209.1, CCDS10210.1	15q22	2008-07-18	2006-01-12		ENSG00000074603	ENSG00000074603			16490	protein-coding gene	gene with protein product	"""dipeptidyl peptidase VIII"", ""dipeptidyl peptidase IV-related protein-1"", ""prolyl dipeptidase DPP8"""	606819	"""dipeptidylpeptidase 8"""			11012666	Standard	XM_005254500		Approved	DP8, DPRP1, MSTP141, FLJ14920, FLJ20283, MGC26191	uc002aox.3	Q6V1X1	OTTHUMG00000133150	ENST00000341861.5:c.261G>A	15.37:g.65804679C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z4C8|Q7Z4D3|Q7Z4E1|Q8IWG7|Q8NEM5|Q96JX1|Q9HBM2|Q9HBM3|Q9HBM4|Q9HBM5|Q9NXF4	Silent	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_X-Pro-like_dom	p.K87	ENST00000341861.5	37	c.261	CCDS10207.1	15																																																																																			DPP8	-	NULL	ENSG00000074603		0.403	DPP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DPP8	HGNC	protein_coding	OTTHUMT00000256847.1	106	0.93	1	C	NM_017743		65804679	65804679	-1	no_errors	ENST00000341861	ensembl	human	known	69_37n	silent	50	49.50	50	SNP	1.000	T
DPP9	91039	genome.wustl.edu	37	19	4689735	4689735	+	Splice_Site	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:4689735C>T	ENST00000598800.1	-	16	2015		c.e16-1		DPP9_ENST00000262960.9_Splice_Site|DPP9_ENST00000594671.1_Splice_Site			Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9							cytoplasm (GO:0005737)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|identical protein binding (GO:0042802)|serine-type peptidase activity (GO:0008236)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		TGACCCAGATCTGCAGGGGGA	0.657																																						dbGAP											0													48.0	54.0	52.0					19																	4689735		2015	4077	6092	-	-	-	SO:0001630	splice_region_variant	0			AF452102	CCDS45928.1	19p13.3	2014-06-11	2006-01-12		ENSG00000142002	ENSG00000142002			18648	protein-coding gene	gene with protein product		608258	"""dipeptidylpeptidase 9"""				Standard	NM_139159		Approved		uc002mba.3	Q86TI2	OTTHUMG00000182040	ENST00000598800.1:c.1510-1G>A	19.37:g.4689735C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O75273|O75868|Q1ZZB8|Q6AI37|Q6UAL0|Q6ZMT2|Q6ZNJ5|Q8N2J7|Q8N3F5|Q8WXD8|Q96NT8|Q9BVR3	Splice_Site	SNP	-	e13-1	ENST00000598800.1	37	c.1597-1		19	.	.	.	.	.	.	.	.	.	.	C	20.7	4.032399	0.75504	.	.	ENSG00000142002	ENST00000357909;ENST00000381797;ENST00000262960	.	.	.	3.85	3.85	0.44370	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3585	0.74448	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DPP9	4640735	1.000000	0.71417	0.999000	0.59377	0.916000	0.54674	5.787000	0.69013	2.165000	0.68154	0.505000	0.49811	.	DPP9	-	-	ENSG00000142002		0.657	DPP9-026	NOVEL	basic	protein_coding	DPP9	HGNC	protein_coding	OTTHUMT00000459343.2	31	0.00	0	C		Intron	4689735	4689735	-1	no_errors	ENST00000262960	ensembl	human	known	69_37n	splice_site	45	13.46	7	SNP	1.000	T
DPPA3	359787	genome.wustl.edu	37	12	7869636	7869636	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:7869636G>C	ENST00000345088.2	+	4	560	c.443G>C	c.(442-444)aGa>aCa	p.R148T		NM_199286.2	NP_954980.1	Q6W0C5	DPPA3_HUMAN	developmental pluripotency associated 3	148					chromatin modification (GO:0016568)|embryonic cleavage (GO:0040016)|negative regulation of DNA demethylation (GO:1901536)|protection of DNA demethylation of female pronucleus (GO:0044726)|regulation of genetic imprinting (GO:2000653)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		GAGAATGCTAGAATAGGGAAT	0.373																																						dbGAP											0													87.0	90.0	89.0					12																	7869636		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY317075	CCDS8582.1	12p13.31	2012-10-02			ENSG00000187569	ENSG00000187569			19199	protein-coding gene	gene with protein product		608408					Standard	NM_199286		Approved	Stella	uc001qtf.3	Q6W0C5	OTTHUMG00000168434	ENST00000345088.2:c.443G>C	12.37:g.7869636G>C	ENSP00000339250:p.Arg148Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0P5U3|Q6JZS6	Missense_Mutation	SNP	NULL	p.R148T	ENST00000345088.2	37	c.443	CCDS8582.1	12	.	.	.	.	.	.	.	.	.	.	G	6.038	0.375302	0.11409	.	.	ENSG00000187569	ENST00000345088	T	0.44482	0.92	2.34	-0.723	0.11181	.	.	.	.	.	T	0.24774	0.0601	N	0.19112	0.55	0.09310	N	1	P	0.46512	0.879	B	0.42030	0.373	T	0.12604	-1.0541	9	0.51188	T	0.08	.	5.0484	0.14496	0.561:0.0:0.439:0.0	.	148	Q6W0C5	DPPA3_HUMAN	T	148	ENSP00000339250:R148T	ENSP00000339250:R148T	R	+	2	0	DPPA3	7760903	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-0.723000	0.04952	-0.184000	0.10567	-0.379000	0.06801	AGA	DPPA3	-	NULL	ENSG00000187569		0.373	DPPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPPA3	HGNC	protein_coding	OTTHUMT00000399718.1	100	0.00	0	G	NM_199286		7869636	7869636	+1	no_errors	ENST00000345088	ensembl	human	known	69_37n	missense	49	25.76	17	SNP	0.000	C
DPY19L2	283417	genome.wustl.edu	37	12	64015112	64015112	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:64015112G>C	ENST00000324472.4	-	9	1142	c.959C>G	c.(958-960)tCa>tGa	p.S320*	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	320					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		ATCATTGCTTGAGGTCCTTAA	0.358																																						dbGAP											0													2.0	2.0	2.0					12																	64015112		1285	2849	4134	-	-	-	SO:0001587	stop_gained	0				CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"""spermatogenesis associated 34"""	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.959C>G	12.37:g.64015112G>C	ENSP00000315988:p.Ser320*	Somatic		WXS	Illumina GAIIx	Phase_IV	A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Nonsense_Mutation	SNP	pfam_Dpy-19	p.S320*	ENST00000324472.4	37	c.959	CCDS31851.1	12	.	.	.	.	.	.	.	.	.	.	G	26.1	4.706646	0.89018	.	.	ENSG00000177990	ENST00000324472	.	.	.	2.46	0.088	0.14452	.	1.001340	0.08055	U	0.997219	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.5197	0.11954	0.0:0.2124:0.3565:0.4311	.	.	.	.	X	320	.	.	S	-	2	0	DPY19L2	62301379	0.279000	0.24239	0.009000	0.14445	0.410000	0.31052	1.973000	0.40550	0.356000	0.24157	0.121000	0.15741	TCA	DPY19L2	-	pfam_Dpy-19	ENSG00000177990		0.358	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPY19L2	HGNC	protein_coding	OTTHUMT00000400689.2	23	0.00	0	G	NM_173812		64015112	64015112	-1	no_errors	ENST00000324472	ensembl	human	known	69_37n	nonsense	22	24.14	7	SNP	0.016	C
DPYD	1806	genome.wustl.edu	37	1	97770898	97770898	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:97770898G>C	ENST00000370192.3	-	18	2316	c.2216C>G	c.(2215-2217)tCa>tGa	p.S739*	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	739					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)	CATCAGACCTGAGACAGTGTT	0.468																																						dbGAP											0													201.0	170.0	180.0					1																	97770898		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			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.2216C>G	1.37:g.97770898G>C	ENSP00000359211:p.Ser739*	Somatic		WXS	Illumina GAIIx	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.S739*	ENST00000370192.3	37	c.2216	CCDS30777.1	1	.	.	.	.	.	.	.	.	.	.	G	40	8.086459	0.98646	.	.	ENSG00000188641	ENST00000370192	.	.	.	5.55	4.62	0.57501	.	0.080084	0.52532	D	0.000065	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-12.7302	15.3216	0.74126	0.0705:0.0:0.9295:0.0	.	.	.	.	X	739	.	ENSP00000359211:S739X	S	-	2	0	DPYD	97543486	1.000000	0.71417	0.984000	0.44739	0.911000	0.54048	7.526000	0.81920	2.773000	0.95371	0.585000	0.79938	TCA	DPYD	-	pfam_Dihydroorotate_DH_1_2,tigrfam_Dihydroorotate_DH	ENSG00000188641		0.468	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYD	HGNC	protein_coding	OTTHUMT00000095698.3	110	0.00	0	G	NM_000110		97770898	97770898	-1	no_errors	ENST00000370192	ensembl	human	known	69_37n	nonsense	74	30.19	32	SNP	1.000	C
DPYSL3	1809	genome.wustl.edu	37	5	146780345	146780345	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:146780345C>T	ENST00000398514.3	-	10	1391	c.1020G>A	c.(1018-1020)caG>caA	p.Q340Q	DPYSL3_ENST00000534907.1_Intron|DPYSL3_ENST00000343218.5_Silent_p.Q454Q|CTB-108O6.2_ENST00000607270.1_RNA	NM_001387.2	NP_001378.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	340					actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cell migration (GO:0030336)|negative regulation of neuron projection development (GO:0010977)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron projection development (GO:0010976)|protein homooligomerization (GO:0051260)|pyrimidine nucleobase catabolic process (GO:0006208)|response to axon injury (GO:0048678)	cell body (GO:0044297)|cytosol (GO:0005829)|extracellular space (GO:0005615)|filamentous actin (GO:0031941)|growth cone (GO:0030426)|lamellipodium (GO:0030027)	chondroitin sulfate binding (GO:0035374)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)|SH3 domain binding (GO:0017124)			breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAATTGCTTTCTGGGCAGTGC	0.562																																						dbGAP											0													109.0	114.0	112.0					5																	146780345		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			D78014	CCDS43381.1, CCDS56387.1	5q32	2008-02-05							3015	protein-coding gene	gene with protein product		601168				8973361, 9115293	Standard	NM_001197294		Approved	DRP-3, ULIP, CRMP4	uc003loo.3	Q14195		ENST00000398514.3:c.1020G>A	5.37:g.146780345C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3SXQ8|Q93012	Missense_Mutation	SNP	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite	p.E39K	ENST00000398514.3	37	c.115	CCDS43381.1	5	.	.	.	.	.	.	.	.	.	.	C	10.27	1.304687	0.23736	.	.	ENSG00000113657	ENST00000520473	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	T	0.69513	0.3119	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66956	-0.5792	4	.	.	.	-23.6366	14.0506	0.64734	0.0:0.9276:0.0:0.0724	.	.	.	.	K	39	.	.	E	-	1	0	DPYSL3	146760538	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.862000	0.62976	2.761000	0.94854	0.650000	0.86243	GAA	DPYSL3	-	pfam_Amidohydro_1	ENSG00000113657		0.562	DPYSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYSL3	HGNC	protein_coding	OTTHUMT00000373421.2	127	0.00	0	C	NM_001387		146780345	146780345	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000520473	ensembl	human	novel	69_37n	missense	116	26.11	41	SNP	1.000	T
DPYSL3	1809	genome.wustl.edu	37	5	146798120	146798120	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:146798120C>T	ENST00000398514.3	-	3	574	c.203G>A	c.(202-204)gGa>gAa	p.G68E	DPYSL3_ENST00000534907.1_Intron|DPYSL3_ENST00000343218.5_Missense_Mutation_p.G182E	NM_001387.2	NP_001378.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	68					actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cell migration (GO:0030336)|negative regulation of neuron projection development (GO:0010977)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron projection development (GO:0010976)|protein homooligomerization (GO:0051260)|pyrimidine nucleobase catabolic process (GO:0006208)|response to axon injury (GO:0048678)	cell body (GO:0044297)|cytosol (GO:0005829)|extracellular space (GO:0005615)|filamentous actin (GO:0031941)|growth cone (GO:0030426)|lamellipodium (GO:0030027)	chondroitin sulfate binding (GO:0035374)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)|SH3 domain binding (GO:0017124)			breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCGATGCCTCCAGGGATCAC	0.463																																						dbGAP											0													207.0	206.0	206.0					5																	146798120		2059	4221	6280	-	-	-	SO:0001583	missense	0			D78014	CCDS43381.1, CCDS56387.1	5q32	2008-02-05							3015	protein-coding gene	gene with protein product		601168				8973361, 9115293	Standard	NM_001197294		Approved	DRP-3, ULIP, CRMP4	uc003loo.3	Q14195		ENST00000398514.3:c.203G>A	5.37:g.146798120C>T	ENSP00000381526:p.Gly68Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B3SXQ8|Q93012	Missense_Mutation	SNP	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.G68E	ENST00000398514.3	37	c.203	CCDS43381.1	5	.	.	.	.	.	.	.	.	.	.	C	35	5.572459	0.96553	.	.	ENSG00000113657	ENST00000398514;ENST00000343218;ENST00000512722	D;D;D	0.99557	-6.16;-6.16;-3.87	6.17	6.17	0.99709	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	D	0.99829	0.9923	H	0.97240	3.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97171	0.9844	10	0.87932	D	0	-17.8899	20.8794	0.99867	0.0:1.0:0.0:0.0	.	182;68	B3SXQ8;Q14195	.;DPYL3_HUMAN	E	68;182;68	ENSP00000381526:G68E;ENSP00000343690:G182E;ENSP00000426720:G68E	ENSP00000343690:G182E	G	-	2	0	DPYSL3	146778313	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.776000	0.85560	2.941000	0.99782	0.655000	0.94253	GGA	DPYSL3	-	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	ENSG00000113657		0.463	DPYSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYSL3	HGNC	protein_coding	OTTHUMT00000373421.2	85	0.00	0	C	NM_001387		146798120	146798120	-1	no_errors	ENST00000398514	ensembl	human	known	69_37n	missense	85	21.82	24	SNP	1.000	T
DRD4	1815	genome.wustl.edu	37	11	640489	640489	+	Silent	SNP	C	C	G	rs370350460		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:640489C>G	ENST00000176183.5	+	4	1158	c.1146C>G	c.(1144-1146)gtC>gtG	p.V382V		NM_000797.3	NP_000788.2	P21917	DRD4_HUMAN	dopamine receptor D4	430					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult locomotory behavior (GO:0008344)|arachidonic acid secretion (GO:0050482)|behavioral fear response (GO:0001662)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|cellular calcium ion homeostasis (GO:0006874)|circadian rhythm (GO:0007623)|dopamine metabolic process (GO:0042417)|dopamine receptor signaling pathway (GO:0007212)|fear response (GO:0042596)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein secretion (GO:0050709)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|olfactory learning (GO:0008355)|photoperiodism (GO:0009648)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of kinase activity (GO:0033674)|positive regulation of penile erection (GO:0060406)|positive regulation of sodium:proton antiporter activity (GO:0032417)|regulation of calcium-mediated signaling (GO:0050848)|regulation of circadian rhythm (GO:0042752)|regulation of dopamine metabolic process (GO:0042053)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of neurotransmitter secretion (GO:0046928)|response to amphetamine (GO:0001975)|response to histamine (GO:0034776)|response to steroid hormone (GO:0048545)|retina development in camera-type eye (GO:0060041)|short-term memory (GO:0007614)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)	cell cortex (GO:0005938)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|vesicle membrane (GO:0012506)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)|SH3 domain binding (GO:0017124)			NS(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.36e-28)|Epithelial(43;2.59e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Ziprasidone(DB00246)	CGCGGCTGGTCAGCGCCGTCA	0.677																																						dbGAP											0													73.0	61.0	65.0					11																	640489		2199	4297	6496	-	-	-	SO:0001819	synonymous_variant	0			L12398	CCDS7710.1	11p15.5	2012-08-08			ENSG00000069696	ENSG00000069696		"""GPCR / Class A : Dopamine receptors"""	3025	protein-coding gene	gene with protein product		126452					Standard	NM_000797		Approved		uc001lqp.2	P21917	OTTHUMG00000133312	ENST00000176183.5:c.1146C>G	11.37:g.640489C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B0M0J7|Q7Z7Q5|Q8NGM5	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Dopa_D4_rcpt,prints_Dopamine_rcpt	p.V382	ENST00000176183.5	37	c.1146	CCDS7710.1	11																																																																																			DRD4	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Dopamine_rcpt	ENSG00000069696		0.677	DRD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DRD4	HGNC	protein_coding	OTTHUMT00000257109.1	27	0.00	0	C	NM_000797		640489	640489	+1	no_errors	ENST00000176183	ensembl	human	known	69_37n	silent	15	28.57	6	SNP	1.000	G
DRD5	1816	genome.wustl.edu	37	4	9784334	9784334	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:9784334C>G	ENST00000304374.2	+	1	1077	c.681C>G	c.(679-681)atC>atG	p.I227M		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	227					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	CCTACGCCATCTCTTCCTCGC	0.567																																						dbGAP											0													78.0	71.0	73.0					4																	9784334		2203	4300	6503	-	-	-	SO:0001583	missense	0			X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.681C>G	4.37:g.9784334C>G	ENSP00000306129:p.Ile227Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9S3|Q8NEQ8	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Dopa_1B_rcpt,prints_Dopamine_rcpt	p.I227M	ENST00000304374.2	37	c.681	CCDS3405.1	4	.	.	.	.	.	.	.	.	.	.	c	15.13	2.743088	0.49151	.	.	ENSG00000169676	ENST00000304374	T	0.73789	-0.78	4.6	4.6	0.57074	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.86838	0.6029	M	0.89534	3.04	0.47737	D	0.999502	D	0.89917	1.0	D	0.79108	0.992	D	0.88485	0.3071	10	0.87932	D	0	.	9.9931	0.41883	0.0:0.8976:0.0:0.1024	.	227	P21918	DRD5_HUMAN	M	227	ENSP00000306129:I227M	ENSP00000306129:I227M	I	+	3	3	DRD5	9393432	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	2.150000	0.42254	2.387000	0.81309	0.305000	0.20034	ATC	DRD5	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000169676		0.567	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DRD5	HGNC	protein_coding	OTTHUMT00000250293.1	51	0.00	0	C			9784334	9784334	+1	no_errors	ENST00000304374	ensembl	human	known	69_37n	missense	54	14.29	9	SNP	1.000	G
DSCR3	10311	genome.wustl.edu	37	21	38610902	38610902	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr21:38610902C>G	ENST00000309117.6	-	3	447	c.210G>C	c.(208-210)caG>caC	p.Q70H	DSCR3_ENST00000399001.1_Intron|DSCR3_ENST00000398998.1_Missense_Mutation_p.Q22H|DSCR3_ENST00000539844.1_Intron|DSCR3_ENST00000476950.1_Missense_Mutation_p.Q70H|DSCR3_ENST00000399000.3_5'UTR|DSCR3_ENST00000288304.5_Missense_Mutation_p.Q28H|AP001432.14_ENST00000440629.1_lincRNA	NM_006052.1	NP_006043.1	O14972	DSCR3_HUMAN	Down syndrome critical region gene 3	70						nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						TGTTGATAATCTGGATAGGCT	0.433																																						dbGAP											0													93.0	96.0	95.0					21																	38610902		2203	4300	6503	-	-	-	SO:0001583	missense	0			D87343	CCDS33553.1	21q22.2	2008-05-22			ENSG00000157538	ENSG00000157538			3044	protein-coding gene	gene with protein product		605298				9399594	Standard	NM_006052		Approved	DCRA	uc002ywf.1	O14972	OTTHUMG00000086659	ENST00000309117.6:c.210G>C	21.37:g.38610902C>G	ENSP00000311399:p.Gln70His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6T8|B7Z6B1|D3DSH4|Q2TAY6	Missense_Mutation	SNP	pfam_VPS26,pfam_Arrestin-like_N,superfamily_Ig_E-set	p.Q70H	ENST00000309117.6	37	c.210	CCDS33553.1	21	.	.	.	.	.	.	.	.	.	.	C	18.64	3.668093	0.67814	.	.	ENSG00000157538	ENST00000309117;ENST00000288304;ENST00000476950;ENST00000398998	T	0.06371	3.31	5.41	3.21	0.36854	.	0.000000	0.85682	D	0.000000	T	0.23330	0.0564	M	0.86573	2.825	0.58432	D	0.999998	P;P	0.48834	0.854;0.916	P;P	0.59115	0.811;0.852	T	0.02837	-1.1104	10	0.66056	D	0.02	-5.0605	11.3672	0.49679	0.0:0.7642:0.0:0.2358	.	70;70	B7Z6B1;O14972	.;DSCR3_HUMAN	H	70;28;70;22	ENSP00000311399:Q70H	ENSP00000288304:Q28H	Q	-	3	2	DSCR3	37532772	0.998000	0.40836	1.000000	0.80357	0.978000	0.69477	0.554000	0.23407	1.413000	0.46997	0.655000	0.94253	CAG	DSCR3	-	pfam_VPS26,pfam_Arrestin-like_N,superfamily_Ig_E-set	ENSG00000157538		0.433	DSCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCR3	HGNC	protein_coding	OTTHUMT00000194807.1	59	0.00	0	C			38610902	38610902	-1	no_errors	ENST00000309117	ensembl	human	known	69_37n	missense	31	52.31	34	SNP	1.000	G
DSE	29940	genome.wustl.edu	37	6	116720662	116720662	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:116720662G>C	ENST00000331677.3	+	3	693	c.249G>C	c.(247-249)ttG>ttC	p.L83F	DSE_ENST00000452085.3_Missense_Mutation_p.L83F|DSE_ENST00000537543.1_Missense_Mutation_p.L102F|DSE_ENST00000540275.1_3'UTR|DSE_ENST00000359564.2_Missense_Mutation_p.L83F			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	83					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		CCAGCCCCTTGGAATACCTCC	0.587																																						dbGAP											0													41.0	40.0	40.0					6																	116720662		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"""squamous cell carcinoma antigen recognized by T cells 2"""	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.249G>C	6.37:g.116720662G>C	ENSP00000332151:p.Leu83Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5R3K6	Missense_Mutation	SNP	superfamily_Chondroitin_lyas	p.L102F	ENST00000331677.3	37	c.306	CCDS5107.1	6	.	.	.	.	.	.	.	.	.	.	G	16.41	3.116289	0.56505	.	.	ENSG00000111817	ENST00000430252;ENST00000452085;ENST00000537543;ENST00000331677;ENST00000359564	T;T;T;T;T	0.44482	1.77;0.92;0.92;0.92;0.92	5.46	5.46	0.80206	.	0.224065	0.38778	N	0.001575	T	0.19644	0.0472	N	0.22421	0.69	0.46416	D	0.999038	P;P	0.49447	0.924;0.924	P;B	0.44990	0.466;0.367	T	0.01771	-1.1277	10	0.15499	T	0.54	-16.7312	14.3604	0.66768	0.0:0.0:0.8522:0.1477	.	102;83	B7Z765;Q9UL01	.;DSE_HUMAN	F	83;83;102;83;83	ENSP00000397597:L83F;ENSP00000404049:L83F;ENSP00000441152:L102F;ENSP00000332151:L83F;ENSP00000352567:L83F	ENSP00000332151:L83F	L	+	3	2	DSE	116827355	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	4.244000	0.58728	2.840000	0.97914	0.655000	0.94253	TTG	DSE	-	superfamily_Chondroitin_lyas	ENSG00000111817		0.587	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DSE	HGNC	protein_coding	OTTHUMT00000041940.2	28	0.00	0	G	NM_013352		116720662	116720662	+1	no_errors	ENST00000537543	ensembl	human	known	69_37n	missense	27	20.59	7	SNP	1.000	C
DST	667	genome.wustl.edu	37	6	56433282	56433282	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:56433282C>T	ENST00000361203.3	-	51	13364	c.13357G>A	c.(13357-13359)Gca>Aca	p.A4453T	DST_ENST00000421834.2_Missense_Mutation_p.A2367T|DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Missense_Mutation_p.A2041T|DST_ENST00000370754.5_Missense_Mutation_p.A4633T|DST_ENST00000446842.2_Missense_Mutation_p.A4129T|DST_ENST00000370788.2_Missense_Mutation_p.A2367T|DST_ENST00000370769.4_Missense_Mutation_p.A4455T			Q03001	DYST_HUMAN	dystonin	4453					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.A4455T(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTAACTGCTGCTATTGCCTTT	0.328																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											147.0	138.0	141.0					6																	56433282		1844	4095	5939	-	-	-	SO:0001583	missense	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.13357G>A	6.37:g.56433282C>T	ENSP00000354508:p.Ala4453Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.A4633T	ENST00000361203.3	37	c.13897		6	.	.	.	.	.	.	.	.	.	.	C	16.28	3.078025	0.55753	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.63417	1.19;-0.01;-0.01;0.15;0.94;0.11;-0.04	6.1	4.32	0.51571	.	0.251114	0.27778	N	0.017894	T	0.39835	0.1093	L	0.40543	1.245	0.26664	N	0.971869	P;P;B;B;B	0.47106	0.89;0.745;0.003;0.0;0.23	P;B;B;B;B	0.45232	0.474;0.298;0.012;0.002;0.133	T	0.27938	-1.0059	9	0.20046	T	0.44	.	12.2071	0.54358	0.0:0.8644:0.0:0.1356	.	2367;4455;4633;4453;2041	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	T	2041;4633;4455;2367;4129;2367;4453	ENSP00000244364:A2041T;ENSP00000359790:A4633T;ENSP00000359805:A4455T;ENSP00000400883:A2367T;ENSP00000393645:A4129T;ENSP00000359824:A2367T;ENSP00000354508:A4453T	ENSP00000244364:A2041T	A	-	1	0	DST	56541241	0.998000	0.40836	0.802000	0.32245	0.996000	0.88848	1.796000	0.38794	1.596000	0.50062	0.650000	0.86243	GCA	DST	-	superfamily_ABC_transptrTM_dom_typ1	ENSG00000151914		0.328	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	177	0.00	0	C	NM_001723		56433282	56433282	-1	no_errors	ENST00000370754	ensembl	human	known	69_37n	missense	128	23.35	39	SNP	0.473	T
DST	667	genome.wustl.edu	37	6	56443702	56443702	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:56443702C>G	ENST00000361203.3	-	46	12311	c.12304G>C	c.(12304-12306)Gct>Cct	p.A4102P	DST_ENST00000421834.2_Missense_Mutation_p.A2016P|DST_ENST00000312431.6_Missense_Mutation_p.A4102P|DST_ENST00000244364.6_Missense_Mutation_p.A1690P|DST_ENST00000370754.5_Missense_Mutation_p.A4282P|DST_ENST00000446842.2_Missense_Mutation_p.A3778P|DST_ENST00000370788.2_Missense_Mutation_p.A2016P|DST_ENST00000370769.4_Missense_Mutation_p.A4104P			Q03001	DYST_HUMAN	dystonin	4102					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTCTCTACAGCAACCTGCTGA	0.378																																						dbGAP											0													72.0	73.0	72.0					6																	56443702		1834	4083	5917	-	-	-	SO:0001583	missense	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.12304G>C	6.37:g.56443702C>G	ENSP00000354508:p.Ala4102Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.A4282P	ENST00000361203.3	37	c.12844		6	.	.	.	.	.	.	.	.	.	.	C	17.85	3.490059	0.64074	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71	5.46	4.6	0.57074	.	0.138323	0.32459	N	0.006067	T	0.39963	0.1098	N	0.19112	0.55	0.28416	N	0.917956	D;D;D;P;D	0.89917	0.996;1.0;1.0;0.928;0.985	D;D;D;P;P	0.87578	0.914;0.998;0.997;0.73;0.863	T	0.40887	-0.9539	9	0.30854	T	0.27	.	13.966	0.64209	0.0:0.9273:0.0:0.0727	.	2016;4104;4282;4102;1690	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	P	1690;4282;4104;2016;3778;4102;2016;4102	ENSP00000244364:A1690P;ENSP00000359790:A4282P;ENSP00000359805:A4104P;ENSP00000400883:A2016P;ENSP00000393645:A3778P;ENSP00000307959:A4102P;ENSP00000359824:A2016P;ENSP00000354508:A4102P	ENSP00000244364:A1690P	A	-	1	0	DST	56551661	1.000000	0.71417	0.983000	0.44433	0.990000	0.78478	2.512000	0.45485	1.304000	0.44892	0.655000	0.94253	GCT	DST	-	pfam_Spectrin_repeat,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin	ENSG00000151914		0.378	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	130	0.00	0	C	NM_001723		56443702	56443702	-1	no_errors	ENST00000370754	ensembl	human	known	69_37n	missense	78	14.29	13	SNP	1.000	G
DST	667	genome.wustl.edu	37	6	56468733	56468733	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:56468733C>G	ENST00000361203.3	-	36	10067	c.10060G>C	c.(10060-10062)Gat>Cat	p.D3354H	DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.D3354H|DST_ENST00000244364.6_Intron|DST_ENST00000370754.5_Missense_Mutation_p.D3532H|DST_ENST00000446842.2_Missense_Mutation_p.D3028H|DST_ENST00000370788.2_Intron|DST_ENST00000370769.4_Missense_Mutation_p.D3354H			Q03001	DYST_HUMAN	dystonin	3354					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AGCTTCTCATCTCTTGGCAAT	0.388																																						dbGAP											0													77.0	70.0	72.0					6																	56468733		1861	4112	5973	-	-	-	SO:0001583	missense	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.10060G>C	6.37:g.56468733C>G	ENSP00000354508:p.Asp3354His	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.D3532H	ENST00000361203.3	37	c.10594		6	.	.	.	.	.	.	.	.	.	.	C	12.23	1.876155	0.33162	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000446842;ENST00000312431;ENST00000361203;ENST00000439203	T;T;T;D;T;T	0.81659	-0.09;-0.09;0.86;-1.52;-0.08;-0.73	5.75	1.75	0.24633	.	0.773311	0.11192	N	0.589780	T	0.40956	0.1138	.	.	.	0.25168	N	0.990307	B	0.21147	0.052	B	0.20384	0.029	T	0.04294	-1.0962	8	0.11485	T	0.65	.	6.6231	0.22814	0.0:0.5801:0.196:0.2238	.	3028	Q03001-9	.	H	3532;3354;3028;3354;3354;3028	ENSP00000359790:D3532H;ENSP00000359805:D3354H;ENSP00000393645:D3028H;ENSP00000307959:D3354H;ENSP00000354508:D3354H;ENSP00000404924:D3028H	ENSP00000307959:D3354H	D	-	1	0	DST	56576692	0.000000	0.05858	0.004000	0.12327	0.082000	0.17680	-0.153000	0.10144	0.790000	0.33803	-0.140000	0.14226	GAT	DST	-	superfamily_ABC_transptrTM_dom_typ1	ENSG00000151914		0.388	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	112	0.00	0	C	NM_001723		56468733	56468733	-1	no_errors	ENST00000370754	ensembl	human	known	69_37n	missense	59	21.33	16	SNP	0.000	G
DST	667	genome.wustl.edu	37	6	56471129	56471129	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:56471129C>G	ENST00000361203.3	-	36	7671	c.7664G>C	c.(7663-7665)aGa>aCa	p.R2555T	DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.R2555T|DST_ENST00000244364.6_Intron|DST_ENST00000370754.5_Missense_Mutation_p.R2733T|DST_ENST00000446842.2_Missense_Mutation_p.R2229T|DST_ENST00000370788.2_Intron|DST_ENST00000370769.4_Missense_Mutation_p.R2555T			Q03001	DYST_HUMAN	dystonin	2555					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTTTCTTCCTCTCCAACTGCC	0.363																																						dbGAP											0													55.0	49.0	51.0					6																	56471129		1894	4120	6014	-	-	-	SO:0001583	missense	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.7664G>C	6.37:g.56471129C>G	ENSP00000354508:p.Arg2555Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.R2733T	ENST00000361203.3	37	c.8198		6	.	.	.	.	.	.	.	.	.	.	C	4.480	0.089047	0.08583	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000446842;ENST00000312431;ENST00000361203;ENST00000439203	T;T;T;T;T;T	0.81415	-0.0;-0.01;0.94;-1.49;-0.01;-0.29	4.4	1.42	0.22433	.	0.938409	0.08893	N	0.878408	T	0.45236	0.1332	.	.	.	0.29205	N	0.8749629999999999	B	0.29037	0.231	B	0.26969	0.075	T	0.14420	-1.0473	8	0.31617	T	0.26	.	3.1915	0.06619	0.1863:0.5089:0.0:0.3048	.	2229	Q03001-9	.	T	2733;2555;2229;2555;2555;2229	ENSP00000359790:R2733T;ENSP00000359805:R2555T;ENSP00000393645:R2229T;ENSP00000307959:R2555T;ENSP00000354508:R2555T;ENSP00000404924:R2229T	ENSP00000307959:R2555T	R	-	2	0	DST	56579088	0.014000	0.17966	0.974000	0.42286	0.123000	0.20343	0.488000	0.22371	0.606000	0.29965	-0.391000	0.06502	AGA	DST	-	superfamily_ABC_transptrTM_dom_typ1	ENSG00000151914		0.363	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	87	0.00	0	C	NM_001723		56471129	56471129	-1	no_errors	ENST00000370754	ensembl	human	known	69_37n	missense	74	15.91	14	SNP	0.855	G
DST	667	genome.wustl.edu	37	6	56472845	56472845	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:56472845G>C	ENST00000361203.3	-	36	5955	c.5948C>G	c.(5947-5949)tCa>tGa	p.S1983*	DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Nonsense_Mutation_p.S1983*|DST_ENST00000244364.6_Intron|DST_ENST00000370754.5_Nonsense_Mutation_p.S2161*|DST_ENST00000446842.2_Nonsense_Mutation_p.S1657*|DST_ENST00000370788.2_Intron|DST_ENST00000370769.4_Nonsense_Mutation_p.S1983*			Q03001	DYST_HUMAN	dystonin	1983					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AGTTTCTTCTGAGGTCTGAGT	0.363																																						dbGAP											0													52.0	52.0	52.0					6																	56472845		1821	4079	5900	-	-	-	SO:0001587	stop_gained	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.5948C>G	6.37:g.56472845G>C	ENSP00000354508:p.Ser1983*	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Nonsense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.S2161*	ENST00000361203.3	37	c.6482		6	.	.	.	.	.	.	.	.	.	.	G	40	8.327280	0.98762	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000446842;ENST00000312431;ENST00000361203;ENST00000439203	.	.	.	5.55	3.52	0.40303	.	0.351936	0.20751	N	0.086341	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	9.3608	0.38195	0.2659:0.0:0.7341:0.0	.	.	.	.	X	2161;1983;1657;1983;1983;1657	.	ENSP00000307959:S1983X	S	-	2	0	DST	56580804	0.997000	0.39634	1.000000	0.80357	0.840000	0.47671	1.625000	0.37029	1.348000	0.45733	0.563000	0.77884	TCA	DST	-	superfamily_ABC_transptrTM_dom_typ1	ENSG00000151914		0.363	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	66	0.00	0	G	NM_001723		56472845	56472845	-1	no_errors	ENST00000370754	ensembl	human	known	69_37n	nonsense	48	23.81	15	SNP	0.792	C
DST	667	genome.wustl.edu	37	6	56489957	56489957	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:56489957C>G	ENST00000361203.3	-	31	4202	c.4195G>C	c.(4195-4197)Gag>Cag	p.E1399Q	DST_ENST00000370765.6_Missense_Mutation_p.E1073Q|DST_ENST00000421834.2_Missense_Mutation_p.E1399Q|DST_ENST00000518935.1_Missense_Mutation_p.E1073Q|DST_ENST00000312431.6_Missense_Mutation_p.E1399Q|DST_ENST00000244364.6_Missense_Mutation_p.E1073Q|DST_ENST00000370754.5_Missense_Mutation_p.E1577Q|DST_ENST00000446842.2_Missense_Mutation_p.E1073Q|DST_ENST00000370788.2_Missense_Mutation_p.E1399Q|DST_ENST00000370769.4_Missense_Mutation_p.E1399Q			Q03001	DYST_HUMAN	dystonin	1399					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTTATTACCTCTTGAATAATG	0.343																																						dbGAP											0													116.0	119.0	118.0					6																	56489957		2203	4300	6503	-	-	-	SO:0001583	missense	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.4195G>C	6.37:g.56489957C>G	ENSP00000354508:p.Glu1399Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.E1577Q	ENST00000361203.3	37	c.4729		6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.2|28.2	4.901536|4.901536	0.92035|0.92035	.|.	.|.	ENSG00000151914|ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935|ENST00000522360	T;T;T;T;T;T;T;T;T;T;T;T|.	0.80994|.	1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.36;-1.44;1.36;-1.44|.	4.99|4.99	4.99|4.99	0.66335|0.66335	.|.	0.000000|.	0.49305|.	D|.	0.000146|.	T|T	0.68577|0.68577	0.3016|0.3016	M|M	0.67953|0.67953	2.075|2.075	0.28772|.	N|.	0.90033|.	D;D;D;D;D;D;D;D|.	0.89917|.	0.998;0.999;0.985;0.974;0.976;1.0;0.998;1.0|.	D;D;P;P;P;D;D;D|.	0.91635|.	0.991;0.937;0.715;0.78;0.892;0.999;0.991;0.994|.	T|T	0.67554|0.67554	-0.5641|-0.5641	9|4	0.56958|.	D|.	0.05|.	.|.	18.6532|18.6532	0.91439|0.91439	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1399;1399;1577;1073;1073;1073;1399;1073|.	Q5TBT1;E7ERU2;E9PEB9;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8|.	.;.;.;.;.;.;DYST_HUMAN;.|.	Q|N	1073;1577;1399;1399;1073;1399;1399;1399;1073;1439;1073;1073|70	ENSP00000244364:E1073Q;ENSP00000359790:E1577Q;ENSP00000359805:E1399Q;ENSP00000400883:E1399Q;ENSP00000393645:E1073Q;ENSP00000307959:E1399Q;ENSP00000359824:E1399Q;ENSP00000354508:E1399Q;ENSP00000404924:E1073Q;ENSP00000431030:E1439Q;ENSP00000359801:E1073Q;ENSP00000431003:E1073Q|.	ENSP00000244364:E1073Q|.	E|K	-|-	1|3	0|2	DST|DST	56597916|56597916	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	5.959000|5.959000	0.70339|0.70339	2.481000|2.481000	0.83766|0.83766	0.563000|0.563000	0.77884|0.77884	GAG|AAG	DST	-	superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin	ENSG00000151914		0.343	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	145	0.00	0	C	NM_001723		56489957	56489957	-1	no_errors	ENST00000370754	ensembl	human	known	69_37n	missense	98	27.94	38	SNP	1.000	G
DSE	29940	genome.wustl.edu	37	6	116752196	116752196	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:116752196G>A	ENST00000331677.3	+	5	1194	c.750G>A	c.(748-750)gtG>gtA	p.V250V	DSE_ENST00000452085.3_Silent_p.V250V|DSE_ENST00000537543.1_Silent_p.V269V|DSE_ENST00000359564.2_Silent_p.V250V			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	250					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		TCAGGGAGGTGACGGATGGCT	0.468																																						dbGAP											0													174.0	140.0	152.0					6																	116752196		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"""squamous cell carcinoma antigen recognized by T cells 2"""	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.750G>A	6.37:g.116752196G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5R3K6	Silent	SNP	superfamily_Chondroitin_lyas	p.V269	ENST00000331677.3	37	c.807	CCDS5107.1	6																																																																																			DSE	-	superfamily_Chondroitin_lyas	ENSG00000111817		0.468	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DSE	HGNC	protein_coding	OTTHUMT00000041940.2	120	0.00	0	G	NM_013352		116752196	116752196	+1	no_errors	ENST00000537543	ensembl	human	known	69_37n	silent	70	30.69	31	SNP	1.000	A
DTHD1	401124	genome.wustl.edu	37	4	36285663	36285663	+	5'UTR	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:36285663C>T	ENST00000456874.2	+	0	20				DTHD1_ENST00000507598.1_Silent_p.L28L|DTHD1_ENST00000357504.3_Intron	NM_001170700.2	NP_001164171.1	Q6ZMT9	DTHD1_HUMAN	death domain containing 1						signal transduction (GO:0007165)					breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|stomach(1)	8						TGCTGCACTTCTAAAGAAAGA	0.378																																						dbGAP											0													10.0	8.0	9.0					4																	36285663		691	1584	2275	-	-	-	SO:0001623	5_prime_UTR_variant	0			AK094684	CCDS54754.1	4p14	2009-10-02			ENSG00000197057	ENSG00000197057			37261	protein-coding gene	gene with protein product							Standard	NM_001170700		Approved	FLJ16686	uc021xne.2	Q6ZMT9	OTTHUMG00000160371	ENST00000456874.2:c.-39C>T	4.37:g.36285663C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RXK4|B4E2N7	Silent	SNP	pfam_Death,superfamily_DEATH-like,pfscan_Death	p.L28	ENST00000456874.2	37	c.82	CCDS54754.1	4																																																																																			DTHD1	-	NULL	ENSG00000197057		0.378	DTHD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	DTHD1	HGNC	protein_coding		17	0.00	0	C	NM_001136536		36285663	36285663	+1	no_errors	ENST00000507598	ensembl	human	novel	69_37n	silent	10	37.50	6	SNP	0.999	T
DTNA	1837	genome.wustl.edu	37	18	32345992	32345992	+	Missense_Mutation	SNP	G	G	C	rs1071632		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr18:32345992G>C	ENST00000399113.3	+	2	135	c.135G>C	c.(133-135)caG>caC	p.Q45H	DTNA_ENST00000269191.6_Missense_Mutation_p.Q45H|DTNA_ENST00000598142.1_Missense_Mutation_p.Q45H|DTNA_ENST00000596745.1_Missense_Mutation_p.Q45H|DTNA_ENST00000269190.7_Missense_Mutation_p.Q45H|DTNA_ENST00000598774.1_Missense_Mutation_p.Q45H|DTNA_ENST00000595022.1_Missense_Mutation_p.Q45H|DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000554864.3_Missense_Mutation_p.Q45H|RP11-138H11.1_ENST00000596954.1_RNA|DTNA_ENST00000348997.5_Missense_Mutation_p.Q45H|DTNA_ENST00000399121.5_Missense_Mutation_p.Q45H|DTNA_ENST00000597599.1_Missense_Mutation_p.Q45H|DTNA_ENST00000444659.1_Missense_Mutation_p.Q45H|DTNA_ENST00000598334.1_Missense_Mutation_p.Q45H|DTNA_ENST00000315456.6_Missense_Mutation_p.Q45H|DTNA_ENST00000283365.9_Missense_Mutation_p.Q45H			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	45	Interaction with MAGEE1. {ECO:0000250}.			Q -> H (in Ref. 2; AAB58541/AAB58542/ AAB58543). {ECO:0000305}.	neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						GGTTTGTTCAGAAGAAATGCA	0.398																																						dbGAP											0													110.0	92.0	98.0					18																	32345992		2203	4300	6503	-	-	-	SO:0001583	missense	0			U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"""dystrophin-related protein 3"""	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.135G>C	18.37:g.32345992G>C	ENSP00000382064:p.Gln45His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Missense_Mutation	SNP	pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Distrobrevin,pfscan_Znf_ZZ	p.Q45H	ENST00000399113.3	37	c.135	CCDS59311.1	18	.	.	.	.	.	.	.	.	.	.	G	22.6	4.308001	0.81247	.	.	ENSG00000134769	ENST00000399119;ENST00000283365;ENST00000315456;ENST00000556176;ENST00000399114;ENST00000269190;ENST00000348997;ENST00000399121;ENST00000444659;ENST00000269191;ENST00000399113	T;T;T;T;T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81;-0.81;-0.81;-0.81;-0.81	5.28	5.28	0.74379	EF-hand domain, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.87398	0.6167	M	0.84846	2.72	0.80722	D	1	D;P;D;D;D;D;D;D;D;D;D;D	0.89917	0.973;0.868;0.998;1.0;1.0;0.998;0.995;1.0;1.0;1.0;0.988;1.0	D;P;D;D;D;D;D;D;D;D;D;D	0.97110	0.986;0.858;0.996;1.0;0.999;0.996;0.989;1.0;0.999;0.999;0.977;0.998	D	0.89192	0.3551	10	0.72032	D	0.01	-14.7183	15.8241	0.78683	0.0:0.0:1.0:0.0	rs1071632	45;45;45;45;45;45;45;56;45;45;45;45	B4DGS6;Q9Y4J8;Q9Y4J8-3;A8K541;F5H5C1;Q9Y4J8-4;E9PEH8;Q59GK7;Q9BS59;Q9Y4J8-2;Q9Y4J8-5;Q9Y4J8-7	.;DTNA_HUMAN;.;.;.;.;.;.;.;.;.;.	H	45	ENSP00000283365:Q45H;ENSP00000322519:Q45H;ENSP00000269190:Q45H;ENSP00000336682:Q45H;ENSP00000382072:Q45H;ENSP00000405819:Q45H;ENSP00000269191:Q45H;ENSP00000382064:Q45H	ENSP00000269190:Q45H	Q	+	3	2	DTNA	30599990	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.870000	0.56070	2.470000	0.83445	0.557000	0.71058	CAG	DTNA	-	pfam_EF-hand_dom_typ1,pirsf_Distrobrevin	ENSG00000134769		0.398	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	DTNA	HGNC	protein_coding	OTTHUMT00000255422.2	86	0.00	0	G	NM_001390		32345992	32345992	+1	no_errors	ENST00000269190	ensembl	human	known	69_37n	missense	53	26.39	19	SNP	1.000	C
DTX3L	151636	genome.wustl.edu	37	3	122288191	122288191	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:122288191C>T	ENST00000296161.4	+	3	1444	c.1255C>T	c.(1255-1257)Ctg>Ttg	p.L419L	DTX3L_ENST00000383661.3_Intron	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3 like, E3 ubiquitin ligase	419					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone monoubiquitination (GO:0010390)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		AACCTGCATTCTGTTTGAATC	0.393																																						dbGAP											0													84.0	82.0	83.0					3																	122288191		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS3015.1	3q21.1	2014-01-28	2014-01-28		ENSG00000163840	ENSG00000163840		"""RING-type (C3HC4) zinc fingers"""	30323	protein-coding gene	gene with protein product	"""rhysin 2"""	613143	"""deltex 3-like (Drosophila)"""			12670957, 22411408	Standard	NM_138287		Approved	BBAP	uc003efk.3	Q8TDB6	OTTHUMG00000159524	ENST00000296161.4:c.1255C>T	3.37:g.122288191C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWH6|Q53ZZ3|Q5MJP7	Silent	SNP	smart_Znf_RING,pfscan_Znf_RING	p.L419	ENST00000296161.4	37	c.1255	CCDS3015.1	3																																																																																			DTX3L	-	NULL	ENSG00000163840		0.393	DTX3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTX3L	HGNC	protein_coding	OTTHUMT00000355966.1	26	0.00	0	C	NM_138287		122288191	122288191	+1	no_errors	ENST00000296161	ensembl	human	known	69_37n	silent	45	23.73	14	SNP	0.003	T
DUOX1	53905	genome.wustl.edu	37	15	45444575	45444575	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:45444575C>G	ENST00000321429.4	+	26	3692	c.3285C>G	c.(3283-3285)ttC>ttG	p.F1095L	DUOX1_ENST00000389037.3_Missense_Mutation_p.F1095L|DUOX1_ENST00000561166.1_Missense_Mutation_p.F741L|CTD-2651B20.1_ENST00000558039.1_lincRNA	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1095	Ferric oxidoreductase.|Interaction with TXNDC11. {ECO:0000250}.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		GCATCTCTTTCATGTTCTCCT	0.592																																						dbGAP											0													215.0	158.0	177.0					15																	45444575		2198	4298	6496	-	-	-	SO:0001583	missense	0			AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.3285C>G	15.37:g.45444575C>G	ENSP00000317997:p.Phe1095Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF-hand,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_Ca-bd,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_HAND_2,pfscan_Haem_peroxidase_animal	p.F1095L	ENST00000321429.4	37	c.3285	CCDS32221.1	15	.	.	.	.	.	.	.	.	.	.	C	20.9	4.065166	0.76187	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.88586	-2.4;-2.4	4.07	1.04	0.20106	Flavoprotein transmembrane component (1);	0.045370	0.85682	N	0.000000	D	0.90010	0.6881	L	0.49513	1.565	0.80722	D	1	D;D	0.89917	1.0;0.986	D;P	0.85130	0.997;0.88	D	0.85431	0.1149	10	0.34782	T	0.22	-17.4493	6.7177	0.23312	0.0:0.5882:0.0:0.4118	.	228;1095	Q9NT13;Q9NRD9	.;DUOX1_HUMAN	L	1095	ENSP00000317997:F1095L;ENSP00000373689:F1095L	ENSP00000317997:F1095L	F	+	3	2	DUOX1	43231867	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.193000	0.32162	0.110000	0.17919	-0.145000	0.13849	TTC	DUOX1	-	pfam_Fe3_Rdtase_TM_dom	ENSG00000137857		0.592	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DUOX1	HGNC	protein_coding	OTTHUMT00000416251.1	115	0.00	0	C	NM_017434		45444575	45444575	+1	no_errors	ENST00000321429	ensembl	human	known	69_37n	missense	98	15.52	18	SNP	1.000	G
DUPD1	338599	genome.wustl.edu	37	10	76803733	76803733	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:76803733G>A	ENST00000338487.5	-	2	242	c.243C>T	c.(241-243)ttC>ttT	p.F81F		NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase domain containing 1	81	Tyrosine-protein phosphatase.				protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					GCACGTGCGTGAACCCCGCCT	0.701																																						dbGAP											0													46.0	49.0	48.0					10																	76803733		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0				CCDS31223.1	10q22.3	2011-06-09			ENSG00000188716	ENSG00000188716		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	23481	protein-coding gene	gene with protein product							Standard	NM_001003892		Approved	DUSP27	uc001jwq.1	Q68J44	OTTHUMG00000018512	ENST00000338487.5:c.243C>T	10.37:g.76803733G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP93	Silent	SNP	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP_famA,prints_Atypical_DUSP,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.F81	ENST00000338487.5	37	c.243	CCDS31223.1	10																																																																																			DUPD1	-	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP_famA,prints_Atypical_DUSP,pfscan_Dual-sp_phosphatase_subgr_cat	ENSG00000188716		0.701	DUPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUPD1	HGNC	protein_coding	OTTHUMT00000048777.2	33	0.00	0	G	XM_291741		76803733	76803733	-1	no_errors	ENST00000338487	ensembl	human	known	69_37n	silent	15	31.82	7	SNP	1.000	A
DUS2	54920	genome.wustl.edu	37	16	68071937	68071937	+	Missense_Mutation	SNP	A	A	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:68071937A>C	ENST00000565263.1	+	3	505	c.11A>C	c.(10-12)aAt>aCt	p.N4T	DUS2_ENST00000432752.1_Missense_Mutation_p.N4T|DUS2_ENST00000358896.6_Missense_Mutation_p.N4T	NM_017803.3	NP_060273.1	Q9NX74	DUS2L_HUMAN	dihydrouridine synthase 2	4					negative regulation of cell death (GO:0060548)|negative regulation of protein kinase activity (GO:0006469)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	double-stranded RNA binding (GO:0003725)|flavin adenine dinucleotide binding (GO:0050660)|protein kinase inhibitor activity (GO:0004860)|tRNA dihydrouridine synthase activity (GO:0017150)										ATGATTTTGAATAGCCTCTCT	0.443																																						dbGAP											0													129.0	120.0	123.0					16																	68071937		2198	4300	6498	-	-	-	SO:0001583	missense	0				CCDS10859.1, CCDS61970.1	16q22.1	2013-07-23	2013-07-23	2013-07-23	ENSG00000167264	ENSG00000167264			26014	protein-coding gene	gene with protein product	"""SMM1 homolog (S. cerevisiae)"""	609707	"""dihydrouridine synthase 2-like (SMM1, S. cerevisiae)"", ""dihydrouridine synthase 2-like, SMM1 homolog (S. cerevisiae)"", ""dihydrouridine synthase 2-like"""	DUS2L		15994936, 22741570	Standard	NM_017803		Approved	FLJ20399, SMM1	uc002evj.4	Q9NX74	OTTHUMG00000137538	ENST00000565263.1:c.11A>C	16.37:g.68071937A>C	ENSP00000455229:p.Asn4Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3G3|Q4H4D9	Missense_Mutation	SNP	pfam_tRNA_hU_synthase,pfam_Ds-RNA-bd,smart_Ds-RNA-bd	p.N4T	ENST00000565263.1	37	c.11	CCDS10859.1	16	.	.	.	.	.	.	.	.	.	.	A	12.21	1.868654	0.32977	.	.	ENSG00000167264	ENST00000358896;ENST00000432752	T;T	0.32023	1.47;1.53	5.08	5.08	0.68730	.	0.197274	0.44902	D	0.000404	T	0.16811	0.0404	N	0.08118	0	0.34713	D	0.72792	B;B	0.06786	0.0;0.001	B;B	0.06405	0.002;0.001	T	0.15896	-1.0421	10	0.28530	T	0.3	-17.8406	13.0793	0.59104	1.0:0.0:0.0:0.0	.	4;4	E7EUN9;Q9NX74	.;DUS2L_HUMAN	T	4	ENSP00000351769:N4T;ENSP00000409498:N4T	ENSP00000351769:N4T	N	+	2	0	DUS2L	66629438	1.000000	0.71417	0.969000	0.41365	0.978000	0.69477	4.300000	0.59079	1.918000	0.55548	0.477000	0.44152	AAT	DUS2L	-	NULL	ENSG00000167264		0.443	DUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUS2L	HGNC	protein_coding	OTTHUMT00000268869.2	156	0.00	0	A	NM_017803		68071937	68071937	+1	no_errors	ENST00000358896	ensembl	human	known	69_37n	missense	158	16.58	32	SNP	1.000	C
DUSP18	150290	genome.wustl.edu	37	22	31059454	31059454	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:31059454C>G	ENST00000334679.3	-	2	1042	c.537G>C	c.(535-537)gaG>gaC	p.E179D	DUSP18_ENST00000403268.1_3'UTR|DUSP18_ENST00000404885.1_Missense_Mutation_p.E179D|DUSP18_ENST00000407308.1_Missense_Mutation_p.E179D|DUSP18_ENST00000461301.1_Intron	NM_152511.3	NP_689724.3	Q8NEJ0	DUS18_HUMAN	dual specificity phosphatase 18	179					peptidyl-tyrosine dephosphorylation (GO:0035335)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			large_intestine(1)|lung(1)|prostate(1)|skin(1)	4						GGACTTCCTTCTCATAGATGT	0.478																																						dbGAP											0													100.0	97.0	98.0					22																	31059454		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF461689	CCDS13883.1	22q12.1	2011-06-09				ENSG00000167065		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	18484	protein-coding gene	gene with protein product		611446				12408986	Standard	NM_152511		Approved	DUSP20	uc003aiw.1	Q8NEJ0		ENST00000334679.3:c.537G>C	22.37:g.31059454C>G	ENSP00000333917:p.Glu179Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KPA4	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP_famB,prints_Atypical_DUSP	p.E179D	ENST00000334679.3	37	c.537	CCDS13883.1	22	.	.	.	.	.	.	.	.	.	.	C	15.19	2.760795	0.49468	.	.	ENSG00000167065	ENST00000404885;ENST00000407308;ENST00000334679	T;T;T	0.03607	3.87;3.87;3.87	5.11	3.0	0.34707	.	0.000000	0.85682	D	0.000000	T	0.08537	0.0212	M	0.87456	2.885	0.80722	D	1	B	0.27450	0.179	B	0.29176	0.099	T	0.01945	-1.1242	10	0.54805	T	0.06	.	9.8862	0.41264	0.0:0.769:0.0:0.231	.	179	Q8NEJ0	DUS18_HUMAN	D	179	ENSP00000385463:E179D;ENSP00000386063:E179D;ENSP00000333917:E179D	ENSP00000333917:E179D	E	-	3	2	DUSP18	29389454	0.902000	0.30710	1.000000	0.80357	0.992000	0.81027	0.150000	0.16263	0.551000	0.29008	0.655000	0.94253	GAG	DUSP18	-	NULL	ENSG00000167065		0.478	DUSP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP18	HGNC	protein_coding	OTTHUMT00000321400.1	61	0.00	0	C			31059454	31059454	-1	no_errors	ENST00000334679	ensembl	human	known	69_37n	missense	89	21.93	25	SNP	1.000	G
DUSP9	1852	genome.wustl.edu	37	X	152915644	152915644	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:152915644G>T	ENST00000342782.3	+	4	1304	c.1039G>T	c.(1039-1041)Gag>Tag	p.E347*	DUSP9_ENST00000370167.4_Nonsense_Mutation_p.E347*			Q99956	DUS9_HUMAN	dual specificity phosphatase 9	347	Tyrosine-protein phosphatase.				inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|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)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTTGCGGCTGGAGGAGCGCCA	0.612																																						dbGAP											0													126.0	112.0	117.0					X																	152915644		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			Y08302	CCDS14724.1	Xq28	2011-06-09			ENSG00000130829	ENSG00000130829		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3076	protein-coding gene	gene with protein product	"""map kinase phosphatase 4"""	300134				9030581, 9286695	Standard	NM_001395		Approved	MKP-4, MKP4	uc004fhx.4	Q99956	OTTHUMG00000024211	ENST00000342782.3:c.1039G>T	X.37:g.152915644G>T	ENSP00000345853:p.Glu347*	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DWU5	Nonsense_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,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP	p.E347*	ENST00000342782.3	37	c.1039	CCDS14724.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	18.50|18.50	3.636515|3.636515	0.67130|0.67130	.|.	.|.	ENSG00000130829|ENSG00000130829	ENST00000370167;ENST00000342782|ENST00000433144	.|.	.|.	.|.	4.29|4.29	0.0818|0.0818	0.14426|0.14426	.|.	1.626470|.	0.03205|.	N|.	0.175418|.	.|T	.|0.51381	.|0.1671	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.38394	.|-0.9663	.|4	0.25751|.	T|.	0.34|.	.|.	5.9599|5.9599	0.19293|0.19293	0.1604:0.5631:0.2766:0.0|0.1604:0.5631:0.2766:0.0	.|.	.|.	.|.	.|.	X|C	347|317	.|.	ENSP00000345853:E347X|.	E|W	+|+	1|3	0|0	DUSP9|DUSP9	152568838|152568838	1.000000|1.000000	0.71417|0.71417	0.008000|0.008000	0.14137|0.14137	0.243000|0.243000	0.25628|0.25628	1.619000|1.619000	0.36965|0.36965	0.026000|0.026000	0.15269|0.15269	0.529000|0.529000	0.55759|0.55759	GAG|TGG	DUSP9	-	pirsf_MKP	ENSG00000130829		0.612	DUSP9-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DUSP9	HGNC	protein_coding	OTTHUMT00000061022.3	62	0.00	0	G	NM_001395		152915644	152915644	+1	no_errors	ENST00000342782	ensembl	human	known	69_37n	nonsense	51	22.73	15	SNP	0.916	T
DYNC1H1	1778	genome.wustl.edu	37	14	102493882	102493883	+	Splice_Site	INS	-	-	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:102493882_102493883insT	ENST00000360184.4	+	46	9212		c.e46+1			NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CAATGGAGAGGTAATTAGGTGA	0.45																																						dbGAP											0																																										-	-	-	SO:0001630	splice_region_variant	0			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.9048+1->T	14.37:g.102493883_102493883dupT		Somatic		WXS	Illumina GAIIx	Phase_IV	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Splice_Site	INS	-	e46+1	ENST00000360184.4	37	c.9048+1_9048+1	CCDS9966.1	14																																																																																			DYNC1H1	-	-	ENSG00000197102		0.450	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1	68	0.00	0	-	NM_001376	Intron	102493882	102493883	+1	no_errors	ENST00000360184	ensembl	human	known	69_37n	splice_site_ins	39	37.10	23	INS	1.000:1.000	T
DYNC1LI1	51143	genome.wustl.edu	37	3	32570035	32570035	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:32570035C>G	ENST00000273130.4	-	12	1468	c.1365G>C	c.(1363-1365)aaG>aaC	p.K455N	DYNC1LI1_ENST00000432458.2_Missense_Mutation_p.K339N	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain 1	455					microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						GAGAGCCAGTCTTTTTACTCA	0.453																																						dbGAP											0													66.0	68.0	67.0					3																	32570035		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF078849	CCDS2654.1	3p23	2013-01-18	2005-11-25	2005-11-25	ENSG00000144635	ENSG00000144635		"""Cytoplasmic dyneins"""	18745	protein-coding gene	gene with protein product		615890	"""dynein, cytoplasmic, light intermediate polypeptide 1"""	DNCLI1		16260502	Standard	NM_016141		Approved		uc003cfb.4	Q9Y6G9	OTTHUMG00000130750	ENST00000273130.4:c.1365G>C	3.37:g.32570035C>G	ENSP00000273130:p.Lys455Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRG7|Q53HC8|Q53HK7	Missense_Mutation	SNP	pfam_Dynein_light_int_chain	p.K455N	ENST00000273130.4	37	c.1365	CCDS2654.1	3	.	.	.	.	.	.	.	.	.	.	C	18.21	3.574309	0.65878	.	.	ENSG00000144635	ENST00000273130;ENST00000432458	T;T	0.23147	1.92;1.92	5.76	2.6	0.31112	.	0.000000	0.85682	D	0.000000	T	0.48150	0.1484	M	0.75447	2.3	0.53688	D	0.999976	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.51188	-0.8737	10	0.87932	D	0	-12.8418	11.4841	0.50344	0.0:0.7154:0.0:0.2846	.	339;455	E9PHI6;Q9Y6G9	.;DC1L1_HUMAN	N	455;339	ENSP00000273130:K455N;ENSP00000407279:K339N	ENSP00000273130:K455N	K	-	3	2	DYNC1LI1	32545039	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.798000	0.38814	0.805000	0.34159	-0.196000	0.12772	AAG	DYNC1LI1	-	pfam_Dynein_light_int_chain	ENSG00000144635		0.453	DYNC1LI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1LI1	HGNC	protein_coding	OTTHUMT00000253250.1	79	0.00	0	C	NM_016141		32570035	32570035	-1	no_errors	ENST00000273130	ensembl	human	known	69_37n	missense	56	44.00	44	SNP	1.000	G
DYNC1LI1	51143	genome.wustl.edu	37	3	32576114	32576114	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:32576114G>A	ENST00000273130.4	-	7	960	c.857C>T	c.(856-858)tCa>tTa	p.S286L	DYNC1LI1_ENST00000432458.2_Missense_Mutation_p.S170L	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain 1	286					microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						TTCTTTTACTGAAGTGTAAAT	0.303																																						dbGAP											0													60.0	66.0	64.0					3																	32576114		2200	4291	6491	-	-	-	SO:0001583	missense	0			AF078849	CCDS2654.1	3p23	2013-01-18	2005-11-25	2005-11-25	ENSG00000144635	ENSG00000144635		"""Cytoplasmic dyneins"""	18745	protein-coding gene	gene with protein product		615890	"""dynein, cytoplasmic, light intermediate polypeptide 1"""	DNCLI1		16260502	Standard	NM_016141		Approved		uc003cfb.4	Q9Y6G9	OTTHUMG00000130750	ENST00000273130.4:c.857C>T	3.37:g.32576114G>A	ENSP00000273130:p.Ser286Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRG7|Q53HC8|Q53HK7	Missense_Mutation	SNP	pfam_Dynein_light_int_chain	p.S286L	ENST00000273130.4	37	c.857	CCDS2654.1	3	.	.	.	.	.	.	.	.	.	.	G	33	5.231736	0.95207	.	.	ENSG00000144635	ENST00000273130;ENST00000432458	T;T	0.58210	0.35;1.39	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.79476	0.4452	M	0.90082	3.085	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.81914	0.962;0.995	T	0.82370	-0.0491	10	0.87932	D	0	-16.0275	20.3754	0.98918	0.0:0.0:1.0:0.0	.	170;286	E9PHI6;Q9Y6G9	.;DC1L1_HUMAN	L	286;170	ENSP00000273130:S286L;ENSP00000407279:S170L	ENSP00000273130:S286L	S	-	2	0	DYNC1LI1	32551118	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.332000	0.96446	2.894000	0.99253	0.591000	0.81541	TCA	DYNC1LI1	-	pfam_Dynein_light_int_chain	ENSG00000144635		0.303	DYNC1LI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1LI1	HGNC	protein_coding	OTTHUMT00000253250.1	81	0.00	0	G	NM_016141		32576114	32576114	-1	no_errors	ENST00000273130	ensembl	human	known	69_37n	missense	68	18.07	15	SNP	1.000	A
DYNC1LI1	51143	genome.wustl.edu	37	3	32578551	32578551	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:32578551C>T	ENST00000273130.4	-	6	887	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K	DYNC1LI1_ENST00000432458.2_Missense_Mutation_p.E146K	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain 1	262					microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						TCAAAATGTTCATCTCTGTAG	0.259																																						dbGAP											0													90.0	86.0	88.0					3																	32578551		2202	4288	6490	-	-	-	SO:0001583	missense	0			AF078849	CCDS2654.1	3p23	2013-01-18	2005-11-25	2005-11-25	ENSG00000144635	ENSG00000144635		"""Cytoplasmic dyneins"""	18745	protein-coding gene	gene with protein product		615890	"""dynein, cytoplasmic, light intermediate polypeptide 1"""	DNCLI1		16260502	Standard	NM_016141		Approved		uc003cfb.4	Q9Y6G9	OTTHUMG00000130750	ENST00000273130.4:c.784G>A	3.37:g.32578551C>T	ENSP00000273130:p.Glu262Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRG7|Q53HC8|Q53HK7	Missense_Mutation	SNP	pfam_Dynein_light_int_chain	p.E262K	ENST00000273130.4	37	c.784	CCDS2654.1	3	.	.	.	.	.	.	.	.	.	.	C	35	5.524579	0.96431	.	.	ENSG00000144635	ENST00000273130;ENST00000432458	T;T	0.34859	1.34;1.34	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.66025	0.2748	M	0.84219	2.685	0.80722	D	1	D;P	0.76494	0.999;0.94	D;D	0.81914	0.995;0.928	T	0.69978	-0.4998	10	0.87932	D	0	-26.539	19.7414	0.96232	0.0:1.0:0.0:0.0	.	146;262	E9PHI6;Q9Y6G9	.;DC1L1_HUMAN	K	262;146	ENSP00000273130:E262K;ENSP00000407279:E146K	ENSP00000273130:E262K	E	-	1	0	DYNC1LI1	32553555	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.790000	0.85794	2.658000	0.90341	0.467000	0.42956	GAA	DYNC1LI1	-	pfam_Dynein_light_int_chain	ENSG00000144635		0.259	DYNC1LI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1LI1	HGNC	protein_coding	OTTHUMT00000253250.1	83	0.00	0	C	NM_016141		32578551	32578551	-1	no_errors	ENST00000273130	ensembl	human	known	69_37n	missense	82	18.81	19	SNP	1.000	T
DYNC1LI1	51143	genome.wustl.edu	37	3	32612233	32612233	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:32612233G>A	ENST00000273130.4	-	1	133	c.30C>T	c.(28-30)ttC>ttT	p.F10F	DYNC1LI1_ENST00000432458.2_Silent_p.F10F	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain 1	10					microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						GAGAAGAACCGAAGGAGCCGA	0.672																																						dbGAP											0													27.0	30.0	29.0					3																	32612233		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0			AF078849	CCDS2654.1	3p23	2013-01-18	2005-11-25	2005-11-25	ENSG00000144635	ENSG00000144635		"""Cytoplasmic dyneins"""	18745	protein-coding gene	gene with protein product		615890	"""dynein, cytoplasmic, light intermediate polypeptide 1"""	DNCLI1		16260502	Standard	NM_016141		Approved		uc003cfb.4	Q9Y6G9	OTTHUMG00000130750	ENST00000273130.4:c.30C>T	3.37:g.32612233G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRG7|Q53HC8|Q53HK7	Silent	SNP	pfam_Dynein_light_int_chain	p.F10	ENST00000273130.4	37	c.30	CCDS2654.1	3																																																																																			DYNC1LI1	-	NULL	ENSG00000144635		0.672	DYNC1LI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1LI1	HGNC	protein_coding	OTTHUMT00000253250.1	25	0.00	0	G	NM_016141		32612233	32612233	-1	no_errors	ENST00000273130	ensembl	human	known	69_37n	silent	3	66.67	6	SNP	1.000	A
DYNC2H1	79659	genome.wustl.edu	37	11	103036729	103036729	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:103036729G>C	ENST00000375735.2	+	31	4858	c.4714G>C	c.(4714-4716)Gag>Cag	p.E1572Q	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.E1572Q|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1572	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GAATAAGTTAGAGCAATATAC	0.353																																						dbGAP											0													36.0	34.0	34.0					11																	103036729		1698	3768	5466	-	-	-	SO:0001583	missense	0			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.4714G>C	11.37:g.103036729G>C	ENSP00000364887:p.Glu1572Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.E1572Q	ENST00000375735.2	37	c.4714	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	G	12.06	1.823918	0.32237	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.29142	1.58;1.58	5.31	5.31	0.75309	.	1.524830	0.05649	U	0.584781	T	0.34454	0.0898	L	0.40543	1.245	0.54753	D	0.999981	B;B	0.27192	0.049;0.171	B;B	0.28991	0.03;0.097	T	0.17745	-1.0359	10	0.17369	T	0.5	.	19.3411	0.94342	0.0:0.0:1.0:0.0	.	1572;1572	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	Q	1572	ENSP00000364887:E1572Q;ENSP00000381167:E1572Q	ENSP00000364887:E1572Q	E	+	1	0	DYNC2H1	102541939	1.000000	0.71417	0.993000	0.49108	0.491000	0.33493	7.551000	0.82182	2.632000	0.89209	0.484000	0.47621	GAG	DYNC2H1	-	NULL	ENSG00000187240		0.353	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	37	0.00	0	G	XM_370652		103036729	103036729	+1	no_errors	ENST00000398093	ensembl	human	known	69_37n	missense	30	21.05	8	SNP	1.000	C
DYNC2H1	79659	genome.wustl.edu	37	11	103229063	103229063	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:103229063C>G	ENST00000375735.2	+	83	12276	c.12132C>G	c.(12130-12132)ctC>ctG	p.L4044L	DYNC2H1_ENST00000398093.3_Silent_p.L4051L|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	4044					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CTCCTGTCCTCAATCTCTGGA	0.403																																						dbGAP											0													72.0	64.0	66.0					11																	103229063		1843	4088	5931	-	-	-	SO:0001819	synonymous_variant	0			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.12132C>G	11.37:g.103229063C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Silent	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.L4051	ENST00000375735.2	37	c.12153	CCDS53701.1	11																																																																																			DYNC2H1	-	pfam_Dynein_heavy	ENSG00000187240		0.403	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	138	0.00	0	C	XM_370652		103229063	103229063	+1	no_errors	ENST00000398093	ensembl	human	known	69_37n	silent	99	22.66	29	SNP	0.999	G
DYNLL1	8655	genome.wustl.edu	37	12	120935920	120935920	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:120935920G>A	ENST00000392509.2	+	3	438	c.177G>A	c.(175-177)ggG>ggA	p.G59G	DYNLL1_ENST00000392508.2_Silent_p.G59G|DYNLL1-AS1_ENST00000500741.2_RNA|DYNLL1_ENST00000552870.1_Intron|DYNLL1_ENST00000549989.1_Silent_p.G59G|DYNLL1_ENST00000552316.1_3'UTR|DYNLL1_ENST00000242577.6_Silent_p.G59G|DYNLL1_ENST00000548342.1_Silent_p.G59G	NM_001037494.1	NP_001032583.1	P63167	DYL1_HUMAN	dynein, light chain, LC8-type 1	59					actin cytoskeleton organization (GO:0030036)|anatomical structure morphogenesis (GO:0009653)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|apoptotic process (GO:0006915)|female gamete generation (GO:0007292)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|regulation of transcription, DNA-templated (GO:0006355)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	motor activity (GO:0003774)|nitric-oxide synthase regulator activity (GO:0030235)					all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCATCGTGGGGAGGAACTTCG	0.418																																						dbGAP											0													96.0	84.0	88.0					12																	120935920		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U32944	CCDS9200.1	12q24.23	2013-05-30	2005-11-25	2005-11-25	ENSG00000088986	ENSG00000088986		"""Cytoplasmic dyneins"""	15476	protein-coding gene	gene with protein product		601562	"""dynein, cytoplasmic, light polypeptide 1"""	DNCL1		8628263, 8864115, 16260502	Standard	NM_001037494		Approved	hdlc1, DLC1, PIN, LC8, DLC8	uc001tym.3	P63167	OTTHUMG00000169368	ENST00000392509.2:c.177G>A	12.37:g.120935920G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q15701	Silent	SNP	pfam_Dynein_light_chain_typ-1/2,superfamily_Dynein_light_chain_typ-1/2	p.G59	ENST00000392509.2	37	c.177	CCDS9200.1	12																																																																																			DYNLL1	-	pfam_Dynein_light_chain_typ-1/2,superfamily_Dynein_light_chain_typ-1/2	ENSG00000088986		0.418	DYNLL1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DYNLL1	HGNC	protein_coding	OTTHUMT00000403709.1	90	0.00	0	G	NM_003746		120935920	120935920	+1	no_errors	ENST00000242577	ensembl	human	known	69_37n	silent	77	20.62	20	SNP	1.000	A
DYRK1A	1859	genome.wustl.edu	37	21	38878481	38878481	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr21:38878481C>A	ENST00000398960.2	+	10	1701	c.1626C>A	c.(1624-1626)ttC>ttA	p.F542L	DYRK1A_ENST00000339659.4_Missense_Mutation_p.F533L|DYRK1A_ENST00000398956.2_Intron|DYRK1A_ENST00000321219.8_Intron|DYRK1A_ENST00000451934.1_Missense_Mutation_p.F542L|DYRK1A_ENST00000455387.2_Missense_Mutation_p.F314L|DYRK1A_ENST00000338785.3_Missense_Mutation_p.F542L	NM_001396.3|NM_130438.2	NP_001387.2|NP_569122.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	542					circadian rhythm (GO:0007623)|mitotic cell cycle (GO:0000278)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|nervous system development (GO:0007399)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of protein deacetylation (GO:0090312)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|tau protein binding (GO:0048156)			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						GTGGGCACTTCACAGCTGCCG	0.582																																					Melanoma(114;464 1602 31203 43785 45765)	dbGAP											0													86.0	72.0	77.0					21																	38878481		2203	4300	6503	-	-	-	SO:0001583	missense	0			U52373	CCDS13653.1, CCDS13654.1, CCDS42925.1, CCDS42926.1	21q22.13	2010-04-21			ENSG00000157540	ENSG00000157540			3091	protein-coding gene	gene with protein product		600855		DYRK1, DYRK, MNBH		9284911	Standard	NM_130436		Approved		uc002ywk.3	Q13627	OTTHUMG00000086657	ENST00000398960.2:c.1626C>A	21.37:g.38878481C>A	ENSP00000381932:p.Phe542Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	O60769|Q92582|Q92810|Q9UNM5	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.F542L	ENST00000398960.2	37	c.1626	CCDS42925.1	21	.	.	.	.	.	.	.	.	.	.	C	18.80	3.701447	0.68501	.	.	ENSG00000157540	ENST00000338785;ENST00000339659;ENST00000451934;ENST00000398960;ENST00000455387	T;T;T;T;T	0.55588	0.57;0.51;0.57;0.52;1.06	5.44	3.61	0.41365	.	0.000000	0.85682	D	0.000000	T	0.36936	0.0985	N	0.24115	0.695	0.58432	D	0.999995	B;B;B	0.28291	0.001;0.022;0.206	B;B;B	0.30401	0.002;0.003;0.115	T	0.12785	-1.0534	10	0.16896	T	0.51	.	12.6481	0.56746	0.0:0.8589:0.0:0.1411	.	542;533;542	Q13627;Q13627-2;Q13627-5	DYR1A_HUMAN;.;.	L	542;533;542;542;314	ENSP00000342690:F542L;ENSP00000340373:F533L;ENSP00000416089:F542L;ENSP00000381932:F542L;ENSP00000407854:F314L	ENSP00000342690:F542L	F	+	3	2	DYRK1A	37800351	1.000000	0.71417	0.987000	0.45799	0.986000	0.74619	2.191000	0.42640	1.438000	0.47492	0.650000	0.86243	TTC	DYRK1A	-	NULL	ENSG00000157540		0.582	DYRK1A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	DYRK1A	HGNC	protein_coding	OTTHUMT00000194804.1	38	0.00	0	C	NM_001396		38878481	38878481	+1	no_errors	ENST00000398960	ensembl	human	known	69_37n	missense	30	26.19	11	SNP	1.000	A
DYRK3	8444	genome.wustl.edu	37	1	206820844	206820844	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:206820844C>T	ENST00000367109.2	+	3	469	c.301C>T	c.(301-303)Cag>Tag	p.Q101*	DYRK3_ENST00000367106.1_Nonsense_Mutation_p.Q81*|DYRK3_ENST00000367108.3_Nonsense_Mutation_p.Q81*|DYRK3_ENST00000489878.1_Intron	NM_003582.2	NP_003573.2	O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	101					erythrocyte differentiation (GO:0030218)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			CAATACTATTCAGTCAGATGG	0.393																																					Melanoma(164;427 2622 26826 51707)	dbGAP											0													132.0	129.0	130.0					1																	206820844		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			Y12735	CCDS30999.1, CCDS31000.1	1q32	2008-07-18			ENSG00000143479	ENSG00000143479	2.7.12.1		3094	protein-coding gene	gene with protein product	"""regulatory erythroid kinase"", ""dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 5"", ""protein kinase Dyrk3"""	603497				9748265	Standard	NM_003582		Approved	RED, REDK, hYAK3-2	uc001hej.3	O43781	OTTHUMG00000036339	ENST00000367109.2:c.301C>T	1.37:g.206820844C>T	ENSP00000356076:p.Gln101*	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DT79|Q7Z752|Q9HBY6|Q9HBY7	Nonsense_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.Q101*	ENST00000367109.2	37	c.301	CCDS30999.1	1	.	.	.	.	.	.	.	.	.	.	C	8.803	0.933290	0.18131	.	.	ENSG00000143479	ENST00000367109;ENST00000367108;ENST00000441486;ENST00000367106	.	.	.	5.5	3.6	0.41247	.	0.465907	0.24769	N	0.035756	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	9.7771	0.40626	0.283:0.5801:0.137:0.0	.	.	.	.	X	101;81;81;81	.	ENSP00000356073:Q81X	Q	+	1	0	DYRK3	204887467	1.000000	0.71417	0.382000	0.26119	0.007000	0.05969	4.811000	0.62606	0.680000	0.31366	-1.078000	0.02229	CAG	DYRK3	-	NULL	ENSG00000143479		0.393	DYRK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYRK3	HGNC	protein_coding	OTTHUMT00000088458.1	90	0.00	0	C	NM_003582		206820844	206820844	+1	no_errors	ENST00000367109	ensembl	human	known	69_37n	nonsense	52	45.26	43	SNP	0.935	T
DYSF	8291	genome.wustl.edu	37	2	71747332	71747332	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:71747332G>C	ENST00000258104.3	+	10	1208	c.931G>C	c.(931-933)Gag>Cag	p.E311Q	DYSF_ENST00000409651.1_Missense_Mutation_p.E343Q|DYSF_ENST00000429174.2_Missense_Mutation_p.E311Q|DYSF_ENST00000409762.1_Missense_Mutation_p.E342Q|DYSF_ENST00000410020.3_Missense_Mutation_p.E343Q|DYSF_ENST00000413539.2_Missense_Mutation_p.E342Q|DYSF_ENST00000409582.3_Missense_Mutation_p.E342Q|DYSF_ENST00000410041.1_Missense_Mutation_p.E343Q|DYSF_ENST00000409744.1_Missense_Mutation_p.E312Q|DYSF_ENST00000394120.2_Missense_Mutation_p.E312Q|DYSF_ENST00000409366.1_Missense_Mutation_p.E312Q	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	311					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CATTTACAGAGAGCCCCGTGA	0.498																																						dbGAP											0													227.0	186.0	200.0					2																	71747332		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.931G>C	2.37:g.71747332G>C	ENSP00000258104:p.Glu311Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_MFS_dom_general_subst_transpt,smart_C2_Ca-dep,smart_Peroxin/Ferlin,pfscan_C2_membr_targeting	p.E342Q	ENST00000258104.3	37	c.1024	CCDS1918.1	2	.	.	.	.	.	.	.	.	.	.	G	21.0	4.083625	0.76642	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	T;T;T;T;T;T;T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14;-1.14;-1.14;-1.14;-1.14;-1.14;-1.14	4.62	4.62	0.57501	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);FerIin domain (1);	0.000000	0.85682	D	0.000000	T	0.75982	0.3924	N	0.13272	0.32	0.41997	D	0.990876	D;D;D;D;D;P;D;D;D;P;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.991;0.733;0.991;0.98;1.0;0.851;0.998;0.999;1.0;1.0	D;D;D;D;D;P;D;D;D;P;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.958;0.623;0.958;0.948;0.999;0.623;0.969;0.999;0.999;0.999	T	0.69800	-0.5047	10	0.08381	T	0.77	-36.5932	15.8034	0.78473	0.0:0.0:1.0:0.0	.	343;343;312;312;343;312;342;311;342;342;311;311;312;311	O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	Q	342;342;342;311;311;343;312;312;312;343;343	ENSP00000407046:E342Q;ENSP00000387137:E342Q;ENSP00000386547:E342Q;ENSP00000398305:E311Q;ENSP00000258104:E311Q;ENSP00000386683:E343Q;ENSP00000377678:E312Q;ENSP00000386285:E312Q;ENSP00000386512:E312Q;ENSP00000386881:E343Q;ENSP00000386617:E343Q	ENSP00000258104:E311Q	E	+	1	0	DYSF	71600840	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.698000	0.74608	2.517000	0.84864	0.465000	0.42564	GAG	DYSF	-	pfam_FerIin-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	ENSG00000135636		0.498	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DYSF	HGNC	protein_coding	OTTHUMT00000251970.3	110	0.00	0	G	NM_003494		71747332	71747332	+1	no_errors	ENST00000413539	ensembl	human	known	69_37n	missense	133	15.82	25	SNP	1.000	C
DYSF	8291	genome.wustl.edu	37	2	71909714	71909714	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:71909714C>T	ENST00000258104.3	+	54	6388	c.6111C>T	c.(6109-6111)ttC>ttT	p.F2037F	DYSF_ENST00000409651.1_Silent_p.F2069F|DYSF_ENST00000429174.2_Silent_p.F2058F|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409762.1_Silent_p.F2054F|DYSF_ENST00000410020.3_Silent_p.F2076F|DYSF_ENST00000413539.2_Silent_p.F2068F|DYSF_ENST00000409582.3_Silent_p.F2075F|DYSF_ENST00000410041.1_Silent_p.F2055F|DYSF_ENST00000409744.1_Silent_p.F2045F|DYSF_ENST00000394120.2_Silent_p.F2038F|DYSF_ENST00000409366.1_Silent_p.F2059F	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	2037					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CCATGAAGTTCATCCTGTGGC	0.572																																						dbGAP											0													178.0	132.0	148.0					2																	71909714		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.6111C>T	2.37:g.71909714C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Silent	SNP	pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_MFS_dom_general_subst_transpt,smart_C2_Ca-dep,smart_Peroxin/Ferlin,pfscan_C2_membr_targeting	p.F2068	ENST00000258104.3	37	c.6204	CCDS1918.1	2																																																																																			DYSF	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000135636		0.572	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DYSF	HGNC	protein_coding	OTTHUMT00000251970.3	193	0.00	0	C	NM_003494		71909714	71909714	+1	no_errors	ENST00000413539	ensembl	human	known	69_37n	silent	133	35.12	72	SNP	1.000	T
DZIP3	9666	genome.wustl.edu	37	3	108344740	108344740	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:108344740C>T	ENST00000361582.3	+	7	735	c.505C>T	c.(505-507)Caa>Taa	p.Q169*	DZIP3_ENST00000463306.1_Nonsense_Mutation_p.Q169*	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	169					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						GATGATGATCCAAGAAAATGA	0.313																																						dbGAP											0													102.0	105.0	104.0					3																	108344740		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.505C>T	3.37:g.108344740C>T	ENSP00000355028:p.Gln169*	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Nonsense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.Q169*	ENST00000361582.3	37	c.505	CCDS2952.1	3	.	.	.	.	.	.	.	.	.	.	C	36	5.807082	0.96967	.	.	ENSG00000198919	ENST00000393969;ENST00000361582;ENST00000486815;ENST00000479138;ENST00000463306	.	.	.	5.09	5.09	0.68999	.	0.120004	0.38005	N	0.001846	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-2.2836	13.9139	0.63885	0.0:1.0:0.0:0.0	.	.	.	.	X	169;169;85;169;169	.	ENSP00000355028:Q169X	Q	+	1	0	DZIP3	109827430	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	3.298000	0.51818	2.661000	0.90470	0.644000	0.83932	CAA	DZIP3	-	NULL	ENSG00000198919		0.313	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DZIP3	HGNC	protein_coding	OTTHUMT00000353968.1	134	0.00	0	C	NM_014648		108344740	108344740	+1	no_errors	ENST00000361582	ensembl	human	known	69_37n	nonsense	126	17.11	26	SNP	1.000	T
DZIP3	9666	genome.wustl.edu	37	3	108403129	108403129	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:108403129C>G	ENST00000361582.3	+	27	3180	c.2950C>G	c.(2950-2952)Caa>Gaa	p.Q984E	DZIP3_ENST00000463306.1_Missense_Mutation_p.Q984E	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	984					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q984E(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						TACTGTTCCTCAAATGCCTGC	0.393																																						dbGAP											1	Substitution - Missense(1)	lung(1)											161.0	184.0	176.0					3																	108403129		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.2950C>G	3.37:g.108403129C>G	ENSP00000355028:p.Gln984Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.Q984E	ENST00000361582.3	37	c.2950	CCDS2952.1	3	.	.	.	.	.	.	.	.	.	.	C	15.28	2.786449	0.49997	.	.	ENSG00000198919	ENST00000361582;ENST00000463306	T;T	0.18338	2.22;2.22	5.35	5.35	0.76521	.	0.304042	0.24267	N	0.040036	T	0.16981	0.0408	L	0.47716	1.5	0.32098	N	0.590928	B;B	0.29037	0.231;0.018	B;B	0.32211	0.142;0.01	T	0.07751	-1.0756	10	0.13108	T	0.6	-0.4732	14.4364	0.67284	0.0:1.0:0.0:0.0	.	602;984	D3DN61;Q86Y13	.;DZIP3_HUMAN	E	984	ENSP00000355028:Q984E;ENSP00000419981:Q984E	ENSP00000355028:Q984E	Q	+	1	0	DZIP3	109885819	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.347000	0.52200	2.789000	0.95967	0.655000	0.94253	CAA	DZIP3	-	NULL	ENSG00000198919		0.393	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DZIP3	HGNC	protein_coding	OTTHUMT00000353968.1	88	0.00	0	C	NM_014648		108403129	108403129	+1	no_errors	ENST00000361582	ensembl	human	known	69_37n	missense	69	19.77	17	SNP	1.000	G
E2F3	1871	genome.wustl.edu	37	6	20483009	20483009	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:20483009G>C	ENST00000346618.3	+	4	808	c.742G>C	c.(742-744)Gag>Cag	p.E248Q	E2F3_ENST00000535432.1_Missense_Mutation_p.E117Q	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	248	Dimerization. {ECO:0000255}.				mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			CAGTCTGTCTGAGGATGGGGG	0.507																																						dbGAP											0													71.0	69.0	69.0					6																	20483009		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y10479	CCDS4545.1, CCDS58999.1	6p22	2008-08-29			ENSG00000112242	ENSG00000112242			3115	protein-coding gene	gene with protein product		600427				8246996	Standard	NM_001949		Approved		uc003nda.2	O00716	OTTHUMG00000016389	ENST00000346618.3:c.742G>C	6.37:g.20483009G>C	ENSP00000262904:p.Glu248Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15000|Q68DT0|Q9BZ44	Missense_Mutation	SNP	pfam_E2F_TDP	p.E248Q	ENST00000346618.3	37	c.742	CCDS4545.1	6	.	.	.	.	.	.	.	.	.	.	G	14.48	2.546884	0.45383	.	.	ENSG00000112242	ENST00000346618;ENST00000535432	D;D	0.87571	-2.27;-2.27	5.52	5.52	0.82312	.	0.211783	0.48767	D	0.000169	T	0.80042	0.4551	L	0.43923	1.385	0.51012	D	0.999905	B;P	0.37176	0.001;0.586	B;B	0.41374	0.01;0.355	T	0.77667	-0.2502	10	0.15066	T	0.55	.	19.6296	0.95694	0.0:0.0:1.0:0.0	.	248;117	O00716;Q68DT0	E2F3_HUMAN;.	Q	248;117	ENSP00000262904:E248Q;ENSP00000443418:E117Q	ENSP00000262904:E248Q	E	+	1	0	E2F3	20590988	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.263000	0.95617	2.873000	0.98535	0.563000	0.77884	GAG	E2F3	-	NULL	ENSG00000112242		0.507	E2F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	E2F3	HGNC	protein_coding	OTTHUMT00000043828.1	98	0.00	0	G			20483009	20483009	+1	no_errors	ENST00000346618	ensembl	human	known	69_37n	missense	74	20.43	19	SNP	1.000	C
E2F3	1871	genome.wustl.edu	37	6	20483090	20483090	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:20483090G>A	ENST00000346618.3	+	4	889	c.823G>A	c.(823-825)Gaa>Aaa	p.E275K	E2F3_ENST00000535432.1_Missense_Mutation_p.E144K	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	275	Dimerization. {ECO:0000255}.				mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			GAAATTAGATGAACTGATCCA	0.507																																						dbGAP											0													90.0	80.0	83.0					6																	20483090		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y10479	CCDS4545.1, CCDS58999.1	6p22	2008-08-29			ENSG00000112242	ENSG00000112242			3115	protein-coding gene	gene with protein product		600427				8246996	Standard	NM_001949		Approved		uc003nda.2	O00716	OTTHUMG00000016389	ENST00000346618.3:c.823G>A	6.37:g.20483090G>A	ENSP00000262904:p.Glu275Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15000|Q68DT0|Q9BZ44	Missense_Mutation	SNP	pfam_E2F_TDP	p.E275K	ENST00000346618.3	37	c.823	CCDS4545.1	6	.	.	.	.	.	.	.	.	.	.	G	18.82	3.704659	0.68615	.	.	ENSG00000112242	ENST00000346618;ENST00000535432	D;D	0.88201	-2.35;-2.35	5.52	5.52	0.82312	.	0.157809	0.56097	D	0.000028	T	0.81997	0.4941	L	0.46885	1.475	0.80722	D	1	B;B	0.25563	0.129;0.072	B;B	0.23419	0.046;0.027	T	0.77233	-0.2663	10	0.33141	T	0.24	.	19.6296	0.95694	0.0:0.0:1.0:0.0	.	275;144	O00716;Q68DT0	E2F3_HUMAN;.	K	275;144	ENSP00000262904:E275K;ENSP00000443418:E144K	ENSP00000262904:E275K	E	+	1	0	E2F3	20591069	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.116000	0.64661	2.873000	0.98535	0.563000	0.77884	GAA	E2F3	-	NULL	ENSG00000112242		0.507	E2F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	E2F3	HGNC	protein_coding	OTTHUMT00000043828.1	77	0.00	0	G			20483090	20483090	+1	no_errors	ENST00000346618	ensembl	human	known	69_37n	missense	59	29.76	25	SNP	1.000	A
E2F8	79733	genome.wustl.edu	37	11	19252338	19252338	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:19252338C>T	ENST00000527884.1	-	8	1342	c.1110G>A	c.(1108-1110)gtG>gtA	p.V370V	RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Silent_p.V370V	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	370					cell cycle comprising mitosis without cytokinesis (GO:0033301)|chorionic trophoblast cell differentiation (GO:0060718)|hepatocyte differentiation (GO:0070365)|negative regulation of cytokinesis (GO:0032466)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.V370V(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AAGACCGTCTCACCTCCAAAT	0.433																																						dbGAP											1	Substitution - coding silent(1)	urinary_tract(1)											66.0	65.0	65.0					11																	19252338		2199	4293	6492	-	-	-	SO:0001819	synonymous_variant	0				CCDS7849.1	11p15	2008-02-05			ENSG00000129173	ENSG00000129173			24727	protein-coding gene	gene with protein product		612047				15722552	Standard	NM_024680		Approved	FLJ23311	uc001mpo.2	A0AVK6	OTTHUMG00000166102	ENST00000527884.1:c.1110G>A	11.37:g.19252338C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0	Silent	SNP	pfam_E2F_TDP	p.V370	ENST00000527884.1	37	c.1110	CCDS7849.1	11																																																																																			E2F8	-	NULL	ENSG00000129173		0.433	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	E2F8	HGNC	protein_coding	OTTHUMT00000387830.1	80	0.00	0	C	NM_024680		19252338	19252338	-1	no_errors	ENST00000250024	ensembl	human	known	69_37n	silent	60	30.23	26	SNP	0.000	T
EBF3	253738	genome.wustl.edu	37	10	131638628	131638628	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:131638628G>A	ENST00000355311.5	-	15	1712	c.1640C>T	c.(1639-1641)tCa>tTa	p.S547L	MIR4297_ENST00000579857.1_RNA|EBF3_ENST00000368648.3_Intron			Q9H4W6	COE3_HUMAN	early B-cell factor 3	547	Pro/Ser/Thr-rich.				multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		AGGTGAGAATGAGAAAATGCC	0.597																																						dbGAP											0													30.0	28.0	28.0					10																	131638628		2190	4289	6479	-	-	-	SO:0001583	missense	0				CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.1640C>T	10.37:g.131638628G>A	ENSP00000347463:p.Ser547Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AUY1|Q5T6H9|Q9H4W5	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt	p.S547L	ENST00000355311.5	37	c.1640		10	.	.	.	.	.	.	.	.	.	.	G	19.85	3.903548	0.72754	.	.	ENSG00000108001	ENST00000355311	T	0.47528	0.84	4.72	4.72	0.59763	.	0.200113	0.45606	D	0.000345	T	0.59074	0.2167	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55309	-0.8161	7	0.30078	T	0.28	-3.0837	18.0858	0.89457	0.0:0.0:1.0:0.0	.	.	.	.	L	547	ENSP00000347463:S547L	ENSP00000347463:S547L	S	-	2	0	EBF3	131528618	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.801000	0.99128	2.328000	0.79073	0.462000	0.41574	TCA	EBF3	-	NULL	ENSG00000108001		0.597	EBF3-001	KNOWN	basic|appris_principal	protein_coding	EBF3	HGNC	protein_coding	OTTHUMT00000051015.2	29	0.00	0	G	NM_001005463		131638628	131638628	-1	no_errors	ENST00000355311	ensembl	human	known	69_37n	missense	12	33.33	6	SNP	1.000	A
ECE2	9718	genome.wustl.edu	37	3	183967551	183967551	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:183967551C>G	ENST00000402825.3	+	1	69	c.69C>G	c.(67-69)gtC>gtG	p.V23V	EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000397676.3_5'Flank|ALG3_ENST00000418734.2_5'Flank|ALG3_ENST00000445626.2_5'Flank|ECE2_ENST00000324557.4_Silent_p.V23V|ALG3_ENST00000455059.1_5'Flank	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	23	Methyltransferase-like region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ACCGCGAAGTCGAGTACTGGG	0.672											OREG0015944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													45.0	45.0	45.0					3																	183967551		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.69C>G	3.37:g.183967551C>G		Somatic	1988	WXS	Illumina GAIIx	Phase_IV	A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Silent	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,pfam_Methyltransf_11,prints_Peptidase_M13_C	p.V23	ENST00000402825.3	37	c.69	CCDS3256.2	3																																																																																			ECE2	-	NULL	ENSG00000145194		0.672	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECE2	HGNC	protein_coding	OTTHUMT00000318874.3	12	0.00	0	C	NM_014693		183967551	183967551	+1	no_errors	ENST00000402825	ensembl	human	known	69_37n	silent	15	21.05	4	SNP	0.981	G
ECHDC1	55862	genome.wustl.edu	37	6	127648182	127648182	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:127648182C>G	ENST00000531967.1	-	3	849	c.346G>C	c.(346-348)Gat>Cat	p.D116H	ECHDC1_ENST00000528402.1_Missense_Mutation_p.D35H|ECHDC1_ENST00000454859.3_Missense_Mutation_p.D110H|ECHDC1_ENST00000474289.2_Missense_Mutation_p.D110H|ECHDC1_ENST00000430841.2_Missense_Mutation_p.D110H|ECHDC1_ENST00000368289.2_Missense_Mutation_p.D110H|ECHDC1_ENST00000368291.2_Missense_Mutation_p.D110H|ECHDC1_ENST00000309620.9_Missense_Mutation_p.D110H|ECHDC1_ENST00000454591.2_Missense_Mutation_p.D35H	NM_001139510.1	NP_001132982.1	Q9NTX5	ECHD1_HUMAN	enoyl CoA hydratase domain containing 1	116						cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxy-lyase activity (GO:0016831)|methylmalonyl-CoA decarboxylase activity (GO:0004492)			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156)		GCATTCAGATCAGATCCTGAA	0.378																																						dbGAP											0													124.0	116.0	119.0					6																	127648182		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK025796	CCDS34530.1, CCDS43504.1, CCDS47471.1, CCDS47472.1, CCDS55054.1	6q22.33	2011-12-12	2010-04-30		ENSG00000093144	ENSG00000093144			21489	protein-coding gene	gene with protein product		612136	"""enoyl Coenzyme A hydratase domain containing 1"""			22016388	Standard	NM_001002030		Approved	dJ351K20.2	uc003qax.3	Q9NTX5	OTTHUMG00000015523	ENST00000531967.1:c.346G>C	6.37:g.127648182C>G	ENSP00000436585:p.Asp116His	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFJ5|B7Z8S0|E9PEN7|E9PR31|F8W851|Q5TEF6|Q5TEF7|Q5TEG0|Q5TEG4|Q9NZ30|V9HW18	Missense_Mutation	SNP	pfam_Crotonase_core	p.D116H	ENST00000531967.1	37	c.346	CCDS47471.1	6	.	.	.	.	.	.	.	.	.	.	C	20.3	3.960722	0.74016	.	.	ENSG00000093144	ENST00000454859;ENST00000531967;ENST00000368293;ENST00000368290;ENST00000474289;ENST00000528402;ENST00000454591;ENST00000368291;ENST00000309620;ENST00000430841;ENST00000368289;ENST00000525745;ENST00000534442;ENST00000531582	D;D;D;D;D;D;D;D;D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1;-2.1;-2.1;-2.1;-2.1;-2.1;-2.1;-2.1;-2.1	5.29	4.43	0.53597	Crotonase, core (1);	0.000000	0.85682	D	0.000000	D	0.92993	0.7770	M	0.88570	2.965	0.58432	D	0.999997	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.958;0.998;1.0	D	0.94386	0.7609	10	0.87932	D	0	-5.1919	13.9979	0.64414	0.0:0.9278:0.0:0.0722	.	35;110;116	E9PR31;Q5TEF6;Q9NTX5	.;.;ECHD1_HUMAN	H	110;116;42;110;110;35;35;110;110;110;110;110;110;110	ENSP00000401751:D110H;ENSP00000436585:D116H;ENSP00000434908:D110H;ENSP00000436109:D35H;ENSP00000404866:D35H;ENSP00000357274:D110H;ENSP00000311115:D110H;ENSP00000402492:D110H;ENSP00000357272:D110H;ENSP00000435068:D110H;ENSP00000435502:D110H;ENSP00000434143:D110H	ENSP00000311115:D110H	D	-	1	0	ECHDC1	127689875	1.000000	0.71417	0.950000	0.38849	0.972000	0.66771	4.642000	0.61383	1.476000	0.48215	0.561000	0.74099	GAT	ECHDC1	-	pfam_Crotonase_core	ENSG00000093144		0.378	ECHDC1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ECHDC1	HGNC	protein_coding	OTTHUMT00000042131.2	88	0.00	0	C			127648182	127648182	-1	no_errors	ENST00000531967	ensembl	human	known	69_37n	missense	72	12.20	10	SNP	0.998	G
ECI1	1632	genome.wustl.edu	37	16	2290147	2290147	+	Splice_Site	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:2290147C>G	ENST00000301729.4	-	7	790		c.e7-1		ECI1_ENST00000570258.1_Splice_Site|RP11-304L19.11_ENST00000565709.1_RNA|ECI1_ENST00000562238.1_Splice_Site	NM_001919.3	NP_001910.2	P42126	ECI1_HUMAN	enoyl-CoA delta isomerase 1						cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	dodecenoyl-CoA delta-isomerase activity (GO:0004165)|intramolecular oxidoreductase activity (GO:0016860)			endometrium(1)|large_intestine(2)|lung(6)	9						CGAGCATGGTCTAAAGAGAAT	0.522																																						dbGAP											0													42.0	42.0	42.0					16																	2290147		2198	4300	6498	-	-	-	SO:0001630	splice_region_variant	0				CCDS10464.1, CCDS58410.1	16p13.3	2011-03-15	2011-03-15	2011-03-15	ENSG00000167969	ENSG00000167969	5.3.3.8		2703	protein-coding gene	gene with protein product	"""3,2 trans-enoyl-CoA isomerase"""	600305	"""dodecenoyl-Coenzyme A delta isomerase (3,2 trans-enoyl-Coenzyme A isomerase)"", ""dodecenoyl-CoA isomerase"""	DCI		7829074	Standard	NM_001178029		Approved		uc002cpr.3	P42126	OTTHUMG00000128830	ENST00000301729.4:c.743-1G>C	16.37:g.2290147C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K512|Q13290|Q7Z2L6|Q7Z2L7|Q9BUB8|Q9BW05|Q9UDG6	Splice_Site	SNP	-	e7-1	ENST00000301729.4	37	c.743-1	CCDS10464.1	16	.	.	.	.	.	.	.	.	.	.	C	12.09	1.835105	0.32421	.	.	ENSG00000167969	ENST00000301729	.	.	.	5.06	5.06	0.68205	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9798	0.80097	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ECI1	2230148	1.000000	0.71417	0.745000	0.31077	0.649000	0.38597	7.557000	0.82243	2.622000	0.88805	0.561000	0.74099	.	ECI1	-	-	ENSG00000167969		0.522	ECI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ECI1	HGNC	protein_coding	OTTHUMT00000250768.1	62	0.00	0	C		Intron	2290147	2290147	-1	no_errors	ENST00000301729	ensembl	human	known	69_37n	splice_site	33	63.33	57	SNP	1.000	G
ECT2	1894	genome.wustl.edu	37	3	172482234	172482234	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:172482234C>T	ENST00000392692.3	+	12	1411	c.1235C>T	c.(1234-1236)tCc>tTc	p.S412F	ECT2_ENST00000232458.5_Missense_Mutation_p.S381F|ECT2_ENST00000427830.1_Missense_Mutation_p.S381F|ECT2_ENST00000417960.1_Missense_Mutation_p.S380F|ECT2_ENST00000540509.1_Missense_Mutation_p.S412F|ECT2_ENST00000441497.2_Missense_Mutation_p.S381F	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	412					activation of protein kinase activity (GO:0032147)|activation of Rac GTPase activity (GO:0032863)|activation of Rho GTPase activity (GO:0032862)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of Rho GTPase activity (GO:0032321)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|centralspindlin complex (GO:0097149)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			CATTCCCTTTCCATAGGGTCA	0.423																																						dbGAP											0													147.0	133.0	138.0					3																	172482234		2203	4300	6503	-	-	-	SO:0001583	missense	0			AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346		"""Rho guanine nucleotide exchange factors"""	3155	protein-coding gene	gene with protein product		600586	"""epithelial cell transforming sequence 2 oncogene"""			8464478, 10579713	Standard	NM_018098		Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000392692.3:c.1235C>T	3.37:g.172482234C>T	ENSP00000376457:p.Ser412Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Missense_Mutation	SNP	pfam_DH-domain,pfam_BRCT_dom,superfamily_DH-domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_DH-domain,pfscan_BRCT_dom,pfscan_DH-domain	p.S381F	ENST00000392692.3	37	c.1142	CCDS58860.1	3	.	.	.	.	.	.	.	.	.	.	C	29.1	4.973981	0.92919	.	.	ENSG00000114346	ENST00000232458;ENST00000392692;ENST00000427830;ENST00000417960;ENST00000441497;ENST00000540509	T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95	5.73	5.73	0.89815	Dbl homology (DH) domain (1);	0.000000	0.85682	D	0.000000	T	0.65165	0.2665	M	0.66939	2.045	0.80722	D	1	D;D;D;D	0.71674	0.996;0.995;0.998;0.995	D;D;D;D	0.75020	0.943;0.923;0.985;0.947	T	0.64630	-0.6362	10	0.56958	D	0.05	-17.4927	19.8961	0.96958	0.0:1.0:0.0:0.0	.	412;412;381;380	Q9H8V3;Q9H8V3-3;G5E9L8;Q9H8V3-2	ECT2_HUMAN;.;.;.	F	381;412;381;380;381;412	ENSP00000232458:S381F;ENSP00000376457:S412F;ENSP00000401910:S381F;ENSP00000415876:S380F;ENSP00000412259:S381F;ENSP00000443160:S412F	ENSP00000232458:S381F	S	+	2	0	ECT2	173964928	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.440000	0.80464	2.699000	0.92147	0.655000	0.94253	TCC	ECT2	-	NULL	ENSG00000114346		0.423	ECT2-003	NOVEL	basic|CCDS	protein_coding	ECT2	HGNC	protein_coding	OTTHUMT00000345994.2	120	0.00	0	C	NM_018098		172482234	172482234	+1	no_errors	ENST00000427830	ensembl	human	known	69_37n	missense	151	16.11	29	SNP	1.000	T
ECT2L	345930	genome.wustl.edu	37	6	139186270	139186270	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:139186270C>G	ENST00000423192.1	+	11	1590	c.1429C>G	c.(1429-1431)Cct>Gct	p.P477A	ECT2L_ENST00000367682.2_Missense_Mutation_p.P477A|ECT2L_ENST00000495970.1_3'UTR|ECT2L_ENST00000541398.1_Missense_Mutation_p.P408A			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	477							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						GCAGCTGTATCCTTTCTTCAA	0.448			"""N, Splice, Mis"""		ETP ALL																																	dbGAP		Rec	yes		6	6q24.1	345930	epithelial cell transforming sequence 2 oncogene-like		L	0													76.0	73.0	74.0					6																	139186270		1910	4116	6026	-	-	-	SO:0001583	missense	0				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.1429C>G	6.37:g.139186270C>G	ENSP00000387388:p.Pro477Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Missense_Mutation	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.P477A	ENST00000423192.1	37	c.1429	CCDS43508.1	6	.	.	.	.	.	.	.	.	.	.	C	13.30	2.194726	0.38806	.	.	ENSG00000203734	ENST00000423192;ENST00000367682;ENST00000541398	T;T;T	0.75821	0.14;0.14;-0.97	5.48	5.48	0.80851	.	0.161832	0.23135	U	0.051535	T	0.81527	0.4841	M	0.68952	2.095	0.33524	D	0.592783	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	T	0.81874	-0.0732	10	0.48119	T	0.1	-1.1988	16.2837	0.82709	0.0:1.0:0.0:0.0	.	408;477	F5H7S9;Q008S8	.;ECT2L_HUMAN	A	477;477;408	ENSP00000387388:P477A;ENSP00000356655:P477A;ENSP00000442307:P408A	ENSP00000356655:P477A	P	+	1	0	ECT2L	139227963	0.519000	0.26242	0.113000	0.21522	0.028000	0.11728	2.807000	0.47955	2.563000	0.86464	0.591000	0.81541	CCT	ECT2L	-	NULL	ENSG00000203734		0.448	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECT2L	HGNC	protein_coding	OTTHUMT00000042441.3	43	0.00	0	C	NM_001077706		139186270	139186270	+1	no_errors	ENST00000367682	ensembl	human	known	69_37n	missense	38	29.09	16	SNP	0.658	G
EDIL3	10085	genome.wustl.edu	37	5	83525691	83525691	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:83525691C>T	ENST00000296591.5	-	3	626	c.208G>A	c.(208-210)Gaa>Aaa	p.E70K	EDIL3_ENST00000380138.3_Intron	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	70					cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		GTTGGTTCTTCTTCATCTGAT	0.373																																						dbGAP											0													78.0	82.0	81.0					5																	83525691		2203	4300	6503	-	-	-	SO:0001583	missense	0			U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176			3173	protein-coding gene	gene with protein product		606018				9420328	Standard	NM_005711		Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047	ENST00000296591.5:c.208G>A	5.37:g.83525691C>T	ENSP00000296591:p.Glu70Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R763|O43855|Q5D094|Q8N610	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_EGF-like_dom,pfam_EGF_extracell,superfamily_Galactose-bd-like,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.E70K	ENST00000296591.5	37	c.208	CCDS4062.1	5	.	.	.	.	.	.	.	.	.	.	C	9.895	1.205420	0.22205	.	.	ENSG00000164176	ENST00000296591	D	0.93076	-3.16	5.53	5.53	0.82687	.	0.000000	0.46442	D	0.000283	D	0.87752	0.6256	N	0.17474	0.49	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	D	0.83797	0.0234	10	0.66056	D	0.02	-18.2944	14.9427	0.71006	0.0:1.0:0.0:0.0	.	70	O43854	EDIL3_HUMAN	K	70	ENSP00000296591:E70K	ENSP00000296591:E70K	E	-	1	0	EDIL3	83561447	1.000000	0.71417	1.000000	0.80357	0.369000	0.29798	2.087000	0.41653	2.616000	0.88540	0.491000	0.48974	GAA	EDIL3	-	NULL	ENSG00000164176		0.373	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EDIL3	HGNC	protein_coding	OTTHUMT00000239258.1	127	0.00	0	C	NM_005711		83525691	83525691	-1	no_errors	ENST00000296591	ensembl	human	known	69_37n	missense	85	26.09	30	SNP	1.000	T
EEA1	8411	genome.wustl.edu	37	12	93171721	93171721	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:93171721C>G	ENST00000322349.8	-	26	4153	c.3889G>C	c.(3889-3891)Gaa>Caa	p.E1297Q		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	1297					early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						AATCACCTTTCCAGTAGTGCT	0.323																																						dbGAP											0													122.0	114.0	117.0					12																	93171721		2203	4300	6503	-	-	-	SO:0001583	missense	0			L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"""Zinc fingers, FYVE domain containing"""	3185	protein-coding gene	gene with protein product		605070	"""early endosome antigen 1, 162kD"""			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.3889G>C	12.37:g.93171721C>G	ENSP00000317955:p.Glu1297Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14221	Missense_Mutation	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2	p.E1297Q	ENST00000322349.8	37	c.3889	CCDS31874.1	12	.	.	.	.	.	.	.	.	.	.	C	20.1	3.932562	0.73442	.	.	ENSG00000102189	ENST00000322349	T	0.69561	-0.41	5.61	5.61	0.85477	.	0.000000	0.53938	D	0.000045	T	0.69187	0.3083	L	0.36672	1.1	0.80722	D	1	D	0.53312	0.959	P	0.52481	0.7	T	0.65813	-0.6077	10	0.32370	T	0.25	.	19.6334	0.95719	0.0:1.0:0.0:0.0	.	1297	Q15075	EEA1_HUMAN	Q	1297	ENSP00000317955:E1297Q	ENSP00000317955:E1297Q	E	-	1	0	EEA1	91695852	1.000000	0.71417	0.975000	0.42487	0.220000	0.24768	7.594000	0.82698	2.629000	0.89072	0.585000	0.79938	GAA	EEA1	-	NULL	ENSG00000102189		0.323	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEA1	HGNC	protein_coding	OTTHUMT00000407304.1	114	0.00	0	C	NM_003566		93171721	93171721	-1	no_errors	ENST00000322349	ensembl	human	known	69_37n	missense	129	13.42	20	SNP	1.000	G
EEA1	8411	genome.wustl.edu	37	12	93220059	93220059	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:93220059C>T	ENST00000322349.8	-	13	1671	c.1407G>A	c.(1405-1407)ttG>ttA	p.L469L		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	469	Gln/Glu/Lys-rich.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						CTTTTTCCTTCAACTTAAAAA	0.343																																						dbGAP											0													136.0	121.0	126.0					12																	93220059		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"""Zinc fingers, FYVE domain containing"""	3185	protein-coding gene	gene with protein product		605070	"""early endosome antigen 1, 162kD"""			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.1407G>A	12.37:g.93220059C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14221	Silent	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2	p.L469	ENST00000322349.8	37	c.1407	CCDS31874.1	12																																																																																			EEA1	-	NULL	ENSG00000102189		0.343	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEA1	HGNC	protein_coding	OTTHUMT00000407304.1	212	0.00	0	C	NM_003566		93220059	93220059	-1	no_errors	ENST00000322349	ensembl	human	known	69_37n	silent	216	19.40	52	SNP	1.000	T
EEF1A2	1917	genome.wustl.edu	37	20	62129087	62129087	+	Missense_Mutation	SNP	G	G	C	rs376374917		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:62129087G>C	ENST00000298049.7	-	1	100	c.30C>G	c.(28-30)atC>atG	p.I10M	EEF1A2_ENST00000217182.3_Missense_Mutation_p.I10M			Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	10	tr-type G.				positive regulation of apoptotic process (GO:0043065)|response to inorganic substance (GO:0010035)	eukaryotic translation elongation factor 1 complex (GO:0005853)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			CGATGACCACGATGTTGATGT	0.587																																						dbGAP											0													168.0	144.0	152.0					20																	62129087		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF163763	CCDS13522.1	20q13.3	2010-06-03			ENSG00000101210	ENSG00000101210			3192	protein-coding gene	gene with protein product		602959	"""statin-like"", ""statin"""	STNL, STN		8354261, 8812466	Standard	NM_001958		Approved	EEF1AL, HS1	uc002yfe.2	Q05639	OTTHUMG00000033076	ENST00000298049.7:c.30C>G	20.37:g.62129087G>C	ENSP00000298049:p.Ile10Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B5BUF3|E1P5J1|P54266|Q0VGC7	Missense_Mutation	SNP	pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_ProtSyn_GTP-bd,tigrfam_Transl_elong_EF1A_euk/arc	p.I10M	ENST00000298049.7	37	c.30	CCDS13522.1	20	.	.	.	.	.	.	.	.	.	.	G	16.78	3.216540	0.58452	.	.	ENSG00000101210	ENST00000298049;ENST00000217182	T;T	0.55760	0.5;0.5	3.81	-2.55	0.06288	Protein synthesis factor, GTP-binding (2);	0.058238	0.64402	D	0.000004	T	0.59932	0.2230	M	0.80746	2.51	0.49798	D	0.999823	P	0.38863	0.65	P	0.51297	0.665	T	0.59516	-0.7440	10	0.87932	D	0	-5.2062	6.5502	0.22429	0.4422:0.0:0.4451:0.1127	.	10	Q05639	EF1A2_HUMAN	M	10	ENSP00000298049:I10M;ENSP00000217182:I10M	ENSP00000217182:I10M	I	-	3	3	EEF1A2	61599531	0.153000	0.22777	0.985000	0.45067	0.915000	0.54546	-0.589000	0.05767	-0.592000	0.05851	-0.291000	0.09656	ATC	EEF1A2	-	pfam_ProtSyn_GTP-bd,prints_ProtSyn_GTP-bd,tigrfam_Transl_elong_EF1A_euk/arc	ENSG00000101210		0.587	EEF1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF1A2	HGNC	protein_coding	OTTHUMT00000080495.1	83	0.00	0	G	NM_001958		62129087	62129087	-1	no_errors	ENST00000217182	ensembl	human	known	69_37n	missense	129	13.33	20	SNP	0.996	C
EEF2	1938	genome.wustl.edu	37	19	3977868	3977868	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:3977868G>C	ENST00000309311.6	-	12	2104	c.2016C>G	c.(2014-2016)ctC>ctG	p.L672L		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	672					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|positive regulation of gene expression (GO:0010628)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation activator activity (GO:0008494)|translation elongation factor activity (GO:0003746)			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		TGATCTCGTTGAGGTACTGCA	0.627																																					Colon(165;1804 1908 4071 6587 18799)	dbGAP											0													106.0	97.0	100.0					19																	3977868		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Z11692	CCDS12117.1	19p13.3	2012-09-20			ENSG00000167658	ENSG00000167658			3214	protein-coding gene	gene with protein product	"""polypeptidyl-tRNA translocase"""	130610		EF2		2610926, 6427766	Standard	NM_001961		Approved	EEF-2	uc002lze.3	P13639		ENST00000309311.6:c.2016C>G	19.37:g.3977868G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RMP5|D6W618|Q58J86	Silent	SNP	pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFG/EF2_IV,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Elongation_fac_G/III/V,smart_Transl_elong_EFG/EF2_IV,smart_Transl_elong_EFG/EF2_C,prints_ProtSyn_GTP-bd,tigrfam_Small_GTP-bd_dom	p.L672	ENST00000309311.6	37	c.2016	CCDS12117.1	19																																																																																			EEF2	-	pfam_Transl_elong_EFG/EF2_IV,superfamily_Ribosomal_S5_D2-typ_fold,smart_Transl_elong_EFG/EF2_IV	ENSG00000167658		0.627	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF2	HGNC	protein_coding	OTTHUMT00000457615.2	40	0.00	0	G	NM_001961		3977868	3977868	-1	no_errors	ENST00000309311	ensembl	human	known	69_37n	silent	21	34.38	11	SNP	0.992	C
EEPD1	80820	genome.wustl.edu	37	7	36338800	36338800	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:36338800C>G	ENST00000242108.4	+	8	2413	c.1695C>G	c.(1693-1695)atC>atG	p.I565M	EEPD1_ENST00000534978.1_Missense_Mutation_p.I565M	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	565					DNA repair (GO:0006281)		DNA binding (GO:0003677)			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						AAGCCAACATCAAGCACGAGC	0.597																																						dbGAP											0													85.0	71.0	76.0					7																	36338800		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK027386	CCDS34619.1	7p14.2	2007-12-07	2007-12-07		ENSG00000122547	ENSG00000122547			22223	protein-coding gene	gene with protein product							Standard	NM_030636		Approved	KIAA1706	uc003tfa.3	Q7L9B9	OTTHUMG00000154904	ENST00000242108.4:c.1695C>G	7.37:g.36338800C>G	ENSP00000242108:p.Ile565Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96K64|Q9C0F7	Missense_Mutation	SNP	pfam_HhH_motif,pfam_Endo/exonuclease/phosphatase,pfam_GspK,superfamily_Endo/exonuclease/phosphatase,superfamily_RuvA_2-like,smart_Hlx-hairpin-Hlx_DNA-bd_motif,tigrfam_Competence_ComEA_HhH	p.I565M	ENST00000242108.4	37	c.1695	CCDS34619.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.47|13.47	2.245867|2.245867	0.39697|0.39697	.|.	.|.	ENSG00000122547|ENSG00000122547	ENST00000242108;ENST00000534978|ENST00000444777	T;T|.	0.23147|.	1.92;1.92|.	5.3|5.3	-5.9|-5.9	0.02275|0.02275	Endonuclease/exonuclease/phosphatase (1);|.	0.448373|.	0.24206|.	N|.	0.040569|.	T|T	0.18257|0.18257	0.0438|0.0438	N|N	0.19112|0.19112	0.55|0.55	0.21579|0.21579	N|N	0.999639|0.999639	B|.	0.26400|.	0.148|.	B|.	0.18263|.	0.021|.	T|T	0.27938|0.27938	-1.0059|-1.0059	10|5	0.62326|.	D|.	0.03|.	-4.0112|-4.0112	5.371|5.371	0.16140|0.16140	0.0852:0.3729:0.0852:0.4567|0.0852:0.3729:0.0852:0.4567	.|.	565|.	Q7L9B9|.	EEPD1_HUMAN|.	M|E	565|30	ENSP00000242108:I565M;ENSP00000442692:I565M|.	ENSP00000242108:I565M|.	I|Q	+|+	3|1	3|0	EEPD1|EEPD1	36305325|36305325	0.000000|0.000000	0.05858|0.05858	0.387000|0.387000	0.26183|0.26183	0.996000|0.996000	0.88848|0.88848	-1.538000|-1.538000	0.02204|0.02204	-1.368000|-1.368000	0.02149|0.02149	0.561000|0.561000	0.74099|0.74099	ATC|CAA	EEPD1	-	superfamily_Endo/exonuclease/phosphatase	ENSG00000122547		0.597	EEPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEPD1	HGNC	protein_coding	OTTHUMT00000337602.1	40	0.00	0	C	NM_030636		36338800	36338800	+1	no_errors	ENST00000242108	ensembl	human	known	69_37n	missense	32	20.00	8	SNP	0.100	G
EFCAB1	79645	genome.wustl.edu	37	8	49647713	49647713	+	5'UTR	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:49647713C>G	ENST00000262103.3	-	0	78				EFCAB1_ENST00000521002.1_5'UTR|EFCAB1_ENST00000433756.1_5'UTR|EFCAB1_ENST00000523092.1_5'UTR	NM_024593.3	NP_078869.1	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1								calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				CGGTTCATGTCTGGCGCTCAG	0.622																																						dbGAP											0													128.0	121.0	124.0					8																	49647713		2203	4300	6503	-	-	-	SO:0001623	5_prime_UTR_variant	0				CCDS6145.1, CCDS47853.1	8q11.21	2013-01-10			ENSG00000034239	ENSG00000034239		"""EF-hand domain containing"""	25678	protein-coding gene	gene with protein product						12477932	Standard	NM_024593		Approved	FLJ11767	uc003xqo.2	Q9HAE3	OTTHUMG00000164203	ENST00000262103.3:c.-3G>C	8.37:g.49647713C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DSB4|E7EVN7	RNA	SNP	-	NULL	ENST00000262103.3	37	NULL	CCDS6145.1	8																																																																																			EFCAB1	-	-	ENSG00000034239		0.622	EFCAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB1	HGNC	protein_coding	OTTHUMT00000377778.1	126	0.00	0	C	NM_024593		49647713	49647713	-1	no_errors	ENST00000521002	ensembl	human	known	69_37n	rna	85	24.11	27	SNP	0.004	G
EFCAB13	124989	genome.wustl.edu	37	17	45421527	45421527	+	Splice_Site	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:45421527G>C	ENST00000331493.2	+	7	714		c.e7-1		ITGB3_ENST00000435993.2_Splice_Site|EFCAB13_ENST00000517484.1_Splice_Site|ITGB3_ENST00000560629.1_Splice_Site	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13							cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)										TTTGGCTCTAGATTATCCCTC	0.398																																						dbGAP											0													131.0	120.0	124.0					17																	45421527		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852		"""EF-hand domain containing"""	26864	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 57"""	C17orf57			Standard	NM_152347		Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.304-1G>C	17.37:g.45421527G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	G3V128|Q49AG9	Splice_Site	SNP	-	e4-1	ENST00000331493.2	37	c.304-1	CCDS11512.1	17	.	.	.	.	.	.	.	.	.	.	G	10.51	1.369480	0.24771	.	.	ENSG00000178852	ENST00000331493;ENST00000517484;ENST00000344176	.	.	.	3.19	3.19	0.36642	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.151	0.42794	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C17orf57	42776526	0.927000	0.31430	0.436000	0.26797	0.037000	0.13140	3.363000	0.52321	2.084000	0.62774	0.585000	0.79938	.	EFCAB13	-	-	ENSG00000178852		0.398	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EFCAB13	HGNC	protein_coding	OTTHUMT00000380147.4	90	0.00	0	G	NM_152347	Intron	45421527	45421527	+1	no_errors	ENST00000331493	ensembl	human	known	69_37n	splice_site	118	14.49	20	SNP	0.533	C
EFCAB13	124989	genome.wustl.edu	37	17	45438865	45438865	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:45438865G>A	ENST00000331493.2	+	10	1194	c.783G>A	c.(781-783)gtG>gtA	p.V261V	EFCAB13_ENST00000517484.1_Intron	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	261						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)										TAGAAGAAGTGACAAAACATA	0.318																																						dbGAP											0													152.0	149.0	150.0					17																	45438865		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852		"""EF-hand domain containing"""	26864	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 57"""	C17orf57			Standard	NM_152347		Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.783G>A	17.37:g.45438865G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	G3V128|Q49AG9	Silent	SNP	NULL	p.V261	ENST00000331493.2	37	c.783	CCDS11512.1	17																																																																																			EFCAB13	-	NULL	ENSG00000178852		0.318	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EFCAB13	HGNC	protein_coding	OTTHUMT00000380147.4	165	0.60	1	G	NM_152347		45438865	45438865	+1	no_errors	ENST00000331493	ensembl	human	known	69_37n	silent	201	13.36	31	SNP	0.541	A
EFCAB13	124989	genome.wustl.edu	37	17	45507260	45507260	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:45507260G>C	ENST00000331493.2	+	24	2982	c.2571G>C	c.(2569-2571)ttG>ttC	p.L857F	EFCAB13_ENST00000517484.1_Missense_Mutation_p.L761F	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	857						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)										AGACATTATTGATGGACAAGG	0.378																																						dbGAP											0													215.0	183.0	194.0					17																	45507260		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852		"""EF-hand domain containing"""	26864	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 57"""	C17orf57			Standard	NM_152347		Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.2571G>C	17.37:g.45507260G>C	ENSP00000332111:p.Leu857Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	G3V128|Q49AG9	Missense_Mutation	SNP	NULL	p.L857F	ENST00000331493.2	37	c.2571	CCDS11512.1	17	.	.	.	.	.	.	.	.	.	.	.	13.07	2.127580	0.37533	.	.	ENSG00000178852	ENST00000331493;ENST00000517484	T;D	0.83992	1.66;-1.79	2.63	0.596	0.17496	.	0.000000	0.29376	N	0.012322	T	0.81365	0.4807	L	0.27053	0.805	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	T	0.69555	-0.5114	10	0.87932	D	0	-5.2699	4.8991	0.13766	0.3046:0.0:0.6954:0.0	.	857;761	Q8IY85;G3V128	CQ057_HUMAN;.	F	857;761	ENSP00000332111:L857F;ENSP00000430048:L761F	ENSP00000332111:L857F	L	+	3	2	C17orf57	42862259	0.013000	0.17824	0.004000	0.12327	0.275000	0.26752	0.463000	0.21972	0.202000	0.20498	-0.701000	0.03672	TTG	EFCAB13	-	NULL	ENSG00000178852		0.378	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EFCAB13	HGNC	protein_coding	OTTHUMT00000380147.4	122	0.00	0	G	NM_152347		45507260	45507260	+1	no_errors	ENST00000331493	ensembl	human	known	69_37n	missense	254	11.81	34	SNP	0.005	C
EFCAB5	374786	genome.wustl.edu	37	17	28296215	28296215	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:28296215G>C	ENST00000394835.3	+	4	789	c.597G>C	c.(595-597)ttG>ttC	p.L199F	EFCAB5_ENST00000378738.3_Missense_Mutation_p.L199F|EFCAB5_ENST00000320856.5_Missense_Mutation_p.L199F|EFCAB5_ENST00000534836.2_Intron|EFCAB5_ENST00000541045.1_Intron|EFCAB5_ENST00000394832.2_Missense_Mutation_p.L199F|EFCAB5_ENST00000536908.2_Missense_Mutation_p.L143F	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	199							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						AGAAGGTTTTGACAGAAGCTG	0.348																																						dbGAP											0													48.0	49.0	49.0					17																	28296215		1825	4086	5911	-	-	-	SO:0001583	missense	0			AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.597G>C	17.37:g.28296215G>C	ENSP00000378312:p.Leu199Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	pfscan_EF_HAND_2	p.L199F	ENST00000394835.3	37	c.597	CCDS11254.2	17	.	.	.	.	.	.	.	.	.	.	G	11.44	1.638250	0.29157	.	.	ENSG00000176927	ENST00000536908;ENST00000394835;ENST00000320856;ENST00000394832;ENST00000378738;ENST00000423598;ENST00000419434	T;T;T;T;T;T	0.29142	1.61;2.64;2.62;1.92;1.58;1.88	4.67	-0.412	0.12367	.	.	.	.	.	T	0.22820	0.0551	L	0.43152	1.355	0.09310	N	1	B;B;B;B	0.27679	0.185;0.073;0.169;0.169	B;B;B;B	0.29716	0.106;0.064;0.091;0.091	T	0.32877	-0.9890	9	0.66056	D	0.02	0.9864	3.4104	0.07356	0.3236:0.0:0.2913:0.3851	.	143;199;199;199	F5GYL2;B5MEA3;E7EVS9;A4FU69	.;.;.;EFCB5_HUMAN	F	143;199;199;199;199;143;5	ENSP00000440619:L143F;ENSP00000378312:L199F;ENSP00000322003:L199F;ENSP00000378309:L199F;ENSP00000368012:L199F;ENSP00000417009:L5F	ENSP00000322003:L199F	L	+	3	2	EFCAB5	25320341	0.002000	0.14202	0.015000	0.15790	0.922000	0.55478	-0.271000	0.08572	0.149000	0.19098	0.561000	0.74099	TTG	EFCAB5	-	NULL	ENSG00000176927		0.348	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB5	HGNC	protein_coding	OTTHUMT00000256120.4	36	0.00	0	G	NM_198529		28296215	28296215	+1	no_errors	ENST00000394835	ensembl	human	known	69_37n	missense	30	21.05	8	SNP	0.017	C
EFCAB5	374786	genome.wustl.edu	37	17	28419858	28419858	+	Splice_Site	SNP	T	T	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:28419858T>G	ENST00000394835.3	+	22	4417	c.4225T>G	c.(4225-4227)Tat>Gat	p.Y1409D	RP11-1148O4.2_ENST00000582938.1_RNA|EFCAB5_ENST00000320856.5_Splice_Site_p.Y1285D|EFCAB5_ENST00000394832.2_Intron	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1409							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TTGTTCACAGTATGTTAACAA	0.328																																						dbGAP											0													110.0	103.0	105.0					17																	28419858		1847	4095	5942	-	-	-	SO:0001630	splice_region_variant	0			AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.4225-1T>G	17.37:g.28419858T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	pfscan_EF_HAND_2	p.Y1409D	ENST00000394835.3	37	c.4225	CCDS11254.2	17	.	.	.	.	.	.	.	.	.	.	T	12.76	2.035466	0.35893	.	.	ENSG00000176927	ENST00000394835;ENST00000320856;ENST00000419434	T;T;T	0.09911	2.93;2.95;2.95	5.61	-0.768	0.11013	.	0.948299	0.08830	N	0.887445	T	0.13798	0.0334	L	0.60455	1.87	0.80722	D	1	D;D	0.53151	0.958;0.958	P;P	0.47981	0.563;0.563	T	0.43718	-0.9374	9	.	.	.	-1.6834	5.3167	0.15860	0.3166:0.4425:0.0:0.2409	.	1285;1409	E7EVS9;A4FU69	.;EFCB5_HUMAN	D	1409;1285;1091	ENSP00000378312:Y1409D;ENSP00000322003:Y1285D;ENSP00000417009:Y1091D	.	Y	+	1	0	EFCAB5	25443984	0.588000	0.26799	0.401000	0.26359	0.179000	0.23085	0.221000	0.17680	0.118000	0.18165	0.533000	0.62120	TAT	EFCAB5	-	NULL	ENSG00000176927		0.328	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB5	HGNC	protein_coding	OTTHUMT00000256120.4	115	0.00	0	T	NM_198529	Missense_Mutation	28419858	28419858	+1	no_errors	ENST00000394835	ensembl	human	known	69_37n	missense	162	18.18	36	SNP	0.064	G
EFCAB3	146779	genome.wustl.edu	37	17	60451218	60451218	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:60451218G>A	ENST00000450662.2	+	2	149	c.78G>A	c.(76-78)aaG>aaA	p.K26K		NM_001144933.1	NP_001138405.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	0							calcium ion binding (GO:0005509)			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			AGGGCCTGAAGAAGTTTAAAC	0.259																																						dbGAP											0													37.0	32.0	34.0					17																	60451218		692	1580	2272	-	-	-	SO:0001819	synonymous_variant	0			AK098684	CCDS11632.1, CCDS45751.1	17q23.3	2013-01-10			ENSG00000172421	ENSG00000172421		"""EF-hand domain containing"""	26379	protein-coding gene	gene with protein product						12477932	Standard	NM_173503		Approved	FLJ25818	uc010wpc.2	Q8N7B9	OTTHUMG00000179175	ENST00000450662.2:c.78G>A	17.37:g.60451218G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	J3KQM8	Silent	SNP	pfscan_EF_HAND_2	p.K26	ENST00000450662.2	37	c.78	CCDS45751.1	17																																																																																			EFCAB3	-	NULL	ENSG00000172421		0.259	EFCAB3-002	KNOWN	basic|CCDS	protein_coding	EFCAB3	HGNC	protein_coding	OTTHUMT00000379315.1	59	0.00	0	G	NM_173503		60451218	60451218	+1	no_errors	ENST00000450662	ensembl	human	known	69_37n	silent	51	17.74	11	SNP	0.999	A
EFCAB7	84455	genome.wustl.edu	37	1	64011715	64011715	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:64011715G>C	ENST00000371088.4	+	7	1179	c.933G>C	c.(931-933)ctG>ctC	p.L311L	DLEU2L_ENST00000340052.3_5'Flank|DLEU2L_ENST00000371086.2_5'Flank	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	311							calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						CATTAAACCTGAGTCAAGTTG	0.333																																						dbGAP											0													97.0	98.0	98.0					1																	64011715		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC015814	CCDS30737.1	1p31.3	2013-01-10			ENSG00000203965	ENSG00000203965		"""EF-hand domain containing"""	29379	protein-coding gene	gene with protein product						11347906	Standard	NM_032437		Approved	KIAA1799, RP4-534K7.1	uc001dbf.3	A8K855	OTTHUMG00000008983	ENST00000371088.4:c.933G>C	1.37:g.64011715G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q658P0|Q96B95|Q96JM6	Silent	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.L311	ENST00000371088.4	37	c.933	CCDS30737.1	1																																																																																			EFCAB7	-	NULL	ENSG00000203965		0.333	EFCAB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB7	HGNC	protein_coding	OTTHUMT00000024910.1	100	0.00	0	G	NM_032437		64011715	64011715	+1	no_errors	ENST00000371088	ensembl	human	known	69_37n	silent	38	43.28	29	SNP	1.000	C
EFHC2	80258	genome.wustl.edu	37	X	44101449	44101449	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:44101449C>G	ENST00000420999.1	-	8	1281	c.1198G>C	c.(1198-1200)Gaa>Caa	p.E400Q		NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	400							calcium ion binding (GO:0005509)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						GAATCCTCTTCAGAACCAAAA	0.433																																						dbGAP											0													121.0	105.0	110.0					X																	44101449		1882	4088	5970	-	-	-	SO:0001583	missense	0			AK026254	CCDS55405.1	Xp11	2014-01-31			ENSG00000183690	ENSG00000183690		"""EF-hand domain containing"""	26233	protein-coding gene	gene with protein product		300817	"""mental retardation, X-linked 74"""	MRX74		17221867	Standard	NM_025184		Approved	FLJ22843	uc004dgb.4	Q5JST6	OTTHUMG00000021393	ENST00000420999.1:c.1198G>C	X.37:g.44101449C>G	ENSP00000404232:p.Glu400Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JST8|Q68DK4|Q8NEI0|Q9H653	Missense_Mutation	SNP	pfam_DUF1126,smart_Uncharacterised_DM10,pfscan_EF_HAND_2	p.E400Q	ENST00000420999.1	37	c.1198	CCDS55405.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.4|24.4	4.530158|4.530158	0.85706|0.85706	.|.	.|.	ENSG00000183690|ENSG00000183690	ENST00000333807;ENST00000420999;ENST00000378056|ENST00000441230	T;T|.	0.71103|.	-0.53;-0.54|.	5.9|5.9	5.9|5.9	0.94986|0.94986	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.84768|.	0.5545|.	M|M	0.88906|0.88906	2.99|2.99	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.79108|.	0.992|.	D|.	0.86558|.	0.1839|.	10|.	0.34782|.	T|.	0.22|.	-31.3454|-31.3454	19.2302|19.2302	0.93834|0.93834	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	400|.	Q5JST6|.	EFHC2_HUMAN|.	Q|S	400;428;204|380	ENSP00000333823:E400Q;ENSP00000404232:E428Q|.	ENSP00000333823:E400Q|.	E|X	-|-	1|2	0|2	EFHC2|EFHC2	43986393|43986393	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	6.917000|6.917000	0.75782|0.75782	2.493000|2.493000	0.84123|0.84123	0.600000|0.600000	0.82982|0.82982	GAA|TGA	EFHC2	-	NULL	ENSG00000183690		0.433	EFHC2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	EFHC2	HGNC	protein_coding	OTTHUMT00000056312.2	148	0.00	0	C	NM_025184		44101449	44101449	-1	no_errors	ENST00000333807	ensembl	human	known	69_37n	missense	142	21.55	39	SNP	1.000	G
EFNA4	1945	genome.wustl.edu	37	1	155041530	155041530	+	3'UTR	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:155041530G>C	ENST00000368409.3	+	0	764				EFNA4_ENST00000427683.2_Missense_Mutation_p.G169R|EFNA3_ENST00000505139.1_Intron|EFNA3_ENST00000556931.1_Intron|EFNA4_ENST00000359751.4_Missense_Mutation_p.E175D	NM_005227.2	NP_005218.1	P52798	EFNA4_HUMAN	ephrin-A4						axon guidance (GO:0007411)|bone remodeling (GO:0046849)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|osteoclast differentiation (GO:0030316)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|transmembrane-ephrin receptor activity (GO:0005005)			breast(1)|endometrium(1)|large_intestine(1)|ovary(1)	4	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)			TGGAGGAGGAGGGATCCCTGC	0.572																																						dbGAP											0													89.0	97.0	94.0					1																	155041530		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			AJ006352	CCDS1089.1, CCDS41407.1, CCDS44237.1	1q21-q22	2011-03-09			ENSG00000243364	ENSG00000243364		"""Ephrins"""	3224	protein-coding gene	gene with protein product		601380		EPLG4		8660976	Standard	NM_182690		Approved	LERK4		P52798	OTTHUMG00000035309	ENST00000368409.3:c.*65G>C	1.37:g.155041530G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JHJ8|G3XAK2|O95457|Q5SR71|Q6FI57	Missense_Mutation	SNP	pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin	p.G169R	ENST00000368409.3	37	c.505	CCDS1089.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.75|13.75	2.328945|2.328945	0.41197|0.41197	.|.	.|.	ENSG00000243364|ENSG00000243364	ENST00000359751|ENST00000427683	D|D	0.92911|0.94232	-3.13|-3.38	4.74|4.74	-3.94|-3.94	0.04130|0.04130	.|.	.|.	.|.	.|.	.|.	T|T	0.62684|0.62684	0.2448|0.2448	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B|B	0.06786|0.11235	0.001|0.004	B|B	0.14578|0.08055	0.011|0.003	T|T	0.59413|0.59413	-0.7459|-0.7459	8|8	0.16896|0.11182	T|T	0.51|0.66	-25.9483|-25.9483	1.1612|1.1612	0.01806|0.01806	0.3652:0.2558:0.2475:0.1315|0.3652:0.2558:0.2475:0.1315	.|.	175|169	P52798-2|G3XAK2	.|.	D|R	175|169	ENSP00000352789:E175D|ENSP00000414378:G169R	ENSP00000352789:E175D|ENSP00000414378:G169R	E|G	+|+	3|1	2|0	EFNA4|EFNA4	153308154|153308154	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.390000|0.390000	0.30446|0.30446	-1.150000|-1.150000	0.03178|0.03178	-0.686000|-0.686000	0.05170|0.05170	0.609000|0.609000	0.83330|0.83330	GAG|GGG	EFNA4	-	NULL	ENSG00000243364		0.572	EFNA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	EFNA4	HGNC	protein_coding	OTTHUMT00000085421.2	79	0.00	0	G	NM_005227		155041530	155041530	+1	no_errors	ENST00000427683	ensembl	human	known	69_37n	missense	85	19.63	21	SNP	0.000	C
EFNA3	1944	genome.wustl.edu	37	1	155058903	155058903	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:155058903G>C	ENST00000368408.3	+	5	671	c.601G>C	c.(601-603)Gag>Cag	p.E201Q	EFNA3_ENST00000418360.2_Missense_Mutation_p.E175Q|EFNA3_ENST00000498667.1_3'UTR|EFNA3_ENST00000505139.1_Missense_Mutation_p.E196Q|EFNA3_ENST00000556931.1_Missense_Mutation_p.E196Q	NM_004952.4	NP_004943.1	P52797	EFNA3_HUMAN	ephrin-A3	201					axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|transmembrane-ephrin receptor activity (GO:0005005)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		all cancers(21;5.67e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000284)|LUSC - Lung squamous cell carcinoma(543;0.193)			CTTTGAGGGAGAGAACCCTCA	0.632											OREG0013850	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													84.0	79.0	81.0					1																	155058903		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC017722	CCDS1090.1	1q21-q22	2011-03-09			ENSG00000143590	ENSG00000143590		"""Ephrins"""	3223	protein-coding gene	gene with protein product		601381		EPLG3		8660976	Standard	NM_004952		Approved	LERK3, Ehk1-L	uc001fhf.3	P52797	OTTHUMG00000035313	ENST00000368408.3:c.601G>C	1.37:g.155058903G>C	ENSP00000357393:p.Glu201Gln	Somatic	220	WXS	Illumina GAIIx	Phase_IV	B7ZAD3|D3DV85|Q0VGC9|Q5SR70	Missense_Mutation	SNP	pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin	p.E201Q	ENST00000368408.3	37	c.601	CCDS1090.1	1	.	.	.	.	.	.	.	.	.	.	G	9.386	1.074257	0.20227	.	.	ENSG00000143590;ENSG00000143590;ENSG00000143590;ENSG00000251246	ENST00000556931;ENST00000368408;ENST00000418360;ENST00000505139	D;D;D;D	0.96011	-3.33;-3.29;-3.88;-3.33	4.34	3.43	0.39272	.	0.756645	0.12557	N	0.458486	T	0.81442	0.4823	N	0.08118	0	0.28014	N	0.934802	P;P;B	0.51791	0.948;0.791;0.013	B;B;B	0.43783	0.431;0.43;0.017	T	0.76046	-0.3102	10	0.33940	T	0.23	-9.2812	6.8378	0.23945	0.2094:0.0:0.7906:0.0	.	175;196;201	B7ZAD3;B4DXG7;P52797	.;.;EFNA3_HUMAN	Q	196;201;175;196	ENSP00000450814:E196Q;ENSP00000357393:E201Q;ENSP00000391370:E175Q;ENSP00000426741:E196Q	ENSP00000357393:E201Q	E	+	1	0	RP11-540D14.8;EFNA3	153325527	1.000000	0.71417	0.994000	0.49952	0.082000	0.17680	4.082000	0.57635	1.172000	0.42781	-0.379000	0.06801	GAG	EFNA3	-	NULL	ENSG00000143590		0.632	EFNA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EFNA3	HGNC	protein_coding	OTTHUMT00000085429.1	35	0.00	0	G	NM_004952		155058903	155058903	+1	no_errors	ENST00000368408	ensembl	human	known	69_37n	missense	46	22.03	13	SNP	0.998	C
EFTUD2	9343	genome.wustl.edu	37	17	42932315	42932315	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:42932315C>G	ENST00000426333.2	-	21	2400	c.2103G>C	c.(2101-2103)gaG>gaC	p.E701D	EFTUD2_ENST00000591382.1_Missense_Mutation_p.E701D|EFTUD2_ENST00000592576.1_Missense_Mutation_p.E691D|EFTUD2_ENST00000402521.3_Missense_Mutation_p.E666D	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	701					gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				CCACCTCATTCTCTATGTCCT	0.527																																					Ovarian(10;65 485 10258 29980 30707)	dbGAP											0													175.0	142.0	153.0					17																	42932315		2203	4300	6503	-	-	-	SO:0001583	missense	0			D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 116 kD"""	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.2103G>C	17.37:g.42932315C>G	ENSP00000392094:p.Glu701Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Missense_Mutation	SNP	pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFG/EF2_IV,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Elongation_fac_G/III/V,smart_Transl_elong_EFG/EF2_IV,smart_Transl_elong_EFG/EF2_C,prints_ProtSyn_GTP-bd,tigrfam_Small_GTP-bd_dom	p.E701D	ENST00000426333.2	37	c.2103	CCDS11489.1	17	.	.	.	.	.	.	.	.	.	.	C	17.37	3.371305	0.61624	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	T;T	0.35048	1.33;1.33	5.65	1.56	0.23342	Ribosomal protein S5 domain 2-type fold (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.53642	0.1809	M	0.75884	2.315	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.47560	-0.9108	10	0.33940	T	0.23	-17.1645	9.7814	0.40651	0.0:0.6056:0.0:0.3944	.	691;701	B4DMC0;Q15029	.;U5S1_HUMAN	D	701;691;666	ENSP00000392094:E701D;ENSP00000385873:E666D	ENSP00000262414:E691D	E	-	3	2	EFTUD2	40287841	1.000000	0.71417	0.990000	0.47175	0.992000	0.81027	1.698000	0.37794	0.199000	0.20427	-0.119000	0.15052	GAG	EFTUD2	-	superfamily_Ribosomal_S5_D2-typ_fold	ENSG00000108883		0.527	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EFTUD2	HGNC	protein_coding	OTTHUMT00000448672.1	100	0.00	0	C	NM_004247		42932315	42932315	-1	no_errors	ENST00000426333	ensembl	human	known	69_37n	missense	54	37.93	33	SNP	1.000	G
EGF	1950	genome.wustl.edu	37	4	110866276	110866276	+	Nonsense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:110866276C>G	ENST00000265171.5	+	5	1230	c.785C>G	c.(784-786)tCa>tGa	p.S262*	EGF_ENST00000503392.1_Nonsense_Mutation_p.S262*|EGF_ENST00000509793.1_Nonsense_Mutation_p.S262*	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	262					activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	ATCTTCTATTCAACATGGAAA	0.363																																						dbGAP											0													114.0	96.0	102.0					4																	110866276		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.785C>G	4.37:g.110866276C>G	ENSP00000265171:p.Ser262*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Nonsense_Mutation	SNP	pirsf_Pro-epidermal_GF,pfam_LDLR_classB_rpt,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,smart_LDLR_classB_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt	p.S262*	ENST00000265171.5	37	c.785	CCDS3689.1	4	.	.	.	.	.	.	.	.	.	.	C	34	5.379652	0.95945	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	.	.	.	5.39	5.39	0.77823	.	0.125819	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	19.1711	0.93578	0.0:1.0:0.0:0.0	.	.	.	.	X	262	.	ENSP00000265171:S262X	S	+	2	0	EGF	111085725	1.000000	0.71417	0.976000	0.42696	0.353000	0.29299	3.754000	0.55189	2.525000	0.85131	0.655000	0.94253	TCA	EGF	-	pirsf_Pro-epidermal_GF	ENSG00000138798		0.363	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EGF	HGNC	protein_coding	OTTHUMT00000255065.1	118	0.00	0	C			110866276	110866276	+1	no_errors	ENST00000265171	ensembl	human	known	69_37n	nonsense	96	25.58	33	SNP	1.000	G
EGFR	1956	genome.wustl.edu	37	7	55269464	55269464	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:55269464G>A	ENST00000275493.2	+	26	3328	c.3151G>A	c.(3151-3153)Gat>Aat	p.D1051N	EGFR_ENST00000455089.1_Missense_Mutation_p.D1006N|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.D998N	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	1051					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)	GGCTTGCATTGATAGAAATGG	0.393		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												dbGAP	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													153.0	144.0	147.0					7																	55269464		2203	4300	6503	-	-	-	SO:0001583	missense	0	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.3151G>A	7.37:g.55269464G>A	ENSP00000275493:p.Asp1051Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	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.D1051N	ENST00000275493.2	37	c.3151	CCDS5514.1	7	.	.	.	.	.	.	.	.	.	.	G	0.294	-0.978309	0.02197	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	T;T;T	0.73789	-0.78;-0.76;-0.77	6.06	1.88	0.25563	.	0.756501	0.13521	N	0.381681	T	0.53302	0.1788	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.31024	-0.9958	10	0.13853	T	0.58	.	4.7414	0.13013	0.3677:0.1477:0.4845:0.0	.	1006;1051	Q504U8;P00533	.;EGFR_HUMAN	N	1006;921;1051;998	ENSP00000415559:D1006N;ENSP00000275493:D1051N;ENSP00000395243:D998N	ENSP00000275493:D1051N	D	+	1	0	EGFR	55236958	0.733000	0.28132	0.000000	0.03702	0.027000	0.11550	2.174000	0.42482	0.042000	0.15717	-0.142000	0.14014	GAT	EGFR	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt	ENSG00000146648		0.393	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGFR	HGNC	protein_coding	OTTHUMT00000251456.2	106	0.00	0	G	NM_005228		55269464	55269464	+1	no_errors	ENST00000275493	ensembl	human	known	69_37n	missense	68	23.60	21	SNP	0.010	A
EHD4	30844	genome.wustl.edu	37	15	42193119	42193119	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:42193119G>C	ENST00000220325.4	-	6	1433	c.1350C>G	c.(1348-1350)gtC>gtG	p.V450V	RP11-23P13.6_ENST00000564432.2_RNA	NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	450	EH. {ECO:0000255|PROSITE- ProRule:PRU00077}.				cellular response to growth factor stimulus (GO:0071363)|endocytic recycling (GO:0032456)|pinocytosis (GO:0006907)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein homooligomerization (GO:0051260)|regulation of endocytosis (GO:0030100)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		GCTCGTCGTAGACGGGCTTGT	0.612																																						dbGAP											0													79.0	67.0	71.0					15																	42193119		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AF181265	CCDS10081.1	15q11.1	2013-01-10			ENSG00000103966	ENSG00000103966		"""EF-hand domain containing"""	3245	protein-coding gene	gene with protein product		605892		PAST4		10673336, 11533061	Standard	NM_139265		Approved		uc001zot.3	Q9H223	OTTHUMG00000130370	ENST00000220325.4:c.1350C>G	15.37:g.42193119G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9HAR1|Q9NZN2	Silent	SNP	pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology	p.V450	ENST00000220325.4	37	c.1350	CCDS10081.1	15																																																																																			EHD4	-	smart_EPS15_homology,pfscan_EPS15_homology	ENSG00000103966		0.612	EHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHD4	HGNC	protein_coding	OTTHUMT00000252737.2	34	0.00	0	G	NM_139265		42193119	42193119	-1	no_errors	ENST00000220325	ensembl	human	known	69_37n	silent	36	21.74	10	SNP	0.964	C
EHD4	30844	genome.wustl.edu	37	15	42202044	42202044	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:42202044G>A	ENST00000220325.4	-	5	1025	c.942C>T	c.(940-942)atC>atT	p.I314I		NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	314					cellular response to growth factor stimulus (GO:0071363)|endocytic recycling (GO:0032456)|pinocytosis (GO:0006907)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein homooligomerization (GO:0051260)|regulation of endocytosis (GO:0030100)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		TCAGGTAGCTGATGATGTAGG	0.443																																						dbGAP											0													190.0	168.0	176.0					15																	42202044		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AF181265	CCDS10081.1	15q11.1	2013-01-10			ENSG00000103966	ENSG00000103966		"""EF-hand domain containing"""	3245	protein-coding gene	gene with protein product		605892		PAST4		10673336, 11533061	Standard	NM_139265		Approved		uc001zot.3	Q9H223	OTTHUMG00000130370	ENST00000220325.4:c.942C>T	15.37:g.42202044G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9HAR1|Q9NZN2	Silent	SNP	pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology	p.I314	ENST00000220325.4	37	c.942	CCDS10081.1	15																																																																																			EHD4	-	NULL	ENSG00000103966		0.443	EHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHD4	HGNC	protein_coding	OTTHUMT00000252737.2	147	0.00	0	G	NM_139265		42202044	42202044	-1	no_errors	ENST00000220325	ensembl	human	known	69_37n	silent	128	26.01	45	SNP	1.000	A
EHHADH	1962	genome.wustl.edu	37	3	184910076	184910076	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:184910076G>C	ENST00000231887.3	-	7	2185	c.2110C>G	c.(2110-2112)Cag>Gag	p.Q704E	EHHADH_ENST00000456310.1_Missense_Mutation_p.Q608E|EHHADH-AS1_ENST00000417720.1_RNA	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	704					fatty acid beta-oxidation (GO:0006635)|internal protein amino acid acetylation (GO:0006475)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|coenzyme binding (GO:0050662)|dodecenoyl-CoA delta-isomerase activity (GO:0004165)|enoyl-CoA hydratase activity (GO:0004300)|enzyme binding (GO:0019899)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)			GGGTTTCCCTGAGAAGCCAGT	0.463																																						dbGAP											0													72.0	78.0	76.0					3																	184910076		2203	4300	6503	-	-	-	SO:0001583	missense	0			L07077	CCDS33901.1, CCDS54694.1	3q26.3-q28	2012-07-13	2010-04-30		ENSG00000113790	ENSG00000113790	4.2.1.17, 1.1.1.35, 5.3.3.8		3247	protein-coding gene	gene with protein product		607037	"""enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase"""	ECHD		8188243	Standard	NM_001966		Approved		uc003fpf.3	Q08426	OTTHUMG00000156698	ENST00000231887.3:c.2110C>G	3.37:g.184910076G>C	ENSP00000231887:p.Gln704Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6Y3|B4DWG3|D3DNU0|Q58EZ5	Missense_Mutation	SNP	pfam_Crotonase_core,pfam_3-OHacyl-CoA_DH_NAD-bd,pfam_3HC_DH_C,superfamily_6-PGluconate_DH_C-like	p.Q704E	ENST00000231887.3	37	c.2110	CCDS33901.1	3	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.615943	0.00828	.	.	ENSG00000113790	ENST00000231887;ENST00000456310	D;D	0.81821	-1.54;-1.54	5.91	3.18	0.36537	3-hydroxyacyl-CoA dehydrogenase, C-terminal (1);Dehydrogenase, multihelical (1);6-phosphogluconate dehydrogenase, C-terminal-like (1);	0.412335	0.26684	N	0.023022	T	0.53012	0.1770	N	0.04959	-0.14	0.24058	N	0.996023	B	0.19200	0.034	B	0.15870	0.014	T	0.44034	-0.9354	10	0.02654	T	1	-0.4454	6.1508	0.20310	0.2602:0.2161:0.5237:0.0	.	704	Q08426	ECHP_HUMAN	E	704;608	ENSP00000231887:Q704E;ENSP00000387746:Q608E	ENSP00000231887:Q704E	Q	-	1	0	EHHADH	186392770	0.005000	0.15991	0.739000	0.30968	0.812000	0.45895	0.032000	0.13732	0.410000	0.25675	0.655000	0.94253	CAG	EHHADH	-	pfam_3HC_DH_C,superfamily_6-PGluconate_DH_C-like	ENSG00000113790		0.463	EHHADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHHADH	HGNC	protein_coding	OTTHUMT00000345326.1	60	0.00	0	G			184910076	184910076	-1	no_errors	ENST00000231887	ensembl	human	known	69_37n	missense	45	23.33	14	SNP	0.102	C
EHMT1	79813	genome.wustl.edu	37	9	140637876	140637876	+	Missense_Mutation	SNP	A	A	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:140637876A>G	ENST00000460843.1	+	5	904	c.877A>G	c.(877-879)Atg>Gtg	p.M293V	EHMT1_ENST00000462484.1_Missense_Mutation_p.M293V|EHMT1_ENST00000334856.6_Missense_Mutation_p.M262V|EHMT1_ENST00000371394.2_3'UTR	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	293					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)		AAAACGAAGAATGGGAACCTA	0.373																																						dbGAP											0													70.0	68.0	69.0					9																	140637876		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.877A>G	9.37:g.140637876A>G	ENSP00000417980:p.Met293Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Missense_Mutation	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.M293V	ENST00000460843.1	37	c.877	CCDS7050.2	9	.	.	.	.	.	.	.	.	.	.	A	19.92	3.915560	0.73098	.	.	ENSG00000181090	ENST00000334856;ENST00000371400;ENST00000462484;ENST00000460843	T;T;T	0.46819	0.86;0.86;0.86	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.67552	0.2905	M	0.69823	2.125	0.52501	D	0.999955	P;D;D	0.67145	0.891;0.986;0.996	P;D;D	0.77557	0.867;0.974;0.99	T	0.69621	-0.5096	10	0.51188	T	0.08	.	15.4558	0.75311	1.0:0.0:0.0:0.0	.	293;262;293	Q9H9B1;Q9H9B1-2;Q9H9B1-4	EHMT1_HUMAN;.;.	V	262;262;293;293	ENSP00000334476:M262V;ENSP00000417328:M293V;ENSP00000417980:M293V	ENSP00000334476:M262V	M	+	1	0	EHMT1	139757697	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.685000	0.84117	2.053000	0.61076	0.459000	0.35465	ATG	EHMT1	-	NULL	ENSG00000181090		0.373	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHMT1	HGNC	protein_coding	OTTHUMT00000055371.2	49	0.00	0	A	NM_024757		140637876	140637876	+1	no_errors	ENST00000460843	ensembl	human	known	69_37n	missense	40	20.00	10	SNP	1.000	G
EIF2AK2	5610	genome.wustl.edu	37	2	37374076	37374076	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:37374076C>T	ENST00000233057.4	-	4	482	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K	EIF2AK2_ENST00000395127.2_Missense_Mutation_p.E54K|EIF2AK2_ENST00000405334.1_Missense_Mutation_p.E54K	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2	54	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.				activation of MAPKK activity (GO:0000186)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|evasion or tolerance by virus of host immune response (GO:0030683)|innate immune response (GO:0045087)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production (GO:0001819)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of hematopoietic progenitor cell differentiation (GO:1901532)|regulation of hematopoietic stem cell differentiation (GO:1902036)|regulation of hematopoietic stem cell proliferation (GO:1902033)|regulation of NLRP3 inflammasome complex assembly (GO:1900225)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|viral life cycle (GO:0019058)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				CCTTCACCTTCTGGAAATTCT	0.323																																						dbGAP											0													110.0	103.0	105.0					2																	37374076		2203	4299	6502	-	-	-	SO:0001583	missense	0			BC057805	CCDS1786.1, CCDS46259.1	2p22-p21	2014-06-12	2005-01-19	2005-01-19	ENSG00000055332	ENSG00000055332			9437	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 83"""	176871	"""protein kinase, interferon-inducible double stranded RNA dependent"""	PRKR		1351683	Standard	NM_001135651		Approved	PKR, EIF2AK1, PPP1R83	uc010fac.3	P19525	OTTHUMG00000100962	ENST00000233057.4:c.160G>A	2.37:g.37374076C>T	ENSP00000233057:p.Glu54Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3P0|D6W584|E9PC80|Q52M43|Q7Z6F6|Q9UIR4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ds-RNA-bd,superfamily_Kinase-like_dom,smart_Ds-RNA-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ds-RNA-bd,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E54K	ENST00000233057.4	37	c.160	CCDS1786.1	2	.	.	.	.	.	.	.	.	.	.	C	11.85	1.762110	0.31228	.	.	ENSG00000055332	ENST00000233057;ENST00000395127;ENST00000405334;ENST00000379156;ENST00000411537;ENST00000390013	T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02	5.54	-1.28	0.09318	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.827161	0.10756	N	0.637709	T	0.70029	0.3177	L	0.39898	1.24	0.29551	N	0.851354	P;P;P;P	0.50369	0.934;0.934;0.934;0.738	B;P;P;B	0.47705	0.379;0.555;0.555;0.427	T	0.63554	-0.6611	10	0.46703	T	0.11	-4.5419	5.7895	0.18353	0.0:0.35:0.3977:0.2523	.	54;54;54;54	Q8IW76;B7ZKK7;P19525;E9PC80	.;.;E2AK2_HUMAN;.	K	54	ENSP00000233057:E54K;ENSP00000378559:E54K;ENSP00000385014:E54K;ENSP00000393921:E54K;ENSP00000374663:E54K	ENSP00000233057:E54K	E	-	1	0	EIF2AK2	37227580	0.035000	0.19736	0.434000	0.26772	0.047000	0.14425	-0.860000	0.04272	-0.610000	0.05716	-0.181000	0.13052	GAA	EIF2AK2	-	pfam_Ds-RNA-bd,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd	ENSG00000055332		0.323	EIF2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2AK2	HGNC	protein_coding	OTTHUMT00000218571.2	199	0.00	0	C	NM_002759		37374076	37374076	-1	no_errors	ENST00000233057	ensembl	human	known	69_37n	missense	134	23.86	42	SNP	0.445	T
EIF2AK2	5610	genome.wustl.edu	37	2	37374920	37374920	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:37374920G>C	ENST00000233057.4	-	3	352	c.30C>G	c.(28-30)ttC>ttG	p.F10L	EIF2AK2_ENST00000395127.2_Missense_Mutation_p.F10L|EIF2AK2_ENST00000405334.1_Missense_Mutation_p.F10L	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2	10	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.				activation of MAPKK activity (GO:0000186)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|evasion or tolerance by virus of host immune response (GO:0030683)|innate immune response (GO:0045087)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production (GO:0001819)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of hematopoietic progenitor cell differentiation (GO:1901532)|regulation of hematopoietic stem cell differentiation (GO:1902036)|regulation of hematopoietic stem cell proliferation (GO:1902033)|regulation of NLRP3 inflammasome complex assembly (GO:1900225)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|viral life cycle (GO:0019058)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				GTTCCTCCATGAAGAAACCTG	0.408																																						dbGAP											0													120.0	122.0	121.0					2																	37374920		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC057805	CCDS1786.1, CCDS46259.1	2p22-p21	2014-06-12	2005-01-19	2005-01-19	ENSG00000055332	ENSG00000055332			9437	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 83"""	176871	"""protein kinase, interferon-inducible double stranded RNA dependent"""	PRKR		1351683	Standard	NM_001135651		Approved	PKR, EIF2AK1, PPP1R83	uc010fac.3	P19525	OTTHUMG00000100962	ENST00000233057.4:c.30C>G	2.37:g.37374920G>C	ENSP00000233057:p.Phe10Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3P0|D6W584|E9PC80|Q52M43|Q7Z6F6|Q9UIR4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ds-RNA-bd,superfamily_Kinase-like_dom,smart_Ds-RNA-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ds-RNA-bd,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.F10L	ENST00000233057.4	37	c.30	CCDS1786.1	2	.	.	.	.	.	.	.	.	.	.	G	12.28	1.891427	0.33442	.	.	ENSG00000055332	ENST00000233057;ENST00000395127;ENST00000405334;ENST00000379156;ENST00000411537;ENST00000390013	T;T;T	0.75821	-0.92;-0.92;-0.97	5.32	3.44	0.39384	Double-stranded RNA-binding (2);Double-stranded RNA-binding-like (1);	1.104310	0.06985	N	0.820667	T	0.74435	0.3716	M	0.80616	2.505	0.09310	N	1	P;P;P;P	0.45078	0.85;0.761;0.761;0.761	B;B;B;B	0.39339	0.217;0.297;0.297;0.154	T	0.64588	-0.6372	10	0.56958	D	0.05	-3.7122	6.9993	0.24801	0.2106:0.0:0.7894:0.0	.	10;10;10;10	Q8IW76;B7ZKK7;P19525;E9PC80	.;.;E2AK2_HUMAN;.	L	10	ENSP00000233057:F10L;ENSP00000378559:F10L;ENSP00000385014:F10L	ENSP00000233057:F10L	F	-	3	2	EIF2AK2	37228424	0.001000	0.12720	0.514000	0.27761	0.309000	0.27889	0.464000	0.21988	1.312000	0.45043	0.650000	0.86243	TTC	EIF2AK2	-	smart_Ds-RNA-bd,pfscan_Ds-RNA-bd	ENSG00000055332		0.408	EIF2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2AK2	HGNC	protein_coding	OTTHUMT00000218571.2	114	0.00	0	G	NM_002759		37374920	37374920	-1	no_errors	ENST00000233057	ensembl	human	known	69_37n	missense	86	25.22	29	SNP	0.015	C
EIF2AK4	440275	genome.wustl.edu	37	15	40301923	40301923	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:40301923G>A	ENST00000263791.5	+	26	3728	c.3685G>A	c.(3685-3687)Gat>Aat	p.D1229N	EIF2AK4_ENST00000382727.2_Missense_Mutation_p.D1201N	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	1229	Histidyl-tRNA synthetase-like.				cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		TATTCTGTATGATGCTGTGGT	0.318																																						dbGAP											0													95.0	92.0	93.0					15																	40301923		1853	4096	5949	-	-	-	SO:0001583	missense	0			AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.3685G>A	15.37:g.40301923G>A	ENSP00000263791:p.Asp1229Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RWD-domain,superfamily_Kinase-like_dom,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Anticodon-bd,smart_RWD-domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_GCN2,pfscan_RWD-domain,pfscan_Prot_kinase_cat_dom	p.D1229N	ENST00000263791.5	37	c.3685	CCDS42016.1	15	.	.	.	.	.	.	.	.	.	.	G	28.4	4.920927	0.92249	.	.	ENSG00000128829	ENST00000263791;ENST00000382727	T;T	0.40225	1.04;1.04	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.60534	0.2276	L	0.48877	1.53	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.56649	-0.7944	10	0.45353	T	0.12	-23.7004	19.7449	0.96248	0.0:0.0:1.0:0.0	.	1201;1229	Q9P2K8-2;Q9P2K8	.;E2AK4_HUMAN	N	1229;1201	ENSP00000263791:D1229N;ENSP00000372174:D1201N	ENSP00000263791:D1229N	D	+	1	0	EIF2AK4	38089215	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	9.360000	0.97119	2.677000	0.91161	0.591000	0.81541	GAT	EIF2AK4	-	pirsf_Ser/Thr_kinase_GCN2	ENSG00000128829		0.318	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2AK4	HGNC	protein_coding	OTTHUMT00000418395.1	64	0.00	0	G			40301923	40301923	+1	no_errors	ENST00000263791	ensembl	human	known	69_37n	missense	37	24.49	12	SNP	1.000	A
EIF2AK4	440275	genome.wustl.edu	37	15	40308739	40308739	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:40308739G>A	ENST00000263791.5	+	28	3839	c.3796G>A	c.(3796-3798)Gat>Aat	p.D1266N	EIF2AK4_ENST00000382727.2_Missense_Mutation_p.D1238N	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	1266	Histidyl-tRNA synthetase-like.				cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		ACAGAAGGGAGATTTGCAAGA	0.438																																						dbGAP											0													95.0	94.0	94.0					15																	40308739		1991	4188	6179	-	-	-	SO:0001583	missense	0			AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.3796G>A	15.37:g.40308739G>A	ENSP00000263791:p.Asp1266Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RWD-domain,superfamily_Kinase-like_dom,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Anticodon-bd,smart_RWD-domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_GCN2,pfscan_RWD-domain,pfscan_Prot_kinase_cat_dom	p.D1266N	ENST00000263791.5	37	c.3796	CCDS42016.1	15	.	.	.	.	.	.	.	.	.	.	G	15.49	2.848953	0.51164	.	.	ENSG00000128829	ENST00000263791;ENST00000382727	T;T	0.32753	1.44;1.44	5.52	5.52	0.82312	.	0.377612	0.30800	N	0.008856	T	0.26521	0.0648	L	0.28274	0.84	0.41774	D	0.989787	B	0.06786	0.001	B	0.14023	0.01	T	0.03112	-1.1071	10	0.31617	T	0.26	-10.9864	19.8178	0.96578	0.0:0.0:1.0:0.0	.	1266	Q9P2K8	E2AK4_HUMAN	N	1266;1238	ENSP00000263791:D1266N;ENSP00000372174:D1238N	ENSP00000263791:D1266N	D	+	1	0	EIF2AK4	38096031	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.445000	0.66594	2.751000	0.94390	0.643000	0.83706	GAT	EIF2AK4	-	pirsf_Ser/Thr_kinase_GCN2	ENSG00000128829		0.438	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2AK4	HGNC	protein_coding	OTTHUMT00000418395.1	70	0.00	0	G			40308739	40308739	+1	no_errors	ENST00000263791	ensembl	human	known	69_37n	missense	42	23.64	13	SNP	1.000	A
AGO1	26523	genome.wustl.edu	37	1	36372656	36372656	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:36372656C>G	ENST00000373204.4	+	12	1731	c.1518C>G	c.(1516-1518)ctC>ctG	p.L506L	AGO1_ENST00000373206.1_Silent_p.L431L	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	506					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										TCCGGCATCTCAAGAACACCT	0.522																																						dbGAP											0													132.0	106.0	115.0					1																	36372656		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"""Argonaute/PIWI family"""	3262	protein-coding gene	gene with protein product	"""argonaute 1"""	606228	"""eukaryotic translation initiation factor 2C, 1"""	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.1518C>G	1.37:g.36372656C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TA57|Q6P4S0	Silent	SNP	pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.L506	ENST00000373204.4	37	c.1518	CCDS398.1	1																																																																																			EIF2C1	-	superfamily_RNaseH-like_dom	ENSG00000092847		0.522	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2C1	HGNC	protein_coding	OTTHUMT00000019337.3	85	0.00	0	C			36372656	36372656	+1	no_errors	ENST00000373204	ensembl	human	known	69_37n	silent	64	23.81	20	SNP	1.000	G
AGO1	26523	genome.wustl.edu	37	1	36379798	36379798	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:36379798C>G	ENST00000373204.4	+	14	1969	c.1756C>G	c.(1756-1758)Caa>Gaa	p.Q586E	AGO1_ENST00000373206.1_Missense_Mutation_p.Q511E	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	586	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.Q586E(1)									TGCCGTTTTTCAACAGCCAGT	0.517																																						dbGAP											1	Substitution - Missense(1)	urinary_tract(1)											103.0	97.0	99.0					1																	36379798		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"""Argonaute/PIWI family"""	3262	protein-coding gene	gene with protein product	"""argonaute 1"""	606228	"""eukaryotic translation initiation factor 2C, 1"""	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.1756C>G	1.37:g.36379798C>G	ENSP00000362300:p.Gln586Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TA57|Q6P4S0	Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.Q586E	ENST00000373204.4	37	c.1756	CCDS398.1	1	.	.	.	.	.	.	.	.	.	.	C	12.20	1.866063	0.32977	.	.	ENSG00000092847	ENST00000373206;ENST00000373204	T;T	0.08807	3.05;3.05	5.36	5.36	0.76844	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.08133	0.0203	N	0.17800	0.525	0.80722	D	1	B	0.21753	0.06	B	0.22152	0.038	T	0.34403	-0.9830	10	0.35671	T	0.21	-23.1933	19.4429	0.94831	0.0:1.0:0.0:0.0	.	586	Q9UL18	AGO1_HUMAN	E	511;586	ENSP00000362302:Q511E;ENSP00000362300:Q586E	ENSP00000362300:Q586E	Q	+	1	0	EIF2C1	36152385	1.000000	0.71417	1.000000	0.80357	0.143000	0.21401	7.776000	0.85560	2.669000	0.90835	0.655000	0.94253	CAA	EIF2C1	-	pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi	ENSG00000092847		0.517	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2C1	HGNC	protein_coding	OTTHUMT00000019337.3	73	0.00	0	C			36379798	36379798	+1	no_errors	ENST00000373204	ensembl	human	known	69_37n	missense	69	16.87	14	SNP	1.000	G
AGO3	192669	genome.wustl.edu	37	1	36474555	36474555	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:36474555C>T	ENST00000373191.4	+	8	1288	c.939C>T	c.(937-939)ttC>ttT	p.F313F	RP4-665N4.8_ENST00000479395.2_RNA|RP4-665N4.8_ENST00000466576.2_RNA|AGO3_ENST00000246314.6_Silent_p.F79F	NM_024852.3	NP_079128.2	Q9H9G7	AGO3_HUMAN	argonaute RISC catalytic component 3	313	PAZ. {ECO:0000255|HAMAP-Rule:MF_03032}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of stem cell proliferation (GO:0072091)	cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)										CGCAGTATTTCAGAGAAAAGT	0.443																																						dbGAP											0													76.0	79.0	78.0					1																	36474555		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB046787	CCDS399.1, CCDS400.1	1p34	2013-06-03	2013-02-15	2013-02-15	ENSG00000126070	ENSG00000126070		"""Argonaute/PIWI family"""	18421	protein-coding gene	gene with protein product	"""argonaute 3"""	607355	"""eukaryotic translation initiation factor 2C, 3"""	EIF2C3		12906857	Standard	NM_024852		Approved	hAGO3, FLJ12765	uc001bzp.3	Q9H9G7	OTTHUMG00000184172	ENST00000373191.4:c.939C>T	1.37:g.36474555C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B1ALI0|Q5TA55|Q9H1U6	Silent	SNP	pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.F313	ENST00000373191.4	37	c.939	CCDS399.1	1																																																																																			EIF2C3	-	pfam_PAZ,superfamily_PAZ,smart_PAZ,pfscan_PAZ	ENSG00000126070		0.443	AGO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2C3	HGNC	protein_coding	OTTHUMT00000019831.4	65	0.00	0	C	NM_024852		36474555	36474555	+1	no_errors	ENST00000373191	ensembl	human	known	69_37n	silent	45	32.84	22	SNP	1.000	T
EIF2B3	8891	genome.wustl.edu	37	1	45444133	45444133	+	Splice_Site	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:45444133C>T	ENST00000360403.2	-	3	275		c.e3-1		EIF2B3_ENST00000480675.1_Splice_Site|EIF2B3_ENST00000372183.3_Splice_Site	NM_001261418.1|NM_020365.4	NP_001248347.1|NP_065098.1	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa						cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|positive regulation of GTPase activity (GO:0043547)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	guanyl-nucleotide exchange factor activity (GO:0005085)|nucleotidyltransferase activity (GO:0016779)|translation initiation factor activity (GO:0003743)			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17	Acute lymphoblastic leukemia(166;0.155)					ACAATGACTTCTATAGGACAA	0.333																																					Colon(26;357 658 2581 11857 12657)	dbGAP											0													152.0	157.0	156.0					1																	45444133		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF257077	CCDS517.1, CCDS53313.1, CCDS72775.1	1p34.1	2008-02-05	2002-08-29		ENSG00000070785	ENSG00000070785			3259	protein-coding gene	gene with protein product		606273	"""eukaryotic translation initiation factor 2B, subunit 3 (gamma, 58kD)"""			10900014	Standard	NM_020365		Approved	EIF2Bgamma, EIF-2B	uc001cmt.3	Q9NR50	OTTHUMG00000008585	ENST00000360403.2:c.149-1G>A	1.37:g.45444133C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBH8|D3DPZ2|Q5QP89|Q5QP90|Q8NDB5|Q8WV57|Q9H850	Splice_Site	SNP	-	e2-1	ENST00000360403.2	37	c.149-1	CCDS517.1	1	.	.	.	.	.	.	.	.	.	.	C	19.13	3.768788	0.69878	.	.	ENSG00000070785	ENST00000360403;ENST00000372183;ENST00000372182	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.945	0.92618	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EIF2B3	45216720	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	6.837000	0.75354	2.767000	0.95098	0.557000	0.71058	.	EIF2B3	-	-	ENSG00000070785		0.333	EIF2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2B3	HGNC	protein_coding	OTTHUMT00000023724.1	143	0.00	0	C	NM_020365	Intron	45444133	45444133	-1	no_errors	ENST00000360403	ensembl	human	known	69_37n	splice_site	105	20.45	27	SNP	1.000	T
EIF3K	27335	genome.wustl.edu	37	19	39123118	39123118	+	Missense_Mutation	SNP	G	G	C	rs372914594		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:39123118G>C	ENST00000538434.1	+	4	377	c.142G>C	c.(142-144)Gaa>Caa	p.E48Q	EIF3K_ENST00000545173.2_Missense_Mutation_p.E135Q|EIF3K_ENST00000248342.4_Missense_Mutation_p.E135Q|EIF3K_ENST00000593149.1_Missense_Mutation_p.E48Q|EIF3K_ENST00000592558.1_Missense_Mutation_p.E135Q|EIF3K_ENST00000588934.1_Intron					eukaryotic translation initiation factor 3, subunit K										EIF3K/CYP39A1(2)	central_nervous_system(1)|endometrium(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AACTGGCTTTGAAGACTCTGT	0.502																																						dbGAP											0													118.0	119.0	119.0					19																	39123118		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB019392	CCDS12517.1, CCDS74360.1	19q13.2	2012-05-28	2007-07-27	2007-07-27	ENSG00000178982	ENSG00000178982			24656	protein-coding gene	gene with protein product		609596	"""eukaryotic translation initiation factor 3, subunit 12"""	EIF3S12		11042152, 14519125	Standard	XM_006723147		Approved	eIF3k, PRO1474, HSPC029, PTD001, PLAC-24, M9, ARG134	uc002oiz.1	Q9UBQ5		ENST00000538434.1:c.142G>C	19.37:g.39123118G>C	ENSP00000440999:p.Glu48Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_COP9_signalosome_subunit_CSN8,pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25,superfamily_ARM-type_fold	p.E135Q	ENST00000538434.1	37	c.403		19	.	.	.	.	.	.	.	.	.	.	G	22.0	4.235995	0.79800	.	.	ENSG00000178982	ENST00000248342;ENST00000538434;ENST00000545173	.	.	.	5.39	5.39	0.77823	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.77994	0.4214	M	0.64676	1.99	0.80722	D	1	D;P;P	0.89917	1.0;0.803;0.803	D;B;B	0.85130	0.997;0.359;0.268	T	0.79465	-0.1792	9	0.87932	D	0	-14.3717	18.2945	0.90140	0.0:0.0:1.0:0.0	.	48;135;135	B4DQ48;B7ZAM9;Q9UBQ5	.;.;EIF3K_HUMAN	Q	135;48;135	.	ENSP00000248342:E135Q	E	+	1	0	EIF3K	43814958	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	8.803000	0.91915	2.688000	0.91661	0.563000	0.77884	GAA	EIF3K	-	pfam_COP9_signalosome_subunit_CSN8,pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25	ENSG00000178982		0.502	EIF3K-002	PUTATIVE	basic|exp_conf	protein_coding	EIF3K	HGNC	protein_coding	OTTHUMT00000453409.1	99	0.00	0	G	NM_013234		39123118	39123118	+1	no_errors	ENST00000248342	ensembl	human	known	69_37n	missense	81	24.30	26	SNP	1.000	C
EIF3L	51386	genome.wustl.edu	37	22	38247340	38247340	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:38247340C>G	ENST00000412331.2	+	3	718	c.136C>G	c.(136-138)Cag>Gag	p.Q46E	ANKRD54_ENST00000609454.1_5'Flank|EIF3L_ENST00000381683.6_Missense_Mutation_p.Q46E|EIF3L_ENST00000476955.1_3'UTR|EIF3L_ENST00000406934.1_5'UTR	NM_016091.3	NP_057175.1			eukaryotic translation initiation factor 3, subunit L											kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GCAAACCTATCAGGTGATCCC	0.428																																						dbGAP											0													84.0	76.0	78.0					22																	38247340		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF083243	CCDS13960.1, CCDS56230.1	22q	2012-12-20	2009-01-07	2009-01-07	ENSG00000100129	ENSG00000100129			18138	protein-coding gene	gene with protein product			"""eukaryotic translation initiation factor 3, subunit 6 interacting protein"", ""eukaryotic translation initiation factor 3, subunit E interacting protein"""	EIF3S6IP, EIF3EIP		11042152, 11590142	Standard	NM_016091		Approved	HSPC021, HSPC025, EIF3S11	uc003auf.3	Q9Y262	OTTHUMG00000150671	ENST00000412331.2:c.136C>G	22.37:g.38247340C>G	ENSP00000416892:p.Gln46Glu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_TIF3_suL	p.Q89E	ENST00000412331.2	37	c.265	CCDS13960.1	22	.	.	.	.	.	.	.	.	.	.	C	13.96	2.392619	0.42410	.	.	ENSG00000100129	ENST00000412331;ENST00000425539;ENST00000414316;ENST00000381683;ENST00000262832;ENST00000451427	T;T	0.40756	1.02;1.03	5.18	5.18	0.71444	.	0.147947	0.64402	D	0.000008	T	0.22975	0.0555	N	0.03608	-0.345	0.41751	D	0.989661	B;B;B	0.25007	0.003;0.007;0.116	B;B;B	0.18263	0.001;0.009;0.021	T	0.08953	-1.0697	10	0.20046	T	0.44	-21.4493	19.0502	0.93039	0.0:1.0:0.0:0.0	.	46;46;89	B4DYB2;Q9Y262;B0QY89	.;EIF3L_HUMAN;.	E	46;89;63;46;46;22	ENSP00000416892:Q46E;ENSP00000371099:Q46E	ENSP00000262832:Q46E	Q	+	1	0	EIF3L	36577286	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.330000	0.59266	2.560000	0.86352	0.561000	0.74099	CAG	EIF3L	-	NULL	ENSG00000100129		0.428	EIF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF3L	HGNC	protein_coding	OTTHUMT00000319551.2	60	0.00	0	C	NM_016091		38247340	38247340	+1	no_errors	ENST00000425539	ensembl	human	known	69_37n	missense	104	13.33	16	SNP	1.000	G
EIF3L	51386	genome.wustl.edu	37	22	38259032	38259032	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:38259032C>T	ENST00000412331.2	+	6	1074	c.492C>T	c.(490-492)ttC>ttT	p.F164F	EIF3L_ENST00000381683.6_Intron|EIF3L_ENST00000476955.1_Intron|EIF3L_ENST00000406934.1_Silent_p.F66F	NM_016091.3	NP_057175.1			eukaryotic translation initiation factor 3, subunit L											kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GCAATCTCTTCAACTACATTC	0.368																																						dbGAP											0													87.0	86.0	87.0					22																	38259032		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF083243	CCDS13960.1, CCDS56230.1	22q	2012-12-20	2009-01-07	2009-01-07	ENSG00000100129	ENSG00000100129			18138	protein-coding gene	gene with protein product			"""eukaryotic translation initiation factor 3, subunit 6 interacting protein"", ""eukaryotic translation initiation factor 3, subunit E interacting protein"""	EIF3S6IP, EIF3EIP		11042152, 11590142	Standard	NM_016091		Approved	HSPC021, HSPC025, EIF3S11	uc003auf.3	Q9Y262	OTTHUMG00000150671	ENST00000412331.2:c.492C>T	22.37:g.38259032C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_TIF3_suL	p.F207	ENST00000412331.2	37	c.621	CCDS13960.1	22																																																																																			EIF3L	-	pfam_TIF3_suL	ENSG00000100129		0.368	EIF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF3L	HGNC	protein_coding	OTTHUMT00000319551.2	116	0.00	0	C	NM_016091		38259032	38259032	+1	no_errors	ENST00000425539	ensembl	human	known	69_37n	silent	130	29.35	54	SNP	1.000	T
EIF4A2	1974	genome.wustl.edu	37	3	186506941	186506941	+	Missense_Mutation	SNP	G	G	T	rs35354328		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:186506941G>T	ENST00000323963.5	+	11	1171	c.1107G>T	c.(1105-1107)agG>agT	p.R369S	EIF4A2_ENST00000440191.2_Missense_Mutation_p.R370S|SNORA63_ENST00000363450.1_RNA|EIF4A2_ENST00000356531.5_Missense_Mutation_p.R274S|SNORA81_ENST00000408493.2_RNA|SNORA4_ENST00000584302.1_RNA|SNORA63_ENST00000363548.1_RNA			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	369	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		GATTTGGGAGGAAAGGTGTGG	0.403			T	BCL6	NHL																																	dbGAP		Dom	yes		3	3q27.3	1974	"""eukaryotic translation initiation factor 4A, isoform 2"""		L	0													153.0	161.0	158.0					3																	186506941		2203	4300	6503	-	-	-	SO:0001583	missense	0			D30655	CCDS3282.1	3q28	2012-02-23	2010-02-10		ENSG00000156976	ENSG00000156976	3.6.1.1	"""DEAD-boxes"""	3284	protein-coding gene	gene with protein product		601102	"""eukaryotic translation initiation factor 4A, isoform 2"""	EIF4F		8521730	Standard	NM_001967		Approved	DDX2B, EIF4A, BM-010	uc003fqs.3	Q14240	OTTHUMG00000156564	ENST00000323963.5:c.1107G>T	3.37:g.186506941G>T	ENSP00000326381:p.Arg369Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DNU9|Q53XJ6|Q96B90|Q96EA8	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.R370S	ENST00000323963.5	37	c.1110	CCDS3282.1	3	.	.	.	.	.	.	.	.	.	.	G	12.62	1.993354	0.35131	.	.	ENSG00000156976	ENST00000323963;ENST00000440191;ENST00000356531	T;T;T	0.36699	1.52;1.52;1.24	5.87	5.87	0.94306	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.46560	0.1399	M	0.73319	2.225	0.80722	D	1	B;P;P	0.38300	0.056;0.626;0.492	B;P;B	0.45794	0.033;0.493;0.298	T	0.46965	-0.9153	10	0.87932	D	0	-11.8531	11.3604	0.49640	0.082:0.0:0.918:0.0	.	274;370;369	Q9NZE6;Q14240-2;Q14240	.;.;IF4A2_HUMAN	S	369;370;274	ENSP00000326381:R369S;ENSP00000398370:R370S;ENSP00000348925:R274S	ENSP00000326381:R369S	R	+	3	2	EIF4A2	187989635	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.928000	0.48908	2.941000	0.99782	0.655000	0.94253	AGG	EIF4A2	-	pfscan_Helicase_C	ENSG00000156976		0.403	EIF4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF4A2	HGNC	protein_coding	OTTHUMT00000344609.1	111	0.00	0	G	NM_001967		186506941	186506941	+1	no_errors	ENST00000440191	ensembl	human	known	69_37n	missense	79	19.39	19	SNP	1.000	T
EIF4ENIF1	56478	genome.wustl.edu	37	22	31838963	31838963	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:31838963G>C	ENST00000397525.1	-	16	2414	c.2191C>G	c.(2191-2193)Cag>Gag	p.Q731E	EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.Q707E|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.Q557E|EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.Q386E|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.Q731E	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	731						cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTGGCCTTCTGAGTATCCTCT	0.488																																						dbGAP											0													182.0	161.0	168.0					22																	31838963		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.2191C>G	22.37:g.31838963G>C	ENSP00000380659:p.Gln731Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Missense_Mutation	SNP	pfam_eIF4E_transporter	p.Q731E	ENST00000397525.1	37	c.2191	CCDS13898.1	22	.	.	.	.	.	.	.	.	.	.	G	4.026	0.002390	0.07819	.	.	ENSG00000184708	ENST00000344710;ENST00000397525;ENST00000330125;ENST00000397523;ENST00000382180	.	.	.	5.77	4.74	0.60224	.	0.679559	0.16360	N	0.217815	T	0.36441	0.0967	L	0.47716	1.5	0.26149	N	0.980175	B;B;B;B	0.25609	0.002;0.13;0.005;0.001	B;B;B;B	0.21151	0.006;0.033;0.012;0.002	T	0.31024	-0.9958	9	0.02654	T	1	-0.3868	13.6819	0.62491	0.0739:0.0:0.9261:0.0	.	557;731;556;707	B1AKL3;Q9NRA8;Q9NRA8-2;B1AKL4	.;4ET_HUMAN;.;.	E	557;731;731;707;386	.	ENSP00000328103:Q731E	Q	-	1	0	EIF4ENIF1	30168963	0.998000	0.40836	0.915000	0.36163	0.101000	0.19017	4.797000	0.62503	2.884000	0.98904	0.655000	0.94253	CAG	EIF4ENIF1	-	NULL	ENSG00000184708		0.488	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF4ENIF1	HGNC	protein_coding	OTTHUMT00000127926.1	144	0.00	0	G	NM_019843		31838963	31838963	-1	no_errors	ENST00000330125	ensembl	human	known	69_37n	missense	179	26.03	63	SNP	0.617	C
EIF4ENIF1	56478	genome.wustl.edu	37	22	31859053	31859053	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:31859053C>T	ENST00000397525.1	-	6	875	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K	RP11-247I13.11_ENST00000464523.1_RNA|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.E218K|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.E218K|RP11-247I13.8_ENST00000439588.1_RNA|RP11-247I13.11_ENST00000483736.1_RNA|EIF4ENIF1_ENST00000344710.5_Intron	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	218						cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CACTCTGGTTCTTCTTCTGTG	0.393																																						dbGAP											0													113.0	97.0	103.0					22																	31859053		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.652G>A	22.37:g.31859053C>T	ENSP00000380659:p.Glu218Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Missense_Mutation	SNP	pfam_eIF4E_transporter	p.E218K	ENST00000397525.1	37	c.652	CCDS13898.1	22	.	.	.	.	.	.	.	.	.	.	C	36	5.685579	0.96784	.	.	ENSG00000184708	ENST00000397525;ENST00000330125;ENST00000397523;ENST00000420671	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.80121	0.4565	M	0.74647	2.275	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.80910	-0.1171	9	0.72032	D	0.01	-19.7649	18.7679	0.91880	0.0:1.0:0.0:0.0	.	218	Q9NRA8	4ET_HUMAN	K	218	.	ENSP00000328103:E218K	E	-	1	0	EIF4ENIF1	30189053	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.220000	0.78008	2.857000	0.98124	0.650000	0.86243	GAA	EIF4ENIF1	-	pfam_eIF4E_transporter	ENSG00000184708		0.393	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF4ENIF1	HGNC	protein_coding	OTTHUMT00000127926.1	103	0.00	0	C	NM_019843		31859053	31859053	-1	no_errors	ENST00000330125	ensembl	human	known	69_37n	missense	141	29.85	60	SNP	1.000	T
EIF4G3	8672	genome.wustl.edu	37	1	21268047	21268047	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:21268047C>A	ENST00000264211.8	-	8	1626	c.1432G>T	c.(1432-1434)Gat>Tat	p.D478Y	EIF4G3_ENST00000374933.3_5'Flank|EIF4G3_ENST00000374927.4_Missense_Mutation_p.D478Y|EIF4G3_ENST00000602326.1_Missense_Mutation_p.D484Y|EIF4G3_ENST00000374937.3_Missense_Mutation_p.D484Y|EIF4G3_ENST00000400422.1_Missense_Mutation_p.D478Y|EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000356916.3_Missense_Mutation_p.D489Y|EIF4G3_ENST00000544689.1_5'UTR|EIF4G3_ENST00000536266.1_Missense_Mutation_p.D82Y	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	478					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		GTTTGCCCATCTGCTTCTACC	0.438																																						dbGAP											0													230.0	233.0	232.0					1																	21268047		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.1432G>T	1.37:g.21268047C>A	ENSP00000264211:p.Asp478Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain	p.D484Y	ENST00000264211.8	37	c.1450	CCDS214.1	1	.	.	.	.	.	.	.	.	.	.	C	19.35	3.810757	0.70797	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374937;ENST00000536266;ENST00000356916;ENST00000374927;ENST00000537059	T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98	6.02	6.02	0.97574	.	0.158282	0.56097	D	0.000025	T	0.34745	0.0908	N	0.19112	0.55	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	1.0;0.995;1.0;0.991;1.0;0.98	D;P;D;P;D;P	0.91635	0.999;0.868;0.998;0.875;0.996;0.809	T	0.09930	-1.0652	10	0.66056	D	0.02	-17.9982	18.7276	0.91720	0.0:1.0:0.0:0.0	.	478;673;604;82;484;478	B4DXR2;Q59GJ0;B1AN89;F5H564;B9EGQ7;O43432	.;.;.;.;.;IF4G3_HUMAN	Y	478;674;478;484;82;604;478;489	ENSP00000264211:D478Y;ENSP00000383274:D478Y;ENSP00000364073:D484Y;ENSP00000444693:D82Y;ENSP00000364062:D478Y	ENSP00000264211:D478Y	D	-	1	0	EIF4G3	21140634	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.749000	0.55150	2.850000	0.98022	0.650000	0.86243	GAT	EIF4G3	-	NULL	ENSG00000075151		0.438	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	EIF4G3	HGNC	protein_coding	OTTHUMT00000007467.3	154	0.00	0	C	NM_003760		21268047	21268047	-1	no_errors	ENST00000374937	ensembl	human	known	69_37n	missense	120	24.53	39	SNP	1.000	A
EIF5B	9669	genome.wustl.edu	37	2	100015796	100015796	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:100015796C>G	ENST00000289371.6	+	24	3784	c.3582C>G	c.(3580-3582)ctC>ctG	p.L1194L		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	1194					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TTGATGCACTCAAAGACTGGT	0.458																																					Colon(162;2388 2567 2705 3444)	dbGAP											0													123.0	114.0	117.0					2																	100015796		1939	4152	6091	-	-	-	SO:0001819	synonymous_variant	0			AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"""translation initiation factor IF2"""	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.3582C>G	2.37:g.100015796C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Silent	SNP	pfam_ProtSyn_GTP-bd,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel,superfamily_TIF_IF2_dom3,prints_ProtSyn_GTP-bd,tigrfam_Small_GTP-bd_dom	p.L1194	ENST00000289371.6	37	c.3582	CCDS42721.1	2																																																																																			EIF5B	-	superfamily_Transl_elong_init/rib_B-barrel	ENSG00000158417		0.458	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF5B	HGNC	protein_coding	OTTHUMT00000330364.2	142	0.00	0	C	NM_015904		100015796	100015796	+1	no_errors	ENST00000289371	ensembl	human	known	69_37n	silent	151	17.49	32	SNP	1.000	G
ELAC1	55520	genome.wustl.edu	37	18	48513353	48513353	+	Missense_Mutation	SNP	T	T	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr18:48513353T>A	ENST00000269466.3	+	4	1097	c.990T>A	c.(988-990)gaT>gaA	p.D330E	SMAD4_ENST00000452201.2_Intron|RP11-729L2.2_ENST00000588256.1_Intron|RP11-729L2.2_ENST00000590722.2_Intron	NM_018696.2	NP_061166.1	Q9H777	RNZ1_HUMAN	elaC ribonuclease Z 1	330					tRNA 3'-trailer cleavage (GO:0042779)	cytosol (GO:0005829)|nucleus (GO:0005634)	endoribonuclease activity, producing 5'-phosphomonoesters (GO:0016891)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(4)|prostate(1)	6		Colorectal(6;0.0269)|all_epithelial(6;0.0729)		Colorectal(21;0.000943)|COAD - Colon adenocarcinoma(17;0.0398)|READ - Rectum adenocarcinoma(32;0.0894)|STAD - Stomach adenocarcinoma(97;0.18)		GAGAAACAGATGGCATTGCAG	0.428																																						dbGAP											0													94.0	82.0	86.0					18																	48513353		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB029151	CCDS11949.1	18q21	2013-05-24	2013-05-24		ENSG00000141642	ENSG00000141642	3.1.26.11		14197	protein-coding gene	gene with protein product	"""tRNA Z (short form)"", ""RNaseZ(S)"""	608079	"""elaC (E. coli) homolog 1"", ""elaC homolog 1 (E. coli)"""			12711671, 21559454	Standard	NM_018696		Approved	D29	uc002lez.3	Q9H777	OTTHUMG00000132695	ENST00000269466.3:c.990T>A	18.37:g.48513353T>A	ENSP00000269466:p.Asp330Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NS99	Missense_Mutation	SNP	pfam_Beta-lactamas-like,tigrfam_RNase_Z	p.D330E	ENST00000269466.3	37	c.990	CCDS11949.1	18	.	.	.	.	.	.	.	.	.	.	T	13.12	2.141287	0.37825	.	.	ENSG00000141642	ENST00000269466	T	0.39406	1.08	5.63	1.99	0.26369	.	0.044779	0.85682	D	0.000000	T	0.21387	0.0515	N	0.20986	0.625	0.80722	D	1	B	0.27882	0.192	B	0.22152	0.038	T	0.08994	-1.0695	10	0.07482	T	0.82	.	8.0236	0.30423	0.0:0.3246:0.0:0.6754	.	330	Q9H777	RNZ1_HUMAN	E	330	ENSP00000269466:D330E	ENSP00000269466:D330E	D	+	3	2	ELAC1	46767351	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	1.215000	0.32431	0.106000	0.17784	-0.274000	0.10170	GAT	ELAC1	-	NULL	ENSG00000141642		0.428	ELAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELAC1	HGNC	protein_coding	OTTHUMT00000255992.2	46	0.00	0	T			48513353	48513353	+1	no_errors	ENST00000269466	ensembl	human	known	69_37n	missense	20	35.48	11	SNP	1.000	A
ELAVL1	1994	genome.wustl.edu	37	19	8046016	8046016	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:8046016C>G	ENST00000407627.2	-	3	356	c.227G>C	c.(226-228)aGa>aCa	p.R76T	ELAVL1_ENST00000596459.1_Missense_Mutation_p.R76T|ELAVL1_ENST00000593807.1_Missense_Mutation_p.R76T|ELAVL1_ENST00000351593.5_Missense_Mutation_p.R103T	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	76	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|multicellular organismal development (GO:0007275)|positive regulation of translation (GO:0045727)|regulation of stem cell maintenance (GO:2000036)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|double-stranded RNA binding (GO:0003725)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GTTGATCGCTCTCTCTGCATC	0.527																																						dbGAP											0													220.0	153.0	176.0					19																	8046016		2203	4300	6503	-	-	-	SO:0001583	missense	0			U38175	CCDS12193.1	19p13.2	2013-10-03	2013-10-03			ENSG00000066044		"""RNA binding motif (RRM) containing"""	3312	protein-coding gene	gene with protein product	"""embryonic lethal, abnormal vision, drosophila, homolog-like 1"", ""Hu antigen R"""	603466	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R)"""	HUR		8626503, 9003489	Standard	NM_001419		Approved	HuR, Hua, MelG	uc002mjb.3	Q15717		ENST00000407627.2:c.227G>C	19.37:g.8046016C>G	ENSP00000385269:p.Arg76Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DVB8|Q53XN6|Q9BTT1	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF	p.R103T	ENST00000407627.2	37	c.308	CCDS12193.1	19	.	.	.	.	.	.	.	.	.	.	C	16.95	3.263567	0.59431	.	.	ENSG00000066044	ENST00000407627;ENST00000351593	T;T	0.17054	2.3;2.3	5.78	3.62	0.41486	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.083334	0.85682	D	0.000000	T	0.19604	0.0471	L	0.43923	1.385	0.80722	D	1	P	0.41102	0.738	P	0.45712	0.491	T	0.01252	-1.1405	10	0.87932	D	0	.	9.3391	0.38069	0.0:0.8172:0.0:0.1828	.	76	Q15717	ELAV1_HUMAN	T	76;103	ENSP00000385269:R76T;ENSP00000264073:R103T	ENSP00000264073:R103T	R	-	2	0	ELAVL1	7952016	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.881000	0.48538	0.723000	0.32274	0.655000	0.94253	AGA	ELAVL1	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_ELAD_HUD_SF	ENSG00000066044		0.527	ELAVL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELAVL1	HGNC	protein_coding	OTTHUMT00000461494.3	87	0.00	0	C	NM_001419		8046016	8046016	-1	no_errors	ENST00000351593	ensembl	human	known	69_37n	missense	85	30.89	38	SNP	1.000	G
ELF2	1998	genome.wustl.edu	37	4	139980485	139980485	+	Silent	SNP	C	C	G	rs376710076		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:139980485C>G	ENST00000394235.2	-	10	1900	c.1398G>C	c.(1396-1398)ctG>ctC	p.L466L	ELF2_ENST00000515489.1_Intron|ELF2_ENST00000265495.4_Silent_p.L466L|ELF2_ENST00000358635.3_Silent_p.L418L|ELF2_ENST00000379550.1_Silent_p.L478L|ELF2_ENST00000379549.2_Silent_p.L389L|ELF2_ENST00000510408.1_Silent_p.L406L	NM_001276458.1	NP_001263387.1			E74-like factor 2 (ets domain transcription factor)											endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					CTGATCCAGTCAGATTTGACT	0.443																																						dbGAP											0													83.0	75.0	78.0					4																	139980485		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF256222	CCDS3744.1, CCDS3745.1, CCDS64062.1, CCDS64063.1	4q28	2008-02-05			ENSG00000109381	ENSG00000109381			3317	protein-coding gene	gene with protein product						8756667	Standard	NM_201999		Approved	EU32, NERF, NERF-2, NERF-1A, NERF-1B	uc003ihm.2	Q15723	OTTHUMG00000133383	ENST00000394235.2:c.1398G>C	4.37:g.139980485C>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_TF_Elf_N,pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.L478	ENST00000394235.2	37	c.1434	CCDS3744.1	4																																																																																			ELF2	-	NULL	ENSG00000109381		0.443	ELF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELF2	HGNC	protein_coding	OTTHUMT00000257233.2	93	0.00	0	C	NM_006874		139980485	139980485	-1	no_errors	ENST00000379550	ensembl	human	known	69_37n	silent	83	20.19	21	SNP	0.957	G
ELF4	2000	genome.wustl.edu	37	X	129200908	129200908	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:129200908G>A	ENST00000308167.5	-	9	2159	c.1780C>T	c.(1780-1782)Ctg>Ttg	p.L594L	ELF4_ENST00000335997.7_Silent_p.L594L	NM_001421.3	NP_001412.1			E74-like factor 4 (ets domain transcription factor)											breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						TGGTTGCCCAGAAGGCTCGGA	0.602			T	ERG	AML																																	dbGAP		Dom	yes		X	Xq26	2000	E74-like factor 4 (ets domain transcription factor)		L	0													94.0	100.0	98.0					X																	129200908		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U32645	CCDS14617.1	Xq26	2014-09-17			ENSG00000102034	ENSG00000102034			3319	protein-coding gene	gene with protein product		300775				8895518	Standard	NM_001421		Approved	MEF, ELFR	uc004eve.4	Q99607	OTTHUMG00000022390	ENST00000308167.5:c.1780C>T	X.37:g.129200908G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_TF_Elf_N,pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.L594	ENST00000308167.5	37	c.1780	CCDS14617.1	X																																																																																			ELF4	-	NULL	ENSG00000102034		0.602	ELF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELF4	HGNC	protein_coding	OTTHUMT00000058243.1	23	0.00	0	G	NM_001421		129200908	129200908	-1	no_errors	ENST00000308167	ensembl	human	known	69_37n	silent	31	22.50	9	SNP	0.900	A
ELF4	2000	genome.wustl.edu	37	X	129201241	129201241	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:129201241G>C	ENST00000308167.5	-	9	1826	c.1447C>G	c.(1447-1449)Ctc>Gtc	p.L483V	ELF4_ENST00000335997.7_Missense_Mutation_p.L483V	NM_001421.3	NP_001412.1			E74-like factor 4 (ets domain transcription factor)											breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						AGGCCACTGAGAATCAGTGGA	0.647			T	ERG	AML																																	dbGAP		Dom	yes		X	Xq26	2000	E74-like factor 4 (ets domain transcription factor)		L	0													27.0	30.0	29.0					X																	129201241		2202	4299	6501	-	-	-	SO:0001583	missense	0			U32645	CCDS14617.1	Xq26	2014-09-17			ENSG00000102034	ENSG00000102034			3319	protein-coding gene	gene with protein product		300775				8895518	Standard	NM_001421		Approved	MEF, ELFR	uc004eve.4	Q99607	OTTHUMG00000022390	ENST00000308167.5:c.1447C>G	X.37:g.129201241G>C	ENSP00000311280:p.Leu483Val	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_TF_Elf_N,pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.L483V	ENST00000308167.5	37	c.1447	CCDS14617.1	X	.	.	.	.	.	.	.	.	.	.	g	15.15	2.746998	0.49257	.	.	ENSG00000102034	ENST00000335997;ENST00000308167	T;T	0.22336	1.96;1.96	4.56	4.56	0.56223	.	0.438263	0.18458	N	0.140632	T	0.23289	0.0563	L	0.29908	0.895	0.27365	N	0.955866	D	0.61697	0.99	P	0.51777	0.679	T	0.04029	-1.0983	10	0.41790	T	0.15	.	11.5374	0.50645	0.0:0.0:1.0:0.0	.	483	Q99607	ELF4_HUMAN	V	483	ENSP00000338608:L483V;ENSP00000311280:L483V	ENSP00000311280:L483V	L	-	1	0	ELF4	129028922	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	4.645000	0.61404	2.102000	0.63906	0.509000	0.49947	CTC	ELF4	-	NULL	ENSG00000102034		0.647	ELF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELF4	HGNC	protein_coding	OTTHUMT00000058243.1	33	0.00	0	G	NM_001421		129201241	129201241	-1	no_errors	ENST00000308167	ensembl	human	known	69_37n	missense	20	33.33	10	SNP	1.000	C
ELL3	80237	genome.wustl.edu	37	15	44068711	44068711	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:44068711C>G	ENST00000319359.3	-	2	805	c.164G>C	c.(163-165)cGa>cCa	p.R55P	RP11-296A16.1_ENST00000417761.2_3'UTR|ELL3_ENST00000497465.1_5'Flank|SERF2_ENST00000381359.1_5'Flank	NM_025165.2	NP_079441.1	Q9HB65	ELL3_HUMAN	elongation factor RNA polymerase II-like 3	55					DNA-templated transcription, elongation (GO:0006354)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epithelial to mesenchymal transition (GO:0010717)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	enhancer binding (GO:0035326)			cervix(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)	13		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		ACTTACCCCTCGGTGGCCTTG	0.657											OREG0003939	type=REGULATORY REGION|Gene=ELL3|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										dbGAP											0													120.0	84.0	96.0					15																	44068711		2184	4276	6460	-	-	-	SO:0001583	missense	0			AF276512	CCDS10102.1	15q15.1	2008-02-05			ENSG00000128886	ENSG00000128886			23113	protein-coding gene	gene with protein product		609885				10882741	Standard	NM_025165		Approved	FLJ22637	uc001zsw.1	Q9HB65	OTTHUMG00000059936	ENST00000319359.3:c.164G>C	15.37:g.44068711C>G	ENSP00000320346:p.Arg55Pro	Somatic	921	WXS	Illumina GAIIx	Phase_IV	B3KQ66|B3KX08|Q6I9Z7|Q9H634	Missense_Mutation	SNP	pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL	p.R55P	ENST00000319359.3	37	c.164	CCDS10102.1	15	.	.	.	.	.	.	.	.	.	.	C	24.7	4.560524	0.86335	.	.	ENSG00000128886	ENST00000319359;ENST00000433927	T;T	0.32023	1.47;1.47	4.89	4.89	0.63831	.	0.455087	0.18697	N	0.133716	T	0.55955	0.1953	M	0.76838	2.35	0.34176	D	0.670334	D	0.89917	1.0	D	0.91635	0.999	T	0.67393	-0.5682	10	0.52906	T	0.07	-19.0055	13.4166	0.60972	0.0:1.0:0.0:0.0	.	55	Q9HB65	ELL3_HUMAN	P	55;85	ENSP00000320346:R55P;ENSP00000404209:R85P	ENSP00000320346:R55P	R	-	2	0	ELL3	41856003	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.478000	0.53158	2.546000	0.85860	0.563000	0.77884	CGA	ELL3	-	pfam_RNA_pol_II_elong_fac_ELL	ENSG00000128886		0.657	ELL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELL3	HGNC	protein_coding	OTTHUMT00000133236.2	69	0.00	0	C	NM_025165		44068711	44068711	-1	no_errors	ENST00000319359	ensembl	human	known	69_37n	missense	81	17.35	17	SNP	1.000	G
ELMO1	9844	genome.wustl.edu	37	7	37136305	37136305	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:37136305C>G	ENST00000310758.4	-	15	1866	c.1219G>C	c.(1219-1221)Gac>Cac	p.D407H	ELMO1_ENST00000448602.1_Missense_Mutation_p.D407H|ELMO1_ENST00000341056.3_Missense_Mutation_p.D109H|ELMO1_ENST00000442504.1_Missense_Mutation_p.D407H	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	407	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TCATGCTTGTCTTCTCGACTA	0.413																																						dbGAP											0													177.0	142.0	154.0					7																	37136305		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.1219G>C	7.37:g.37136305C>G	ENSP00000312185:p.Asp407His	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold	p.D407H	ENST00000310758.4	37	c.1219	CCDS5449.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.0|28.0	4.879874|4.879874	0.91740|0.91740	.|.	.|.	ENSG00000155849|ENSG00000155849	ENST00000341056;ENST00000310758;ENST00000361912;ENST00000442504;ENST00000448602|ENST00000433246	T;T;T;T|.	0.32023|.	1.47;1.47;1.47;1.47|.	4.96|4.96	4.96|4.96	0.65561|0.65561	Engulfment/cell motility, ELMO (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75554|0.75554	0.3865|0.3865	M|M	0.71581|0.71581	2.175|2.175	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.75363|0.75363	-0.3344|-0.3344	10|5	0.48119|.	T|.	0.1|.	.|.	18.6141|18.6141	0.91296|0.91296	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	407|.	Q92556|.	ELMO1_HUMAN|.	H|N	109;407;311;407;407|186	ENSP00000342142:D109H;ENSP00000312185:D407H;ENSP00000406952:D407H;ENSP00000394458:D407H|.	ENSP00000312185:D407H|.	D|K	-|-	1|3	0|2	ELMO1|ELMO1	37102830|37102830	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.985000|0.985000	0.73830|0.73830	7.748000|7.748000	0.85085|0.85085	2.467000|2.467000	0.83353|0.83353	0.563000|0.563000	0.77884|0.77884	GAC|AAG	ELMO1	-	pfam_Engulfment_cell_motility_ELMO	ENSG00000155849		0.413	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELMO1	HGNC	protein_coding	OTTHUMT00000219830.4	107	0.00	0	C	NM_130442		37136305	37136305	-1	no_errors	ENST00000310758	ensembl	human	known	69_37n	missense	78	22.77	23	SNP	1.000	G
ELMO2	63916	genome.wustl.edu	37	20	45004369	45004369	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:45004369G>C	ENST00000290246.6	-	12	1062	c.868C>G	c.(868-870)Caa>Gaa	p.Q290E	ELMO2_ENST00000372176.1_Missense_Mutation_p.Q202E|ELMO2_ENST00000488853.1_5'UTR|ELMO2_ENST00000454865.2_Missense_Mutation_p.Q22E|ELMO2_ENST00000439931.2_Missense_Mutation_p.Q302E|ELMO2_ENST00000445496.2_Missense_Mutation_p.Q107E|ELMO2_ENST00000352077.2_Missense_Mutation_p.Q288E|ELMO2_ENST00000396391.1_Missense_Mutation_p.Q290E	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	290					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)				GTTAGGACTTGAAGGACATAT	0.502																																						dbGAP											0													142.0	124.0	130.0					20																	45004369		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.868C>G	20.37:g.45004369G>C	ENSP00000290246:p.Gln290Glu	Somatic		WXS	Illumina GAIIx	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.Q302E	ENST00000290246.6	37	c.904	CCDS13398.1	20	.	.	.	.	.	.	.	.	.	.	G	28.3	4.906871	0.92107	.	.	ENSG00000062598	ENST00000290246;ENST00000372176;ENST00000396391;ENST00000439931;ENST00000445496;ENST00000454865;ENST00000352077;ENST00000425546;ENST00000450812	T;T;T;T;T;T;T;T;T	0.61274	1.5;1.26;1.5;0.67;1.09;0.76;1.45;0.57;0.12	4.99	4.99	0.66335	Terpene synthase-like (1);	0.000000	0.85682	D	0.000000	T	0.78489	0.4291	M	0.82193	2.58	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.99;0.997;0.999;0.998;0.999	T	0.81940	-0.0703	10	0.87932	D	0	-15.1594	17.4519	0.87594	0.0:0.0:1.0:0.0	.	302;22;290;107;290	B4DRL5;B4DZ20;E9PBG2;B7Z1S8;Q96JJ3	.;.;.;.;ELMO2_HUMAN	E	290;202;290;302;107;22;288;78;290	ENSP00000290246:Q290E;ENSP00000361249:Q202E;ENSP00000379673:Q290E;ENSP00000396519:Q302E;ENSP00000409920:Q107E;ENSP00000415641:Q22E;ENSP00000326172:Q288E;ENSP00000388962:Q78E;ENSP00000416181:Q290E	ENSP00000290246:Q290E	Q	-	1	0	ELMO2	44437776	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.657000	0.98554	2.592000	0.87571	0.555000	0.69702	CAA	ELMO2	-	NULL	ENSG00000062598		0.502	ELMO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ELMO2	HGNC	protein_coding	OTTHUMT00000080466.1	104	0.00	0	G	NM_022086		45004369	45004369	-1	no_errors	ENST00000439931	ensembl	human	known	69_37n	missense	130	19.75	32	SNP	1.000	C
ELOVL4	6785	genome.wustl.edu	37	6	80656978	80656978	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:80656978C>G	ENST00000369816.4	-	1	319	c.19G>C	c.(19-21)Gag>Cag	p.E7Q		NM_022726.3	NP_073563.1	Q9GZR5	ELOV4_HUMAN	ELOVL fatty acid elongase 4	7					cellular lipid metabolic process (GO:0044255)|detection of visible light (GO:0009584)|fatty acid biosynthetic process (GO:0006633)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)	G-protein coupled photoreceptor activity (GO:0008020)|transferase activity (GO:0016740)			central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	CTACCCGGCTCCGAGTCCAGG	0.662																																						dbGAP											0													62.0	52.0	55.0					6																	80656978		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF277094	CCDS4992.1	6q14	2013-01-08	2011-05-25		ENSG00000118402	ENSG00000118402			14415	protein-coding gene	gene with protein product	"""cancer/testis antigen 118"""	605512	"""elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4"""	STGD2, STGD3		11138005	Standard	NM_022726		Approved	CT118	uc003pja.4	Q9GZR5	OTTHUMG00000015087	ENST00000369816.4:c.19G>C	6.37:g.80656978C>G	ENSP00000358831:p.Glu7Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6B5|Q5TCS2|Q86YJ1|Q9H139	Missense_Mutation	SNP	pfam_GNS1_SUR4	p.E7Q	ENST00000369816.4	37	c.19	CCDS4992.1	6	.	.	.	.	.	.	.	.	.	.	C	16.46	3.130348	0.56721	.	.	ENSG00000118402	ENST00000369816	T	0.18174	2.23	4.11	4.11	0.48088	.	0.289705	0.27429	N	0.019407	T	0.03520	0.0101	N	0.08118	0	0.27912	N	0.938594	B	0.26445	0.149	B	0.28232	0.087	T	0.34030	-0.9845	10	0.38643	T	0.18	-6.7537	11.7008	0.51569	0.0:1.0:0.0:0.0	.	7	Q9GZR5	ELOV4_HUMAN	Q	7	ENSP00000358831:E7Q	ENSP00000358831:E7Q	E	-	1	0	ELOVL4	80713697	0.988000	0.35896	1.000000	0.80357	0.987000	0.75469	0.890000	0.28295	2.116000	0.64780	0.462000	0.41574	GAG	ELOVL4	-	NULL	ENSG00000118402		0.662	ELOVL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELOVL4	HGNC	protein_coding	OTTHUMT00000041315.1	24	0.00	0	C			80656978	80656978	-1	no_errors	ENST00000369816	ensembl	human	known	69_37n	missense	15	25.00	5	SNP	1.000	G
ELOVL6	79071	genome.wustl.edu	37	4	110972499	110972499	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:110972499C>T	ENST00000394607.3	-	5	956	c.793G>A	c.(793-795)Gaa>Aaa	p.E265K	ELOVL6_ENST00000302274.3_Missense_Mutation_p.E265K			Q9H5J4	ELOV6_HUMAN	ELOVL fatty acid elongase 6	265					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty acid biosynthetic process (GO:0042759)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8				OV - Ovarian serous cystadenocarcinoma(123;0.00462)		CAACACTATTCAGCTTTCGTT	0.438																																						dbGAP											0													79.0	77.0	78.0					4																	110972499		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK027031	CCDS3690.1	4q25	2011-05-25	2011-05-25		ENSG00000170522	ENSG00000170522			15829	protein-coding gene	gene with protein product		611546	"""ELOVL family member 6, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)"""			11567032	Standard	NM_024090		Approved	FLJ23378, MGC5487, LCE	uc003hzz.3	Q9H5J4	OTTHUMG00000132547	ENST00000394607.3:c.793G>A	4.37:g.110972499C>T	ENSP00000378105:p.Glu265Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W5L0|Q8NCD1	Missense_Mutation	SNP	pfam_GNS1_SUR4	p.E265K	ENST00000394607.3	37	c.793	CCDS3690.1	4	.	.	.	.	.	.	.	.	.	.	C	17.15	3.316584	0.60524	.	.	ENSG00000170522	ENST00000394607;ENST00000302274	T;T	0.22539	1.95;1.95	6.17	6.17	0.99709	.	0.242151	0.40818	N	0.001020	T	0.13415	0.0325	N	0.08118	0	0.44188	D	0.997001	B	0.02656	0.0	B	0.04013	0.001	T	0.23332	-1.0191	10	0.13470	T	0.59	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	265	Q9H5J4	ELOV6_HUMAN	K	265	ENSP00000378105:E265K;ENSP00000304736:E265K	ENSP00000304736:E265K	E	-	1	0	ELOVL6	111191948	1.000000	0.71417	0.743000	0.31040	0.991000	0.79684	4.813000	0.62620	2.941000	0.99782	0.655000	0.94253	GAA	ELOVL6	-	NULL	ENSG00000170522		0.438	ELOVL6-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ELOVL6	HGNC	protein_coding	OTTHUMT00000255748.1	50	0.00	0	C	NM_024090		110972499	110972499	-1	no_errors	ENST00000394607	ensembl	human	known	69_37n	missense	36	28.00	14	SNP	0.994	T
ELP2	55250	genome.wustl.edu	37	18	33709951	33709951	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr18:33709951C>T	ENST00000358232.6	+	1	118	c.55C>T	c.(55-57)Cgg>Tgg	p.R19W	ELP2_ENST00000442325.2_Missense_Mutation_p.R19W|ELP2_ENST00000423854.2_Missense_Mutation_p.R19W|ELP2_ENST00000350494.6_Missense_Mutation_p.R19W|SLC39A6_ENST00000590986.1_5'Flank|ELP2_ENST00000351393.6_Missense_Mutation_p.R19W|ELP2_ENST00000542824.1_Missense_Mutation_p.R19W|SLC39A6_ENST00000269187.5_5'Flank|SLC39A6_ENST00000440549.2_5'Flank	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	19					chromatin organization (GO:0006325)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						AAACCGGGTGCGGGGAGTCCT	0.622																																						dbGAP											0													71.0	66.0	68.0					18																	33709951		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001741	CCDS11918.1, CCDS56065.1, CCDS56066.1, CCDS56067.1, CCDS56068.1, CCDS56069.1	18q12.1	2013-01-10	2012-08-08	2007-04-20	ENSG00000134759	ENSG00000134759		"""Elongator acetyltransferase complex subunits"", ""WD repeat domain containing"""	18248	protein-coding gene	gene with protein product			"""signal transducer and activator of transcription 3 interacting protein 1"", ""elongation protein 2 homolog (S. cerevisiae)"""	STATIP1		11714725, 10954736	Standard	NM_001242875		Approved	FLJ10879, StIP	uc002kzk.2	Q6IA86	OTTHUMG00000132589	ENST00000358232.6:c.55C>T	18.37:g.33709951C>T	ENSP00000350967:p.Arg19Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAI6|B4DTG0|B4DXP0|E7EP23|E9PCX0|Q53GZ0|Q687Y8|Q8N5C2|Q96GV4|Q96PI7|Q9H9N0|Q9NV81	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R19W	ENST00000358232.6	37	c.55	CCDS11918.1	18	.	.	.	.	.	.	.	.	.	.	C	29.2	4.984446	0.93044	.	.	ENSG00000134759	ENST00000358232;ENST00000351393;ENST00000442325;ENST00000423854;ENST00000350494;ENST00000542824	T;T;T;T;T;T	0.59906	0.23;0.35;0.68;2.21;0.46;0.34	5.61	5.61	0.85477	WD40 repeat-like-containing domain (1);	0.122150	0.56097	D	0.000024	T	0.69708	0.3141	L	0.51422	1.61	0.39400	D	0.966572	D;D;D;D;D;D	0.89917	0.999;1.0;0.999;0.999;0.999;0.999	D;D;D;D;D;D	0.67548	0.952;0.952;0.937;0.933;0.949;0.937	T	0.71978	-0.4429	10	0.59425	D	0.04	-21.301	15.1309	0.72523	0.0:1.0:0.0:0.0	.	19;19;19;19;19;19	B4DTG0;E7EP23;E9PCX0;Q6IA86-2;Q6IA86-3;Q6IA86	.;.;.;.;.;ELP2_HUMAN	W	19	ENSP00000350967:R19W;ENSP00000257191:R19W;ENSP00000414851:R19W;ENSP00000391202:R19W;ENSP00000316051:R19W;ENSP00000443800:R19W	ENSP00000316051:R19W	R	+	1	2	ELP2	31963949	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.528000	0.35985	2.645000	0.89757	0.585000	0.79938	CGG	ELP2	-	superfamily_WD40_repeat_dom	ENSG00000134759		0.622	ELP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELP2	HGNC	protein_coding	OTTHUMT00000255800.2	50	0.00	0	C	NM_018255		33709951	33709951	+1	no_errors	ENST00000358232	ensembl	human	known	69_37n	missense	32	25.58	11	SNP	1.000	T
ELTD1	64123	genome.wustl.edu	37	1	79470885	79470885	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:79470885C>T	ENST00000370742.3	-	2	105	c.42G>A	c.(40-42)ttG>ttA	p.L14L		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	14					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		AGGAACAATTCAACAAAGTGG	0.333																																						dbGAP											0													71.0	61.0	64.0					1																	79470885		1813	4079	5892	-	-	-	SO:0001819	synonymous_variant	0			AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.42G>A	1.37:g.79470885C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AR71|Q5KU34	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_EGF-like_Ca-bd,smart_EGF-like,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.L14	ENST00000370742.3	37	c.42	CCDS41352.1	1																																																																																			ELTD1	-	NULL	ENSG00000162618		0.333	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELTD1	HGNC	protein_coding	OTTHUMT00000026859.1	110	0.00	0	C	NM_022159		79470885	79470885	-1	no_errors	ENST00000370742	ensembl	human	known	69_37n	silent	82	24.07	26	SNP	0.961	T
EMC2	9694	genome.wustl.edu	37	8	109482299	109482299	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:109482299G>C	ENST00000220853.3	+	7	493	c.458G>C	c.(457-459)gGa>gCa	p.G153A	EMC2_ENST00000520294.1_3'UTR	NM_014673.3	NP_055488.1	Q15006	EMC2_HUMAN	ER membrane protein complex subunit 2	153						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|ER membrane protein complex (GO:0072546)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											AGATTTGTTGGAGACCAAGAA	0.343																																						dbGAP											0													52.0	49.0	50.0					8																	109482299		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC021667	CCDS6309.1	8q23.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000104412	ENSG00000104412			28963	protein-coding gene	gene with protein product		607722	"""tetratricopeptide repeat domain 35"""	KIAA0103, TTC35		7788527, 22119785	Standard	NM_014673		Approved		uc003ymw.1	Q15006	OTTHUMG00000164873	ENST00000220853.3:c.458G>C	8.37:g.109482299G>C	ENSP00000220853:p.Gly153Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WUE1	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.G153A	ENST00000220853.3	37	c.458	CCDS6309.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.41|13.41	2.230182|2.230182	0.39399|0.39399	.|.	.|.	ENSG00000104412|ENSG00000104412	ENST00000519642|ENST00000220853	.|T	.|0.75821	.|-0.97	5.76|5.76	5.76|5.76	0.90799|0.90799	.|Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	.|0.046814	.|0.85682	.|D	.|0.000000	T|T	0.53302|0.53302	0.1788|0.1788	N|N	0.02751|0.02751	-0.505|-0.505	0.80722|0.80722	D|D	1|1	.|B	.|0.17667	.|0.023	.|B	.|0.12837	.|0.008	T|T	0.52586|0.52586	-0.8556|-0.8556	5|10	.|0.12103	.|T	.|0.63	-8.4772|-8.4772	20.3431|20.3431	0.98773|0.98773	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|153	.|Q15006	.|TTC35_HUMAN	Q|A	101|153	.|ENSP00000220853:G153A	.|ENSP00000220853:G153A	E|G	+|+	1|2	0|0	TTC35|TTC35	109551475|109551475	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.375000|9.375000	0.97178|0.97178	2.880000|2.880000	0.98712|0.98712	0.650000|0.650000	0.86243|0.86243	GAG|GGA	EMC2	-	pfscan_TPR-contain_dom	ENSG00000104412		0.343	EMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMC2	HGNC	protein_coding	OTTHUMT00000380717.1	61	0.00	0	G	NM_014673		109482299	109482299	+1	no_errors	ENST00000220853	ensembl	human	known	69_37n	missense	87	19.44	21	SNP	1.000	C
EMC3	55831	genome.wustl.edu	37	3	10012309	10012309	+	Silent	SNP	A	A	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:10012309A>G	ENST00000245046.2	-	6	989	c.531T>C	c.(529-531)ttT>ttC	p.F177F	EMC3_ENST00000497557.1_5'UTR	NM_018447.2	NP_060917.1	Q9P0I2	EMC3_HUMAN	ER membrane protein complex subunit 3	177						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											TCCGAAGCCCAAATACATTGA	0.398																																						dbGAP											0													122.0	121.0	121.0					3																	10012309		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF157321	CCDS2594.1	3p25.3	2012-05-23	2012-05-23	2012-05-23	ENSG00000125037	ENSG00000125037			23999	protein-coding gene	gene with protein product			"""transmembrane protein 111"""	TMEM111		19797678, 22119785	Standard	NM_018447		Approved		uc003bun.3	Q9P0I2	OTTHUMG00000128652	ENST00000245046.2:c.531T>C	3.37:g.10012309A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R4Z9|Q53GH8|Q6ZMC2	Silent	SNP	pfam_DUF106_TM,pirsf_UCP010045_TM_euk	p.F177	ENST00000245046.2	37	c.531	CCDS2594.1	3																																																																																			EMC3	-	pfam_DUF106_TM,pirsf_UCP010045_TM_euk	ENSG00000125037		0.398	EMC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMC3	HGNC	protein_coding	OTTHUMT00000250532.1	99	0.00	0	A	NM_018447		10012309	10012309	-1	no_errors	ENST00000245046	ensembl	human	known	69_37n	silent	131	10.88	16	SNP	1.000	G
EMC9	51016	genome.wustl.edu	37	14	24610475	24610475	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:24610475C>G	ENST00000419198.2	-	1	319	c.39G>C	c.(37-39)aaG>aaC	p.K13N	EMC9_ENST00000558200.1_5'UTR|PSME2_ENST00000471700.2_5'Flank|EMC9_ENST00000216799.4_Missense_Mutation_p.K13N|EMC9_ENST00000560403.1_Intron|RP11-468E2.5_ENST00000558478.1_lincRNA			Q9Y3B6	EMC9_HUMAN	ER membrane protein complex subunit 9	13						cytoplasm (GO:0005737)|ER membrane protein complex (GO:0072546)											GCAGGCACATCTTCACGTAGG	0.652											OREG0022618	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													84.0	81.0	82.0					14																	24610475		2203	4300	6503	-	-	-	SO:0001583	missense	0			BF346999	CCDS9613.1	14q12	2012-05-30	2012-05-30	2012-05-30	ENSG00000100908	ENSG00000100908			20273	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 122"", ""family with sequence similarity 158, member A"""	C14orf122, FAM158A		22119785	Standard	NM_016049		Approved	CGI-112	uc001wmi.3	Q9Y3B6	OTTHUMG00000028796	ENST00000419198.2:c.39G>C	14.37:g.24610475C>G	ENSP00000403210:p.Lys13Asn	Somatic	772	WXS	Illumina GAIIx	Phase_IV	D3DS60|Q9BUM3	Missense_Mutation	SNP	pfam_UPF0172	p.K13N	ENST00000419198.2	37	c.39	CCDS9613.1	14	.	.	.	.	.	.	.	.	.	.	C	34	5.384387	0.95967	.	.	ENSG00000100908	ENST00000419198;ENST00000216799	T;T	0.63744	-0.06;-0.06	6.08	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.81987	0.4939	M	0.90759	3.145	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85647	0.1280	10	0.87932	D	0	-11.0933	12.9379	0.58325	0.0:0.9225:0.0:0.0775	.	13	Q9Y3B6	F158A_HUMAN	N	13	ENSP00000403210:K13N;ENSP00000216799:K13N	ENSP00000216799:K13N	K	-	3	2	FAM158A	23680315	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.137000	0.64789	1.590000	0.49995	0.655000	0.94253	AAG	EMC9	-	pfam_UPF0172	ENSG00000100908		0.652	EMC9-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EMC9	HGNC	protein_coding	OTTHUMT00000071917.4	43	0.00	0	C	NM_016049		24610475	24610475	-1	no_errors	ENST00000216799	ensembl	human	known	69_37n	missense	17	48.48	16	SNP	1.000	G
EME1	146956	genome.wustl.edu	37	17	48456915	48456915	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:48456915G>A	ENST00000338165.4	+	7	1415	c.1333G>A	c.(1333-1335)Gag>Aag	p.E445K	EME1_ENST00000393271.2_Missense_Mutation_p.E458K|EME1_ENST00000511648.2_Missense_Mutation_p.E458K	NM_152463.2	NP_689676.2	Q96AY2	EME1_HUMAN	essential meiotic structure-specific endonuclease 1	445					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	19	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			GGCTGTGGCTGAGGCGCCCTT	0.547								Direct reversal of damage;Homologous recombination																														dbGAP											0													66.0	59.0	61.0					17																	48456915		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC016470	CCDS11565.1, CCDS54141.1	17q21.33	2013-07-03	2013-07-03			ENSG00000154920			24965	protein-coding gene	gene with protein product	"""SLX2 structure-specific endonuclease subunit homolog A (S. cerevisiae)"""	610885	"""essential meiotic endonuclease 1 homolog 1 (S. pombe)"""			12721304	Standard	NM_001166131		Approved	FLJ31364, MMS4L, SLX2A	uc010dbp.2	Q96AY2		ENST00000338165.4:c.1333G>A	17.37:g.48456915G>A	ENSP00000339897:p.Glu445Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96N62	Missense_Mutation	SNP	pfam_ERCC4_domain,smart_ERCC4_domain	p.E458K	ENST00000338165.4	37	c.1372	CCDS11565.1	17	.	.	.	.	.	.	.	.	.	.	G	27.4	4.826199	0.90955	.	.	ENSG00000154920	ENST00000338165;ENST00000393271;ENST00000511648	T;T;T	0.12672	2.66;2.67;2.67	5.91	4.93	0.64822	ERCC4 domain (2);	0.000000	0.85682	D	0.000000	T	0.36635	0.0974	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.19582	-1.0301	10	0.87932	D	0	.	17.077	0.86589	0.0:0.1269:0.8731:0.0	.	458;445	Q96AY2-2;Q96AY2	.;EME1_HUMAN	K	445;458;458	ENSP00000339897:E445K;ENSP00000376952:E458K;ENSP00000421700:E458K	ENSP00000339897:E445K	E	+	1	0	EME1	45811914	1.000000	0.71417	0.275000	0.24674	0.827000	0.46813	9.202000	0.95026	1.485000	0.48380	0.655000	0.94253	GAG	EME1	-	pfam_ERCC4_domain,smart_ERCC4_domain	ENSG00000154920		0.547	EME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EME1	HGNC	protein_coding	OTTHUMT00000367118.3	42	0.00	0	G	NM_152463		48456915	48456915	+1	no_errors	ENST00000393271	ensembl	human	known	69_37n	missense	111	14.62	19	SNP	0.999	A
EML2	24139	genome.wustl.edu	37	19	46124794	46124794	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:46124794C>T	ENST00000245925.3	-	10	993	c.943G>A	c.(943-945)Gat>Aat	p.D315N	EML2_ENST00000589876.1_Missense_Mutation_p.D315N|EML2_ENST00000587152.1_Missense_Mutation_p.D516N|EML2_ENST00000586902.1_5'Flank|EML2_ENST00000536630.1_Missense_Mutation_p.D462N	NM_012155.2	NP_036287.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	315	Tandem atypical propeller in EMLs. {ECO:0000250}.				negative regulation of microtubule polymerization (GO:0031115)|regulation of microtubule nucleation (GO:0010968)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		ACCCGCCGATCACGGCCCCCT	0.692																																						dbGAP											0													45.0	47.0	47.0					19																	46124794		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF103939	CCDS12670.1, CCDS54280.1, CCDS59399.1	19q13.32	2013-01-10				ENSG00000125746		"""WD repeat domain containing"""	18035	protein-coding gene	gene with protein product	"""echinoderm MT-associated protein (EMAP)-like protein 70"", ""microtubule-associated protein like echinoderm EMAP"""					11694528, 10521658	Standard	NM_012155		Approved	EMAP2, ELP70, EMAP-2	uc010xxm.2	O95834		ENST00000245925.3:c.943G>A	19.37:g.46124794C>T	ENSP00000245925:p.Asp315Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3I2|B7Z3Q9|K7ERL7|Q59EN8|Q8N5A2|Q9UG50	Missense_Mutation	SNP	pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_Quinoprot_gluc/sorb_DH,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D516N	ENST00000245925.3	37	c.1546	CCDS12670.1	19	.	.	.	.	.	.	.	.	.	.	C	23.8	4.460011	0.84317	.	.	ENSG00000125746	ENST00000536630;ENST00000245925;ENST00000399594	T;T;T	0.55760	0.5;0.5;4.25	3.2	3.2	0.36748	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.74152	0.3679	M	0.88775	2.98	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;0.997;0.999;0.992	T	0.79257	-0.1878	10	0.66056	D	0.02	-5.7803	11.8789	0.52562	0.0:1.0:0.0:0.0	.	315;481;462;315	B7Z918;B7Z3Q9;B7Z3I2;O95834	.;.;.;EMAL2_HUMAN	N	462;315;473	ENSP00000442365:D462N;ENSP00000245925:D315N;ENSP00000382503:D473N	ENSP00000245925:D315N	D	-	1	0	EML2	50816634	1.000000	0.71417	0.988000	0.46212	0.870000	0.49936	7.225000	0.78051	1.625000	0.50366	0.195000	0.17529	GAT	EML2	-	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000125746		0.692	EML2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	EML2	HGNC	protein_coding	OTTHUMT00000459608.1	46	0.00	0	C	NM_012155		46124794	46124794	-1	no_errors	ENST00000587152	ensembl	human	known	69_37n	missense	29	16.67	6	SNP	1.000	T
EML3	256364	genome.wustl.edu	37	11	62378355	62378355	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:62378355C>T	ENST00000394773.2	-	4	869	c.562G>A	c.(562-564)Gag>Aag	p.E188K	EML3_ENST00000531557.1_5'UTR|EML3_ENST00000438258.1_5'Flank|ROM1_ENST00000534093.1_5'Flank|EML3_ENST00000529309.1_Missense_Mutation_p.E188K|ROM1_ENST00000278833.3_5'Flank|EML3_ENST00000278845.4_Missense_Mutation_p.E189K|EML3_ENST00000494176.2_Missense_Mutation_p.E160K	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	188						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						ACCCACCTCTCTGTGCTCCCG	0.632																																						dbGAP											0													30.0	32.0	31.0					11																	62378355		2202	4299	6501	-	-	-	SO:0001583	missense	0			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.562G>A	11.37:g.62378355C>T	ENSP00000378254:p.Glu188Lys	Somatic		WXS	Illumina GAIIx	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.E188K	ENST00000394773.2	37	c.562	CCDS8023.2	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.837|8.837	0.941346|0.941346	0.18281|0.18281	.|.	.|.	ENSG00000149499|ENSG00000149499	ENST00000394773;ENST00000278845;ENST00000494176;ENST00000529309|ENST00000394776	T;T;T;T|.	0.13307|.	2.6;2.6;2.6;2.6|.	5.19|5.19	5.19|5.19	0.71726|0.71726	.|.	0.208221|.	0.27495|.	N|.	0.019102|.	T|T	0.51635|0.51635	0.1686|0.1686	N|N	0.24115|0.24115	0.695|0.695	0.42605|0.42605	D|D	0.993296|0.993296	B;B;P;D|.	0.67145|.	0.112;0.308;0.487;0.996|.	B;B;B;D|.	0.76071|.	0.019;0.101;0.229;0.987|.	T|T	0.48456|0.48456	-0.9034|-0.9034	10|5	0.09338|.	T|.	0.73|.	-8.3826|-8.3826	14.2108|14.2108	0.65764|0.65764	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	188;188;189;160|.	Q32P44-2;Q32P44;B7WPE2;G3V1D0|.	.;EMAL3_HUMAN;.;.|.	K|K	188;189;160;188|182	ENSP00000378254:E188K;ENSP00000278845:E189K;ENSP00000435064:E160K;ENSP00000434513:E188K|.	ENSP00000278845:E189K|.	E|R	-|-	1|2	0|0	EML3|EML3	62134931|62134931	0.998000|0.998000	0.40836|0.40836	0.945000|0.945000	0.38365|0.38365	0.280000|0.280000	0.26924|0.26924	4.911000|4.911000	0.63328|0.63328	2.430000|2.430000	0.82344|0.82344	0.313000|0.313000	0.20887|0.20887	GAG|AGA	EML3	-	NULL	ENSG00000149499		0.632	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	EML3	HGNC	protein_coding	OTTHUMT00000313432.1	13	0.00	0	C	NM_153265		62378355	62378355	-1	no_errors	ENST00000529309	ensembl	human	known	69_37n	missense	12	45.45	10	SNP	0.989	T
EML4	27436	genome.wustl.edu	37	2	42544566	42544566	+	Splice_Site	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:42544566G>C	ENST00000318522.5	+	19	2318		c.e19-1		EML4_ENST00000401738.3_Splice_Site|EML4_ENST00000453191.2_Intron|EML4_ENST00000402711.2_Splice_Site	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4						microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)			EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						TTTTATTCTAGATGGTACCTT	0.313			T	ALK	NSCLC																																	dbGAP		Dom	yes		2	2p21	27436	echinoderm microtubule associated protein like 4		E	0													120.0	118.0	119.0					2																	42544566		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"""WD repeat domain containing"""	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.2057-1G>C	2.37:g.42544566G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Splice_Site	SNP	-	e19-1	ENST00000318522.5	37	c.2057-1	CCDS1807.1	2	.	.	.	.	.	.	.	.	.	.	G	20.2	3.943704	0.73672	.	.	ENSG00000143924	ENST00000318522;ENST00000402711;ENST00000401738	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9595	0.97236	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EML4	42398070	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	8.884000	0.92432	2.706000	0.92434	0.563000	0.77884	.	EML4	-	-	ENSG00000143924		0.313	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EML4	HGNC	protein_coding	OTTHUMT00000250463.3	138	0.00	0	G	NM_019063	Intron	42544566	42544566	+1	no_errors	ENST00000318522	ensembl	human	known	69_37n	splice_site	106	22.06	30	SNP	1.000	C
EML6	400954	genome.wustl.edu	37	2	55056533	55056533	+	Missense_Mutation	SNP	G	G	C	rs554072813		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:55056533G>C	ENST00000356458.6	+	6	1286	c.766G>C	c.(766-768)Gat>Cat	p.D256H		NM_001039753.2	NP_001034842.2	Q6ZMW3	EMAL6_HUMAN	echinoderm microtubule associated protein like 6	256						cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(6)	7						TGGTGGGCGAGATGGGTGTAT	0.413																																						dbGAP											0													236.0	191.0	205.0					2																	55056533		692	1591	2283	-	-	-	SO:0001583	missense	0				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.766G>C	2.37:g.55056533G>C	ENSP00000348842:p.Asp256His	Somatic		WXS	Illumina GAIIx	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.D256H	ENST00000356458.6	37	c.766	CCDS46286.1	2	.	.	.	.	.	.	.	.	.	.	G	27.2	4.809718	0.90707	.	.	ENSG00000214595	ENST00000356458	D	0.89415	-2.51	5.47	5.47	0.80525	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);WD40-repeat-containing domain (1);	0.000000	0.26939	U	0.021732	D	0.96981	0.9014	H	0.98027	4.13	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	D	0.98329	1.0532	10	0.87932	D	0	.	19.3332	0.94303	0.0:0.0:1.0:0.0	.	256	Q6ZMW3	EMAL6_HUMAN	H	256	ENSP00000348842:D256H	ENSP00000348842:D256H	D	+	1	0	EML6	54910037	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.420000	0.97426	2.568000	0.86640	0.455000	0.32223	GAT	EML6	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000214595		0.413	EML6-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	EML6	HGNC	protein_coding	OTTHUMT00000324997.3	132	0.00	0	G	XM_001725002		55056533	55056533	+1	no_errors	ENST00000356458	ensembl	human	novel	69_37n	missense	109	20.44	28	SNP	1.000	C
EML6	400954	genome.wustl.edu	37	2	55090994	55090994	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:55090994G>A	ENST00000356458.6	+	12	2420	c.1900G>A	c.(1900-1902)Gag>Aag	p.E634K		NM_001039753.2	NP_001034842.2	Q6ZMW3	EMAL6_HUMAN	echinoderm microtubule associated protein like 6	634						cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(6)	7						CTCTGATATTGAGCAAGAAGC	0.438																																						dbGAP											0													83.0	67.0	72.0					2																	55090994		692	1591	2283	-	-	-	SO:0001583	missense	0				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.1900G>A	2.37:g.55090994G>A	ENSP00000348842:p.Glu634Lys	Somatic		WXS	Illumina GAIIx	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.E634K	ENST00000356458.6	37	c.1900	CCDS46286.1	2	.	.	.	.	.	.	.	.	.	.	G	34	5.392807	0.96009	.	.	ENSG00000214595	ENST00000356458	T	0.35421	1.31	5.42	5.42	0.78866	.	0.000000	0.27315	U	0.019930	T	0.61261	0.2333	M	0.68593	2.085	0.58432	D	0.999991	D	0.89917	1.0	D	0.87578	0.998	T	0.63037	-0.6726	10	0.66056	D	0.02	.	19.2123	0.93760	0.0:0.0:1.0:0.0	.	634	Q6ZMW3	EMAL6_HUMAN	K	634	ENSP00000348842:E634K	ENSP00000348842:E634K	E	+	1	0	EML6	54944498	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.405000	0.97313	2.528000	0.85240	0.591000	0.81541	GAG	EML6	-	NULL	ENSG00000214595		0.438	EML6-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	EML6	HGNC	protein_coding	OTTHUMT00000324997.3	78	0.00	0	G	XM_001725002		55090994	55090994	+1	no_errors	ENST00000356458	ensembl	human	novel	69_37n	missense	53	22.06	15	SNP	1.000	A
EMR3	84658	genome.wustl.edu	37	19	14758073	14758073	+	Missense_Mutation	SNP	G	G	C	rs369269000		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:14758073G>C	ENST00000253673.5	-	8	902	c.802C>G	c.(802-804)Cag>Gag	p.Q268E	EMR3_ENST00000443157.2_Missense_Mutation_p.Q142E|EMR3_ENST00000599900.1_Missense_Mutation_p.Q53E|EMR3_ENST00000344373.4_Missense_Mutation_p.Q216E	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	268					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						CTCACAACCTGAGAGTTCAGA	0.423																																						dbGAP											0													198.0	160.0	173.0					19																	14758073		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"""-"", ""GPCR / Class B : Orphans"""	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.802C>G	19.37:g.14758073G>C	ENSP00000253673:p.Gln268Glu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EGF-like_Ca-bd,smart_EGF-like,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CD97	p.Q268E	ENST00000253673.5	37	c.802	CCDS12315.1	19	.	.	.	.	.	.	.	.	.	.	G	0.088	-1.171563	0.01660	.	.	ENSG00000131355	ENST00000443157;ENST00000253673;ENST00000344373	T;T;T	0.39406	1.08;3.03;3.03	3.94	1.54	0.23209	.	.	.	.	.	T	0.20618	0.0496	N	0.14661	0.345	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.15052	0.012;0.007;0.003	T	0.26815	-1.0092	9	0.06236	T	0.91	.	8.0695	0.30680	0.0:0.0:0.5593:0.4407	.	142;216;268	E7EW83;Q9BY15-2;Q9BY15	.;.;EMR3_HUMAN	E	142;268;216	ENSP00000396208:Q142E;ENSP00000253673:Q268E;ENSP00000340758:Q216E	ENSP00000253673:Q268E	Q	-	1	0	EMR3	14619073	0.002000	0.14202	0.638000	0.29380	0.006000	0.05464	-0.039000	0.12124	0.628000	0.30357	-0.194000	0.12790	CAG	EMR3	-	prints_GPCR_2_EMR1_rcpt	ENSG00000131355		0.423	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMR3	HGNC	protein_coding	OTTHUMT00000466488.1	97	0.00	0	G	NM_032571		14758073	14758073	-1	no_errors	ENST00000253673	ensembl	human	known	69_37n	missense	47	48.35	44	SNP	0.367	C
ENAH	55740	genome.wustl.edu	37	1	225700669	225700669	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:225700669G>T	ENST00000366844.3	-	8	1719	c.1268C>A	c.(1267-1269)tCc>tAc	p.S423Y	ENAH_ENST00000366843.2_Missense_Mutation_p.S423Y|ENAH_ENST00000284563.6_Missense_Mutation_p.S670Y	NM_001008493.1|NM_018212.4	NP_001008493.1|NP_060682.2	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)	423	EVH2.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|intracellular transport (GO:0046907)|neural tube closure (GO:0001843)|T cell receptor signaling pathway (GO:0050852)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)|synapse (GO:0045202)	WW domain binding (GO:0050699)			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		AGATGAGGCGGAGTTCACACC	0.448																																						dbGAP											0													117.0	112.0	114.0					1																	225700669		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001635	CCDS31040.1, CCDS31041.1	1q32.2	2013-08-06			ENSG00000154380	ENSG00000154380			18271	protein-coding gene	gene with protein product	"""mammalian enabled"""	609061				1420303	Standard	XM_005273182		Approved	FLJ10773, NDPP1, MENA	uc001hpc.1	Q8N8S7	OTTHUMG00000037742	ENST00000366844.3:c.1268C>A	1.37:g.225700669G>T	ENSP00000355809:p.Ser423Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	D0PQI2|Q502W5|Q5T5M7|Q5VTQ9|Q5VTR0|Q9NVF3|Q9UFB8	Missense_Mutation	SNP	pfam_EVH1,pfam_VASP_tetra,smart_EVH1,pfscan_EVH1	p.S423Y	ENST00000366844.3	37	c.1268	CCDS31041.1	1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.728546	0.48833	.	.	ENSG00000154380	ENST00000366844;ENST00000366843;ENST00000284563;ENST00000538194	T;T;T	0.80738	-0.37;-0.34;-1.41	5.2	3.29	0.37713	.	0.299368	0.27023	N	0.021315	D	0.87414	0.6171	M	0.84326	2.69	0.32119	N	0.588238	D;D	0.69078	0.996;0.997	P;P	0.62184	0.899;0.898	D	0.88077	0.2804	10	0.66056	D	0.02	-0.2032	9.4336	0.38626	0.1683:0.0:0.8317:0.0	.	423;423	Q8N8S7-2;Q8N8S7	.;ENAH_HUMAN	Y	423;423;670;385	ENSP00000355809:S423Y;ENSP00000355808:S423Y;ENSP00000284563:S670Y	ENSP00000284563:S670Y	S	-	2	0	ENAH	223767292	1.000000	0.71417	0.041000	0.18516	0.563000	0.35712	5.139000	0.64801	0.654000	0.30846	0.563000	0.77884	TCC	ENAH	-	NULL	ENSG00000154380		0.448	ENAH-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENAH	HGNC	protein_coding	OTTHUMT00000357426.2	118	0.00	0	G	NM_018212		225700669	225700669	-1	no_errors	ENST00000366844	ensembl	human	known	69_37n	missense	135	19.64	33	SNP	0.800	T
ENAM	10117	genome.wustl.edu	37	4	71510192	71510192	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:71510192G>A	ENST00000396073.3	+	9	3330	c.3049G>A	c.(3049-3051)Gag>Aag	p.E1017K	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	1017					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CCTTACTCCTGAGCAGCTTGT	0.433																																						dbGAP											0													120.0	108.0	112.0					4																	71510192		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.3049G>A	4.37:g.71510192G>A	ENSP00000379383:p.Glu1017Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RI5|Q9H3D1	Missense_Mutation	SNP	NULL	p.E1017K	ENST00000396073.3	37	c.3049	CCDS3544.2	4	.	.	.	.	.	.	.	.	.	.	G	19.70	3.877097	0.72180	.	.	ENSG00000132464	ENST00000396073	T	0.47528	0.84	5.97	5.97	0.96955	.	0.000000	0.56097	D	0.000036	T	0.72236	0.3435	M	0.88031	2.925	0.36914	D	0.891022	D	0.62365	0.991	D	0.63877	0.919	T	0.80264	-0.1455	10	0.72032	D	0.01	-14.6615	15.9389	0.79739	0.0:0.0:1.0:0.0	.	1017	Q9NRM1	ENAM_HUMAN	K	1017	ENSP00000379383:E1017K	ENSP00000379383:E1017K	E	+	1	0	ENAM	71729056	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	3.625000	0.54238	2.836000	0.97738	0.655000	0.94253	GAG	ENAM	-	NULL	ENSG00000132464		0.433	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENAM	HGNC	protein_coding	OTTHUMT00000252166.3	72	0.00	0	G	NM_031889		71510192	71510192	+1	no_errors	ENST00000396073	ensembl	human	known	69_37n	missense	59	16.90	12	SNP	1.000	A
ENPEP	2028	genome.wustl.edu	37	4	111398053	111398053	+	Missense_Mutation	SNP	C	C	G	rs146450390		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:111398053C>G	ENST00000265162.5	+	1	825	c.483C>G	c.(481-483)ttC>ttG	p.F161L		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	161					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.F161F(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		GGAGGTGTTTCGAGTACAAAA	0.627																																						dbGAP											1	Substitution - coding silent(1)	skin(1)											94.0	105.0	102.0					4																	111398053		2203	4300	6503	-	-	-	SO:0001583	missense	0			L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.483C>G	4.37:g.111398053C>G	ENSP00000265162:p.Phe161Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q504U2	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.F161L	ENST00000265162.5	37	c.483	CCDS3691.1	4	.	.	.	.	.	.	.	.	.	.	C	12.93	2.086320	0.36855	.	.	ENSG00000138792	ENST00000265162	T	0.02472	4.28	5.43	-1.26	0.09376	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.06416	0.0165	L	0.39692	1.235	0.48341	D	0.999638	D	0.89917	1.0	D	0.83275	0.996	T	0.28681	-1.0036	10	0.07813	T	0.8	.	13.0951	0.59187	0.0:0.5372:0.0:0.4628	.	161	Q07075	AMPE_HUMAN	L	161	ENSP00000265162:F161L	ENSP00000265162:F161L	F	+	3	2	ENPEP	111617502	0.714000	0.27936	0.495000	0.27527	0.032000	0.12392	-0.145000	0.10265	-0.209000	0.10156	0.561000	0.74099	TTC	ENPEP	-	pfam_Peptidase_M1_N	ENSG00000138792		0.627	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPEP	HGNC	protein_coding	OTTHUMT00000255747.2	24	0.00	0	C			111398053	111398053	+1	no_errors	ENST00000265162	ensembl	human	known	69_37n	missense	13	40.91	9	SNP	0.392	G
ENPP1	5167	genome.wustl.edu	37	6	132195445	132195445	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:132195445C>A	ENST00000360971.2	+	16	1623	c.1603C>A	c.(1603-1605)Cat>Aat	p.H535N		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	535	Phosphodiesterase.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	AAGTGGATTTCATGGCTCTGA	0.269																																					Colon(104;336 1535 5856 11019 33782)	dbGAP											0													103.0	112.0	109.0					6																	132195445		2203	4292	6495	-	-	-	SO:0001583	missense	0			M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.1603C>A	6.37:g.132195445C>A	ENSP00000354238:p.His535Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.H535N	ENST00000360971.2	37	c.1603	CCDS5150.2	6	.	.	.	.	.	.	.	.	.	.	C	24.5	4.541400	0.85917	.	.	ENSG00000197594	ENST00000360971	D	0.84442	-1.85	5.95	5.95	0.96441	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.95950	0.8681	H	0.98664	4.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96918	0.9672	10	0.87932	D	0	-28.0805	20.3932	0.98965	0.0:1.0:0.0:0.0	.	535;165	P22413;Q7Z3P5	ENPP1_HUMAN;.	N	535	ENSP00000354238:H535N	ENSP00000354238:H535N	H	+	1	0	ENPP1	132237138	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.332000	0.72934	2.824000	0.97209	0.655000	0.94253	CAT	ENPP1	-	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	ENSG00000197594		0.269	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP1	HGNC	protein_coding	OTTHUMT00000042238.2	103	0.00	0	C			132195445	132195445	+1	no_errors	ENST00000360971	ensembl	human	known	69_37n	missense	61	19.74	15	SNP	1.000	A
ENPP2	5168	genome.wustl.edu	37	8	120629455	120629455	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:120629455C>A	ENST00000075322.6	-	7	664	c.606G>T	c.(604-606)atG>atT	p.M202I	ENPP2_ENST00000522826.1_Missense_Mutation_p.M202I|ENPP2_ENST00000427067.2_Missense_Mutation_p.M198I|ENPP2_ENST00000259486.6_Missense_Mutation_p.M202I	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	202					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ACACCGGCCTCATGTAGGGAG	0.383																																					Melanoma(20;305 879 2501 4818 31020)	dbGAP											0													75.0	74.0	74.0					8																	120629455		2203	4300	6503	-	-	-	SO:0001583	missense	0			D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.606G>T	8.37:g.120629455C>A	ENSP00000075322:p.Met202Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.M202I	ENST00000075322.6	37	c.606	CCDS34936.1	8	.	.	.	.	.	.	.	.	.	.	C	32	5.188241	0.94923	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522826;ENST00000075322;ENST00000520066	T;T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82;-0.82	5.81	5.81	0.92471	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.85111	0.5622	L	0.56769	1.78	0.80722	D	1	P;D;D	0.76494	0.608;0.999;0.995	P;D;D	0.79784	0.669;0.957;0.993	D	0.85294	0.1069	10	0.72032	D	0.01	.	20.0795	0.97766	0.0:1.0:0.0:0.0	.	202;202;202	E9PHP7;Q13822;Q13822-2	.;ENPP2_HUMAN;.	I	202;198;202;202;184	ENSP00000259486:M202I;ENSP00000403315:M198I;ENSP00000428291:M202I;ENSP00000075322:M202I;ENSP00000428304:M184I	ENSP00000075322:M202I	M	-	3	0	ENPP2	120698636	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	7.800000	0.85949	2.747000	0.94245	0.650000	0.86243	ATG	ENPP2	-	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	ENSG00000136960		0.383	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENPP2	HGNC	protein_coding	OTTHUMT00000381390.1	82	0.00	0	C			120629455	120629455	-1	no_errors	ENST00000259486	ensembl	human	known	69_37n	missense	94	17.54	20	SNP	1.000	A
ENTHD1	150350	genome.wustl.edu	37	22	40139768	40139768	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:40139768C>T	ENST00000325157.6	-	7	1990	c.1740G>A	c.(1738-1740)ttG>ttA	p.L580L		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	580										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					TCATGCTCATCAAGATGTTAT	0.413																																						dbGAP											0													140.0	119.0	126.0					22																	40139768		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK093154	CCDS13998.1	22q13.1	2006-06-26			ENSG00000176177	ENSG00000176177			26352	protein-coding gene	gene with protein product						12477932	Standard	NM_152512		Approved	FLJ25421	uc003ayg.3	Q8IYW4	OTTHUMG00000151098	ENST00000325157.6:c.1740G>A	22.37:g.40139768C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B0QYD5|Q5H9F7|Q96LK3	Silent	SNP	pfam_Epsin_dom_N,pfam_VHS,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.L580	ENST00000325157.6	37	c.1740	CCDS13998.1	22																																																																																			ENTHD1	-	NULL	ENSG00000176177		0.413	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTHD1	HGNC	protein_coding	OTTHUMT00000321302.1	97	0.00	0	C	NM_152512		40139768	40139768	-1	no_errors	ENST00000325157	ensembl	human	known	69_37n	silent	143	16.86	29	SNP	0.045	T
ENTPD2	954	genome.wustl.edu	37	9	139945809	139945809	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:139945809C>G	ENST00000355097.2	-	4	447	c.400G>C	c.(400-402)Gag>Cag	p.E134Q	RP11-229P13.15_ENST00000439076.1_RNA|ENTPD2_ENST00000460614.1_5'Flank|ENTPD2_ENST00000312665.5_Missense_Mutation_p.E134Q	NM_001246.3|NM_203468.2	NP_001237.1|NP_982293.1	Q9Y5L3	ENTP2_HUMAN	ectonucleoside triphosphate diphosphohydrolase 2	134					G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)	p.E134*(1)		endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GTCGAGGCCTCTGGATTGGTC	0.617																																						dbGAP											1	Substitution - Nonsense(1)	lung(1)											73.0	78.0	76.0					9																	139945809		2201	4300	6501	-	-	-	SO:0001583	missense	0			U91510	CCDS7025.1, CCDS7026.1	9q34	2008-07-21			ENSG00000054179	ENSG00000054179			3364	protein-coding gene	gene with protein product	"""CD39-like-1"", ""ecto-ATPase"""	602012		CD39L1		9271669	Standard	NM_203468		Approved	NTPDase-2	uc004ckw.2	Q9Y5L3	OTTHUMG00000020953	ENST00000355097.2:c.400G>C	9.37:g.139945809C>G	ENSP00000347213:p.Glu134Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O15464|Q5SPY6|Q5SPY7	Missense_Mutation	SNP	pfam_GDA1_CD39_NTPase	p.E134Q	ENST00000355097.2	37	c.400	CCDS7026.1	9	.	.	.	.	.	.	.	.	.	.	C	5.327	0.245577	0.10077	.	.	ENSG00000054179	ENST00000355097;ENST00000312665	T;T	0.12774	2.65;2.65	4.26	4.26	0.50523	.	0.475595	0.22876	N	0.054570	T	0.13970	0.0338	L	0.54908	1.71	0.25088	N	0.990879	B;B	0.25521	0.128;0.059	B;B	0.20577	0.03;0.013	T	0.09662	-1.0664	10	0.28530	T	0.3	-12.2864	12.4266	0.55551	0.0:0.8153:0.1847:0.0	.	134;134	Q9Y5L3-2;Q9Y5L3	.;ENTP2_HUMAN	Q	134	ENSP00000347213:E134Q;ENSP00000312494:E134Q	ENSP00000312494:E134Q	E	-	1	0	ENTPD2	139065630	0.000000	0.05858	0.980000	0.43619	0.357000	0.29423	-0.379000	0.07437	2.203000	0.70933	0.561000	0.74099	GAG	ENTPD2	-	pfam_GDA1_CD39_NTPase	ENSG00000054179		0.617	ENTPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTPD2	HGNC	protein_coding	OTTHUMT00000055169.1	42	0.00	0	C	NM_203468		139945809	139945809	-1	no_errors	ENST00000355097	ensembl	human	known	69_37n	missense	44	46.34	38	SNP	0.748	G
ENTPD5	957	genome.wustl.edu	37	14	74436730	74436730	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:74436730C>G	ENST00000334696.6	-	15	1502	c.1183G>C	c.(1183-1185)Gac>Cac	p.D395H	ENTPD5_ENST00000557325.1_Missense_Mutation_p.D395H	NM_001249.2	NP_001240.1	O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5	395					'de novo' posttranslational protein folding (GO:0051084)|ATP metabolic process (GO:0046034)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|positive regulation of glycolytic process (GO:0045821)|protein N-linked glycosylation (GO:0006487)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	guanosine-diphosphatase activity (GO:0004382)|uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(234;0.00394)		ACTGTGCTGTCTGCAAAGCCA	0.473																																						dbGAP											0													155.0	133.0	140.0					14																	74436730		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF039918	CCDS9825.1	14q24	2003-10-03	2003-10-03			ENSG00000187097			3367	protein-coding gene	gene with protein product		603162	"""proto-oncogene CPH"""	CD39L4, PCPH		9271669, 9676430	Standard	NM_001249		Approved	NTPDase-5	uc010tuo.2	O75356		ENST00000334696.6:c.1183G>C	14.37:g.74436730C>G	ENSP00000335246:p.Asp395His	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4C5|Q96RX0	Missense_Mutation	SNP	pfam_GDA1_CD39_NTPase	p.D395H	ENST00000334696.6	37	c.1183	CCDS9825.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.7|20.7	4.030183|4.030183	0.75504|0.75504	.|.	.|.	ENSG00000187097|ENSG00000187097	ENST00000557325;ENST00000334696|ENST00000555829	T;T|.	0.11712|.	2.75;2.75|.	5.65|5.65	3.84|3.84	0.44239|0.44239	.|.	0.249842|.	0.46145|.	D|.	0.000306|.	T|T	0.64382|0.64382	0.2593|0.2593	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	D;D|.	0.55605|.	0.972;0.965|.	P;P|.	0.55667|.	0.781;0.776|.	T|T	0.62315|0.62315	-0.6880|-0.6880	10|5	0.45353|.	T|.	0.12|.	-24.3556|-24.3556	12.2754|12.2754	0.54733|0.54733	0.0:0.8641:0.0:0.1359|0.0:0.8641:0.0:0.1359	.|.	395;395|.	O75356;G3V4I0|.	ENTP5_HUMAN;.|.	H|H	395|69	ENSP00000451810:D395H;ENSP00000335246:D395H|.	ENSP00000335246:D395H|.	D|Q	-|-	1|3	0|2	ENTPD5|ENTPD5	73506483|73506483	1.000000|1.000000	0.71417|0.71417	0.977000|0.977000	0.42913|0.42913	0.974000|0.974000	0.67602|0.67602	5.627000|5.627000	0.67784|0.67784	0.945000|0.945000	0.37605|0.37605	0.655000|0.655000	0.94253|0.94253	GAC|CAG	ENTPD5	-	pfam_GDA1_CD39_NTPase	ENSG00000187097		0.473	ENTPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTPD5	HGNC	protein_coding	OTTHUMT00000412637.1	86	0.00	0	C	NM_001249		74436730	74436730	-1	no_errors	ENST00000334696	ensembl	human	known	69_37n	missense	40	47.37	36	SNP	1.000	G
ENTPD7	57089	genome.wustl.edu	37	10	101458334	101458334	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:101458334C>G	ENST00000370489.4	+	10	1232	c.1054C>G	c.(1054-1056)Ctg>Gtg	p.L352V		NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	352						cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		CAATCCATTTCTGGATCCCTG	0.493																																						dbGAP											0													88.0	81.0	84.0					10																	101458334		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF269255	CCDS7480.1	10q23-q24	2004-07-01			ENSG00000198018	ENSG00000198018			19745	protein-coding gene	gene with protein product						11278936	Standard	NM_020354		Approved	LALP1, FLJ30978	uc001kqa.4	Q9NQZ7	OTTHUMG00000018888	ENST00000370489.4:c.1054C>G	10.37:g.101458334C>G	ENSP00000359520:p.Leu352Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RB83|B3KP21|D3DR64	Missense_Mutation	SNP	pfam_GDA1_CD39_NTPase	p.L352V	ENST00000370489.4	37	c.1054	CCDS7480.1	10	.	.	.	.	.	.	.	.	.	.	C	13.18	2.160509	0.38119	.	.	ENSG00000198018	ENST00000370489	T	0.11169	2.8	4.96	4.06	0.47325	.	0.089467	0.47455	D	0.000221	T	0.10078	0.0247	L	0.35487	1.065	0.32150	N	0.584353	B	0.32382	0.368	B	0.39152	0.292	T	0.12192	-1.0557	10	0.29301	T	0.29	-10.9176	8.6021	0.33751	0.0:0.7801:0.0:0.2199	.	352	Q9NQZ7	ENTP7_HUMAN	V	352	ENSP00000359520:L352V	ENSP00000359520:L352V	L	+	1	2	ENTPD7	101448324	0.997000	0.39634	1.000000	0.80357	0.992000	0.81027	2.982000	0.49337	1.325000	0.45301	0.655000	0.94253	CTG	ENTPD7	-	pfam_GDA1_CD39_NTPase	ENSG00000198018		0.493	ENTPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTPD7	HGNC	protein_coding	OTTHUMT00000049809.2	95	0.00	0	C	NM_020354		101458334	101458334	+1	no_errors	ENST00000370489	ensembl	human	known	69_37n	missense	42	34.38	22	SNP	0.999	G
EOMES	8320	genome.wustl.edu	37	3	27758876	27758876	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:27758876C>G	ENST00000295743.4	-	6	1949	c.1746G>C	c.(1744-1746)caG>caC	p.Q582H	EOMES_ENST00000461503.1_5'Flank|EOMES_ENST00000449599.1_Missense_Mutation_p.Q601H|EOMES_ENST00000537516.1_Missense_Mutation_p.Q306H			O95936	EOMES_HUMAN	eomesodermin	582	Required for transcription activation. {ECO:0000250}.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell differentiation involved in embryonic placenta development (GO:0060706)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|endoderm formation (GO:0001706)|endodermal cell fate specification (GO:0001714)|interferon-gamma production (GO:0032609)|mesoderm formation (GO:0001707)|mesodermal to mesenchymal transition involved in gastrulation (GO:0060809)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|olfactory bulb development (GO:0021772)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|skeletal muscle cell differentiation (GO:0035914)|stem cell maintenance (GO:0019827)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						CCATCTTCCTCTGGTAAGAAC	0.527																																						dbGAP											0													69.0	72.0	71.0					3																	27758876		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC025363	CCDS2646.1, CCDS63585.1	3p24.1	2011-06-13	2010-06-24		ENSG00000163508	ENSG00000163508		"""T-boxes"""	3372	protein-coding gene	gene with protein product	"""T-box brain2"""	604615	"""eomesodermin (Xenopus laevis) homolog"""			9888994, 9434949	Standard	NM_005442		Approved	TBR2	uc003cdy.4	O95936	OTTHUMG00000130570	ENST00000295743.4:c.1746G>C	3.37:g.27758876C>G	ENSP00000295743:p.Gln582His	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z4I2|B7ZA51|G3XAI5|Q8TAZ2|Q9UPM7	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box	p.Q601H	ENST00000295743.4	37	c.1803	CCDS2646.1	3	.	.	.	.	.	.	.	.	.	.	C	12.76	2.033592	0.35893	.	.	ENSG00000163508	ENST00000295743;ENST00000449599;ENST00000537516;ENST00000535713	D;D;D	0.85955	-2.03;-2.05;-1.74	5.05	4.18	0.49190	.	0.139797	0.53938	D	0.000050	D	0.89143	0.6631	L	0.52126	1.63	0.80722	D	1	B;D;D	0.71674	0.039;0.998;0.997	B;D;D	0.74348	0.014;0.983;0.962	D	0.88034	0.2777	10	0.35671	T	0.21	.	14.5226	0.67863	0.0:0.928:0.0:0.072	.	315;601;582	B7Z4I2;G3XAI5;O95936	.;.;EOMES_HUMAN	H	582;601;306;466	ENSP00000295743:Q582H;ENSP00000388620:Q601H;ENSP00000442097:Q306H	ENSP00000295743:Q582H	Q	-	3	2	EOMES	27733880	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	3.774000	0.55341	1.445000	0.47624	0.563000	0.77884	CAG	EOMES	-	NULL	ENSG00000163508		0.527	EOMES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EOMES	HGNC	protein_coding	OTTHUMT00000252995.1	70	0.00	0	C	NM_005442		27758876	27758876	-1	no_errors	ENST00000449599	ensembl	human	known	69_37n	missense	60	23.08	18	SNP	1.000	G
EOGT	285203	genome.wustl.edu	37	3	69047243	69047243	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:69047243G>C	ENST00000383701.3	-	10	1492	c.750C>G	c.(748-750)ttC>ttG	p.F250L	EOGT_ENST00000540955.1_Intron|EOGT_ENST00000540764.1_Missense_Mutation_p.F149L|EOGT_ENST00000295571.5_Missense_Mutation_p.F250L	NM_001278689.1	NP_001265618.1	Q5NDL2	EOGT_HUMAN	EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase	250					protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)	protein N-acetylglucosaminyltransferase activity (GO:0016262)										TGAAATCACAGAAGTGGTGAT	0.358																																						dbGAP											0													142.0	128.0	133.0					3																	69047243		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK091089	CCDS2908.1, CCDS63684.1	3p14.1	2013-10-11	2012-05-21	2012-05-21	ENSG00000163378	ENSG00000163378	2.4.1.255		28526	protein-coding gene	gene with protein product	"""AER61 glycosyltransferase"""	614789	"""chromosome 3 open reading frame 64"""	C3orf64		22310717	Standard	NM_001278689		Approved	AER61, FLJ33770	uc003dnk.3	Q5NDL2	OTTHUMG00000156279	ENST00000383701.3:c.750C>G	3.37:g.69047243G>C	ENSP00000373206:p.Phe250Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2U1|B4DFH5|L7X1M5|Q6MZY0|Q6P985|Q6ZTV0	Missense_Mutation	SNP	pfam_Glycosyltransferase_AER61	p.F250L	ENST00000383701.3	37	c.750		3	.	.	.	.	.	.	.	.	.	.	G	22.7	4.319053	0.81469	.	.	ENSG00000163378	ENST00000383701;ENST00000295571;ENST00000540764	T;T;T	0.07567	3.18;3.18;3.18	5.41	4.52	0.55395	.	0.101986	0.64402	N	0.000001	T	0.29749	0.0743	.	.	.	0.80722	D	1	P;D	0.71674	0.532;0.998	B;D	0.80764	0.286;0.994	T	0.06303	-1.0834	9	0.66056	D	0.02	.	14.837	0.70192	0.0706:0.0:0.9294:0.0	.	250;250	Q5NDL2;Q5NDL2-3	AER61_HUMAN;.	L	250;250;149	ENSP00000373206:F250L;ENSP00000295571:F250L;ENSP00000443780:F149L	ENSP00000295571:F250L	F	-	3	2	C3orf64	69129933	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	3.960000	0.56752	1.400000	0.46741	0.591000	0.81541	TTC	EOGT	-	pfam_Glycosyltransferase_AER61	ENSG00000163378		0.358	EOGT-002	KNOWN	basic|appris_principal	protein_coding	EOGT	HGNC	protein_coding	OTTHUMT00000343722.1	57	0.00	0	G	NM_173654		69047243	69047243	-1	no_errors	ENST00000383701	ensembl	human	known	69_37n	missense	60	17.81	13	SNP	1.000	C
EPB41L3	23136	genome.wustl.edu	37	18	5398129	5398129	+	Missense_Mutation	SNP	G	G	A	rs35009667		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr18:5398129G>A	ENST00000341928.2	-	17	2703	c.2363C>T	c.(2362-2364)tCt>tTt	p.S788F	EPB41L3_ENST00000427684.2_Missense_Mutation_p.S85F|EPB41L3_ENST00000342933.3_Missense_Mutation_p.S788F|EPB41L3_ENST00000542146.1_Missense_Mutation_p.S93F|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000544123.1_Missense_Mutation_p.S619F	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	788	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CTTTTCCCCAGAAGACTGCTT	0.423																																						dbGAP											0													194.0	210.0	205.0					18																	5398129		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2363C>T	18.37:g.5398129G>A	ENSP00000343158:p.Ser788Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin	p.S788F	ENST00000341928.2	37	c.2363	CCDS11838.1	18	.	.	.	.	.	.	.	.	.	.	G	20.9	4.068473	0.76301	.	.	ENSG00000082397	ENST00000341928;ENST00000544123;ENST00000427684;ENST00000542146;ENST00000342933	T;D;T;T;T	0.82619	-1.47;-1.63;-0.38;-0.43;-1.47	6.17	6.17	0.99709	.	0.439888	0.26971	N	0.021571	D	0.88876	0.6556	L	0.54323	1.7	0.46241	D	0.998941	P;P;D;P;P	0.56521	0.937;0.836;0.976;0.863;0.863	P;P;P;B;B	0.59424	0.628;0.627;0.857;0.429;0.429	D	0.88014	0.2764	10	0.62326	D	0.03	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	619;85;93;180;788	F5GX05;E7EUF8;F5H7W5;B7Z8M8;Q9Y2J2	.;.;.;.;E41L3_HUMAN	F	788;619;85;93;788	ENSP00000343158:S788F;ENSP00000441174:S619F;ENSP00000392195:S85F;ENSP00000442233:S93F;ENSP00000341138:S788F	ENSP00000343158:S788F	S	-	2	0	EPB41L3	5388129	1.000000	0.71417	0.992000	0.48379	0.928000	0.56348	7.057000	0.76669	2.941000	0.99782	0.655000	0.94253	TCT	EPB41L3	-	pirsf_Band_41_protein	ENSG00000082397		0.423	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L3	HGNC	protein_coding	OTTHUMT00000254424.1	71	0.00	0	G	NM_012307		5398129	5398129	-1	no_errors	ENST00000341928	ensembl	human	known	69_37n	missense	23	47.73	21	SNP	1.000	A
EPB41L4B	54566	genome.wustl.edu	37	9	111979286	111979286	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:111979286G>A	ENST00000374566.3	-	16	2066	c.1549C>T	c.(1549-1551)Cac>Tac	p.H517Y		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	517	His-rich.				actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TAGTTTGAgtggtgctggtgc	0.567																																						dbGAP											0													121.0	123.0	123.0					9																	111979286		2181	4279	6460	-	-	-	SO:0001583	missense	0			AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.1549C>T	9.37:g.111979286G>A	ENSP00000363694:p.His517Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Missense_Mutation	SNP	pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin	p.H517Y	ENST00000374566.3	37	c.1549	CCDS43859.1	9	.	.	.	.	.	.	.	.	.	.	G	15.19	2.759449	0.49468	.	.	ENSG00000095203	ENST00000262536;ENST00000374566	D	0.86230	-2.09	5.63	5.63	0.86233	.	0.000000	0.40908	D	0.000989	T	0.82268	0.5000	N	0.24115	0.695	0.80722	D	1	P	0.50528	0.936	P	0.45099	0.469	D	0.84862	0.0820	10	0.66056	D	0.02	.	15.2536	0.73568	0.0:0.0:1.0:0.0	.	517	Q9H329	E41LB_HUMAN	Y	202;517	ENSP00000363694:H517Y	ENSP00000262536:H202Y	H	-	1	0	EPB41L4B	111019107	1.000000	0.71417	0.997000	0.53966	0.699000	0.40488	3.872000	0.56085	2.673000	0.90976	0.650000	0.86243	CAC	EPB41L4B	-	NULL	ENSG00000095203		0.567	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L4B	HGNC	protein_coding	OTTHUMT00000053592.1	176	0.00	0	G	NM_018424		111979286	111979286	-1	no_errors	ENST00000374566	ensembl	human	known	69_37n	missense	235	21.93	66	SNP	1.000	A
EPG5	57724	genome.wustl.edu	37	18	43532580	43532580	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr18:43532580G>A	ENST00000282041.5	-	3	1072	c.1038C>T	c.(1036-1038)ttC>ttT	p.F346F		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	346					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						GATGATAGCTGAAAACTTTCA	0.428																																						dbGAP											0													87.0	85.0	86.0					18																	43532580		1896	4119	6015	-	-	-	SO:0001819	synonymous_variant	0			AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.1038C>T	18.37:g.43532580G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A2BDF3|Q9H8C8	Silent	SNP	NULL	p.F346	ENST00000282041.5	37	c.1038	CCDS11926.2	18																																																																																			EPG5	-	NULL	ENSG00000152223		0.428	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPG5	HGNC	protein_coding	OTTHUMT00000445081.1	38	0.00	0	G	NM_020964		43532580	43532580	-1	no_errors	ENST00000282041	ensembl	human	known	69_37n	silent	24	14.29	4	SNP	0.065	A
EPHA1	2041	genome.wustl.edu	37	7	143090942	143090942	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:143090942C>A	ENST00000275815.3	-	16	2604	c.2518G>T	c.(2518-2520)Gag>Tag	p.E840*	EPHA1_ENST00000458129.1_5'Flank	NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	840	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				TACCCATCCTCAATGCTCTTC	0.572																																						dbGAP											0													70.0	77.0	75.0					7																	143090942		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3385	protein-coding gene	gene with protein product		179610	"""EphA1"""	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.2518G>T	7.37:g.143090942C>A	ENSP00000275815:p.Glu840*	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3V3|B5A966|B5A967|Q15405	Nonsense_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,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_SAM/pointed,superfamily_Fibronectin_type3,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.E840*	ENST00000275815.3	37	c.2518	CCDS5884.1	7	.	.	.	.	.	.	.	.	.	.	C	40	8.300134	0.98750	.	.	ENSG00000146904	ENST00000275815	.	.	.	5.16	4.28	0.50868	.	0.102781	0.42548	D	0.000690	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.7995	0.63190	0.0:0.9265:0.0:0.0735	.	.	.	.	X	840	.	ENSP00000275815:E840X	E	-	1	0	EPHA1	142801064	0.985000	0.35326	0.980000	0.43619	0.983000	0.72400	2.381000	0.44336	1.416000	0.47057	0.655000	0.94253	GAG	EPHA1	-	pirsf_Tyr_kinase_ephrin_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,pfscan_Prot_kinase_cat_dom	ENSG00000146904		0.572	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA1	HGNC	protein_coding	OTTHUMT00000342154.1	44	0.00	0	C			143090942	143090942	-1	no_errors	ENST00000275815	ensembl	human	known	69_37n	nonsense	57	18.57	13	SNP	0.988	A
EPHA2	1969	genome.wustl.edu	37	1	16456789	16456789	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:16456789G>A	ENST00000358432.5	-	15	2755	c.2601C>T	c.(2599-2601)atC>atT	p.I867I		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	867	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)	p.I867I(1)		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)	GGATGCTGACGATGTCAGCGA	0.622																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											87.0	81.0	83.0					1																	16456789		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			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.2601C>T	1.37:g.16456789G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B5A968|Q8N3Z2	Silent	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.I867	ENST00000358432.5	37	c.2601	CCDS169.1	1																																																																																			EPHA2	-	pirsf_Tyr_kinase_ephrin_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,pfscan_Prot_kinase_cat_dom	ENSG00000142627		0.622	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA2	HGNC	protein_coding	OTTHUMT00000026322.1	93	0.00	0	G	NM_004431		16456789	16456789	-1	no_errors	ENST00000358432	ensembl	human	known	69_37n	silent	58	30.12	25	SNP	0.905	A
EPHA4	2043	genome.wustl.edu	37	2	222428888	222428888	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:222428888G>C	ENST00000281821.2	-	3	427	c.386C>G	c.(385-387)tCa>tGa	p.S129*	EPHA4_ENST00000409938.1_Nonsense_Mutation_p.S129*|EPHA4_ENST00000392071.4_Nonsense_Mutation_p.S78*|EPHA4_ENST00000409854.1_Nonsense_Mutation_p.S129*	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	129	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GTCGTTGTCTGATTCATAGTA	0.448																																						dbGAP											0													168.0	154.0	159.0					2																	222428888		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3388	protein-coding gene	gene with protein product		602188	"""EphA4"""	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.386C>G	2.37:g.222428888G>C	ENSP00000281821:p.Ser129*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2P1|B2R601|B7Z6Q8|Q2M380	Nonsense_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_2,pfam_SAM_type1,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.S129*	ENST00000281821.2	37	c.386	CCDS2447.1	2	.	.	.	.	.	.	.	.	.	.	G	32	5.139515	0.94560	.	.	ENSG00000116106	ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071;ENST00000419964;ENST00000541600	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	129;129;129;78;70;129	.	ENSP00000281821:S129X	S	-	2	0	EPHA4	222137132	1.000000	0.71417	0.990000	0.47175	0.978000	0.69477	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	TCA	EPHA4	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom	ENSG00000116106		0.448	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA4	HGNC	protein_coding	OTTHUMT00000256836.3	101	0.00	0	G			222428888	222428888	-1	no_errors	ENST00000281821	ensembl	human	known	69_37n	nonsense	98	19.01	23	SNP	1.000	C
EPHA5	2044	genome.wustl.edu	37	4	66467411	66467411	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:66467411G>C	ENST00000273854.3	-	3	1458	c.858C>G	c.(856-858)atC>atG	p.I286M	EPHA5_ENST00000432638.2_Missense_Mutation_p.I286M|EPHA5_ENST00000511294.1_Missense_Mutation_p.I286M|EPHA5_ENST00000354839.4_Missense_Mutation_p.I286M	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	286	Cys-rich.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TGCATTTCCCGATGGGCACCA	0.532										TSP Lung(17;0.13)																												dbGAP											0													73.0	77.0	76.0					4																	66467411		2203	4300	6503	-	-	-	SO:0001583	missense	0			L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.858C>G	4.37:g.66467411G>C	ENSP00000273854:p.Ile286Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z3F2	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.I286M	ENST00000273854.3	37	c.858	CCDS3513.1	4	.	.	.	.	.	.	.	.	.	.	G	15.98	2.993776	0.54041	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;T;T;T	0.74526	1.59;-0.85;1.59;-0.75	5.93	-2.45	0.06481	Tyrosine-protein kinase, receptor class V, conserved site (1);	0.000000	0.64402	D	0.000007	D	0.82572	0.5066	M	0.76328	2.33	0.40929	D	0.984379	D;D;D;D	0.89917	0.997;1.0;0.998;1.0	D;D;D;D	0.97110	0.969;1.0;0.986;0.999	T	0.82472	-0.0440	10	0.62326	D	0.03	.	13.1806	0.59653	0.6452:0.0:0.3548:0.0	.	286;286;286;286	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	M	286	ENSP00000273854:I286M;ENSP00000389208:I286M;ENSP00000346899:I286M;ENSP00000427638:I286M	ENSP00000273854:I286M	I	-	3	3	EPHA5	66150006	0.022000	0.18835	0.984000	0.44739	0.950000	0.60333	-0.522000	0.06237	-0.378000	0.07918	0.655000	0.94253	ATC	EPHA5	-	pirsf_Tyr_kinase_ephrin_rcpt	ENSG00000145242		0.532	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPHA5	HGNC	protein_coding	OTTHUMT00000251388.2	80	0.00	0	G	NM_004439		66467411	66467411	-1	no_errors	ENST00000273854	ensembl	human	known	69_37n	missense	56	22.22	16	SNP	0.909	C
EPHA6	285220	genome.wustl.edu	37	3	96706413	96706413	+	Silent	SNP	C	C	T	rs201856782		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:96706413C>T	ENST00000389672.5	+	3	728	c.690C>T	c.(688-690)caC>caT	p.H230H	EPHA6_ENST00000470610.2_Silent_p.H230H|EPHA6_ENST00000542517.1_Silent_p.H136H	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	136						integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						ATGAGTCCCACGGAATTAAAT	0.398													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17947	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													145.0	148.0	147.0					3																	96706413		1870	4111	5981	-	-	-	SO:0001819	synonymous_variant	0			AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.690C>T	3.37:g.96706413C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D6RAL5	Missense_Mutation	SNP	pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom	p.R175W	ENST00000389672.5	37	c.523	CCDS46876.1	3	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	4.447	0.082726	0.08533	.	.	ENSG00000080224	ENST00000506569	.	.	.	5.74	-4.88	0.03113	.	.	.	.	.	T	0.61640	0.2363	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62623	-0.6815	4	.	.	.	.	13.0425	0.58908	0.0:0.3585:0.0:0.6415	.	.	.	.	W	175	.	.	R	+	1	2	EPHA6	98189103	0.895000	0.30542	0.968000	0.41197	0.833000	0.47200	-0.021000	0.12504	-0.743000	0.04784	-2.173000	0.00322	CGG	EPHA6	-	pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom	ENSG00000080224		0.398	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	EPHA6	HGNC	protein_coding	OTTHUMT00000353845.3	54	0.00	0	C	NM_001080448		96706413	96706413	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000506569	ensembl	human	putative	69_37n	missense	77	14.44	13	SNP	0.975	T
EPHA7	2045	genome.wustl.edu	37	6	93973611	93973611	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:93973611C>T	ENST00000369303.4	-	9	1949	c.1765G>A	c.(1765-1767)Gac>Aac	p.D589N		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	589					brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CCTTCTTGGTCAGCTTTGCTA	0.323																																						dbGAP											0													119.0	118.0	118.0					6																	93973611		2203	4300	6503	-	-	-	SO:0001583	missense	0			L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.1765G>A	6.37:g.93973611C>T	ENSP00000358309:p.Asp589Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	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_Tyr-kin_ephrin_A/B_rcpt-like,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.D589N	ENST00000369303.4	37	c.1765	CCDS5031.1	6	.	.	.	.	.	.	.	.	.	.	C	16.10	3.027986	0.54790	.	.	ENSG00000135333	ENST00000369303	T	0.10288	2.89	5.73	5.73	0.89815	.	0.233115	0.42821	D	0.000652	T	0.11324	0.0276	L	0.49126	1.545	0.80722	D	1	D;P;B	0.54964	0.969;0.491;0.358	P;B;B	0.49451	0.611;0.076;0.035	T	0.08827	-1.0703	10	0.25106	T	0.35	.	19.8949	0.96954	0.0:1.0:0.0:0.0	.	589;584;589	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	N	589	ENSP00000358309:D589N	ENSP00000358309:D589N	D	-	1	0	EPHA7	94030332	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.806000	0.62569	2.704000	0.92352	0.650000	0.86243	GAC	EPHA7	-	pirsf_Tyr_kinase_ephrin_rcpt	ENSG00000135333		0.323	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA7	HGNC	protein_coding	OTTHUMT00000041545.1	162	0.00	0	C			93973611	93973611	-1	no_errors	ENST00000369303	ensembl	human	known	69_37n	missense	103	18.25	23	SNP	1.000	T
EPHA8	2046	genome.wustl.edu	37	1	22903006	22903006	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:22903006G>A	ENST00000166244.3	+	3	528	c.456G>A	c.(454-456)gaG>gaA	p.E152E	EPHA8_ENST00000374644.4_Silent_p.E152E|EPHA8_ENST00000538803.1_Silent_p.E152E	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	152	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CGGCCGACGAGAGCTTCACAG	0.612																																						dbGAP											0													93.0	79.0	84.0					1																	22903006		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.456G>A	1.37:g.22903006G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Silent	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,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.E152	ENST00000166244.3	37	c.456	CCDS225.1	1																																																																																			EPHA8	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom	ENSG00000070886		0.612	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA8	HGNC	protein_coding	OTTHUMT00000008085.1	49	0.00	0	G	NM_020526		22903006	22903006	+1	no_errors	ENST00000166244	ensembl	human	known	69_37n	silent	22	43.59	17	SNP	1.000	A
EPHA8	2046	genome.wustl.edu	37	1	22927462	22927462	+	Silent	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:22927462C>A	ENST00000166244.3	+	15	2682	c.2610C>A	c.(2608-2610)ctC>ctA	p.L870L		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	870	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TGCACCAGCTCATGCTCGACT	0.672																																						dbGAP											0													58.0	57.0	58.0					1																	22927462		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.2610C>A	1.37:g.22927462C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Silent	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,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.L870	ENST00000166244.3	37	c.2610	CCDS225.1	1																																																																																			EPHA8	-	pirsf_Tyr_kinase_ephrin_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	ENSG00000070886		0.672	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA8	HGNC	protein_coding	OTTHUMT00000008085.1	21	0.00	0	C	NM_020526		22927462	22927462	+1	no_errors	ENST00000166244	ensembl	human	known	69_37n	silent	15	25.00	5	SNP	1.000	A
EPHB3	2049	genome.wustl.edu	37	3	184295792	184295792	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:184295792C>T	ENST00000330394.2	+	8	2198	c.1746C>T	c.(1744-1746)ctC>ctT	p.L582L	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	582					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			TCGTCTGCCTCAGGTACTCCC	0.627																																						dbGAP											0													116.0	105.0	109.0					3																	184295792		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3394	protein-coding gene	gene with protein product		601839	"""EphB3"""	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.1746C>T	3.37:g.184295792C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z740	Silent	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_Tyr-kin_ephrin_A/B_rcpt-like,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.L582	ENST00000330394.2	37	c.1746	CCDS3268.1	3																																																																																			EPHB3	-	pirsf_Tyr_kinase_ephrin_rcpt	ENSG00000182580		0.627	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB3	HGNC	protein_coding	OTTHUMT00000345413.1	80	0.00	0	C	NM_004443		184295792	184295792	+1	no_errors	ENST00000330394	ensembl	human	known	69_37n	silent	71	16.47	14	SNP	1.000	T
EPHX2	2053	genome.wustl.edu	37	8	27399056	27399056	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:27399056G>A	ENST00000521400.1	+	16	1876	c.1446G>A	c.(1444-1446)cgG>cgA	p.R482R	EPHX2_ENST00000521780.1_Silent_p.R416R|EPHX2_ENST00000517536.1_Silent_p.R299R|EPHX2_ENST00000518379.1_Silent_p.R450R|EPHX2_ENST00000380476.3_Silent_p.R429R	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	482	Epoxide hydrolase.				arachidonic acid metabolic process (GO:0019369)|cellular calcium ion homeostasis (GO:0006874)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|inflammatory response (GO:0006954)|phospholipid dephosphorylation (GO:0046839)|positive regulation of gene expression (GO:0010628)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|regulation of blood pressure (GO:0008217)|regulation of cholesterol metabolic process (GO:0090181)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|stilbene catabolic process (GO:0046272)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	10-hydroxy-9-(phosphonooxy)octadecanoate phosphatase activity (GO:0033885)|epoxide hydrolase activity (GO:0004301)|lipid phosphatase activity (GO:0042577)|magnesium ion binding (GO:0000287)|phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxic substance binding (GO:0015643)			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)		GCTTGGGACGGAAGGTGAGTG	0.562																																						dbGAP											0													123.0	103.0	110.0					8																	27399056		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L05779	CCDS6060.1, CCDS59097.1, CCDS59098.1	8p21	2010-04-23			ENSG00000120915	ENSG00000120915	3.3.2.10		3402	protein-coding gene	gene with protein product		132811					Standard	NM_001979		Approved		uc003xfu.4	P34913	OTTHUMG00000102115	ENST00000521400.1:c.1446G>A	8.37:g.27399056G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2Z3B1|B3KTU8|B3KUA0|G3V134|J3KPH7|Q16764|Q9HBJ1|Q9HBJ2	Silent	SNP	pfam_AB_hydrolase_1,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,prints_Epox_hydrolase-like,prints_Haloacid_DH/epoxide_hydro,prints_AB_hydrolase_1,tigrfam_HAD-SF_ppase_IA/epoxid_hydro_N,tigrfam_HAD-SF_hydro_IA_v3	p.R482	ENST00000521400.1	37	c.1446	CCDS6060.1	8																																																																																			EPHX2	-	pfam_AB_hydrolase_1	ENSG00000120915		0.562	EPHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHX2	HGNC	protein_coding	OTTHUMT00000219954.4	114	0.00	0	G			27399056	27399056	+1	no_errors	ENST00000521400	ensembl	human	known	69_37n	silent	33	45.90	28	SNP	0.923	A
EPM2AIP1	9852	genome.wustl.edu	37	3	37034113	37034113	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:37034113C>G	ENST00000322716.5	-	1	682	c.456G>C	c.(454-456)caG>caC	p.Q152H	MLH1_ENST00000231790.2_5'Flank|MLH1_ENST00000458205.2_5'Flank|MLH1_ENST00000455445.2_5'Flank|MLH1_ENST00000539477.1_5'Flank|MLH1_ENST00000536378.1_5'Flank|MLH1_ENST00000435176.1_5'Flank	NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	152					positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|response to insulin (GO:0032868)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						TCAGGATCCTCTGCCTTGTGA	0.498																																						dbGAP											0													126.0	130.0	129.0					3																	37034113		2066	4199	6265	-	-	-	SO:0001583	missense	0			AB018309	CCDS46790.1	3p22.1	2003-03-26							19735	protein-coding gene	gene with protein product		607911					Standard	NM_014805		Approved	KIAA0766, FLJ11207	uc003cgk.3	Q7L775		ENST00000322716.5:c.456G>C	3.37:g.37034113C>G	ENSP00000406027:p.Gln152His	Somatic		WXS	Illumina GAIIx	Phase_IV	O94866|Q9H3L3	Missense_Mutation	SNP	NULL	p.Q152H	ENST00000322716.5	37	c.456	CCDS46790.1	3	.	.	.	.	.	.	.	.	.	.	C	9.209	1.030488	0.19512	.	.	ENSG00000178567	ENST00000322716	T	0.14266	2.52	5.26	2.4	0.29515	.	.	.	.	.	T	0.12092	0.0294	L	0.46157	1.445	0.27301	N	0.957571	B	0.09022	0.002	B	0.09377	0.004	T	0.18366	-1.0339	9	0.48119	T	0.1	-11.2707	6.2332	0.20747	0.0:0.5206:0.3131:0.1662	.	152	Q7L775	EPMIP_HUMAN	H	152	ENSP00000406027:Q152H	ENSP00000406027:Q152H	Q	-	3	2	EPM2AIP1	37009117	0.687000	0.27671	0.998000	0.56505	0.547000	0.35210	0.344000	0.19962	0.751000	0.32900	0.563000	0.77884	CAG	EPM2AIP1	-	NULL	ENSG00000178567		0.498	EPM2AIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPM2AIP1	HGNC	protein_coding	OTTHUMT00000470593.1	62	0.00	0	C	NM_014805		37034113	37034113	-1	no_errors	ENST00000322716	ensembl	human	known	69_37n	missense	67	19.28	16	SNP	0.984	G
EPRS	2058	genome.wustl.edu	37	1	220156132	220156132	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:220156132G>A	ENST00000366923.3	-	23	3624	c.3355C>T	c.(3355-3357)Cgt>Tgt	p.R1119C		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	1119	Proline--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)	CTAGTAGGACGAATGGCAATT	0.398																																						dbGAP											0													150.0	149.0	149.0					1																	220156132		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.3355C>T	1.37:g.220156132G>A	ENSP00000355890:p.Arg1119Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_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_synth_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_synth_II_C,prints_Glu/Gln-tRNA-synth_Ib,prints_Pro-tRNA-synth_IIa,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_Pro-tRNA-synth_IIa_arc-type,tigrfam_Glu-tRNA-synth_Ib_arc/euk	p.R1119C	ENST00000366923.3	37	c.3355	CCDS31027.1	1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.240196	0.79912	.	.	ENSG00000136628	ENST00000366923	T	0.73575	-0.76	5.66	5.66	0.87406	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.099482	0.64402	D	0.000002	D	0.93549	0.7941	H	0.99800	4.79	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96372	0.9274	10	0.87932	D	0	-6.8977	19.7873	0.96444	0.0:0.0:1.0:0.0	.	1119	P07814	SYEP_HUMAN	C	1119	ENSP00000355890:R1119C	ENSP00000355890:R1119C	R	-	1	0	EPRS	218222755	1.000000	0.71417	0.995000	0.50966	0.999000	0.98932	5.969000	0.70422	2.683000	0.91414	0.644000	0.83932	CGT	EPRS	-	pfam_aa-tRNA-synt_IIb_cons-dom,prints_Pro-tRNA-synth_IIa,pfscan_aa-tRNA-synth_II,tigrfam_Pro-tRNA-synth_IIa_arc-type	ENSG00000136628		0.398	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPRS	HGNC	protein_coding	OTTHUMT00000091133.2	113	0.88	1	G	NM_004446		220156132	220156132	-1	no_errors	ENST00000366923	ensembl	human	known	69_37n	missense	93	21.85	26	SNP	1.000	A
EPRS	2058	genome.wustl.edu	37	1	220160575	220160575	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:220160575C>T	ENST00000366923.3	-	20	3216	c.2947G>A	c.(2947-2949)Gat>Aat	p.D983N	snoU13_ENST00000459217.1_RNA	NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	983	Charged.				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)	CTTTGGCCATCATTTTGTTTC	0.438																																						dbGAP											0													111.0	103.0	106.0					1																	220160575		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.2947G>A	1.37:g.220160575C>T	ENSP00000355890:p.Asp983Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_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_synth_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_synth_II_C,prints_Glu/Gln-tRNA-synth_Ib,prints_Pro-tRNA-synth_IIa,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_Pro-tRNA-synth_IIa_arc-type,tigrfam_Glu-tRNA-synth_Ib_arc/euk	p.D983N	ENST00000366923.3	37	c.2947	CCDS31027.1	1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.661111	0.67700	.	.	ENSG00000136628	ENST00000366923	T	0.06687	3.27	5.9	5.9	0.94986	.	0.434051	0.28393	N	0.015511	T	0.09379	0.0231	L	0.51422	1.61	0.39566	D	0.969206	B	0.30511	0.282	B	0.23574	0.047	T	0.14364	-1.0475	10	0.30078	T	0.28	-24.584	13.4664	0.61256	0.0:0.9288:0.0:0.0712	.	983	P07814	SYEP_HUMAN	N	983	ENSP00000355890:D983N	ENSP00000355890:D983N	D	-	1	0	EPRS	218227198	0.996000	0.38824	0.949000	0.38748	0.994000	0.84299	4.446000	0.60014	2.793000	0.96121	0.563000	0.77884	GAT	EPRS	-	NULL	ENSG00000136628		0.438	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPRS	HGNC	protein_coding	OTTHUMT00000091133.2	173	0.00	0	C	NM_004446		220160575	220160575	-1	no_errors	ENST00000366923	ensembl	human	known	69_37n	missense	141	29.85	60	SNP	1.000	T
EPX	8288	genome.wustl.edu	37	17	56274475	56274475	+	Missense_Mutation	SNP	G	G	A	rs35832094	byFrequency	TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:56274475G>A	ENST00000225371.5	+	7	1087	c.977G>A	c.(976-978)cGc>cAc	p.R326H		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	326			R -> H (in dbSNP:rs35832094). {ECO:0000269|PubMed:14657871}.|R -> L. {ECO:0000269|PubMed:14657871}.|R -> P (in dbSNP:rs35832094). {ECO:0000269|Ref.2}.		defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	CTGCGGCTCCGCAACCGGACC	0.607																																						dbGAP											0													124.0	117.0	119.0					17																	56274475		2203	4300	6503	-	-	-	SO:0001583	missense	0			M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.977G>A	17.37:g.56274475G>A	ENSP00000225371:p.Arg326His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4TVP3	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.R326H	ENST00000225371.5	37	c.977	CCDS11602.1	17	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	17.71	3.455971	0.63401	.	.	ENSG00000121053	ENST00000225371	D	0.88431	-2.38	4.86	4.86	0.63082	.	0.042638	0.85682	D	0.000000	D	0.96904	0.8989	H	0.98786	4.33	0.58432	D	0.999995	D	0.89917	1.0	D	0.83275	0.996	D	0.98496	1.0612	10	0.87932	D	0	-14.8386	15.8515	0.78934	0.0:0.0:1.0:0.0	.	326	P11678	PERE_HUMAN	H	326	ENSP00000225371:R326H	ENSP00000225371:R326H	R	+	2	0	EPX	53629474	0.999000	0.42202	0.100000	0.21137	0.070000	0.16714	7.938000	0.87678	2.408000	0.81797	0.462000	0.41574	CGC	EPX	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal	ENSG00000121053		0.607	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPX	HGNC	protein_coding	OTTHUMT00000443367.1	90	0.00	0	G	NM_000502		56274475	56274475	+1	no_errors	ENST00000225371	ensembl	human	known	69_37n	missense	231	13.38	36	SNP	0.732	A
EPYC	1833	genome.wustl.edu	37	12	91365729	91365729	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:91365729C>T	ENST00000261172.3	-	5	642	c.550G>A	c.(550-552)Gaa>Aaa	p.E184K		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	184					female pregnancy (GO:0007565)	proteinaceous extracellular matrix (GO:0005578)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						AATGCATCTTCATCAATCTCA	0.353																																						dbGAP											0													63.0	58.0	60.0					12																	91365729		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF031658	CCDS31870.1	12q21	2010-03-19	2006-11-21	2006-11-21	ENSG00000083782	ENSG00000083782		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	3053	protein-coding gene	gene with protein product	"""epiphycan proteoglycan"""	601657	"""dermatan sulphate proteoglycan 3"", ""dermatan sulfate proteoglycan 3"""	DSPG3		8975717	Standard	NM_004950		Approved	Pg-Lb, SLRR3B	uc001tbk.3	Q99645	OTTHUMG00000170072	ENST00000261172.3:c.550G>A	12.37:g.91365729C>T	ENSP00000261172:p.Glu184Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3M7|Q8NEJ5	Missense_Mutation	SNP	pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.E184K	ENST00000261172.3	37	c.550	CCDS31870.1	12	.	.	.	.	.	.	.	.	.	.	C	19.01	3.744774	0.69418	.	.	ENSG00000083782	ENST00000261172;ENST00000551767	T;T	0.02421	4.3;4.3	6.03	6.03	0.97812	.	0.182765	0.64402	D	0.000017	T	0.03136	0.0092	N	0.19112	0.55	0.51482	D	0.999929	B	0.32324	0.364	B	0.34722	0.188	T	0.63314	-0.6665	10	0.29301	T	0.29	.	15.6094	0.76704	0.0:0.933:0.0:0.067	.	184	Q99645	EPYC_HUMAN	K	184	ENSP00000261172:E184K;ENSP00000448272:E184K	ENSP00000261172:E184K	E	-	1	0	EPYC	89889860	1.000000	0.71417	1.000000	0.80357	0.552000	0.35366	5.448000	0.66612	2.861000	0.98227	0.655000	0.94253	GAA	EPYC	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000083782		0.353	EPYC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPYC	HGNC	protein_coding	OTTHUMT00000407146.2	102	0.00	0	C	NM_004950		91365729	91365729	-1	no_errors	ENST00000261172	ensembl	human	known	69_37n	missense	94	11.32	12	SNP	1.000	T
ERAP1	51752	genome.wustl.edu	37	5	96119636	96119636	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:96119636G>C	ENST00000443439.2	-	14	2158	c.2092C>G	c.(2092-2094)Caa>Gaa	p.Q698E	CTD-2260A17.1_ENST00000602972.1_RNA|ERAP1_ENST00000514604.1_5'UTR|CTD-2260A17.1_ENST00000512856.1_RNA|ERAP1_ENST00000296754.3_Missense_Mutation_p.Q698E	NM_001040458.1|NM_001198541.1	NP_001035548.1|NP_001185470.1	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1	698					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)		ACCTTGAATTGAGTTTCCACT	0.323																																						dbGAP											0													74.0	69.0	71.0					5																	96119636		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.2092C>G	5.37:g.96119636G>C	ENSP00000406304:p.Gln698Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	O60278|Q6UWY6|Q8NEL4|Q8TAD0|Q9UHF8|Q9UKY2	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.Q698E	ENST00000443439.2	37	c.2092	CCDS47250.1	5	.	.	.	.	.	.	.	.	.	.	G	15.41	2.823934	0.50739	.	.	ENSG00000164307	ENST00000296754;ENST00000443439;ENST00000414384	T;T	0.04970	3.52;3.52	5.84	4.95	0.65309	.	0.080701	0.51477	D	0.000091	T	0.10465	0.0256	M	0.75447	2.3	0.48341	D	0.999637	B;B;B	0.14438	0.003;0.01;0.008	B;B;B	0.16722	0.006;0.016;0.009	T	0.09357	-1.0678	10	0.11182	T	0.66	.	15.6931	0.77469	0.0:0.1377:0.8623:0.0	.	698;698;698	A8K6H1;Q9NZ08;Q9NZ08-2	.;ERAP1_HUMAN;.	E	698	ENSP00000296754:Q698E;ENSP00000406304:Q698E	ENSP00000296754:Q698E	Q	-	1	0	ERAP1	96145392	1.000000	0.71417	0.956000	0.39512	0.994000	0.84299	6.163000	0.71880	1.436000	0.47453	0.655000	0.94253	CAA	ERAP1	-	NULL	ENSG00000164307		0.323	ERAP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ERAP1	HGNC	protein_coding	OTTHUMT00000370699.1	105	0.00	0	G	NM_016442		96119636	96119636	-1	no_errors	ENST00000296754	ensembl	human	known	69_37n	missense	75	19.35	18	SNP	1.000	C
ERBB2IP	55914	genome.wustl.edu	37	5	65349721	65349721	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:65349721C>T	ENST00000284037.5	+	21	2964	c.2575C>T	c.(2575-2577)Cag>Tag	p.Q859*	ERBB2IP_ENST00000380938.2_Nonsense_Mutation_p.Q859*|ERBB2IP_ENST00000380943.2_Nonsense_Mutation_p.Q859*|ERBB2IP_ENST00000508515.1_Nonsense_Mutation_p.Q859*|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000506030.1_Nonsense_Mutation_p.Q859*|ERBB2IP_ENST00000380936.1_Nonsense_Mutation_p.Q859*|ERBB2IP_ENST00000380935.1_Nonsense_Mutation_p.Q859*|ERBB2IP_ENST00000511297.1_Nonsense_Mutation_p.Q855*|ERBB2IP_ENST00000380939.2_Nonsense_Mutation_p.Q859*	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	859					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		TCTCTCCCCTCAGAAAAGTGG	0.398																																						dbGAP											0													174.0	174.0	174.0					5																	65349721		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"""densin-180-like protein"", ""ERBB2-interacting protein"""	606944	"""erbb2-interacting protein"""			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.2575C>T	5.37:g.65349721C>T	ENSP00000284037:p.Gln859*	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Nonsense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.Q859*	ENST00000284037.5	37	c.2575	CCDS58953.1	5	.	.	.	.	.	.	.	.	.	.	C	40	8.430477	0.98808	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515	.	.	.	5.69	5.69	0.88448	.	0.113903	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	15.3007	0.73949	0.0:0.8605:0.1395:0.0	.	.	.	.	X	859;859;859;859;859;859;855;859;859	.	ENSP00000284037:Q859X	Q	+	1	0	ERBB2IP	65385477	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	3.682000	0.54656	2.673000	0.90976	0.563000	0.77884	CAG	ERBB2IP	-	NULL	ENSG00000112851		0.398	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	ERBB2IP	HGNC	protein_coding	OTTHUMT00000215070.1	45	0.00	0	C	NM_018695		65349721	65349721	+1	no_errors	ENST00000284037	ensembl	human	known	69_37n	nonsense	34	24.44	11	SNP	1.000	T
ERAP2	64167	genome.wustl.edu	37	5	96237363	96237363	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:96237363G>C	ENST00000437043.3	+	11	2437	c.1726G>C	c.(1726-1728)Gaa>Caa	p.E576Q	ERAP2_ENST00000379904.4_Missense_Mutation_p.E531Q|CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000515095.1_3'UTR	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	576					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)|regulation of blood pressure (GO:0008217)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		GGAAGACCCTGAATGGAGGGC	0.517																																						dbGAP											0													38.0	42.0	41.0					5																	96237363		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF191545	CCDS4086.1	5q15	2007-11-21			ENSG00000164308	ENSG00000164308			29499	protein-coding gene	gene with protein product	"""leukocyte-derived arginine aminopeptidase"""	609497				12799365, 15908954	Standard	NM_022350		Approved	L-RAP, LRAP	uc003kmt.3	Q6P179	OTTHUMG00000128718	ENST00000437043.3:c.1726G>C	5.37:g.96237363G>C	ENSP00000400376:p.Glu576Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z5K1|Q8TD32|Q8WVJ4|Q9HBX2	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.E576Q	ENST00000437043.3	37	c.1726	CCDS4086.1	5	.	.	.	.	.	.	.	.	.	.	G	12.84	2.057903	0.36277	.	.	ENSG00000164308	ENST00000437043;ENST00000510373;ENST00000379904	T;T;T	0.01854	4.93;4.6;4.93	4.53	1.27	0.21489	.	0.883622	0.09484	N	0.795912	T	0.03305	0.0096	M	0.63208	1.945	0.09310	N	0.999999	B;B	0.25390	0.125;0.01	B;B	0.28784	0.094;0.017	T	0.47535	-0.9110	10	0.18710	T	0.47	.	7.2484	0.26135	0.0:0.3555:0.4622:0.1823	.	531;576	Q6P179-3;Q6P179	.;ERAP2_HUMAN	Q	576;576;531	ENSP00000400376:E576Q;ENSP00000421175:E576Q;ENSP00000369235:E531Q	ENSP00000369235:E531Q	E	+	1	0	ERAP2	96263119	0.011000	0.17503	0.146000	0.22360	0.656000	0.38851	0.070000	0.14573	0.371000	0.24564	0.551000	0.68910	GAA	ERAP2	-	NULL	ENSG00000164308		0.517	ERAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERAP2	HGNC	protein_coding	OTTHUMT00000250623.2	39	0.00	0	G	NM_022350		96237363	96237363	+1	no_errors	ENST00000437043	ensembl	human	known	69_37n	missense	29	14.71	5	SNP	0.003	C
ERBB3	2065	genome.wustl.edu	37	12	56493763	56493763	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:56493763C>A	ENST00000267101.3	+	25	3519	c.3079C>A	c.(3079-3081)Ctg>Atg	p.L1027M	ERBB3_ENST00000553131.1_Missense_Mutation_p.L268M|ERBB3_ENST00000415288.2_Missense_Mutation_p.L968M|ERBB3_ENST00000549832.1_Missense_Mutation_p.L147M|ERBB3_ENST00000450146.2_Missense_Mutation_p.L384M|RP11-603J24.9_ENST00000548861.1_5'Flank	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	1027					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			AACCACCACACTGGGCTCCGC	0.522																																						dbGAP											0													119.0	125.0	123.0					12																	56493763		2203	4300	6503	-	-	-	SO:0001583	missense	0			M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.3079C>A	12.37:g.56493763C>A	ENSP00000267101:p.Leu1027Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_cat_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.L1027M	ENST00000267101.3	37	c.3079	CCDS31833.1	12	.	.	.	.	.	.	.	.	.	.	C	9.335	1.061626	0.19987	.	.	ENSG00000065361	ENST00000267101;ENST00000450146;ENST00000415288;ENST00000550070;ENST00000553131;ENST00000549832	T;T;T;T;T	0.79940	-1.15;-1.09;-1.14;-1.32;-1.08	5.65	3.84	0.44239	.	0.240709	0.29293	N	0.012568	T	0.80586	0.4651	N	0.19112	0.55	0.37290	D	0.908229	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.85130	0.997;0.997;0.994	T	0.81430	-0.0936	10	0.42905	T	0.14	.	10.539	0.45022	0.0:0.8491:0.0:0.1509	.	968;147;1027	P21860-4;B3KWG5;P21860	.;.;ERBB3_HUMAN	M	1027;384;968;150;268;147	ENSP00000267101:L1027M;ENSP00000399178:L384M;ENSP00000408340:L968M;ENSP00000449129:L268M;ENSP00000448729:L147M	ENSP00000267101:L1027M	L	+	1	2	ERBB3	54780030	0.421000	0.25465	0.925000	0.36789	0.250000	0.25880	2.337000	0.43947	0.951000	0.37770	-0.793000	0.03317	CTG	ERBB3	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt	ENSG00000065361		0.522	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB3	HGNC	protein_coding	OTTHUMT00000407619.3	69	0.00	0	C			56493763	56493763	+1	no_errors	ENST00000267101	ensembl	human	known	69_37n	missense	63	18.18	14	SNP	0.995	A
ERBB4	2066	genome.wustl.edu	37	2	212251629	212251629	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:212251629C>G	ENST00000342788.4	-	27	3740	c.3430G>C	c.(3430-3432)Gag>Cag	p.E1144Q	ERBB4_ENST00000436443.1_Missense_Mutation_p.E1128Q|ERBB4_ENST00000402597.1_Missense_Mutation_p.E1134Q	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1144					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|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)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	TCATCCAGCTCTCCTCGTGGG	0.527										TSP Lung(8;0.080)																												dbGAP											0													163.0	151.0	155.0					2																	212251629		2203	4300	6503	-	-	-	SO:0001583	missense	0			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.3430G>C	2.37:g.212251629C>G	ENSP00000342235:p.Glu1144Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	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.E1144Q	ENST00000342788.4	37	c.3430	CCDS2394.1	2	.	.	.	.	.	.	.	.	.	.	C	15.36	2.810666	0.50421	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	T;T;T	0.76578	-1.01;-1.03;-1.01	5.6	5.6	0.85130	.	0.174945	0.49916	D	0.000132	T	0.68888	0.3050	N	0.22421	0.69	0.45427	D	0.998402	P;B;P;P	0.37864	0.61;0.165;0.61;0.475	B;B;B;B	0.35971	0.215;0.037;0.215;0.107	T	0.71513	-0.4570	10	0.52906	T	0.07	.	19.6171	0.95638	0.0:1.0:0.0:0.0	.	1118;1134;1128;1144	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	Q	1144;1128;1134	ENSP00000342235:E1144Q;ENSP00000403204:E1128Q;ENSP00000385565:E1134Q	ENSP00000342235:E1144Q	E	-	1	0	ERBB4	211959874	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.396000	0.66297	2.638000	0.89438	0.462000	0.41574	GAG	ERBB4	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt	ENSG00000178568		0.527	ERBB4-001	KNOWN	basic|CCDS	protein_coding	ERBB4	HGNC	protein_coding	OTTHUMT00000256597.1	129	0.00	0	C	NM_001042599		212251629	212251629	-1	no_errors	ENST00000342788	ensembl	human	known	69_37n	missense	142	14.97	25	SNP	1.000	G
ERBB4	2066	genome.wustl.edu	37	2	212652755	212652755	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:212652755G>A	ENST00000342788.4	-	4	861	c.551C>T	c.(550-552)tCa>tTa	p.S184L	ERBB4_ENST00000436443.1_Missense_Mutation_p.S184L|ERBB4_ENST00000402597.1_Missense_Mutation_p.S184L|ERBB4_ENST00000484474.1_5'UTR	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	184					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|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)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	CTTACATCCTGAACTACCATT	0.348										TSP Lung(8;0.080)																												dbGAP											0													97.0	91.0	93.0					2																	212652755		2202	4300	6502	-	-	-	SO:0001583	missense	0			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.551C>T	2.37:g.212652755G>A	ENSP00000342235:p.Ser184Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Nonsense_Mutation	SNP	pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt,superfamily_Kinase-like_dom,smart_Furin_repeat	p.Q184*	ENST00000342788.4	37	c.550	CCDS2394.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.90|11.90	1.777240|1.777240	0.31411|0.31411	.|.	.|.	ENSG00000178568|ENSG00000178568	ENST00000260943|ENST00000342788;ENST00000436443;ENST00000402597;ENST00000435846	.|D;D;D;D	.|0.82803	.|-1.65;-1.65;-1.65;-1.65	5.32|5.32	4.42|4.42	0.53409|0.53409	.|Growth factor, receptor (1);	.|0.817640	.|0.11502	.|N	.|0.557613	.|T	.|0.79076	.|0.4385	L|L	0.43923|0.43923	1.385|1.385	0.29873|0.29873	N|N	0.826642|0.826642	.|B;B;B;B;B	.|0.11235	.|0.001;0.004;0.001;0.001;0.001	.|B;B;B;B;B	.|0.16722	.|0.0;0.016;0.001;0.0;0.001	.|T	.|0.71728	.|-0.4505	.|10	.|0.42905	.|T	.|0.14	.|.	13.4376|13.4376	0.61092|0.61092	0.0:0.0:0.8429:0.1571|0.0:0.0:0.8429:0.1571	.|.	.|184;184;43;184;184	.|Q15303-4;Q15303-2;Q53QS8;Q15303-3;Q15303	.|.;.;.;.;ERBB4_HUMAN	X|L	184|184;184;184;125	.|ENSP00000342235:S184L;ENSP00000403204:S184L;ENSP00000385565:S184L;ENSP00000405564:S125L	.|ENSP00000342235:S184L	Q|S	-|-	1|2	0|0	ERBB4|ERBB4	212361000|212361000	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.949000|0.949000	0.60115|0.60115	3.792000|3.792000	0.55476|0.55476	1.192000|1.192000	0.43071|0.43071	0.484000|0.484000	0.47621|0.47621	CAG|TCA	ERBB4	-	superfamily_Growth_fac_rcpt,smart_Furin_repeat	ENSG00000178568		0.348	ERBB4-001	KNOWN	basic|CCDS	protein_coding	ERBB4	HGNC	protein_coding	OTTHUMT00000256597.1	68	0.00	0	G	NM_001042599		212652755	212652755	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000260943	ensembl	human	novel	69_37n	nonsense	74	13.95	12	SNP	0.828	A
ERI1	90459	genome.wustl.edu	37	8	8877911	8877911	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:8877911C>G	ENST00000523898.1	+	7	1423	c.744C>G	c.(742-744)ctC>ctG	p.L248L	ERI1_ENST00000519292.1_Silent_p.L248L|ERI1_ENST00000250263.7_Silent_p.L248L|ERI1_ENST00000520332.1_3'UTR			Q8IV48	ERI1_HUMAN	exoribonuclease 1	248	Exonuclease.				gene silencing by RNA (GO:0031047)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|rRNA 3'-end processing (GO:0031125)	cytoplasm (GO:0005737)|histone pre-mRNA 3'end processing complex (GO:0071204)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|histone pre-mRNA stem-loop binding (GO:0071207)|metal ion binding (GO:0046872)|ribosome binding (GO:0043022)|rRNA binding (GO:0019843)			NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11						TCAGCAGGCTCAAATACCCTC	0.303																																						dbGAP											0													81.0	80.0	80.0					8																	8877911		2203	4297	6500	-	-	-	SO:0001819	synonymous_variant	0			BC035279	CCDS5972.1	8p23.1	2008-12-16	2008-12-16	2008-12-16	ENSG00000104626	ENSG00000104626		"""Enhanced RNAi three prime mRNA exonucleases"""	23994	protein-coding gene	gene with protein product	"""exoribonuclease 1"", ""enhanced RNAi three prime mRNA exonuclease homolog 1 (C.elegans)"""	608739	"""three prime histone mRNA exonuclease 1"""	THEX1		14536070	Standard	NM_153332		Approved	3'HEXO	uc003wsk.2	Q8IV48	OTTHUMG00000129328	ENST00000523898.1:c.744C>G	8.37:g.8877911C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4U7|Q9NSX3	Silent	SNP	pfam_Exonuclease_RNaseT/DNA_pol3,pfam_SAP_DNA-bd,superfamily_RNaseH-like_dom,smart_SAP_DNA-bd,smart_Exonuclease,pfscan_SAP_DNA-bd	p.L248	ENST00000523898.1	37	c.744	CCDS5972.1	8																																																																																			ERI1	-	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	ENSG00000104626		0.303	ERI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERI1	HGNC	protein_coding	OTTHUMT00000251471.2	149	0.00	0	C	NM_153332		8877911	8877911	+1	no_errors	ENST00000250263	ensembl	human	known	69_37n	silent	29	46.30	25	SNP	1.000	G
ERI2	112479	genome.wustl.edu	37	16	20809729	20809729	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:20809729G>C	ENST00000357967.4	-	9	1435	c.1393C>G	c.(1393-1395)Cct>Gct	p.P465A	ERI2_ENST00000564349.1_Missense_Mutation_p.P372A|ERI2_ENST00000300005.3_Intron|ERI2_ENST00000569729.1_Intron|ERI2_ENST00000389345.5_Missense_Mutation_p.P200A|ERI2_ENST00000563117.1_Missense_Mutation_p.P372A	NM_001142725.1	NP_001136197.1	A8K979	ERI2_HUMAN	ERI1 exoribonuclease family member 2	465							exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(2)	11						GATTTTTGAGGAGTTTCCTCT	0.338																																						dbGAP											0													54.0	47.0	49.0					16																	20809729		692	1591	2283	-	-	-	SO:0001583	missense	0			BC010503	CCDS10590.1, CCDS45436.1	16p12.3	2014-02-18	2009-10-07	2008-12-16	ENSG00000196678	ENSG00000196678		"""Enhanced RNAi three prime mRNA exonucleases"""	30541	protein-coding gene	gene with protein product	"""enhanced RNAi three prime mRNA exonuclease homolog 2 (C.elegans)"", ""exoribonuclease 2"", ""zinc finger, GRF-type containing 5"""		"""exonuclease domain containing 1"""	EXOD1		10819331	Standard	NM_080663		Approved	KIAA1504, MGC16943, ZGRF5	uc010vbb.1	A8K979	OTTHUMG00000131557	ENST00000357967.4:c.1393C>G	16.37:g.20809729G>C	ENSP00000350651:p.Pro465Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZSJ2|Q96FR9|Q9P224|Q9Y6V3	Missense_Mutation	SNP	pfam_Exonuclease_RNaseT/DNA_pol3,pfam_Znf_GRF,superfamily_RNaseH-like_dom,smart_Exonuclease	p.P465A	ENST00000357967.4	37	c.1393	CCDS45436.1	16	.	.	.	.	.	.	.	.	.	.	G	1.209	-0.630248	0.03610	.	.	ENSG00000196678	ENST00000357967;ENST00000389345	T;T	0.19806	2.21;2.12	6.07	1.84	0.25277	.	0.774600	0.11974	N	0.511421	T	0.17450	0.0419	L	0.53249	1.67	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.34477	-0.9827	10	0.16420	T	0.52	-1.5599	6.87	0.24115	0.2761:0.1937:0.5302:0.0	.	465	A8K979	ERI2_HUMAN	A	465;200	ENSP00000350651:P465A;ENSP00000373996:P200A	ENSP00000350651:P465A	P	-	1	0	ERI2	20717230	0.000000	0.05858	0.099000	0.21106	0.012000	0.07955	0.068000	0.14531	0.477000	0.27464	-0.136000	0.14681	CCT	ERI2	-	NULL	ENSG00000196678		0.338	ERI2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ERI2	HGNC	protein_coding		49	0.00	0	G	NM_080663		20809729	20809729	-1	no_errors	ENST00000357967	ensembl	human	known	69_37n	missense	42	23.64	13	SNP	0.002	C
ESPL1	9700	genome.wustl.edu	37	12	53681819	53681819	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:53681819G>A	ENST00000257934.4	+	19	4331	c.4240G>A	c.(4240-4242)Gag>Aag	p.E1414K	ESPL1_ENST00000552462.1_Missense_Mutation_p.E1414K	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1414					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GCTGGCAGAGGAGCCTAAGAG	0.612											OREG0021863	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(53;1069 1201 2587 5382)	dbGAP											0													37.0	41.0	40.0					12																	53681819		2201	4298	6499	-	-	-	SO:0001583	missense	0			D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.4240G>A	12.37:g.53681819G>A	ENSP00000257934:p.Glu1414Lys	Somatic	994	WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Peptidase_C50	p.E1414K	ENST00000257934.4	37	c.4240	CCDS8852.1	12	.	.	.	.	.	.	.	.	.	.	G	10.53	1.375581	0.24857	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.11930	2.73;2.73	6.01	3.88	0.44766	.	0.914126	0.09659	N	0.772712	T	0.12135	0.0295	L	0.43152	1.355	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.36407	-0.9749	10	0.08599	T	0.76	.	11.0533	0.47903	0.1721:0.0:0.8279:0.0	.	1414	Q14674	ESPL1_HUMAN	K	1414;1089;1414	ENSP00000257934:E1414K;ENSP00000449831:E1414K	ENSP00000257934:E1414K	E	+	1	0	ESPL1	51968086	0.690000	0.27699	0.422000	0.26621	0.329000	0.28539	1.893000	0.39758	1.558000	0.49541	0.650000	0.86243	GAG	ESPL1	-	NULL	ENSG00000135476		0.612	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ESPL1	HGNC	protein_coding	OTTHUMT00000406899.2	9	0.00	0	G	NM_012291		53681819	53681819	+1	no_errors	ENST00000257934	ensembl	human	known	69_37n	missense	21	19.23	5	SNP	0.134	A
ESPL1	9700	genome.wustl.edu	37	12	53682053	53682053	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:53682053G>C	ENST00000257934.4	+	19	4565	c.4474G>C	c.(4474-4476)Gaa>Caa	p.E1492Q	ESPL1_ENST00000552462.1_Missense_Mutation_p.E1492Q	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1492					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CCCTGAGGAAGAACTGACTGA	0.572											OREG0021863	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(53;1069 1201 2587 5382)	dbGAP											0													24.0	21.0	22.0					12																	53682053		2202	4298	6500	-	-	-	SO:0001583	missense	0			D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.4474G>C	12.37:g.53682053G>C	ENSP00000257934:p.Glu1492Gln	Somatic	994	WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Peptidase_C50	p.E1492Q	ENST00000257934.4	37	c.4474	CCDS8852.1	12	.	.	.	.	.	.	.	.	.	.	G	9.847	1.192562	0.21954	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.13778	2.56;2.56	5.55	0.308	0.15815	.	0.364772	0.26352	N	0.024865	T	0.11793	0.0287	M	0.67953	2.075	0.24902	N	0.992091	B	0.16396	0.017	B	0.14023	0.01	T	0.18116	-1.0347	10	0.44086	T	0.13	.	2.5789	0.04813	0.1533:0.1225:0.4739:0.2503	.	1492	Q14674	ESPL1_HUMAN	Q	1492;1167;1492	ENSP00000257934:E1492Q;ENSP00000449831:E1492Q	ENSP00000257934:E1492Q	E	+	1	0	ESPL1	51968320	1.000000	0.71417	0.739000	0.30968	0.262000	0.26303	2.671000	0.46842	0.395000	0.25257	-0.300000	0.09419	GAA	ESPL1	-	NULL	ENSG00000135476		0.572	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ESPL1	HGNC	protein_coding	OTTHUMT00000406899.2	8	0.00	0	G	NM_012291		53682053	53682053	+1	no_errors	ENST00000257934	ensembl	human	known	69_37n	missense	23	34.29	12	SNP	0.676	C
ESR1	2099	genome.wustl.edu	37	6	152382234	152382234	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:152382234C>G	ENST00000206249.3	+	6	1706	c.1344C>G	c.(1342-1344)ctC>ctG	p.L448L	ESR1_ENST00000406599.1_Silent_p.L187L|ESR1_ENST00000427531.2_Silent_p.L275L|ESR1_ENST00000338799.5_Silent_p.L448L|ESR1_ENST00000443427.1_Silent_p.L448L|ESR1_ENST00000456483.2_Silent_p.L336L|ESR1_ENST00000440973.1_Silent_p.L448L	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	448	Interaction with AKAP13.|Self-association.|Steroid-binding.|Transactivation AF-2.				androgen metabolic process (GO:0008209)|antral ovarian follicle growth (GO:0001547)|cellular response to estradiol stimulus (GO:0071392)|chromatin remodeling (GO:0006338)|epithelial cell development (GO:0002064)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|gene expression (GO:0010467)|intracellular estrogen receptor signaling pathway (GO:0030520)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|male gonad development (GO:0008584)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of gene expression (GO:0010629)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcriptionally active chromatin (GO:0035327)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0038052)|identical protein binding (GO:0042802)|nitric-oxide synthase regulator activity (GO:0030235)|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)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.L448L(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108)	TTGTGTGCCTCAAATCTATTA	0.413																																						dbGAP											1	Substitution - coding silent(1)	endometrium(1)											145.0	137.0	140.0					6																	152382234		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X03635	CCDS5234.1	6q24-q27	2013-01-16			ENSG00000091831	ENSG00000091831		"""Nuclear hormone receptors"""	3467	protein-coding gene	gene with protein product		133430		ESR		3754034	Standard	NM_000125		Approved	NR3A1, Era	uc003qon.4	P03372	OTTHUMG00000016103	ENST00000206249.3:c.1344C>G	6.37:g.152382234C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Nonsense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Oestr_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.S353*	ENST00000206249.3	37	c.1058	CCDS5234.1	6	.	.	.	.	.	.	.	.	.	.	C	9.344	1.063714	0.20067	.	.	ENSG00000091831	ENST00000427531	.	.	.	5.38	4.5	0.54988	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.595	0.22667	0.0:0.5474:0.3433:0.1093	.	.	.	.	X	353	.	.	S	+	2	0	ESR1	152423927	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.619000	0.36965	1.253000	0.44018	0.655000	0.94253	TCA	ESR1	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt	ENSG00000091831		0.413	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESR1	HGNC	protein_coding	OTTHUMT00000043308.1	142	0.00	0	C			152382234	152382234	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000427531	ensembl	human	putative	69_37n	nonsense	113	19.29	27	SNP	1.000	G
ESRP2	80004	genome.wustl.edu	37	16	68264341	68264341	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:68264341G>C	ENST00000565858.1	-	14	2131	c.2045C>G	c.(2044-2046)cCa>cGa	p.P682R	RP11-96D1.10_ENST00000571975.1_RNA|RP11-96D1.11_ENST00000571197.1_RNA|ESRP2_ENST00000473183.2_Missense_Mutation_p.P672R	NM_024939.2	NP_079215.2	Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	682					mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						AGCCGTGTATGGGACACCCTG	0.627																																						dbGAP											0													99.0	102.0	101.0					16																	68264341		2198	4300	6498	-	-	-	SO:0001583	missense	0			AK025571	CCDS10863.1	16q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000103067	ENSG00000103067		"""RNA binding motif (RRM) containing"""	26152	protein-coding gene	gene with protein product		612960	"""RNA binding motif protein 35B"""	RBM35B		12477932	Standard	NM_024939		Approved	FLJ21918	uc002evq.1	Q9H6T0	OTTHUMG00000137557	ENST00000565858.1:c.2045C>G	16.37:g.68264341G>C	ENSP00000454554:p.Pro682Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N6H8|Q8WZ15|Q9H6I4	Missense_Mutation	SNP	superfamily_RNaseH-like_dom,smart_RRM_dom	p.P682R	ENST00000565858.1	37	c.2045		16	.	.	.	.	.	.	.	.	.	.	G	23.1	4.374609	0.82573	.	.	ENSG00000103067	ENST00000473183	T	0.12255	2.7	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.35158	0.0922	L	0.59436	1.845	0.80722	D	1	D;D	0.67145	0.996;0.982	P;P	0.62813	0.899;0.907	T	0.00961	-1.1499	10	0.87932	D	0	-12.8873	20.3437	0.98782	0.0:0.0:1.0:0.0	.	682;672	Q9H6T0;Q9H6T0-2	ESRP2_HUMAN;.	R	672	ENSP00000418748:P672R	ENSP00000418748:P672R	P	-	2	0	ESRP2	66821842	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.762000	0.98944	2.815000	0.96918	0.561000	0.74099	CCA	ESRP2	-	NULL	ENSG00000103067		0.627	ESRP2-004	KNOWN	basic|appris_candidate_longest	protein_coding	ESRP2	HGNC	protein_coding	OTTHUMT00000433083.1	72	0.00	0	G	NM_024939		68264341	68264341	-1	no_errors	ENST00000565858	ensembl	human	known	69_37n	missense	93	10.48	11	SNP	1.000	C
ESRRG	2104	genome.wustl.edu	37	1	216850516	216850516	+	Missense_Mutation	SNP	T	T	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:216850516T>C	ENST00000408911.3	-	2	527	c.374A>G	c.(373-375)aAg>aGg	p.K125R	ESRRG_ENST00000366940.2_Missense_Mutation_p.K102R|ESRRG_ENST00000359162.2_Missense_Mutation_p.K102R|ESRRG_ENST00000360012.3_Missense_Mutation_p.K102R|ESRRG_ENST00000366938.2_Missense_Mutation_p.K102R|ESRRG_ENST00000361395.2_Missense_Mutation_p.K102R|ESRRG_ENST00000463665.1_Missense_Mutation_p.K102R|ESRRG_ENST00000361525.3_Missense_Mutation_p.K102R|ESRRG_ENST00000487276.1_Missense_Mutation_p.K102R|ESRRG_ENST00000366937.1_Missense_Mutation_p.K130R|ESRRG_ENST00000391890.3_Missense_Mutation_p.K102R|ESRRG_ENST00000493603.1_Missense_Mutation_p.K102R|ESRRG_ENST00000493748.1_Missense_Mutation_p.K102R	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma	125					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	AF-2 domain binding (GO:0050682)|retinoic acid receptor activity (GO:0003708)|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 positive regulation of transcription (GO:0001228)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	ACACAGTCTCTTGGGCATCGA	0.493																																						dbGAP											0													214.0	190.0	198.0					1																	216850516		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF058291	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	1q41	2014-02-18			ENSG00000196482	ENSG00000196482		"""Nuclear hormone receptors"""	3474	protein-coding gene	gene with protein product		602969				9676434, 10072763	Standard	NM_001243505		Approved	NR3B3	uc001hkw.2	P62508	OTTHUMG00000037025	ENST00000408911.3:c.374A>G	1.37:g.216850516T>C	ENSP00000386171:p.Lys125Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt	p.K125R	ENST00000408911.3	37	c.374	CCDS41468.1	1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.553603	0.86127	.	.	ENSG00000196482	ENST00000361525;ENST00000366940;ENST00000366937;ENST00000408911;ENST00000359162;ENST00000361395;ENST00000366938;ENST00000360012;ENST00000493603;ENST00000391890;ENST00000463665;ENST00000487276;ENST00000354407;ENST00000493748;ENST00000475275	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96232	-3.29;-3.29;-3.27;-3.3;-3.29;-3.29;-3.29;-3.29;-3.29;-3.3;-3.95;-3.29;-3.29;-3.12	6.01	6.01	0.97437	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (2);	0.000000	0.85682	D	0.000000	D	0.97383	0.9144	L	0.54323	1.7	0.80722	D	1	B;D;D	0.58268	0.209;0.974;0.982	B;D;P	0.70487	0.178;0.969;0.522	D	0.98005	1.0362	10	0.66056	D	0.02	.	16.5285	0.84344	0.0:0.0:0.0:1.0	.	102;130;125	E9PGB7;F8W8J3;P62508	.;.;ERR3_HUMAN	R	102;102;130;125;102;102;102;102;102;102;102;102;102;102;102	ENSP00000355225:K102R;ENSP00000355907:K102R;ENSP00000355904:K130R;ENSP00000386171:K125R;ENSP00000352077:K102R;ENSP00000354584:K102R;ENSP00000355905:K102R;ENSP00000353108:K102R;ENSP00000419594:K102R;ENSP00000375761:K102R;ENSP00000418629:K102R;ENSP00000419155:K102R;ENSP00000417374:K102R;ENSP00000419514:K102R	ENSP00000346386:K102R	K	-	2	0	ESRRG	214917139	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.307000	0.77673	0.528000	0.53228	AAG	ESRRG	-	smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt	ENSG00000196482		0.493	ESRRG-001	KNOWN	basic|CCDS	protein_coding	ESRRG	HGNC	protein_coding	OTTHUMT00000089882.2	86	0.00	0	T	NM_206595		216850516	216850516	-1	no_errors	ENST00000408911	ensembl	human	known	69_37n	missense	121	20.92	32	SNP	1.000	C
ESYT1	23344	genome.wustl.edu	37	12	56524862	56524862	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:56524862G>A	ENST00000394048.5	+	4	870	c.606G>A	c.(604-606)caG>caA	p.Q202Q	RP11-603J24.5_ENST00000550947.1_RNA|ESYT1_ENST00000267113.4_Silent_p.Q202Q|ESYT1_ENST00000541590.1_Silent_p.Q202Q|RP11-603J24.5_ENST00000549438.1_RNA	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	202	Glycerophospholipid-binding barrel-like domain. {ECO:0000250}.				lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						ACCCAGGTCAGAGAAAAGAGC	0.502																																						dbGAP											0													167.0	153.0	158.0					12																	56524862		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"""Synaptotagmins"""	29534	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member A"""	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.606G>A	12.37:g.56524862G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,prints_C2_dom,pfscan_C2_membr_targeting	p.Q202	ENST00000394048.5	37	c.606	CCDS8904.1	12																																																																																			ESYT1	-	NULL	ENSG00000139641		0.502	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ESYT1	HGNC	protein_coding	OTTHUMT00000407906.1	145	0.00	0	G	NM_015292		56524862	56524862	+1	no_errors	ENST00000267113	ensembl	human	known	69_37n	silent	166	19.42	40	SNP	0.998	A
ETF1	2107	genome.wustl.edu	37	5	137854525	137854525	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:137854525G>A	ENST00000360541.5	-	3	339	c.118C>T	c.(118-120)Cct>Tct	p.P40S	ETF1_ENST00000514005.1_5'UTR|ETF1_ENST00000503014.1_Missense_Mutation_p.P26S|ETF1_ENST00000499810.2_Missense_Mutation_p.P7S	NM_004730.3	NP_004721.1	P62495	ERF1_HUMAN	eukaryotic translation termination factor 1	40					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)|protein methylation (GO:0006479)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational termination (GO:0006415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|translation release factor activity (GO:0003747)|translation release factor activity, codon specific (GO:0016149)|translation termination factor activity (GO:0008079)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TCTTTGGGAGGAATGATCAAT	0.403																																						dbGAP											0													121.0	117.0	118.0					5																	137854525		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF095901	CCDS4207.1, CCDS75313.1, CCDS75314.1	5q31.2	2008-02-05			ENSG00000120705	ENSG00000120705			3477	protein-coding gene	gene with protein product	"""sup45 (yeast omnipotent suppressor 45) homolog-like 1"", ""polypeptide chain release factor 1"""	600285		SUP45L1, ERF1, ERF		1546371, 7990965	Standard	NM_004730		Approved	eRF1, TB3-1, RF1	uc003ldc.5	P62495	OTTHUMG00000129199	ENST00000360541.5:c.118C>T	5.37:g.137854525G>A	ENSP00000353741:p.Pro40Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6B4|D3DQC1|P46055|Q5M7Z7|Q96CG1	Missense_Mutation	SNP	pfam_eRF1_2,pfam_eRF1_3,pfam_eRF1_1_Pelota,superfamily_Release_factor_eRF1/aRF1_N,tigrfam_Peptide_chain-rel_eRF1/aRF1	p.P40S	ENST00000360541.5	37	c.118	CCDS4207.1	5	.	.	.	.	.	.	.	.	.	.	G	29.3	4.996461	0.93167	.	.	ENSG00000120705	ENST00000499810;ENST00000360541;ENST00000503014;ENST00000507939	.	.	.	5.38	5.38	0.77491	eRF1 domain 1/Pelota-like (1);Peptide Chain Release Factor eRF1/aRF1, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.84224	0.5425	M	0.85945	2.785	0.80722	D	1	D;D	0.89917	1.0;0.995	D;P	0.97110	1.0;0.876	D	0.86045	0.1522	9	0.59425	D	0.04	-4.3425	18.7269	0.91717	0.0:0.0:1.0:0.0	.	26;40	B7Z7P8;P62495	.;ERF1_HUMAN	S	7;40;26;7	.	ENSP00000353741:P40S	P	-	1	0	ETF1	137882424	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.864000	0.99589	2.521000	0.84997	0.460000	0.39030	CCT	ETF1	-	pfam_eRF1_1_Pelota,superfamily_Release_factor_eRF1/aRF1_N,tigrfam_Peptide_chain-rel_eRF1/aRF1	ENSG00000120705		0.403	ETF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETF1	HGNC	protein_coding	OTTHUMT00000251276.2	107	0.00	0	G	NM_004730		137854525	137854525	-1	no_errors	ENST00000360541	ensembl	human	known	69_37n	missense	88	24.79	29	SNP	1.000	A
ETFDH	2110	genome.wustl.edu	37	4	159603495	159603495	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:159603495G>A	ENST00000511912.1	+	3	656	c.324G>A	c.(322-324)caG>caA	p.Q108Q	ETFDH_ENST00000307738.5_Silent_p.Q61Q	NM_001281738.1|NM_004453.2	NP_001268667.1|NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	108					cellular metabolic process (GO:0044237)|electron transport chain (GO:0022900)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, oxidizing metal ions with flavin as acceptor (GO:0043783)|quinone binding (GO:0048038)|ubiquinone binding (GO:0048039)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		AAGCTGCCCAGATAGGAGCTC	0.493																																						dbGAP											0													135.0	141.0	139.0					4																	159603495		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			S69232	CCDS3800.1, CCDS64090.1	4q32-q35	2008-08-26			ENSG00000171503	ENSG00000171503			3483	protein-coding gene	gene with protein product		231675					Standard	NM_004453		Approved	ETFQO	uc003iqb.3	Q16134	OTTHUMG00000161684	ENST00000511912.1:c.324G>A	4.37:g.159603495G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E3R9|J3KND9|Q7Z347	Silent	SNP	pfam_ETFD_OxRdtase,pfam_FAD_bind_dom,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Pyridine_nuc-diS_OxRdtase_2	p.Q108	ENST00000511912.1	37	c.324	CCDS3800.1	4																																																																																			ETFDH	-	pfam_FAD_bind_dom,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD	ENSG00000171503		0.493	ETFDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETFDH	HGNC	protein_coding	OTTHUMT00000365718.2	89	0.00	0	G			159603495	159603495	+1	no_errors	ENST00000511912	ensembl	human	known	69_37n	silent	67	21.18	18	SNP	1.000	A
EVI2A	2123	genome.wustl.edu	37	17	29645755	29645755	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:29645755C>A	ENST00000462804.2	-	2	676	c.277G>T	c.(277-279)Gag>Tag	p.E93*	CTD-2370N5.3_ENST00000578584.1_Missense_Mutation_p.G32V|EVI2A_ENST00000461237.1_Nonsense_Mutation_p.E93*|EVI2A_ENST00000247270.3_Nonsense_Mutation_p.E116*|NF1_ENST00000358273.4_Intron|NF1_ENST00000581113.2_Intron|NF1_ENST00000356175.3_Intron	NM_014210.3	NP_055025.2	P22794	EVI2A_HUMAN	ecotropic viral integration site 2A	93					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)	p.0?(8)|p.?(3)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18)		ATATAAAGCTCCTGTTCAGAT	0.363																																						dbGAP											11	Whole gene deletion(8)|Unknown(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)											156.0	156.0	156.0					17																	29645755		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			M55267	CCDS32608.1, CCDS42293.1	17q11.2	2008-07-18			ENSG00000126860	ENSG00000126860			3499	protein-coding gene	gene with protein product		158380		EVI2		2117566	Standard	NM_014210		Approved	EVDA	uc002hgm.3	P22794	OTTHUMG00000159306	ENST00000462804.2:c.277G>T	17.37:g.29645755C>A	ENSP00000420557:p.Glu93*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5X2|B4DHX8	Nonsense_Mutation	SNP	pfam_Ectropic_vir_integratn_site_2A,pirsf_Ectropic_vir_integratn_site_2A	p.E116*	ENST00000462804.2	37	c.346	CCDS42293.1	17	.	.	.	.	.	.	.	.	.	.	C	35	5.559572	0.96514	.	.	ENSG00000126860	ENST00000394755;ENST00000462804;ENST00000461237;ENST00000247270	.	.	.	5.52	1.08	0.20341	.	1.054370	0.07352	N	0.882539	.	.	.	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	4.817	0.13372	0.0:0.3968:0.2703:0.3329	.	.	.	.	X	93;89;93;116	.	ENSP00000247270:E116X	E	-	1	0	EVI2A	26669881	0.036000	0.19791	0.033000	0.17914	0.803000	0.45373	0.538000	0.23160	0.272000	0.22027	0.655000	0.94253	GAG	EVI2A	-	pfam_Ectropic_vir_integratn_site_2A,pirsf_Ectropic_vir_integratn_site_2A	ENSG00000126860		0.363	EVI2A-001	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	EVI2A	HGNC	protein_coding	OTTHUMT00000354491.3	184	0.00	0	C	NM_014210		29645755	29645755	-1	no_errors	ENST00000247270	ensembl	human	known	69_37n	nonsense	89	30.47	39	SNP	0.000	A
EVI5L	115704	genome.wustl.edu	37	19	7913975	7913975	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:7913975G>A	ENST00000270530.4	+	4	692	c.496G>A	c.(496-498)Gag>Aag	p.E166K	EVI5L_ENST00000538904.2_Missense_Mutation_p.E166K	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	166	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				negative regulation of cilium assembly (GO:1902018)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						CCCGGAACATGAGTTCTTCAA	0.622																																						dbGAP											0													31.0	28.0	29.0					19																	7913975		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC014111	CCDS12188.1, CCDS54209.1	19p13	2013-07-09				ENSG00000142459			30464	protein-coding gene	gene with protein product						23669355	Standard	NM_001159944		Approved		uc010xjz.2	Q96CN4		ENST00000270530.4:c.496G>A	19.37:g.7913975G>A	ENSP00000270530:p.Glu166Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B9A6I9	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.E166K	ENST00000270530.4	37	c.496	CCDS12188.1	19	.	.	.	.	.	.	.	.	.	.	G	17.86	3.492648	0.64074	.	.	ENSG00000142459	ENST00000270530;ENST00000538904	T;T	0.11063	2.81;2.81	3.91	3.91	0.45181	Rab-GAP/TBC domain (4);	0.235565	0.42053	D	0.000761	T	0.11196	0.0273	N	0.25426	0.745	0.51233	D	0.999912	B;B	0.25850	0.136;0.019	B;B	0.36092	0.217;0.045	T	0.17501	-1.0367	10	0.51188	T	0.08	-19.4012	13.4556	0.61197	0.0:0.0:1.0:0.0	.	166;166	B9A6I9;Q96CN4	.;EVI5L_HUMAN	K	166	ENSP00000270530:E166K;ENSP00000445905:E166K	ENSP00000270530:E166K	E	+	1	0	EVI5L	7819975	1.000000	0.71417	0.994000	0.49952	0.819000	0.46315	9.657000	0.98554	2.023000	0.59567	0.462000	0.41574	GAG	EVI5L	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000142459		0.622	EVI5L-001	KNOWN	basic|CCDS	protein_coding	EVI5L	HGNC	protein_coding	OTTHUMT00000461347.1	25	0.00	0	G	NM_145245		7913975	7913975	+1	no_errors	ENST00000538904	ensembl	human	known	69_37n	missense	22	29.03	9	SNP	1.000	A
EVPL	2125	genome.wustl.edu	37	17	74005361	74005361	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:74005361C>G	ENST00000301607.3	-	22	4178	c.3925G>C	c.(3925-3927)Gag>Cag	p.E1309Q	EVPL_ENST00000586740.1_Missense_Mutation_p.E1331Q	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1309	Central fibrous rod domain.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GTCTTGGTCTCCACCTTGGCC	0.682																																						dbGAP											0													102.0	112.0	108.0					17																	74005361		2202	4300	6502	-	-	-	SO:0001583	missense	0			U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.3925G>C	17.37:g.74005361C>G	ENSP00000301607:p.Glu1309Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AUV5	Missense_Mutation	SNP	pfam_Plectin_repeat,superfamily_Ferritin/RR-like,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.E1309Q	ENST00000301607.3	37	c.3925	CCDS11737.1	17	.	.	.	.	.	.	.	.	.	.	C	16.57	3.158982	0.57368	.	.	ENSG00000167880	ENST00000301607	T	0.44881	0.91	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.61299	0.2336	L	0.57536	1.79	0.54753	D	0.99998	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.54951	-0.8216	10	0.25106	T	0.35	-47.7353	18.8333	0.92150	0.0:1.0:0.0:0.0	.	1331;1309	B7ZLH8;Q92817	.;EVPL_HUMAN	Q	1309	ENSP00000301607:E1309Q	ENSP00000301607:E1309Q	E	-	1	0	EVPL	71516956	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	7.726000	0.84824	2.468000	0.83385	0.561000	0.74099	GAG	EVPL	-	NULL	ENSG00000167880		0.682	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EVPL	HGNC	protein_coding	OTTHUMT00000449483.1	25	0.00	0	C	NM_001988		74005361	74005361	-1	no_errors	ENST00000301607	ensembl	human	known	69_37n	missense	25	16.67	5	SNP	1.000	G
EVPL	2125	genome.wustl.edu	37	17	74011098	74011098	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:74011098C>G	ENST00000301607.3	-	17	2374	c.2121G>C	c.(2119-2121)caG>caC	p.Q707H	EVPL_ENST00000586740.1_Missense_Mutation_p.Q729H	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	707	Globular 1.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GGAAGTTGTTCTGCAGGGCAG	0.682																																						dbGAP											0													40.0	43.0	42.0					17																	74011098		2203	4298	6501	-	-	-	SO:0001583	missense	0			U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.2121G>C	17.37:g.74011098C>G	ENSP00000301607:p.Gln707His	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AUV5	Missense_Mutation	SNP	pfam_Plectin_repeat,superfamily_Ferritin/RR-like,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.Q707H	ENST00000301607.3	37	c.2121	CCDS11737.1	17	.	.	.	.	.	.	.	.	.	.	C	25.4	4.634770	0.87660	.	.	ENSG00000167880	ENST00000301607	T	0.66460	-0.21	5.36	3.36	0.38483	.	0.112943	0.64402	D	0.000008	T	0.78547	0.4300	M	0.72894	2.215	0.48571	D	0.999671	D;B	0.89917	1.0;0.034	D;B	0.74023	0.982;0.016	T	0.79436	-0.1804	10	0.72032	D	0.01	-27.8392	11.6441	0.51250	0.0:0.8086:0.1238:0.0677	.	729;707	B7ZLH8;Q92817	.;EVPL_HUMAN	H	707	ENSP00000301607:Q707H	ENSP00000301607:Q707H	Q	-	3	2	EVPL	71522693	1.000000	0.71417	0.992000	0.48379	0.929000	0.56500	2.519000	0.45546	0.758000	0.33059	0.655000	0.94253	CAG	EVPL	-	NULL	ENSG00000167880		0.682	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EVPL	HGNC	protein_coding	OTTHUMT00000449483.1	19	0.00	0	C	NM_001988		74011098	74011098	-1	no_errors	ENST00000301607	ensembl	human	known	69_37n	missense	19	26.92	7	SNP	1.000	G
EWSR1	2130	genome.wustl.edu	37	22	29695604	29695604	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:29695604G>C	ENST00000397938.2	+	16	2013	c.1694G>C	c.(1693-1695)aGa>aCa	p.R565T	EWSR1_ENST00000331029.7_Missense_Mutation_p.R527T|EWSR1_ENST00000414183.2_Missense_Mutation_p.R570T|EWSR1_ENST00000332050.6_Missense_Mutation_p.R492T|EWSR1_ENST00000332035.6_Missense_Mutation_p.R509T|EWSR1_ENST00000406548.1_Missense_Mutation_p.R564T	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	565	Arg/Gly/Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GATCGTGGCAGAGGTGGCCCT	0.617			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""																																	dbGAP		Dom	yes		22	22q12	2130	Ewing sarcoma breakpoint region 1 (EWS)		"""L, M"""	0													89.0	73.0	78.0					22																	29695604		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13851.1, CCDS13852.1, CCDS13852.2, CCDS54512.1, CCDS54513.1, CCDS54514.1	22q12.2	2013-05-24	2013-05-24		ENSG00000182944	ENSG00000182944		"""RNA binding motif (RRM) containing"""	3508	protein-coding gene	gene with protein product		133450	"""Ewing sarcoma breakpoint region 1"""			1522903	Standard	NM_005243		Approved	EWS	uc003aev.3	Q01844	OTTHUMG00000151107	ENST00000397938.2:c.1694G>C	22.37:g.29695604G>C	ENSP00000381031:p.Arg565Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B0QYK1|Q5THL0|Q92635|Q96FE8|Q96MN4|Q96MX4|Q9BWA2	Missense_Mutation	SNP	pfam_Znf_RanBP2,pfam_RRM_dom,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom	p.R570T	ENST00000397938.2	37	c.1709	CCDS13851.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.30|14.30	2.495349|2.495349	0.44352|0.44352	.|.	.|.	ENSG00000182944|ENSG00000182944	ENST00000360091|ENST00000332050;ENST00000397938;ENST00000406548;ENST00000331029;ENST00000414183;ENST00000332035	.|D;D;D;D;D;D	.|0.97089	.|-4.16;-3.62;-3.74;-4.24;-3.76;-3.64	5.19|5.19	5.19|5.19	0.71726|0.71726	.|.	.|0.000000	.|0.85682	.|U	.|0.000000	D|D	0.94693|0.94693	0.8288|0.8288	L|L	0.50333|0.50333	1.59|1.59	0.43317|0.43317	D|D	0.995339|0.995339	.|B;B;B;B;B	.|0.30068	.|0.267;0.267;0.267;0.267;0.267	.|B;B;B;B;B	.|0.19666	.|0.026;0.026;0.026;0.018;0.018	D|D	0.93625|0.93625	0.6951|0.6951	5|10	.|0.51188	.|T	.|0.08	.|.	15.1429|15.1429	0.72623|0.72623	0.0:0.0:0.8583:0.1417|0.0:0.0:0.8583:0.1417	.|.	.|509;564;509;570;565	.|Q96MN4;Q96FE8;B0QYK1;Q96MX4;Q01844	.|.;.;.;.;EWS_HUMAN	H|T	216|492;565;564;527;570;509	.|ENSP00000330896:R492T;ENSP00000381031:R565T;ENSP00000385726:R564T;ENSP00000330516:R527T;ENSP00000400142:R570T;ENSP00000331699:R509T	.|ENSP00000330516:R527T	Q|R	+|+	3|2	2|0	EWSR1|EWSR1	28025604|28025604	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.890000|0.890000	0.51754|0.51754	4.766000|4.766000	0.62279|0.62279	2.423000|2.423000	0.82170|0.82170	0.313000|0.313000	0.20887|0.20887	CAG|AGA	EWSR1	-	NULL	ENSG00000182944		0.617	EWSR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	EWSR1	HGNC	protein_coding	OTTHUMT00000321345.1	172	0.00	0	G	NM_005243		29695604	29695604	+1	no_errors	ENST00000414183	ensembl	human	known	69_37n	missense	253	24.70	83	SNP	1.000	C
EXD1	161829	genome.wustl.edu	37	15	41483693	41483693	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:41483693G>C	ENST00000314992.5	-	8	827	c.637C>G	c.(637-639)Caa>Gaa	p.Q213E	RN7SL497P_ENST00000476341.2_RNA|EXD1_ENST00000458580.2_Missense_Mutation_p.Q271E	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	213							3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						GGGGCTACTTGAAGGTGTTTG	0.383																																						dbGAP											0													95.0	98.0	97.0					15																	41483693		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC030628	CCDS10072.1, CCDS66738.1	15q15.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000178997	ENSG00000178997			28507	protein-coding gene	gene with protein product			"""exonuclease 3'-5' domain-like 1"""	EXDL1		12477932	Standard	NM_001286441		Approved	MGC33637	uc001znk.3	Q8NHP7	OTTHUMG00000130232	ENST00000314992.5:c.637C>G	15.37:g.41483693G>C	ENSP00000321029:p.Gln213Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K909|B7Z839|Q6ZW94	Missense_Mutation	SNP	pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom	p.Q213E	ENST00000314992.5	37	c.637	CCDS10072.1	15	.	.	.	.	.	.	.	.	.	.	G	8.894	0.954736	0.18431	.	.	ENSG00000178997	ENST00000314992;ENST00000458580	T;T	0.40476	1.03;1.04	5.55	3.25	0.37280	-5&apos (1);Ribonuclease H-like (1); exonuclease (1);3&apos (1);	0.441671	0.22679	N	0.056967	T	0.22513	0.0543	N	0.19112	0.55	0.19300	N	0.999975	B;B	0.12630	0.001;0.006	B;B	0.14023	0.008;0.01	T	0.20940	-1.0260	10	0.16420	T	0.52	-0.1315	5.4232	0.16411	0.0:0.1533:0.1493:0.6974	.	271;213	B7Z839;Q8NHP7	.;EXD1_HUMAN	E	213;271	ENSP00000321029:Q213E;ENSP00000415056:Q271E	ENSP00000321029:Q213E	Q	-	1	0	EXD1	39270985	1.000000	0.71417	1.000000	0.80357	0.683000	0.39861	1.763000	0.38461	0.399000	0.25367	-0.514000	0.04452	CAA	EXD1	-	superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom	ENSG00000178997		0.383	EXD1-001	KNOWN	basic|CCDS	protein_coding	EXD1	HGNC	protein_coding	OTTHUMT00000252553.2	91	0.00	0	G	NM_152596		41483693	41483693	-1	no_errors	ENST00000314992	ensembl	human	known	69_37n	missense	80	16.67	16	SNP	0.999	C
EXO1	9156	genome.wustl.edu	37	1	242042296	242042296	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:242042296C>G	ENST00000366548.3	+	13	2353	c.1760C>G	c.(1759-1761)tCt>tGt	p.S587C	EXO1_ENST00000518483.1_Missense_Mutation_p.S587C|EXO1_ENST00000348581.5_Missense_Mutation_p.S587C	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	587					DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	5'-3' exodeoxyribonuclease activity (GO:0035312)|5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|double-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0051908)|exonuclease activity (GO:0004527)|flap endonuclease activity (GO:0048256)|metal ion binding (GO:0046872)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)|structure-specific DNA binding (GO:0043566)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			GAGTCCTACTCTTTTGAGAGC	0.398								Editing and processing nucleases																														dbGAP											0													137.0	134.0	135.0					1																	242042296		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF042282	CCDS1620.1, CCDS44336.1	1q42-q43	2008-07-18			ENSG00000174371	ENSG00000174371			3511	protein-coding gene	gene with protein product	"""rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1"""	606063				9685493, 9788596	Standard	NM_003686		Approved	HEX1, hExoI	uc001hzh.3	Q9UQ84	OTTHUMG00000039965	ENST00000366548.3:c.1760C>G	1.37:g.242042296C>G	ENSP00000355506:p.Ser587Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	Missense_Mutation	SNP	pfam_XPG/RAD2_endonuclease,pfam_XPG_DNA_repair_N,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG/RAD2_endonuclease,smart_HhH2,prints_XPGC_Rad_DNA_repair	p.S587C	ENST00000366548.3	37	c.1760	CCDS1620.1	1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.473526	0.43942	.	.	ENSG00000174371	ENST00000366548;ENST00000348581;ENST00000518483	T;T;T	0.32753	1.44;1.44;1.44	5.2	4.28	0.50868	.	0.554792	0.20019	N	0.100950	T	0.37812	0.1017	M	0.67953	2.075	0.09310	N	1	D;B;D	0.55800	0.973;0.016;0.973	B;B;P	0.46975	0.43;0.01;0.533	T	0.29882	-0.9997	10	0.56958	D	0.05	-18.6475	11.7236	0.51696	0.0:0.823:0.177:0.0	.	586;587;587	A8K5H6;Q9UQ84-4;Q9UQ84	.;.;EXO1_HUMAN	C	587	ENSP00000355506:S587C;ENSP00000311873:S587C;ENSP00000430251:S587C	ENSP00000311873:S587C	S	+	2	0	EXO1	240108919	0.005000	0.15991	0.005000	0.12908	0.013000	0.08279	0.391000	0.20784	1.419000	0.47118	0.650000	0.86243	TCT	EXO1	-	NULL	ENSG00000174371		0.398	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EXO1	HGNC	protein_coding	OTTHUMT00000096405.1	90	0.00	0	C	NM_006027		242042296	242042296	+1	no_errors	ENST00000348581	ensembl	human	known	69_37n	missense	97	34.46	51	SNP	0.011	G
EXOC1	55763	genome.wustl.edu	37	4	56762985	56762985	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:56762985G>C	ENST00000381295.2	+	16	2404	c.2056G>C	c.(2056-2058)Gaa>Caa	p.E686Q	EXOC1_ENST00000349598.6_Missense_Mutation_p.E671Q|EXOC1_ENST00000346134.7_Missense_Mutation_p.E686Q	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	686					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					TGGACTTGCAGAATCAATCTT	0.353																																						dbGAP											0													80.0	79.0	79.0					4																	56762985		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"""SEC3-like 1 (S. cerevisiae)"""	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.2056G>C	4.37:g.56762985G>C	ENSP00000370695:p.Glu686Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q504V4|Q8WUE7|Q96T15|Q9NZE4	Missense_Mutation	SNP	pfam_Exocyst_Exoc1	p.E686Q	ENST00000381295.2	37	c.2056	CCDS3502.1	4	.	.	.	.	.	.	.	.	.	.	G	28.7	4.946712	0.92593	.	.	ENSG00000090989	ENST00000381295;ENST00000346134;ENST00000349598	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.79094	0.4388	M	0.67953	2.075	0.80722	D	1	D;D	0.71674	0.995;0.998	D;D	0.73380	0.966;0.98	T	0.77960	-0.2391	9	0.54805	T	0.06	.	20.3363	0.98740	0.0:0.0:1.0:0.0	.	671;686	Q9NV70-2;Q9NV70	.;EXOC1_HUMAN	Q	686;686;671	.	ENSP00000326514:E686Q	E	+	1	0	EXOC1	56457742	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.476000	0.97823	2.814000	0.96858	0.563000	0.77884	GAA	EXOC1	-	pfam_Exocyst_Exoc1	ENSG00000090989		0.353	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EXOC1	HGNC	protein_coding	OTTHUMT00000361799.1	90	0.00	0	G	NM_018261		56762985	56762985	+1	no_errors	ENST00000346134	ensembl	human	known	69_37n	missense	47	22.95	14	SNP	1.000	C
EXOC2	55770	genome.wustl.edu	37	6	564085	564085	+	Missense_Mutation	SNP	G	G	C	rs143516441	byFrequency	TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:564085G>C	ENST00000230449.4	-	16	1872	c.1737C>G	c.(1735-1737)atC>atG	p.I579M	EXOC2_ENST00000448181.3_Missense_Mutation_p.I174M	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	579					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		GGAGATCCAAGATGAGATCCT	0.453																																						dbGAP											0													141.0	122.0	128.0					6																	564085		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"""SEC5-like 1 (S. cerevisiae)"""	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.1737C>G	6.37:g.564085G>C	ENSP00000230449:p.Ile579Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,superfamily_Cullin_repeat-like_dom	p.I579M	ENST00000230449.4	37	c.1737	CCDS34327.1	6	.	.	.	.	.	.	.	.	.	.	G	12.65	2.001154	0.35320	.	.	ENSG00000112685	ENST00000230449;ENST00000448181	T;T	0.25749	1.78;1.78	5.73	-0.882	0.10604	.	0.113216	0.64402	D	0.000011	T	0.09598	0.0236	L	0.54323	1.7	0.40950	D	0.984533	B	0.24651	0.108	B	0.28991	0.097	T	0.09122	-1.0689	10	0.49607	T	0.09	-9.0084	5.717	0.17966	0.4871:0.0:0.3849:0.1279	.	579	Q96KP1	EXOC2_HUMAN	M	579;174	ENSP00000230449:I579M;ENSP00000398113:I174M	ENSP00000230449:I579M	I	-	3	3	EXOC2	509085	0.532000	0.26346	0.037000	0.18230	0.921000	0.55340	0.671000	0.25172	-0.349000	0.08274	-1.155000	0.01812	ATC	EXOC2	-	NULL	ENSG00000112685		0.453	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC2	HGNC	protein_coding	OTTHUMT00000039627.1	57	0.00	0	G	NM_018303		564085	564085	-1	no_errors	ENST00000230449	ensembl	human	known	69_37n	missense	61	16.44	12	SNP	0.487	C
EXOC4	60412	genome.wustl.edu	37	7	132937919	132937919	+	Missense_Mutation	SNP	C	C	T	rs183280115		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:132937919C>T	ENST00000253861.4	+	1	91	c.62C>T	c.(61-63)tCg>tTg	p.S21L	EXOC4_ENST00000393161.2_Missense_Mutation_p.S21L|EXOC4_ENST00000539845.1_5'Flank	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	21					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				AAAGACCCCTCGGGGCTGCTC	0.617													C|||	1	0.000199681	0.0	0.0014	5008	,	,		13313	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													74.0	77.0	76.0					7																	132937919		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"""SEC8-like 1 (S. cerevisiae)"""	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.62C>T	7.37:g.132937919C>T	ENSP00000253861:p.Ser21Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Missense_Mutation	SNP	pfam_Sec8_exocyst	p.S21L	ENST00000253861.4	37	c.62	CCDS5829.1	7	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	21.7	4.185798	0.78789	.	.	ENSG00000131558	ENST00000253861;ENST00000393161	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.60766	0.2294	M	0.72894	2.215	0.80722	D	1	D;D	0.57899	0.98;0.981	B;P	0.46685	0.444;0.524	T	0.58014	-0.7711	9	0.10902	T	0.67	.	17.3791	0.87400	0.0:1.0:0.0:0.0	.	21;21	Q96A65;Q8TAR2	EXOC4_HUMAN;.	L	21	.	ENSP00000253861:S21L	S	+	2	0	EXOC4	132588459	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	4.571000	0.60879	2.861000	0.98227	0.650000	0.86243	TCG	EXOC4	-	NULL	ENSG00000131558		0.617	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC4	HGNC	protein_coding	OTTHUMT00000339182.1	59	0.00	0	C	NM_021807		132937919	132937919	+1	no_errors	ENST00000253861	ensembl	human	known	69_37n	missense	61	17.57	13	SNP	1.000	T
EXOC6	54536	genome.wustl.edu	37	10	94774009	94774009	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:94774009C>G	ENST00000260762.6	+	20	2168	c.2154C>G	c.(2152-2154)ttC>ttG	p.F718L	EXOC6_ENST00000371552.4_Missense_Mutation_p.F713L|EXOC6_ENST00000443748.2_Missense_Mutation_p.F615L|EXOC6_ENST00000371547.4_Missense_Mutation_p.F734L	NM_019053.4	NP_061926.3	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	718					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				AGCTAGCATTCATTGACCTCA	0.388																																						dbGAP											0													95.0	101.0	99.0					10																	94774009		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC028395	CCDS7424.2, CCDS31247.1	10q23.33	2013-01-22	2006-11-07	2006-11-07	ENSG00000138190	ENSG00000138190			23196	protein-coding gene	gene with protein product		609672	"""SEC15-like 1 (S. cerevisiae)"""	SEC15L1		8889548	Standard	NM_001013848		Approved	SEC15L, FLJ1125, DKFZp761I2124, MGC33397, Sec15p, EXOC6A	uc001kig.3	Q8TAG9	OTTHUMG00000018767	ENST00000260762.6:c.2154C>G	10.37:g.94774009C>G	ENSP00000260762:p.Phe718Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PHI3|Q5VXH8|Q9NZ24	Missense_Mutation	SNP	pfam_Sec15,pirsf_Sec15	p.F734L	ENST00000260762.6	37	c.2202	CCDS7424.2	10	.	.	.	.	.	.	.	.	.	.	C	23.5	4.427062	0.83667	.	.	ENSG00000138190	ENST00000371547;ENST00000371552;ENST00000443748;ENST00000260762;ENST00000458552	T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11	5.72	3.88	0.44766	.	0.051027	0.85682	N	0.000000	T	0.64382	0.2593	M	0.81239	2.535	0.80722	D	1	D;B;D;D;D;D	0.76494	0.98;0.379;0.991;0.991;0.999;0.998	P;B;D;D;D;D	0.79784	0.817;0.349;0.946;0.946;0.993;0.946	T	0.67806	-0.5575	10	0.72032	D	0.01	-9.5525	12.3126	0.54938	0.0:0.8633:0.0:0.1367	.	734;615;710;671;718;713	F2Z2Q3;E7EW84;B4DEZ1;B2RDH5;Q8TAG9;E9PHI3	.;.;.;.;EXOC6_HUMAN;.	L	734;713;615;718;67	ENSP00000360602:F734L;ENSP00000360607:F713L;ENSP00000396206:F615L;ENSP00000260762:F718L;ENSP00000398982:F67L	ENSP00000260762:F718L	F	+	3	2	EXOC6	94763989	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.302000	0.43637	0.781000	0.33589	0.557000	0.71058	TTC	EXOC6	-	pfam_Sec15,pirsf_Sec15	ENSG00000138190		0.388	EXOC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC6	HGNC	protein_coding	OTTHUMT00000049410.2	123	0.00	0	C	NM_019053		94774009	94774009	+1	no_errors	ENST00000371547	ensembl	human	known	69_37n	missense	60	29.41	25	SNP	1.000	G
EXOC7	23265	genome.wustl.edu	37	17	74080128	74080128	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:74080128C>G	ENST00000335146.7	-	19	2117	c.2064G>C	c.(2062-2064)caG>caC	p.Q688H	EXOC7_ENST00000332065.5_Missense_Mutation_p.Q606H|EXOC7_ENST00000467929.2_Missense_Mutation_p.Q609H|EXOC7_ENST00000405575.4_Missense_Mutation_p.Q646H|EXOC7_ENST00000591724.1_5'Flank|EXOC7_ENST00000607838.1_Missense_Mutation_p.Q660H|EXOC7_ENST00000411744.2_Missense_Mutation_p.Q629H|EXOC7_ENST00000589210.1_Missense_Mutation_p.Q637H			Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	688					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			CAATGGTCTTCTGGGCCTGGC	0.582																																						dbGAP											0													56.0	48.0	51.0					17																	74080128		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC029432	CCDS11741.1, CCDS32738.1, CCDS45781.1, CCDS45782.1, CCDS45784.1, CCDS74164.1	17q25.3	2013-01-22			ENSG00000182473	ENSG00000182473			23214	protein-coding gene	gene with protein product		608163				12477932	Standard	NM_001013839		Approved	EXO70, KIAA1067, YJL085W, Exo70p	uc010wsw.2	Q9UPT5	OTTHUMG00000150720	ENST00000335146.7:c.2064G>C	17.37:g.74080128C>G	ENSP00000334100:p.Gln688His	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MC69|B8XXP2|Q8ND93|Q8WV91|Q96FF0|Q9H8C3|Q9H9X3|Q9HA32	Missense_Mutation	SNP	pfam_Exo70,superfamily_Cullin_repeat-like_dom	p.Q688H	ENST00000335146.7	37	c.2064	CCDS45782.1	17	.	.	.	.	.	.	.	.	.	.	c	19.54	3.846454	0.71603	.	.	ENSG00000182473	ENST00000332065;ENST00000351709;ENST00000405575;ENST00000335146;ENST00000357231;ENST00000425372;ENST00000411744	.	.	.	5.19	5.19	0.71726	Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.69663	0.3136	L	0.51422	1.61	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;1.0;0.996;1.0	D;D;D;D;D;P;D	0.81914	0.973;0.937;0.995;0.938;0.984;0.9;0.973	T	0.72161	-0.4374	9	0.87932	D	0	-24.5131	13.0814	0.59115	0.0:0.9227:0.0:0.0773	.	629;660;609;574;688;606;637	Q9UPT5-5;Q9UPT5-6;B4DJ07;F5H1P1;Q9UPT5;Q9UPT5-2;Q9UPT5-1	.;.;.;.;EXOC7_HUMAN;.;.	H	606;526;660;688;637;574;629	.	ENSP00000333806:Q606H	Q	-	3	2	EXOC7	71591723	1.000000	0.71417	0.990000	0.47175	0.870000	0.49936	4.719000	0.61937	2.427000	0.82271	0.556000	0.70494	CAG	EXOC7	-	pfam_Exo70,superfamily_Cullin_repeat-like_dom	ENSG00000182473		0.582	EXOC7-006	KNOWN	basic|CCDS	protein_coding	EXOC7	HGNC	protein_coding	OTTHUMT00000319768.2	60	0.00	0	C	NM_015219		74080128	74080128	-1	no_errors	ENST00000335146	ensembl	human	known	69_37n	missense	93	18.42	21	SNP	1.000	G
EXOC7	23265	genome.wustl.edu	37	17	74081799	74081799	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:74081799G>T	ENST00000335146.7	-	15	1781	c.1728C>A	c.(1726-1728)ttC>ttA	p.F576L	EXOC7_ENST00000332065.5_Missense_Mutation_p.F494L|EXOC7_ENST00000467929.2_Missense_Mutation_p.F497L|EXOC7_ENST00000405575.4_Missense_Mutation_p.F548L|EXOC7_ENST00000591724.1_5'Flank|EXOC7_ENST00000607838.1_Missense_Mutation_p.F548L|EXOC7_ENST00000411744.2_Missense_Mutation_p.F517L|EXOC7_ENST00000589210.1_Missense_Mutation_p.F525L			Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	576					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			TGTTGTGCAGGAAGATGGCGC	0.557																																						dbGAP											0													123.0	118.0	120.0					17																	74081799		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC029432	CCDS11741.1, CCDS32738.1, CCDS45781.1, CCDS45782.1, CCDS45784.1, CCDS74164.1	17q25.3	2013-01-22			ENSG00000182473	ENSG00000182473			23214	protein-coding gene	gene with protein product		608163				12477932	Standard	NM_001013839		Approved	EXO70, KIAA1067, YJL085W, Exo70p	uc010wsw.2	Q9UPT5	OTTHUMG00000150720	ENST00000335146.7:c.1728C>A	17.37:g.74081799G>T	ENSP00000334100:p.Phe576Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MC69|B8XXP2|Q8ND93|Q8WV91|Q96FF0|Q9H8C3|Q9H9X3|Q9HA32	Missense_Mutation	SNP	pfam_Exo70,superfamily_Cullin_repeat-like_dom	p.F576L	ENST00000335146.7	37	c.1728	CCDS45782.1	17	.	.	.	.	.	.	.	.	.	.	G	21.1	4.100986	0.76983	.	.	ENSG00000182473	ENST00000332065;ENST00000351709;ENST00000405575;ENST00000335146;ENST00000357231;ENST00000425372;ENST00000411744	.	.	.	4.06	2.0	0.26442	Cullin repeat-like-containing domain (1);	0.052265	0.85682	D	0.000000	T	0.75917	0.3915	M	0.83223	2.63	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.989;0.992;0.971;0.989;1.0;0.964;0.999	P;D;P;P;D;P;D	0.81914	0.819;0.979;0.841;0.754;0.995;0.629;0.928	T	0.76266	-0.3022	9	0.87932	D	0	-27.1912	7.543	0.27751	0.3322:0.0:0.6678:0.0	.	517;548;497;462;576;494;525	Q9UPT5-5;Q9UPT5-6;B4DJ07;F5H1P1;Q9UPT5;Q9UPT5-2;Q9UPT5-1	.;.;.;.;EXOC7_HUMAN;.;.	L	494;414;548;576;525;462;517	.	ENSP00000333806:F494L	F	-	3	2	EXOC7	71593394	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	1.785000	0.38684	0.930000	0.37217	0.585000	0.79938	TTC	EXOC7	-	pfam_Exo70,superfamily_Cullin_repeat-like_dom	ENSG00000182473		0.557	EXOC7-006	KNOWN	basic|CCDS	protein_coding	EXOC7	HGNC	protein_coding	OTTHUMT00000319768.2	85	0.00	0	G	NM_015219		74081799	74081799	-1	no_errors	ENST00000335146	ensembl	human	known	69_37n	missense	103	17.60	22	SNP	1.000	T
EXOSC9	5393	genome.wustl.edu	37	4	122722634	122722634	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:122722634G>A	ENST00000243498.5	+	1	163	c.55G>A	c.(55-57)Gaa>Aaa	p.E19K	EXOSC9_ENST00000512454.1_5'Flank|EXOSC9_ENST00000379663.3_Missense_Mutation_p.E19K|EXOSC9_ENST00000509980.1_3'UTR	NM_005033.2	NP_005024.2	Q06265	EXOS9_HUMAN	exosome component 9	19	ARE binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|immune response (GO:0006955)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of cell growth (GO:0030307)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|intermediate filament cytoskeleton (GO:0045111)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|AU-rich element binding (GO:0017091)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						CCGTGCCATCGAAGAGAAGAA	0.617																																						dbGAP											0													70.0	68.0	69.0					4																	122722634		2203	4300	6503	-	-	-	SO:0001583	missense	0			M58460	CCDS3722.2, CCDS34057.1	4q27	2010-05-07	2004-06-16	2004-06-18	ENSG00000123737	ENSG00000123737	3.1.13.-		9137	protein-coding gene	gene with protein product	"""polymyositis/scleroderma autoantigen 1 (75kD)"""	606180	"""polymyositis/scleroderma autoantigen 1, 75kDa"""	PMSCL1			Standard	XR_427545		Approved	PM/Scl-75, Rrp45p, RRP45, p5, p6	uc003idz.3	Q06265	OTTHUMG00000128783	ENST00000243498.5:c.55G>A	4.37:g.122722634G>A	ENSP00000243498:p.Glu19Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q12883|Q4W5P5|Q86Y41|Q86Y48	Missense_Mutation	SNP	pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2	p.E19K	ENST00000243498.5	37	c.55	CCDS3722.2	4	.	.	.	.	.	.	.	.	.	.	G	16.16	3.045756	0.55110	.	.	ENSG00000123737	ENST00000243498;ENST00000379663;ENST00000509800	T;T;T	0.42513	0.97;0.97;0.97	5.83	5.83	0.93111	.	0.228959	0.44097	D	0.000498	T	0.21347	0.0514	N	0.04043	-0.29	0.80722	D	1	B;B	0.26512	0.151;0.033	B;B	0.10450	0.003;0.005	T	0.15752	-1.0426	10	0.06757	T	0.87	-20.4239	18.9071	0.92467	0.0:0.0:1.0:0.0	.	19;19	Q06265;Q06265-2	EXOS9_HUMAN;.	K	19	ENSP00000243498:E19K;ENSP00000368984:E19K;ENSP00000422205:E19K	ENSP00000243498:E19K	E	+	1	0	EXOSC9	122942084	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	3.070000	0.50033	2.755000	0.94549	0.650000	0.86243	GAA	EXOSC9	-	NULL	ENSG00000123737		0.617	EXOSC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOSC9	HGNC	protein_coding	OTTHUMT00000250708.2	35	0.00	0	G	NM_005033		122722634	122722634	+1	no_errors	ENST00000379663	ensembl	human	known	69_37n	missense	28	20.00	7	SNP	1.000	A
EXPH5	23086	genome.wustl.edu	37	11	108384606	108384606	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:108384606C>A	ENST00000265843.4	-	6	1738	c.1628G>T	c.(1627-1629)aGa>aTa	p.R543I	EXPH5_ENST00000428840.1_Missense_Mutation_p.R467I|EXPH5_ENST00000525344.1_Missense_Mutation_p.R536I|EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000443411.1_Missense_Mutation_p.R355I	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	543					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)		TTCTTGGCCTCTGGAAACATC	0.428																																						dbGAP											0													78.0	78.0	78.0					11																	108384606		2201	4298	6499	-	-	-	SO:0001583	missense	0				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.1628G>T	11.37:g.108384606C>A	ENSP00000265843:p.Arg543Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain	p.R543I	ENST00000265843.4	37	c.1628	CCDS8341.1	11	.	.	.	.	.	.	.	.	.	.	C	13.62	2.291350	0.40494	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000439956;ENST00000526312;ENST00000533052	T;T;T;T;T;T	0.05996	3.94;3.86;3.71;3.94;3.75;3.36	5.82	3.92	0.45320	.	0.188257	0.37955	N	0.001867	T	0.18964	0.0455	M	0.69823	2.125	0.19945	N	0.999949	D	0.89917	1.0	D	0.83275	0.996	T	0.03795	-1.1003	10	0.87932	D	0	-14.3735	5.5908	0.17299	0.0:0.6741:0.1819:0.1441	.	543	Q8NEV8	EXPH5_HUMAN	I	543;467;355;536;387;467;355	ENSP00000265843:R543I;ENSP00000391966:R467I;ENSP00000411390:R355I;ENSP00000432546:R536I;ENSP00000432683:R467I;ENSP00000446434:R355I	ENSP00000265843:R543I	R	-	2	0	EXPH5	107889816	0.112000	0.22096	0.043000	0.18650	0.382000	0.30200	1.006000	0.29847	1.431000	0.47355	0.467000	0.42956	AGA	EXPH5	-	NULL	ENSG00000110723		0.428	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXPH5	HGNC	protein_coding	OTTHUMT00000390279.1	42	0.00	0	C	NM_015065		108384606	108384606	-1	no_errors	ENST00000265843	ensembl	human	known	69_37n	missense	46	23.33	14	SNP	0.073	A
EYS	346007	genome.wustl.edu	37	6	64574130	64574130	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:64574130C>G	ENST00000370621.3	-	36	7703	c.7177G>C	c.(7177-7179)Gat>Cat	p.D2393H	EYS_ENST00000370616.2_Missense_Mutation_p.D2393H|EYS_ENST00000503581.1_Missense_Mutation_p.D2393H			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	2393	EGF-like 23. {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						CAGACAATATCTGTTCCGGAT	0.473																																						dbGAP											0													118.0	99.0	105.0					6																	64574130		692	1591	2283	-	-	-	SO:0001583	missense	0				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.7177G>C	6.37:g.64574130C>G	ENSP00000359655:p.Asp2393His	Somatic		WXS	Illumina GAIIx	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_EGF-like_dom,superfamily_ConA-like_lec_gl,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.D2393H	ENST00000370621.3	37	c.7177		6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.79|15.79	2.938020|2.938020	0.52972|0.52972	.|.	.|.	ENSG00000188107|ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616|ENST00000398580	T;T;T|.	0.40476|.	1.03;1.03;1.03|.	4.76|4.76	4.76|4.76	0.60689|0.60689	Concanavalin A-like lectin/glucanase, subgroup (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);|.	0.702716|.	0.10740|.	U|.	0.639527|.	T|T	0.38241|0.38241	0.1033|0.1033	N|N	0.20483|0.20483	0.58|0.58	0.80722|0.80722	D|D	1|1	D;D|.	0.69078|.	0.997;0.984|.	D;P|.	0.63192|.	0.912;0.878|.	T|T	0.32719|0.32719	-0.9896|-0.9896	10|5	0.44086|.	T|.	0.13|.	.|.	15.971|15.971	0.80019|0.80019	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2393;2393|.	Q5T1H1-1;Q5T1H1|.	.;EYS_HUMAN|.	H|H	2393|164	ENSP00000424243:D2393H;ENSP00000359655:D2393H;ENSP00000359650:D2393H|.	ENSP00000359650:D2393H|.	D|Q	-|-	1|3	0|2	EYS|EYS	64632089|64632089	1.000000|1.000000	0.71417|0.71417	0.502000|0.502000	0.27614|0.27614	0.393000|0.393000	0.30537|0.30537	4.596000|4.596000	0.61055|0.61055	2.189000|2.189000	0.69895|0.69895	0.655000|0.655000	0.94253|0.94253	GAT|CAG	EYS	-	smart_EGF-like,pfscan_EG-like_dom	ENSG00000188107		0.473	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	77	0.00	0	C	XM_294050		64574130	64574130	-1	no_errors	ENST00000370616	ensembl	human	known	69_37n	missense	50	36.71	29	SNP	0.995	G
F8	2157	genome.wustl.edu	37	X	154157864	154157864	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:154157864G>C	ENST00000360256.4	-	14	4401	c.4201C>G	c.(4201-4203)Caa>Gaa	p.Q1401E		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1401	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.Q1401E(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CTATTTGCTTGAGGGATGCTA	0.443																																						dbGAP											2	Substitution - Missense(2)	urinary_tract(2)	GRCh37	CM061753	F8	M							157.0	142.0	147.0					X																	154157864		2203	4300	6503	-	-	-	SO:0001583	missense	0			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.4201C>G	X.37:g.154157864G>C	ENSP00000353393:p.Gln1401Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14286|Q5HY69	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.Q1401E	ENST00000360256.4	37	c.4201	CCDS35457.1	X	.	.	.	.	.	.	.	.	.	.	g	2.118	-0.402046	0.04865	.	.	ENSG00000185010	ENST00000360256	D	0.99129	-5.46	4.95	2.94	0.34122	.	1.038830	0.07574	N	0.919100	D	0.97046	0.9035	M	0.62723	1.935	0.09310	N	1	B	0.29716	0.255	B	0.19666	0.026	D	0.92890	0.6330	10	0.20046	T	0.44	-1.3577	6.0444	0.19752	0.0:0.3028:0.5064:0.1909	.	1401	P00451	FA8_HUMAN	E	1401	ENSP00000353393:Q1401E	ENSP00000353393:Q1401E	Q	-	1	0	F8	153811058	0.003000	0.15002	0.028000	0.17463	0.016000	0.09150	0.593000	0.23999	2.040000	0.60383	0.509000	0.49947	CAA	F8	-	NULL	ENSG00000185010		0.443	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F8	HGNC	protein_coding	OTTHUMT00000058869.4	111	0.00	0	G			154157864	154157864	-1	no_errors	ENST00000360256	ensembl	human	known	69_37n	missense	81	22.12	23	SNP	0.001	C
FAF1	11124	genome.wustl.edu	37	1	50907117	50907117	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:50907117C>G	ENST00000396153.2	-	19	2399	c.1948G>C	c.(1948-1950)Gag>Cag	p.E650Q	FAF1_ENST00000545823.1_Missense_Mutation_p.E408Q|FAF1_ENST00000371778.4_Missense_Mutation_p.E650Q	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	650					apoptotic process (GO:0006915)|cell death (GO:0008219)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein complex assembly (GO:0031334)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of cell adhesion (GO:0030155)|regulation of protein catabolic process (GO:0042176)|regulation of protein kinase activity (GO:0045859)	CD95 death-inducing signaling complex (GO:0031265)|Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	heat shock protein binding (GO:0031072)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		CGTGTTTACTCTTTTGCTTCA	0.488																																						dbGAP											0													42.0	38.0	40.0					1																	50907117		2090	4060	6150	-	-	-	SO:0001583	missense	0			AF132938	CCDS554.1	1p32.3	2012-09-20			ENSG00000185104	ENSG00000185104		"""UBX domain containing"""	3578	protein-coding gene	gene with protein product	"""TNFRSF6-associated factor 1"", ""UBX domain protein 3A"""	604460				10462485	Standard	NM_007051		Approved	CGI-03, hFAF1, HFAF1s, UBXD12, UBXN3A	uc001cse.1	Q9UNN5	OTTHUMG00000007930	ENST00000396153.2:c.1948G>C	1.37:g.50907117C>G	ENSP00000379457:p.Glu650Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q549F0|Q9UF34|Q9UNT3|Q9Y2Z3	Missense_Mutation	SNP	pfam_UBX,superfamily_UBA-like,smart_UAS,smart_UBX,pfscan_UBX	p.E650Q	ENST00000396153.2	37	c.1948	CCDS554.1	1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.493433	0.84962	.	.	ENSG00000185104	ENST00000396153;ENST00000371778;ENST00000545823;ENST00000371780;ENST00000543607	.	.	.	5.73	5.73	0.89815	.	0.109676	0.64402	D	0.000009	T	0.64929	0.2643	N	0.22421	0.69	0.48185	D	0.999609	D;D	0.57899	0.981;0.981	D;D	0.67900	0.954;0.954	T	0.66276	-0.5964	9	0.56958	D	0.05	-18.3576	18.4403	0.90664	0.0:1.0:0.0:0.0	.	408;650	B4DEJ6;Q9UNN5	.;FAF1_HUMAN	Q	650;650;408;490;498	.	ENSP00000360843:E650Q	E	-	1	0	FAF1	50679705	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.631000	0.67812	2.861000	0.98227	0.655000	0.94253	GAG	FAF1	-	NULL	ENSG00000185104		0.488	FAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAF1	HGNC	protein_coding	OTTHUMT00000021807.1	49	0.00	0	C	NM_007051		50907117	50907117	-1	no_errors	ENST00000371778	ensembl	human	known	69_37n	missense	46	25.81	16	SNP	1.000	G
FAIM3	9214	genome.wustl.edu	37	1	207087266	207087266	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:207087266C>G	ENST00000367091.3	-	2	354	c.211G>C	c.(211-213)Gaa>Caa	p.E71Q	FAIM3_ENST00000420007.2_Missense_Mutation_p.E71Q|FAIM3_ENST00000528654.1_Intron|FAIM3_ENST00000442471.2_Intron	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3	71	Ig-like.				cellular defense response (GO:0006968)|immune system process (GO:0002376)|negative regulation of apoptotic process (GO:0043066)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					CCCTTGTATTCTGCCTTGATG	0.502																																						dbGAP											0													165.0	148.0	153.0					1																	207087266		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF057557	CCDS1473.1, CCDS44304.1	1q32.1	2013-01-11			ENSG00000162894	ENSG00000162894		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14315	protein-coding gene	gene with protein product		606015				9586636, 1563211	Standard	NM_005449		Approved	TOSO	uc001hey.3	O60667	OTTHUMG00000036457	ENST00000367091.3:c.211G>C	1.37:g.207087266C>G	ENSP00000356058:p.Glu71Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7J2|B7Z6Z0|D9MWM3	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub	p.E71Q	ENST00000367091.3	37	c.211	CCDS1473.1	1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.598428	0.66332	.	.	ENSG00000162894	ENST00000367091;ENST00000420007;ENST00000525793;ENST00000529560;ENST00000530505	T;T;T;T;T	0.19938	2.11;2.11;2.11;2.11;2.11	5.28	4.36	0.52297	Immunoglobulin subtype (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.363837	0.23874	N	0.043710	T	0.32941	0.0846	M	0.64170	1.965	0.20307	N	0.999917	D	0.60575	0.988	P	0.56343	0.796	T	0.08848	-1.0702	10	0.30854	T	0.27	-12.8137	10.2155	0.43166	0.0:0.906:0.0:0.094	.	71	O60667	FAIM3_HUMAN	Q	71;71;71;71;102	ENSP00000356058:E71Q;ENSP00000403356:E71Q;ENSP00000432936:E71Q;ENSP00000437331:E71Q;ENSP00000436316:E102Q	ENSP00000356058:E71Q	E	-	1	0	FAIM3	205153889	0.152000	0.22762	0.497000	0.27552	0.016000	0.09150	1.445000	0.35079	2.467000	0.83353	0.655000	0.94253	GAA	FAIM3	-	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub	ENSG00000162894		0.502	FAIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAIM3	HGNC	protein_coding	OTTHUMT00000088677.1	79	0.00	0	C	NM_005449		207087266	207087266	-1	no_errors	ENST00000367091	ensembl	human	known	69_37n	missense	111	13.95	18	SNP	0.321	G
FAM120C	54954	genome.wustl.edu	37	X	54114265	54114265	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:54114265C>G	ENST00000375180.2	-	12	2616	c.2560G>C	c.(2560-2562)Gat>Cat	p.D854H	FAM120C_ENST00000328235.4_Intron	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	854							poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						AGCTTGCCATCAAAGTAAATC	0.522																																						dbGAP											0													94.0	80.0	85.0					X																	54114265		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"""chromosome X open reading frame 17"""	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.2560G>C	X.37:g.54114265C>G	ENSP00000364324:p.Asp854His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RMT7	Missense_Mutation	SNP	NULL	p.D854H	ENST00000375180.2	37	c.2560	CCDS14356.1	X	.	.	.	.	.	.	.	.	.	.	C	24.0	4.481285	0.84747	.	.	ENSG00000184083	ENST00000375180	T	0.59772	0.24	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.77452	0.4132	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81424	-0.0939	10	0.87932	D	0	-4.7947	16.3136	0.82905	0.0:1.0:0.0:0.0	.	854	Q9NX05	F120C_HUMAN	H	854	ENSP00000364324:D854H	ENSP00000364324:D854H	D	-	1	0	FAM120C	54130990	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	7.535000	0.82014	2.193000	0.70182	0.513000	0.50165	GAT	FAM120C	-	NULL	ENSG00000184083		0.522	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM120C	HGNC	protein_coding	OTTHUMT00000056795.2	67	0.00	0	C	NM_017848		54114265	54114265	-1	no_errors	ENST00000375180	ensembl	human	known	69_37n	missense	97	19.83	24	SNP	1.000	G
FAM120C	54954	genome.wustl.edu	37	X	54117849	54117849	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:54117849G>A	ENST00000375180.2	-	11	2379	c.2323C>T	c.(2323-2325)Cag>Tag	p.Q775*	FAM120C_ENST00000328235.4_Nonsense_Mutation_p.Q775*	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	775							poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CCAGGCCACTGAACCATGTAC	0.448																																						dbGAP											0													85.0	66.0	73.0					X																	54117849		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"""chromosome X open reading frame 17"""	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.2323C>T	X.37:g.54117849G>A	ENSP00000364324:p.Gln775*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RMT7	Nonsense_Mutation	SNP	NULL	p.Q775*	ENST00000375180.2	37	c.2323	CCDS14356.1	X	.	.	.	.	.	.	.	.	.	.	G	40	8.330631	0.98762	.	.	ENSG00000184083	ENST00000375180;ENST00000328235	.	.	.	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-9.4194	16.259	0.82532	0.0:0.0:1.0:0.0	.	.	.	.	X	775	.	ENSP00000329896:Q775X	Q	-	1	0	FAM120C	54134574	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.296000	0.96104	2.171000	0.68590	0.600000	0.82982	CAG	FAM120C	-	NULL	ENSG00000184083		0.448	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM120C	HGNC	protein_coding	OTTHUMT00000056795.2	64	0.00	0	G	NM_017848		54117849	54117849	-1	no_errors	ENST00000375180	ensembl	human	known	69_37n	nonsense	66	19.51	16	SNP	1.000	A
FAM120C	54954	genome.wustl.edu	37	X	54159179	54159179	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:54159179C>A	ENST00000375180.2	-	9	2064	c.2008G>T	c.(2008-2010)Gag>Tag	p.E670*	FAM120C_ENST00000328235.4_Nonsense_Mutation_p.E670*	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	670							poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CTCTGTGTCTCTGCCAGACTA	0.483																																						dbGAP											0													67.0	57.0	61.0					X																	54159179		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"""chromosome X open reading frame 17"""	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.2008G>T	X.37:g.54159179C>A	ENSP00000364324:p.Glu670*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RMT7	Nonsense_Mutation	SNP	NULL	p.E670*	ENST00000375180.2	37	c.2008	CCDS14356.1	X	.	.	.	.	.	.	.	.	.	.	C	40	8.501719	0.98838	.	.	ENSG00000184083	ENST00000375180;ENST00000328235	.	.	.	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-13.5768	16.3631	0.83280	0.0:1.0:0.0:0.0	.	.	.	.	X	670	.	ENSP00000329896:E670X	E	-	1	0	FAM120C	54175904	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.247000	0.78257	2.116000	0.64780	0.600000	0.82982	GAG	FAM120C	-	NULL	ENSG00000184083		0.483	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM120C	HGNC	protein_coding	OTTHUMT00000056795.2	75	0.00	0	C	NM_017848		54159179	54159179	-1	no_errors	ENST00000375180	ensembl	human	known	69_37n	nonsense	61	24.69	20	SNP	1.000	A
AMER3	205147	genome.wustl.edu	37	2	131522018	131522018	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:131522018G>A	ENST00000423981.1	+	2	2483	c.2373G>A	c.(2371-2373)ctG>ctA	p.L791L	AMER3_ENST00000321420.4_Silent_p.L791L	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	791					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										GCAGCCAGCTGGACTCTGAGC	0.677																																						dbGAP											0													15.0	15.0	15.0					2																	131522018		2196	4298	6494	-	-	-	SO:0001819	synonymous_variant	0			AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.2373G>A	2.37:g.131522018G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLH6	Silent	SNP	pfam_Uncharacterised_FAM123	p.L791	ENST00000423981.1	37	c.2373	CCDS2164.1	2																																																																																			FAM123C	-	NULL	ENSG00000178171		0.677	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM123C	HGNC	protein_coding	OTTHUMT00000254531.3	13	0.00	0	G	NM_152698		131522018	131522018	+1	no_errors	ENST00000321420	ensembl	human	known	69_37n	silent	22	21.43	6	SNP	0.056	A
FAM126B	285172	genome.wustl.edu	37	2	201846308	201846308	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:201846308C>T	ENST00000418596.3	-	12	1465	c.1278G>A	c.(1276-1278)aaG>aaA	p.K426K	AC005037.3_ENST00000332935.6_RNA|AC005037.3_ENST00000413848.1_RNA	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	426						intracellular (GO:0005622)				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						TCAGGTGTTTCTTCATTGGTG	0.458																																						dbGAP											0													80.0	78.0	79.0					2																	201846308		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC039295	CCDS2335.1	2q33.1	2008-10-02			ENSG00000155744	ENSG00000155744			28593	protein-coding gene	gene with protein product						12477932	Standard	NM_173822		Approved	MGC39518, HYCC2	uc002uws.4	Q8IXS8	OTTHUMG00000132823	ENST00000418596.3:c.1278G>A	2.37:g.201846308C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCG7|Q4ZG87|Q53TX6	Silent	SNP	pfam_Hyccin	p.K426	ENST00000418596.3	37	c.1278	CCDS2335.1	2																																																																																			FAM126B	-	NULL	ENSG00000155744		0.458	FAM126B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM126B	HGNC	protein_coding	OTTHUMT00000256285.3	86	0.00	0	C	NM_173822		201846308	201846308	-1	no_errors	ENST00000418596	ensembl	human	known	69_37n	silent	84	22.94	25	SNP	1.000	T
FAM127B	26071	genome.wustl.edu	37	X	134186115	134186115	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:134186115C>T	ENST00000370775.2	-	1	90	c.24G>A	c.(22-24)atG>atA	p.M8I	FAM127B_ENST00000520964.1_5'UTR	NM_001078172.1	NP_001071640.1	Q9BWD3	F127B_HUMAN	family with sequence similarity 127, member B	8								p.M8I(1)		breast(3)|endometrium(2)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;0.000127)					GGAGGGCCTTCATCAGCTGCA	0.706																																						dbGAP											1	Substitution - Missense(1)	lung(1)											41.0	44.0	43.0					X																	134186115		1943	4104	6047	-	-	-	SO:0001583	missense	0			AL117556	CCDS43998.1	Xq26.3	2014-05-16			ENSG00000203950	ENSG00000203950			24514	protein-coding gene	gene with protein product						9403077, 15716091	Standard	NM_001078172		Approved	DKFZP564B147, MAR8A, CXX1b	uc004eyf.3	Q9BWD3	OTTHUMG00000022466	ENST00000370775.2:c.24G>A	X.37:g.134186115C>T	ENSP00000375267:p.Met8Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2V9|Q8TBU2	Missense_Mutation	SNP	NULL	p.M8I	ENST00000370775.2	37	c.24	CCDS43998.1	X	.	.	.	.	.	.	.	.	.	.	C	4.137	0.023714	0.08006	.	.	ENSG00000203950	ENST00000370775	T	0.29397	1.57	2.38	1.51	0.23008	.	.	.	.	.	T	0.11410	0.0278	N	0.04508	-0.205	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.35919	-0.9769	9	0.09084	T	0.74	.	6.1142	0.20117	0.0:0.5963:0.4037:0.0	.	6;8	Q6IPB9;Q9BWD3	.;F127B_HUMAN	I	8	ENSP00000375267:M8I	ENSP00000375267:M8I	M	-	3	0	FAM127B	134013781	0.961000	0.32948	0.288000	0.24862	0.045000	0.14185	-0.312000	0.08113	0.433000	0.26313	0.292000	0.19580	ATG	FAM127B	-	NULL	ENSG00000203950		0.706	FAM127B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM127B	HGNC	protein_coding	OTTHUMT00000058393.2	34	0.00	0	C	NM_001078172		134186115	134186115	-1	no_errors	ENST00000370775	ensembl	human	known	69_37n	missense	11	26.67	4	SNP	0.248	T
FAM129A	116496	genome.wustl.edu	37	1	184764170	184764170	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:184764170C>T	ENST00000367511.3	-	14	2921	c.2728G>A	c.(2728-2730)Gac>Aac	p.D910N	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	910					negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TCCTTCACGTCATCTTTGTGT	0.512																																						dbGAP											0													164.0	154.0	157.0					1																	184764170		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"""cell growth inhibiting protein 39"""		"""chromosome 1 open reading frame 24"""	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.2728G>A	1.37:g.184764170C>T	ENSP00000356481:p.Asp910Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Missense_Mutation	SNP	NULL	p.D910N	ENST00000367511.3	37	c.2728	CCDS1364.1	1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.749991	0.49257	.	.	ENSG00000135842	ENST00000367511	T	0.21191	2.02	3.72	3.72	0.42706	.	0.682217	0.13183	N	0.407314	T	0.20700	0.0498	L	0.27053	0.805	0.09310	N	1	P	0.51351	0.944	P	0.49853	0.624	T	0.05131	-1.0904	10	0.45353	T	0.12	-5.9654	9.3015	0.37849	0.2148:0.7851:0.0:0.0	.	910	Q9BZQ8	NIBAN_HUMAN	N	910	ENSP00000356481:D910N	ENSP00000356481:D910N	D	-	1	0	FAM129A	183030793	0.000000	0.05858	0.007000	0.13788	0.002000	0.02628	-0.173000	0.09854	2.031000	0.59945	0.462000	0.41574	GAC	FAM129A	-	NULL	ENSG00000135842		0.512	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM129A	HGNC	protein_coding	OTTHUMT00000085786.1	77	0.00	0	C			184764170	184764170	-1	no_errors	ENST00000367511	ensembl	human	known	69_37n	missense	96	18.64	22	SNP	0.011	T
FAM129C	199786	genome.wustl.edu	37	19	17657552	17657552	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:17657552G>A	ENST00000335393.4	+	14	1843	c.1705G>A	c.(1705-1707)Gag>Aag	p.E569K	FAM129C_ENST00000595684.1_Missense_Mutation_p.E569K|FAM129C_ENST00000599164.1_Missense_Mutation_p.E538K|FAM129C_ENST00000601861.1_Missense_Mutation_p.E538K|FAM129C_ENST00000449408.2_Missense_Mutation_p.E295K|FAM129C_ENST00000352727.3_Missense_Mutation_p.E533K|FAM129C_ENST00000332386.5_Missense_Mutation_p.E569K|FAM129C_ENST00000599124.1_Missense_Mutation_p.E502K|FAM129C_ENST00000600871.1_Missense_Mutation_p.E515K	NM_173544.4	NP_775815	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	569										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						TCTGACCACTGAGGGCATCTA	0.647																																						dbGAP											0													68.0	47.0	54.0					19																	17657552		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY254198	CCDS12362.1, CCDS42521.1	19p13.11	2008-02-05				ENSG00000167483			24130	protein-coding gene	gene with protein product	B cell novel protein 1	609967				12886250	Standard	NM_173544		Approved	FLJ39802, BCNP1	uc021uqj.1	Q86XR2		ENST00000335393.4:c.1705G>A	19.37:g.17657552G>A	ENSP00000335040:p.Glu569Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DNU3|B4DVN7|Q7Z6H6|Q86XR3|Q86XR4|Q8TEQ3	Missense_Mutation	SNP	smart_Pleckstrin_homology	p.E569K	ENST00000335393.4	37	c.1705	CCDS12362.1	19	.	.	.	.	.	.	.	.	.	.	G	7.824	0.718495	0.15372	.	.	ENSG00000167483	ENST00000335393;ENST00000332386;ENST00000352727;ENST00000449408;ENST00000435646	T;T;T;T	0.30448	1.85;1.85;1.73;1.53	4.41	-0.559	0.11792	.	0.418929	0.20128	N	0.098660	T	0.23611	0.0571	M	0.66506	2.035	0.09310	N	1	B;B;B;B;B	0.28350	0.004;0.208;0.01;0.01;0.004	B;B;B;B;B	0.21917	0.006;0.037;0.009;0.009;0.011	T	0.13335	-1.0513	10	0.42905	T	0.14	-15.107	3.7042	0.08394	0.3665:0.1889:0.4446:0.0	.	515;569;569;533;569	E7ENP6;Q86XR2;Q86XR2-3;Q86XR2-4;Q86XR2-2	.;NIBL2_HUMAN;.;.;.	K	569;569;533;295;515	ENSP00000335040:E569K;ENSP00000333447:E569K;ENSP00000341067:E533K;ENSP00000394929:E295K	ENSP00000333447:E569K	E	+	1	0	FAM129C	17518552	0.093000	0.21703	0.000000	0.03702	0.052000	0.14988	0.675000	0.25232	0.034000	0.15491	-0.326000	0.08463	GAG	FAM129C	-	NULL	ENSG00000167483		0.647	FAM129C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM129C	HGNC	protein_coding	OTTHUMT00000464206.1	38	0.00	0	G	NM_173544		17657552	17657552	+1	no_errors	ENST00000335393	ensembl	human	known	69_37n	missense	26	16.13	5	SNP	0.000	A
FAM131C	348487	genome.wustl.edu	37	1	16385199	16385199	+	Silent	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:16385199G>T	ENST00000375662.4	-	7	759	c.576C>A	c.(574-576)atC>atA	p.I192I	FAM131C_ENST00000494078.1_5'UTR	NM_182623.2	NP_872429.2	Q96AQ9	F131C_HUMAN	family with sequence similarity 131, member C	192										large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		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;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		CCTGAAGGTAGATGCTCTCCA	0.632																																						dbGAP											0													18.0	18.0	18.0					1																	16385199		1978	4113	6091	-	-	-	SO:0001819	synonymous_variant	0				CCDS41270.1	1p36.13	2008-02-05	2007-03-20	2007-03-20	ENSG00000185519	ENSG00000185519			26717	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 117"""	C1orf117		12477932	Standard	NM_182623		Approved	FLJ36766	uc001axz.4	Q96AQ9	OTTHUMG00000009525	ENST00000375662.4:c.576C>A	1.37:g.16385199G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T5Q5|Q8N3X3|Q8N9P9	Silent	SNP	superfamily_Chromodomain-like	p.I192	ENST00000375662.4	37	c.576	CCDS41270.1	1																																																																																			FAM131C	-	NULL	ENSG00000185519		0.632	FAM131C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM131C	HGNC	protein_coding	OTTHUMT00000026319.1	51	0.00	0	G	NM_182623		16385199	16385199	-1	no_errors	ENST00000375662	ensembl	human	known	69_37n	silent	35	18.60	8	SNP	0.951	T
FAM149A	25854	genome.wustl.edu	37	4	187086585	187086585	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:187086585G>C	ENST00000356371.5	+	11	2004	c.2004G>C	c.(2002-2004)caG>caC	p.Q668H	FAM149A_ENST00000389354.5_Missense_Mutation_p.Q377H|FAM149A_ENST00000503432.1_Missense_Mutation_p.Q377H|FAM149A_ENST00000502970.1_Missense_Mutation_p.Q377H|FAM149A_ENST00000514153.1_Missense_Mutation_p.Q377H|FAM149A_ENST00000227065.4_Missense_Mutation_p.Q377H			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	668										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		CCAGGGGGCAGAATACAGCAG	0.502																																						dbGAP											0													109.0	103.0	105.0					4																	187086585		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK057166	CCDS34117.1	4q35.1	2012-04-19			ENSG00000109794	ENSG00000109794			24527	protein-coding gene	gene with protein product							Standard	NM_015398		Approved	DKFZP564J102, MST119, MSTP119	uc010isl.3	A5PLN7	OTTHUMG00000160565	ENST00000356371.5:c.2004G>C	4.37:g.187086585G>C	ENSP00000348732:p.Gln668His	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDB8|Q2TAN6|Q7Z2S5|Q9Y4T9	Missense_Mutation	SNP	pfam_DUF3719	p.Q668H	ENST00000356371.5	37	c.2004		4	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	3.377|3.377|3.377	-0.127166|-0.127166|-0.127166	0.06795|0.06795|0.06795	.|.|.	.|.|.	ENSG00000109794|ENSG00000109794|ENSG00000109794	ENST00000512271|ENST00000503432;ENST00000356371;ENST00000227065;ENST00000502970;ENST00000514153;ENST00000389354|ENST00000510843	.|T;T;T;T;T;T|.	.|0.12569|.	.|2.72;2.67;2.72;2.72;2.72;2.72|.	5.55|5.55|5.55	1.9|1.9|1.9	0.25705|0.25705|0.25705	.|.|.	.|0.348390|.	.|0.28236|.	.|N|.	.|0.016093|.	T|T|T	0.31949|0.31949|0.31949	0.0813|0.0813|0.0813	L|L|L	0.38175|0.38175|0.38175	1.15|1.15|1.15	0.09310|0.09310|0.09310	N|N|N	0.999995|0.999995|0.999995	.|B;B|.	.|0.25743|.	.|0.133;0.095|.	.|B;B|.	.|0.24541|.	.|0.054;0.034|.	T|T|T	0.22730|0.22730|0.22730	-1.0208|-1.0208|-1.0208	5|10|5	.|0.23302|.	.|T|.	.|0.38|.	-6.5534|-6.5534|-6.5534	4.9178|4.9178|4.9178	0.13854|0.13854|0.13854	0.238:0.2931:0.4689:0.0|0.238:0.2931:0.4689:0.0|0.238:0.2931:0.4689:0.0	.|.|.	.|668;668|.	.|A5PLN7-3;A5PLN7|.	.|.;F149A_HUMAN|.	Q|H|T	55|377;668;377;377;377;377|55	.|ENSP00000426835:Q377H;ENSP00000348732:Q668H;ENSP00000227065:Q377H;ENSP00000427155:Q377H;ENSP00000424380:Q377H;ENSP00000374005:Q377H|.	.|ENSP00000227065:Q377H|.	E|Q|R	+|+|+	1|3|2	0|2|0	FAM149A|FAM149A|FAM149A	187323579|187323579|187323579	0.258000|0.258000|0.258000	0.24033|0.24033|0.24033	0.162000|0.162000|0.162000	0.22713|0.22713|0.22713	0.256000|0.256000|0.256000	0.26092|0.26092|0.26092	0.420000|0.420000|0.420000	0.21263|0.21263|0.21263	0.145000|0.145000|0.145000	0.18977|0.18977|0.18977	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAA|CAG|AGA	FAM149A	-	NULL	ENSG00000109794		0.502	FAM149A-201	KNOWN	basic	protein_coding	FAM149A	HGNC	protein_coding		83	0.00	0	G	NM_001006655		187086585	187086585	+1	no_errors	ENST00000356371	ensembl	human	known	69_37n	missense	60	29.41	25	SNP	0.121	C
FAM154A	158297	genome.wustl.edu	37	9	18928465	18928465	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:18928465G>C	ENST00000380534.4	-	4	1289	c.1010C>G	c.(1009-1011)tCt>tGt	p.S337C	FAM154A_ENST00000380530.1_3'UTR|FAM154A_ENST00000542071.1_Missense_Mutation_p.S145C	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	337										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		GGTGGTGGAAGAGCCTTCAAA	0.592																																						dbGAP											0													90.0	79.0	83.0					9																	18928465		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC033489	CCDS6487.1, CCDS75819.1, CCDS75820.1	9p22.1	2012-03-23	2008-02-21	2008-02-21	ENSG00000155875	ENSG00000155875			28566	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 138"""	C9orf138		12477932	Standard	NM_153707		Approved	MGC35182	uc003zni.2	Q8IYX7	OTTHUMG00000019609	ENST00000380534.4:c.1010C>G	9.37:g.18928465G>C	ENSP00000369907:p.Ser337Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VY58	Missense_Mutation	SNP	NULL	p.S337C	ENST00000380534.4	37	c.1010	CCDS6487.1	9	.	.	.	.	.	.	.	.	.	.	G	15.45	2.837731	0.50951	.	.	ENSG00000155875	ENST00000380534;ENST00000542071	T;T	0.24350	2.64;1.86	5.09	5.09	0.68999	.	0.000000	0.56097	D	0.000032	T	0.48370	0.1496	M	0.73598	2.24	0.27510	N	0.951726	D	0.89917	1.0	D	0.66847	0.947	T	0.43278	-0.9401	10	0.54805	T	0.06	-29.2345	13.025	0.58810	0.0:0.1621:0.8379:0.0	.	337	Q8IYX7	F154A_HUMAN	C	337;145	ENSP00000369907:S337C;ENSP00000438823:S145C	ENSP00000369907:S337C	S	-	2	0	FAM154A	18918465	1.000000	0.71417	0.895000	0.35142	0.787000	0.44495	2.220000	0.42908	2.640000	0.89533	0.650000	0.86243	TCT	FAM154A	-	NULL	ENSG00000155875		0.592	FAM154A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM154A	HGNC	protein_coding	OTTHUMT00000051811.1	76	0.00	0	G	NM_153707		18928465	18928465	-1	no_errors	ENST00000380534	ensembl	human	known	69_37n	missense	78	17.02	16	SNP	0.668	C
LOC101929008	101929008	genome.wustl.edu	37	16	90172917	90172917	+	lincRNA	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:90172917G>A	ENST00000562203.1	-	0	0																											ACCTACGCAGGAGGCGCCGTC	0.682																																						dbGAP											0																																										-	-	-			0																															16.37:g.90172917G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000562203.1	37	NULL		16																																																																																			FAM157C	-	-	ENSG00000260528		0.682	RP11-356C4.3-001	KNOWN	basic	lincRNA	FAM157C	HGNC	lincRNA	OTTHUMT00000420874.1	21	0.00	0	G			90172917	90172917	+1	no_errors	ENST00000563357	ensembl	human	known	69_37n	rna	16	38.46	10	SNP	0.043	A
FAM160A1	729830	genome.wustl.edu	37	4	152571248	152571248	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:152571248C>G	ENST00000505231.1	+	9	2214	c.2055C>G	c.(2053-2055)ctC>ctG	p.L685L	FAM160A1_ENST00000435205.1_Silent_p.L685L			Q05DH4	F16A1_HUMAN	family with sequence similarity 160, member A1	685										endometrium(2)|kidney(1)	3						GCCCCCTCCTCAGCACCCAGC	0.562																																						dbGAP											0													39.0	48.0	45.0					4																	152571248		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0				CCDS47146.1	4q31.3	2012-11-30			ENSG00000164142	ENSG00000164142			34237	protein-coding gene	gene with protein product							Standard	NM_001109977		Approved	FLJ43373	uc003imj.2	Q05DH4	OTTHUMG00000161675	ENST00000505231.1:c.2055C>G	4.37:g.152571248C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZUS2	Silent	SNP	pfam_RetinoicA-induced_16-like	p.L685	ENST00000505231.1	37	c.2055	CCDS47146.1	4																																																																																			FAM160A1	-	NULL	ENSG00000164142		0.562	FAM160A1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM160A1	HGNC	protein_coding	OTTHUMT00000365691.1	43	0.00	0	C	NM_001109977		152571248	152571248	+1	no_errors	ENST00000435205	ensembl	human	known	69_37n	silent	35	23.91	11	SNP	0.002	G
FAM160A2	84067	genome.wustl.edu	37	11	6238629	6238629	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:6238629G>A	ENST00000449352.2	-	9	2450	c.2187C>T	c.(2185-2187)ctC>ctT	p.L729L	FAM160A2_ENST00000524416.1_Silent_p.L729L|FAM160A2_ENST00000265978.4_Silent_p.L743L|FAM160A2_ENST00000529360.1_5'Flank			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	729					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCAGCTGGTTGAGAGTCCGCA	0.572																																						dbGAP											0													51.0	51.0	51.0					11																	6238629		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0				CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 56"""	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.2187C>T	11.37:g.6238629G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9C0A4|Q9H0N3|Q9H624	Silent	SNP	pfam_RetinoicA-induced_16-like	p.L743	ENST00000449352.2	37	c.2229	CCDS44530.1	11																																																																																			FAM160A2	-	NULL	ENSG00000051009		0.572	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM160A2	HGNC	protein_coding	OTTHUMT00000383759.1	36	0.00	0	G	NM_032127		6238629	6238629	-1	no_errors	ENST00000265978	ensembl	human	known	69_37n	silent	33	17.50	7	SNP	1.000	A
FAM179B	23116	genome.wustl.edu	37	14	45512944	45512944	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:45512944G>A	ENST00000361577.3	+	12	4082	c.3868G>A	c.(3868-3870)Gag>Aag	p.E1290K	FAM179B_ENST00000361462.2_Missense_Mutation_p.E1290K|FAM179B_ENST00000382233.2_3'UTR|KLHL28_ENST00000553817.1_5'Flank	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1290										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						TTTTCATTCTGAGATACTGAA	0.323																																						dbGAP											0													83.0	84.0	84.0					14																	45512944		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.3868G>A	14.37:g.45512944G>A	ENSP00000355045:p.Glu1290Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68D66|Q6PG27	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E1290K	ENST00000361577.3	37	c.3868	CCDS9681.1	14	.	.	.	.	.	.	.	.	.	.	G	17.49	3.401934	0.62288	.	.	ENSG00000198718	ENST00000361577;ENST00000361462	T;T	0.31247	1.5;1.5	5.6	4.71	0.59529	Armadillo-type fold (1);	0.230381	0.42964	D	0.000637	T	0.24044	0.0582	L	0.31664	0.95	0.80722	D	1	B;B	0.16802	0.004;0.019	B;B	0.17722	0.012;0.019	T	0.04191	-1.0970	10	0.56958	D	0.05	-14.2161	12.6593	0.56806	0.0798:0.0:0.9202:0.0	.	1290;1290	G3XAE9;Q9Y4F4	.;F179B_HUMAN	K	1290	ENSP00000355045:E1290K;ENSP00000354917:E1290K	ENSP00000354917:E1290K	E	+	1	0	FAM179B	44582694	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.080000	0.57620	2.652000	0.90054	0.563000	0.77884	GAG	FAM179B	-	superfamily_ARM-type_fold	ENSG00000198718		0.323	FAM179B-001	KNOWN	basic|CCDS	protein_coding	FAM179B	HGNC	protein_coding	OTTHUMT00000276791.1	88	0.00	0	G	XM_113781		45512944	45512944	+1	no_errors	ENST00000361577	ensembl	human	known	69_37n	missense	62	27.91	24	SNP	1.000	A
FAM180B	399888	genome.wustl.edu	37	11	47608280	47608280	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:47608280G>A	ENST00000356737.2	+	1	83	c.83G>A	c.(82-84)aGa>aAa	p.R28K	FAM180B_ENST00000538490.1_Missense_Mutation_p.R5K			Q6P0A1	F180B_HUMAN	family with sequence similarity 180, member B	28						integral component of membrane (GO:0016021)											AGGGAGCAGAGAACTGCTGAA	0.557																																						dbGAP											0													160.0	139.0	145.0					11																	47608280		692	1591	2283	-	-	-	SO:0001583	missense	0			BC065704		11p11.2	2008-07-21			ENSG00000196666	ENSG00000196666			34451	protein-coding gene	gene with protein product	"""hypothetical gene supported by BC065704"""					12477932	Standard	NM_001164379		Approved	LOC399888	uc001ngb.2	Q6P0A1		ENST00000356737.2:c.83G>A	11.37:g.47608280G>A	ENSP00000349175:p.Arg28Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.R28K	ENST00000356737.2	37	c.83		11	.	.	.	.	.	.	.	.	.	.	G	24.7	4.560938	0.86335	.	.	ENSG00000196666	ENST00000356737;ENST00000538490	T;T	0.39787	1.06;1.3	4.94	0.926	0.19430	.	1.031530	0.07748	N	0.948031	T	0.30039	0.0752	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.33059	-0.9883	9	0.87932	D	0	-0.0022	4.0119	0.09626	0.2922:0.1762:0.5316:0.0	.	28	Q6P0A1	F180B_HUMAN	K	28;5	ENSP00000349175:R28K;ENSP00000443133:R5K	ENSP00000349175:R28K	R	+	2	0	FAM180B	47564856	0.002000	0.14202	0.040000	0.18447	0.756000	0.42949	-0.029000	0.12329	0.148000	0.19059	-0.315000	0.08773	AGA	FAM180B	-	NULL	ENSG00000196666		0.557	FAM180B-201	KNOWN	basic|appris_candidate_longest	protein_coding	FAM180B	HGNC	protein_coding		65	0.00	0	G	XM_941808		47608280	47608280	+1	no_errors	ENST00000356737	ensembl	human	known	69_37n	missense	100	31.76	47	SNP	0.001	A
FAM182B	728882	genome.wustl.edu	37	20	25755901	25755901	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:25755901C>T	ENST00000376403.1	-	3	433	c.55G>A	c.(55-57)Gaa>Aaa	p.E19K	FAM182B_ENST00000376404.2_Missense_Mutation_p.E16K|FAM182B_ENST00000478164.1_5'UTR			Q5T319	F182B_HUMAN	family with sequence similarity 182, member B	19										lung(1)	1						ATCCCCACTTCGTGTTCCTCC	0.532																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0					20p11.1	2010-07-14			ENSG00000175170	ENSG00000175170			34503	pseudogene	pseudogene							Standard	NR_027061		Approved			Q5T319	OTTHUMG00000032136	ENST00000376403.1:c.55G>A	20.37:g.25755901C>T	ENSP00000365585:p.Glu19Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G0Q1	Missense_Mutation	SNP	NULL	p.E16K	ENST00000376403.1	37	c.46		20	.	.	.	.	.	.	.	.	.	.	.	2.935	-0.220231	0.06061	.	.	ENSG00000175170	ENST00000376404;ENST00000376403	.	.	.	.	.	.	.	.	.	.	.	T	0.39064	0.1064	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.39187	-0.9626	3	0.87932	D	0	.	.	.	.	.	.	.	.	K	16;19	.	ENSP00000365585:E19K	E	-	1	0	FAM182B	25703901	0.337000	0.24766	0.320000	0.25306	0.329000	0.28539	0.186000	0.16978	0.064000	0.16427	0.064000	0.15345	GAA	FAM182B	-	NULL	ENSG00000175170		0.532	FAM182B-003	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	FAM182B	HGNC	protein_coding	OTTHUMT00000078463.2	111	0.00	0	C	NR_026714		25755901	25755901	-1	no_errors	ENST00000376404	ensembl	human	known	69_37n	missense	127	14.77	22	SNP	0.324	T
FAM186B	84070	genome.wustl.edu	37	12	49998302	49998302	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:49998302G>C	ENST00000257894.2	-	2	277	c.116C>G	c.(115-117)tCa>tGa	p.S39*	FAM186B_ENST00000551047.1_Nonsense_Mutation_p.S39*|PRPF40B_ENST00000508736.1_3'UTR|FAM186B_ENST00000544141.1_5'UTR	NM_032130.2	NP_115506.1	Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	39						protein complex (GO:0043234)				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CAAAATGTCTGAGAGCTGGGT	0.433																																						dbGAP											0													65.0	62.0	63.0					12																	49998302		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AL136748	CCDS8788.1	12q13.12	2008-09-17	2008-09-17	2008-09-17	ENSG00000135436	ENSG00000135436			25296	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 25"""	C12orf25		11230166	Standard	NM_032130		Approved	DKFZP434J0113	uc001ruo.3	Q8IYM0	OTTHUMG00000167427	ENST00000257894.2:c.116C>G	12.37:g.49998302G>C	ENSP00000257894:p.Ser39*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZ15|Q8TCP7|Q9H0L3	Nonsense_Mutation	SNP	NULL	p.S39*	ENST00000257894.2	37	c.116	CCDS8788.1	12	.	.	.	.	.	.	.	.	.	.	G	14.74	2.626697	0.46840	.	.	ENSG00000135436	ENST00000551047;ENST00000257894	.	.	.	5.6	4.7	0.59300	.	0.460964	0.16273	N	0.221700	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.1616	13.8852	0.63704	0.08:0.0:0.92:0.0	.	.	.	.	X	39	.	.	S	-	2	0	FAM186B	48284569	0.830000	0.29337	0.962000	0.40283	0.194000	0.23727	1.189000	0.32114	0.858000	0.35431	-0.797000	0.03246	TCA	FAM186B	-	NULL	ENSG00000135436		0.433	FAM186B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM186B	HGNC	protein_coding	OTTHUMT00000394583.2	35	0.00	0	G	NM_032130		49998302	49998302	-1	no_errors	ENST00000257894	ensembl	human	known	69_37n	nonsense	52	18.75	12	SNP	0.981	C
CCSER2	54462	genome.wustl.edu	37	10	86131658	86131658	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:86131658G>T	ENST00000224756.8	+	2	1035	c.850G>T	c.(850-852)Gaa>Taa	p.E284*	CCSER2_ENST00000359979.4_Nonsense_Mutation_p.E284*|CCSER2_ENST00000372088.2_Nonsense_Mutation_p.E284*	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2	Q9H7U1	CCSE2_HUMAN	coiled-coil serine-rich protein 2	284					microtubule bundle formation (GO:0001578)	microtubule cytoskeleton (GO:0015630)											CAATGGGAATGAACATTTGGG	0.423																																						dbGAP											0													105.0	104.0	105.0					10																	86131658		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS31235.1, CCDS60582.1, CCDS60583.1, CCDS73159.1	10q23.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000107771	ENSG00000107771			29197	protein-coding gene	gene with protein product			"""KIAA1128"", ""family with sequence similarity 190, member B"""	KIAA1128, FAM190B		10574461	Standard	XM_005269905		Approved		uc001kdh.1	Q9H7U1	OTTHUMG00000018641	ENST00000224756.8:c.850G>T	10.37:g.86131658G>T	ENSP00000224756:p.Glu284*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DFY4|B4DQU9|B7WPE8|D3DWE2|Q8N6E9|Q9H2S0|Q9ULU1	Nonsense_Mutation	SNP	NULL	p.E284*	ENST00000224756.8	37	c.850	CCDS31235.1	10	.	.	.	.	.	.	.	.	.	.	G	37	6.469141	0.97590	.	.	ENSG00000107771	ENST00000359979;ENST00000224756;ENST00000372088	.	.	.	5.97	5.97	0.96955	.	0.278377	0.31949	N	0.006807	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-13.3689	17.9326	0.89002	0.0:0.0:1.0:0.0	.	.	.	.	X	284	.	ENSP00000224756:E284X	E	+	1	0	FAM190B	86121638	1.000000	0.71417	0.936000	0.37596	0.989000	0.77384	4.947000	0.63583	2.836000	0.97738	0.655000	0.94253	GAA	FAM190B	-	NULL	ENSG00000107771		0.423	CCSER2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM190B	HGNC	protein_coding	OTTHUMT00000049132.2	76	0.00	0	G	NM_018999		86131658	86131658	+1	no_errors	ENST00000372088	ensembl	human	known	69_37n	nonsense	42	17.65	9	SNP	0.999	T
CCSER2	54462	genome.wustl.edu	37	10	86133447	86133447	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:86133447C>T	ENST00000224756.8	+	3	1675	c.1490C>T	c.(1489-1491)tCt>tTt	p.S497F	CCSER2_ENST00000359979.4_Missense_Mutation_p.S497F|CCSER2_ENST00000372088.2_Missense_Mutation_p.S497F	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2	Q9H7U1	CCSE2_HUMAN	coiled-coil serine-rich protein 2	497					microtubule bundle formation (GO:0001578)	microtubule cytoskeleton (GO:0015630)											AGAGCTGGTTCTTCGTTTGAA	0.413																																						dbGAP											0													109.0	100.0	103.0					10																	86133447		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS31235.1, CCDS60582.1, CCDS60583.1, CCDS73159.1	10q23.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000107771	ENSG00000107771			29197	protein-coding gene	gene with protein product			"""KIAA1128"", ""family with sequence similarity 190, member B"""	KIAA1128, FAM190B		10574461	Standard	XM_005269905		Approved		uc001kdh.1	Q9H7U1	OTTHUMG00000018641	ENST00000224756.8:c.1490C>T	10.37:g.86133447C>T	ENSP00000224756:p.Ser497Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DFY4|B4DQU9|B7WPE8|D3DWE2|Q8N6E9|Q9H2S0|Q9ULU1	Missense_Mutation	SNP	NULL	p.S497F	ENST00000224756.8	37	c.1490	CCDS31235.1	10	.	.	.	.	.	.	.	.	.	.	C	24.2	4.510009	0.85282	.	.	ENSG00000107771	ENST00000359979;ENST00000224756;ENST00000372088	T;T;T	0.69926	-0.44;1.58;1.48	5.35	5.35	0.76521	.	0.155511	0.44097	D	0.000489	T	0.80711	0.4675	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.998;0.998	T	0.82557	-0.0398	10	0.87932	D	0	-15.117	16.5609	0.84566	0.0:1.0:0.0:0.0	.	497;497;497	Q9H7U1-3;Q9H7U1;Q9H7U1-2	.;F190B_HUMAN;.	F	497	ENSP00000353068:S497F;ENSP00000224756:S497F;ENSP00000361160:S497F	ENSP00000224756:S497F	S	+	2	0	FAM190B	86123427	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.261000	0.78400	2.506000	0.84524	0.585000	0.79938	TCT	FAM190B	-	NULL	ENSG00000107771		0.413	CCSER2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM190B	HGNC	protein_coding	OTTHUMT00000049132.2	103	0.00	0	C	NM_018999		86133447	86133447	+1	no_errors	ENST00000372088	ensembl	human	known	69_37n	missense	55	26.67	20	SNP	1.000	T
FAM199X	139231	genome.wustl.edu	37	X	103411548	103411548	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:103411548C>G	ENST00000493442.1	+	1	248	c.82C>G	c.(82-84)Cgc>Ggc	p.R28G		NM_207318.3	NP_997201.1	Q6PEV8	F199X_HUMAN	family with sequence similarity 199, X-linked	28										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						GGGACCTCCTCGCGGGGTGGG	0.672																																						dbGAP											0													22.0	22.0	22.0					X																	103411548		2201	4299	6500	-	-	-	SO:0001583	missense	0			BC016683	CCDS35364.1	Xq22	2010-02-11	2010-02-11	2010-02-11	ENSG00000123575	ENSG00000123575			25195	protein-coding gene	gene with protein product			"""chromosome X open reading frame 39"""	CXorf39			Standard	NM_207318		Approved		uc004elw.3	Q6PEV8	OTTHUMG00000022126	ENST00000493442.1:c.82C>G	X.37:g.103411548C>G	ENSP00000417581:p.Arg28Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WVP6|Q96AV3	Missense_Mutation	SNP	NULL	p.R28G	ENST00000493442.1	37	c.82	CCDS35364.1	X	.	.	.	.	.	.	.	.	.	.	C	14.79	2.640186	0.47153	.	.	ENSG00000123575	ENST00000493442	T	0.44881	0.91	3.8	3.8	0.43715	.	0.119276	0.38058	N	0.001834	T	0.33904	0.0879	L	0.51422	1.61	0.51012	D	0.999905	B	0.13594	0.008	B	0.15052	0.012	T	0.12941	-1.0528	9	.	.	.	-8.784	9.5016	0.39022	0.2109:0.7891:0.0:0.0	.	28	Q6PEV8	F199X_HUMAN	G	28	ENSP00000417581:R28G	.	R	+	1	0	FAM199X	103298204	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.718000	0.54919	1.906000	0.55180	0.429000	0.28392	CGC	FAM199X	-	NULL	ENSG00000123575		0.672	FAM199X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM199X	HGNC	protein_coding	OTTHUMT00000057764.1	16	0.00	0	C	NM_207318		103411548	103411548	+1	no_errors	ENST00000493442	ensembl	human	known	69_37n	missense	7	41.67	5	SNP	1.000	G
FAM200B	285550	genome.wustl.edu	37	4	15690533	15690533	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:15690533G>A	ENST00000422728.2	+	2	2771	c.1933G>A	c.(1933-1935)Gac>Aac	p.D645N	FAM200B_ENST00000504137.1_3'UTR	NM_001145191.1	NP_001138663.1	P0CF97	F200B_HUMAN	family with sequence similarity 200, member B	645							nucleic acid binding (GO:0003676)			endometrium(1)|kidney(1)	2						ctgtgttccagactggaatga	0.358																																						dbGAP											0													83.0	72.0	75.0					4																	15690533		692	1591	2283	-	-	-	SO:0001583	missense	0			BC048993	CCDS47028.1	4p15.32	2014-04-02			ENSG00000237765	ENSG00000237765			27740	protein-coding gene	gene with protein product	"""chromosome 4 open reading frame 53"""						Standard	NM_001145191		Approved	C4orf53	uc003gof.4	P0CF97	OTTHUMG00000160279	ENST00000422728.2:c.1933G>A	4.37:g.15690533G>A	ENSP00000393017:p.Asp645Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	superfamily_RNaseH-like_dom,superfamily_PAH	p.D645N	ENST00000422728.2	37	c.1933	CCDS47028.1	4	.	.	.	.	.	.	.	.	.	.	G	8.393	0.840205	0.16891	.	.	ENSG00000237765	ENST00000422728	T	0.15834	2.39	2.73	1.87	0.25490	.	.	.	.	.	T	0.12092	0.0294	L	0.37897	1.145	0.21184	N	0.999764	B	0.27316	0.175	B	0.27887	0.084	T	0.30650	-0.9971	8	.	.	.	.	5.6015	0.17357	0.1574:0.0:0.8426:0.0	.	645	P0CF97	F200B_HUMAN	N	645	ENSP00000393017:D645N	.	D	+	1	0	FAM200B	15299631	0.995000	0.38212	0.996000	0.52242	0.983000	0.72400	0.974000	0.29436	0.712000	0.32039	0.555000	0.69702	GAC	FAM200B	-	NULL	ENSG00000237765		0.358	FAM200B-005	PUTATIVE	basic|appris_principal|CCDS	protein_coding	FAM200B	HGNC	protein_coding	OTTHUMT00000360100.1	59	0.00	0	G	NM_001145191		15690533	15690533	+1	no_errors	ENST00000422728	ensembl	human	putative	69_37n	missense	54	18.18	12	SNP	0.996	A
FAM205A	259308	genome.wustl.edu	37	9	34724770	34724770	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:34724770C>G	ENST00000378788.3	-	4	2506	c.2467G>C	c.(2467-2469)Gag>Cag	p.E823Q		NM_001141917.1	NP_001135389.1	Q6ZU69	F205A_HUMAN	family with sequence similarity 205, member A	823						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(1)	4						ATCAGAGGCTCTGCTGGGATT	0.512																																						dbGAP											0													45.0	37.0	39.0					9																	34724770		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS55305.1	9p13.3	2014-05-16			ENSG00000205108	ENSG00000205108			41911	protein-coding gene	gene with protein product							Standard	NM_001141917		Approved	C9orf144B	uc011lor.2	Q6ZU69	OTTHUMG00000000448	ENST00000378788.3:c.2467G>C	9.37:g.34724770C>G	ENSP00000417711:p.Glu823Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MVW7	Missense_Mutation	SNP	NULL	p.E823Q	ENST00000378788.3	37	c.2467	CCDS55305.1	9	.	.	.	.	.	.	.	.	.	.	C	14.94	2.686369	0.47991	.	.	ENSG00000205108	ENST00000378788	T	0.46063	0.88	4.7	3.79	0.43588	.	.	.	.	.	T	0.42539	0.1207	L	0.50333	1.59	0.09310	N	1	P	0.51933	0.949	P	0.48189	0.57	T	0.21143	-1.0254	9	0.46703	T	0.11	.	8.2857	0.31928	0.0:0.8849:0.0:0.1151	.	823	Q6ZU69	F205A_HUMAN	Q	823	ENSP00000417711:E823Q	ENSP00000417711:E823Q	E	-	1	0	RP11-195F19.10	34714770	0.000000	0.05858	0.022000	0.16811	0.032000	0.12392	0.133000	0.15912	1.074000	0.40909	0.650000	0.86243	GAG	FAM205A	-	NULL	ENSG00000205108		0.512	FAM205A-001	NOVEL	basic|appris_principal|CCDS	protein_coding	FAM205A	HGNC	protein_coding	OTTHUMT00000001150.2	65	0.00	0	C	NM_001141917		34724770	34724770	-1	no_errors	ENST00000378788	ensembl	human	novel	69_37n	missense	77	12.50	11	SNP	0.038	G
CCDC66	285331	genome.wustl.edu	37	3	56657553	56657553	+	IGR	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:56657553G>C	ENST00000394672.3	+	0	3096				FAM208A_ENST00000355628.5_Missense_Mutation_p.L1448V|FAM208A_ENST00000493960.2_3'UTR|FAM208A_ENST00000485156.1_5'UTR|FAM208A_ENST00000431842.2_Missense_Mutation_p.L1072V	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66						post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548)					breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		CCTGAATCCAGAGACATATCC	0.338																																						dbGAP											0													120.0	124.0	122.0					3																	56657553		2203	4299	6502	-	-	-	SO:0001628	intergenic_variant	0			AL832692	CCDS33770.2, CCDS46852.1	3p14.3	2006-03-27			ENSG00000180376	ENSG00000180376			27709	protein-coding gene	gene with protein product						14702039	Standard	NR_024460		Approved	DKFZp686C0433	uc003dhz.3	A2RUB6	OTTHUMG00000155748		3.37:g.56657553G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWL8|Q4VC34|Q8N949	Missense_Mutation	SNP	pfam_DUF3715	p.L1448V	ENST00000394672.3	37	c.4342	CCDS46852.1	3	.	.	.	.	.	.	.	.	.	.	G	14.47	2.546105	0.45383	.	.	ENSG00000163946	ENST00000431842;ENST00000355628	T;T	0.17854	2.25;2.41	5.93	5.93	0.95920	.	0.262442	0.27258	N	0.020184	T	0.39886	0.1095	.	.	.	0.34296	D	0.683766	D;D;D	0.76494	0.999;0.994;0.998	D;D;P	0.66351	0.938;0.943;0.869	T	0.52697	-0.8541	9	0.72032	D	0.01	-5.4031	14.1781	0.65557	0.072:0.0:0.928:0.0	.	1448;1072;1509	Q9UK61-4;Q9UK61-2;Q9UK61	.;.;F208A_HUMAN	V	1072;1448	ENSP00000399410:L1072V;ENSP00000347845:L1448V	ENSP00000347845:L1448V	L	-	1	2	C3orf63	56632593	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.143000	0.42187	2.814000	0.96858	0.591000	0.81541	CTG	FAM208A	-	NULL	ENSG00000163946		0.338	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM208A	HGNC	protein_coding	OTTHUMT00000341473.1	105	0.00	0	G	NM_001012506		56657553	56657553	-1	no_errors	ENST00000355628	ensembl	human	known	69_37n	missense	85	20.56	22	SNP	1.000	C
FAM208A	23272	genome.wustl.edu	37	3	56667448	56667448	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:56667448G>A	ENST00000493960.2	-	18	3381	c.3371C>T	c.(3370-3372)tCc>tTc	p.S1124F	FAM208A_ENST00000355628.5_Missense_Mutation_p.S1063F|FAM208A_ENST00000431842.2_Missense_Mutation_p.S687F	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	1124							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						GTCACTTGAGGAAACTGGTAT	0.448																																						dbGAP											0													134.0	128.0	130.0					3																	56667448		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 63"""	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.3371C>T	3.37:g.56667448G>A	ENSP00000417509:p.Ser1124Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Missense_Mutation	SNP	pfam_DUF3715	p.S1063F	ENST00000493960.2	37	c.3188	CCDS46853.1	3	.	.	.	.	.	.	.	.	.	.	G	10.51	1.371073	0.24771	.	.	ENSG00000163946	ENST00000431842;ENST00000493960;ENST00000355628	T;T;T	0.12984	2.63;2.81;2.81	5.71	4.83	0.62350	.	0.088880	0.49916	D	0.000121	T	0.30262	0.0759	L	0.59436	1.845	0.41118	D	0.985794	D;D;D;D	0.89917	0.998;0.999;1.0;0.998	D;D;D;P	0.91635	0.953;0.988;0.999;0.898	T	0.03034	-1.1080	10	0.66056	D	0.02	-1.8202	8.6098	0.33795	0.1016:0.1532:0.7451:0.0	.	1124;1063;687;1124	Q9UK61-3;Q9UK61-4;Q9UK61-2;Q9UK61	.;.;.;F208A_HUMAN	F	687;1124;1063	ENSP00000399410:S687F;ENSP00000417509:S1124F;ENSP00000347845:S1063F	ENSP00000347845:S1063F	S	-	2	0	C3orf63	56642488	0.981000	0.34729	0.967000	0.41034	0.586000	0.36452	2.710000	0.47169	1.534000	0.49203	0.650000	0.86243	TCC	FAM208A	-	NULL	ENSG00000163946		0.448	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	FAM208A	HGNC	protein_coding	OTTHUMT00000352352.2	79	0.00	0	G	NM_015224		56667448	56667448	-1	no_errors	ENST00000355628	ensembl	human	known	69_37n	missense	122	14.08	20	SNP	0.830	A
FAM208B	54906	genome.wustl.edu	37	10	5781904	5781904	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:5781904C>G	ENST00000328090.5	+	13	2396	c.1771C>G	c.(1771-1773)Caa>Gaa	p.Q591E	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	591																	AGTTAAAACTCAAAAAGGTGA	0.373																																						dbGAP											0													85.0	78.0	80.0					10																	5781904		1840	4090	5930	-	-	-	SO:0001583	missense	0			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.1771C>G	10.37:g.5781904C>G	ENSP00000328426:p.Gln591Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	pfam_DUF3715,pfam_DUF3699	p.Q591E	ENST00000328090.5	37	c.1771	CCDS41485.1	10	.	.	.	.	.	.	.	.	.	.	C	8.880	0.951419	0.18431	.	.	ENSG00000108021	ENST00000328090	D	0.97598	-4.45	5.84	3.93	0.45458	.	0.943638	0.08896	N	0.877934	D	0.95611	0.8573	M	0.66939	2.045	0.21355	N	0.999717	P	0.49185	0.92	B	0.42462	0.388	D	0.88608	0.3154	10	0.46703	T	0.11	.	6.93	0.24435	0.314:0.6063:0.0:0.0797	.	591	Q5VWN6	F208B_HUMAN	E	591	ENSP00000328426:Q591E	ENSP00000328426:Q591E	Q	+	1	0	C10orf18	5821910	0.002000	0.14202	0.773000	0.31616	0.073000	0.16967	1.049000	0.30392	0.750000	0.32877	0.591000	0.81541	CAA	FAM208B	-	pfam_DUF3715	ENSG00000108021		0.373	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM208B	HGNC	protein_coding	OTTHUMT00000046571.2	58	0.00	0	C	NM_017782		5781904	5781904	+1	no_errors	ENST00000328090	ensembl	human	known	69_37n	missense	34	27.66	13	SNP	0.550	G
FAM208B	54906	genome.wustl.edu	37	10	5789809	5789809	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:5789809C>G	ENST00000328090.5	+	15	5050	c.4425C>G	c.(4423-4425)gtC>gtG	p.V1475V		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	1475																	AAATGCAGGTCTCTGCCGAAA	0.423																																						dbGAP											0													52.0	51.0	51.0					10																	5789809		1884	4110	5994	-	-	-	SO:0001819	synonymous_variant	0			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.4425C>G	10.37:g.5789809C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Silent	SNP	pfam_DUF3715,pfam_DUF3699	p.V1475	ENST00000328090.5	37	c.4425	CCDS41485.1	10																																																																																			FAM208B	-	NULL	ENSG00000108021		0.423	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM208B	HGNC	protein_coding	OTTHUMT00000046571.2	61	0.00	0	C	NM_017782		5789809	5789809	+1	no_errors	ENST00000328090	ensembl	human	known	69_37n	silent	34	29.17	14	SNP	0.000	G
FAM214A	56204	genome.wustl.edu	37	15	52901591	52901591	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:52901591G>C	ENST00000261844.7	-	6	1672	c.1520C>G	c.(1519-1521)tCa>tGa	p.S507*	FAM214A_ENST00000546305.2_Nonsense_Mutation_p.S514*	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	507																	CATGTTGAATGACTGCCGGGG	0.418																																						dbGAP											0													172.0	169.0	170.0					15																	52901591		1957	4147	6104	-	-	-	SO:0001587	stop_gained	0			AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"""KIAA1370"""	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.1520C>G	15.37:g.52901591G>C	ENSP00000261844:p.Ser507*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Nonsense_Mutation	SNP	NULL	p.S507*	ENST00000261844.7	37	c.1520	CCDS45263.1	15	.	.	.	.	.	.	.	.	.	.	G	36	5.918407	0.97105	.	.	ENSG00000047346	ENST00000261844;ENST00000399202;ENST00000534964;ENST00000546305	.	.	.	5.87	5.87	0.94306	.	0.759877	0.13342	N	0.395058	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	14.7159	0.69269	0.069:0.0:0.931:0.0	.	.	.	.	X	507;507;506;514	.	ENSP00000261844:S507X	S	-	2	0	KIAA1370	50688883	0.958000	0.32768	0.049000	0.19019	0.583000	0.36354	3.548000	0.53670	2.941000	0.99782	0.655000	0.94253	TCA	FAM214A	-	NULL	ENSG00000047346		0.418	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM214A	HGNC	protein_coding	OTTHUMT00000419914.1	47	0.00	0	G	NM_019600		52901591	52901591	-1	no_errors	ENST00000261844	ensembl	human	known	69_37n	nonsense	41	21.15	11	SNP	0.092	C
FAM221A	340277	genome.wustl.edu	37	7	23737855	23737855	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:23737855G>T	ENST00000344962.4	+	5	771	c.682G>T	c.(682-684)Gac>Tac	p.D228Y	FAM221A_ENST00000409192.3_Intron|FAM221A_ENST00000409994.3_Intron|FAM221A_ENST00000409653.1_Missense_Mutation_p.D170Y	NM_199136.3	NP_954587.2	A4D161	F221A_HUMAN	family with sequence similarity 221, member A	228																	TACGGCAGTAGACAGCCCATT	0.343																																						dbGAP											0													133.0	137.0	136.0					7																	23737855		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS5385.1, CCDS47561.1, CCDS47562.1, CCDS75570.1	7p15.3	2012-04-02	2012-04-02	2012-04-02	ENSG00000188732	ENSG00000188732			27977	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 46"""	C7orf46		12477932	Standard	XR_242080		Approved	FLJ45875, MGC72075, DKFZp686F0810	uc003swo.4	A4D161	OTTHUMG00000128463	ENST00000344962.4:c.682G>T	7.37:g.23737855G>T	ENSP00000342576:p.Asp228Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q05CG4|Q4G0Q7|Q6P519	Missense_Mutation	SNP	NULL	p.D228Y	ENST00000344962.4	37	c.682	CCDS5385.1	7	.	.	.	.	.	.	.	.	.	.	G	16.41	3.115559	0.56505	.	.	ENSG00000188732	ENST00000344962;ENST00000409653	T;T	0.20881	2.08;2.04	5.96	5.96	0.96718	.	0.136422	0.51477	D	0.000085	T	0.46852	0.1414	M	0.78049	2.395	0.80722	D	1	P	0.50156	0.932	P	0.56278	0.795	T	0.40059	-0.9583	10	0.87932	D	0	-18.6392	20.422	0.99049	0.0:0.0:1.0:0.0	.	228	A4D161	CG046_HUMAN	Y	228;170	ENSP00000342576:D228Y;ENSP00000386900:D170Y	ENSP00000342576:D228Y	D	+	1	0	C7orf46	23704380	1.000000	0.71417	0.949000	0.38748	0.022000	0.10575	4.795000	0.62489	2.832000	0.97577	0.655000	0.94253	GAC	FAM221A	-	NULL	ENSG00000188732		0.343	FAM221A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM221A	HGNC	protein_coding	OTTHUMT00000250261.1	123	0.00	0	G	NM_199136		23737855	23737855	+1	no_errors	ENST00000344962	ensembl	human	known	69_37n	missense	80	22.33	23	SNP	0.999	T
FAM227B	196951	genome.wustl.edu	37	15	49903435	49903435	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:49903435C>G	ENST00000299338.6	-	3	385	c.82G>C	c.(82-84)Gaa>Caa	p.E28Q	FAM227B_ENST00000561064.1_Missense_Mutation_p.E28Q|FAM227B_ENST00000558594.1_Missense_Mutation_p.E28Q|FAM227B_ENST00000560246.1_Missense_Mutation_p.E28Q|FAM227B_ENST00000558862.1_5'UTR	NM_152647.2	NP_689860.2	Q96M60	F227B_HUMAN	family with sequence similarity 227, member B	28																	TTTAAGAATTCTTCAATGCTC	0.279																																						dbGAP											0													58.0	59.0	59.0					15																	49903435		2194	4284	6478	-	-	-	SO:0001583	missense	0				CCDS32237.1	15q21.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000166262	ENSG00000166262			26543	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 33"""	C15orf33			Standard	NM_152647		Approved	FLJ32800	uc001zxl.2	Q96M60	OTTHUMG00000172328	ENST00000299338.6:c.82G>C	15.37:g.49903435C>G	ENSP00000299338:p.Glu28Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86WS2	Missense_Mutation	SNP	NULL	p.E28Q	ENST00000299338.6	37	c.82	CCDS32237.1	15	.	.	.	.	.	.	.	.	.	.	C	13.48	2.248374	0.39797	.	.	ENSG00000166262	ENST00000299338;ENST00000354658	.	.	.	4.62	4.62	0.57501	.	0.386572	0.22232	N	0.062811	T	0.75236	0.3822	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.75816	-0.3184	9	0.54805	T	0.06	0.4101	13.1629	0.59554	0.0:1.0:0.0:0.0	.	28;28	Q96M60-2;Q96M60	.;CO033_HUMAN	Q	28	.	ENSP00000299338:E28Q	E	-	1	0	C15orf33	47690727	1.000000	0.71417	1.000000	0.80357	0.075000	0.17131	3.468000	0.53086	2.556000	0.86216	0.561000	0.74099	GAA	FAM227B	-	NULL	ENSG00000166262		0.279	FAM227B-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	FAM227B	HGNC	protein_coding	OTTHUMT00000417872.1	96	0.00	0	C	NM_152647		49903435	49903435	-1	no_errors	ENST00000299338	ensembl	human	known	69_37n	missense	68	17.07	14	SNP	1.000	G
NUTM2F	54754	genome.wustl.edu	37	9	97081091	97081091	+	Missense_Mutation	SNP	C	C	T	rs546172389	byFrequency	TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:97081091C>T	ENST00000253262.4	-	7	1947	c.1927G>A	c.(1927-1929)Gtg>Atg	p.V643M	NUTM2F_ENST00000335456.7_Intron|NUTM2F_ENST00000341207.4_Missense_Mutation_p.V628M	NM_017561.1	NP_060031.1	A1L443	NTM2F_HUMAN	NUT family member 2F	643																	TGGGAACCCACGACATAGACC	0.637													C|||	2	0.000399361	0.0015	0.0	5008	,	,		16146	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													11.0	10.0	10.0					9																	97081091		1719	3827	5546	-	-	-	SO:0001583	missense	0				CCDS47994.1	9q22.32	2013-05-02	2013-03-14	2013-05-02	ENSG00000130950	ENSG00000130950			23450	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member F"""	FAM22F			Standard	NM_017561		Approved	DKFZp434I1117		A1L443	OTTHUMG00000020260	ENST00000253262.4:c.1927G>A	9.37:g.97081091C>T	ENSP00000253262:p.Val643Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B6ZDF0|Q5SR58|Q5SR59|Q9UFB1	Missense_Mutation	SNP	NULL	p.V643M	ENST00000253262.4	37	c.1927	CCDS47994.1	9	.	.	.	.	.	.	.	.	.	.	C	6.035	0.374835	0.11409	.	.	ENSG00000130950	ENST00000253262;ENST00000341207;ENST00000375347	T;T	0.11930	2.73;2.73	1.52	-3.04	0.05412	Nuclear Testis protein, C-terminal (1);	0.352697	0.20801	N	0.085433	T	0.07052	0.0179	L	0.44542	1.39	0.09310	N	1	P	0.41524	0.753	B	0.35039	0.194	T	0.19192	-1.0313	10	0.59425	D	0.04	.	0.5918	0.00729	0.1871:0.2514:0.3377:0.2238	.	643	A1L443	FA22F_HUMAN	M	643;628;477	ENSP00000253262:V643M;ENSP00000343865:V628M	ENSP00000253262:V643M	V	-	1	0	FAM22F	96120912	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-1.827000	0.01704	-0.810000	0.04375	-0.518000	0.04402	GTG	FAM22F	-	NULL	ENSG00000130950		0.637	NUTM2F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM22F	HGNC	protein_coding	OTTHUMT00000053173.2	41	0.00	0	C	NM_017561		97081091	97081091	-1	no_errors	ENST00000253262	ensembl	human	known	69_37n	missense	32	30.43	14	SNP	0.002	T
FAM35BP	414241	genome.wustl.edu	37	10	46918625	46918625	+	lincRNA	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:46918625C>T	ENST00000605984.1	-	0	0				FAM35BP_ENST00000475914.1_RNA																							ATTATGGGGTCCTGGAGCAGC	0.378																																						dbGAP											0																																										-	-	-			0																															10.37:g.46918625C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000605984.1	37	NULL		10	.	.	.	.	.	.	.	.	.	.	C	5.416	0.261899	0.10239	.	.	ENSG00000165874	ENST00000301038;ENST00000539388	.	.	.	2.64	-0.468	0.12146	.	0.121379	0.56097	D	0.000035	T	0.22666	0.0547	.	.	.	0.27225	N	0.95956	B	0.02656	0.0	B	0.04013	0.001	T	0.05007	-1.0912	7	0.33141	T	0.24	-1.5767	3.1321	0.06426	0.0:0.4868:0.2291:0.2841	.	19	F5H2C6	.	S	19	.	ENSP00000301038:P19S	P	+	1	0	FAM35B	46338631	0.997000	0.39634	0.991000	0.47740	0.783000	0.44284	0.410000	0.21098	-0.083000	0.12618	-0.727000	0.03589	CCT	FAM35B	-	-	ENSG00000165874		0.378	RP11-38L15.8-001	KNOWN	basic	lincRNA	FAM35B	HGNC	lincRNA	OTTHUMT00000471245.1	18	0.00	0	C			46918625	46918625	+1	no_errors	ENST00000475914	ensembl	human	known	69_37n	rna	9	47.62	10	SNP	0.992	T
FAM45A	404636	genome.wustl.edu	37	10	120867647	120867647	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:120867647G>A	ENST00000361432.2	+	2	249	c.223G>A	c.(223-225)Gaa>Aaa	p.E75K	FAM45A_ENST00000544016.1_5'UTR|FAM45A_ENST00000535029.1_Missense_Mutation_p.E75K	NM_207009.2	NP_996892.1	Q8TCE6	FA45A_HUMAN	family with sequence similarity 45, member A	75										breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	14		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0293)		CACAACAATTGAAGTTCCAGA	0.413																																						dbGAP											0													141.0	137.0	138.0					10																	120867647		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF168713	CCDS7609.1	10q25	2008-09-04			ENSG00000119979	ENSG00000119979			31793	protein-coding gene	gene with protein product							Standard	NM_207009		Approved			Q8TCE6	OTTHUMG00000019143	ENST00000361432.2:c.223G>A	10.37:g.120867647G>A	ENSP00000354688:p.Glu75Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AMV6|B4DDC3|D3DRC8|Q9NXW4	Missense_Mutation	SNP	pfam_Secretory_pathway_prot_Avl9	p.E75K	ENST00000361432.2	37	c.223	CCDS7609.1	10	.	.	.	.	.	.	.	.	.	.	G	20.3	3.975029	0.74360	.	.	ENSG00000119979	ENST00000535029;ENST00000546291;ENST00000361432	.	.	.	6.01	5.05	0.67936	.	0.048707	0.85682	D	0.000000	T	0.51550	0.1681	L	0.53249	1.67	0.80722	D	1	P;P	0.36222	0.525;0.544	B;B	0.30401	0.115;0.058	T	0.57289	-0.7837	9	0.56958	D	0.05	.	15.1845	0.72989	0.0:0.14:0.86:0.0	.	67;75	Q8TCE6-2;Q8TCE6	.;FA45A_HUMAN	K	75	.	ENSP00000354688:E75K	E	+	1	0	FAM45A	120857637	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.170000	0.77587	2.869000	0.98440	0.558000	0.71614	GAA	FAM45A	-	NULL	ENSG00000119979		0.413	FAM45A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM45A	HGNC	protein_coding	OTTHUMT00000050623.1	92	0.00	0	G	NM_207009		120867647	120867647	+1	no_errors	ENST00000361432	ensembl	human	known	69_37n	missense	37	24.49	12	SNP	0.998	A
FAM47C	442444	genome.wustl.edu	37	X	37028867	37028867	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:37028867G>C	ENST00000358047.3	+	1	2436	c.2384G>C	c.(2383-2385)cGa>cCa	p.R795P		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	795										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AAGACTCGTCGAGTGTCCAGT	0.617																																						dbGAP											0													40.0	41.0	41.0					X																	37028867		2201	4300	6501	-	-	-	SO:0001583	missense	0			AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.2384G>C	X.37:g.37028867G>C	ENSP00000367913:p.Arg795Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZU46	Missense_Mutation	SNP	NULL	p.R795P	ENST00000358047.3	37	c.2384	CCDS35227.1	X	.	.	.	.	.	.	.	.	.	.	G	6.836	0.523482	0.13066	.	.	ENSG00000198173	ENST00000358047	T	0.15952	2.38	0.217	-0.433	0.12287	.	.	.	.	.	T	0.16128	0.0388	M	0.71581	2.175	0.09310	N	1	B	0.31174	0.311	B	0.29942	0.109	T	0.28776	-1.0033	9	0.23302	T	0.38	.	5.5578	0.17125	0.0:0.3444:0.6556:0.0	.	795	Q5HY64	FA47C_HUMAN	P	795	ENSP00000367913:R795P	ENSP00000367913:R795P	R	+	2	0	FAM47C	36938788	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	0.262000	0.18460	-0.925000	0.03775	-0.932000	0.02703	CGA	FAM47C	-	NULL	ENSG00000198173		0.617	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47C	HGNC	protein_coding	OTTHUMT00000060508.1	55	0.00	0	G	NM_001013736		37028867	37028867	+1	no_errors	ENST00000358047	ensembl	human	known	69_37n	missense	48	27.27	18	SNP	0.003	C
SUPT20H	55578	genome.wustl.edu	37	13	37583935	37583935	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr13:37583935G>A	ENST00000350612.6	-	26	2434	c.2214C>T	c.(2212-2214)ttC>ttT	p.F738F	SUPT20H_ENST00000356185.3_Missense_Mutation_p.L705F|SUPT20H_ENST00000360252.4_Missense_Mutation_p.L705F|SUPT20H_ENST00000464744.1_Missense_Mutation_p.L705F|SUPT20H_ENST00000475892.1_Missense_Mutation_p.L783F	NM_001014286.2	NP_001014308.2	Q8NEM7	SP20H_HUMAN	suppressor of Ty 20 homolog (S. cerevisiae)	738	Gln-rich.				autophagy (GO:0006914)|chromatin organization (GO:0006325)|gastrulation (GO:0007369)	SAGA complex (GO:0000124)|SAGA-type complex (GO:0070461)	transcription cofactor activity (GO:0003712)										GATGCTGCAAGAATCGCAACT	0.453																																						dbGAP											0													105.0	96.0	99.0					13																	37583935		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF093250	CCDS9362.1, CCDS31959.1, CCDS61311.1	13q13	2012-11-29	2012-11-29	2012-11-29	ENSG00000102710	ENSG00000102710			20596	protein-coding gene	gene with protein product	"""p38 interacting protein"", ""transcription factor (p38 interacting protein)"""	613417	"""chromosome 13 open reading frame 19"", ""family with sequence similarity 48, member A"""	C13orf19, FAM48A		12070015 , 16685401	Standard	NM_001278480		Approved	SPT20, bA421P11.4, P38IP	uc001uwg.3	Q8NEM7	OTTHUMG00000016747	ENST00000350612.6:c.2214C>T	13.37:g.37583935G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	E7ER46|Q71RF3|Q9Y6A6	Missense_Mutation	SNP	pfam_Spt20	p.L705F	ENST00000350612.6	37	c.2113	CCDS31959.1	13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.99|14.99	2.701197|2.701197	0.48307|0.48307	.|.	.|.	ENSG00000102710|ENSG00000102710	ENST00000360252;ENST00000475892;ENST00000356185;ENST00000536874;ENST00000464744|ENST00000469488	T;T;T;T|.	0.55052|.	0.54;0.54;0.54;0.54|.	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	.|.	.|.	.|.	.|.	T|T	0.74574|0.74574	0.3734|0.3734	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.998;0.998;0.999|.	D;D;D|.	0.83275|.	0.991;0.991;0.996|.	T|T	0.72286|0.72286	-0.4338|-0.4338	7|4	.|.	.|.	.|.	-16.4778|-16.4778	18.157|18.157	0.89694|0.89694	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	783;705;705|.	E7ER46;A8K8L1;Q8NEM7-2|.	.;.;.|.	F|F	705;783;705;704;705|281	ENSP00000353388:L705F;ENSP00000417510:L783F;ENSP00000348512:L705F;ENSP00000419754:L705F|.	.|.	L|S	-|-	1|2	0|0	FAM48A|FAM48A	36481935|36481935	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.067000|9.067000	0.93955|0.93955	2.733000|2.733000	0.93635|0.93635	0.467000|0.467000	0.42956|0.42956	CTT|TCT	FAM48A	-	NULL	ENSG00000102710		0.453	SUPT20H-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM48A	HGNC	protein_coding	OTTHUMT00000354766.1	128	0.00	0	G	NM_017569		37583935	37583935	-1	no_errors	ENST00000356185	ensembl	human	known	69_37n	missense	113	27.56	43	SNP	1.000	A
FAM49A	81553	genome.wustl.edu	37	2	16742328	16742328	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:16742328G>A	ENST00000381323.3	-	9	860	c.640C>T	c.(640-642)Ctg>Ttg	p.L214L	FAM49A_ENST00000406434.1_Silent_p.L214L|FAM49A_ENST00000355549.2_Silent_p.L214L	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	214						intracellular (GO:0005622)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			TCTATTGGCAGAGTTTTGTTC	0.418																																						dbGAP											0													231.0	215.0	221.0					2																	16742328		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK001942	CCDS1688.1	2p24.3	2008-02-05			ENSG00000197872	ENSG00000197872			25373	protein-coding gene	gene with protein product							Standard	NM_030797		Approved	DKFZP566A1524, FLJ11080	uc002rck.2	Q9H0Q0	OTTHUMG00000090615	ENST00000381323.3:c.640C>T	2.37:g.16742328G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KNZ1|Q53QW2	Silent	SNP	pfam_DUF1394	p.L214	ENST00000381323.3	37	c.640	CCDS1688.1	2																																																																																			FAM49A	-	pfam_DUF1394	ENSG00000197872		0.418	FAM49A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM49A	HGNC	protein_coding	OTTHUMT00000207203.2	247	0.00	0	G	NM_030797		16742328	16742328	-1	no_errors	ENST00000355549	ensembl	human	known	69_37n	silent	180	26.53	65	SNP	0.947	A
FAM57A	79850	genome.wustl.edu	37	17	644582	644582	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:644582C>G	ENST00000308278.8	+	5	782	c.546C>G	c.(544-546)atC>atG	p.I182M	FAM57A_ENST00000572018.1_3'UTR|FAM57A_ENST00000301324.8_Missense_Mutation_p.I150M	NM_024792.1	NP_079068.1	Q8TBR7	FA57A_HUMAN	family with sequence similarity 57, member A	182	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|urinary_tract(2)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0217)		TGAATGGAATCCTCACGCTGG	0.542																																						dbGAP											0													152.0	132.0	139.0					17																	644582		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK025935	CCDS10996.1	17p13.3	2014-08-14				ENSG00000167695			29646	protein-coding gene	gene with protein product		611627				12270127	Standard	NM_024792		Approved	FLJ22282, CT120	uc002frp.3	Q8TBR7		ENST00000308278.8:c.546C>G	17.37:g.644582C>G	ENSP00000312017:p.Ile182Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7Q0|Q7Z464|Q96D97|Q9H6H3	Missense_Mutation	SNP	pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom	p.I182M	ENST00000308278.8	37	c.546	CCDS10996.1	17	.	.	.	.	.	.	.	.	.	.	C	13.72	2.320686	0.41096	.	.	ENSG00000167695	ENST00000308278;ENST00000301324;ENST00000451373	D;D	0.85861	-2.04;-2.04	6.17	4.21	0.49690	TRAM/LAG1/CLN8 homology domain (3);	0.558305	0.21587	N	0.072158	D	0.86464	0.5939	M	0.74258	2.255	0.35238	D	0.777537	P;P	0.42203	0.773;0.627	B;P	0.45998	0.366;0.5	D	0.87494	0.2429	10	0.30854	T	0.27	-14.4381	12.4631	0.55743	0.0:0.868:0.0:0.132	.	150;182	Q8TBR7-1;Q8TBR7	.;FA57A_HUMAN	M	182;150;255	ENSP00000312017:I182M;ENSP00000301324:I150M	ENSP00000301324:I150M	I	+	3	3	FAM57A	591332	0.071000	0.21146	1.000000	0.80357	0.553000	0.35397	0.157000	0.16402	0.950000	0.37743	0.655000	0.94253	ATC	FAM57A	-	pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom	ENSG00000167695		0.542	FAM57A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM57A	HGNC	protein_coding	OTTHUMT00000437155.2	103	0.00	0	C	NM_024792		644582	644582	+1	no_errors	ENST00000308278	ensembl	human	known	69_37n	missense	101	21.71	28	SNP	0.980	G
FAM63A	55793	genome.wustl.edu	37	1	150972941	150972941	+	Missense_Mutation	SNP	C	C	T	rs79757708		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:150972941C>T	ENST00000361936.5	-	6	1681	c.727G>A	c.(727-729)Gat>Aat	p.D243N	FAM63A_ENST00000361738.6_Missense_Mutation_p.D291N|FAM63A_ENST00000470877.1_Intron|FAM63A_ENST00000493834.2_Missense_Mutation_p.D148N|FAM63A_ENST00000312210.5_Missense_Mutation_p.D101N	NM_018379.4	NP_060849	Q8N5J2	FA63A_HUMAN	family with sequence similarity 63, member A	243						extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			ACCTGTGGATCAACAAGCCAG	0.522																																						dbGAP											0													73.0	70.0	71.0					1																	150972941		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC032321	CCDS976.1, CCDS30854.1, CCDS53361.1, CCDS55635.1	1q21.2	2008-02-05			ENSG00000143409	ENSG00000143409			25648	protein-coding gene	gene with protein product						10718198	Standard	NM_001040217		Approved	FLJ11280	uc010pcn.2	Q8N5J2	OTTHUMG00000035061	ENST00000361936.5:c.727G>A	1.37:g.150972941C>T	ENSP00000354814:p.Asp243Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWP4|B3KWV8|B4DXF2|B4E1S4|D3DV09|J3KP53|Q5SZF0|Q9NUL9|Q9P2F7	Missense_Mutation	SNP	pfam_DUF544	p.D291N	ENST00000361936.5	37	c.871	CCDS976.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.199220	0.94997	.	.	ENSG00000143409	ENST00000312210;ENST00000361936;ENST00000361738;ENST00000493834	T;T;T;T	0.54071	0.64;0.62;0.59;0.67	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.70587	0.3241	M	0.86420	2.815	0.80722	D	1	D;D	0.89917	0.963;1.0	P;D	0.85130	0.8;0.997	T	0.73936	-0.3825	10	0.48119	T	0.1	-16.5949	15.3579	0.74443	0.0:1.0:0.0:0.0	.	291;243	Q8N5J2-3;Q8N5J2	.;FA63A_HUMAN	N	101;243;291;148	ENSP00000310923:D101N;ENSP00000354814:D243N;ENSP00000354669:D291N;ENSP00000437174:D148N	ENSP00000310923:D101N	D	-	1	0	FAM63A	149239565	1.000000	0.71417	0.956000	0.39512	0.920000	0.55202	7.561000	0.82288	2.474000	0.83562	0.563000	0.77884	GAT	FAM63A	-	pfam_DUF544	ENSG00000143409		0.522	FAM63A-005	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM63A	HGNC	protein_coding	OTTHUMT00000411753.1	39	0.00	0	C	NM_018379		150972941	150972941	-1	no_errors	ENST00000361738	ensembl	human	known	69_37n	missense	42	34.38	22	SNP	1.000	T
BRINP3	339479	genome.wustl.edu	37	1	190423875	190423875	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:190423875G>A	ENST00000367462.3	-	2	377	c.146C>T	c.(145-147)tCt>tTt	p.S49F	BRINP3_ENST00000534846.1_Silent_p.L11L	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	49					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											TCCCTTATCAGAGAGGAGCCA	0.498																																						dbGAP											0													79.0	78.0	78.0					1																	190423875		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.146C>T	1.37:g.190423875G>A	ENSP00000356432:p.Ser49Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	pfam_MACPF,smart_MACPF	p.S49F	ENST00000367462.3	37	c.146	CCDS1373.1	1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.988036	0.74589	.	.	ENSG00000162670	ENST00000367462;ENST00000445957	T;T	0.55760	2.2;0.5	5.42	4.5	0.54988	.	0.063733	0.64402	D	0.000004	T	0.66723	0.2818	L	0.55481	1.735	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.69624	-0.5095	10	0.87932	D	0	.	13.2729	0.60172	0.0:0.0:0.8402:0.1598	.	49	Q76B58	FAM5C_HUMAN	F	49	ENSP00000356432:S49F;ENSP00000393441:S49F	ENSP00000356432:S49F	S	-	2	0	FAM5C	188690498	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.589000	0.82641	1.254000	0.44035	0.655000	0.94253	TCT	FAM5C	-	NULL	ENSG00000162670		0.498	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM5C	HGNC	protein_coding	OTTHUMT00000086278.1	115	0.00	0	G	NM_199051		190423875	190423875	-1	no_errors	ENST00000367462	ensembl	human	known	69_37n	missense	109	24.83	36	SNP	1.000	A
FAM65A	79567	genome.wustl.edu	37	16	67575861	67575861	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:67575861C>T	ENST00000379312.3	+	13	1305	c.1184C>T	c.(1183-1185)tCa>tTa	p.S395L	CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000540839.3_Missense_Mutation_p.S411L|FAM65A_ENST00000428437.2_Missense_Mutation_p.S405L|FAM65A_ENST00000422602.2_Missense_Mutation_p.S411L|CTD-2012K14.4_ENST00000564717.1_RNA|CTD-2012K14.2_ENST00000567122.1_RNA|FAM65A_ENST00000042381.4_Missense_Mutation_p.S391L	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	395						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CCACAGCTCTCAGGCACTGCC	0.622																																						dbGAP											0													41.0	46.0	44.0					16																	67575861		2198	4300	6498	-	-	-	SO:0001583	missense	0			AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.1184C>T	16.37:g.67575861C>T	ENSP00000368614:p.Ser395Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Missense_Mutation	SNP	superfamily_ARM-type_fold,superfamily_HR1_rho-bd	p.S411L	ENST00000379312.3	37	c.1232	CCDS54028.1	16	.	.	.	.	.	.	.	.	.	.	C	26.5	4.745179	0.89663	.	.	ENSG00000039523	ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839	T;T;T	0.19250	2.18;2.18;2.16	5.12	5.12	0.69794	.	0.203146	0.44097	D	0.000495	T	0.32971	0.0847	L	0.27053	0.805	0.54753	D	0.999989	D;D;D;D	0.76494	0.997;0.997;0.991;0.999	P;P;P;D	0.63488	0.831;0.831;0.831;0.915	T	0.04693	-1.0933	10	0.41790	T	0.15	-9.0305	18.6124	0.91290	0.0:1.0:0.0:0.0	.	405;411;395;411	B4DIM2;E9PBS3;Q6ZS17;B4DEQ9	.;.;FA65A_HUMAN;.	L	395;391;411;405	ENSP00000368614:S395L;ENSP00000042381:S391L;ENSP00000400099:S411L	ENSP00000042381:S391L	S	+	2	0	FAM65A	66133362	1.000000	0.71417	0.998000	0.56505	0.947000	0.59692	5.609000	0.67661	2.408000	0.81797	0.543000	0.68304	TCA	FAM65A	-	NULL	ENSG00000039523		0.622	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM65A	HGNC	protein_coding	OTTHUMT00000268866.3	21	0.00	0	C	NM_024519		67575861	67575861	+1	no_errors	ENST00000422602	ensembl	human	known	69_37n	missense	19	20.83	5	SNP	0.998	T
SPATA31D1	389763	genome.wustl.edu	37	9	84606897	84606897	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:84606897C>T	ENST00000344803.2	+	4	1559	c.1512C>T	c.(1510-1512)ttC>ttT	p.F504F		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	504					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TCCAGCTCTTCTGGGGTCTCC	0.458																																						dbGAP											0													67.0	63.0	64.0					9																	84606897		1952	4170	6122	-	-	-	SO:0001819	synonymous_variant	0				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.1512C>T	9.37:g.84606897C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.F504	ENST00000344803.2	37	c.1512	CCDS47986.1	9																																																																																			FAM75D1	-	NULL	ENSG00000214929		0.458	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM75D1	HGNC	protein_coding	OTTHUMT00000402325.1	163	0.00	0	C	NM_001001670		84606897	84606897	+1	no_errors	ENST00000344803	ensembl	human	known	69_37n	silent	154	21.43	42	SNP	0.988	T
SPATA31B1P	404770	genome.wustl.edu	37	9	84676960	84676960	+	IGR	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:84676960C>T								SPATA31D1 (66789 upstream) : RP11-15B24.5 (210710 downstream)																							CACACTGCCCCCTGCTGGGTA	0.627																																						dbGAP											0													24.0	27.0	26.0					9																	84676960		1099	2166	3265	-	-	-	SO:0001628	intergenic_variant	0																															9.37:g.84676960C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.R14		37	c.42		9																																																																																			FAM75B	-	NULL	ENSG00000204561	0	0.627					FAM75B	HGNC			32	0.00	0	C			84676960	84676960	-1	no_errors	ENST00000376458	ensembl	human	known	69_37n	silent	25	28.57	10	SNP	0.014	T
SPATA31E1	286234	genome.wustl.edu	37	9	90501339	90501339	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:90501339G>T	ENST00000325643.5	+	4	2003	c.1937G>T	c.(1936-1938)aGa>aTa	p.R646I		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	646					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CCTCCCAGCAGATTGCAGGCA	0.637																																						dbGAP											0													34.0	41.0	38.0					9																	90501339		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.1937G>T	9.37:g.90501339G>T	ENSP00000322640:p.Arg646Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	NULL	p.R646I	ENST00000325643.5	37	c.1937	CCDS6676.1	9	.	.	.	.	.	.	.	.	.	.	g	12.43	1.935742	0.34189	.	.	ENSG00000177992	ENST00000325643;ENST00000539327	T	0.12569	2.67	2.43	-0.568	0.11760	.	2.108450	0.02022	N	0.047821	T	0.21881	0.0527	L	0.39898	1.24	0.09310	N	1	D;P	0.60575	0.988;0.891	P;B	0.56700	0.804;0.371	T	0.13602	-1.0503	10	0.66056	D	0.02	.	4.9923	0.14220	0.4916:0.0:0.5084:0.0	.	646;298	Q6ZUB1;Q8NA33	CI079_HUMAN;.	I	646;298	ENSP00000322640:R646I	ENSP00000322640:R646I	R	+	2	0	C9orf79	89691159	0.001000	0.12720	0.000000	0.03702	0.006000	0.05464	0.059000	0.14322	-0.143000	0.11334	0.557000	0.71058	AGA	FAM75E1	-	NULL	ENSG00000177992		0.637	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM75E1	HGNC	protein_coding	OTTHUMT00000052954.2	32	0.00	0	G	NM_178828		90501339	90501339	+1	no_errors	ENST00000325643	ensembl	human	known	69_37n	missense	30	23.08	9	SNP	0.000	T
FAM76A	199870	genome.wustl.edu	37	1	28060639	28060639	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:28060639C>G	ENST00000373954.6	+	4	401	c.299C>G	c.(298-300)tCt>tGt	p.S100C	FAM76A_ENST00000419687.2_Intron|FAM76A_ENST00000234549.7_Missense_Mutation_p.S134C|FAM76A_ENST00000010299.6_Missense_Mutation_p.S134C|FAM76A_ENST00000530324.1_Missense_Mutation_p.S100C|FAM76A_ENST00000373949.1_Missense_Mutation_p.S100C	NM_001143912.1|NM_152660.2	NP_001137384.1|NP_689873.1	Q8TAV0	FA76A_HUMAN	family with sequence similarity 76, member A	100										endometrium(4)|kidney(2)|large_intestine(1)|lung(2)	9		Colorectal(325;0.000147)|all_lung(284;0.00181)|Lung NSC(340;0.00278)|Renal(390;0.00357)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00253)|KIRC - Kidney renal clear cell carcinoma(1967;0.00292)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)		CCACCCTATTCTTGTGAACAG	0.378																																						dbGAP											0													105.0	102.0	103.0					1																	28060639		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK098318	CCDS309.1, CCDS44092.1, CCDS44093.1, CCDS44094.1, CCDS44095.1	1p35.3	2008-02-05			ENSG00000009780	ENSG00000009780			28530	protein-coding gene	gene with protein product							Standard	NM_001143912		Approved	MGC34648	uc001bor.3	Q8TAV0	OTTHUMG00000003729	ENST00000373954.6:c.299C>G	1.37:g.28060639C>G	ENSP00000363065:p.Ser100Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DWT3|O95565|O95566|Q8N7J5	Missense_Mutation	SNP	NULL	p.S134C	ENST00000373954.6	37	c.401	CCDS309.1	1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.365523	0.82463	.	.	ENSG00000009780	ENST00000373954;ENST00000530324;ENST00000234549;ENST00000373949;ENST00000010299	T;T	0.32272	1.46;1.47	5.76	4.8	0.61643	.	0.196475	0.36482	N	0.002565	T	0.42539	0.1207	L	0.40543	1.245	0.42316	D	0.992238	P;B;D;P;P	0.65815	0.759;0.377;0.995;0.937;0.759	P;B;P;P;P	0.58970	0.749;0.296;0.849;0.831;0.641	T	0.21724	-1.0237	10	0.59425	D	0.04	-11.7569	15.7384	0.77866	0.0:0.8636:0.1364:0.0	.	100;100;134;134;100	E9PQL1;Q8TAV0-2;Q8TAV0-4;Q8TAV0-3;Q8TAV0	.;.;.;.;FA76A_HUMAN	C	100;100;134;100;134	ENSP00000234549:S134C;ENSP00000010299:S134C	ENSP00000010299:S134C	S	+	2	0	FAM76A	27933226	1.000000	0.71417	0.380000	0.26093	0.995000	0.86356	5.998000	0.70653	2.880000	0.98712	0.650000	0.86243	TCT	FAM76A	-	NULL	ENSG00000009780		0.378	FAM76A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM76A	HGNC	protein_coding	OTTHUMT00000010514.3	92	0.00	0	C	NM_152660		28060639	28060639	+1	no_errors	ENST00000010299	ensembl	human	known	69_37n	missense	71	23.66	22	SNP	0.957	G
FAM81B	153643	genome.wustl.edu	37	5	94727171	94727171	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:94727171C>G	ENST00000283357.5	+	1	124	c.78C>G	c.(76-78)atC>atG	p.I26M		NM_152548.2	NP_689761	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	26						nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		TCAAAAATATCAAATCTACAA	0.333																																						dbGAP											0													62.0	63.0	62.0					5																	94727171		1810	4069	5879	-	-	-	SO:0001583	missense	0				CCDS43341.1	5q15	2008-02-05			ENSG00000153347	ENSG00000153347			26335	protein-coding gene	gene with protein product							Standard	NM_152548		Approved	FLJ25333	uc003kla.1	Q96LP2	OTTHUMG00000162837	ENST00000283357.5:c.78C>G	5.37:g.94727171C>G	ENSP00000283357:p.Ile26Met	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.I26M	ENST00000283357.5	37	c.78	CCDS43341.1	5	.	.	.	.	.	.	.	.	.	.	C	9.678	1.148483	0.21288	.	.	ENSG00000153347	ENST00000283357	T	0.24151	1.87	4.68	0.0369	0.14194	.	.	.	.	.	T	0.11580	0.0282	N	0.08118	0	0.09310	N	1	P	0.43701	0.815	B	0.40444	0.329	T	0.14337	-1.0476	9	0.72032	D	0.01	.	3.6366	0.08151	0.4602:0.3391:0.0:0.2007	.	26	Q96LP2	FA81B_HUMAN	M	26	ENSP00000283357:I26M	ENSP00000283357:I26M	I	+	3	3	FAM81B	94752927	0.282000	0.24268	0.024000	0.17045	0.120000	0.20174	0.844000	0.27654	0.098000	0.17522	0.563000	0.77884	ATC	FAM81B	-	NULL	ENSG00000153347		0.333	FAM81B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM81B	HGNC	protein_coding	OTTHUMT00000370690.1	35	0.00	0	C	NM_152548		94727171	94727171	+1	no_errors	ENST00000283357	ensembl	human	known	69_37n	missense	30	21.05	8	SNP	0.001	G
FAM81B	153643	genome.wustl.edu	37	5	94727210	94727210	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:94727210G>A	ENST00000283357.5	+	1	163	c.117G>A	c.(115-117)atG>atA	p.M39I		NM_152548.2	NP_689761	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	39						nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		CAAGCATCATGAGTTCAGGTA	0.303																																						dbGAP											0													65.0	65.0	65.0					5																	94727210		1814	4077	5891	-	-	-	SO:0001583	missense	0				CCDS43341.1	5q15	2008-02-05			ENSG00000153347	ENSG00000153347			26335	protein-coding gene	gene with protein product							Standard	NM_152548		Approved	FLJ25333	uc003kla.1	Q96LP2	OTTHUMG00000162837	ENST00000283357.5:c.117G>A	5.37:g.94727210G>A	ENSP00000283357:p.Met39Ile	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.M39I	ENST00000283357.5	37	c.117	CCDS43341.1	5	.	.	.	.	.	.	.	.	.	.	G	15.48	2.846143	0.51164	.	.	ENSG00000153347	ENST00000283357	T	0.19532	2.14	4.83	4.83	0.62350	.	.	.	.	.	T	0.32526	0.0832	N	0.22421	0.69	0.26207	N	0.979359	D	0.61080	0.989	D	0.72982	0.979	T	0.11542	-1.0583	9	0.87932	D	0	.	13.6124	0.62088	0.0:0.0:1.0:0.0	.	39	Q96LP2	FA81B_HUMAN	I	39	ENSP00000283357:M39I	ENSP00000283357:M39I	M	+	3	0	FAM81B	94752966	1.000000	0.71417	0.991000	0.47740	0.307000	0.27823	4.025000	0.57225	2.658000	0.90341	0.563000	0.77884	ATG	FAM81B	-	NULL	ENSG00000153347		0.303	FAM81B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM81B	HGNC	protein_coding	OTTHUMT00000370690.1	31	0.00	0	G	NM_152548		94727210	94727210	+1	no_errors	ENST00000283357	ensembl	human	known	69_37n	missense	27	22.86	8	SNP	0.998	A
FAM83B	222584	genome.wustl.edu	37	6	54804515	54804515	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:54804515C>T	ENST00000306858.7	+	5	862	c.746C>T	c.(745-747)tCa>tTa	p.S249L		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	249								p.S249L(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TATATGTGGTCATTTGAGAAA	0.318																																						dbGAP											1	Substitution - Missense(1)	lung(1)											67.0	66.0	66.0					6																	54804515		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.746C>T	6.37:g.54804515C>T	ENSP00000304078:p.Ser249Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M1P3|Q96DQ2	Missense_Mutation	SNP	pfam_DUF1669	p.S249L	ENST00000306858.7	37	c.746	CCDS34479.1	6	.	.	.	.	.	.	.	.	.	.	C	16.00	2.997079	0.54147	.	.	ENSG00000168143	ENST00000306858	T	0.14022	2.54	5.42	4.56	0.56223	.	0.140057	0.49916	D	0.000124	T	0.15998	0.0385	L	0.42529	1.33	0.52099	D	0.999946	D	0.60160	0.987	P	0.60789	0.879	T	0.01242	-1.1408	10	0.44086	T	0.13	-17.1793	14.6993	0.69145	0.0:0.9298:0.0:0.0702	.	249	Q5T0W9	FA83B_HUMAN	L	249	ENSP00000304078:S249L	ENSP00000304078:S249L	S	+	2	0	FAM83B	54912474	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	5.735000	0.68587	1.430000	0.47334	-0.216000	0.12614	TCA	FAM83B	-	pfam_DUF1669	ENSG00000168143		0.318	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83B	HGNC	protein_coding	OTTHUMT00000040994.1	70	0.00	0	C	XM_294139		54804515	54804515	+1	no_errors	ENST00000306858	ensembl	human	known	69_37n	missense	61	21.79	17	SNP	1.000	T
FAM83B	222584	genome.wustl.edu	37	6	54804577	54804577	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:54804577G>C	ENST00000306858.7	+	5	924	c.808G>C	c.(808-810)Gat>Cat	p.D270H		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	270										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TGAGTCCTTTGATGAAGAATT	0.398																																						dbGAP											0													98.0	98.0	98.0					6																	54804577		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.808G>C	6.37:g.54804577G>C	ENSP00000304078:p.Asp270His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M1P3|Q96DQ2	Missense_Mutation	SNP	pfam_DUF1669	p.D270H	ENST00000306858.7	37	c.808	CCDS34479.1	6	.	.	.	.	.	.	.	.	.	.	G	19.73	3.881267	0.72294	.	.	ENSG00000168143	ENST00000306858	T	0.18174	2.23	5.42	5.42	0.78866	.	0.049031	0.85682	D	0.000000	T	0.45316	0.1336	M	0.88377	2.95	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.53947	-0.8366	10	0.87932	D	0	-39.9068	19.5951	0.95533	0.0:0.0:1.0:0.0	.	270	Q5T0W9	FA83B_HUMAN	H	270	ENSP00000304078:D270H	ENSP00000304078:D270H	D	+	1	0	FAM83B	54912536	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.420000	0.97426	2.705000	0.92388	0.591000	0.81541	GAT	FAM83B	-	pfam_DUF1669	ENSG00000168143		0.398	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83B	HGNC	protein_coding	OTTHUMT00000040994.1	101	0.00	0	G	XM_294139		54804577	54804577	+1	no_errors	ENST00000306858	ensembl	human	known	69_37n	missense	80	20.79	21	SNP	1.000	C
FAM91A1	157769	genome.wustl.edu	37	8	124799973	124799973	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:124799973C>G	ENST00000334705.7	+	14	1507	c.1261C>G	c.(1261-1263)Ctt>Gtt	p.L421V	FAM91A1_ENST00000521166.1_Missense_Mutation_p.L421V	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	421								p.L421V(1)		breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			GGACAGCTTTCTTATAGAACT	0.358																																						dbGAP											1	Substitution - Missense(1)	breast(1)											92.0	88.0	89.0					8																	124799973		1846	4099	5945	-	-	-	SO:0001583	missense	0			AK074370	CCDS6346.2	8q24.13	2005-10-04			ENSG00000176853	ENSG00000176853			26306	protein-coding gene	gene with protein product						12477932	Standard	XM_005250806		Approved	FLJ23790	uc003yqv.3	Q658Y4	OTTHUMG00000133021	ENST00000334705.7:c.1261C>G	8.37:g.124799973C>G	ENSP00000335082:p.Leu421Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B6YY23|Q658T5|Q8TE89	Missense_Mutation	SNP	NULL	p.L421V	ENST00000334705.7	37	c.1261	CCDS6346.2	8	.	.	.	.	.	.	.	.	.	.	C	13.35	2.209762	0.39003	.	.	ENSG00000176853	ENST00000521166;ENST00000334705	T;T	0.36157	1.27;1.27	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.53254	0.1785	L	0.54863	1.705	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.75484	0.986;0.986	T	0.42120	-0.9470	10	0.35671	T	0.21	.	13.621	0.62136	0.0:0.9196:0.0:0.0804	.	421;421	E7ER68;Q658Y4	.;F91A1_HUMAN	V	421	ENSP00000429491:L421V;ENSP00000335082:L421V	ENSP00000335082:L421V	L	+	1	0	FAM91A1	124869154	1.000000	0.71417	0.997000	0.53966	0.660000	0.38997	2.064000	0.41432	2.785000	0.95823	0.655000	0.94253	CTT	FAM91A1	-	NULL	ENSG00000176853		0.358	FAM91A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM91A1	HGNC	protein_coding	OTTHUMT00000256607.1	95	0.00	0	C	NM_144963		124799973	124799973	+1	no_errors	ENST00000334705	ensembl	human	known	69_37n	missense	98	13.27	15	SNP	1.000	G
FAM98C	147965	genome.wustl.edu	37	19	38896172	38896172	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:38896172C>G	ENST00000252530.5	+	6	666	c.647C>G	c.(646-648)tCt>tGt	p.S216C	FAM98C_ENST00000588262.1_Intron|FAM98C_ENST00000343358.7_Missense_Mutation_p.S190C	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	216										endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GCGTTGGAGTCTCTGTCCCAA	0.577																																						dbGAP											0													82.0	87.0	85.0					19																	38896172		2187	4284	6471	-	-	-	SO:0001583	missense	0				CCDS42562.1	19q13.2	2008-02-05				ENSG00000130244			27119	protein-coding gene	gene with protein product						12477932	Standard	NM_174905		Approved	FLJ44669	uc002oin.1	Q17RN3		ENST00000252530.5:c.647C>G	19.37:g.38896172C>G	ENSP00000252530:p.Ser216Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMW3|Q66K45	Missense_Mutation	SNP	pfam_Uncharacterised_FAM98	p.S216C	ENST00000252530.5	37	c.647	CCDS42562.1	19	.	.	.	.	.	.	.	.	.	.	C	12.61	1.990873	0.35131	.	.	ENSG00000130244	ENST00000252530;ENST00000343358	T;T	0.46819	0.86;0.86	5.02	3.92	0.45320	.	0.600165	0.13894	N	0.355361	T	0.59376	0.2189	M	0.62723	1.935	0.09310	N	1	D;B	0.76494	0.999;0.139	P;B	0.60236	0.871;0.054	T	0.48490	-0.9031	10	0.52906	T	0.07	-10.8773	9.9322	0.41530	0.2027:0.7973:0.0:0.0	.	190;216	Q17RN3-2;Q17RN3	.;FA98C_HUMAN	C	216;190	ENSP00000252530:S216C;ENSP00000340348:S190C	ENSP00000252530:S216C	S	+	2	0	FAM98C	43588012	0.000000	0.05858	0.784000	0.31847	0.980000	0.70556	0.363000	0.20301	2.334000	0.79466	0.558000	0.71614	TCT	FAM98C	-	pfam_Uncharacterised_FAM98	ENSG00000130244		0.577	FAM98C-001	KNOWN	basic|CCDS	protein_coding	FAM98C	HGNC	protein_coding	OTTHUMT00000459222.1	75	0.00	0	C	NM_174905		38896172	38896172	+1	no_errors	ENST00000252530	ensembl	human	known	69_37n	missense	59	30.59	26	SNP	0.048	G
FAM9C	171484	genome.wustl.edu	37	X	13061257	13061257	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:13061257C>T	ENST00000333995.3	-	3	302	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K	FAM9C_ENST00000542843.1_Missense_Mutation_p.E58K|FAM9C_ENST00000380625.3_Missense_Mutation_p.E58K			Q8IZT9	FAM9C_HUMAN	family with sequence similarity 9, member C	58						nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						CCCGTGTGTTCATCTGTTTCA	0.413																																						dbGAP											0													226.0	175.0	192.0					X																	13061257		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS35203.1	Xp22.32	2013-03-14			ENSG00000187268	ENSG00000187268			18405	protein-coding gene	gene with protein product	"""testis expressed 39C"""	300479					Standard	NM_174901		Approved	TEX39C	uc004cvh.2	Q8IZT9	OTTHUMG00000021143	ENST00000333995.3:c.172G>A	X.37:g.13061257C>T	ENSP00000334430:p.Glu58Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9G7|Q5HYJ6	Missense_Mutation	SNP	pfam_Cor1/Xlr/Xmr	p.E58K	ENST00000333995.3	37	c.172	CCDS35203.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.212|6.212	0.407186|0.407186	0.11754|0.11754	.|.	.|.	ENSG00000187268|ENSG00000187268	ENST00000542843;ENST00000380625;ENST00000333995|ENST00000438997	T;T;T|.	0.21734|.	1.99;1.99;1.99|.	0.109|0.109	0.109|0.109	0.14578|0.14578	.|.	.|.	.|.	.|.	.|.	T|T	0.29190|0.29190	0.0726|0.0726	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.26430|0.26430	-1.0103|-1.0103	8|4	0.51188|.	T|.	0.08|.	.|.	.|.	.|.	.|.	.|.	58|.	Q8IZT9|.	FAM9C_HUMAN|.	K|I	58|17	ENSP00000439185:E58K;ENSP00000369999:E58K;ENSP00000334430:E58K|.	ENSP00000334430:E58K|.	E|M	-|-	1|3	0|0	FAM9C|FAM9C	12971178|12971178	0.042000|0.042000	0.20092|0.20092	0.036000|0.036000	0.18154|0.18154	0.042000|0.042000	0.13812|0.13812	-0.503000|-0.503000	0.06383|0.06383	0.168000|0.168000	0.19655|0.19655	0.171000|0.171000	0.16805|0.16805	GAA|ATG	FAM9C	-	NULL	ENSG00000187268		0.413	FAM9C-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	FAM9C	HGNC	protein_coding	OTTHUMT00000316476.1	161	0.00	0	C	NM_174901		13061257	13061257	-1	no_errors	ENST00000333995	ensembl	human	known	69_37n	missense	123	15.75	23	SNP	0.037	T
FANCA	2175	genome.wustl.edu	37	16	89828418	89828418	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:89828418C>G	ENST00000389301.3	-	29	2821	c.2791G>C	c.(2791-2793)Gac>Cac	p.D931H	FANCA_ENST00000568369.1_Missense_Mutation_p.D931H	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	931					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		TGTAACCAGTCTTGGTAAGTT	0.433			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													dbGAP	yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"""Fanconi anemia, complementation group A"""		L	0													140.0	129.0	132.0					16																	89828418		2198	4300	6498	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"""Fanconi anemia, complementation groups"""	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.2791G>C	16.37:g.89828418C>G	ENSP00000373952:p.Asp931His	Somatic		WXS	Illumina GAIIx	Phase_IV	A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Missense_Mutation	SNP	pfam_Fanconia,prints_Fanconia	p.D931H	ENST00000389301.3	37	c.2791	CCDS32515.1	16	.	.	.	.	.	.	.	.	.	.	C	14.83	2.652236	0.47362	.	.	ENSG00000187741	ENST00000389301	D	0.86562	-2.14	4.81	4.81	0.61882	.	0.092467	0.46442	D	0.000285	D	0.92312	0.7561	M	0.75447	2.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.69307	0.963;0.963	D	0.93064	0.6477	10	0.87932	D	0	-31.6069	13.7917	0.63146	0.0:1.0:0.0:0.0	.	931;931	B4DRI7;O15360	.;FANCA_HUMAN	H	931	ENSP00000373952:D931H	ENSP00000373952:D931H	D	-	1	0	FANCA	88355919	1.000000	0.71417	1.000000	0.80357	0.298000	0.27526	2.297000	0.43593	2.406000	0.81754	0.555000	0.69702	GAC	FANCA	-	NULL	ENSG00000187741		0.433	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FANCA	HGNC	protein_coding	OTTHUMT00000421927.1	96	0.00	0	C			89828418	89828418	-1	no_errors	ENST00000389301	ensembl	human	known	69_37n	missense	89	18.35	20	SNP	1.000	G
FANCA	2175	genome.wustl.edu	37	16	89882362	89882362	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:89882362C>T	ENST00000389301.3	-	2	142	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K	FANCA_ENST00000563673.1_Missense_Mutation_p.E38K|FANCA_ENST00000568369.1_Missense_Mutation_p.E38K|FANCA_ENST00000389302.3_Missense_Mutation_p.E38K|FANCA_ENST00000534992.1_Missense_Mutation_p.E38K|FANCA_ENST00000543736.1_Missense_Mutation_p.E38K	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	38					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		TGTGCCCTTTCAGGATTATAT	0.542			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													dbGAP	yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"""Fanconi anemia, complementation group A"""		L	0													126.0	113.0	117.0					16																	89882362		2198	4300	6498	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"""Fanconi anemia, complementation groups"""	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.112G>A	16.37:g.89882362C>T	ENSP00000373952:p.Glu38Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Missense_Mutation	SNP	pfam_Fanconia,prints_Fanconia	p.E38K	ENST00000389301.3	37	c.112	CCDS32515.1	16	.	.	.	.	.	.	.	.	.	.	C	15.81	2.942737	0.53079	.	.	ENSG00000187741	ENST00000389301;ENST00000389302;ENST00000534992;ENST00000543736	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.47	4.49	0.54785	.	0.948134	0.08701	N	0.906420	T	0.46795	0.1411	L	0.47716	1.5	0.09310	N	1	P;P;P;P;P;P	0.46064	0.651;0.872;0.872;0.872;0.705;0.651	B;P;P;P;B;B	0.48454	0.272;0.578;0.578;0.578;0.439;0.272	T	0.26780	-1.0093	10	0.30854	T	0.27	-1.5282	12.1004	0.53780	0.0:0.8269:0.1731:0.0	.	38;38;38;38;38;38	B4DRI7;Q0VAP4;A0PJU8;F5H8D5;O15360-2;O15360	.;.;.;.;.;FANCA_HUMAN	K	38	ENSP00000373952:E38K;ENSP00000373953:E38K;ENSP00000443675:E38K;ENSP00000443409:E38K	ENSP00000373952:E38K	E	-	1	0	FANCA	88409863	0.034000	0.19679	0.001000	0.08648	0.039000	0.13416	2.591000	0.46163	1.252000	0.44001	0.645000	0.84053	GAA	FANCA	-	NULL	ENSG00000187741		0.542	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FANCA	HGNC	protein_coding	OTTHUMT00000421927.1	92	0.00	0	C			89882362	89882362	-1	no_errors	ENST00000389301	ensembl	human	known	69_37n	missense	59	36.56	34	SNP	0.004	T
FANCG	2189	genome.wustl.edu	37	9	35074432	35074432	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:35074432C>T	ENST00000378643.3	-	13	2187	c.1696G>A	c.(1696-1698)Gag>Aag	p.E566K	FANCG_ENST00000476212.1_Intron|VCP_ENST00000358901.6_5'Flank	NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	566					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|mitochondrion organization (GO:0007005)|ovarian follicle development (GO:0001541)|response to radiation (GO:0009314)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	damaged DNA binding (GO:0003684)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GCAGTGGCCTCATCCCTCCGA	0.562			"""Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks																														dbGAP	yes	Rec		Fanconi anaemia G	9	9p13	2189	"""Fanconi anemia, complementation group G"""		L	0													142.0	141.0	141.0					9																	35074432		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ007669	CCDS6574.1	9p13	2014-09-17			ENSG00000221829	ENSG00000221829		"""Fanconi anemia, complementation groups"""	3588	protein-coding gene	gene with protein product	"""DNA repair protein XRCC9"", ""X-ray repair, complementing defective, in Chinese hamster, 9"", ""X-ray repair complementing defective repair in Chinese hamster cells 9"""	602956		XRCC9		9256465, 9382107	Standard	NM_004629		Approved	FAG	uc003zwb.1	O15287	OTTHUMG00000019850	ENST00000378643.3:c.1696G>A	9.37:g.35074432C>T	ENSP00000367910:p.Glu566Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	superfamily_Sig_transdc_His_kin_Hpt_dom,smart_TPR_repeat	p.E566K	ENST00000378643.3	37	c.1696	CCDS6574.1	9	.	.	.	.	.	.	.	.	.	.	C	22.5	4.293359	0.80914	.	.	ENSG00000221829	ENST00000378643	T	0.42513	0.97	5.24	5.24	0.73138	Tetratricopeptide-like helical (1);	.	.	.	.	T	0.48537	0.1505	M	0.63843	1.955	0.46654	D	0.999149	P	0.46784	0.884	P	0.46419	0.516	T	0.54063	-0.8349	9	0.87932	D	0	-7.5014	14.3057	0.66384	0.0:1.0:0.0:0.0	.	566	O15287	FANCG_HUMAN	K	566	ENSP00000367910:E566K	ENSP00000367910:E566K	E	-	1	0	FANCG	35064432	1.000000	0.71417	1.000000	0.80357	0.605000	0.37080	3.735000	0.55044	2.433000	0.82419	0.313000	0.20887	GAG	FANCG	-	NULL	ENSG00000221829		0.562	FANCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCG	HGNC	protein_coding	OTTHUMT00000052269.1	48	0.00	0	C	NM_004629		35074432	35074432	-1	no_errors	ENST00000378643	ensembl	human	known	69_37n	missense	39	11.36	5	SNP	1.000	T
FANCI	55215	genome.wustl.edu	37	15	89817505	89817505	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:89817505C>T	ENST00000310775.7	+	12	1168	c.1082C>T	c.(1081-1083)tCa>tTa	p.S361L	FANCI_ENST00000300027.8_Missense_Mutation_p.S361L	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	361					cell cycle (GO:0007049)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					TCTTATGTTTCAACCATGATC	0.338								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													dbGAP											0													59.0	58.0	58.0					15																	89817505		2200	4299	6499	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	BC004277	CCDS10349.2, CCDS45346.1	15q26.1	2014-09-17	2007-05-03	2007-05-03	ENSG00000140525	ENSG00000140525		"""Fanconi anemia, complementation groups"""	25568	protein-coding gene	gene with protein product		611360	"""KIAA1794"""	KIAA1794		14630800, 17460694, 17412408	Standard	NM_001113378		Approved	FLJ10719	uc010bnp.1	Q9NVI1	OTTHUMG00000132993	ENST00000310775.7:c.1082C>T	15.37:g.89817505C>T	ENSP00000310842:p.Ser361Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	Missense_Mutation	SNP	NULL	p.S361L	ENST00000310775.7	37	c.1082	CCDS45346.1	15	.	.	.	.	.	.	.	.	.	.	C	17.22	3.334308	0.60853	.	.	ENSG00000140525	ENST00000300027;ENST00000310775;ENST00000447611	T;T;T	0.68903	-0.36;-0.36;0.37	5.41	5.41	0.78517	.	0.143047	0.49305	D	0.000151	T	0.67011	0.2848	M	0.67953	2.075	0.80722	D	1	B;B;B	0.23990	0.046;0.095;0.095	B;B;B	0.27170	0.027;0.077;0.036	T	0.62383	-0.6866	10	0.27082	T	0.32	-9.5753	17.7335	0.88386	0.0:1.0:0.0:0.0	.	361;361;361	Q9NVI1;Q9NVI1-2;Q9NVI1-1	FANCI_HUMAN;.;.	L	361	ENSP00000300027:S361L;ENSP00000310842:S361L;ENSP00000413249:S361L	ENSP00000300027:S361L	S	+	2	0	FANCI	87618509	1.000000	0.71417	0.985000	0.45067	0.525000	0.34531	6.826000	0.75298	2.697000	0.92050	0.563000	0.77884	TCA	FANCI	-	NULL	ENSG00000140525		0.338	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCI	HGNC	protein_coding	OTTHUMT00000421140.1	80	0.00	0	C	NM_018193		89817505	89817505	+1	no_errors	ENST00000310775	ensembl	human	known	69_37n	missense	58	20.55	15	SNP	0.999	T
FANCL	55120	genome.wustl.edu	37	2	58457010	58457010	+	Splice_Site	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:58457010C>G	ENST00000233741.4	-	3	192		c.e3-1		FANCL_ENST00000540646.1_Splice_Site|FANCL_ENST00000403676.1_Intron|FANCL_ENST00000402135.3_Splice_Site|FANCL_ENST00000481670.1_5'Flank|FANCL_ENST00000403295.3_Splice_Site	NM_018062.3	NP_060532.2	Q9NW38	FANCL_HUMAN	Fanconi anemia, complementation group L						cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|gamete generation (GO:0007276)|protein monoubiquitination (GO:0006513)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	ligase activity (GO:0016874)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)	8						ACATAATAATCTAAAATTTTA	0.289								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													dbGAP											0													61.0	66.0	64.0					2																	58457010		2201	4285	6486	-	-	-	SO:0001630	splice_region_variant	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK001197	CCDS1860.1, CCDS46294.1	2p16.1	2014-09-17	2003-10-14	2003-10-15	ENSG00000115392	ENSG00000115392		"""Zinc fingers, PHD-type"", ""Fanconi anemia, complementation groups"""	20748	protein-coding gene	gene with protein product		608111	"""PHD finger protein 9"""	PHF9			Standard	NM_018062		Approved	FLJ10335, FAAP43, Pog	uc002rzx.4	Q9NW38	OTTHUMG00000129349	ENST00000233741.4:c.156-1G>C	2.37:g.58457010C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6GU60	Splice_Site	SNP	-	e3-1	ENST00000233741.4	37	c.156-1	CCDS1860.1	2	.	.	.	.	.	.	.	.	.	.	C	15.95	2.982953	0.53827	.	.	ENSG00000115392	ENST00000403295;ENST00000233741;ENST00000402135;ENST00000427708;ENST00000540646	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5684	0.68194	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FANCL	58310514	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	4.068000	0.57534	2.489000	0.83994	0.650000	0.86243	.	FANCL	-	-	ENSG00000115392		0.289	FANCL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FANCL	HGNC	protein_coding	OTTHUMT00000251497.1	114	0.00	0	C	NM_018062	Intron	58457010	58457010	-1	no_errors	ENST00000233741	ensembl	human	known	69_37n	splice_site	120	13.04	18	SNP	1.000	G
FANCM	57697	genome.wustl.edu	37	14	45665674	45665674	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:45665674C>T	ENST00000267430.5	+	21	5725	c.5640C>T	c.(5638-5640)ttC>ttT	p.F1880F	FANCM_ENST00000542564.2_Silent_p.F1854F	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1880	Interaction with FAAP24 and EME1.				DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AGAACAAGTTCATTGAGCAGA	0.368								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													dbGAP											0													121.0	114.0	116.0					14																	45665674		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.5640C>T	14.37:g.45665674C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_ERCC4_domain	p.H848Y	ENST00000267430.5	37	c.2542	CCDS32070.1	14	.	.	.	.	.	.	.	.	.	.	C	4.504	0.093405	0.08632	.	.	ENSG00000187790	ENST00000554809	.	.	.	5.27	0.568	0.17333	.	.	.	.	.	T	0.23370	0.0565	.	.	.	0.20975	N	0.999818	.	.	.	.	.	.	T	0.24083	-1.0170	4	.	.	.	.	3.4822	0.07606	0.2401:0.3178:0.3521:0.0899	.	.	.	.	Y	848	.	.	H	+	1	0	FANCM	44735424	0.017000	0.18338	0.729000	0.30791	0.769000	0.43574	-0.008000	0.12788	0.190000	0.20209	-0.309000	0.09137	CAT	FANCM	-	superfamily_Restrct_endonuc-II-like,smart_ERCC4_domain	ENSG00000187790		0.368	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCM	HGNC	protein_coding	OTTHUMT00000410474.1	64	0.00	0	C	XM_048128		45665674	45665674	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000554809	ensembl	human	novel	69_37n	missense	43	18.87	10	SNP	0.007	T
FANK1	92565	genome.wustl.edu	37	10	127697055	127697055	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:127697055C>G	ENST00000368693.1	+	8	889	c.785C>G	c.(784-786)tCt>tGt	p.S262C	FANK1_ENST00000477963.1_3'UTR|FANK1_ENST00000368695.1_Missense_Mutation_p.S256C			Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	262						cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				AGGGTGGCCTCTCTTCTAATT	0.527																																						dbGAP											0													107.0	103.0	104.0					10																	127697055		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC024189	CCDS31309.1	10q26.2	2013-02-11	2005-03-01		ENSG00000203780	ENSG00000203780		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	23527	protein-coding gene	gene with protein product		611640	"""fibronectin type 3 and ankyrin repeat domains 1"""			12477932	Standard	NM_145235		Approved		uc001ljh.4	Q8TC84	OTTHUMG00000019241	ENST00000368693.1:c.785C>G	10.37:g.127697055C>G	ENSP00000357682:p.Ser262Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UXY9|Q6X7T6	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Fibronectin_type3,prints_Ankyrin_rpt	p.S262C	ENST00000368693.1	37	c.785	CCDS31309.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.91|12.91	2.080398|2.080398	0.36662|0.36662	.|.	.|.	ENSG00000203780|ENSG00000203780	ENST00000456942|ENST00000368695;ENST00000368693;ENST00000368691;ENST00000368692	.|T;T;T	.|0.67345	.|-0.17;-0.17;-0.26	5.62|5.62	4.71|4.71	0.59529|0.59529	.|Ankyrin repeat-containing domain (4);	.|0.171402	.|0.39475	.|N	.|0.001341	T|T	0.74023|0.74023	0.3662|0.3662	L|L	0.39245|0.39245	1.2|1.2	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.999;0.999;0.999	.|D;D;D	.|0.68943	.|0.947;0.947;0.961	T|T	0.76647|0.76647	-0.2882|-0.2882	5|10	.|0.72032	.|D	.|0.01	-13.7194|-13.7194	13.9897|13.9897	0.64357|0.64357	0.0:0.7106:0.2894:0.0|0.0:0.7106:0.2894:0.0	.|.	.|288;262;262	.|Q8TC84-3;Q8TC84-2;Q8TC84	.|.;.;FANK1_HUMAN	V|C	157|256;262;240;288	.|ENSP00000357684:S256C;ENSP00000357682:S262C;ENSP00000357680:S240C	.|ENSP00000357680:S240C	L|S	+|+	1|2	0|0	FANK1|FANK1	127687045|127687045	0.993000|0.993000	0.37304|0.37304	0.938000|0.938000	0.37757|0.37757	0.053000|0.053000	0.15095|0.15095	3.531000|3.531000	0.53546|0.53546	1.348000|1.348000	0.45733|0.45733	-0.175000|-0.175000	0.13238|0.13238	CTC|TCT	FANK1	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	ENSG00000203780		0.527	FANK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FANK1	HGNC	protein_coding		82	0.00	0	C	NM_145235		127697055	127697055	+1	no_errors	ENST00000368693	ensembl	human	known	69_37n	missense	37	27.45	14	SNP	0.960	G
FAP	2191	genome.wustl.edu	37	2	163070549	163070549	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:163070549C>T	ENST00000188790.4	-	11	1108	c.901G>A	c.(901-903)Gat>Aat	p.D301N	FAP_ENST00000443424.1_Missense_Mutation_p.D276N	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha											NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						ACTCGTTCATCAGTAACCCAC	0.388																																						dbGAP											0													95.0	92.0	93.0					2																	163070549		2203	4300	6503	-	-	-	SO:0001583	missense	0			U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"""seprase"""	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.901G>A	2.37:g.163070549C>T	ENSP00000188790:p.Asp301Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.D301N	ENST00000188790.4	37	c.901	CCDS33311.1	2	.	.	.	.	.	.	.	.	.	.	C	17.42	3.386067	0.61956	.	.	ENSG00000078098	ENST00000188790;ENST00000443424	D;T	0.97976	-4.64;0.83	5.53	4.64	0.57946	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.152773	0.56097	N	0.000022	D	0.93867	0.8038	L	0.27944	0.81	0.49798	D	0.999821	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.15052	0.012;0.011;0.011	D	0.90547	0.4506	10	0.14656	T	0.56	-19.5339	13.4528	0.61180	0.0:0.9235:0.0:0.0765	.	276;301;301	B4DLR2;B2RD89;Q12884	.;.;SEPR_HUMAN	N	301;276	ENSP00000188790:D301N;ENSP00000411391:D276N	ENSP00000188790:D301N	D	-	1	0	FAP	162778795	1.000000	0.71417	0.987000	0.45799	0.980000	0.70556	5.544000	0.67231	1.313000	0.45069	0.655000	0.94253	GAT	FAP	-	pfam_Peptidase_S9B	ENSG00000078098		0.388	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAP	HGNC	protein_coding	OTTHUMT00000332852.2	55	0.00	0	C			163070549	163070549	-1	no_errors	ENST00000188790	ensembl	human	known	69_37n	missense	58	21.62	16	SNP	0.999	T
FARSA	2193	genome.wustl.edu	37	19	13041506	13041506	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:13041506C>T	ENST00000314606.4	-	2	223	c.205G>A	c.(205-207)Gag>Aag	p.E69K	FARSA_ENST00000423140.2_Missense_Mutation_p.E69K|FARSA_ENST00000588025.1_Missense_Mutation_p.E109K|CTC-425F1.2_ENST00000592636.1_RNA	NM_004461.2	NP_004452.1	Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	69					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	CGGGCAATCTCCTCGCCCTCC	0.627																																						dbGAP											0													51.0	48.0	49.0					19																	13041506		2203	4300	6503	-	-	-	SO:0001583	missense	0			U07424	CCDS12287.1	19p13.2	2014-05-06	2007-02-23	2007-02-23	ENSG00000179115	ENSG00000179115	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	3592	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 1, alpha, cytoplasmic"""	602918	"""phenylalanine-tRNA synthetase-like"", ""phenylalanyl-tRNA synthetase-like, alpha subunit"""	FARSL, FARSLA		9177188	Standard	NM_004461		Approved	CML33	uc002mvs.2	Q9Y285	OTTHUMG00000180569	ENST00000314606.4:c.205G>A	19.37:g.13041506C>T	ENSP00000320309:p.Glu69Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E363|Q9NSD8|Q9Y4W8	Missense_Mutation	SNP	pfam_Phenylalanyl-tRNA_Synthase,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_aa-tRNA-synt_II,pfscan_aa-tRNA-synth_II,tigrfam_Phe-tRNA-synth_IIc_asu	p.E69K	ENST00000314606.4	37	c.205	CCDS12287.1	19	.	.	.	.	.	.	.	.	.	.	C	16.71	3.198879	0.58126	.	.	ENSG00000179115	ENST00000314606;ENST00000423140	T;T	0.63913	-0.07;0.5	5.51	5.51	0.81932	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.047713	0.85682	D	0.000000	T	0.57330	0.2046	L	0.49455	1.56	0.80722	D	1	B;B	0.24533	0.105;0.043	B;B	0.21917	0.037;0.008	T	0.52801	-0.8527	10	0.17369	T	0.5	-11.5632	18.1786	0.89769	0.0:1.0:0.0:0.0	.	69;69	B4E363;Q9Y285	.;SYFA_HUMAN	K	69	ENSP00000320309:E69K;ENSP00000396548:E69K	ENSP00000320309:E69K	E	-	1	0	FARSA	12902506	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	7.346000	0.79347	2.598000	0.87819	0.561000	0.74099	GAG	FARSA	-	NULL	ENSG00000179115		0.627	FARSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FARSA	HGNC	protein_coding	OTTHUMT00000451935.1	26	0.00	0	C	NM_004461		13041506	13041506	-1	no_errors	ENST00000314606	ensembl	human	known	69_37n	missense	22	33.33	11	SNP	1.000	T
FARSB	10056	genome.wustl.edu	37	2	223507655	223507655	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:223507655G>T	ENST00000281828.6	-	3	447	c.184C>A	c.(184-186)Ctt>Att	p.L62I	FARSB_ENST00000536361.1_5'UTR	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	62					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|RNA binding (GO:0003723)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	ATTTTGTAAAGAACAACATCA	0.368																																						dbGAP											0													92.0	86.0	88.0					2																	223507655		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF042346	CCDS2454.1	2q36.2	2011-07-01	2007-02-23	2007-02-23	ENSG00000116120	ENSG00000116120	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	17800	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 1, beta, cytoplasmic"""	609690	"""phenylalanyl-tRNA synthetase-like, beta subunit"""	FARSLB		10049785	Standard	NM_005687		Approved	PheHB, FRSB	uc002vne.1	Q9NSD9	OTTHUMG00000133155	ENST00000281828.6:c.184C>A	2.37:g.223507655G>T	ENSP00000281828:p.Leu62Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DFM0|O95708|Q4ZFX1|Q57ZJ5|Q9NZZ6	Missense_Mutation	SNP	pfam_B3/B4_tRNA-bd,pfam_tRNA_synthase_B5-dom,superfamily_DNA-bd_dom_put,superfamily_Phe-tRNA_synthase_B3/B4,smart_B3/B4_tRNA-bd,smart_tRNA_synthase_B5-dom,tigrfam_Phe-tRNA-synth_IIc_bsu_arc	p.L62I	ENST00000281828.6	37	c.184	CCDS2454.1	2	.	.	.	.	.	.	.	.	.	.	G	7.883	0.730585	0.15507	.	.	ENSG00000116120	ENST00000281828	.	.	.	5.62	5.62	0.85841	DNA binding domain, putative (1);	0.000000	0.85682	D	0.000000	T	0.46658	0.1404	N	0.20445	0.575	0.80722	D	1	B;B	0.09022	0.002;0.001	B;B	0.11329	0.006;0.006	T	0.46884	-0.9159	9	0.02654	T	1	-9.9115	19.6753	0.95930	0.0:0.0:1.0:0.0	.	62;62	A8K666;Q9NSD9	.;SYFB_HUMAN	I	62	.	ENSP00000281828:L62I	L	-	1	0	FARSB	223215899	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.635000	0.83286	2.648000	0.89879	0.563000	0.77884	CTT	FARSB	-	superfamily_DNA-bd_dom_put,tigrfam_Phe-tRNA-synth_IIc_bsu_arc	ENSG00000116120		0.368	FARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FARSB	HGNC	protein_coding	OTTHUMT00000256855.2	124	0.00	0	G	NM_005687		223507655	223507655	-1	no_errors	ENST00000281828	ensembl	human	known	69_37n	missense	91	18.58	21	SNP	1.000	T
FASN	2194	genome.wustl.edu	37	17	80039546	80039546	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:80039546C>T	ENST00000306749.2	-	37	6555	c.6337G>A	c.(6337-6339)Gag>Aag	p.E2113K	FASN_ENST00000579758.1_Intron	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	2113	Beta-ketoacyl reductase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	GCAGCCTTCTCAGCCAGCACA	0.662																																					Colon(59;314 1043 11189 28578 32273)	dbGAP											0													55.0	48.0	51.0					17																	80039546		2200	4298	6498	-	-	-	SO:0001583	missense	0			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.6337G>A	17.37:g.80039546C>T	ENSP00000304592:p.Glu2113Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like	p.E2113K	ENST00000306749.2	37	c.6337	CCDS11801.1	17	.	.	.	.	.	.	.	.	.	.	C	18.92	3.726446	0.69074	.	.	ENSG00000169710	ENST00000306749	T	0.28666	1.6	4.68	4.68	0.58851	.	0.131895	0.50627	D	0.000118	T	0.54515	0.1863	M	0.78637	2.42	0.58432	D	0.999995	D	0.59767	0.986	P	0.60345	0.873	T	0.62595	-0.6821	10	0.72032	D	0.01	-34.1932	17.5661	0.87920	0.0:1.0:0.0:0.0	.	2113	P49327	FAS_HUMAN	K	2113	ENSP00000304592:E2113K	ENSP00000304592:E2113K	E	-	1	0	FASN	77632835	1.000000	0.71417	0.923000	0.36655	0.090000	0.18270	4.496000	0.60360	2.118000	0.64928	0.313000	0.20887	GAG	FASN	-	NULL	ENSG00000169710		0.662	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASN	HGNC	protein_coding	OTTHUMT00000442369.1	10	0.00	0	C	NM_004104		80039546	80039546	-1	no_errors	ENST00000306749	ensembl	human	known	69_37n	missense	17	26.09	6	SNP	0.998	T
FASN	2194	genome.wustl.edu	37	17	80040285	80040285	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:80040285C>G	ENST00000306749.2	-	35	6143	c.5925G>C	c.(5923-5925)ttG>ttC	p.L1975F	FASN_ENST00000579758.1_5'UTR	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1975	Beta-ketoacyl reductase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	AGCCATCTCTCAAGACCTGGG	0.632																																					Colon(59;314 1043 11189 28578 32273)	dbGAP											0													54.0	56.0	55.0					17																	80040285		2201	4300	6501	-	-	-	SO:0001583	missense	0			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.5925G>C	17.37:g.80040285C>G	ENSP00000304592:p.Leu1975Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like	p.L1975F	ENST00000306749.2	37	c.5925	CCDS11801.1	17	.	.	.	.	.	.	.	.	.	.	C	12.18	1.861123	0.32884	.	.	ENSG00000169710	ENST00000306749	T	0.50813	0.73	4.69	1.1	0.20463	Polyketide synthase/Fatty acid synthase, KR (1);NAD(P)-binding domain (1);	0.084474	0.47455	D	0.000222	T	0.63686	0.2532	M	0.86864	2.845	0.53688	D	0.999978	D	0.89917	1.0	D	0.97110	1.0	T	0.62416	-0.6859	10	0.59425	D	0.04	-22.8917	2.4423	0.04498	0.1456:0.4405:0.2526:0.1614	.	1975	P49327	FAS_HUMAN	F	1975	ENSP00000304592:L1975F	ENSP00000304592:L1975F	L	-	3	2	FASN	77633574	0.991000	0.36638	0.852000	0.33557	0.110000	0.19582	0.374000	0.20501	0.900000	0.36469	0.205000	0.17691	TTG	FASN	-	pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,smart_PKS/FAS_KR	ENSG00000169710		0.632	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASN	HGNC	protein_coding	OTTHUMT00000442369.1	28	0.00	0	C	NM_004104		80040285	80040285	-1	no_errors	ENST00000306749	ensembl	human	known	69_37n	missense	37	30.19	16	SNP	1.000	G
FASN	2194	genome.wustl.edu	37	17	80041112	80041112	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:80041112G>T	ENST00000306749.2	-	32	5749	c.5531C>A	c.(5530-5532)gCc>gAc	p.A1844D	FASN_ENST00000579758.1_5'UTR	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1844	Enoyl reductase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	CTTCCCTTGGGCCATGTAGCG	0.687																																					Colon(59;314 1043 11189 28578 32273)	dbGAP											0													86.0	79.0	81.0					17																	80041112		2203	4299	6502	-	-	-	SO:0001583	missense	0			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.5531C>A	17.37:g.80041112G>T	ENSP00000304592:p.Ala1844Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like	p.A1844D	ENST00000306749.2	37	c.5531	CCDS11801.1	17	.	.	.	.	.	.	.	.	.	.	G	19.38	3.816833	0.70912	.	.	ENSG00000169710	ENST00000306749;ENST00000545909	T	0.28069	1.63	4.77	4.77	0.60923	Polyketide synthase, enoylreductase (1);	0.181808	0.47852	D	0.000201	T	0.55305	0.1912	M	0.67569	2.06	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.60850	-0.7181	10	0.87932	D	0	-35.646	17.7642	0.88473	0.0:0.0:1.0:0.0	.	1844	P49327	FAS_HUMAN	D	1844;809	ENSP00000304592:A1844D	ENSP00000304592:A1844D	A	-	2	0	FASN	77634401	1.000000	0.71417	1.000000	0.80357	0.140000	0.21249	7.672000	0.83956	2.170000	0.68504	0.561000	0.74099	GCC	FASN	-	smart_PKS_ER	ENSG00000169710		0.687	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASN	HGNC	protein_coding	OTTHUMT00000442369.1	27	0.00	0	G	NM_004104		80041112	80041112	-1	no_errors	ENST00000306749	ensembl	human	known	69_37n	missense	24	32.43	12	SNP	1.000	T
FASTKD2	22868	genome.wustl.edu	37	2	207632006	207632006	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:207632006G>A	ENST00000236980.6	+	2	937	c.589G>A	c.(589-591)Gat>Aat	p.D197N	MDH1B_ENST00000392214.2_5'Flank|FASTKD2_ENST00000402774.3_Missense_Mutation_p.D197N|MDH1B_ENST00000454776.2_5'Flank|MDH1B_ENST00000374412.3_5'Flank|FASTKD2_ENST00000403094.3_Missense_Mutation_p.D197N|MDH1B_ENST00000449792.1_5'Flank	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	197					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		AAGACTGTCTGATGACCAGAA	0.408																																						dbGAP											0													123.0	123.0	123.0					2																	207632006		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC001544	CCDS2371.1	2q33.3	2008-02-05	2006-07-07	2006-07-07	ENSG00000118246	ENSG00000118246			29160	protein-coding gene	gene with protein product		612322	"""KIAA0971"""	KIAA0971			Standard	NM_014929		Approved		uc002vbx.3	Q9NYY8	OTTHUMG00000132917	ENST00000236980.6:c.589G>A	2.37:g.207632006G>A	ENSP00000236980:p.Asp197Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NVX6|Q9Y2H7	Missense_Mutation	SNP	pfam_FAST_Leu-rich,pfam_FAST_2,pfam_RAP,smart_RAP	p.D197N	ENST00000236980.6	37	c.589	CCDS2371.1	2	.	.	.	.	.	.	.	.	.	.	G	11.45	1.642221	0.29157	.	.	ENSG00000118246	ENST00000236980;ENST00000402774;ENST00000403094	T;T;T	0.14766	2.48;2.48;2.48	5.31	2.54	0.30619	.	1.144270	0.06479	N	0.732544	T	0.11750	0.0286	L	0.29908	0.895	0.09310	N	1	B;B	0.20052	0.041;0.017	B;B	0.21917	0.037;0.011	T	0.37291	-0.9712	10	0.33141	T	0.24	-13.4336	8.1189	0.30959	0.3061:0.0:0.6939:0.0	.	197;197	Q9NYY8-2;Q9NYY8	.;FAKD2_HUMAN	N	197	ENSP00000236980:D197N;ENSP00000385990:D197N;ENSP00000384929:D197N	ENSP00000236980:D197N	D	+	1	0	FASTKD2	207340251	0.443000	0.25641	0.004000	0.12327	0.428000	0.31595	2.753000	0.47524	0.627000	0.30340	0.561000	0.74099	GAT	FASTKD2	-	NULL	ENSG00000118246		0.408	FASTKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASTKD2	HGNC	protein_coding	OTTHUMT00000256428.2	34	0.00	0	G	NM_014929		207632006	207632006	+1	no_errors	ENST00000236980	ensembl	human	known	69_37n	missense	27	50.91	28	SNP	0.002	A
FAT1	2195	genome.wustl.edu	37	4	187541561	187541561	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:187541561G>A	ENST00000441802.2	-	10	6388	c.6179C>T	c.(6178-6180)tCt>tTt	p.S2060F		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2060	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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						GGCCACTGCAGAAGGCTTATG	0.512										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	dbGAP											0													166.0	162.0	164.0					4																	187541561		1996	4160	6156	-	-	-	SO:0001583	missense	0			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.6179C>T	4.37:g.187541561G>A	ENSP00000406229:p.Ser2060Phe	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_Laminin_G,smart_EGF-like_Ca-bd,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.S2060F	ENST00000441802.2	37	c.6179	CCDS47177.1	4	.	.	.	.	.	.	.	.	.	.	G	4.136	0.023546	0.08006	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.02709	4.19	5.2	5.2	0.72013	Cadherin (4);Cadherin-like (1);	0.564233	0.18917	N	0.127588	T	0.11324	0.0276	L	0.54323	1.7	0.46044	D	0.998831	P	0.40107	0.703	P	0.54312	0.748	T	0.00655	-1.1624	10	0.66056	D	0.02	.	18.9233	0.92534	0.0:0.0:1.0:0.0	.	2060	Q14517	FAT1_HUMAN	F	2060;2062	ENSP00000406229:S2060F	ENSP00000260147:S2062F	S	-	2	0	FAT1	187778555	0.997000	0.39634	0.438000	0.26821	0.005000	0.04900	5.160000	0.64929	2.700000	0.92200	0.563000	0.77884	TCT	FAT1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000083857		0.512	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	HGNC	protein_coding	OTTHUMT00000360209.3	86	0.00	0	G	NM_005245		187541561	187541561	-1	no_errors	ENST00000441802	ensembl	human	known	69_37n	missense	47	27.69	18	SNP	0.915	A
FAT1	2195	genome.wustl.edu	37	4	187629725	187629725	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:187629725G>C	ENST00000441802.2	-	2	1466	c.1257C>G	c.(1255-1257)ctC>ctG	p.L419L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	419	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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						AAATAGAAATGAGACCAGTGT	0.383										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	dbGAP											0													123.0	122.0	122.0					4																	187629725		1837	4102	5939	-	-	-	SO:0001819	synonymous_variant	0			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.1257C>G	4.37:g.187629725G>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_Laminin_G,smart_EGF-like_Ca-bd,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.L419	ENST00000441802.2	37	c.1257	CCDS47177.1	4																																																																																			FAT1	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000083857		0.383	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	HGNC	protein_coding	OTTHUMT00000360209.3	64	0.00	0	G	NM_005245		187629725	187629725	-1	no_errors	ENST00000441802	ensembl	human	known	69_37n	silent	44	18.31	13	SNP	1.000	C
FAT2	2196	genome.wustl.edu	37	5	150906915	150906915	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:150906915G>C	ENST00000261800.5	-	16	10200	c.10188C>G	c.(10186-10188)ctC>ctG	p.L3396L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3396	Cadherin 30. {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)			CTGTGGCTCGGAGCTTCAGGG	0.507																																						dbGAP											0													122.0	116.0	118.0					5																	150906915		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			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.10188C>G	5.37:g.150906915G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O75091|Q9NSR7	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl,smart_Cadherin,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_Cadherin,prints_Cadherin	p.P255A	ENST00000261800.5	37	c.763	CCDS4317.1	5	.	.	.	.	.	.	.	.	.	.	G	8.959	0.970054	0.18659	.	.	ENSG00000086570	ENST00000520200	.	.	.	5.49	3.31	0.37934	.	.	.	.	.	T	0.48295	0.1492	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41070	-0.9529	4	.	.	.	.	4.777	0.13184	0.1124:0.1466:0.5916:0.1494	.	.	.	.	A	255	.	.	P	-	1	0	FAT2	150887108	0.998000	0.40836	0.994000	0.49952	0.958000	0.62258	0.600000	0.24104	1.284000	0.44531	0.549000	0.68633	CCG	FAT2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000086570		0.507	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1	81	0.00	0	G	NM_001447		150906915	150906915	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000520200	ensembl	human	novel	69_37n	missense	36	30.77	16	SNP	1.000	C
FAT2	2196	genome.wustl.edu	37	5	150923332	150923332	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:150923332C>G	ENST00000261800.5	-	9	7368	c.7356G>C	c.(7354-7356)ttG>ttC	p.L2452F		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2452	Cadherin 21. {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)			CACCTACCCTCAAATTGTAAG	0.448																																						dbGAP											0													73.0	70.0	71.0					5																	150923332		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.7356G>C	5.37:g.150923332C>G	ENSP00000261800:p.Leu2452Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	O75091|Q9NSR7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.L2452F	ENST00000261800.5	37	c.7356	CCDS4317.1	5	.	.	.	.	.	.	.	.	.	.	C	14.90	2.672829	0.47781	.	.	ENSG00000086570	ENST00000261800	T	0.56776	0.44	5.68	3.75	0.43078	Cadherin (4);Cadherin-like (1);	0.000000	0.52532	D	0.000075	T	0.70343	0.3213	M	0.82193	2.58	0.53688	D	0.999979	D	0.89917	1.0	D	0.97110	1.0	T	0.71758	-0.4496	10	0.54805	T	0.06	.	9.1881	0.37182	0.0:0.6142:0.3001:0.0858	.	2452	Q9NYQ8	FAT2_HUMAN	F	2452	ENSP00000261800:L2452F	ENSP00000261800:L2452F	L	-	3	2	FAT2	150903525	0.999000	0.42202	0.998000	0.56505	0.969000	0.65631	0.622000	0.24433	2.683000	0.91414	0.561000	0.74099	TTG	FAT2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000086570		0.448	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1	62	0.00	0	C	NM_001447		150923332	150923332	-1	no_errors	ENST00000261800	ensembl	human	known	69_37n	missense	50	16.67	10	SNP	1.000	G
FAT2	2196	genome.wustl.edu	37	5	150924801	150924801	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:150924801C>G	ENST00000261800.5	-	9	5899	c.5887G>C	c.(5887-5889)Gac>Cac	p.D1963H		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1963					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)			AAGCTTTTGTCAAGCACTTGG	0.498																																						dbGAP											0													55.0	58.0	57.0					5																	150924801		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.5887G>C	5.37:g.150924801C>G	ENSP00000261800:p.Asp1963His	Somatic		WXS	Illumina GAIIx	Phase_IV	O75091|Q9NSR7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.D1963H	ENST00000261800.5	37	c.5887	CCDS4317.1	5	.	.	.	.	.	.	.	.	.	.	C	9.038	0.988912	0.18966	.	.	ENSG00000086570	ENST00000261800	T	0.66995	-0.24	4.82	2.65	0.31530	Cadherin (2);Cadherin-like (1);	0.538538	0.17109	N	0.186686	T	0.72859	0.3513	M	0.93978	3.48	0.09310	N	1	B	0.28258	0.205	B	0.31191	0.125	T	0.69292	-0.5183	10	0.87932	D	0	.	8.3136	0.32086	0.0:0.6785:0.0:0.3215	.	1963	Q9NYQ8	FAT2_HUMAN	H	1963	ENSP00000261800:D1963H	ENSP00000261800:D1963H	D	-	1	0	FAT2	150904994	0.001000	0.12720	0.660000	0.29694	0.970000	0.65996	1.190000	0.32126	0.856000	0.35383	0.491000	0.48974	GAC	FAT2	-	superfamily_Cadherin-like,smart_Cadherin	ENSG00000086570		0.498	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1	48	0.00	0	C	NM_001447		150924801	150924801	-1	no_errors	ENST00000261800	ensembl	human	known	69_37n	missense	54	23.94	17	SNP	0.000	G
FAT2	2196	genome.wustl.edu	37	5	150946695	150946695	+	Missense_Mutation	SNP	C	C	G	rs577408443		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:150946695C>G	ENST00000261800.5	-	1	1810	c.1798G>C	c.(1798-1800)Gag>Cag	p.E600Q		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	600	Cadherin 5. {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)			GATACAATCTCGTATTTTAGG	0.423																																						dbGAP											0													103.0	105.0	105.0					5																	150946695		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.1798G>C	5.37:g.150946695C>G	ENSP00000261800:p.Glu600Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O75091|Q9NSR7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.E600Q	ENST00000261800.5	37	c.1798	CCDS4317.1	5	.	.	.	.	.	.	.	.	.	.	C	7.082	0.570471	0.13560	.	.	ENSG00000086570	ENST00000261800	T	0.51817	0.69	5.75	3.94	0.45596	Cadherin (4);Cadherin-like (1);	0.180025	0.38326	N	0.001730	T	0.37999	0.1024	L	0.33668	1.02	0.22675	N	0.998865	P	0.48503	0.911	P	0.48227	0.571	T	0.13522	-1.0506	10	0.13470	T	0.59	.	8.1621	0.31204	0.0:0.7342:0.1298:0.136	.	600	Q9NYQ8	FAT2_HUMAN	Q	600	ENSP00000261800:E600Q	ENSP00000261800:E600Q	E	-	1	0	FAT2	150926888	0.067000	0.21026	0.861000	0.33841	0.804000	0.45430	0.541000	0.23207	1.402000	0.46780	0.655000	0.94253	GAG	FAT2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000086570		0.423	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1	73	0.00	0	C	NM_001447		150946695	150946695	-1	no_errors	ENST00000261800	ensembl	human	known	69_37n	missense	61	19.74	15	SNP	0.481	G
FAT2	2196	genome.wustl.edu	37	5	150946913	150946913	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:150946913C>G	ENST00000261800.5	-	1	1592	c.1580G>C	c.(1579-1581)aGa>aCa	p.R527T		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	527	Cadherin 4. {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)	p.R527I(1)		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)			GGTATAAATTCTTTTCATGAG	0.463																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											59.0	67.0	64.0					5																	150946913		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.1580G>C	5.37:g.150946913C>G	ENSP00000261800:p.Arg527Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	O75091|Q9NSR7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.R527T	ENST00000261800.5	37	c.1580	CCDS4317.1	5	.	.	.	.	.	.	.	.	.	.	C	19.24	3.789569	0.70337	.	.	ENSG00000086570	ENST00000261800	T	0.60797	0.16	5.42	5.42	0.78866	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000002	T	0.65933	0.2739	N	0.25957	0.775	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.62492	-0.6843	10	0.28530	T	0.3	.	19.2238	0.93810	0.0:1.0:0.0:0.0	.	527	Q9NYQ8	FAT2_HUMAN	T	527	ENSP00000261800:R527T	ENSP00000261800:R527T	R	-	2	0	FAT2	150927106	1.000000	0.71417	0.986000	0.45419	0.848000	0.48234	7.720000	0.84759	2.551000	0.86045	0.655000	0.94253	AGA	FAT2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000086570		0.463	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1	40	0.00	0	C	NM_001447		150946913	150946913	-1	no_errors	ENST00000261800	ensembl	human	known	69_37n	missense	34	24.44	11	SNP	0.926	G
FAT3	120114	genome.wustl.edu	37	11	92526110	92526110	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:92526110G>A	ENST00000298047.6	+	8	4806	c.4789G>A	c.(4789-4791)Gaa>Aaa	p.E1597K	FAT3_ENST00000525166.1_Missense_Mutation_p.E1447K|FAT3_ENST00000409404.2_Missense_Mutation_p.E1597K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1597	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGACAAAGGAGAAAATGCAGA	0.443										TCGA Ovarian(4;0.039)																												dbGAP											0													87.0	89.0	88.0					11																	92526110		1992	4183	6175	-	-	-	SO:0001583	missense	0			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.4789G>A	11.37:g.92526110G>A	ENSP00000298047:p.Glu1597Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_Laminin_G,smart_EGF-like_Ca-bd,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.E1597K	ENST00000298047.6	37	c.4789		11	.	.	.	.	.	.	.	.	.	.	G	9.741	1.164850	0.21538	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.51574	0.7;0.7;0.7	5.87	5.87	0.94306	.	.	.	.	.	T	0.43010	0.1228	L	0.39633	1.23	0.80722	D	1	P	0.40083	0.702	B	0.40825	0.341	T	0.17899	-1.0354	9	0.07644	T	0.81	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	1597	Q8TDW7-3	.	K	1597;1597;1447	ENSP00000298047:E1597K;ENSP00000387040:E1597K;ENSP00000432586:E1447K	ENSP00000298047:E1597K	E	+	1	0	FAT3	92165758	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.812000	0.55628	2.941000	0.99782	0.655000	0.94253	GAA	FAT3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000165323		0.443	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		86	0.00	0	G	NM_001008781		92526110	92526110	+1	no_errors	ENST00000298047	ensembl	human	known	69_37n	missense	72	22.58	21	SNP	1.000	A
FAT3	120114	genome.wustl.edu	37	11	92577427	92577427	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:92577427G>C	ENST00000298047.6	+	18	10911	c.10894G>C	c.(10894-10896)Gat>Cat	p.D3632H	FAT3_ENST00000525166.1_Missense_Mutation_p.D3482H|FAT3_ENST00000409404.2_Missense_Mutation_p.D3632H|FAT3_ENST00000533797.1_5'Flank			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3632	Cadherin 33. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGTACCCATTGATGTGGTCGT	0.542										TCGA Ovarian(4;0.039)																												dbGAP											0													142.0	147.0	146.0					11																	92577427		2166	4275	6441	-	-	-	SO:0001583	missense	0			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.10894G>C	11.37:g.92577427G>C	ENSP00000298047:p.Asp3632His	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_Laminin_G,smart_EGF-like_Ca-bd,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.D3632H	ENST00000298047.6	37	c.10894		11	.	.	.	.	.	.	.	.	.	.	G	16.96	3.266189	0.59540	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.07908	3.15;3.15;3.15	5.82	5.82	0.92795	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.26484	0.0647	L	0.54323	1.7	0.80722	D	1	D;B	0.89917	1.0;0.428	D;B	0.74348	0.983;0.191	T	0.00044	-1.2220	9	0.38643	T	0.18	.	20.093	0.97828	0.0:0.0:1.0:0.0	.	3632;3632	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	H	3632;3632;3482	ENSP00000298047:D3632H;ENSP00000387040:D3632H;ENSP00000432586:D3482H	ENSP00000298047:D3632H	D	+	1	0	FAT3	92217075	0.998000	0.40836	0.775000	0.31657	0.994000	0.84299	3.497000	0.53295	2.756000	0.94617	0.561000	0.74099	GAT	FAT3	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000165323		0.542	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		31	0.00	0	G	NM_001008781		92577427	92577427	+1	no_errors	ENST00000298047	ensembl	human	known	69_37n	missense	23	36.11	13	SNP	0.784	C
FAT4	79633	genome.wustl.edu	37	4	126369917	126369917	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:126369917C>G	ENST00000394329.3	+	9	7759	c.7746C>G	c.(7744-7746)gtC>gtG	p.V2582V	FAT4_ENST00000335110.5_Silent_p.V880V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2582	Cadherin 25. {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						ACCAACCAGTCAGCTCTCTTG	0.418																																						dbGAP											0													64.0	62.0	62.0					4																	126369917		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			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.7746C>G	4.37:g.126369917C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.V2582	ENST00000394329.3	37	c.7746	CCDS3732.3	4																																																																																			FAT4	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000196159		0.418	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	55	0.00	0	C	NM_024582		126369917	126369917	+1	no_errors	ENST00000394329	ensembl	human	known	69_37n	silent	41	24.07	13	SNP	0.000	G
FAT4	79633	genome.wustl.edu	37	4	126411444	126411444	+	Silent	SNP	T	T	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:126411444T>C	ENST00000394329.3	+	17	13480	c.13467T>C	c.(13465-13467)tgT>tgC	p.C4489C	FAT4_ENST00000335110.5_Silent_p.C2730C	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4489					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						GGCATGTCTGTGTTCTGAGTC	0.617																																						dbGAP											0													88.0	86.0	87.0					4																	126411444		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			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.13467T>C	4.37:g.126411444T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.C4489	ENST00000394329.3	37	c.13467	CCDS3732.3	4																																																																																			FAT4	-	NULL	ENSG00000196159		0.617	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	51	0.00	0	T	NM_024582		126411444	126411444	+1	no_errors	ENST00000394329	ensembl	human	known	69_37n	silent	46	26.98	17	SNP	0.987	C
FBF1	85302	genome.wustl.edu	37	17	73919394	73919394	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:73919394C>T	ENST00000586717.1	-	13	1528	c.1255G>A	c.(1255-1257)Gag>Aag	p.E419K	FBF1_ENST00000319129.5_Missense_Mutation_p.E418K|FBF1_ENST00000389570.4_Missense_Mutation_p.E419K			Q8TES7	FBF1_HUMAN	Fas (TNFRSF6) binding factor 1	419					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						TCCTCTTTCTCCTCCTTGGAG	0.647																																						dbGAP											0													14.0	17.0	16.0					17																	73919394		2004	4168	6172	-	-	-	SO:0001583	missense	0			AK074045	CCDS45779.1	17q25.3	2011-04-21			ENSG00000188878	ENSG00000188878			24674	protein-coding gene	gene with protein product	"""albatross"""					11347906	Standard	NM_001080542		Approved	FLJ00103, FBF-1, KIAA1863, ALB	uc002jqc.3	Q8TES7		ENST00000586717.1:c.1255G>A	17.37:g.73919394C>T	ENSP00000465132:p.Glu419Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	superfamily_HRDC-like	p.E419K	ENST00000586717.1	37	c.1255		17	.	.	.	.	.	.	.	.	.	.	C	6.630	0.484666	0.12641	.	.	ENSG00000188878	ENST00000337792;ENST00000389570;ENST00000319129;ENST00000427433	T;T	0.17854	2.25;2.25	5.07	-0.957	0.10350	.	.	.	.	.	T	0.08802	0.0218	N	0.13043	0.29	0.09310	N	1	B;B;B	0.11235	0.004;0.004;0.002	B;B;B	0.16722	0.011;0.016;0.005	T	0.41288	-0.9517	9	0.21014	T	0.42	-1.5931	8.1265	0.31001	0.0:0.5599:0.1542:0.2859	.	433;419;418	Q8TES7-6;Q8TES7;A6NLR5	.;FBF1_HUMAN;.	K	419;419;418;432	ENSP00000374221:E419K;ENSP00000324292:E418K	ENSP00000324292:E418K	E	-	1	0	FBF1	71430989	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	-0.791000	0.04599	-0.245000	0.09625	-0.367000	0.07326	GAG	FBF1	-	NULL	ENSG00000188878		0.647	FBF1-001	KNOWN	basic|appris_candidate	protein_coding	FBF1	HGNC	protein_coding	OTTHUMT00000448945.2	26	0.00	0	C	NM_001080542		73919394	73919394	-1	no_errors	ENST00000389570	ensembl	human	known	69_37n	missense	41	19.61	10	SNP	0.000	T
FBF1	85302	genome.wustl.edu	37	17	73929158	73929158	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:73929158C>G	ENST00000586717.1	-	4	316	c.43G>C	c.(43-45)Gag>Cag	p.E15Q	FBF1_ENST00000319129.5_Missense_Mutation_p.E15Q|FBF1_ENST00000389570.4_Missense_Mutation_p.E15Q			Q8TES7	FBF1_HUMAN	Fas (TNFRSF6) binding factor 1	15					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						ACAGGCTTCTCAGGTAGTGTC	0.463																																						dbGAP											0													62.0	58.0	59.0					17																	73929158		1898	4121	6019	-	-	-	SO:0001583	missense	0			AK074045	CCDS45779.1	17q25.3	2011-04-21			ENSG00000188878	ENSG00000188878			24674	protein-coding gene	gene with protein product	"""albatross"""					11347906	Standard	NM_001080542		Approved	FLJ00103, FBF-1, KIAA1863, ALB	uc002jqc.3	Q8TES7		ENST00000586717.1:c.43G>C	17.37:g.73929158C>G	ENSP00000465132:p.Glu15Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	superfamily_HRDC-like	p.E15Q	ENST00000586717.1	37	c.43		17	.	.	.	.	.	.	.	.	.	.	C	13.10	2.135806	0.37728	.	.	ENSG00000188878	ENST00000337792;ENST00000389570;ENST00000319129;ENST00000427433	T;T	0.22945	1.93;1.93	3.87	2.89	0.33648	.	.	.	.	.	T	0.39253	0.1071	M	0.62723	1.935	0.09310	N	1	D;P;D	0.67145	0.996;0.525;0.996	P;B;P	0.56563	0.801;0.117;0.714	T	0.12708	-1.0537	9	0.72032	D	0.01	-6.2517	9.5617	0.39373	0.0:0.786:0.214:0.0	.	29;15;15	Q8TES7-6;Q8TES7;A6NLR5	.;FBF1_HUMAN;.	Q	15;15;15;28	ENSP00000374221:E15Q;ENSP00000324292:E15Q	ENSP00000324292:E15Q	E	-	1	0	FBF1	71440753	0.990000	0.36364	0.013000	0.15412	0.003000	0.03518	3.091000	0.50199	1.175000	0.42826	-0.182000	0.12963	GAG	FBF1	-	NULL	ENSG00000188878		0.463	FBF1-001	KNOWN	basic|appris_candidate	protein_coding	FBF1	HGNC	protein_coding	OTTHUMT00000448945.2	62	0.00	0	C	NM_001080542		73929158	73929158	-1	no_errors	ENST00000389570	ensembl	human	known	69_37n	missense	55	20.29	14	SNP	0.021	G
FBLN2	2199	genome.wustl.edu	37	3	13649653	13649653	+	Silent	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:13649653C>A	ENST00000295760.7	+	3	1467	c.1398C>A	c.(1396-1398)ggC>ggA	p.G466G	FBLN2_ENST00000535798.1_Silent_p.G492G|FBLN2_ENST00000492059.1_Silent_p.G466G|FBLN2_ENST00000404922.3_Silent_p.G466G	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	466	Anaphylatoxin-like 1. {ECO:0000255|PROSITE-ProRule:PRU00022}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CTGAGAGTGGCACTGAGGACA	0.612																																						dbGAP											0													60.0	66.0	64.0					3																	13649653		2170	4266	6436	-	-	-	SO:0001819	synonymous_variant	0			X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"""Fibulins"""	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.1398C>A	3.37:g.13649653C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z9C5|Q8IUI0|Q8IUI1	Silent	SNP	pfam_EGF-like_Ca-bd,pfam_Anaphylatoxin/fibulin,superfamily_Anaphylatoxin_,smart_EGF-like,smart_Anaphylatoxin/fibulin,smart_EGF-like_Ca-bd,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom	p.G466	ENST00000295760.7	37	c.1398	CCDS46762.1	3																																																																																			FBLN2	-	pfam_Anaphylatoxin/fibulin,superfamily_Anaphylatoxin_,smart_Anaphylatoxin/fibulin,pfscan_Anaphylatoxin/fibulin	ENSG00000163520		0.612	FBLN2-002	KNOWN	basic|CCDS	protein_coding	FBLN2	HGNC	protein_coding	OTTHUMT00000340083.3	54	0.00	0	C	NM_001004019		13649653	13649653	+1	no_errors	ENST00000404922	ensembl	human	known	69_37n	silent	66	16.46	13	SNP	0.000	A
FBLN2	2199	genome.wustl.edu	37	3	13668000	13668000	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:13668000G>A	ENST00000295760.7	+	9	2280	c.2211G>A	c.(2209-2211)gtG>gtA	p.V737V	FBLN2_ENST00000535798.1_Silent_p.V763V|FBLN2_ENST00000492059.1_Silent_p.V784V|FBLN2_ENST00000404922.3_Silent_p.V784V	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	737	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			AGCACTGTGTGAACACACTGG	0.617																																						dbGAP											0													26.0	29.0	28.0					3																	13668000		2127	4228	6355	-	-	-	SO:0001819	synonymous_variant	0			X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"""Fibulins"""	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.2211G>A	3.37:g.13668000G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z9C5|Q8IUI0|Q8IUI1	Silent	SNP	pfam_EGF-like_Ca-bd,pfam_Anaphylatoxin/fibulin,superfamily_Anaphylatoxin_,smart_EGF-like,smart_Anaphylatoxin/fibulin,smart_EGF-like_Ca-bd,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom	p.V784	ENST00000295760.7	37	c.2352	CCDS46762.1	3																																																																																			FBLN2	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like	ENSG00000163520		0.617	FBLN2-002	KNOWN	basic|CCDS	protein_coding	FBLN2	HGNC	protein_coding	OTTHUMT00000340083.3	12	0.00	0	G	NM_001004019		13668000	13668000	+1	no_errors	ENST00000404922	ensembl	human	known	69_37n	silent	16	27.27	6	SNP	0.997	A
FBN1	2200	genome.wustl.edu	37	15	48714260	48714260	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:48714260C>G	ENST00000316623.5	-	61	7914	c.7459G>C	c.(7459-7461)Gat>Cat	p.D2487H		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2487	EGF-like 43; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GCACACTCATCAAGATCTACA	0.468																																						dbGAP											0													94.0	79.0	84.0					15																	48714260		2198	4296	6494	-	-	-	SO:0001583	missense	0			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.7459G>C	15.37:g.48714260C>G	ENSP00000325527:p.Asp2487His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF-like_Ca-bd,pirsf_Fibrillin,pfscan_EG-like_dom	p.D2487H	ENST00000316623.5	37	c.7459	CCDS32232.1	15	.	.	.	.	.	.	.	.	.	.	C	29.8	5.040810	0.93685	.	.	ENSG00000166147	ENST00000316623	D	0.95622	-3.76	5.89	5.89	0.94794	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.98529	0.9509	H	0.94264	3.515	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99072	1.0834	10	0.87932	D	0	.	19.8568	0.96762	0.0:1.0:0.0:0.0	.	2487	P35555	FBN1_HUMAN	H	2487	ENSP00000325527:D2487H	ENSP00000325527:D2487H	D	-	1	0	FBN1	46501552	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.818000	0.86416	2.793000	0.96121	0.655000	0.94253	GAT	FBN1	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,pirsf_Fibrillin,pfscan_EG-like_dom	ENSG00000166147		0.468	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN1	HGNC	protein_coding	OTTHUMT00000417355.1	66	0.00	0	C			48714260	48714260	-1	no_errors	ENST00000316623	ensembl	human	known	69_37n	missense	53	18.46	12	SNP	1.000	G
FBN1	2200	genome.wustl.edu	37	15	48720660	48720660	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:48720660C>T	ENST00000316623.5	-	57	7335	c.6880G>A	c.(6880-6882)Gaa>Aaa	p.E2294K		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2294	EGF-like 40; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GTCTGACATTCATTCTCATCT	0.483																																						dbGAP											0													114.0	93.0	100.0					15																	48720660		2198	4296	6494	-	-	-	SO:0001583	missense	0			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.6880G>A	15.37:g.48720660C>T	ENSP00000325527:p.Glu2294Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF-like_Ca-bd,pirsf_Fibrillin,pfscan_EG-like_dom	p.E2294K	ENST00000316623.5	37	c.6880	CCDS32232.1	15	.	.	.	.	.	.	.	.	.	.	C	35	5.589663	0.96590	.	.	ENSG00000166147	ENST00000316623;ENST00000389087	D	0.98849	-5.18	5.76	5.76	0.90799	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.045060	0.85682	D	0.000000	D	0.99402	0.9789	M	0.93328	3.405	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	D	0.98799	1.0739	10	0.87932	D	0	.	19.5738	0.95432	0.0:1.0:0.0:0.0	.	2294	P35555	FBN1_HUMAN	K	2294;862	ENSP00000325527:E2294K	ENSP00000325527:E2294K	E	-	1	0	FBN1	46507952	1.000000	0.71417	0.778000	0.31720	0.907000	0.53573	7.818000	0.86416	2.719000	0.93026	0.555000	0.69702	GAA	FBN1	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pirsf_Fibrillin,pfscan_EG-like_dom	ENSG00000166147		0.483	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN1	HGNC	protein_coding	OTTHUMT00000417355.1	87	0.00	0	C			48720660	48720660	-1	no_errors	ENST00000316623	ensembl	human	known	69_37n	missense	66	16.46	13	SNP	1.000	T
FBN1	2200	genome.wustl.edu	37	15	48729539	48729539	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:48729539C>G	ENST00000316623.5	-	52	6814	c.6359G>C	c.(6358-6360)gGa>gCa	p.G2120A		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2120					extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ATCATCAGGTCCCACGATGAT	0.423																																						dbGAP											0													71.0	72.0	72.0					15																	48729539		2198	4296	6494	-	-	-	SO:0001583	missense	0			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.6359G>C	15.37:g.48729539C>G	ENSP00000325527:p.Gly2120Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF-like_Ca-bd,pirsf_Fibrillin,pfscan_EG-like_dom	p.G2120A	ENST00000316623.5	37	c.6359	CCDS32232.1	15	.	.	.	.	.	.	.	.	.	.	C	17.69	3.451783	0.63290	.	.	ENSG00000166147	ENST00000316623;ENST00000389087;ENST00000544030	D	0.90955	-2.76	5.55	4.63	0.57726	Matrix fibril-associated (1);	0.279473	0.40818	N	0.001007	D	0.85358	0.5678	L	0.40543	1.245	0.80722	D	1	P	0.39782	0.688	B	0.31946	0.138	D	0.85560	0.1227	10	0.45353	T	0.12	.	16.2466	0.82448	0.0:0.8669:0.1331:0.0	.	2120	P35555	FBN1_HUMAN	A	2120;688;1010	ENSP00000325527:G2120A	ENSP00000325527:G2120A	G	-	2	0	FBN1	46516831	0.999000	0.42202	0.999000	0.59377	0.966000	0.64601	3.090000	0.50191	1.567000	0.49668	0.655000	0.94253	GGA	FBN1	-	superfamily_TB_dom,pirsf_Fibrillin	ENSG00000166147		0.423	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN1	HGNC	protein_coding	OTTHUMT00000417355.1	51	0.00	0	C			48729539	48729539	-1	no_errors	ENST00000316623	ensembl	human	known	69_37n	missense	37	26.00	13	SNP	1.000	G
FBN2	2201	genome.wustl.edu	37	5	127611847	127611847	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:127611847C>G	ENST00000508053.1	-	65	8451	c.7477G>C	c.(7477-7479)Gat>Cat	p.D2493H	FBN2_ENST00000262464.4_Missense_Mutation_p.D2493H			P35556	FBN2_HUMAN	fibrillin 2	2493	EGF-like 42; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GAGCATTCATCAAGGTCTAAG	0.413																																						dbGAP											0													140.0	125.0	130.0					5																	127611847		2203	4300	6503	-	-	-	SO:0001583	missense	0			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.7477G>C	5.37:g.127611847C>G	ENSP00000424571:p.Asp2493His	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DU01|Q59ES6	Missense_Mutation	SNP	pirsf_Fibrillin,pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.D2493H	ENST00000508053.1	37	c.7477	CCDS34222.1	5	.	.	.	.	.	.	.	.	.	.	C	27.1	4.798109	0.90538	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.95622	-3.76;-3.76	5.16	5.16	0.70880	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000007	D	0.98333	0.9447	M	0.93016	3.37	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.98962	1.0798	10	0.87932	D	0	.	19.2125	0.93763	0.0:1.0:0.0:0.0	.	2493	P35556	FBN2_HUMAN	H	2493	ENSP00000262464:D2493H;ENSP00000424571:D2493H	ENSP00000262464:D2493H	D	-	1	0	FBN2	127639746	1.000000	0.71417	0.993000	0.49108	0.979000	0.70002	5.862000	0.69560	2.840000	0.97914	0.655000	0.94253	GAT	FBN2	-	pirsf_Fibrillin,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	ENSG00000138829		0.413	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN2	HGNC	protein_coding	OTTHUMT00000371618.2	108	0.00	0	C	NM_001999		127611847	127611847	-1	no_errors	ENST00000262464	ensembl	human	known	69_37n	missense	85	21.30	23	SNP	1.000	G
FBN2	2201	genome.wustl.edu	37	5	127680194	127680194	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:127680194C>T	ENST00000508053.1	-	31	4200	c.3226G>A	c.(3226-3228)Gaa>Aaa	p.E1076K	FBN2_ENST00000262464.4_Missense_Mutation_p.E1076K|FBN2_ENST00000508989.1_Missense_Mutation_p.E1043K			P35556	FBN2_HUMAN	fibrillin 2	1076	EGF-like 15; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GCTTTGCATTCATTGATGTCT	0.398																																						dbGAP											0													100.0	97.0	98.0					5																	127680194		2203	4300	6503	-	-	-	SO:0001583	missense	0			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.3226G>A	5.37:g.127680194C>T	ENSP00000424571:p.Glu1076Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DU01|Q59ES6	Missense_Mutation	SNP	pirsf_Fibrillin,pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.E1076K	ENST00000508053.1	37	c.3226	CCDS34222.1	5	.	.	.	.	.	.	.	.	.	.	C	19.66	3.868889	0.72065	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.98849	-5.18;-5.18;-5.18	4.3	4.3	0.51218	Matrix fibril-associated (1);EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000011	D	0.99402	0.9789	H	0.95402	3.665	0.80722	D	1	P;D	0.69078	0.898;0.997	P;D	0.79108	0.823;0.992	D	0.98308	1.0522	10	0.87932	D	0	.	18.0879	0.89463	0.0:1.0:0.0:0.0	.	1043;1076	D6RJI3;P35556	.;FBN2_HUMAN	K	1076;1076;1043	ENSP00000262464:E1076K;ENSP00000424571:E1076K;ENSP00000425596:E1043K	ENSP00000262464:E1076K	E	-	1	0	FBN2	127708093	1.000000	0.71417	1.000000	0.80357	0.022000	0.10575	7.602000	0.82796	2.697000	0.92050	0.555000	0.69702	GAA	FBN2	-	pirsf_Fibrillin,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom	ENSG00000138829		0.398	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN2	HGNC	protein_coding	OTTHUMT00000371618.2	65	0.00	0	C	NM_001999		127680194	127680194	-1	no_errors	ENST00000262464	ensembl	human	known	69_37n	missense	64	20.00	16	SNP	1.000	T
FBP1	2203	genome.wustl.edu	37	9	97369126	97369126	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:97369126C>T	ENST00000375326.4	-	5	872	c.676G>A	c.(676-678)Gag>Aag	p.E226K	FBP1_ENST00000415431.1_Missense_Mutation_p.E226K	NM_000507.3	NP_000498.2	P09467	F16P1_HUMAN	fructose-1,6-bisphosphatase 1	226					carbohydrate metabolic process (GO:0005975)|cellular response to drug (GO:0035690)|cellular response to magnesium ion (GO:0071286)|dephosphorylation (GO:0016311)|fructose 6-phosphate metabolic process (GO:0006002)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|negative regulation of cell growth (GO:0030308)|negative regulation of glycolytic process (GO:0045820)|negative regulation of Ras protein signal transduction (GO:0046580)|protein homotetramerization (GO:0051289)|regulation of gluconeogenesis (GO:0006111)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	AMP binding (GO:0016208)|fructose 1,6-bisphosphate 1-phosphatase activity (GO:0042132)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|monosaccharide binding (GO:0048029)			kidney(1)|liver(1)|lung(1)	3		Acute lymphoblastic leukemia(62;0.136)			Adenosine monophosphate(DB00131)	TGGATGTACTCAGTGACGGCA	0.547																																					Ovarian(142;590 2466 25593 44496)	dbGAP											0													105.0	94.0	98.0					9																	97369126		2203	4300	6503	-	-	-	SO:0001583	missense	0			M19922	CCDS6712.1	9q22.3	2012-08-13			ENSG00000165140	ENSG00000165140	3.1.3.11		3606	protein-coding gene	gene with protein product		611570		FBP		8387495	Standard	NM_000507		Approved		uc004auw.4	P09467	OTTHUMG00000020268	ENST00000375326.4:c.676G>A	9.37:g.97369126C>T	ENSP00000364475:p.Glu226Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O75571|Q53F94|Q96E46	Missense_Mutation	SNP	pfam_FBPase_class-1/SBPase,pfam_Inositol_monophosphatase,prints_FBPase_class-1/SBPase,prints_SBPase	p.E226K	ENST00000375326.4	37	c.676	CCDS6712.1	9	.	.	.	.	.	.	.	.	.	.	C	18.06	3.539546	0.65085	.	.	ENSG00000165140	ENST00000375326;ENST00000415431;ENST00000414122	T;T;T	0.71461	-0.57;-0.57;-0.57	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.64023	0.2561	L	0.33668	1.02	0.80722	D	1	P	0.36199	0.543	B	0.42343	0.384	T	0.59669	-0.7411	10	0.02654	T	1	-39.3654	19.3929	0.94592	0.0:1.0:0.0:0.0	.	226	P09467	F16P1_HUMAN	K	226;226;142	ENSP00000364475:E226K;ENSP00000408025:E226K;ENSP00000411619:E142K	ENSP00000364475:E226K	E	-	1	0	FBP1	96408947	1.000000	0.71417	0.782000	0.31804	0.649000	0.38597	7.452000	0.80683	2.583000	0.87209	0.655000	0.94253	GAG	FBP1	-	pfam_FBPase_class-1/SBPase,prints_FBPase_class-1/SBPase	ENSG00000165140		0.547	FBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBP1	HGNC	protein_coding	OTTHUMT00000053187.1	126	0.00	0	C	NM_000507		97369126	97369126	-1	no_errors	ENST00000375326	ensembl	human	known	69_37n	missense	75	35.34	41	SNP	1.000	T
FBXL4	26235	genome.wustl.edu	37	6	99328466	99328466	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:99328466G>A	ENST00000369244.2	-	8	1780	c.1352C>T	c.(1351-1353)tCa>tTa	p.S451L	FBXL4_ENST00000229971.1_Missense_Mutation_p.S451L	NM_001278716.1	NP_001265645.1	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	451					ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		CTGAAGCTCTGAACAGAAGTT	0.403																																						dbGAP											0													107.0	90.0	95.0					6																	99328466		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF176699	CCDS5041.1	6q16.1-q16.3	2011-06-09			ENSG00000112234	ENSG00000112234		"""F-boxes / Leucine-rich repeats"""	13601	protein-coding gene	gene with protein product		605654				10531035	Standard	NM_012160		Approved	FBL4, FBL5	uc003ppf.1	Q9UKA2	OTTHUMG00000015259	ENST00000369244.2:c.1352C>T	6.37:g.99328466G>A	ENSP00000358247:p.Ser451Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7Q5|E1P530|O95919|Q5BJH0|Q9UJU0	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like	p.S451L	ENST00000369244.2	37	c.1352	CCDS5041.1	6	.	.	.	.	.	.	.	.	.	.	G	15.18	2.757741	0.49468	.	.	ENSG00000112234	ENST00000369244;ENST00000229971	T;T	0.18960	2.18;2.18	5.58	5.58	0.84498	.	0.426406	0.26987	N	0.021494	T	0.11965	0.0291	L	0.39397	1.21	0.36365	D	0.860923	B	0.06786	0.001	B	0.06405	0.002	T	0.03259	-1.1055	10	0.40728	T	0.16	.	19.5633	0.95382	0.0:0.0:1.0:0.0	.	451	Q9UKA2	FBXL4_HUMAN	L	451	ENSP00000358247:S451L;ENSP00000229971:S451L	ENSP00000229971:S451L	S	-	2	0	FBXL4	99435187	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.041000	0.64196	2.650000	0.89964	0.591000	0.81541	TCA	FBXL4	-	smart_Leu-rich_rpt_Cys-con_subtyp	ENSG00000112234		0.403	FBXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL4	HGNC	protein_coding	OTTHUMT00000041587.2	73	0.00	0	G			99328466	99328466	-1	no_errors	ENST00000229971	ensembl	human	known	69_37n	missense	42	28.81	17	SNP	1.000	A
FBXL8	55336	genome.wustl.edu	37	16	67196909	67196909	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:67196909G>A	ENST00000258200.3	+	3	488	c.311G>A	c.(310-312)cGa>cAa	p.R104Q	HSF4_ENST00000521374.1_5'Flank|HSF4_ENST00000584272.1_5'Flank|TRADD_ENST00000345057.4_5'Flank|RP11-5A19.5_ENST00000518227.1_5'Flank|FBXL8_ENST00000519917.1_Missense_Mutation_p.R104Q|HSF4_ENST00000421453.1_5'Flank|HSF4_ENST00000264009.8_5'Flank			Q96CD0	FBXL8_HUMAN	F-box and leucine-rich repeat protein 8	104										endometrium(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0144)|Epithelial(162;0.0338)|all cancers(182;0.185)		CCGGGGCTGCGAGGCCTGCGC	0.687																																						dbGAP											0													9.0	10.0	10.0					16																	67196909		2121	4148	6269	-	-	-	SO:0001583	missense	0			AK002140	CCDS10831.1	16q22.1-q22.3	2013-01-22			ENSG00000135722	ENSG00000135722		"""F-boxes / Leucine-rich repeats"""	17875	protein-coding gene	gene with protein product		609077					Standard	NM_018378		Approved	Fbl8	uc002erk.1	Q96CD0	OTTHUMG00000137514	ENST00000258200.3:c.311G>A	16.37:g.67196909G>A	ENSP00000258200:p.Arg104Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NUM0	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.R104Q	ENST00000258200.3	37	c.311	CCDS10831.1	16	.	.	.	.	.	.	.	.	.	.	G	9.825	1.186827	0.21870	.	.	ENSG00000135722	ENST00000258200;ENST00000519917;ENST00000523893;ENST00000519378	.	.	.	4.95	0.281	0.15687	.	0.417082	0.19632	N	0.109652	T	0.20333	0.0489	N	0.25144	0.715	0.22050	N	0.999395	B	0.13145	0.007	B	0.08055	0.003	T	0.26430	-1.0103	9	0.06757	T	0.87	-0.0405	6.7948	0.23719	0.507:0.0:0.493:0.0	.	104	Q96CD0	FBXL8_HUMAN	Q	104	.	ENSP00000258200:R104Q	R	+	2	0	FBXL8	65754410	0.999000	0.42202	0.208000	0.23602	0.407000	0.30961	0.610000	0.24253	0.188000	0.20168	0.655000	0.94253	CGA	FBXL8	-	NULL	ENSG00000135722		0.687	FBXL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL8	HGNC	protein_coding	OTTHUMT00000268834.2	22	0.00	0	G			67196909	67196909	+1	no_errors	ENST00000258200	ensembl	human	known	69_37n	missense	12	33.33	6	SNP	0.318	A
SARS2	54938	genome.wustl.edu	37	19	39412197	39412197	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:39412197C>T	ENST00000221431.6	-	4	663	c.504G>A	c.(502-504)ctG>ctA	p.L168L	SARS2_ENST00000594171.1_5'UTR|CTC-360G5.8_ENST00000599996.1_Missense_Mutation_p.E238K|SARS2_ENST00000600042.1_Silent_p.L170L|SARS2_ENST00000430193.3_Silent_p.L168L|SARS2_ENST00000448145.2_Silent_p.L168L	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2, mitochondrial	168					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|serine-tRNA ligase activity (GO:0004828)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			TGGGCAGCTTCAGCGCCTGCA	0.657																																						dbGAP											0													60.0	53.0	55.0					19																	39412197		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB029948	CCDS33017.1, CCDS54265.1	19q13.2	2014-05-06	2007-02-23			ENSG00000104835	6.1.1.11	"""Aminoacyl tRNA synthetases / Class II"""	17697	protein-coding gene	gene with protein product	"""serine tRNA ligase 2, mitochondrial"""	612804	"""serine-tRNA ligase, mitochondrial"", ""seryl-tRNA synthetase 2"""	SARSM		10764807	Standard	NM_001145901		Approved	FLJ20450, mtSerRS, SerRSmt, SARS, SERS, SYS	uc010xup.1	Q9NP81	OTTHUMG00000182691	ENST00000221431.6:c.504G>A	19.37:g.39412197C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHW7|B4DE10|Q9BVP3	Silent	SNP	pirsf_Ser-tRNA-synth_IIa,pfam_aa-tRNA-synt_IIb_cons-dom,superfamily_tRNA-bd_arm,prints_Ser-tRNA-synth_IIa,pfscan_aa-tRNA-synth_II,tigrfam_Ser-tRNA-synth_IIa	p.L170	ENST00000221431.6	37	c.510	CCDS33017.1	19																																																																																			FBXO17	-	pirsf_Ser-tRNA-synth_IIa,superfamily_tRNA-bd_arm,tigrfam_Ser-tRNA-synth_IIa	ENSG00000104835		0.657	SARS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FBXO17	HGNC	protein_coding	OTTHUMT00000463139.1	17	0.00	0	C	NM_017827		39412197	39412197	-1	no_errors	ENST00000430193	ensembl	human	known	69_37n	silent	33	17.50	7	SNP	0.188	T
SARS2	54938	genome.wustl.edu	37	19	39416865	39416865	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:39416865C>A	ENST00000221431.6	-	2	502	c.343G>T	c.(343-345)Gag>Tag	p.E115*	SARS2_ENST00000594171.1_5'UTR|CTC-360G5.8_ENST00000599996.1_Nonstop_Mutation_p.*184L|SARS2_ENST00000600042.1_Nonsense_Mutation_p.E115*|SARS2_ENST00000430193.3_Nonsense_Mutation_p.E115*|SARS2_ENST00000448145.2_Nonsense_Mutation_p.E115*	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2, mitochondrial	115					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|serine-tRNA ligase activity (GO:0004828)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CGCACTGCCTCAGTCACAGCT	0.572																																						dbGAP											0													74.0	56.0	62.0					19																	39416865		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB029948	CCDS33017.1, CCDS54265.1	19q13.2	2014-05-06	2007-02-23			ENSG00000104835	6.1.1.11	"""Aminoacyl tRNA synthetases / Class II"""	17697	protein-coding gene	gene with protein product	"""serine tRNA ligase 2, mitochondrial"""	612804	"""serine-tRNA ligase, mitochondrial"", ""seryl-tRNA synthetase 2"""	SARSM		10764807	Standard	NM_001145901		Approved	FLJ20450, mtSerRS, SerRSmt, SARS, SERS, SYS	uc010xup.1	Q9NP81	OTTHUMG00000182691	ENST00000221431.6:c.343G>T	19.37:g.39416865C>A	ENSP00000221431:p.Glu115*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHW7|B4DE10|Q9BVP3	Nonsense_Mutation	SNP	pirsf_Ser-tRNA-synth_IIa,pfam_aa-tRNA-synt_IIb_cons-dom,superfamily_tRNA-bd_arm,prints_Ser-tRNA-synth_IIa,pfscan_aa-tRNA-synth_II,tigrfam_Ser-tRNA-synth_IIa	p.E115*	ENST00000221431.6	37	c.343	CCDS33017.1	19	.	.	.	.	.	.	.	.	.	.	C	20.5	4.005109	0.74932	.	.	ENSG00000104835	ENST00000430193;ENST00000221431;ENST00000448145;ENST00000455102	.	.	.	4.47	3.36	0.38483	.	0.691756	0.13772	N	0.363853	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	.	10.928	0.47201	0.0:0.809:0.191:0.0	.	.	.	.	X	115	.	ENSP00000221431:E115X	E	-	1	0	FBXO17	44108705	0.018000	0.18449	0.921000	0.36526	0.064000	0.16182	0.746000	0.26275	2.191000	0.70037	0.407000	0.27541	GAG	FBXO17	-	pirsf_Ser-tRNA-synth_IIa,superfamily_tRNA-bd_arm,tigrfam_Ser-tRNA-synth_IIa	ENSG00000104835		0.572	SARS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FBXO17	HGNC	protein_coding	OTTHUMT00000463139.1	45	0.00	0	C	NM_017827		39416865	39416865	-1	no_errors	ENST00000430193	ensembl	human	known	69_37n	nonsense	26	16.13	5	SNP	0.925	A
FBXO30	84085	genome.wustl.edu	37	6	146126299	146126299	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:146126299C>T	ENST00000237281.4	-	2	1409	c.1243G>A	c.(1243-1245)Gaa>Aaa	p.E415K		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	415							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		ATAGGATCTTCTGCAACTTCC	0.408																																						dbGAP											0													200.0	209.0	206.0					6																	146126299		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF248640	CCDS5208.1	6q24	2008-02-05	2004-06-15		ENSG00000118496	ENSG00000118496		"""F-boxes /  ""other"""""	15600	protein-coding gene	gene with protein product		609101	"""F-box only protein, helicase, 18"""				Standard	XM_005267159		Approved	MGC21674, Fbx30	uc003qla.3	Q8TB52	OTTHUMG00000015749	ENST00000237281.4:c.1243G>A	6.37:g.146126299C>T	ENSP00000237281:p.Glu415Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BXZ7	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,superfamily_TRAF-like,pfscan_F-box_dom_cyclin-like,pfscan_Znf_TRAF	p.E415K	ENST00000237281.4	37	c.1243	CCDS5208.1	6	.	.	.	.	.	.	.	.	.	.	C	20.6	4.018026	0.75275	.	.	ENSG00000118496	ENST00000237281	T	0.41400	1.0	5.66	5.66	0.87406	.	0.136146	0.64402	D	0.000003	T	0.40546	0.1121	M	0.65975	2.015	0.80722	D	1	P	0.50443	0.935	P	0.45310	0.476	T	0.24440	-1.0160	10	0.38643	T	0.18	-24.5862	20.1041	0.97884	0.0:1.0:0.0:0.0	.	415	Q8TB52	FBX30_HUMAN	K	415	ENSP00000237281:E415K	ENSP00000237281:E415K	E	-	1	0	FBXO30	146167992	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.445000	0.80570	2.826000	0.97356	0.655000	0.94253	GAA	FBXO30	-	NULL	ENSG00000118496		0.408	FBXO30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO30	HGNC	protein_coding	OTTHUMT00000042570.2	90	0.00	0	C			146126299	146126299	-1	no_errors	ENST00000237281	ensembl	human	known	69_37n	missense	48	28.36	19	SNP	1.000	T
FBXO40	51725	genome.wustl.edu	37	3	121341694	121341694	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:121341694C>G	ENST00000338040.4	+	3	1832	c.1418C>G	c.(1417-1419)tCt>tGt	p.S473C		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	473					muscle cell differentiation (GO:0042692)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		AAAAGCAGCTCTGCCTTCACT	0.542																																						dbGAP											0													98.0	91.0	93.0					3																	121341694		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833		"""F-boxes /  ""other"""""	29816	protein-coding gene	gene with protein product		609107				10574462	Standard	NM_016298		Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.1418C>G	3.37:g.121341694C>G	ENSP00000337510:p.Ser473Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAX7|Q32M70|Q9ULM5	Missense_Mutation	SNP	superfamily_F-box_dom_cyclin-like,superfamily_TRAF-like,pfscan_F-box_dom_cyclin-like,pfscan_Znf_TRAF	p.S473C	ENST00000338040.4	37	c.1418	CCDS33835.1	3	.	.	.	.	.	.	.	.	.	.	C	19.00	3.741523	0.69304	.	.	ENSG00000163833	ENST00000338040	T	0.59502	0.26	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.74650	0.3744	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73830	-0.3859	10	0.54805	T	0.06	-14.553	17.9326	0.89002	0.0:1.0:0.0:0.0	.	473	Q9UH90	FBX40_HUMAN	C	473	ENSP00000337510:S473C	ENSP00000337510:S473C	S	+	2	0	FBXO40	122824384	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.818000	0.86416	2.836000	0.97738	0.655000	0.94253	TCT	FBXO40	-	NULL	ENSG00000163833		0.542	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO40	HGNC	protein_coding	OTTHUMT00000355158.1	85	0.00	0	C	NM_016298		121341694	121341694	+1	no_errors	ENST00000338040	ensembl	human	known	69_37n	missense	79	22.55	23	SNP	1.000	G
FBXO43	286151	genome.wustl.edu	37	8	101146033	101146033	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:101146033G>C	ENST00000428847.2	-	5	2440	c.2124C>G	c.(2122-2124)ctC>ctG	p.L708L		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	708					meiotic nuclear division (GO:0007126)|negative regulation of meiosis (GO:0045835)|negative regulation of protein catabolic process (GO:0042177)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			AGTCTCTTCAGAGGCGTTTTA	0.383																																						dbGAP											0													99.0	91.0	94.0					8																	101146033		1830	4080	5910	-	-	-	SO:0001819	synonymous_variant	0			BC028709	CCDS47904.1	8q22.3	2004-08-24			ENSG00000156509	ENSG00000156509		"""F-boxes /  ""other"""""	28521	protein-coding gene	gene with protein product		609110					Standard	NR_036491		Approved	Fbx43	uc003yjd.3	Q4G163	OTTHUMG00000164803	ENST00000428847.2:c.2124C>G	8.37:g.101146033G>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Znf_C6HC,superfamily_F-box_dom_cyclin-like,smart_Znf_C6HC	p.L708	ENST00000428847.2	37	c.2124	CCDS47904.1	8																																																																																			FBXO43	-	NULL	ENSG00000156509		0.383	FBXO43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO43	HGNC	protein_coding	OTTHUMT00000380380.1	100	0.00	0	G	XM_209918		101146033	101146033	-1	no_errors	ENST00000428847	ensembl	human	known	69_37n	silent	56	55.56	70	SNP	0.925	C
FBXW2	26190	genome.wustl.edu	37	9	123527011	123527011	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:123527011C>G	ENST00000608872.1	-	8	1378	c.1191G>C	c.(1189-1191)ctG>ctC	p.L397L	FBXW2_ENST00000340778.5_Silent_p.L332L|FBXW2_ENST00000493559.1_Intron	NM_012164.3	NP_036296.2	Q9UKT8	FBXW2_HUMAN	F-box and WD repeat domain containing 2	397					cellular protein modification process (GO:0006464)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)			ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						AGCGACTAATCAGGCTCTCTG	0.522																																						dbGAP											0													116.0	116.0	116.0					9																	123527011		1966	4157	6123	-	-	-	SO:0001819	synonymous_variant	0			AF129531	CCDS43872.1	9q34	2013-01-09	2007-02-08		ENSG00000119402	ENSG00000119402		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13608	protein-coding gene	gene with protein product		609071	"""F-box and WD-40 domain protein 2"""			10531035, 10828603	Standard	NM_012164		Approved	FBW2, Md6, Fwd2	uc004bkm.1	Q9UKT8	OTTHUMG00000020576	ENST00000608872.1:c.1191G>C	9.37:g.123527011C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KRL8|Q4VXH2|Q7Z4V6|Q8WV51|Q9HA09|Q9UKA3	Silent	SNP	pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.L397	ENST00000608872.1	37	c.1191	CCDS43872.1	9																																																																																			FBXW2	-	superfamily_WD40_repeat_dom	ENSG00000119402		0.522	FBXW2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW2	HGNC	protein_coding	OTTHUMT00000053834.2	87	0.00	0	C			123527011	123527011	-1	no_errors	ENST00000373926	ensembl	human	known	69_37n	silent	96	16.52	19	SNP	0.999	G
FCGBP	8857	genome.wustl.edu	37	19	40362869	40362869	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:40362869C>T	ENST00000221347.6	-	32	15208	c.15201G>A	c.(15199-15201)ctG>ctA	p.L5067L		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5067						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)			CAGAGGGACTCAGCACCGCCT	0.647																																						dbGAP											0													85.0	90.0	89.0					19																	40362869		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			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.15201G>A	19.37:g.40362869C>T		Somatic		WXS	Illumina GAIIx	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_EGF-like,smart_VWF_C,smart_VWC_out	p.L5067	ENST00000221347.6	37	c.15201	CCDS12546.1	19																																																																																			FCGBP	-	pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich	ENSG00000090920		0.647	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	13	0.00	0	C	NM_003890		40362869	40362869	-1	no_errors	ENST00000221347	ensembl	human	known	69_37n	silent	12	36.84	7	SNP	0.997	T
FCGR2A	2212	genome.wustl.edu	37	1	161476187	161476187	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:161476187C>G	ENST00000271450.6	+	3	208	c.170C>G	c.(169-171)tCt>tGt	p.S57C	FCGR2A_ENST00000367972.4_Missense_Mutation_p.S56C	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	57	Ig-like C2-type 1.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CAGGAGGACTCTGTGACTCTG	0.577																																						dbGAP											0													95.0	92.0	93.0					1																	161476187		2203	4300	6503	-	-	-	SO:0001583	missense	0			J03619	CCDS30922.1, CCDS44264.1	1q23	2013-01-11	2005-02-02		ENSG00000143226	ENSG00000143226		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3616	protein-coding gene	gene with protein product	"""Immunoglobulin G Fc receptor II"""	146790	"""Fc fragment of IgG, low affinity IIa, receptor for (CD32)"""	FCG2, FCGR2A1, FCGR2		2139735	Standard	NM_021642		Approved	CD32, CD32A, IGFR2, CDw32	uc001gan.3	P12318	OTTHUMG00000034469	ENST00000271450.6:c.170C>G	1.37:g.161476187C>G	ENSP00000271450:p.Ser57Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WUN1|Q8WW64	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S57C	ENST00000271450.6	37	c.170	CCDS44264.1	1	.	.	.	.	.	.	.	.	.	.	C	9.612	1.131526	0.21041	.	.	ENSG00000143226	ENST00000367972;ENST00000271450	T;T	0.11169	2.8;2.8	3.66	-7.32	0.01436	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	7.543680	0.00166	N	0.000000	T	0.03434	0.0099	M	0.80847	2.515	0.29213	N	0.874467	P;P	0.40360	0.714;0.632	B;B	0.36186	0.219;0.139	T	0.11012	-1.0605	9	0.54805	T	0.06	.	2.9127	0.05742	0.119:0.4263:0.1447:0.31	.	57;56	P12318;P12318-2	FCG2A_HUMAN;.	C	56;57	ENSP00000356949:S56C;ENSP00000271450:S57C	ENSP00000271450:S57C	S	+	2	0	FCGR2A	159742811	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-3.358000	0.00499	-4.540000	0.00043	-1.108000	0.02087	TCT	FCGR2A	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000143226		0.577	FCGR2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCGR2A	HGNC	protein_coding	OTTHUMT00000083318.3	97	0.00	0	C	NM_021642		161476187	161476187	+1	no_errors	ENST00000271450	ensembl	human	known	69_37n	missense	173	18.01	38	SNP	0.000	G
FCHO2	115548	genome.wustl.edu	37	5	72311486	72311486	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:72311486C>G	ENST00000430046.2	+	7	750	c.634C>G	c.(634-636)Cac>Gac	p.H212D	FCHO2_ENST00000512348.1_Intron|FCHO2_ENST00000287761.6_Missense_Mutation_p.H212D|FCHO2_ENST00000341845.6_Missense_Mutation_p.H212D	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	212	Mediates dimerization and binding to membranes enriched in Pi(4,5)-P2 and induces their tubulation.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|membrane invagination (GO:0010324)|protein localization to plasma membrane (GO:0072659)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		TCATCTCATTCACATAAAGGA	0.284																																						dbGAP											0													76.0	76.0	76.0					5																	72311486		1795	4057	5852	-	-	-	SO:0001583	missense	0			AL831971	CCDS47230.1, CCDS54868.1	5q13.2	2005-08-15			ENSG00000157107	ENSG00000157107			25180	protein-coding gene	gene with protein product		613438				15254787	Standard	NM_138782		Approved		uc003kcl.3	Q0JRZ9	OTTHUMG00000162413	ENST00000430046.2:c.634C>G	5.37:g.72311486C>G	ENSP00000393776:p.His212Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6W7|B2RNQ9|B4DHK0|E9PG79|Q0JTJ3|Q96CF5	Missense_Mutation	SNP	pfam_Muniscin_C-term_mu_dom,pfam_FCH,smart_FCH,pfscan_FCH	p.H212D	ENST00000430046.2	37	c.634	CCDS47230.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.0|26.0	4.692957|4.692957	0.88735|0.88735	.|.	.|.	ENSG00000157107|ENSG00000157107	ENST00000507345|ENST00000430046;ENST00000341845;ENST00000287761	.|T;T;T	.|0.42513	.|0.97;0.97;0.97	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	.|0.177155	.|0.51477	.|D	.|0.000085	T|T	0.49372|0.49372	0.1553|0.1553	L|L	0.57536|0.57536	1.79|1.79	0.54753|0.54753	D|D	0.999989|0.999989	.|P;B	.|0.42785	.|0.79;0.073	.|P;B	.|0.45167	.|0.472;0.055	T|T	0.42882|0.42882	-0.9425|-0.9425	5|10	.|0.40728	.|T	.|0.16	-9.1457|-9.1457	19.2851|19.2851	0.94067|0.94067	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|212;212	.|Q0JRZ9-2;Q0JRZ9	.|.;FCHO2_HUMAN	L|D	181|212	.|ENSP00000393776:H212D;ENSP00000344034:H212D;ENSP00000287761:H212D	.|ENSP00000287761:H212D	F|H	+|+	3|1	2|0	FCHO2|FCHO2	72347242|72347242	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	4.496000|4.496000	0.60360|0.60360	2.648000|2.648000	0.89879|0.89879	0.650000|0.650000	0.86243|0.86243	TTC|CAC	FCHO2	-	NULL	ENSG00000157107		0.284	FCHO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCHO2	HGNC	protein_coding	OTTHUMT00000368795.3	102	0.00	0	C	XM_291142		72311486	72311486	+1	no_errors	ENST00000341845	ensembl	human	known	69_37n	missense	70	26.32	25	SNP	1.000	G
FCHSD1	89848	genome.wustl.edu	37	5	141025748	141025748	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:141025748C>T	ENST00000435817.2	-	12	1105	c.1055G>A	c.(1054-1056)cGa>cAa	p.R352Q	FCHSD1_ENST00000522783.1_Intron|FCHSD1_ENST00000522126.1_Missense_Mutation_p.R276Q|FCHSD1_ENST00000523856.1_5'UTR	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	352									FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCTCCAGTCGTTGCAGTAC	0.562																																						dbGAP											0													33.0	31.0	32.0					5																	141025748		1995	4158	6153	-	-	-	SO:0001583	missense	0			AK027281	CCDS47295.1	5q31.3	2008-02-05			ENSG00000197948	ENSG00000197948			25463	protein-coding gene	gene with protein product						11214971, 15067381	Standard	NM_033449		Approved	FLJ00007	uc003llk.3	Q86WN1	OTTHUMG00000163762	ENST00000435817.2:c.1055G>A	5.37:g.141025748C>T	ENSP00000399259:p.Arg352Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UX75|Q86Y77|Q9NXX8	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_FCH,superfamily_SH3_domain,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain	p.R352Q	ENST00000435817.2	37	c.1055	CCDS47295.1	5	.	.	.	.	.	.	.	.	.	.	C	13.92	2.381160	0.42207	.	.	ENSG00000197948	ENST00000435817;ENST00000522126;ENST00000518499	T;T	0.43688	1.76;0.94	5.6	5.6	0.85130	.	0.137857	0.43919	D	0.000505	T	0.61438	0.2347	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	1.0;0.995	D;P	0.83275	0.996;0.772	T	0.52653	-0.8547	10	0.22109	T	0.4	-15.0612	19.194	0.93679	0.0:1.0:0.0:0.0	.	32;352	Q86WN1-2;Q86WN1	.;FCSD1_HUMAN	Q	352;276;35	ENSP00000399259:R352Q;ENSP00000427796:R276Q	ENSP00000399259:R352Q	R	-	2	0	FCHSD1	141005932	1.000000	0.71417	1.000000	0.80357	0.221000	0.24807	4.893000	0.63199	2.637000	0.89404	0.455000	0.32223	CGA	FCHSD1	-	NULL	ENSG00000197948		0.562	FCHSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCHSD1	HGNC	protein_coding	OTTHUMT00000375282.2	77	0.00	0	C	NM_033449		141025748	141025748	-1	no_errors	ENST00000435817	ensembl	human	known	69_37n	missense	46	48.31	43	SNP	1.000	T
FDPS	2224	genome.wustl.edu	37	1	155289696	155289696	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:155289696C>G	ENST00000356657.6	+	10	1198	c.1036C>G	c.(1036-1038)Cca>Gca	p.P346A	FDPS_ENST00000368356.4_Missense_Mutation_p.P346A|FDPS_ENST00000447866.1_Missense_Mutation_p.P280A|RUSC1-AS1_ENST00000543656.1_RNA|RUSC1_ENST00000368354.3_5'Flank|RUSC1_ENST00000368352.5_5'Flank|RUSC1-AS1_ENST00000446880.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	farnesyl diphosphate synthase	346					cholesterol biosynthetic process (GO:0006695)|farnesyl diphosphate biosynthetic process (GO:0045337)|geranyl diphosphate biosynthetic process (GO:0033384)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dimethylallyltranstransferase activity (GO:0004161)|geranyltranstransferase activity (GO:0004337)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	ACGGGCCACTCCAGAACAGTA	0.547																																						dbGAP											0													83.0	79.0	80.0					1																	155289696		2203	4300	6503	-	-	-	SO:0001583	missense	0			J05262	CCDS1110.1, CCDS44241.1, CCDS72940.1	1q22	2012-07-13	2010-06-24		ENSG00000160752	ENSG00000160752	2.5.1.1, 2.5.1.10		3631	protein-coding gene	gene with protein product	"""farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase"""	134629				1968462	Standard	NM_002004		Approved		uc001fkc.2	P14324	OTTHUMG00000013909	ENST00000356657.6:c.1036C>G	1.37:g.155289696C>G	ENSP00000349078:p.Pro346Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DV91|E9PCI9|Q96G29	Missense_Mutation	SNP	pfam_Polyprenyl_synt,superfamily_Terpenoid_synth	p.P346A	ENST00000356657.6	37	c.1036	CCDS1110.1	1	.	.	.	.	.	.	.	.	.	.	C	13.61	2.289900	0.40494	.	.	ENSG00000160752	ENST00000447866;ENST00000368356;ENST00000356657	T;T;T	0.64438	-0.1;-0.1;-0.1	4.28	4.28	0.50868	Terpenoid synthase (2);	0.172150	0.28146	N	0.016429	T	0.43010	0.1228	L	0.51914	1.62	0.58432	D	0.999998	B	0.02656	0.0	B	0.06405	0.002	T	0.38499	-0.9658	10	0.35671	T	0.21	-5.1025	14.6536	0.68817	0.0:1.0:0.0:0.0	.	346	P14324	FPPS_HUMAN	A	280;346;346	ENSP00000391755:P280A;ENSP00000357340:P346A;ENSP00000349078:P346A	ENSP00000349078:P346A	P	+	1	0	FDPS	153556320	0.997000	0.39634	0.847000	0.33407	0.617000	0.37484	5.190000	0.65104	2.673000	0.90976	0.561000	0.74099	CCA	FDPS	-	pfam_Polyprenyl_synt,superfamily_Terpenoid_synth	ENSG00000160752		0.547	FDPS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FDPS	HGNC	protein_coding	OTTHUMT00000039053.1	66	0.00	0	C	NM_002004		155289696	155289696	+1	no_errors	ENST00000356657	ensembl	human	known	69_37n	missense	91	18.02	20	SNP	1.000	G
FDPS	2224	genome.wustl.edu	37	1	155290322	155290322	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:155290322C>G	ENST00000356657.6	+	11	1344	c.1182C>G	c.(1180-1182)ctC>ctG	p.L394L	FDPS_ENST00000368356.4_Silent_p.L394L|FDPS_ENST00000447866.1_Silent_p.L328L|RUSC1-AS1_ENST00000543656.1_RNA|RUSC1_ENST00000368354.3_5'Flank|RUSC1_ENST00000368352.5_5'Flank|RUSC1-AS1_ENST00000446880.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	farnesyl diphosphate synthase	394					cholesterol biosynthetic process (GO:0006695)|farnesyl diphosphate biosynthetic process (GO:0045337)|geranyl diphosphate biosynthetic process (GO:0033384)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dimethylallyltranstransferase activity (GO:0004161)|geranyltranstransferase activity (GO:0004337)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	TTATGGCTCTCATTGAACAGT	0.547																																						dbGAP											0													60.0	56.0	57.0					1																	155290322		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			J05262	CCDS1110.1, CCDS44241.1, CCDS72940.1	1q22	2012-07-13	2010-06-24		ENSG00000160752	ENSG00000160752	2.5.1.1, 2.5.1.10		3631	protein-coding gene	gene with protein product	"""farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase"""	134629				1968462	Standard	NM_002004		Approved		uc001fkc.2	P14324	OTTHUMG00000013909	ENST00000356657.6:c.1182C>G	1.37:g.155290322C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DV91|E9PCI9|Q96G29	Silent	SNP	pfam_Polyprenyl_synt,superfamily_Terpenoid_synth	p.L394	ENST00000356657.6	37	c.1182	CCDS1110.1	1																																																																																			FDPS	-	superfamily_Terpenoid_synth	ENSG00000160752		0.547	FDPS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FDPS	HGNC	protein_coding	OTTHUMT00000039053.1	45	0.00	0	C	NM_002004		155290322	155290322	+1	no_errors	ENST00000356657	ensembl	human	known	69_37n	silent	77	15.38	14	SNP	0.994	G
FCRL5	83416	genome.wustl.edu	37	1	157494120	157494120	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:157494120C>A	ENST00000361835.3	-	10	2345	c.2188G>T	c.(2188-2190)Gac>Tac	p.D730Y	FCRL5_ENST00000368191.3_Missense_Mutation_p.D645Y|FCRL5_ENST00000356953.4_Missense_Mutation_p.D730Y|FCRL5_ENST00000461387.1_5'Flank|FCRL5_ENST00000368190.3_Missense_Mutation_p.D730Y	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	730	Ig-like C2-type 7.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				AGACCATTGTCTGCCTCACAG	0.562																																						dbGAP											0													59.0	64.0	62.0					1																	157494120		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.2188G>T	1.37:g.157494120C>A	ENSP00000354691:p.Asp730Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.D730Y	ENST00000361835.3	37	c.2188	CCDS1165.1	1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.784710	0.49997	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191	T;T;T;T	0.03035	4.07;4.07;4.07;4.07	4.83	-4.9	0.03094	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.11537	0.0281	H	0.94582	3.555	0.09310	N	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.987;0.997;0.996;0.996	T	0.00231	-1.1896	9	0.66056	D	0.02	.	12.0228	0.53352	0.0:0.3238:0.0:0.6762	.	645;730;730;730	F5GXJ2;Q96RD9-3;A6NJE8;Q96RD9	.;.;.;FCRL5_HUMAN	Y	730;730;730;645	ENSP00000354691:D730Y;ENSP00000349434:D730Y;ENSP00000357173:D730Y;ENSP00000357174:D645Y	ENSP00000349434:D730Y	D	-	1	0	FCRL5	155760744	0.000000	0.05858	0.000000	0.03702	0.119000	0.20118	-0.862000	0.04263	-1.184000	0.02720	-0.142000	0.14014	GAC	FCRL5	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000143297		0.562	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCRL5	HGNC	protein_coding	OTTHUMT00000046263.1	62	0.00	0	C	NM_031281		157494120	157494120	-1	no_errors	ENST00000356953	ensembl	human	known	69_37n	missense	61	20.78	16	SNP	0.000	A
FCRL4	83417	genome.wustl.edu	37	1	157556084	157556084	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:157556084G>A	ENST00000271532.1	-	6	1144	c.1009C>T	c.(1009-1011)Cag>Tag	p.Q337*	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	337	Ig-like C2-type 4.				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)				AGGGAACGCTGAGTTTTCCTC	0.587																																						dbGAP											0													104.0	91.0	95.0					1																	157556084		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			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.1009C>T	1.37:g.157556084G>A	ENSP00000271532:p.Gln337*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96PJ3|Q96RE0	Nonsense_Mutation	SNP	pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.Q337*	ENST00000271532.1	37	c.1009	CCDS1166.1	1	.	.	.	.	.	.	.	.	.	.	G	19.26	3.792813	0.70452	.	.	ENSG00000163518	ENST00000271532	.	.	.	4.23	2.27	0.28462	.	0.845051	0.09673	N	0.770866	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	5.4855	0.16747	0.1116:0.2052:0.6832:0.0	.	.	.	.	X	337	.	ENSP00000271532:Q337X	Q	-	1	0	FCRL4	155822708	0.000000	0.05858	0.164000	0.22755	0.210000	0.24377	0.380000	0.20602	0.476000	0.27440	0.467000	0.42956	CAG	FCRL4	-	pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000163518		0.587	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCRL4	HGNC	protein_coding	OTTHUMT00000086180.1	56	0.00	0	G	NM_031282		157556084	157556084	-1	no_errors	ENST00000271532	ensembl	human	known	69_37n	nonsense	50	12.28	7	SNP	0.032	A
FCRL4	83417	genome.wustl.edu	37	1	157557155	157557155	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:157557155C>T	ENST00000271532.1	-	5	893	c.758G>A	c.(757-759)aGa>aAa	p.R253K	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	253	Ig-like C2-type 3.				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)				TGAGTTTTCTCTCCAGACGGT	0.542																																						dbGAP											0													269.0	271.0	270.0					1																	157557155		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.758G>A	1.37:g.157557155C>T	ENSP00000271532:p.Arg253Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96PJ3|Q96RE0	Missense_Mutation	SNP	pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.R253K	ENST00000271532.1	37	c.758	CCDS1166.1	1	.	.	.	.	.	.	.	.	.	.	C	0.292	-0.979681	0.02197	.	.	ENSG00000163518	ENST00000271532	T	0.12039	2.72	4.71	-1.96	0.07525	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.175811	0.27927	N	0.017292	T	0.01387	0.0045	L	0.28608	0.87	0.20563	N	0.999887	B	0.02656	0.0	B	0.11329	0.006	T	0.43180	-0.9407	10	0.06236	T	0.91	.	0.8469	0.01163	0.1613:0.2886:0.1586:0.3915	.	253	Q96PJ5	FCRL4_HUMAN	K	253	ENSP00000271532:R253K	ENSP00000271532:R253K	R	-	2	0	FCRL4	155823779	0.001000	0.12720	0.461000	0.27105	0.256000	0.26092	-0.759000	0.04761	-0.183000	0.10585	-0.444000	0.05651	AGA	FCRL4	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000163518		0.542	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCRL4	HGNC	protein_coding	OTTHUMT00000086180.1	57	0.00	0	C	NM_031282		157557155	157557155	-1	no_errors	ENST00000271532	ensembl	human	known	69_37n	missense	71	19.32	17	SNP	0.582	T
FCRL3	115352	genome.wustl.edu	37	1	157666098	157666098	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:157666098C>T	ENST00000368184.3	-	7	1155	c.864G>A	c.(862-864)gtG>gtA	p.V288V	RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000368186.5_Silent_p.V288V|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	288	Ig-like C2-type 4.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					TCTCTAGATTCACATTAGACA	0.522																																						dbGAP											0													77.0	74.0	75.0					1																	157666098		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.864G>A	1.37:g.157666098C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Silent	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.V288	ENST00000368184.3	37	c.864	CCDS1167.1	1																																																																																			FCRL3	-	pfscan_Ig-like	ENSG00000160856		0.522	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	FCRL3	HGNC	protein_coding	OTTHUMT00000051419.2	44	0.00	0	C	NM_052939		157666098	157666098	-1	no_errors	ENST00000368186	ensembl	human	known	69_37n	silent	28	31.71	13	SNP	0.086	T
FCRL2	79368	genome.wustl.edu	37	1	157737211	157737211	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:157737211C>G	ENST00000361516.3	-	6	1020	c.972G>C	c.(970-972)ctG>ctC	p.L324L	FCRL2_ENST00000368181.4_Intron|FCRL2_ENST00000392274.3_Silent_p.L324L|FCRL2_ENST00000469986.1_Silent_p.L71L	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	324	Ig-like C2-type 4.				cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GAGAGCCTCTCAGGGCCTCAC	0.597																																						dbGAP											0													57.0	61.0	60.0					1																	157737211		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF319438	CCDS1168.1	1q23.1	2013-01-14	2002-01-14	2005-03-23	ENSG00000132704	ENSG00000132704		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14875	protein-coding gene	gene with protein product		606509	"""SH2 domain-containing phosphatase anchor protein 1"""	SPAP1		11162587	Standard	NM_030764		Approved	FCRH2, IRTA4, CD307b	uc001fre.2	Q96LA5	OTTHUMG00000019399	ENST00000361516.3:c.972G>C	1.37:g.157737211C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A0N0M5|A1L307|A6NMS0|Q6NTA1|Q9BZI4|Q9BZI5|Q9BZI6	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L324	ENST00000361516.3	37	c.972	CCDS1168.1	1																																																																																			FCRL2	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000132704		0.597	FCRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCRL2	HGNC	protein_coding	OTTHUMT00000051408.2	38	0.00	0	C	NM_030764		157737211	157737211	-1	no_errors	ENST00000361516	ensembl	human	known	69_37n	silent	41	14.58	7	SNP	0.009	G
FERMT1	55612	genome.wustl.edu	37	20	6093209	6093209	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:6093209C>G	ENST00000217289.4	-	4	1235	c.447G>C	c.(445-447)aaG>aaC	p.K149N	FERMT1_ENST00000536936.1_5'UTR	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	149	FERM.|Poly-Lys.				cell adhesion (GO:0007155)|establishment of epithelial cell polarity (GO:0090162)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						CTTTTTTCTTCTTCTTCTTAA	0.303																																						dbGAP											0													90.0	95.0	93.0					20																	6093209		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000123	CCDS13098.1	20p12.3	2013-01-10	2010-06-24	2007-12-14	ENSG00000101311	ENSG00000101311		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	15889	protein-coding gene	gene with protein product	"""kindlin-1"", ""kinderlin"""	607900	"""chromosome 20 open reading frame 42"", ""fermitin family homolog 1 (Drosophila)"""	C20orf42		12697302, 12789646	Standard	NM_017671		Approved	FLJ20116, URP1, KIND1, UNC112A	uc002wmr.3	Q9BQL6	OTTHUMG00000031826	ENST00000217289.4:c.447G>C	20.37:g.6093209C>G	ENSP00000217289:p.Lys149Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DW10|Q8IX34|Q8IYH2|Q9NWM2|Q9NXQ3	Missense_Mutation	SNP	pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.K149N	ENST00000217289.4	37	c.447	CCDS13098.1	20	.	.	.	.	.	.	.	.	.	.	C	17.04	3.287687	0.59976	.	.	ENSG00000101311	ENST00000217289;ENST00000339538	T	0.76839	-1.05	5.77	-1.33	0.09172	FERM, N-terminal (1);Band 4.1 domain (1);	0.000000	0.85682	D	0.000000	D	0.84566	0.5500	M	0.80422	2.495	0.80722	D	1	P;D	0.76494	0.86;0.999	B;D	0.74348	0.43;0.983	T	0.81980	-0.0684	10	0.30854	T	0.27	-16.2475	11.568	0.50818	0.0:0.3177:0.0:0.6823	.	149;149	Q9BQL6-4;Q9BQL6	.;FERM1_HUMAN	N	149	ENSP00000217289:K149N	ENSP00000217289:K149N	K	-	3	2	FERMT1	6041209	0.996000	0.38824	0.994000	0.49952	0.998000	0.95712	0.258000	0.18387	-0.012000	0.14223	0.655000	0.94253	AAG	FERMT1	-	pfam_FERM_N,smart_Band_41_domain	ENSG00000101311		0.303	FERMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FERMT1	HGNC	protein_coding	OTTHUMT00000077908.2	122	0.00	0	C	NM_017671		6093209	6093209	-1	no_errors	ENST00000217289	ensembl	human	known	69_37n	missense	121	21.43	33	SNP	0.996	G
FEV	54738	genome.wustl.edu	37	2	219846886	219846886	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:219846886C>G	ENST00000295727.1	-	3	801	c.220G>C	c.(220-222)Gag>Cag	p.E74Q	LINC00608_ENST00000432733.1_lincRNA	NM_017521.2	NP_059991.1	Q99581	FEV_HUMAN	FEV (ETS oncogene family)	74					cell differentiation (GO:0030154)|neuron fate specification (GO:0048665)|neuron maturation (GO:0042551)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)		EWSR1/FEV(11)|FUS/FEV(2)	large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCTTGAACTCGCCGTGACCG	0.682			T	"""EWSR1,  FUS"""	Ewing sarcoma																																NSCLC(198;941 2228 4658 24163 34665)	dbGAP		Dom	yes		2	2q36	54738	FEV protein - (HSRNAFEV)		M	0													41.0	34.0	36.0					2																	219846886		2202	4298	6500	-	-	-	SO:0001583	missense	0				CCDS2428.1	2q36	2008-02-05			ENSG00000163497	ENSG00000163497			18562	protein-coding gene	gene with protein product		607150	"""FEV (fifth Ewing variant)"""			9121764	Standard	NM_017521		Approved	Pet-1	uc002vji.1	Q99581	OTTHUMG00000133080	ENST00000295727.1:c.220G>C	2.37:g.219846886C>G	ENSP00000295727:p.Glu74Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.E74Q	ENST00000295727.1	37	c.220	CCDS2428.1	2	.	.	.	.	.	.	.	.	.	.	C	25.4	4.630942	0.87660	.	.	ENSG00000163497	ENST00000295727	T	0.58797	0.31	3.11	3.11	0.35812	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.000000	0.64402	U	0.000001	T	0.75125	0.3807	M	0.81942	2.565	0.58432	D	0.999994	D	0.89917	1.0	D	0.87578	0.998	T	0.79838	-0.1634	10	0.87932	D	0	.	13.0951	0.59187	0.0:1.0:0.0:0.0	.	74	Q99581	FEV_HUMAN	Q	74	ENSP00000295727:E74Q	ENSP00000295727:E74Q	E	-	1	0	FEV	219555130	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.351000	0.79395	1.572000	0.49736	0.462000	0.41574	GAG	FEV	-	pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	ENSG00000163497		0.682	FEV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEV	HGNC	protein_coding	OTTHUMT00000256725.1	37	0.00	0	C			219846886	219846886	-1	no_errors	ENST00000295727	ensembl	human	known	69_37n	missense	21	32.26	10	SNP	1.000	G
FEZ1	9638	genome.wustl.edu	37	11	125333431	125333431	+	Missense_Mutation	SNP	C	C	G	rs150934370		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:125333431C>G	ENST00000278919.3	-	4	681	c.447G>C	c.(445-447)aaG>aaC	p.K149N	FEZ1_ENST00000527350.1_Intron	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)	149					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|establishment of mitochondrion localization (GO:0051654)|nervous system development (GO:0007399)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|transport (GO:0006810)	axon (GO:0030424)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		CATTTTCACTCTTCTCATTGA	0.473																																					Melanoma(180;509 2033 10762 15939 24711)	dbGAP											0													178.0	160.0	166.0					11																	125333431		2201	4299	6500	-	-	-	SO:0001583	missense	0			U60060	CCDS31716.1, CCDS44758.1	11q24.2	2005-09-29			ENSG00000149557	ENSG00000149557			3659	protein-coding gene	gene with protein product		604825				9096408, 15843383	Standard	NM_005103		Approved		uc001qbx.3	Q99689	OTTHUMG00000165886	ENST00000278919.3:c.447G>C	11.37:g.125333431C>G	ENSP00000278919:p.Lys149Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O00679|O00728|Q6IBI7	Missense_Mutation	SNP	pfam_FEZ	p.K149N	ENST00000278919.3	37	c.447	CCDS31716.1	11	.	.	.	.	.	.	.	.	.	.	C	19.66	3.869408	0.72065	.	.	ENSG00000149557	ENST00000278919	T	0.32272	1.46	4.9	4.9	0.64082	.	0.048575	0.85682	D	0.000000	T	0.43853	0.1266	L	0.57536	1.79	0.80722	D	1	D	0.63046	0.992	P	0.58172	0.834	T	0.33929	-0.9849	10	0.52906	T	0.07	-14.2165	10.5092	0.44851	0.0:0.9085:0.0:0.0915	.	149	Q99689	FEZ1_HUMAN	N	149	ENSP00000278919:K149N	ENSP00000278919:K149N	K	-	3	2	FEZ1	124838641	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.372000	0.34261	2.254000	0.74563	0.561000	0.74099	AAG	FEZ1	-	pfam_FEZ	ENSG00000149557		0.473	FEZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEZ1	HGNC	protein_coding	OTTHUMT00000386875.1	139	0.00	0	C	NM_005103		125333431	125333431	-1	no_errors	ENST00000278919	ensembl	human	known	69_37n	missense	101	23.48	31	SNP	1.000	G
FEZF2	55079	genome.wustl.edu	37	3	62355759	62355759	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:62355759C>T	ENST00000283268.3	-	5	1673	c.1379G>A	c.(1378-1380)tGa>tAa	p.*460*	PTPRG-AS1_ENST00000495542.1_RNA|FEZF2_ENST00000475839.1_Silent_p.*460*|PTPRG-AS1_ENST00000490916.1_RNA|FEZF2_ENST00000486811.1_Silent_p.*460*	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	0					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cerebral cortex GABAergic interneuron migration (GO:0021853)|dendrite development (GO:0016358)|dentate gyrus development (GO:0021542)|forebrain anterior/posterior pattern specification (GO:0021797)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		CAGTAGCTCTCAGCTCTGCAC	0.458																																					NSCLC(170;1772 2053 12525 15604 23984)	dbGAP											0													64.0	58.0	60.0					3																	62355759		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF064845	CCDS2897.1	3p21.1	2013-01-08	2006-08-15	2006-08-15	ENSG00000153266	ENSG00000153266		"""Zinc fingers, C2H2-type"""	13506	protein-coding gene	gene with protein product		607414	"""zinc finger protein 312"""	ZNF312			Standard	NM_018008		Approved	FLJ10142, FKSG36, TOF, FEZL, Zfp312	uc003dli.2	Q8TBJ5	OTTHUMG00000158705	ENST00000283268.3:c.1379G>A	3.37:g.62355759C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K349|Q9BZ91|Q9NWB9	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.*460	ENST00000283268.3	37	c.1379	CCDS2897.1	3																																																																																			FEZF2	-	NULL	ENSG00000153266		0.458	FEZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEZF2	HGNC	protein_coding	OTTHUMT00000351813.1	51	0.00	0	C	NM_018008		62355759	62355759	-1	no_errors	ENST00000283268	ensembl	human	known	69_37n	silent	56	36.36	32	SNP	1.000	T
FEZF2	55079	genome.wustl.edu	37	3	62355847	62355847	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:62355847C>G	ENST00000283268.3	-	5	1585	c.1291G>C	c.(1291-1293)Gac>Cac	p.D431H	PTPRG-AS1_ENST00000495542.1_RNA|FEZF2_ENST00000475839.1_Missense_Mutation_p.D431H|PTPRG-AS1_ENST00000490916.1_RNA|FEZF2_ENST00000486811.1_Missense_Mutation_p.D431H	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	431					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cerebral cortex GABAergic interneuron migration (GO:0021853)|dendrite development (GO:0016358)|dentate gyrus development (GO:0021542)|forebrain anterior/posterior pattern specification (GO:0021797)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		TTCTTTAAGTCAAAGTTTCTG	0.542																																					NSCLC(170;1772 2053 12525 15604 23984)	dbGAP											0													191.0	172.0	179.0					3																	62355847		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF064845	CCDS2897.1	3p21.1	2013-01-08	2006-08-15	2006-08-15	ENSG00000153266	ENSG00000153266		"""Zinc fingers, C2H2-type"""	13506	protein-coding gene	gene with protein product		607414	"""zinc finger protein 312"""	ZNF312			Standard	NM_018008		Approved	FLJ10142, FKSG36, TOF, FEZL, Zfp312	uc003dli.2	Q8TBJ5	OTTHUMG00000158705	ENST00000283268.3:c.1291G>C	3.37:g.62355847C>G	ENSP00000283268:p.Asp431His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K349|Q9BZ91|Q9NWB9	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D431H	ENST00000283268.3	37	c.1291	CCDS2897.1	3	.	.	.	.	.	.	.	.	.	.	C	22.5	4.303062	0.81136	.	.	ENSG00000153266	ENST00000486811;ENST00000283268;ENST00000475839	T;T;T	0.07800	3.16;3.16;3.16	5.86	5.86	0.93980	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.16257	0.0391	N	0.12443	0.215	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.26950	-1.0088	10	0.33940	T	0.23	-35.0443	20.1772	0.98182	0.0:1.0:0.0:0.0	.	431	Q8TBJ5	FEZF2_HUMAN	H	431	ENSP00000418589:D431H;ENSP00000283268:D431H;ENSP00000418804:D431H	ENSP00000283268:D431H	D	-	1	0	FEZF2	62330887	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.778000	0.95560	0.655000	0.94253	GAC	FEZF2	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000153266		0.542	FEZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEZF2	HGNC	protein_coding	OTTHUMT00000351813.1	115	0.00	0	C	NM_018008		62355847	62355847	-1	no_errors	ENST00000283268	ensembl	human	known	69_37n	missense	122	31.07	55	SNP	1.000	G
FGD5	152273	genome.wustl.edu	37	3	14861604	14861604	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:14861604C>T	ENST00000285046.5	+	1	1136	c.1026C>T	c.(1024-1026)ctC>ctT	p.L342L	FGD5_ENST00000543601.1_Silent_p.L101L	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	342					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TGACTTCCCTCACAGGAAGCC	0.532																																						dbGAP											0													72.0	75.0	74.0					3																	14861604		1945	4164	6109	-	-	-	SO:0001819	synonymous_variant	0			AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.1026C>T	3.37:g.14861604C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.L342	ENST00000285046.5	37	c.1026	CCDS46767.1	3																																																																																			FGD5	-	NULL	ENSG00000154783		0.532	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD5	HGNC	protein_coding	OTTHUMT00000340628.1	68	0.00	0	C	NM_152536		14861604	14861604	+1	no_errors	ENST00000285046	ensembl	human	known	69_37n	silent	69	26.60	25	SNP	0.000	T
FGD5	152273	genome.wustl.edu	37	3	14861645	14861645	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:14861645C>G	ENST00000285046.5	+	1	1177	c.1067C>G	c.(1066-1068)tCt>tGt	p.S356C	FGD5_ENST00000543601.1_Missense_Mutation_p.S115C	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	356					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GAGAGCACCTCTTTTTGCAGC	0.527																																						dbGAP											0													66.0	66.0	66.0					3																	14861645		1906	4143	6049	-	-	-	SO:0001583	missense	0			AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.1067C>G	3.37:g.14861645C>G	ENSP00000285046:p.Ser356Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.S356C	ENST00000285046.5	37	c.1067	CCDS46767.1	3	.	.	.	.	.	.	.	.	.	.	C	14.45	2.540103	0.45176	.	.	ENSG00000154783	ENST00000285046;ENST00000543601	T;T	0.80994	-1.44;-1.25	5.34	5.34	0.76211	.	0.000000	0.49916	D	0.000130	D	0.85478	0.5706	L	0.34521	1.04	0.33586	D	0.600476	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.986	D	0.89384	0.3684	10	0.87932	D	0	-19.8535	18.6828	0.91553	0.0:1.0:0.0:0.0	.	115;356	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	C	356;115	ENSP00000285046:S356C;ENSP00000445949:S115C	ENSP00000285046:S356C	S	+	2	0	FGD5	14836649	.	.	0.978000	0.43139	0.100000	0.18952	.	.	2.492000	0.84095	0.655000	0.94253	TCT	FGD5	-	NULL	ENSG00000154783		0.527	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD5	HGNC	protein_coding	OTTHUMT00000340628.1	49	0.00	0	C	NM_152536		14861645	14861645	+1	no_errors	ENST00000285046	ensembl	human	known	69_37n	missense	61	19.74	15	SNP	0.998	G
FEZF2	55079	genome.wustl.edu	37	3	62357788	62357788	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:62357788C>G	ENST00000283268.3	-	2	1050	c.756G>C	c.(754-756)ctG>ctC	p.L252L	PTPRG-AS1_ENST00000495542.1_RNA|FEZF2_ENST00000475839.1_Silent_p.L252L|PTPRG-AS1_ENST00000490916.1_RNA|FEZF2_ENST00000486811.1_Silent_p.L252L	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	252					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cerebral cortex GABAergic interneuron migration (GO:0021853)|dendrite development (GO:0016358)|dentate gyrus development (GO:0021542)|forebrain anterior/posterior pattern specification (GO:0021797)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		GCTCGGCAGTCAGGGCCGAGT	0.657																																					NSCLC(170;1772 2053 12525 15604 23984)	dbGAP											0													16.0	16.0	16.0					3																	62357788		2200	4293	6493	-	-	-	SO:0001819	synonymous_variant	0			AF064845	CCDS2897.1	3p21.1	2013-01-08	2006-08-15	2006-08-15	ENSG00000153266	ENSG00000153266		"""Zinc fingers, C2H2-type"""	13506	protein-coding gene	gene with protein product		607414	"""zinc finger protein 312"""	ZNF312			Standard	NM_018008		Approved	FLJ10142, FKSG36, TOF, FEZL, Zfp312	uc003dli.2	Q8TBJ5	OTTHUMG00000158705	ENST00000283268.3:c.756G>C	3.37:g.62357788C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K349|Q9BZ91|Q9NWB9	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L252	ENST00000283268.3	37	c.756	CCDS2897.1	3																																																																																			FEZF2	-	NULL	ENSG00000153266		0.657	FEZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEZF2	HGNC	protein_coding	OTTHUMT00000351813.1	18	0.00	0	C	NM_018008		62357788	62357788	-1	no_errors	ENST00000283268	ensembl	human	known	69_37n	silent	13	40.91	9	SNP	1.000	G
FGD6	55785	genome.wustl.edu	37	12	95531432	95531432	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:95531432C>T	ENST00000343958.4	-	7	3083	c.2860G>A	c.(2860-2862)Gat>Aat	p.D954N	FGD6_ENST00000546711.1_Missense_Mutation_p.D954N|FGD6_ENST00000549499.1_Missense_Mutation_p.D954N	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	954	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						ACAAAGATATCAGCAATTCTT	0.328																																						dbGAP											0													73.0	68.0	70.0					12																	95531432		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.2860G>A	12.37:g.95531432C>T	ENSP00000344446:p.Asp954Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.D954N	ENST00000343958.4	37	c.2860	CCDS31878.1	12	.	.	.	.	.	.	.	.	.	.	C	28.8	4.950015	0.92660	.	.	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000549499	T;T;T	0.36520	1.25;1.25;1.25	5.06	5.06	0.68205	Dbl homology (DH) domain (5);	0.000000	0.46758	D	0.000269	T	0.64494	0.2603	M	0.82132	2.575	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.69468	-0.5137	10	0.72032	D	0.01	-23.4316	18.7843	0.91947	0.0:1.0:0.0:0.0	.	954	Q6ZV73	FGD6_HUMAN	N	954	ENSP00000344446:D954N;ENSP00000450342:D954N;ENSP00000449005:D954N	ENSP00000344446:D954N	D	-	1	0	FGD6	94055563	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.391000	0.79828	2.503000	0.84419	0.561000	0.74099	GAT	FGD6	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000180263		0.328	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD6	HGNC	protein_coding	OTTHUMT00000407600.1	89	0.00	0	C	NM_018351		95531432	95531432	-1	no_errors	ENST00000343958	ensembl	human	known	69_37n	missense	87	13.00	13	SNP	1.000	T
FGD6	55785	genome.wustl.edu	37	12	95604117	95604117	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:95604117G>C	ENST00000343958.4	-	2	1166	c.943C>G	c.(943-945)Ccc>Gcc	p.P315A	FGD6_ENST00000546711.1_Missense_Mutation_p.P315A|FGD6_ENST00000550368.1_5'Flank|FGD6_ENST00000549499.1_Missense_Mutation_p.P315A	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	315					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						CTGGGCTTGGGAGTTGGAAAT	0.413																																						dbGAP											0													101.0	105.0	104.0					12																	95604117		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.943C>G	12.37:g.95604117G>C	ENSP00000344446:p.Pro315Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.P315A	ENST00000343958.4	37	c.943	CCDS31878.1	12	.	.	.	.	.	.	.	.	.	.	G	18.62	3.663369	0.67700	.	.	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000549499	D;D;D	0.83755	-1.56;-1.68;-1.76	5.51	5.51	0.81932	.	0.000000	0.44902	D	0.000420	D	0.90724	0.7089	M	0.66939	2.045	0.50632	D	0.999885	D	0.89917	1.0	D	0.83275	0.996	D	0.91270	0.5043	10	0.87932	D	0	-12.3055	19.4241	0.94734	0.0:0.0:1.0:0.0	.	315	Q6ZV73	FGD6_HUMAN	A	315	ENSP00000344446:P315A;ENSP00000450342:P315A;ENSP00000449005:P315A	ENSP00000344446:P315A	P	-	1	0	FGD6	94128248	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.744000	0.74854	2.578000	0.87016	0.561000	0.74099	CCC	FGD6	-	NULL	ENSG00000180263		0.413	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD6	HGNC	protein_coding	OTTHUMT00000407600.1	57	0.00	0	G	NM_018351		95604117	95604117	-1	no_errors	ENST00000343958	ensembl	human	known	69_37n	missense	47	29.85	20	SNP	1.000	C
FGF11	2256	genome.wustl.edu	37	17	7344851	7344851	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:7344851G>A	ENST00000293829.4	+	2	849	c.255G>A	c.(253-255)gcG>gcA	p.A85A	RP11-104H15.8_ENST00000576615.1_RNA|FGF11_ENST00000575235.1_5'UTR|RP11-104H15.7_ENST00000575310.1_RNA|FGF11_ENST00000575398.1_5'UTR|FGF11_ENST00000572907.1_5'UTR|RP11-104H15.10_ENST00000575331.1_RNA|FGF11_ENST00000575082.1_5'UTR	NM_004112.2	NP_004103.1	Q92914	FGF11_HUMAN	fibroblast growth factor 11	85					cell-cell signaling (GO:0007267)|nervous system development (GO:0007399)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	growth factor activity (GO:0008083)			central_nervous_system(1)|large_intestine(3)|ovary(1)|prostate(1)	6		Prostate(122;0.157)				ACCTCCAGGCGAATCCCGACG	0.567																																						dbGAP											0													72.0	71.0	71.0					17																	7344851		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS11105.1	17p13.1	2008-07-18			ENSG00000161958	ENSG00000161958			3667	protein-coding gene	gene with protein product	"""fibroblast growth factor homologous factor 3"""	601514				8790420	Standard	NM_004112		Approved	FHF3, FLJ16061, MGC45269, MGC102953	uc002ggz.3	Q92914	OTTHUMG00000108136	ENST00000293829.4:c.255G>A	17.37:g.7344851G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2YDX8	Silent	SNP	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF	p.A85	ENST00000293829.4	37	c.255	CCDS11105.1	17																																																																																			FGF11	-	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd	ENSG00000161958		0.567	FGF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF11	HGNC	protein_coding	OTTHUMT00000226939.3	74	0.00	0	G	NM_004112		7344851	7344851	+1	no_errors	ENST00000293829	ensembl	human	known	69_37n	silent	44	25.42	15	SNP	0.982	A
FGF18	8817	genome.wustl.edu	37	5	170883686	170883686	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:170883686G>A	ENST00000274625.5	+	5	1045	c.501G>A	c.(499-501)gaG>gaA	p.E167E		NM_003862.2	NP_003853.1	O76093	FGF18_HUMAN	fibroblast growth factor 18	167					anatomical structure morphogenesis (GO:0009653)|angiogenesis (GO:0001525)|cell-cell signaling (GO:0007267)|chondrocyte development (GO:0002063)|endochondral ossification (GO:0001958)|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)|insulin receptor signaling pathway (GO:0008286)|intramembranous ossification (GO:0001957)|lung development (GO:0030324)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleolus (GO:0005730)	growth factor activity (GO:0008083)|type 1 fibroblast growth factor receptor binding (GO:0005105)|type 2 fibroblast growth factor receptor binding (GO:0005111)			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	9	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGACCCGGGAGAACCAGCAGG	0.617																																						dbGAP											0													61.0	71.0	68.0					5																	170883686		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB007422	CCDS4378.1	5q34	2008-02-05			ENSG00000156427	ENSG00000156427			3674	protein-coding gene	gene with protein product		603726				9660775, 9742123	Standard	NM_003862		Approved	FGF-18, ZFGF5	uc003mbk.3	O76093	OTTHUMG00000130464	ENST00000274625.5:c.501G>A	5.37:g.170883686G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DQL7|Q6UWF1	Silent	SNP	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_IL1_HBGF	p.E167	ENST00000274625.5	37	c.501	CCDS4378.1	5																																																																																			FGF18	-	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF	ENSG00000156427		0.617	FGF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF18	HGNC	protein_coding	OTTHUMT00000252857.2	33	0.00	0	G	NM_033649, NM_003862		170883686	170883686	+1	no_errors	ENST00000274625	ensembl	human	known	69_37n	silent	18	33.33	9	SNP	1.000	A
FGF7	2252	genome.wustl.edu	37	15	49776613	49776613	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:49776613C>T	ENST00000267843.4	+	4	1108	c.497C>T	c.(496-498)gCc>gTc	p.A166V	FAM227B_ENST00000561064.1_Intron|FAM227B_ENST00000299338.6_Intron|FGF7_ENST00000560704.1_3'UTR	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN	fibroblast growth factor 7	166					actin cytoskeleton reorganization (GO:0031532)|branching involved in salivary gland morphogenesis (GO:0060445)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle morphogenesis (GO:0031069)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mesenchymal cell proliferation (GO:0010463)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein localization to cell surface (GO:0034394)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|response to wounding (GO:0009611)|secretion by lung epithelial cell involved in lung growth (GO:0061033)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)		ATGTTTGTTGCCTTAAATCAA	0.358																																						dbGAP											0													36.0	36.0	36.0					15																	49776613		2027	3858	5885	-	-	-	SO:0001583	missense	0			M60828	CCDS10131.1	15q21.2	2014-01-30	2010-08-18		ENSG00000140285	ENSG00000140285		"""Endogenous ligands"""	3685	protein-coding gene	gene with protein product	"""keratinocyte growth factor"""	148180	"""fibroblast growth factor 7 (keratinocyte growth factor)"""			7749227, 1409637	Standard	NM_002009		Approved	KGF	uc001zxn.3	P21781	OTTHUMG00000131517	ENST00000267843.4:c.497C>T	15.37:g.49776613C>T	ENSP00000267843:p.Ala166Val	Somatic		WXS	Illumina GAIIx	Phase_IV	H0YNY5|Q6FGV5|Q96FG5	Missense_Mutation	SNP	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF	p.A166V	ENST00000267843.4	37	c.497	CCDS10131.1	15	.	.	.	.	.	.	.	.	.	.	C	23.7	4.452741	0.84209	.	.	ENSG00000140285	ENST00000267843	D	0.84298	-1.83	5.81	5.81	0.92471	.	0.100221	0.64402	D	0.000002	D	0.86535	0.5956	.	.	.	0.80722	D	1	D	0.54397	0.966	P	0.45138	0.471	D	0.88106	0.2822	9	0.87932	D	0	.	19.6764	0.95936	0.0:1.0:0.0:0.0	.	166	P21781	FGF7_HUMAN	V	166	ENSP00000267843:A166V	ENSP00000267843:A166V	A	+	2	0	FGF7	47563905	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.150000	0.50662	2.730000	0.93505	0.650000	0.86243	GCC	FGF7	-	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF	ENSG00000140285		0.358	FGF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF7	HGNC	protein_coding	OTTHUMT00000254374.3	69	0.00	0	C	NM_002009		49776613	49776613	+1	no_errors	ENST00000267843	ensembl	human	known	69_37n	missense	45	22.41	13	SNP	1.000	T
FGL2	10875	genome.wustl.edu	37	7	76825881	76825881	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:76825881G>A	ENST00000248598.5	-	2	1067	c.1035C>T	c.(1033-1035)ttC>ttT	p.F345F	CCDC146_ENST00000431197.1_Intron|RP11-467H10.2_ENST00000459742.1_RNA|CCDC146_ENST00000285871.4_Intron	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	345	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						AATGTTTGTTGAAACGTAATG	0.393																																						dbGAP											0													184.0	157.0	166.0					7																	76825881		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Z36531	CCDS5591.1	7q11.23	2013-02-06			ENSG00000127951	ENSG00000127951		"""Fibrinogen C domain containing"""	3696	protein-coding gene	gene with protein product		605351				7642106	Standard	NM_006682		Approved	pT49, T49	uc003ugb.3	Q14314	OTTHUMG00000130681	ENST00000248598.5:c.1035C>T	7.37:g.76825881G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.F345	ENST00000248598.5	37	c.1035	CCDS5591.1	7																																																																																			FGL2	-	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	ENSG00000127951		0.393	FGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGL2	HGNC	protein_coding	OTTHUMT00000253176.1	95	0.00	0	G	NM_006682		76825881	76825881	-1	no_errors	ENST00000248598	ensembl	human	known	69_37n	silent	80	32.20	38	SNP	1.000	A
FHAD1	114827	genome.wustl.edu	37	1	15578350	15578350	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:15578350G>A	ENST00000375998.4	+	1	70	c.70G>A	c.(70-72)Gaa>Aaa	p.E24K	FHAD1_ENST00000417793.1_Missense_Mutation_p.E24K|FHAD1_ENST00000375999.3_Missense_Mutation_p.E24K|FHAD1_ENST00000358897.4_Missense_Mutation_p.E24K			B1AJZ9	FHAD1_HUMAN	forkhead-associated (FHA) phosphopeptide binding domain 1	24	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.									skin(1)|stomach(1)	2						TGGAAGGCATGAAAATTCAGA	0.448																																						dbGAP											0													119.0	108.0	111.0					1																	15578350		692	1591	2283	-	-	-	SO:0001583	missense	0			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.70G>A	1.37:g.15578350G>A	ENSP00000365166:p.Glu24Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0P6F5|Q8N8D3|Q8N9T6|Q8NA05	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.E24K	ENST00000375998.4	37	c.70		1	.	.	.	.	.	.	.	.	.	.	G	11.15	1.552711	0.27739	.	.	ENSG00000142621	ENST00000358897;ENST00000417793;ENST00000375999;ENST00000375998	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	4.96	4.05	0.47172	Forkhead-associated (FHA) domain (4);SMAD/FHA domain (1);	0.320351	0.23738	N	0.045041	T	0.25269	0.0614	N	0.13043	0.29	0.80722	D	1	B	0.23937	0.094	B	0.23018	0.043	T	0.06607	-1.0817	10	0.46703	T	0.11	-7.3454	9.1585	0.37007	0.0986:0.0:0.9014:0.0	.	24	B1AJZ9	FHAD1_HUMAN	K	24	ENSP00000351770:E24K;ENSP00000407615:E24K;ENSP00000365167:E24K;ENSP00000365166:E24K	ENSP00000351770:E24K	E	+	1	0	FHAD1	15450937	0.743000	0.28239	0.555000	0.28281	0.467000	0.32768	0.824000	0.27379	1.322000	0.45245	-0.140000	0.14226	GAA	FHAD1	-	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	ENSG00000142621		0.448	FHAD1-026	PUTATIVE	basic|appris_candidate_longest	protein_coding	FHAD1	HGNC	protein_coding	OTTHUMT00000393400.2	66	0.00	0	G	NM_052929		15578350	15578350	+1	no_errors	ENST00000375999	ensembl	human	known	69_37n	missense	31	31.11	14	SNP	0.844	A
FHL2	2274	genome.wustl.edu	37	2	105990173	105990173	+	Missense_Mutation	SNP	G	G	C	rs141208906		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:105990173G>C	ENST00000409807.1	-	3	508	c.174C>G	c.(172-174)gaC>gaG	p.D58E	FHL2_ENST00000358129.4_Missense_Mutation_p.D58E|FHL2_ENST00000336660.5_Intron|AC012360.6_ENST00000457290.2_RNA|FHL2_ENST00000408995.1_Missense_Mutation_p.D58E|FHL2_ENST00000393352.3_Missense_Mutation_p.D58E|FHL2_ENST00000409177.1_Missense_Mutation_p.D174E|AC012360.6_ENST00000415627.1_RNA|FHL2_ENST00000344213.4_Missense_Mutation_p.D168E|FHL2_ENST00000322142.8_Missense_Mutation_p.D58E|FHL2_ENST00000393353.3_Missense_Mutation_p.D58E			Q14192	FHL2_HUMAN	four and a half LIM domains 2	58	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				androgen receptor signaling pathway (GO:0030521)|atrial cardiac muscle cell development (GO:0055014)|cellular lipid metabolic process (GO:0044255)|heart trabecula formation (GO:0060347)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle cell development (GO:0055015)	actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|M band (GO:0031430)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Z disc (GO:0030018)	androgen receptor binding (GO:0050681)|identical protein binding (GO:0042802)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						GCCAGTGCCGGTCCTTGTAAG	0.582																																						dbGAP											0													83.0	73.0	76.0					2																	105990173		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2070.1	2q12.2	2014-09-17			ENSG00000115641	ENSG00000115641			3703	protein-coding gene	gene with protein product		602633				8753811	Standard	NM_201557		Approved	SLIM3, DRAL	uc002tcy.3	Q14192	OTTHUMG00000153120	ENST00000409807.1:c.174C>G	2.37:g.105990173G>C	ENSP00000386665:p.Asp58Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13229|Q13644|Q2I5I4|Q5TM15|Q9P294	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.D58E	ENST00000409807.1	37	c.174	CCDS2070.1	2	.	.	.	.	.	.	.	.	.	.	G	14.63	2.592871	0.46214	.	.	ENSG00000115641	ENST00000409177;ENST00000344213;ENST00000393353;ENST00000393352;ENST00000322142;ENST00000358129;ENST00000409807;ENST00000408995	D;D;D;D;D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3	4.93	-1.13	0.09775	Zinc finger, LIM-type (5);	0.045565	0.85682	N	0.000000	T	0.79215	0.4408	L	0.39245	1.2	0.80722	D	1	B;B;B;B	0.33022	0.02;0.02;0.394;0.021	B;B;B;B	0.37346	0.077;0.077;0.247;0.11	T	0.68588	-0.5369	10	0.51188	T	0.08	.	6.0133	0.19588	0.2906:0.1772:0.5322:0.0	.	58;58;168;58	Q2TSB7;Q2I5I4;Q2XQU9;Q14192	.;.;.;FHL2_HUMAN	E	58;168;58;58;58;58;58;58	ENSP00000386892:D58E;ENSP00000344266:D168E;ENSP00000377021:D58E;ENSP00000377020:D58E;ENSP00000322909:D58E;ENSP00000350846:D58E;ENSP00000386665:D58E;ENSP00000386633:D58E	ENSP00000322909:D58E	D	-	3	2	FHL2	105356605	1.000000	0.71417	0.992000	0.48379	0.987000	0.75469	1.774000	0.38573	-0.024000	0.13941	-0.244000	0.11960	GAC	FHL2	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	ENSG00000115641		0.582	FHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FHL2	HGNC	protein_coding	OTTHUMT00000329654.1	78	0.00	0	G			105990173	105990173	-1	no_errors	ENST00000322142	ensembl	human	known	69_37n	missense	94	22.31	27	SNP	1.000	C
FHOD1	29109	genome.wustl.edu	37	16	67263608	67263608	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:67263608C>G	ENST00000258201.4	-	22	3673	c.3426G>C	c.(3424-3426)ttG>ttC	p.L1142F	LRRC29_ENST00000393992.1_5'Flank|LRRC29_ENST00000462169.1_5'Flank|LRRC29_ENST00000341546.3_5'Flank|LRRC29_ENST00000409509.1_5'Flank|AC040160.1_ENST00000454102.2_5'Flank	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	1142					positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GCCCACTCTTCAACGTCCTTC	0.577																																						dbGAP											0													108.0	100.0	102.0					16																	67263608		2198	4300	6498	-	-	-	SO:0001583	missense	0			AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.3426G>C	16.37:g.67263608C>G	ENSP00000258201:p.Leu1142Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q59F76|Q6Y1F2|Q76MS8|Q8N521	Missense_Mutation	SNP	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.L1142F	ENST00000258201.4	37	c.3426	CCDS10834.1	16	.	.	.	.	.	.	.	.	.	.	C	11.80	1.747148	0.30955	.	.	ENSG00000135723	ENST00000258201	T	0.53206	0.63	5.46	3.52	0.40303	.	0.147884	0.46758	D	0.000266	T	0.69061	0.3069	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.70894	-0.4748	10	0.66056	D	0.02	.	11.2098	0.48790	0.0:0.7852:0.0:0.2148	.	1142	Q9Y613	FHOD1_HUMAN	F	1142	ENSP00000258201:L1142F	ENSP00000258201:L1142F	L	-	3	2	FHOD1	65821109	1.000000	0.71417	0.805000	0.32314	0.021000	0.10359	2.600000	0.46240	0.445000	0.26639	-1.814000	0.00607	TTG	FHOD1	-	NULL	ENSG00000135723		0.577	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FHOD1	HGNC	protein_coding	OTTHUMT00000268844.2	70	0.00	0	C			67263608	67263608	-1	no_errors	ENST00000258201	ensembl	human	known	69_37n	missense	90	22.22	26	SNP	0.999	G
FHOD1	29109	genome.wustl.edu	37	16	67265426	67265426	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:67265426C>T	ENST00000258201.4	-	16	2659	c.2412G>A	c.(2410-2412)ctG>ctA	p.L804L		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	804	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.|Interaction with ROCK1.				positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		TACCCACTTTCAGGTCAAACA	0.547																																						dbGAP											0													128.0	119.0	122.0					16																	67265426		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.2412G>A	16.37:g.67265426C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q59F76|Q6Y1F2|Q76MS8|Q8N521	Silent	SNP	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.L804	ENST00000258201.4	37	c.2412	CCDS10834.1	16																																																																																			FHOD1	-	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg	ENSG00000135723		0.547	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FHOD1	HGNC	protein_coding	OTTHUMT00000268844.2	101	0.00	0	C			67265426	67265426	-1	no_errors	ENST00000258201	ensembl	human	known	69_37n	silent	130	14.47	22	SNP	1.000	T
FIGF	2277	genome.wustl.edu	37	X	15381243	15381243	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:15381243C>T	ENST00000297904.3	-	2	718	c.289G>A	c.(289-291)Gaa>Aaa	p.E97K		NM_004469.4	NP_004460.1	O43915	VEGFD_HUMAN	c-fos induced growth factor (vascular endothelial growth factor D)	97					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|induction of positive chemotaxis (GO:0050930)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell chemotaxis (GO:0060754)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor binding (GO:0005172)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17	Hepatocellular(33;0.183)					TTTAGTGTTTCAATGTCATAG	0.448																																						dbGAP											0													79.0	65.0	70.0					X																	15381243		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ000185	CCDS14166.1	Xp22.31	2008-02-05			ENSG00000165197	ENSG00000165197			3708	protein-coding gene	gene with protein product		300091		VEGFD		9479493	Standard	NM_004469		Approved	VEGF-D	uc004cwt.2	O43915	OTTHUMG00000021175	ENST00000297904.3:c.289G>A	X.37:g.15381243C>T	ENSP00000297904:p.Glu97Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7Z3	Missense_Mutation	SNP	pfam_PD_growth_factor,smart_PD_growth_factor,pfscan_PD_growth_factor	p.E97K	ENST00000297904.3	37	c.289	CCDS14166.1	X	.	.	.	.	.	.	.	.	.	.	C	15.68	2.905738	0.52333	.	.	ENSG00000165197	ENST00000297904	.	.	.	5.53	4.67	0.58626	Platelet-derived growth factor (PDGF) (1);	0.049434	0.85682	D	0.000000	T	0.62122	0.2402	M	0.75777	2.31	0.53005	D	0.999961	B	0.13145	0.007	B	0.12837	0.008	T	0.59526	-0.7438	9	0.42905	T	0.14	-17.9291	12.8375	0.57782	0.0:0.9199:0.0:0.0801	.	97	O43915	VEGFD_HUMAN	K	97	.	ENSP00000297904:E97K	E	-	1	0	FIGF	15291164	1.000000	0.71417	0.097000	0.21041	0.850000	0.48378	5.534000	0.67167	1.124000	0.41980	-0.197000	0.12766	GAA	FIGF	-	pfscan_PD_growth_factor	ENSG00000165197		0.448	FIGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FIGF	HGNC	protein_coding	OTTHUMT00000055859.1	49	0.00	0	C	NM_004469		15381243	15381243	-1	no_errors	ENST00000297904	ensembl	human	known	69_37n	missense	62	11.43	8	SNP	1.000	T
FIGN	55137	genome.wustl.edu	37	2	164466816	164466816	+	Nonsense_Mutation	SNP	G	G	C	rs374655005		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:164466816G>C	ENST00000333129.3	-	3	1840	c.1526C>G	c.(1525-1527)tCa>tGa	p.S509*	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'Flank	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	509					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						GAACGCGTCTGACCTCAACAC	0.512																																						dbGAP											0													110.0	102.0	104.0					2																	164466816		2006	4194	6200	-	-	-	SO:0001587	stop_gained	0			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.1526C>G	2.37:g.164466816G>C	ENSP00000333836:p.Ser509*	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWM0|Q9H6M5|Q9NVZ9	Nonsense_Mutation	SNP	pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.S509*	ENST00000333129.3	37	c.1526	CCDS2221.2	2	.	.	.	.	.	.	.	.	.	.	G	38	7.203979	0.98132	.	.	ENSG00000182263	ENST00000333129	.	.	.	5.66	5.66	0.87406	.	0.129452	0.53938	D	0.000052	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-19.784	19.7468	0.96255	0.0:0.0:1.0:0.0	.	.	.	.	X	509	.	ENSP00000333836:S509X	S	-	2	0	FIGN	164175062	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.869000	0.99810	2.678000	0.91216	0.563000	0.77884	TCA	FIGN	-	NULL	ENSG00000182263		0.512	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FIGN	HGNC	protein_coding	OTTHUMT00000157220.2	80	0.00	0	G	NM_018086		164466816	164466816	-1	no_errors	ENST00000333129	ensembl	human	known	69_37n	nonsense	85	16.67	17	SNP	1.000	C
FIGNL1	63979	genome.wustl.edu	37	7	50513475	50513475	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:50513475G>A	ENST00000419119.1	-	2	3064	c.1511C>T	c.(1510-1512)tCc>tTc	p.S504F	FIGNL1_ENST00000395556.2_Missense_Mutation_p.S504F|FIGNL1_ENST00000356889.4_Missense_Mutation_p.S504F|FIGNL1_ENST00000433017.1_Missense_Mutation_p.S504F			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	504					ATP metabolic process (GO:0046034)|cellular response to ionizing radiation (GO:0071479)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|regulation of cell cycle (GO:0051726)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|hydrolase activity (GO:0016787)|magnesium ion binding (GO:0000287)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				AGATAACAAGGAATCAATTTC	0.398																																						dbGAP											0													98.0	97.0	97.0					7																	50513475		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK023142	CCDS5510.1	7p12.2	2010-04-21			ENSG00000132436	ENSG00000132436		"""ATPases / AAA-type"""	13286	protein-coding gene	gene with protein product		615383					Standard	XM_005271783		Approved		uc003tpc.3	Q6PIW4	OTTHUMG00000022866	ENST00000419119.1:c.1511C>T	7.37:g.50513475G>A	ENSP00000410811:p.Ser504Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DVM6|Q86V18|Q8ND59|Q9H8P1|Q9H917	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase	p.S504F	ENST00000419119.1	37	c.1511	CCDS5510.1	7	.	.	.	.	.	.	.	.	.	.	G	22.2	4.252830	0.80135	.	.	ENSG00000132436	ENST00000356889;ENST00000395556;ENST00000433017;ENST00000419119	D;D;D;D	0.94046	-3.34;-3.34;-3.34;-3.34	6.17	6.17	0.99709	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.97318	0.9123	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97240	0.9890	10	0.87932	D	0	-12.2265	19.8676	0.96824	0.0:0.0:1.0:0.0	.	504	Q6PIW4	FIGL1_HUMAN	F	504	ENSP00000349356:S504F;ENSP00000378924:S504F;ENSP00000399997:S504F;ENSP00000410811:S504F	ENSP00000349356:S504F	S	-	2	0	FIGNL1	50480969	1.000000	0.71417	0.949000	0.38748	0.715000	0.41141	8.007000	0.88571	2.941000	0.99782	0.655000	0.94253	TCC	FIGNL1	-	pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase	ENSG00000132436		0.398	FIGNL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FIGNL1	HGNC	protein_coding	OTTHUMT00000342579.1	44	0.00	0	G	NM_001042762		50513475	50513475	-1	no_errors	ENST00000356889	ensembl	human	known	69_37n	missense	48	21.31	13	SNP	1.000	A
FKBP10	60681	genome.wustl.edu	37	17	39973388	39973388	+	Silent	SNP	C	C	T	rs137853882		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:39973388C>T	ENST00000321562.4	+	2	428	c.324C>T	c.(322-324)ggC>ggT	p.G108G	FKBP10_ENST00000544340.1_5'Flank	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	108	PPIase FKBP-type 1. {ECO:0000255|PROSITE- ProRule:PRU00277}.		Missing (in OI11).		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)		GCCTCATGGGCATGTGTGTCA	0.662																																						dbGAP											0													125.0	104.0	111.0					17																	39973388		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			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.324C>T	17.37:g.39973388C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z3R4|Q9H3N3|Q9H6J3|Q9H6N5|Q9UF89	Silent	SNP	pfam_PPIase_FKBP_dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_PPIase_FKBP_dom	p.G108	ENST00000321562.4	37	c.324	CCDS11409.1	17																																																																																			FKBP10	-	pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom	ENSG00000141756		0.662	FKBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP10	HGNC	protein_coding	OTTHUMT00000257410.2	64	0.00	0	C	NM_021939		39973388	39973388	+1	no_errors	ENST00000321562	ensembl	human	known	69_37n	silent	34	36.36	20	SNP	1.000	T
FKBP5	2289	genome.wustl.edu	37	6	35543683	35543683	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:35543683C>G	ENST00000539068.1	-	11	1505	c.1303G>C	c.(1303-1305)Gaa>Caa	p.E435Q	FKBP5_ENST00000536438.1_Missense_Mutation_p.E435Q|FKBP5_ENST00000357266.4_Missense_Mutation_p.E435Q|FKBP5_ENST00000540787.1_Missense_Mutation_p.E256Q	NM_001145776.1	NP_001139248.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	435					chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	FK506 binding (GO:0005528)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						GTGACCCCTTCTGAAGTCTTC	0.448																																						dbGAP											0													333.0	310.0	318.0					6																	35543683		2203	4300	6503	-	-	-	SO:0001583	missense	0			U42031	CCDS4808.1, CCDS54996.1	6p21.31	2013-01-10	2001-11-28		ENSG00000096060	ENSG00000096060		"""Tetratricopeptide (TTC) repeat domain containing"""	3721	protein-coding gene	gene with protein product		602623	"""FK506-binding protein 5"""			9001212	Standard	NM_004117		Approved	FKBP51, FKBP54, PPIase, P54, Ptg-10	uc003okx.2	Q13451	OTTHUMG00000014576	ENST00000539068.1:c.1303G>C	6.37:g.35543683C>G	ENSP00000441205:p.Glu435Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	F5H7R1|Q59EB8|Q5TGM6	Missense_Mutation	SNP	pfam_PPIase_FKBP_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom	p.E435Q	ENST00000539068.1	37	c.1303	CCDS4808.1	6	.	.	.	.	.	.	.	.	.	.	C	11.26	1.586132	0.28268	.	.	ENSG00000096060	ENST00000536438;ENST00000357266;ENST00000539068;ENST00000337746;ENST00000540787;ENST00000543400	D;D;D;D	0.83075	-1.65;-1.65;-1.65;-1.68	5.17	2.35	0.29111	.	0.681305	0.14473	N	0.317465	T	0.51618	0.1685	N	0.22421	0.69	0.09310	N	0.999999	B	0.14438	0.01	B	0.12156	0.007	T	0.47686	-0.9098	10	0.49607	T	0.09	-9.6623	6.2557	0.20872	0.0:0.6834:0.1536:0.163	.	435	Q13451	FKBP5_HUMAN	Q	435;435;435;435;256;398	ENSP00000444810:E435Q;ENSP00000349811:E435Q;ENSP00000441205:E435Q;ENSP00000445412:E256Q	ENSP00000338160:E435Q	E	-	1	0	FKBP5	35651661	0.015000	0.18098	0.021000	0.16686	0.992000	0.81027	1.193000	0.32162	0.539000	0.28788	0.655000	0.94253	GAA	FKBP5	-	NULL	ENSG00000096060		0.448	FKBP5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP5	HGNC	protein_coding	OTTHUMT00000040309.2	220	0.00	0	C			35543683	35543683	-1	no_errors	ENST00000337746	ensembl	human	known	69_37n	missense	152	25.12	51	SNP	0.010	G
FKBP8	23770	genome.wustl.edu	37	19	18649051	18649051	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:18649051G>C	ENST00000596558.2	-	5	853	c.744C>G	c.(742-744)atC>atG	p.I248M	FKBP8_ENST00000453489.2_Missense_Mutation_p.I277M|FKBP8_ENST00000597960.3_Missense_Mutation_p.I249M|FKBP8_ENST00000222308.4_Missense_Mutation_p.I248M|FKBP8_ENST00000608443.1_Missense_Mutation_p.I249M|FKBP8_ENST00000610101.1_Intron|AC005387.2_ENST00000596596.1_RNA			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	248					apoptotic process (GO:0006915)|camera-type eye development (GO:0043010)|cell fate specification (GO:0001708)|chaperone-mediated protein folding (GO:0061077)|dorsal/ventral neural tube patterning (GO:0021904)|intracellular signal transduction (GO:0035556)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|positive regulation of BMP signaling pathway (GO:0030513)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of gene expression (GO:0010468)|smoothened signaling pathway (GO:0007224)|viral process (GO:0016032)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	FK506 binding (GO:0005528)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						TGATAGCCTTGATGGCGAGGT	0.652																																						dbGAP											0													71.0	64.0	66.0					19																	18649051		2203	4300	6503	-	-	-	SO:0001583	missense	0			L37033	CCDS32961.1	19p12	2013-01-10	2002-08-29		ENSG00000105701	ENSG00000105701		"""Tetratricopeptide (TTC) repeat domain containing"""	3724	protein-coding gene	gene with protein product	"""FK506-binding protein 8 (38kD)"""	604840	"""FK506-binding protein 8 (38kD)"""			7543869	Standard	NM_012181		Approved	FKBP38, FKBPr38	uc002njj.1	Q14318		ENST00000596558.2:c.744C>G	19.37:g.18649051G>C	ENSP00000472302:p.Ile248Met	Somatic		WXS	Illumina GAIIx	Phase_IV	C8C9T5|Q53GU3|Q7Z349|Q86YK6	Missense_Mutation	SNP	pfam_PPIase_FKBP_dom,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom	p.I277M	ENST00000596558.2	37	c.831		19	.	.	.	.	.	.	.	.	.	.	G	16.84	3.234629	0.58886	.	.	ENSG00000105701	ENST00000222308;ENST00000453489	T;T	0.77229	-1.08;-1.08	3.79	3.79	0.43588	Elongated TPR repeat-containing domain (1);	0.068539	0.64402	D	0.000012	T	0.73450	0.3588	N	0.22421	0.69	0.80722	D	1	D;P;P;D	0.59357	0.968;0.877;0.688;0.985	P;B;B;P	0.54460	0.474;0.378;0.35;0.753	T	0.75991	-0.3122	10	0.59425	D	0.04	-18.0652	10.9603	0.47381	0.0:0.19:0.81:0.0	.	277;192;248;249	B7Z6M0;B2R8G6;Q14318;Q14318-2	.;.;FKBP8_HUMAN;.	M	249;277	ENSP00000222308:I249M;ENSP00000388891:I277M	ENSP00000222308:I249M	I	-	3	3	FKBP8	18510051	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	1.944000	0.40263	1.959000	0.56917	0.561000	0.74099	ATC	FKBP8	-	smart_TPR_repeat	ENSG00000105701		0.652	FKBP8-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate	protein_coding	FKBP8	HGNC	protein_coding	OTTHUMT00000466374.3	14	0.00	0	G	NM_012181		18649051	18649051	-1	no_errors	ENST00000453489	ensembl	human	known	69_37n	missense	15	28.57	6	SNP	1.000	C
FLG	2312	genome.wustl.edu	37	1	152277037	152277037	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:152277037C>T	ENST00000368799.1	-	3	10360	c.10325G>A	c.(10324-10326)aGa>aAa	p.R3442K	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3442	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)			CCTTCCTCTTCTGCTTGACCC	0.597									Ichthyosis																													dbGAP											0													344.0	332.0	336.0					1																	152277037		2203	4300	6503	-	-	-	SO:0001583	missense	0	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.10325G>A	1.37:g.152277037C>T	ENSP00000357789:p.Arg3442Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.R3442K	ENST00000368799.1	37	c.10325	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.976915	0.34848	.	.	ENSG00000143631	ENST00000368799	T	0.01647	4.71	3.15	-6.3	0.02007	.	.	.	.	.	T	0.00784	0.0026	M	0.70595	2.14	0.09310	N	1	P	0.45715	0.865	P	0.46510	0.519	T	0.36114	-0.9761	9	0.07030	T	0.85	.	6.3559	0.21400	0.0:0.1588:0.5542:0.2871	.	3442	P20930	FILA_HUMAN	K	3442	ENSP00000357789:R3442K	ENSP00000357789:R3442K	R	-	2	0	FLG	150543661	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-2.736000	0.00801	-1.347000	0.02208	0.398000	0.26397	AGA	FLG	-	NULL	ENSG00000143631		0.597	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	235	0.00	0	C	NM_002016		152277037	152277037	-1	no_errors	ENST00000368799	ensembl	human	known	69_37n	missense	253	19.11	60	SNP	0.000	T
FLG	2312	genome.wustl.edu	37	1	152283475	152283475	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:152283475C>T	ENST00000368799.1	-	3	3922	c.3887G>A	c.(3886-3888)gGa>gAa	p.G1296E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1296	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)			ccgagaagatccatgatggtt	0.552									Ichthyosis																													dbGAP											0													182.0	181.0	182.0					1																	152283475		2203	4300	6503	-	-	-	SO:0001583	missense	0	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.3887G>A	1.37:g.152283475C>T	ENSP00000357789:p.Gly1296Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.G1296E	ENST00000368799.1	37	c.3887	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	C	4.315	0.057752	0.08339	.	.	ENSG00000143631	ENST00000368799	T	0.07567	3.18	2.61	0.509	0.16977	.	.	.	.	.	T	0.06781	0.0173	M	0.77616	2.38	0.09310	N	1	D	0.62365	0.991	P	0.58577	0.841	T	0.20638	-1.0269	9	0.13853	T	0.58	.	3.8627	0.09002	0.0:0.5449:0.2921:0.1629	.	1296	P20930	FILA_HUMAN	E	1296	ENSP00000357789:G1296E	ENSP00000357789:G1296E	G	-	2	0	FLG	150550099	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.043000	0.03535	-0.005000	0.14395	0.299000	0.19835	GGA	FLG	-	NULL	ENSG00000143631		0.552	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	255	0.00	0	C	NM_002016		152283475	152283475	-1	no_errors	ENST00000368799	ensembl	human	known	69_37n	missense	182	38.93	116	SNP	0.000	T
FLG	2312	genome.wustl.edu	37	1	152283641	152283641	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:152283641C>T	ENST00000368799.1	-	3	3756	c.3721G>A	c.(3721-3723)Gcc>Acc	p.A1241T	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1241	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)			GCCCAAGAGGCAGCTTCATGG	0.562									Ichthyosis																													dbGAP											0													302.0	288.0	293.0					1																	152283641		2203	4300	6503	-	-	-	SO:0001583	missense	0	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.3721G>A	1.37:g.152283641C>T	ENSP00000357789:p.Ala1241Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.A1241T	ENST00000368799.1	37	c.3721	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	A	11.57	1.678802	0.29783	.	.	ENSG00000143631	ENST00000368799	T	0.04454	3.62	1.58	-3.16	0.05217	.	.	.	.	.	T	0.00524	0.0017	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42103	-0.9471	9	0.23891	T	0.37	.	3.1189	0.06385	0.3144:0.3546:0.0:0.331	.	1241	P20930	FILA_HUMAN	T	1241	ENSP00000357789:A1241T	ENSP00000357789:A1241T	A	-	1	0	FLG	150550265	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.358000	0.02604	-2.770000	0.00365	-1.363000	0.01210	GCC	FLG	-	pfam_Filaggrin	ENSG00000143631		0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	295	0.00	0	C	NM_002016		152283641	152283641	-1	no_errors	ENST00000368799	ensembl	human	known	69_37n	missense	223	37.67	136	SNP	0.000	T
FLG	2312	genome.wustl.edu	37	1	152287134	152287134	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:152287134C>G	ENST00000368799.1	-	3	263	c.228G>C	c.(226-228)ctG>ctC	p.L76L	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	76	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				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)			TGAATACCATCAGAAGAAACT	0.393									Ichthyosis																													dbGAP											0													116.0	115.0	115.0					1																	152287134		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	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.228G>C	1.37:g.152287134C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q01720|Q5T583|Q9UC71	Silent	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.L76	ENST00000368799.1	37	c.228	CCDS30860.1	1																																																																																			FLG	-	pfscan_EF_HAND_2	ENSG00000143631		0.393	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	192	0.00	0	C	NM_002016		152287134	152287134	-1	no_errors	ENST00000368799	ensembl	human	known	69_37n	silent	148	21.58	41	SNP	0.720	G
FLG2	388698	genome.wustl.edu	37	1	152323345	152323345	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:152323345C>G	ENST00000388718.5	-	3	6989	c.6917G>C	c.(6916-6918)aGa>aCa	p.R2306T	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2306					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)			ATGGCCATGTCTAGTGGTATC	0.473																																						dbGAP											0													316.0	285.0	295.0					1																	152323345		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.6917G>C	1.37:g.152323345C>G	ENSP00000373370:p.Arg2306Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H4U1	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.R2306T	ENST00000388718.5	37	c.6917	CCDS30861.1	1	.	.	.	.	.	.	.	.	.	.	C	8.689	0.906862	0.17833	.	.	ENSG00000143520	ENST00000388718	T	0.39592	1.07	3.82	0.788	0.18601	.	.	.	.	.	T	0.27027	0.0662	L	0.48642	1.525	0.09310	N	1	D	0.54601	0.967	P	0.60789	0.879	T	0.12682	-1.0538	9	0.14656	T	0.56	0.0719	6.3977	0.21620	0.0:0.6691:0.0:0.3309	.	2306	Q5D862	FILA2_HUMAN	T	2306	ENSP00000373370:R2306T	ENSP00000373370:R2306T	R	-	2	0	FLG2	150589969	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.145000	0.03194	0.192000	0.20272	0.585000	0.79938	AGA	FLG2	-	NULL	ENSG00000143520		0.473	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG2	HGNC	protein_coding	OTTHUMT00000034018.5	258	0.00	0	C	NM_001014342		152323345	152323345	-1	no_errors	ENST00000388718	ensembl	human	known	69_37n	missense	277	21.53	76	SNP	0.000	G
FLII	2314	genome.wustl.edu	37	17	18148916	18148916	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:18148916C>G	ENST00000327031.4	-	28	3787	c.3562G>C	c.(3562-3564)Gat>Cat	p.D1188H	FLII_ENST00000545457.2_Missense_Mutation_p.D1133H|FLII_ENST00000578558.1_Intron|FLII_ENST00000379450.4_Missense_Mutation_p.D1102H|FLII_ENST00000579294.1_Missense_Mutation_p.D1177H	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	1188					multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					GCCAGGTCATCTTGGCAAAAG	0.522																																						dbGAP											0													221.0	197.0	205.0					17																	18148916		2203	4300	6503	-	-	-	SO:0001583	missense	0			U01184	CCDS11192.1, CCDS58521.1, CCDS58522.1	17p11.2	2008-07-18	2001-11-28		ENSG00000177731	ENSG00000177731			3750	protein-coding gene	gene with protein product		600362	"""flightless I (Drosophila) homolog"""			7825574	Standard	NM_002018		Approved	FLI, FLIL, Fli1, MGC39265	uc002gsr.2	Q13045	OTTHUMG00000059389	ENST00000327031.4:c.3562G>C	17.37:g.18148916C>G	ENSP00000324573:p.Asp1188His	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DIL0|F5H407|J3QLG3	Missense_Mutation	SNP	pfam_Gelsolin_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Gelsolin,prints_Gelsolin	p.D1188H	ENST00000327031.4	37	c.3562	CCDS11192.1	17	.	.	.	.	.	.	.	.	.	.	C	27.1	4.796127	0.90453	.	.	ENSG00000177731	ENST00000327031;ENST00000545457;ENST00000379450	T;T	0.25085	1.82;1.82	5.42	5.42	0.78866	Gelsolin domain (1);	0.000000	0.85682	D	0.000000	T	0.58438	0.2122	M	0.86268	2.805	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;0.998;0.999	T	0.64871	-0.6305	10	0.87932	D	0	-17.4816	19.2136	0.93767	0.0:1.0:0.0:0.0	.	1102;1102;1188;1157	E7EPM0;B4DIL0;Q13045;B4DIX0	.;.;FLII_HUMAN;.	H	1188;1067;1102	ENSP00000324573:D1188H;ENSP00000368763:D1102H	ENSP00000324573:D1188H	D	-	1	0	FLII	18089641	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	5.706000	0.68362	2.541000	0.85698	0.655000	0.94253	GAT	FLII	-	pfam_Gelsolin_dom,smart_Gelsolin	ENSG00000177731		0.522	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLII	HGNC	protein_coding	OTTHUMT00000132032.2	117	0.00	0	C	NM_002018		18148916	18148916	-1	no_errors	ENST00000327031	ensembl	human	known	69_37n	missense	109	27.33	41	SNP	1.000	G
FLII	2314	genome.wustl.edu	37	17	18149711	18149711	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:18149711G>A	ENST00000327031.4	-	24	3342	c.3117C>T	c.(3115-3117)atC>atT	p.I1039I	FLII_ENST00000545457.2_Silent_p.I984I|FLII_ENST00000578558.1_Intron|FLII_ENST00000379450.4_Silent_p.I953I|FLII_ENST00000579294.1_Silent_p.I1028I	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	1039					multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)	p.I1039I(1)		central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					CCCGGTGGATGATGAACTTCC	0.632																																						dbGAP											1	Substitution - coding silent(1)	lung(1)											166.0	161.0	163.0					17																	18149711		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			U01184	CCDS11192.1, CCDS58521.1, CCDS58522.1	17p11.2	2008-07-18	2001-11-28		ENSG00000177731	ENSG00000177731			3750	protein-coding gene	gene with protein product		600362	"""flightless I (Drosophila) homolog"""			7825574	Standard	NM_002018		Approved	FLI, FLIL, Fli1, MGC39265	uc002gsr.2	Q13045	OTTHUMG00000059389	ENST00000327031.4:c.3117C>T	17.37:g.18149711G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DIL0|F5H407|J3QLG3	Silent	SNP	pfam_Gelsolin_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Gelsolin,prints_Gelsolin	p.I1039	ENST00000327031.4	37	c.3117	CCDS11192.1	17																																																																																			FLII	-	NULL	ENSG00000177731		0.632	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLII	HGNC	protein_coding	OTTHUMT00000132032.2	119	0.00	0	G	NM_002018		18149711	18149711	-1	no_errors	ENST00000327031	ensembl	human	known	69_37n	silent	87	20.18	22	SNP	0.997	A
MROH5	389690	genome.wustl.edu	37	8	142505477	142505477	+	RNA	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:142505477C>A	ENST00000430863.1	-	0	449					NM_207414.2	NP_997297.2	Q6ZUA9	MROH5_HUMAN	maestro heat-like repeat family member 5																		TGGTTTCCATCACCAGCTTGG	0.567																																						dbGAP											0													124.0	121.0	122.0					8																	142505477		2026	4193	6219	-	-	-			0					8q24.3	2012-12-20			ENSG00000226807	ENSG00000226807		"""maestro heat-like repeat containing"""	42976	protein-coding gene	gene with protein product							Standard	NM_207414		Approved	FLJ43860	uc003ywi.2	Q6ZUA9	OTTHUMG00000155944		8.37:g.142505477C>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.V88	ENST00000430863.1	37	c.264		8																																																																																			AC100803.1	-	NULL	ENSG00000226807		0.567	MROH5-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	FLJ43860	Clone_based_vega_gene	polymorphic_pseudogene	OTTHUMT00000342412.4	50	0.00	0	C	NM_207414		142505477	142505477	-1	no_stop_codon	ENST00000521161	ensembl	human	putative	69_37n	silent	103	19.53	25	SNP	0.996	A
FLNA	2316	genome.wustl.edu	37	X	153582801	153582801	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:153582801C>G	ENST00000369850.3	-	33	5600	c.5364G>C	c.(5362-5364)ctG>ctC	p.L1788L	FLNA_ENST00000369856.3_5'UTR|FLNA_ENST00000344736.4_Silent_p.L1748L|FLNA_ENST00000360319.4_Silent_p.L1780L|FLNA_ENST00000422373.1_Silent_p.L1780L	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1788					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)					CAAAGGGCCTCAGGCTGGTCA	0.627																																						dbGAP											0													46.0	45.0	46.0					X																	153582801		2035	4172	6207	-	-	-	SO:0001819	synonymous_variant	0			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.5364G>C	X.37:g.153582801C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	E9KL45|Q5HY53|Q5HY55|Q8NF52	Nonstop_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	p.*71S	ENST00000369850.3	37	c.212	CCDS48194.1	X	.	.	.	.	.	.	.	.	.	.	C	6.384	0.438872	0.12104	.	.	ENSG00000196924	ENST00000438732	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.1784	0.42952	0.1502:0.7069:0.1428:0.0	.	.	.	.	S	71	.	.	X	-	2	2	FLNA	153235995	0.997000	0.39634	1.000000	0.80357	0.928000	0.56348	0.603000	0.24149	2.385000	0.81259	0.529000	0.55759	TGA	FLNA	-	superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000196924		0.627	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNA	HGNC	protein_coding	OTTHUMT00000058942.3	29	0.00	0	C			153582801	153582801	-1	no_start_codon:pseudogene:no_stop_codon	ENST00000438732	ensembl	human	novel	69_37n	nonstop	38	24.00	12	SNP	1.000	G
FLNA	2316	genome.wustl.edu	37	X	153585974	153585974	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:153585974C>T	ENST00000369850.3	-	29	5009	c.4773G>A	c.(4771-4773)ccG>ccA	p.P1591P	FLNA_ENST00000369856.3_5'UTR|FLNA_ENST00000344736.4_Silent_p.P1591P|FLNA_ENST00000360319.4_Silent_p.P1591P|FLNA_ENST00000422373.1_Silent_p.P1591P	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1591	Interaction with furin. {ECO:0000250}.				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)					GTGTCTTCTTCGGCTTGCCTT	0.622																																						dbGAP											0													136.0	133.0	134.0					X																	153585974		2174	4245	6419	-	-	-	SO:0001819	synonymous_variant	0			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.4773G>A	X.37:g.153585974C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	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.P1591	ENST00000369850.3	37	c.4773	CCDS48194.1	X																																																																																			FLNA	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000196924		0.622	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNA	HGNC	protein_coding	OTTHUMT00000058942.3	99	0.00	0	C			153585974	153585974	-1	no_errors	ENST00000369850	ensembl	human	known	69_37n	silent	84	24.11	27	SNP	1.000	T
FLNA	2316	genome.wustl.edu	37	X	153586611	153586611	+	Missense_Mutation	SNP	C	C	G	rs190415098		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:153586611C>G	ENST00000369850.3	-	28	4947	c.4711G>C	c.(4711-4713)Gat>Cat	p.D1571H	FLNA_ENST00000369856.3_5'Flank|FLNA_ENST00000344736.4_Missense_Mutation_p.D1571H|FLNA_ENST00000360319.4_Missense_Mutation_p.D1571H|FLNA_ENST00000422373.1_Missense_Mutation_p.D1571H	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1571	Interaction with furin. {ECO:0000250}.				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)					TCCTTTGCATCGATGGTGAAC	0.682																																						dbGAP											0													25.0	27.0	26.0					X																	153586611		2115	4223	6338	-	-	-	SO:0001583	missense	0			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.4711G>C	X.37:g.153586611C>G	ENSP00000358866:p.Asp1571His	Somatic		WXS	Illumina GAIIx	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.D1571H	ENST00000369850.3	37	c.4711	CCDS48194.1	X	.	.	.	.	.	.	.	.	.	.	C	27.7	4.856645	0.91433	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94	5.63	5.63	0.86233	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.93400	0.7895	M	0.85859	2.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94177	0.7428	10	0.87932	D	0	.	18.7865	0.91957	0.0:1.0:0.0:0.0	.	1571;1571	P21333-2;P21333	.;FLNA_HUMAN	H	1571;1544;1571;1571;1571	ENSP00000353467:D1571H;ENSP00000416926:D1571H;ENSP00000358866:D1571H;ENSP00000358863:D1571H	ENSP00000358863:D1571H	D	-	1	0	FLNA	153239805	1.000000	0.71417	0.982000	0.44146	0.829000	0.46940	7.789000	0.85783	2.382000	0.81193	0.526000	0.51066	GAT	FLNA	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000196924		0.682	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNA	HGNC	protein_coding	OTTHUMT00000058942.3	27	0.00	0	C			153586611	153586611	-1	no_errors	ENST00000369850	ensembl	human	known	69_37n	missense	21	22.22	6	SNP	1.000	G
FLNA	2316	genome.wustl.edu	37	X	153596430	153596430	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:153596430C>T	ENST00000369850.3	-	3	638	c.402G>A	c.(400-402)ctG>ctA	p.L134L	FLNA_ENST00000344736.4_Silent_p.L134L|FLNA_ENST00000360319.4_Silent_p.L134L|FLNA_ENST00000422373.1_Silent_p.L134L	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	134	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				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)					GGATCAGCTTCAGGTTCCCGT	0.622																																						dbGAP											0													127.0	134.0	132.0					X																	153596430		2186	4281	6467	-	-	-	SO:0001819	synonymous_variant	0			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.402G>A	X.37:g.153596430C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	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.L134	ENST00000369850.3	37	c.402	CCDS48194.1	X																																																																																			FLNA	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000196924		0.622	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNA	HGNC	protein_coding	OTTHUMT00000058942.3	66	0.00	0	C			153596430	153596430	-1	no_errors	ENST00000369850	ensembl	human	known	69_37n	silent	58	18.31	13	SNP	1.000	T
FLNC	2318	genome.wustl.edu	37	7	128486124	128486124	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:128486124C>G	ENST00000325888.8	+	22	4132	c.3871C>G	c.(3871-3873)Cgt>Ggt	p.R1291G	FLNC_ENST00000346177.6_Missense_Mutation_p.R1291G	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1291					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CGTGACGGCTCGTGTGCTCAA	0.627																																						dbGAP											0													41.0	46.0	44.0					7																	128486124		2040	4188	6228	-	-	-	SO:0001583	missense	0			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.3871C>G	7.37:g.128486124C>G	ENSP00000327145:p.Arg1291Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	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.R1291G	ENST00000325888.8	37	c.3871	CCDS43644.1	7	.	.	.	.	.	.	.	.	.	.	C	16.34	3.095740	0.56075	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.86164	-2.08;-2.08	5.07	5.07	0.68467	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.252366	0.39909	N	0.001223	D	0.86711	0.5998	L	0.46947	1.48	0.37994	D	0.933996	B;B	0.30068	0.267;0.169	B;B	0.37304	0.246;0.176	D	0.87562	0.2472	10	0.59425	D	0.04	.	18.4511	0.90704	0.0:1.0:0.0:0.0	.	1291;1291	Q14315-2;Q14315	.;FLNC_HUMAN	G	1291	ENSP00000327145:R1291G;ENSP00000344002:R1291G	ENSP00000327145:R1291G	R	+	1	0	FLNC	128273360	0.000000	0.05858	0.671000	0.29857	0.942000	0.58702	0.873000	0.28052	2.360000	0.80028	0.555000	0.69702	CGT	FLNC	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000128591		0.627	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNC	HGNC	protein_coding	OTTHUMT00000059948.3	10	0.00	0	C			128486124	128486124	+1	no_errors	ENST00000325888	ensembl	human	known	69_37n	missense	18	30.77	8	SNP	0.662	G
FLT1	2321	genome.wustl.edu	37	13	28971161	28971161	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr13:28971161G>C	ENST00000282397.4	-	12	1847	c.1596C>G	c.(1594-1596)atC>atG	p.I532M	FLT1_ENST00000541932.1_Missense_Mutation_p.I532M	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	532	Ig-like C2-type 5.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGCAAATGTAGATTCCAGAAA	0.408																																						dbGAP											0													120.0	110.0	114.0					13																	28971161		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.1596C>G	13.37:g.28971161G>C	ENSP00000282397:p.Ile532Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR1_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N	p.I532M	ENST00000282397.4	37	c.1596	CCDS9330.1	13	.	.	.	.	.	.	.	.	.	.	G	7.759	0.704938	0.15172	.	.	ENSG00000102755	ENST00000282397;ENST00000541932	T;T	0.36340	1.26;2.62	5.87	5.87	0.94306	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.436981	0.25047	N	0.033558	T	0.49745	0.1575	L	0.39397	1.21	0.80722	D	1	D;D;D	0.60160	0.987;0.987;0.96	P;P;P	0.62089	0.898;0.898;0.882	T	0.14117	-1.0484	10	0.19590	T	0.45	.	20.2191	0.98319	0.0:0.0:1.0:0.0	.	532;532;532	P17948-3;P17948-2;P17948	.;.;VGFR1_HUMAN	M	532	ENSP00000282397:I532M;ENSP00000437631:I532M	ENSP00000282397:I532M	I	-	3	3	FLT1	27869161	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.484000	0.53201	2.780000	0.95670	0.655000	0.94253	ATC	FLT1	-	smart_Ig_sub,pfscan_Ig-like	ENSG00000102755		0.408	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT1	HGNC	protein_coding	OTTHUMT00000044322.1	112	0.00	0	G			28971161	28971161	-1	no_errors	ENST00000282397	ensembl	human	known	69_37n	missense	78	21.21	21	SNP	1.000	C
FLYWCH1	84256	genome.wustl.edu	37	16	2988357	2988357	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:2988357C>T	ENST00000253928.9	+	8	2355	c.1950C>T	c.(1948-1950)atC>atT	p.I650I	FLYWCH1_ENST00000399667.2_Silent_p.I699I|FLYWCH1_ENST00000570752.1_3'UTR|LA16c-321D4.2_ENST00000573260.1_RNA|FLYWCH1_ENST00000416288.2_Silent_p.I649I			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1	650						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|lung(3)	4						GCCACCGCATCATGGTCATGC	0.687																																						dbGAP											0													17.0	22.0	20.0					16																	2988357		2051	4188	6239	-	-	-	SO:0001819	synonymous_variant	0			AL136585	CCDS45390.1	16p13.3	2013-01-10	2007-06-21	2007-06-21	ENSG00000059122	ENSG00000059122		"""Zinc fingers"""	25404	protein-coding gene	gene with protein product						11230166, 10997877	Standard	XM_006720959		Approved	DKFZp761A132	uc002csc.3	Q4VC44		ENST00000253928.9:c.1950C>T	16.37:g.2988357C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DUA1|Q6ZSQ1|Q8WV62|Q9BQG6|Q9BUS5|Q9HCM0	Missense_Mutation	SNP	pfam_Znf_FLYWCH	p.S413L	ENST00000253928.9	37	c.1238		16																																																																																			FLYWCH1	-	pfam_Znf_FLYWCH	ENSG00000059122		0.687	FLYWCH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	FLYWCH1	HGNC	protein_coding	OTTHUMT00000436479.1	23	0.00	0	C	NM_032296		2988357	2988357	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000573564	ensembl	human	putative	69_37n	missense	21	22.22	6	SNP	0.628	T
FMNL3	91010	genome.wustl.edu	37	12	50045782	50045782	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:50045782C>T	ENST00000293590.5	-	14	1770	c.1537G>A	c.(1537-1539)Gag>Aag	p.E513K	FMNL3_ENST00000335154.5_Missense_Mutation_p.E513K|FMNL3_ENST00000550488.1_Missense_Mutation_p.E513K|FMNL3_ENST00000352151.5_Missense_Mutation_p.E462K			Q8IVF7	FMNL3_HUMAN	formin-like 3	513	Pro-rich.				actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						AGGACCTCCTCAGGGGGTGGG	0.672																																						dbGAP											0													17.0	21.0	20.0					12																	50045782		2012	4167	6179	-	-	-	SO:0001583	missense	0			AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.1537G>A	12.37:g.50045782C>T	ENSP00000293590:p.Glu513Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B0JZA7|Q6ZRJ1	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.E513K	ENST00000293590.5	37	c.1537		12	.	.	.	.	.	.	.	.	.	.	C	10.54	1.377441	0.24944	.	.	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000352151;ENST00000293590	T;T;T;T	0.09255	3.0;3.0;3.0;3.0	5.18	5.18	0.71444	.	0.931585	0.09102	N	0.848318	T	0.09642	0.0237	L	0.40543	1.245	0.25570	N	0.986905	B;B;B	0.22003	0.058;0.058;0.063	B;B;B	0.22601	0.04;0.04;0.026	T	0.40776	-0.9545	10	0.06625	T	0.88	.	10.1642	0.42871	0.0:0.908:0.0:0.0919	.	462;513;513	Q8IVF7-2;Q8IVF7-3;Q8IVF7	.;.;FMNL3_HUMAN	K	513;513;462;513	ENSP00000335655:E513K;ENSP00000447479:E513K;ENSP00000344311:E462K;ENSP00000293590:E513K	ENSP00000293590:E513K	E	-	1	0	FMNL3	48332049	0.255000	0.24002	0.955000	0.39395	0.542000	0.35054	0.607000	0.24209	2.586000	0.87340	0.561000	0.74099	GAG	FMNL3	-	NULL	ENSG00000161791		0.672	FMNL3-201	KNOWN	basic	protein_coding	FMNL3	HGNC	protein_coding		25	0.00	0	C	NM_175736		50045782	50045782	-1	no_errors	ENST00000293590	ensembl	human	known	69_37n	missense	18	40.00	12	SNP	0.822	T
FMO3	2328	genome.wustl.edu	37	1	171076846	171076846	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:171076846G>T	ENST00000367755.4	+	4	463	c.352G>T	c.(352-354)Gat>Tat	p.D118Y	FMO3_ENST00000542847.1_Missense_Mutation_p.D98Y|FMO3_ENST00000392085.2_Missense_Mutation_p.D118Y|FMO3_ENST00000538429.1_Missense_Mutation_p.D55Y	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	118					drug metabolic process (GO:0017144)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	amino acid binding (GO:0016597)|flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)|trimethylamine monooxygenase activity (GO:0034899)			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	TAAACATCCTGATTTTGCAAC	0.383																																						dbGAP											0													108.0	106.0	107.0					1																	171076846		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC032016	CCDS1292.1	1q24.3	2013-10-01			ENSG00000007933	ENSG00000007933	2.6.1.16		3771	protein-coding gene	gene with protein product		136132				8486388, 9417913	Standard	NM_001002294		Approved		uc001ghh.3	P31513	OTTHUMG00000035505	ENST00000367755.4:c.352G>T	1.37:g.171076846G>T	ENSP00000356729:p.Asp118Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R816|Q14854|Q8N5N5	Missense_Mutation	SNP	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_3,prints_Flavin_mOase_1,prints_Flavin_mOase_2	p.D118Y	ENST00000367755.4	37	c.352	CCDS1292.1	1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.091718	0.55968	.	.	ENSG00000007933	ENST00000367755;ENST00000392085;ENST00000542847;ENST00000538429	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	4.84	2.93	0.34026	.	0.098408	0.64402	D	0.000002	T	0.80803	0.4693	H	0.97365	3.99	0.50632	D	0.999886	D;D;D	0.89917	0.996;1.0;1.0	D;D;D	0.78314	0.946;0.99;0.991	D	0.84604	0.0674	10	0.87932	D	0	-8.6385	10.8171	0.46583	0.1588:0.0:0.8412:0.0	.	55;98;118	F5H261;F5GZZ8;P31513	.;.;FMO3_HUMAN	Y	118;118;98;55	ENSP00000356729:D118Y;ENSP00000375935:D118Y;ENSP00000444073:D98Y;ENSP00000439500:D55Y	ENSP00000356729:D118Y	D	+	1	0	FMO3	169343470	1.000000	0.71417	0.971000	0.41717	0.437000	0.31866	3.261000	0.51530	0.420000	0.25954	0.591000	0.81541	GAT	FMO3	-	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase	ENSG00000007933		0.383	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMO3	HGNC	protein_coding	OTTHUMT00000086219.1	134	0.00	0	G	NM_006894		171076846	171076846	+1	no_errors	ENST00000367755	ensembl	human	known	69_37n	missense	142	20.67	37	SNP	1.000	T
FMO3	2328	genome.wustl.edu	37	1	171083156	171083156	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:171083156G>A	ENST00000367755.4	+	7	948	c.837G>A	c.(835-837)agG>agA	p.R279R	FMO3_ENST00000542847.1_Silent_p.R259R|FMO3_ENST00000392085.2_Silent_p.R279R|FMO3_ENST00000538429.1_Silent_p.R216R	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	279					drug metabolic process (GO:0017144)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	amino acid binding (GO:0016597)|flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)|trimethylamine monooxygenase activity (GO:0034899)			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	GAGTCCTGAGGAAAGAGCCTG	0.398																																						dbGAP											0													67.0	61.0	63.0					1																	171083156		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC032016	CCDS1292.1	1q24.3	2013-10-01			ENSG00000007933	ENSG00000007933	2.6.1.16		3771	protein-coding gene	gene with protein product		136132				8486388, 9417913	Standard	NM_001002294		Approved		uc001ghh.3	P31513	OTTHUMG00000035505	ENST00000367755.4:c.837G>A	1.37:g.171083156G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R816|Q14854|Q8N5N5	Silent	SNP	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_3,prints_Flavin_mOase_1,prints_Flavin_mOase_2	p.R279	ENST00000367755.4	37	c.837	CCDS1292.1	1																																																																																			FMO3	-	pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase	ENSG00000007933		0.398	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMO3	HGNC	protein_coding	OTTHUMT00000086219.1	69	0.00	0	G	NM_006894		171083156	171083156	+1	no_errors	ENST00000367755	ensembl	human	known	69_37n	silent	75	14.77	13	SNP	0.809	A
FMO2	2327	genome.wustl.edu	37	1	171165874	171165874	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:171165874G>C	ENST00000209929.7	+	4	566	c.408G>C	c.(406-408)caG>caC	p.Q136H	FMO2_ENST00000441535.1_Missense_Mutation_p.Q136H|FMO2_ENST00000529935.1_3'UTR|RP1-127D3.4_ENST00000422841.1_RNA|RP1-127D3.4_ENST00000445909.1_RNA|RP1-127D3.4_ENST00000445290.1_RNA			P31512	FMO4_HUMAN	flavin containing monooxygenase 2 (non-functional)	136					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GCAAGGAGCAGAGTGCTGTCT	0.493																																						dbGAP											0													162.0	136.0	145.0					1																	171165874		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC005894	CCDS1293.1	1q24.3	2011-08-04	2006-07-17		ENSG00000094963	ENSG00000094963			3770	protein-coding gene	gene with protein product		603955	"""flavin containing monooxygenase 2"""			1417778, 9804831	Standard	XR_426768		Approved		uc001ghk.1	Q99518	OTTHUMG00000035504	ENST00000209929.7:c.408G>C	1.37:g.171165874G>C	ENSP00000209929:p.Gln136His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53XR0	Missense_Mutation	SNP	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Flavin_mOase,prints_Flavin_mOase_2,prints_Flavin_mOase_1,prints_Flavin_mOase_5	p.Q136H	ENST00000209929.7	37	c.408	CCDS1293.1	1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.470166	0.43839	.	.	ENSG00000094963	ENST00000209929;ENST00000441535	T;T	0.54279	0.58;0.58	5.66	-11.2	0.00127	.	0.308452	0.33980	N	0.004380	T	0.11665	0.0284	N	0.17345	0.48	0.19300	N	0.999979	B	0.06786	0.001	B	0.18263	0.021	T	0.22243	-1.0222	10	0.66056	D	0.02	-3.536	10.3456	0.43903	0.3465:0.1609:0.4927:0.0	.	136	Q99518	FMO2_HUMAN	H	136	ENSP00000209929:Q136H;ENSP00000405905:Q136H	ENSP00000209929:Q136H	Q	+	3	2	FMO2	169432498	0.000000	0.05858	0.002000	0.10522	0.793000	0.44817	-0.546000	0.06062	-1.653000	0.01500	-0.345000	0.07892	CAG	FMO2	-	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Flavin_mOase	ENSG00000094963		0.493	FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMO2	HGNC	protein_coding	OTTHUMT00000086216.2	103	0.00	0	G	NM_001460		171165874	171165874	+1	no_errors	ENST00000209929	ensembl	human	known	69_37n	missense	139	13.66	22	SNP	0.000	C
FMO1	2326	genome.wustl.edu	37	1	171254610	171254610	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:171254610C>G	ENST00000354841.4	+	8	1657	c.1526C>G	c.(1525-1527)tCt>tGt	p.S509C	FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000367750.3_Missense_Mutation_p.S509C|FMO1_ENST00000402921.2_Missense_Mutation_p.S446C	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	509					NADPH oxidation (GO:0070995)|organic acid metabolic process (GO:0006082)|small molecule metabolic process (GO:0044281)|toxin metabolic process (GO:0009404)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|monooxygenase activity (GO:0004497)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Cevimeline(DB00185)|Cimetidine(DB00501)|Lorcaserin(DB04871)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	GAGTCTCCATCTCCCTTTGAA	0.423																																						dbGAP											0													84.0	84.0	84.0					1																	171254610		2203	4300	6503	-	-	-	SO:0001583	missense	0			M64082	CCDS1294.1, CCDS60351.1	1q24.3	2011-08-04			ENSG00000010932	ENSG00000010932	1.14.13.8		3769	protein-coding gene	gene with protein product		136130					Standard	XM_005245037		Approved		uc001ghl.3	Q01740	OTTHUMG00000035502	ENST00000354841.4:c.1526C>G	1.37:g.171254610C>G	ENSP00000346901:p.Ser509Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K248|B7Z3P4|Q5QPT2|Q9UJC2	Missense_Mutation	SNP	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_1,prints_Flavin_mOase_2	p.S509C	ENST00000354841.4	37	c.1526	CCDS1294.1	1	.	.	.	.	.	.	.	.	.	.	C	6.187	0.402648	0.11696	.	.	ENSG00000010932	ENST00000367750;ENST00000402921;ENST00000354841	T;T;T	0.55930	0.49;0.49;0.49	5.61	2.48	0.30137	.	0.867005	0.10112	N	0.714536	T	0.32971	0.0847	L	0.33189	0.99	0.09310	N	1	D;D	0.65815	0.995;0.983	P;P	0.59595	0.86;0.81	T	0.14172	-1.0482	10	0.41790	T	0.15	-8.9375	0.8225	0.01114	0.197:0.4:0.1319:0.2711	.	446;509	B7Z3P4;Q01740	.;FMO1_HUMAN	C	509;446;509	ENSP00000356724:S509C;ENSP00000385543:S446C;ENSP00000346901:S509C	ENSP00000346901:S509C	S	+	2	0	FMO1	169521234	0.000000	0.05858	0.047000	0.18901	0.528000	0.34623	0.128000	0.15810	0.734000	0.32515	0.557000	0.71058	TCT	FMO1	-	pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase_1	ENSG00000010932		0.423	FMO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FMO1	HGNC	protein_coding	OTTHUMT00000086212.1	92	0.00	0	C	NM_002021		171254610	171254610	+1	no_errors	ENST00000354841	ensembl	human	known	69_37n	missense	106	17.19	22	SNP	0.000	G
FNDC3B	64778	genome.wustl.edu	37	3	172046820	172046820	+	Missense_Mutation	SNP	A	A	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:172046820A>T	ENST00000336824.4	+	12	1432	c.1333A>T	c.(1333-1335)Atg>Ttg	p.M445L	FNDC3B_ENST00000416957.1_Missense_Mutation_p.M445L|FNDC3B_ENST00000415807.2_Missense_Mutation_p.M445L	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	445	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		TTGTCCGGCAATGGGGTACAC	0.478																																						dbGAP											0													142.0	136.0	138.0					3																	172046820		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"""Fibronectin type III domain containing"""	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.1333A>T	3.37:g.172046820A>T	ENSP00000338523:p.Met445Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.M445L	ENST00000336824.4	37	c.1333	CCDS3217.1	3	.	.	.	.	.	.	.	.	.	.	A	11.12	1.544522	0.27563	.	.	ENSG00000075420	ENST00000415807;ENST00000336824;ENST00000416957	T;T;T	0.57273	0.41;0.41;0.41	5.63	3.26	0.37387	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.343688	0.40385	N	0.001109	T	0.28995	0.0720	N	0.17594	0.5	0.42195	D	0.991746	B;B	0.02656	0.0;0.0	B;B	0.09377	0.001;0.004	T	0.08722	-1.0708	10	0.33940	T	0.23	-11.2142	1.9312	0.03328	0.548:0.1249:0.207:0.1202	.	445;445	Q53EP0-2;Q53EP0	.;FND3B_HUMAN	L	445	ENSP00000411242:M445L;ENSP00000338523:M445L;ENSP00000389094:M445L	ENSP00000338523:M445L	M	+	1	0	FNDC3B	173529514	0.967000	0.33354	0.547000	0.28179	0.992000	0.81027	2.215000	0.42862	0.517000	0.28361	0.533000	0.62120	ATG	FNDC3B	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000075420		0.478	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC3B	HGNC	protein_coding	OTTHUMT00000345618.2	57	0.00	0	A	NM_022763		172046820	172046820	+1	no_errors	ENST00000336824	ensembl	human	known	69_37n	missense	91	18.75	21	SNP	0.186	T
FNIP2	57600	genome.wustl.edu	37	4	159756598	159756598	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:159756598delG	ENST00000264433.6	+	7	772	c.697delG	c.(697-699)gaafs	p.E233fs	FNIP2_ENST00000379346.3_Frame_Shift_Del_p.E256fs	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	233					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		AGGACAGAATGAAGACAGGGA	0.413																																						dbGAP											0													293.0	306.0	302.0					4																	159756598		2017	4184	6201	-	-	-	SO:0001589	frameshift_variant	0			AB040883	CCDS47155.1	4q32.1	2012-10-31			ENSG00000052795	ENSG00000052795			29280	protein-coding gene	gene with protein product	"""O6-methylguanine-induced apoptosis 1"""	612768				18403135	Standard	NM_020840		Approved	KIAA1450, FNIPL, MAPO1	uc003iqe.4	Q9P278	OTTHUMG00000161983	ENST00000264433.6:c.697delG	4.37:g.159756598delG	ENSP00000264433:p.Glu233fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q05DC3|Q96I31|Q9H994	Frame_Shift_Del	DEL	NULL	p.E256fs	ENST00000264433.6	37	c.766	CCDS47155.1	4																																																																																			FNIP2	-	NULL	ENSG00000052795		0.413	FNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNIP2	HGNC	protein_coding	OTTHUMT00000366602.1	143	0.00	0	G	NM_020840		159756598	159756598	+1	no_errors	ENST00000379346	ensembl	human	known	69_37n	frame_shift_del	95	18.85	23	DEL	1.000	-
FOCAD	54914	genome.wustl.edu	37	9	20944691	20944691	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:20944691C>G	ENST00000380249.1	+	31	3837	c.3473C>G	c.(3472-3474)tCc>tGc	p.S1158C	FOCAD_ENST00000605086.1_Missense_Mutation_p.S594C|FOCAD_ENST00000338382.6_Missense_Mutation_p.S1158C	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	1158						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											CAAATGCAGTCCCGCGTTCAC	0.522																																						dbGAP											0													130.0	112.0	118.0					9																	20944691		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.3473C>G	9.37:g.20944691C>G	ENSP00000369599:p.Ser1158Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold	p.S1158C	ENST00000380249.1	37	c.3473	CCDS34993.1	9	.	.	.	.	.	.	.	.	.	.	C	17.15	3.315240	0.60524	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.68765	-0.35;-0.35	5.73	5.73	0.89815	Armadillo-type fold (1);	0.435124	0.27500	N	0.019089	T	0.80401	0.4616	M	0.67953	2.075	0.41268	D	0.986829	D	0.89917	1.0	D	0.85130	0.997	T	0.81371	-0.0963	10	0.72032	D	0.01	-22.2163	15.3661	0.74523	0.0:0.8609:0.1391:0.0	.	1158	Q5VW36	K1797_HUMAN	C	1158	ENSP00000369599:S1158C;ENSP00000344307:S1158C	ENSP00000344307:S1158C	S	+	2	0	KIAA1797	20934691	0.997000	0.39634	0.962000	0.40283	0.429000	0.31625	3.924000	0.56476	2.854000	0.98071	0.655000	0.94253	TCC	FOCAD	-	superfamily_ARM-type_fold	ENSG00000188352		0.522	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOCAD	HGNC	protein_coding	OTTHUMT00000143442.1	112	0.00	0	C	NM_017794		20944691	20944691	+1	no_errors	ENST00000338382	ensembl	human	known	69_37n	missense	80	39.85	53	SNP	0.994	G
FOLR3	2352	genome.wustl.edu	37	11	71850524	71850524	+	Nonsense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:71850524C>G	ENST00000445078.2	+	4	682	c.611C>G	c.(610-612)tCa>tGa	p.S204*	FOLR3_ENST00000442948.2_Nonsense_Mutation_p.S163*|FOLR3_ENST00000456237.1_Nonsense_Mutation_p.S206*			P41439	FOLR3_HUMAN	folate receptor 3 (gamma)	162					folic acid transport (GO:0015884)	extracellular region (GO:0005576)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	folic acid binding (GO:0005542)			large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	AATTGGACCTCAGGTGAGGAC	0.582																																						dbGAP											0													26.0	26.0	26.0					11																	71850524		2200	4293	6493	-	-	-	SO:0001587	stop_gained	0			U08471	CCDS73344.1	11q13.4	2012-11-14			ENSG00000110203	ENSG00000110203			3795	protein-coding gene	gene with protein product		602469				8110752	Standard	NM_000804		Approved	FR-G	uc001orx.1	P41439	OTTHUMG00000167870	ENST00000445078.2:c.611C>G	11.37:g.71850524C>G	ENSP00000390338:p.Ser204*	Somatic		WXS	Illumina GAIIx	Phase_IV	J3KQ90|Q05C14	Nonsense_Mutation	SNP	pfam_Folate_rcpt-like	p.S206*	ENST00000445078.2	37	c.617		11	.	.	.	.	.	.	.	.	.	.	N	13.78	2.339680	0.41398	.	.	ENSG00000110203	ENST00000445078;ENST00000456237;ENST00000442948	.	.	.	3.21	1.2	0.21068	.	0.250117	0.26907	U	0.021900	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	6.3139	0.21180	0.1809:0.7147:0.0:0.1045	.	.	.	.	X	204;206;163	.	ENSP00000411161:S163X	S	+	2	0	FOLR3	71528172	1.000000	0.71417	0.975000	0.42487	0.110000	0.19582	3.629000	0.54266	0.169000	0.19679	-0.194000	0.12790	TCA	FOLR3	-	pfam_Folate_rcpt-like	ENSG00000110203		0.582	FOLR3-001	NOVEL	upstream_ATG|basic	protein_coding	FOLR3	HGNC	protein_coding	OTTHUMT00000396739.1	26	0.00	0	C	NM_000804		71850524	71850524	+1	no_errors	ENST00000456237	ensembl	human	known	69_37n	nonsense	44	18.52	10	SNP	1.000	G
FOPNL	123811	genome.wustl.edu	37	16	15973705	15973705	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:15973705G>A	ENST00000255759.6	-	3	296	c.267C>T	c.(265-267)ctC>ctT	p.L89L	RNU6-213P_ENST00000384051.1_RNA|FOPNL_ENST00000575073.1_Silent_p.L89L|FOPNL_ENST00000573968.1_Intron|FOPNL_ENST00000573396.1_Silent_p.L113L|FOPNL_ENST00000573429.1_Silent_p.L113L|FOPNL_ENST00000575744.1_Silent_p.L23L	NM_144600.2	NP_653201.1	Q96NB1	FOPNL_HUMAN	FGFR1OP N-terminal like	89	Necessary and sufficient for homooligomerization and localization to centrosomes and pericentriolar satellites.				cilium assembly (GO:0042384)|microtubule anchoring (GO:0034453)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.L89L(1)		breast(1)|large_intestine(1)|lung(5)|stomach(4)	11						GTTCATGGATGAGAAACTGTC	0.318																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											57.0	56.0	56.0					16																	15973705		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			AL832498	CCDS10567.1	16p13.11	2011-03-18	2011-03-18	2011-03-18	ENSG00000133393	ENSG00000133393			26435	protein-coding gene	gene with protein product	"""pluripotent embryonic stem cell-related protein"", ""FOP-related protein of 20 kDa"""		"""chromosome 16 open reading frame 63"""	C16orf63		12477932	Standard	NM_144600		Approved	DKFZp686N1651, FLJ31153, PHSECRG2, FOR20	uc002dec.1	Q96NB1	OTTHUMG00000129923	ENST00000255759.6:c.267C>T	16.37:g.15973705G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KPU9	Missense_Mutation	SNP	NULL	p.H123Y	ENST00000255759.6	37	c.367	CCDS10567.1	16																																																																																			FOPNL	-	NULL	ENSG00000133393		0.318	FOPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOPNL	HGNC	protein_coding	OTTHUMT00000252177.2	82	0.00	0	G	NM_144600		15973705	15973705	-1	no_errors	ENST00000572415	ensembl	human	known	69_37n	missense	42	31.15	19	SNP	1.000	A
FOSB	2354	genome.wustl.edu	37	19	45975845	45975845	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:45975845G>C	ENST00000353609.3	+	4	1184	c.592G>C	c.(592-594)Gag>Cag	p.E198Q	FOSB_ENST00000443841.2_Missense_Mutation_p.E55Q|ERCC1_ENST00000423698.2_Intron|FOSB_ENST00000417353.2_Missense_Mutation_p.E162Q|FOSB_ENST00000592436.1_Missense_Mutation_p.E198Q|FOSB_ENST00000586615.1_Missense_Mutation_p.E149Q|FOSB_ENST00000591858.1_Missense_Mutation_p.E159Q|FOSB_ENST00000592811.1_Missense_Mutation_p.E149Q|FOSB_ENST00000585836.1_Missense_Mutation_p.E123Q	NM_006732.2	NP_006723.2	P53539	FOSB_HUMAN	FBJ murine osteosarcoma viral oncogene homolog B	198	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular response to calcium ion (GO:0071277)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to progesterone (GO:0032570)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	13		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)		AGCAGAGCTGGAGTCGGAGAT	0.567																																						dbGAP											0													30.0	36.0	34.0					19																	45975845		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12664.1, CCDS46113.1	19q13.3	2013-01-10						"""basic leucine zipper proteins"""	3797	protein-coding gene	gene with protein product	"""oncogene FOS-B"", ""activator protein 1"""	164772				1301997	Standard	NM_006732		Approved	G0S3, GOSB, GOS3, AP-1, MGC42291, DKFZp686C0818	uc002pbx.4	P53539		ENST00000353609.3:c.592G>C	19.37:g.45975845G>C	ENSP00000245919:p.Glu198Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9K5|A8VJE1|A8VJE6|A8VJF0|A8VJF3|A8VJF7|A8VJG1|A8VJG5|A8VJG9|E7EPR6|E9PHJ3|K7EMJ6|Q49AD7	Missense_Mutation	SNP	pfam_bZIP_1,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos	p.E198Q	ENST00000353609.3	37	c.592	CCDS12664.1	19	.	.	.	.	.	.	.	.	.	.	G	11.84	1.758953	0.31137	.	.	ENSG00000125740	ENST00000353609;ENST00000417353;ENST00000455928;ENST00000443841	T;T;T	0.77229	0.56;-0.0;-1.08	4.77	4.77	0.60923	Basic-leucine zipper (bZIP) transcription factor (2);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	D	0.000000	T	0.63177	0.2489	N	0.01128	-1	0.58432	D	0.999992	D;D;D;P;D;D	0.64830	0.981;0.986;0.994;0.769;0.994;0.986	P;P;D;P;P;P	0.63597	0.88;0.887;0.916;0.888;0.88;0.887	T	0.64976	-0.6280	10	0.02654	T	1	-0.6094	15.3826	0.74673	0.0:0.0:1.0:0.0	.	55;159;123;55;162;198	E7EPR6;A8VJF0;A8VJF3;A8VJG5;E9PHJ3;P53539	.;.;.;.;.;FOSB_HUMAN	Q	198;162;198;55	ENSP00000245919:E198Q;ENSP00000407207:E162Q;ENSP00000414177:E55Q	ENSP00000245919:E198Q	E	+	1	0	FOSB	50667685	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.959000	0.49153	2.497000	0.84241	0.549000	0.68633	GAG	FOSB	-	pfam_bZIP_1,pfam_bZIP_2,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos	ENSG00000125740		0.567	FOSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOSB	HGNC	protein_coding	OTTHUMT00000459561.1	21	0.00	0	G	NM_006732		45975845	45975845	+1	no_errors	ENST00000353609	ensembl	human	known	69_37n	missense	21	25.00	7	SNP	1.000	C
FOXA1	3169	genome.wustl.edu	37	14	38061313	38061313	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:38061313C>T	ENST00000250448.2	-	2	737	c.676G>A	c.(676-678)Gac>Aac	p.D226N	FOXA1_ENST00000540786.1_Missense_Mutation_p.D193N|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	226					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|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 regulatory region DNA binding (GO:0044212)	p.D226N(2)|p.D226Y(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		ACGAAGCAGTCATTGAAGGAC	0.607																																						dbGAP											3	Substitution - Missense(3)	prostate(3)											49.0	48.0	49.0					14																	38061313		2203	4300	6503	-	-	-	SO:0001583	missense	0			U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.676G>A	14.37:g.38061313C>T	ENSP00000250448:p.Asp226Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9H6|B7ZAP5|Q9H2A0	Missense_Mutation	SNP	pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.D226N	ENST00000250448.2	37	c.676	CCDS9665.1	14	.	.	.	.	.	.	.	.	.	.	C	31	5.067571	0.93898	.	.	ENSG00000129514	ENST00000250448;ENST00000540786	D;D	0.95622	-3.76;-3.76	4.0	4.0	0.46444	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.85682	D	0.000000	D	0.97151	0.9069	M	0.81179	2.53	0.80722	D	1	D	0.57257	0.979	P	0.61658	0.892	D	0.97871	1.0286	10	0.87932	D	0	.	15.0053	0.71507	0.0:1.0:0.0:0.0	.	226	P55317	FOXA1_HUMAN	N	226;193	ENSP00000250448:D226N;ENSP00000440178:D193N	ENSP00000250448:D226N	D	-	1	0	FOXA1	37131064	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.547000	0.82146	2.057000	0.61298	0.400000	0.26472	GAC	FOXA1	-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	ENSG00000129514		0.607	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXA1	HGNC	protein_coding	OTTHUMT00000276735.1	49	0.00	0	C			38061313	38061313	-1	no_errors	ENST00000250448	ensembl	human	known	69_37n	missense	23	54.00	27	SNP	1.000	T
FOXD4L1	200350	genome.wustl.edu	37	2	114257232	114257232	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:114257232C>T	ENST00000306507.5	+	1	572	c.399C>T	c.(397-399)atC>atT	p.I133I		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	133					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						TCAGCGGCATCTGCGCCTTCA	0.627																																						dbGAP											0													36.0	48.0	44.0					2																	114257232		2164	4205	6369	-	-	-	SO:0001819	synonymous_variant	0			AF452723	CCDS2117.1	2q14.1	2008-02-05			ENSG00000184492	ENSG00000184492			18521	protein-coding gene	gene with protein product		611084				12421752, 15233989	Standard	NM_012184		Approved	FOXD5	uc002tjw.4	Q9NU39	OTTHUMG00000131359	ENST00000306507.5:c.399C>T	2.37:g.114257232C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWN1|B9EGF3	Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.I133	ENST00000306507.5	37	c.399	CCDS2117.1	2																																																																																			FOXD4L1	-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	ENSG00000184492		0.627	FOXD4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXD4L1	HGNC	protein_coding	OTTHUMT00000254148.1	78	0.00	0	C	NM_012184		114257232	114257232	+1	no_errors	ENST00000306507	ensembl	human	known	69_37n	silent	35	36.36	20	SNP	1.000	T
FOXE3	2301	genome.wustl.edu	37	1	47882467	47882467	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:47882467C>T	ENST00000335071.2	+	1	724	c.480C>T	c.(478-480)ttC>ttT	p.F160F		NM_012186.2	NP_036318.1	Q13461	FOXE3_HUMAN	forkhead box E3	160					camera-type eye development (GO:0043010)|cell development (GO:0048468)|positive regulation of epithelial cell proliferation (GO:0050679)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(3)|prostate(1)|upper_aerodigestive_tract(1)	5				READ - Rectum adenocarcinoma(2;0.0908)		ACGGCAGCTTCCTGCGGCGCC	0.746																																						dbGAP											0													18.0	22.0	21.0					1																	47882467		2198	4289	6487	-	-	-	SO:0001819	synonymous_variant	0			AF275722	CCDS550.1	1p32	2008-02-05			ENSG00000186790	ENSG00000186790		"""Forkhead boxes"""	3808	protein-coding gene	gene with protein product		601094		FKHL12		8825632	Standard	NM_012186		Approved	FREAC8	uc001crk.3	Q13461	OTTHUMG00000007954	ENST00000335071.2:c.480C>T	1.37:g.47882467C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5SVY9|Q9NQV9	Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.F160	ENST00000335071.2	37	c.480	CCDS550.1	1																																																																																			FOXE3	-	pfam_TF_fork_head,pfscan_TF_fork_head	ENSG00000186790		0.746	FOXE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXE3	HGNC	protein_coding	OTTHUMT00000021836.1	8	0.00	0	C	NM_012186		47882467	47882467	+1	no_errors	ENST00000335071	ensembl	human	known	69_37n	silent	5	58.33	7	SNP	1.000	T
FOXG1	2290	genome.wustl.edu	37	14	29237811	29237811	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:29237811C>T	ENST00000313071.4	+	1	1525	c.1326C>T	c.(1324-1326)tcC>tcT	p.S442S	FOXG1_ENST00000382535.3_Silent_p.S442S	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	442					aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		CGTCCTCCTCCACGTCGCCGC	0.607																																						dbGAP											0													64.0	61.0	62.0					14																	29237811		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"""Forkhead boxes"""	3811	protein-coding gene	gene with protein product		164874	"""forkhead box G1B"", ""forkhead box G1C"", ""forkhead box G1A"""	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.1326C>T	14.37:g.29237811C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFY2|P55315|Q14488|Q86XT7	Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.S442	ENST00000313071.4	37	c.1326	CCDS9636.1	14																																																																																			FOXG1	-	NULL	ENSG00000176165		0.607	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXG1	HGNC	protein_coding	OTTHUMT00000276559.3	40	0.00	0	C			29237811	29237811	+1	no_errors	ENST00000313071	ensembl	human	known	69_37n	silent	44	15.38	8	SNP	1.000	T
FPGT-TNNI3K	100526835	genome.wustl.edu	37	1	74834917	74834917	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:74834917C>T	ENST00000370899.3	+	17	1781	c.1744C>T	c.(1744-1746)Cga>Tga	p.R582*	TNNI3K_ENST00000326637.3_Nonsense_Mutation_p.R481*|FPGT-TNNI3K_ENST00000370895.1_Nonsense_Mutation_p.R582*|FPGT-TNNI3K_ENST00000557284.2_Nonsense_Mutation_p.R595*|TNNI3K_ENST00000370891.2_Nonsense_Mutation_p.R582*|RP11-439H8.4_ENST00000415549.2_RNA	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough																		ATATAAAGGACGATGCAGAAA	0.313																																						dbGAP											0													38.0	42.0	40.0					1																	74834917		2198	4295	6493	-	-	-	SO:0001587	stop_gained	0					1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.1744C>T	1.37:g.74834917C>T	ENSP00000359936:p.Arg582*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R582*	ENST00000370899.3	37	c.1744		1	.	.	.	.	.	.	.	.	.	.	C	39	7.554773	0.98355	.	.	ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783;ENSG00000116783	ENST00000370899;ENST00000370895;ENST00000557284;ENST00000370891;ENST00000326637;ENST00000534020	.	.	.	5.51	-0.399	0.12415	.	0.123056	0.52532	D	0.000075	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	10.4651	0.44602	0.5847:0.3482:0.0:0.0671	.	.	.	.	X	582;582;582;582;481;5	.	ENSP00000322251:R481X	R	+	1	2	RP11-653A5.2;AC093158.1	74607505	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	1.996000	0.40776	0.250000	0.21479	0.650000	0.86243	CGA	FPGT-TNNI3K	-	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	ENSG00000116783		0.313	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	FPGT-TNNI3K	HGNC	protein_coding	OTTHUMT00000026438.3	84	0.00	0	C			74834917	74834917	+1	no_errors	ENST00000370891	ensembl	human	known	69_37n	nonsense	40	28.57	16	SNP	0.998	T
LRRC53	100144878	genome.wustl.edu	37	1	74954930	74954930	+	Intron	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:74954930G>A	ENST00000294635.4	-	2	89				TNNI3K_ENST00000326637.3_Missense_Mutation_p.E727K|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.E841K|TNNI3K_ENST00000370891.2_Missense_Mutation_p.E828K			A6NM62	LRC53_HUMAN	leucine rich repeat containing 53							integral component of membrane (GO:0016021)				NS(1)|breast(1)|lung(2)	4						CTGCAACATTGAGGTAAAAGC	0.373																																						dbGAP											0													70.0	80.0	76.0					1																	74954930		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0					1p31.3	2010-08-31			ENSG00000162621	ENSG00000162621			25255	protein-coding gene	gene with protein product							Standard			Approved			A6NM62	OTTHUMG00000009621	ENST00000294635.4:c.26-5871C>T	1.37:g.74954930G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E828K	ENST00000294635.4	37	c.2482		1	.	.	.	.	.	.	.	.	.	.	G	18.34	3.601700	0.66445	.	.	ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000557284;ENST00000370891;ENST00000326637	T;T;T	0.34667	1.35;1.35;1.35	4.85	4.85	0.62838	Protein kinase-like domain (1);	0.052267	0.85682	D	0.000000	T	0.14743	0.0356	N	0.14661	0.345	0.58432	D	0.999999	B;B	0.28291	0.131;0.206	B;B	0.31101	0.027;0.124	T	0.05402	-1.0887	10	0.28530	T	0.3	.	18.9279	0.92552	0.0:0.0:1.0:0.0	.	727;828	Q59H18;Q59H18-1	TNI3K_HUMAN;.	K	828;828;727	ENSP00000450895:E828K;ENSP00000359928:E828K;ENSP00000322251:E727K	ENSP00000322251:E727K	E	+	1	0	RP11-653A5.2;AC093158.1	74727518	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	8.839000	0.92120	2.637000	0.89404	0.644000	0.83932	GAG	FPGT-TNNI3K	-	superfamily_Kinase-like_dom	ENSG00000116783		0.373	LRRC53-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	FPGT-TNNI3K	HGNC	protein_coding	OTTHUMT00000026515.2	57	0.00	0	G			74954930	74954930	+1	no_errors	ENST00000370891	ensembl	human	known	69_37n	missense	34	19.05	8	SNP	1.000	A
FRAS1	80144	genome.wustl.edu	37	4	79229317	79229317	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:79229317G>C	ENST00000325942.6	+	15	2072	c.1632G>C	c.(1630-1632)gaG>gaC	p.E544D	FRAS1_ENST00000264895.6_Missense_Mutation_p.E544D|FRAS1_ENST00000264899.6_Missense_Mutation_p.E544D	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	544					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GCGGCTGTGAGAGCAGCTGTG	0.577																																						dbGAP											0													69.0	79.0	75.0					4																	79229317		2160	4262	6422	-	-	-	SO:0001583	missense	0			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.1632G>C	4.37:g.79229317G>C	ENSP00000326330:p.Glu544Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EGF-like,smart_Calx_beta,pfscan_VWF_C	p.E544D	ENST00000325942.6	37	c.1632	CCDS54772.1	4	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	0.029|0.029|0.029	-1.347056|-1.347056|-1.347056	0.01266|0.01266|0.01266	.|.|.	.|.|.	ENSG00000138759|ENSG00000138759|ENSG00000138759	ENST00000325942;ENST00000264895;ENST00000264899|ENST00000508900|ENST00000502446	T;T;T|T|.	0.44881|0.28255|.	0.99;1.56;0.91|1.62|.	5.57|5.57|5.57	-6.22|-6.22|-6.22	0.02058|0.02058|0.02058	Growth factor, receptor (1);|.|.	0.775950|0.775950|.	0.11660|0.11660|.	N|N|.	0.541955|0.541955|.	T|T|T	0.30355|0.30355|0.30355	0.0762|0.0762|0.0762	L|L|L	0.52364|0.52364|0.52364	1.645|1.645|1.645	0.09310|0.09310|0.09310	N|N|N	1|1|1	B;B;B;B|.|.	0.13594|.|.	0.001;0.002;0.003;0.008|.|.	B;B;B;B|.|.	0.12156|.|.	0.003;0.003;0.004;0.007|.|.	T|T|T	0.28490|0.28490|0.28490	-1.0042|-1.0042|-1.0042	10|8|5	0.13470|0.15952|.	T|T|.	0.59|0.53|.	.|.|.	1.2313|1.2313|1.2313	0.01943|0.01943|0.01943	0.3283:0.2799:0.2289:0.1629|0.3283:0.2799:0.2289:0.1629|0.3283:0.2799:0.2289:0.1629	.|.|.	544;544;544;544|.|.	E9PHH6;Q86XX4;E7EWM9;A2RRR8|.|.	.;FRAS1_HUMAN;.;.|.|.	D|Q|T	544|387|473	ENSP00000326330:E544D;ENSP00000264895:E544D;ENSP00000264899:E544D|ENSP00000423809:E387Q|.	ENSP00000264895:E544D|ENSP00000423809:E387Q|.	E|E|R	+|+|+	3|1|2	2|0|0	FRAS1|FRAS1|FRAS1	79448341|79448341|79448341	0.000000|0.000000|0.000000	0.05858|0.05858|0.05858	0.000000|0.000000|0.000000	0.03702|0.03702|0.03702	0.001000|0.001000|0.001000	0.01503|0.01503|0.01503	-0.511000|-0.511000|-0.511000	0.06321|0.06321|0.06321	-1.861000|-1.861000|-1.861000	0.01153|0.01153|0.01153	-4.035000|-4.035000|-4.035000	0.00013|0.00013|0.00013	GAG|GAG|AGA	FRAS1	-	superfamily_Growth_fac_rcpt,smart_Furin_repeat	ENSG00000138759		0.577	FRAS1-001	NOVEL	basic|CCDS	protein_coding	FRAS1	HGNC	protein_coding	OTTHUMT00000362706.2	82	0.00	0	G			79229317	79229317	+1	no_errors	ENST00000264895	ensembl	human	known	69_37n	missense	48	44.83	39	SNP	0.000	C
FRAS1	80144	genome.wustl.edu	37	4	79367922	79367922	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:79367922C>T	ENST00000264895.6	+	43	6338	c.5898C>T	c.(5896-5898)ctC>ctT	p.L1966L		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1966					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGCAGCCCCTCAGAGTGCAGC	0.433																																						dbGAP											0													63.0	68.0	66.0					4																	79367922		1973	4172	6145	-	-	-	SO:0001819	synonymous_variant	0			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.5898C>T	4.37:g.79367922C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Nonsense_Mutation	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.Q195*	ENST00000264895.6	37	c.583	CCDS54771.1	4	.	.	.	.	.	.	.	.	.	.	C	0.041	-1.283586	0.01398	.	.	ENSG00000138759	ENST00000512123	.	.	.	5.77	0.301	0.15781	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.3	0.04160	0.1161:0.2889:0.3579:0.2371	.	.	.	.	X	195	.	.	Q	+	1	0	FRAS1	79586946	0.000000	0.05858	0.034000	0.17996	0.025000	0.11179	-1.272000	0.02826	-0.290000	0.09025	0.650000	0.86243	CAG	FRAS1	-	NULL	ENSG00000138759		0.433	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FRAS1	HGNC	protein_coding		73	0.00	0	C			79367922	79367922	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000512123	ensembl	human	novel	69_37n	nonsense	58	26.58	21	SNP	0.045	T
FREM1	158326	genome.wustl.edu	37	9	14824945	14824945	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:14824945C>G	ENST00000380880.3	-	11	2710	c.1927G>C	c.(1927-1929)Gag>Cag	p.E643Q	FREM1_ENST00000422223.2_Missense_Mutation_p.E643Q|FREM1_ENST00000380881.4_Missense_Mutation_p.E644Q			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	643					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)		CCAGGAGCCTCTTTTGGAAGC	0.373																																						dbGAP											0													79.0	74.0	76.0					9																	14824945		1820	4072	5892	-	-	-	SO:0001583	missense	0			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.1927G>C	9.37:g.14824945C>G	ENSP00000370262:p.Glu643Gln	Somatic		WXS	Illumina GAIIx	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.E644Q	ENST00000380880.3	37	c.1930	CCDS47952.1	9	.	.	.	.	.	.	.	.	.	.	C	26.5	4.741548	0.89573	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.42900	0.96;0.96;0.96	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.65260	0.2674	M	0.78916	2.43	0.58432	D	0.999999	D	0.76494	0.999	D	0.70487	0.969	T	0.57670	-0.7771	10	0.15499	T	0.54	-21.9814	20.3206	0.98668	0.0:1.0:0.0:0.0	.	643	Q5H8C1	FREM1_HUMAN	Q	644;643;643	ENSP00000370263:E644Q;ENSP00000412940:E643Q;ENSP00000370262:E643Q	ENSP00000370257:E646Q	E	-	1	0	FREM1	14814945	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.487000	0.81328	2.809000	0.96659	0.655000	0.94253	GAG	FREM1	-	NULL	ENSG00000164946		0.373	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FREM1	HGNC	protein_coding	OTTHUMT00000339474.2	106	0.00	0	C	NM_144966		14824945	14824945	-1	no_errors	ENST00000380881	ensembl	human	known	69_37n	missense	64	27.27	24	SNP	1.000	G
FREM2	341640	genome.wustl.edu	37	13	39452330	39452330	+	Missense_Mutation	SNP	T	T	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr13:39452330T>C	ENST00000280481.7	+	22	8947	c.8731T>C	c.(8731-8733)Tac>Cac	p.Y2911H		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2911					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGACTCCTTTTACTGCAGCAT	0.418																																						dbGAP											0													233.0	198.0	210.0					13																	39452330		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.8731T>C	13.37:g.39452330T>C	ENSP00000280481:p.Tyr2911His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.Y2911H	ENST00000280481.7	37	c.8731	CCDS31960.1	13	.	.	.	.	.	.	.	.	.	.	T	8.851	0.944477	0.18356	.	.	ENSG00000150893	ENST00000280481	T	0.63580	-0.05	5.93	2.19	0.27852	.	0.267267	0.39146	N	0.001459	T	0.42086	0.1187	L	0.41027	1.25	0.24107	N	0.995857	B	0.09022	0.002	B	0.09377	0.004	T	0.15235	-1.0444	10	0.15499	T	0.54	.	1.5938	0.02659	0.1261:0.2007:0.1317:0.5415	.	2911	Q5SZK8	FREM2_HUMAN	H	2911	ENSP00000280481:Y2911H	ENSP00000280481:Y2911H	Y	+	1	0	FREM2	38350330	0.051000	0.20477	0.901000	0.35422	0.953000	0.61014	0.218000	0.17622	0.157000	0.19338	0.482000	0.46254	TAC	FREM2	-	NULL	ENSG00000150893		0.418	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FREM2	HGNC	protein_coding	OTTHUMT00000044599.2	121	0.00	0	T	NM_207361		39452330	39452330	+1	no_errors	ENST00000280481	ensembl	human	known	69_37n	missense	101	10.62	12	SNP	0.609	C
FREM3	166752	genome.wustl.edu	37	4	144545427	144545427	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:144545427C>A	ENST00000329798.5	-	4	5486	c.5487G>T	c.(5485-5487)caG>caT	p.Q1829H		NM_001168235.1	NP_001161707.1	P0C091	FREM3_HUMAN	FRAS1 related extracellular matrix 3	1829	Calx-beta 1.				cell adhesion (GO:0007155)|cell communication (GO:0007154)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|prostate(1)	8						TGAACTGGATCTGTTTATTGG	0.368																																						dbGAP											0													233.0	202.0	211.0					4																	144545427		692	1591	2283	-	-	-	SO:0001583	missense	0			BX091796	CCDS54808.1	4q31.21	2011-06-09			ENSG00000183090	ENSG00000183090			25172	protein-coding gene	gene with protein product		608946				15345741	Standard	NM_001168235		Approved		uc021xsj.1	P0C091	OTTHUMG00000161577	ENST00000329798.5:c.5487G>T	4.37:g.144545427C>A	ENSP00000332886:p.Gln1829His	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.Q1829H	ENST00000329798.5	37	c.5487	CCDS54808.1	4	.	.	.	.	.	.	.	.	.	.	C	13.55	2.271084	0.40194	.	.	ENSG00000183090	ENST00000329798	T	0.27720	1.65	4.07	1.32	0.21799	.	0.376195	0.24508	N	0.037920	T	0.41834	0.1176	M	0.84219	2.685	0.33409	D	0.578378	.	.	.	.	.	.	T	0.49844	-0.8896	8	0.39692	T	0.17	0.0152	5.4771	0.16702	0.1597:0.6586:0.0:0.1816	.	.	.	.	H	1829	ENSP00000332886:Q1829H	ENSP00000332886:Q1829H	Q	-	3	2	FREM3	144764877	0.998000	0.40836	0.000000	0.03702	0.786000	0.44442	0.621000	0.24418	0.040000	0.15660	0.650000	0.86243	CAG	FREM3	-	pfam_Calx_beta,smart_Calx_beta	ENSG00000183090		0.368	FREM3-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	FREM3	HGNC	protein_coding	OTTHUMT00000365391.1	172	0.00	0	C	XM_094074		144545427	144545427	-1	no_errors	ENST00000329798	ensembl	human	putative	69_37n	missense	125	19.35	30	SNP	1.000	A
FREM3	166752	genome.wustl.edu	37	4	144618883	144618883	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:144618883C>G	ENST00000329798.5	-	1	2945	c.2946G>C	c.(2944-2946)ttG>ttC	p.L982F	RP13-578N3.3_ENST00000499587.2_RNA	NM_001168235.1	NP_001161707.1	P0C091	FREM3_HUMAN	FRAS1 related extracellular matrix 3	982					cell adhesion (GO:0007155)|cell communication (GO:0007154)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|prostate(1)	8						AAGACAGCATCAAGTCACCTA	0.428																																						dbGAP											0													111.0	96.0	101.0					4																	144618883		692	1591	2283	-	-	-	SO:0001583	missense	0			BX091796	CCDS54808.1	4q31.21	2011-06-09			ENSG00000183090	ENSG00000183090			25172	protein-coding gene	gene with protein product		608946				15345741	Standard	NM_001168235		Approved		uc021xsj.1	P0C091	OTTHUMG00000161577	ENST00000329798.5:c.2946G>C	4.37:g.144618883C>G	ENSP00000332886:p.Leu982Phe	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.L982F	ENST00000329798.5	37	c.2946	CCDS54808.1	4	.	.	.	.	.	.	.	.	.	.	C	6.404	0.442659	0.12164	.	.	ENSG00000183090	ENST00000329798	T	0.51071	0.72	4.0	1.09	0.20402	.	0.412228	0.20736	N	0.086631	T	0.51975	0.1706	M	0.74647	2.275	0.37442	D	0.914473	.	.	.	.	.	.	T	0.53251	-0.8465	8	0.54805	T	0.06	-1.0878	4.08	0.09922	0.1639:0.5361:0.0:0.3	.	.	.	.	F	982	ENSP00000332886:L982F	ENSP00000332886:L982F	L	-	3	2	FREM3	144838333	0.026000	0.19158	0.011000	0.14972	0.558000	0.35554	-0.598000	0.05706	0.068000	0.16574	0.655000	0.94253	TTG	FREM3	-	NULL	ENSG00000183090		0.428	FREM3-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	FREM3	HGNC	protein_coding	OTTHUMT00000365391.1	51	0.00	0	C	XM_094074		144618883	144618883	-1	no_errors	ENST00000329798	ensembl	human	putative	69_37n	missense	49	19.67	12	SNP	0.787	G
FRMD3	257019	genome.wustl.edu	37	9	85862997	85862997	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:85862997G>T	ENST00000304195.3	-	14	1836	c.1630C>A	c.(1630-1632)Ccc>Acc	p.P544T	FRMD3_ENST00000376434.1_Missense_Mutation_p.P350T|FRMD3_ENST00000328788.1_Missense_Mutation_p.P201T|FRMD3_ENST00000465485.1_5'UTR|FRMD3_ENST00000376438.1_Missense_Mutation_p.P544T	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	544						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						AGGAGCAGGGGAAATACAAAG	0.493																																						dbGAP											0													56.0	60.0	59.0					9																	85862997		1936	4139	6075	-	-	-	SO:0001583	missense	0			AK094281	CCDS43840.1, CCDS59131.1, CCDS59132.1, CCDS59133.1, CCDS75852.1	9q21.33	2008-02-05			ENSG00000172159	ENSG00000172159			24125	protein-coding gene	gene with protein product		607619				12601556	Standard	NM_174938		Approved	EPB41L4O, MGC20553	uc004ams.2	A2A2Y4	OTTHUMG00000020103	ENST00000304195.3:c.1630C>A	9.37:g.85862997G>T	ENSP00000303508:p.Pro544Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MQB0|B4DN14|Q53EP2|Q5JV59|Q5VZA1|Q86WP8|Q8IZ44|Q8N3Y5|Q8N9L2	Missense_Mutation	SNP	pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin	p.P544T	ENST00000304195.3	37	c.1630	CCDS43840.1	9	.	.	.	.	.	.	.	.	.	.	G	20.6	4.013171	0.75161	.	.	ENSG00000172159	ENST00000376438;ENST00000376434;ENST00000328788;ENST00000304195	D;D;T;D	0.87729	-1.85;-2.29;0.09;-1.83	5.69	5.69	0.88448	.	0.051537	0.85682	D	0.000000	D	0.90769	0.7102	M	0.63843	1.955	0.80722	D	1	P;P;D	0.61080	0.915;0.939;0.989	B;P;P	0.55923	0.419;0.528;0.787	D	0.88249	0.2915	10	0.27785	T	0.31	.	19.8154	0.96566	0.0:0.0:1.0:0.0	.	544;544;201	A2A2Y4;A2A2Y4-2;A2A2Y4-4	FRMD3_HUMAN;.;.	T	544;350;201;544	ENSP00000365621:P544T;ENSP00000365617:P350T;ENSP00000328615:P201T;ENSP00000303508:P544T	ENSP00000303508:P544T	P	-	1	0	FRMD3	85052817	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.077000	0.94016	2.699000	0.92147	0.655000	0.94253	CCC	FRMD3	-	NULL	ENSG00000172159		0.493	FRMD3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMD3	HGNC	protein_coding	OTTHUMT00000157355.1	40	0.00	0	G	NM_174938		85862997	85862997	-1	no_errors	ENST00000304195	ensembl	human	known	69_37n	missense	49	24.62	16	SNP	1.000	T
FRMD3	257019	genome.wustl.edu	37	9	85863082	85863082	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:85863082C>T	ENST00000304195.3	-	14	1751	c.1545G>A	c.(1543-1545)ctG>ctA	p.L515L	FRMD3_ENST00000376434.1_Silent_p.L321L|FRMD3_ENST00000328788.1_Silent_p.L172L|FRMD3_ENST00000465485.1_5'UTR|FRMD3_ENST00000376438.1_Silent_p.L515L	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	515						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						TATGGCCAGTCAGAATGTCAT	0.522																																						dbGAP											0													73.0	76.0	75.0					9																	85863082		1967	4174	6141	-	-	-	SO:0001819	synonymous_variant	0			AK094281	CCDS43840.1, CCDS59131.1, CCDS59132.1, CCDS59133.1, CCDS75852.1	9q21.33	2008-02-05			ENSG00000172159	ENSG00000172159			24125	protein-coding gene	gene with protein product		607619				12601556	Standard	NM_174938		Approved	EPB41L4O, MGC20553	uc004ams.2	A2A2Y4	OTTHUMG00000020103	ENST00000304195.3:c.1545G>A	9.37:g.85863082C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MQB0|B4DN14|Q53EP2|Q5JV59|Q5VZA1|Q86WP8|Q8IZ44|Q8N3Y5|Q8N9L2	Silent	SNP	pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin	p.L515	ENST00000304195.3	37	c.1545	CCDS43840.1	9																																																																																			FRMD3	-	NULL	ENSG00000172159		0.522	FRMD3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMD3	HGNC	protein_coding	OTTHUMT00000157355.1	54	0.00	0	C	NM_174938		85863082	85863082	-1	no_errors	ENST00000304195	ensembl	human	known	69_37n	silent	53	28.00	21	SNP	1.000	T
FRMD4B	23150	genome.wustl.edu	37	3	69236982	69236982	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:69236982C>G	ENST00000398540.3	-	19	1941	c.1858G>C	c.(1858-1860)Gag>Cag	p.E620Q	FRMD4B_ENST00000478263.1_Missense_Mutation_p.E272Q|FRMD4B_ENST00000542259.1_Missense_Mutation_p.E566Q	NM_015123.1	NP_055938	Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	620					establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|ruffle (GO:0001726)				NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		TGGATTCGCTCAATACCAAGA	0.448																																						dbGAP											0													81.0	76.0	78.0					3																	69236982		1900	4107	6007	-	-	-	SO:0001583	missense	0			AL832231	CCDS46863.1	3p14.2	2006-04-12			ENSG00000114541	ENSG00000114541			24886	protein-coding gene	gene with protein product						10231032, 11445584	Standard	XM_005264720		Approved	KIAA1013, GRSP1	uc003dnv.2	Q9Y2L6	OTTHUMG00000158772	ENST00000398540.3:c.1858G>C	3.37:g.69236982C>G	ENSP00000381549:p.Glu620Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TAI3	Missense_Mutation	SNP	pfam_DUF3338,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,pfscan_FERM_domain	p.E620Q	ENST00000398540.3	37	c.1858	CCDS46863.1	3	.	.	.	.	.	.	.	.	.	.	C	17.59	3.426718	0.62733	.	.	ENSG00000114541	ENST00000398540;ENST00000542259;ENST00000478263	D;D	0.84516	-1.86;-1.84	6.02	6.02	0.97574	.	0.117342	0.53938	D	0.000044	D	0.86318	0.5904	M	0.61703	1.905	0.39432	D	0.967093	D;P	0.53151	0.958;0.86	P;B	0.45276	0.475;0.321	D	0.85471	0.1173	10	0.35671	T	0.21	-19.3809	20.5269	0.99230	0.0:1.0:0.0:0.0	.	464;620	B4DHD5;Q9Y2L6	.;FRM4B_HUMAN	Q	620;566;272	ENSP00000381549:E620Q;ENSP00000437658:E566Q	ENSP00000381549:E620Q	E	-	1	0	FRMD4B	69319672	1.000000	0.71417	0.995000	0.50966	0.944000	0.59088	4.464000	0.60134	2.859000	0.98148	0.591000	0.81541	GAG	FRMD4B	-	NULL	ENSG00000114541		0.448	FRMD4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMD4B	HGNC	protein_coding	OTTHUMT00000352111.1	76	0.00	0	C			69236982	69236982	-1	no_errors	ENST00000398540	ensembl	human	known	69_37n	missense	82	16.22	18	SNP	0.999	G
FRMPD4	9758	genome.wustl.edu	37	X	12736042	12736042	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:12736042G>A	ENST00000380682.1	+	16	3603	c.3097G>A	c.(3097-3099)Gat>Aat	p.D1033N		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1033					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CAAGCTGGCCGATGGTGAGGG	0.507																																						dbGAP											0													100.0	84.0	89.0					X																	12736042		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.3097G>A	X.37:g.12736042G>A	ENSP00000370057:p.Asp1033Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0X9|O15032	Missense_Mutation	SNP	pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_Rsp5_WWP	p.D1033N	ENST00000380682.1	37	c.3097	CCDS35201.1	X	.	.	.	.	.	.	.	.	.	.	G	10.72	1.431135	0.25726	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.07021	3.23	5.36	3.51	0.40186	.	0.349554	0.31922	N	0.006843	T	0.10252	0.0251	L	0.57536	1.79	0.21105	N	0.999782	B;B	0.10296	0.003;0.003	B;B	0.09377	0.004;0.004	T	0.19160	-1.0314	10	0.72032	D	0.01	-5.3867	10.0117	0.41990	0.1767:0.0:0.8233:0.0	.	1025;1033	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	N	1033;1024;1022	ENSP00000370057:D1033N	ENSP00000304583:D1022N	D	+	1	0	FRMPD4	12645963	0.990000	0.36364	0.307000	0.25127	0.665000	0.39181	3.536000	0.53582	0.400000	0.25396	0.513000	0.50165	GAT	FRMPD4	-	NULL	ENSG00000169933		0.507	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMPD4	HGNC	protein_coding	OTTHUMT00000055771.1	61	0.00	0	G	XM_045712		12736042	12736042	+1	no_errors	ENST00000380682	ensembl	human	known	69_37n	missense	46	23.33	14	SNP	0.736	A
FRYL	285527	genome.wustl.edu	37	4	48517136	48517136	+	Missense_Mutation	SNP	C	C	T	rs545267489		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:48517136C>T	ENST00000503238.1	-	53	7845	c.7846G>A	c.(7846-7848)Gag>Aag	p.E2616K	FRYL_ENST00000507873.2_Missense_Mutation_p.E12K|FRYL_ENST00000358350.4_Missense_Mutation_p.E2616K|FRYL_ENST00000264319.7_Missense_Mutation_p.E12K|FRYL_ENST00000537810.1_Missense_Mutation_p.E2616K			O94915	FRYL_HUMAN	FRY-like	2616					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CAGACTGACTCGGGGTAACTT	0.418													C|||	1	0.000199681	0.0	0.0	5008	,	,		18883	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													155.0	141.0	146.0					4																	48517136		1864	4106	5970	-	-	-	SO:0001583	missense	0			AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.7846G>A	4.37:g.48517136C>T	ENSP00000426064:p.Glu2616Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E2616K	ENST00000503238.1	37	c.7846	CCDS43227.1	4	.	.	.	.	.	.	.	.	.	.	C	15.18	2.756226	0.49362	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000264319;ENST00000507873	T;T;T	0.24350	1.9;1.9;1.86	5.96	5.96	0.96718	.	1.345490	0.05405	U	0.541357	T	0.31358	0.0794	L	0.50333	1.59	0.43527	D	0.995805	B;B;B	0.26258	0.089;0.145;0.122	B;B;B	0.23275	0.018;0.04;0.045	T	0.48364	-0.9042	10	0.08837	T	0.75	.	20.394	0.98981	0.0:1.0:0.0:0.0	.	2616;2616;12	O94915;F5GX82;O94915-2	FRYL_HUMAN;.;.	K	2616;2616;2616;12;12	ENSP00000426064:E2616K;ENSP00000351113:E2616K;ENSP00000441114:E2616K	ENSP00000264319:E12K	E	-	1	0	FRYL	48211893	1.000000	0.71417	0.738000	0.30950	0.265000	0.26407	6.400000	0.73252	2.830000	0.97506	0.585000	0.79938	GAG	FRYL	-	NULL	ENSG00000075539		0.418	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRYL	HGNC	protein_coding	OTTHUMT00000369265.2	129	0.00	0	C			48517136	48517136	-1	no_errors	ENST00000358350	ensembl	human	known	69_37n	missense	80	21.57	22	SNP	0.998	T
FRYL	285527	genome.wustl.edu	37	4	48523130	48523130	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:48523130G>C	ENST00000503238.1	-	52	7623	c.7624C>G	c.(7624-7626)Caa>Gaa	p.Q2542E	FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000358350.4_Missense_Mutation_p.Q2542E|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000537810.1_Missense_Mutation_p.Q2542E			O94915	FRYL_HUMAN	FRY-like	2542					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TCCCTGATTTGAAGCACTTCC	0.493																																						dbGAP											0													111.0	107.0	108.0					4																	48523130		1883	4121	6004	-	-	-	SO:0001583	missense	0			AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.7624C>G	4.37:g.48523130G>C	ENSP00000426064:p.Gln2542Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	O95640|Q8WTZ5|Q9NT40	Nonsense_Mutation	SNP	superfamily_ARM-type_fold	p.S1411*	ENST00000503238.1	37	c.4232	CCDS43227.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.038|0.038	-1.296026|-1.296026	0.01375|0.01375	.|.	.|.	ENSG00000075539|ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810|ENST00000514617	T;T;T|.	0.21361|.	2.01;2.01;2.01|.	5.79|5.79	4.94|4.94	0.65067|0.65067	.|.	1.133540|.	0.06278|.	N|.	0.696815|.	T|.	0.67230|.	0.2871|.	L|L	0.47716|0.47716	1.5|1.5	0.58432|0.58432	D|D	0.999999|0.999999	B;B;B|.	0.17038|.	0.02;0.002;0.004|.	B;B;B|.	0.18871|.	0.016;0.008;0.023|.	T|.	0.64803|.	-0.6321|.	10|.	0.02654|.	T|.	1|.	.|.	16.7656|16.7656	0.85523|0.85523	0.0:0.1293:0.8707:0.0|0.0:0.1293:0.8707:0.0	.|.	1372;2542;2542|.	Q6ZR29;O94915;F5GX82|.	.;FRYL_HUMAN;.|.	E|X	2542|1411	ENSP00000426064:Q2542E;ENSP00000351113:Q2542E;ENSP00000441114:Q2542E|.	ENSP00000351113:Q2542E|.	Q|S	-|-	1|2	0|0	FRYL|FRYL	48217887|48217887	1.000000|1.000000	0.71417|0.71417	0.009000|0.009000	0.14445|0.14445	0.003000|0.003000	0.03518|0.03518	6.603000|6.603000	0.74145|0.74145	1.420000|1.420000	0.47138|0.47138	0.563000|0.563000	0.77884|0.77884	CAA|TCA	FRYL	-	NULL	ENSG00000075539		0.493	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRYL	HGNC	protein_coding	OTTHUMT00000369265.2	121	0.00	0	G			48523130	48523130	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000514617	ensembl	human	novel	69_37n	nonsense	98	19.01	23	SNP	0.104	C
FRYL	285527	genome.wustl.edu	37	4	48607770	48607770	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:48607770G>C	ENST00000503238.1	-	8	821	c.822C>G	c.(820-822)atC>atG	p.I274M	FRYL_ENST00000358350.4_Missense_Mutation_p.I274M|FRYL_ENST00000264319.7_De_novo_Start_InFrame|FRYL_ENST00000507711.1_Missense_Mutation_p.I274M|FRYL_ENST00000537810.1_Missense_Mutation_p.I274M|FRYL_ENST00000506685.1_De_novo_Start_InFrame			O94915	FRYL_HUMAN	FRY-like	274					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CAGCTACAGGGATAAGAATCT	0.303																																						dbGAP											0													110.0	112.0	111.0					4																	48607770		1825	4088	5913	-	-	-	SO:0001583	missense	0			AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.822C>G	4.37:g.48607770G>C	ENSP00000426064:p.Ile274Met	Somatic		WXS	Illumina GAIIx	Phase_IV	O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.I274M	ENST00000503238.1	37	c.822	CCDS43227.1	4	.	.	.	.	.	.	.	.	.	.	G	16.68	3.190576	0.58017	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.12	5.63	-0.0987	0.13627	Armadillo-type fold (1);	0.000000	0.64402	U	0.000002	T	0.59555	0.2202	N	0.22421	0.69	0.80722	D	1	P;D	0.55605	0.857;0.972	P;P	0.57425	0.529;0.82	T	0.57365	-0.7824	10	0.59425	D	0.04	.	6.4858	0.22087	0.4528:0.0:0.4331:0.114	.	274;274	F2Z2S2;O94915	.;FRYL_HUMAN	M	274	ENSP00000426064:I274M;ENSP00000351113:I274M;ENSP00000441114:I274M;ENSP00000421584:I274M	ENSP00000351113:I274M	I	-	3	3	FRYL	48302527	0.997000	0.39634	0.998000	0.56505	0.981000	0.71138	0.409000	0.21082	0.073000	0.16731	-0.339000	0.08088	ATC	FRYL	-	superfamily_ARM-type_fold	ENSG00000075539		0.303	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRYL	HGNC	protein_coding	OTTHUMT00000369265.2	129	0.00	0	G			48607770	48607770	-1	no_errors	ENST00000358350	ensembl	human	known	69_37n	missense	74	26.00	26	SNP	0.850	C
FSD1L	83856	genome.wustl.edu	37	9	108246676	108246676	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:108246676C>T	ENST00000481272.1	+	7	598	c.479C>T	c.(478-480)tCa>tTa	p.S160L	FSD1L_ENST00000480279.1_3'UTR|FSD1L_ENST00000539376.1_Missense_Mutation_p.S3L|FSD1L_ENST00000394926.3_Missense_Mutation_p.S128L|FSD1L_ENST00000374710.3_Missense_Mutation_p.S128L|FSD1L_ENST00000495708.1_Missense_Mutation_p.S160L|FSD1L_ENST00000484973.1_Missense_Mutation_p.S128L	NM_001145313.1	NP_001138785.1	Q9BXM9	FSD1L_HUMAN	fibronectin type III and SPRY domain containing 1-like	160	COS. {ECO:0000255|PROSITE- ProRule:PRU00586}.									NS(1)|endometrium(1)	2						ACAATGGCTTCAGCCTTTCGC	0.318																																						dbGAP											0													75.0	65.0	68.0					9																	108246676		692	1591	2283	-	-	-	SO:0001583	missense	0			AF316830	CCDS6765.2, CCDS47999.1, CCDS6765.3, CCDS75870.1	9q31	2013-02-11	2006-03-10	2006-03-10	ENSG00000106701	ENSG00000106701		"""Fibronectin type III domain containing"""	13753	protein-coding gene	gene with protein product		609829	"""cystatin and DUF19 domain containing 1"", ""coiled-coil domain containing 10"""	CSDUFD1, CCDC10, FSD1NL, FSD1CL		11267680	Standard	XM_005252254		Approved		uc004bcq.2	Q9BXM9	OTTHUMG00000020426	ENST00000481272.1:c.479C>T	9.37:g.108246676C>T	ENSP00000417492:p.Ser160Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A338|A6NKH7|B7Z5S6|B7Z5W3|Q5T879|Q5T880	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,prints_Butyrophylin	p.S3L	ENST00000481272.1	37	c.8	CCDS47999.1	9	.	.	.	.	.	.	.	.	.	.	C	19.78	3.890945	0.72524	.	.	ENSG00000106701	ENST00000495708;ENST00000374710;ENST00000481272;ENST00000484973;ENST00000394926;ENST00000539376	T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97	5.05	5.05	0.67936	COS domain (1);	0.240370	0.27411	U	0.019488	T	0.34658	0.0905	L	0.36672	1.1	0.41796	D	0.989896	B;B;B	0.28439	0.2;0.212;0.2	B;B;B	0.30572	0.117;0.079;0.117	T	0.13150	-1.0520	10	0.08179	T	0.78	.	18.3493	0.90333	0.0:1.0:0.0:0.0	.	128;160;128	F8W946;Q9BXM9;Q9BXM9-2	.;FSD1L_HUMAN;.	L	160;128;160;128;128;3	ENSP00000420624:S160L;ENSP00000363842:S128L;ENSP00000417492:S160L;ENSP00000419691:S128L;ENSP00000378384:S128L;ENSP00000438140:S3L	ENSP00000363842:S128L	S	+	2	0	FSD1L	107286497	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.202000	0.77856	2.513000	0.84729	0.650000	0.86243	TCA	FSD1L	-	NULL	ENSG00000106701		0.318	FSD1L-007	NOVEL	basic|CCDS	protein_coding	FSD1L	HGNC	protein_coding	OTTHUMT00000349935.1	53	0.00	0	C	NM_207647		108246676	108246676	+1	no_errors	ENST00000539376	ensembl	human	known	69_37n	missense	76	17.39	16	SNP	1.000	T
FSD1L	83856	genome.wustl.edu	37	9	108270913	108270913	+	Nonsense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:108270913C>G	ENST00000481272.1	+	9	931	c.812C>G	c.(811-813)tCa>tGa	p.S271*	FSD1L_ENST00000539376.1_Nonsense_Mutation_p.S114*|FSD1L_ENST00000394926.3_Nonsense_Mutation_p.S239*|FSD1L_ENST00000374710.3_Nonsense_Mutation_p.S239*|FSD1L_ENST00000495708.1_Nonsense_Mutation_p.S271*|FSD1L_ENST00000484973.1_Nonsense_Mutation_p.S239*|FSD1L_ENST00000374707.1_Nonsense_Mutation_p.S52*	NM_001145313.1	NP_001138785.1	Q9BXM9	FSD1L_HUMAN	fibronectin type III and SPRY domain containing 1-like	271	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.									NS(1)|endometrium(1)	2						AAATTTGATTCAAAGTATATG	0.393																																						dbGAP											0													148.0	128.0	134.0					9																	108270913		692	1591	2283	-	-	-	SO:0001587	stop_gained	0			AF316830	CCDS6765.2, CCDS47999.1, CCDS6765.3, CCDS75870.1	9q31	2013-02-11	2006-03-10	2006-03-10	ENSG00000106701	ENSG00000106701		"""Fibronectin type III domain containing"""	13753	protein-coding gene	gene with protein product		609829	"""cystatin and DUF19 domain containing 1"", ""coiled-coil domain containing 10"""	CSDUFD1, CCDC10, FSD1NL, FSD1CL		11267680	Standard	XM_005252254		Approved		uc004bcq.2	Q9BXM9	OTTHUMG00000020426	ENST00000481272.1:c.812C>G	9.37:g.108270913C>G	ENSP00000417492:p.Ser271*	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A338|A6NKH7|B7Z5S6|B7Z5W3|Q5T879|Q5T880	Nonsense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,prints_Butyrophylin	p.S114*	ENST00000481272.1	37	c.341	CCDS47999.1	9	.	.	.	.	.	.	.	.	.	.	C	41	9.114852	0.99069	.	.	ENSG00000106701	ENST00000495708;ENST00000374710;ENST00000481272;ENST00000484973;ENST00000394926;ENST00000539376;ENST00000374707	.	.	.	5.09	5.09	0.68999	.	0.171964	0.38778	N	0.001566	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	18.5045	0.90892	0.0:1.0:0.0:0.0	.	.	.	.	X	271;239;271;239;239;114;52	.	ENSP00000363839:S52X	S	+	2	0	FSD1L	107310734	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.215000	0.58534	2.351000	0.79841	0.561000	0.74099	TCA	FSD1L	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000106701		0.393	FSD1L-007	NOVEL	basic|CCDS	protein_coding	FSD1L	HGNC	protein_coding	OTTHUMT00000349935.1	134	0.00	0	C	NM_207647		108270913	108270913	+1	no_errors	ENST00000539376	ensembl	human	known	69_37n	nonsense	115	15.44	21	SNP	1.000	G
FTO	79068	genome.wustl.edu	37	16	53922804	53922804	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:53922804G>A	ENST00000471389.1	+	7	1402	c.1180G>A	c.(1180-1182)Gac>Aac	p.D394N	FTO_ENST00000394647.3_Missense_Mutation_p.D98N|FTO_ENST00000431610.2_5'UTR|FTO_ENST00000460382.1_5'UTR	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	394					adipose tissue development (GO:0060612)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|oxidative demethylation (GO:0070989)|oxidative single-stranded DNA demethylation (GO:0035552)|oxidative single-stranded RNA demethylation (GO:0035553)|regulation of lipid storage (GO:0010883)|regulation of multicellular organism growth (GO:0040014)|regulation of respiratory system process (GO:0044065)|regulation of white fat cell proliferation (GO:0070350)|RNA repair (GO:0042245)|temperature homeostasis (GO:0001659)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)|oxidative DNA demethylase activity (GO:0035516)|oxidative RNA demethylase activity (GO:0035515)			endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						AAAGTGCACTGACTGGTGGTG	0.498																																						dbGAP											0													282.0	253.0	263.0					16																	53922804		2198	4300	6498	-	-	-	SO:0001583	missense	0			BC003583	CCDS32448.1	16q12.2	2013-11-15			ENSG00000140718	ENSG00000140718		"""Alkylation repair homologs"""	24678	protein-coding gene	gene with protein product	"""AlkB homolog 9"", ""alpha-ketoglutarate-dependent dioxygenase"""	610966				17434869, 17991826, 22002720	Standard	NM_001080432		Approved	KIAA1752, MGC5149, ALKBH9	uc002ehr.3	Q9C0B1	OTTHUMG00000158780	ENST00000471389.1:c.1180G>A	16.37:g.53922804G>A	ENSP00000418823:p.Asp394Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RUH1|B2RNS0|Q0P676|Q7Z785	Missense_Mutation	SNP	NULL	p.D394N	ENST00000471389.1	37	c.1180	CCDS32448.1	16	.	.	.	.	.	.	.	.	.	.	G	23.6	4.440670	0.83993	.	.	ENSG00000140718	ENST00000471389;ENST00000394647	T;T	0.47177	0.85;0.85	5.84	5.84	0.93424	Alpha-ketoglutarate-dependent dioxygenase FTO, C-terminal (1);	0.151184	0.64402	D	0.000008	T	0.61899	0.2384	M	0.63428	1.95	0.40645	D	0.981987	D	0.64830	0.994	D	0.66716	0.946	T	0.62238	-0.6896	10	0.45353	T	0.12	0.3191	10.5203	0.44914	0.1431:0.0:0.8569:0.0	.	394	Q9C0B1	FTO_HUMAN	N	394;98	ENSP00000418823:D394N;ENSP00000378142:D98N	ENSP00000378142:D98N	D	+	1	0	FTO	52480305	1.000000	0.71417	0.416000	0.26546	0.982000	0.71751	4.413000	0.59795	2.764000	0.94973	0.650000	0.86243	GAC	FTO	-	NULL	ENSG00000140718		0.498	FTO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FTO	HGNC	protein_coding	OTTHUMT00000352196.1	147	0.00	0	G	NM_001080432		53922804	53922804	+1	no_errors	ENST00000471389	ensembl	human	known	69_37n	missense	103	28.47	41	SNP	0.899	A
DDX42	11325	genome.wustl.edu	37	17	61897486	61897486	+	IGR	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:61897486C>T	ENST00000578681.1	+	0	4337				FTSJ3_ENST00000427159.2_Silent_p.V768V	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42						protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						CCACTGTGTTCACCACGGCTT	0.557																																						dbGAP											0													194.0	181.0	185.0					17																	61897486		2203	4300	6503	-	-	-	SO:0001628	intergenic_variant	0			BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"""DEAD-boxes"""	18676	protein-coding gene	gene with protein product	"""splicing factor 3b, subunit 8"""	613369	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"""			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3			17.37:g.61897486C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Silent	SNP	pfam_rRNA_MeTfrase_Spb1_C,pfam_rRNA_MeTrfase_FtsJ_dom,pfam_rRNA_MeTfrase_Spb1_DUF3381	p.V768	ENST00000578681.1	37	c.2304	CCDS32704.1	17																																																																																			FTSJ3	-	pfam_rRNA_MeTfrase_Spb1_C	ENSG00000108592		0.557	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FTSJ3	HGNC	protein_coding	OTTHUMT00000444368.1	144	0.00	0	C	NM_007372		61897486	61897486	-1	no_errors	ENST00000427159	ensembl	human	known	69_37n	silent	216	11.11	27	SNP	0.999	T
PSMC5	5705	genome.wustl.edu	37	17	61901720	61901720	+	5'Flank	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:61901720C>G	ENST00000310144.6	+	0	0				FTSJ3_ENST00000580295.1_5'Flank|FTSJ3_ENST00000427159.2_Silent_p.L323L	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5						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 programmed cell death (GO:0043069)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|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)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|nuclear proteasome complex (GO:0031595)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|thyrotropin-releasing hormone receptor binding (GO:0031531)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						CTTGTTCTTTCAGCTTCTTGG	0.512																																						dbGAP											0													251.0	211.0	225.0					17																	61901720		2203	4300	6503	-	-	-	SO:0001631	upstream_gene_variant	0			L38810	CCDS11645.1, CCDS56043.1	17q23.3	2010-04-21			ENSG00000087191	ENSG00000087191		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9552	protein-coding gene	gene with protein product		601681				9473509, 9048938	Standard	NM_002805		Approved	SUG1, p45/SUG, TBP10, p45, S8, TRIP1, SUG-1	uc002jcb.3	P62195			17.37:g.61901720C>G	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3Z3|A8K763|O35051|O43208|P47210|P52915|P52916	Silent	SNP	pfam_rRNA_MeTfrase_Spb1_C,pfam_rRNA_MeTrfase_FtsJ_dom,pfam_rRNA_MeTfrase_Spb1_DUF3381	p.L323	ENST00000310144.6	37	c.969	CCDS11645.1	17																																																																																			FTSJ3	-	pfam_rRNA_MeTfrase_Spb1_DUF3381	ENSG00000108592		0.512	PSMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FTSJ3	HGNC	protein_coding	OTTHUMT00000444404.1	221	0.00	0	C	NM_002805		61901720	61901720	-1	no_errors	ENST00000427159	ensembl	human	known	69_37n	silent	388	13.91	63	SNP	1.000	G
CMTR2	55783	genome.wustl.edu	37	16	71319328	71319328	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:71319328G>A	ENST00000338099.5	-	3	832	c.496C>T	c.(496-498)Cat>Tat	p.H166Y	CMTR2_ENST00000434935.2_Missense_Mutation_p.H166Y			Q8IYT2	CMTR2_HUMAN	cap methyltransferase 2	166	Adrift-type SAM-dependent 2'-O-MTase. {ECO:0000255|PROSITE-ProRule:PRU00946}.				7-methylguanosine mRNA capping (GO:0006370)|cap2 mRNA methylation (GO:0097310)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)										CAACTCCAATGACAAGGAAAC	0.413																																						dbGAP											0													130.0	125.0	126.0					16																	71319328		2198	4300	6498	-	-	-	SO:0001583	missense	0			BC035005	CCDS10898.1	16q22.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000180917	ENSG00000180917			25635	protein-coding gene	gene with protein product	"""adrift homolog (Drosophila)"""		"""FtsJ methyltransferase domain containing 1"""	FTSJD1		21310715	Standard	NM_018348		Approved	FLJ11171, AFT, MTr2	uc010cga.3	Q8IYT2	OTTHUMG00000137587	ENST00000338099.5:c.496C>T	16.37:g.71319328G>A	ENSP00000337512:p.His166Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCD5|D3DWS1|Q8NE77|Q8NFR5|Q9H8Z4|Q9NUS3|Q9NXF5	Missense_Mutation	SNP	pfam_rRNA_MeTrfase_FtsJ_dom	p.H166Y	ENST00000338099.5	37	c.496	CCDS10898.1	16	.	.	.	.	.	.	.	.	.	.	G	11.50	1.657916	0.29425	.	.	ENSG00000180917	ENST00000338099;ENST00000434935	T;T	0.42513	0.97;0.97	5.56	4.61	0.57282	Ribosomal RNA methyltransferase RrmJ/FtsJ (1);	0.205937	0.49305	D	0.000154	T	0.30947	0.0781	N	0.12182	0.205	0.22666	N	0.998877	B	0.25563	0.129	B	0.31869	0.137	T	0.36187	-0.9758	10	0.62326	D	0.03	-40.8509	15.4684	0.75422	0.0:0.7361:0.2638:0.0	.	166	Q8IYT2	FTSJ1_HUMAN	Y	166	ENSP00000337512:H166Y;ENSP00000411148:H166Y	ENSP00000337512:H166Y	H	-	1	0	FTSJD1	69876829	1.000000	0.71417	0.998000	0.56505	0.917000	0.54804	4.727000	0.61993	1.356000	0.45884	-0.234000	0.12200	CAT	FTSJD1	-	pfam_rRNA_MeTrfase_FtsJ_dom	ENSG00000180917		0.413	CMTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FTSJD1	HGNC	protein_coding	OTTHUMT00000268984.2	43	0.00	0	G	NM_018348		71319328	71319328	-1	no_errors	ENST00000338099	ensembl	human	known	69_37n	missense	47	17.54	10	SNP	1.000	A
FUCA1	2517	genome.wustl.edu	37	1	24172288	24172288	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:24172288G>C	ENST00000374479.3	-	8	1325	c.1318C>G	c.(1318-1320)Ctc>Gtc	p.L440V		NM_000147.4	NP_000138.2	P04066	FUCO_HUMAN	fucosidase, alpha-L- 1, tissue	440					fucose metabolic process (GO:0006004)|glycosaminoglycan catabolic process (GO:0006027)|glycoside catabolic process (GO:0016139)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-L-fucosidase activity (GO:0004560)|fucose binding (GO:0042806)			breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)		GAGATGAAGAGACCTTTATCT	0.443																																						dbGAP											0													117.0	113.0	114.0					1																	24172288		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC017338	CCDS244.2	1p34	2012-10-02			ENSG00000179163	ENSG00000179163	3.2.1.51		4006	protein-coding gene	gene with protein product		612280				2803312	Standard	NM_000147		Approved		uc001bie.3	P04066	OTTHUMG00000002965	ENST00000374479.3:c.1318C>G	1.37:g.24172288G>C	ENSP00000363603:p.Leu440Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBG3|Q14334|Q14335|Q3LID0|Q8NAC2	Missense_Mutation	SNP	pfam_Glyco_hydro_29,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_29,pirsf_Glyco_hydro_29_sub,prints_Glyco_hydro_29_sub	p.L440V	ENST00000374479.3	37	c.1318	CCDS244.2	1	.	.	.	.	.	.	.	.	.	.	G	7.226	0.598339	0.13939	.	.	ENSG00000179163	ENST00000374479;ENST00000374475	T	0.56611	0.45	5.46	2.41	0.29592	.	0.207958	0.43260	N	0.000584	T	0.37128	0.0992	L	0.35288	1.05	0.18873	N	0.999988	B	0.14012	0.009	B	0.14578	0.011	T	0.18935	-1.0321	10	0.25106	T	0.35	-4.4267	9.1655	0.37050	0.0:0.2702:0.4667:0.2631	.	440	P04066	FUCO_HUMAN	V	440;229	ENSP00000363603:L440V	ENSP00000363599:L229V	L	-	1	0	FUCA1	24044875	0.209000	0.23505	0.002000	0.10522	0.002000	0.02628	0.512000	0.22755	0.304000	0.22809	-0.172000	0.13284	CTC	FUCA1	-	pirsf_Glyco_hydro_29_sub	ENSG00000179163		0.443	FUCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUCA1	HGNC	protein_coding	OTTHUMT00000008259.2	82	0.00	0	G	NM_000147		24172288	24172288	-1	no_errors	ENST00000374479	ensembl	human	known	69_37n	missense	44	38.03	27	SNP	0.048	C
FUBP1	8880	genome.wustl.edu	37	1	78414917	78414917	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:78414917C>G	ENST00000370768.2	-	19	1930	c.1849G>C	c.(1849-1851)Gag>Cag	p.E617Q	FUBP1_ENST00000436586.2_Missense_Mutation_p.E638Q|FUBP1_ENST00000370767.1_Missense_Mutation_p.E617Q|FUBP1_ENST00000489495.1_5'Flank	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	617					positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|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)|single-stranded DNA binding (GO:0003697)	p.E617*(1)		central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						CTATAATACTCAGCCCAGGCT	0.483			"""F, N"""		oligodendroglioma																																	dbGAP		Rec	yes		1	1p13.1	8880	far upstream element (FUSE) binding protein 1		O	1	Substitution - Nonsense(1)	lung(1)											94.0	97.0	96.0					1																	78414917		2203	4300	6503	-	-	-	SO:0001583	missense	0			U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.1849G>C	1.37:g.78414917C>G	ENSP00000359804:p.Glu617Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q12828	Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_KH_dom_type_2,pfam_DUF1897,smart_KH_dom,pfscan_KH_dom_type_1	p.E638Q	ENST00000370768.2	37	c.1912	CCDS683.1	1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.960151	0.74016	.	.	ENSG00000162613	ENST00000370773;ENST00000370767;ENST00000370768;ENST00000394922;ENST00000436586	T;T;T	0.54279	0.58;0.6;0.66	5.94	5.94	0.96194	Domain of unknown function DUF1897 (1);	0.000000	0.85682	D	0.000000	T	0.69106	0.3074	M	0.72894	2.215	0.80722	D	1	D;D	0.62365	0.991;0.991	D;D	0.74023	0.982;0.982	T	0.68693	-0.5341	10	0.59425	D	0.04	-18.0027	20.352	0.98815	0.0:1.0:0.0:0.0	.	638;617	B4DT31;Q96AE4	.;FUBP1_HUMAN	Q	617;617;617;602;638	ENSP00000359803:E617Q;ENSP00000359804:E617Q;ENSP00000389536:E638Q	ENSP00000294623:E616Q	E	-	1	0	FUBP1	78187505	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	7.487000	0.81328	2.803000	0.96430	0.655000	0.94253	GAG	FUBP1	-	pfam_DUF1897	ENSG00000162613		0.483	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FUBP1	HGNC	protein_coding	OTTHUMT00000098030.3	109	0.00	0	C	NM_003902		78414917	78414917	-1	no_errors	ENST00000436586	ensembl	human	known	69_37n	missense	62	15.07	11	SNP	1.000	G
FXR1	8087	genome.wustl.edu	37	3	180693125	180693125	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:180693125G>A	ENST00000357559.4	+	16	2012	c.1628G>A	c.(1627-1629)aGa>aAa	p.R543K	FXR1_ENST00000468861.1_Intron|FXR1_ENST00000491062.1_Intron|FXR1_ENST00000480918.1_Missense_Mutation_p.R530K|FXR1_ENST00000305586.7_Missense_Mutation_p.R458K|FXR1_ENST00000445140.2_Intron	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	543					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of translation (GO:0017148)	costamere (GO:0043034)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysome (GO:0005844)	G-quadruplex RNA binding (GO:0002151)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			TATATTTCTAGAGCTGAGTCT	0.313																																						dbGAP											0													28.0	30.0	29.0					3																	180693125		2184	4295	6479	-	-	-	SO:0001583	missense	0			M67468	CCDS3238.1, CCDS33894.1, CCDS46965.1	3q28	2014-01-28			ENSG00000114416	ENSG00000114416			4023	protein-coding gene	gene with protein product		600819				7781595, 9642279	Standard	NM_005087		Approved		uc003fkq.3	P51114	OTTHUMG00000158138	ENST00000357559.4:c.1628G>A	3.37:g.180693125G>A	ENSP00000350170:p.Arg543Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9B8|Q7Z450|Q8N6R8	Missense_Mutation	SNP	pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet,superfamily_NA-bd_OB-fold-like,smart_KH_dom,pfscan_KH_dom_type_1	p.R543K	ENST00000357559.4	37	c.1628	CCDS3238.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.5|21.5	4.165218|4.165218	0.78339|0.78339	.|.	.|.	ENSG00000114416|ENSG00000114416	ENST00000482125|ENST00000357559;ENST00000305586;ENST00000480918	.|T;T;T	.|0.52754	.|0.89;0.73;0.65	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.64649|0.64649	0.2617|0.2617	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	.|D;P;P	.|0.64830	.|0.994;0.932;0.956	.|D;P;P	.|0.70716	.|0.97;0.867;0.899	T|T	0.64542|0.64542	-0.6383|-0.6383	5|10	.|0.66056	.|D	.|0.02	-20.6527|-20.6527	19.855|19.855	0.96755|0.96755	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|530;487;543	.|B4DXZ6;E7ERF5;P51114	.|.;.;FXR1_HUMAN	K|K	171|543;458;530	.|ENSP00000350170:R543K;ENSP00000307633:R458K;ENSP00000418097:R530K	.|ENSP00000307633:R458K	E|R	+|+	1|2	0|0	FXR1|FXR1	182175819|182175819	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.230000|9.230000	0.95299|0.95299	2.699000|2.699000	0.92147|0.92147	0.609000|0.609000	0.83330|0.83330	GAG|AGA	FXR1	-	NULL	ENSG00000114416		0.313	FXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FXR1	HGNC	protein_coding	OTTHUMT00000350265.5	88	0.00	0	G			180693125	180693125	+1	no_errors	ENST00000357559	ensembl	human	known	69_37n	missense	61	29.89	26	SNP	1.000	A
FXYD1	5348	genome.wustl.edu	37	19	35632070	35632070	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:35632070C>T	ENST00000588081.1	+	3	187	c.129C>T	c.(127-129)atC>atT	p.I43I	FXYD1_ENST00000589209.1_Silent_p.I43I|FXYD1_ENST00000351325.4_Silent_p.I43I|FXYD1_ENST00000588715.1_Silent_p.I43I|LGI4_ENST00000493050.1_Intron|FXYD7_ENST00000270310.2_5'Flank|FXYD1_ENST00000455515.2_Silent_p.I43I|CTD-2527I21.4_ENST00000592174.1_RNA|FXYD7_ENST00000586063.1_5'Flank|FXYD1_ENST00000588607.1_Silent_p.I43I|FXYD7_ENST00000588265.1_5'Flank			O00168	PLM_HUMAN	FXYD domain containing ion transport regulator 1	43					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|positive regulation of sodium ion export from cell (GO:1903278)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of heart contraction (GO:0008016)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)	chloride channel activity (GO:0005254)|ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)			lung(3)	3	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;2.32e-21)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;2.43e-18)|LUSC - Lung squamous cell carcinoma(66;0.0849)			GCCTCGTCATCGCCGGGATCC	0.627																																						dbGAP											0													98.0	73.0	82.0					19																	35632070		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS12445.1	19q13.1	2008-08-01	2008-08-01			ENSG00000266964			4025	protein-coding gene	gene with protein product		602359	"""phospholemman"""	PLM		9169143	Standard	NM_005031		Approved		uc002nyc.3	O00168		ENST00000588081.1:c.129C>T	19.37:g.35632070C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K196	Silent	SNP	pfam_Ion-transport_regulator_FXYD	p.I43	ENST00000588081.1	37	c.129	CCDS12445.1	19																																																																																			FXYD1	-	pfam_Ion-transport_regulator_FXYD	ENSG00000266964		0.627	FXYD1-007	KNOWN	alternative_3_UTR|upstream_ATG|basic|appris_principal|CCDS	protein_coding	FXYD1	HGNC	protein_coding	OTTHUMT00000460761.1	52	0.00	0	C	NM_021902		35632070	35632070	+1	no_errors	ENST00000351325	ensembl	human	known	69_37n	silent	51	17.74	11	SNP	0.008	T
G6PC2	57818	genome.wustl.edu	37	2	169757939	169757939	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:169757939G>T	ENST00000375363.3	+	1	190	c.98G>T	c.(97-99)gGa>gTa	p.G33V	SPC25_ENST00000472216.2_Intron|G6PC2_ENST00000421979.1_Missense_Mutation_p.G33V|G6PC2_ENST00000429379.2_Missense_Mutation_p.G33V	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN	glucose-6-phosphatase, catalytic, 2	33					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)			breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						TCCAATGTTGGAGACCCCAGG	0.378																																						dbGAP											0													130.0	131.0	131.0					2																	169757939		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF283575	CCDS2230.1, CCDS46443.1	2q24-q31	2008-02-05			ENSG00000152254	ENSG00000152254			28906	protein-coding gene	gene with protein product	"""islet specific glucose 6 phosphatase catalytic subunit related protein"""	608058				10078553, 10078554	Standard	NM_021176		Approved	IGRP	uc002uem.3	Q9NQR9	OTTHUMG00000132182	ENST00000375363.3:c.98G>T	2.37:g.169757939G>T	ENSP00000364512:p.Gly33Val	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PAX2|Q6AHZ0	Missense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase,pirsf_Glucose-6-phosphatase	p.G33V	ENST00000375363.3	37	c.98	CCDS2230.1	2	.	.	.	.	.	.	.	.	.	.	G	13.74	2.327941	0.41197	.	.	ENSG00000152254	ENST00000375363;ENST00000429379;ENST00000421979	T;T;D	0.84516	-1.26;-1.26;-1.86	5.62	5.62	0.85841	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.000000	0.64402	D	0.000004	D	0.90604	0.7054	M	0.61703	1.905	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.68192	0.956;0.956	D	0.91127	0.4934	10	0.72032	D	0.01	-18.0403	15.1557	0.72739	0.0:0.1408:0.8592:0.0	.	33;33	E9PAX2;Q9NQR9	.;G6PC2_HUMAN	V	33	ENSP00000364512:G33V;ENSP00000396939:G33V;ENSP00000392183:G33V	ENSP00000282075:G33V	G	+	2	0	G6PC2	169466185	1.000000	0.71417	1.000000	0.80357	0.411000	0.31082	4.158000	0.58150	2.634000	0.89283	0.655000	0.94253	GGA	G6PC2	-	superfamily_P_Acid_Pase_2/haloperoxidase,pirsf_Glucose-6-phosphatase	ENSG00000152254		0.378	G6PC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	G6PC2	HGNC	protein_coding	OTTHUMT00000255234.2	198	0.00	0	G	NM_021176		169757939	169757939	+1	no_errors	ENST00000375363	ensembl	human	known	69_37n	missense	161	20.69	42	SNP	0.997	T
FZD7	8324	genome.wustl.edu	37	2	202900866	202900866	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:202900866G>A	ENST00000286201.1	+	1	1557	c.1496G>A	c.(1495-1497)tGg>tAg	p.W499*	RP11-107N15.1_ENST00000608741.1_lincRNA	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled class receptor 7	499					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of ectodermal cell fate specification (GO:0042666)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of catenin import into nucleus (GO:0035412)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|stem cell maintenance (GO:0019827)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						CGCGAGCACTGGGAGCGCACC	0.647											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													52.0	50.0	51.0					2																	202900866		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB010881	CCDS2351.1	2q33	2014-01-29	2014-01-29		ENSG00000155760	ENSG00000155760		"""GPCR / Class F : Frizzled receptors"""	4045	protein-coding gene	gene with protein product		603410	"""frizzled (Drosophila) homolog 7"", ""frizzled homolog 7 (Drosophila)"", ""frizzled 7, seven transmembrane spanning receptor"", ""frizzled family receptor 7"""			9707618, 9813155	Standard	NM_003507		Approved	FzE3	uc002uyw.1	O75084	OTTHUMG00000132841	ENST00000286201.1:c.1496G>A	2.37:g.202900866G>A	ENSP00000286201:p.Trp499*	Somatic	2133	WXS	Illumina GAIIx	Phase_IV	O94816|Q53S59|Q96B74	Nonsense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.W499*	ENST00000286201.1	37	c.1496	CCDS2351.1	2	.	.	.	.	.	.	.	.	.	.	G	37	6.565620	0.97667	.	.	ENSG00000155760	ENST00000286201	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.8753	0.96867	0.0:0.0:1.0:0.0	.	.	.	.	X	499	.	ENSP00000286201:W499X	W	+	2	0	FZD7	202609111	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.711000	0.92665	0.655000	0.94253	TGG	FZD7	-	pfam_Frizzled,pfscan_GPCR_2-like	ENSG00000155760		0.647	FZD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD7	HGNC	protein_coding	OTTHUMT00000256314.1	15	0.00	0	G	NM_003507		202900866	202900866	+1	no_errors	ENST00000286201	ensembl	human	known	69_37n	nonsense	20	23.08	6	SNP	1.000	A
GAB2	9846	genome.wustl.edu	37	11	77930371	77930371	+	Missense_Mutation	SNP	C	C	G	rs201966341		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:77930371C>G	ENST00000361507.4	-	10	2063	c.1978G>C	c.(1978-1980)Gag>Cag	p.E660Q	GAB2_ENST00000340149.2_Missense_Mutation_p.E622Q	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	660					cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell degranulation (GO:0043306)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			TCTGTCCACTCCTGCATGGTG	0.602																																						dbGAP											0													135.0	108.0	117.0					11																	77930371		2200	4292	6492	-	-	-	SO:0001583	missense	0			AB011143	CCDS8259.1, CCDS8260.1	11q13.4-q13.5	2013-01-10			ENSG00000033327	ENSG00000033327		"""Pleckstrin homology (PH) domain containing"""	14458	protein-coding gene	gene with protein product	"""Grb2-associated binder 2"""	606203				10391903, 10068651	Standard	NM_080491		Approved	KIAA0571	uc001ozh.3	Q9UQC2	OTTHUMG00000166673	ENST00000361507.4:c.1978G>C	11.37:g.77930371C>G	ENSP00000354952:p.Glu660Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRM2|A6NEW9|A7MD36|O60317	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E660Q	ENST00000361507.4	37	c.1978	CCDS8259.1	11	.	.	.	.	.	.	.	.	.	.	C	29.1	4.973473	0.92919	.	.	ENSG00000033327	ENST00000340149;ENST00000361507	T;T	0.25414	1.8;1.8	5.16	5.16	0.70880	.	0.000000	0.85682	U	0.000000	T	0.55513	0.1925	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.55366	-0.8152	10	0.35671	T	0.21	-19.4727	19.0243	0.92926	0.0:1.0:0.0:0.0	.	660	Q9UQC2	GAB2_HUMAN	Q	622;660	ENSP00000343959:E622Q;ENSP00000354952:E660Q	ENSP00000343959:E622Q	E	-	1	0	GAB2	77608019	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.563000	0.86464	0.557000	0.71058	GAG	GAB2	-	NULL	ENSG00000033327		0.602	GAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAB2	HGNC	protein_coding	OTTHUMT00000391085.1	67	0.00	0	C	NM_080491		77930371	77930371	-1	no_errors	ENST00000361507	ensembl	human	known	69_37n	missense	55	52.59	61	SNP	1.000	G
GAB3	139716	genome.wustl.edu	37	X	153927707	153927707	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:153927707C>T	ENST00000369575.3	-	6	1235	c.1204G>A	c.(1204-1206)Gcc>Acc	p.A402T	GAB3_ENST00000496390.1_5'UTR|GAB3_ENST00000424127.2_Missense_Mutation_p.A403T	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	402					macrophage differentiation (GO:0030225)					NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AGACCAGAGGCACCAGCCTGG	0.552																																						dbGAP											0													86.0	79.0	81.0					X																	153927707		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY057989	CCDS14760.1, CCDS48198.1, CCDS65357.1	Xq28	2013-01-10			ENSG00000160219	ENSG00000160219		"""Pleckstrin homology (PH) domain containing"""	17515	protein-coding gene	gene with protein product	"""DOS/Gab family member 3"", ""Gab3 scaffolding protein"""	300482				11739737	Standard	XM_005274648		Approved		uc004fmk.1	Q8WWW8	OTTHUMG00000024245	ENST00000369575.3:c.1204G>A	X.37:g.153927707C>T	ENSP00000358588:p.Ala402Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHF8|E9PB44	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.A403T	ENST00000369575.3	37	c.1207	CCDS14760.1	X	.	.	.	.	.	.	.	.	.	.	C	13.42	2.231348	0.39399	.	.	ENSG00000160219	ENST00000369575;ENST00000369568;ENST00000424127	T;T;T	0.19532	2.14;2.14;2.14	5.85	-1.1	0.09872	.	0.660402	0.15874	N	0.240368	T	0.12433	0.0302	L	0.42245	1.32	0.09310	N	1	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.08055	0.002;0.003;0.002	T	0.22487	-1.0215	10	0.30854	T	0.27	-6.949	1.2612	0.02002	0.2997:0.203:0.326:0.1714	.	403;403;402	A6NHF8;E9PB44;Q8WWW8	.;.;GAB3_HUMAN	T	402;403;403	ENSP00000358588:A402T;ENSP00000358581:A403T;ENSP00000399588:A403T	ENSP00000358581:A403T	A	-	1	0	GAB3	153580901	0.000000	0.05858	0.000000	0.03702	0.295000	0.27426	0.013000	0.13310	-0.247000	0.09597	0.529000	0.55759	GCC	GAB3	-	NULL	ENSG00000160219		0.552	GAB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GAB3	HGNC	protein_coding	OTTHUMT00000061192.2	79	0.00	0	C	NM_001081573		153927707	153927707	-1	no_errors	ENST00000424127	ensembl	human	known	69_37n	missense	63	26.44	23	SNP	0.000	T
GAB4	128954	genome.wustl.edu	37	22	17451047	17451047	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:17451047G>A	ENST00000400588.1	-	4	830	c.723C>T	c.(721-723)ttC>ttT	p.F241F	GAB4_ENST00000523144.1_Intron	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	241										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				TCCTCATGATGAATGGGGCCT	0.562																																						dbGAP											0													78.0	83.0	82.0					22																	17451047		2111	4263	6374	-	-	-	SO:0001819	synonymous_variant	0			AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"""Pleckstrin homology (PH) domain containing"""	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.723C>T	22.37:g.17451047G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.F241	ENST00000400588.1	37	c.723	CCDS42976.1	22																																																																																			GAB4	-	NULL	ENSG00000215568		0.562	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAB4	HGNC	protein_coding	OTTHUMT00000315426.1	52	0.00	0	G	XM_372882		17451047	17451047	-1	no_errors	ENST00000400588	ensembl	human	known	69_37n	silent	124	12.06	17	SNP	0.002	A
GABPB1	2553	genome.wustl.edu	37	15	50593097	50593097	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:50593097C>T	ENST00000220429.8	-	6	790	c.622G>A	c.(622-624)Gaa>Aaa	p.E208K	GABPB1_ENST00000429662.2_Missense_Mutation_p.E208K|GABPB1_ENST00000359031.4_Missense_Mutation_p.E196K|GABPB1_ENST00000380877.3_Missense_Mutation_p.E196K|GABPB1_ENST00000560825.1_Missense_Mutation_p.E196K|GABPB1_ENST00000396464.3_Missense_Mutation_p.E196K|GABPB1_ENST00000543881.1_Missense_Mutation_p.E132K			Q06547	GABP1_HUMAN	GA binding protein transcription factor, beta subunit 1	208					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						ACACCCGTTTCATCTGTAAGA	0.343																																						dbGAP											0													70.0	69.0	69.0					15																	50593097		2196	4295	6491	-	-	-	SO:0001583	missense	0			D13316	CCDS10135.1, CCDS10136.1, CCDS32239.1, CCDS45258.1	15q21.2	2013-01-10	2008-02-25	2008-02-25	ENSG00000104064	ENSG00000104064		"""Ankyrin repeat domain containing"""	4074	protein-coding gene	gene with protein product		600610	"""GA binding protein transcription factor, beta subunit 2"""	GABPB2		7958862	Standard	NM_016655		Approved	E4TF1-47, GABPB	uc001zyb.3	Q06547	OTTHUMG00000131642	ENST00000220429.8:c.622G>A	15.37:g.50593097C>T	ENSP00000220429:p.Glu208Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8IE52|Q06545|Q12940|Q12941|Q12942|Q8IYD0	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.E208K	ENST00000220429.8	37	c.622	CCDS32239.1	15	.	.	.	.	.	.	.	.	.	.	C	14.97	2.695332	0.48202	.	.	ENSG00000104064	ENST00000220429;ENST00000380877;ENST00000543881;ENST00000396464;ENST00000429662;ENST00000359031	T;T;T;T	0.65178	0.84;-0.14;-0.13;-0.14	5.5	5.5	0.81552	.	0.069836	0.64402	D	0.000015	T	0.47507	0.1449	N	0.22421	0.69	0.53005	D	0.99996	B;B;B;B;B	0.23058	0.079;0.001;0.048;0.048;0.014	B;B;B;B;B	0.19391	0.016;0.006;0.025;0.025;0.008	T	0.46555	-0.9183	10	0.05959	T	0.93	-16.0075	19.4119	0.94677	0.0:1.0:0.0:0.0	.	208;208;196;208;196	B7Z726;Q06547-3;Q06547-4;Q06547;Q06547-2	.;.;.;GABP1_HUMAN;.	K	196;208;132;196;208;196	ENSP00000442500:E132K;ENSP00000379728:E196K;ENSP00000395771:E208K;ENSP00000351923:E196K	ENSP00000220429:E196K	E	-	1	0	GABPB1	48380389	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.677000	0.68142	2.596000	0.87737	0.650000	0.86243	GAA	GABPB1	-	NULL	ENSG00000104064		0.343	GABPB1-005	KNOWN	basic|CCDS	protein_coding	GABPB1	HGNC	protein_coding	OTTHUMT00000418294.1	65	0.00	0	C			50593097	50593097	-1	no_errors	ENST00000220429	ensembl	human	known	69_37n	missense	52	32.47	25	SNP	1.000	T
GABRA4	2557	genome.wustl.edu	37	4	46973157	46973157	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:46973157G>C	ENST00000264318.3	-	7	1799	c.817C>G	c.(817-819)Ctt>Gtt	p.L273V		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	273					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	ACTTGAGAAAGAATCACTGTC	0.363																																					Ovarian(6;283 369 8234 12290 33402)	dbGAP											0													74.0	72.0	73.0					4																	46973157		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.817C>G	4.37:g.46973157G>C	ENSP00000264318:p.Leu273Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IYR7	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABBAa4_rcpt,prints_GABAA_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.L273V	ENST00000264318.3	37	c.817	CCDS3473.1	4	.	.	.	.	.	.	.	.	.	.	G	23.5	4.427442	0.83667	.	.	ENSG00000109158	ENST00000264318	D	0.93307	-3.2	5.42	5.42	0.78866	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.95014	0.8386	L	0.37697	1.125	0.53005	D	0.999964	D	0.89917	1.0	D	0.91635	0.999	D	0.95379	0.8471	10	0.87932	D	0	.	18.3928	0.90489	0.0:0.0:1.0:0.0	.	273	P48169	GBRA4_HUMAN	V	273	ENSP00000264318:L273V	ENSP00000264318:L273V	L	-	1	0	GABRA4	46667914	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.781000	0.85668	2.821000	0.97095	0.650000	0.86243	CTT	GABRA4	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel	ENSG00000109158		0.363	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA4	HGNC	protein_coding	OTTHUMT00000216893.1	61	0.00	0	G			46973157	46973157	-1	no_errors	ENST00000264318	ensembl	human	known	69_37n	missense	52	22.39	15	SNP	1.000	C
GABRB2	2561	genome.wustl.edu	37	5	160758051	160758051	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:160758051C>A	ENST00000393959.1	-	8	915	c.916G>T	c.(916-918)Gac>Tac	p.D306Y	GABRB2_ENST00000520240.1_Missense_Mutation_p.D306Y|GABRB2_ENST00000517901.1_Missense_Mutation_p.D243Y|GABRB2_ENST00000517547.1_Missense_Mutation_p.D146Y|GABRB2_ENST00000274547.2_Missense_Mutation_p.D306Y|GABRB2_ENST00000353437.6_Missense_Mutation_p.D306Y			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	306	Allosteric effector binding. {ECO:0000250}.				cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)	p.D306N(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AGGTACATGTCAATGGCCTTC	0.483																																						dbGAP											2	Substitution - Missense(2)	urinary_tract(2)											158.0	162.0	160.0					5																	160758051		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4082	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 2"""	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.916G>T	5.37:g.160758051C>A	ENSP00000377531:p.Asp306Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,prints_GABAAa_rcpt,tigrfam_Neur_channel	p.D306Y	ENST00000393959.1	37	c.916	CCDS4355.1	5	.	.	.	.	.	.	.	.	.	.	C	25.8	4.675411	0.88445	.	.	ENSG00000145864	ENST00000393959;ENST00000274547;ENST00000353437;ENST00000520240;ENST00000517901;ENST00000517547	D;D;D;D;D;D	0.88124	-2.34;-2.34;-2.34;-2.34;-2.34;-2.34	5.26	5.26	0.73747	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.051139	0.85682	D	0.000000	D	0.95098	0.8412	M	0.91818	3.245	0.80722	D	1	B;P;D;D	0.89917	0.241;0.797;1.0;0.984	B;D;D;P	0.97110	0.111;0.94;1.0;0.875	D	0.95977	0.8974	10	0.87932	D	0	.	18.8686	0.92303	0.0:1.0:0.0:0.0	.	146;243;306;306	B7Z279;E7EV50;P47870;P47870-1	.;.;GBRB2_HUMAN;.	Y	306;306;306;306;243;146	ENSP00000377531:D306Y;ENSP00000274547:D306Y;ENSP00000274546:D306Y;ENSP00000429320:D306Y;ENSP00000430532:D243Y;ENSP00000429750:D146Y	ENSP00000274547:D306Y	D	-	1	0	GABRB2	160690629	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.726000	0.84824	2.451000	0.82905	0.563000	0.77884	GAC	GABRB2	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_GABAAa_rcpt,tigrfam_Neur_channel	ENSG00000145864		0.483	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRB2	HGNC	protein_coding	OTTHUMT00000252704.1	152	0.00	0	C			160758051	160758051	-1	no_errors	ENST00000274547	ensembl	human	known	69_37n	missense	56	57.78	78	SNP	1.000	A
GABRA6	2559	genome.wustl.edu	37	5	161119195	161119195	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:161119195G>A	ENST00000274545.5	+	8	1508	c.1075G>A	c.(1075-1077)Gag>Aag	p.E359K	RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000523217.1_Missense_Mutation_p.E349K			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	359					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	TTTGGAAGCTGAGATTGTTTT	0.398										TCGA Ovarian(5;0.080)																												dbGAP											0													144.0	130.0	135.0					5																	161119195		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.1075G>A	5.37:g.161119195G>A	ENSP00000274545:p.Glu359Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K096|Q4VAV2	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa6_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.E359K	ENST00000274545.5	37	c.1075	CCDS4356.1	5	.	.	.	.	.	.	.	.	.	.	G	8.066	0.769232	0.15983	.	.	ENSG00000145863	ENST00000274545;ENST00000523217	D;D	0.84298	-1.83;-1.83	5.24	3.43	0.39272	Neurotransmitter-gated ion-channel transmembrane domain (1);	1.119980	0.06708	N	0.772603	D	0.82999	0.5159	M	0.65975	2.015	0.47276	D	0.999372	B	0.02656	0.0	B	0.08055	0.003	T	0.66436	-0.5924	10	0.12766	T	0.61	.	11.0026	0.47616	0.1546:0.0:0.8454:0.0	.	359	Q16445	GBRA6_HUMAN	K	359;349	ENSP00000274545:E359K;ENSP00000430527:E349K	ENSP00000274545:E359K	E	+	1	0	GABRA6	161051773	1.000000	0.71417	0.986000	0.45419	0.874000	0.50279	4.714000	0.61902	1.182000	0.42928	0.557000	0.71058	GAG	GABRA6	-	superfamily_Neurotrans-gated_channel_TM,prints_GABBAa6_rcpt	ENSG00000145863		0.398	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA6	HGNC	protein_coding	OTTHUMT00000252707.2	119	0.00	0	G			161119195	161119195	+1	no_errors	ENST00000274545	ensembl	human	known	69_37n	missense	100	21.26	27	SNP	0.999	A
GABRG1	2565	genome.wustl.edu	37	4	46067473	46067473	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:46067473G>C	ENST00000295452.4	-	4	617	c.450C>G	c.(448-450)ttC>ttG	p.F150L		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	150					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTGAGTTTCTGAAGAAAGTGT	0.353																																						dbGAP											0													88.0	88.0	88.0					4																	46067473		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.450C>G	4.37:g.46067473G>C	ENSP00000295452:p.Phe150Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5H9T8	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg1_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.F150L	ENST00000295452.4	37	c.450	CCDS3470.1	4	.	.	.	.	.	.	.	.	.	.	G	16.22	3.063085	0.55432	.	.	ENSG00000163285	ENST00000295452;ENST00000540030	T	0.73363	-0.74	5.08	3.32	0.38043	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	T	0.74268	0.3694	M	0.83223	2.63	0.49483	D	0.999798	B	0.21753	0.06	B	0.27262	0.078	T	0.74677	-0.3585	10	0.87932	D	0	.	7.9289	0.29891	0.2513:0.0:0.7487:0.0	.	150	Q8N1C3	GBRG1_HUMAN	L	150	ENSP00000295452:F150L	ENSP00000295452:F150L	F	-	3	2	GABRG1	45762230	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.632000	0.37102	1.255000	0.44051	0.508000	0.49915	TTC	GABRG1	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel	ENSG00000163285		0.353	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRG1	HGNC	protein_coding	OTTHUMT00000250470.1	99	0.00	0	G	NM_173536		46067473	46067473	-1	no_errors	ENST00000295452	ensembl	human	known	69_37n	missense	76	20.00	19	SNP	1.000	C
GADL1	339896	genome.wustl.edu	37	3	30903144	30903144	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:30903144C>G	ENST00000282538.5	-	2	301	c.151G>C	c.(151-153)Gag>Cag	p.E51Q	GADL1_ENST00000454381.3_Missense_Mutation_p.E51Q	NM_207359.2	NP_997242.2	Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	51					carboxylic acid metabolic process (GO:0019752)		aspartate 1-decarboxylase activity (GO:0004068)|pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25						CTACAGGCCTCTTCAACAAAT	0.388																																						dbGAP											0													164.0	136.0	144.0					3																	30903144		692	1591	2283	-	-	-	SO:0001583	missense	0			AK128643	CCDS2649.2	3p23-p22	2009-01-14			ENSG00000144644	ENSG00000144644			27949	protein-coding gene	gene with protein product		615601					Standard	NM_207359		Approved		uc003cep.2	Q6ZQY3	OTTHUMG00000130621	ENST00000282538.5:c.151G>C	3.37:g.30903144C>G	ENSP00000282538:p.Glu51Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase_major_dom	p.E51Q	ENST00000282538.5	37	c.151	CCDS2649.2	3	.	.	.	.	.	.	.	.	.	.	C	14.57	2.574951	0.45902	.	.	ENSG00000144644	ENST00000282538;ENST00000454381	T;T	0.38240	2.86;1.15	5.42	5.42	0.78866	Pyridoxal phosphate-dependent transferase, major domain (1);	.	.	.	.	T	0.28167	0.0695	N	0.24115	0.695	0.39728	D	0.971566	B	0.09022	0.002	B	0.12837	0.008	T	0.07790	-1.0754	9	0.19590	T	0.45	.	18.8154	0.92075	0.0:1.0:0.0:0.0	.	51	Q6ZQY3	GADL1_HUMAN	Q	51	ENSP00000282538:E51Q;ENSP00000427059:E51Q	ENSP00000282538:E51Q	E	-	1	0	GADL1	30878148	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.578000	0.60929	2.533000	0.85409	0.555000	0.69702	GAG	GADL1	-	superfamily_PyrdxlP-dep_Trfase_major_dom	ENSG00000144644		0.388	GADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GADL1	HGNC	protein_coding	OTTHUMT00000253106.2	192	0.00	0	C	NM_207359		30903144	30903144	-1	no_errors	ENST00000282538	ensembl	human	known	69_37n	missense	200	11.11	25	SNP	1.000	G
GALNS	2588	genome.wustl.edu	37	16	88893184	88893184	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:88893184C>G	ENST00000268695.5	-	10	1153	c.1065G>C	c.(1063-1065)ctG>ctC	p.L355L	GALNS_ENST00000542788.1_Silent_p.L280L|AC092384.1_ENST00000593752.1_5'Flank	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfatase	355	Catalytic domain.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)|N-acetylgalactosamine-6-sulfatase activity (GO:0043890)|sulfuric ester hydrolase activity (GO:0008484)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)		TGGGCGGCGTCAGGCCCGCAA	0.667																																					GBM(129;1929 2344 25209 33204)	dbGAP											0													32.0	30.0	31.0					16																	88893184		2190	4290	6480	-	-	-	SO:0001819	synonymous_variant	0			D17629	CCDS10970.1	16q24.3	2014-07-03	2014-07-03		ENSG00000141012	ENSG00000141012	3.1.6.4	"""Arylsulfatase family"""	4122	protein-coding gene	gene with protein product	"""Morquio syndrome"", ""mucopolysaccharidosis type IVA"""	612222	"""galactosamine (N-acetyl)-6-sulfate sulfatase"""			1755850	Standard	NM_000512		Approved	GAS, GALNAC6S	uc002fly.4	P34059	OTTHUMG00000137862	ENST00000268695.5:c.1065G>C	16.37:g.88893184C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86VK3	Silent	SNP	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.L355	ENST00000268695.5	37	c.1065	CCDS10970.1	16																																																																																			GALNS	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	ENSG00000141012		0.667	GALNS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNS	HGNC	protein_coding	OTTHUMT00000269543.1	9	0.00	0	C			88893184	88893184	-1	no_errors	ENST00000268695	ensembl	human	known	69_37n	silent	21	36.36	12	SNP	0.115	G
GALNT10	55568	genome.wustl.edu	37	5	153765877	153765877	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:153765877C>T	ENST00000297107.6	+	7	1080	c.943C>T	c.(943-945)Ccc>Tcc	p.P315S	SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377661.2_Missense_Mutation_p.P253S|GALNT10_ENST00000519544.1_3'UTR|GALNT10_ENST00000425427.2_Missense_Mutation_p.P315S	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	315	Catalytic subdomain B.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			TGACAGGTCTCCCGTGATGGC	0.592																																						dbGAP											0													190.0	177.0	182.0					5																	153765877		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19873	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 10"""	608043	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"""			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.943C>T	5.37:g.153765877C>T	ENSP00000297107:p.Pro315Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.P315S	ENST00000297107.6	37	c.943	CCDS4325.1	5	.	.	.	.	.	.	.	.	.	.	C	33	5.234585	0.95207	.	.	ENSG00000164574	ENST00000425427;ENST00000297107;ENST00000377661	T;T;D	0.81739	0.2;0.2;-1.53	5.45	5.45	0.79879	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	D	0.93436	0.7906	H	0.96015	3.755	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95197	0.8313	10	0.87932	D	0	.	19.2807	0.94051	0.0:1.0:0.0:0.0	.	253;315;315	Q86SR1-2;Q86SR1;Q86SR1-3	.;GLT10_HUMAN;.	S	315;315;253	ENSP00000415210:P315S;ENSP00000297107:P315S;ENSP00000366889:P253S	ENSP00000297107:P315S	P	+	1	0	GALNT10	153746070	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.642000	0.83385	2.563000	0.86464	0.655000	0.94253	CCC	GALNT10	-	pfam_Glyco_trans_2	ENSG00000164574		0.592	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT10	HGNC	protein_coding	OTTHUMT00000252453.1	109	0.00	0	C	NM_198321		153765877	153765877	+1	no_errors	ENST00000297107	ensembl	human	known	69_37n	missense	76	17.20	16	SNP	1.000	T
GALNT11	63917	genome.wustl.edu	37	7	151818672	151818672	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:151818672G>A	ENST00000434507.1	+	14	2174	c.1737G>A	c.(1735-1737)ctG>ctA	p.L579L	GALNT11_ENST00000320311.2_Silent_p.L579L|RP5-981O7.2_ENST00000424630.1_RNA|GALNT11_ENST00000452146.2_Silent_p.L498L|GALNT11_ENST00000430044.2_Silent_p.L579L			Q8NCW6	GLT11_HUMAN	polypeptide N-acetylgalactosaminyltransferase 11	579	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via threonine (GO:0018243)|regulation of Notch signaling pathway (GO:0008593)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|Notch binding (GO:0005112)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		GACAGTGCCTGAGAGCAGTGG	0.488																																						dbGAP											0													119.0	100.0	107.0					7																	151818672		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AC006017	CCDS5930.1	7q36.1	2014-05-09	2014-05-09		ENSG00000178234	ENSG00000178234	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19875	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 11"""	615130	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)"""			11925450	Standard	NM_022087		Approved	GalNAc-T11	uc010lqg.1	Q8NCW6	OTTHUMG00000157251	ENST00000434507.1:c.1737G>A	7.37:g.151818672G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWF4|Q6PCD1|Q9H6C2|Q9H6Z5|Q9UDR8	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.L579	ENST00000434507.1	37	c.1737	CCDS5930.1	7																																																																																			GALNT11	-	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	ENSG00000178234		0.488	GALNT11-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GALNT11	HGNC	protein_coding	OTTHUMT00000348184.1	90	0.00	0	G	NM_022087		151818672	151818672	+1	no_errors	ENST00000320311	ensembl	human	known	69_37n	silent	61	37.11	36	SNP	0.997	A
GALNT14	79623	genome.wustl.edu	37	2	31152341	31152341	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:31152341C>T	ENST00000349752.5	-	11	1710	c.1071G>A	c.(1069-1071)cgG>cgA	p.R357R	GALNT14_ENST00000420311.2_Silent_p.R322R|GALNT14_ENST00000406653.1_Silent_p.R337R|GALNT14_ENST00000324589.5_Silent_p.R362R|GALNT14_ENST00000356174.3_Silent_p.R324R|GALNT14_ENST00000486564.1_5'UTR	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	357					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					CTTCAGCTGTCCGCTTGGTGT	0.532																																						dbGAP											0													132.0	115.0	121.0					2																	31152341		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	22946	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 14"""	608225	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"""			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.1071G>A	2.37:g.31152341C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.R357	ENST00000349752.5	37	c.1071	CCDS1773.2	2																																																																																			GALNT14	-	NULL	ENSG00000158089		0.532	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT14	HGNC	protein_coding	OTTHUMT00000157264.1	133	0.00	0	C	NM_024572		31152341	31152341	-1	no_errors	ENST00000349752	ensembl	human	known	69_37n	silent	102	18.40	23	SNP	1.000	T
GALNT13	114805	genome.wustl.edu	37	2	155102453	155102453	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:155102453G>C	ENST00000392825.3	+	7	1382	c.815G>C	c.(814-816)aGa>aCa	p.R272T	GALNT13_ENST00000409237.1_Missense_Mutation_p.R272T	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	272					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						GTTCCCCAAAGAGAAATGGAC	0.383																																						dbGAP											0													72.0	72.0	72.0					2																	155102453		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23242	protein-coding gene	gene with protein product	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13"", ""polypeptide GalNAc transferase 13"""	608369	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"""			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.815G>C	2.37:g.155102453G>C	ENSP00000376570:p.Arg272Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.R272T	ENST00000392825.3	37	c.815	CCDS2199.1	2	.	.	.	.	.	.	.	.	.	.	G	26.7	4.765888	0.90020	.	.	ENSG00000144278	ENST00000392825;ENST00000409237	T;T	0.61274	0.12;0.12	5.13	5.13	0.70059	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	T	0.68100	0.2964	M	0.67397	2.05	0.80722	D	1	P;D;P;D	0.58970	0.822;0.984;0.786;0.984	B;P;P;P	0.52481	0.264;0.588;0.665;0.7	T	0.71427	-0.4596	10	0.56958	D	0.05	.	17.9784	0.89133	0.0:0.0:1.0:0.0	.	272;272;272;272	Q8IUC8-2;B3KY85;Q08ER7;Q8IUC8	.;.;.;GLT13_HUMAN	T	272	ENSP00000376570:R272T;ENSP00000387239:R272T	ENSP00000376570:R272T	R	+	2	0	GALNT13	154810699	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.810000	0.99221	2.577000	0.86979	0.580000	0.79431	AGA	GALNT13	-	pfam_Glyco_trans_2	ENSG00000144278		0.383	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT13	HGNC	protein_coding	OTTHUMT00000254870.2	77	0.00	0	G	NM_052917		155102453	155102453	+1	no_errors	ENST00000409237	ensembl	human	known	69_37n	missense	70	17.65	15	SNP	1.000	C
GALNT8	26290	genome.wustl.edu	37	12	4874619	4874619	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:4874619C>T	ENST00000252318.2	+	10	2005	c.1668C>T	c.(1666-1668)tgC>tgT	p.C556C		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	556	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						GTGATCGCTGCCTGACAGACC	0.433																																					Colon(108;631 1558 7270 20097 39846)	dbGAP											0													110.0	105.0	107.0					12																	4874619		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4130	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 8"""	606250	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)"""			10767557	Standard	NM_017417		Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.1668C>T	12.37:g.4874619C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RU02	Missense_Mutation	SNP	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin	p.A52V	ENST00000252318.2	37	c.155	CCDS8533.1	12	.	.	.	.	.	.	.	.	.	.	C	2.927	-0.221964	0.06061	.	.	ENSG00000130035	ENST00000542998;ENST00000535354	.	.	.	4.04	2.21	0.28008	.	.	.	.	.	T	0.53738	0.1815	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42732	-0.9434	4	.	.	.	.	5.9979	0.19505	0.0:0.7622:0.0:0.2378	.	.	.	.	V	73;52	.	.	A	+	2	0	GALNT8	4744880	0.492000	0.26027	0.973000	0.42090	0.362000	0.29581	0.528000	0.23002	0.371000	0.24564	0.655000	0.94253	GCC	GALNT8	-	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin	ENSG00000130035		0.433	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	GALNT8	HGNC	protein_coding	OTTHUMT00000388277.2	98	0.00	0	C	NM_017417		4874619	4874619	+1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000535354	ensembl	human	putative	69_37n	missense	41	35.94	23	SNP	1.000	T
GALNT6	11226	genome.wustl.edu	37	12	51770982	51770982	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:51770982C>G	ENST00000543196.2	-	3	866	c.661G>C	c.(661-663)Gag>Cag	p.E221Q	GALNT6_ENST00000603203.1_5'Flank|GALNT6_ENST00000356317.3_Missense_Mutation_p.E221Q			Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	221	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GCCTCACCCTCTGTGCTGGCA	0.617																																						dbGAP											0													83.0	70.0	74.0					12																	51770982		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y08565	CCDS8813.1	12q13	2014-03-13	2014-03-13		ENSG00000139629	ENSG00000139629		"""Glycosyltransferase family 2 domain containing"""	4128	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 6"""	605148	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)"""			10464263	Standard	NM_007210		Approved	GalNAc-T6	uc001ryl.1	Q8NCL4		ENST00000543196.2:c.661G>C	12.37:g.51770982C>G	ENSP00000444171:p.Glu221Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IYH4|Q9H6G2|Q9UIV5	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.E221Q	ENST00000543196.2	37	c.661	CCDS8813.1	12	.	.	.	.	.	.	.	.	.	.	C	27.0	4.788686	0.90367	.	.	ENSG00000139629	ENST00000543196;ENST00000356317;ENST00000546163	T;T	0.59772	0.24;0.24	4.54	4.54	0.55810	Glycosyl transferase, family 2 (1);	0.322090	0.31257	N	0.007969	T	0.37210	0.0995	N	0.02275	-0.615	0.32167	N	0.582152	B	0.22746	0.074	B	0.32289	0.143	T	0.42344	-0.9457	10	0.32370	T	0.25	.	17.261	0.87069	0.0:1.0:0.0:0.0	.	221	Q8NCL4	GALT6_HUMAN	Q	221;221;202	ENSP00000444171:E221Q;ENSP00000348668:E221Q	ENSP00000348668:E221Q	E	-	1	0	GALNT6	50057249	1.000000	0.71417	0.262000	0.24481	0.964000	0.63967	7.562000	0.82300	2.802000	0.96397	0.561000	0.74099	GAG	GALNT6	-	pfam_Glyco_trans_2	ENSG00000139629		0.617	GALNT6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GALNT6	HGNC	protein_coding	OTTHUMT00000469735.1	77	0.00	0	C	NM_007210		51770982	51770982	-1	no_errors	ENST00000356317	ensembl	human	known	69_37n	missense	44	57.69	60	SNP	0.926	G
GALNTL5	168391	genome.wustl.edu	37	7	151711821	151711821	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:151711821C>T	ENST00000392800.2	+	8	1373	c.1119C>T	c.(1117-1119)atC>atT	p.I373I	GALNTL5_ENST00000431418.2_Silent_p.I373I	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 5	373					spermatid development (GO:0007286)	endosome (GO:0005768)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		CTACAATCATCAGTGCTATGA	0.448																																						dbGAP											0													174.0	148.0	156.0					7																	151711821		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF440400	CCDS5929.1	7q36.2	2014-03-13	2014-03-13	2004-07-28	ENSG00000106648	ENSG00000106648		"""Glycosyltransferase family 2 domain containing"""	21725	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 5"""	615133	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5"""	GALNT15			Standard	NM_145292		Approved	GalNAc-T5L	uc003wkp.3	Q7Z4T8	OTTHUMG00000157306	ENST00000392800.2:c.1119C>T	7.37:g.151711821C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q75KN2|Q75MD3|Q8NCV4|Q8WW05|Q9UDR9	Silent	SNP	pfam_Glyco_trans_2	p.I373	ENST00000392800.2	37	c.1119	CCDS5929.1	7																																																																																			GALNTL5	-	NULL	ENSG00000106648		0.448	GALNTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNTL5	HGNC	protein_coding	OTTHUMT00000348395.1	90	0.00	0	C	NM_145292		151711821	151711821	+1	no_errors	ENST00000392800	ensembl	human	known	69_37n	silent	61	37.11	36	SNP	0.000	T
GANAB	23193	genome.wustl.edu	37	11	62394582	62394582	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:62394582C>G	ENST00000356638.3	-	19	2276	c.2260G>C	c.(2260-2262)Gtt>Ctt	p.V754L	GANAB_ENST00000534779.1_Missense_Mutation_p.V662L|GANAB_ENST00000346178.4_Missense_Mutation_p.V776L|GANAB_ENST00000540933.1_Missense_Mutation_p.V657L	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	754					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	ACAGGGTGAACCAGCAACGCA	0.542																																					Melanoma(23;1005 1074 15747 18937)	dbGAP											0													134.0	129.0	131.0					11																	62394582		2202	4299	6501	-	-	-	SO:0001583	missense	0			AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.2260G>C	11.37:g.62394582C>G	ENSP00000349053:p.Val754Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NC20|Q8WTS9|Q9P0X0	Missense_Mutation	SNP	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd	p.V776L	ENST00000356638.3	37	c.2326	CCDS8026.1	11	.	.	.	.	.	.	.	.	.	.	C	27.1	4.799851	0.90538	.	.	ENSG00000089597	ENST00000346178;ENST00000356638;ENST00000534779;ENST00000540933	D;D;D;D	0.94723	-3.5;-3.5;-3.5;-3.5	5.51	4.59	0.56863	.	0.061993	0.64402	D	0.000005	D	0.97210	0.9088	H	0.95679	3.705	0.58432	D	0.999997	P;P;P;P	0.46020	0.767;0.767;0.871;0.521	P;P;P;B	0.53988	0.739;0.739;0.67;0.407	D	0.97626	1.0139	10	0.72032	D	0.01	-15.7099	11.2588	0.49069	0.0:0.9112:0.0:0.0888	.	640;662;754;776	B4DIW2;E9PKU7;Q14697;Q14697-2	.;.;GANAB_HUMAN;.	L	776;754;662;657	ENSP00000340466:V776L;ENSP00000349053:V754L;ENSP00000435306:V662L;ENSP00000442962:V657L	ENSP00000340466:V776L	V	-	1	0	GANAB	62151158	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.464000	0.66719	1.539000	0.49286	0.561000	0.74099	GTT	GANAB	-	pfam_Glyco_hydro_31	ENSG00000089597		0.542	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GANAB	HGNC	protein_coding	OTTHUMT00000395689.1	67	0.00	0	C	NM_198334		62394582	62394582	-1	no_errors	ENST00000346178	ensembl	human	known	69_37n	missense	107	21.32	29	SNP	1.000	G
COX6A1	1337	genome.wustl.edu	37	12	120876255	120876255	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:120876255G>A	ENST00000229379.2	+	2	214	c.177G>A	c.(175-177)ctG>ctA	p.L59L	AL021546.6_ENST00000551806.1_Missense_Mutation_p.E36K	NM_004373.3	NP_004364.2	P12074	CX6A1_HUMAN	cytochrome c oxidase subunit VIa polypeptide 1	59					cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)	cytochrome-c oxidase activity (GO:0004129)					all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATGTGTACCTGAAGTCGCACC	0.592																																						dbGAP											0													102.0	89.0	94.0					12																	120876255		2203	4297	6500	-	-	-	SO:0001819	synonymous_variant	0			X15341	CCDS9197.1	12q24	2011-07-04			ENSG00000111775	ENSG00000111775	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2277	protein-coding gene	gene with protein product		602072		COX6A		9284905	Standard	NM_004373		Approved		uc001tyf.2	P12074	OTTHUMG00000047791	ENST00000229379.2:c.177G>A	12.37:g.120876255G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R500|O43714|Q32Q37	Missense_Mutation	SNP	pfam_Glu-tRNAGlntrans,pfam_Cyt_c_oxidase_su6a,superfamily_Cyt_c_oxidase_su6a,tigrfam_Glu-tRNAGlntrans	p.E36K	ENST00000229379.2	37	c.106	CCDS9197.1	12	.	.	.	.	.	.	.	.	.	.	G	4.638	0.118604	0.08881	.	.	ENSG00000111780	ENST00000551806	.	.	.	5.13	3.26	0.37387	.	.	.	.	.	T	0.70298	0.3208	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69060	-0.5245	4	.	.	.	-17.7819	15.8344	0.78787	0.0:0.2561:0.7439:0.0	.	.	.	.	K	36	.	.	E	+	1	0	GATC	119360638	1.000000	0.71417	1.000000	0.80357	0.078000	0.17371	2.617000	0.46385	0.618000	0.30179	0.655000	0.94253	GAA	GATC	-	pfam_Cyt_c_oxidase_su6a,superfamily_Cyt_c_oxidase_su6a	ENSG00000111780		0.592	COX6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GATC	HGNC	protein_coding	OTTHUMT00000108984.3	38	0.00	0	G	NM_004373		120876255	120876255	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000551806	ensembl	human	putative	69_37n	missense	32	17.95	7	SNP	1.000	A
SRSF9	8683	genome.wustl.edu	37	12	120897761	120897761	+	IGR	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:120897761G>C	ENST00000229390.3	-	0	1201				GATC_ENST00000551765.1_Nonstop_Mutation_p.*137S|AL021546.6_ENST00000551806.1_Nonstop_Mutation_p.*168L	NM_003769.2	NP_003760.1	Q13242	SRSF9_HUMAN	serine/arginine-rich splicing factor 9						gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	9						CCACACAGCTGAGTAGCTCAT	0.368																																						dbGAP											0													91.0	86.0	88.0					12																	120897761		2203	4300	6503	-	-	-	SO:0001628	intergenic_variant	0			U30825	CCDS9199.1	12q24.31	2013-02-12	2010-06-22	2010-06-22	ENSG00000111786	ENSG00000111786		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10791	protein-coding gene	gene with protein product	"""SR splicing factor 9"""	601943	"""splicing factor, arginine/serine-rich 9"""	SFRS9		7556075, 20516191	Standard	NM_003769		Approved	SRp30c	uc001tyi.3	Q13242	OTTHUMG00000047790		12.37:g.120897761G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q52LD1	Nonstop_Mutation	SNP	pfam_Glu-tRNAGlntrans,tigrfam_Glu-tRNAGlntrans	p.*137S	ENST00000229390.3	37	c.410	CCDS9199.1	12	.	.	.	.	.	.	.	.	.	.	G	16.90	3.250768	0.59212	.	.	ENSG00000257218	ENST00000551765	.	.	.	5.11	3.26	0.37387	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.3699	0.21475	0.0918:0.0:0.7271:0.1811	.	.	.	.	S	137	.	.	X	+	2	2	AL021546.1	119382144	0.616000	0.27035	0.057000	0.19452	0.686000	0.39977	0.843000	0.27640	0.841000	0.35020	0.655000	0.94253	TGA	GATC	-	NULL	ENSG00000257218		0.368	SRSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GATC	Clone_based_vega_gene	protein_coding	OTTHUMT00000108983.2	98	0.00	0	G	NM_003769		120897761	120897761	+1	no_errors	ENST00000551765	ensembl	human	known	69_37n	nonstop	77	15.38	14	SNP	0.068	C
GBP6	163351	genome.wustl.edu	37	1	89848300	89848300	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:89848300C>G	ENST00000370456.4	+	8	1323	c.1230C>G	c.(1228-1230)ctC>ctG	p.L410L	GBP6_ENST00000535065.1_Silent_p.L280L	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	410					cellular response to interferon-gamma (GO:0071346)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		AGGCTAAACTCAATGAGCTCT	0.433																																						dbGAP											0													115.0	117.0	116.0					1																	89848300		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BX537949	CCDS723.1	1p22	2008-02-05			ENSG00000183347	ENSG00000183347			25395	protein-coding gene	gene with protein product		612467					Standard	NM_198460		Approved	DKFZp686G0786	uc001dnf.2	Q6ZN66	OTTHUMG00000010123	ENST00000370456.4:c.1230C>G	1.37:g.89848300C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRM3|Q6ZN86|Q7Z3F0	Silent	SNP	pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C	p.L410	ENST00000370456.4	37	c.1230	CCDS723.1	1																																																																																			GBP6	-	pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C	ENSG00000183347		0.433	GBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP6	HGNC	protein_coding	OTTHUMT00000028001.1	69	0.00	0	C	NM_198460		89848300	89848300	+1	no_errors	ENST00000370456	ensembl	human	known	69_37n	silent	47	28.79	19	SNP	0.000	G
GCFC2	6936	genome.wustl.edu	37	2	75929427	75929427	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:75929427C>G	ENST00000321027.3	-	3	650	c.517G>C	c.(517-519)Gag>Cag	p.E173Q	GCFC2_ENST00000470503.1_Missense_Mutation_p.E173Q|GCFC2_ENST00000409857.3_Intron|GCFC2_ENST00000541687.1_Missense_Mutation_p.E173Q	NM_001201334.1|NM_003203.4	NP_001188263.1|NP_003194.3	P16383	GCFC2_HUMAN	GC-rich sequence DNA-binding factor 2	173					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)										TCTTCGCTCTCTCTCTTCATA	0.453																																						dbGAP											0													171.0	161.0	164.0					2																	75929427		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.517G>C	2.37:g.75929427C>G	ENSP00000318690:p.Glu173Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A4UHQ8|O95032|Q53TY0|Q6P2F2	Missense_Mutation	SNP	pfam_GCFC_dom	p.E173Q	ENST00000321027.3	37	c.517	CCDS1961.1	2	.	.	.	.	.	.	.	.	.	.	C	0.701	-0.790850	0.02884	.	.	ENSG00000005436	ENST00000321027;ENST00000541687	T;T	0.36340	2.18;1.26	4.85	1.13	0.20643	.	1.114780	0.06676	N	0.767069	T	0.27900	0.0687	L	0.43923	1.385	0.09310	N	1	B;B	0.28552	0.215;0.023	B;B	0.26416	0.069;0.021	T	0.26916	-1.0089	10	0.17369	T	0.5	0.3425	6.5511	0.22433	0.0:0.3563:0.0:0.6437	.	173;173	A4UHQ8;P16383	.;GCF_HUMAN	Q	173	ENSP00000318690:E173Q;ENSP00000437767:E173Q	ENSP00000318690:E173Q	E	-	1	0	C2orf3	75782935	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.057000	0.14279	0.087000	0.17167	-0.469000	0.05056	GAG	GCFC2	-	NULL	ENSG00000005436		0.453	GCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCFC2	HGNC	protein_coding	OTTHUMT00000252255.2	128	0.00	0	C	NM_003203		75929427	75929427	-1	no_errors	ENST00000321027	ensembl	human	known	69_37n	missense	133	19.88	33	SNP	0.003	G
GCC2	9648	genome.wustl.edu	37	2	109087897	109087897	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:109087897G>C	ENST00000309863.6	+	6	2826	c.2112G>C	c.(2110-2112)ttG>ttC	p.L704F		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	704					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						AAAAACAGTTGAGTAGGGATT	0.318																																						dbGAP											0													120.0	150.0	140.0					2																	109087897		2202	4297	6499	-	-	-	SO:0001583	missense	0			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.2112G>C	2.37:g.109087897G>C	ENSP00000307939:p.Leu704Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP	p.L704F	ENST00000309863.6	37	c.2112	CCDS33268.1	2	.	.	.	.	.	.	.	.	.	.	G	7.749	0.703019	0.15172	.	.	ENSG00000135968	ENST00000309863;ENST00000409896;ENST00000393318	T	0.39056	1.1	5.5	4.63	0.57726	.	0.616036	0.15542	N	0.256915	T	0.41627	0.1167	M	0.64997	1.995	0.36890	D	0.889866	P	0.49635	0.926	P	0.44597	0.454	T	0.51593	-0.8686	10	0.52906	T	0.07	.	6.6946	0.23191	0.1603:0.0:0.6935:0.1463	.	704	Q8IWJ2	GCC2_HUMAN	F	704;667;448	ENSP00000307939:L704F	ENSP00000307939:L704F	L	+	3	2	GCC2	108454329	1.000000	0.71417	0.296000	0.24974	0.459000	0.32528	1.824000	0.39072	1.458000	0.47871	0.650000	0.86243	TTG	GCC2	-	NULL	ENSG00000135968		0.318	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	GCC2	HGNC	protein_coding	OTTHUMT00000358516.3	60	0.00	0	G	NM_014635		109087897	109087897	+1	no_errors	ENST00000309863	ensembl	human	known	69_37n	missense	65	18.75	15	SNP	0.632	C
GCN1L1	10985	genome.wustl.edu	37	12	120600722	120600722	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:120600722G>A	ENST00000300648.6	-	20	2104	c.2092C>T	c.(2092-2094)Cct>Tct	p.P698S		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	698					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AAGGCTTCAGGATCGATCTTC	0.562																																						dbGAP											0													93.0	91.0	92.0					12																	120600722		2001	4164	6165	-	-	-	SO:0001583	missense	0			U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.2092C>T	12.37:g.120600722G>A	ENSP00000300648:p.Pro698Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.P698S	ENST00000300648.6	37	c.2092	CCDS41847.1	12	.	.	.	.	.	.	.	.	.	.	G	13.87	2.365863	0.41902	.	.	ENSG00000089154	ENST00000300648	T	0.05996	3.36	5.08	5.08	0.68730	Armadillo-like helical (1);Domain of unknown function DUF3554 (1);Armadillo-type fold (1);	0.113005	0.64402	D	0.000010	T	0.09113	0.0225	L	0.56769	1.78	0.46437	D	0.999048	B	0.31256	0.316	B	0.26864	0.074	T	0.24512	-1.0158	10	0.20519	T	0.43	.	18.667	0.91493	0.0:0.0:1.0:0.0	.	698	Q92616	GCN1L_HUMAN	S	698	ENSP00000300648:P698S	ENSP00000300648:P698S	P	-	1	0	GCN1L1	119085105	1.000000	0.71417	0.941000	0.38009	0.992000	0.81027	4.761000	0.62243	2.652000	0.90054	0.655000	0.94253	CCT	GCN1L1	-	pfam_DUF3554,superfamily_ARM-type_fold	ENSG00000089154		0.562	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCN1L1	HGNC	protein_coding	OTTHUMT00000403592.1	59	0.00	0	G			120600722	120600722	-1	no_errors	ENST00000300648	ensembl	human	known	69_37n	missense	59	39.18	38	SNP	0.992	A
GCNT2	2651	genome.wustl.edu	37	6	10529249	10529249	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:10529249G>A	ENST00000379597.3	+	1	661	c.105G>A	c.(103-105)ctG>ctA	p.L35L	GCNT2_ENST00000495262.1_Silent_p.L35L|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	35					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)		AACGTTTTCTGAGGGCAGCTC	0.413																																						dbGAP											0													96.0	93.0	94.0					6																	10529249		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			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.105G>A	6.37:g.10529249G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Glyco_trans_14	p.L35	ENST00000379597.3	37	c.105	CCDS34338.1	6																																																																																			GCNT2	-	NULL	ENSG00000111846		0.413	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GCNT2	HGNC	protein_coding	OTTHUMT00000327912.3	97	0.00	0	G	NM_145649		10529249	10529249	+1	no_errors	ENST00000379597	ensembl	human	known	69_37n	silent	55	46.60	48	SNP	0.000	A
GCNT4	51301	genome.wustl.edu	37	5	74325484	74325484	+	Missense_Mutation	SNP	C	C	T	rs201693155		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:74325484C>T	ENST00000322348.4	-	1	1240	c.379G>A	c.(379-381)Gag>Aag	p.E127K		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	127					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|homeostasis of number of cells (GO:0048872)|inter-male aggressive behavior (GO:0002121)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|thyroid hormone metabolic process (GO:0042403)|tissue morphogenesis (GO:0048729)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		CTTTTCTCCTCCTTTGAGACA	0.393													c|||	1	0.000199681	0.0	0.0	5008	,	,		20951	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													134.0	129.0	131.0					5																	74325484		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF132035	CCDS4026.1	5q12	2013-02-25	2010-03-16		ENSG00000176928	ENSG00000176928	2.4.1.102	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	17973	protein-coding gene	gene with protein product	"""core 2 beta-1,6-N-acetylglucosaminyltransferase 3"", ""beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4"""		"""glucosaminyl (N-acetyl) transferase 4, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"""			10753916	Standard	NM_016591		Approved	C2GNT3	uc003kdn.3	Q9P109	OTTHUMG00000131272	ENST00000322348.4:c.379G>A	5.37:g.74325484C>T	ENSP00000317027:p.Glu127Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Glyco_trans_14	p.E127K	ENST00000322348.4	37	c.379	CCDS4026.1	5	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	.	11.01	1.512641	0.27123	.	.	ENSG00000176928	ENST00000322348	T	0.57595	0.39	6.17	5.3	0.74995	.	0.398038	0.28834	N	0.013991	T	0.53465	0.1798	M	0.75085	2.285	0.23192	N	0.99815	P	0.37914	0.611	B	0.33196	0.159	T	0.56786	-0.7921	10	0.72032	D	0.01	-9.4924	15.327	0.74172	0.0:0.9337:0.0:0.0663	.	127	Q9P109	GCNT4_HUMAN	K	127	ENSP00000317027:E127K	ENSP00000317027:E127K	E	-	1	0	GCNT4	74361240	0.998000	0.40836	0.034000	0.17996	0.239000	0.25481	3.991000	0.56973	1.620000	0.50308	0.655000	0.94253	GAG	GCNT4	-	NULL	ENSG00000176928		0.393	GCNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCNT4	HGNC	protein_coding	OTTHUMT00000254040.1	87	0.00	0	C	NM_016591		74325484	74325484	-1	no_errors	ENST00000322348	ensembl	human	known	69_37n	missense	59	32.18	28	SNP	0.389	T
GDA	9615	genome.wustl.edu	37	9	74838095	74838095	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:74838095G>C	ENST00000358399.3	+	7	759	c.666G>C	c.(664-666)ttG>ttC	p.L222F	GDA_ENST00000238018.4_Missense_Mutation_p.L222F|GDA_ENST00000376989.3_Intron|GDA_ENST00000477618.1_3'UTR|GDA_ENST00000545168.1_Missense_Mutation_p.L148F|GDA_ENST00000376986.1_Intron	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	222					guanine catabolic process (GO:0006147)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	guanine deaminase activity (GO:0008892)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		CTGAGACTTTGATGGGTGAAC	0.423																																						dbGAP											0													189.0	172.0	178.0					9																	74838095		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF095286	CCDS6641.1, CCDS56576.1, CCDS56577.1	9q21.13	2008-05-14			ENSG00000119125	ENSG00000119125			4212	protein-coding gene	gene with protein product		139260				10075721, 3966794	Standard	NM_001242507		Approved		uc004air.3	Q9Y2T3	OTTHUMG00000020005	ENST00000358399.3:c.666G>C	9.37:g.74838095G>C	ENSP00000351170:p.Leu222Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DTY5|Q5SZC7|Q9H335|Q9ULG2	Missense_Mutation	SNP	pfam_Amidohydro_1,tigrfam_Guanine_deaminase	p.L222F	ENST00000358399.3	37	c.666	CCDS6641.1	9	.	.	.	.	.	.	.	.	.	.	G	17.09	3.300136	0.60195	.	.	ENSG00000119125	ENST00000545168;ENST00000238018;ENST00000358399;ENST00000414671	D;D;D;D	0.90444	-2.67;-2.67;-2.67;-2.67	5.58	2.74	0.32292	Amidohydrolase 1 (1);	0.000000	0.85682	D	0.000000	D	0.94860	0.8339	M	0.89840	3.065	0.22479	N	0.999063	D;D	0.76494	0.998;0.999	P;D	0.71656	0.861;0.974	D	0.87818	0.2636	10	0.66056	D	0.02	-12.1751	7.9421	0.29965	0.3278:0.0:0.6722:0.0	.	222;222	Q9Y2T3-3;Q9Y2T3	.;GUAD_HUMAN	F	148;222;222;88	ENSP00000437972:L148F;ENSP00000238018:L222F;ENSP00000351170:L222F;ENSP00000403897:L88F	ENSP00000238018:L222F	L	+	3	2	GDA	74027915	0.997000	0.39634	0.525000	0.27900	0.932000	0.56968	1.736000	0.38187	0.728000	0.32382	0.655000	0.94253	TTG	GDA	-	pfam_Amidohydro_1,tigrfam_Guanine_deaminase	ENSG00000119125		0.423	GDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDA	HGNC	protein_coding	OTTHUMT00000052633.1	162	0.00	0	G			74838095	74838095	+1	no_errors	ENST00000238018	ensembl	human	known	69_37n	missense	133	18.90	31	SNP	0.101	C
GDF7	151449	genome.wustl.edu	37	2	20871056	20871056	+	Silent	SNP	C	C	T	rs376857749		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:20871056C>T	ENST00000272224.3	+	2	1800	c.1224C>T	c.(1222-1224)gaC>gaT	p.D408D		NM_182828.2	NP_878248.2	Q7Z4P5	GDF7_HUMAN	growth differentiation factor 7	408					activin receptor signaling pathway (GO:0032924)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|branching morphogenesis of an epithelial tube (GO:0048754)|cell fate commitment (GO:0045165)|epithelial cell differentiation (GO:0030855)|forebrain morphogenesis (GO:0048853)|gland morphogenesis (GO:0022612)|growth (GO:0040007)|midbrain development (GO:0030901)|morphogenesis of an epithelial fold (GO:0060571)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of tendon cell differentiation (GO:2001051)|positive regulation of transcription, DNA-templated (GO:0045893)|reproductive structure development (GO:0048608)|roof plate formation (GO:0021509)|spinal cord association neuron differentiation (GO:0021527)	extracellular space (GO:0005615)				breast(1)|cervix(1)|endometrium(2)|lung(1)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGCACCAGACGCGGCGCCGG	0.612																																						dbGAP											0													69.0	60.0	63.0					2																	20871056		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF522369	CCDS1701.1	2p24.1	2008-05-22			ENSG00000143869	ENSG00000143869			4222	protein-coding gene	gene with protein product		604651				10022976, 9808626	Standard	NM_182828		Approved	BMP12	uc002rdz.1	Q7Z4P5	OTTHUMG00000090781	ENST00000272224.3:c.1224C>T	2.37:g.20871056C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C	p.D408	ENST00000272224.3	37	c.1224	CCDS1701.1	2																																																																																			GDF7	-	pfam_TGF-b_C,smart_TGF-b_C	ENSG00000143869		0.612	GDF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF7	HGNC	protein_coding	OTTHUMT00000207563.2	24	0.00	0	C	NM_182828		20871056	20871056	+1	no_errors	ENST00000272224	ensembl	human	known	69_37n	silent	20	33.33	10	SNP	0.897	T
GDF9	2661	genome.wustl.edu	37	5	132197570	132197570	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:132197570C>G	ENST00000378673.2	-	3	1942	c.1076G>C	c.(1075-1077)aGa>aCa	p.R359T	GDF9_ENST00000464378.1_5'Flank|GDF9_ENST00000296875.2_Missense_Mutation_p.R359T			O60383	GDF9_HUMAN	growth differentiation factor 9	359					female gamete generation (GO:0007292)|negative regulation of cell growth (GO:0030308)|oocyte growth (GO:0001555)|positive regulation of cell proliferation (GO:0008284)|regulation of progesterone secretion (GO:2000870)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)			NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAAGCTAAGTCTAAAGTCATG	0.473																																						dbGAP											0													80.0	77.0	78.0					5																	132197570		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4162.1, CCDS75299.1	5q31.1	2014-01-30			ENSG00000164404	ENSG00000164404		"""Endogenous ligands"""	4224	protein-coding gene	gene with protein product		601918				7760846	Standard	NM_005260		Approved		uc003kxz.1	O60383	OTTHUMG00000059842	ENST00000378673.2:c.1076G>C	5.37:g.132197570C>G	ENSP00000367942:p.Arg359Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4VAW5	Missense_Mutation	SNP	pfam_TGF-b_C,smart_TGF-b_C	p.R359T	ENST00000378673.2	37	c.1076	CCDS4162.1	5	.	.	.	.	.	.	.	.	.	.	C	20.0	3.931275	0.73327	.	.	ENSG00000164404	ENST00000378673;ENST00000296875	D;D	0.88201	-2.35;-2.35	6.13	3.29	0.37713	Transforming growth factor-beta, C-terminal (3);	0.091864	0.64402	D	0.000001	D	0.89584	0.6757	L	0.37507	1.11	0.49213	D	0.999764	D	0.89917	1.0	D	0.68765	0.96	D	0.88677	0.3199	10	0.49607	T	0.09	.	9.8067	0.40797	0.1166:0.755:0.0:0.1284	.	359	O60383	GDF9_HUMAN	T	359	ENSP00000367942:R359T;ENSP00000296875:R359T	ENSP00000296875:R359T	R	-	2	0	GDF9	132225469	0.992000	0.36948	0.620000	0.29132	0.933000	0.57130	2.430000	0.44766	1.623000	0.50342	0.644000	0.83932	AGA	GDF9	-	pfam_TGF-b_C,smart_TGF-b_C	ENSG00000164404		0.473	GDF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF9	HGNC	protein_coding	OTTHUMT00000133060.2	24	0.00	0	C	NM_005260		132197570	132197570	-1	no_errors	ENST00000296875	ensembl	human	known	69_37n	missense	23	25.81	8	SNP	0.954	G
GET4	51608	genome.wustl.edu	37	7	933450	933450	+	Nonsense_Mutation	SNP	G	G	T	rs13237267		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:933450G>T	ENST00000265857.3	+	7	914	c.820G>T	c.(820-822)Gag>Tag	p.E274*	GET4_ENST00000407192.1_Nonsense_Mutation_p.E221*	NM_015949.2	NP_057033.2	Q7L5D6	GET4_HUMAN	golgi to ER traffic protein 4 homolog (S. cerevisiae)	274					tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)				breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CATGTACAACGAGGTGAGAGC	0.642																																						dbGAP											0													70.0	59.0	63.0					7																	933450		2203	4299	6502	-	-	-	SO:0001587	stop_gained	0			AK023560	CCDS5317.1	7p22.3	2010-08-05	2010-03-24	2010-03-24	ENSG00000239857	ENSG00000239857			21690	protein-coding gene	gene with protein product	"""CGI-20 protein"", ""conserved edge protein"", ""transmembrane domain recognition complex, 35kDa"""	612056	"""chromosome 7 open reading frame 20"""	C7orf20		10810093, 20106980, 20676083	Standard	NM_015949		Approved	CGI-20, H_NH1244M04.5, CEE, TRC35	uc003sjl.1	Q7L5D6	OTTHUMG00000112459	ENST00000265857.3:c.820G>T	7.37:g.933450G>T	ENSP00000265857:p.Glu274*	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D2Q1|B3KNC7|Q9UFC9|Q9Y309	Nonsense_Mutation	SNP	pfam_UPF0363	p.E274*	ENST00000265857.3	37	c.820	CCDS5317.1	7	.	.	.	.	.	.	.	.	.	.	g	54	22.279205	0.99947	.	.	ENSG00000239857	ENST00000265857;ENST00000407192	.	.	.	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-9.1061	18.2028	0.89844	0.0:0.0:1.0:0.0	.	.	.	.	X	274;221	.	ENSP00000265857:E274X	E	+	1	0	GET4	899976	1.000000	0.71417	0.999000	0.59377	0.310000	0.27922	9.378000	0.97191	2.295000	0.77249	0.486000	0.48141	GAG	GET4	-	pfam_UPF0363	ENSG00000239857		0.642	GET4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GET4	HGNC	protein_coding	OTTHUMT00000231930.1	27	0.00	0	G	NM_015949		933450	933450	+1	no_errors	ENST00000265857	ensembl	human	known	69_37n	nonsense	37	21.28	10	SNP	1.000	T
GFAP	2670	genome.wustl.edu	37	17	42985465	42985465	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:42985465G>A	ENST00000253408.5	-	8	1289	c.1224C>T	c.(1222-1224)atC>atT	p.I408I	GFAP_ENST00000588735.1_Silent_p.I34I	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	408	Tail.				astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|extracellular matrix organization (GO:0030198)|intermediate filament organization (GO:0045109)|long-term synaptic potentiation (GO:0060291)|negative regulation of neuron projection development (GO:0010977)|neuron projection regeneration (GO:0031102)|positive regulation of Schwann cell proliferation (GO:0010625)|regulation of neurotransmitter uptake (GO:0051580)|response to wounding (GO:0009611)	astrocyte projection (GO:0097449)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|membrane (GO:0016020)	structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				TCTTCACCACGATGTTCCTCT	0.587																																						dbGAP											0													234.0	197.0	210.0					17																	42985465		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			S40719	CCDS11491.1, CCDS45708.1, CCDS59296.1	17q21	2013-01-16						"""Intermediate filaments type III"""	4235	protein-coding gene	gene with protein product	"""intermediate filament protein"""	137780				9693047	Standard	NM_002055		Approved	FLJ45472	uc002ihq.3	P14136		ENST00000253408.5:c.1224C>T	17.37:g.42985465G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RD44|D3DX59|E9PAX3|Q53H98|Q5D055|Q6ZQS3|Q7Z5J6|Q7Z5J7|Q96KS4|Q96P18|Q9UFD0	Silent	SNP	pfam_F	p.I408	ENST00000253408.5	37	c.1224	CCDS11491.1	17																																																																																			GFAP	-	NULL	ENSG00000131095		0.587	GFAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFAP	HGNC	protein_coding	OTTHUMT00000448701.1	114	0.00	0	G	NM_002055		42985465	42985465	-1	no_errors	ENST00000253408	ensembl	human	known	69_37n	silent	57	38.04	35	SNP	0.974	A
GFM1	85476	genome.wustl.edu	37	3	158399941	158399941	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:158399941G>C	ENST00000486715.1	+	14	2116	c.1759G>C	c.(1759-1761)Gaa>Caa	p.E587Q	GFM1_ENST00000478576.1_Missense_Mutation_p.E587Q|GFM1_ENST00000264263.5_Missense_Mutation_p.E606Q	NM_024996.5	NP_079272.4			G elongation factor, mitochondrial 1											breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			GCCTGCTGTAGAAAAGGTAAA	0.343																																						dbGAP											0													44.0	44.0	44.0					3																	158399941		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF309777	CCDS33885.1	3q25	2008-02-05			ENSG00000168827	ENSG00000168827			13780	protein-coding gene	gene with protein product		606639	"""G translation elongation factor, mitochondrial"""			11374907, 11735030	Standard	NM_024996		Approved	EFGM, GFM, EGF1	uc003fce.3	Q96RP9	OTTHUMG00000158804	ENST00000486715.1:c.1759G>C	3.37:g.158399941G>C	ENSP00000419038:p.Glu587Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFG/EF2_IV,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Elongation_fac_G/III/V,smart_Transl_elong_EFG/EF2_IV,smart_Transl_elong_EFG/EF2_C,prints_ProtSyn_GTP-bd,tigrfam_Transl_elong_EFG/EF2,tigrfam_Small_GTP-bd_dom	p.E587Q	ENST00000486715.1	37	c.1759	CCDS33885.1	3	.	.	.	.	.	.	.	.	.	.	G	25.7	4.669010	0.88348	.	.	ENSG00000168827	ENST00000486715;ENST00000478576;ENST00000264263	T;T;T	0.33438	1.41;1.41;1.41	6.03	6.03	0.97812	Ribosomal protein S5 domain 2-type fold (1);Translation elongation factor EFG/EF2, domain IV (2);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.51227	0.1662	M	0.75085	2.285	0.80722	D	1	P;P;P	0.42337	0.776;0.599;0.599	P;P;P	0.50754	0.461;0.596;0.649	T	0.38929	-0.9638	10	0.45353	T	0.12	-8.9928	20.5568	0.99304	0.0:0.0:1.0:0.0	.	606;587;587	Q96RP9-2;Q96RP9;C9IZ01	.;EFGM_HUMAN;.	Q	587;587;606	ENSP00000419038:E587Q;ENSP00000418755:E587Q;ENSP00000264263:E606Q	ENSP00000264263:E606Q	E	+	1	0	GFM1	159882635	1.000000	0.71417	0.992000	0.48379	0.992000	0.81027	9.461000	0.97646	2.861000	0.98227	0.655000	0.94253	GAA	GFM1	-	pfam_Transl_elong_EFG/EF2_IV,superfamily_Ribosomal_S5_D2-typ_fold,smart_Transl_elong_EFG/EF2_IV,tigrfam_Transl_elong_EFG/EF2	ENSG00000168827		0.343	GFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFM1	HGNC	protein_coding	OTTHUMT00000352271.1	60	0.00	0	G	NM_024996		158399941	158399941	+1	no_errors	ENST00000486715	ensembl	human	known	69_37n	missense	58	17.14	12	SNP	1.000	C
GFOD2	81577	genome.wustl.edu	37	16	67719501	67719501	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:67719501C>T	ENST00000268797.7	-	2	463	c.118G>A	c.(118-120)Gag>Aag	p.E40K	GFOD2_ENST00000602377.1_5'UTR	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain containing 2	40					extracellular matrix organization (GO:0030198)	proteinaceous extracellular matrix (GO:0005578)	oxidoreductase activity (GO:0016491)			breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		TGCTTCGCCTCCTCCTCAGTC	0.577																																						dbGAP											0													89.0	70.0	77.0					16																	67719501		2198	4300	6498	-	-	-	SO:0001583	missense	0			AK074382	CCDS10845.1, CCDS59268.1	16q22.1	2008-02-05			ENSG00000141098	ENSG00000141098			28159	protein-coding gene	gene with protein product						12975309	Standard	NM_030819		Approved	FLJ23802, MGC11335	uc002eub.3	Q3B7J2	OTTHUMG00000137537	ENST00000268797.7:c.118G>A	16.37:g.67719501C>T	ENSP00000268797:p.Glu40Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q69YL9|Q6UXX6|Q7L648|Q8TE86|Q9BQ07|R4GNG5	Missense_Mutation	SNP	pfam_Oxidoreductase_N	p.E40K	ENST00000268797.7	37	c.118	CCDS10845.1	16	.	.	.	.	.	.	.	.	.	.	C	36	5.756987	0.96898	.	.	ENSG00000141098	ENST00000268797	T	0.20738	2.05	5.58	5.58	0.84498	Oxidoreductase, N-terminal (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.18087	0.0434	N	0.25992	0.78	0.80722	D	1	B	0.29212	0.237	B	0.35114	0.196	T	0.02705	-1.1121	10	0.06494	T	0.89	-33.8592	19.1593	0.93525	0.0:1.0:0.0:0.0	.	40	Q3B7J2	GFOD2_HUMAN	K	40	ENSP00000268797:E40K	ENSP00000268797:E40K	E	-	1	0	GFOD2	66277002	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.790000	0.85794	2.622000	0.88805	0.561000	0.74099	GAG	GFOD2	-	pfam_Oxidoreductase_N	ENSG00000141098		0.577	GFOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFOD2	HGNC	protein_coding	OTTHUMT00000268868.2	36	0.00	0	C	NM_030819		67719501	67719501	-1	no_errors	ENST00000268797	ensembl	human	known	69_37n	missense	39	26.42	14	SNP	1.000	T
GFPT2	9945	genome.wustl.edu	37	5	179757747	179757747	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:179757747C>T	ENST00000253778.8	-	6	656	c.487G>A	c.(487-489)Gag>Aag	p.E163K		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	163	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glutamine metabolic process (GO:0006541)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	GTAATGTCCTCAGTTTCTCTG	0.403																																						dbGAP											0													201.0	182.0	188.0					5																	179757747		1958	4148	6106	-	-	-	SO:0001583	missense	0			AB016789	CCDS43411.1	5q	2008-07-18			ENSG00000131459	ENSG00000131459			4242	protein-coding gene	gene with protein product	"""glutamine: fructose-6-phosphate aminotransferase 2"""	603865				10198162	Standard	NM_005110		Approved	GFAT2	uc003mlw.1	O94808	OTTHUMG00000163442	ENST00000253778.8:c.487G>A	5.37:g.179757747C>T	ENSP00000253778:p.Glu163Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53XM2|Q9BWS4	Missense_Mutation	SNP	pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans	p.E163K	ENST00000253778.8	37	c.487	CCDS43411.1	5	.	.	.	.	.	.	.	.	.	.	C	21.0	4.076162	0.76415	.	.	ENSG00000131459	ENST00000253778;ENST00000518906	T;T	0.77098	-1.07;-1.07	5.83	5.83	0.93111	Glutamine amidotransferase, type II (1);Glutamine amidotransferase, class-II (1);	0.192071	0.56097	D	0.000035	T	0.67116	0.2859	N	0.17631	0.505	0.80722	D	1	B	0.12013	0.005	B	0.15484	0.013	T	0.60265	-0.7297	9	.	.	.	-36.9281	20.1218	0.97964	0.0:1.0:0.0:0.0	.	163	O94808	GFPT2_HUMAN	K	163;65	ENSP00000253778:E163K;ENSP00000431125:E65K	.	E	-	1	0	GFPT2	179690353	1.000000	0.71417	0.970000	0.41538	0.989000	0.77384	4.734000	0.62043	2.763000	0.94921	0.561000	0.74099	GAG	GFPT2	-	pfam_GATase_dom	ENSG00000131459		0.403	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFPT2	HGNC	protein_coding	OTTHUMT00000373444.4	193	0.00	0	C	NM_005110		179757747	179757747	-1	no_errors	ENST00000253778	ensembl	human	known	69_37n	missense	123	28.07	48	SNP	1.000	T
GFRA1	2674	genome.wustl.edu	37	10	118029028	118029028	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:118029028G>C	ENST00000355422.6	-	4	955	c.405C>G	c.(403-405)gtC>gtG	p.V135V	GFRA1_ENST00000490345.1_5'Flank|GFRA1_ENST00000439649.3_Silent_p.V135V|GFRA1_ENST00000369236.1_Silent_p.V135V	NM_005264.4	NP_005255.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	135					axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)|receptor binding (GO:0005102)			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		ATATGAATGGGACCACCCGGA	0.413																																					Ovarian(128;329 1725 45498 46808 50759)	dbGAP											0													166.0	146.0	153.0					10																	118029028		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF038421	CCDS7593.1, CCDS44481.1	10q25-q26	2011-01-25			ENSG00000151892	ENSG00000151892			4243	protein-coding gene	gene with protein product		601496		GDNFRA		9465905, 9545641	Standard	NM_005264		Approved	RETL1, GDNFR, GFR-ALPHA-1, RET1L, TRNR1	uc001lcj.3	P56159	OTTHUMG00000019097	ENST00000355422.6:c.405C>G	10.37:g.118029028G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8KA21|O15507|O43912	Silent	SNP	pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt,prints_GDNF_rcpt_A1	p.V135	ENST00000355422.6	37	c.405	CCDS44481.1	10																																																																																			GFRA1	-	pirsf_Glial_neurotroph_fac_rcpt_a1/2	ENSG00000151892		0.413	GFRA1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	GFRA1	HGNC	protein_coding	OTTHUMT00000050512.2	118	0.00	0	G	NM_145793		118029028	118029028	-1	no_errors	ENST00000439649	ensembl	human	known	69_37n	silent	46	35.21	25	SNP	0.999	C
GGNBP2	79893	genome.wustl.edu	37	17	34935842	34935843	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:34935842_34935843insT	ENST00000304718.4	+	8	1329_1330	c.1013_1014insT	c.(1012-1017)agttttfs	p.SF338fs		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	338					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TTACGCAAGAGTTTTGAGGTAA	0.441																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF126964	CCDS11314.1	17q21.1	2014-05-06	2007-08-20	2007-08-20	ENSG00000005955	ENSG00000278311			19357	protein-coding gene	gene with protein product		612275	"""zinc finger protein 403"""	ZNF403		11728448	Standard	NM_024835		Approved	ZFP403, LZK1, FLJ22561, FLJ21230, DIF-3, DIF3	uc002hnb.3	Q9H3C7	OTTHUMG00000188440	ENST00000304718.4:c.1017dupT	17.37:g.34935846_34935846dupT	ENSP00000307617:p.Ser338fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPK7|Q96T90|Q9GZR8|Q9H767	Frame_Shift_Ins	INS	NULL	p.E340fs	ENST00000304718.4	37	c.1013_1014	CCDS11314.1	17																																																																																			GGNBP2	-	NULL	ENSG00000005955		0.441	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGNBP2	HGNC	protein_coding	OTTHUMT00000256684.2	53	0.00	0	-	NM_024835		34935842	34935843	+1	no_errors	ENST00000304718	ensembl	human	known	69_37n	frame_shift_ins	29	39.58	19	INS	1.000:1.000	T
GGPS1	9453	genome.wustl.edu	37	1	235505938	235505938	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:235505938G>A	ENST00000282841.5	+	4	986	c.754G>A	c.(754-756)Gag>Aag	p.E252K	GGPS1_ENST00000358966.2_Missense_Mutation_p.E252K|GGPS1_ENST00000488594.1_Missense_Mutation_p.E252K|GGPS1_ENST00000476121.1_Missense_Mutation_p.E252K|GGPS1_ENST00000391855.2_Missense_Mutation_p.E198K			O95749	GGPPS_HUMAN	geranylgeranyl diphosphate synthase 1	252					cholesterol biosynthetic process (GO:0006695)|farnesyl diphosphate biosynthetic process (GO:0045337)|geranyl diphosphate biosynthetic process (GO:0033384)|geranylgeranyl diphosphate biosynthetic process (GO:0033386)|isoprenoid metabolic process (GO:0006720)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	dimethylallyltranstransferase activity (GO:0004161)|farnesyltranstransferase activity (GO:0004311)|geranyltranstransferase activity (GO:0004337)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	8	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;1.39e-05)		Zoledronate(DB00399)	ACATTATCTTGAGGATGTAGG	0.403																																						dbGAP											0													59.0	62.0	61.0					1																	235505938		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB016043	CCDS1604.1	1q43	2010-04-27			ENSG00000152904	ENSG00000152904	2.5.1.1, 2.5.1.10, 2.5.1.29		4249	protein-coding gene	gene with protein product		606982				9741684, 10101267	Standard	NR_036605		Approved	GGPPS1	uc001hwv.3	O95749	OTTHUMG00000037963	ENST00000282841.5:c.754G>A	1.37:g.235505938G>A	ENSP00000282841:p.Glu252Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MVQ8|Q5T2C8|Q6NW19	Missense_Mutation	SNP	pfam_Polyprenyl_synt,superfamily_Terpenoid_synth	p.E252K	ENST00000282841.5	37	c.754	CCDS1604.1	1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.208266	0.58343	.	.	ENSG00000152904	ENST00000488594;ENST00000358966;ENST00000282841;ENST00000391855;ENST00000476121	T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02	6.17	4.31	0.51392	Terpenoid synthase (2);	0.042024	0.85682	N	0.000000	T	0.52933	0.1765	L	0.39397	1.21	0.80722	D	1	B	0.14805	0.011	B	0.21546	0.035	T	0.43925	-0.9361	10	0.27082	T	0.32	-12.1794	13.0971	0.59200	0.129:0.0:0.871:0.0	.	252	O95749	GGPPS_HUMAN	K	252;252;252;198;252	ENSP00000418690:E252K;ENSP00000351852:E252K;ENSP00000282841:E252K;ENSP00000375728:E198K;ENSP00000420183:E252K	ENSP00000282841:E252K	E	+	1	0	GGPS1	233572561	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	6.761000	0.74945	0.941000	0.37499	0.655000	0.94253	GAG	GGPS1	-	pfam_Polyprenyl_synt,superfamily_Terpenoid_synth	ENSG00000152904		0.403	GGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGPS1	HGNC	protein_coding	OTTHUMT00000092656.1	45	0.00	0	G	NM_004837		235505938	235505938	+1	no_errors	ENST00000282841	ensembl	human	known	69_37n	missense	39	36.07	22	SNP	1.000	A
GGT5	2687	genome.wustl.edu	37	22	24629553	24629553	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:24629553C>G	ENST00000327365.4	-	3	729	c.313G>C	c.(313-315)Gag>Cag	p.E105Q	GGT5_ENST00000398292.3_Missense_Mutation_p.E105Q|GGT5_ENST00000418439.2_Intron|GGT5_ENST00000263112.7_Intron	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	105					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						TTGATGACCTCCACCTTCCCT	0.642																																						dbGAP											0													19.0	20.0	20.0					22																	24629553		2201	4300	6501	-	-	-	SO:0001583	missense	0			M64099	CCDS13825.1, CCDS42989.1, CCDS42990.1	22q11.23	2008-03-25	2008-03-10	2008-03-10	ENSG00000099998	ENSG00000099998		"""Gamma-glutamyltransferases"""	4260	protein-coding gene	gene with protein product		137168	"""gamma-glutamyltransferase-like activity 1"""	GGTLA1		1676842, 8095916, 18357469	Standard	NM_004121		Approved	GGT-REL	uc002zzp.4	P36269	OTTHUMG00000150796	ENST00000327365.4:c.313G>C	22.37:g.24629553C>G	ENSP00000330080:p.Glu105Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53XM9|Q6GMP0|Q96FC1|Q9UFM5	Missense_Mutation	SNP	pfam_GGT_peptidase,prints_GGT_peptidase	p.E105Q	ENST00000327365.4	37	c.313	CCDS13825.1	22	.	.	.	.	.	.	.	.	.	.	C	20.7	4.030778	0.75504	.	.	ENSG00000099998	ENST00000327365;ENST00000438024;ENST00000398292	T;T	0.07021	3.23;3.23	4.43	4.43	0.53597	.	0.510236	0.21308	N	0.076699	T	0.14184	0.0343	L	0.55213	1.73	0.80722	D	1	B;P	0.49961	0.372;0.93	B;P	0.48738	0.309;0.588	T	0.05162	-1.0902	10	0.25106	T	0.35	-36.9558	15.0979	0.72250	0.0:1.0:0.0:0.0	.	105;105	Q6GMP0;P36269	.;GGT5_HUMAN	Q	105;20;105	ENSP00000330080:E105Q;ENSP00000381340:E105Q	ENSP00000330080:E105Q	E	-	1	0	GGT5	22959553	0.999000	0.42202	1.000000	0.80357	0.951000	0.60555	2.631000	0.46502	2.526000	0.85167	0.579000	0.79373	GAG	GGT5	-	pfam_GGT_peptidase	ENSG00000099998		0.642	GGT5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GGT5	HGNC	protein_coding	OTTHUMT00000320119.1	11	0.00	0	C	NM_004121		24629553	24629553	-1	no_errors	ENST00000398292	ensembl	human	known	69_37n	missense	13	27.78	5	SNP	1.000	G
GHR	2690	genome.wustl.edu	37	5	42711468	42711468	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:42711468G>A	ENST00000230882.4	+	7	968	c.778G>A	c.(778-780)Gaa>Aaa	p.E260K	GHR_ENST00000357703.3_Missense_Mutation_p.E238K|GHR_ENST00000537449.1_Missense_Mutation_p.E73K	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	260	Required for ADAM17-mediated proteolysis. {ECO:0000250}.				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)	ATTTACATGTGAAGAAGGTAA	0.393																																						dbGAP											0													112.0	114.0	114.0					5																	42711468		2203	4300	6503	-	-	-	SO:0001583	missense	0				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.778G>A	5.37:g.42711468G>A	ENSP00000230882:p.Glu260Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9HCX2	Missense_Mutation	SNP	pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.E260K	ENST00000230882.4	37	c.778	CCDS3940.1	5	.	.	.	.	.	.	.	.	.	.	G	20.1	3.938433	0.73557	.	.	ENSG00000112964	ENST00000230882;ENST00000357703;ENST00000356276;ENST00000537449	D;D;T	0.84589	-1.87;-1.73;-0.73	5.21	5.21	0.72293	.	0.134947	0.34652	N	0.003792	T	0.81908	0.4922	N	0.04705	-0.18	0.34452	D	0.700824	D	0.58268	0.982	D	0.67548	0.952	D	0.85045	0.0925	10	0.33141	T	0.24	-18.5535	12.3715	0.55258	0.0806:0.0:0.9194:0.0	.	260	P10912	GHR_HUMAN	K	260;238;260;73	ENSP00000230882:E260K;ENSP00000350335:E238K;ENSP00000442206:E73K	ENSP00000230882:E260K	E	+	1	0	GHR	42747225	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	2.937000	0.48979	2.405000	0.81733	0.655000	0.94253	GAA	GHR	-	NULL	ENSG00000112964		0.393	GHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GHR	HGNC	protein_coding	OTTHUMT00000211605.2	81	0.00	0	G	NM_000163		42711468	42711468	+1	no_errors	ENST00000230882	ensembl	human	known	69_37n	missense	40	47.37	36	SNP	1.000	A
GHRH	2691	genome.wustl.edu	37	20	35884893	35884893	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:35884893C>T	ENST00000373614.2	-	3	203	c.92G>A	c.(91-93)cGg>cAg	p.R31Q	GHRH_ENST00000237527.3_Missense_Mutation_p.R31Q|GHRH_ENST00000373611.2_Missense_Mutation_p.R31Q			P01286	SLIB_HUMAN	growth hormone releasing hormone	31					adenohypophysis development (GO:0021984)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP-mediated signaling (GO:0019933)|cell-cell signaling (GO:0007267)|growth hormone secretion (GO:0030252)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of circadian sleep/wake cycle, REM sleep (GO:0046005)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|response to food (GO:0032094)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|terminal bouton (GO:0043195)	growth hormone-releasing hormone activity (GO:0016608)|growth hormone-releasing hormone receptor binding (GO:0031770)			lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Myeloproliferative disorder(115;0.00878)				ATCTGCATACCGCCGCATCCT	0.627																																						dbGAP											0													53.0	47.0	49.0					20																	35884893		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13292.1, CCDS54460.1	20q11.2	2014-01-30			ENSG00000118702	ENSG00000118702		"""Endogenous ligands"""	4265	protein-coding gene	gene with protein product	"""sermorelin"", ""somatocrinin"", ""somatoliberin"""	139190		GHRF		3918305	Standard	NM_021081		Approved		uc002xgr.3	P01286	OTTHUMG00000032413	ENST00000373614.2:c.92G>A	20.37:g.35884893C>T	ENSP00000362716:p.Arg31Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4KN10|Q5JYR1	Missense_Mutation	SNP	pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP	p.R31Q	ENST00000373614.2	37	c.92	CCDS13292.1	20	.	.	.	.	.	.	.	.	.	.	C	35	5.497880	0.96355	.	.	ENSG00000118702	ENST00000373614;ENST00000237527;ENST00000373611	T;T;T	0.55052	0.55;0.55;0.54	5.0	5.0	0.66597	.	0.000000	0.51477	D	0.000086	T	0.62441	0.2428	L	0.36672	1.1	0.19575	N	0.999968	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.988	T	0.56372	-0.7990	10	0.87932	D	0	-8.0191	13.6775	0.62462	0.0:1.0:0.0:0.0	.	31;31	P01286-2;P01286	.;SLIB_HUMAN	Q	31	ENSP00000362716:R31Q;ENSP00000237527:R31Q;ENSP00000362713:R31Q	ENSP00000237527:R31Q	R	-	2	0	GHRH	35318307	0.495000	0.26051	0.077000	0.20336	0.904000	0.53231	5.114000	0.64648	2.604000	0.88044	0.643000	0.83706	CGG	GHRH	-	NULL	ENSG00000118702		0.627	GHRH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GHRH	HGNC	protein_coding	OTTHUMT00000079094.2	35	0.00	0	C			35884893	35884893	-1	no_errors	ENST00000237527	ensembl	human	known	69_37n	missense	45	21.05	12	SNP	0.103	T
GHSR	2693	genome.wustl.edu	37	3	172163232	172163232	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:172163232G>T	ENST00000241256.2	-	2	862	c.820C>A	c.(820-822)Ctc>Atc	p.L274I		NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	274					actin polymerization or depolymerization (GO:0008154)|adult feeding behavior (GO:0008343)|cellular response to insulin stimulus (GO:0032869)|decidualization (GO:0046697)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of hindgut contraction (GO:0043134)|regulation of synapse assembly (GO:0051963)|response to food (GO:0032094)|response to hormone (GO:0009725)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone secretagogue receptor activity (GO:0001616)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			AGCCAGCAGAGGATGAAGGCA	0.448																																					Esophageal Squamous(93;641 1401 20883 29581 34638)	dbGAP											0													50.0	50.0	50.0					3																	172163232		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY429112	CCDS3218.1, CCDS46959.1	3q26.31	2012-08-08			ENSG00000121853	ENSG00000121853		"""GPCR / Class A : Ghrelin receptors"""	4267	protein-coding gene	gene with protein product		601898				8688086	Standard	NM_198407		Approved		uc003fib.2	Q92847	OTTHUMG00000156946	ENST00000241256.2:c.820C>A	3.37:g.172163232G>T	ENSP00000241256:p.Leu274Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14D12|Q6ISR8|Q92848|Q96RJ7	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam,prints_GHS1_rcpt,prints_7TM_GPCR_Rhodpsn	p.L274I	ENST00000241256.2	37	c.820	CCDS3218.1	3	.	.	.	.	.	.	.	.	.	.	G	17.20	3.329464	0.60743	.	.	ENSG00000121853	ENST00000241256	T	0.37411	1.2	5.64	5.64	0.86602	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.30854	0.0778	N	0.13198	0.31	0.80722	D	1	P	0.40032	0.699	P	0.47786	0.557	T	0.01591	-1.1317	10	0.02654	T	1	-36.3314	19.8946	0.96949	0.0:0.0:1.0:0.0	.	274	Q92847	GHSR_HUMAN	I	274	ENSP00000241256:L274I	ENSP00000241256:L274I	L	-	1	0	GHSR	173645926	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.424000	0.73366	2.937000	0.99478	0.650000	0.86243	CTC	GHSR	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000121853		0.448	GHSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GHSR	HGNC	protein_coding	OTTHUMT00000346728.1	42	0.00	0	G	NM_004122		172163232	172163232	-1	no_errors	ENST00000241256	ensembl	human	known	69_37n	missense	52	23.53	16	SNP	1.000	T
GIMAP4	55303	genome.wustl.edu	37	7	150269546	150269546	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:150269546G>C	ENST00000255945.2	+	3	563	c.388G>C	c.(388-390)Gag>Cag	p.E130Q	GIMAP4_ENST00000494750.1_3'UTR|GIMAP4_ENST00000461940.1_Missense_Mutation_p.E144Q	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	130	AIG1-type G.					cytosol (GO:0005829)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CACTGAGGAAGAGCACAAAGC	0.488																																						dbGAP											0													82.0	79.0	80.0					7																	150269546		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001972	CCDS5904.1	7q36.1	2014-04-04			ENSG00000133574	ENSG00000133574		"""GTPases, IMAP"""	21872	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 1"""	608087				15474311, 18701445	Standard	NM_018326		Approved	HIMAP4, FLJ11110, IMAP4, IAN1	uc003whl.3	Q9NUV9	OTTHUMG00000157475	ENST00000255945.2:c.388G>C	7.37:g.150269546G>C	ENSP00000255945:p.Glu130Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_AIG1	p.E130Q	ENST00000255945.2	37	c.388	CCDS5904.1	7	.	.	.	.	.	.	.	.	.	.	G	16.67	3.187457	0.57909	.	.	ENSG00000133574	ENST00000255945;ENST00000461940;ENST00000479232	T;T;T	0.09163	3.01;3.01;3.01	4.72	4.72	0.59763	AIG1 (1);	0.111502	0.64402	D	0.000012	T	0.29914	0.0748	M	0.72576	2.205	0.47037	D	0.999298	D;D	0.67145	0.996;0.996	P;D	0.71414	0.866;0.973	T	0.00920	-1.1514	10	0.52906	T	0.07	.	13.0417	0.58904	0.0:0.0:1.0:0.0	.	144;130	G5E9W9;Q9NUV9	.;GIMA4_HUMAN	Q	130;144;144	ENSP00000255945:E130Q;ENSP00000419545:E144Q;ENSP00000418615:E144Q	ENSP00000255945:E130Q	E	+	1	0	GIMAP4	149900479	1.000000	0.71417	0.990000	0.47175	0.031000	0.12232	5.385000	0.66231	2.473000	0.83533	0.655000	0.94253	GAG	GIMAP4	-	pfam_AIG1	ENSG00000133574		0.488	GIMAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIMAP4	HGNC	protein_coding	OTTHUMT00000348927.1	36	0.00	0	G	NM_018326		150269546	150269546	+1	no_errors	ENST00000255945	ensembl	human	known	69_37n	missense	43	37.68	26	SNP	1.000	C
GIMAP8	155038	genome.wustl.edu	37	7	150171337	150171337	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:150171337C>A	ENST00000307271.3	+	4	1494	c.920C>A	c.(919-921)tCa>tAa	p.S307*		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	307	AIG1-type G 2.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CCGGACATCTCATCTTTAAAG	0.448																																						dbGAP											0													77.0	83.0	81.0					7																	150171337		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"""GTPases, IMAP"""	21792	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 9"""					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.920C>A	7.37:g.150171337C>A	ENSP00000305107:p.Ser307*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_AIG1	p.S307*	ENST00000307271.3	37	c.920	CCDS34777.1	7	.	.	.	.	.	.	.	.	.	.	C	39	7.547512	0.98352	.	.	ENSG00000171115	ENST00000307271	.	.	.	4.47	0.34	0.15985	.	0.447644	0.16564	N	0.208920	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	6.0718	0.19893	0.0:0.5186:0.0:0.4814	.	.	.	.	X	307	.	ENSP00000305107:S307X	S	+	2	0	GIMAP8	149802270	0.000000	0.05858	0.000000	0.03702	0.100000	0.18952	-1.355000	0.02612	0.177000	0.19895	0.650000	0.86243	TCA	GIMAP8	-	pfam_AIG1	ENSG00000171115		0.448	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIMAP8	HGNC	protein_coding	OTTHUMT00000350701.1	46	0.00	0	C	NM_175571		150171337	150171337	+1	no_errors	ENST00000307271	ensembl	human	known	69_37n	nonsense	72	16.28	14	SNP	0.000	A
GIMAP5	55340	genome.wustl.edu	37	7	150439311	150439311	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:150439311G>C	ENST00000358647.3	+	3	451	c.84G>C	c.(82-84)ttG>ttC	p.L28F	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2	Q96F15	GIMA5_HUMAN	GTPase, IMAP family member 5	28	AIG1-type G.				myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of T cell activation (GO:0050868)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0032831)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of membrane potential (GO:0045838)|positive regulation of natural killer cell cytokine production (GO:0002729)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|regulation of mitochondrial membrane permeability (GO:0046902)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|temperature homeostasis (GO:0001659)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CACCGGCATTGAGGATTATCC	0.468																																						dbGAP											0													78.0	71.0	73.0					7																	150439311		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK002158	CCDS5907.1	7q36.1	2014-04-04	2004-10-29	2004-10-30	ENSG00000196329	ENSG00000196329		"""GTPases, IMAP"""	18005	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 5"""	608086	"""immune associated nucleotide 4 like 1 (mouse)"""	IAN4L1			Standard	NM_018384		Approved	HIMAP3, IAN5		Q96F15	OTTHUMG00000157542	ENST00000358647.3:c.84G>C	7.37:g.150439311G>C	ENSP00000351473:p.Leu28Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DWZ5|Q6IA75|Q96NE4|Q9NUK9	Missense_Mutation	SNP	pfam_AIG1	p.L28F	ENST00000358647.3	37	c.84	CCDS5907.1	7	.	.	.	.	.	.	.	.	.	.	G	16.60	3.168493	0.57584	.	.	ENSG00000196329	ENST00000358647;ENST00000447239	T	0.35236	1.32	4.61	3.71	0.42584	AIG1 (1);	0.195110	0.33127	N	0.005243	T	0.66934	0.2840	H	0.95004	3.61	0.36053	D	0.840885	D	0.89917	1.0	D	0.97110	1.0	T	0.78250	-0.2277	10	0.72032	D	0.01	.	9.7393	0.40409	0.0:0.0:0.794:0.206	.	28	Q96F15	GIMA5_HUMAN	F	28;64	ENSP00000351473:L28F	ENSP00000351473:L28F	L	+	3	2	GIMAP5	150070244	1.000000	0.71417	0.988000	0.46212	0.613000	0.37349	3.028000	0.49705	1.118000	0.41863	0.655000	0.94253	TTG	GIMAP5	-	pfam_AIG1	ENSG00000196329		0.468	GIMAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIMAP5	HGNC	protein_coding	OTTHUMT00000349108.2	44	0.00	0	G	NM_018384		150439311	150439311	+1	no_errors	ENST00000358647	ensembl	human	known	69_37n	missense	40	11.11	5	SNP	1.000	C
GIP	2695	genome.wustl.edu	37	17	47041793	47041793	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:47041793G>C	ENST00000357424.2	-	3	236	c.136C>G	c.(136-138)Caa>Gaa	p.Q46E		NM_004123.2	NP_004114.1	P09681	GIP_HUMAN	gastric inhibitory polypeptide	46					adult locomotory behavior (GO:0008344)|cellular protein metabolic process (GO:0044267)|digestive system development (GO:0055123)|endocrine pancreas development (GO:0031018)|exploration behavior (GO:0035640)|female pregnancy (GO:0007565)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of glucagon secretion (GO:0070094)|positive regulation of glucose transport (GO:0010828)|positive regulation of insulin secretion (GO:0032024)|regulation of insulin secretion (GO:0050796)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to lipid (GO:0033993)|response to organic cyclic compound (GO:0014070)|response to peptide hormone (GO:0043434)|response to selenium ion (GO:0010269)|response to starvation (GO:0042594)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|triglyceride homeostasis (GO:0070328)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|secretory granule lumen (GO:0034774)	hormone activity (GO:0005179)			lung(2)|skin(1)|stomach(1)	4						CCTCGAGGTTGAGGGCTGCTC	0.557																																						dbGAP											0													115.0	101.0	106.0					17																	47041793		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11542.1	17q21.3-q22	2013-02-26			ENSG00000159224	ENSG00000159224		"""Endogenous ligands"""	4270	protein-coding gene	gene with protein product	"""glucose-dependent insulinotropic polypeptide"""	137240				2739653	Standard	NM_004123		Approved		uc002iol.1	P09681	OTTHUMG00000161171	ENST00000357424.2:c.136C>G	17.37:g.47041793G>C	ENSP00000350005:p.Gln46Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4VB42|Q6NTD3	Missense_Mutation	SNP	pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP	p.Q46E	ENST00000357424.2	37	c.136	CCDS11542.1	17	.	.	.	.	.	.	.	.	.	.	G	11.94	1.788066	0.31593	.	.	ENSG00000159224	ENST00000357424	T	0.21734	1.99	5.32	2.03	0.26663	.	1.332830	0.05214	N	0.507254	T	0.13586	0.0329	N	0.19112	0.55	0.09310	N	1	B	0.25105	0.118	B	0.19666	0.026	T	0.28681	-1.0036	10	0.52906	T	0.07	-9.0326	3.6399	0.08163	0.2073:0.0:0.595:0.1977	.	46	P09681	GIP_HUMAN	E	46	ENSP00000350005:Q46E	ENSP00000350005:Q46E	Q	-	1	0	GIP	44396792	0.758000	0.28405	0.079000	0.20413	0.109000	0.19521	1.118000	0.31246	0.785000	0.33685	0.563000	0.77884	CAA	GIP	-	NULL	ENSG00000159224		0.557	GIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIP	HGNC	protein_coding	OTTHUMT00000364044.1	90	0.00	0	G	NM_004123		47041793	47041793	-1	no_errors	ENST00000357424	ensembl	human	known	69_37n	missense	137	15.95	26	SNP	0.047	C
GJA8	2703	genome.wustl.edu	37	1	147380472	147380472	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:147380472G>A	ENST00000369235.1	+	1	390	c.390G>A	c.(388-390)aaG>aaA	p.K130K	GJA8_ENST00000240986.4_Silent_p.K130K			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	130					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GCAGCGTCAAGAAGAGCAGCG	0.622																																					Melanoma(76;1255 1795 8195 52096)	dbGAP											0													55.0	64.0	61.0					1																	147380472		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"""Ion channels / Gap junction proteins (connexins)"""	4281	protein-coding gene	gene with protein product	"""connexin 50"""	600897	"""gap junction protein, alpha 8, 50kD (connexin 50)"", ""gap junction protein, alpha 8, 50kDa (connexin 50)"""	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.390G>A	1.37:g.147380472G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A7L5M5|Q5VVN9|Q9NP25	Silent	SNP	pfam_Connexin_N,pfam_Connexin50,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin50	p.K130	ENST00000369235.1	37	c.390	CCDS30834.1	1																																																																																			GJA8	-	NULL	ENSG00000121634		0.622	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJA8	HGNC	protein_coding	OTTHUMT00000060647.1	51	0.00	0	G	NM_005267		147380472	147380472	+1	no_errors	ENST00000240986	ensembl	human	known	69_37n	silent	42	14.29	7	SNP	1.000	A
GJB1	2705	genome.wustl.edu	37	X	70443811	70443811	+	Missense_Mutation	SNP	C	C	G	rs104894823		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:70443811C>G	ENST00000374022.3	+	2	349	c.254C>G	c.(253-255)tCc>tGc	p.S85C	GJB1_ENST00000361726.6_Missense_Mutation_p.S85C|GJB1_ENST00000374029.1_Missense_Mutation_p.S85C	NM_001097642.2	NP_001091111.1	P08034	CXB1_HUMAN	gap junction protein, beta 1, 32kDa	85			S -> C (in CMTX1; mutant have a higher open probability than hemichannels formed of GJB1 wild-type). {ECO:0000269|PubMed:9361298}.|S -> F (in CMTX1). {ECO:0000269|PubMed:9361298}.		cell death (GO:0008219)|cell-cell signaling (GO:0007267)|gap junction assembly (GO:0016264)|membrane organization (GO:0061024)|nervous system development (GO:0007399)|protein oligomerization (GO:0051259)|purine ribonucleotide transport (GO:0015868)|transport (GO:0006810)	connexon complex (GO:0005922)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	gap junction channel activity (GO:0005243)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(1)	10	Renal(35;0.156)					ATCCTAGTTTCCACCCCAGCT	0.572																																						dbGAP											0			GRCh37	CM970662|CM973165	GJB1	M	rs104894823						103.0	71.0	82.0					X																	70443811		2203	4299	6502	-	-	-	SO:0001583	missense	0			X04325	CCDS14408.1	Xq13.1	2014-09-17	2007-01-16		ENSG00000169562	ENSG00000169562		"""Ion channels / Gap junction proteins (connexins)"""	4283	protein-coding gene	gene with protein product	"""Charcot-Marie-Tooth neuropathy, X-linked"", ""connexin 32"""	304040	"""gap junction protein, beta 1, 32kD (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked)"", ""gap junction protein, beta 1, 32kDa (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked)"", ""gap junction protein, beta 1, 32kDa (connexin 32)"""	CMTX1, CMTX		1319395	Standard	NM_000166		Approved	CX32	uc004dzf.3	P08034	OTTHUMG00000021797	ENST00000374022.3:c.254C>G	X.37:g.70443811C>G	ENSP00000363134:p.Ser85Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8R2|D3DVV2|Q5U0S4	Missense_Mutation	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin32	p.S85C	ENST00000374022.3	37	c.254	CCDS14408.1	X	.	.	.	.	.	.	.	.	.	.	C	15.58	2.876798	0.51801	.	.	ENSG00000169562	ENST00000374029;ENST00000374022;ENST00000361726	D;D;D	0.99277	-5.67;-5.67;-5.67	4.67	4.67	0.58626	Connexin, N-terminal (1);	0.055204	0.85682	D	0.000000	D	0.99248	0.9738	M	0.69358	2.11	0.80722	A	1	D	0.89917	1.0	D	0.79784	0.993	D	0.99461	1.0943	9	0.87932	D	0	.	16.9596	0.86269	0.0:1.0:0.0:0.0	.	85	P08034	CXB1_HUMAN	C	85	ENSP00000363141:S85C;ENSP00000363134:S85C;ENSP00000354900:S85C	ENSP00000354900:S85C	S	+	2	0	GJB1	70360536	1.000000	0.71417	0.449000	0.26957	0.432000	0.31715	7.648000	0.83479	2.181000	0.69327	0.521000	0.50471	TCC	GJB1	-	pfam_Connexin_N,prints_Connexin	ENSG00000169562		0.572	GJB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GJB1	HGNC	protein_coding	OTTHUMT00000057133.1	124	0.00	0	C	NM_000166		70443811	70443811	+1	no_errors	ENST00000361726	ensembl	human	known	69_37n	missense	144	17.71	31	SNP	1.000	G
GJB4	127534	genome.wustl.edu	37	1	35227254	35227254	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:35227254G>C	ENST00000339480.1	+	2	769	c.399G>C	c.(397-399)ctG>ctC	p.L133L	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	133					cell communication (GO:0007154)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				CGTACTTGCTGAGCCTCATCT	0.607																																						dbGAP											0													98.0	72.0	81.0					1																	35227254		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS383.1	1p35-p34	2008-05-14	2007-11-06		ENSG00000189433	ENSG00000189433		"""Ion channels / Gap junction proteins (connexins)"""	4286	protein-coding gene	gene with protein product	"""connexin 30.3"""	605425	"""gap junction protein, beta 4 (connexin 30.3)"", ""gap junction protein, beta 4"""				Standard	NM_153212		Approved	CX30.3	uc001bxv.1	Q9NTQ9	OTTHUMG00000004052	ENST00000339480.1:c.399G>C	1.37:g.35227254G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQ82	Silent	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin303	p.L133	ENST00000339480.1	37	c.399	CCDS383.1	1																																																																																			GJB4	-	prints_Connexin	ENSG00000189433		0.607	GJB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJB4	HGNC	protein_coding	OTTHUMT00000011560.1	44	0.00	0	G	NM_153212		35227254	35227254	+1	no_errors	ENST00000339480	ensembl	human	known	69_37n	silent	33	25.00	11	SNP	0.999	C
GJD4	219770	genome.wustl.edu	37	10	35894523	35894523	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:35894523C>G	ENST00000321660.1	+	1	186	c.28C>G	c.(28-30)Ctc>Gtc	p.L10V	RP11-425A6.5_ENST00000609313.1_RNA	NM_153368.2	NP_699199.2	Q96KN9	CXD4_HUMAN	gap junction protein, delta 4, 40.1kDa	10					cell communication (GO:0007154)|regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014717)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						GCTAGGGTTTCTCATCATCAC	0.512																																						dbGAP											0													206.0	169.0	181.0					10																	35894523		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ414564	CCDS7191.1	10p11.22	2007-11-27			ENSG00000177291	ENSG00000177291		"""Ion channels / Gap junction proteins (connexins)"""	23296	protein-coding gene	gene with protein product	"""connexin 40.1"""	611922				12477932	Standard	NM_153368		Approved	CX40.1, FLJ90023	uc001iyy.1	Q96KN9	OTTHUMG00000017957	ENST00000321660.1:c.28C>G	10.37:g.35894523C>G	ENSP00000315070:p.Leu10Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N2R7	Missense_Mutation	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin	p.L10V	ENST00000321660.1	37	c.28	CCDS7191.1	10	.	.	.	.	.	.	.	.	.	.	C	13.64	2.296330	0.40594	.	.	ENSG00000177291	ENST00000321660	D	0.99353	-5.77	5.76	5.76	0.90799	Connexin, N-terminal (1);	0.074390	0.53938	D	0.000044	D	0.99010	0.9662	M	0.69358	2.11	0.43642	D	0.996042	D	0.71674	0.998	D	0.69307	0.963	D	0.98383	1.0559	10	0.72032	D	0.01	.	7.5468	0.27772	0.0:0.8041:0.0:0.1959	.	10	Q96KN9	CXD4_HUMAN	V	10	ENSP00000315070:L10V	ENSP00000315070:L10V	L	+	1	0	GJD4	35934529	1.000000	0.71417	0.914000	0.36105	0.037000	0.13140	2.743000	0.47442	2.721000	0.93114	0.655000	0.94253	CTC	GJD4	-	pfam_Connexin_N	ENSG00000177291		0.512	GJD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJD4	HGNC	protein_coding	OTTHUMT00000047576.1	120	0.00	0	C	NM_153368		35894523	35894523	+1	no_errors	ENST00000321660	ensembl	human	known	69_37n	missense	81	30.77	36	SNP	1.000	G
GK5	256356	genome.wustl.edu	37	3	141917688	141917688	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:141917688G>A	ENST00000392993.2	-	5	650	c.499C>T	c.(499-501)Cag>Tag	p.Q167*	GK5_ENST00000544571.1_Nonsense_Mutation_p.Q167*	NM_001039547.2	NP_001034636.1	Q6ZS86	GLPK5_HUMAN	glycerol kinase 5 (putative)	167					glycerol catabolic process (GO:0019563)		ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370)			kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1)	10						AAAGAAGTCTGCTGGGTTGTG	0.348																																						dbGAP											0													93.0	93.0	93.0					3																	141917688		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BX648681	CCDS33871.1	3q23	2014-02-12	2006-09-21		ENSG00000175066	ENSG00000175066		"""Glycerol kinases"""	28635	protein-coding gene	gene with protein product						12477932	Standard	NM_001039547		Approved	MGC40579	uc003euq.2	Q6ZS86	OTTHUMG00000133572	ENST00000392993.2:c.499C>T	3.37:g.141917688G>A	ENSP00000418001:p.Gln167*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9I2|D3DNG2|Q8N2A7|Q8N5E6	Nonsense_Mutation	SNP	pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C	p.Q167*	ENST00000392993.2	37	c.499	CCDS33871.1	3	.	.	.	.	.	.	.	.	.	.	G	14.52	2.558621	0.45590	.	.	ENSG00000175066	ENST00000392993;ENST00000544571	.	.	.	5.33	5.33	0.75918	.	0.246207	0.47093	D	0.000255	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-3.3607	18.2305	0.89934	0.0:0.0:1.0:0.0	.	.	.	.	X	167	.	ENSP00000418001:Q167X	Q	-	1	0	GK5	143400378	1.000000	0.71417	0.992000	0.48379	0.268000	0.26511	5.636000	0.67848	2.680000	0.91292	0.644000	0.83932	CAG	GK5	-	pfam_Carb_kinase_FGGY_N	ENSG00000175066		0.348	GK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GK5	HGNC	protein_coding	OTTHUMT00000353999.1	177	0.00	0	G	NM_001039547		141917688	141917688	-1	no_errors	ENST00000392993	ensembl	human	known	69_37n	nonsense	152	17.30	32	SNP	1.000	A
GLB1L3	112937	genome.wustl.edu	37	11	134182722	134182722	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:134182722G>A	ENST00000431683.2	+	15	1441	c.1441G>A	c.(1441-1443)Gag>Aag	p.E481K		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	481					carbohydrate metabolic process (GO:0005975)		beta-galactosidase activity (GO:0004565)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		GTTTTTGGATGAGACAATGAT	0.512																																						dbGAP											0													82.0	80.0	81.0					11																	134182722		1897	4114	6011	-	-	-	SO:0001583	missense	0				CCDS44780.1	11q25	2008-11-06	2008-01-29		ENSG00000166105	ENSG00000166105			25147	protein-coding gene	gene with protein product						12477932	Standard	NM_001080407		Approved	FLJ90231	uc009zdf.3	Q8NCI6	OTTHUMG00000133524	ENST00000431683.2:c.1441G>A	11.37:g.134182722G>A	ENSP00000396615:p.Glu481Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEM0|A6NN15|Q6P3S3|Q96FF8	Missense_Mutation	SNP	pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35	p.E481K	ENST00000431683.2	37	c.1441	CCDS44780.1	11	.	.	.	.	.	.	.	.	.	.	G	8.350	0.830786	0.16820	.	.	ENSG00000166105	ENST00000431683	D	0.92545	-3.06	4.48	-1.04	0.10068	.	0.917832	0.09478	N	0.796704	T	0.79246	0.4413	N	0.16307	0.4	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.63233	-0.6683	10	0.13108	T	0.6	.	0.9563	0.01386	0.1822:0.1523:0.3534:0.3122	.	481	Q8NCI6	GLBL3_HUMAN	K	481	ENSP00000396615:E481K	ENSP00000396615:E481K	E	+	1	0	GLB1L3	133687932	0.940000	0.31905	0.152000	0.22495	0.060000	0.15804	1.379000	0.34340	-0.156000	0.11079	0.655000	0.94253	GAG	GLB1L3	-	NULL	ENSG00000166105		0.512	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	GLB1L3	HGNC	protein_coding	OTTHUMT00000393625.1	117	0.00	0	G	NM_138416		134182722	134182722	+1	no_errors	ENST00000431683	ensembl	human	known	69_37n	missense	102	21.54	28	SNP	0.179	A
GLB1L2	89944	genome.wustl.edu	37	11	134217273	134217273	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:134217273C>T	ENST00000535456.2	+	5	692	c.504C>T	c.(502-504)acC>acT	p.T168T	GLB1L2_ENST00000339772.7_Silent_p.T168T|GLB1L2_ENST00000389881.3_Silent_p.T168T|GLB1L2_ENST00000529077.1_3'UTR	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	168					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)	p.T168T(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		AGGGCTTCACCGAAGCAGTGG	0.507																																						dbGAP											1	Substitution - coding silent(1)	central_nervous_system(1)											290.0	283.0	285.0					11																	134217273		2201	4297	6498	-	-	-	SO:0001819	synonymous_variant	0				CCDS31724.1	11q25	2008-01-29			ENSG00000149328	ENSG00000149328			25129	protein-coding gene	gene with protein product						12975309	Standard	NM_138342		Approved		uc001qhp.3	Q8IW92	OTTHUMG00000167179	ENST00000535456.2:c.504C>T	11.37:g.134217273C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NCE6|Q6UX60|Q8NC62|Q8NCB3|Q8NCJ1|Q96HP3	Nonsense_Mutation	SNP	pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35	p.R107*	ENST00000535456.2	37	c.319	CCDS31724.1	11	.	.	.	.	.	.	.	.	.	.	C	9.123	1.009417	0.19277	.	.	ENSG00000149328	ENST00000525089	.	.	.	5.93	-11.9	0.00025	.	.	.	.	.	.	.	.	.	.	.	0.40028	D	0.975494	.	.	.	.	.	.	.	.	.	.	.	.	.	-19.0216	2.267	0.04081	0.334:0.0746:0.1849:0.4065	.	.	.	.	X	107	.	.	R	+	1	2	GLB1L2	133722483	0.000000	0.05858	0.000000	0.03702	0.960000	0.62799	-6.613000	0.00059	-2.593000	0.00455	-0.905000	0.02835	CGA	GLB1L2	-	pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF	ENSG00000149328		0.507	GLB1L2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GLB1L2	HGNC	protein_coding	OTTHUMT00000393629.2	81	0.00	0	C	NM_138342		134217273	134217273	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000525089	ensembl	human	putative	69_37n	nonsense	51	45.16	42	SNP	0.000	T
GLDN	342035	genome.wustl.edu	37	15	51693901	51693901	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:51693901C>G	ENST00000335449.6	+	9	1195	c.1139C>G	c.(1138-1140)tCt>tGt	p.S380C	GLDN_ENST00000396399.2_Missense_Mutation_p.S256C	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	380	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|microvillus organization (GO:0032528)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		TACAACAACTCTCTCTACTAC	0.493											OREG0023125	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													172.0	130.0	144.0					15																	51693901		2196	4293	6489	-	-	-	SO:0001583	missense	0			AY358144	CCDS10140.2	15q15.3	2008-02-05	2005-10-06	2005-10-06	ENSG00000186417	ENSG00000186417			29514	protein-coding gene	gene with protein product		608603	"""collomin"""	COLM		16039564, 12642876	Standard	XM_005254338		Approved	CRG-L2, CLOM, colmedin, UNC-112	uc002aba.3	Q6ZMI3	OTTHUMG00000131746	ENST00000335449.6:c.1139C>G	15.37:g.51693901C>G	ENSP00000335196:p.Ser380Cys	Somatic	979	WXS	Illumina GAIIx	Phase_IV	Q6UXZ7|Q7Z359	Missense_Mutation	SNP	pfam_Olfac-like,pfam_Collagen,smart_Olfac-like,pfscan_Olfac-like	p.S380C	ENST00000335449.6	37	c.1139	CCDS10140.2	15	.	.	.	.	.	.	.	.	.	.	C	17.10	3.303552	0.60195	.	.	ENSG00000186417	ENST00000335449;ENST00000396399;ENST00000537339	D;D	0.90620	-2.7;-2.7	5.5	2.3	0.28687	Olfactomedin-like (3);	0.176186	0.27759	N	0.017967	D	0.93311	0.7868	M	0.83774	2.66	0.40867	D	0.983889	D	0.64830	0.994	P	0.60068	0.868	D	0.92890	0.6330	10	0.72032	D	0.01	.	7.8806	0.29621	0.3509:0.5654:0.0:0.0837	.	380	Q6ZMI3	GLDN_HUMAN	C	380;256;256	ENSP00000335196:S380C;ENSP00000379681:S256C	ENSP00000335196:S380C	S	+	2	0	GLDN	49481193	0.817000	0.29147	0.792000	0.32020	0.930000	0.56654	1.233000	0.32648	1.299000	0.44798	-0.182000	0.12963	TCT	GLDN	-	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like	ENSG00000186417		0.493	GLDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLDN	HGNC	protein_coding	OTTHUMT00000254667.2	108	0.00	0	C	NM_181789		51693901	51693901	+1	no_errors	ENST00000335449	ensembl	human	known	69_37n	missense	91	17.12	19	SNP	0.930	G
GLG1	2734	genome.wustl.edu	37	16	74516973	74516973	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:74516973C>T	ENST00000422840.2	-	10	1620	c.1621G>A	c.(1621-1623)Gac>Aac	p.D541N	GLG1_ENST00000447066.2_Missense_Mutation_p.D530N|GLG1_ENST00000205061.5_Missense_Mutation_p.D541N	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	541					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						TGTTCACAGTCTTCTACCATC	0.413																																						dbGAP											0													142.0	135.0	138.0					16																	74516973		2198	4300	6498	-	-	-	SO:0001583	missense	0				CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"""golgi apparatus protein 1"""			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.1621G>A	16.37:g.74516973C>T	ENSP00000405984:p.Asp541Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Missense_Mutation	SNP	pfam_Cys-rich_GLG1_repeat	p.D541N	ENST00000422840.2	37	c.1621	CCDS45527.1	16	.	.	.	.	.	.	.	.	.	.	C	24.9	4.586201	0.86851	.	.	ENSG00000090863	ENST00000205061;ENST00000447066;ENST00000422840	.	.	.	6.03	6.03	0.97812	.	0.049785	0.85682	D	0.000000	T	0.53769	0.1817	N	0.25647	0.755	0.80722	D	1	B;B;B	0.29212	0.197;0.237;0.122	B;B;B	0.30943	0.11;0.122;0.101	T	0.45041	-0.9288	9	0.25106	T	0.35	-5.1802	20.5666	0.99351	0.0:1.0:0.0:0.0	.	541;541;530	Q92896;Q92896-2;B7Z8Y4	GSLG1_HUMAN;.;.	N	541;530;541	.	ENSP00000205061:D541N	D	-	1	0	GLG1	73074474	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.731000	0.84895	2.854000	0.98071	0.655000	0.94253	GAC	GLG1	-	pfam_Cys-rich_GLG1_repeat	ENSG00000090863		0.413	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GLG1	HGNC	protein_coding	OTTHUMT00000435750.1	120	0.00	0	C	NM_012201		74516973	74516973	-1	no_errors	ENST00000205061	ensembl	human	known	69_37n	missense	99	22.05	28	SNP	1.000	T
GLI1	2735	genome.wustl.edu	37	12	57857801	57857801	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:57857801C>A	ENST00000228682.2	+	3	211	c.120C>A	c.(118-120)ttC>ttA	p.F40L	GLI1_ENST00000546141.1_Intron|GLI1_ENST00000543426.1_Intron	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	40					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			GCCCGCCCTTCTGCCACCAAG	0.557																																					Pancreas(157;841 1936 10503 41495 50368)	dbGAP											0													173.0	175.0	174.0					12																	57857801		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.120C>A	12.37:g.57857801C>A	ENSP00000228682:p.Phe40Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F40L	ENST00000228682.2	37	c.120	CCDS8940.1	12	.	.	.	.	.	.	.	.	.	.	C	15.77	2.932278	0.52866	.	.	ENSG00000111087	ENST00000228682;ENST00000528432	T	0.14893	2.47	4.28	3.37	0.38596	.	0.149392	0.32204	N	0.006437	T	0.11707	0.0285	L	0.29908	0.895	0.80722	D	1	B	0.24882	0.113	B	0.19946	0.027	T	0.08066	-1.0740	10	0.66056	D	0.02	.	7.4087	0.27006	0.0:0.877:0.0:0.123	.	40	P08151	GLI1_HUMAN	L	40	ENSP00000228682:F40L	ENSP00000228682:F40L	F	+	3	2	GLI1	56144068	0.996000	0.38824	1.000000	0.80357	0.994000	0.84299	0.120000	0.15647	1.122000	0.41944	0.555000	0.69702	TTC	GLI1	-	NULL	ENSG00000111087		0.557	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLI1	HGNC	protein_coding	OTTHUMT00000394197.1	77	0.00	0	C	NM_005269		57857801	57857801	+1	no_errors	ENST00000228682	ensembl	human	known	69_37n	missense	72	15.29	13	SNP	1.000	A
GLI2	2736	genome.wustl.edu	37	2	121748027	121748027	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:121748027G>A	ENST00000452319.1	+	14	4597	c.4537G>A	c.(4537-4539)Gat>Aat	p.D1513N	GLI2_ENST00000314490.11_Intron|GLI2_ENST00000361492.4_Missense_Mutation_p.D1513N					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GATTGACTTCGATGCCATCAT	0.622																																						dbGAP											0													103.0	112.0	109.0					2																	121748027		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.4537G>A	2.37:g.121748027G>A	ENSP00000390436:p.Asp1513Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D1513N	ENST00000452319.1	37	c.4537	CCDS33283.1	2	.	.	.	.	.	.	.	.	.	.	G	27.9	4.874879	0.91664	.	.	ENSG00000074047	ENST00000452319;ENST00000361492	T;T	0.17054	2.3;2.3	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.44871	0.1314	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75020	0.967;0.985	T	0.46527	-0.9185	10	0.66056	D	0.02	.	18.2163	0.89886	0.0:0.0:1.0:0.0	.	1513;1168	P10070;P10070-2	GLI2_HUMAN;.	N	1513	ENSP00000390436:D1513N;ENSP00000354586:D1513N	ENSP00000354586:D1513N	D	+	1	0	GLI2	121464497	1.000000	0.71417	0.955000	0.39395	0.937000	0.57800	9.616000	0.98359	2.525000	0.85131	0.555000	0.69702	GAT	GLI2	-	NULL	ENSG00000074047		0.622	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	GLI2	HGNC	protein_coding	OTTHUMT00000332293.3	38	0.00	0	G	NM_005270		121748027	121748027	+1	no_errors	ENST00000361492	ensembl	human	known	69_37n	missense	51	20.31	13	SNP	1.000	A
GLI4	2738	genome.wustl.edu	37	8	144351663	144351663	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:144351663C>G	ENST00000523522.1	+	1	136	c.97C>G	c.(97-99)Cag>Gag	p.Q33E	GLI4_ENST00000344692.3_Missense_Mutation_p.Q33E|GLI4_ENST00000340042.1_Missense_Mutation_p.Q33E|GLI4_ENST00000521682.1_Missense_Mutation_p.Q33E|GLI4_ENST00000517468.1_Missense_Mutation_p.Q33E|ZFP41_ENST00000522452.1_Intron			P10075	GLI4_HUMAN	GLI family zinc finger 4	33					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(1)|lung(5)	9	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			CCACGAGCCTCAGCTTCACCT	0.632																																						dbGAP											0													190.0	178.0	182.0					8																	144351663		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6398.1	8q24.3	2013-01-08	2009-03-05		ENSG00000250571	ENSG00000250571		"""Zinc fingers, C2H2-type"""	4320	protein-coding gene	gene with protein product		165280	"""GLI-Kruppel family member GLI4"", ""glioma-associated oncogene family zinc finger 4"""			2850480	Standard	NM_138465		Approved	HKR4, ZNF928	uc003yxx.3	P10075	OTTHUMG00000164952	ENST00000523522.1:c.97C>G	8.37:g.144351663C>G	ENSP00000430987:p.Gln33Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96CK9	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q33E	ENST00000523522.1	37	c.97	CCDS6398.1	8	.	.	.	.	.	.	.	.	.	.	C	8.347	0.830044	0.16749	.	.	ENSG00000250571	ENST00000521682;ENST00000340042;ENST00000344692;ENST00000517468;ENST00000523522;ENST00000520021;ENST00000517530	T;T	0.05447	3.44;3.44	3.94	2.02	0.26589	.	.	.	.	.	T	0.03477	0.0100	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.45775	-0.9238	9	0.22706	T	0.39	.	4.8219	0.13394	0.0:0.6506:0.2255:0.1239	.	33	P10075	GLI4_HUMAN	E	33;33;33;33;33;33;10	ENSP00000345024:Q33E;ENSP00000430987:Q33E	ENSP00000345024:Q33E	Q	+	1	0	GLI4	144423038	0.000000	0.05858	0.003000	0.11579	0.512000	0.34134	0.624000	0.24462	0.737000	0.32582	0.563000	0.77884	CAG	GLI4	-	NULL	ENSG00000250571		0.632	GLI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLI4	HGNC	protein_coding	OTTHUMT00000381128.2	55	0.00	0	C			144351663	144351663	+1	no_errors	ENST00000340042	ensembl	human	known	69_37n	missense	33	71.30	82	SNP	0.008	G
GLIS1	148979	genome.wustl.edu	37	1	53972413	53972413	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:53972413G>A	ENST00000312233.2	-	10	2308	c.1742C>T	c.(1741-1743)gCg>gTg	p.A581V		NM_147193.2	NP_671726.2			GLIS family zinc finger 1											endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						CTGTGGCAGCGCTGTGGGGCA	0.647																																						dbGAP											0													51.0	48.0	49.0					1																	53972413		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK093474	CCDS582.1	1p32.3	2008-02-05			ENSG00000174332	ENSG00000174332		"""Zinc fingers, C2H2-type"""	29525	protein-coding gene	gene with protein product		610378				12042312, 14500813	Standard	NM_147193		Approved	FLJ36155	uc001cvr.1	Q8NBF1	OTTHUMG00000008079	ENST00000312233.2:c.1742C>T	1.37:g.53972413G>A	ENSP00000309653:p.Ala581Val	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A581V	ENST00000312233.2	37	c.1742	CCDS582.1	1	.	.	.	.	.	.	.	.	.	.	G	7.998	0.754746	0.15778	.	.	ENSG00000174332	ENST00000312233	T	0.10960	2.82	4.06	-1.96	0.07525	.	0.694765	0.12525	N	0.461285	T	0.05502	0.0145	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.33727	-0.9857	10	0.48119	T	0.1	.	3.5857	0.07970	0.4608:0.0:0.3612:0.178	.	581	Q8NBF1	GLIS1_HUMAN	V	581	ENSP00000309653:A581V	ENSP00000309653:A581V	A	-	2	0	GLIS1	53745001	0.000000	0.05858	0.002000	0.10522	0.278000	0.26855	0.229000	0.17833	-0.130000	0.11599	0.195000	0.17529	GCG	GLIS1	-	NULL	ENSG00000174332		0.647	GLIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLIS1	HGNC	protein_coding	OTTHUMT00000022109.1	28	0.00	0	G	NM_147193		53972413	53972413	-1	no_errors	ENST00000312233	ensembl	human	known	69_37n	missense	21	30.00	9	SNP	0.000	A
GLIS2	84662	genome.wustl.edu	37	16	4385105	4385105	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:4385105C>G	ENST00000262366.3	+	6	1388	c.567C>G	c.(565-567)gtC>gtG	p.V189V	RP11-295D4.1_ENST00000574705.1_RNA|PAM16_ENST00000577031.1_Intron|GLIS2_ENST00000433375.1_Silent_p.V189V			Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	189					cell differentiation (GO:0030154)|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 (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	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)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						TGGACCATGTCAACGATTACC	0.617																																						dbGAP											0													75.0	81.0	79.0					16																	4385105		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			AF325914	CCDS10511.1	16p13.3	2013-01-08			ENSG00000126603	ENSG00000126603		"""Zinc fingers, C2H2-type"""	29450	protein-coding gene	gene with protein product	"""nephrocystin-7"""	608539				11741991, 14500813, 17618285	Standard	NM_032575		Approved	NPHP7	uc002cwc.1	Q9BZE0	OTTHUMG00000129467	ENST00000262366.3:c.567C>G	16.37:g.4385105C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KX84	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V189	ENST00000262366.3	37	c.567	CCDS10511.1	16																																																																																			GLIS2	-	smart_Znf_C2H2-like	ENSG00000126603		0.617	GLIS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLIS2	HGNC	protein_coding	OTTHUMT00000251630.1	46	0.00	0	C	NM_032575		4385105	4385105	+1	no_errors	ENST00000262366	ensembl	human	known	69_37n	silent	39	30.36	17	SNP	1.000	G
GLMN	11146	genome.wustl.edu	37	1	92752094	92752094	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:92752094C>T	ENST00000370360.3	-	7	769	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K	GLMN_ENST00000534881.1_Missense_Mutation_p.E230K	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	230					muscle cell differentiation (GO:0042692)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of T cell proliferation (GO:0042130)|neural tube closure (GO:0001843)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of phosphorylation (GO:0042327)|regulation of gene expression, epigenetic (GO:0040029)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|vasculogenesis (GO:0001570)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul3-RING ubiquitin ligase complex (GO:0031463)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|cullin-RING ubiquitin ligase complex (GO:0031461)|intracellular (GO:0005622)	hepatocyte growth factor receptor binding (GO:0005171)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase inhibitor activity (GO:0055105)			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		CCACCTTCTTCAGACTGTTCA	0.328									Multiple Glomus Tumors (of the Skin), Familial																													dbGAP											0													97.0	99.0	98.0					1																	92752094		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Multiple Familial Glomangiomas, Hereditary Multiple Glomus Tumors, Familial Multiple Glomangiomatosis, Inherited Cutaneous Venous Anomalies, incl. Familial Multiple Glomangiomyoma	U73704	CCDS738.1	1p22.1	2008-02-05	2004-07-01		ENSG00000174842	ENSG00000174842			14373	protein-coding gene	gene with protein product		601749	"""venous malformation with glomus cells"""	VMGLOM		8955134	Standard	XM_005270400		Approved	FAP48, GLML, GVM, FKBPAP	uc001dor.3	Q92990	OTTHUMG00000010283	ENST00000370360.3:c.688G>A	1.37:g.92752094C>T	ENSP00000359385:p.Glu230Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VVC3|Q9BVE8	Missense_Mutation	SNP	pfam_YAP-bd/Alf4/glomulin	p.E230K	ENST00000370360.3	37	c.688	CCDS738.1	1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.837516	0.50951	.	.	ENSG00000174842	ENST00000370360;ENST00000534881	T;T	0.42900	0.96;0.96	5.81	4.9	0.64082	.	0.091506	0.85682	N	0.000000	T	0.29321	0.0730	M	0.64997	1.995	0.48236	D	0.999612	B;B	0.15473	0.013;0.004	B;B	0.24155	0.051;0.027	T	0.19943	-1.0290	10	0.52906	T	0.07	-6.9519	14.4821	0.67590	0.0:0.9289:0.0:0.0711	.	230;230	B4DJ85;Q92990	.;GLMN_HUMAN	K	230	ENSP00000359385:E230K;ENSP00000440156:E230K	ENSP00000359385:E230K	E	-	1	0	GLMN	92524682	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	3.687000	0.54692	1.456000	0.47831	0.650000	0.86243	GAA	GLMN	-	pfam_YAP-bd/Alf4/glomulin	ENSG00000174842		0.328	GLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLMN	HGNC	protein_coding	OTTHUMT00000028358.1	99	0.00	0	C	NM_007070		92752094	92752094	-1	no_errors	ENST00000370360	ensembl	human	known	69_37n	missense	56	28.21	22	SNP	1.000	T
GLOD4	51031	genome.wustl.edu	37	17	685409	685409	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:685409C>T	ENST00000301328.5	-	1	110	c.87G>A	c.(85-87)atG>atA	p.M29I	GLOD4_ENST00000301329.6_Missense_Mutation_p.M29I|RNMTL1_ENST00000304478.4_5'Flank|GLOD4_ENST00000536578.1_5'UTR			Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4	29						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CCTGCACCTTCATCCCCAGGA	0.667																																						dbGAP											0													16.0	18.0	17.0					17																	685409		2202	4298	6500	-	-	-	SO:0001583	missense	0			AF177342	CCDS32520.1	17p13.3	2008-02-05	2007-03-14	2007-03-14		ENSG00000167699			14111	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 25"""	C17orf25		11642406, 12528892	Standard	NM_016080		Approved	CGI-150, HC71	uc002fru.3	Q9HC38		ENST00000301328.5:c.87G>A	17.37:g.685409C>T	ENSP00000301328:p.Met29Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTG9|D3DTH1|Q96B89|Q9H3J8|Q9HC37|Q9NVN1	Missense_Mutation	SNP	NULL	p.M29I	ENST00000301328.5	37	c.87		17	.	.	.	.	.	.	.	.	.	.	C	28.5	4.928960	0.92389	.	.	ENSG00000167699	ENST00000301329;ENST00000397393;ENST00000301328	T;T	0.65549	-0.16;-0.16	5.04	5.04	0.67666	.	0.077980	0.85682	D	0.000000	D	0.84529	0.5492	M	0.93854	3.465	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.85130	0.945;0.997	D	0.88786	0.3274	10	0.87932	D	0	-22.2131	17.3199	0.87233	0.0:1.0:0.0:0.0	.	29;29	Q9HC38;Q9HC38-2	GLOD4_HUMAN;.	I	29;232;29	ENSP00000301329:M29I;ENSP00000301328:M29I	ENSP00000301328:M29I	M	-	3	0	GLOD4	632159	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	6.641000	0.74324	2.489000	0.83994	0.563000	0.77884	ATG	GLOD4	-	NULL	ENSG00000167699		0.667	GLOD4-005	KNOWN	basic	protein_coding	GLOD4	HGNC	protein_coding	OTTHUMT00000437190.1	11	0.00	0	C	NM_016080		685409	685409	-1	no_errors	ENST00000301328	ensembl	human	known	69_37n	missense	2	84.62	11	SNP	1.000	T
GLUD1	2746	genome.wustl.edu	37	10	88854358	88854358	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:88854358C>A	ENST00000277865.4	-	1	265	c.169G>T	c.(169-171)Gtg>Ttg	p.V57L	FAM35A_ENST00000298784.1_5'Flank|FAM35A_ENST00000298786.4_5'Flank|GLUD1_ENST00000544149.1_5'Flank|GLUD1_ENST00000537649.1_5'Flank	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	57					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamine metabolic process (GO:0006541)|positive regulation of insulin secretion (GO:0032024)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|tricarboxylic acid metabolic process (GO:0072350)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|identical protein binding (GO:0042802)|leucine binding (GO:0070728)|NAD+ binding (GO:0070403)			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					Hexachlorophene(DB00756)	CGGTCGGCCACCGCCTCGCTG	0.726																																						dbGAP											0													42.0	48.0	46.0					10																	88854358		2203	4300	6503	-	-	-	SO:0001583	missense	0			M20867	CCDS7382.1	10q23.2	2010-03-17			ENSG00000148672	ENSG00000148672	1.4.1.3		4335	protein-coding gene	gene with protein product		138130		GLUD		2757358	Standard	NM_005271		Approved	GDH	uc001keh.3	P00367	OTTHUMG00000018666	ENST00000277865.4:c.169G>T	10.37:g.88854358C>A	ENSP00000277865:p.Val57Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KV55|B4DGN5|Q5TBU3	Missense_Mutation	SNP	pfam_Glu/Leu/Phe/Val_DH_C,pfam_Glu/Leu/Phe/Val_DH_dimer_dom,smart_Glu/Leu/Phe/Val_DH_C,prints_Glu/Leu/Phe/Val_DH	p.V57L	ENST00000277865.4	37	c.169	CCDS7382.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.30|10.30	1.311341|1.311341	0.23821|0.23821	.|.	.|.	ENSG00000148672|ENSG00000148672	ENST00000394415|ENST00000277865	.|D	.|0.96459	.|-4.02	3.84|3.84	3.84|3.84	0.44239|0.44239	.|.	.|0.371383	.|0.26272	.|N	.|0.025325	D|D	0.90865|0.90865	0.7130|0.7130	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.04013	.|0.001	D|D	0.86553|0.86553	0.1836|0.1836	6|10	0.29301|0.12103	T|T	0.29|0.63	.|.	12.7808|12.7808	0.57476|0.57476	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|57	.|P00367	.|DHE3_HUMAN	V|L	30|57	.|ENSP00000277865:V57L	ENSP00000377937:G30V|ENSP00000277865:V57L	G|V	-|-	2|1	0|0	GLUD1|GLUD1	88844338|88844338	0.982000|0.982000	0.34865|0.34865	0.994000|0.994000	0.49952|0.49952	0.031000|0.031000	0.12232|0.12232	5.197000|5.197000	0.65141|0.65141	1.957000|1.957000	0.56846|0.56846	0.491000|0.491000	0.48974|0.48974	GGT|GTG	GLUD1	-	NULL	ENSG00000148672		0.726	GLUD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLUD1	HGNC	protein_coding	OTTHUMT00000049188.1	18	0.00	0	C	NM_005271		88854358	88854358	-1	no_errors	ENST00000277865	ensembl	human	known	69_37n	missense	3	57.14	4	SNP	1.000	A
GLYR1	84656	genome.wustl.edu	37	16	4873824	4873824	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:4873824C>T	ENST00000321919.9	-	6	698	c.622G>A	c.(622-624)Gag>Aag	p.E208K	GLYR1_ENST00000591451.1_Missense_Mutation_p.E208K|GLYR1_ENST00000586901.1_5'UTR|GLYR1_ENST00000436648.5_Missense_Mutation_p.E127K|GLYR1_ENST00000381983.3_Missense_Mutation_p.E208K	NM_032569.3	NP_115958	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	208					pentose-phosphate shunt (GO:0006098)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						CTCCTTACCTCGCTTGCGGTT	0.537																																						dbGAP											0													147.0	144.0	145.0					16																	4873824		2197	4300	6497	-	-	-	SO:0001583	missense	0			AF244907	CCDS10524.1	16p13.3	2010-02-17			ENSG00000140632	ENSG00000140632			24434	protein-coding gene	gene with protein product	"""nuclear protein 60kDa"""	610660				16352664	Standard	NM_032569		Approved	BM045, HIBDL, NP60, N-PAC	uc002cxx.4	Q49A26	OTTHUMG00000129530	ENST00000321919.9:c.622G>A	16.37:g.4873824C>T	ENSP00000322716:p.Glu208Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DL47|C9JJ40|C9JJ60|Q5U632|Q6P1Q2|Q6V3W7|Q9BTI1|Q9BXK2	Missense_Mutation	SNP	pfam_6PGDH_NADP-bd,pfam_PWWP,pfam_NADP_OxRdtase_F420,superfamily_6-PGluconate_DH_C-like,smart_PWWP,pfscan_PWWP	p.E208K	ENST00000321919.9	37	c.622	CCDS10524.1	16	.	.	.	.	.	.	.	.	.	.	C	15.84	2.952252	0.53293	.	.	ENSG00000140632	ENST00000321919;ENST00000381983;ENST00000436648	T;T;T	0.70282	-0.19;-0.14;-0.47	5.44	5.44	0.79542	.	0.300283	0.39615	N	0.001308	T	0.71492	0.3346	N	0.14661	0.345	0.58432	D	0.999999	B;P;D;B	0.59767	0.128;0.593;0.986;0.38	B;B;D;B	0.68192	0.016;0.062;0.956;0.057	T	0.67933	-0.5542	10	0.19590	T	0.45	-30.2621	18.3816	0.90453	0.0:1.0:0.0:0.0	.	127;208;208;208	Q49A26-5;Q49A26-3;Q49A26-2;Q49A26	.;.;.;GLYR1_HUMAN	K	208;208;127	ENSP00000322716:E208K;ENSP00000371413:E208K;ENSP00000390276:E127K	ENSP00000322716:E208K	E	-	1	0	GLYR1	4813825	0.999000	0.42202	0.984000	0.44739	0.562000	0.35680	5.105000	0.64591	2.703000	0.92315	0.591000	0.81541	GAG	GLYR1	-	NULL	ENSG00000140632		0.537	GLYR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GLYR1	HGNC	protein_coding	OTTHUMT00000251717.2	32	0.00	0	C	NM_032569		4873824	4873824	-1	no_errors	ENST00000321919	ensembl	human	known	69_37n	missense	17	45.16	14	SNP	0.997	T
GMIP	51291	genome.wustl.edu	37	19	19748735	19748735	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:19748735C>T	ENST00000203556.4	-	10	1058	c.921G>A	c.(919-921)ctG>ctA	p.L307L	GMIP_ENST00000445806.2_Silent_p.L307L|GMIP_ENST00000586269.1_5'Flank|GMIP_ENST00000587238.1_Silent_p.L307L	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	307					intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TCACCCGCCTCAGCACTTCAT	0.672																																						dbGAP											0													60.0	48.0	52.0					19																	19748735		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"""Rho GTPase activating proteins"""	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.921G>A	19.37:g.19748735C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVN9|B7ZLZ0	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom	p.L307	ENST00000203556.4	37	c.921	CCDS12408.1	19																																																																																			GMIP	-	NULL	ENSG00000089639		0.672	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMIP	HGNC	protein_coding	OTTHUMT00000460551.1	20	0.00	0	C	NM_016573		19748735	19748735	-1	no_errors	ENST00000203556	ensembl	human	known	69_37n	silent	8	38.46	5	SNP	0.994	T
GMIP	51291	genome.wustl.edu	37	19	19751358	19751358	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:19751358G>A	ENST00000203556.4	-	5	398	c.261C>T	c.(259-261)ctC>ctT	p.L87L	GMIP_ENST00000445806.2_Silent_p.L87L|GMIP_ENST00000587238.1_Silent_p.L87L	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	87					intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TTGTCCGAATGAGCCGCAAGT	0.582																																						dbGAP											0													91.0	85.0	87.0					19																	19751358		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"""Rho GTPase activating proteins"""	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.261C>T	19.37:g.19751358G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVN9|B7ZLZ0	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom	p.L87	ENST00000203556.4	37	c.261	CCDS12408.1	19																																																																																			GMIP	-	NULL	ENSG00000089639		0.582	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMIP	HGNC	protein_coding	OTTHUMT00000460551.1	88	0.00	0	G	NM_016573		19751358	19751358	-1	no_errors	ENST00000203556	ensembl	human	known	69_37n	silent	67	21.18	18	SNP	0.134	A
GMNC	647309	genome.wustl.edu	37	3	190573453	190573453	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:190573453G>A	ENST00000442080.1	-	5	635	c.636C>T	c.(634-636)ctC>ctT	p.L212L	GMNC_ENST00000479491.1_5'UTR	NM_001146686.2	NP_001140158.1	A6NCL1	GEMC1_HUMAN	geminin coiled-coil domain containing	212					cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA replication initiation (GO:0006270)	nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|endometrium(3)|skin(1)	5						GATGAGATGCGAGGGCACTGT	0.473																																						dbGAP											0													99.0	88.0	91.0					3																	190573453		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			BC031680	CCDS54697.1	3q28	2011-08-19	2011-08-19		ENSG00000205835	ENSG00000205835			40049	protein-coding gene	gene with protein product		614448				20383140, 20855966	Standard	NM_001146686		Approved	GEMC1	uc011bsl.1	A6NCL1	OTTHUMG00000156195	ENST00000442080.1:c.636C>T	3.37:g.190573453G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.L212	ENST00000442080.1	37	c.636	CCDS54697.1	3																																																																																			GMNC	-	NULL	ENSG00000205835		0.473	GMNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMNC	HGNC	protein_coding	OTTHUMT00000343364.1	131	0.00	0	G	NM_001146686		190573453	190573453	-1	no_errors	ENST00000442080	ensembl	human	known	69_37n	silent	115	17.86	25	SNP	0.000	A
GMPR2	51292	genome.wustl.edu	37	14	24707568	24707568	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:24707568G>C	ENST00000355299.4	+	9	1275	c.814G>C	c.(814-816)Gaa>Caa	p.E272Q	GMPR2_ENST00000559836.1_Missense_Mutation_p.E272Q|GMPR2_ENST00000456667.3_Missense_Mutation_p.E244Q|GMPR2_ENST00000559910.1_Missense_Mutation_p.E239Q|GMPR2_ENST00000557854.1_Missense_Mutation_p.E290Q|GMPR2_ENST00000348719.7_Missense_Mutation_p.E272Q|GMPR2_ENST00000399440.2_Missense_Mutation_p.E272Q|GMPR2_ENST00000420554.2_Missense_Mutation_p.E290Q|GMPR2_ENST00000559104.1_Missense_Mutation_p.E257Q	NM_001002000.1	NP_001002000.1	Q9P2T1	GMPR2_HUMAN	guanosine monophosphate reductase 2	272					GMP metabolic process (GO:0046037)|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)	cytosol (GO:0005829)|GMP reductase complex (GO:1902560)	GMP reductase activity (GO:0003920)|metal ion binding (GO:0046872)			large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(265;0.0181)		AATGAGTTCTGAAATGGCCAT	0.532																																						dbGAP											0													107.0	115.0	112.0					14																	24707568		2097	4234	6331	-	-	-	SO:0001583	missense	0				CCDS41935.1, CCDS45087.1, CCDS61419.1, CCDS73624.1	14q11.2	2006-11-24							4377	protein-coding gene	gene with protein product		610781					Standard	XM_005267742		Approved		uc001wnw.3	Q9P2T1		ENST00000355299.4:c.814G>C	14.37:g.24707568G>C	ENSP00000347449:p.Glu272Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DS66|Q567T0|Q6IAJ8|Q86T14	Missense_Mutation	SNP	pfam_IMP_DH_GMPRt,pfam_FMN-dep_DH,tigrfam_GMP_reduct1	p.E272Q	ENST00000355299.4	37	c.814	CCDS41935.1	14	.	.	.	.	.	.	.	.	.	.	G	23.7	4.450042	0.84101	.	.	ENSG00000100938	ENST00000355299;ENST00000421944;ENST00000420554;ENST00000399440;ENST00000348719;ENST00000456667	T;T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16;-1.16	6.17	6.17	0.99709	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	0.093317	0.64402	D	0.000001	T	0.73644	0.3613	L	0.37507	1.11	0.80722	D	1	B;P;P;P;P;P	0.41643	0.002;0.758;0.673;0.622;0.673;0.525	B;B;B;B;B;B	0.41412	0.001;0.356;0.207;0.132;0.207;0.113	T	0.70517	-0.4850	10	0.31617	T	0.26	-1.3025	19.6509	0.95805	0.0:0.0:1.0:0.0	.	109;244;272;290;274;272	Q86SZ5;Q86T14;Q6PKC0;Q9P2T1-2;Q7Z527;Q9P2T1	.;.;.;.;.;GMPR2_HUMAN	Q	272;272;290;272;272;244	ENSP00000347449:E272Q;ENSP00000392859:E290Q;ENSP00000382369:E272Q;ENSP00000334409:E272Q;ENSP00000405743:E244Q	ENSP00000334409:E272Q	E	+	1	0	GMPR2	23777408	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.864000	0.99589	2.941000	0.99782	0.655000	0.94253	GAA	GMPR2	-	pfam_IMP_DH_GMPRt,tigrfam_GMP_reduct1	ENSG00000100938		0.532	GMPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GMPR2	HGNC	protein_coding	OTTHUMT00000415821.2	106	0.00	0	G	NM_016576		24707568	24707568	+1	no_errors	ENST00000348719	ensembl	human	known	69_37n	missense	81	25.00	27	SNP	1.000	C
GMPS	8833	genome.wustl.edu	37	3	155621747	155621747	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:155621747C>G	ENST00000496455.2	+	4	755	c.420C>G	c.(418-420)ttC>ttG	p.F140L	GMPS_ENST00000295920.7_Missense_Mutation_p.F41L|GMPS_ENST00000476145.1_3'UTR	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	140	Glutamine amidotransferase type-1. {ECO:0000255|PROSITE-ProRule:PRU00605}.				glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|GMP synthase (glutamine-hydrolyzing) activity (GO:0003922)|GMP synthase activity (GO:0003921)|pyrophosphatase activity (GO:0016462)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamine(DB00130)	GTTCATTATTCAGGTATTACA	0.264			T	MLL	AML																																Ovarian(153;896 1876 4149 15499 28134)	dbGAP		Dom	yes		3	3q24	8833	guanine monphosphate synthetase		L	0													83.0	78.0	79.0					3																	155621747		1807	4065	5872	-	-	-	SO:0001583	missense	0			U10860	CCDS46941.1	3q25.31	2013-06-18	2013-06-18		ENSG00000163655	ENSG00000163655	6.3.5.2		4378	protein-coding gene	gene with protein product	"""GMP synthase"""	600358	"""guanine monphosphate synthetase"""			8089153, 9195163	Standard	NM_003875		Approved		uc003faq.3	P49915	OTTHUMG00000158551	ENST00000496455.2:c.420C>G	3.37:g.155621747C>G	ENSP00000419851:p.Phe140Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K639|B4DXV7|F8W720	Missense_Mutation	SNP	pfam_GATASE_1,pfam_GMP_synth_C,pfam_Peptidase_C26,pfam_NAD/GMP_synthase,pfam_QueC,pfam_Asn_synthase,pfam_tRNA-specific_2-thiouridylase,tigrfam_GMP_synth_N	p.F140L	ENST00000496455.2	37	c.420	CCDS46941.1	3	.	.	.	.	.	.	.	.	.	.	C	24.6	4.545568	0.86022	.	.	ENSG00000163655	ENST00000496455;ENST00000295920;ENST00000537975;ENST00000541628	D;D	0.89050	-2.46;-2.46	5.12	5.12	0.69794	Glutamine amidotransferase type 1 (2);GMP synthase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92928	0.7750	M	0.72624	2.21	0.80722	D	1	D;D	0.63046	0.991;0.992	P;P	0.57679	0.789;0.825	D	0.93292	0.6669	10	0.59425	D	0.04	-12.4787	18.9353	0.92583	0.0:1.0:0.0:0.0	.	41;140	F8W720;P49915	.;GUAA_HUMAN	L	140;41;89;140	ENSP00000419851:F140L;ENSP00000295920:F41L	ENSP00000295920:F41L	F	+	3	2	GMPS	157104441	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	2.926000	0.48892	2.542000	0.85734	0.460000	0.39030	TTC	GMPS	-	pfam_GATASE_1,pfam_Peptidase_C26,tigrfam_GMP_synth_N	ENSG00000163655		0.264	GMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMPS	HGNC	protein_coding	OTTHUMT00000351260.2	117	0.00	0	C			155621747	155621747	+1	no_errors	ENST00000496455	ensembl	human	known	69_37n	missense	198	13.91	32	SNP	1.000	G
GNA11	2767	genome.wustl.edu	37	19	3118977	3118977	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:3118977G>C	ENST00000078429.4	+	5	903	c.661G>C	c.(661-663)Gag>Cag	p.E221Q	GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA|AC005262.2_ENST00000585980.1_RNA	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	221					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		CCACTGCTTTGAGAACGTGAC	0.627			Mis		uveal melanoma																																	dbGAP		Dom	yes		19	19p13.3	2767	"""guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"""		E	0													148.0	119.0	129.0					19																	3118977		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF493900	CCDS12103.1	19p13.3	2014-02-04			ENSG00000088256	ENSG00000088256			4379	protein-coding gene	gene with protein product		139313	"""hypocalciuric hypercalcemia 2"""	HHC2		1302014, 23802516	Standard	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	P29992	OTTHUMG00000180631	ENST00000078429.4:c.661G>C	19.37:g.3118977G>C	ENSP00000078429:p.Glu221Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O15109|Q14350|Q6IB00	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_Q,prints_Fungi_GproteinA	p.E221Q	ENST00000078429.4	37	c.661	CCDS12103.1	19	.	.	.	.	.	.	.	.	.	.	.	14.66	2.601174	0.46423	.	.	ENSG00000088256	ENST00000078429	D	0.89875	-2.58	3.26	3.26	0.37387	.	0.079831	0.48286	U	0.000185	D	0.87128	0.6100	M	0.67569	2.06	0.58432	D	0.999999	B	0.34329	0.449	B	0.33521	0.165	D	0.88385	0.3004	10	0.87932	D	0	.	13.442	0.61119	0.0:0.0:1.0:0.0	.	221	P29992	GNA11_HUMAN	Q	221	ENSP00000078429:E221Q	ENSP00000078429:E221Q	E	+	1	0	GNA11	3069977	1.000000	0.71417	0.985000	0.45067	0.283000	0.27025	9.618000	0.98365	1.532000	0.49169	0.462000	0.41574	GAG	GNA11	-	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,smart_Gprotein_alpha_su	ENSG00000088256		0.627	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNA11	HGNC	protein_coding	OTTHUMT00000452261.2	92	0.00	0	G	NM_002067		3118977	3118977	+1	no_errors	ENST00000078429	ensembl	human	known	69_37n	missense	73	22.34	21	SNP	1.000	C
GNA12	2768	genome.wustl.edu	37	7	2770816	2770816	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:2770816C>T	ENST00000275364.3	-	4	1307	c.1145G>A	c.(1144-1146)tGa>tAa	p.*382*	GNA12_ENST00000491117.1_5'UTR|AMZ1_ENST00000489665.1_Intron|GNA12_ENST00000396960.3_Silent_p.*234*|GNA12_ENST00000544127.1_Silent_p.*289*|GNA12_ENST00000407653.1_Silent_p.*306*|GNA12_ENST00000407904.3_Silent_p.*323*	NM_007353.2	NP_031379.2	Q03113	GNA12_HUMAN	guanine nucleotide binding protein (G protein) alpha 12	0					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|embryonic digit morphogenesis (GO:0042733)|G-protein coupled receptor signaling pathway (GO:0007186)|in utero embryonic development (GO:0001701)|platelet activation (GO:0030168)|regulation of cell shape (GO:0008360)|regulation of fibroblast migration (GO:0010762)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of TOR signaling (GO:0032006)|response to drug (GO:0042493)|Rho protein signal transduction (GO:0007266)	brush border membrane (GO:0031526)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.02e-13)		CTTCCTCGCTCACTGCAGCAT	0.577																																						dbGAP											0													94.0	87.0	89.0					7																	2770816		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L01694	CCDS5335.1, CCDS64584.1, CCDS64583.1	7p22.3	2006-07-08			ENSG00000146535	ENSG00000146535			4380	protein-coding gene	gene with protein product		604394				8423800, 16247467	Standard	NM_007353		Approved	gep	uc003smu.3	Q03113	OTTHUMG00000023064	ENST00000275364.3:c.1145G>A	7.37:g.2770816C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D204|B3KXS2|B7Z3F7|Q2T9L1|Q5PPR5|Q86UM8|Q8TD71|Q9UDU9	Silent	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha12	p.*382	ENST00000275364.3	37	c.1145	CCDS5335.1	7																																																																																			GNA12	-	NULL	ENSG00000146535		0.577	GNA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNA12	HGNC	protein_coding	OTTHUMT00000241608.1	35	0.00	0	C	NM_007353		2770816	2770816	-1	no_errors	ENST00000275364	ensembl	human	known	69_37n	silent	42	23.64	13	SNP	1.000	T
GNA12	2768	genome.wustl.edu	37	7	2771103	2771103	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:2771103G>A	ENST00000275364.3	-	4	1020	c.858C>T	c.(856-858)ttC>ttT	p.F286F	GNA12_ENST00000491117.1_5'UTR|AMZ1_ENST00000489665.1_Intron|GNA12_ENST00000396960.3_Silent_p.F138F|GNA12_ENST00000544127.1_Silent_p.F193F|GNA12_ENST00000407653.1_Silent_p.F210F|GNA12_ENST00000407904.3_Silent_p.F227F	NM_007353.2	NP_031379.2	Q03113	GNA12_HUMAN	guanine nucleotide binding protein (G protein) alpha 12	286					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|embryonic digit morphogenesis (GO:0042733)|G-protein coupled receptor signaling pathway (GO:0007186)|in utero embryonic development (GO:0001701)|platelet activation (GO:0030168)|regulation of cell shape (GO:0008360)|regulation of fibroblast migration (GO:0010762)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of TOR signaling (GO:0032006)|response to drug (GO:0042493)|Rho protein signal transduction (GO:0007266)	brush border membrane (GO:0031526)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.02e-13)		AGACGTTGAAGAAGAGCTTGT	0.552																																						dbGAP											0													163.0	120.0	135.0					7																	2771103		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L01694	CCDS5335.1, CCDS64584.1, CCDS64583.1	7p22.3	2006-07-08			ENSG00000146535	ENSG00000146535			4380	protein-coding gene	gene with protein product		604394				8423800, 16247467	Standard	NM_007353		Approved	gep	uc003smu.3	Q03113	OTTHUMG00000023064	ENST00000275364.3:c.858C>T	7.37:g.2771103G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D204|B3KXS2|B7Z3F7|Q2T9L1|Q5PPR5|Q86UM8|Q8TD71|Q9UDU9	Silent	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha12	p.F286	ENST00000275364.3	37	c.858	CCDS5335.1	7																																																																																			GNA12	-	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,smart_Gprotein_alpha_su	ENSG00000146535		0.552	GNA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNA12	HGNC	protein_coding	OTTHUMT00000241608.1	60	0.00	0	G	NM_007353		2771103	2771103	-1	no_errors	ENST00000275364	ensembl	human	known	69_37n	silent	52	22.39	15	SNP	1.000	A
GNB1L	54584	genome.wustl.edu	37	22	19794230	19794230	+	Silent	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:19794230C>A	ENST00000329517.6	-	6	704	c.468G>T	c.(466-468)ccG>ccT	p.P156P	GNB1L_ENST00000405009.1_Silent_p.P156P|GNB1L_ENST00000403325.1_Silent_p.P156P|GNB1L_ENST00000460402.1_5'UTR	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1-like	156					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|social behavior (GO:0035176)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)				breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					CATCTGCCTTCGGCTTCAGGG	0.622																																						dbGAP											0													52.0	42.0	46.0					22																	19794230		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF238328	CCDS13768.1	22q11.2	2013-05-21			ENSG00000185838	ENSG00000185838		"""WD repeat domain containing"""	4397	protein-coding gene	gene with protein product		610778				11072084	Standard	NM_053004		Approved	GY2, WDR14	uc002zqf.1	Q9BYB4	OTTHUMG00000150279	ENST00000329517.6:c.468G>T	22.37:g.19794230C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H2S2|Q9H4M4	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P156	ENST00000329517.6	37	c.468	CCDS13768.1	22																																																																																			GNB1L	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000185838		0.622	GNB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNB1L	HGNC	protein_coding	OTTHUMT00000075202.1	32	0.00	0	C			19794230	19794230	-1	no_errors	ENST00000329517	ensembl	human	known	69_37n	silent	41	22.64	12	SNP	0.958	A
GNB1L	54584	genome.wustl.edu	37	22	19808817	19808817	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:19808817G>A	ENST00000329517.6	-	3	298	c.62C>T	c.(61-63)tCa>tTa	p.S21L	GNB1L_ENST00000405009.1_Missense_Mutation_p.S21L|GNB1L_ENST00000403325.1_Missense_Mutation_p.S21L|GNB1L_ENST00000460402.1_Intron	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1-like	21					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|social behavior (GO:0035176)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)				breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					ATGCACCGGTGACTGGGTGCC	0.692																																						dbGAP											0													52.0	63.0	59.0					22																	19808817		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF238328	CCDS13768.1	22q11.2	2013-05-21			ENSG00000185838	ENSG00000185838		"""WD repeat domain containing"""	4397	protein-coding gene	gene with protein product		610778				11072084	Standard	NM_053004		Approved	GY2, WDR14	uc002zqf.1	Q9BYB4	OTTHUMG00000150279	ENST00000329517.6:c.62C>T	22.37:g.19808817G>A	ENSP00000331313:p.Ser21Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H2S2|Q9H4M4	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S21L	ENST00000329517.6	37	c.62	CCDS13768.1	22	.	.	.	.	.	.	.	.	.	.	G	15.90	2.970432	0.53614	.	.	ENSG00000185838	ENST00000329517;ENST00000403325;ENST00000405009;ENST00000453108	T;T;T;T	0.62788	0.0;0.0;4.92;1.2	5.03	5.03	0.67393	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.197924	0.31071	U	0.008305	T	0.64768	0.2628	M	0.72894	2.215	0.18873	N	0.999985	P	0.40360	0.714	B	0.43990	0.438	T	0.60647	-0.7222	10	0.35671	T	0.21	-6.0203	12.169	0.54146	0.0:0.0:0.8294:0.1706	.	21	Q9BYB4	GNB1L_HUMAN	L	21	ENSP00000331313:S21L;ENSP00000385154:S21L;ENSP00000384626:S21L;ENSP00000389412:S21L	ENSP00000331313:S21L	S	-	2	0	GNB1L	18188817	0.959000	0.32827	0.692000	0.30179	0.387000	0.30353	4.470000	0.60175	2.330000	0.79161	0.313000	0.20887	TCA	GNB1L	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000185838		0.692	GNB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNB1L	HGNC	protein_coding	OTTHUMT00000075202.1	17	0.00	0	G			19808817	19808817	-1	no_errors	ENST00000329517	ensembl	human	known	69_37n	missense	21	30.00	9	SNP	0.294	A
GNB2L1	10399	genome.wustl.edu	37	5	180668564	180668564	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:180668564C>A	ENST00000512805.1	-	3	765	c.357G>T	c.(355-357)caG>caT	p.Q119H	GNB2L1_ENST00000514455.1_5'Flank|GNB2L1_ENST00000376817.4_Missense_Mutation_p.Q75H|GNB2L1_ENST00000511900.1_Intron|SNORD96A_ENST00000606577.1_RNA|GNB2L1_ENST00000504726.1_Intron|SNORD95_ENST00000579879.1_RNA|GNB2L1_ENST00000505461.1_5'UTR|GNB2L1_ENST00000511566.1_Missense_Mutation_p.Q119H|GNB2L1_ENST00000456394.2_Missense_Mutation_p.Q119H	NM_006098.4	NP_006089.1	P63244	GBLP_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1	119					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cell cycle (GO:0007049)|gastrulation (GO:0007369)|negative regulation of cell growth (GO:0030308)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced neuron death (GO:1903208)|negative regulation of phagocytosis (GO:0050765)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of translation (GO:0017148)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of cell migration (GO:0030335)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|positive regulation of gastrulation (GO:2000543)|positive regulation of GTPase activity (GO:0043547)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein phosphorylation (GO:0001934)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of protein localization (GO:0032880)|rhythmic process (GO:0048511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|phagocytic cup (GO:0001891)|small ribosomal subunit (GO:0015935)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|ion channel inhibitor activity (GO:0008200)|poly(A) RNA binding (GO:0044822)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase inhibitor activity (GO:0030292)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|SH2 domain binding (GO:0042169)			lung(3)|skin(2)	5	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;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11)		CAGAGACAATCTGCCGGTTGT	0.512																																						dbGAP											0													147.0	139.0	142.0					5																	180668564		2203	4300	6503	-	-	-	SO:0001583	missense	0			M24194	CCDS34324.1	5q35.3	2013-01-10				ENSG00000204628		"""WD repeat domain containing"""	4399	protein-coding gene	gene with protein product	"""Receptor for Activated C Kinase 1"""	176981				8302854, 2499885	Standard	NM_006098		Approved	Gnb2-rs1, RACK1, H12.3	uc003mni.1	P63244		ENST00000512805.1:c.357G>T	5.37:g.180668564C>A	ENSP00000426909:p.Gln119His	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KTJ0|D3DWS0|P25388|P99049|Q53HU2|Q5J8M6|Q5VLR4|Q6FH47	Splice_Site	SNP	-	e3-1	ENST00000512805.1	37	c.282-1	CCDS34324.1	5	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	C|C|C|C	15.02|15.02|15.02|15.02	2.709802|2.709802|2.709802|2.709802	0.48517|0.48517|0.48517|0.48517	.|.|.|.	.|.|.|.	ENSG00000204628|ENSG00000204628|ENSG00000204628|ENSG00000204628	ENST00000512968;ENST00000503081|ENST00000502905;ENST00000504128|ENST00000511566;ENST00000376817;ENST00000512805;ENST00000510199;ENST00000502844;ENST00000507000;ENST00000513027;ENST00000456394|ENST00000507756	.|.|T;T;T;T;T;T;T;T|.	.|.|0.59502|.	.|.|0.26;0.26;0.26;0.26;0.26;0.26;0.26;0.26|.	5.88|5.88|5.88|5.88	-0.542|-0.542|-0.542|-0.542	0.11854|0.11854|0.11854|0.11854	.|.|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|T|T	.|0.44705|0.44705|0.44705	.|0.1306|0.1306|0.1306	N|N|N|N	0.21282|0.21282|0.21282|0.21282	0.65|0.65|0.65|0.65	0.80722|0.80722|0.80722|0.80722	D|D|D|D	1|1|1|1	.|.|D;D;D;D;D|.	.|.|0.89917|.	.|.|0.967;0.993;1.0;0.963;0.963|.	.|.|P;D;D;P;P|.	.|.|0.79784|.	.|.|0.846;0.993;0.991;0.834;0.834|.	.|T|T|T	.|0.13656|0.13656|0.13656	.|-1.0501|-1.0501|-1.0501	.|5|10|5	.|.|0.72032|.	.|.|D|.	.|.|0.01|.	.|-18.4749|-18.4749|-18.4749	10.5201|10.5201|10.5201|10.5201	0.44914|0.44914|0.44914|0.44914	0.0:0.4764:0.0:0.5236|0.0:0.4764:0.0:0.5236|0.0:0.4764:0.0:0.5236|0.0:0.4764:0.0:0.5236	.|.|.|.	.|.|119;90;167;119;119|.	.|.|E9PD14;B4DVD2;D6R9L0;E9KL35;P63244|.	.|.|.;.;.;.;GBLP_HUMAN|.	.|Y|H|I	-1|37;26|119;75;119;167;105;78;159;119|50	.|.|ENSP00000426101:Q119H;ENSP00000366013:Q75H;ENSP00000426909:Q119H;ENSP00000423569:Q167H;ENSP00000422029:Q105H;ENSP00000421416:Q78H;ENSP00000421356:Q159H;ENSP00000394470:Q119H|.	.|.|ENSP00000366013:Q75H|.	.|D|Q|R	-|-|-|-	.|1|3|2	.|0|2|0	GNB2L1|GNB2L1|GNB2L1|GNB2L1	180601170|180601170|180601170|180601170	0.978000|0.978000|0.978000|0.978000	0.34361|0.34361|0.34361|0.34361	0.980000|0.980000|0.980000|0.980000	0.43619|0.43619|0.43619|0.43619	0.991000|0.991000|0.991000|0.991000	0.79684|0.79684|0.79684|0.79684	0.265000|0.265000|0.265000|0.265000	0.18515|0.18515|0.18515|0.18515	-0.453000|-0.453000|-0.453000|-0.453000	0.07076|0.07076|0.07076|0.07076	0.655000|0.655000|0.655000|0.655000	0.94253|0.94253|0.94253|0.94253	.|GAT|CAG|AGA	GNB2L1	-	-	ENSG00000204628		0.512	GNB2L1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	GNB2L1	HGNC	protein_coding	OTTHUMT00000372943.2	96	0.00	0	C	NM_006098		180668564	180668564	-1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000512968	ensembl	human	novel	69_37n	splice_site	84	24.32	27	SNP	1.000	A
GNL3	26354	genome.wustl.edu	37	3	52728250	52728250	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:52728250G>A	ENST00000418458.1	+	15	1782	c.1609G>A	c.(1609-1611)Gaa>Aaa	p.E537K	SNORD19_ENST00000410413.1_RNA|GNL3_ENST00000394799.2_Missense_Mutation_p.E525K|GLT8D1_ENST00000463827.1_5'Flank|SNORD69_ENST00000391150.1_RNA	NM_014366.4|NM_206826.1	NP_055181.3|NP_996562.1	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)	537	Acidic. {ECO:0000250}.				cell proliferation (GO:0008283)|GTP catabolic process (GO:0006184)|regulation of cell proliferation (GO:0042127)|ribosome biogenesis (GO:0042254)	extracellular space (GO:0005615)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		TAAAATCATTGAAGAGGATGA	0.303																																						dbGAP											0													55.0	62.0	60.0					3																	52728250		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK027514	CCDS2861.1, CCDS43100.1	3p21.1	2005-01-10			ENSG00000163938	ENSG00000163938			29931	protein-coding gene	gene with protein product		608011				11085516, 12464630	Standard	NM_014366		Approved	C77032, E2IG3, MGC800, NS, nucleostemin	uc003dfd.3	Q9BVP2	OTTHUMG00000158752	ENST00000418458.1:c.1609G>A	3.37:g.52728250G>A	ENSP00000395772:p.Glu537Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDC1|Q5PU80|Q96SV6|Q96SV7|Q9UJY0	Missense_Mutation	SNP	pfam_Gnl3_N_dom,pfam_GTP_binding_domain	p.E537K	ENST00000418458.1	37	c.1609	CCDS2861.1	3	.	.	.	.	.	.	.	.	.	.	G	9.364	1.068842	0.20147	.	.	ENSG00000163938	ENST00000418458;ENST00000394799	T;T	0.17370	2.28;2.28	6.06	-0.119	0.13543	.	0.885675	0.09984	N	0.730666	T	0.08088	0.0202	N	0.08118	0	0.09310	N	1	B	0.15473	0.013	B	0.10450	0.005	T	0.42241	-0.9463	10	0.22109	T	0.4	.	8.5315	0.33337	0.1699:0.4342:0.396:0.0	.	537	Q9BVP2	GNL3_HUMAN	K	537;525	ENSP00000395772:E537K;ENSP00000378278:E525K	ENSP00000378278:E525K	E	+	1	0	GNL3	52703290	0.004000	0.15560	0.002000	0.10522	0.029000	0.11900	-0.193000	0.09573	-0.321000	0.08627	-0.955000	0.02649	GAA	GNL3	-	NULL	ENSG00000163938		0.303	GNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNL3	HGNC	protein_coding	OTTHUMT00000352032.1	70	0.00	0	G	NM_014366		52728250	52728250	+1	no_errors	ENST00000418458	ensembl	human	known	69_37n	missense	76	11.63	10	SNP	0.000	A
GOLGA3	2802	genome.wustl.edu	37	12	133393366	133393366	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:133393366C>T	ENST00000450791.2	-	2	349	c.166G>A	c.(166-168)Gaa>Aaa	p.E56K	GOLGA3_ENST00000204726.3_Missense_Mutation_p.E56K|GOLGA3_ENST00000545875.1_Missense_Mutation_p.E56K|GOLGA3_ENST00000456883.2_Missense_Mutation_p.E56K|GOLGA3_ENST00000537452.1_Missense_Mutation_p.E56K			Q08378	GOGA3_HUMAN	golgin A3	56	Pro-rich.				intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		TCCGGGCTTTCCCCTTCCGTG	0.597																																						dbGAP											0													61.0	62.0	61.0					12																	133393366		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.166G>A	12.37:g.133393366C>T	ENSP00000410378:p.Glu56Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	superfamily_Prefoldin	p.E56K	ENST00000450791.2	37	c.166	CCDS9281.1	12	.	.	.	.	.	.	.	.	.	.	C	2.627	-0.287282	0.05605	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	T;T;T;T;T	0.31769	1.92;1.92;1.91;1.48;1.48	5.79	2.94	0.34122	.	0.851887	0.10518	N	0.665274	T	0.18964	0.0455	N	0.14661	0.345	0.39277	D	0.964487	B;B;B	0.11235	0.004;0.002;0.002	B;B;B	0.11329	0.006;0.004;0.004	T	0.05517	-1.0880	10	0.33940	T	0.23	.	9.5987	0.39589	0.0:0.6594:0.2696:0.071	.	56;56;56	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	K	56	ENSP00000204726:E56K;ENSP00000410378:E56K;ENSP00000409303:E56K;ENSP00000442143:E56K;ENSP00000442603:E56K	ENSP00000204726:E56K	E	-	1	0	GOLGA3	131903439	0.001000	0.12720	0.001000	0.08648	0.359000	0.29487	0.657000	0.24963	0.770000	0.33336	0.462000	0.41574	GAA	GOLGA3	-	NULL	ENSG00000090615		0.597	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GOLGA3	HGNC	protein_coding	OTTHUMT00000397569.2	44	0.00	0	C	NM_005895		133393366	133393366	-1	no_errors	ENST00000204726	ensembl	human	known	69_37n	missense	41	29.31	17	SNP	0.359	T
GOLGA5	9950	genome.wustl.edu	37	14	93276687	93276687	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:93276687C>G	ENST00000163416.2	+	5	1337	c.1081C>G	c.(1081-1083)Ctg>Gtg	p.L361V	GOLGA5_ENST00000355976.2_Missense_Mutation_p.L361V	NM_005113.2	NP_005104	Q8TBA6	GOGA5_HUMAN	golgin A5	361					Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		GGATGCCACTCTGAAGAGAGA	0.423			T	RET	papillary thyroid																																	dbGAP		Dom	yes		14	14q	9950	"""golgi autoantigen, golgin subfamily a, 5  (PTC5)"""		E	0													83.0	91.0	89.0					14																	93276687		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF085199	CCDS9905.1	14q32.12	2012-05-04	2010-02-12		ENSG00000066455	ENSG00000066455			4428	protein-coding gene	gene with protein product	"""golgi integral membrane protein 5"""	606918	"""golgi autoantigen, golgin subfamily a, 5"""			2734021, 9443391, 15004235	Standard	NM_005113		Approved	ret-II, golgin-84, rfg5, GOLIM5	uc001yaz.1	Q8TBA6	OTTHUMG00000171217	ENST00000163416.2:c.1081C>G	14.37:g.93276687C>G	ENSP00000163416:p.Leu361Val	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JRU1|O95287|Q03962|Q2TS49|Q9UQQ7	Missense_Mutation	SNP	pfam_Golgin_subfamily_A_member_5,superfamily_Prefoldin	p.L361V	ENST00000163416.2	37	c.1081	CCDS9905.1	14	.	.	.	.	.	.	.	.	.	.	C	13.48	2.250846	0.39797	.	.	ENSG00000066455	ENST00000163416;ENST00000355976;ENST00000439315	T;T	0.38077	1.16;1.16	5.63	3.78	0.43462	.	0.193727	0.25001	N	0.033911	T	0.35128	0.0921	L	0.39633	1.23	0.45995	D	0.998804	P	0.41232	0.743	B	0.44133	0.442	T	0.18493	-1.0335	10	0.49607	T	0.09	-4.1841	13.0319	0.58847	0.0:0.8622:0.0:0.1378	.	361	Q8TBA6	GOGA5_HUMAN	V	361;361;270	ENSP00000163416:L361V;ENSP00000348252:L361V	ENSP00000163416:L361V	L	+	1	2	GOLGA5	92346440	0.598000	0.26882	0.883000	0.34634	0.809000	0.45718	1.159000	0.31749	1.512000	0.48834	0.591000	0.81541	CTG	GOLGA5	-	pfam_Golgin_subfamily_A_member_5	ENSG00000066455		0.423	GOLGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA5	HGNC	protein_coding	OTTHUMT00000412365.1	64	0.00	0	C			93276687	93276687	+1	no_errors	ENST00000163416	ensembl	human	known	69_37n	missense	58	24.68	19	SNP	0.803	G
GOLGA6L2	283685	genome.wustl.edu	37	15	23686764	23686764	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:23686764C>G	ENST00000567107.1	-	8	910	c.858G>C	c.(856-858)aaG>aaC	p.K286N	GOLGA6L2_ENST00000345070.5_Missense_Mutation_p.K13N|GOLGA6L2_ENST00000312015.5_Missense_Mutation_p.K286N			Q8N9W4	GG6L2_HUMAN	golgin A6 family-like 2	286	Glu-rich.									breast(1)|endometrium(7)	8						tccgtatcttcttttcctgct	0.522																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AK093463		15q11.2	2012-10-05	2010-02-12		ENSG00000174450	ENSG00000174450			26695	protein-coding gene	gene with protein product	"""cancer/testis antigen 105"""		"""golgi autoantigen, golgin subfamily a, 6-like 2"""				Standard	XM_002343322		Approved	CT105, FLJ36144	uc021sfy.1	Q8N9W4	OTTHUMG00000176417	ENST00000567107.1:c.858G>C	15.37:g.23686764C>G	ENSP00000454407:p.Lys286Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L301	Missense_Mutation	SNP	prints_Tropomyosin	p.K13N	ENST00000567107.1	37	c.39		15	.	.	.	.	.	.	.	.	.	.	c	0.444	-0.897056	0.02472	.	.	ENSG00000174450	ENST00000345070;ENST00000312015	T;T	0.49720	0.77;2.81	.	.	.	.	.	.	.	.	T	0.27349	0.0671	.	.	.	0.09310	N	1	B	0.25441	0.126	B	0.18871	0.023	T	0.16660	-1.0395	6	0.24483	T	0.36	.	.	.	.	.	286	Q8N9W4	GG6L2_HUMAN	N	13;286	ENSP00000344626:K13N;ENSP00000307928:K286N	ENSP00000307928:K286N	K	-	3	2	GOLGA6L2	21237857	0.030000	0.19436	0.014000	0.15608	0.014000	0.08584	0.794000	0.26958	0.151000	0.19162	0.154000	0.16183	AAG	GOLGA6L2	-	prints_Tropomyosin	ENSG00000174450		0.522	GOLGA6L2-002	PUTATIVE	basic|appris_candidate_longest	protein_coding	GOLGA6L2	HGNC	protein_coding	OTTHUMT00000431937.1	42	0.00	0	C	NM_182561		23686764	23686764	-1	no_errors	ENST00000345070	ensembl	human	known	69_37n	missense	16	23.81	5	SNP	0.015	G
GOLGB1	2804	genome.wustl.edu	37	3	121410644	121410644	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:121410644G>A	ENST00000340645.5	-	14	7677	c.7552C>T	c.(7552-7554)Cat>Tat	p.H2518Y	GOLGB1_ENST00000393667.3_Missense_Mutation_p.H2523Y	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2518					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TCATCCATATGACTTCTCAAG	0.398																																						dbGAP											0													161.0	168.0	166.0					3																	121410644		2203	4300	6503	-	-	-	SO:0001583	missense	0			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.7552C>T	3.37:g.121410644G>A	ENSP00000341848:p.His2518Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo	p.H2518Y	ENST00000340645.5	37	c.7552	CCDS3004.1	3	.	.	.	.	.	.	.	.	.	.	G	12.50	1.956557	0.34565	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.14391	2.51;2.51	5.55	4.68	0.58851	.	0.293010	0.29987	N	0.010690	T	0.18841	0.0452	M	0.63428	1.95	0.35237	D	0.777478	P;P;P	0.49961	0.826;0.826;0.93	B;B;B	0.44224	0.439;0.439;0.444	T	0.29640	-1.0005	10	0.66056	D	0.02	.	12.0118	0.53291	0.0841:0.0:0.9159:0.0	.	2523;2523;2518	E7EP74;B2ZZ91;Q14789	.;.;GOGB1_HUMAN	Y	2518;2523	ENSP00000341848:H2518Y;ENSP00000377275:H2523Y	ENSP00000341848:H2518Y	H	-	1	0	GOLGB1	122893334	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.921000	0.87530	1.339000	0.45563	0.563000	0.77884	CAT	GOLGB1	-	NULL	ENSG00000173230		0.398	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	HGNC	protein_coding	OTTHUMT00000355159.1	125	0.00	0	G	NM_004487		121410644	121410644	-1	no_errors	ENST00000340645	ensembl	human	known	69_37n	missense	142	13.86	23	SNP	1.000	A
GOLGB1	2804	genome.wustl.edu	37	3	121415658	121415658	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:121415658G>C	ENST00000340645.5	-	13	3822	c.3697C>G	c.(3697-3699)Cta>Gta	p.L1233V	GOLGB1_ENST00000393667.3_Missense_Mutation_p.L1238V	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1233					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		AGTTGCCTTAGCTGGTCTCCA	0.443																																						dbGAP											0													196.0	183.0	187.0					3																	121415658		2203	4300	6503	-	-	-	SO:0001583	missense	0			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.3697C>G	3.37:g.121415658G>C	ENSP00000341848:p.Leu1233Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo	p.L1233V	ENST00000340645.5	37	c.3697	CCDS3004.1	3	.	.	.	.	.	.	.	.	.	.	G	7.593	0.671157	0.14776	.	.	ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517	T;T;T	0.34072	2.0;1.96;1.38	6.07	4.3	0.51218	.	0.137834	0.33161	N	0.005215	T	0.44117	0.1278	L	0.29908	0.895	0.23156	N	0.998208	D;P;P;P;D	0.71674	0.998;0.753;0.753;0.753;0.981	D;B;B;B;P	0.83275	0.996;0.25;0.25;0.25;0.845	T	0.27054	-1.0085	10	0.27785	T	0.31	.	10.8978	0.47034	0.1504:0.0:0.8496:0.0	.	1158;1197;1238;1238;1233	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789	.;.;.;.;GOGB1_HUMAN	V	1233;1238;1197	ENSP00000341848:L1233V;ENSP00000377275:L1238V;ENSP00000418231:L1197V	ENSP00000341848:L1233V	L	-	1	2	GOLGB1	122898348	1.000000	0.71417	0.452000	0.26994	0.468000	0.32798	1.945000	0.40273	0.908000	0.36671	0.655000	0.94253	CTA	GOLGB1	-	NULL	ENSG00000173230		0.443	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	HGNC	protein_coding	OTTHUMT00000355159.1	136	0.00	0	G	NM_004487		121415658	121415658	-1	no_errors	ENST00000340645	ensembl	human	known	69_37n	missense	177	14.90	31	SNP	0.458	C
GOLGB1	2804	genome.wustl.edu	37	3	121417653	121417653	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:121417653C>G	ENST00000340645.5	-	13	1827	c.1702G>C	c.(1702-1704)Gaa>Caa	p.E568Q	GOLGB1_ENST00000393667.3_Missense_Mutation_p.E573Q	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	568					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TCTTGAGCTTCTTTCATTTCC	0.378																																						dbGAP											0													75.0	78.0	77.0					3																	121417653		2202	4300	6502	-	-	-	SO:0001583	missense	0			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.1702G>C	3.37:g.121417653C>G	ENSP00000341848:p.Glu568Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo	p.E568Q	ENST00000340645.5	37	c.1702	CCDS3004.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.12|16.12	3.031801|3.031801	0.54790|0.54790	.|.	.|.	ENSG00000173230|ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517;ENST00000426235|ENST00000489400	T;T;T|T	0.34859|0.49720	1.98;1.98;1.34|0.77	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	0.000000|.	0.64402|.	D|.	0.000004|.	T|T	0.63873|0.63873	0.2548|0.2548	M|M	0.72118|0.72118	2.19|2.19	0.45046|0.45046	D|D	0.998068|0.998068	D;D;D;D;D|.	0.89917|.	1.0;0.998;1.0;0.998;1.0|.	D;D;D;D;D|.	0.85130|.	0.997;0.994;0.997;0.994;0.983|.	T|T	0.61802|0.61802	-0.6988|-0.6988	10|7	0.42905|0.44086	T|T	0.14|0.13	.|.	16.784|16.784	0.85569|0.85569	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	493;532;573;573;568|.	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789|.	.;.;.;.;GOGB1_HUMAN|.	Q|N	568;573;532;380|438	ENSP00000341848:E568Q;ENSP00000377275:E573Q;ENSP00000418231:E532Q|ENSP00000417767:K438N	ENSP00000341848:E568Q|ENSP00000417767:K438N	E|K	-|-	1|3	0|2	GOLGB1|GOLGB1	122900343|122900343	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.079000|2.079000	0.41577|0.41577	2.826000|2.826000	0.97356|0.97356	0.655000|0.655000	0.94253|0.94253	GAA|AAG	GOLGB1	-	NULL	ENSG00000173230		0.378	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	HGNC	protein_coding	OTTHUMT00000355159.1	57	0.00	0	C	NM_004487		121417653	121417653	-1	no_errors	ENST00000340645	ensembl	human	known	69_37n	missense	66	18.52	15	SNP	1.000	G
GON4L	54856	genome.wustl.edu	37	1	155747607	155747607	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:155747607C>G	ENST00000368331.1	-	15	1945	c.1897G>C	c.(1897-1899)Gag>Cag	p.E633Q	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000437809.1_Missense_Mutation_p.E633Q|GON4L_ENST00000271883.5_Missense_Mutation_p.E633Q|GON4L_ENST00000361040.5_Missense_Mutation_p.E633Q	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	633					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)					AGTGGTTCCTCAAACCTATTC	0.438																																						dbGAP											0													97.0	87.0	90.0					1																	155747607		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.1897G>C	1.37:g.155747607C>G	ENSP00000357315:p.Glu633Gln	Somatic		WXS	Illumina GAIIx	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.E633Q	ENST00000368331.1	37	c.1897		1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.422185	0.83559	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000539959;ENST00000361040;ENST00000368327	T;T;T;T	0.14640	2.67;2.67;2.67;2.49	5.34	5.34	0.76211	.	0.131843	0.50627	D	0.000120	T	0.26919	0.0659	L	0.55743	1.74	0.45554	D	0.998504	D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;1.0	D;D;D;D;D	0.91635	0.97;0.982;0.999;0.972;0.987	T	0.01146	-1.1437	10	0.59425	D	0.04	.	18.7391	0.91767	0.0:1.0:0.0:0.0	.	413;633;633;633;633	Q6PHZ4;A4PB68;Q3T8J9-2;Q3T8J9;Q3T8J9-3	.;.;.;GON4L_HUMAN;.	Q	633;633;633;633;633;112	ENSP00000396117:E633Q;ENSP00000357315:E633Q;ENSP00000271883:E633Q;ENSP00000354322:E633Q	ENSP00000271883:E633Q	E	-	1	0	GON4L	154014231	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	6.256000	0.72473	2.524000	0.85096	0.586000	0.80456	GAG	GON4L	-	NULL	ENSG00000116580		0.438	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding		126	0.00	0	C	NM_032292		155747607	155747607	-1	no_errors	ENST00000368331	ensembl	human	known	69_37n	missense	126	21.25	34	SNP	1.000	G
GP2	2813	genome.wustl.edu	37	16	20335310	20335310	+	Silent	SNP	C	C	A	rs200965660		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:20335310C>A	ENST00000381362.4	-	3	439	c.363G>T	c.(361-363)ctG>ctT	p.L121L	GP2_ENST00000573897.1_5'Flank|GP2_ENST00000381360.5_Intron|GP2_ENST00000341642.5_Intron|GP2_ENST00000302555.5_Silent_p.L121L	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	121					antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GGGTCCCATTCAGCCACATGG	0.582																																						dbGAP											0													94.0	74.0	81.0					16																	20335310		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.363G>T	16.37:g.20335310C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFM9|A6NJA8|Q13338|Q9UIF1	Silent	SNP	pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr	p.L121	ENST00000381362.4	37	c.363	CCDS42128.1	16																																																																																			GP2	-	NULL	ENSG00000169347		0.582	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GP2	HGNC	protein_coding	OTTHUMT00000436920.1	33	0.00	0	C	NM_016295		20335310	20335310	-1	no_errors	ENST00000381362	ensembl	human	known	69_37n	silent	26	23.53	8	SNP	0.966	A
GP5	2814	genome.wustl.edu	37	3	194117360	194117360	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:194117360C>T	ENST00000401815.1	-	1	1723	c.1652G>A	c.(1651-1653)cGa>cAa	p.R551Q	GP5_ENST00000323007.3_Missense_Mutation_p.R551Q			P40197	GPV_HUMAN	glycoprotein V (platelet)	551					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|negative regulation of platelet activation (GO:0010544)|platelet activation (GO:0030168)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		GATTAATTTTCGAAAGAGTTG	0.443																																						dbGAP											0													104.0	122.0	116.0					3																	194117360		2199	4296	6495	-	-	-	SO:0001583	missense	0			L11238	CCDS3307.1	3q29	2008-02-01			ENSG00000178732	ENSG00000178732		"""CD molecules"""	4443	protein-coding gene	gene with protein product		173511				7690959	Standard	NM_004488		Approved	CD42d	uc003ftv.1	P40197	OTTHUMG00000150345	ENST00000401815.1:c.1652G>A	3.37:g.194117360C>T	ENSP00000383931:p.Arg551Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	D1MER9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.R551Q	ENST00000401815.1	37	c.1652	CCDS3307.1	3	.	.	.	.	.	.	.	.	.	.	C	16.71	3.199039	0.58126	.	.	ENSG00000178732	ENST00000401815;ENST00000323007	T;T	0.52295	0.67;0.67	4.3	2.05	0.26809	.	0.312775	0.18568	N	0.137438	T	0.24736	0.0600	L	0.34521	1.04	0.28507	N	0.913713	P	0.43352	0.804	B	0.24974	0.057	T	0.30736	-0.9968	10	0.87932	D	0	.	4.3021	0.10930	0.0:0.6243:0.2256:0.15	.	551	P40197	GPV_HUMAN	Q	551	ENSP00000383931:R551Q;ENSP00000319286:R551Q	ENSP00000319286:R551Q	R	-	2	0	GP5	195598649	0.970000	0.33590	0.674000	0.29902	0.909000	0.53808	0.156000	0.16382	0.950000	0.37743	0.542000	0.68232	CGA	GP5	-	NULL	ENSG00000178732		0.443	GP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GP5	HGNC	protein_coding	OTTHUMT00000317710.1	14	0.00	0	C	NM_004488		194117360	194117360	-1	no_errors	ENST00000323007	ensembl	human	known	69_37n	missense	24	17.24	5	SNP	1.000	T
GPATCH1	55094	genome.wustl.edu	37	19	33579138	33579139	+	Missense_Mutation	DNP	TC	TC	AT			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	T|C	T|C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:33579138_33579139TC>AT	ENST00000170564.2	+	2	486_487	c.172_173TC>AT	c.(172-174)TCt>ATt	p.S58I		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	58					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					TGGAGGTTTCTCTGCTGGATAC	0.386																																					Pancreas(67;88 1713 4567 18227)	dbGAP											0																																										-	-	-	SO:0001583	missense	0			AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"""G patch domain containing"""	24658	protein-coding gene	gene with protein product	"""evolutionarily conserved G patch domain containing"""			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		Exception_encountered	19.37:g.33579138_33579139delinsAT	ENSP00000170564:p.Ser58Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IZV6|Q8N3B7|Q9NW94	Missense_Mutation	SNP	pfam_DUF1604,pfam_G_patch_dom,superfamily_C-type_lectin_fold,pfscan_G_patch_dom	p.S58T|p.S58F	ENST00000170564.2	37	c.172|c.173	CCDS12428.1	19																																																																																			GPATCH1	-	pfam_DUF1604	ENSG00000076650		0.386	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH1	HGNC	protein_coding	OTTHUMT00000450834.1	101|100	0.00	0	T|C	NM_018025		33579138|33579139	33579138|33579139	+1	no_errors	ENST00000170564	ensembl	human	known	69_37n	missense	65|64	19.75|20.00	16	SNP	1.000	A|T
GP6	51206	genome.wustl.edu	37	19	55543613	55543613	+	Silent	SNP	G	G	C	rs28385644		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:55543613G>C	ENST00000417454.1	-	3	246	c.219C>G	c.(217-219)ctC>ctG	p.L73L	CTC-550B14.6_ENST00000585492.1_RNA|CTC-550B14.7_ENST00000586845.1_RNA|GP6_ENST00000333884.2_Silent_p.L73L|GP6_ENST00000310373.3_Silent_p.L73L|CTC-550B14.7_ENST00000586961.1_RNA|CTC-550B14.7_ENST00000593060.1_RNA	NM_016363.4	NP_057447	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)	73	Ig-like C2-type 1.				blood coagulation (GO:0007596)|enzyme linked receptor protein signaling pathway (GO:0007167)|leukocyte migration (GO:0050900)|platelet activation (GO:0030168)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	collagen binding (GO:0005518)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		CCGGGATGAAGAGGACTGCCT	0.632																																						dbGAP											0													69.0	74.0	73.0					19																	55543613		1996	4165	6161	-	-	-	SO:0001819	synonymous_variant	0			AB035073	CCDS42626.1, CCDS46184.1, CCDS58678.1	19q13.4	2013-01-29			ENSG00000088053	ENSG00000088053		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14388	protein-coding gene	gene with protein product		605546				11027634	Standard	NM_001083899		Approved	GPVI	uc002qil.3	Q9HCN6	OTTHUMG00000159709	ENST00000417454.1:c.219C>G	19.37:g.55543613G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9HCN7|Q9UIF2	Silent	SNP	smart_Ig_sub,smart_Ig_sub2	p.L73	ENST00000417454.1	37	c.219	CCDS46184.1	19																																																																																			GP6	-	smart_Ig_sub,smart_Ig_sub2	ENSG00000088053		0.632	GP6-001	KNOWN	basic|CCDS	protein_coding	GP6	HGNC	protein_coding	OTTHUMT00000357006.1	25	0.00	0	G			55543613	55543613	-1	no_errors	ENST00000310373	ensembl	human	known	69_37n	silent	15	51.61	16	SNP	0.000	C
GPATCH3	63906	genome.wustl.edu	37	1	27220757	27220757	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:27220757C>T	ENST00000361720.5	-	3	1044	c.1021G>A	c.(1021-1023)Gat>Aat	p.D341N		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	341							nucleic acid binding (GO:0003676)			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		AACTGGGCATCAGTATAAAAC	0.572																																						dbGAP											0													151.0	138.0	142.0					1																	27220757		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC007767	CCDS290.1	1p35.3-p35.1	2013-01-28		2006-12-13	ENSG00000198746	ENSG00000198746		"""G patch domain containing"""	25720	protein-coding gene	gene with protein product				GPATC3			Standard	NM_022078		Approved	FLJ12455	uc001bne.3	Q96I76	OTTHUMG00000004229	ENST00000361720.5:c.1021G>A	1.37:g.27220757C>T	ENSP00000354645:p.Asp341Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JYH2|Q8NDJ2|Q9H9Z3	Missense_Mutation	SNP	pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom	p.D341N	ENST00000361720.5	37	c.1021	CCDS290.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.228089	0.95173	.	.	ENSG00000198746	ENST00000361720;ENST00000536641;ENST00000374122	T	0.48522	0.81	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.73202	0.3557	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77928	-0.2404	10	0.72032	D	0.01	-20.9394	18.5062	0.90898	0.0:1.0:0.0:0.0	.	341	Q96I76	GPTC3_HUMAN	N	341;323;152	ENSP00000354645:D341N	ENSP00000354645:D341N	D	-	1	0	GPATCH3	27093344	1.000000	0.71417	0.889000	0.34880	0.914000	0.54420	7.131000	0.77243	2.596000	0.87737	0.563000	0.77884	GAT	GPATCH3	-	NULL	ENSG00000198746		0.572	GPATCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH3	HGNC	protein_coding	OTTHUMT00000012181.1	97	0.00	0	C	NM_022078		27220757	27220757	-1	no_errors	ENST00000361720	ensembl	human	known	69_37n	missense	84	20.00	21	SNP	1.000	T
GPATCH3	63906	genome.wustl.edu	37	1	27220864	27220864	+	Missense_Mutation	SNP	G	G	A	rs200646741		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:27220864G>A	ENST00000361720.5	-	3	937	c.914C>T	c.(913-915)gCg>gTg	p.A305V		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	305	Glu-rich.						nucleic acid binding (GO:0003676)			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		CTCATGCAGCGCTTCATGCCG	0.597																																						dbGAP											0													178.0	149.0	159.0					1																	27220864		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC007767	CCDS290.1	1p35.3-p35.1	2013-01-28		2006-12-13	ENSG00000198746	ENSG00000198746		"""G patch domain containing"""	25720	protein-coding gene	gene with protein product				GPATC3			Standard	NM_022078		Approved	FLJ12455	uc001bne.3	Q96I76	OTTHUMG00000004229	ENST00000361720.5:c.914C>T	1.37:g.27220864G>A	ENSP00000354645:p.Ala305Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JYH2|Q8NDJ2|Q9H9Z3	Missense_Mutation	SNP	pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom	p.A305V	ENST00000361720.5	37	c.914	CCDS290.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.163400	0.94727	.	.	ENSG00000198746	ENST00000361720;ENST00000536641;ENST00000374122	T	0.49432	0.78	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.71108	0.3301	M	0.83012	2.62	0.80722	D	1	D	0.89917	1.0	D	0.70016	0.967	T	0.77305	-0.2637	10	0.87932	D	0	-12.3296	17.5641	0.87914	0.0:0.0:1.0:0.0	.	305	Q96I76	GPTC3_HUMAN	V	305;287;116	ENSP00000354645:A305V	ENSP00000354645:A305V	A	-	2	0	GPATCH3	27093451	1.000000	0.71417	0.862000	0.33874	0.974000	0.67602	7.206000	0.77891	2.363000	0.80096	0.563000	0.77884	GCG	GPATCH3	-	NULL	ENSG00000198746		0.597	GPATCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH3	HGNC	protein_coding	OTTHUMT00000012181.1	73	0.00	0	G	NM_022078		27220864	27220864	-1	no_errors	ENST00000361720	ensembl	human	known	69_37n	missense	79	21.78	22	SNP	1.000	A
GPBP1	65056	genome.wustl.edu	37	5	56542228	56542228	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:56542228C>G	ENST00000506184.2	+	7	1685	c.580C>G	c.(580-582)Ctt>Gtt	p.L194V	GPBP1_ENST00000511209.1_Missense_Mutation_p.L201V|GPBP1_ENST00000424459.3_Missense_Mutation_p.L214V|GPBP1_ENST00000514387.2_Missense_Mutation_p.L23V|GPBP1_ENST00000454432.2_Missense_Mutation_p.L214V|GPBP1_ENST00000264779.6_Missense_Mutation_p.L201V|GPBP1_ENST00000538707.1_Missense_Mutation_p.L201V			Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1	194					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		AGTAGGAAATCTTCCGTCACA	0.403																																						dbGAP											0													75.0	80.0	78.0					5																	56542228		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34162.1, CCDS47211.1, CCDS47212.1, CCDS47212.2, CCDS56368.1	5q11.2	2008-02-05				ENSG00000062194			29520	protein-coding gene	gene with protein product		608412				12842993	Standard	NM_022913		Approved	DKFZp761C169, vasculin	uc003jrk.4	Q86WP2		ENST00000506184.2:c.580C>G	5.37:g.56542228C>G	ENSP00000421202:p.Leu194Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKW3|Q6NSH6|Q9H0D4|Q9H785|Q9NSN4	Missense_Mutation	SNP	NULL	p.L214V	ENST00000506184.2	37	c.640	CCDS34162.1	5	.	.	.	.	.	.	.	.	.	.	C	12.00	1.807777	0.31961	.	.	ENSG00000062194	ENST00000424459;ENST00000514387;ENST00000506184;ENST00000454432;ENST00000511209;ENST00000264779;ENST00000538707	T;T;T;T;T;T;T	0.48522	1.84;0.81;1.85;1.84;1.85;1.86;1.86	5.44	5.44	0.79542	.	0.288332	0.34362	N	0.004038	T	0.42426	0.1202	L	0.56769	1.78	0.39359	D	0.965884	B;B;B;B	0.13594	0.008;0.001;0.0;0.001	B;B;B;B	0.15052	0.012;0.002;0.001;0.002	T	0.33752	-0.9856	10	0.10636	T	0.68	-5.0172	13.982	0.64310	0.0:0.8489:0.1511:0.0	.	214;201;201;194	D4PHA4;Q86WP2-2;Q86WP2-3;Q86WP2	.;.;.;GPBP1_HUMAN	V	214;23;194;214;201;201;201	ENSP00000401596:L214V;ENSP00000421709:L23V;ENSP00000421202:L194V;ENSP00000403522:L214V;ENSP00000422337:L201V;ENSP00000264779:L201V;ENSP00000440090:L201V	ENSP00000264779:L201V	L	+	1	0	GPBP1	56577985	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.191000	0.42640	2.551000	0.86045	0.655000	0.94253	CTT	GPBP1	-	NULL	ENSG00000062194		0.403	GPBP1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	GPBP1	HGNC	protein_coding	OTTHUMT00000374496.1	84	0.00	0	C	NM_022913		56542228	56542228	+1	no_errors	ENST00000424459	ensembl	human	known	69_37n	missense	43	30.65	19	SNP	1.000	G
GPER1	2852	genome.wustl.edu	37	7	1132068	1132068	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:1132068C>T	ENST00000297469.3	+	2	1395	c.704C>T	c.(703-705)tCc>tTc	p.S235F	GPER1_ENST00000397088.3_Missense_Mutation_p.S235F|GPER1_ENST00000397092.1_Missense_Mutation_p.S235F|C7orf50_ENST00000397100.2_Intron|C7orf50_ENST00000357429.6_Intron|GPER1_ENST00000401670.1_Missense_Mutation_p.S235F|C7orf50_ENST00000397098.3_Intron|C7orf50_ENST00000488073.1_Intron	NM_001505.2	NP_001496.1	Q99527	GPER1_HUMAN	G protein-coupled estrogen receptor 1	235					apoptotic chromosome condensation (GO:0030263)|cell cycle (GO:0007049)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucose stimulus (GO:0071333)|cellular response to mineralocorticoid stimulus (GO:0071389)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytosolic calcium ion homeostasis (GO:0051480)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA metabolic process (GO:0051053)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of leukocyte activation (GO:0002695)|negative regulation of lipid biosynthetic process (GO:0051055)|neuronal action potential (GO:0019228)|nuclear fragmentation involved in apoptotic nuclear change (GO:0030264)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of gene expression (GO:0010628)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of insulin secretion (GO:0032024)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neurotransmitter secretion (GO:0001956)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vasodilation (GO:0045909)|steroid hormone mediated signaling pathway (GO:0043401)	axon (GO:0030424)|axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|dendritic spine head (GO:0044327)|dendritic spine membrane (GO:0032591)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|keratin filament (GO:0045095)|mitochondrial membrane (GO:0031966)|neuronal postsynaptic density (GO:0097481)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	chromatin binding (GO:0003682)|estrogen receptor activity (GO:0030284)|G-protein coupled receptor activity (GO:0004930)|mineralocorticoid receptor activity (GO:0017082)|steroid binding (GO:0005496)										CTGTGCTACTCCCTCATTGTC	0.677																																						dbGAP											0													58.0	49.0	52.0					7																	1132068		2202	4300	6502	-	-	-	SO:0001583	missense	0			U63917	CCDS5322.1	7p22	2013-08-14	2007-07-03	2013-08-14	ENSG00000164850	ENSG00000164850			4485	protein-coding gene	gene with protein product		601805	"""G protein-coupled receptor 30"""	CMKRL2, GPR30, GPER		9479505, 17655271	Standard	NM_001098201		Approved	FEG-1, GPCR-Br, LERGU, LERGU2, DRY12, LyGPR, CEPR	uc003skb.2	Q99527	OTTHUMG00000023680	ENST00000297469.3:c.704C>T	7.37:g.1132068C>T	ENSP00000297469:p.Ser235Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6C5|B5BUJ1|O00143|O43494|Q13631|Q6FHL1|Q96F42|Q99981	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.S235F	ENST00000297469.3	37	c.704	CCDS5322.1	7	.	.	.	.	.	.	.	.	.	.	C	19.56	3.850595	0.71719	.	.	ENSG00000164850	ENST00000401670;ENST00000397092;ENST00000297469;ENST00000397088;ENST00000508834	T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59	5.41	5.41	0.78517	GPCR, rhodopsin-like superfamily (1);	0.064931	0.64402	D	0.000005	T	0.80059	0.4554	L	0.42632	1.34	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.81516	-0.0897	10	0.72032	D	0.01	-31.3673	18.2014	0.89839	0.0:1.0:0.0:0.0	.	235	Q99527	GPER_HUMAN	F	235	ENSP00000385151:S235F;ENSP00000380281:S235F;ENSP00000297469:S235F;ENSP00000380277:S235F	ENSP00000297469:S235F	S	+	2	0	GPER	1098594	1.000000	0.71417	1.000000	0.80357	0.317000	0.28152	5.566000	0.67372	2.543000	0.85770	0.643000	0.83706	TCC	GPER	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000164850		0.677	GPER1-030	KNOWN	basic|appris_principal|CCDS	protein_coding	GPER	HGNC	protein_coding	OTTHUMT00000060001.1	24	0.00	0	C	NM_001039966		1132068	1132068	+1	no_errors	ENST00000297469	ensembl	human	known	69_37n	missense	24	22.58	7	SNP	1.000	T
GPLD1	2822	genome.wustl.edu	37	6	24460566	24460566	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:24460566C>G	ENST00000230036.1	-	12	1059	c.949G>C	c.(949-951)Gac>Cac	p.D317H		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	317					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to calcium ion (GO:0071277)|cellular response to cholesterol (GO:0071397)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|cellular response to pH (GO:0071467)|cellular response to triglyceride (GO:0071401)|chondrocyte differentiation (GO:0002062)|complement receptor mediated signaling pathway (GO:0002430)|GPI anchor release (GO:0006507)|hematopoietic stem cell migration (GO:0035701)|hematopoietic stem cell migration to bone marrow (GO:0097241)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cell proliferation (GO:0008285)|negative regulation of triglyceride catabolic process (GO:0010897)|ossification (GO:0001503)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of secretion (GO:0051047)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cellular response to insulin stimulus (GO:1900076)|response to glucose (GO:0009749)|transepithelial transport (GO:0070633)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|proteinaceous extracellular matrix (GO:0005578)	glycosylphosphatidylinositol phospholipase D activity (GO:0004621)|phospholipase D activity (GO:0004630)|sodium channel regulator activity (GO:0017080)			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						ATATTCCTGTCAACACTTTCA	0.373																																						dbGAP											0													137.0	141.0	139.0					6																	24460566		2203	4300	6503	-	-	-	SO:0001583	missense	0			L11701	CCDS4553.1	6p22.1	2008-02-05			ENSG00000112293	ENSG00000112293			4459	protein-coding gene	gene with protein product		602515				11072085	Standard	NM_001503		Approved		uc003ned.2	P80108	OTTHUMG00000016104	ENST00000230036.1:c.949G>C	6.37:g.24460566C>G	ENSP00000230036:p.Asp317His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Missense_Mutation	SNP	pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Gprt_PLipase_D	p.D317H	ENST00000230036.1	37	c.949	CCDS4553.1	6	.	.	.	.	.	.	.	.	.	.	C	13.54	2.267555	0.40095	.	.	ENSG00000112293	ENST00000230036	T	0.68624	-0.34	5.78	1.27	0.21489	.	0.902309	0.09420	N	0.804534	T	0.39118	0.1066	L	0.43152	1.355	0.09310	N	1	P	0.39903	0.694	B	0.37198	0.243	T	0.18053	-1.0349	10	0.49607	T	0.09	-0.2383	10.4802	0.44689	0.0:0.649:0.0:0.351	.	317	P80108	PHLD_HUMAN	H	317	ENSP00000230036:D317H	ENSP00000230036:D317H	D	-	1	0	GPLD1	24568545	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.784000	0.26816	0.305000	0.22832	0.609000	0.83330	GAC	GPLD1	-	NULL	ENSG00000112293		0.373	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPLD1	HGNC	protein_coding	OTTHUMT00000043315.1	168	0.00	0	C	NM_001503		24460566	24460566	-1	no_errors	ENST00000230036	ensembl	human	known	69_37n	missense	139	19.19	33	SNP	0.000	G
GPR107	57720	genome.wustl.edu	37	9	132891015	132891015	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:132891015G>C	ENST00000372406.1	+	19	2188	c.1681G>C	c.(1681-1683)Gaa>Caa	p.E561Q	GPR107_ENST00000347136.6_Missense_Mutation_p.E513Q|GPR107_ENST00000372410.3_Missense_Mutation_p.E532Q	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107	561						integral component of membrane (GO:0016021)				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				TTCTCAGGAAGAAGAAGACTT	0.483																																						dbGAP											0													141.0	144.0	143.0					9																	132891015		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF376725	CCDS35162.1, CCDS48041.1, CCDS48042.1	9q34.2	2014-01-30			ENSG00000148358	ENSG00000148358		"""GPCR / Unclassified : 7TM orphan receptors"""	17830	protein-coding gene	gene with protein product							Standard	NM_020960		Approved	KIAA1624, RP11-88G17, FLJ20998, LUSTR1	uc004bzd.2	Q5VW38	OTTHUMG00000020804	ENST00000372406.1:c.1681G>C	9.37:g.132891015G>C	ENSP00000361483:p.Glu561Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJ53|Q2TB81|Q5JPA3|Q5VW39|Q96T26|Q9H658|Q9HCE8	Missense_Mutation	SNP	pfam_TM_rcpt_euk,pfam_Rhodopsin-like_GPCR_TM_domain	p.E561Q	ENST00000372406.1	37	c.1681	CCDS48041.1	9	.	.	.	.	.	.	.	.	.	.	G	28.7	4.946067	0.92593	.	.	ENSG00000148358	ENST00000372406;ENST00000347136;ENST00000372410	T;T;T	0.27890	1.75;1.67;1.64	5.62	5.62	0.85841	.	0.510014	0.20985	N	0.082149	T	0.33323	0.0859	L	0.48642	1.525	0.53005	D	0.999963	P;P;P	0.48640	0.634;0.913;0.493	B;B;B	0.41894	0.369;0.354;0.215	T	0.12863	-1.0531	10	0.62326	D	0.03	-5.8392	18.2377	0.89956	0.0:0.0:1.0:0.0	.	532;561;513	G5E994;Q5VW38;Q5VW38-2	.;GP107_HUMAN;.	Q	561;513;532	ENSP00000361483:E561Q;ENSP00000336988:E513Q;ENSP00000361487:E532Q	ENSP00000336988:E513Q	E	+	1	0	GPR107	131930836	1.000000	0.71417	0.986000	0.45419	0.966000	0.64601	9.152000	0.94680	2.648000	0.89879	0.561000	0.74099	GAA	GPR107	-	NULL	ENSG00000148358		0.483	GPR107-003	NOVEL	basic|CCDS	protein_coding	GPR107	HGNC	protein_coding	OTTHUMT00000054643.2	134	0.00	0	G			132891015	132891015	+1	no_errors	ENST00000372406	ensembl	human	known	69_37n	missense	142	13.41	22	SNP	1.000	C
GPR111	222611	genome.wustl.edu	37	6	47649126	47649126	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:47649126C>G	ENST00000296862.1	+	6	831	c.831C>G	c.(829-831)ttC>ttG	p.F277L	GPR111_ENST00000507065.1_Missense_Mutation_p.F209L|GPR111_ENST00000398742.2_Missense_Mutation_p.F209L			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	277					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(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GAAGGCTATTCATAGATAAAC	0.373																																						dbGAP											0													112.0	106.0	108.0					6																	47649126		1916	4134	6050	-	-	-	SO:0001583	missense	0			AB065684		6p12.3	2014-08-08			ENSG00000164393	ENSG00000164393		"""-"", ""GPCR / Class B : Orphans"""	18991	protein-coding gene	gene with protein product						12435584	Standard	NM_153839		Approved	hGPCR35, PGR20	uc003oyy.3	Q8IZF7	OTTHUMG00000046168	ENST00000296862.1:c.831C>G	6.37:g.47649126C>G	ENSP00000296862:p.Phe277Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2PNZ1|Q86SL6|Q8NGU5|Q8TDT5	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like	p.F277L	ENST00000296862.1	37	c.831		6	.	.	.	.	.	.	.	.	.	.	C	0.301	-0.973760	0.02215	.	.	ENSG00000164393	ENST00000507065;ENST00000296862;ENST00000398742	T;T;T	0.34472	2.13;2.1;1.36	5.43	-10.9	0.00192	.	0.905950	0.09477	N	0.796915	T	0.05777	0.0151	L	0.45137	1.4	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.20472	-1.0274	10	0.11182	T	0.66	.	4.5724	0.12216	0.0792:0.3682:0.3052:0.2474	.	209;277	Q8IZF7-2;Q8IZF7	.;GP111_HUMAN	L	209;277;209	ENSP00000422934:F209L;ENSP00000296862:F277L;ENSP00000381727:F209L	ENSP00000296862:F277L	F	+	3	2	GPR111	47757085	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.327000	0.02682	-1.915000	0.01077	0.644000	0.83932	TTC	GPR111	-	NULL	ENSG00000164393		0.373	GPR111-001	KNOWN	basic	protein_coding	GPR111	HGNC	protein_coding	OTTHUMT00000106423.2	95	0.00	0	C	NM_153839		47649126	47649126	+1	no_errors	ENST00000296862	ensembl	human	known	69_37n	missense	56	25.33	19	SNP	0.000	G
GPR112	139378	genome.wustl.edu	37	X	135429316	135429316	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:135429316G>A	ENST00000394143.1	+	6	3742	c.3451G>A	c.(3451-3453)Gac>Aac	p.D1151N	GPR112_ENST00000287534.4_Missense_Mutation_p.D1088N|GPR112_ENST00000394141.1_Missense_Mutation_p.D946N|GPR112_ENST00000370652.1_Missense_Mutation_p.D1151N|GPR112_ENST00000412101.1_Missense_Mutation_p.D946N	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1151					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(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACCTCCCCCTGACAACATTCC	0.483																																						dbGAP											0													176.0	134.0	148.0					X																	135429316		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.3451G>A	X.37:g.135429316G>A	ENSP00000377699:p.Asp1151Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.D1151N	ENST00000394143.1	37	c.3451	CCDS35409.1	X	.	.	.	.	.	.	.	.	.	.	G	3.660	-0.069768	0.07228	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.31510	1.53;1.53;1.49;1.63;1.49	2.2	-3.51	0.04696	.	.	.	.	.	T	0.10594	0.0259	N	0.12746	0.255	0.09310	N	1	P;B;B	0.35507	0.506;0.041;0.024	B;B;B	0.25291	0.059;0.008;0.003	T	0.29941	-0.9995	9	0.07482	T	0.82	.	8.2052	0.31452	0.7353:0.0:0.2647:0.0	.	1088;946;1151	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	N	1151;1151;946;1088;946	ENSP00000377699:D1151N;ENSP00000359686:D1151N;ENSP00000416526:D946N;ENSP00000287534:D1088N;ENSP00000377697:D946N	ENSP00000287534:D1088N	D	+	1	0	GPR112	135256982	0.000000	0.05858	0.000000	0.03702	0.133000	0.20885	-0.103000	0.10940	-1.378000	0.02120	-0.422000	0.05995	GAC	GPR112	-	NULL	ENSG00000156920		0.483	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	HGNC	protein_coding	OTTHUMT00000286639.1	61	0.00	0	G			135429316	135429316	+1	no_errors	ENST00000370652	ensembl	human	known	69_37n	missense	72	21.74	20	SNP	0.000	A
GPR113	165082	genome.wustl.edu	37	2	26541774	26541774	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:26541774C>T	ENST00000311519.1	-	1	143	c.144G>A	c.(142-144)ctG>ctA	p.L48L	GPR113_ENST00000333478.6_Intron|GPR113_ENST00000541401.1_Intron|GPR113_ENST00000421160.2_Intron|GPR113_ENST00000459892.1_Intron	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	48					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)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCTCCCAATCAGGGGTCCCC	0.532																																						dbGAP											0													136.0	119.0	124.0					2																	26541774		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567		"""-"", ""GPCR / Class B : Orphans"""	18989	protein-coding gene	gene with protein product						12435584	Standard	NM_153835		Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225	ENST00000311519.1:c.144G>A	2.37:g.26541774C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.L48	ENST00000311519.1	37	c.144	CCDS46239.1	2																																																																																			GPR113	-	NULL	ENSG00000173567		0.532	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	GPR113	HGNC	protein_coding	OTTHUMT00000316892.1	150	0.00	0	C	NM_153835		26541774	26541774	-1	no_errors	ENST00000311519	ensembl	human	putative	69_37n	silent	134	27.57	51	SNP	0.000	T
GPR116	221395	genome.wustl.edu	37	6	46836645	46836645	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:46836645G>A	ENST00000283296.7	-	12	1884	c.1596C>T	c.(1594-1596)gtC>gtT	p.V532V	GPR116_ENST00000456426.2_Silent_p.V390V|GPR116_ENST00000545669.1_5'UTR|GPR116_ENST00000362015.4_Silent_p.V532V|GPR116_ENST00000265417.7_Silent_p.V532V	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	532	Ig-like 3.				energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TCGAGGTCTTGACTGTCAGTA	0.438																																					NSCLC(59;410 1274 8751 36715 50546)	dbGAP											0													139.0	138.0	138.0					6																	46836645		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.1596C>T	6.37:g.46836645G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_SEA,pfam_GPS_dom,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,pfscan_Ig-like,prints_GPCR_2_Ig-hepta_rcpt,prints_GPCR_2_secretin-like	p.V532	ENST00000283296.7	37	c.1596	CCDS4919.1	6																																																																																			GPR116	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000069122		0.438	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR116	HGNC	protein_coding	OTTHUMT00000040806.2	107	0.00	0	G	NM_015234		46836645	46836645	-1	no_errors	ENST00000265417	ensembl	human	known	69_37n	silent	86	23.21	26	SNP	0.049	A
GPR125	166647	genome.wustl.edu	37	4	22414830	22414830	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:22414830G>C	ENST00000334304.5	-	14	2476	c.2207C>G	c.(2206-2208)tCc>tGc	p.S736C	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	736	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				GTTACTAAGGGAGTAGCACTG	0.383																																						dbGAP											0													195.0	194.0	194.0					4																	22414830		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.2207C>G	4.37:g.22414830G>C	ENSP00000334952:p.Ser736Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_GPCR_2_extracellular_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like	p.S736C	ENST00000334304.5	37	c.2207	CCDS33964.1	4	.	.	.	.	.	.	.	.	.	.	G	17.78	3.472966	0.63737	.	.	ENSG00000152990	ENST00000334304	T	0.69040	-0.37	5.49	5.49	0.81192	GPS domain (3);	0.107659	0.64402	D	0.000003	T	0.75997	0.3926	L	0.51422	1.61	0.80722	D	1	P;D	0.59767	0.879;0.986	P;P	0.58013	0.669;0.831	T	0.77859	-0.2431	10	0.72032	D	0.01	-22.9247	19.367	0.94468	0.0:0.0:1.0:0.0	.	593;736	Q8IWK6-3;Q8IWK6	.;GP125_HUMAN	C	736	ENSP00000334952:S736C	ENSP00000334952:S736C	S	-	2	0	GPR125	22023928	1.000000	0.71417	1.000000	0.80357	0.517000	0.34286	6.024000	0.70857	2.555000	0.86185	0.650000	0.86243	TCC	GPR125	-	pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom	ENSG00000152990		0.383	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR125	HGNC	protein_coding	OTTHUMT00000362960.3	91	0.00	0	G			22414830	22414830	-1	no_errors	ENST00000334304	ensembl	human	known	69_37n	missense	72	17.24	15	SNP	1.000	C
GPR126	57211	genome.wustl.edu	37	6	142715042	142715042	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:142715042G>C	ENST00000230173.6	+	9	1847	c.1371G>C	c.(1369-1371)ctG>ctC	p.L457L	GPR126_ENST00000296932.8_Silent_p.L429L|GPR126_ENST00000367608.2_Silent_p.L429L|GPR126_ENST00000367609.3_Silent_p.L457L	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	457					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)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		GTTTTCACCTGAGTGCTGGAG	0.358																																						dbGAP											0													113.0	101.0	104.0					6																	142715042		1842	4088	5930	-	-	-	SO:0001819	synonymous_variant	0			AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"""-"", ""GPCR / Class B : Orphans"""	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.1371G>C	6.37:g.142715042G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Nonstop_Mutation	SNP	NULL	p.*32S	ENST00000230173.6	37	c.95	CCDS47490.1	6	.	.	.	.	.	.	.	.	.	.	G	4.982	0.182399	0.09495	.	.	ENSG00000112414	ENST00000508295	.	.	.	5.14	4.01	0.46588	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.8554	0.24038	0.2613:0.0:0.7387:0.0	.	.	.	.	S	32	.	.	X	+	2	2	GPR126	142756735	0.007000	0.16637	0.098000	0.21074	0.274000	0.26718	0.668000	0.25127	0.946000	0.37632	0.591000	0.81541	TGA	GPR126	-	NULL	ENSG00000112414		0.358	GPR126-001	KNOWN	basic|CCDS	protein_coding	GPR126	HGNC	protein_coding	OTTHUMT00000042487.2	207	0.00	0	G			142715042	142715042	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000508295	ensembl	human	putative	69_37n	nonstop	126	20.25	32	SNP	0.005	C
GPR128	84873	genome.wustl.edu	37	3	100413810	100413810	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:100413810C>T	ENST00000273352.3	+	16	2627	c.2359C>T	c.(2359-2361)Ctc>Ttc	p.L787F	GPR128_ENST00000481506.1_3'UTR|GPR128_ENST00000475887.1_Missense_Mutation_p.L492F	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	787					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)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						GGAAATCACACTCTCTGAAAG	0.413																																					Pancreas(87;185 1975 7223 18722)	dbGAP											0													121.0	116.0	118.0					3																	100413810		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"""-"", ""GPCR / Class B : Orphans"""	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.2359C>T	3.37:g.100413810C>T	ENSP00000273352:p.Leu787Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14D94|Q86SQ2	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like	p.L787F	ENST00000273352.3	37	c.2359	CCDS2938.1	3	.	.	.	.	.	.	.	.	.	.	C	15.72	2.916513	0.52546	.	.	ENSG00000144820	ENST00000273352;ENST00000475887	T;T	0.50001	0.76;1.22	5.47	-10.9	0.00192	.	2.183260	0.02407	N	0.081256	T	0.34774	0.0909	M	0.64997	1.995	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.23833	-1.0177	10	0.42905	T	0.14	.	0.4743	0.00537	0.2745:0.1649:0.1805:0.3801	.	492;787	E9PHI0;Q96K78	.;GP128_HUMAN	F	787;492	ENSP00000273352:L787F;ENSP00000419788:L492F	ENSP00000273352:L787F	L	+	1	0	GPR128	101896500	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-8.560000	0.00019	-3.311000	0.00190	-0.825000	0.03093	CTC	GPR128	-	NULL	ENSG00000144820		0.413	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR128	HGNC	protein_coding	OTTHUMT00000353236.1	64	0.00	0	C			100413810	100413810	+1	no_errors	ENST00000273352	ensembl	human	known	69_37n	missense	90	11.76	12	SNP	0.000	T
GPR144	347088	genome.wustl.edu	37	9	127220401	127220401	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:127220401G>C	ENST00000334810.1	+	9	1571	c.1571G>C	c.(1570-1572)gGa>gCa	p.G524A				Q7Z7M1	GP144_HUMAN	G protein-coupled receptor 144	524					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)			central_nervous_system(1)|endometrium(3)	4						GGCCTCTCTGGAGTCACCGTG	0.647																																						dbGAP											0													55.0	56.0	55.0					9																	127220401		692	1591	2283	-	-	-	SO:0001583	missense	0			AY278562		9q34.11	2014-08-08			ENSG00000180264	ENSG00000180264		"""-"", ""GPCR / Class B : Orphans"""	18651	protein-coding gene	gene with protein product							Standard	XM_006710216		Approved	PGR24	uc010mwn.3	Q7Z7M1	OTTHUMG00000020652	ENST00000334810.1:c.1571G>C	9.37:g.127220401G>C	ENSP00000335156:p.Gly524Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86SL4|Q8NH12	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_Pentaxin,pfam_GPS_dom,superfamily_ConA-like_lec_gl,superfamily_C-type_lectin_fold,smart_Pentaxin,smart_GPS_dom,prints_Pentaxin,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like	p.G524A	ENST00000334810.1	37	c.1571	CCDS48016.1	9	.	.	.	.	.	.	.	.	.	.	G	6.986	0.551960	0.13374	.	.	ENSG00000180264	ENST00000334810;ENST00000439837	T	0.47528	0.84	4.74	1.8	0.24995	.	.	.	.	.	T	0.34193	0.0889	L	0.51422	1.61	0.22001	N	0.999425	B	0.29716	0.255	B	0.29598	0.104	T	0.26916	-1.0089	9	0.07175	T	0.84	.	6.7296	0.23375	0.3248:0.0:0.6752:0.0	.	524	Q7Z7M1	GP144_HUMAN	A	524;255	ENSP00000335156:G524A	ENSP00000335156:G524A	G	+	2	0	GPR144	126260222	0.829000	0.29322	0.977000	0.42913	0.082000	0.17680	0.453000	0.21811	0.403000	0.25479	0.561000	0.74099	GGA	GPR144	-	NULL	ENSG00000180264		0.647	GPR144-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR144	HGNC	protein_coding	OTTHUMT00000054026.2	31	0.00	0	G	NM_182611		127220401	127220401	+1	no_errors	ENST00000334810	ensembl	human	known	69_37n	missense	36	20.00	9	SNP	0.995	C
GPR15	2838	genome.wustl.edu	37	3	98250987	98250987	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:98250987C>G	ENST00000284311.3	+	1	245	c.110C>G	c.(109-111)cCa>cGa	p.P37R		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	37			P -> S (in dbSNP:rs2230344).		G-protein coupled receptor signaling pathway (GO:0007186)|T cell migration (GO:0072678)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		GTCTTCCTTCCAGTCTTTTAC	0.483																																						dbGAP											0													80.0	75.0	77.0					3																	98250987		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2931.1	3q11.2-q13.1	2014-01-30			ENSG00000154165	ENSG00000154165		"""GPCR / Class A : Orphans"""	4469	protein-coding gene	gene with protein product		601166				8838812	Standard	NM_005290		Approved		uc011bgy.3	P49685	OTTHUMG00000160017	ENST00000284311.3:c.110C>G	3.37:g.98250987C>G	ENSP00000284311:p.Pro37Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3MIL4|Q6ISN6	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srg,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor,prints_ATII_rcpt	p.P37R	ENST00000284311.3	37	c.110	CCDS2931.1	3	.	.	.	.	.	.	.	.	.	.	C	16.20	3.056897	0.55325	.	.	ENSG00000154165	ENST00000284311	T	0.38077	1.16	4.68	4.68	0.58851	.	0.000000	0.49305	D	0.000153	T	0.44726	0.1307	L	0.34521	1.04	0.54753	D	0.999983	D	0.71674	0.998	P	0.58391	0.838	T	0.43718	-0.9374	10	0.87932	D	0	-13.3074	15.4765	0.75485	0.0:1.0:0.0:0.0	.	37	P49685	GPR15_HUMAN	R	37	ENSP00000284311:P37R	ENSP00000284311:P37R	P	+	2	0	GPR15	99733677	0.999000	0.42202	0.906000	0.35671	0.199000	0.23934	5.440000	0.66563	2.592000	0.87571	0.585000	0.79938	CCA	GPR15	-	prints_7TM_GPCR_Rhodpsn	ENSG00000154165		0.483	GPR15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR15	HGNC	protein_coding	OTTHUMT00000358907.1	72	0.00	0	C			98250987	98250987	+1	no_errors	ENST00000284311	ensembl	human	known	69_37n	missense	76	20.00	19	SNP	0.999	G
GPR155	151556	genome.wustl.edu	37	2	175326362	175326362	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:175326362C>G	ENST00000392552.2	-	8	1661	c.1423G>C	c.(1423-1425)Gag>Cag	p.E475Q	GPR155_ENST00000295500.4_Missense_Mutation_p.E475Q|GPR155_ENST00000392551.2_Missense_Mutation_p.E475Q	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	475					cognition (GO:0050890)|intracellular signal transduction (GO:0035556)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						TGTACCCTCTCTCGCTTTTTC	0.353																																						dbGAP											0													85.0	94.0	91.0					2																	175326362		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY255528	CCDS2259.1, CCDS74605.1	2q31.1	2012-04-10			ENSG00000163328	ENSG00000163328			22951	protein-coding gene	gene with protein product						12679517	Standard	NM_001033045		Approved	DEPDC3, DEP.7, FLJ31819, PGR22	uc002uiu.4	Q7Z3F1	OTTHUMG00000132336	ENST00000392552.2:c.1423G>C	2.37:g.175326362C>G	ENSP00000376335:p.Glu475Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCI2|D3DPE2|Q4G0Y6|Q53SJ3|Q53TA8|Q69YG8|Q86SP9|Q8N261|Q8N639|Q8N8K3|Q96MV6	Missense_Mutation	SNP	pfam_Auxin_eff,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom	p.E475Q	ENST00000392552.2	37	c.1423	CCDS2259.1	2	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394493	0.83011	.	.	ENSG00000163328	ENST00000392552;ENST00000392551;ENST00000295500	T;T;T	0.46819	0.86;0.86;0.86	5.55	5.55	0.83447	.	0.090708	0.85682	D	0.000000	T	0.59542	0.2201	L	0.55481	1.735	0.80722	D	1	D	0.67145	0.996	P	0.54856	0.762	T	0.59402	-0.7461	10	0.51188	T	0.08	-10.62	19.1122	0.93321	0.0:1.0:0.0:0.0	.	475	Q7Z3F1	GP155_HUMAN	Q	475	ENSP00000376335:E475Q;ENSP00000376334:E475Q;ENSP00000295500:E475Q	ENSP00000295500:E475Q	E	-	1	0	GPR155	175034608	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.655000	0.74392	2.616000	0.88540	0.655000	0.94253	GAG	GPR155	-	NULL	ENSG00000163328		0.353	GPR155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR155	HGNC	protein_coding	OTTHUMT00000255455.1	37	0.00	0	C	NM_152529		175326362	175326362	-1	no_errors	ENST00000295500	ensembl	human	known	69_37n	missense	58	18.31	13	SNP	1.000	G
GPR156	165829	genome.wustl.edu	37	3	119886618	119886618	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:119886618G>C	ENST00000464295.1	-	10	2151	c.1706C>G	c.(1705-1707)tCt>tGt	p.S569C	GPR156_ENST00000461057.1_Missense_Mutation_p.S565C|GPR156_ENST00000315843.3_Missense_Mutation_p.S569C			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	569						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		CTGATGACAAGAGGGGGCGGT	0.572																																						dbGAP											0													46.0	54.0	52.0					3																	119886618		2192	4274	6466	-	-	-	SO:0001583	missense	0			AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"""GPCR / Class C : Orphans"""	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.1706C>G	3.37:g.119886618G>C	ENSP00000417261:p.Ser569Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Missense_Mutation	SNP	pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3_GABA_rcpt_B	p.S569C	ENST00000464295.1	37	c.1706	CCDS2997.1	3	.	.	.	.	.	.	.	.	.	.	G	10.74	1.435071	0.25813	.	.	ENSG00000175697	ENST00000464295;ENST00000315843;ENST00000461057	T;T;T	0.26660	1.72;1.72;1.73	5.08	3.21	0.36854	.	0.862151	0.09980	N	0.731085	T	0.23210	0.0561	L	0.54323	1.7	0.09310	N	1	B;B	0.30406	0.278;0.278	B;B	0.21360	0.034;0.034	T	0.11348	-1.0591	9	.	.	.	-2.9306	10.1111	0.42563	0.0755:0.1361:0.7884:0.0	.	565;569	E9PFZ4;Q8NFN8	.;GP156_HUMAN	C	569;569;565	ENSP00000417261:S569C;ENSP00000324553:S569C;ENSP00000418758:S565C	.	S	-	2	0	GPR156	121369308	0.001000	0.12720	0.002000	0.10522	0.004000	0.04260	1.085000	0.30840	1.380000	0.46344	0.563000	0.77884	TCT	GPR156	-	NULL	ENSG00000175697		0.572	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR156	HGNC	protein_coding	OTTHUMT00000355139.1	12	0.00	0	G	NM_153002		119886618	119886618	-1	no_errors	ENST00000315843	ensembl	human	known	69_37n	missense	21	46.15	18	SNP	0.000	C
GPR179	440435	genome.wustl.edu	37	17	36485641	36485641	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:36485641C>T	ENST00000342292.4	-	11	3831	c.3811G>A	c.(3811-3813)Gaa>Aaa	p.E1271K	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1271					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GGGGCTCCTTCACTCGTCTCC	0.582																																						dbGAP											0													57.0	58.0	58.0					17																	36485641		1945	4140	6085	-	-	-	SO:0001583	missense	0				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.3811G>A	17.37:g.36485641C>T	ENSP00000345060:p.Glu1271Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_GPCR_3_C,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C	p.E1271K	ENST00000342292.4	37	c.3811	CCDS42308.1	17	.	.	.	.	.	.	.	.	.	.	C	9.340	1.062661	0.19987	.	.	ENSG00000188888	ENST00000342292	T	0.52526	0.66	5.12	3.0	0.34707	.	0.600256	0.15004	N	0.285947	T	0.36110	0.0955	L	0.42686	1.345	0.27970	N	0.936428	B	0.17852	0.024	B	0.12156	0.007	T	0.22487	-1.0215	10	0.42905	T	0.14	-7.3481	6.2562	0.20876	0.0:0.7752:0.0:0.2248	.	1271	Q6PRD1	GP179_HUMAN	K	1271	ENSP00000345060:E1271K	ENSP00000345060:E1271K	E	-	1	0	GPR179	33739167	0.002000	0.14202	0.374000	0.26016	0.680000	0.39746	0.564000	0.23563	1.377000	0.46286	0.462000	0.41574	GAA	GPR179	-	NULL	ENSG00000188888		0.582	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR179	HGNC	protein_coding	OTTHUMT00000255329.2	56	0.00	0	C			36485641	36485641	-1	no_errors	ENST00000342292	ensembl	human	known	69_37n	missense	30	34.78	16	SNP	0.844	T
GPR32	2854	genome.wustl.edu	37	19	51274289	51274289	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:51274289C>G	ENST00000270590.4	+	1	569	c.432C>G	c.(430-432)ctC>ctG	p.L144L		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	144					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		TCTCTGTCCTCTACCCCGTCT	0.602																																					Esophageal Squamous(113;152 1581 5732 15840 44398)	dbGAP											0													151.0	146.0	148.0					19																	51274289		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF045764	CCDS12801.1	19q13.33	2012-08-20			ENSG00000142511	ENSG00000142511		"""GPCR / Class A : Resolvin receptors"""	4487	protein-coding gene	gene with protein product	"""resolvin D1 receptor"""	603195				9653656	Standard	NM_001506		Approved	RVDR1	uc010ycf.3	O75388		ENST00000270590.4:c.432C>G	19.37:g.51274289C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q502U7|Q6NWS5	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Frt_met_rcpt	p.L144	ENST00000270590.4	37	c.432	CCDS12801.1	19																																																																																			GPR32	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Frt_met_rcpt	ENSG00000142511		0.602	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR32	HGNC	protein_coding	OTTHUMT00000465016.1	72	0.00	0	C			51274289	51274289	+1	no_errors	ENST00000270590	ensembl	human	known	69_37n	silent	70	26.32	25	SNP	0.565	G
GPR37L1	9283	genome.wustl.edu	37	1	202092631	202092631	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:202092631C>G	ENST00000367282.5	+	1	646	c.540C>G	c.(538-540)ctC>ctG	p.L180L		NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1	180					negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						TTCTGGTCCTCTTTTTCTGCC	0.542																																						dbGAP											0													104.0	83.0	90.0					1																	202092631		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ310210	CCDS1420.1	1q32	2012-08-21	2006-02-15		ENSG00000170075	ENSG00000170075		"""GPCR / Class A : Orphans"""	14923	protein-coding gene	gene with protein product						9539149	Standard	NM_004767		Approved	ETBR-LP-2	uc001gxj.3	O60883	OTTHUMG00000035924	ENST00000367282.5:c.540C>G	1.37:g.202092631C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7M9|Q5SXP7|Q86VP7	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,prints_GPR37_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.L180	ENST00000367282.5	37	c.540	CCDS1420.1	1																																																																																			GPR37L1	-	pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000170075		0.542	GPR37L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR37L1	HGNC	protein_coding	OTTHUMT00000087496.2	41	0.00	0	C	NM_004767		202092631	202092631	+1	no_errors	ENST00000367282	ensembl	human	known	69_37n	silent	69	17.65	15	SNP	1.000	G
GPR64	10149	genome.wustl.edu	37	X	19022967	19022967	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:19022967G>A	ENST00000379869.3	-	23	2033	c.1870C>T	c.(1870-1872)Caa>Taa	p.Q624*	GPR64_ENST00000379876.1_Nonsense_Mutation_p.Q600*|GPR64_ENST00000379878.3_Nonsense_Mutation_p.Q608*|GPR64_ENST00000357991.3_Nonsense_Mutation_p.Q621*|GPR64_ENST00000356606.4_Nonsense_Mutation_p.Q610*|GPR64_ENST00000360279.4_Nonsense_Mutation_p.Q602*|GPR64_ENST00000340581.3_Nonsense_Mutation_p.Q505*|GPR64_ENST00000354791.3_Nonsense_Mutation_p.Q608*|GPR64_ENST00000357544.3_Nonsense_Mutation_p.Q594*|GPR64_ENST00000379873.2_Nonsense_Mutation_p.Q624*	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	624					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					GCCATCATTTGAGCAGGCAGC	0.338																																						dbGAP											0													136.0	134.0	135.0					X																	19022967		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"""-"", ""GPCR / Class B : Orphans"""	4516	protein-coding gene	gene with protein product	"""epididymal protein 6"""	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.1870C>T	X.37:g.19022967G>A	ENSP00000369198:p.Gln624*	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Nonsense_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	p.Q624*	ENST00000379869.3	37	c.1870	CCDS43923.1	X	.	.	.	.	.	.	.	.	.	.	G	21.3	4.130111	0.77549	.	.	ENSG00000173698	ENST00000379873;ENST00000379878;ENST00000354791;ENST00000379876;ENST00000357544;ENST00000379869;ENST00000360279;ENST00000357991;ENST00000356606;ENST00000340581	.	.	.	5.9	4.08	0.47627	.	0.274197	0.25925	N	0.027418	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	15.6038	0.76646	0.0:0.253:0.747:0.0	.	.	.	.	X	624;608;608;600;594;624;602;621;610;505	.	ENSP00000344972:Q505X	Q	-	1	0	GPR64	18932888	1.000000	0.71417	0.454000	0.27019	0.089000	0.18198	5.076000	0.64413	0.590000	0.29694	-0.360000	0.07572	CAA	GPR64	-	NULL	ENSG00000173698		0.338	GPR64-003	KNOWN	basic|CCDS	protein_coding	GPR64	HGNC	protein_coding	OTTHUMT00000055970.2	79	0.00	0	G			19022967	19022967	-1	no_errors	ENST00000379869	ensembl	human	known	69_37n	nonsense	89	16.82	18	SNP	0.963	A
GPR64	10149	genome.wustl.edu	37	X	19026100	19026100	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:19026100G>C	ENST00000379869.3	-	19	1727	c.1564C>G	c.(1564-1566)Cag>Gag	p.Q522E	GPR64_ENST00000379876.1_Missense_Mutation_p.Q498E|GPR64_ENST00000379878.3_Missense_Mutation_p.Q506E|GPR64_ENST00000357991.3_Missense_Mutation_p.Q519E|GPR64_ENST00000356606.4_Missense_Mutation_p.Q508E|GPR64_ENST00000360279.4_Missense_Mutation_p.Q500E|GPR64_ENST00000340581.3_Intron|GPR64_ENST00000354791.3_Missense_Mutation_p.Q506E|GPR64_ENST00000357544.3_Missense_Mutation_p.Q492E|GPR64_ENST00000379873.2_Missense_Mutation_p.Q522E	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	522					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					AGTTTTACCTGAAACAAAGCA	0.403																																						dbGAP											0													64.0	56.0	59.0					X																	19026100		2203	4300	6503	-	-	-	SO:0001583	missense	0			X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"""-"", ""GPCR / Class B : Orphans"""	4516	protein-coding gene	gene with protein product	"""epididymal protein 6"""	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.1564C>G	X.37:g.19026100G>C	ENSP00000369198:p.Gln522Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	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	p.Q522E	ENST00000379869.3	37	c.1564	CCDS43923.1	X	.	.	.	.	.	.	.	.	.	.	G	19.23	3.787092	0.70337	.	.	ENSG00000173698	ENST00000379873;ENST00000379878;ENST00000354791;ENST00000379876;ENST00000357544;ENST00000379869;ENST00000360279;ENST00000357991;ENST00000356606	T;T;T;T;T;T;T;T;T	0.35973	1.28;1.39;1.39;1.39;1.4;1.42;1.4;1.42;1.42	5.61	5.61	0.85477	.	0.000000	0.51477	D	0.000086	T	0.56963	0.2021	M	0.67953	2.075	0.58432	D	0.999999	D;D;P;P;D;D;D;D;B;D	0.76494	0.995;0.999;0.562;0.562;0.999;0.999;0.999;0.999;0.427;0.998	D;D;P;P;D;D;D;D;B;D	0.70016	0.92;0.967;0.542;0.542;0.967;0.967;0.967;0.967;0.341;0.928	T	0.57057	-0.7876	10	0.48119	T	0.1	.	14.2343	0.65916	0.0:0.1449:0.8551:0.0	.	484;492;498;506;522;500;508;519;522;506	Q8IZP9-8;Q8IZP9-7;Q8IZP9-5;Q8IZP9-3;Q8IZP9-9;Q8IZP9-6;Q8IZP9-4;Q8IZP9-2;Q8IZP9;Q14CE1	.;.;.;.;.;.;.;.;GPR64_HUMAN;.	E	522;506;506;498;492;522;500;519;508	ENSP00000369202:Q522E;ENSP00000369207:Q506E;ENSP00000346845:Q506E;ENSP00000369205:Q498E;ENSP00000350152:Q492E;ENSP00000369198:Q522E;ENSP00000353421:Q500E;ENSP00000350680:Q519E;ENSP00000349015:Q508E	ENSP00000346845:Q506E	Q	-	1	0	GPR64	18936021	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	5.652000	0.67959	2.345000	0.79718	0.600000	0.82982	CAG	GPR64	-	NULL	ENSG00000173698		0.403	GPR64-003	KNOWN	basic|CCDS	protein_coding	GPR64	HGNC	protein_coding	OTTHUMT00000055970.2	64	0.00	0	G			19026100	19026100	-1	no_errors	ENST00000379869	ensembl	human	known	69_37n	missense	68	19.05	16	SNP	1.000	C
GPR64	10149	genome.wustl.edu	37	X	19042054	19042054	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:19042054G>A	ENST00000379869.3	-	12	646	c.483C>T	c.(481-483)ctC>ctT	p.L161L	GPR64_ENST00000379876.1_Silent_p.L137L|GPR64_ENST00000379878.3_Silent_p.L145L|GPR64_ENST00000357991.3_Silent_p.L158L|GPR64_ENST00000356606.4_Silent_p.L147L|GPR64_ENST00000360279.4_Silent_p.L139L|GPR64_ENST00000340581.3_Silent_p.L131L|GPR64_ENST00000354791.3_Silent_p.L145L|GPR64_ENST00000357544.3_Silent_p.L131L|GPR64_ENST00000379873.2_Silent_p.L161L	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	161					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					GGGTTTTGTTGAGCTCTGAGC	0.358																																						dbGAP											0													138.0	121.0	127.0					X																	19042054		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"""-"", ""GPCR / Class B : Orphans"""	4516	protein-coding gene	gene with protein product	"""epididymal protein 6"""	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.483C>T	X.37:g.19042054G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.L161	ENST00000379869.3	37	c.483	CCDS43923.1	X																																																																																			GPR64	-	NULL	ENSG00000173698		0.358	GPR64-003	KNOWN	basic|CCDS	protein_coding	GPR64	HGNC	protein_coding	OTTHUMT00000055970.2	182	0.00	0	G			19042054	19042054	-1	no_errors	ENST00000379869	ensembl	human	known	69_37n	silent	127	34.87	68	SNP	1.000	A
GPR97	222487	genome.wustl.edu	37	16	57713199	57713199	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:57713199C>T	ENST00000333493.4	+	5	764	c.603C>T	c.(601-603)gtC>gtT	p.V201V	RP11-405F3.4_ENST00000563062.1_RNA|GPR97_ENST00000450388.3_Silent_p.V81V|GPR97_ENST00000327655.6_5'UTR	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	201					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TGGAGATCGTCTTCTCTCACC	0.642																																						dbGAP											0													123.0	113.0	117.0					16																	57713199		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			AY140959	CCDS10786.1	16q13	2014-08-08			ENSG00000182885	ENSG00000182885		"""-"", ""GPCR / Class B : Orphans"""	13728	protein-coding gene	gene with protein product						12435584, 222487	Standard	NM_170776		Approved	Pb99, PGR26	uc002emh.3	Q86Y34	OTTHUMG00000133458	ENST00000333493.4:c.603C>T	16.37:g.57713199C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZMF4|Q86SL9|Q8IZF1	Silent	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.V201	ENST00000333493.4	37	c.603	CCDS10786.1	16																																																																																			GPR97	-	prints_GPCR_2_orphan_rcpt_GPR56	ENSG00000182885		0.642	GPR97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR97	HGNC	protein_coding	OTTHUMT00000257333.2	49	0.00	0	C	NM_170776		57713199	57713199	+1	no_errors	ENST00000333493	ensembl	human	known	69_37n	silent	25	32.43	12	SNP	1.000	T
GPR98	84059	genome.wustl.edu	37	5	89969930	89969930	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:89969930G>A	ENST00000405460.2	+	23	5085	c.4989G>A	c.(4987-4989)gtG>gtA	p.V1663V	GPR98_ENST00000450321.2_3'UTR	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1663	Calx-beta 11. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATTTCCGTGTGACATTGGTTT	0.393																																						dbGAP											0													123.0	115.0	117.0					5																	89969930		1897	4120	6017	-	-	-	SO:0001819	synonymous_variant	0			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.4989G>A	5.37:g.89969930G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.V1663	ENST00000405460.2	37	c.4989	CCDS47246.1	5																																																																																			GPR98	-	pfam_Calx_beta	ENSG00000164199		0.393	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	150	0.00	0	G	NM_032119		89969930	89969930	+1	no_errors	ENST00000405460	ensembl	human	known	69_37n	silent	62	31.11	28	SNP	0.979	A
GPR98	84059	genome.wustl.edu	37	5	90046507	90046507	+	Missense_Mutation	SNP	C	C	T	rs572181833		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:90046507C>T	ENST00000405460.2	+	53	11210	c.11114C>T	c.(11113-11115)tCa>tTa	p.S3705L		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3705	Calx-beta 24. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTTCCTACCTCAGGAGTGGTA	0.373													C|||	1	0.000199681	0.0008	0.0	5008	,	,		8154	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													163.0	162.0	163.0					5																	90046507		1863	4090	5953	-	-	-	SO:0001583	missense	0			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.11114C>T	5.37:g.90046507C>T	ENSP00000384582:p.Ser3705Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	O75171|Q8TF58|Q9H0X5|Q9UL61	Nonsense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR	p.Q1271*	ENST00000405460.2	37	c.3811	CCDS47246.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.3|24.3	4.513750|4.513750	0.85389|0.85389	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000509621|ENST00000405460;ENST00000296619	.|T	.|0.34072	.|1.38	5.22|5.22	5.22|5.22	0.72569|0.72569	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.60547	.|0.2277	M|M	0.71581|0.71581	2.175|2.175	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|0.97;1.0	.|P;D	.|0.66716	.|0.6;0.946	.|T	.|0.63734	.|-0.6570	.|10	.|0.72032	.|D	.|0.01	.|.	19.1636|19.1636	0.93544|0.93544	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|3705;3705	.|E7ETI5;Q8WXG9	.|.;GPR98_HUMAN	X|L	1271|3705	.|ENSP00000384582:S3705L	.|ENSP00000296619:S3705L	Q|S	+|+	1|2	0|0	GPR98|GPR98	90082263|90082263	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.557000|7.557000	0.82243|0.82243	2.590000|2.590000	0.87494|0.87494	0.655000|0.655000	0.94253|0.94253	CAG|TCA	GPR98	-	NULL	ENSG00000164199		0.373	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	68	0.00	0	C	NM_032119		90046507	90046507	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000509621	ensembl	human	putative	69_37n	nonsense	71	16.28	14	SNP	1.000	T
GPRASP1	9737	genome.wustl.edu	37	X	101909941	101909941	+	Nonsense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:101909941C>G	ENST00000361600.5	+	5	1901	c.1100C>G	c.(1099-1101)tCa>tGa	p.S367*	RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000415986.1_Nonsense_Mutation_p.S367*|GPRASP1_ENST00000444152.1_Nonsense_Mutation_p.S367*|GPRASP1_ENST00000537097.1_Nonsense_Mutation_p.S367*	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																																						dbGAP											1	Substitution - Nonsense(1)	cervix(1)											50.0	59.0	56.0					X																	101909941		2202	4299	6501	-	-	-	SO:0001587	stop_gained	0			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>G	X.37:g.101909941C>G	ENSP00000355146:p.Ser367*	Somatic		WXS	Illumina GAIIx	Phase_IV	O43168|Q96LA1	Nonsense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.S367*	ENST00000361600.5	37	c.1100	CCDS35352.1	X	.	.	.	.	.	.	.	.	.	.	C	41	8.843442	0.98974	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	.	.	.	2.32	-2.31	0.06765	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.1279	8.4942	0.33119	0.0:0.2467:0.0:0.7533	.	.	.	.	X	367	.	ENSP00000355146:S367X	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	ENSG00000198932		0.488	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRASP1	HGNC	protein_coding	OTTHUMT00000057634.2	33	0.00	0	C	NM_014710		101909941	101909941	+1	no_errors	ENST00000361600	ensembl	human	known	69_37n	nonsense	32	23.81	10	SNP	0.000	G
GPRC5B	51704	genome.wustl.edu	37	16	19884141	19884141	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:19884141C>T	ENST00000300571.2	-	2	218	c.27G>A	c.(25-27)atG>atA	p.M9I	GPRC5B_ENST00000569479.1_Missense_Mutation_p.M9I|GPRC5B_ENST00000569847.1_Missense_Mutation_p.M9I|GPRC5B_ENST00000535671.1_Missense_Mutation_p.M9I|GPRC5B_ENST00000537135.1_Missense_Mutation_p.M35I	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B	9					glucose homeostasis (GO:0042593)|locomotory behavior (GO:0007626)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein tyrosine kinase activity (GO:0061098)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GGTGAGCTCTCATCTTTCTCT	0.552																																						dbGAP											0													52.0	53.0	53.0					16																	19884141		2197	4300	6497	-	-	-	SO:0001583	missense	0			AF202640	CCDS10581.1	16p12	2014-01-30	2014-01-30		ENSG00000167191	ENSG00000167191		"""GPCR / Class C : Orphans"""	13308	protein-coding gene	gene with protein product		605948	"""G protein-coupled receptor, family C, group 1, member B"", ""G protein-coupled receptor, family C, group 5, member B"""			10493829, 10783259	Standard	XM_005255357		Approved	RAIG-2	uc002dgt.3	Q9NZH0	OTTHUMG00000131460	ENST00000300571.2:c.27G>A	16.37:g.19884141C>T	ENSP00000300571:p.Met9Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	D2DFB0|O75205|Q8NBZ8	Missense_Mutation	SNP	pfam_GPCR_3_C,pfscan_GPCR_3_C	p.M35I	ENST00000300571.2	37	c.105	CCDS10581.1	16	.	.	.	.	.	.	.	.	.	.	C	27.7	4.851726	0.91355	.	.	ENSG00000167191	ENST00000300571;ENST00000535671;ENST00000538074;ENST00000537135	T;T;T	0.26660	1.75;1.73;1.72	5.8	5.8	0.92144	.	0.176664	0.48767	D	0.000171	T	0.46964	0.1420	L	0.58810	1.83	0.58432	D	0.999995	P;P	0.50528	0.936;0.936	P;P	0.61201	0.885;0.885	T	0.10405	-1.0631	9	.	.	.	.	19.049	0.93034	0.0:1.0:0.0:0.0	.	35;9	B7Z831;Q9NZH0	.;GPC5B_HUMAN	I	9;9;9;35	ENSP00000300571:M9I;ENSP00000442858:M9I;ENSP00000441775:M35I	.	M	-	3	0	GPRC5B	19791642	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	5.244000	0.65400	2.755000	0.94549	0.655000	0.94253	ATG	GPRC5B	-	NULL	ENSG00000167191		0.552	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRC5B	HGNC	protein_coding	OTTHUMT00000254285.1	19	0.00	0	C			19884141	19884141	-1	no_errors	ENST00000537135	ensembl	human	known	69_37n	missense	14	33.33	7	SNP	1.000	T
GPRC5C	55890	genome.wustl.edu	37	17	72443133	72443133	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:72443133C>G	ENST00000392627.1	+	4	2553	c.1427C>G	c.(1426-1428)tCt>tGt	p.S476C	GPRC5C_ENST00000392629.2_Missense_Mutation_p.S443C|GPRC5C_ENST00000342648.5_Missense_Mutation_p.S116C|GPRC5C_ENST00000481232.1_3'UTR|GPRC5C_ENST00000582873.1_3'UTR	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, class C, group 5, member C	431					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|vesicle (GO:0031982)	G-protein coupled receptor activity (GO:0004930)	p.S443C(1)|p.S476C(1)		central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						GGCAAGAACTCTCAGGTCTTT	0.652																																						dbGAP											2	Substitution - Missense(2)	lung(2)											76.0	84.0	81.0					17																	72443133		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF207989	CCDS11699.1, CCDS42378.1	17q25	2014-01-30	2014-01-30		ENSG00000170412	ENSG00000170412		"""GPCR / Class C : Orphans"""	13309	protein-coding gene	gene with protein product		605949	"""G protein-coupled receptor, family C, group 5, member C"""			10945465	Standard	NM_022036		Approved	RAIG-3	uc002jkr.3	Q9NQ84	OTTHUMG00000067613	ENST00000392627.1:c.1427C>G	17.37:g.72443133C>G	ENSP00000376403:p.Ser476Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B5BUN4|Q2NL85|Q9NZG5	Missense_Mutation	SNP	pfam_GPCR_3_C,pfscan_GPCR_3_C	p.S476C	ENST00000392627.1	37	c.1427	CCDS11699.1	17	.	.	.	.	.	.	.	.	.	.	C	12.66	2.006062	0.35415	.	.	ENSG00000170412	ENST00000392627;ENST00000342648;ENST00000262616;ENST00000392629;ENST00000392628	T	0.20069	2.1	5.72	3.72	0.42706	.	0.242885	0.36444	N	0.002597	T	0.33206	0.0855	L	0.40543	1.245	0.19575	N	0.999966	D;P;P;D	0.89917	1.0;0.938;0.938;0.963	D;P;B;P	0.73380	0.98;0.541;0.436;0.639	T	0.05666	-1.0871	10	0.87932	D	0	-22.387	9.1033	0.36683	0.0:0.7754:0.1465:0.0782	.	142;431;431;443	Q9NXI0;A8MXZ4;Q9NQ84;Q9NQ84-2	.;.;GPC5C_HUMAN;.	C	431;476;142;443;431	ENSP00000376405:S443C	ENSP00000262616:S142C	S	+	2	0	GPRC5C	69954728	0.070000	0.21116	0.704000	0.30370	0.054000	0.15201	0.866000	0.27954	0.771000	0.33359	-0.175000	0.13238	TCT	GPRC5C	-	NULL	ENSG00000170412		0.652	GPRC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRC5C	HGNC	protein_coding	OTTHUMT00000145094.2	27	0.00	0	C			72443133	72443133	+1	no_errors	ENST00000392627	ensembl	human	known	69_37n	missense	60	14.29	10	SNP	0.207	G
GPRC6A	222545	genome.wustl.edu	37	6	117127879	117127879	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:117127879C>T	ENST00000310357.3	-	3	1010	c.989G>A	c.(988-990)aGa>aAa	p.R330K	GPRC6A_ENST00000368549.3_Missense_Mutation_p.R330K|GPRC6A_ENST00000530250.1_Intron	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	330					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TATATTCCCTCTTCTAAAGGC	0.393																																						dbGAP											0													105.0	102.0	103.0					6																	117127879		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"""GPCR / Class C : Calcium-sensing receptors"""	18510	protein-coding gene	gene with protein product			"""G protein-coupled receptor, family C, group 6, member A"""				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.989G>A	6.37:g.117127879C>T	ENSP00000309493:p.Arg330Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Missense_Mutation	SNP	pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_vmron_rcpt_2	p.R330K	ENST00000310357.3	37	c.989	CCDS5112.1	6	.	.	.	.	.	.	.	.	.	.	C	9.301	1.053012	0.19907	.	.	ENSG00000173612	ENST00000310357;ENST00000368549	D;D	0.83075	-1.68;-1.68	5.48	2.78	0.32641	Extracellular ligand-binding receptor (1);	0.326859	0.26352	N	0.024870	T	0.56156	0.1966	L	0.40543	1.245	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.13407	0.002;0.009	T	0.49476	-0.8936	10	0.11485	T	0.65	.	9.7951	0.40731	0.0:0.7013:0.0:0.2987	.	330;330	Q5T6X5-3;Q5T6X5	.;GPC6A_HUMAN	K	330	ENSP00000309493:R330K;ENSP00000357537:R330K	ENSP00000309493:R330K	R	-	2	0	GPRC6A	117234572	0.999000	0.42202	1.000000	0.80357	0.917000	0.54804	1.401000	0.34589	0.444000	0.26612	-0.157000	0.13467	AGA	GPRC6A	-	pfam_ANF_lig-bd_rcpt,prints_GPCR_3_vmron_rcpt_2	ENSG00000173612		0.393	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRC6A	HGNC	protein_coding	OTTHUMT00000041966.2	73	0.00	0	C			117127879	117127879	-1	no_errors	ENST00000310357	ensembl	human	known	69_37n	missense	49	28.99	20	SNP	1.000	T
GPSM2	29899	genome.wustl.edu	37	1	109446798	109446798	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:109446798C>G	ENST00000406462.2	+	11	1887	c.1114C>G	c.(1114-1116)Caa>Gaa	p.Q372E	GPSM2_ENST00000264126.3_Missense_Mutation_p.Q372E|AKNAD1_ENST00000357393.4_Intron			P81274	GPSM2_HUMAN	G-protein signaling modulator 2	372					establishment of mitotic spindle orientation (GO:0000132)|G-protein coupled receptor signaling pathway (GO:0007186)|lung epithelial cell differentiation (GO:0060487)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase regulator activity (GO:0030695)|identical protein binding (GO:0042802)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		CTCAGACCTTCAAATGGTTCT	0.328																																						dbGAP											0													88.0	84.0	85.0					1																	109446798		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY136740	CCDS792.2	1p13.3	2013-10-11	2010-06-24		ENSG00000121957	ENSG00000121957		"""Tetratricopeptide (TTC) repeat domain containing"""	29501	protein-coding gene	gene with protein product		609245	"""G-protein signalling modulator 2 (AGS3-like, C. elegans)"", ""deafness, autosomal recessive 82"""	DFNB82		11832491, 8973305, 19888295, 20602914, 21348867	Standard	NM_013296		Approved	LGN, Pins	uc010ovc.2	P81274	OTTHUMG00000011730	ENST00000406462.2:c.1114C>G	1.37:g.109446798C>G	ENSP00000385510:p.Gln372Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T1N8|Q6IBL7|Q8N0Z5	Missense_Mutation	SNP	pfam_GoLoco_motif,pfam_TPR-1,pfam_TPR-4,smart_TPR_repeat,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.Q372E	ENST00000406462.2	37	c.1114	CCDS792.2	1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.950946	0.53186	.	.	ENSG00000121957	ENST00000406462;ENST00000264126	T;T	0.76709	-1.04;-1.04	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.61813	0.2377	L	0.38531	1.155	0.53005	D	0.999966	B	0.02656	0.0	B	0.01281	0.0	T	0.58504	-0.7625	10	0.46703	T	0.11	-8.8133	18.1786	0.89769	0.0:1.0:0.0:0.0	.	372	P81274	GPSM2_HUMAN	E	372	ENSP00000385510:Q372E;ENSP00000264126:Q372E	ENSP00000264126:Q372E	Q	+	1	0	GPSM2	109248321	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	7.463000	0.80869	2.729000	0.93468	0.655000	0.94253	CAA	GPSM2	-	NULL	ENSG00000121957		0.328	GPSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPSM2	HGNC	protein_coding	OTTHUMT00000032400.3	87	0.00	0	C	NM_013296		109446798	109446798	+1	no_errors	ENST00000264126	ensembl	human	known	69_37n	missense	58	28.40	23	SNP	1.000	G
GPT2	84706	genome.wustl.edu	37	16	46956200	46956200	+	Nonsense_Mutation	SNP	G	G	T	rs200472294		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:46956200G>T	ENST00000340124.4	+	9	1196	c.1084G>T	c.(1084-1086)Gag>Tag	p.E362*	GPT2_ENST00000440783.2_Nonsense_Mutation_p.E262*	NM_133443.2	NP_597700.1	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase (alanine aminotransferase) 2	362					2-oxoglutarate metabolic process (GO:0006103)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|L-alanine metabolic process (GO:0042851)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|Phenelzine(DB00780)	CCTGCACCCTGAGATCAAGGG	0.597																																						dbGAP											0													97.0	80.0	86.0					16																	46956200		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS10725.1, CCDS45478.1	16q12.1	2008-02-05			ENSG00000166123	ENSG00000166123	2.6.1.2		18062	protein-coding gene	gene with protein product		138210					Standard	NM_133443		Approved	ALT2	uc002eel.3	Q8TD30	OTTHUMG00000132541	ENST00000340124.4:c.1084G>T	16.37:g.46956200G>T	ENSP00000345282:p.Glu362*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N9E2	Nonsense_Mutation	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	p.E362*	ENST00000340124.4	37	c.1084	CCDS10725.1	16	.	.	.	.	.	.	.	.	.	.	G	37	6.594660	0.97692	.	.	ENSG00000166123	ENST00000340124;ENST00000440783	.	.	.	4.84	4.84	0.62591	.	0.166946	0.52532	D	0.000074	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	18.3066	0.90184	0.0:0.0:1.0:0.0	.	.	.	.	X	362;262	.	ENSP00000345282:E362X	E	+	1	0	GPT2	45513701	1.000000	0.71417	0.997000	0.53966	0.962000	0.63368	6.521000	0.73778	2.407000	0.81776	0.462000	0.41574	GAG	GPT2	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	ENSG00000166123		0.597	GPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPT2	HGNC	protein_coding	OTTHUMT00000255741.2	52	0.00	0	G			46956200	46956200	+1	no_errors	ENST00000340124	ensembl	human	known	69_37n	nonsense	35	30.00	15	SNP	0.994	T
GRAP2	9402	genome.wustl.edu	37	22	40351888	40351888	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:40351888G>C	ENST00000344138.4	+	3	407	c.144G>C	c.(142-144)aaG>aaC	p.K48N	GRAP2_ENST00000407075.3_Missense_Mutation_p.K48N|GRAP2_ENST00000478445.1_3'UTR|GRAP2_ENST00000399090.2_Intron|GRAP2_ENST00000543252.1_Missense_Mutation_p.K48N|GRAP2_ENST00000540310.1_Intron|GRAP2_ENST00000544756.1_Intron	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	48	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell-cell signaling (GO:0007267)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleus (GO:0005634)	SH3/SH2 adaptor activity (GO:0005070)	p.K48N(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						ATGTGCCCAAGAATTTCATAG	0.453																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											107.0	94.0	98.0					22																	40351888		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF102694	CCDS13999.1	22q13.2	2013-02-14			ENSG00000100351	ENSG00000100351		"""SH2 domain containing"""	4563	protein-coding gene	gene with protein product		604518				9878555, 10224278	Standard	XM_005261836		Approved	Grf40, GrbX, GRBLG, GADS, Mona	uc003ayh.2	O75791	OTTHUMG00000151097	ENST00000344138.4:c.144G>C	22.37:g.40351888G>C	ENSP00000339186:p.Lys48Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z8I3|O43726|Q9NRB7	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH2,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain	p.K48N	ENST00000344138.4	37	c.144	CCDS13999.1	22	.	.	.	.	.	.	.	.	.	.	G	18.52	3.641834	0.67244	.	.	ENSG00000100351	ENST00000344138;ENST00000543252;ENST00000420971;ENST00000407075	T;T;T;T	0.30182	1.54;1.94;1.94;1.54	5.46	4.45	0.53987	Src homology-3 domain (2);	0.093973	0.64402	D	0.000001	T	0.41971	0.1182	L	0.37750	1.13	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.64410	0.925;0.925	T	0.32295	-0.9912	10	0.66056	D	0.02	-31.1498	11.9833	0.53131	0.0808:0.0:0.9192:0.0	.	48;48	Q6FI14;O75791	.;GRAP2_HUMAN	N	48	ENSP00000339186:K48N;ENSP00000446350:K48N;ENSP00000396355:K48N;ENSP00000385607:K48N	ENSP00000339186:K48N	K	+	3	2	GRAP2	38681834	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.846000	0.39289	1.311000	0.45024	0.655000	0.94253	AAG	GRAP2	-	pfam_SH3_2,smart_SH3_domain,pfscan_SH3_domain	ENSG00000100351		0.453	GRAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRAP2	HGNC	protein_coding	OTTHUMT00000321295.1	101	0.00	0	G	NM_004810		40351888	40351888	+1	no_errors	ENST00000344138	ensembl	human	known	69_37n	missense	104	30.26	46	SNP	1.000	C
GRAMD4	23151	genome.wustl.edu	37	22	47057285	47057285	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:47057285G>C	ENST00000406902.1	+	5	625	c.412G>C	c.(412-414)Gag>Cag	p.E138Q	GRAMD4_ENST00000361034.3_Missense_Mutation_p.E138Q			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	138					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		AAGAACCGAGGAGCAGATGGC	0.627																																						dbGAP											0													50.0	51.0	51.0					22																	47057285		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33672.1	22q13.31	2008-03-03			ENSG00000075240	ENSG00000075240			29113	protein-coding gene	gene with protein product	"""death-inducing-protein"""	613691				15565177	Standard	NM_015124		Approved	KIAA0767, DIP	uc003bhx.3	Q6IC98	OTTHUMG00000150402	ENST00000406902.1:c.412G>C	22.37:g.47057285G>C	ENSP00000385689:p.Glu138Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A9IN51|A9IN57|Q68EN0|Q9UGE6|Q9Y4B9	Missense_Mutation	SNP	pfam_GRAM,smart_GRAM	p.E138Q	ENST00000406902.1	37	c.412	CCDS33672.1	22	.	.	.	.	.	.	.	.	.	.	g	12.43	1.934595	0.34189	.	.	ENSG00000075240	ENST00000406902;ENST00000361034	T;T	0.41065	1.01;1.01	5.13	5.13	0.70059	.	0.309371	0.28927	N	0.013687	T	0.34106	0.0886	L	0.36672	1.1	0.33204	D	0.552492	B	0.28208	0.203	B	0.25759	0.063	T	0.45160	-0.9280	10	0.37606	T	0.19	-21.4582	14.5102	0.67780	0.0:0.0:1.0:0.0	.	138	Q6IC98	GRAM4_HUMAN	Q	138	ENSP00000385689:E138Q;ENSP00000354313:E138Q	ENSP00000354313:E138Q	E	+	1	0	GRAMD4	45435949	1.000000	0.71417	0.996000	0.52242	0.712000	0.41017	5.007000	0.63984	2.569000	0.86673	0.552000	0.68991	GAG	GRAMD4	-	NULL	ENSG00000075240		0.627	GRAMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRAMD4	HGNC	protein_coding	OTTHUMT00000317969.1	36	0.00	0	G	NM_015124		47057285	47057285	+1	no_errors	ENST00000361034	ensembl	human	known	69_37n	missense	41	10.87	5	SNP	1.000	C
GREB1	9687	genome.wustl.edu	37	2	11718469	11718469	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:11718469C>G	ENST00000381486.2	+	6	984	c.684C>G	c.(682-684)ctC>ctG	p.L228L	GREB1_ENST00000234142.5_Silent_p.L228L|GREB1_ENST00000389825.3_Silent_p.L118L|GREB1_ENST00000381483.2_Silent_p.L228L|GREB1_ENST00000263834.5_Silent_p.L228L	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	228						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CCAGTTCCCTCTTCCCAGCCC	0.602																																					Ovarian(39;850 945 2785 23371 33093)	dbGAP											0													112.0	114.0	114.0					2																	11718469		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.684C>G	2.37:g.11718469C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Silent	SNP	NULL	p.L228	ENST00000381486.2	37	c.684	CCDS42655.1	2																																																																																			GREB1	-	NULL	ENSG00000196208		0.602	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GREB1	HGNC	protein_coding	OTTHUMT00000280490.1	65	0.00	0	C	NM_014668		11718469	11718469	+1	no_errors	ENST00000234142	ensembl	human	known	69_37n	silent	32	46.67	28	SNP	0.842	G
GREB1L	80000	genome.wustl.edu	37	18	18981208	18981208	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr18:18981208G>C	ENST00000580732.2	+	6	1011	c.630G>C	c.(628-630)aaG>aaC	p.K210N	GREB1L_ENST00000431264.1_Missense_Mutation_p.K210N|RP11-296E23.1_ENST00000584611.1_RNA|GREB1L_ENST00000400483.4_Missense_Mutation_p.K210N|GREB1L_ENST00000424526.1_Missense_Mutation_p.K210N|GREB1L_ENST00000269218.6_Missense_Mutation_p.K210N|GREB1L_ENST00000578368.1_3'UTR			Q9C091	GRB1L_HUMAN	growth regulation by estrogen in breast cancer-like	210						integral component of membrane (GO:0016021)				breast(5)|endometrium(4)|kidney(6)|lung(1)|skin(1)	17						CTCAGCCAAAGAAGCAGAAGC	0.433																																						dbGAP											0													108.0	89.0	95.0					18																	18981208		692	1591	2283	-	-	-	SO:0001583	missense	0			AK023749	CCDS45836.1	18q11.2	2009-09-08	2009-09-08	2009-09-08					31042	protein-coding gene	gene with protein product			"""KIAA1772"""	KIAA1772		11214970	Standard	NM_001142966		Approved	FLJ13687, C18orf6	uc010xam.2	Q9C091		ENST00000580732.2:c.630G>C	18.37:g.18981208G>C	ENSP00000464162:p.Lys210Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A4QN17|Q9H8F1	Missense_Mutation	SNP	NULL	p.K210N	ENST00000580732.2	37	c.630	CCDS45836.1	18	.	.	.	.	.	.	.	.	.	.	G	16.96	3.267366	0.59540	.	.	ENSG00000141449	ENST00000424526;ENST00000269218;ENST00000400483;ENST00000431264	T;T;T;T	0.20738	2.82;2.74;2.05;2.05	5.8	4.75	0.60458	.	.	.	.	.	T	0.44623	0.1302	M	0.76574	2.34	0.47778	D	0.99951	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	T	0.27773	-1.0064	9	0.51188	T	0.08	.	12.1687	0.54146	0.1448:0.0:0.8552:0.0	.	210;210	Q9C091;Q9C091-2	GRB1L_HUMAN;.	N	210	ENSP00000412060:K210N;ENSP00000269218:K210N;ENSP00000383331:K210N;ENSP00000393125:K210N	ENSP00000269218:K210N	K	+	3	2	GREB1L	17235206	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.580000	0.53907	2.744000	0.94065	0.655000	0.94253	AAG	GREB1L	-	NULL	ENSG00000141449		0.433	GREB1L-003	KNOWN	not_organism_supported|upstream_uORF|basic|appris_principal|CCDS	protein_coding	GREB1L	HGNC	protein_coding	OTTHUMT00000443782.2	107	0.00	0	G	NM_024935		18981208	18981208	+1	no_errors	ENST00000424526	ensembl	human	known	69_37n	missense	39	27.78	15	SNP	1.000	C
GREM2	64388	genome.wustl.edu	37	1	240656740	240656740	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:240656740C>G	ENST00000318160.4	-	2	302	c.36G>C	c.(34-36)gtG>gtC	p.V12V		NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	gremlin 2, DAN family BMP antagonist	12					BMP signaling pathway (GO:0030509)|cytokine-mediated signaling pathway (GO:0019221)|determination of dorsal identity (GO:0048263)|embryonic body morphogenesis (GO:0010172)|regulation of cytokine activity (GO:0060300)|sequestering of BMP from receptor via BMP binding (GO:0038098)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	heparin binding (GO:0008201)			endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			CCAGCACCGCCACCAGGAACA	0.597																																						dbGAP											0													10.0	11.0	11.0					1																	240656740		2179	4259	6438	-	-	-	SO:0001819	synonymous_variant	0			AK024848	CCDS31070.1	1q43	2013-02-26	2013-02-26		ENSG00000180875	ENSG00000180875			17655	protein-coding gene	gene with protein product	"""protein related to DAN and cerberus"""	608832	"""gremlin 2, cysteine knot superfamily, homolog (Xenopus laevis)"", ""gremlin 2"""			15039429	Standard	XM_005273226		Approved	Prdc, FLJ21195, CKTSF1B2, DAND3	uc001hys.3	Q9H772	OTTHUMG00000039909	ENST00000318160.4:c.36G>C	1.37:g.240656740C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86UD9	Silent	SNP	pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C,pirsf_Gremlin_precursor,pfscan_Cys_knot_C	p.V12	ENST00000318160.4	37	c.36	CCDS31070.1	1																																																																																			GREM2	-	pirsf_Gremlin_precursor	ENSG00000180875		0.597	GREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GREM2	HGNC	protein_coding	OTTHUMT00000096286.1	13	0.00	0	C	NM_022469		240656740	240656740	-1	no_errors	ENST00000318160	ensembl	human	known	69_37n	silent	8	55.56	10	SNP	1.000	G
GRIA1	2890	genome.wustl.edu	37	5	153085554	153085554	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:153085554G>T	ENST00000285900.5	+	11	2093	c.1750G>T	c.(1750-1752)Gag>Tag	p.E584*	GRIA1_ENST00000521843.2_Nonsense_Mutation_p.E515*|GRIA1_ENST00000448073.4_Nonsense_Mutation_p.E594*|GRIA1_ENST00000340592.5_Nonsense_Mutation_p.E584*|GRIA1_ENST00000518783.1_Nonsense_Mutation_p.E594*|GRIA1_ENST00000518142.1_Nonsense_Mutation_p.E504*	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	584					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	CCAGTCCAATGAGTTTGGGAT	0.507																																						dbGAP											0													147.0	130.0	136.0					5																	153085554		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.1750G>T	5.37:g.153085554G>T	ENSP00000285900:p.Glu584*	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Nonsense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.E594*	ENST00000285900.5	37	c.1780	CCDS4322.1	5	.	.	.	.	.	.	.	.	.	.	G	38	7.240366	0.98157	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	.	.	.	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	17.7763	0.88510	0.0:0.0:1.0:0.0	.	.	.	.	X	584;584;504;538;584;515;515;594;594	.	ENSP00000285900:E584X	E	+	1	0	GRIA1	153065747	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.640000	0.98453	2.497000	0.84241	0.655000	0.94253	GAG	GRIA1	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000155511		0.507	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA1	HGNC	protein_coding	OTTHUMT00000252456.3	123	0.00	0	G			153085554	153085554	+1	no_errors	ENST00000448073	ensembl	human	known	69_37n	nonsense	102	16.94	21	SNP	1.000	T
GRIA2	2891	genome.wustl.edu	37	4	158224870	158224870	+	Silent	SNP	C	C	G	rs373142362		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:158224870C>G	ENST00000264426.9	+	3	675	c.396C>G	c.(394-396)ctC>ctG	p.L132L	GRIA2_ENST00000296526.7_Silent_p.L132L|GRIA2_ENST00000449365.1_Silent_p.L85L|GRIA2_ENST00000507898.1_Silent_p.L85L|GRIA2_ENST00000393815.2_Silent_p.L85L	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	132					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)	GACCCGACCTCAAAGGAGCTC	0.453																																						dbGAP											0													173.0	157.0	162.0					4																	158224870		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				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.396C>G	4.37:g.158224870C>G		Somatic		WXS	Illumina GAIIx	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.L132	ENST00000264426.9	37	c.396	CCDS43274.1	4																																																																																			GRIA2	-	pfam_ANF_lig-bd_rcpt	ENSG00000120251		0.453	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA2	HGNC	protein_coding	OTTHUMT00000258367.2	77	0.00	0	C			158224870	158224870	+1	no_errors	ENST00000264426	ensembl	human	known	69_37n	silent	62	26.19	22	SNP	1.000	G
GRID1	2894	genome.wustl.edu	37	10	87362126	87362126	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:87362126C>T	ENST00000327946.7	-	16	3019	c.2934G>A	c.(2932-2934)caG>caA	p.Q978Q	GRID1_ENST00000552278.2_5'UTR|GRID1_ENST00000536331.1_Silent_p.Q549Q	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	978					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						TCACCGGGCTCTGCCGGAACA	0.672										Multiple Myeloma(13;0.14)																												dbGAP											0													48.0	51.0	50.0					10																	87362126		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			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.2934G>A	10.37:g.87362126C>T		Somatic		WXS	Illumina GAIIx	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.Q978	ENST00000327946.7	37	c.2934	CCDS31236.1	10																																																																																			GRID1	-	NULL	ENSG00000182771		0.672	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID1	HGNC	protein_coding	OTTHUMT00000049148.3	24	0.00	0	C	XM_043613		87362126	87362126	-1	no_errors	ENST00000327946	ensembl	human	known	69_37n	silent	16	38.46	10	SNP	1.000	T
GRIK1	2897	genome.wustl.edu	37	21	31015152	31015152	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr21:31015152G>A	ENST00000399907.1	-	7	1503	c.1092C>T	c.(1090-1092)atC>atT	p.I364I	GRIK1_ENST00000399914.1_Silent_p.I364I|GRIK1_ENST00000399913.1_Silent_p.I364I|GRIK1_ENST00000327783.4_Silent_p.I364I|GRIK1_ENST00000535441.1_Silent_p.I364I|GRIK1_ENST00000389125.3_Silent_p.I364I|GRIK1_ENST00000389124.2_Silent_p.I364I|GRIK1_ENST00000309434.7_Silent_p.I364I|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000399909.1_Silent_p.I364I	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	364					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	TTGCCTCTTTGATCAGGTTCA	0.592																																						dbGAP											0													87.0	68.0	74.0					21																	31015152		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.1092C>T	21.37:g.31015152G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q13001|Q86SU9	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.I364	ENST00000399907.1	37	c.1092	CCDS42913.1	21																																																																																			GRIK1	-	pfam_ANF_lig-bd_rcpt	ENSG00000171189		0.592	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIK1	HGNC	protein_coding	OTTHUMT00000171979.1	56	0.00	0	G			31015152	31015152	-1	no_errors	ENST00000535441	ensembl	human	known	69_37n	silent	34	26.09	12	SNP	1.000	A
GRIK3	2899	genome.wustl.edu	37	1	37291371	37291371	+	Silent	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:37291371G>T	ENST00000373091.3	-	11	1603	c.1587C>A	c.(1585-1587)atC>atA	p.I529I	GRIK3_ENST00000373093.4_Silent_p.I529I	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	529					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				TGGAGAAGTCGATGGCCTTCT	0.547																																						dbGAP											0													126.0	118.0	120.0					1																	37291371		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.1587C>A	1.37:g.37291371G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A9Z1Z8|B1AMS6|Q13004|Q16136	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.I529	ENST00000373091.3	37	c.1587	CCDS416.1	1																																																																																			GRIK3	-	pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000163873		0.547	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK3	HGNC	protein_coding	OTTHUMT00000012053.1	59	0.00	0	G	NM_000831		37291371	37291371	-1	no_errors	ENST00000373091	ensembl	human	known	69_37n	silent	48	25.00	16	SNP	0.534	T
GRIK3	2899	genome.wustl.edu	37	1	37319310	37319310	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:37319310C>T	ENST00000373091.3	-	8	1134	c.1118G>A	c.(1117-1119)gGa>gAa	p.G373E	GRIK3_ENST00000373093.4_Missense_Mutation_p.G373E|GRIK3_ENST00000462621.1_5'UTR	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	373					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				TCCAGTTAATCCTTCCCATTG	0.468																																						dbGAP											0													95.0	91.0	92.0					1																	37319310		2203	4300	6503	-	-	-	SO:0001583	missense	0			U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.1118G>A	1.37:g.37319310C>T	ENSP00000362183:p.Gly373Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.G373E	ENST00000373091.3	37	c.1118	CCDS416.1	1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.573978	0.86542	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	T;T	0.39406	1.08;1.08	5.13	5.13	0.70059	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.69106	0.3074	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.74783	-0.3548	10	0.87932	D	0	.	18.6002	0.91246	0.0:1.0:0.0:0.0	.	373;373	A9Z1Z8;Q13003	.;GRIK3_HUMAN	E	373	ENSP00000362183:G373E;ENSP00000362185:G373E	ENSP00000362183:G373E	G	-	2	0	GRIK3	37091897	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.387000	0.81309	0.563000	0.77884	GGA	GRIK3	-	pfam_ANF_lig-bd_rcpt	ENSG00000163873		0.468	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK3	HGNC	protein_coding	OTTHUMT00000012053.1	90	0.00	0	C	NM_000831		37319310	37319310	-1	no_errors	ENST00000373091	ensembl	human	known	69_37n	missense	67	18.29	15	SNP	1.000	T
GRIN2A	2903	genome.wustl.edu	37	16	9858040	9858040	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:9858040C>G	ENST00000396573.2	-	14	3670	c.3361G>C	c.(3361-3363)Gat>Cat	p.D1121H	GRIN2A_ENST00000404927.2_Missense_Mutation_p.D1121H|GRIN2A_ENST00000535259.1_Missense_Mutation_p.D964H|GRIN2A_ENST00000562109.1_Missense_Mutation_p.D1121H|GRIN2A_ENST00000396575.2_Missense_Mutation_p.D1121H|GRIN2A_ENST00000330684.3_Missense_Mutation_p.D1121H	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1121					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TTCTCACCATCTATAGTGTAG	0.522																																						dbGAP											0													133.0	132.0	132.0					16																	9858040		2197	4300	6497	-	-	-	SO:0001583	missense	0				CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3361G>C	16.37:g.9858040C>G	ENSP00000379818:p.Asp1121His	Somatic		WXS	Illumina GAIIx	Phase_IV	O00669|Q17RZ6	Missense_Mutation	SNP	pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.D1121H	ENST00000396573.2	37	c.3361	CCDS10539.1	16	.	.	.	.	.	.	.	.	.	.	C	14.73	2.623868	0.46840	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.16457	2.34;2.34;2.37;2.34;2.34	5.42	5.42	0.78866	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.042627	0.85682	D	0.000000	T	0.43743	0.1261	M	0.76328	2.33	0.80722	D	1	D;D;D	0.71674	0.994;0.998;0.981	D;D;P	0.74674	0.972;0.984;0.889	T	0.24083	-1.0170	9	.	.	.	.	18.2268	0.89920	0.0:1.0:0.0:0.0	.	964;1121;1121	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	H	1121;1121;964;1121;1121	ENSP00000379818:D1121H;ENSP00000385872:D1121H;ENSP00000441572:D964H;ENSP00000332549:D1121H;ENSP00000379820:D1121H	.	D	-	1	0	GRIN2A	9765541	1.000000	0.71417	0.361000	0.25849	0.472000	0.32918	7.395000	0.79876	2.543000	0.85770	0.650000	0.86243	GAT	GRIN2A	-	pfam_NMDAR2_C	ENSG00000183454		0.522	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2A	HGNC	protein_coding	OTTHUMT00000251930.3	52	0.00	0	C			9858040	9858040	-1	no_errors	ENST00000330684	ensembl	human	known	69_37n	missense	29	53.97	34	SNP	0.995	G
GRM1	2911	genome.wustl.edu	37	6	146720702	146720702	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:146720702G>A	ENST00000282753.1	+	7	2762	c.2527G>A	c.(2527-2529)Gag>Aag	p.E843K	GRM1_ENST00000507907.1_Missense_Mutation_p.E843K|GRM1_ENST00000361719.2_Missense_Mutation_p.E843K|GRM1_ENST00000355289.4_Missense_Mutation_p.E843K|GRM1_ENST00000492807.2_Missense_Mutation_p.E843K|GRM1_ENST00000392299.2_Missense_Mutation_p.E843K			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	843					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		TGCCAAGCCTGAGAGGAATGT	0.507																																						dbGAP											0													115.0	94.0	101.0					6																	146720702		2203	4300	6503	-	-	-	SO:0001583	missense	0			U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.2527G>A	6.37:g.146720702G>A	ENSP00000282753:p.Glu843Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5,pfscan_GPCR_3_C	p.E843K	ENST00000282753.1	37	c.2527	CCDS5209.1	6	.	.	.	.	.	.	.	.	.	.	G	25.7	4.663664	0.88251	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.90004	-2.57;-2.6;-2.6;-2.57;-2.59;-2.6	5.68	5.68	0.88126	GPCR, family 3, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94424	0.8206	M	0.81341	2.54	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.80764	0.994;0.989;0.994	D	0.94456	0.7672	10	0.87932	D	0	.	19.7753	0.96389	0.0:0.0:1.0:0.0	.	843;843;843	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	K	843	ENSP00000354896:E843K;ENSP00000376119:E843K;ENSP00000424095:E843K;ENSP00000282753:E843K;ENSP00000347437:E843K;ENSP00000425599:E843K	ENSP00000282753:E843K	E	+	1	0	GRM1	146762395	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	9.869000	0.99810	2.686000	0.91538	0.585000	0.79938	GAG	GRM1	-	pfscan_GPCR_3_C	ENSG00000152822		0.507	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM1	HGNC	protein_coding	OTTHUMT00000042574.1	35	0.00	0	G	NM_000838		146720702	146720702	+1	no_errors	ENST00000282753	ensembl	human	known	69_37n	missense	33	28.26	13	SNP	1.000	A
GRP	2922	genome.wustl.edu	37	18	56892941	56892941	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr18:56892941C>G	ENST00000256857.2	+	2	455	c.357C>G	c.(355-357)ttC>ttG	p.F119L	GRP_ENST00000420468.2_Missense_Mutation_p.F119L|GRP_ENST00000529320.2_Missense_Mutation_p.F119L	NM_001012512.1|NM_002091.3	NP_001012530.1|NP_002082.2	P07492	GRP_HUMAN	gastrin-releasing peptide	119					neuropeptide signaling pathway (GO:0007218)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	neuropeptide hormone activity (GO:0005184)|receptor binding (GO:0005102)			large_intestine(1)|lung(3)	4		Colorectal(73;0.0946)				GCAGCAACTTCAAAGATGTAG	0.498																																						dbGAP											0													130.0	132.0	132.0					18																	56892941		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11971.1, CCDS45877.1, CCDS45878.1	18q21.1-q21.32	2013-02-26			ENSG00000134443	ENSG00000134443		"""Endogenous ligands"""	4605	protein-coding gene	gene with protein product	"""bombesin"", ""neuromedin C"", ""prepro-GRP"""	137260					Standard	NM_002091		Approved		uc002lhv.3	P07492	OTTHUMG00000132760	ENST00000256857.2:c.357C>G	18.37:g.56892941C>G	ENSP00000256857:p.Phe119Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	P07491|P81553|Q14454|Q53YA0|Q9BSY7	Nonsense_Mutation	SNP	NULL	p.S73*	ENST00000256857.2	37	c.218	CCDS11971.1	18	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	28.3|28.3|28.3	4.909653|4.909653|4.909653	0.92107|0.92107|0.92107	.|.|.	.|.|.	ENSG00000134443|ENSG00000134443|ENSG00000134443	ENST00000256857;ENST00000529320;ENST00000420468|ENST00000530323|ENST00000456142	T;T;T|.|.	0.30981|.|.	1.51;1.55;1.51|.|.	4.93|4.93|4.93	-7.39|-7.39|-7.39	0.01402|0.01402|0.01402	.|.|.	0.625637|.|.	0.15220|.|.	N|.|.	0.274001|.|.	T|T|.	0.36468|0.36468|.	0.0968|0.0968|.	L|L|L	0.54323|0.54323|0.54323	1.7|1.7|1.7	0.09310|0.09310|0.09310	N|N|N	1|1|1	D;D;B|.|.	0.64830|.|.	0.994;0.99;0.004|.|.	P;P;B|.|.	0.57720|.|.	0.826;0.675;0.009|.|.	T|T|.	0.43278|0.43278|.	-0.9401|-0.9401|.	10|5|.	0.32370|.|.	T|.|.	0.25|.|.	-2.4123|-2.4123|-2.4123	7.7966|7.7966|7.7966	0.29150|0.29150|0.29150	0.0:0.4226:0.3182:0.2592|0.0:0.4226:0.3182:0.2592|0.0:0.4226:0.3182:0.2592	.|.|.	119;119;119|.|.	P07492-3;P07492;P07492-2|.|.	.;GRP_HUMAN;.|.|.	L|E|X	119|15|75	ENSP00000256857:F119L;ENSP00000434101:F119L;ENSP00000389696:F119L|.|.	ENSP00000256857:F119L|.|.	F|Q|S	+|+|+	3|1|2	2|0|0	GRP|GRP|GRP	55043921|55043921|55043921	0.000000|0.000000|0.000000	0.05858|0.05858|0.05858	0.001000|0.001000|0.001000	0.08648|0.08648|0.08648	0.844000|0.844000|0.844000	0.47949|0.47949|0.47949	-1.594000|-1.594000|-1.594000	0.02094|0.02094|0.02094	-1.315000|-1.315000|-1.315000	0.02297|0.02297|0.02297	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	TTC|CAA|TCA	GRP	-	NULL	ENSG00000134443		0.498	GRP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRP	HGNC	protein_coding	OTTHUMT00000256131.2	77	0.00	0	C	NM_002091		56892941	56892941	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000456142	ensembl	human	novel	69_37n	nonsense	56	15.15	10	SNP	0.000	G
GSDMC	56169	genome.wustl.edu	37	8	130765006	130765006	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:130765006G>C	ENST00000276708.4	-	7	1663	c.782C>G	c.(781-783)tCa>tGa	p.S261*		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	261						cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						ggtatgaaatgatggtagcaa	0.433																																						dbGAP											0													179.0	156.0	164.0					8																	130765006		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB042405	CCDS6360.1	8q24.21	2014-05-14	2008-07-31	2008-07-31	ENSG00000147697	ENSG00000147697			7151	protein-coding gene	gene with protein product		608384	"""melanoma-derived leucine zipper, extra-nuclear factor"""	MLZE		17350798	Standard	NM_031415		Approved		uc003ysr.3	Q9BYG8	OTTHUMG00000164851	ENST00000276708.4:c.782C>G	8.37:g.130765006G>C	ENSP00000276708:p.Ser261*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5XKF3|Q6P494	Nonsense_Mutation	SNP	pfam_Gasdermin	p.S261*	ENST00000276708.4	37	c.782	CCDS6360.1	8	.	.	.	.	.	.	.	.	.	.	G	41	8.974897	0.99023	.	.	ENSG00000147697	ENST00000276708	.	.	.	0.235	0.235	0.15431	.	18.436800	0.00166	N	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	.	.	.	.	.	.	.	X	261	.	ENSP00000276708:S261X	S	-	2	0	GSDMC	130834188	0.004000	0.15560	0.002000	0.10522	0.002000	0.02628	0.334000	0.19787	0.308000	0.22923	0.313000	0.20887	TCA	GSDMC	-	pfam_Gasdermin	ENSG00000147697		0.433	GSDMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSDMC	HGNC	protein_coding	OTTHUMT00000380586.1	72	0.00	0	G			130765006	130765006	-1	no_errors	ENST00000276708	ensembl	human	known	69_37n	nonsense	97	19.17	23	SNP	0.003	C
GSK3A	2931	genome.wustl.edu	37	19	42744160	42744160	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:42744160C>A	ENST00000222330.3	-	2	545	c.418G>T	c.(418-420)Gag>Tag	p.E140*	AC006486.1_ENST00000378108.1_5'Flank|GSK3A_ENST00000398249.4_Nonsense_Mutation_p.E58*|AC006486.9_ENST00000594664.1_Nonsense_Mutation_p.E53*	NM_019884.2	NP_063937.2	P49840	GSK3A_HUMAN	glycogen synthase kinase 3 alpha	140	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cardiac left ventricle morphogenesis (GO:0003214)|cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|cellular response to interleukin-3 (GO:0036016)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glycogen metabolic process (GO:0005977)|hypermethylation of CpG island (GO:0044027)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transferase activity (GO:0051348)|negative regulation of type B pancreatic cell development (GO:2000077)|negative regulation of UDP-glucose catabolic process (GO:0010905)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of heart contraction (GO:0045823)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein phosphorylation (GO:0006468)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of systemic arterial blood pressure (GO:0003073)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cytosol (GO:0005829)	ATP binding (GO:0005524)|protein kinase A catalytic subunit binding (GO:0034236)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	19		Prostate(69;0.00682)				TCCCTGGTCTCTGCCAGCCGT	0.572																																						dbGAP											0													154.0	106.0	122.0					19																	42744160		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS12599.1	19q13	2008-02-15			ENSG00000105723	ENSG00000105723			4616	protein-coding gene	gene with protein product		606784				9809441	Standard	NM_019884		Approved		uc002otb.1	P49840	OTTHUMG00000150722	ENST00000222330.3:c.418G>T	19.37:g.42744160C>A	ENSP00000222330:p.Glu140*	Somatic		WXS	Illumina GAIIx	Phase_IV	O14959	Nonsense_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.E140*	ENST00000222330.3	37	c.418	CCDS12599.1	19	.	.	.	.	.	.	.	.	.	.	C	38	7.069634	0.98040	.	.	ENSG00000105723	ENST00000222330;ENST00000398249;ENST00000544315	.	.	.	4.98	4.98	0.66077	.	0.277685	0.33572	N	0.004775	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-11.6241	17.4027	0.87465	0.0:1.0:0.0:0.0	.	.	.	.	X	140;58;85	.	ENSP00000222330:E140X	E	-	1	0	GSK3A	47436000	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	4.478000	0.60230	2.506000	0.84524	0.555000	0.69702	GAG	GSK3A	-	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	ENSG00000105723		0.572	GSK3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSK3A	HGNC	protein_coding	OTTHUMT00000319782.1	84	0.00	0	C			42744160	42744160	-1	no_errors	ENST00000222330	ensembl	human	known	69_37n	nonsense	78	25.00	26	SNP	1.000	A
GSS	2937	genome.wustl.edu	37	20	33529601	33529601	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:33529601C>G	ENST00000216951.2	-	6	621	c.523G>C	c.(523-525)Gaa>Caa	p.E175Q	GSS_ENST00000451957.2_Intron|GSS_ENST00000541098.1_Missense_Mutation_p.E47Q	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase	175					aging (GO:0007568)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|nervous system development (GO:0007399)|response to amino acid (GO:0043200)|response to cadmium ion (GO:0046686)|response to nutrient levels (GO:0031667)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|glutathione binding (GO:0043295)|glutathione synthase activity (GO:0004363)|glycine binding (GO:0016594)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Acetylcysteine(DB06151)|Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	TTGCCAGCTTCTTTGGTCTTA	0.507																																						dbGAP											0													109.0	96.0	100.0					20																	33529601		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13245.1	20q11.2	1996-06-18			ENSG00000100983	ENSG00000100983	6.3.2.3		4624	protein-coding gene	gene with protein product		601002				8825653	Standard	NM_000178		Approved		uc002xbg.3	P48637	OTTHUMG00000032315	ENST00000216951.2:c.523G>C	20.37:g.33529601C>G	ENSP00000216951:p.Glu175Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R697|B6F210|E1P5P9|Q4TTD9	Missense_Mutation	SNP	pfam_Glutathione_synthase_euk,pfam_Glutathione_synth_subst-bd_euk,superfamily_PreATP-grasp_fold,pirsf_Glutathione_synthase_euk,tigrfam_Glutathione_synthase_euk	p.E175Q	ENST00000216951.2	37	c.523	CCDS13245.1	20	.	.	.	.	.	.	.	.	.	.	C	29.9	5.049057	0.93740	.	.	ENSG00000100983	ENST00000216951;ENST00000541098	D;D	0.90732	-2.72;-2.72	5.78	5.78	0.91487	Glutathione synthase, N-terminal, eukaryotic (1);	0.088063	0.85682	D	0.000000	D	0.92580	0.7643	L	0.42632	1.34	0.80722	D	1	D	0.67145	0.996	P	0.60789	0.879	D	0.89686	0.3894	10	0.25106	T	0.35	-14.7614	20.3668	0.98882	0.0:1.0:0.0:0.0	.	175	P48637	GSHB_HUMAN	Q	175;47	ENSP00000216951:E175Q;ENSP00000439744:E47Q	ENSP00000216951:E175Q	E	-	1	0	GSS	32993262	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	5.718000	0.68455	2.894000	0.99253	0.655000	0.94253	GAA	GSS	-	pfam_Glutathione_synthase_euk,pirsf_Glutathione_synthase_euk,tigrfam_Glutathione_synthase_euk	ENSG00000100983		0.507	GSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSS	HGNC	protein_coding	OTTHUMT00000078821.2	77	0.00	0	C			33529601	33529601	-1	no_errors	ENST00000216951	ensembl	human	known	69_37n	missense	100	19.35	24	SNP	1.000	G
GSTA3	2940	genome.wustl.edu	37	6	52767200	52767200	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:52767200G>A	ENST00000211122.3	-	4	281	c.216C>T	c.(214-216)ctC>ctT	p.L72L	GSTA3_ENST00000370968.1_Silent_p.L22L	NM_000847.4	NP_000838.3	Q16772	GSTA3_HUMAN	glutathione S-transferase alpha 3	72	GST N-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)	10	Lung NSC(77;0.0912)				Glutathione(DB00143)	CAATGTAGTTGAGAATGGCTC	0.423																																						dbGAP											0													189.0	183.0	185.0					6																	52767200		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF020919	CCDS4947.1	6p12.2	2012-06-21	2008-11-26		ENSG00000174156	ENSG00000174156	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4628	protein-coding gene	gene with protein product		605449	"""glutathione S-transferase A3"""			8307579, 9480897	Standard	NM_000847		Approved		uc003pbb.3	Q16772	OTTHUMG00000014865	ENST00000211122.3:c.216C>T	6.37:g.52767200G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O43468|Q068V6|Q8WWA8|Q9H415	Silent	SNP	pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_alpha	p.L72	ENST00000211122.3	37	c.216	CCDS4947.1	6																																																																																			GSTA3	-	pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold	ENSG00000174156		0.423	GSTA3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	GSTA3	HGNC	protein_coding	OTTHUMT00000040933.1	136	0.00	0	G			52767200	52767200	-1	no_errors	ENST00000211122	ensembl	human	known	69_37n	silent	94	44.38	75	SNP	1.000	A
GTF2IRD2P1	401375	genome.wustl.edu	37	7	72657790	72657790	+	RNA	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:72657790G>C	ENST00000425256.1	-	0	2121									GTF2I repeat domain containing 2 pseudogene 1																		gttttgctaggaacacccgga	0.488																																						dbGAP											0																																										-	-	-			0			AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72657790G>C		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000425256.1	37	NULL		7																																																																																			GTF2IRD2P1	-	-	ENSG00000214544		0.488	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	GTF2IRD2P1	HGNC	pseudogene	OTTHUMT00000345921.1	105	0.00	0	G	NR_002164		72657790	72657790	-1	no_errors	ENST00000425256	ensembl	human	known	69_37n	rna	121	21.43	33	SNP	0.551	C
GTF2IRD2P1	401375	genome.wustl.edu	37	7	72665467	72665467	+	RNA	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:72665467G>A	ENST00000425256.1	-	0	732									GTF2I repeat domain containing 2 pseudogene 1																		TTCAATGCTTGATAATCTTTC	0.284																																						dbGAP											0																																										-	-	-			0			AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72665467G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000425256.1	37	NULL		7																																																																																			GTF2IRD2P1	-	-	ENSG00000214544		0.284	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	GTF2IRD2P1	HGNC	pseudogene	OTTHUMT00000345921.1	28	0.00	0	G	NR_002164		72665467	72665467	-1	no_errors	ENST00000425256	ensembl	human	known	69_37n	rna	37	19.57	9	SNP	0.037	A
GTF2IRD2B	389524	genome.wustl.edu	37	7	74564025	74564025	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:74564025C>G	ENST00000312575.7	+	16	1947	c.1772C>G	c.(1771-1773)tCt>tGt	p.S591C	GTF2IRD2B_ENST00000418185.2_Missense_Mutation_p.S138C	NM_001003795.2	NP_001003795.1	Q6EKJ0	GTD2B_HUMAN	GTF2I repeat domain containing 2B	591					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|ovary(2)|prostate(1)	4						ggtacaaaatctggcaacgag	0.488																																						dbGAP											0													69.0	70.0	70.0					7																	74564025		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY312850	CCDS34659.1	7q11.23	2014-05-06			ENSG00000174428	ENSG00000174428			33125	protein-coding gene	gene with protein product		608900				15100712	Standard	XM_005277580		Approved		uc003ubt.3	Q6EKJ0	OTTHUMG00000181534	ENST00000312575.7:c.1772C>G	7.37:g.74564025C>G	ENSP00000308080:p.Ser591Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNE9|Q69GU6|Q8N979|Q9H739	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,superfamily_RNaseH-like_dom,pfscan_GTF2I	p.S591C	ENST00000312575.7	37	c.1772	CCDS34659.1	7	.	.	.	.	.	.	.	.	.	.	C	10.85	1.468021	0.26335	.	.	ENSG00000174428	ENST00000312575;ENST00000418185;ENST00000412484	T;T	0.23950	1.88;1.88	1.53	1.53	0.23141	Ribonuclease H-like (1);	.	.	.	.	T	0.34077	0.0885	L	0.36672	1.1	0.35791	D	0.822416	D;D	0.76494	0.999;0.999	D;D	0.74674	0.947;0.984	T	0.42982	-0.9419	9	0.72032	D	0.01	-5.7788	6.5351	0.22348	0.0:1.0:0.0:0.0	.	86;591	Q86Y00;Q6EKJ0	.;GTD2B_HUMAN	C	591;138;6	ENSP00000308080:S591C;ENSP00000411454:S138C	ENSP00000308080:S591C	S	+	2	0	GTF2IRD2B	74201961	0.842000	0.29525	0.980000	0.43619	0.939000	0.58152	1.774000	0.38573	1.164000	0.42652	0.430000	0.28490	TCT	GTF2IRD2B	-	superfamily_RNaseH-like_dom	ENSG00000174428		0.488	GTF2IRD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF2IRD2B	HGNC	protein_coding	OTTHUMT00000342728.1	89	0.00	0	C	NM_001003795		74564025	74564025	+1	no_errors	ENST00000312575	ensembl	human	known	69_37n	missense	71	33.64	36	SNP	0.990	G
GTF3C2	2976	genome.wustl.edu	37	2	27551026	27551026	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:27551026G>A	ENST00000359541.2	-	17	2716	c.2287C>T	c.(2287-2289)Cag>Tag	p.Q763*	GTF3C2_ENST00000264720.3_Nonsense_Mutation_p.Q763*|MPV17_ENST00000357186.6_5'Flank			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	763					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGACTGTCCTGATACGGTATC	0.433																																						dbGAP											0													81.0	78.0	79.0					2																	27551026		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			D13636	CCDS1749.1	2p23.3	2013-01-10	2002-08-29		ENSG00000115207	ENSG00000115207		"""General transcription factors"", ""WD repeat domain containing"""	4665	protein-coding gene	gene with protein product		604883	"""general transcription factor IIIC, polypeptide 2 (beta subunit, 110kD)"""			7729686	Standard	NM_001521		Approved	KIAA0011, TFIIIC110	uc002rjw.2	Q8WUA4	OTTHUMG00000097785	ENST00000359541.2:c.2287C>T	2.37:g.27551026G>A	ENSP00000352536:p.Gln763*	Somatic		WXS	Illumina GAIIx	Phase_IV	D6W557|Q16632|Q9BWI7	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q763*	ENST00000359541.2	37	c.2287	CCDS1749.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.67|15.67	2.902221|2.902221	0.52227|0.52227	.|.	.|.	ENSG00000115207|ENSG00000115207	ENST00000359541;ENST00000264720|ENST00000457098	.|.	.|.	.|.	5.15|5.15	3.05|3.05	0.35203|0.35203	.|.	0.453726|.	0.23407|.	N|.	0.048516|.	.|T	.|0.38532	.|0.1044	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.41787	.|-0.9489	.|3	0.08599|.	T|.	0.76|.	-12.836|-12.836	5.0499|5.0499	0.14503|0.14503	0.1177:0.2176:0.6647:0.0|0.1177:0.2176:0.6647:0.0	.|.	.|.	.|.	.|.	X|L	763|56	.|.	ENSP00000264720:Q763X|.	Q|S	-|-	1|2	0|0	GTF3C2|GTF3C2	27404530|27404530	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	1.897000|1.897000	0.39799|0.39799	2.395000|2.395000	0.81488|0.81488	0.650000|0.650000	0.86243|0.86243	CAG|TCA	GTF3C2	-	superfamily_WD40_repeat_dom	ENSG00000115207		0.433	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C2	HGNC	protein_coding	OTTHUMT00000215028.2	63	0.00	0	G			27551026	27551026	-1	no_errors	ENST00000264720	ensembl	human	known	69_37n	nonsense	52	17.46	11	SNP	0.999	A
GTF3C6	112495	genome.wustl.edu	37	6	111281801	111281801	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:111281801G>A	ENST00000329970.7	+	4	439	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K	snoU13_ENST00000458794.1_RNA|GTF3C6_ENST00000480191.1_3'UTR	NM_138408.3	NP_612417.1	Q969F1	TF3C6_HUMAN	general transcription factor IIIC, polypeptide 6, alpha 35kDa	77					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			NS(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(87;0.00328)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|Colorectal(196;0.0466)|all_epithelial(87;0.0575)		OV - Ovarian serous cystadenocarcinoma(136;0.105)|all cancers(137;0.179)|Epithelial(106;0.186)		TGTTATATTTGAAGAAAATGT	0.358																																						dbGAP											0													204.0	204.0	204.0					6																	111281801		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK057977	CCDS5087.1	6q21	2010-03-23	2007-07-26	2007-07-26	ENSG00000155115	ENSG00000155115		"""General transcription factors"""	20872	protein-coding gene	gene with protein product		611784	"""chromosome 6 open reading frame 51"""	C6orf51		17409385	Standard	NM_138408		Approved	bA397G5.3, TFIIIC35	uc003pum.3	Q969F1	OTTHUMG00000015370	ENST00000329970.7:c.229G>A	6.37:g.111281801G>A	ENSP00000357863:p.Glu77Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VXN2	Missense_Mutation	SNP	pfam_TFIIIC_tau55-rel	p.E77K	ENST00000329970.7	37	c.229	CCDS5087.1	6	.	.	.	.	.	.	.	.	.	.	g	27.0	4.786468	0.90367	.	.	ENSG00000155115	ENST00000329970	.	.	.	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.80544	0.4643	M	0.80746	2.51	0.50813	D	0.999893	D	0.89917	1.0	D	0.97110	1.0	T	0.80852	-0.1197	9	0.52906	T	0.07	-16.6926	18.3295	0.90263	0.0:0.0:1.0:0.0	.	77	Q969F1	TF3C6_HUMAN	K	77	.	ENSP00000357863:E77K	E	+	1	0	GTF3C6	111388494	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.077000	0.71275	2.708000	0.92522	0.643000	0.83706	GAA	GTF3C6	-	pfam_TFIIIC_tau55-rel	ENSG00000155115		0.358	GTF3C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C6	HGNC	protein_coding	OTTHUMT00000041820.1	200	0.00	0	G	NM_138408		111281801	111281801	+1	no_errors	ENST00000329970	ensembl	human	known	69_37n	missense	160	21.57	44	SNP	1.000	A
GTSF1L	149699	genome.wustl.edu	37	20	42355074	42355074	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:42355074C>T	ENST00000373003.1	-	1	564	c.261G>A	c.(259-261)caG>caA	p.Q87Q	GTSF1L_ENST00000373005.2_Silent_p.Q87Q	NM_001008901.1|NM_176791.3	NP_001008901.1|NP_789761.1	Q9H1H1	GTSFL_HUMAN	gametocyte specific factor 1-like	87							metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TGTCATCGTTCTGCTCTGAAC	0.507																																						dbGAP											0													138.0	115.0	123.0					20																	42355074		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK058060	CCDS13323.1, CCDS33471.1	20q13.12	2007-11-27	2007-11-27	2007-11-27	ENSG00000124196	ENSG00000124196			16198	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 65"", ""family with sequence similarity 112, member A"""	C20orf65, FAM112A			Standard	NM_176791		Approved	dJ1028D15.4	uc002xld.3	Q9H1H1	OTTHUMG00000032510	ENST00000373003.1:c.261G>A	20.37:g.42355074C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JWH5	Silent	SNP	pfam_TRM13/UPF0224_CHHC_Znf_dom	p.Q87	ENST00000373003.1	37	c.261	CCDS13323.1	20																																																																																			GTSF1L	-	NULL	ENSG00000124196		0.507	GTSF1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTSF1L	HGNC	protein_coding	OTTHUMT00000079313.1	107	0.00	0	C	NM_176791		42355074	42355074	-1	no_errors	ENST00000373003	ensembl	human	known	69_37n	silent	135	19.05	32	SNP	0.001	T
GUCA1C	9626	genome.wustl.edu	37	3	108626926	108626926	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:108626926C>T	ENST00000261047.3	-	4	705	c.573G>A	c.(571-573)gaG>gaA	p.E191E	GUCA1C_ENST00000393963.3_3'UTR	NM_005459.3	NP_005450.3	O95843	GUC1C_HUMAN	guanylate cyclase activator 1C	191					phototransduction, visible light (GO:0007603)|positive regulation of guanylate cyclase activity (GO:0031284)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)			endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						AGGAGTCTGTCTCCATGTCTG	0.463																																					NSCLC(157;1360 1999 30631 40189 44208)	dbGAP											0													106.0	99.0	101.0					3																	108626926		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF110002	CCDS2954.1	3q13.1	2013-01-10			ENSG00000138472	ENSG00000138472		"""EF-hand domain containing"""	4680	protein-coding gene	gene with protein product	"""guanylyl cyclase-activating protein 3"""	605128				10037746, 11860507	Standard	NM_005459		Approved	GCAP3	uc003dxj.2	O95843	OTTHUMG00000159204	ENST00000261047.3:c.573G>A	3.37:g.108626926C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O95844|Q9UNM0	Silent	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin	p.E191	ENST00000261047.3	37	c.573	CCDS2954.1	3																																																																																			GUCA1C	-	NULL	ENSG00000138472		0.463	GUCA1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCA1C	HGNC	protein_coding	OTTHUMT00000353819.1	118	0.00	0	C	NM_005459		108626926	108626926	-1	no_errors	ENST00000261047	ensembl	human	known	69_37n	silent	97	17.80	21	SNP	0.000	T
GUCY2D	3000	genome.wustl.edu	37	17	7916567	7916567	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:7916567G>A	ENST00000254854.4	+	11	2410	c.2260G>A	c.(2260-2262)Gag>Aag	p.E754K		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	754	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			skin(1)	1		Prostate(122;0.157)				GCTCACTCCCGAGGGTAAGGC	0.597																																						dbGAP											0													49.0	43.0	45.0					17																	7916567		2203	4300	6503	-	-	-	SO:0001583	missense	0			L26921	CCDS11127.1	17p13.1	2013-06-06			ENSG00000132518	ENSG00000132518			4689	protein-coding gene	gene with protein product		600179	"""cone rod dystrophy 6"""	CORD6, LCA, GUC2D, GUC1A4		1356371, 12552567	Standard	NM_000180		Approved	retGC, RETGC-1, ROS-GC1, CYGD, LCA1	uc002gjt.2	Q02846	OTTHUMG00000108169	ENST00000254854.4:c.2260G>A	17.37:g.7916567G>A	ENSP00000254854:p.Glu754Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6LEA7	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Haem_no_assoc-bd,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E754K	ENST00000254854.4	37	c.2260	CCDS11127.1	17	.	.	.	.	.	.	.	.	.	.	G	12.25	1.882353	0.33255	.	.	ENSG00000132518	ENST00000254854	D	0.83075	-1.68	5.11	1.83	0.25207	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.419958	0.20236	N	0.096393	T	0.69672	0.3137	L	0.33792	1.035	0.25948	N	0.982785	B	0.15930	0.015	B	0.15484	0.013	T	0.50197	-0.8856	10	0.10111	T	0.7	.	9.4655	0.38811	0.0764:0.2693:0.6542:0.0	.	754	Q02846	GUC2D_HUMAN	K	754	ENSP00000254854:E754K	ENSP00000254854:E754K	E	+	1	0	GUCY2D	7857292	0.134000	0.22483	0.863000	0.33907	0.703000	0.40648	0.563000	0.23547	0.262000	0.21774	0.561000	0.74099	GAG	GUCY2D	-	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	ENSG00000132518		0.597	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY2D	HGNC	protein_coding	OTTHUMT00000226973.2	27	0.00	0	G			7916567	7916567	+1	no_errors	ENST00000254854	ensembl	human	known	69_37n	missense	35	18.60	8	SNP	0.419	A
GUCY2F	2986	genome.wustl.edu	37	X	108625350	108625350	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:108625350G>C	ENST00000218006.2	-	17	3438	c.3147C>G	c.(3145-3147)ctC>ctG	p.L1049L		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	1049					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						ATTATACCTTGAGCTCTGTTC	0.438																																						dbGAP											0													163.0	157.0	159.0					X																	108625350		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.3147C>G	X.37:g.108625350G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UJF1	Silent	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Haem_no_assoc-bd,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase	p.L1049	ENST00000218006.2	37	c.3147	CCDS14545.1	X																																																																																			GUCY2F	-	pfam_A/G_cyclase,superfamily_A/G_cyclase	ENSG00000101890		0.438	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY2F	HGNC	protein_coding	OTTHUMT00000057884.1	82	0.00	0	G	NM_001522		108625350	108625350	-1	no_errors	ENST00000218006	ensembl	human	known	69_37n	silent	60	23.08	18	SNP	1.000	C
GUF1	60558	genome.wustl.edu	37	4	44693782	44693782	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:44693782G>A	ENST00000281543.5	+	13	1773	c.1579G>A	c.(1579-1581)Gac>Aac	p.D527N	RP11-700J17.1_ENST00000610260.1_RNA|GUF1_ENST00000506793.1_3'UTR	NM_021927.2	NP_068746.2			GUF1 GTPase homolog (S. cerevisiae)											breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						AGATTTTTATGACTCTTTGAA	0.318																																						dbGAP											0													95.0	110.0	105.0					4																	44693782		2203	4281	6484	-	-	-	SO:0001583	missense	0				CCDS3468.1	4p13	2006-02-16			ENSG00000151806	ENSG00000151806			25799	protein-coding gene	gene with protein product						8553703	Standard	NM_021927		Approved	FLJ13220	uc003gww.4	Q8N442	OTTHUMG00000128608	ENST00000281543.5:c.1579G>A	4.37:g.44693782G>A	ENSP00000281543:p.Asp527Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_ProtSyn_GTP-bd,pfam_LepA_GTP-bd_C,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_Small_GTPase,superfamily_Elongation_fac_G/III/V,superfamily_Transl_elong_init/rib_B-barrel,prints_ProtSyn_GTP-bd,tigrfam_EF-4,tigrfam_Small_GTP-bd_dom	p.D527N	ENST00000281543.5	37	c.1579	CCDS3468.1	4	.	.	.	.	.	.	.	.	.	.	G	28.5	4.928564	0.92389	.	.	ENSG00000151806	ENST00000281543	T	0.63744	-0.06	5.11	5.11	0.69529	Elongation factor G/III/V (1);Translation elongation factor EFG/EF2, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.81317	0.4797	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84257	0.0481	10	0.87932	D	0	-17.4127	17.8814	0.88841	0.0:0.0:1.0:0.0	.	527	Q8N442	GUF1_HUMAN	N	527	ENSP00000281543:D527N	ENSP00000281543:D527N	D	+	1	0	GUF1	44388539	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.301000	0.96167	2.526000	0.85167	0.655000	0.94253	GAC	GUF1	-	pfam_Transl_elong_EFG/EF2_C,superfamily_Elongation_fac_G/III/V,tigrfam_EF-4	ENSG00000151806		0.318	GUF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUF1	HGNC	protein_coding	OTTHUMT00000250469.3	88	0.00	0	G	NM_021927		44693782	44693782	+1	no_errors	ENST00000281543	ensembl	human	known	69_37n	missense	53	24.29	17	SNP	1.000	A
GUK1	2987	genome.wustl.edu	37	1	228335209	228335209	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:228335209C>G	ENST00000366718.1	+	5	781	c.354C>G	c.(352-354)atC>atG	p.I118M	GUK1_ENST00000391865.3_Missense_Mutation_p.I139M|GUK1_ENST00000366721.1_Missense_Mutation_p.I120M|GUK1_ENST00000366722.1_Missense_Mutation_p.I118M|GUK1_ENST00000312726.4_Missense_Mutation_p.I118M|GUK1_ENST00000366730.1_Missense_Mutation_p.I118M|GUK1_ENST00000366716.1_Missense_Mutation_p.I118M|GUK1_ENST00000366726.1_Missense_Mutation_p.I118M|GUK1_ENST00000366728.2_Missense_Mutation_p.I139M|GUK1_ENST00000366723.1_Missense_Mutation_p.I139M|GUK1_ENST00000470040.1_3'UTR|GJC2_ENST00000366714.2_5'Flank	NM_001159391.1	NP_001152863.1	Q16774	KGUA_HUMAN	guanylate kinase 1	118	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				ATP metabolic process (GO:0046034)|dATP metabolic process (GO:0046060)|dGDP biosynthetic process (GO:0006185)|dGMP metabolic process (GO:0046054)|drug metabolic process (GO:0017144)|GDP biosynthetic process (GO:0046711)|GDP-mannose metabolic process (GO:0019673)|glycoprotein transport (GO:0034436)|GMP metabolic process (GO:0046037)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleotide metabolic process (GO:0006163)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			endometrium(2)|lung(5)|prostate(1)|soft_tissue(1)	9		Prostate(94;0.0405)				TGCGGCCCATCTACATCTCTG	0.657																																						dbGAP											0													128.0	119.0	122.0					1																	228335209		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC006249	CCDS1568.1, CCDS53481.1, CCDS55689.1	1q32-q41	2012-10-02			ENSG00000143774	ENSG00000143774	2.7.4.8		4693	protein-coding gene	gene with protein product		139270				8647247	Standard	NM_000858		Approved		uc021pkf.1	Q16774	OTTHUMG00000039503	ENST00000366718.1:c.354C>G	1.37:g.228335209C>G	ENSP00000355679:p.Ile118Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B1ANH1	Missense_Mutation	SNP	pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin,tigrfam_Guanylate_kinase_sub	p.I118M	ENST00000366718.1	37	c.354	CCDS1568.1	1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.160803	0.38119	.	.	ENSG00000143774	ENST00000366730;ENST00000391865;ENST00000366726;ENST00000312726;ENST00000366728;ENST00000453943;ENST00000366723;ENST00000366722;ENST00000435153;ENST00000366721;ENST00000412265;ENST00000366718;ENST00000366716;ENST00000420445	T;T;T;T;T;T;T;T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;2.07;0.79;2.07;2.07;0.79;0.79;0.79;0.79;0.79	4.97	4.97	0.65823	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.158514	0.56097	D	0.000037	T	0.49253	0.1546	M	0.80028	2.48	0.53005	D	0.99996	P;B	0.36974	0.576;0.255	B;B	0.36378	0.223;0.171	T	0.52358	-0.8586	10	0.38643	T	0.18	.	11.5217	0.50555	0.0:0.9175:0.0:0.0825	.	139;118	B4E1H6;Q16774	.;KGUA_HUMAN	M	118;139;118;118;139;139;139;118;184;120;184;118;118;121	ENSP00000355691:I118M;ENSP00000375738:I139M;ENSP00000355687:I118M;ENSP00000317659:I118M;ENSP00000355689:I139M;ENSP00000401832:I139M;ENSP00000355684:I139M;ENSP00000355683:I118M;ENSP00000403664:I184M;ENSP00000355682:I120M;ENSP00000407604:I184M;ENSP00000355679:I118M;ENSP00000355677:I118M	ENSP00000317659:I118M	I	+	3	3	GUK1	226401832	1.000000	0.71417	1.000000	0.80357	0.462000	0.32619	1.841000	0.39240	2.575000	0.86900	0.563000	0.77884	ATC	GUK1	-	pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin,tigrfam_Guanylate_kinase_sub	ENSG00000143774		0.657	GUK1-021	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	GUK1	HGNC	protein_coding	OTTHUMT00000095944.1	35	0.00	0	C	NM_000858		228335209	228335209	+1	no_errors	ENST00000366722	ensembl	human	known	69_37n	missense	41	10.87	5	SNP	1.000	G
GUSB	2990	genome.wustl.edu	37	7	65444483	65444483	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:65444483G>C	ENST00000304895.4	-	4	757	c.627C>G	c.(625-627)ttC>ttG	p.F209L	GUSB_ENST00000476486.1_5'UTR|GUSB_ENST00000421103.1_Intron|GUSB_ENST00000345660.6_Missense_Mutation_p.F209L	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	209					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-glucuronidase activity (GO:0004566)	p.F209F(1)		breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						CAGCGTAGTTGAAAAAGTCAA	0.532																																						dbGAP											1	Substitution - coding silent(1)	lung(1)											111.0	104.0	107.0					7																	65444483		2203	4300	6503	-	-	-	SO:0001583	missense	0			M15182	CCDS5530.1, CCDS64665.1	7q11.21	2012-10-02			ENSG00000169919	ENSG00000169919	3.2.1.31		4696	protein-coding gene	gene with protein product		611499				3468507	Standard	NM_000181		Approved		uc003tun.3	P08236	OTTHUMG00000023735	ENST00000304895.4:c.627C>G	7.37:g.65444483G>C	ENSP00000302728:p.Phe209Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E1F6|E9PCV0|Q549U0|Q96CL9	Missense_Mutation	SNP	pfam_Glyco_hydro_2_TIM,pfam_Glyco_hydro_2_N,pfam_Glyco_hydro_2_Ig-like,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,superfamily_Glyco_hydro_2_Ig-like,prints_Glyco_hydro_2	p.F209L	ENST00000304895.4	37	c.627	CCDS5530.1	7	.	.	.	.	.	.	.	.	.	.	G	20.7	4.029972	0.75504	.	.	ENSG00000169919	ENST00000304895;ENST00000345660	D;D	0.95035	-3.59;-3.59	5.27	4.38	0.52667	Galactose-binding domain-like (1);Glycoside hydrolase, family 2, N-terminal (1);	0.091649	0.85682	D	0.000000	D	0.95749	0.8617	M	0.81112	2.525	0.52501	D	0.999956	D	0.60160	0.987	P	0.58266	0.836	D	0.95135	0.8258	10	0.62326	D	0.03	.	7.8158	0.29258	0.2371:0.0:0.7629:0.0	.	209	P08236	BGLR_HUMAN	L	209	ENSP00000302728:F209L;ENSP00000340734:F209L	ENSP00000302728:F209L	F	-	3	2	GUSB	65081918	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	3.599000	0.54045	2.464000	0.83262	0.556000	0.70494	TTC	GUSB	-	pfam_Glyco_hydro_2_N,superfamily_Galactose-bd-like	ENSG00000169919		0.532	GUSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUSB	HGNC	protein_coding	OTTHUMT00000251637.3	93	0.00	0	G	NM_000181		65444483	65444483	-1	no_errors	ENST00000304895	ensembl	human	known	69_37n	missense	54	50.91	56	SNP	1.000	C
GYG2	8908	genome.wustl.edu	37	X	2779626	2779626	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:2779626G>A	ENST00000381163.3	+	9	1276	c.994G>A	c.(994-996)Gaa>Aaa	p.E332K	GYG2_ENST00000338623.5_Missense_Mutation_p.E332K|GYG2_ENST00000542787.1_Missense_Mutation_p.E332K|GYG2_ENST00000381161.1_3'UTR|GYG2_ENST00000398806.3_Missense_Mutation_p.E301K	NM_001079855.1|NM_001184702.1|NM_003918.2	NP_001073324.1|NP_001171631.1|NP_003909.2	O15488	GLYG2_HUMAN	glycogenin 2	332					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	glycogenin glucosyltransferase activity (GO:0008466)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		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)				AGAGCCGTGTGAAAATTCAAC	0.572																																						dbGAP											0													75.0	60.0	65.0					X																	2779626		2203	4298	6501	-	-	-	SO:0001583	missense	0			U94361	CCDS14121.1, CCDS48074.1	Xp22.3	2013-02-22			ENSG00000056998	ENSG00000056998	2.4.1.186	"""Glycosyltransferase family 8 domain containing"""	4700	protein-coding gene	gene with protein product	"""glycogenin glucosyltransferase"""	300198				9857012	Standard	NM_001079855		Approved	GN-2	uc004cqs.1	O15488	OTTHUMG00000021079	ENST00000381163.3:c.994G>A	X.37:g.2779626G>A	ENSP00000370555:p.Glu332Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7WNN6|O15485|O15486|O15487|O15489|O15490	Missense_Mutation	SNP	pfam_Glyco_trans_8	p.E332K	ENST00000381163.3	37	c.994	CCDS14121.1	X	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.469519	0.01044	.	.	ENSG00000056998	ENST00000398806;ENST00000381163;ENST00000338623;ENST00000542787	T;T;T;T	0.42513	0.97;1.29;1.31;1.32	1.02	1.02	0.19986	.	3.704810	0.01393	N	0.013329	T	0.22126	0.0533	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.04013	0.001;0.0;0.0;0.0;0.0;0.001	T	0.18053	-1.0349	10	0.12103	T	0.63	.	5.1108	0.14808	0.0:0.0:1.0:0.0	.	332;332;292;301;301;332	O15488-6;O15488-4;O15488-3;A8K8Y1;O15488-2;O15488	.;.;.;.;.;GLYG2_HUMAN	K	301;332;332;332	ENSP00000381786:E301K;ENSP00000370555:E332K;ENSP00000341273:E332K;ENSP00000446092:E332K	ENSP00000341273:E332K	E	+	1	0	GYG2	2789626	0.011000	0.17503	0.016000	0.15963	0.014000	0.08584	0.422000	0.21296	0.805000	0.34159	0.529000	0.55759	GAA	GYG2	-	NULL	ENSG00000056998		0.572	GYG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GYG2	HGNC	protein_coding	OTTHUMT00000055645.1	100	0.00	0	G	NM_003918		2779626	2779626	+1	no_errors	ENST00000381163	ensembl	human	known	69_37n	missense	111	15.91	21	SNP	0.015	A
GYG2	8908	genome.wustl.edu	37	X	2779692	2779692	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:2779692C>T	ENST00000381163.3	+	9	1342	c.1060C>T	c.(1060-1062)Cag>Tag	p.Q354*	GYG2_ENST00000338623.5_Nonsense_Mutation_p.Q354*|GYG2_ENST00000542787.1_Nonsense_Mutation_p.Q354*|GYG2_ENST00000381161.1_3'UTR|GYG2_ENST00000398806.3_Nonsense_Mutation_p.Q323*	NM_001079855.1|NM_001184702.1|NM_003918.2	NP_001073324.1|NP_001171631.1|NP_003909.2	O15488	GLYG2_HUMAN	glycogenin 2	354					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	glycogenin glucosyltransferase activity (GO:0008466)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		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)				CCAGCCTGCTCAGGGCCTTCC	0.562																																						dbGAP											0													62.0	47.0	52.0					X																	2779692		2203	4298	6501	-	-	-	SO:0001587	stop_gained	0			U94361	CCDS14121.1, CCDS48074.1	Xp22.3	2013-02-22			ENSG00000056998	ENSG00000056998	2.4.1.186	"""Glycosyltransferase family 8 domain containing"""	4700	protein-coding gene	gene with protein product	"""glycogenin glucosyltransferase"""	300198				9857012	Standard	NM_001079855		Approved	GN-2	uc004cqs.1	O15488	OTTHUMG00000021079	ENST00000381163.3:c.1060C>T	X.37:g.2779692C>T	ENSP00000370555:p.Gln354*	Somatic		WXS	Illumina GAIIx	Phase_IV	B7WNN6|O15485|O15486|O15487|O15489|O15490	Nonsense_Mutation	SNP	pfam_Glyco_trans_8	p.Q354*	ENST00000381163.3	37	c.1060	CCDS14121.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.4|26.4	4.734381|4.734381	0.89482|0.89482	.|.	.|.	ENSG00000056998|ENSG00000056998	ENST00000398806;ENST00000381163;ENST00000338623;ENST00000542787|ENST00000381157	.|.	.|.	.|.	2.02|2.02	-0.00183|-0.00183	0.14032|0.14032	.|.	.|.	.|.	.|.	.|.	.|T	.|0.40570	.|0.1122	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.48031	.|-0.9070	.|3	0.49607|.	T|.	0.09|.	.|.	8.1799|8.1799	0.31305|0.31305	0.0:0.7137:0.2863:0.0|0.0:0.7137:0.2863:0.0	.|.	.|.	.|.	.|.	X|L	323;354;354;354|172	.|.	ENSP00000341273:Q354X|.	Q|S	+|+	1|2	0|0	GYG2|GYG2	2789692|2789692	0.034000|0.034000	0.19679|0.19679	0.001000|0.001000	0.08648|0.08648	0.030000|0.030000	0.12068|0.12068	0.080000|0.080000	0.14802|0.14802	-0.267000|-0.267000	0.09325|0.09325	0.529000|0.529000	0.55759|0.55759	CAG|TCA	GYG2	-	NULL	ENSG00000056998		0.562	GYG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GYG2	HGNC	protein_coding	OTTHUMT00000055645.1	76	0.00	0	C	NM_003918		2779692	2779692	+1	no_errors	ENST00000381163	ensembl	human	known	69_37n	nonsense	84	20.75	22	SNP	0.002	T
GZF1	64412	genome.wustl.edu	37	20	23350824	23350824	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:23350824G>C	ENST00000338121.5	+	6	1959	c.1882G>C	c.(1882-1884)Gag>Cag	p.E628Q	GZF1_ENST00000544236.1_Missense_Mutation_p.E152Q|GZF1_ENST00000542987.1_Missense_Mutation_p.E137Q|GZF1_ENST00000377051.2_Missense_Mutation_p.E628Q			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	628				E -> G (in Ref. 2; BAG51726). {ECO:0000305}.	branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|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 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 (GO:0043565)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					GCCTGACGAAGAGTATGTGTC	0.453																																						dbGAP											0													104.0	86.0	92.0					20																	23350824		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK025447	CCDS13151.1	20p11.21	2013-01-09	2006-09-19	2006-09-19	ENSG00000125812	ENSG00000125812		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	15808	protein-coding gene	gene with protein product		613842	"""zinc finger protein 336"""	ZNF336		14522971, 16049025	Standard	NM_022482		Approved	dJ322G13.2, ZBTB23	uc002wsz.3	Q9H116	OTTHUMG00000032069	ENST00000338121.5:c.1882G>C	20.37:g.23350824G>C	ENSP00000338290:p.Glu628Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	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.E628Q	ENST00000338121.5	37	c.1882	CCDS13151.1	20	.	.	.	.	.	.	.	.	.	.	G	16.55	3.155230	0.57259	.	.	ENSG00000125812	ENST00000544236;ENST00000338121;ENST00000542987;ENST00000377051	T;T;T;T	0.10005	3.05;2.92;3.36;2.92	5.77	5.77	0.91146	.	0.224645	0.29515	N	0.011940	T	0.13415	0.0325	L	0.29908	0.895	0.39532	D	0.96867	D	0.57899	0.981	P	0.46629	0.522	T	0.03017	-1.1082	10	0.34782	T	0.22	.	18.9709	0.92715	0.0:0.0:1.0:0.0	.	628	Q9H116	GZF1_HUMAN	Q	152;628;137;628	ENSP00000445458:E152Q;ENSP00000338290:E628Q;ENSP00000445118:E137Q;ENSP00000366250:E628Q	ENSP00000338290:E628Q	E	+	1	0	GZF1	23298824	1.000000	0.71417	0.964000	0.40570	0.057000	0.15508	6.677000	0.74503	2.728000	0.93425	0.655000	0.94253	GAG	GZF1	-	NULL	ENSG00000125812		0.453	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GZF1	HGNC	protein_coding	OTTHUMT00000078333.1	55	0.00	0	G	NM_022482		23350824	23350824	+1	no_errors	ENST00000338121	ensembl	human	known	69_37n	missense	74	17.78	16	SNP	0.981	C
GZMM	3004	genome.wustl.edu	37	19	549711	549711	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:549711G>T	ENST00000264553.3	+	5	732	c.694G>T	c.(694-696)Gac>Tac	p.D232Y		NM_001258351.1|NM_005317.3	NP_001245280.1|NP_005308	P51124	GRAM_HUMAN	granzyme M (lymphocyte met-ase 1)	232	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				apoptotic process (GO:0006915)|cytolysis (GO:0019835)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|membrane (GO:0016020)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|large_intestine(1)|prostate(1)	3		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|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;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GGTCTGCACTGACATCTTCAA	0.662																																						dbGAP											0													100.0	81.0	87.0					19																	549711		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12031.1, CCDS74240.1	19p13.3	2008-07-16				ENSG00000197540			4712	protein-coding gene	gene with protein product	"""lymphocyte met-ase 1"""	600311				8119738	Standard	NM_005317		Approved	MET1, LMET1	uc002low.2	P51124		ENST00000264553.3:c.694G>T	19.37:g.549711G>T	ENSP00000264553:p.Asp232Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.D232Y	ENST00000264553.3	37	c.694	CCDS12031.1	19	.	.	.	.	.	.	.	.	.	.	g	13.24	2.178841	0.38511	.	.	ENSG00000197540	ENST00000264553	D	0.89050	-2.46	3.71	0.205	0.15204	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.248184	0.20343	U	0.094186	D	0.88306	0.6401	L	0.39085	1.19	0.09310	N	1	D	0.89917	1.0	D	0.75020	0.985	T	0.78513	-0.2175	10	0.33940	T	0.23	.	6.4653	0.21977	0.3339:0.0:0.6661:0.0	.	232	P51124	GRAM_HUMAN	Y	232	ENSP00000264553:D232Y	ENSP00000264553:D232Y	D	+	1	0	GZMM	500711	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.611000	0.05622	-0.072000	0.12864	-1.111000	0.02071	GAC	GZMM	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000197540		0.662	GZMM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GZMM	HGNC	protein_coding	OTTHUMT00000451895.2	41	0.00	0	G	NM_005317		549711	549711	+1	no_errors	ENST00000264553	ensembl	human	known	69_37n	missense	24	36.84	14	SNP	0.000	T
H2AFB1	474382	genome.wustl.edu	37	X	154113468	154113468	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:154113468G>A	ENST00000354461.2	+	1	152	c.144G>A	c.(142-144)ctG>ctA	p.L48L	F8_ENST00000360256.4_Intron|F8_ENST00000330287.6_Intron|MIR1184-1_ENST00000408606.1_RNA|F8A1_ENST00000369446.2_5'Flank	NM_001017990.1	NP_001017990.1	P0C5Y9	H2AB1_HUMAN	H2A histone family, member B1	48					mRNA processing (GO:0006397)|nucleosome assembly (GO:0006334)	nuclear nucleosome (GO:0000788)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(1)	2	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CTCAGCGCCTGAGTCGCACGG	0.677																																						dbGAP											0													12.0	27.0	24.0					X																	154113468		679	2669	3348	-	-	-	SO:0001819	synonymous_variant	0				CCDS35458.1	Xq28	2011-01-27			ENSG00000198082	ENSG00000274183		"""Histones / Replication-independent"""	22516	protein-coding gene	gene with protein product							Standard	NM_001017990		Approved			P0C5Y9	OTTHUMG00000034291	ENST00000354461.2:c.144G>A	X.37:g.154113468G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A0PK90|P98176|Q5TZB2|Q6FG78|Q96PR7	Silent	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.L48	ENST00000354461.2	37	c.144	CCDS35458.1	X																																																																																			H2AFB1	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	ENSG00000198082		0.677	H2AFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	H2AFB1	HGNC	protein_coding	OTTHUMT00000082835.2	72	0.00	0	G	NM_001017990		154113468	154113468	+1	no_errors	ENST00000354461	ensembl	human	known	69_37n	silent	68	11.69	9	SNP	0.970	A
HACE1	57531	genome.wustl.edu	37	6	105243507	105243507	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:105243507C>G	ENST00000262903.4	-	10	1146	c.870G>C	c.(868-870)aaG>aaC	p.K290N	HACE1_ENST00000369125.2_Missense_Mutation_p.K290N	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	290					cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		TTGTTAGAATCTTTAGGTACT	0.348																																						dbGAP											0													127.0	117.0	121.0					6																	105243507		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC034982	CCDS5050.1	6q21	2013-01-10	2012-02-23		ENSG00000085382	ENSG00000085382		"""Ankyrin repeat domain containing"""	21033	protein-coding gene	gene with protein product		610876				10718198	Standard	NM_020771		Approved	KIAA1320	uc003pqu.1	Q8IYU2	OTTHUMG00000015287	ENST00000262903.4:c.870G>C	6.37:g.105243507C>G	ENSP00000262903:p.Lys290Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	Missense_Mutation	SNP	pfam_HECT,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT,prints_Ankyrin_rpt	p.K290N	ENST00000262903.4	37	c.870	CCDS5050.1	6	.	.	.	.	.	.	.	.	.	.	C	16.07	3.018114	0.54576	.	.	ENSG00000085382	ENST00000262903;ENST00000369125	T;T	0.38077	1.16;1.18	5.72	5.72	0.89469	.	0.134528	0.64402	D	0.000002	T	0.11836	0.0288	N	0.19112	0.55	0.49483	D	0.999797	B;P	0.34522	0.048;0.455	B;B	0.32624	0.06;0.149	T	0.07121	-1.0789	10	0.29301	T	0.29	.	10.8969	0.47027	0.0:0.8867:0.0:0.1133	.	290;290	E9PGP0;Q8IYU2	.;HACE1_HUMAN	N	290	ENSP00000262903:K290N;ENSP00000358121:K290N	ENSP00000262903:K290N	K	-	3	2	HACE1	105350200	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.372000	0.44257	2.699000	0.92147	0.591000	0.81541	AAG	HACE1	-	NULL	ENSG00000085382		0.348	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HACE1	HGNC	protein_coding	OTTHUMT00000041643.2	152	0.00	0	C	XM_045095		105243507	105243507	-1	no_errors	ENST00000262903	ensembl	human	known	69_37n	missense	100	21.88	28	SNP	1.000	G
HAL	3034	genome.wustl.edu	37	12	96370270	96370270	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:96370270C>G	ENST00000261208.3	-	20	2138	c.1770G>C	c.(1768-1770)tgG>tgC	p.W590C	HAL_ENST00000541929.1_Missense_Mutation_p.W382C|HAL_ENST00000538703.1_Intron	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	590					biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	histidine ammonia-lyase activity (GO:0004397)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	GATCTTTTATCCAGGGCCTAC	0.512																																					NSCLC(169;943 2815 23563 30031)	dbGAP											0													65.0	69.0	68.0					12																	96370270		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9058.1, CCDS58264.1, CCDS58265.1	12q22-q24.1	1991-07-12				ENSG00000084110	4.3.1.3		4806	protein-coding gene	gene with protein product		609457		HIS			Standard	NM_002108		Approved		uc001tem.2	P42357	OTTHUMG00000170354	ENST00000261208.3:c.1770G>C	12.37:g.96370270C>G	ENSP00000261208:p.Trp590Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DQC1|B4E0V8|F5GXF2|F5H1U5|Q4VB92|Q4VB93	Missense_Mutation	SNP	pfam_Aromatic_Lyase,superfamily_L-Aspartase-like,tigrfam_HutH	p.W590C	ENST00000261208.3	37	c.1770	CCDS9058.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.7|21.7	4.184577|4.184577	0.78677|0.78677	.|.	.|.	ENSG00000084110|ENSG00000084110	ENST00000548808|ENST00000261208;ENST00000541929	.|T;T	.|0.76316	.|-1.01;-1.01	5.4|5.4	5.4|5.4	0.78164|0.78164	.|L-Aspartase-like (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.87680|0.87680	0.6238|0.6238	M|M	0.76574|0.76574	2.34|2.34	0.80722|0.80722	D|D	1|1	.|D	.|0.58268	.|0.982	.|D	.|0.65140	.|0.932	D|D	0.88648|0.88648	0.3180|0.3180	5|10	.|0.72032	.|D	.|0.01	-9.6336|-9.6336	19.1606|19.1606	0.93529|0.93529	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|590	.|P42357	.|HUTH_HUMAN	H|C	122|590;382	.|ENSP00000261208:W590C;ENSP00000446364:W382C	.|ENSP00000261208:W590C	D|W	-|-	1|3	0|0	HAL|HAL	94894401|94894401	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.737000|0.737000	0.42083|0.42083	7.487000|7.487000	0.81328|0.81328	2.535000|2.535000	0.85469|0.85469	0.655000|0.655000	0.94253|0.94253	GAT|TGG	HAL	-	pfam_Aromatic_Lyase,superfamily_L-Aspartase-like,tigrfam_HutH	ENSG00000084110		0.512	HAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAL	HGNC	protein_coding	OTTHUMT00000408644.1	49	0.00	0	C			96370270	96370270	-1	no_errors	ENST00000261208	ensembl	human	known	69_37n	missense	41	21.15	11	SNP	1.000	G
HAL	3034	genome.wustl.edu	37	12	96384182	96384182	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:96384182C>T	ENST00000261208.3	-	10	1212	c.844G>A	c.(844-846)Gat>Aat	p.D282N	HAL_ENST00000541929.1_Missense_Mutation_p.D74N|HAL_ENST00000538703.1_Missense_Mutation_p.D282N|HAL_ENST00000551562.1_5'UTR	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	282					biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	histidine ammonia-lyase activity (GO:0004397)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	TATTTAGCATCAGCCCAGCCA	0.522																																					NSCLC(169;943 2815 23563 30031)	dbGAP											0													134.0	108.0	117.0					12																	96384182		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9058.1, CCDS58264.1, CCDS58265.1	12q22-q24.1	1991-07-12				ENSG00000084110	4.3.1.3		4806	protein-coding gene	gene with protein product		609457		HIS			Standard	NM_002108		Approved		uc001tem.2	P42357	OTTHUMG00000170354	ENST00000261208.3:c.844G>A	12.37:g.96384182C>T	ENSP00000261208:p.Asp282Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DQC1|B4E0V8|F5GXF2|F5H1U5|Q4VB92|Q4VB93	Missense_Mutation	SNP	pfam_Aromatic_Lyase,superfamily_L-Aspartase-like,tigrfam_HutH	p.D282N	ENST00000261208.3	37	c.844	CCDS9058.1	12	.	.	.	.	.	.	.	.	.	.	C	17.97	3.518264	0.64634	.	.	ENSG00000084110	ENST00000261208;ENST00000541929;ENST00000538703;ENST00000552509	T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05	5.45	5.45	0.79879	L-Aspartase-like (1);L-Aspartase-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.72985	0.3529	L	0.39397	1.21	0.80722	D	1	B;B	0.29590	0.25;0.003	B;B	0.29942	0.109;0.032	T	0.69752	-0.5060	10	0.38643	T	0.18	-22.5966	19.2797	0.94048	0.0:1.0:0.0:0.0	.	282;282	F5GXF2;P42357	.;HUTH_HUMAN	N	282;74;282;270	ENSP00000261208:D282N;ENSP00000446364:D74N;ENSP00000440861:D282N;ENSP00000450372:D270N	ENSP00000261208:D282N	D	-	1	0	HAL	94908313	1.000000	0.71417	0.993000	0.49108	0.934000	0.57294	7.335000	0.79234	2.573000	0.86826	0.561000	0.74099	GAT	HAL	-	pfam_Aromatic_Lyase,superfamily_L-Aspartase-like,tigrfam_HutH	ENSG00000084110		0.522	HAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAL	HGNC	protein_coding	OTTHUMT00000408644.1	48	0.00	0	C			96384182	96384182	-1	no_errors	ENST00000261208	ensembl	human	known	69_37n	missense	41	35.94	23	SNP	1.000	T
HAND1	9421	genome.wustl.edu	37	5	153855390	153855390	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:153855390G>C	ENST00000231121.2	-	2	879	c.624C>G	c.(622-624)gtC>gtG	p.V208V		NM_004821.2	NP_004812.1	O96004	HAND1_HUMAN	heart and neural crest derivatives expressed 1	208					angiogenesis (GO:0001525)|blastocyst development (GO:0001824)|cardiac left ventricle formation (GO:0003218)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cartilage morphogenesis (GO:0060536)|embryonic heart tube development (GO:0035050)|embryonic heart tube formation (GO:0003144)|heart development (GO:0007507)|heart looping (GO:0001947)|mesenchyme development (GO:0060485)|mesoderm formation (GO:0001707)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)|trophoblast giant cell differentiation (GO:0060707)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			CCAGCGCCCAGACTTGCTGCG	0.647																																						dbGAP											0													26.0	29.0	28.0					5																	153855390		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF061756	CCDS4327.1	5q33	2013-05-21			ENSG00000113196	ENSG00000113196		"""Basic helix-loop-helix proteins"""	4807	protein-coding gene	gene with protein product		602406				9337404, 9931445	Standard	NM_004821		Approved	eHand, Thing1, Hxt, bHLHa27	uc003lvn.3	O96004	OTTHUMG00000130193	ENST00000231121.2:c.624C>G	5.37:g.153855390G>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.V208	ENST00000231121.2	37	c.624	CCDS4327.1	5																																																																																			HAND1	-	NULL	ENSG00000113196		0.647	HAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAND1	HGNC	protein_coding	OTTHUMT00000252511.1	16	0.00	0	G	NM_004821		153855390	153855390	-1	no_errors	ENST00000231121	ensembl	human	known	69_37n	silent	20	28.57	8	SNP	1.000	C
HAND2	9464	genome.wustl.edu	37	4	174449933	174449933	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:174449933C>T	ENST00000359562.4	-	1	1447	c.508G>A	c.(508-510)Gag>Aag	p.E170K	HAND2-AS1_ENST00000510339.1_RNA|HAND2-AS1_ENST00000512099.1_RNA|HAND2-AS1_ENST00000507571.1_RNA|HAND2-AS1_ENST00000502334.1_RNA|HAND2-AS1_ENST00000503474.1_RNA|HAND2-AS1_ENST00000514431.1_RNA|HAND2_ENST00000505300.1_5'UTR|HAND2-AS1_ENST00000509866.1_RNA|HAND2-AS1_ENST00000503198.1_RNA|HAND2-AS1_ENST00000504429.1_RNA|HAND2-AS1_ENST00000502896.1_RNA|HAND2-AS1_ENST00000510221.1_RNA|HAND2-AS1_ENST00000508534.1_RNA|HAND2-AS1_ENST00000512943.1_RNA|HAND2-AS1_ENST00000515350.1_RNA|HAND2-AS1_ENST00000507636.1_RNA|HAND2-AS1_ENST00000502941.1_RNA|HAND2-AS1_ENST00000515376.1_RNA|HAND2-AS1_ENST00000507062.1_RNA|HAND2-AS1_ENST00000515741.1_RNA|HAND2-AS1_ENST00000505621.1_RNA|HAND2-AS1_ENST00000503309.1_RNA|HAND2-AS1_ENST00000515345.1_RNA|HAND2-AS1_ENST00000505817.1_RNA|HAND2-AS1_ENST00000515310.1_RNA|HAND2-AS1_ENST00000507322.1_RNA|HAND2-AS1_ENST00000508887.1_RNA|HAND2-AS1_ENST00000509640.1_RNA|HAND2-AS1_ENST00000512209.2_RNA|HAND2-AS1_ENST00000511196.1_RNA|HAND2-AS1_ENST00000505032.1_RNA|HAND2-AS1_ENST00000512246.1_RNA|HAND2-AS1_ENST00000511728.1_RNA|HAND2-AS1_ENST00000504740.1_RNA|HAND2-AS1_ENST00000514673.1_RNA|HAND2-AS1_ENST00000512929.1_RNA|HAND2-AS1_ENST00000510268.1_RNA	NM_021973.2	NP_068808.1	P61296	HAND2_HUMAN	heart and neural crest derivatives expressed 2	170					adult heart development (GO:0007512)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic process involved in heart morphogenesis (GO:0003278)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cardiac right ventricle formation (GO:0003219)|cartilage morphogenesis (GO:0060536)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|coronary artery morphogenesis (GO:0060982)|embryonic digit morphogenesis (GO:0042733)|heart development (GO:0007507)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mesenchymal cell proliferation (GO:0010463)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of DNA binding (GO:0043392)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural crest cell development (GO:0014032)|noradrenergic neuron differentiation (GO:0003357)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peripheral nervous system neuron development (GO:0048935)|positive regulation of semaphorin-plexin signaling pathway involved in outflow tract morphogenesis (GO:2000764)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in norepinephrine biosynthetic process (GO:2000763)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|sympathetic nervous system development (GO:0048485)|thymus development (GO:0048538)|tongue development (GO:0043586)|visceral serous pericardium development (GO:0061032)	nuclear chromatin (GO:0000790)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|E-box binding (GO:0070888)|protein homodimerization activity (GO:0042803)|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 regulatory region sequence-specific DNA binding (GO:0000977)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	13		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		TTCTTGATCTCTGCCTTGAAG	0.612																																						dbGAP											0													120.0	100.0	107.0					4																	174449933		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF087941	CCDS3819.1	4q34.1	2014-08-12			ENSG00000164107	ENSG00000164107		"""Basic helix-loop-helix proteins"""	4808	protein-coding gene	gene with protein product		602407				9878849	Standard	NM_021973		Approved	dHand, Thing2, Hed, bHLHa26	uc003ith.1	P61296	OTTHUMG00000160775	ENST00000359562.4:c.508G>A	4.37:g.174449933C>T	ENSP00000352565:p.Glu170Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B6ECG9|O95300|O95301|P97833|Q494T1	Missense_Mutation	SNP	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.E170K	ENST00000359562.4	37	c.508	CCDS3819.1	4	.	.	.	.	.	.	.	.	.	.	C	25.6	4.651552	0.88056	.	.	ENSG00000164107	ENST00000359562;ENST00000393686;ENST00000535864	D	0.96992	-4.2	5.0	5.0	0.66597	.	0.057283	0.64402	D	0.000002	D	0.95781	0.8627	L	0.57536	1.79	0.58432	D	0.999996	P;P	0.44429	0.835;0.835	P;P	0.45639	0.488;0.488	D	0.95110	0.8237	10	0.36615	T	0.2	-24.8916	18.4905	0.90844	0.0:1.0:0.0:0.0	.	170;170	B6ECG9;P61296	.;HAND2_HUMAN	K	170;139;118	ENSP00000352565:E170K	ENSP00000352565:E170K	E	-	1	0	HAND2	174686508	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.795000	0.62489	2.587000	0.87381	0.561000	0.74099	GAG	HAND2	-	NULL	ENSG00000164107		0.612	HAND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAND2	HGNC	protein_coding	OTTHUMT00000362241.3	153	0.00	0	C			174449933	174449933	-1	no_errors	ENST00000359562	ensembl	human	known	69_37n	missense	94	24.80	31	SNP	1.000	T
HAP1	9001	genome.wustl.edu	37	17	39887781	39887781	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:39887781C>A	ENST00000310778.5	-	6	1042	c.1033G>T	c.(1033-1035)Gaa>Taa	p.E345*	JUP_ENST00000540235.1_Intron|HAP1_ENST00000347901.4_Nonsense_Mutation_p.E345*|RN7SL399P_ENST00000471648.2_RNA|HAP1_ENST00000341193.5_Nonsense_Mutation_p.E353*|HAP1_ENST00000393939.2_Nonsense_Mutation_p.E345*			P54257	HAP1_HUMAN	huntingtin-associated protein 1	345	Glu-rich.|HAP1 N-terminal.				anterograde axon cargo transport (GO:0008089)|autophagy (GO:0006914)|brain development (GO:0007420)|cell projection organization (GO:0030030)|exocytosis (GO:0006887)|negative regulation of beta-amyloid formation (GO:1902430)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|positive regulation of neurotrophin production (GO:0032901)|positive regulation of nonmotile primary cilium assembly (GO:1902857)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|protein localization (GO:0008104)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of organelle transport along microtubule (GO:1902513)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)|vesicle transport along microtubule (GO:0047496)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synapse (GO:0045202)	brain-derived neurotrophic factor binding (GO:0048403)|ion channel binding (GO:0044325)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			AGCATCTGTTCCTCATCCTCA	0.552																																						dbGAP											0													160.0	129.0	140.0					17																	39887781		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF040723	CCDS11406.1, CCDS42338.1, CCDS42339.1	17q21.2-q21.3	2008-04-23	2008-04-23		ENSG00000173805	ENSG00000173805			4812	protein-coding gene	gene with protein product	"""neuroan 1"""	600947		HAP2		7477378, 9668110	Standard	NM_177977		Approved	HLP, hHLP1, HIP5	uc002hxn.1	P54257	OTTHUMG00000133498	ENST00000310778.5:c.1033G>T	17.37:g.39887781C>A	ENSP00000309392:p.Glu345*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90	Nonsense_Mutation	SNP	pfam_HAP1_N	p.E345*	ENST00000310778.5	37	c.1033		17	.	.	.	.	.	.	.	.	.	.	C	37	5.978073	0.97168	.	.	ENSG00000173805	ENST00000393939;ENST00000310778;ENST00000347901;ENST00000341193	.	.	.	4.14	4.14	0.48551	.	0.215160	0.23426	N	0.048320	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-13.7583	11.8003	0.52122	0.0:1.0:0.0:0.0	.	.	.	.	X	345;345;345;353	.	ENSP00000309392:E345X	E	-	1	0	HAP1	37141307	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	4.192000	0.58378	2.134000	0.65973	0.655000	0.94253	GAA	HAP1	-	pfam_HAP1_N	ENSG00000173805		0.552	HAP1-006	KNOWN	basic|appris_principal	protein_coding	HAP1	HGNC	protein_coding	OTTHUMT00000389619.1	69	0.00	0	C	NM_003949		39887781	39887781	-1	no_errors	ENST00000310778	ensembl	human	known	69_37n	nonsense	52	30.67	23	SNP	0.999	A
HAPLN1	1404	genome.wustl.edu	37	5	82937395	82937395	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:82937395C>T	ENST00000274341.4	-	5	1835	c.985G>A	c.(985-987)Gag>Aag	p.E329K		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	329	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	Hyaluronan(DB08818)	ACTGCAGCCTCAGTAGGACTG	0.542																																						dbGAP											0													110.0	117.0	115.0					5																	82937395		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4061.1	5q14.3	2013-01-11	2004-03-16	2004-03-17	ENSG00000145681	ENSG00000145681		"""Immunoglobulin superfamily / V-set domain containing"""	2380	protein-coding gene	gene with protein product	"""Cartilage link protein"", ""hyaluronan and proteoglycan link protein 1"""	115435	"""cartilage linking protein 1"""	CRTL1		2286376, 2320422	Standard	NM_001884		Approved		uc003kin.3	P10915	OTTHUMG00000119045	ENST00000274341.4:c.985G>A	5.37:g.82937395C>T	ENSP00000274341:p.Glu329Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9A9	Missense_Mutation	SNP	pfam_Link,pfam_Ig_V-set,superfamily_C-type_lectin_fold,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,prints_Link,pfscan_Link,pfscan_Ig-like	p.E329K	ENST00000274341.4	37	c.985	CCDS4061.1	5	.	.	.	.	.	.	.	.	.	.	C	19.68	3.873505	0.72180	.	.	ENSG00000145681	ENST00000274341	T	0.06849	3.25	5.22	5.22	0.72569	C-type lectin fold (1);Link (3);C-type lectin-like (1);	0.094910	0.64402	D	0.000001	T	0.16854	0.0405	L	0.31065	0.9	0.80722	D	1	P	0.46952	0.887	P	0.59221	0.854	T	0.06006	-1.0851	10	0.24483	T	0.36	.	19.1617	0.93535	0.0:1.0:0.0:0.0	.	329	P10915	HPLN1_HUMAN	K	329	ENSP00000274341:E329K	ENSP00000274341:E329K	E	-	1	0	HAPLN1	82973151	1.000000	0.71417	0.951000	0.38953	0.133000	0.20885	7.772000	0.85439	2.581000	0.87130	0.655000	0.94253	GAG	HAPLN1	-	pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link	ENSG00000145681		0.542	HAPLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAPLN1	HGNC	protein_coding	OTTHUMT00000239256.2	43	0.00	0	C	NM_001884		82937395	82937395	-1	no_errors	ENST00000274341	ensembl	human	known	69_37n	missense	35	22.22	10	SNP	1.000	T
HAT1	8520	genome.wustl.edu	37	2	172822934	172822934	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:172822934delG	ENST00000264108.4	+	7	652	c.616delG	c.(616-618)gagfs	p.E206fs	HAT1_ENST00000392584.1_Frame_Shift_Del_p.E121fs|SLC25A12_ENST00000472748.1_Intron	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	histone acetyltransferase 1	206					chromatin organization (GO:0006325)|chromatin silencing at telomere (GO:0006348)|DNA packaging (GO:0006323)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4 acetylation (GO:0043967)|internal protein amino acid acetylation (GO:0006475)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	H4 histone acetyltransferase activity (GO:0010485)|histone acetyltransferase activity (GO:0004402)			breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			CTGCAGATTTGAGAAGTATAA	0.438																																						dbGAP											0													105.0	98.0	101.0					2																	172822934		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF030424	CCDS2245.1	2q31.2-q33.1	2011-07-01			ENSG00000128708	ENSG00000128708	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"""	4821	protein-coding gene	gene with protein product		603053				9427644	Standard	NM_003642		Approved	KAT1	uc002uhi.3	O14929	OTTHUMG00000132282	ENST00000264108.4:c.616delG	2.37:g.172822934delG	ENSP00000264108:p.Glu206fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q49A44|Q53QF0|Q53SU4|Q6P594|Q8WWB9	Frame_Shift_Del	DEL	pfam_Hat1_N,superfamily_Acyl_CoA_acyltransferase,pirsf_Hist_AcTrfase_B-typ_cat-su	p.E206fs	ENST00000264108.4	37	c.616	CCDS2245.1	2																																																																																			HAT1	-	superfamily_Acyl_CoA_acyltransferase,pirsf_Hist_AcTrfase_B-typ_cat-su	ENSG00000128708		0.438	HAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAT1	HGNC	protein_coding	OTTHUMT00000255377.1	71	0.00	0	G	NM_003642		172822934	172822934	+1	no_errors	ENST00000264108	ensembl	human	known	69_37n	frame_shift_del	63	22.62	19	DEL	1.000	-
HAT1	8520	genome.wustl.edu	37	2	172822936	172822936	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:172822936G>A	ENST00000264108.4	+	7	654	c.618G>A	c.(616-618)gaG>gaA	p.E206E	HAT1_ENST00000392584.1_Silent_p.E121E|SLC25A12_ENST00000472748.1_Intron	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	histone acetyltransferase 1	206					chromatin organization (GO:0006325)|chromatin silencing at telomere (GO:0006348)|DNA packaging (GO:0006323)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4 acetylation (GO:0043967)|internal protein amino acid acetylation (GO:0006475)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	H4 histone acetyltransferase activity (GO:0010485)|histone acetyltransferase activity (GO:0004402)			breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GCAGATTTGAGAAGTATAATA	0.438																																						dbGAP											0													106.0	100.0	102.0					2																	172822936		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF030424	CCDS2245.1	2q31.2-q33.1	2011-07-01			ENSG00000128708	ENSG00000128708	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"""	4821	protein-coding gene	gene with protein product		603053				9427644	Standard	NM_003642		Approved	KAT1	uc002uhi.3	O14929	OTTHUMG00000132282	ENST00000264108.4:c.618G>A	2.37:g.172822936G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q49A44|Q53QF0|Q53SU4|Q6P594|Q8WWB9	Silent	SNP	pfam_Hat1_N,superfamily_Acyl_CoA_acyltransferase,pirsf_Hist_AcTrfase_B-typ_cat-su	p.E206	ENST00000264108.4	37	c.618	CCDS2245.1	2																																																																																			HAT1	-	superfamily_Acyl_CoA_acyltransferase,pirsf_Hist_AcTrfase_B-typ_cat-su	ENSG00000128708		0.438	HAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAT1	HGNC	protein_coding	OTTHUMT00000255377.1	73	0.00	0	G	NM_003642		172822936	172822936	+1	no_errors	ENST00000264108	ensembl	human	known	69_37n	silent	64	24.71	21	SNP	1.000	A
HAUS6	54801	genome.wustl.edu	37	9	19080562	19080562	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:19080562G>C	ENST00000380502.3	-	9	1446	c.979C>G	c.(979-981)Caa>Gaa	p.Q327E	HAUS6_ENST00000380496.1_Missense_Mutation_p.Q191E	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	327					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AATCTTGCTTGATCAGCCTGA	0.353																																						dbGAP											0													120.0	109.0	113.0					9																	19080562		2203	4297	6500	-	-	-	SO:0001583	missense	0			AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"""HAUS augmin-like complex subunits"""	25948	protein-coding gene	gene with protein product		613433	"""family with sequence similarity 29, member A"""	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622	ENST00000380502.3:c.979C>G	9.37:g.19080562G>C	ENSP00000369871:p.Gln327Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Missense_Mutation	SNP	NULL	p.Q327E	ENST00000380502.3	37	c.979	CCDS6489.1	9	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.280587	0.00254	.	.	ENSG00000147874	ENST00000380502;ENST00000380496	T;T	0.22743	1.95;1.94	5.49	4.6	0.57074	.	0.640530	0.15759	N	0.246032	T	0.27313	0.0670	L	0.57536	1.79	0.18873	N	0.999983	B;B;P;B	0.44139	0.019;0.01;0.827;0.019	B;B;P;B	0.46543	0.009;0.005;0.52;0.009	T	0.06881	-1.0802	10	0.29301	T	0.29	-3.0468	10.4546	0.44542	0.0783:0.139:0.7827:0.0	.	327;327;191;327	Q7Z4H7-3;Q7Z4H7-2;Q5VY60;Q7Z4H7	.;.;.;HAUS6_HUMAN	E	327;191	ENSP00000369871:Q327E;ENSP00000369865:Q191E	ENSP00000369865:Q191E	Q	-	1	0	HAUS6	19070562	0.937000	0.31787	1.000000	0.80357	0.074000	0.17049	1.124000	0.31320	0.698000	0.31739	-1.273000	0.01405	CAA	HAUS6	-	NULL	ENSG00000147874		0.353	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAUS6	HGNC	protein_coding	OTTHUMT00000051825.1	158	0.00	0	G	NM_017645		19080562	19080562	-1	no_errors	ENST00000380502	ensembl	human	known	69_37n	missense	135	19.64	33	SNP	0.999	C
HAUS6	54801	genome.wustl.edu	37	9	19096674	19096674	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:19096674G>C	ENST00000380502.3	-	2	689	c.222C>G	c.(220-222)ttC>ttG	p.F74L		NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	74					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTCCTTACTTGAAAACTTCTT	0.313																																						dbGAP											0													36.0	40.0	39.0					9																	19096674		2202	4297	6499	-	-	-	SO:0001583	missense	0			AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"""HAUS augmin-like complex subunits"""	25948	protein-coding gene	gene with protein product		613433	"""family with sequence similarity 29, member A"""	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622	ENST00000380502.3:c.222C>G	9.37:g.19096674G>C	ENSP00000369871:p.Phe74Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Missense_Mutation	SNP	NULL	p.F74L	ENST00000380502.3	37	c.222	CCDS6489.1	9	.	.	.	.	.	.	.	.	.	.	G	25.9	4.685642	0.88639	.	.	ENSG00000147874	ENST00000380502	T	0.38560	1.13	5.16	5.16	0.70880	.	0.048024	0.85682	D	0.000000	T	0.64068	0.2565	M	0.69248	2.105	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.65434	-0.6169	10	0.56958	D	0.05	-2.525	17.5794	0.87962	0.0:0.0:1.0:0.0	.	74	Q7Z4H7	HAUS6_HUMAN	L	74	ENSP00000369871:F74L	ENSP00000369871:F74L	F	-	3	2	HAUS6	19086674	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.796000	0.55507	2.557000	0.86248	0.585000	0.79938	TTC	HAUS6	-	NULL	ENSG00000147874		0.313	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAUS6	HGNC	protein_coding	OTTHUMT00000051825.1	91	0.00	0	G	NM_017645		19096674	19096674	-1	no_errors	ENST00000380502	ensembl	human	known	69_37n	missense	50	35.06	27	SNP	1.000	C
HBEGF	1839	genome.wustl.edu	37	5	139722246	139722246	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:139722246C>T	ENST00000230990.6	-	3	674	c.372G>A	c.(370-372)gtG>gtA	p.V124V	HBEGF_ENST00000507104.1_Silent_p.V124V	NM_001945.2	NP_001936.1	Q99075	HBEGF_HUMAN	heparin-binding EGF-like growth factor	124	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)|muscle organ development (GO:0007517)|negative regulation of elastin biosynthetic process (GO:0051545)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of wound healing (GO:0090303)|regulation of heart contraction (GO:0008016)|signal transduction (GO:0007165)|wound healing, spreading of epidermal cells (GO:0035313)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)	7			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGCTCCTTCACATATTTGC	0.522																																						dbGAP											0													229.0	226.0	227.0					5																	139722246		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS4223.1	5q23	2012-10-02	2005-01-14	2005-01-14	ENSG00000113070	ENSG00000113070			3059	protein-coding gene	gene with protein product	"""Diphtheria toxin receptor (heparin-binding EGF-like growth factor)"", ""heparin-binding epidermal growth factor"""	126150	"""diphtheria toxin receptor (heparin-binding epidermal growth factor-like growth factor)"""	HEGFL, DTS, DTR		7590736, 12163414	Standard	NM_001945		Approved		uc003lfi.3	Q99075	OTTHUMG00000129496	ENST00000230990.6:c.372G>A	5.37:g.139722246C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R821	Silent	SNP	pfscan_EG-like_dom	p.V124	ENST00000230990.6	37	c.372	CCDS4223.1	5																																																																																			HBEGF	-	pfscan_EG-like_dom	ENSG00000113070		0.522	HBEGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HBEGF	HGNC	protein_coding	OTTHUMT00000251665.2	98	0.00	0	C	NM_001945		139722246	139722246	-1	no_errors	ENST00000230990	ensembl	human	known	69_37n	silent	75	22.68	22	SNP	1.000	T
HBS1L	10767	genome.wustl.edu	37	6	135308808	135308808	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:135308808G>A	ENST00000367837.5	-	9	1411	c.1205C>T	c.(1204-1206)gCa>gTa	p.A402V	HBS1L_ENST00000367824.4_Missense_Mutation_p.A238V|HBS1L_ENST00000367826.2_Missense_Mutation_p.A360V|HBS1L_ENST00000415177.2_Missense_Mutation_p.A337V|HBS1L_ENST00000527578.1_Missense_Mutation_p.A238V|HBS1L_ENST00000445176.2_Missense_Mutation_p.A126V	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like translational GTPase	402	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				signal transduction (GO:0007165)|translation (GO:0006412)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		AACTGCAACTGCAAGCTGCGT	0.428																																						dbGAP											0													129.0	125.0	126.0					6																	135308808		2203	4300	6503	-	-	-	SO:0001583	missense	0			U87791	CCDS5173.1, CCDS47479.1, CCDS47480.1	6q23.3	2014-04-30	2014-04-30		ENSG00000112339	ENSG00000112339			4834	protein-coding gene	gene with protein product	"""eRF3 family member"""	612450	"""HBS1 (S. cerevisiae)-like"", ""HBS1-like (S. cerevisiae)"""			9872408, 23667253	Standard	NM_006620		Approved	ERFS, HBS1, HSPC276, KIAA1038, DKFZp434g247, EF-1a, eRF3c	uc003qez.2	Q9Y450	OTTHUMG00000015626	ENST00000367837.5:c.1205C>T	6.37:g.135308808G>A	ENSP00000356811:p.Ala402Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z365|Q4VX89|Q4VX90|Q5T7G3|Q8NDW9|Q9UPW3	Nonsense_Mutation	SNP	pfam_ProtSyn_GTP-bd,superfamily_Transl_elong_init/rib_B-barrel	p.Q26*	ENST00000367837.5	37	c.76	CCDS5173.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.441945|5.441945	0.96187|0.96187	.|.	.|.	ENSG00000112339|ENSG00000112339	ENST00000367837;ENST00000527578;ENST00000415177;ENST00000367826;ENST00000367824;ENST00000533274;ENST00000445176;ENST00000529641|ENST00000529169	T;T;T;T;T;T;T;T|.	0.64618|.	-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11|.	5.79|5.79	5.79|5.79	0.91817|0.91817	Protein synthesis factor, GTP-binding (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.23451|.	0.0567|.	N|N	0.02708|0.02708	-0.52|-0.52	0.80722|0.80722	D|D	1|1	P;P|.	0.44816|.	0.725;0.844|.	P;P|.	0.49561|.	0.481;0.615|.	T|.	0.28964|.	-1.0027|.	10|.	0.40728|.	T|.	0.16|.	-17.6641|-17.6641	20.0424|20.0424	0.97595|0.97595	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	360;402|.	Q9Y450-4;Q9Y450|.	.;HBS1L_HUMAN|.	V|X	402;238;337;360;238;272;126;238|26	ENSP00000356811:A402V;ENSP00000436256:A238V;ENSP00000389826:A337V;ENSP00000356800:A360V;ENSP00000356798:A238V;ENSP00000434533:A272V;ENSP00000415305:A126V;ENSP00000436620:A238V|.	ENSP00000356798:A238V|.	A|Q	-|-	2|1	0|0	HBS1L|HBS1L	135350501|135350501	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.848000|0.848000	0.48234|0.48234	6.805000|6.805000	0.75191|0.75191	2.725000|2.725000	0.93324|0.93324	0.557000|0.557000	0.71058|0.71058	GCA|CAG	HBS1L	-	pfam_ProtSyn_GTP-bd	ENSG00000112339		0.428	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HBS1L	HGNC	protein_coding	OTTHUMT00000042339.2	69	0.00	0	G			135308808	135308808	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000529169	ensembl	human	putative	69_37n	nonsense	29	52.46	32	SNP	1.000	A
HCAR2	338442	genome.wustl.edu	37	12	123186991	123186991	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:123186991G>C	ENST00000328880.5	-	1	899	c.840C>G	c.(838-840)ctC>ctG	p.L280L	RP11-324E6.6_ENST00000543611.1_lincRNA|HCAR1_ENST00000356987.2_Intron	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	280					negative regulation of lipid catabolic process (GO:0050995)|neutrophil apoptotic process (GO:0001781)|positive regulation of adiponectin secretion (GO:0070165)|positive regulation of neutrophil apoptotic process (GO:0033031)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nicotinic acid receptor activity (GO:0070553)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Niacin(DB00627)	AGGTGAAGCTGAGAGTGATAA	0.552																																						dbGAP											0													40.0	34.0	36.0					12																	123186991		2202	4276	6478	-	-	-	SO:0001819	synonymous_variant	0			AY148884	CCDS9235.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000182782	ENSG00000182782		"""GPCR / Class A : Hydroxy-carboxylic acid receptors"""	24827	protein-coding gene	gene with protein product	"""niacin receptor 1"""	609163	"""G protein-coupled receptor 109A"""	GPR109A		21167710, 12522134, 12646212, 19141678, 18983141, 21454438	Standard	NM_177551		Approved	HCA2, HM74A, PUMAG, Puma-g, NIACR1	uc001ucx.1	Q8TDS4	OTTHUMG00000162722	ENST00000328880.5:c.840C>G	12.37:g.123186991G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJL5|A7LGG3	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor	p.L280	ENST00000328880.5	37	c.840	CCDS9235.1	12																																																																																			HCAR2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000182782		0.552	HCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCAR2	HGNC	protein_coding	OTTHUMT00000370202.1	139	0.00	0	G	NM_177551		123186991	123186991	-1	no_errors	ENST00000328880	ensembl	human	known	69_37n	silent	169	12.82	25	SNP	0.997	C
HCAR2	338442	genome.wustl.edu	37	12	123187336	123187336	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:123187336C>T	ENST00000328880.5	-	1	554	c.495G>A	c.(493-495)aaG>aaA	p.K165K	RP11-324E6.6_ENST00000543611.1_lincRNA|HCAR1_ENST00000356987.2_Intron	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	165					negative regulation of lipid catabolic process (GO:0050995)|neutrophil apoptotic process (GO:0001781)|positive regulation of adiponectin secretion (GO:0070165)|positive regulation of neutrophil apoptotic process (GO:0033031)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nicotinic acid receptor activity (GO:0070553)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Niacin(DB00627)	TCGGCATCTTCTTCTTCAGGA	0.542																																						dbGAP											0													107.0	93.0	98.0					12																	123187336		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY148884	CCDS9235.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000182782	ENSG00000182782		"""GPCR / Class A : Hydroxy-carboxylic acid receptors"""	24827	protein-coding gene	gene with protein product	"""niacin receptor 1"""	609163	"""G protein-coupled receptor 109A"""	GPR109A		21167710, 12522134, 12646212, 19141678, 18983141, 21454438	Standard	NM_177551		Approved	HCA2, HM74A, PUMAG, Puma-g, NIACR1	uc001ucx.1	Q8TDS4	OTTHUMG00000162722	ENST00000328880.5:c.495G>A	12.37:g.123187336C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJL5|A7LGG3	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor	p.K165	ENST00000328880.5	37	c.495	CCDS9235.1	12																																																																																			HCAR2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000182782		0.542	HCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCAR2	HGNC	protein_coding	OTTHUMT00000370202.1	72	0.00	0	C	NM_177551		123187336	123187336	-1	no_errors	ENST00000328880	ensembl	human	known	69_37n	silent	111	14.62	19	SNP	0.000	T
HCFC1R1	54985	genome.wustl.edu	37	16	3073236	3073236	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:3073236G>C	ENST00000248089.3	-	3	583	c.279C>G	c.(277-279)ctC>ctG	p.L93L	HCFC1R1_ENST00000574151.1_Silent_p.L74L|HCFC1R1_ENST00000572355.1_Silent_p.L53L|HCFC1R1_ENST00000396916.1_Silent_p.L93L|HCFC1R1_ENST00000574980.1_Silent_p.L93L|THOC6_ENST00000574549.1_5'Flank|THOC6_ENST00000575576.1_5'Flank|HCFC1R1_ENST00000354679.3_Silent_p.L91L|THOC6_ENST00000326266.8_5'Flank|THOC6_ENST00000253952.9_5'Flank	NM_017885.2	NP_060355.1	Q9NWW0	HPIP_HUMAN	host cell factor C1 regulator 1 (XPO1 dependent)	93						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|large_intestine(1)|upper_aerodigestive_tract(1)	3						GAACCTACCTGAGTGGGGGCA	0.602																																						dbGAP											0													37.0	42.0	41.0					16																	3073236		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			AK000575	CCDS10490.1, CCDS32375.1, CCDS73815.1	16p13.3	2008-02-05	2005-12-01			ENSG00000103145			21198	protein-coding gene	gene with protein product			"""host cell factor C1 regulator 1 (XPO1 dependant)"""			12235138	Standard	NM_001002018		Approved	HPIP, FLJ20568	uc002csy.1	Q9NWW0		ENST00000248089.3:c.279C>G	16.37:g.3073236G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DUA7|Q68EN7	Missense_Mutation	SNP	NULL	p.Q87E	ENST00000248089.3	37	c.259	CCDS10490.1	16																																																																																			HCFC1R1	-	NULL	ENSG00000103145		0.602	HCFC1R1-001	KNOWN	basic|CCDS	protein_coding	HCFC1R1	HGNC	protein_coding	OTTHUMT00000436969.1	28	0.00	0	G	NM_017885		3073236	3073236	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000576321	ensembl	human	putative	69_37n	missense	47	17.54	10	SNP	0.994	C
HCFC1R1	54985	genome.wustl.edu	37	16	3073917	3073917	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:3073917C>T	ENST00000248089.3	-	1	330	c.26G>A	c.(25-27)cGa>cAa	p.R9Q	HCFC1R1_ENST00000574151.1_Missense_Mutation_p.R9Q|HCFC1R1_ENST00000572355.1_Intron|HCFC1R1_ENST00000396916.1_Missense_Mutation_p.R9Q|HCFC1R1_ENST00000574980.1_Missense_Mutation_p.R9Q|THOC6_ENST00000574549.1_5'Flank|THOC6_ENST00000575576.1_5'Flank|HCFC1R1_ENST00000354679.3_Missense_Mutation_p.R9Q|THOC6_ENST00000326266.8_5'Flank|THOC6_ENST00000253952.9_5'Flank	NM_017885.2	NP_060355.1	Q9NWW0	HPIP_HUMAN	host cell factor C1 regulator 1 (XPO1 dependent)	9						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|large_intestine(1)|upper_aerodigestive_tract(1)	3						CTGGGGGCCTCGCTGCAAGGG	0.706																																						dbGAP											0													9.0	11.0	11.0					16																	3073917		2139	4210	6349	-	-	-	SO:0001583	missense	0			AK000575	CCDS10490.1, CCDS32375.1, CCDS73815.1	16p13.3	2008-02-05	2005-12-01			ENSG00000103145			21198	protein-coding gene	gene with protein product			"""host cell factor C1 regulator 1 (XPO1 dependant)"""			12235138	Standard	NM_001002018		Approved	HPIP, FLJ20568	uc002csy.1	Q9NWW0		ENST00000248089.3:c.26G>A	16.37:g.3073917C>T	ENSP00000248089:p.Arg9Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DUA7|Q68EN7	Missense_Mutation	SNP	NULL	p.R9Q	ENST00000248089.3	37	c.26	CCDS10490.1	16	.	.	.	.	.	.	.	.	.	.	C	15.84	2.950640	0.53186	.	.	ENSG00000103145	ENST00000248089;ENST00000354679;ENST00000396916	T;T;T	0.57595	0.39;0.39;0.39	4.96	2.88	0.33553	.	0.180917	0.27358	N	0.019736	T	0.32556	0.0833	N	0.24115	0.695	0.34390	D	0.694064	P;P	0.34462	0.454;0.454	B;B	0.31101	0.071;0.124	T	0.45629	-0.9248	10	0.49607	T	0.09	-2.4623	6.697	0.23205	0.1755:0.7277:0.0:0.0968	.	9;9	Q9NWW0-2;Q9NWW0	.;HPIP_HUMAN	Q	9	ENSP00000248089:R9Q;ENSP00000346708:R9Q;ENSP00000380123:R9Q	ENSP00000248089:R9Q	R	-	2	0	HCFC1R1	3013918	0.321000	0.24625	0.949000	0.38748	0.231000	0.25187	0.560000	0.23500	1.232000	0.43678	-0.136000	0.14681	CGA	HCFC1R1	-	NULL	ENSG00000103145		0.706	HCFC1R1-001	KNOWN	basic|CCDS	protein_coding	HCFC1R1	HGNC	protein_coding	OTTHUMT00000436969.1	25	0.00	0	C	NM_017885		3073917	3073917	-1	no_errors	ENST00000248089	ensembl	human	known	69_37n	missense	32	27.27	12	SNP	0.820	T
HCFC2	29915	genome.wustl.edu	37	12	104480763	104480763	+	Nonsense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:104480763C>G	ENST00000229330.4	+	8	1306	c.1202C>G	c.(1201-1203)tCa>tGa	p.S401*		NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	401	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						GCTGCATCATCAGATTCTTCA	0.428																																					Esophageal Squamous(184;1814 2036 4771 6974 15702)	dbGAP											0													107.0	96.0	100.0					12																	104480763		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF117210	CCDS9097.1	12q23.3	2011-03-30			ENSG00000111727	ENSG00000111727			24972	protein-coding gene	gene with protein product		607926				10196288	Standard	NM_013320		Approved	HCF-2	uc001tkj.4	Q9Y5Z7	OTTHUMG00000170175	ENST00000229330.4:c.1202C>G	12.37:g.104480763C>G	ENSP00000229330:p.Ser401*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8Q5|C0H5X3	Nonsense_Mutation	SNP	pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.S401*	ENST00000229330.4	37	c.1202	CCDS9097.1	12	.	.	.	.	.	.	.	.	.	.	C	37	6.461355	0.97585	.	.	ENSG00000111727	ENST00000229330	.	.	.	5.43	4.51	0.55191	.	0.969624	0.08465	N	0.941889	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	0.0027	11.8867	0.52606	0.0:0.9107:0.0:0.0893	.	.	.	.	X	401	.	ENSP00000229330:S401X	S	+	2	0	HCFC2	103004893	0.037000	0.19845	0.314000	0.25224	0.925000	0.55904	1.615000	0.36922	1.201000	0.43203	0.650000	0.86243	TCA	HCFC2	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3	ENSG00000111727		0.428	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCFC2	HGNC	protein_coding	OTTHUMT00000407780.1	92	0.00	0	C	NM_013320		104480763	104480763	+1	no_errors	ENST00000229330	ensembl	human	known	69_37n	nonsense	63	39.42	41	SNP	0.707	G
HCN1	348980	genome.wustl.edu	37	5	45353208	45353208	+	Silent	SNP	C	C	G	rs561869170		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:45353208C>G	ENST00000303230.4	-	5	1428	c.1371G>C	c.(1369-1371)ctG>ctC	p.L457L		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	457					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.L457L(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TTACCTCTCTCAGAGGATCAT	0.343													C|||	1	0.000199681	0.0	0.0	5008	,	,		17524	0.0		0.0	False		,,,				2504	0.001					dbGAP											1	Substitution - coding silent(1)	lung(1)											107.0	99.0	102.0					5																	45353208		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1371G>C	5.37:g.45353208C>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.L457	ENST00000303230.4	37	c.1371	CCDS3952.1	5																																																																																			HCN1	-	superfamily_cNMP-bd-like	ENSG00000164588		0.343	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN1	HGNC	protein_coding	OTTHUMT00000253847.1	129	0.00	0	C	NM_021072		45353208	45353208	-1	no_errors	ENST00000303230	ensembl	human	known	69_37n	silent	74	24.49	24	SNP	1.000	G
HCN2	610	genome.wustl.edu	37	19	603700	603700	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:603700C>T	ENST00000251287.2	+	2	842	c.789C>T	c.(787-789)ttC>ttT	p.F263F		NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	263					cell-cell signaling (GO:0007267)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	cAMP binding (GO:0030552)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|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;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		TGTTGAACTTCCGCACCGGCA	0.547																																					Melanoma(145;1175 2427 8056 36306)	dbGAP											0													129.0	113.0	118.0					19																	603700		2200	4297	6497	-	-	-	SO:0001819	synonymous_variant	0			AF064877	CCDS12035.1	19p13	2011-07-05				ENSG00000099822		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4846	protein-coding gene	gene with protein product		602781		BCNG2		9405696, 9630217, 16382102	Standard	NM_001194		Approved	BCNG-2, HAC-1	uc002lpe.3	Q9UL51		ENST00000251287.2:c.789C>T	19.37:g.603700C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O60742|O60743|O75267|Q9UBS2	Silent	SNP	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.F263	ENST00000251287.2	37	c.789	CCDS12035.1	19																																																																																			HCN2	-	pfam_Ion_trans_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	ENSG00000099822		0.547	HCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN2	HGNC	protein_coding	OTTHUMT00000452100.1	80	0.00	0	C	NM_001194		603700	603700	+1	no_errors	ENST00000251287	ensembl	human	known	69_37n	silent	77	25.24	26	SNP	1.000	T
HDAC6	10013	genome.wustl.edu	37	X	48681410	48681410	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:48681410G>A	ENST00000334136.5	+	25	2779	c.2601G>A	c.(2599-2601)atG>atA	p.M867I	HDAC6_ENST00000444343.2_Missense_Mutation_p.M881I|HDAC6_ENST00000376619.2_Missense_Mutation_p.M867I			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	867					aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	CTGAGCGGATGACCACACGAG	0.537																																					Pancreas(112;205 1675 2305 8976 15959)	dbGAP											0													74.0	61.0	66.0					X																	48681410		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 90"""	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.2601G>A	X.37:g.48681410G>A	ENSP00000334061:p.Met867Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	O94975|Q6NT75|Q7L3E5|Q96CY0	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,prints_His_deacetylse	p.M881I	ENST00000334136.5	37	c.2643	CCDS14306.1	X	.	.	.	.	.	.	.	.	.	.	G	5.499	0.277002	0.10403	.	.	ENSG00000094631	ENST00000444343;ENST00000334136;ENST00000376619	T;T;T	0.57436	0.4;0.4;0.4	5.25	2.53	0.30540	.	1.375010	0.04125	N	0.317038	T	0.37919	0.1021	L	0.27053	0.805	0.09310	N	0.999999	B;B;B;B	0.32365	0.008;0.367;0.008;0.008	B;B;B;B	0.23574	0.004;0.047;0.004;0.004	T	0.20207	-1.0282	10	0.22109	T	0.4	-2.4468	8.1996	0.31417	0.2664:0.0:0.7336:0.0	.	857;230;515;867	B4DZN1;B3KY98;B3KVK5;Q9UBN7	.;.;.;HDAC6_HUMAN	I	881;867;867	ENSP00000398566:M881I;ENSP00000334061:M867I;ENSP00000365804:M867I	ENSP00000334061:M867I	M	+	3	0	HDAC6	48566354	0.015000	0.18098	0.001000	0.08648	0.016000	0.09150	1.486000	0.35530	0.287000	0.22375	0.600000	0.82982	ATG	HDAC6	-	NULL	ENSG00000094631		0.537	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HDAC6	HGNC	protein_coding	OTTHUMT00000083394.2	52	0.00	0	G	NM_006044		48681410	48681410	+1	no_errors	ENST00000444343	ensembl	human	known	69_37n	missense	43	18.87	10	SNP	0.003	A
HDAC7	51564	genome.wustl.edu	37	12	48190855	48190855	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:48190855G>C	ENST00000427332.2	-	7	687	c.531C>G	c.(529-531)ctC>ctG	p.L177L	HDAC7_ENST00000354334.3_Silent_p.L216L|HDAC7_ENST00000552960.1_Silent_p.L199L|HDAC7_ENST00000380610.4_Silent_p.L233L|HDAC7_ENST00000080059.7_Silent_p.L216L			Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	177	Transcription repression 1. {ECO:0000250}.				cell-cell junction assembly (GO:0007043)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		TCTCCTTTCGGAGCAGTGGAT	0.662																																						dbGAP											0													62.0	62.0	62.0					12																	48190855		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF239243	CCDS8756.2, CCDS41776.1	12q13.1	2008-02-25	2008-02-25	2008-02-25	ENSG00000061273	ENSG00000061273			14067	protein-coding gene	gene with protein product		606542	"""histone deacetylase 7A"""	HDAC7A		10922406, 10640276	Standard	NM_015401		Approved	DKFZP586J0917	uc010slo.2	Q8WUI4	OTTHUMG00000152968	ENST00000427332.2:c.531C>G	12.37:g.48190855G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KY08|B4DWI0|B4E0Q5|Q6P1W9|Q6W9G7|Q7Z4K2|Q7Z5I1|Q96K01|Q9BR73|Q9H7L0|Q9NW41|Q9NWA9|Q9NYK9|Q9UFU7	Silent	SNP	pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.L233	ENST00000427332.2	37	c.699		12																																																																																			HDAC7	-	pirsf_Histone_deAcase_II_euk	ENSG00000061273		0.662	HDAC7-013	NOVEL	basic|appris_principal	protein_coding	HDAC7	HGNC	protein_coding	OTTHUMT00000328804.2	32	0.00	0	G			48190855	48190855	-1	no_errors	ENST00000380610	ensembl	human	known	69_37n	silent	23	61.67	37	SNP	0.824	C
HDAC8	55869	genome.wustl.edu	37	X	71684452	71684452	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:71684452C>T	ENST00000373573.3	-	8	1208	c.867G>A	c.(865-867)aaG>aaA	p.K289K	HDAC8_ENST00000373589.4_Silent_p.K198K|HDAC8_ENST00000429103.2_Silent_p.K94K|HDAC8_ENST00000373583.1_Intron	NM_018486.2	NP_060956.1	Q9BY41	HDAC8_HUMAN	histone deacetylase 8	289	Histone deacetylase.				chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cohesin localization to chromatin (GO:0071922)|sister chromatid cohesion (GO:0007062)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|transcription factor binding (GO:0008134)			breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1)	10	Renal(35;0.156)				Vorinostat(DB02546)	GAAGGATGTACTTAAGACACT	0.458																																						dbGAP											0													166.0	138.0	147.0					X																	71684452		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF230097	CCDS14420.1, CCDS55448.1, CCDS55449.1, CCDS55450.1, CCDS55451.1, CCDS55452.1	Xq13	2014-01-29	2002-09-02	2002-09-06	ENSG00000147099	ENSG00000147099			13315	protein-coding gene	gene with protein product		300269	"""histone deacetylase-like 1"", ""Wilson-Turner X-linked mental retardation syndrome"""	HDACL1, WTS, MRXS6		10756090, 10922473, 22889856	Standard	NM_001166448		Approved	RPD3	uc004eau.3	Q9BY41	OTTHUMG00000021814	ENST00000373573.3:c.867G>A	X.37:g.71684452C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6ND12|A6ND61|A6NET3|A6NJR3|A8MQ62|B4DKN0|B4DV22|Q86VC8|Q9NP76|Q9NYH4	Silent	SNP	pfam_His_deacetylse_dom,pirsf_His_deacetylse_1,prints_His_deacetylse_1,prints_His_deacetylse	p.K289	ENST00000373573.3	37	c.867	CCDS14420.1	X																																																																																			HDAC8	-	pfam_His_deacetylse_dom,pirsf_His_deacetylse_1	ENSG00000147099		0.458	HDAC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC8	HGNC	protein_coding	OTTHUMT00000057193.2	77	0.00	0	C	NM_018486		71684452	71684452	-1	no_errors	ENST00000373573	ensembl	human	known	69_37n	silent	70	29.29	29	SNP	0.963	T
HDAC9	9734	genome.wustl.edu	37	7	18705919	18705919	+	Silent	SNP	G	G	C	rs370092099		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:18705919G>C	ENST00000432645.2	+	11	1542	c.1542G>C	c.(1540-1542)gcG>gcC	p.A514A	HDAC9_ENST00000406451.4_Silent_p.A514A|HDAC9_ENST00000456174.2_Silent_p.A486A|HDAC9_ENST00000428307.2_Silent_p.A470A|HDAC9_ENST00000401921.1_Silent_p.A473A|HDAC9_ENST00000524023.1_Silent_p.A437A|HDAC9_ENST00000405010.3_Silent_p.A514A|HDAC9_ENST00000417496.2_Silent_p.A512A|HDAC9_ENST00000406072.1_Silent_p.A501A|HDAC9_ENST00000441542.2_Silent_p.A517A	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	514					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.A517A(6)|p.A512A(2)|p.A514A(2)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GGGACCAGGCGATGCAGGAAG	0.532											OREG0017877	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											10	Substitution - coding silent(10)	lung(8)|upper_aerodigestive_tract(2)											118.0	129.0	125.0					7																	18705919		2042	4185	6227	-	-	-	SO:0001819	synonymous_variant	0			AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.1542G>C	7.37:g.18705919G>C		Somatic	727	WXS	Illumina GAIIx	Phase_IV	A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Silent	SNP	pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.A517	ENST00000432645.2	37	c.1551	CCDS47555.1	7																																																																																			HDAC9	-	pirsf_Histone_deAcase_II_euk	ENSG00000048052		0.532	HDAC9-023	KNOWN	basic|CCDS	protein_coding	HDAC9	HGNC	protein_coding	OTTHUMT00000376176.1	61	0.00	0	G			18705919	18705919	+1	no_errors	ENST00000441542	ensembl	human	known	69_37n	silent	66	21.43	18	SNP	0.031	C
HDX	139324	genome.wustl.edu	37	X	83723725	83723725	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:83723725C>G	ENST00000297977.5	-	3	1117	c.1006G>C	c.(1006-1008)Gag>Cag	p.E336Q	HDX_ENST00000373177.2_Missense_Mutation_p.E336Q|HDX_ENST00000506585.2_Missense_Mutation_p.E278Q	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	336						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						CTTTGGTTCTCAGCTCGAAGG	0.428																																					Pancreas(53;231 1169 36156 43751 51139)	dbGAP											0													94.0	77.0	83.0					X																	83723725		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"""Homeoboxes / POU class"""	26411	protein-coding gene	gene with protein product			"""chromosome X open reading frame 43"""	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.1006G>C	X.37:g.83723725C>G	ENSP00000297977:p.Glu336Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.E336Q	ENST00000297977.5	37	c.1006	CCDS35342.1	X	.	.	.	.	.	.	.	.	.	.	C	12.72	2.023121	0.35701	.	.	ENSG00000165259	ENST00000297977;ENST00000373177;ENST00000506585	T;T;T	0.36520	1.29;1.25;1.29	5.53	5.53	0.82687	.	0.461581	0.23239	N	0.050370	T	0.37544	0.1007	L	0.56769	1.78	0.39738	D	0.971715	B	0.17852	0.024	B	0.15052	0.012	T	0.20273	-1.0280	10	0.46703	T	0.11	-16.0033	14.8	0.69906	0.0:0.8594:0.1406:0.0	.	336	Q7Z353	HDX_HUMAN	Q	336;278;336	ENSP00000297977:E336Q;ENSP00000362272:E278Q;ENSP00000423670:E336Q	ENSP00000297977:E336Q	E	-	1	0	HDX	83610381	0.999000	0.42202	1.000000	0.80357	0.972000	0.66771	3.512000	0.53407	2.316000	0.78162	0.422000	0.28245	GAG	HDX	-	NULL	ENSG00000165259		0.428	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HDX	HGNC	protein_coding	OTTHUMT00000057379.2	97	0.00	0	C	NM_144657		83723725	83723725	-1	no_errors	ENST00000297977	ensembl	human	known	69_37n	missense	89	18.35	20	SNP	0.993	G
HEATR3	55027	genome.wustl.edu	37	16	50138963	50138963	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:50138963G>A	ENST00000299192.7	+	15	2225	c.2034G>A	c.(2032-2034)ctG>ctA	p.L678L	HEATR3_ENST00000285767.4_Silent_p.L592L|RP11-429P3.5_ENST00000566770.1_RNA	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	678										cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						AGAAAAGACTGACTTCTTAAA	0.333																																						dbGAP											0													97.0	102.0	100.0					16																	50138963		2198	4299	6497	-	-	-	SO:0001819	synonymous_variant	0			BC018730	CCDS10739.1	16q12.1	2008-02-05			ENSG00000155393	ENSG00000155393			26087	protein-coding gene	gene with protein product		614951				12477932	Standard	XM_005256013		Approved	FLJ20718	uc002efw.3	Q7Z4Q2	OTTHUMG00000133174	ENST00000299192.7:c.2034G>A	16.37:g.50138963G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1N4|Q8N525|Q8WV56|Q96CC9|Q9NWN7	Silent	SNP	superfamily_ARM-type_fold	p.L678	ENST00000299192.7	37	c.2034	CCDS10739.1	16																																																																																			HEATR3	-	NULL	ENSG00000155393		0.333	HEATR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR3	HGNC	protein_coding	OTTHUMT00000256880.2	108	0.00	0	G	NM_182922		50138963	50138963	+1	no_errors	ENST00000299192	ensembl	human	known	69_37n	silent	46	23.33	14	SNP	0.990	A
HEATR5A	25938	genome.wustl.edu	37	14	31852862	31852862	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:31852862G>A	ENST00000389961.3	-	9	1442	c.1443C>T	c.(1441-1443)ctC>ctT	p.L481L	HEATR5A_ENST00000439348.1_Silent_p.L481L|HEATR5A_ENST00000439727.1_Silent_p.L194L|HEATR5A_ENST00000404677.3_Silent_p.L487L|HEATR5A_ENST00000543095.2_Silent_p.L487L			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	481										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		AACGATCCAAGAGTGGTGTTA	0.468																																						dbGAP											0													188.0	177.0	181.0					14																	31852862		1980	4185	6165	-	-	-	SO:0001819	synonymous_variant	0			AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 125"""	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.1443C>T	14.37:g.31852862G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.S115F	ENST00000389961.3	37	c.344		14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.127|9.127	1.010401|1.010401	0.19277|0.19277	.|.	.|.	ENSG00000129493|ENSG00000129493	ENST00000550366|ENST00000538864	T|.	0.65549|.	-0.16|.	5.89|5.89	1.31|1.31	0.21738|0.21738	.|.	0.144234|.	0.47455|.	D|.	0.000238|.	T|T	0.40247|0.40247	0.1109|0.1109	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.26360|0.26360	-1.0105|-1.0105	6|4	.|.	.|.	.|.	.|.	0.1576|0.1576	0.00100|0.00100	0.3402:0.1553:0.2267:0.2777|0.3402:0.1553:0.2267:0.2777	.|.	.|.	.|.	.|.	F|F	130|115	ENSP00000450296:L130F|.	.|.	L|S	-|-	1|2	0|0	HEATR5A|HEATR5A	30922613|30922613	0.957000|0.957000	0.32711|0.32711	0.996000|0.996000	0.52242|0.52242	0.879000|0.879000	0.50718|0.50718	0.170000|0.170000	0.16663|0.16663	0.339000|0.339000	0.23719|0.23719	0.557000|0.557000	0.71058|0.71058	CTT|TCT	HEATR5A	-	superfamily_ARM-type_fold	ENSG00000129493		0.468	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	HEATR5A	HGNC	protein_coding		67	0.00	0	G	NM_015473		31852862	31852862	-1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000538864	ensembl	human	novel	69_37n	missense	27	54.24	32	SNP	1.000	A
MROH1	727957	genome.wustl.edu	37	8	145245805	145245805	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:145245805C>G	ENST00000528919.1	+	7	802	c.681C>G	c.(679-681)ctC>ctG	p.L227L	MROH1_ENST00000398656.4_Silent_p.L227L|MROH1_ENST00000326134.5_Silent_p.L227L|MROH1_ENST00000423230.2_Silent_p.L227L|MROH1_ENST00000534366.1_Silent_p.L227L	NM_032450.2	NP_115826	Q8NDA8	MROH1_HUMAN	maestro heat-like repeat family member 1	227																	ACGATGTTCTCTTCCATCAGT	0.622																																						dbGAP											0													56.0	60.0	59.0					8																	145245805		2057	4203	6260	-	-	-	SO:0001819	synonymous_variant	0				CCDS47938.1, CCDS47939.1, CCDS75803.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000179832	ENSG00000179832		"""maestro heat-like repeat containing"""	26958	protein-coding gene	gene with protein product			"""HEAT repeat containing 7A"""	HEATR7A		11347906	Standard	NM_032450		Approved	KIAA1833	uc003zbk.4	Q8NDA8	OTTHUMG00000165781	ENST00000528919.1:c.681C>G	8.37:g.145245805C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JWM5|D3DWL5|Q0P612|Q569G6|Q6NVW4|Q8N230|Q8NAD1|Q8ND95|Q96JJ4	Silent	SNP	pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.L227	ENST00000528919.1	37	c.681	CCDS47938.1	8																																																																																			HEATR7A	-	superfamily_ARM-type_fold	ENSG00000179832		0.622	MROH1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HEATR7A	HGNC	protein_coding	OTTHUMT00000386183.1	27	0.00	0	C	NM_032450		145245805	145245805	+1	no_errors	ENST00000326134	ensembl	human	known	69_37n	silent	51	15.00	9	SNP	0.991	G
MROH2B	133558	genome.wustl.edu	37	5	41067250	41067250	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:41067250C>T	ENST00000399564.4	-	3	611	c.161G>A	c.(160-162)cGa>cAa	p.R54Q		NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	54																	ATAAATCAATCGTTGGACAAT	0.373																																						dbGAP											0													66.0	59.0	61.0					5																	41067250		1877	4085	5962	-	-	-	SO:0001583	missense	0				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.161G>A	5.37:g.41067250C>T	ENSP00000382476:p.Arg54Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.R54Q	ENST00000399564.4	37	c.161	CCDS47202.1	5	.	.	.	.	.	.	.	.	.	.	C	13.54	2.267255	0.40095	.	.	ENSG00000171495	ENST00000399564	T	0.06933	3.24	6.17	0.38	0.16222	Armadillo-type fold (1);	0.827701	0.10419	N	0.676957	T	0.11067	0.0270	M	0.68593	2.085	0.09310	N	1	B	0.15719	0.014	B	0.14023	0.01	T	0.28586	-1.0039	10	0.36615	T	0.2	.	10.413	0.44305	0.0:0.6408:0.0:0.3592	.	54	Q7Z745	HTRB2_HUMAN	Q	54	ENSP00000382476:R54Q	ENSP00000382476:R54Q	R	-	2	0	HEATR7B2	41103007	0.004000	0.15560	0.057000	0.19452	0.695000	0.40330	0.026000	0.13599	-0.221000	0.09973	-0.940000	0.02684	CGA	HEATR7B2	-	superfamily_ARM-type_fold	ENSG00000171495		0.373	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR7B2	HGNC	protein_coding	OTTHUMT00000367558.2	64	0.00	0	C	NM_173489		41067250	41067250	-1	no_errors	ENST00000399564	ensembl	human	known	69_37n	missense	53	10.17	6	SNP	0.011	T
HECTD4	283450	genome.wustl.edu	37	12	112621040	112621040	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:112621040G>A	ENST00000430131.2	-	61	10689	c.9544C>T	c.(9544-9546)Cga>Tga	p.R3182*	HECTD4_ENST00000550722.1_Nonsense_Mutation_p.R3458*|HECTD4_ENST00000377560.5_Nonsense_Mutation_p.R3432*			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3182				R -> Q (in Ref. 7; AAF36539). {ECO:0000305}.	glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										AAACTTGCTCGAATTTTCTCA	0.393																																						dbGAP											0													146.0	143.0	144.0					12																	112621040		1833	4094	5927	-	-	-	SO:0001587	stop_gained	0			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.9544C>T	12.37:g.112621040G>A	ENSP00000404379:p.Arg3182*	Somatic		WXS	Illumina GAIIx	Phase_IV	L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Nonsense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl,smart_HECT,pfscan_HECT	p.R3432*	ENST00000430131.2	37	c.10294		12	.	.	.	.	.	.	.	.	.	.	G	56	25.503121	0.99965	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	.	.	.	5.7	4.79	0.61399	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.6252	0.76851	0.0:0.0:0.8575:0.1425	.	.	.	.	X	3432;3182;3458	.	ENSP00000366783:R3432X	R	-	1	2	C12orf51	111105423	1.000000	0.71417	0.988000	0.46212	0.960000	0.62799	5.973000	0.70456	1.346000	0.45694	0.655000	0.94253	CGA	HECTD4	-	NULL	ENSG00000173064		0.393	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	HGNC	protein_coding		93	0.00	0	G	NM_173813		112621040	112621040	-1	no_errors	ENST00000377560	ensembl	human	known	69_37n	nonsense	104	17.19	22	SNP	1.000	A
HECTD4	283450	genome.wustl.edu	37	12	112666453	112666453	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:112666453C>G	ENST00000430131.2	-	41	6561	c.5416G>C	c.(5416-5418)Gag>Cag	p.E1806Q	HECTD4_ENST00000550722.1_Missense_Mutation_p.E2082Q|HECTD4_ENST00000377560.5_Missense_Mutation_p.E2056Q			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	1806					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										CACCTTACCTCTGATCTTGGA	0.403																																						dbGAP											0													115.0	110.0	111.0					12																	112666453		1898	4129	6027	-	-	-	SO:0001583	missense	0			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.5416G>C	12.37:g.112666453C>G	ENSP00000404379:p.Glu1806Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl,smart_HECT,pfscan_HECT	p.E2056Q	ENST00000430131.2	37	c.6166		12	.	.	.	.	.	.	.	.	.	.	C	34	5.408718	0.96072	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.52295	0.67;0.67;0.67	6.17	6.17	0.99709	.	.	.	.	.	T	0.57844	0.2081	N	0.24115	0.695	0.58432	D	0.999996	D	0.57899	0.981	D	0.67900	0.954	T	0.59440	-0.7454	9	0.87932	D	0	.	19.8676	0.96824	0.0:1.0:0.0:0.0	.	1806	Q9Y4D8	K0614_HUMAN	Q	2056;1806;2082	ENSP00000366783:E2056Q;ENSP00000404379:E1806Q;ENSP00000449784:E2082Q	ENSP00000366783:E2056Q	E	-	1	0	C12orf51	111150836	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.310000	0.78947	2.941000	0.99782	0.655000	0.94253	GAG	HECTD4	-	NULL	ENSG00000173064		0.403	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	HGNC	protein_coding		101	0.00	0	C	NM_173813		112666453	112666453	-1	no_errors	ENST00000377560	ensembl	human	known	69_37n	missense	106	15.87	20	SNP	1.000	G
HECTD4	283450	genome.wustl.edu	37	12	112685976	112685976	+	Splice_Site	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:112685976C>T	ENST00000430131.2	-	26	4023		c.e26-1		HECTD4_ENST00000550722.1_Splice_Site|HECTD4_ENST00000377560.5_Splice_Site			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4						glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										CTGCAACACTCTAATAAATAC	0.284																																						dbGAP											0													66.0	59.0	61.0					12																	112685976		1832	4083	5915	-	-	-	SO:0001630	splice_region_variant	0			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.2878-1G>A	12.37:g.112685976C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Splice_Site	SNP	-	e25-1	ENST00000430131.2	37	c.3628-1		12	.	.	.	.	.	.	.	.	.	.	C	23.9	4.471394	0.84533	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0341	0.97551	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C12orf51	111170359	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.236000	0.78154	2.753000	0.94483	0.555000	0.69702	.	HECTD4	-	-	ENSG00000173064		0.284	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	HGNC	protein_coding		120	0.00	0	C	NM_173813	Intron	112685976	112685976	-1	no_errors	ENST00000377560	ensembl	human	known	69_37n	splice_site	139	12.03	19	SNP	1.000	T
HECTD4	283450	genome.wustl.edu	37	12	112720942	112720942	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:112720942G>C	ENST00000430131.2	-	8	1463	c.318C>G	c.(316-318)atC>atG	p.I106M	HECTD4_ENST00000550722.1_Missense_Mutation_p.I356M|HECTD4_ENST00000377560.5_Missense_Mutation_p.I356M			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	106					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										GTGTGTTGGAGATGGTGGAAC	0.473																																						dbGAP											0													99.0	97.0	98.0					12																	112720942		2004	4174	6178	-	-	-	SO:0001583	missense	0			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.318C>G	12.37:g.112720942G>C	ENSP00000404379:p.Ile106Met	Somatic		WXS	Illumina GAIIx	Phase_IV	L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl,smart_HECT,pfscan_HECT	p.I356M	ENST00000430131.2	37	c.1068		12	.	.	.	.	.	.	.	.	.	.	G	17.85	3.491001	0.64074	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.49720	0.83;0.77;0.81	5.58	3.76	0.43208	.	.	.	.	.	T	0.45418	0.1341	N	0.08118	0	0.38395	D	0.945515	D	0.57571	0.98	D	0.66979	0.948	T	0.54523	-0.8281	9	0.72032	D	0.01	.	10.8503	0.46767	0.0676:0.0:0.8013:0.131	.	106	Q9Y4D8	K0614_HUMAN	M	356;106;356	ENSP00000366783:I356M;ENSP00000404379:I106M;ENSP00000449784:I356M	ENSP00000366783:I356M	I	-	3	3	C12orf51	111205325	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.333000	0.65917	0.741000	0.32674	-0.276000	0.10085	ATC	HECTD4	-	NULL	ENSG00000173064		0.473	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	HGNC	protein_coding		90	0.00	0	G	NM_173813		112720942	112720942	-1	no_errors	ENST00000377560	ensembl	human	known	69_37n	missense	80	15.62	15	SNP	1.000	C
HECW2	57520	genome.wustl.edu	37	2	197184224	197184224	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:197184224C>T	ENST00000260983.3	-	9	1572	c.1390G>A	c.(1390-1392)Gat>Aat	p.D464N	HECW2_ENST00000409111.1_Missense_Mutation_p.D108N	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	464					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TCATCTGAATCAATATGAAGC	0.532																																						dbGAP											0													52.0	50.0	50.0					2																	197184224		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.1390G>A	2.37:g.197184224C>T	ENSP00000260983:p.Asp464Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP	p.D464N	ENST00000260983.3	37	c.1390	CCDS33354.1	2	.	.	.	.	.	.	.	.	.	.	C	25.6	4.653936	0.88056	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.57107	0.42;0.75	5.5	5.5	0.81552	.	0.973486	0.08506	N	0.935658	T	0.62660	0.2446	N	0.19112	0.55	0.54753	D	0.999987	D	0.69078	0.997	D	0.77004	0.989	T	0.55366	-0.8152	10	0.34782	T	0.22	.	17.7634	0.88470	0.0:1.0:0.0:0.0	.	464	Q9P2P5	HECW2_HUMAN	N	108;464	ENSP00000386775:D108N;ENSP00000260983:D464N	ENSP00000260983:D464N	D	-	1	0	HECW2	196892469	1.000000	0.71417	0.950000	0.38849	0.790000	0.44656	6.814000	0.75236	2.868000	0.98415	0.555000	0.69702	GAT	HECW2	-	NULL	ENSG00000138411		0.532	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW2	HGNC	protein_coding	OTTHUMT00000335199.3	27	0.00	0	C	NM_020760		197184224	197184224	-1	no_errors	ENST00000260983	ensembl	human	known	69_37n	missense	50	19.35	12	SNP	1.000	T
HECW2	57520	genome.wustl.edu	37	2	197199240	197199240	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:197199240C>T	ENST00000260983.3	-	4	585	c.403G>A	c.(403-405)Gag>Aag	p.E135K	HECW2_ENST00000409111.1_5'UTR	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	135					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						ATTTTTATCTCCGCTGCAAAG	0.468																																						dbGAP											0													26.0	25.0	25.0					2																	197199240		2200	4300	6500	-	-	-	SO:0001583	missense	0			AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.403G>A	2.37:g.197199240C>T	ENSP00000260983:p.Glu135Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP	p.E135K	ENST00000260983.3	37	c.403	CCDS33354.1	2	.	.	.	.	.	.	.	.	.	.	C	35	5.515179	0.96402	.	.	ENSG00000138411	ENST00000260983	T	0.36520	1.25	5.84	5.84	0.93424	.	0.104741	0.64402	D	0.000004	T	0.63438	0.2511	M	0.74258	2.255	0.80722	D	1	D	0.63880	0.993	D	0.74023	0.982	T	0.64245	-0.6453	10	0.72032	D	0.01	.	20.1386	0.98045	0.0:1.0:0.0:0.0	.	135	Q9P2P5	HECW2_HUMAN	K	135	ENSP00000260983:E135K	ENSP00000260983:E135K	E	-	1	0	HECW2	196907485	1.000000	0.71417	1.000000	0.80357	0.797000	0.45037	7.794000	0.85869	2.767000	0.95098	0.561000	0.74099	GAG	HECW2	-	NULL	ENSG00000138411		0.468	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW2	HGNC	protein_coding	OTTHUMT00000335199.3	30	0.00	0	C	NM_020760		197199240	197199240	-1	no_errors	ENST00000260983	ensembl	human	known	69_37n	missense	31	18.42	7	SNP	1.000	T
HEG1	57493	genome.wustl.edu	37	3	124692596	124692596	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:124692596C>T	ENST00000311127.4	-	16	4042	c.3975G>A	c.(3973-3975)caG>caA	p.Q1325Q		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	1325					cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						CATCCGTCATCTGGAGGAGGT	0.478																																						dbGAP											0													104.0	103.0	103.0					3																	124692596		1882	4109	5991	-	-	-	SO:0001819	synonymous_variant	0			AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"""heart of glass"""	614182	"""HEG homolog 1 (zebrafish)"""			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.3975G>A	3.37:g.124692596C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NX66|Q8NC40|Q9BSV0	Silent	SNP	pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom	p.Q1325	ENST00000311127.4	37	c.3975	CCDS46898.1	3																																																																																			HEG1	-	NULL	ENSG00000173706		0.478	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEG1	HGNC	protein_coding	OTTHUMT00000355732.2	100	0.00	0	C	XM_087386		124692596	124692596	-1	no_errors	ENST00000311127	ensembl	human	known	69_37n	silent	100	15.25	18	SNP	1.000	T
HEG1	57493	genome.wustl.edu	37	3	124748267	124748267	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:124748267G>C	ENST00000311127.4	-	2	449	c.382C>G	c.(382-384)Cag>Gag	p.Q128E		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	128					cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						TCTTGATTCTGATAGAAGGTG	0.483																																						dbGAP											0													120.0	111.0	114.0					3																	124748267		1888	4124	6012	-	-	-	SO:0001583	missense	0			AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"""heart of glass"""	614182	"""HEG homolog 1 (zebrafish)"""			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.382C>G	3.37:g.124748267G>C	ENSP00000311502:p.Gln128Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP	pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom	p.Q128E	ENST00000311127.4	37	c.382	CCDS46898.1	3	.	.	.	.	.	.	.	.	.	.	G	7.454	0.643378	0.14451	.	.	ENSG00000173706	ENST00000311127	T	0.39997	1.05	5.52	4.63	0.57726	.	.	.	.	.	T	0.28466	0.0704	L	0.29908	0.895	0.09310	N	1	B;B	0.30741	0.287;0.293	B;B	0.28011	0.085;0.039	T	0.08330	-1.0727	9	0.14252	T	0.57	.	10.5003	0.44802	0.0893:0.0:0.9107:0.0	.	128;128	Q9ULI3-2;Q9ULI3	.;HEG1_HUMAN	E	128	ENSP00000311502:Q128E	ENSP00000311502:Q128E	Q	-	1	0	HEG1	126230957	0.018000	0.18449	0.023000	0.16930	0.106000	0.19336	1.940000	0.40223	2.873000	0.98535	0.563000	0.77884	CAG	HEG1	-	NULL	ENSG00000173706		0.483	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEG1	HGNC	protein_coding	OTTHUMT00000355732.2	96	0.00	0	G	XM_087386		124748267	124748267	-1	no_errors	ENST00000311127	ensembl	human	known	69_37n	missense	85	39.29	55	SNP	0.011	C
HELZ	9931	genome.wustl.edu	37	17	65147275	65147275	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:65147275G>C	ENST00000358691.5	-	18	2409	c.2243C>G	c.(2242-2244)tCa>tGa	p.S748*	HELZ_ENST00000580168.1_Nonsense_Mutation_p.S749*	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	748						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					ATGTGCGCTTGAGATCAAACA	0.403																																						dbGAP											0													139.0	138.0	139.0					17																	65147275		1912	4107	6019	-	-	-	SO:0001587	stop_gained	0			D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.2243C>G	17.37:g.65147275G>C	ENSP00000351524:p.Ser748*	Somatic		WXS	Illumina GAIIx	Phase_IV	I6L9H4	Nonsense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.S748*	ENST00000358691.5	37	c.2243	CCDS42374.1	17	.	.	.	.	.	.	.	.	.	.	G	41	9.112832	0.99069	.	.	ENSG00000198265	ENST00000358691	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-12.7159	19.1599	0.93526	0.0:0.0:1.0:0.0	.	.	.	.	X	748	.	ENSP00000351524:S748X	S	-	2	0	HELZ	62577737	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.476000	0.97823	2.521000	0.84997	0.650000	0.86243	TCA	HELZ	-	NULL	ENSG00000198265		0.403	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HELZ	HGNC	protein_coding	OTTHUMT00000447068.1	88	0.00	0	G	NM_014877		65147275	65147275	-1	no_errors	ENST00000358691	ensembl	human	known	69_37n	nonsense	185	10.19	21	SNP	1.000	C
HEMK1	51409	genome.wustl.edu	37	3	50608743	50608743	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:50608743C>T	ENST00000232854.4	+	2	760	c.208C>T	c.(208-210)Cat>Tat	p.H70Y	C3orf18_ENST00000449241.1_5'Flank|HEMK1_ENST00000434410.1_Missense_Mutation_p.H70Y|HEMK1_ENST00000455834.1_Missense_Mutation_p.H70Y	NM_016173.3	NP_057257.1	Q9Y5R4	HEMK1_HUMAN	HemK methyltransferase family member 1	70					DNA methylation (GO:0006306)	mitochondrion (GO:0005739)	DNA binding (GO:0003677)|N-methyltransferase activity (GO:0008170)|protein methyltransferase activity (GO:0008276)			lung(3)	3				BRCA - Breast invasive adenocarcinoma(193;0.000283)|KIRC - Kidney renal clear cell carcinoma(197;0.0179)|Kidney(197;0.0212)		CATCGTGGCTCATGTCCTTGG	0.522																																						dbGAP											0													69.0	71.0	70.0					3																	50608743		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF172244	CCDS2830.1	3p21	2008-02-05			ENSG00000114735	ENSG00000114735			24923	protein-coding gene	gene with protein product						10690633	Standard	XM_005265218		Approved	MTQ1	uc003dav.3	Q9Y5R4	OTTHUMG00000156849	ENST00000232854.4:c.208C>T	3.37:g.50608743C>T	ENSP00000232854:p.His70Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Small_mtfrase_dom,pfam_RNA_methylase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_RNA_MeTrfase_RsmD,pfam_Methyltransf_11,prints_D21N6_MeTrfase,tigrfam_Release_fac_Glu-N5_MeTfrase,tigrfam_Modification_methylase_HemK	p.H70Y	ENST00000232854.4	37	c.208	CCDS2830.1	3	.	.	.	.	.	.	.	.	.	.	C	15.33	2.800742	0.50315	.	.	ENSG00000114735	ENST00000434410;ENST00000232854;ENST00000455834	T;T;T	0.14022	2.54;2.54;2.54	5.72	5.72	0.89469	.	0.210963	0.39909	N	0.001232	T	0.15652	0.0377	L	0.58810	1.83	0.46376	D	0.999012	B	0.29085	0.232	B	0.31686	0.134	T	0.03112	-1.1071	10	0.28530	T	0.3	-12.7154	10.8349	0.46681	0.0:0.9144:0.0:0.0856	.	70	Q9Y5R4	HEMK1_HUMAN	Y	70	ENSP00000404843:H70Y;ENSP00000232854:H70Y;ENSP00000404334:H70Y	ENSP00000232854:H70Y	H	+	1	0	HEMK1	50583747	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.103000	0.57783	2.711000	0.92665	0.655000	0.94253	CAT	HEMK1	-	tigrfam_Release_fac_Glu-N5_MeTfrase,tigrfam_Modification_methylase_HemK	ENSG00000114735		0.522	HEMK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HEMK1	HGNC	protein_coding	OTTHUMT00000346231.1	57	0.00	0	C	NM_016173		50608743	50608743	+1	no_errors	ENST00000232854	ensembl	human	known	69_37n	missense	68	20.93	18	SNP	1.000	T
HEPHL1	341208	genome.wustl.edu	37	11	93797515	93797515	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:93797515C>T	ENST00000315765.9	+	4	655	c.647C>T	c.(646-648)tCa>tTa	p.S216L		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	216					copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				AATAGATATTCAGGGACACGG	0.388																																						dbGAP											0													122.0	114.0	117.0					11																	93797515		1874	4099	5973	-	-	-	SO:0001583	missense	0			BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.647C>T	11.37:g.93797515C>T	ENSP00000313699:p.Ser216Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3C1W7	Missense_Mutation	SNP	pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin	p.S216L	ENST00000315765.9	37	c.647	CCDS44710.1	11	.	.	.	.	.	.	.	.	.	.	C	6.071	0.381369	0.11466	.	.	ENSG00000181333	ENST00000315765	D	0.98617	-5.03	5.04	3.18	0.36537	.	0.898768	0.09552	N	0.786794	D	0.96346	0.8808	L	0.43152	1.355	0.18873	N	0.999985	B	0.10296	0.003	B	0.09377	0.004	D	0.91639	0.5325	10	0.29301	T	0.29	.	8.4352	0.32782	0.0:0.7653:0.0:0.2347	.	216	Q6MZM0	HPHL1_HUMAN	L	216	ENSP00000313699:S216L	ENSP00000313699:S216L	S	+	2	0	HEPHL1	93437163	0.406000	0.25344	0.900000	0.35374	0.073000	0.16967	0.682000	0.25335	1.133000	0.42147	-0.137000	0.14449	TCA	HEPHL1	-	NULL	ENSG00000181333		0.388	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	HEPHL1	HGNC	protein_coding	OTTHUMT00000396103.2	103	0.00	0	C	XM_291947		93797515	93797515	+1	no_errors	ENST00000315765	ensembl	human	known	69_37n	missense	71	39.83	47	SNP	0.163	T
HERC1	8925	genome.wustl.edu	37	15	63937810	63937810	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:63937810C>G	ENST00000443617.2	-	56	11037	c.10950G>C	c.(10948-10950)gtG>gtC	p.V3650V		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3650					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CCCAGAGTTTCACACTGTCTT	0.438																																						dbGAP											0													69.0	67.0	68.0					15																	63937810		1920	4136	6056	-	-	-	SO:0001819	synonymous_variant	0			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.10950G>C	15.37:g.63937810C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IW65	Silent	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.V3650	ENST00000443617.2	37	c.10950	CCDS45277.1	15																																																																																			HERC1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000103657		0.438	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	HGNC	protein_coding	OTTHUMT00000418523.1	75	0.00	0	C	NM_003922		63937810	63937810	-1	no_errors	ENST00000443617	ensembl	human	known	69_37n	silent	73	17.98	16	SNP	1.000	G
HERC1	8925	genome.wustl.edu	37	15	63955206	63955206	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:63955206C>G	ENST00000443617.2	-	44	8965	c.8878G>C	c.(8878-8880)Gag>Cag	p.E2960Q		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2960					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TCCAGTACCTCTGGGATCCAC	0.483																																						dbGAP											0													84.0	84.0	84.0					15																	63955206		2113	4242	6355	-	-	-	SO:0001583	missense	0			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.8878G>C	15.37:g.63955206C>G	ENSP00000390158:p.Glu2960Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IW65	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.E2960Q	ENST00000443617.2	37	c.8878	CCDS45277.1	15	.	.	.	.	.	.	.	.	.	.	C	23.5	4.427700	0.83667	.	.	ENSG00000103657	ENST00000443617	T	0.31510	1.49	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.51261	0.1664	L	0.43152	1.355	0.80722	D	1	D	0.63880	0.993	D	0.72982	0.979	T	0.45644	-0.9247	10	0.72032	D	0.01	.	20.3172	0.98658	0.0:1.0:0.0:0.0	.	2960	Q15751	HERC1_HUMAN	Q	2960	ENSP00000390158:E2960Q	ENSP00000390158:E2960Q	E	-	1	0	HERC1	61742259	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.814000	0.86154	2.801000	0.96364	0.650000	0.86243	GAG	HERC1	-	NULL	ENSG00000103657		0.483	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	HGNC	protein_coding	OTTHUMT00000418523.1	80	0.00	0	C	NM_003922		63955206	63955206	-1	no_errors	ENST00000443617	ensembl	human	known	69_37n	missense	65	25.29	22	SNP	1.000	G
HERC2	8924	genome.wustl.edu	37	15	28431765	28431765	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:28431765G>A	ENST00000261609.7	-	56	8891	c.8783C>T	c.(8782-8784)tCg>tTg	p.S2928L		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)		TTCATTATCCGAAGCTAAGAA	0.498																																						dbGAP											0													97.0	80.0	86.0					15																	28431765		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.8783C>T	15.37:g.28431765G>A	ENSP00000261609:p.Ser2928Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	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.S2928L	ENST00000261609.7	37	c.8783	CCDS10021.1	15	.	.	.	.	.	.	.	.	.	.	G	15.88	2.964147	0.53507	.	.	ENSG00000128731	ENST00000261609	T	0.40476	1.03	5.01	5.01	0.66863	Anaphase-promoting complex, subunit 10/DOC domain (1);	0.000000	0.85682	D	0.000000	T	0.32941	0.0846	L	0.41492	1.28	0.80722	D	1	P	0.49635	0.926	B	0.33960	0.173	T	0.29150	-1.0021	10	0.44086	T	0.13	.	18.7021	0.91625	0.0:0.0:1.0:0.0	.	2928	O95714	HERC2_HUMAN	L	2928	ENSP00000261609:S2928L	ENSP00000261609:S2928L	S	-	2	0	HERC2	26105360	1.000000	0.71417	0.995000	0.50966	0.195000	0.23768	9.813000	0.99286	2.475000	0.83589	0.655000	0.94253	TCG	HERC2	-	NULL	ENSG00000128731		0.498	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	HGNC	protein_coding	OTTHUMT00000251358.2	73	0.00	0	G	NM_004667		28431765	28431765	-1	no_errors	ENST00000261609	ensembl	human	known	69_37n	missense	54	14.29	9	SNP	1.000	A
HERC1	8925	genome.wustl.edu	37	15	64019902	64019902	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:64019902C>T	ENST00000443617.2	-	17	3377	c.3290G>A	c.(3289-3291)aGa>aAa	p.R1097K		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1097					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TGGCAGGAGTCTATTAAGGCA	0.448																																						dbGAP											0													55.0	53.0	54.0					15																	64019902		1895	4139	6034	-	-	-	SO:0001583	missense	0			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.3290G>A	15.37:g.64019902C>T	ENSP00000390158:p.Arg1097Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IW65	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.R1097K	ENST00000443617.2	37	c.3290	CCDS45277.1	15	.	.	.	.	.	.	.	.	.	.	C	17.11	3.306774	0.60305	.	.	ENSG00000103657	ENST00000443617	T	0.45668	0.89	5.39	5.39	0.77823	.	0.000000	0.85682	U	0.000000	T	0.28134	0.0694	N	0.12746	0.255	0.46149	D	0.998893	B	0.06786	0.001	B	0.08055	0.003	T	0.07809	-1.0753	10	0.17369	T	0.5	.	19.151	0.93488	0.0:1.0:0.0:0.0	.	1097	Q15751	HERC1_HUMAN	K	1097	ENSP00000390158:R1097K	ENSP00000390158:R1097K	R	-	2	0	HERC1	61806955	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.851000	0.69481	2.528000	0.85240	0.655000	0.94253	AGA	HERC1	-	NULL	ENSG00000103657		0.448	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	HGNC	protein_coding	OTTHUMT00000418523.1	87	0.00	0	C	NM_003922		64019902	64019902	-1	no_errors	ENST00000443617	ensembl	human	known	69_37n	missense	49	27.94	19	SNP	1.000	T
HERC5	51191	genome.wustl.edu	37	4	89410467	89410467	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:89410467G>C	ENST00000264350.3	+	16	2266	c.2113G>C	c.(2113-2115)Gac>Cac	p.D705H	HERC5_ENST00000508159.1_Missense_Mutation_p.D343H	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	705	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		TGAGAATGAAGACCTGAGGAA	0.378																																					Esophageal Squamous(39;887 1012 34045 50514)	dbGAP											0													184.0	195.0	191.0					4																	89410467		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646			24368	protein-coding gene	gene with protein product		608242	"""hect domain and RLD 5"""			10581175	Standard	NM_016323		Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	ENST00000264350.3:c.2113G>C	4.37:g.89410467G>C	ENSP00000264350:p.Asp705His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTQ1|Q69G20	Missense_Mutation	SNP	pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Haem_Oase-like_multi-hlx,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.D705H	ENST00000264350.3	37	c.2113	CCDS3630.1	4	.	.	.	.	.	.	.	.	.	.	G	13.11	2.138494	0.37728	.	.	ENSG00000138646	ENST00000264350;ENST00000508159	T;T	0.80566	-1.39;-1.39	5.03	4.19	0.49359	HECT (3);	0.198312	0.32819	N	0.005610	D	0.88973	0.6583	M	0.88570	2.965	0.27413	N	0.954506	D	0.63880	0.993	D	0.68483	0.958	T	0.82518	-0.0417	10	0.87932	D	0	.	7.5904	0.28017	0.1872:0.0:0.8128:0.0	.	705	Q9UII4	HERC5_HUMAN	H	705;343	ENSP00000264350:D705H;ENSP00000424129:D343H	ENSP00000264350:D705H	D	+	1	0	HERC5	89629490	0.995000	0.38212	1.000000	0.80357	0.288000	0.27193	1.598000	0.36740	1.338000	0.45544	-0.145000	0.13849	GAC	HERC5	-	superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000138646		0.378	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC5	HGNC	protein_coding	OTTHUMT00000253554.2	172	0.00	0	G	NM_016323		89410467	89410467	+1	no_errors	ENST00000264350	ensembl	human	known	69_37n	missense	97	21.77	27	SNP	1.000	C
HEXA	3073	genome.wustl.edu	37	15	72638658	72638658	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:72638658C>G	ENST00000268097.5	-	12	1842	c.1339G>C	c.(1339-1341)Gag>Cag	p.E447Q	HEXA_ENST00000567159.1_Missense_Mutation_p.E447Q|RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000457859.2_Nonstop_Mutation_p.*169S|HEXA_ENST00000566304.1_Missense_Mutation_p.E458Q|HEXA_ENST00000429918.2_Missense_Mutation_p.E274Q|RP11-106M3.3_ENST00000570175.1_RNA	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	447					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-N-acetylhexosaminidase activity (GO:0004563)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						GCCTTCTGCTCAGGGGTACCT	0.562																																						dbGAP											0													53.0	45.0	48.0					15																	72638658		2199	4297	6496	-	-	-	SO:0001583	missense	0			M13520	CCDS10243.1	15q24.1	2012-10-02			ENSG00000213614	ENSG00000213614	3.2.1.52		4878	protein-coding gene	gene with protein product	"""Tay Sachs disease"", ""GM2 gangliosidosis"""	606869				2952641, 3013851	Standard	NM_000520		Approved		uc002aun.4	P06865	OTTHUMG00000133445	ENST00000268097.5:c.1339G>C	15.37:g.72638658C>G	ENSP00000268097:p.Glu447Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DKE7|E7ENH7|Q53HS8|Q6AI32	Missense_Mutation	SNP	pfam_Glyco_hydro_20_cat-core,pfam_Glyco_hydro_20b,superfamily_Glycoside_hydrolase_SF,prints_Beta_hexosaminidase_sua/sub	p.E447Q	ENST00000268097.5	37	c.1339	CCDS10243.1	15	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.116|8.116	0.779863|0.779863	0.16120|0.16120	.|.	.|.	ENSG00000213614|ENSG00000213614	ENST00000268097;ENST00000429918|ENST00000457859	D;D|.	0.95724|.	-3.79;-3.79|.	5.8|5.8	0.739|0.739	0.18324|0.18324	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 20, catalytic core (1);|.	0.500668|.	0.21608|.	N|.	0.071827|.	T|.	0.38639|.	0.1048|.	L|L	0.51914|0.51914	1.62|1.62	0.09310|0.09310	N|N	1|1	B;B;B;B;B|.	0.20052|.	0.008;0.041;0.004;0.004;0.017|.	B;B;B;B;B|.	0.24974|.	0.015;0.057;0.015;0.009;0.015|.	T|.	0.30208|.	-0.9986|.	10|.	0.37606|.	T|.	0.19|.	-4.0188|-4.0188	6.5944|6.5944	0.22664|0.22664	0.0:0.5209:0.2281:0.251|0.0:0.5209:0.2281:0.251	.|.	274;458;274;327;447|.	E9PGL4;B4DVA7;B4DVL8;Q9BVJ8;P06865|.	.;.;.;.;HEXA_HUMAN|.	Q|S	447;274|169	ENSP00000268097:E447Q;ENSP00000416187:E274Q|.	ENSP00000268097:E447Q|.	E|X	-|-	1|2	0|2	HEXA|HEXA	70425712|70425712	0.101000|0.101000	0.21875|0.21875	0.023000|0.023000	0.16930|0.16930	0.629000|0.629000	0.37895|0.37895	0.654000|0.654000	0.24918|0.24918	-0.100000|-0.100000	0.12241|0.12241	-0.844000|-0.844000	0.03045|0.03045	GAG|TGA	HEXA	-	pfam_Glyco_hydro_20_cat-core,superfamily_Glycoside_hydrolase_SF	ENSG00000213614		0.562	HEXA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEXA	HGNC	protein_coding	OTTHUMT00000257317.2	36	0.00	0	C	NM_000520		72638658	72638658	-1	no_errors	ENST00000268097	ensembl	human	known	69_37n	missense	34	19.05	8	SNP	0.129	G
HEY1	23462	genome.wustl.edu	37	8	80677501	80677501	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:80677501C>T	ENST00000354724.3	-	5	1036	c.837G>A	c.(835-837)ctG>ctA	p.L279L	RP11-27N21.3_ENST00000607172.1_lincRNA|HEY1_ENST00000337919.5_Silent_p.L283L|HEY1_ENST00000523976.1_Silent_p.L189L|HEY1_ENST00000435063.2_5'UTR	NM_012258.3	NP_036390.3	Q9Y5J3	HEY1_HUMAN	hes-related family bHLH transcription factor with YRPW motif 1	279					angiogenesis (GO:0001525)|anterior/posterior axis specification (GO:0009948)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular valve formation (GO:0003190)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac septum morphogenesis (GO:0060411)|cardiac ventricle morphogenesis (GO:0003208)|cellular response to glucocorticoid stimulus (GO:0071385)|dorsal aorta morphogenesis (GO:0035912)|endocardial cushion morphogenesis (GO:0003203)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000820)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve morphogenesis (GO:0003184)|regulation of vasculogenesis (GO:2001212)|transcription from RNA polymerase II promoter (GO:0006366)|umbilical cord morphogenesis (GO:0036304)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)		HEY1/NCOA2(10)	cervix(1)|kidney(2)|large_intestine(5)|lung(14)	22	all_lung(9;5.1e-05)		Epithelial(68;0.076)|all cancers(69;0.179)			CTGAAGGGCTCAGTGCATTGG	0.572			T	NCOA2	mesenchymal chondrosarcoma						OREG0018837	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP		Dom	yes		8	8q21	23462	hairy/enhancer-of-split related with YRPW motif 1		M	0													38.0	28.0	31.0					8																	80677501		2181	4266	6447	-	-	-	SO:0001819	synonymous_variant	0			AF151522	CCDS6225.1, CCDS43749.1, CCDS64915.1	8q21	2013-10-17	2013-10-17					"""Basic helix-loop-helix proteins"""	4880	protein-coding gene	gene with protein product		602953	"""hairy/enhancer-of-split related with YRPW motif 1"""			10415358, 10403790	Standard	NM_001040708		Approved	HESR-1, CHF2, HESR1, HRT-1, CHF-2, HERP2, BHLHb31	uc003ybl.3	Q9Y5J3		ENST00000354724.3:c.837G>A	8.37:g.80677501C>T		Somatic	1200	WXS	Illumina GAIIx	Phase_IV	B2R883|Q5TZS3|Q8NAM2|Q9NYP4	Silent	SNP	pfam_HLH_DNA-bd,pfam_Orange,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_Orange_subgr,pfscan_Orange,pfscan_HLH_DNA-bd	p.L283	ENST00000354724.3	37	c.849	CCDS6225.1	8																																																																																			HEY1	-	NULL	ENSG00000164683		0.572	HEY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HEY1	HGNC	protein_coding	OTTHUMT00000379516.1	68	0.00	0	C	NM_012258		80677501	80677501	-1	no_errors	ENST00000337919	ensembl	human	known	69_37n	silent	79	16.84	16	SNP	1.000	T
HGS	9146	genome.wustl.edu	37	17	79660949	79660949	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:79660949C>T	ENST00000329138.4	+	11	1025	c.890C>T	c.(889-891)tCg>tTg	p.S297L		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	297	Interaction with SNX1. {ECO:0000250}.				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)			CCCATGCCCTCGGCCTCCTCA	0.647																																						dbGAP											0													35.0	40.0	38.0					17																	79660949		2202	4300	6502	-	-	-	SO:0001583	missense	0			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.890C>T	17.37:g.79660949C>T	ENSP00000331201:p.Ser297Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NR36	Missense_Mutation	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.S297L	ENST00000329138.4	37	c.890	CCDS11784.1	17	.	.	.	.	.	.	.	.	.	.	C	2.847	-0.239064	0.05944	.	.	ENSG00000185359	ENST00000329138;ENST00000442335	T	0.39787	1.06	4.76	1.24	0.21308	.	0.405452	0.24530	N	0.037724	T	0.15435	0.0372	N	0.03608	-0.345	0.27790	N	0.942856	B	0.02656	0.0	B	0.01281	0.0	T	0.12319	-1.0552	10	0.27785	T	0.31	-1.0748	3.733	0.08500	0.1586:0.1929:0.0:0.6485	.	297	O14964	HGS_HUMAN	L	297	ENSP00000331201:S297L	ENSP00000331201:S297L	S	+	2	0	HGS	77271354	1.000000	0.71417	0.015000	0.15790	0.008000	0.06430	2.862000	0.48388	-0.063000	0.13065	0.655000	0.94253	TCG	HGS	-	pirsf_Ubi-bd_Hrs_VPS27	ENSG00000185359		0.647	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HGS	HGNC	protein_coding	OTTHUMT00000440541.1	30	0.00	0	C	NM_004712		79660949	79660949	+1	no_errors	ENST00000329138	ensembl	human	known	69_37n	missense	12	40.00	8	SNP	0.967	T
HGSNAT	138050	genome.wustl.edu	37	8	43033374	43033374	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:43033374C>A	ENST00000458501.2	+	10	1093	c.1093C>A	c.(1093-1095)Cca>Aca	p.P365T	HGSNAT_ENST00000521576.1_5'Flank|HGSNAT_ENST00000297798.7_5'Flank|HGSNAT_ENST00000379644.4_Missense_Mutation_p.P337T			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	365					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lysosomal transport (GO:0007041)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	heparan-alpha-glucosaminide N-acetyltransferase activity (GO:0015019)|transferase activity, transferring acyl groups (GO:0016746)			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			TTGCCTTGGTCCATGTAAGTA	0.378																																						dbGAP											0													185.0	173.0	177.0					8																	43033374		1836	4083	5919	-	-	-	SO:0001583	missense	0				CCDS47852.1	8p11.1	2011-11-16	2006-09-05	2006-08-16	ENSG00000165102	ENSG00000165102	2.3.1.78		26527	protein-coding gene	gene with protein product		610453	"""transmembrane protein 76"""	TMEM76		17033958, 16960811	Standard	NM_152419		Approved	FLJ32731, HGNAT	uc003xpx.4	Q68CP4	OTTHUMG00000164102	ENST00000458501.2:c.1093C>A	8.37:g.43033374C>A	ENSP00000389524:p.Pro365Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E2V0	Missense_Mutation	SNP	pfam_DUF1624	p.P365T	ENST00000458501.2	37	c.1093		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.17|15.17	2.753840|2.753840	0.49362|0.49362	.|.	.|.	ENSG00000165102|ENSG00000165102	ENST00000458501;ENST00000379644;ENST00000522082|ENST00000524016	D;D;D|.	0.89746|.	-2.56;-2.56;-2.56|.	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	0.181927|.	0.47852|.	D|.	0.000209|.	T|T	0.73521|0.73521	0.3597|0.3597	M|M	0.67953|0.67953	2.075|2.075	0.80722|0.80722	D|D	1|1	P|.	0.42248|.	0.774|.	P|.	0.48873|.	0.593|.	T|T	0.72320|0.72320	-0.4329|-0.4329	10|5	0.20519|.	T|.	0.43|.	-10.2213|-10.2213	16.8104|16.8104	0.85717|0.85717	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	365|.	Q68CP4|.	HGNAT_HUMAN|.	T|Y	365;337;84|38	ENSP00000389524:P365T;ENSP00000368965:P337T;ENSP00000430151:P84T|.	ENSP00000368965:P337T|.	P|S	+|+	1|2	0|0	HGSNAT|HGSNAT	43152531|43152531	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	3.388000|3.388000	0.52509|0.52509	2.582000|2.582000	0.87167|0.87167	0.650000|0.650000	0.86243|0.86243	CCA|TCC	HGSNAT	-	pfam_DUF1624	ENSG00000165102		0.378	HGSNAT-202	KNOWN	basic	protein_coding	HGSNAT	HGNC	protein_coding		245	0.00	0	C	XM_372038		43033374	43033374	+1	no_errors	ENST00000458501	ensembl	human	known	69_37n	missense	105	34.38	55	SNP	1.000	A
HHIPL1	84439	genome.wustl.edu	37	14	100118806	100118806	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:100118806C>T	ENST00000330710.5	+	2	599	c.501C>T	c.(499-501)ctC>ctT	p.L167L	HHIPL1_ENST00000357223.2_Silent_p.L167L	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	167					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				ACAAGAACCTCAACTCAAACC	0.632																																						dbGAP											0													107.0	92.0	97.0					14																	100118806		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB058725	CCDS9953.1, CCDS45162.1	14q32	2008-01-16	2008-01-16	2008-01-16		ENSG00000182218			19710	protein-coding gene	gene with protein product			"""KIAA1822"""	KIAA1822			Standard	NM_032425		Approved		uc010avs.3	Q96JK4		ENST00000330710.5:c.501C>T	14.37:g.100118806C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RUF8|B2RN09|Q6UXX2	Silent	SNP	pfam_Srcr_rcpt,pfam_Folate_rcpt-like,pfam_Glc/Sorbosone_DH,superfamily_Srcr_rcpt-rel,superfamily_Quinoprot_gluc/sorb_DH,smart_Srcr_rcpt-rel,prints_Srcr_rcpt,pfscan_Srcr_rcpt	p.L167	ENST00000330710.5	37	c.501	CCDS45162.1	14																																																																																			HHIPL1	-	pfam_Folate_rcpt-like	ENSG00000182218		0.632	HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HHIPL1	HGNC	protein_coding	OTTHUMT00000413811.1	43	0.00	0	C	XM_041566		100118806	100118806	+1	no_errors	ENST00000330710	ensembl	human	known	69_37n	silent	33	15.38	6	SNP	0.969	T
HHIPL2	79802	genome.wustl.edu	37	1	222695980	222695980	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:222695980G>A	ENST00000343410.6	-	9	2196	c.2138C>T	c.(2137-2139)tCa>tTa	p.S713L	HHIPL2_ENST00000473144.1_5'UTR	NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	713					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CTGCTCTGCTGATGGCCTCAT	0.582																																						dbGAP											0													169.0	181.0	177.0					1																	222695980		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"""KIAA1822-like"""	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.2138C>T	1.37:g.222695980G>A	ENSP00000342118:p.Ser713Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Missense_Mutation	SNP	pfam_Folate_rcpt-like,pfam_Glc/Sorbosone_DH,superfamily_Quinoprot_gluc/sorb_DH,superfamily_Saposin-like	p.S713L	ENST00000343410.6	37	c.2138	CCDS1530.2	1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.690309	0.29962	.	.	ENSG00000143512	ENST00000343410	T	0.13901	2.55	5.13	1.12	0.20585	.	2.748540	0.01172	N	0.006888	T	0.13586	0.0329	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.28964	-1.0027	10	0.41790	T	0.15	10.9841	7.6164	0.28160	0.357:0.0:0.643:0.0	.	713	Q6UWX4	HIPL2_HUMAN	L	713	ENSP00000342118:S713L	ENSP00000342118:S713L	S	-	2	0	HHIPL2	220762603	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	0.324000	0.19610	0.185000	0.20105	-0.140000	0.14226	TCA	HHIPL2	-	NULL	ENSG00000143512		0.582	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HHIPL2	HGNC	protein_coding	OTTHUMT00000091499.2	127	0.00	0	G	NM_024746		222695980	222695980	-1	no_errors	ENST00000343410	ensembl	human	known	69_37n	missense	118	15.71	22	SNP	0.000	A
HHLA2	11148	genome.wustl.edu	37	3	108074187	108074187	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:108074187C>T	ENST00000357759.5	+	5	1058	c.644C>T	c.(643-645)tCa>tTa	p.S215L	HHLA2_ENST00000467761.1_Missense_Mutation_p.S215L|HHLA2_ENST00000489514.2_Missense_Mutation_p.S215L|HHLA2_ENST00000491820.1_Missense_Mutation_p.S215L|HHLA2_ENST00000467562.1_Missense_Mutation_p.S151L	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	215	Ig-like C1-type.				positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytokine production (GO:0001819)|T cell costimulation (GO:0031295)	integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						ATTGAAAATTCACTGCTGAAG	0.423																																						dbGAP											0													89.0	87.0	88.0					3																	108074187		1876	4116	5992	-	-	-	SO:0001583	missense	0			AF126162	CCDS46883.1, CCDS63713.1, CCDS74975.1	3q13.13	2013-01-11			ENSG00000114455	ENSG00000114455		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	4905	protein-coding gene	gene with protein product		604371				10444326	Standard	NM_007072		Approved	B7H7	uc003dwz.3	Q9UM44	OTTHUMG00000159224	ENST00000357759.5:c.644C>T	3.37:g.108074187C>T	ENSP00000350402:p.Ser215Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DKN2|D3DN60|Q9NWQ6	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.S215L	ENST00000357759.5	37	c.644	CCDS46883.1	3	.	.	.	.	.	.	.	.	.	.	C	10.32	1.317901	0.23994	.	.	ENSG00000114455	ENST00000491820;ENST00000467562;ENST00000357759;ENST00000467761;ENST00000489514	T;T;T;T;T	0.03181	4.02;4.02;4.02;4.02;4.02	5.71	1.85	0.25348	Immunoglobulin-like (1);Immunoglobulin C1-set (1);Immunoglobulin-like fold (1);	0.960629	0.08491	N	0.938015	T	0.02807	0.0084	N	0.19112	0.55	0.09310	N	1	B;B;B	0.29955	0.263;0.263;0.263	B;B;B	0.34093	0.175;0.103;0.103	T	0.49707	-0.8911	9	.	.	.	0.5374	2.759	0.05302	0.1481:0.5477:0.1434:0.1608	.	151;215;215	B4DKN2;C9J7D0;Q9UM44	.;.;HHLA2_HUMAN	L	215;151;215;215;215	ENSP00000418284:S215L;ENSP00000418345:S151L;ENSP00000350402:S215L;ENSP00000419207:S215L;ENSP00000417856:S215L	.	S	+	2	0	HHLA2	109556877	0.002000	0.14202	0.001000	0.08648	0.273000	0.26683	0.200000	0.17257	0.331000	0.23511	0.655000	0.94253	TCA	HHLA2	-	pfam_Ig_C1-set,pfscan_Ig-like	ENSG00000114455		0.423	HHLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HHLA2	HGNC	protein_coding	OTTHUMT00000353924.1	55	0.00	0	C	NM_007072		108074187	108074187	+1	no_errors	ENST00000357759	ensembl	human	known	69_37n	missense	53	25.35	18	SNP	0.000	T
HIGD2A	192286	genome.wustl.edu	37	5	175816403	175816403	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:175816403C>T	ENST00000274787.2	+	2	299	c.226C>T	c.(226-228)Cag>Tag	p.Q76*	NOP16_ENST00000510123.1_5'Flank|NOP16_ENST00000509257.1_5'Flank|NOP16_ENST00000507413.1_5'Flank|NOP16_ENST00000389158.5_5'Flank	NM_138820.2	NP_620175.1	Q9BW72	HIG2A_HUMAN	HIG1 hypoxia inducible domain family, member 2A	76	HIG1. {ECO:0000255|PROSITE- ProRule:PRU00836}.				negative regulation of apoptotic process (GO:0043066)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|respiratory chain (GO:0070469)				large_intestine(1)	1	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)		CCAGCGCTCTCAGCTCATGAT	0.637																																						dbGAP											0													66.0	73.0	71.0					5																	175816403		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC007502	CCDS4401.1	5q35.2	2009-03-17	2009-03-17		ENSG00000146066	ENSG00000146066			28311	protein-coding gene	gene with protein product			"""HIG1 domain family, member 2A"""			12477932	Standard	NM_138820		Approved	MGC2198	uc003meg.3	Q9BW72	OTTHUMG00000130657	ENST00000274787.2:c.226C>T	5.37:g.175816403C>T	ENSP00000274787:p.Gln76*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_Hypoxia_induced_domain	p.Q76*	ENST00000274787.2	37	c.226	CCDS4401.1	5	.	.	.	.	.	.	.	.	.	.	C	37	6.272897	0.97431	.	.	ENSG00000146066	ENST00000274787	.	.	.	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-16.9141	20.2618	0.98447	0.0:1.0:0.0:0.0	.	.	.	.	X	76	.	ENSP00000274787:Q76X	Q	+	1	0	HIGD2A	175749009	1.000000	0.71417	0.977000	0.42913	0.901000	0.52897	7.437000	0.80417	2.793000	0.96121	0.655000	0.94253	CAG	HIGD2A	-	pfam_Hypoxia_induced_domain	ENSG00000146066		0.637	HIGD2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIGD2A	HGNC	protein_coding	OTTHUMT00000253147.1	32	0.00	0	C	NM_138820		175816403	175816403	+1	no_errors	ENST00000274787	ensembl	human	known	69_37n	nonsense	22	21.43	6	SNP	1.000	T
HIP1	3092	genome.wustl.edu	37	7	75167540	75167540	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:75167540C>G	ENST00000336926.6	-	31	3093	c.3067G>C	c.(3067-3069)Gag>Cag	p.E1023Q	HIP1_ENST00000434438.2_Missense_Mutation_p.E972Q	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	1023					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GGAGATGCCTCTGTTCCTAAA	0.408			T	PDGFRB	CMML																																	dbGAP		Dom	yes		7	7q11.23	3092	huntingtin interacting protein 1		L	0													397.0	334.0	356.0					7																	75167540		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.3067G>C	7.37:g.75167540C>G	ENSP00000336747:p.Glu1023Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Missense_Mutation	SNP	pfam_ANTH,pfam_ILWEQ,pfam_Epsin_dom_N,superfamily_ENTH_VHS,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Epsin-like_N,smart_ILWEQ,pfscan_Epsin-like_N,pfscan_ILWEQ	p.E1023Q	ENST00000336926.6	37	c.3067	CCDS34669.1	7	.	.	.	.	.	.	.	.	.	.	C	10.13	1.264877	0.23136	.	.	ENSG00000127946	ENST00000336926;ENST00000434438	T;T	0.15017	2.68;2.46	4.46	4.46	0.54185	.	1.209300	0.05873	N	0.625062	T	0.18173	0.0436	L	0.40543	1.245	0.34490	D	0.704893	B;B	0.20550	0.029;0.046	B;B	0.17098	0.017;0.006	T	0.07214	-1.0784	10	0.27082	T	0.32	-7.3544	12.5063	0.55984	0.0:1.0:0.0:0.0	.	972;1023	E7ES17;O00291	.;HIP1_HUMAN	Q	1023;972	ENSP00000336747:E1023Q;ENSP00000410300:E972Q	ENSP00000336747:E1023Q	E	-	1	0	HIP1	75005476	0.988000	0.35896	0.972000	0.41901	0.762000	0.43233	3.347000	0.52200	2.310000	0.77875	0.561000	0.74099	GAG	HIP1	-	NULL	ENSG00000127946		0.408	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIP1	HGNC	protein_coding	OTTHUMT00000342863.2	268	0.00	0	C	NM_005338		75167540	75167540	-1	no_errors	ENST00000336926	ensembl	human	known	69_37n	missense	267	18.60	61	SNP	0.984	G
HIPK1	204851	genome.wustl.edu	37	1	114515946	114515946	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:114515946C>G	ENST00000369558.1	+	16	3677	c.3445C>G	c.(3445-3447)Cct>Gct	p.P1149A	HIPK1_ENST00000340480.4_Missense_Mutation_p.P775A|HIPK1_ENST00000369555.2_Missense_Mutation_p.P1104A|HIPK1_ENST00000426820.2_Missense_Mutation_p.P1149A|HIPK1_ENST00000369553.1_Missense_Mutation_p.P755A|HIPK1_ENST00000369561.4_Missense_Mutation_p.P1115A|HIPK1_ENST00000406344.1_Missense_Mutation_p.P755A|HIPK1_ENST00000369554.2_Missense_Mutation_p.P1104A			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	1149					anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		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)		TACCACTCACCCTAGCACTTT	0.592																																						dbGAP											0													179.0	144.0	156.0					1																	114515946		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.3445C>G	1.37:g.114515946C>G	ENSP00000358571:p.Pro1149Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	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.P1149A	ENST00000369558.1	37	c.3445	CCDS867.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.4|22.4	4.286910|4.286910	0.80803|0.80803	.|.	.|.	ENSG00000163349|ENSG00000163349	ENST00000426820;ENST00000443627;ENST00000369554;ENST00000369555;ENST00000369558;ENST00000369561;ENST00000340480;ENST00000369553;ENST00000406344|ENST00000361587	T;T;T;T;T;T;T;T;T|.	0.59083|.	0.29;0.37;0.36;0.36;0.37;0.33;3.4;2.49;2.49|.	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	0.000000|0.000000	0.64402|0.64402	D|D	0.000002|0.000002	T|T	0.63803|0.63803	0.2542|0.2542	L|L	0.49350|0.49350	1.555|1.555	0.80722|0.80722	D|D	1|1	P;D;D|.	0.76494|.	0.845;0.991;0.999|.	P;P;D|.	0.75484|.	0.755;0.885;0.986|.	T|T	0.58836|0.58836	-0.7566|-0.7566	10|6	0.31617|.	T|.	0.26|.	.|.	19.8145|19.8145	0.96560|0.96560	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	441;755;1149|.	E9PCF6;Q86Z02-4;Q86Z02|.	.;.;HIPK1_HUMAN|.	A|R	1220;1149;1104;1104;1149;1115;775;755;755|429	ENSP00000407442:P1220A;ENSP00000409673:P1149A;ENSP00000358567:P1104A;ENSP00000358568:P1104A;ENSP00000358571:P1149A;ENSP00000358574:P1115A;ENSP00000340956:P775A;ENSP00000358566:P755A;ENSP00000384960:P755A|.	ENSP00000340956:P775A|.	P|P	+|+	1|2	0|0	HIPK1|HIPK1	114317469|114317469	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.978000|0.978000	0.69477|0.69477	7.422000|7.422000	0.80217|0.80217	2.683000|2.683000	0.91414|0.91414	0.563000|0.563000	0.77884|0.77884	CCT|CCC	HIPK1	-	NULL	ENSG00000163349		0.592	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	HIPK1	HGNC	protein_coding	OTTHUMT00000033127.1	92	0.00	0	C	NM_198268		114515946	114515946	+1	no_errors	ENST00000369558	ensembl	human	known	69_37n	missense	87	22.32	25	SNP	1.000	G
HIPK3	10114	genome.wustl.edu	37	11	33370299	33370299	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:33370299G>A	ENST00000303296.4	+	13	2906	c.2601G>A	c.(2599-2601)gtG>gtA	p.V867V	HIPK3_ENST00000379016.3_Silent_p.V846V|HIPK3_ENST00000456517.1_Silent_p.V846V|HIPK3_ENST00000525975.1_Silent_p.V846V	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	867	Interaction with AR. {ECO:0000250}.|Interaction with FAS. {ECO:0000250}.|Required for localization to nuclear speckles. {ECO:0000250}.|SUMO interaction motifs (SIM); required for nuclear localization and kinase activity. {ECO:0000250}.				apoptotic process (GO:0006915)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						GTCCTGCAGTGAGTGTCATCA	0.463																																						dbGAP											0													83.0	77.0	79.0					11																	33370299		2202	4298	6500	-	-	-	SO:0001819	synonymous_variant	0			AF004849	CCDS7884.1, CCDS41634.1	11p13	2008-07-18	2001-11-29		ENSG00000110422	ENSG00000110422			4915	protein-coding gene	gene with protein product		604424	"""homeodomain-interacting protein kinase 3"""			9373137, 9748262	Standard	NM_005734		Approved	PKY, DYRK6, YAK1, FIST3	uc031pzm.1	Q9H422	OTTHUMG00000132269	ENST00000303296.4:c.2601G>A	11.37:g.33370299G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.V867	ENST00000303296.4	37	c.2601	CCDS7884.1	11																																																																																			HIPK3	-	NULL	ENSG00000110422		0.463	HIPK3-001	KNOWN	basic|CCDS	protein_coding	HIPK3	HGNC	protein_coding	OTTHUMT00000255358.1	39	0.00	0	G	NM_005734		33370299	33370299	+1	no_errors	ENST00000303296	ensembl	human	known	69_37n	silent	43	22.81	13	SNP	0.998	A
HIST1H1C	3006	genome.wustl.edu	37	6	26056108	26056108	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:26056108C>T	ENST00000343677.2	-	1	591	c.549G>A	c.(547-549)aaG>aaA	p.K183K		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	183					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						TGGCAGCTTTCTTGGGCTTCG	0.552																																						dbGAP											0													95.0	103.0	100.0					6																	26056108		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"""Histones / Replication-dependent"""	4716	protein-coding gene	gene with protein product		142710	"""H1 histone family, member 2"", ""histone 1, H1c"""	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.549G>A	6.37:g.26056108C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4I2	Silent	SNP	pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5	p.K183	ENST00000343677.2	37	c.549	CCDS4577.1	6																																																																																			HIST1H1C	-	prints_Histone_H5	ENSG00000187837		0.552	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1C	HGNC	protein_coding	OTTHUMT00000043372.1	105	0.00	0	C	NM_005319		26056108	26056108	-1	no_errors	ENST00000343677	ensembl	human	known	69_37n	silent	64	27.78	25	SNP	1.000	T
HIST1H1C	3006	genome.wustl.edu	37	6	26056153	26056153	+	Missense_Mutation	SNP	C	C	G	rs534420299		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:26056153C>G	ENST00000343677.2	-	1	546	c.504G>C	c.(502-504)aaG>aaC	p.K168N		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	168					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						TAGCCACTTTCTTGGTTACAG	0.572																																						dbGAP											0													94.0	108.0	103.0					6																	26056153		2203	4300	6503	-	-	-	SO:0001583	missense	0			X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"""Histones / Replication-dependent"""	4716	protein-coding gene	gene with protein product		142710	"""H1 histone family, member 2"", ""histone 1, H1c"""	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.504G>C	6.37:g.26056153C>G	ENSP00000339566:p.Lys168Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4I2	Missense_Mutation	SNP	pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5	p.K168N	ENST00000343677.2	37	c.504	CCDS4577.1	6	.	.	.	.	.	.	.	.	.	.	C	14.65	2.598340	0.46318	.	.	ENSG00000187837	ENST00000343677	T	0.23552	1.9	5.3	3.49	0.39957	.	0.320741	0.27366	N	0.019699	T	0.19525	0.0469	N	0.19112	0.55	0.58432	D	0.999999	D	0.76494	0.999	D	0.80764	0.994	T	0.02713	-1.1120	10	0.30854	T	0.27	-5.6891	11.719	0.51670	0.0:0.8524:0.0:0.1476	.	168	P16403	H12_HUMAN	N	168	ENSP00000339566:K168N	ENSP00000339566:K168N	K	-	3	2	HIST1H1C	26164132	1.000000	0.71417	1.000000	0.80357	0.578000	0.36192	2.333000	0.43912	0.708000	0.31955	0.650000	0.86243	AAG	HIST1H1C	-	prints_Histone_H5	ENSG00000187837		0.572	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1C	HGNC	protein_coding	OTTHUMT00000043372.1	105	0.00	0	C	NM_005319		26056153	26056153	-1	no_errors	ENST00000343677	ensembl	human	known	69_37n	missense	77	18.09	17	SNP	1.000	G
HIST1H1C	3006	genome.wustl.edu	37	6	26056210	26056210	+	Missense_Mutation	SNP	C	C	G	rs373340937		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:26056210C>G	ENST00000343677.2	-	1	489	c.447G>C	c.(445-447)aaG>aaC	p.K149N		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	149					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						TCTTAGCGCTCTTCTTCGGAG	0.572																																						dbGAP											0													71.0	85.0	80.0					6																	26056210		2202	4298	6500	-	-	-	SO:0001583	missense	0			X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"""Histones / Replication-dependent"""	4716	protein-coding gene	gene with protein product		142710	"""H1 histone family, member 2"", ""histone 1, H1c"""	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.447G>C	6.37:g.26056210C>G	ENSP00000339566:p.Lys149Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4I2	Missense_Mutation	SNP	pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5	p.K149N	ENST00000343677.2	37	c.447	CCDS4577.1	6	.	.	.	.	.	.	.	.	.	.	C	7.201	0.593471	0.13875	.	.	ENSG00000187837	ENST00000343677	T	0.16897	2.31	5.33	3.4	0.38934	.	0.343379	0.26065	N	0.026558	T	0.06280	0.0162	N	0.19112	0.55	0.40782	D	0.98318	D	0.56035	0.974	P	0.46585	0.521	T	0.26573	-1.0099	10	0.37606	T	0.19	-4.9672	9.8445	0.41019	0.0:0.8041:0.0:0.1959	.	149	P16403	H12_HUMAN	N	149	ENSP00000339566:K149N	ENSP00000339566:K149N	K	-	3	2	HIST1H1C	26164189	0.104000	0.21937	0.594000	0.28785	0.066000	0.16364	0.342000	0.19926	1.269000	0.44280	0.555000	0.69702	AAG	HIST1H1C	-	NULL	ENSG00000187837		0.572	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1C	HGNC	protein_coding	OTTHUMT00000043372.1	100	0.00	0	C	NM_005319		26056210	26056210	-1	no_errors	ENST00000343677	ensembl	human	known	69_37n	missense	60	18.92	14	SNP	0.676	G
HIST1H1D	3007	genome.wustl.edu	37	6	26234497	26234497	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:26234497C>T	ENST00000244534.5	-	1	719	c.665G>A	c.(664-666)tGa>tAa	p.*222*		NM_005320.2	NP_005311.1	P16402	H13_HUMAN	histone cluster 1, H1d	0					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				CCGCCAGTTTCACTTTTTCTT	0.522																																						dbGAP											0													57.0	63.0	61.0					6																	26234497		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M60747	CCDS4597.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000124575	ENSG00000124575		"""Histones / Replication-dependent"""	4717	protein-coding gene	gene with protein product		142210	"""H1 histone family, member 3"", ""histone 1, H1d"""	H1F3		1916825, 12408966	Standard	NM_005320		Approved	H1.3, H1d, H1s-2	uc003nhd.3	P16402	OTTHUMG00000014432	ENST00000244534.5:c.665G>A	6.37:g.26234497C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R751|Q2M2I2	Silent	SNP	pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5	p.*222	ENST00000244534.5	37	c.665	CCDS4597.1	6																																																																																			HIST1H1D	-	NULL	ENSG00000124575		0.522	HIST1H1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1D	HGNC	protein_coding	OTTHUMT00000040095.1	89	0.00	0	C	NM_005320		26234497	26234497	-1	no_errors	ENST00000244534	ensembl	human	known	69_37n	silent	57	20.83	15	SNP	0.002	T
HIST1H2BD	3017	genome.wustl.edu	37	6	26158660	26158660	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:26158660C>A	ENST00000289316.2	+	1	287	c.263C>A	c.(262-264)tCg>tAg	p.S88*	HIST1H2BD_ENST00000377777.4_Nonsense_Mutation_p.S88*	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	88					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						AACAAGCGCTCGACCATCACC	0.622																																						dbGAP											0													102.0	106.0	105.0					6																	26158660		2203	4297	6500	-	-	-	SO:0001587	stop_gained	0			M60751	CCDS4587.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000158373	ENSG00000158373		"""Histones / Replication-dependent"""	4747	protein-coding gene	gene with protein product		602799	"""H2B histone family, member B"", ""histone 1, H2bd"""	H2BFB		1916825, 12408966	Standard	NM_021063		Approved	H2B/b	uc003ngr.3	P58876	OTTHUMG00000014426	ENST00000289316.2:c.263C>A	6.37:g.26158660C>A	ENSP00000289316:p.Ser88*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.S88*	ENST00000289316.2	37	c.263	CCDS4587.1	6	.	.	.	.	.	.	.	.	.	.	.	35	5.570058	0.96540	.	.	ENSG00000158373	ENST00000377777;ENST00000289316	.	.	.	4.96	4.08	0.47627	.	0.000000	0.50627	D	0.000119	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.3794	0.55299	0.0:0.9158:0.0:0.0842	.	.	.	.	X	88	.	ENSP00000289316:S88X	S	+	2	0	HIST1H2BD	26266639	0.997000	0.39634	1.000000	0.80357	0.988000	0.76386	2.689000	0.46993	1.396000	0.46663	0.650000	0.86243	TCG	HIST1H2BD	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	ENSG00000158373		0.622	HIST1H2BD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BD	HGNC	protein_coding	OTTHUMT00000040088.1	96	0.00	0	C	NM_021063		26158660	26158660	+1	no_errors	ENST00000289316	ensembl	human	known	69_37n	nonsense	50	35.06	27	SNP	1.000	A
HIST1H2BH	8345	genome.wustl.edu	37	6	26252107	26252107	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:26252107G>A	ENST00000356350.2	+	1	229	c.229G>A	c.(229-231)Gag>Aag	p.E77K	HIST1H3F_ENST00000446824.2_5'Flank	NM_003524.2	NP_003515.1	Q93079	H2B1H_HUMAN	histone cluster 1, H2bh	77					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)	p.E77K(1)		NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						CATCGCCGGCGAGGCTTCCCG	0.592																																						dbGAP											1	Substitution - Missense(1)	lung(1)											104.0	106.0	105.0					6																	26252107		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z80781	CCDS4601.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000197459	ENSG00000275713		"""Histones / Replication-dependent"""	4755	protein-coding gene	gene with protein product		602806	"""H2B histone family, member J"", ""histone 1, H2bh"""	H2BFJ		9119399, 12408966	Standard	NM_003524		Approved	H2B/j	uc003nhh.3	Q93079	OTTHUMG00000014447	ENST00000356350.2:c.229G>A	6.37:g.26252107G>A	ENSP00000348706:p.Glu77Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R541|Q4VB74	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.E77K	ENST00000356350.2	37	c.229	CCDS4601.1	6	.	.	.	.	.	.	.	.	.	.	.	22.5	4.292564	0.80914	.	.	ENSG00000197459	ENST00000356350	T	0.34472	1.36	4.65	4.65	0.58169	Histone-fold (2);Histone core (1);	.	.	.	.	T	0.62319	0.2418	H	0.95780	3.72	0.42567	D	0.993161	D	0.67145	0.996	P	0.58970	0.849	T	0.74639	-0.3598	9	0.54805	T	0.06	.	17.3874	0.87420	0.0:0.0:1.0:0.0	.	77	Q93079	H2B1H_HUMAN	K	77	ENSP00000348706:E77K	ENSP00000348706:E77K	E	+	1	0	HIST1H2BH	26360086	1.000000	0.71417	0.997000	0.53966	0.004000	0.04260	7.667000	0.83888	2.513000	0.84729	0.591000	0.81541	GAG	HIST1H2BH	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	ENSG00000197459		0.592	HIST1H2BH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BH	HGNC	protein_coding	OTTHUMT00000040110.1	98	0.00	0	G	NM_003524		26252107	26252107	+1	no_errors	ENST00000356350	ensembl	human	known	69_37n	missense	38	56.32	49	SNP	1.000	A
HIST1H2BK	85236	genome.wustl.edu	37	6	27114200	27114200	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:27114200C>G	ENST00000356950.1	-	1	377	c.378G>C	c.(376-378)aaG>aaC	p.K126N	HIST1H2AH_ENST00000377459.1_5'Flank|HIST1H2BK_ENST00000396891.4_Missense_Mutation_p.K126N|MIR3143_ENST00000584253.1_RNA			O60814	H2B1K_HUMAN	histone cluster 1, H2bk	126					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						GGCAAGTTTACTTAGCGCTGG	0.542																																						dbGAP											0													82.0	89.0	87.0					6																	27114200		2202	4299	6501	-	-	-	SO:0001583	missense	0			AJ223352	CCDS4621.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000197903	ENSG00000197903		"""Histones / Replication-dependent"""	13954	protein-coding gene	gene with protein product		615045	"""H2B histone family, member T"", ""histone 1, H2bk"""	H2BFT		12408966	Standard	NM_080593		Approved	H2BFAiii	uc003nix.2	O60814	OTTHUMG00000014473	ENST00000356950.1:c.378G>C	6.37:g.27114200C>G	ENSP00000349430:p.Lys126Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7P7|Q2VPI7	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.K126N	ENST00000356950.1	37	c.378	CCDS4621.1	6	.	.	.	.	.	.	.	.	.	.	.	22.7	4.320566	0.81469	.	.	ENSG00000197903	ENST00000396891;ENST00000356950	T;T	0.29917	1.55;1.55	3.96	3.96	0.45880	Histone-fold (2);	0.000000	0.39834	U	0.001250	T	0.40839	0.1133	M	0.66297	2.02	0.36090	D	0.843388	D	0.69078	0.997	P	0.62014	0.897	T	0.47497	-0.9113	10	0.87932	D	0	.	14.3179	0.66465	0.0:1.0:0.0:0.0	.	126	O60814	H2B1K_HUMAN	N	126	ENSP00000380100:K126N;ENSP00000349430:K126N	ENSP00000349430:K126N	K	-	3	2	HIST1H2BK	27222179	1.000000	0.71417	0.993000	0.49108	0.836000	0.47400	5.367000	0.66127	2.148000	0.66965	0.585000	0.79938	AAG	HIST1H2BK	-	superfamily_Histone-fold	ENSG00000197903		0.542	HIST1H2BK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BK	HGNC	protein_coding	OTTHUMT00000040141.1	118	0.00	0	C	NM_080593		27114200	27114200	-1	no_errors	ENST00000356950	ensembl	human	known	69_37n	missense	73	17.05	15	SNP	1.000	G
HIST1H2AH	85235	genome.wustl.edu	37	6	27115004	27115004	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:27115004C>T	ENST00000377459.1	+	1	144	c.97C>T	c.(97-99)Cgc>Tgc	p.R33C	HIST1H2BK_ENST00000396891.4_5'Flank|MIR3143_ENST00000584253.1_RNA|HIST1H2BK_ENST00000356950.1_5'Flank	NM_080596.1	NP_542163.1	Q96KK5	H2A1H_HUMAN	histone cluster 1, H2ah	33						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1)	12						CCGAGTGCACCGCCTGCTCCG	0.647																																						dbGAP											0													46.0	51.0	49.0					6																	27115004		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY131988	CCDS4622.1	6p22.1	2011-01-27	2006-10-11			ENSG00000274997		"""Histones / Replication-dependent"""	13671	protein-coding gene	gene with protein product		615013	"""histone 1, H2ah"""			12408966	Standard	NM_080596		Approved	H2AFALii, dJ86C11.1, H2A/S	uc003niz.4	Q96KK5		ENST00000377459.1:c.97C>T	6.37:g.27115004C>T	ENSP00000366679:p.Arg33Cys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.R33C	ENST00000377459.1	37	c.97	CCDS4622.1	6	.	.	.	.	.	.	.	.	.	.	C	11.78	1.740715	0.30865	.	.	ENSG00000184825	ENST00000377459	T	0.77750	-1.12	3.95	3.95	0.45737	Histone-fold (2);Histone core (1);Histone H2A (2);	0.000000	0.40554	N	0.001076	D	0.91119	0.7204	H	0.98155	4.16	0.45899	D	0.99874	D	0.89917	1.0	D	0.76575	0.988	D	0.93962	0.7241	10	0.87932	D	0	.	14.3093	0.66405	0.0:1.0:0.0:0.0	.	33	Q96KK5	H2A1H_HUMAN	C	33	ENSP00000366679:R33C	ENSP00000366679:R33C	R	+	1	0	HIST1H2AH	27222983	1.000000	0.71417	0.952000	0.39060	0.008000	0.06430	3.411000	0.52672	2.142000	0.66516	0.655000	0.94253	CGC	HIST1H2AH	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	ENSG00000184825		0.647	HIST1H2AH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AH	HGNC	protein_coding	OTTHUMT00000040136.1	77	0.00	0	C	NM_080596		27115004	27115004	+1	no_errors	ENST00000377459	ensembl	human	known	69_37n	missense	43	25.86	15	SNP	1.000	T
HIST1H4B	8366	genome.wustl.edu	37	6	26027258	26027258	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:26027258C>A	ENST00000377364.3	-	1	222	c.223G>T	c.(223-225)Gag>Tag	p.E75*		NM_003544.2	NP_003535.1	P62805	H4_HUMAN	histone cluster 1, H4b	75					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						TTGGCGTGCTCCGTGTAGGTC	0.542											OREG0017238	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													112.0	94.0	100.0					6																	26027258		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			X67081	CCDS4572.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000124529	ENSG00000278705		"""Histones / Replication-dependent"""	4789	protein-coding gene	gene with protein product		602829	"""H4 histone family, member I"", ""histone 1, H4b"""	H4FI		9119399, 12408966	Standard	NM_003544		Approved	H4/I	uc003nfr.3	P62805	OTTHUMG00000014417	ENST00000377364.3:c.223G>T	6.37:g.26027258C>A	ENSP00000366581:p.Glu75*	Somatic	783	WXS	Illumina GAIIx	Phase_IV	A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Nonsense_Mutation	SNP	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	p.E75*	ENST00000377364.3	37	c.223	CCDS4572.1	6	.	.	.	.	.	.	.	.	.	.	c	15.70	2.910915	0.52439	.	.	ENSG00000124529	ENST00000377364	.	.	.	4.65	4.65	0.58169	.	0.000000	0.53938	U	0.000051	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	17.4106	0.87484	0.0:1.0:0.0:0.0	.	.	.	.	X	75	.	ENSP00000366581:E75X	E	-	1	0	HIST1H4B	26135237	1.000000	0.71417	0.996000	0.52242	0.220000	0.24768	7.393000	0.79851	2.506000	0.84524	0.563000	0.77884	GAG	HIST1H4B	-	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	ENSG00000124529		0.542	HIST1H4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H4B	HGNC	protein_coding	OTTHUMT00000040079.2	71	0.00	0	C	NM_003544		26027258	26027258	-1	no_errors	ENST00000377364	ensembl	human	known	69_37n	nonsense	52	26.76	19	SNP	1.000	A
HIST1H3C	8352	genome.wustl.edu	37	6	26045645	26045645	+	Missense_Mutation	SNP	C	C	G	rs375724815		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:26045645C>G	ENST00000540144.1	+	1	7	c.7C>G	c.(7-9)Cgt>Ggt	p.R3G	HIST1H2BB_ENST00000357905.2_5'Flank	NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	3					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)	p.R3G(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						GCAAATGGCTCGTACGAAGCA	0.502																																						dbGAP											1	Substitution - Missense(1)	ovary(1)											50.0	53.0	52.0					6																	26045645		2203	4298	6501	-	-	-	SO:0001583	missense	0			X57128	CCDS4576.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196532	ENSG00000278272		"""Histones / Replication-dependent"""	4768	protein-coding gene	gene with protein product		602812	"""H3 histone family, member C"", ""histone 1, H3c"""	H3FC		8227173, 9119399, 12408966	Standard	NM_003531		Approved	H3/c, H3.1	uc003nfv.3	P68431	OTTHUMG00000014416	ENST00000540144.1:c.7C>G	6.37:g.26045645C>G	ENSP00000439493:p.Arg3Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.R3G	ENST00000540144.1	37	c.7	CCDS4576.1	6	.	.	.	.	.	.	.	.	.	.	C	10.88	1.474620	0.26511	.	.	ENSG00000196532	ENST00000540144	T	0.46451	0.87	4.67	4.67	0.58626	.	.	.	.	.	T	0.51483	0.1677	.	.	.	0.34843	D	0.740854	.	.	.	.	.	.	T	0.58059	-0.7703	6	0.66056	D	0.02	.	17.4292	0.87534	0.0:1.0:0.0:0.0	.	.	.	.	G	3	ENSP00000439493:R3G	ENSP00000439493:R3G	R	+	1	0	HIST1H3C	26153624	0.775000	0.28604	1.000000	0.80357	0.197000	0.23852	1.462000	0.35266	2.529000	0.85273	0.591000	0.81541	CGT	HIST1H3C	-	superfamily_Histone-fold,prints_Histone_H3	ENSG00000196532		0.502	HIST1H3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3C	HGNC	protein_coding	OTTHUMT00000040078.1	29	0.00	0	C	NM_003531		26045645	26045645	+1	no_errors	ENST00000540144	ensembl	human	known	69_37n	missense	16	36.00	9	SNP	1.000	G
HIST1H4E	8367	genome.wustl.edu	37	6	26205070	26205070	+	Silent	SNP	G	G	T	rs145407769	byFrequency	TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:26205070G>T	ENST00000360441.4	+	1	213	c.198G>T	c.(196-198)gtG>gtT	p.V66V		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	66					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)	p.V66V(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				TGGAAAACGTGATTCGTGATG	0.567																																						dbGAP											1	Substitution - coding silent(1)	ovary(1)											140.0	125.0	130.0					6																	26205070		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Z80787	CCDS4593.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198518	ENSG00000276966		"""Histones / Replication-dependent"""	4790	protein-coding gene	gene with protein product		602830	"""H4 histone family, member J"", ""histone 1, H4e"""	H4FJ		9119399, 12408966	Standard	NM_003545		Approved	H4/j	uc003ngy.3	P62805	OTTHUMG00000014441	ENST00000360441.4:c.198G>T	6.37:g.26205070G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Silent	SNP	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	p.V66	ENST00000360441.4	37	c.198	CCDS4593.1	6																																																																																			HIST1H4E	-	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	ENSG00000198518		0.567	HIST1H4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H4E	HGNC	protein_coding	OTTHUMT00000040104.1	134	0.00	0	G	NM_003545		26205070	26205070	+1	no_errors	ENST00000360441	ensembl	human	known	69_37n	silent	92	20.69	24	SNP	0.875	T
HIST1H3F	8968	genome.wustl.edu	37	6	26250515	26250515	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:26250515C>T	ENST00000446824.2	-	1	320	c.319G>A	c.(319-321)Gac>Aac	p.D107N	HIST1H2BH_ENST00000356350.2_5'Flank	NM_021018.2	NP_066298.1	P68431	H31_HUMAN	histone cluster 1, H3f	107					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			lung(6)|urinary_tract(1)	7						AGGTTGGTGTCCTCAAAGAGC	0.597											OREG0017241	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													104.0	101.0	102.0					6																	26250515		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z80786	CCDS4600.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000256316	ENSG00000277775		"""Histones / Replication-dependent"""	4773	protein-coding gene	gene with protein product		602816	"""H3 histone family, member I"", ""histone 1, H3f"""	H3FI		9119399, 12408966	Standard	NM_021018		Approved	H3/i	uc003nhg.1	P68431	OTTHUMG00000014435	ENST00000446824.2:c.319G>A	6.37:g.26250515C>T	ENSP00000444823:p.Asp107Asn	Somatic	785	WXS	Illumina GAIIx	Phase_IV	A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.D107N	ENST00000446824.2	37	c.319	CCDS4600.1	6	.	.	.	.	.	.	.	.	.	.	.	17.66	3.444688	0.63178	.	.	ENSG00000256316	ENST00000446824	T	0.54279	0.58	4.82	4.82	0.62117	.	.	.	.	.	T	0.64832	0.2634	.	.	.	0.48135	D	0.999592	.	.	.	.	.	.	T	0.68842	-0.5302	6	0.72032	D	0.01	.	17.7536	0.88442	0.0:1.0:0.0:0.0	.	.	.	.	N	107	ENSP00000444823:D107N	ENSP00000444823:D107N	D	-	1	0	HIST1H3F	26358494	1.000000	0.71417	1.000000	0.80357	0.224000	0.24922	7.666000	0.83877	2.602000	0.87976	0.561000	0.74099	GAC	HIST1H3F	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	ENSG00000256316		0.597	HIST1H3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3F	HGNC	protein_coding	OTTHUMT00000040098.1	68	0.00	0	C	NM_021018		26250515	26250515	-1	no_errors	ENST00000446824	ensembl	human	known	69_37n	missense	72	30.10	31	SNP	1.000	T
HIST1H3H	8357	genome.wustl.edu	37	6	27778004	27778004	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:27778004G>A	ENST00000369163.2	+	1	163	c.153G>A	c.(151-153)gaG>gaA	p.E51E	HIST1H2BL_ENST00000377401.2_5'Flank	NM_003536.2	NP_003527.1	P68431	H31_HUMAN	histone cluster 1, H3h	51					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)|upper_aerodigestive_tract(3)	10						CTCTCCGCGAGATTCGCCGCT	0.627																																						dbGAP											0													54.0	54.0	54.0					6																	27778004		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Z83735	CCDS4627.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000203813	ENSG00000278828		"""Histones / Replication-dependent"""	4775	protein-coding gene	gene with protein product		602818	"""H3 histone family, member K"", ""histone 1, H3h"""	H3FK		9439656, 12408966	Standard	NM_003536		Approved	H3/k, H3F1K	uc003njm.3	P68431	OTTHUMG00000014483	ENST00000369163.2:c.153G>A	6.37:g.27778004G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Silent	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.E51	ENST00000369163.2	37	c.153	CCDS4627.1	6																																																																																			HIST1H3H	-	superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	ENSG00000203813		0.627	HIST1H3H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3H	HGNC	protein_coding	OTTHUMT00000040151.1	66	0.00	0	G	NM_003536		27778004	27778004	+1	no_errors	ENST00000369163	ensembl	human	known	69_37n	silent	38	33.33	19	SNP	1.000	A
HIST1H4K	8362	genome.wustl.edu	37	6	27798995	27798995	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:27798995C>T	ENST00000357549.2	-	1	310	c.311G>A	c.(310-312)tGa>tAa	p.*104*		NM_003541.2	NP_003532.1	P62805	H4_HUMAN	histone cluster 1, H4k	0					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1)	7						AAGGGACGCTCAACCACCGAA	0.552																																						dbGAP											0													37.0	40.0	39.0					6																	27798995		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X60483	CCDS4631.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197914	ENSG00000273542		"""Histones / Replication-dependent"""	4784	protein-coding gene	gene with protein product		602825	"""H4 histone family, member D"", ""histone 1, H4k"""	H4FD		9439656, 12408966	Standard	NM_003541		Approved	H4/d, H4F2iii, dJ160A22.1	uc003njr.3	P62805	OTTHUMG00000014488	ENST00000357549.2:c.311G>A	6.37:g.27798995C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Silent	SNP	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	p.*104	ENST00000357549.2	37	c.311	CCDS4631.1	6																																																																																			HIST1H4K	-	NULL	ENSG00000197914		0.552	HIST1H4K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H4K	HGNC	protein_coding	OTTHUMT00000040156.1	43	0.00	0	C	NM_003541		27798995	27798995	-1	no_errors	ENST00000357549	ensembl	human	known	69_37n	silent	31	20.51	8	SNP	0.004	T
HIST1H2BO	8348	genome.wustl.edu	37	6	27861394	27861394	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:27861394G>A	ENST00000303806.4	+	1	192	c.154G>A	c.(154-156)Gac>Aac	p.D52N	HIST1H2AM_ENST00000359611.2_5'Flank|HIST1H3J_ENST00000479986.1_5'Flank|HIST1H3J_ENST00000359303.2_5'Flank	NM_003527.4	NP_003518.2	P23527	H2B1O_HUMAN	histone cluster 1, H2bo	52					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)										AGTCCACCCCGACACCGGCAT	0.552																																						dbGAP											0													162.0	146.0	152.0					6																	27861394		2203	4300	6503	-	-	-	SO:0001583	missense	0			X57138	CCDS4640.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000196331			"""Histones / Replication-dependent"""	4758	protein-coding gene	gene with protein product		602808	"""H2B histone family, member N"", ""histone 1, H2bo"""	H2BFN		1768865, 12408966	Standard	NM_003527		Approved	H2B/n, H2B.2	uc003nkc.1	P23527	OTTHUMG00000014493	ENST00000303806.4:c.154G>A	6.37:g.27861394G>A	ENSP00000303408:p.Asp52Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3KPI7|Q8TCV6	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.D52N	ENST00000303806.4	37	c.154	CCDS4640.1	6	.	.	.	.	.	.	.	.	.	.	G	23.6	4.433354	0.83776	.	.	ENSG00000196331	ENST00000303806	T	0.21734	1.99	3.55	3.55	0.40652	Histone-fold (2);Histone core (1);	.	.	.	.	T	0.26268	0.0641	M	0.75884	2.315	0.47374	D	0.999405	D	0.55385	0.971	P	0.50590	0.645	T	0.16100	-1.0414	9	0.87932	D	0	.	14.9186	0.70818	0.0:0.0:1.0:0.0	.	52	P23527	H2B1O_HUMAN	N	52	ENSP00000303408:D52N	ENSP00000303408:D52N	D	+	1	0	HIST1H2BO	27969373	1.000000	0.71417	1.000000	0.80357	0.487000	0.33371	7.209000	0.77916	2.275000	0.75901	0.561000	0.74099	GAC	HIST1H2BO	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	ENSG00000196331		0.552	HIST1H2BO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BO	HGNC	protein_coding	OTTHUMT00000040161.1	166	0.00	0	G	NM_003527		27861394	27861394	+1	no_errors	ENST00000303806	ensembl	human	known	69_37n	missense	102	19.05	24	SNP	1.000	A
HIST2H2BF	440689	genome.wustl.edu	37	1	149783669	149783669	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:149783669G>C	ENST00000369167.1	-	1	245	c.210C>G	c.(208-210)atC>atG	p.I70M	HIST2H2BF_ENST00000469483.1_5'UTR|HIST2H2BF_ENST00000545683.1_Missense_Mutation_p.I70M|HIST2H2BF_ENST00000427880.2_Missense_Mutation_p.I70M|RP11-196G18.21_ENST00000420462.1_RNA	NM_001024599.4	NP_001019770.1	Q5QNW6	H2B2F_HUMAN	histone cluster 2, H2bf	70					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)					TGCGCTCGAAGATGTCGTTGA	0.622																																						dbGAP											0													78.0	70.0	73.0					1																	149783669		2202	4278	6480	-	-	-	SO:0001583	missense	0			BC110793	CCDS30846.1, CCDS53359.1	1q21.2	2013-06-03	2006-10-11		ENSG00000203814	ENSG00000203814		"""Histones / Replication-dependent"""	24700	protein-coding gene	gene with protein product			"""histone 2, H2bf"""				Standard	NM_001161334		Approved		uc010pbj.2	Q5QNW6	OTTHUMG00000183159	ENST00000369167.1:c.210C>G	1.37:g.149783669G>C	ENSP00000358164:p.Ile70Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0U9|B4DLA9	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.I70M	ENST00000369167.1	37	c.210	CCDS30846.1	1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.819774	0.50633	.	.	ENSG00000203814	ENST00000545683;ENST00000427880;ENST00000369167	T;T;T	0.68479	-0.33;-0.33;-0.33	3.52	-0.461	0.12172	Histone-fold (2);Histone core (1);	0.000000	0.49305	D	0.000154	T	0.65450	0.2692	M	0.76328	2.33	0.32329	N	0.561284	D;D;D	0.76494	0.999;0.996;0.963	D;D;D	0.79108	0.992;0.985;0.914	T	0.62426	-0.6857	10	0.87932	D	0	.	4.8144	0.13360	0.3718:0.1522:0.476:0.0	.	70;70;70	B4DR52;B4DLA9;Q5QNW6	.;.;H2B2F_HUMAN	M	70	ENSP00000445831:I70M;ENSP00000407461:I70M;ENSP00000358164:I70M	ENSP00000358164:I70M	I	-	3	3	HIST2H2BF	148050293	1.000000	0.71417	0.997000	0.53966	0.597000	0.36814	2.595000	0.46197	-0.070000	0.12908	0.184000	0.17185	ATC	HIST2H2BF	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	ENSG00000203814		0.622	HIST2H2BF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST2H2BF	HGNC	protein_coding	OTTHUMT00000033453.2	124	0.00	0	G	NM_001024599		149783669	149783669	-1	no_errors	ENST00000427880	ensembl	human	known	69_37n	missense	149	20.74	39	SNP	1.000	C
HIST2H2AC	8338	genome.wustl.edu	37	1	149858749	149858749	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:149858749G>C	ENST00000331380.2	+	1	225	c.225G>C	c.(223-225)aaG>aaC	p.K75N	BOLA1_ENST00000369153.2_5'Flank|HIST2H2BE_ENST00000369155.2_5'Flank	NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	75						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GGGACAACAAGAAGACGCGCA	0.667																																						dbGAP											0													51.0	53.0	53.0					1																	149858749		2203	4297	6500	-	-	-	SO:0001583	missense	0			AY131973	CCDS937.1	1q21.2	2011-01-27	2006-10-11	2003-02-21	ENSG00000184260	ENSG00000184260		"""Histones / Replication-dependent"""	4738	protein-coding gene	gene with protein product		602797	"""H2A histone family, member Q"", ""histone 2, H2ac"""	H2A, H2AFQ		1469070, 9439656, 12408966	Standard	NM_003517		Approved	H2A/q	uc001etd.3	Q16777	OTTHUMG00000035825	ENST00000331380.2:c.225G>C	1.37:g.149858749G>C	ENSP00000332194:p.Lys75Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6DRA7|Q8IUE5	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.K75N	ENST00000331380.2	37	c.225	CCDS937.1	1	.	.	.	.	.	.	.	.	.	.	G	12.21	1.870662	0.33069	.	.	ENSG00000184260	ENST00000331380	T	0.75050	-0.9	5.81	1.37	0.22104	Histone-fold (2);Histone core (1);Histone H2A (2);	0.000000	0.46442	D	0.000286	D	0.82852	0.5127	M	0.90425	3.115	0.38053	D	0.935831	D	0.71674	0.998	D	0.77557	0.99	D	0.84875	0.0827	10	0.66056	D	0.02	.	11.0469	0.47863	0.3059:0.0:0.6941:0.0	.	75	Q16777	H2A2C_HUMAN	N	75	ENSP00000332194:K75N	ENSP00000332194:K75N	K	+	3	2	HIST2H2AC	148125373	1.000000	0.71417	1.000000	0.80357	0.341000	0.28922	3.248000	0.51430	0.391000	0.25143	-0.136000	0.14681	AAG	HIST2H2AC	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	ENSG00000184260		0.667	HIST2H2AC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST2H2AC	HGNC	protein_coding	OTTHUMT00000087128.1	103	0.00	0	G	NM_003517		149858749	149858749	+1	no_errors	ENST00000331380	ensembl	human	known	69_37n	missense	58	28.40	23	SNP	1.000	C
HIST3H2A	92815	genome.wustl.edu	37	1	228645350	228645350	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:228645350C>G	ENST00000366695.2	-	1	210	c.169G>C	c.(169-171)Gag>Cag	p.E57Q	HIST3H2BB_ENST00000369160.2_5'Flank	NM_033445.2	NP_254280.1	Q7L7L0	H2A3_HUMAN	histone cluster 3, H2a	57					nucleosome disassembly (GO:0006337)|UV-damage excision repair (GO:0070914)	extracellular vesicular exosome (GO:0070062)|nuclear nucleosome (GO:0000788)	DNA binding (GO:0003677)			endometrium(1)|lung(3)|ovary(1)	5		Prostate(94;0.183)				GTCAAGTACTCGAGCACCGCG	0.687																																						dbGAP											0													37.0	37.0	37.0					1																	228645350		2202	4299	6501	-	-	-	SO:0001583	missense	0			AY131974	CCDS1573.1	1q42.13	2011-01-27	2006-10-11		ENSG00000181218	ENSG00000181218		"""Histones / Replication-dependent"""	20507	protein-coding gene	gene with protein product		615015	"""histone 3, H2a"""			12408966	Standard	NM_033445		Approved	MGC3165	uc001hsy.3	Q7L7L0	OTTHUMG00000040046	ENST00000366695.2:c.169G>C	1.37:g.228645350C>G	ENSP00000355656:p.Glu57Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R4S4	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.E57Q	ENST00000366695.2	37	c.169	CCDS1573.1	1	.	.	.	.	.	.	.	.	.	.	.	13.29	2.192445	0.38707	.	.	ENSG00000181218	ENST00000366695	T	0.61859	0.07	4.07	3.13	0.36017	Histone-fold (2);Histone core (1);Histone H2A (2);	0.000000	0.48767	D	0.000174	T	0.82185	0.4982	H	0.96970	3.915	0.36270	D	0.855126	D	0.89917	1.0	D	0.97110	1.0	D	0.89287	0.3616	10	0.87932	D	0	.	11.8956	0.52654	0.0:0.8219:0.1781:0.0	.	57	Q7L7L0	H2A3_HUMAN	Q	57	ENSP00000355656:E57Q	ENSP00000355656:E57Q	E	-	1	0	HIST3H2A	226711973	0.999000	0.42202	0.852000	0.33557	0.003000	0.03518	4.333000	0.59285	1.253000	0.44018	0.655000	0.94253	GAG	HIST3H2A	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	ENSG00000181218		0.687	HIST3H2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST3H2A	HGNC	protein_coding	OTTHUMT00000096598.1	60	0.00	0	C	NM_033445		228645350	228645350	-1	no_errors	ENST00000366695	ensembl	human	known	69_37n	missense	52	21.21	14	SNP	1.000	G
HIVEP1	3096	genome.wustl.edu	37	6	12161807	12161807	+	Nonsense_Mutation	SNP	C	C	A	rs370190148		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:12161807C>A	ENST00000379388.2	+	8	6955	c.6623C>A	c.(6622-6624)tCa>tAa	p.S2208*	HIVEP1_ENST00000541134.1_Nonsense_Mutation_p.S73*	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2208					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GCCACACCCTCAGTCACAGCT	0.502																																						dbGAP											0													73.0	82.0	79.0					6																	12161807		2128	4251	6379	-	-	-	SO:0001587	stop_gained	0			J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.6623C>A	6.37:g.12161807C>A	ENSP00000368698:p.Ser2208*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTU3|Q14122|Q5MPB1|Q5VW60	Nonsense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S2208*	ENST00000379388.2	37	c.6623	CCDS43426.1	6	.	.	.	.	.	.	.	.	.	.	C	19.13	3.768652	0.69878	.	.	ENSG00000095951	ENST00000379388;ENST00000442081;ENST00000541134;ENST00000542327	.	.	.	5.77	5.77	0.91146	.	0.000000	0.32175	N	0.006469	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.5971	19.9827	0.97334	0.0:1.0:0.0:0.0	.	.	.	.	X	2208;135;73;190	.	ENSP00000368698:S2208X	S	+	2	0	HIVEP1	12269793	1.000000	0.71417	0.875000	0.34327	0.020000	0.10135	5.402000	0.66332	2.728000	0.93425	0.655000	0.94253	TCA	HIVEP1	-	NULL	ENSG00000095951		0.502	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP1	HGNC	protein_coding	OTTHUMT00000039870.2	49	0.00	0	C	NM_002114		12161807	12161807	+1	no_errors	ENST00000379388	ensembl	human	known	69_37n	nonsense	49	14.04	8	SNP	0.999	A
HIVEP3	59269	genome.wustl.edu	37	1	41979293	41979293	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:41979293C>G	ENST00000372583.1	-	8	6484	c.5599G>C	c.(5599-5601)Gag>Cag	p.E1867Q	HIVEP3_ENST00000247584.5_Missense_Mutation_p.E1867Q|HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000429157.2_Missense_Mutation_p.E1867Q|HIVEP3_ENST00000372584.1_Missense_Mutation_p.E1867Q	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1867	Acidic 3.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CTCTCCTCCTCATCCTCATCC	0.632																																						dbGAP											0													47.0	52.0	50.0					1																	41979293		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.5599G>C	1.37:g.41979293C>G	ENSP00000361664:p.Glu1867Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E1867Q	ENST00000372583.1	37	c.5599	CCDS463.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.195189	0.94960	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.08546	3.1;3.08;3.08;3.1	5.52	5.52	0.82312	.	0.000000	0.45867	D	0.000338	T	0.20981	0.0505	L	0.32530	0.975	0.49389	D	0.99978	D;D	0.76494	0.999;0.999	D;D	0.74674	0.984;0.965	T	0.00525	-1.1689	10	0.51188	T	0.08	-17.9594	19.0405	0.92997	0.0:1.0:0.0:0.0	.	1867;1867	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	Q	1867	ENSP00000361665:E1867Q;ENSP00000361664:E1867Q;ENSP00000247584:E1867Q;ENSP00000410828:E1867Q	ENSP00000247584:E1867Q	E	-	1	0	HIVEP3	41751880	1.000000	0.71417	0.988000	0.46212	0.938000	0.57974	5.296000	0.65698	2.586000	0.87340	0.655000	0.94253	GAG	HIVEP3	-	NULL	ENSG00000127124		0.632	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HIVEP3	HGNC	protein_coding	OTTHUMT00000016978.1	56	0.00	0	C	NM_024503		41979293	41979293	-1	no_errors	ENST00000247584	ensembl	human	known	69_37n	missense	55	13.85	9	SNP	1.000	G
HIVEP3	59269	genome.wustl.edu	37	1	42047347	42047347	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:42047347C>G	ENST00000372583.1	-	4	4007	c.3122G>C	c.(3121-3123)aGa>aCa	p.R1041T	HIVEP3_ENST00000247584.5_Missense_Mutation_p.R1041T|HIVEP3_ENST00000460604.1_5'Flank|HIVEP3_ENST00000429157.2_Missense_Mutation_p.R1041T|HIVEP3_ENST00000372584.1_Missense_Mutation_p.R1041T	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1041	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GAAGCATTTTCTTCTCTCTGG	0.592																																						dbGAP											0													42.0	48.0	46.0					1																	42047347		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.3122G>C	1.37:g.42047347C>G	ENSP00000361664:p.Arg1041Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R1041T	ENST00000372583.1	37	c.3122	CCDS463.1	1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.469010	0.63625	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	4.89	4.89	0.63831	.	0.000000	0.52532	D	0.000064	T	0.65217	0.2670	M	0.73598	2.24	0.46542	D	0.999098	D;D	0.76494	0.999;0.999	D;D	0.71414	0.973;0.941	T	0.69405	-0.5154	10	0.72032	D	0.01	3.303	17.8472	0.88733	0.0:1.0:0.0:0.0	.	1041;1041	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	T	1041	ENSP00000361665:R1041T;ENSP00000361664:R1041T;ENSP00000247584:R1041T;ENSP00000410828:R1041T	ENSP00000247584:R1041T	R	-	2	0	HIVEP3	41819934	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.797000	0.62503	2.538000	0.85594	0.462000	0.41574	AGA	HIVEP3	-	NULL	ENSG00000127124		0.592	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HIVEP3	HGNC	protein_coding	OTTHUMT00000016978.1	54	0.00	0	C	NM_024503		42047347	42047347	-1	no_errors	ENST00000247584	ensembl	human	known	69_37n	missense	48	26.15	17	SNP	1.000	G
HIVEP3	59269	genome.wustl.edu	37	1	42047774	42047774	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:42047774C>G	ENST00000372583.1	-	4	3580	c.2695G>C	c.(2695-2697)Gag>Cag	p.E899Q	HIVEP3_ENST00000247584.5_Missense_Mutation_p.E899Q|HIVEP3_ENST00000460604.1_5'Flank|HIVEP3_ENST00000429157.2_Missense_Mutation_p.E899Q|HIVEP3_ENST00000372584.1_Missense_Mutation_p.E899Q	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	899	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGCAGCTTCTCAGCTGGGAGC	0.622																																						dbGAP											0													60.0	69.0	66.0					1																	42047774		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.2695G>C	1.37:g.42047774C>G	ENSP00000361664:p.Glu899Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E899Q	ENST00000372583.1	37	c.2695	CCDS463.1	1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.310158	0.81358	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.60424	0.19;0.19;0.19;0.19	4.95	4.95	0.65309	.	0.000000	0.50627	D	0.000104	T	0.76630	0.4014	M	0.76727	2.345	0.58432	D	0.999994	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.79678	-0.1703	10	0.87932	D	0	-2.8812	17.9567	0.89072	0.0:1.0:0.0:0.0	.	899;899	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	Q	899	ENSP00000361665:E899Q;ENSP00000361664:E899Q;ENSP00000247584:E899Q;ENSP00000410828:E899Q	ENSP00000247584:E899Q	E	-	1	0	HIVEP3	41820361	1.000000	0.71417	0.952000	0.39060	0.719000	0.41307	7.639000	0.83342	2.562000	0.86427	0.462000	0.41574	GAG	HIVEP3	-	NULL	ENSG00000127124		0.622	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HIVEP3	HGNC	protein_coding	OTTHUMT00000016978.1	67	0.00	0	C	NM_024503		42047774	42047774	-1	no_errors	ENST00000247584	ensembl	human	known	69_37n	missense	62	26.19	22	SNP	1.000	G
HIVEP3	59269	genome.wustl.edu	37	1	42048590	42048590	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:42048590C>T	ENST00000372583.1	-	4	2764	c.1879G>A	c.(1879-1881)Gag>Aag	p.E627K	HIVEP3_ENST00000247584.5_Missense_Mutation_p.E627K|HIVEP3_ENST00000429157.2_Missense_Mutation_p.E627K|HIVEP3_ENST00000372584.1_Missense_Mutation_p.E627K	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	627	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TTGGTAAGCTCGCTTTCCTTG	0.488																																						dbGAP											0													118.0	116.0	116.0					1																	42048590		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.1879G>A	1.37:g.42048590C>T	ENSP00000361664:p.Glu627Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E627K	ENST00000372583.1	37	c.1879	CCDS463.1	1	.	.	.	.	.	.	.	.	.	.	C	4.436	0.080631	0.08533	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.14640	2.49;2.49;2.49;2.49	4.47	4.47	0.54385	.	0.357613	0.24132	N	0.041246	T	0.10809	0.0264	L	0.43152	1.355	0.26099	N	0.980842	P;P	0.44946	0.846;0.76	B;B	0.33339	0.162;0.078	T	0.29971	-0.9994	10	0.15066	T	0.55	-1.5388	16.914	0.86147	0.0:1.0:0.0:0.0	.	627;627	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	K	627	ENSP00000361665:E627K;ENSP00000361664:E627K;ENSP00000247584:E627K;ENSP00000410828:E627K	ENSP00000247584:E627K	E	-	1	0	HIVEP3	41821177	1.000000	0.71417	0.938000	0.37757	0.517000	0.34286	3.599000	0.54045	2.326000	0.78906	0.555000	0.69702	GAG	HIVEP3	-	NULL	ENSG00000127124		0.488	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HIVEP3	HGNC	protein_coding	OTTHUMT00000016978.1	91	0.00	0	C	NM_024503		42048590	42048590	-1	no_errors	ENST00000247584	ensembl	human	known	69_37n	missense	73	27.72	28	SNP	1.000	T
HLTF	6596	genome.wustl.edu	37	3	148782631	148782631	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:148782631G>C	ENST00000310053.5	-	9	1206	c.1013C>G	c.(1012-1014)tCt>tGt	p.S338C	HLTF_ENST00000465259.1_Missense_Mutation_p.S338C|HLTF_ENST00000392912.2_Missense_Mutation_p.S338C|HLTF_ENST00000494055.1_Missense_Mutation_p.S338C	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	338					chromatin modification (GO:0016568)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			AAGTTTCATAGAGTCATCGTT	0.313																																						dbGAP											0													221.0	201.0	208.0					3																	148782631		2202	4299	6501	-	-	-	SO:0001583	missense	0			L34673	CCDS33875.1	3q25.1-q26.1	2006-11-09	2006-11-09	2006-11-09	ENSG00000071794	ENSG00000071794		"""RING-type (C3HC4) zinc fingers"""	11099	protein-coding gene	gene with protein product		603257	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3"""	SNF2L3, SMARCA3		7558014	Standard	NM_139048		Approved	HIP116A, HLTF1, RNF80	uc003ewr.1	Q14527	OTTHUMG00000159534	ENST00000310053.5:c.1013C>G	3.37:g.148782631G>C	ENSP00000308944:p.Ser338Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DNH3|Q14536|Q16051|Q7KYJ6|Q86YA5|Q92652|Q96KM9	Missense_Mutation	SNP	pfam_SNF2_N,pfam_HIP116_Rad5p_N,pfam_Helicase_C,smart_HIP116_Rad5p_N,smart_Helicase_ATP-bd,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S338C	ENST00000310053.5	37	c.1013	CCDS33875.1	3	.	.	.	.	.	.	.	.	.	.	G	11.84	1.759985	0.31137	.	.	ENSG00000071794	ENST00000465259;ENST00000310053;ENST00000392912;ENST00000494055;ENST00000416117;ENST00000392913	D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63	5.65	5.65	0.86999	DEAD-like helicase (1);	.	.	.	.	D	0.89522	0.6739	L	0.34521	1.04	0.09310	N	1	P;P;P	0.49783	0.851;0.879;0.928	P;P;P	0.49301	0.526;0.606;0.526	D	0.83764	0.0216	9	0.52906	T	0.07	-2.1978	15.5823	0.76455	0.0:0.0:1.0:0.0	.	338;338;338	Q59GQ7;A8K5B6;Q14527	.;.;HLTF_HUMAN	C	338;338;338;338;335;335	ENSP00000420745:S338C;ENSP00000308944:S338C;ENSP00000376644:S338C;ENSP00000420429:S338C	ENSP00000308944:S338C	S	-	2	0	HLTF	150265321	0.783000	0.28701	0.018000	0.16275	0.002000	0.02628	4.426000	0.59882	2.810000	0.96702	0.650000	0.86243	TCT	HLTF	-	smart_Helicase_ATP-bd	ENSG00000071794		0.313	HLTF-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	HLTF	HGNC	protein_coding	OTTHUMT00000356064.1	248	0.00	0	G			148782631	148782631	-1	no_errors	ENST00000310053	ensembl	human	known	69_37n	missense	274	14.11	45	SNP	0.076	C
HMBOX1	79618	genome.wustl.edu	37	8	28821327	28821327	+	Splice_Site	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:28821327G>C	ENST00000397358.3	+	3	647		c.e3-1		HMBOX1_ENST00000524238.1_5'Flank|HMBOX1_ENST00000558662.1_Splice_Site|HMBOX1_ENST00000403668.2_Splice_Site|HMBOX1_ENST00000287701.10_Splice_Site|HMBOX1_ENST00000444075.1_Splice_Site|HMBOX1_ENST00000523613.1_Splice_Site|HMBOX1_ENST00000519047.1_Splice_Site|HMBOX1_ENST00000355231.5_Splice_Site	NM_024567.3	NP_078843.2	Q6NT76	HMBX1_HUMAN	homeobox containing 1						negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	11		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		TTGTTCTACAGAATGGTAGAT	0.338																																						dbGAP											0													220.0	183.0	194.0					8																	28821327		692	1591	2283	-	-	-	SO:0001630	splice_region_variant	0			AY522342	CCDS6071.1	8p12	2013-05-23			ENSG00000147421	ENSG00000147421		"""Homeoboxes / HNF class"""	26137	protein-coding gene	gene with protein product	"""homeobox telomere-binding protein 1"""					16825764	Standard	NM_024567		Approved	HNF1LA, PBHNF, FLJ21616, HOT1	uc003xhd.4	Q6NT76	OTTHUMG00000172138	ENST00000397358.3:c.-57-1G>C	8.37:g.28821327G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A4K385|A8K3R8|B4DHY5|D3DSU0|Q3Y6P1|Q96GS5|Q9H701	Splice_Site	SNP	-	e1-1	ENST00000397358.3	37	c.1-1	CCDS6071.1	8																																																																																			HMBOX1	-	-	ENSG00000147421		0.338	HMBOX1-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	HMBOX1	HGNC	protein_coding	OTTHUMT00000255267.4	119	0.00	0	G	NM_024567	Intron	28821327	28821327	+1	no_errors	ENST00000444075	ensembl	human	known	69_37n	splice_site	58	44.76	47	SNP	1.000	C
HMCN1	83872	genome.wustl.edu	37	1	185931690	185931690	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:185931690C>A	ENST00000271588.4	+	12	2098	c.1869C>A	c.(1867-1869)ttC>ttA	p.F623L	HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Missense_Mutation_p.F623L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	623	Ig-like C2-type 3.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATCAGTCTTTCACAGGAGGGT	0.413																																						dbGAP											0													207.0	192.0	197.0					1																	185931690		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.1869C>A	1.37:g.185931690C>A	ENSP00000271588:p.Phe623Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.F623L	ENST00000271588.4	37	c.1869	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	C	17.57	3.422170	0.62622	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.64803	-0.12;-0.12	5.27	1.27	0.21489	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.53626	0.1808	N	0.05177	-0.1	0.51767	D	0.999937	D	0.59357	0.985	D	0.72338	0.977	T	0.48736	-0.9009	10	0.29301	T	0.29	.	8.7217	0.34445	0.0:0.574:0.0:0.426	.	623	Q96RW7	HMCN1_HUMAN	L	623	ENSP00000271588:F623L;ENSP00000356462:F623L	ENSP00000271588:F623L	F	+	3	2	HMCN1	184198313	0.990000	0.36364	1.000000	0.80357	0.996000	0.88848	0.323000	0.19593	0.237000	0.21200	0.591000	0.81541	TTC	HMCN1	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like	ENSG00000143341		0.413	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	175	0.00	0	C	NM_031935		185931690	185931690	+1	no_errors	ENST00000271588	ensembl	human	known	69_37n	missense	125	36.87	73	SNP	0.984	A
HMCN1	83872	genome.wustl.edu	37	1	185985095	185985095	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:185985095C>G	ENST00000271588.4	+	32	5144	c.4915C>G	c.(4915-4917)Cca>Gca	p.P1639A	HMCN1_ENST00000367492.2_Missense_Mutation_p.P1639A	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1639	Ig-like C2-type 14.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CCTAGTTCCTCCAATGATTGA	0.388																																						dbGAP											0													77.0	71.0	73.0					1																	185985095		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.4915C>G	1.37:g.185985095C>G	ENSP00000271588:p.Pro1639Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.P1639A	ENST00000271588.4	37	c.4915	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	C	18.41	3.618659	0.66787	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	D;D	0.92149	-2.98;-2.98	5.87	4.96	0.65561	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.048477	0.85682	D	0.000000	D	0.96049	0.8713	M	0.89478	3.035	0.58432	D	0.999996	D	0.76494	0.999	D	0.78314	0.991	D	0.95978	0.8975	10	0.56958	D	0.05	.	10.7224	0.46048	0.0:0.7997:0.1316:0.0687	.	1639	Q96RW7	HMCN1_HUMAN	A	1639	ENSP00000271588:P1639A;ENSP00000356462:P1639A	ENSP00000271588:P1639A	P	+	1	0	HMCN1	184251718	1.000000	0.71417	0.990000	0.47175	0.967000	0.64934	5.349000	0.66010	1.616000	0.50265	0.655000	0.94253	CCA	HMCN1	-	pfscan_Ig-like	ENSG00000143341		0.388	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	54	0.00	0	C	NM_031935		185985095	185985095	+1	no_errors	ENST00000271588	ensembl	human	known	69_37n	missense	95	15.18	17	SNP	1.000	G
HMG20B	10362	genome.wustl.edu	37	19	3575618	3575618	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:3575618G>A	ENST00000333651.6	+	5	507	c.432G>A	c.(430-432)aaG>aaA	p.K144K	MFSD12_ENST00000591878.1_5'Flank	NM_006339.2	NP_006330.2	Q9P0W2	HM20B_HUMAN	high mobility group 20B	144					blood coagulation (GO:0007596)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of protein sumoylation (GO:0033234)|positive regulation of neuron differentiation (GO:0045666)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGCCTATAAGATGTGCACGG	0.602																																						dbGAP											0													53.0	63.0	60.0					19																	3575618		1936	3976	5912	-	-	-	SO:0001819	synonymous_variant	0			BC003505	CCDS45919.1	19p13.3	2011-07-01	2011-04-05		ENSG00000064961	ENSG00000064961		"""High mobility group / Non-canonical"""	5002	protein-coding gene	gene with protein product	"""HMG box domain containing 2"""	605535	"""high-mobility group 20B"""			10773667	Standard	NM_006339		Approved	SOXL, HMGX2, BRAF35, SMARCE1r, BRAF25, HMGXB2	uc002lya.3	Q9P0W2	OTTHUMG00000150437	ENST00000333651.6:c.432G>A	19.37:g.3575618G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMS5|D6W616|Q6IBP8|Q8NBD5|Q9HD21|Q9Y491|Q9Y4A2	Silent	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.K144	ENST00000333651.6	37	c.432	CCDS45919.1	19																																																																																			HMG20B	-	NULL	ENSG00000064961		0.602	HMG20B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMG20B	HGNC	protein_coding	OTTHUMT00000318088.1	75	0.00	0	G	NM_006339		3575618	3575618	+1	no_errors	ENST00000333651	ensembl	human	known	69_37n	silent	75	16.67	15	SNP	1.000	A
HMGCS1	3157	genome.wustl.edu	37	5	43294891	43294891	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:43294891G>C	ENST00000325110.6	-	7	1184	c.978C>G	c.(976-978)ctC>ctG	p.L326L	HMGCS1_ENST00000433297.2_Silent_p.L326L	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)	326					brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|lipid metabolic process (GO:0006629)|liver development (GO:0001889)|male gonad development (GO:0008584)|response to acid chemical (GO:0001101)|response to drug (GO:0042493)|response to lipoprotein particle (GO:0055094)|response to low light intensity stimulus (GO:0009645)|response to purine-containing compound (GO:0014074)|response to tellurium ion (GO:0046690)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hydroxymethylglutaryl-CoA synthase activity (GO:0004421)|isomerase activity (GO:0016853)|organic acid binding (GO:0043177)			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						TCTGACTGAAGAGTTCAGAGC	0.353																																						dbGAP											0													184.0	182.0	183.0					5																	43294891		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS34154.1	5p14-p13	2012-10-02	2010-04-30			ENSG00000112972	2.3.3.10		5007	protein-coding gene	gene with protein product	"""3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) synthase"""	142940	"""3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 (soluble)"""	HMGCS			Standard	NM_001098272		Approved		uc003jnq.5	Q01581		ENST00000325110.6:c.978C>G	5.37:g.43294891G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDL8	Silent	SNP	pfam_HMG_CoA_synt_C,pfam_HMG_CoA_synth_N,superfamily_Thiolase-like,tigrfam_HMG_CoA_synthase_euk	p.L326	ENST00000325110.6	37	c.978	CCDS34154.1	5																																																																																			HMGCS1	-	pfam_HMG_CoA_synt_C,superfamily_Thiolase-like,tigrfam_HMG_CoA_synthase_euk	ENSG00000112972		0.353	HMGCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGCS1	HGNC	protein_coding	OTTHUMT00000368022.1	146	0.00	0	G			43294891	43294891	-1	no_errors	ENST00000325110	ensembl	human	known	69_37n	silent	111	17.78	24	SNP	1.000	C
HMGCR	3156	genome.wustl.edu	37	5	74655021	74655021	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:74655021G>C	ENST00000287936.4	+	17	2340	c.2184G>C	c.(2182-2184)atG>atC	p.M728I	HMGCR_ENST00000343975.5_Missense_Mutation_p.M675I|HMGCR_ENST00000511206.1_Missense_Mutation_p.M728I	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	728	Catalytic.				aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|coenzyme A metabolic process (GO:0015936)|isoprenoid biosynthetic process (GO:0008299)|myoblast differentiation (GO:0045445)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of vasodilation (GO:0045908)|negative regulation of wound healing (GO:0061045)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein tetramerization (GO:0051262)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|ubiquinone metabolic process (GO:0006743)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisomal membrane (GO:0005778)	coenzyme binding (GO:0050662)|hydroxymethylglutaryl-CoA reductase (NADPH) activity (GO:0004420)|hydroxymethylglutaryl-CoA reductase activity (GO:0042282)|NADPH binding (GO:0070402)			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Fluvastatin(DB01095)|Lovastatin(DB00227)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	CAGAGGCTATGATTGAGGTCA	0.448																																						dbGAP											0													102.0	97.0	99.0					5																	74655021		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4027.1, CCDS47234.1	5q13.3-q14	2012-10-02	2010-04-30		ENSG00000113161	ENSG00000113161	1.1.1.88, 1.1.1.34		5006	protein-coding gene	gene with protein product	"""hydroxymethylglutaryl-CoA reductase"", ""3-hydroxy-3-methylglutaryl CoA reductase (NADPH)"""	142910	"""3-hydroxy-3-methylglutaryl-Coenzyme A reductase"""				Standard	NM_000859		Approved		uc003kdp.3	P04035	OTTHUMG00000102069	ENST00000287936.4:c.2184G>C	5.37:g.74655021G>C	ENSP00000287936:p.Met728Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3Y9|Q8N190	Missense_Mutation	SNP	pfam_HMG_CoA_Rdtase,pfam_Patched,superfamily_HMG_CoA_Rdtase_sub-bd,superfamily_HMG_CoA_Rdtase_NAD(P)-bd,pfscan_SSD,pfscan_HMG_CoA_Rdtase,prints_HMG_CoA_Rdtase,tigrfam_HMG_CoA_Rdtase_metazoan,tigrfam_HMG_CoA_Rdtase_eu_arc	p.M728I	ENST00000287936.4	37	c.2184	CCDS4027.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.32|12.32	1.902257|1.902257	0.33628|0.33628	.|.	.|.	ENSG00000113161|ENSG00000113161	ENST00000511206;ENST00000544469;ENST00000287936;ENST00000343975;ENST00000429286|ENST00000509085	T;T;T|.	0.37752|.	1.18;1.18;1.18|.	5.09|5.09	5.09|5.09	0.68999|0.68999	Hydroxymethylglutaryl-CoA reductase, class I/II, catalytic domain (1);Hydroxymethylglutaryl-CoA reductase, class I/II, substrate-binding (1);|.	0.271362|.	0.42682|.	D|.	0.000673|.	T|.	0.23806|.	0.0576|.	N|N	0.02266|0.02266	-0.62|-0.62	0.45025|0.45025	D|D	0.99804|0.99804	B;B;B;B|.	0.02656|.	0.0;0.0;0.0;0.0|.	B;B;B;B|.	0.09377|.	0.002;0.004;0.001;0.002|.	T|.	0.17471|.	-1.0368|.	10|.	0.52906|.	T|.	0.07|.	-2.8012|-2.8012	10.6317|10.6317	0.45541|0.45541	0.0964:0.0:0.9036:0.0|0.0964:0.0:0.9036:0.0	.|.	728;105;675;728|.	B2R649;B4DSB1;P04035-2;P04035|.	.;.;.;HMDH_HUMAN|.	I|S	728;659;728;675;105|58	ENSP00000426745:M728I;ENSP00000287936:M728I;ENSP00000340816:M675I|.	ENSP00000287936:M728I|.	M|X	+|+	3|2	0|2	HMGCR|HMGCR	74690777|74690777	1.000000|1.000000	0.71417|0.71417	0.969000|0.969000	0.41365|0.41365	0.163000|0.163000	0.22366|0.22366	2.929000|2.929000	0.48916|0.48916	2.371000|2.371000	0.80710|0.80710	0.655000|0.655000	0.94253|0.94253	ATG|TGA	HMGCR	-	pfam_HMG_CoA_Rdtase,superfamily_HMG_CoA_Rdtase_sub-bd,pfscan_HMG_CoA_Rdtase,tigrfam_HMG_CoA_Rdtase_metazoan,tigrfam_HMG_CoA_Rdtase_eu_arc	ENSG00000113161		0.448	HMGCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGCR	HGNC	protein_coding	OTTHUMT00000219877.2	80	0.00	0	G			74655021	74655021	+1	no_errors	ENST00000287936	ensembl	human	known	69_37n	missense	63	20.25	16	SNP	1.000	C
HMHA1	23526	genome.wustl.edu	37	19	1083181	1083181	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:1083181G>A	ENST00000313093.2	+	21	3015	c.2784G>A	c.(2782-2784)ggG>ggA	p.G928G	HMHA1_ENST00000590214.1_Silent_p.G955G|HMHA1_ENST00000591169.1_Intron|HMHA1_ENST00000539243.2_Silent_p.G944G|HMHA1_ENST00000586866.1_Silent_p.G932G|HMHA1_ENST00000543365.1_Silent_p.G811G|HMHA1_ENST00000536472.1_Silent_p.G796G|HMHA1_ENST00000590577.1_Silent_p.G563G	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	928	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		TGACCCCCGGGAACCTGGGCA	0.706																																						dbGAP											0													44.0	36.0	39.0					19																	1083181		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0			D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"""Rho GTPase activating proteins"""	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.2784G>A	19.37:g.1083181G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_FCH,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom	p.G928	ENST00000313093.2	37	c.2784	CCDS32863.1	19																																																																																			HMHA1	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000180448		0.706	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HMHA1	HGNC	protein_coding	OTTHUMT00000458026.1	12	0.00	0	G			1083181	1083181	+1	no_errors	ENST00000313093	ensembl	human	known	69_37n	silent	10	41.18	7	SNP	0.995	A
HMMR	3161	genome.wustl.edu	37	5	162910044	162910044	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:162910044G>C	ENST00000358715.3	+	14	1584	c.1548G>C	c.(1546-1548)caG>caC	p.Q516H	HMMR_ENST00000432118.2_Missense_Mutation_p.Q430H|HMMR_ENST00000393915.4_Missense_Mutation_p.Q517H|HMMR_ENST00000353866.3_Missense_Mutation_p.Q501H|RP11-80G7.1_ENST00000514724.2_RNA|RP11-80G7.1_ENST00000521666.1_RNA			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	516					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	TAGATCTGCAGACCAAGTCAG	0.338																																						dbGAP											0													68.0	77.0	74.0					5																	162910044		2202	4296	6498	-	-	-	SO:0001583	missense	0			U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"""CD molecules"""	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.1548G>C	5.37:g.162910044G>C	ENSP00000351554:p.Gln516His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Missense_Mutation	SNP	NULL	p.Q517H	ENST00000358715.3	37	c.1551	CCDS4362.1	5	.	.	.	.	.	.	.	.	.	.	G	16.20	3.056770	0.55325	.	.	ENSG00000072571	ENST00000416990;ENST00000353866;ENST00000393915;ENST00000426586;ENST00000432118;ENST00000358715	T;T;T;T;T	0.09073	3.02;3.02;3.02;3.02;3.02	5.33	4.46	0.54185	.	0.170644	0.52532	D	0.000069	T	0.22898	0.0553	M	0.67953	2.075	0.35076	D	0.762985	D;D;D;D	0.89917	1.0;0.999;0.999;0.999	D;D;D;D	0.72982	0.979;0.952;0.976;0.976	T	0.22800	-1.0206	10	0.66056	D	0.02	-8.1318	8.3184	0.32115	0.0779:0.0:0.7681:0.154	.	430;517;501;516	O75330-4;O75330-3;O75330-2;O75330	.;.;.;HMMR_HUMAN	H	402;501;517;493;430;516	ENSP00000400527:Q402H;ENSP00000185942:Q501H;ENSP00000377492:Q517H;ENSP00000402673:Q430H;ENSP00000351554:Q516H	ENSP00000185942:Q501H	Q	+	3	2	HMMR	162842622	1.000000	0.71417	0.997000	0.53966	0.901000	0.52897	2.298000	0.43602	1.483000	0.48342	-0.140000	0.14226	CAG	HMMR	-	NULL	ENSG00000072571		0.338	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	HMMR	HGNC	protein_coding	OTTHUMT00000252752.1	17	0.00	0	G	NM_012484		162910044	162910044	+1	no_errors	ENST00000393915	ensembl	human	known	69_37n	missense	24	17.24	5	SNP	0.988	C
HNMT	3176	genome.wustl.edu	37	2	138722051	138722051	+	Splice_Site	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:138722051G>A	ENST00000410115.1	+	2	138		c.e2-1		HNMT_ENST00000280096.5_5'UTR|HNMT_ENST00000280097.3_5'UTR|HNMT_ENST00000329366.4_5'UTR			P50135	HNMT_HUMAN	histamine N-methyltransferase						brain development (GO:0007420)|hyperosmotic response (GO:0006972)|respiratory gaseous exchange (GO:0007585)|response to amine (GO:0014075)|response to cocaine (GO:0042220)|response to glucocorticoid (GO:0051384)|response to interleukin-1 (GO:0070555)|response to tumor cell (GO:0002347)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nucleus (GO:0005634)	histamine N-methyltransferase activity (GO:0046539)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.125)	Amodiaquine(DB00613)|Chlorhexidine(DB00878)|Histamine Phosphate(DB00667)|Quinacrine(DB01103)	GTCTTTCTCAGAAAACCAAAT	0.453																																						dbGAP											0													123.0	124.0	124.0					2																	138722051		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS2181.1, CCDS33296.1, CCDS33297.1	2q22.1	2008-02-05			ENSG00000150540	ENSG00000150540	2.1.1.8		5028	protein-coding gene	gene with protein product		605238					Standard	NM_001024074		Approved		uc002tvf.3	P50135	OTTHUMG00000131751	ENST00000410115.1:c.-10-1G>A	2.37:g.138722051G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9J3|Q546Z6|Q7Z7I2|Q8IU56|Q8WW98|Q9BRW6	Splice_Site	SNP	-	e1-1	ENST00000410115.1	37	c.1-1	CCDS2181.1	2																																																																																			HNMT	-	-	ENSG00000150540		0.453	HNMT-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HNMT	HGNC	protein_coding	OTTHUMT00000331843.1	83	0.00	0	G		Intron	138722051	138722051	+1	no_errors	ENST00000410115	ensembl	human	known	69_37n	splice_site	74	16.85	15	SNP	0.997	A
HNRNPA2B1	3181	genome.wustl.edu	37	7	26232920	26232920	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:26232920C>G	ENST00000354667.4	-	10	1119	c.951G>C	c.(949-951)aaG>aaC	p.K317N	HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.K305N|HNRNPA2B1_ENST00000476233.1_5'Flank	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	317	Gly-rich.|Nuclear targeting sequence. {ECO:0000250}.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|RNA binding (GO:0003723)|single-stranded telomeric DNA binding (GO:0043047)	p.K305N(1)	HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						AGTTTCCACTCTTCATTGGAC	0.348			T	ETV1	prostate																																	dbGAP		Dom	yes		7	7p15	3181	heterogeneous nuclear ribonucleoprotein A2/B1		E	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											117.0	113.0	114.0					7																	26232920		2203	4300	6503	-	-	-	SO:0001583	missense	0			D28877	CCDS5397.1, CCDS43557.1	7p15	2013-02-12		2007-08-16	ENSG00000122566	ENSG00000122566		"""RNA binding motif (RRM) containing"""	5033	protein-coding gene	gene with protein product		600124		HNRPA2B1		8029005	Standard	NM_002137		Approved		uc003sxr.4	P22626	OTTHUMG00000023471	ENST00000354667.4:c.951G>C	7.37:g.26232920C>G	ENSP00000346694:p.Lys317Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K064|P22627|Q9UC98|Q9UDJ2	Missense_Mutation	SNP	pfam_RRM_dom,pfam_HnRNPA1,smart_RRM_dom,pfscan_RRM_dom	p.K317N	ENST00000354667.4	37	c.951	CCDS43557.1	7	.	.	.	.	.	.	.	.	.	.	C	15.27	2.784383	0.49997	.	.	ENSG00000122566	ENST00000354667;ENST00000356674	D;D	0.89681	-2.55;-2.55	5.98	5.1	0.69264	.	0.000000	0.64402	D	0.000001	D	0.88314	0.6403	M	0.80332	2.49	0.32404	N	0.551512	P;P	0.44429	0.835;0.745	B;B	0.40565	0.333;0.264	D	0.89763	0.3948	10	0.34782	T	0.22	.	11.1186	0.48275	0.0:0.8605:0.0:0.1395	.	305;317	P22626-2;P22626	.;ROA2_HUMAN	N	317;305	ENSP00000346694:K317N;ENSP00000349101:K305N	ENSP00000346694:K317N	K	-	3	2	HNRNPA2B1	26199445	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	1.307000	0.33516	1.562000	0.49601	0.650000	0.86243	AAG	HNRNPA2B1	-	pfam_HnRNPA1	ENSG00000122566		0.348	HNRNPA2B1-001	KNOWN	basic|CCDS	protein_coding	HNRNPA2B1	HGNC	protein_coding	OTTHUMT00000214109.1	152	0.00	0	C	NM_002137		26232920	26232920	-1	no_errors	ENST00000354667	ensembl	human	known	69_37n	missense	99	33.11	49	SNP	1.000	G
HNRNPH1	3187	genome.wustl.edu	37	5	179043940	179043940	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:179043940G>A	ENST00000356731.5	-	10	2672	c.1137C>T	c.(1135-1137)ctC>ctT	p.L379L	HNRNPH1_ENST00000524180.1_5'Flank|HNRNPH1_ENST00000510411.1_Intron|HNRNPH1_ENST00000511300.2_Intron|HNRNPH1_ENST00000329433.6_Silent_p.L379L|HNRNPH1_ENST00000442819.2_Silent_p.L379L|HNRNPH1_ENST00000393432.4_Silent_p.L379L			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	379	2 X 16 AA Gly-rich approximate repeats.|2 X 19 AA perfect repeats.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						AATTCAAGAAGAGTTCTACAT	0.383																																						dbGAP											0													102.0	99.0	100.0					5																	179043940		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC001348	CCDS4446.1	5q35.3	2013-02-12		2008-04-18	ENSG00000169045	ENSG00000169045		"""RNA binding motif (RRM) containing"""	5041	protein-coding gene	gene with protein product		601035		HNRPH1		7499401	Standard	NM_005520		Approved	hnRNPH	uc003mkf.5	P31943	OTTHUMG00000130908	ENST00000356731.5:c.1137C>T	5.37:g.179043940G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KW86|D3DWQ2|Q6IBM4	Missense_Mutation	SNP	NULL	p.L47F	ENST00000356731.5	37	c.139	CCDS4446.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	7.146|7.146	0.582817|0.582817	0.13749|0.13749	.|.	.|.	ENSG00000169045|ENSG00000169045	ENST00000523449|ENST00000521173	T|.	0.13089|.	2.62|.	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	0.000000|.	0.49916|.	D|.	0.000123|.	T|T	0.71837|0.71837	0.3387|0.3387	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.69503|0.69503	-0.5128|-0.5128	6|4	.|.	.|.	.|.	-4.0533|-4.0533	15.54|15.54	0.76035|0.76035	0.0:0.1375:0.8625:0.0|0.0:0.1375:0.8625:0.0	.|.	.|.	.|.	.|.	F|F	47|254	ENSP00000429673:L47F|.	.|.	L|S	-|-	1|2	0|0	HNRNPH1|HNRNPH1	178976546|178976546	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.482000|4.482000	0.60257|0.60257	2.734000|2.734000	0.93682|0.93682	0.650000|0.650000	0.86243|0.86243	CTT|TCT	HNRNPH1	-	NULL	ENSG00000169045		0.383	HNRNPH1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HNRNPH1	HGNC	protein_coding	OTTHUMT00000253497.3	127	0.00	0	G	NM_005520		179043940	179043940	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000523449	ensembl	human	putative	69_37n	missense	90	24.37	29	SNP	1.000	A
HNRNPH2	3188	genome.wustl.edu	37	X	100667407	100667407	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:100667407C>T	ENST00000316594.5	+	2	509	c.431C>T	c.(430-432)cCa>cTa	p.P144L		NM_001032393.2|NM_001199973.1|NM_001199974.1|NM_019597.4	NP_001027565.1|NP_001186902.1|NP_001186903.1|NP_062543.1	P55795	HNRH2_HUMAN	heterogeneous nuclear ribonucleoprotein H2 (H')	144	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|large_intestine(2)|lung(6)|skin(1)	12						ATGACACTGCCAGTGGACTTT	0.493																																						dbGAP											0													87.0	81.0	83.0					X																	100667407		2203	4300	6503	-	-	-	SO:0001583	missense	0			U01923	CCDS14485.1	Xq22	2013-02-12		2008-04-18	ENSG00000126945	ENSG00000126945		"""RNA binding motif (RRM) containing"""	5042	protein-coding gene	gene with protein product		300610		HNRPH2		7499401	Standard	NM_019597		Approved	hnRNPH', FTP3, HNRPH'	uc004ehn.3	P55795	OTTHUMG00000022029	ENST00000316594.5:c.431C>T	X.37:g.100667407C>T	ENSP00000361927:p.Pro144Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L400|Q9HHA7	Missense_Mutation	SNP	pfam_RRM_dom,pfam_Znf_CHHC,smart_RRM_dom,pfscan_RRM_dom	p.P144L	ENST00000316594.5	37	c.431	CCDS14485.1	X	.	.	.	.	.	.	.	.	.	.	C	11.20	1.567741	0.28003	.	.	ENSG00000126945	ENST00000457902;ENST00000316594	T	0.08546	3.08	4.73	4.73	0.59995	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.08223	0.0205	L	0.28115	0.83	0.80722	D	1	B	0.20052	0.041	B	0.28991	0.097	T	0.29852	-0.9998	10	0.32370	T	0.25	1.5516	14.3235	0.66502	0.0:1.0:0.0:0.0	.	144	P55795	HNRH2_HUMAN	L	99;144	ENSP00000361927:P144L	ENSP00000361927:P144L	P	+	2	0	HNRNPH2	100554063	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	7.531000	0.81973	2.348000	0.79779	0.513000	0.50165	CCA	HNRNPH2	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000126945		0.493	HNRNPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPH2	HGNC	protein_coding	OTTHUMT00000057556.1	97	0.00	0	C	NM_019597		100667407	100667407	+1	no_errors	ENST00000316594	ensembl	human	known	69_37n	missense	68	21.84	19	SNP	1.000	T
HNRNPM	4670	genome.wustl.edu	37	19	8550499	8550499	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:8550499G>A	ENST00000325495.4	+	14	1228	c.1187G>A	c.(1186-1188)gGa>gAa	p.G396E	HNRNPM_ENST00000348943.3_Missense_Mutation_p.G357E	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	396	Poly-Gly.				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|RNA binding (GO:0003723)			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						GGAGGTGGAGGAAGCGTCCCT	0.627																																						dbGAP											0													133.0	139.0	137.0					19																	8550499		2203	4300	6503	-	-	-	SO:0001583	missense	0			L03532	CCDS12203.1, CCDS12204.1	19p13.2	2013-06-12		2008-04-18	ENSG00000099783	ENSG00000099783		"""RNA binding motif (RRM) containing"""	5046	protein-coding gene	gene with protein product	"""CEA receptor"""	160994		NAGR1, HNRPM		8441656, 7558047	Standard	NM_005968		Approved	HTGR1, HNRNPM4, HNRPM4, CEAR	uc010dwe.3	P52272	OTTHUMG00000182383	ENST00000325495.4:c.1187G>A	19.37:g.8550499G>A	ENSP00000325376:p.Gly396Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Missense_Mutation	SNP	pfam_RRM_dom,pfam_HnRNP_M_PY-NLS,smart_RRM_dom,pfscan_RRM_dom	p.G396E	ENST00000325495.4	37	c.1187	CCDS12203.1	19	.	.	.	.	.	.	.	.	.	.	G	19.44	3.827718	0.71143	.	.	ENSG00000099783	ENST00000325495;ENST00000348943;ENST00000544159	T;T	0.16597	2.33;2.68	5.65	5.65	0.86999	.	0.222920	0.44902	D	0.000417	T	0.26376	0.0644	L	0.44542	1.39	0.58432	D	0.999999	P;P;P;B	0.52577	0.954;0.622;0.879;0.201	P;B;P;B	0.53450	0.726;0.207;0.572;0.092	T	0.00334	-1.1809	10	0.72032	D	0.01	.	12.9409	0.58342	0.0:0.1625:0.8374:0.0	.	236;396;357;281	Q7KYM9;P52272;P52272-2;Q59ES8	.;HNRPM_HUMAN;.;.	E	396;357;281	ENSP00000325376:G396E;ENSP00000325732:G357E	ENSP00000325376:G396E	G	+	2	0	HNRNPM	8456499	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	3.725000	0.54970	2.668000	0.90789	0.491000	0.48974	GGA	HNRNPM	-	NULL	ENSG00000099783		0.627	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HNRNPM	HGNC	protein_coding	OTTHUMT00000460894.1	42	0.00	0	G			8550499	8550499	+1	no_errors	ENST00000325495	ensembl	human	known	69_37n	missense	19	34.48	10	SNP	1.000	A
HNRNPL	3191	genome.wustl.edu	37	19	39329203	39329203	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:39329203G>A	ENST00000221419.5	-	10	1757	c.1391C>T	c.(1390-1392)tCa>tTa	p.S464L	HNRNPL_ENST00000600873.1_Missense_Mutation_p.S331L|AC104534.3_ENST00000594769.1_Missense_Mutation_p.H81Y	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	464	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			CAACCCGTATGACTGACCAGG	0.542																																						dbGAP											0													66.0	54.0	58.0					19																	39329203		2203	4300	6503	-	-	-	SO:0001583	missense	0			X16135	CCDS33015.1, CCDS33016.1	19q13.2	2013-06-12		2007-08-16	ENSG00000104824	ENSG00000104824		"""RNA binding motif (RRM) containing"""	5045	protein-coding gene	gene with protein product		603083		HNRPL		2687284	Standard	NM_001533		Approved		uc021uuh.1	P14866	OTTHUMG00000182612	ENST00000221419.5:c.1391C>T	19.37:g.39329203G>A	ENSP00000221419:p.Ser464Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6ND69|A6NIT8|Q9H3P3	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	p.S464L	ENST00000221419.5	37	c.1391	CCDS33015.1	19	.	.	.	.	.	.	.	.	.	.	G	15.29	2.788286	0.49997	.	.	ENSG00000104824	ENST00000221419;ENST00000388749;ENST00000388750	.	.	.	6.17	6.17	0.99709	Nucleotide-binding, alpha-beta plait (1);	0.110508	0.64402	D	0.000007	T	0.53384	0.1793	L	0.57536	1.79	0.58432	D	0.999996	P;B;D	0.54047	0.49;0.266;0.964	B;B;B	0.37091	0.022;0.039;0.241	T	0.54200	-0.8329	9	0.27785	T	0.31	.	19.6509	0.95805	0.0:0.0:1.0:0.0	.	464;433;447	P14866;B2R959;Q6NTA2	HNRPL_HUMAN;.;.	L	464;331;331	.	ENSP00000221419:S464L	S	-	2	0	HNRNPL	44021043	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	4.175000	0.58263	2.941000	0.99782	0.655000	0.94253	TCA	HNRNPL	-	tigrfam_HnRNP-L_PTB	ENSG00000104824		0.542	HNRNPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPL	HGNC	protein_coding	OTTHUMT00000462670.1	83	0.00	0	G			39329203	39329203	-1	no_errors	ENST00000221419	ensembl	human	known	69_37n	missense	37	44.12	30	SNP	0.996	A
HNRNPUL1	11100	genome.wustl.edu	37	19	41774180	41774180	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:41774180C>T	ENST00000392006.3	+	2	521	c.348C>T	c.(346-348)atC>atT	p.I116I	HNRNPUL1_ENST00000263367.3_Silent_p.I27I|HNRNPUL1_ENST00000352456.3_Silent_p.I16I|HNRNPUL1_ENST00000594207.1_3'UTR|HNRNPUL1_ENST00000602130.1_Silent_p.I116I|HNRNPUL1_ENST00000595018.1_Silent_p.I16I|HNRNPUL1_ENST00000593587.1_Silent_p.I16I|HNRNPUL1_ENST00000378215.4_Silent_p.I73I	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	116					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						CCCAAGTCATCAAACAAGAAA	0.438																																						dbGAP											0													126.0	99.0	108.0					19																	41774180		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ007509	CCDS12576.1, CCDS12577.1	19q13.2	2013-06-12		2008-04-18	ENSG00000105323	ENSG00000105323			17011	protein-coding gene	gene with protein product	"""E1B 55kDa associated protein 5"""	605800		HNRPUL1		9733834, 12489984	Standard	XM_005258459		Approved	E1B-AP5, E1BAP5, FLJ12944	uc002oqb.4	Q9BUJ2	OTTHUMG00000182740	ENST00000392006.3:c.348C>T	19.37:g.41774180C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KMW7|O76022|Q6ZSZ0|Q7L8P4|Q8N6Z4|Q96G37|Q9HAL3|Q9UG75	Silent	SNP	pfam_SPRY_rcpt,pfam_SAP_DNA-bd,superfamily_ConA-like_lec_gl,smart_SAP_DNA-bd,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_DNA-bd	p.I116	ENST00000392006.3	37	c.348	CCDS12576.1	19																																																																																			HNRNPUL1	-	NULL	ENSG00000105323		0.438	HNRNPUL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPUL1	HGNC	protein_coding	OTTHUMT00000463406.1	120	0.81	1	C	NM_144732, NM_007040		41774180	41774180	+1	no_errors	ENST00000392006	ensembl	human	known	69_37n	silent	72	22.58	21	SNP	1.000	T
HORMAD2	150280	genome.wustl.edu	37	22	30514992	30514992	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:30514992C>T	ENST00000336726.6	+	8	721	c.366C>T	c.(364-366)ttC>ttT	p.F122F	HORMAD2_ENST00000403975.1_Silent_p.F122F	NM_152510.2	NP_689723.1	Q8N7B1	HORM2_HUMAN	HORMA domain containing 2	122	HORMA. {ECO:0000255|PROSITE- ProRule:PRU00109}.				meiotic nuclear division (GO:0007126)|meiotic sister chromatid cohesion (GO:0051177)	chromosome (GO:0005694)|nucleus (GO:0005634)				large_intestine(1)|lung(1)	2			Epithelial(10;0.125)			TGTACCAGTTCAAATTCAAAT	0.318																																						dbGAP											0													53.0	49.0	50.0					22																	30514992		1820	4075	5895	-	-	-	SO:0001819	synonymous_variant	0			AK098703	CCDS46683.1	22q12.2	2014-01-21			ENSG00000176635	ENSG00000176635			28383	protein-coding gene	gene with protein product						12477932	Standard	NM_152510		Approved	MGC26710, CT46.2	uc003agy.3	Q8N7B1	OTTHUMG00000150881	ENST00000336726.6:c.366C>T	22.37:g.30514992C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B5MEB2|Q8NHR2	Silent	SNP	pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd	p.F122	ENST00000336726.6	37	c.366	CCDS46683.1	22																																																																																			HORMAD2	-	pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd	ENSG00000176635		0.318	HORMAD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HORMAD2	HGNC	protein_coding	OTTHUMT00000320416.2	73	0.00	0	C	NM_152510		30514992	30514992	+1	no_errors	ENST00000336726	ensembl	human	known	69_37n	silent	113	10.32	13	SNP	1.000	T
HOXC10	3226	genome.wustl.edu	37	12	54383179	54383179	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:54383179G>A	ENST00000303460.4	+	2	1052	c.978G>A	c.(976-978)atG>atA	p.M326I	HOXC10_ENST00000511575.1_3'UTR|RP11-834C11.12_ENST00000513209.1_Intron|MIR196A2_ENST00000385189.1_RNA	NM_017409.3	NP_059105.2	Q9NYD6	HXC10_HUMAN	homeobox C10	326					anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|neuromuscular process (GO:0050905)|positive regulation of cell proliferation (GO:0008284)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						TCAAGAAAATGAACCGAGAGA	0.512											OREG0021882	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													59.0	55.0	56.0					12																	54383179		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8868.1	12q13.13	2011-06-20	2005-12-22		ENSG00000180818	ENSG00000180818		"""Homeoboxes / ANTP class : HOXL subclass"""	5122	protein-coding gene	gene with protein product		605560	"""homeo box C10"""	HOX3I		1358459	Standard	NM_017409		Approved		uc001sen.3	Q9NYD6	OTTHUMG00000160031	ENST00000303460.4:c.978G>A	12.37:g.54383179G>A	ENSP00000307321:p.Met326Ile	Somatic	999	WXS	Illumina GAIIx	Phase_IV	O15219|O15220|Q9BVD5	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.M326I	ENST00000303460.4	37	c.978	CCDS8868.1	12	.	.	.	.	.	.	.	.	.	.	G	15.15	2.749140	0.49257	.	.	ENSG00000180818	ENST00000303460	D	0.95447	-3.71	3.81	3.81	0.43845	Homeodomain-related (1);Homeobox (2);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.92938	0.7753	L	0.42632	1.34	0.53688	D	0.999976	B	0.23490	0.086	B	0.26310	0.068	D	0.92032	0.5634	10	0.72032	D	0.01	.	15.3252	0.74154	0.0:0.0:1.0:0.0	.	326	Q9NYD6	HXC10_HUMAN	I	326	ENSP00000307321:M326I	ENSP00000307321:M326I	M	+	3	0	HOXC10	52669446	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.879000	0.56138	2.067000	0.61834	0.462000	0.41574	ATG	HOXC10	-	superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	ENSG00000180818		0.512	HOXC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXC10	HGNC	protein_coding	OTTHUMT00000358952.2	40	0.00	0	G			54383179	54383179	+1	no_errors	ENST00000303460	ensembl	human	known	69_37n	missense	29	50.00	29	SNP	1.000	A
HOXC9	3225	genome.wustl.edu	37	12	54394137	54394137	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:54394137C>T	ENST00000303450.4	+	1	235	c.165C>T	c.(163-165)ttC>ttT	p.F55F	HOXC9_ENST00000504557.1_Intron|HOXC-AS1_ENST00000505700.1_RNA|HOXC-AS1_ENST00000512427.1_RNA|RP11-834C11.12_ENST00000513209.1_Intron|HOXC9_ENST00000508190.1_Silent_p.F55F	NM_006897.1	NP_008828.1	P31274	HXC9_HUMAN	homeobox C9	55					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						CCTGTAGCTTCGCGCCCAAGC	0.687																																						dbGAP											0													40.0	39.0	39.0					12																	54394137		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0				CCDS8869.1	12q13.13	2011-06-20	2005-12-22			ENSG00000180806		"""Homeoboxes / ANTP class : HOXL subclass"""	5130	protein-coding gene	gene with protein product		142971	"""homeo box C9"""	HOX3, HOX3B		1973146	Standard	NM_006897		Approved		uc001seq.3	P31274		ENST00000303450.4:c.165C>T	12.37:g.54394137C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCN7|Q9H1I0	Silent	SNP	pfam_Hox9_activation_N,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pirsf_Homeobox_Hox9,prints_Homeobox_metazoa,pfscan_Homeodomain	p.F55	ENST00000303450.4	37	c.165	CCDS8869.1	12																																																																																			HOXC9	-	pfam_Hox9_activation_N,pirsf_Homeobox_Hox9	ENSG00000180806		0.687	HOXC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXC9	HGNC	protein_coding	OTTHUMT00000358958.1	37	0.00	0	C			54394137	54394137	+1	no_errors	ENST00000303450	ensembl	human	known	69_37n	silent	21	34.38	11	SNP	1.000	T
HPCAL1	3241	genome.wustl.edu	37	2	10563154	10563154	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:10563154G>A	ENST00000381765.3	+	5	950	c.424G>A	c.(424-426)Gag>Aag	p.E142K	HPCAL1_ENST00000307845.3_Missense_Mutation_p.E142K	NM_134421.2	NP_602293.1	P37235	HPCL1_HUMAN	hippocalcin-like 1	142					signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.214)		GCCGGAGGATGAGTCCACCCC	0.622																																					Pancreas(70;1384 1800 31595 46836)	dbGAP											0													123.0	101.0	108.0					2																	10563154		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1671.1	2p25.1	2013-01-10			ENSG00000115756	ENSG00000115756		"""EF-hand domain containing"""	5145	protein-coding gene	gene with protein product	"""visinin-like protein 3"", ""calcium-binding protein BDR-1"""	600207				8038222, 14739275	Standard	NM_002149		Approved	BDR1, HLP2, VILIP-3	uc031rnq.1	P37235	OTTHUMG00000090451	ENST00000381765.3:c.424G>A	2.37:g.10563154G>A	ENSP00000371184:p.Glu142Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q969S5	Missense_Mutation	SNP	pfam_EF-hand,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin	p.E142K	ENST00000381765.3	37	c.424	CCDS1671.1	2	.	.	.	.	.	.	.	.	.	.	G	32	5.164869	0.94727	.	.	ENSG00000115756	ENST00000307845;ENST00000381765	T;T	0.72282	-0.64;-0.64	4.93	4.93	0.64822	EF-hand-like domain (1);	0.107152	0.64402	D	0.000008	T	0.74951	0.3784	M	0.83774	2.66	0.80722	D	1	B	0.13594	0.008	B	0.14023	0.01	T	0.74743	-0.3562	10	0.56958	D	0.05	.	18.1784	0.89769	0.0:0.0:1.0:0.0	.	142	P37235	HPCL1_HUMAN	K	142	ENSP00000310749:E142K;ENSP00000371184:E142K	ENSP00000310749:E142K	E	+	1	0	HPCAL1	10480605	1.000000	0.71417	0.996000	0.52242	0.834000	0.47266	9.807000	0.99171	2.279000	0.76181	0.655000	0.94253	GAG	HPCAL1	-	pfam_SPARC/Testican_Ca-bd-dom,prints_Recoverin	ENSG00000115756		0.622	HPCAL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HPCAL1	HGNC	protein_coding	OTTHUMT00000206898.1	47	0.00	0	G	NM_002149		10563154	10563154	+1	no_errors	ENST00000307845	ensembl	human	known	69_37n	missense	47	25.40	16	SNP	1.000	A
HRC	3270	genome.wustl.edu	37	19	49657064	49657064	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:49657064C>G	ENST00000252825.4	-	1	1617	c.1431G>C	c.(1429-1431)ttG>ttC	p.L477F	HRC_ENST00000595625.1_Missense_Mutation_p.L477F	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	477					cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		CATCCTTCCTCAAATGGCTTC	0.522																																					Melanoma(37;75 1097 24567 25669 30645)	dbGAP											0													155.0	140.0	145.0					19																	49657064		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.1431G>C	19.37:g.49657064C>G	ENSP00000252825:p.Leu477Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q504Y6	Missense_Mutation	SNP	pfam_Hist_rich_Ca-bd	p.L477F	ENST00000252825.4	37	c.1431	CCDS12759.1	19	.	.	.	.	.	.	.	.	.	.	C	0.023	-1.404942	0.01155	.	.	ENSG00000130528	ENST00000252825;ENST00000391863;ENST00000434964	T	0.61040	0.14	2.45	-3.84	0.04256	.	.	.	.	.	T	0.31979	0.0814	N	0.17082	0.46	0.09310	N	1	B	0.28636	0.218	B	0.23150	0.044	T	0.12811	-1.0533	9	0.52906	T	0.07	2.3503	3.5252	0.07757	0.0:0.3456:0.2037:0.4506	.	477	P23327	SRCH_HUMAN	F	477;176;447	ENSP00000252825:L477F	ENSP00000252825:L477F	L	-	3	2	HRC	54348876	.	.	0.001000	0.08648	0.110000	0.19582	.	.	-0.901000	0.03891	-0.379000	0.06801	TTG	HRC	-	NULL	ENSG00000130528		0.522	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRC	HGNC	protein_coding	OTTHUMT00000465649.1	167	0.00	0	C	NM_002152		49657064	49657064	-1	no_errors	ENST00000252825	ensembl	human	known	69_37n	missense	128	30.05	55	SNP	0.000	G
HRG	3273	genome.wustl.edu	37	3	186394974	186394974	+	Missense_Mutation	SNP	G	G	A	rs140336956	byFrequency	TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:186394974G>A	ENST00000232003.4	+	7	960	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	294	Pro-rich.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|defense response to fungus (GO:0050832)|fibrinolysis (GO:0042730)|heme export (GO:0097037)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel remodeling (GO:2000504)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of immune response to tumor cell (GO:0002839)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet activation (GO:0010543)|regulation of protein complex assembly (GO:0043254)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|response to organic cyclic compound (GO:0014070)	blood microparticle (GO:0072562)|endolysosome (GO:0036019)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|phagolysosome membrane (GO:0061474)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heme binding (GO:0020037)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|immunoglobulin binding (GO:0019865)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)	p.E294K(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		CAAGCCACACGAACATGGACC	0.547																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											209.0	169.0	183.0					3																	186394974		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3280.1	3q27	2008-07-18			ENSG00000113905	ENSG00000113905			5181	protein-coding gene	gene with protein product	"""histidine-proline rich glycoprotein"", ""thrombophilia due to elevated HRG"""	142640				1678514	Standard	NM_000412		Approved	HRGP, HPRG	uc003fqq.3	P04196	OTTHUMG00000156578	ENST00000232003.4:c.880G>A	3.37:g.186394974G>A	ENSP00000232003:p.Glu294Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EK35|D3DNU7	Missense_Mutation	SNP	pfam_Prot_inh_cystat,smart_Prot_inh_cystat	p.E294K	ENST00000232003.4	37	c.880	CCDS3280.1	3	.	.	.	.	.	.	.	.	.	.	G	1.066	-0.671321	0.03403	.	.	ENSG00000113905	ENST00000232003	T	0.16597	2.33	4.05	-8.09	0.01090	.	1.114660	0.06781	N	0.785327	T	0.04407	0.0121	N	0.02011	-0.69	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.42599	-0.9442	10	0.05351	T	0.99	5.1083	10.491	0.44750	0.2381:0.1263:0.6357:0.0	.	294	P04196	HRG_HUMAN	K	294	ENSP00000232003:E294K	ENSP00000232003:E294K	E	+	1	0	HRG	187877668	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.026000	0.01434	-1.847000	0.01173	-0.263000	0.10527	GAA	HRG	-	NULL	ENSG00000113905		0.547	HRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRG	HGNC	protein_coding	OTTHUMT00000344655.1	147	0.00	0	G	NM_000412		186394974	186394974	+1	no_errors	ENST00000232003	ensembl	human	known	69_37n	missense	150	16.67	30	SNP	0.000	A
HS1BP3	64342	genome.wustl.edu	37	2	20845199	20845199	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:20845199C>G	ENST00000304031.3	-	2	124	c.99G>C	c.(97-99)aaG>aaC	p.K33N	HS1BP3_ENST00000402541.1_Missense_Mutation_p.K33N|HS1BP3_ENST00000406618.3_Missense_Mutation_p.K33N	NM_022460.3	NP_071905.3	Q53T59	H1BP3_HUMAN	HCLS1 binding protein 3	33	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.						phosphatidylinositol binding (GO:0035091)			endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGACATCATCTTGCCCCGTA	0.612																																						dbGAP											0													115.0	104.0	107.0					2																	20845199		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1700.1	2p24.1	2006-08-15			ENSG00000118960	ENSG00000118960			24979	protein-coding gene	gene with protein product		609359				10590261, 15699368	Standard	NM_022460		Approved	HS1-BP3,FLJ14249	uc002rdw.1	Q53T59	OTTHUMG00000122099	ENST00000304031.3:c.99G>C	2.37:g.20845199C>G	ENSP00000305193:p.Lys33Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAW2|D6W529|Q86VC2|Q8N367	Missense_Mutation	SNP	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.K33N	ENST00000304031.3	37	c.99	CCDS1700.1	2	.	.	.	.	.	.	.	.	.	.	C	22.6	4.314986	0.81358	.	.	ENSG00000118960	ENST00000304031;ENST00000402541;ENST00000406618	T;T;T	0.69435	-0.4;-0.4;-0.4	4.45	4.45	0.53987	Phox homologous domain (4);	0.320230	0.26704	N	0.022922	T	0.72630	0.3484	L	0.34521	1.04	0.43896	D	0.996522	D;P;P	0.67145	0.996;0.675;0.918	D;B;P	0.67382	0.951;0.372;0.745	T	0.73563	-0.3943	10	0.41790	T	0.15	-27.7068	16.7023	0.85357	0.0:1.0:0.0:0.0	.	33;33;33	B5MC96;F6TR53;Q53T59	.;.;H1BP3_HUMAN	N	33	ENSP00000305193:K33N;ENSP00000384984:K33N;ENSP00000385788:K33N	ENSP00000305193:K33N	K	-	3	2	HS1BP3	20708680	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.056000	0.41355	2.023000	0.59567	0.563000	0.77884	AAG	HS1BP3	-	superfamily_Phox,smart_Phox,pfscan_Phox	ENSG00000118960		0.612	HS1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS1BP3	HGNC	protein_coding	OTTHUMT00000242863.1	40	0.00	0	C	NM_022460		20845199	20845199	-1	no_errors	ENST00000304031	ensembl	human	known	69_37n	missense	44	22.81	13	SNP	1.000	G
HS3ST3B1	9953	genome.wustl.edu	37	17	14248768	14248768	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:14248768C>G	ENST00000360954.2	+	2	1414	c.978C>G	c.(976-978)ttC>ttG	p.F326L		NM_006041.1	NP_006032.1	Q9Y662	HS3SB_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1	326					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)|[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity (GO:0033872)			large_intestine(3)|lung(3)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0887)		ACAAGCACTTCTACTTCAACA	0.637																																						dbGAP											0													7.0	8.0	7.0					17																	14248768		1946	4024	5970	-	-	-	SO:0001583	missense	0			AF105377	CCDS11167.1	17p12	2007-04-02			ENSG00000125430	ENSG00000125430	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5198	protein-coding gene	gene with protein product		604058				9988767	Standard	NM_006041		Approved	3OST3B1, 30ST3B1	uc002goh.1	Q9Y662	OTTHUMG00000058810	ENST00000360954.2:c.978C>G	17.37:g.14248768C>G	ENSP00000354213:p.Phe326Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KN58|D3DTS6	Missense_Mutation	SNP	pfam_Sulfotransferase_dom	p.F326L	ENST00000360954.2	37	c.978	CCDS11167.1	17	.	.	.	.	.	.	.	.	.	.	C	18.81	3.704072	0.68615	.	.	ENSG00000125430	ENST00000360954	T	0.80824	-1.42	4.85	4.85	0.62838	Sulfotransferase domain (1);	0.000000	0.85682	U	0.000000	D	0.86772	0.6013	M	0.67517	2.055	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83992	0.0338	10	0.27082	T	0.32	.	12.2833	0.54776	0.0:0.9204:0.0:0.0796	.	326	Q9Y662	HS3SB_HUMAN	L	326	ENSP00000354213:F326L	ENSP00000354213:F326L	F	+	3	2	HS3ST3B1	14189493	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.120000	0.50430	2.621000	0.88768	0.557000	0.71058	TTC	HS3ST3B1	-	pfam_Sulfotransferase_dom	ENSG00000125430		0.637	HS3ST3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS3ST3B1	HGNC	protein_coding	OTTHUMT00000129998.1	14	0.00	0	C	NM_006041		14248768	14248768	+1	no_errors	ENST00000360954	ensembl	human	known	69_37n	missense	7	36.36	4	SNP	1.000	G
HS6ST3	266722	genome.wustl.edu	37	13	96743542	96743542	+	Missense_Mutation	SNP	C	C	G	rs371116147		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr13:96743542C>G	ENST00000376705.2	+	1	450	c.426C>G	c.(424-426)atC>atG	p.I142M		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	142					heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)	integral component of membrane (GO:0016021)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					ATTTCAACATCAAAGGGCGCG	0.622																																						dbGAP											0													35.0	36.0	35.0					13																	96743542		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF539426	CCDS9481.1	13q32.2	2007-12-04			ENSG00000185352	ENSG00000185352		"""Sulfotransferases, membrane-bound"""	19134	protein-coding gene	gene with protein product		609401					Standard	NM_153456		Approved		uc001vmw.4	Q8IZP7	OTTHUMG00000017232	ENST00000376705.2:c.426C>G	13.37:g.96743542C>G	ENSP00000365895:p.Ile142Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5W0L0|Q68CW6	Missense_Mutation	SNP	pfam_Sulfotransferase	p.I142M	ENST00000376705.2	37	c.426	CCDS9481.1	13	.	.	.	.	.	.	.	.	.	.	c	11.63	1.695655	0.30052	.	.	ENSG00000185352	ENST00000376705	T	0.75704	-0.96	4.66	1.74	0.24563	.	0.102912	0.64402	D	0.000004	T	0.51635	0.1686	N	0.26042	0.785	0.35183	D	0.772697	P	0.35192	0.489	B	0.35770	0.21	T	0.46527	-0.9185	10	0.13853	T	0.58	-6.8119	1.9304	0.03326	0.1312:0.4057:0.2745:0.1887	.	142	Q8IZP7	H6ST3_HUMAN	M	142	ENSP00000365895:I142M	ENSP00000365895:I142M	I	+	3	3	HS6ST3	95541543	0.006000	0.16342	0.999000	0.59377	0.995000	0.86356	0.004000	0.13106	0.398000	0.25338	0.500000	0.49745	ATC	HS6ST3	-	pfam_Sulfotransferase	ENSG00000185352		0.622	HS6ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS6ST3	HGNC	protein_coding	OTTHUMT00000045517.2	35	0.00	0	C	NM_153456		96743542	96743542	+1	no_errors	ENST00000376705	ensembl	human	known	69_37n	missense	25	28.57	10	SNP	1.000	G
HSBP1	3281	genome.wustl.edu	37	16	83842947	83842947	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:83842947G>C	ENST00000433866.2	+	3	384	c.150G>C	c.(148-150)aaG>aaC	p.K50N	RP11-483P21.2_ENST00000561599.1_RNA|HSBP1_ENST00000570259.1_Missense_Mutation_p.K50N	NM_001537.3	NP_001528.1	O75506	HSBP1_HUMAN	heat shock factor binding protein 1	50					muscle contraction (GO:0006936)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)						all_cancers(2;0.00573)|all_epithelial(2;0.0309)		BRCA - Breast invasive adenocarcinoma(80;0.0404)		ATCTGGAAAAGAATATCGCGG	0.478																																						dbGAP											0													62.0	61.0	61.0					16																	83842947		1984	4148	6132	-	-	-	SO:0001583	missense	0			AF068754	CCDS45534.1	16q23.3	2008-02-05				ENSG00000230989			5203	protein-coding gene	gene with protein product		604553				9649501, 9493008	Standard	NM_001537		Approved		uc002fgy.2	O75506		ENST00000433866.2:c.150G>C	16.37:g.83842947G>C	ENSP00000392896:p.Lys50Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53XA8|Q7Z5Z3	Missense_Mutation	SNP	pfam_HS1-bd	p.K50N	ENST00000433866.2	37	c.150	CCDS45534.1	16	.	.	.	.	.	.	.	.	.	.	G	12.26	1.884293	0.33255	.	.	ENSG00000230989	ENST00000433866	.	.	.	4.82	-5.82	0.02333	Four-helical cytokine, core (1);	0.092424	0.64402	D	0.000001	T	0.47525	0.1450	.	.	.	0.50632	D	0.999889	P	0.42692	0.787	B	0.42653	0.394	T	0.52660	-0.8546	8	0.56958	D	0.05	-11.4507	10.9953	0.47571	0.3123:0.1039:0.5837:0.0	.	50	O75506	HSBP1_HUMAN	N	50	.	ENSP00000392896:K50N	K	+	3	2	HSBP1	82400448	0.671000	0.27521	0.843000	0.33291	0.260000	0.26232	-0.173000	0.09854	-1.159000	0.02807	-0.471000	0.05019	AAG	HSBP1	-	pfam_HS1-bd	ENSG00000230989		0.478	HSBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSBP1	HGNC	protein_coding	OTTHUMT00000433004.1	118	0.00	0	G	NM_001537		83842947	83842947	+1	no_errors	ENST00000433866	ensembl	human	known	69_37n	missense	122	21.79	34	SNP	0.750	C
HSCB	150274	genome.wustl.edu	37	22	29138168	29138168	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:29138168G>A	ENST00000216027.3	+	1	150	c.85G>A	c.(85-87)Gat>Aat	p.D29N	CHEK2_ENST00000544772.1_5'UTR|CHEK2_ENST00000382566.1_5'Flank|HSCB_ENST00000398941.2_Missense_Mutation_p.D29N|CHEK2_ENST00000328354.6_5'Flank|CHEK2_ENST00000382578.1_5'Flank|CHEK2_ENST00000382565.1_5'Flank|CHEK2_ENST00000405598.1_5'Flank|CHEK2_ENST00000382580.2_5'Flank|CHEK2_ENST00000348295.3_5'Flank	NM_172002.3	NP_741999.3	Q8IWL3	HSC20_HUMAN	HscB mitochondrial iron-sulfur cluster co-chaperone	29					iron-sulfur cluster assembly (GO:0016226)|protein folding (GO:0006457)|protein oligomerization (GO:0051259)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			kidney(1)|lung(2)|skin(1)	4						GCTAAGCTGCGATGCTGCGTC	0.682																																						dbGAP											0													19.0	21.0	20.0					22																	29138168		2203	4299	6502	-	-	-	SO:0001583	missense	0			AY191719	CCDS13845.1	22q12.1	2013-09-12	2013-09-12		ENSG00000100209	ENSG00000100209		"""Heat shock proteins / DNAJ (HSP40)"""	28913	protein-coding gene	gene with protein product	"""DnaJ (Hsp40) homolog, subfamily C, member 20"""	608142	"""HscB iron-sulfur cluster co-chaperone homolog (E. coli)"""			12938016, 16952052	Standard	NM_172002		Approved	HSC20, DNAJC20, Jac1	uc003aea.3	Q8IWL3	OTTHUMG00000151092	ENST00000216027.3:c.85G>A	22.37:g.29138168G>A	ENSP00000216027:p.Asp29Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BWS7	Missense_Mutation	SNP	pfam_Heat_shock_cognate_B_oligo_C,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_Heat_shock_cognate_B_oligo_C,tigrfam_HscB	p.D29N	ENST00000216027.3	37	c.85	CCDS13845.1	22	.	.	.	.	.	.	.	.	.	.	G	8.972	0.973098	0.18736	.	.	ENSG00000100209	ENST00000216027;ENST00000398941	T;T	0.41065	1.58;1.01	5.4	-2.39	0.06602	.	0.846328	0.11035	N	0.606759	T	0.08537	0.0212	N	0.00347	-1.61	0.19575	N	0.999964	B	0.02656	0.0	B	0.01281	0.0	T	0.32693	-0.9897	10	0.02654	T	1	-3.3896	6.5837	0.22609	0.2572:0.3955:0.3472:0.0	.	29	Q8IWL3	HSC20_HUMAN	N	29	ENSP00000216027:D29N;ENSP00000381914:D29N	ENSP00000216027:D29N	D	+	1	0	HSCB	27468168	0.000000	0.05858	0.571000	0.28486	0.191000	0.23601	-0.309000	0.08145	-0.733000	0.04850	0.561000	0.74099	GAT	HSCB	-	NULL	ENSG00000100209		0.682	HSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSCB	HGNC	protein_coding	OTTHUMT00000321263.1	20	0.00	0	G	NM_172002		29138168	29138168	+1	no_errors	ENST00000216027	ensembl	human	known	69_37n	missense	24	28.57	10	SNP	0.823	A
HSD17B2	3294	genome.wustl.edu	37	16	82124603	82124603	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:82124603G>T	ENST00000199936.4	+	4	954	c.761G>T	c.(760-762)gGa>gTa	p.G254V	RP11-510J16.5_ENST00000567021.1_RNA	NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	254					in utero embryonic development (GO:0001701)|placenta development (GO:0001890)|response to retinoic acid (GO:0032526)|steroid biosynthetic process (GO:0006694)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity (GO:0047006)|estradiol 17-beta-dehydrogenase activity (GO:0004303)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						TCCAAGTGGGGAATTAAAGTT	0.502																																						dbGAP											0													109.0	104.0	106.0					16																	82124603		2201	4300	6501	-	-	-	SO:0001583	missense	0				CCDS10936.1	16q24.1-q24.2	2011-09-14			ENSG00000086696	ENSG00000086696	1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	5211	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 9C, member 2"""	109685				7759109, 19027726	Standard	NM_002153		Approved	HSD17, SDR9C2	uc002fgv.3	P37059	OTTHUMG00000137631	ENST00000199936.4:c.761G>T	16.37:g.82124603G>T	ENSP00000199936:p.Gly254Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7T4	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.G254V	ENST00000199936.4	37	c.761	CCDS10936.1	16	.	.	.	.	.	.	.	.	.	.	g	14.45	2.537827	0.45176	.	.	ENSG00000086696	ENST00000199936	T	0.60299	0.2	5.65	4.7	0.59300	NAD(P)-binding domain (1);	0.055342	0.64402	D	0.000001	T	0.78349	0.4269	M	0.88640	2.97	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.82380	-0.0486	10	0.87932	D	0	.	12.3882	0.55345	0.0819:0.0:0.9181:0.0	.	254	P37059	DHB2_HUMAN	V	254	ENSP00000199936:G254V	ENSP00000199936:G254V	G	+	2	0	HSD17B2	80682104	1.000000	0.71417	0.892000	0.35008	0.097000	0.18754	5.832000	0.69337	1.390000	0.46547	0.650000	0.86243	GGA	HSD17B2	-	prints_Glc/ribitol_DH	ENSG00000086696		0.502	HSD17B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B2	HGNC	protein_coding	OTTHUMT00000269057.2	83	0.00	0	G	NM_002153		82124603	82124603	+1	no_errors	ENST00000199936	ensembl	human	known	69_37n	missense	97	17.09	20	SNP	0.986	T
HSD17B6	8630	genome.wustl.edu	37	12	57178647	57178647	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:57178647C>T	ENST00000554643.1	+	5	932	c.583C>T	c.(583-585)Caa>Taa	p.Q195*	HSD17B6_ENST00000322165.1_Nonsense_Mutation_p.Q195*|HSD17B6_ENST00000555805.1_Nonsense_Mutation_p.Q195*|HSD17B6_ENST00000555159.1_Nonsense_Mutation_p.Q195*|HSD17B6_ENST00000554150.1_Nonsense_Mutation_p.Q195*			O14756	H17B6_HUMAN	hydroxysteroid (17-beta) dehydrogenase 6	195					androgen biosynthetic process (GO:0006702)|androgen catabolic process (GO:0006710)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|intracellular (GO:0005622)|membrane (GO:0016020)	catalytic activity (GO:0003824)|electron carrier activity (GO:0009055)|estradiol 17-beta-dehydrogenase activity (GO:0004303)|oxidoreductase activity (GO:0016491)|retinol dehydrogenase activity (GO:0004745)|testosterone dehydrogenase (NAD+) activity (GO:0047035)	p.Q195*(1)		endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10					Succinic acid(DB00139)	GCGTGAGATTCAACATTTTGG	0.378																																						dbGAP											1	Substitution - Nonsense(1)	urinary_tract(1)											138.0	137.0	137.0					12																	57178647		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF016509	CCDS8925.1	12q13.3	2012-12-07	2012-12-07		ENSG00000025423	ENSG00000025423	1.1.1.62, 1.1.1.63, 1.1.1.105	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	23316	protein-coding gene	gene with protein product	"""oxidative 3-alpha-hydroxysteroid-dehydrogenase"", ""3(alpha->beta)-hydroxysteroid epimerasel"", ""retinol dehydrogenase"", ""oxidoreductase"", ""NAD+ -dependent 3 alpha-hydroxysteroid dehydrogenase"", ""3-hydroxysteroid epimerase"", ""short chain dehydrogenase/reductase family 9C, member 6"""	606623	"""hydroxysteroid (17-beta) dehydrogenase 6"", ""hydroxysteroid (17-beta) dehydrogenase 6 homolog (mouse)"""			11165032, 19027726	Standard	XM_005269207		Approved	HSE, RODH, SDR9C6	uc001smg.1	O14756	OTTHUMG00000170854	ENST00000554643.1:c.583C>T	12.37:g.57178647C>T	ENSP00000451406:p.Gln195*	Somatic		WXS	Illumina GAIIx	Phase_IV	O43275	Nonsense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.Q195*	ENST00000554643.1	37	c.583	CCDS8925.1	12	.	.	.	.	.	.	.	.	.	.	c	38	6.947509	0.97956	.	.	ENSG00000025423	ENST00000555159;ENST00000555805;ENST00000554643;ENST00000554150;ENST00000322165	.	.	.	4.21	-0.0779	0.13716	.	1.746250	0.03212	N	0.176304	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.9975	0.14247	0.5786:0.243:0.0:0.1784	.	.	.	.	X	195	.	ENSP00000318631:Q195X	Q	+	1	0	HSD17B6	55464914	0.000000	0.05858	0.003000	0.11579	0.763000	0.43281	0.039000	0.13884	-0.221000	0.09973	-0.187000	0.12897	CAA	HSD17B6	-	prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	ENSG00000025423		0.378	HSD17B6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HSD17B6	HGNC	protein_coding	OTTHUMT00000410714.1	76	0.00	0	C	NM_003725		57178647	57178647	+1	no_errors	ENST00000322165	ensembl	human	known	69_37n	nonsense	60	37.76	37	SNP	0.000	T
HSF2BP	11077	genome.wustl.edu	37	21	45033732	45033732	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr21:45033732C>G	ENST00000291560.2	-	7	1002	c.671G>C	c.(670-672)gGa>gCa	p.G224A	HSF2BP_ENST00000542962.1_Missense_Mutation_p.G149A	NM_007031.1	NP_008962.1	O75031	HSF2B_HUMAN	heat shock transcription factor 2 binding protein	224					spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)				kidney(2)|large_intestine(3)|prostate(1)|skin(1)	7				STAD - Stomach adenocarcinoma(101;0.18)		GGTACACTGTCCTGGCTTCAA	0.408																																						dbGAP											0													105.0	100.0	102.0					21																	45033732		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007131	CCDS13697.1	21q22.3	2008-07-31			ENSG00000160207	ENSG00000160207			5226	protein-coding gene	gene with protein product	"""heat shock factor 2 binding protein"""	604554				9651507	Standard	XM_005261090		Approved		uc002zdi.3	O75031	OTTHUMG00000086863	ENST00000291560.2:c.671G>C	21.37:g.45033732C>G	ENSP00000291560:p.Gly224Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DX36	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.G224A	ENST00000291560.2	37	c.671	CCDS13697.1	21	.	.	.	.	.	.	.	.	.	.	C	21.4	4.138308	0.77775	.	.	ENSG00000160207	ENST00000291560;ENST00000542962	T;T	0.65916	-0.18;-0.18	5.77	5.77	0.91146	Armadillo-like helical (1);Armadillo-type fold (1);	0.046950	0.85682	D	0.000000	T	0.75049	0.3797	L	0.56769	1.78	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67783	-0.5581	10	0.19590	T	0.45	-8.4122	17.2614	0.87071	0.0:1.0:0.0:0.0	.	224	O75031	HSF2B_HUMAN	A	224;149	ENSP00000291560:G224A;ENSP00000443367:G149A	ENSP00000291560:G224A	G	-	2	0	HSF2BP	43858160	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.064000	0.64338	2.884000	0.98904	0.655000	0.94253	GGA	HSF2BP	-	superfamily_ARM-type_fold	ENSG00000160207		0.408	HSF2BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSF2BP	HGNC	protein_coding	OTTHUMT00000195620.1	87	0.00	0	C	NM_007031		45033732	45033732	-1	no_errors	ENST00000291560	ensembl	human	known	69_37n	missense	61	19.74	15	SNP	1.000	G
HSP90AB1	3326	genome.wustl.edu	37	6	44221044	44221044	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:44221044C>G	ENST00000371554.1	+	11	2208	c.1994C>G	c.(1993-1995)tCt>tGt	p.S665C	HSP90AB1_ENST00000353801.3_Missense_Mutation_p.S665C|HSP90AB1_ENST00000371646.5_Missense_Mutation_p.S665C|MIR4647_ENST00000583964.1_RNA|SLC35B2_ENST00000495706.1_5'Flank			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	665					axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GCCCTGCTATCTTCTGGCTTT	0.532																																						dbGAP											0													331.0	336.0	334.0					6																	44221044		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384		"""Heat shock proteins / HSPC"""	5258	protein-coding gene	gene with protein product		140572	"""heat shock 90kD protein 1, beta"", ""heat shock 90kDa protein 1, beta"""	HSPC2, HSPCB		2768249, 16269234	Standard	NM_001271969		Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.1994C>G	6.37:g.44221044C>G	ENSP00000360609:p.Ser665Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Missense_Mutation	SNP	pfam_Hsp90,pfam_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pirsf_Hsp90,prints_Hsp90_N	p.S665C	ENST00000371554.1	37	c.1994	CCDS4909.1	6	.	.	.	.	.	.	.	.	.	.	C	14.11	2.438813	0.43326	.	.	ENSG00000096384	ENST00000371646;ENST00000353801;ENST00000371554	T;T;T	0.10573	2.86;2.86;2.86	4.56	4.56	0.56223	.	0.000000	0.64402	U	0.000001	T	0.10981	0.0268	M	0.78344	2.41	0.80722	D	1	B;B;B	0.28208	0.095;0.022;0.203	B;B;B	0.30316	0.114;0.111;0.078	T	0.02781	-1.1111	10	0.59425	D	0.04	-5.7706	17.6805	0.88241	0.0:1.0:0.0:0.0	.	627;655;665	B4DMA2;B4DGL0;P08238	.;.;HS90B_HUMAN	C	665	ENSP00000360709:S665C;ENSP00000325875:S665C;ENSP00000360609:S665C	ENSP00000325875:S665C	S	+	2	0	HSP90AB1	44329022	1.000000	0.71417	0.451000	0.26982	0.055000	0.15305	7.779000	0.85648	2.265000	0.75225	0.508000	0.49915	TCT	HSP90AB1	-	pfam_Hsp90,pirsf_Hsp90	ENSG00000096384		0.532	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HSP90AB1	HGNC	protein_coding	OTTHUMT00000040730.1	124	0.80	1	C	NM_007355		44221044	44221044	+1	no_errors	ENST00000353801	ensembl	human	known	69_37n	missense	107	26.21	38	SNP	0.998	G
HSP90B1	7184	genome.wustl.edu	37	12	104326177	104326177	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:104326177C>T	ENST00000299767.5	+	3	457	c.275C>T	c.(274-276)tCa>tTa	p.S92L	MIR3652_ENST00000579335.1_RNA|RP11-642P15.1_ENST00000548897.1_RNA	NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	92					actin rod assembly (GO:0031247)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to ATP (GO:0071318)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|protein folding (GO:0006457)|protein transport (GO:0015031)|regulation of phosphoprotein phosphatase activity (GO:0043666)|response to hypoxia (GO:0001666)|sequestering of calcium ion (GO:0051208)|toll-like receptor signaling pathway (GO:0002224)	cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|low-density lipoprotein particle receptor binding (GO:0050750)|protein phosphatase binding (GO:0019903)|RNA binding (GO:0003723)|virion binding (GO:0046790)			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	ATCATCAATTCATTGTATAAA	0.313																																						dbGAP											0													66.0	65.0	65.0					12																	104326177		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY040226	CCDS9094.1	12q24.2-q24.3	2011-09-02	2006-02-24	2006-02-24		ENSG00000166598		"""Heat shock proteins / HSPC"""	12028	protein-coding gene	gene with protein product		191175	"""tumor rejection antigen (gp96) 1"""	TRA1		16269234	Standard	NM_003299		Approved	GP96, GRP94	uc001tkb.2	P14625	OTTHUMG00000170118	ENST00000299767.5:c.275C>T	12.37:g.104326177C>T	ENSP00000299767:p.Ser92Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96A97	Missense_Mutation	SNP	pirsf_Hsp90,pfam_Hsp90,pfam_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,prints_Hsp90_N	p.S92L	ENST00000299767.5	37	c.275	CCDS9094.1	12	.	.	.	.	.	.	.	.	.	.	C	21.5	4.155071	0.78114	.	.	ENSG00000166598	ENST00000549334;ENST00000299767;ENST00000537375	T;D	0.88586	-1.15;-2.4	5.95	5.95	0.96441	Heat shock protein Hsp90, N-terminal (1);ATPase-like, ATP-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.96470	0.8848	H	0.94847	3.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.96761	0.9561	10	0.87932	D	0	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	118;92	Q59FC6;P14625	.;ENPL_HUMAN	L	8;92;92	ENSP00000446748:S8L;ENSP00000299767:S92L	ENSP00000299767:S92L	S	+	2	0	HSP90B1	102850307	1.000000	0.71417	0.989000	0.46669	0.093000	0.18481	7.818000	0.86416	2.824000	0.97209	0.655000	0.94253	TCA	HSP90B1	-	pirsf_Hsp90,superfamily_ATPase-like_ATP-bd,prints_Hsp90_N	ENSG00000166598		0.313	HSP90B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSP90B1	HGNC	protein_coding	OTTHUMT00000407349.1	61	0.00	0	C	NM_003299		104326177	104326177	+1	no_errors	ENST00000299767	ensembl	human	known	69_37n	missense	41	18.00	9	SNP	1.000	T
HSPA12B	116835	genome.wustl.edu	37	20	3731521	3731521	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:3731521C>T	ENST00000254963.2	+	12	1517	c.1372C>T	c.(1372-1374)Cag>Tag	p.Q458*	HSPA12B_ENST00000542646.1_Nonsense_Mutation_p.Q292*	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	458							ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						CGAGCTCTTTCAGCCCACCGT	0.542																																						dbGAP											0													162.0	138.0	147.0					20																	3731521		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK056712	CCDS13061.1	20p13	2011-09-02	2003-04-10	2003-04-10	ENSG00000132622	ENSG00000132622		"""Heat shock proteins / HSP70"""	16193	protein-coding gene	gene with protein product		610702	"""chromosome 20 open reading frame 60"""	C20orf60		12552099	Standard	NM_052970		Approved	dJ1009E24.2	uc002wjd.3	Q96MM6	OTTHUMG00000031755	ENST00000254963.2:c.1372C>T	20.37:g.3731521C>T	ENSP00000254963:p.Gln458*	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DVX7|Q2TAK3|Q9BR52	Nonsense_Mutation	SNP	NULL	p.Q458*	ENST00000254963.2	37	c.1372	CCDS13061.1	20	.	.	.	.	.	.	.	.	.	.	C	42	9.263208	0.99118	.	.	ENSG00000132622	ENST00000254963;ENST00000542646;ENST00000399701	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	0.0344	17.2918	0.87159	0.0:1.0:0.0:0.0	.	.	.	.	X	458;292;372	.	ENSP00000254963:Q458X	Q	+	1	0	HSPA12B	3679521	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.453000	0.35167	2.677000	0.91161	0.563000	0.77884	CAG	HSPA12B	-	NULL	ENSG00000132622		0.542	HSPA12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA12B	HGNC	protein_coding	OTTHUMT00000077756.2	76	0.00	0	C	NM_052970		3731521	3731521	+1	no_errors	ENST00000254963	ensembl	human	known	69_37n	nonsense	72	37.39	43	SNP	1.000	T
HSPA4	3308	genome.wustl.edu	37	5	132403211	132403211	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:132403211G>T	ENST00000304858.2	+	3	557	c.268G>T	c.(268-270)Gat>Tat	p.D90Y		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	90					chaperone-mediated protein complex assembly (GO:0051131)|protein import into mitochondrial outer membrane (GO:0045040)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCTTGCATATGATATTGTGCA	0.338																																					Colon(114;1299 1588 6063 12302 48757)	dbGAP											0													98.0	97.0	97.0					5																	132403211		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023420	CCDS4166.1	5q31.1	2011-09-07	2002-08-29		ENSG00000170606	ENSG00000170606		"""Heat shock proteins / HSP70"""	5237	protein-coding gene	gene with protein product	"""hsp70 RY"""	601113	"""heat shock 70kD protein 4"""			8335910	Standard	NM_002154		Approved	HS24/P52, HSPH2	uc003kyj.3	P34932	OTTHUMG00000129012	ENST00000304858.2:c.268G>T	5.37:g.132403211G>T	ENSP00000302961:p.Asp90Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	O95756|Q2TAL4|Q9BUK9	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.D90Y	ENST00000304858.2	37	c.268	CCDS4166.1	5	.	.	.	.	.	.	.	.	.	.	G	23.5	4.426092	0.83667	.	.	ENSG00000170606	ENST00000304858;ENST00000321956;ENST00000537974	T	0.01034	5.42	5.97	5.97	0.96955	.	0.095315	0.64402	D	0.000001	T	0.03434	0.0099	L	0.60455	1.87	0.58432	D	0.999999	P	0.48503	0.911	P	0.51742	0.678	T	0.47142	-0.9140	10	0.72032	D	0.01	-25.2952	20.4387	0.99107	0.0:0.0:1.0:0.0	.	90	P34932	HSP74_HUMAN	Y	90	ENSP00000302961:D90Y	ENSP00000302961:D90Y	D	+	1	0	HSPA4	132431110	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	7.416000	0.80143	2.836000	0.97738	0.655000	0.94253	GAT	HSPA4	-	pfam_Hsp_70_fam	ENSG00000170606		0.338	HSPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA4	HGNC	protein_coding	OTTHUMT00000251011.1	102	0.00	0	G	NM_002154, NM_198431		132403211	132403211	+1	no_errors	ENST00000304858	ensembl	human	known	69_37n	missense	78	24.27	25	SNP	1.000	T
HSPA4	3308	genome.wustl.edu	37	5	132424819	132424819	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:132424819C>T	ENST00000304858.2	+	10	1499	c.1210C>T	c.(1210-1212)Ctg>Ttg	p.L404L		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	404					chaperone-mediated protein complex assembly (GO:0051131)|protein import into mitochondrial outer membrane (GO:0045040)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCCAATATCTCTGAGATGGAA	0.328																																					Colon(114;1299 1588 6063 12302 48757)	dbGAP											0													101.0	103.0	102.0					5																	132424819		2203	4298	6501	-	-	-	SO:0001819	synonymous_variant	0			AB023420	CCDS4166.1	5q31.1	2011-09-07	2002-08-29		ENSG00000170606	ENSG00000170606		"""Heat shock proteins / HSP70"""	5237	protein-coding gene	gene with protein product	"""hsp70 RY"""	601113	"""heat shock 70kD protein 4"""			8335910	Standard	NM_002154		Approved	HS24/P52, HSPH2	uc003kyj.3	P34932	OTTHUMG00000129012	ENST00000304858.2:c.1210C>T	5.37:g.132424819C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O95756|Q2TAL4|Q9BUK9	Silent	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.L404	ENST00000304858.2	37	c.1210	CCDS4166.1	5																																																																																			HSPA4	-	pfam_Hsp_70_fam	ENSG00000170606		0.328	HSPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA4	HGNC	protein_coding	OTTHUMT00000251011.1	114	0.00	0	C	NM_002154, NM_198431		132424819	132424819	+1	no_errors	ENST00000304858	ensembl	human	known	69_37n	silent	79	27.52	30	SNP	1.000	T
HSPA8	3312	genome.wustl.edu	37	11	122931962	122931962	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:122931962C>T	ENST00000532636.1	-	2	190	c.71G>A	c.(70-72)gGa>gAa	p.G24E	HSPA8_ENST00000526862.1_5'Flank|HSPA8_ENST00000227378.3_Missense_Mutation_p.G24E|HSPA8_ENST00000534624.1_Missense_Mutation_p.G24E|SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000526110.1_Missense_Mutation_p.G24E|HSPA8_ENST00000534319.1_5'Flank|HSPA8_ENST00000533540.1_Missense_Mutation_p.G24E|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000453788.2_Missense_Mutation_p.G24E			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	24					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)	p.G24E(1)		breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CTCGACTTTTCCGTGCTGGAA	0.463																																					Colon(21;486 594 5900 6733 14272)	dbGAP											1	Substitution - Missense(1)	lung(1)											76.0	66.0	69.0					11																	122931962		2202	4299	6501	-	-	-	SO:0001583	missense	0			Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"""Heat shock proteins / HSP70"""	5241	protein-coding gene	gene with protein product		600816	"""heat shock 70kD protein 8"""	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.71G>A	11.37:g.122931962C>T	ENSP00000437125:p.Gly24Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H3R6	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.G24E	ENST00000532636.1	37	c.71	CCDS8440.1	11	.	.	.	.	.	.	.	.	.	.	C	31	5.101173	0.94245	.	.	ENSG00000109971	ENST00000532636;ENST00000533540;ENST00000534624;ENST00000453788;ENST00000227378;ENST00000526110;ENST00000525463;ENST00000525624;ENST00000534567;ENST00000527387;ENST00000532182;ENST00000524590;ENST00000530391	T;T;T;T;T;T;T;T;T;T;T;T;T	0.05855	3.38;3.38;3.38;3.38;3.38;3.38;3.38;3.38;3.38;3.38;3.38;3.38;3.38	4.42	4.42	0.53409	.	0.000000	0.85682	D	0.000000	T	0.23886	0.0578	M	0.70275	2.135	0.80722	D	1	P;P;P;P;P	0.51653	0.947;0.88;0.917;0.899;0.88	P;D;B;B;D	0.65323	0.846;0.934;0.387;0.268;0.934	T	0.01528	-1.1332	10	0.87932	D	0	-7.6013	17.4081	0.87479	0.0:1.0:0.0:0.0	.	24;24;24;24;24	B4DTX2;Q53GZ6;E7ET08;P11142-2;P11142	.;.;.;.;HSP7C_HUMAN	E	24	ENSP00000437125:G24E;ENSP00000437189:G24E;ENSP00000432083:G24E;ENSP00000404372:G24E;ENSP00000227378:G24E;ENSP00000433584:G24E;ENSP00000436762:G24E;ENSP00000435154:G24E;ENSP00000431641:G24E;ENSP00000436183:G24E;ENSP00000434415:G24E;ENSP00000434565:G24E;ENSP00000434851:G24E	ENSP00000227378:G24E	G	-	2	0	HSPA8	122437172	1.000000	0.71417	0.975000	0.42487	0.982000	0.71751	7.818000	0.86416	2.151000	0.67156	0.484000	0.47621	GGA	HSPA8	-	pfam_Hsp_70_fam	ENSG00000109971		0.463	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	HSPA8	HGNC	protein_coding	OTTHUMT00000387515.1	81	0.00	0	C			122931962	122931962	-1	no_errors	ENST00000534624	ensembl	human	known	69_37n	missense	78	20.41	20	SNP	1.000	T
HSPA9	3313	genome.wustl.edu	37	5	137893676	137893676	+	Splice_Site	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:137893676C>G	ENST00000297185.3	-	13	1641		c.e13-1		SNORD63_ENST00000411005.1_RNA|HSPA9_ENST00000501917.2_Intron	NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)						cellular protein metabolic process (GO:0044267)|negative regulation of apoptotic process (GO:0043066)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GAATTCCAATCTAAAATAAAT	0.388																																						dbGAP											0													46.0	49.0	48.0					5																	137893676		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			L11066	CCDS4208.1	5q31.1	2011-09-02	2006-10-31	2006-10-31	ENSG00000113013	ENSG00000113013		"""Heat shock proteins / HSP70"""	5244	protein-coding gene	gene with protein product		600548	"""heat shock 70kDa protein 9B (mortalin-2)"""	HSPA9B		7684501	Standard	NM_004134		Approved	GRP75, PBP74, mot-2, mthsp75	uc003ldf.3	P38646	OTTHUMG00000129206	ENST00000297185.3:c.1516-1G>C	5.37:g.137893676C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCM1|P30036|P31932|Q1HB43|Q53H23|Q6GU03|Q9BWB7|Q9UC56	Splice_Site	SNP	-	e13-1	ENST00000297185.3	37	c.1516-1	CCDS4208.1	5	.	.	.	.	.	.	.	.	.	.	C	18.90	3.722255	0.68959	.	.	ENSG00000113013	ENST00000297185;ENST00000541333;ENST00000540484	.	.	.	4.36	4.36	0.52297	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0425	0.86493	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HSPA9	137921575	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.847000	0.75404	2.430000	0.82344	0.655000	0.94253	.	HSPA9	-	-	ENSG00000113013		0.388	HSPA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA9	HGNC	protein_coding	OTTHUMT00000251285.1	48	0.00	0	C	NM_004134	Intron	137893676	137893676	-1	no_errors	ENST00000297185	ensembl	human	known	69_37n	splice_site	45	22.41	13	SNP	1.000	G
HSPA9	3313	genome.wustl.edu	37	5	137902325	137902325	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:137902325G>A	ENST00000297185.3	-	9	1087	c.962C>T	c.(961-963)tCa>tTa	p.S321L	HSPA9_ENST00000501917.2_5'UTR	NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	321					cellular protein metabolic process (GO:0044267)|negative regulation of apoptotic process (GO:0043066)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CTGCACAGATGAGGAGAGTTC	0.403																																						dbGAP											0													150.0	137.0	141.0					5																	137902325		2203	4300	6503	-	-	-	SO:0001583	missense	0			L11066	CCDS4208.1	5q31.1	2011-09-02	2006-10-31	2006-10-31	ENSG00000113013	ENSG00000113013		"""Heat shock proteins / HSP70"""	5244	protein-coding gene	gene with protein product		600548	"""heat shock 70kDa protein 9B (mortalin-2)"""	HSPA9B		7684501	Standard	NM_004134		Approved	GRP75, PBP74, mot-2, mthsp75	uc003ldf.3	P38646	OTTHUMG00000129206	ENST00000297185.3:c.962C>T	5.37:g.137902325G>A	ENSP00000297185:p.Ser321Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCM1|P30036|P31932|Q1HB43|Q53H23|Q6GU03|Q9BWB7|Q9UC56	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,pfam_Carb_kinase_FGGY_C,prints_Hsp_70_fam,tigrfam_Chaperone_DnaK	p.S321L	ENST00000297185.3	37	c.962	CCDS4208.1	5	.	.	.	.	.	.	.	.	.	.	G	27.8	4.865238	0.91511	.	.	ENSG00000113013	ENST00000297185;ENST00000541333;ENST00000540484	T	0.01145	5.27	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.15305	0.0369	H	0.98314	4.2	0.80722	D	1	D;D	0.67145	0.993;0.996	D;D	0.78314	0.973;0.991	T	0.32481	-0.9905	10	0.87932	D	0	-6.8797	18.2292	0.89928	0.0:0.0:1.0:0.0	.	252;321	B7Z1V7;P38646	.;GRP75_HUMAN	L	321;274;307	ENSP00000297185:S321L	ENSP00000297185:S321L	S	-	2	0	HSPA9	137930224	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.694000	0.84235	2.458000	0.83093	0.591000	0.81541	TCA	HSPA9	-	pfam_Hsp_70_fam,pfam_MreB_Mrl,tigrfam_Chaperone_DnaK	ENSG00000113013		0.403	HSPA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA9	HGNC	protein_coding	OTTHUMT00000251285.1	111	0.00	0	G	NM_004134		137902325	137902325	-1	no_errors	ENST00000297185	ensembl	human	known	69_37n	missense	68	26.88	25	SNP	1.000	A
HSPD1	3329	genome.wustl.edu	37	2	198358088	198358088	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:198358088C>T	ENST00000388968.3	-	7	1096	c.829G>A	c.(829-831)Gat>Aat	p.D277N	HSPD1_ENST00000345042.2_Missense_Mutation_p.D277N	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	277					'de novo' protein folding (GO:0006458)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|ATP catabolic process (GO:0006200)|B cell activation (GO:0042113)|B cell cytokine production (GO:0002368)|B cell proliferation (GO:0042100)|chaperone-mediated protein complex assembly (GO:0051131)|isotype switching to IgG isotypes (GO:0048291)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell mediated immune response to tumor cell (GO:0002842)|protein maturation (GO:0051604)|protein refolding (GO:0042026)|protein stabilization (GO:0050821)|response to unfolded protein (GO:0006986)|T cell activation (GO:0042110)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lipopolysaccharide receptor complex (GO:0046696)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chaperone binding (GO:0051087)|DNA replication origin binding (GO:0003688)|double-stranded RNA binding (GO:0003725)|lipopolysaccharide binding (GO:0001530)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)|unfolded protein binding (GO:0051082)			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			CCATCAACATCTTCAGCGATT	0.368																																						dbGAP											0													138.0	140.0	139.0					2																	198358088		2203	4300	6503	-	-	-	SO:0001583	missense	0			M34664	CCDS33357.1	2q33.1	2011-09-02	2002-08-29		ENSG00000144381	ENSG00000144381		"""Heat Shock Proteins / Chaperonins"""	5261	protein-coding gene	gene with protein product		118190	"""heat shock 60kD protein 1 (chaperonin)"", ""spastic paraplegia 13 (autosomal dominant)"""	SPG13		1980192, 11898127	Standard	NM_002156		Approved	GROEL, HSP60	uc002uui.3	P10809	OTTHUMG00000154463	ENST00000388968.3:c.829G>A	2.37:g.198358088C>T	ENSP00000373620:p.Asp277Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5M6|B7Z712|Q38L19|Q9UCR6	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaprnin_Cpn60,prints_Chaperone_TCP-1,tigrfam_Chaprnin_Cpn60	p.D277N	ENST00000388968.3	37	c.829	CCDS33357.1	2	.	.	.	.	.	.	.	.	.	.	C	35	5.570088	0.96540	.	.	ENSG00000144381	ENST00000388968;ENST00000345042;ENST00000536745	T;T	0.79247	-1.25;-1.25	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	D	0.91425	0.7294	M	0.93241	3.395	0.80722	D	1	D;D;D	0.89917	0.996;0.998;1.0	D;D;D	0.91635	0.997;0.997;0.999	D	0.93517	0.6858	10	0.87932	D	0	-29.9514	18.8471	0.92212	0.0:1.0:0.0:0.0	.	268;277;277	B7Z597;B3GQS7;P10809	.;.;CH60_HUMAN	N	277;277;133	ENSP00000373620:D277N;ENSP00000340019:D277N	ENSP00000340019:D277N	D	-	1	0	HSPD1	198066333	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.722000	0.84778	2.532000	0.85374	0.585000	0.79938	GAT	HSPD1	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chaprnin_Cpn60	ENSG00000144381		0.368	HSPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPD1	HGNC	protein_coding	OTTHUMT00000335324.2	82	0.00	0	C	NM_002156		198358088	198358088	-1	no_errors	ENST00000345042	ensembl	human	known	69_37n	missense	70	15.66	13	SNP	1.000	T
HSPG2	3339	genome.wustl.edu	37	1	22160389	22160389	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:22160389C>G	ENST00000374695.3	-	78	10829	c.10750G>C	c.(10750-10752)Gtc>Ctc	p.V3584L		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3584	Ig-like C2-type 22.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GGCACACGGACTTCTTGGGGC	0.562																																						dbGAP											0													77.0	58.0	64.0					1																	22160389		2202	4300	6502	-	-	-	SO:0001583	missense	0			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.10750G>C	1.37:g.22160389C>G	ENSP00000363827:p.Val3584Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_dom,superfamily_ConA-like_lec_gl,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like	p.V3584L	ENST00000374695.3	37	c.10750	CCDS30625.1	1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.702385	0.30232	.	.	ENSG00000142798	ENST00000374695;ENST00000426143	T;T	0.69561	-0.41;2.61	4.96	4.03	0.46877	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.240373	0.21335	N	0.076224	T	0.53753	0.1816	N	0.13098	0.295	0.22779	N	0.998749	B;P	0.34977	0.122;0.478	B;P	0.44359	0.213;0.447	T	0.46498	-0.9187	10	0.25106	T	0.35	.	9.2809	0.37727	0.0:0.8291:0.0:0.1709	.	1524;3584	Q59EG0;P98160	.;PGBM_HUMAN	L	3584;136	ENSP00000363827:V3584L;ENSP00000392022:V136L	ENSP00000363827:V3584L	V	-	1	0	HSPG2	22032976	1.000000	0.71417	0.987000	0.45799	0.972000	0.66771	1.306000	0.33505	1.181000	0.42912	0.313000	0.20887	GTC	HSPG2	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like	ENSG00000142798		0.562	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1	31	0.00	0	C	NM_005529		22160389	22160389	-1	no_errors	ENST00000374695	ensembl	human	known	69_37n	missense	36	20.00	9	SNP	0.999	G
HSPG2	3339	genome.wustl.edu	37	1	22216564	22216564	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:22216564G>A	ENST00000374695.3	-	6	563	c.484C>T	c.(484-486)Cag>Tag	p.Q162*		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	162	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	AGCATCTCCTGAATCTGAGCC	0.617																																						dbGAP											0													179.0	157.0	164.0					1																	22216564		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.484C>T	1.37:g.22216564G>A	ENSP00000363827:p.Gln162*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16287|Q5SZI3|Q9H3V5	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_dom,superfamily_ConA-like_lec_gl,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like	p.Q162*	ENST00000374695.3	37	c.484	CCDS30625.1	1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.495209	0.26774	.	.	ENSG00000142798	ENST00000374695;ENST00000439717	.	.	.	5.34	3.41	0.39046	.	0.000000	0.36374	N	0.002639	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	13.6111	0.62078	0.0:0.297:0.703:0.0	.	.	.	.	X	162;128	.	ENSP00000363827:Q162X	Q	-	1	0	HSPG2	22089151	1.000000	0.71417	0.943000	0.38184	0.062000	0.15995	2.270000	0.43355	0.763000	0.33175	0.585000	0.79938	CAG	HSPG2	-	smart_SEA,pfscan_SEA	ENSG00000142798		0.617	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1	124	0.00	0	G	NM_005529		22216564	22216564	-1	no_errors	ENST00000374695	ensembl	human	known	69_37n	nonsense	97	19.83	24	SNP	0.999	A
HTATIP2	10553	genome.wustl.edu	37	11	20404603	20404603	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:20404603C>T	ENST00000451739.2	+	5	1022	c.581C>T	c.(580-582)tCt>tTt	p.S194F	HTATIP2_ENST00000419348.2_Missense_Mutation_p.S228F|HTATIP2_ENST00000443524.2_Missense_Mutation_p.S194F|HTATIP2_ENST00000421577.2_Missense_Mutation_p.S194F|HTATIP2_ENST00000531058.1_Missense_Mutation_p.S148F	NM_001098522.1	NP_001091992.1			HIV-1 Tat interactive protein 2, 30kDa											large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						TTACCAGACTCTTGGGCCAGT	0.448																																						dbGAP											0													83.0	66.0	72.0					11																	20404603		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF039103	CCDS7852.1, CCDS44553.1, CCDS53613.1	11p15.1	2011-09-14	2002-08-29		ENSG00000109854	ENSG00000109854	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	16637	protein-coding gene	gene with protein product	"""Tat-interacting protein (30kD)"", ""short chain dehydrogenase/reductase family 44U, member 1"""	605628	"""HIV-1 Tat interactive protein 2, 30 kDa"""			9482853, 9174052, 19027726	Standard	NM_006410		Approved	TIP30, CC3, FLJ26963, SDR44U1	uc001mpx.2	Q9BUP3	OTTHUMG00000166015	ENST00000451739.2:c.581C>T	11.37:g.20404603C>T	ENSP00000394259:p.Ser194Phe	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Semialdehyde_DH_NAD-bd	p.S228F	ENST00000451739.2	37	c.683	CCDS7852.1	11	.	.	.	.	.	.	.	.	.	.	C	14.28	2.488523	0.44249	.	.	ENSG00000109854	ENST00000421577;ENST00000443524;ENST00000419348;ENST00000451739;ENST00000531058	T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.57	6.07	5.16	0.70880	NAD(P)-binding domain (1);	0.376385	0.29684	N	0.011467	T	0.13200	0.0320	N	0.05574	-0.02	0.38429	D	0.946382	B;B	0.13594	0.001;0.008	B;B	0.04013	0.001;0.001	T	0.20538	-1.0272	10	0.09843	T	0.71	-6.2661	8.3212	0.32130	0.0:0.8386:0.0:0.1614	.	194;228	Q9BUP3;Q9BUP3-3	HTAI2_HUMAN;.	F	194;194;228;194;148	ENSP00000397752:S194F;ENSP00000387876:S194F;ENSP00000392985:S228F;ENSP00000394259:S194F;ENSP00000436729:S148F	ENSP00000392985:S228F	S	+	2	0	HTATIP2	20361179	0.039000	0.19947	0.982000	0.44146	0.195000	0.23768	1.960000	0.40422	2.885000	0.99019	0.655000	0.94253	TCT	HTATIP2	-	NULL	ENSG00000109854		0.448	HTATIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HTATIP2	HGNC	protein_coding	OTTHUMT00000387445.2	107	0.00	0	C	NM_001098521		20404603	20404603	+1	no_errors	ENST00000419348	ensembl	human	known	69_37n	missense	118	13.24	18	SNP	0.989	T
HTR1E	3354	genome.wustl.edu	37	6	87725863	87725863	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:87725863G>A	ENST00000305344.5	+	2	1514	c.811G>A	c.(811-813)Gat>Aat	p.D271N		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	271					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	CTTCGACAATGATCTAGATCA	0.512																																						dbGAP											0													170.0	162.0	165.0					6																	87725863		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5291	protein-coding gene	gene with protein product		182132	"""5-hydroxytryptamine (serotonin) receptor 1E"""			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.811G>A	6.37:g.87725863G>A	ENSP00000307766:p.Asp271Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P503|Q9P1Y1	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_7TM_GPCR_Rhodpsn,prints_5HT_rcpt,pfscan_GPCR_Rhodpsn_supfam	p.D271N	ENST00000305344.5	37	c.811	CCDS5006.1	6	.	.	.	.	.	.	.	.	.	.	G	7.179	0.589190	0.13812	.	.	ENSG00000168830	ENST00000305344;ENST00000369584	T;T	0.65732	-0.17;-0.17	4.24	3.33	0.38152	GPCR, rhodopsin-like superfamily (1);	0.084489	0.45606	U	0.000341	T	0.22475	0.0542	N	0.05050	-0.12	0.30837	N	0.736067	P	0.39216	0.664	B	0.41135	0.348	T	0.22417	-1.0217	10	0.17832	T	0.49	.	13.0443	0.58918	0.0:0.0:0.8375:0.1625	.	271	P28566	5HT1E_HUMAN	N	271	ENSP00000307766:D271N;ENSP00000358597:D271N	ENSP00000307766:D271N	D	+	1	0	HTR1E	87782582	1.000000	0.71417	0.998000	0.56505	0.489000	0.33432	6.567000	0.73983	0.734000	0.32515	0.205000	0.17691	GAT	HTR1E	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000168830		0.512	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1E	HGNC	protein_coding	OTTHUMT00000472488.2	105	0.00	0	G	NM_000865		87725863	87725863	+1	no_errors	ENST00000305344	ensembl	human	known	69_37n	missense	60	49.15	58	SNP	1.000	A
HTR2A	3356	genome.wustl.edu	37	13	47409028	47409028	+	Nonsense_Mutation	SNP	C	C	A	rs541770641		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr13:47409028C>A	ENST00000378688.4	-	3	1491	c.1360G>T	c.(1360-1362)Gaa>Taa	p.E454*	HTR2A_ENST00000542664.1_Nonsense_Mutation_p.E454*|HTR2A_ENST00000543956.1_Nonsense_Mutation_p.E370*			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	454					activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|behavioral response to cocaine (GO:0048148)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|memory (GO:0007613)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of vasoconstriction (GO:0045907)|protein localization to cytoskeleton (GO:0044380)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|regulation of hormone secretion (GO:0046883)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|sleep (GO:0030431)|synaptic transmission (GO:0007268)|temperature homeostasis (GO:0001659)|urinary bladder smooth muscle contraction (GO:0014832)	cell body fiber (GO:0070852)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Acepromazine(DB01614)|Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinitapride(DB08810)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Donepezil(DB00843)|Doxepin(DB01142)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Pergolide(DB01186)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GAAGCCTCTTCAGAATGCTGC	0.448																																						dbGAP											0													138.0	133.0	135.0					13																	47409028		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			X57830	CCDS9405.1, CCDS53867.1	13q14-q21	2012-08-08	2012-02-03		ENSG00000102468	ENSG00000102468		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5293	protein-coding gene	gene with protein product		182135	"""5-hydroxytryptamine (serotonin) receptor 2A"""	HTR2		8035173	Standard	NM_000621		Approved	5-HT2A	uc010acr.4	P28223	OTTHUMG00000016881	ENST00000378688.4:c.1360G>T	13.37:g.47409028C>A	ENSP00000367959:p.Glu454*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAC5|B4DZ79|F5GWE8|Q5T8C0	Nonsense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_5HT2A_rcpt,prints_7TM_GPCR_Rhodpsn,prints_5HT_rcpt	p.E454*	ENST00000378688.4	37	c.1360	CCDS9405.1	13	.	.	.	.	.	.	.	.	.	.	C	15.98	2.993573	0.54041	.	.	ENSG00000102468	ENST00000378688;ENST00000543956;ENST00000542664	.	.	.	5.73	4.89	0.63831	.	0.244437	0.40818	N	0.001014	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	.	14.1313	0.65255	0.0:0.9281:0.0:0.0719	.	.	.	.	X	454;370;454	.	ENSP00000367959:E454X	E	-	1	0	HTR2A	46307029	0.975000	0.34042	0.034000	0.17996	0.030000	0.12068	3.753000	0.55180	1.563000	0.49615	0.655000	0.94253	GAA	HTR2A	-	prints_5HT2A_rcpt	ENSG00000102468		0.448	HTR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR2A	HGNC	protein_coding	OTTHUMT00000044835.3	142	0.00	0	C	NM_000621		47409028	47409028	-1	no_errors	ENST00000378688	ensembl	human	known	69_37n	nonsense	43	70.55	103	SNP	0.160	A
HTR3A	3359	genome.wustl.edu	37	11	113860484	113860484	+	Nonstop_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:113860484G>C	ENST00000504030.2	+	9	1881	c.1436G>C	c.(1435-1437)tGa>tCa	p.*479S	HTR3A_ENST00000535865.1_Nonstop_Mutation_p.*223S|HTR3A_ENST00000355556.2_Nonstop_Mutation_p.*517S|HTR3A_ENST00000299961.5_Nonstop_Mutation_p.*464S|HTR3A_ENST00000375498.2_Nonstop_Mutation_p.*485S|HTR3A_ENST00000506841.2_Nonstop_Mutation_p.*511S			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	0					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	CAGTACGCTTGAGTGGGTACA	0.582																																						dbGAP											0													73.0	67.0	69.0					11																	113860484		2200	4296	6496	-	-	-	SO:0001578	stop_lost	0			D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5297	protein-coding gene	gene with protein product		182139	"""5-hydroxytryptamine (serotonin) receptor 3A"""	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.1436G>C	11.37:g.113860484G>C	ENSP00000424189:p.*479Serext*14	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Nonstop_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_5HT3_rcpt_A,prints_5HT3_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.*517S	ENST00000504030.2	37	c.1550		11	.	.	.	.	.	.	.	.	.	.	g	8.631	0.893640	0.17613	.	.	ENSG00000166736	ENST00000504030;ENST00000355556;ENST00000375498;ENST00000506841;ENST00000535865;ENST00000299961	.	.	.	5.3	-0.872	0.10638	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.483	0.38913	0.4098:0.0:0.5902:0.0	.	.	.	.	S	479;517;485;511;223;464	.	.	X	+	2	2	HTR3A	113365694	1.000000	0.71417	0.063000	0.19743	0.056000	0.15407	2.323000	0.43823	-0.459000	0.07013	-2.567000	0.00172	TGA	HTR3A	-	NULL	ENSG00000166736		0.582	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	HTR3A	HGNC	protein_coding	OTTHUMT00000360822.2	23	0.00	0	G	NM_000869		113860484	113860484	+1	no_errors	ENST00000355556	ensembl	human	known	69_37n	nonstop	11	45.00	9	SNP	0.984	C
HTR3C	170572	genome.wustl.edu	37	3	183772651	183772651	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:183772651C>T	ENST00000318351.1	+	2	244	c.210C>T	c.(208-210)ttC>ttT	p.F70F		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	70					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	ACATCTCCTTCACCCTGTCTG	0.527																																						dbGAP											0													129.0	104.0	113.0					3																	183772651		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF459285	CCDS3250.1	3q27	2012-05-22	2012-02-03		ENSG00000178084	ENSG00000178084		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24003	protein-coding gene	gene with protein product		610121	"""5-hydroxytryptamine (serotonin) receptor 3, family member C"""			12801637, 15157181	Standard	NM_130770		Approved		uc003fmk.3	Q8WXA8	OTTHUMG00000156862	ENST00000318351.1:c.210C>T	3.37:g.183772651C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRR5	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Neur_channel	p.F70	ENST00000318351.1	37	c.210	CCDS3250.1	3																																																																																			HTR3C	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd	ENSG00000178084		0.527	HTR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR3C	HGNC	protein_coding	OTTHUMT00000346296.1	45	0.00	0	C	NM_130770		183772651	183772651	+1	no_errors	ENST00000318351	ensembl	human	known	69_37n	silent	65	16.67	13	SNP	1.000	T
HTR3E	285242	genome.wustl.edu	37	3	183818345	183818345	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:183818345C>T	ENST00000415389.2	+	2	606	c.140C>T	c.(139-141)tCa>tTa	p.S47L	HTR3E_ENST00000440596.2_Missense_Mutation_p.S62L|HTR3E_ENST00000436361.2_Missense_Mutation_p.S62L|HTR3E-AS1_ENST00000431427.1_RNA|HTR3E_ENST00000425359.2_Missense_Mutation_p.S47L|HTR3E_ENST00000335304.2_Missense_Mutation_p.S62L	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	47					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	GCTCTGAATTCAGTGTTTAAT	0.527																																					Melanoma(7;227 727 6634 44770)	dbGAP											0													182.0	179.0	180.0					3																	183818345		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY159813	CCDS3251.1, CCDS58868.1, CCDS58869.1, CCDS58870.1, CCDS58871.1	3q27	2012-05-22	2012-02-03		ENSG00000186038	ENSG00000186038		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24005	protein-coding gene	gene with protein product		610123	"""5-hydroxytryptamine (serotonin) receptor 3, family member E"""			12801637, 15157181	Standard	NM_001256613		Approved		uc010hxr.3	A5X5Y0	OTTHUMG00000156857	ENST00000415389.2:c.140C>T	3.37:g.183818345C>T	ENSP00000401444:p.Ser47Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8IKD7|E9PGF1|Q495G1|Q495G3|Q6V706|Q6V707|Q7Z6B2	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Neur_channel	p.S62L	ENST00000415389.2	37	c.185	CCDS58868.1	3	.	.	.	.	.	.	.	.	.	.	c	13.78	2.340730	0.41498	.	.	ENSG00000186038	ENST00000415389;ENST00000425359;ENST00000335304;ENST00000436361;ENST00000440596	T;T;T;T;T	0.79352	-1.26;-1.13;-1.25;-1.14;-1.2	3.58	2.7	0.31948	Neurotransmitter-gated ion-channel ligand-binding (1);	1.307940	0.06611	U	0.755526	T	0.78052	0.4223	L	0.60455	1.87	0.09310	N	1	B;P;P;P;P	0.36974	0.015;0.488;0.575;0.576;0.575	B;B;B;B;B	0.42593	0.011;0.345;0.392;0.318;0.281	T	0.64533	-0.6385	10	0.45353	T	0.12	.	9.0765	0.36525	0.0:0.8869:0.0:0.1131	.	62;47;62;62;47	E9PGF1;A5X5Y0;A5X5Y0-4;A5X5Y0-3;A5X5Y0-2	.;5HT3E_HUMAN;.;.;.	L	47;47;62;62;62	ENSP00000401444:S47L;ENSP00000401900:S47L;ENSP00000335511:S62L;ENSP00000395833:S62L;ENSP00000406050:S62L	ENSP00000335511:S62L	S	+	2	0	HTR3E	185301039	0.001000	0.12720	0.005000	0.12908	0.009000	0.06853	1.300000	0.33436	0.831000	0.34780	-0.150000	0.13652	TCA	HTR3E	-	superfamily_Neur_chan_lig-bd	ENSG00000186038		0.527	HTR3E-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HTR3E	HGNC	protein_coding	OTTHUMT00000346284.1	75	0.00	0	C	NM_182589		183818345	183818345	+1	no_errors	ENST00000335304	ensembl	human	known	69_37n	missense	80	20.00	20	SNP	0.020	T
HTRA4	203100	genome.wustl.edu	37	8	38840029	38840029	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:38840029C>T	ENST00000302495.4	+	7	1227	c.1127C>T	c.(1126-1128)tCa>tTa	p.S376L		NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	HtrA serine peptidase 4	376					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			AAGGCGTTTTCAAATAAGAAA	0.423																																						dbGAP											0													153.0	152.0	152.0					8																	38840029		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK075205	CCDS6110.1	8p11.23	2008-02-05			ENSG00000169495	ENSG00000169495			26909	protein-coding gene	gene with protein product		610700					Standard	NM_153692		Approved	FLJ90724	uc003xmj.3	P83105	OTTHUMG00000164070	ENST00000302495.4:c.1127C>T	8.37:g.38840029C>T	ENSP00000305919:p.Ser376Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q542Z4|Q6PF13	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_PDZ,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Pept_cys/ser_Trypsin-like,superfamily_PDZ,smart_Prot_inh_Kazal,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C	p.S376L	ENST00000302495.4	37	c.1127	CCDS6110.1	8	.	.	.	.	.	.	.	.	.	.	C	6.669	0.492049	0.12702	.	.	ENSG00000169495	ENST00000302495	T	0.18810	2.19	5.21	1.95	0.26073	.	0.683800	0.13195	N	0.406432	T	0.15349	0.0370	L	0.41824	1.3	0.23113	N	0.998274	B	0.10296	0.003	B	0.04013	0.001	T	0.36986	-0.9725	10	0.09338	T	0.73	-0.9404	10.8498	0.46763	0.0:0.8546:0.0:0.1454	.	376	P83105	HTRA4_HUMAN	L	376	ENSP00000305919:S376L	ENSP00000305919:S376L	S	+	2	0	HTRA4	38959186	0.150000	0.22732	0.108000	0.21378	0.264000	0.26372	1.966000	0.40481	0.139000	0.18822	0.561000	0.74099	TCA	HTRA4	-	NULL	ENSG00000169495		0.423	HTRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTRA4	HGNC	protein_coding	OTTHUMT00000377077.1	171	0.00	0	C	NM_153692		38840029	38840029	+1	no_errors	ENST00000302495	ensembl	human	known	69_37n	missense	37	45.59	31	SNP	0.663	T
HTT	3064	genome.wustl.edu	37	4	3133049	3133049	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:3133049G>A	ENST00000355072.5	+	15	2168	c.2023G>A	c.(2023-2025)Gat>Aat	p.D675N		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	675					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		ACAGTCCACTGATGATGACTC	0.433																																						dbGAP											0													135.0	129.0	131.0					4																	3133049		2040	4193	6233	-	-	-	SO:0001583	missense	0			L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.2023G>A	4.37:g.3133049G>A	ENSP00000347184:p.Asp675Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UQB7	Missense_Mutation	SNP	pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin	p.D675N	ENST00000355072.5	37	c.2023	CCDS43206.1	4	.	.	.	.	.	.	.	.	.	.	G	24.4	4.532460	0.85812	.	.	ENSG00000197386	ENST00000355072	T	0.11277	2.79	5.07	5.07	0.68467	Armadillo-type fold (1);	0.049498	0.85682	D	0.000000	T	0.35008	0.0917	M	0.77103	2.36	0.58432	D	0.999999	D	0.76494	0.999	D	0.81914	0.995	T	0.07102	-1.0790	10	0.72032	D	0.01	.	16.3972	0.83613	0.0:0.0:1.0:0.0	.	675	P42858	HD_HUMAN	N	675	ENSP00000347184:D675N	ENSP00000347184:D675N	D	+	1	0	HTT	3102847	1.000000	0.71417	0.026000	0.17262	0.602000	0.36980	8.393000	0.90182	2.643000	0.89663	0.655000	0.94253	GAT	HTT	-	superfamily_ARM-type_fold	ENSG00000197386		0.433	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTT	HGNC	protein_coding	OTTHUMT00000358234.2	116	0.00	0	G	NM_002111		3133049	3133049	+1	no_errors	ENST00000355072	ensembl	human	known	69_37n	missense	92	23.33	28	SNP	0.938	A
HTT	3064	genome.wustl.edu	37	4	3235057	3235057	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:3235057C>T	ENST00000355072.5	+	61	8578	c.8433C>T	c.(8431-8433)ctC>ctT	p.L2811L	HTT_ENST00000513806.1_Intron	NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	2811					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		ACTATCTCCTCTCCAACCTGA	0.622																																						dbGAP											0													101.0	109.0	107.0					4																	3235057		2053	4210	6263	-	-	-	SO:0001819	synonymous_variant	0			L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.8433C>T	4.37:g.3235057C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UQB7	Silent	SNP	pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin	p.L2811	ENST00000355072.5	37	c.8433	CCDS43206.1	4																																																																																			HTT	-	NULL	ENSG00000197386		0.622	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTT	HGNC	protein_coding	OTTHUMT00000358234.2	12	0.00	0	C	NM_002111		3235057	3235057	+1	no_errors	ENST00000355072	ensembl	human	known	69_37n	silent	8	52.94	9	SNP	0.974	T
HUWE1	10075	genome.wustl.edu	37	X	53610641	53610641	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:53610641C>G	ENST00000342160.3	-	41	5854	c.5397G>C	c.(5395-5397)aaG>aaC	p.K1799N	HUWE1_ENST00000262854.6_Missense_Mutation_p.K1799N			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1799					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGCGGGTACTCTTCAGTTCTG	0.512																																						dbGAP											0													135.0	104.0	115.0					X																	53610641		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.5397G>C	X.37:g.53610641C>G	ENSP00000340648:p.Lys1799Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.K1799N	ENST00000342160.3	37	c.5397	CCDS35301.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.64|12.64	1.997726|1.997726	0.35226|0.35226	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000427052|ENST00000342160;ENST00000262854	.|T;T	.|0.38560	.|1.13;1.13	5.6|5.6	4.73|4.73	0.59995|0.59995	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.33585|0.33585	0.0868|0.0868	L|L	0.34521|0.34521	1.04|1.04	0.48830|0.48830	D|D	0.999717|0.999717	.|B;B	.|0.25169	.|0.073;0.119	.|B;B	.|0.28991	.|0.045;0.097	T|T	0.07731|0.07731	-1.0757|-1.0757	5|10	.|0.31617	.|T	.|0.26	.|.	12.1168|12.1168	0.53870|0.53870	0.0:0.914:0.0:0.086|0.0:0.914:0.0:0.086	.|.	.|1799;1799	.|Q7Z6Z7;Q7Z6Z7-2	.|HUWE1_HUMAN;.	Q|N	833|1799	.|ENSP00000340648:K1799N;ENSP00000262854:K1799N	.|ENSP00000262854:K1799N	E|K	-|-	1|3	0|2	HUWE1|HUWE1	53627366|53627366	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	2.069000|2.069000	0.41481|0.41481	1.111000|1.111000	0.41721|0.41721	0.600000|0.600000	0.82982|0.82982	GAG|AAG	HUWE1	-	NULL	ENSG00000086758		0.512	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	119	0.00	0	C	XM_497119		53610641	53610641	-1	no_errors	ENST00000262854	ensembl	human	known	69_37n	missense	100	24.81	33	SNP	1.000	G
HUWE1	10075	genome.wustl.edu	37	X	53642741	53642741	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:53642741G>A	ENST00000342160.3	-	21	2470	c.2013C>T	c.(2011-2013)ccC>ccT	p.P671P	HUWE1_ENST00000218328.8_Silent_p.P671P|HUWE1_ENST00000262854.6_Silent_p.P671P			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	671					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TTTTAAGGGTGGGCTGATGTC	0.443																																						dbGAP											0													201.0	142.0	162.0					X																	53642741		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.2013C>T	X.37:g.53642741G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Silent	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.P671	ENST00000342160.3	37	c.2013	CCDS35301.1	X																																																																																			HUWE1	-	pfam_E3_Ub_ligase_DUF913,superfamily_ARM-type_fold	ENSG00000086758		0.443	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	153	0.65	1	G	XM_497119		53642741	53642741	-1	no_errors	ENST00000262854	ensembl	human	known	69_37n	silent	186	16.52	37	SNP	0.726	A
HYAL2	8692	genome.wustl.edu	37	3	50357750	50357750	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:50357750C>G	ENST00000447092.1	-	1	2463	c.171G>C	c.(169-171)ctG>ctC	p.L57L	TUSC2_ENST00000462137.1_5'UTR|HYAL2_ENST00000395139.3_Silent_p.L57L|HYAL2_ENST00000442581.1_Silent_p.L57L|HYAL2_ENST00000357750.4_Silent_p.L57L			Q12891	HYAL2_HUMAN	hyaluronoglucosaminidase 2	57					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|defense response to virus (GO:0051607)|fusion of virus membrane with host plasma membrane (GO:0019064)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hematopoietic progenitor cell differentiation (GO:0002244)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|kidney development (GO:0001822)|monocyte activation (GO:0042117)|multicellular organismal aging (GO:0010259)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cell growth (GO:0030308)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|response to antibiotic (GO:0046677)|response to reactive oxygen species (GO:0000302)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|transformation of host cell by virus (GO:0019087)|viral entry into host cell (GO:0046718)	anchored component of external side of plasma membrane (GO:0031362)|anchored component of plasma membrane (GO:0046658)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|lysosome (GO:0005764)|membrane raft (GO:0045121)|microvillus (GO:0005902)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|hyaluronic acid binding (GO:0005540)|hyaluronoglucuronidase activity (GO:0033906)|hyalurononglucosaminidase activity (GO:0004415)|receptor signaling protein tyrosine kinase inhibitor activity (GO:0030294)|receptor tyrosine kinase binding (GO:0030971)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)			breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CAAAGGCATTCAGGTCCAGTG	0.567																																						dbGAP											0													72.0	61.0	64.0					3																	50357750		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ000099	CCDS2818.1	3p21.3	2008-07-18			ENSG00000068001	ENSG00000068001			5321	protein-coding gene	gene with protein product	"""lysosomal hyaluronidase"", ""PH-20 homolog"", ""hyaluronidase 2"""	603551				9712871, 9790770	Standard	NM_003773		Approved	LuCa-2, LUCA2	uc003czv.3	Q12891	OTTHUMG00000156876	ENST00000447092.1:c.171G>C	3.37:g.50357750C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KRZ2|O15177|Q9BW29	Silent	SNP	pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase	p.L57	ENST00000447092.1	37	c.171	CCDS2818.1	3																																																																																			HYAL2	-	pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase	ENSG00000068001		0.567	HYAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HYAL2	HGNC	protein_coding	OTTHUMT00000346391.1	38	0.00	0	C	NM_003773		50357750	50357750	-1	no_errors	ENST00000357750	ensembl	human	known	69_37n	silent	46	25.81	16	SNP	0.001	G
HYDIN	54768	genome.wustl.edu	37	16	70989399	70989399	+	Silent	SNP	C	C	G	rs575152922		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:70989399C>G	ENST00000393567.2	-	40	6345	c.6195G>C	c.(6193-6195)ctG>ctC	p.L2065L		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2065					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGTCGATGCTCAGGCAGGCTG	0.552																																						dbGAP											0													28.0	27.0	28.0					16																	70989399		1893	4101	5994	-	-	-	SO:0001819	synonymous_variant	0			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.6195G>C	16.37:g.70989399C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	superfamily_PapD-like	p.L2064	ENST00000393567.2	37	c.6192	CCDS59269.1	16																																																																																			HYDIN	-	NULL	ENSG00000157423		0.552	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3	43	0.00	0	C			70989399	70989399	-1	no_errors	ENST00000316490	ensembl	human	known	69_37n	silent	68	26.09	24	SNP	0.908	G
HYDIN	54768	genome.wustl.edu	37	16	71127739	71127739	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:71127739C>A	ENST00000393567.2	-	11	1577	c.1427G>T	c.(1426-1428)gGa>gTa	p.G476V	HYDIN_ENST00000288168.10_Missense_Mutation_p.G493V|HYDIN_ENST00000538248.1_Missense_Mutation_p.G503V|RP11-23E19.1_ENST00000563968.1_RNA|HYDIN_ENST00000321489.5_Missense_Mutation_p.G476V|HYDIN_ENST00000448089.2_Missense_Mutation_p.G476V|HYDIN_ENST00000393550.2_Missense_Mutation_p.G476V|HYDIN_ENST00000541601.1_Missense_Mutation_p.G493V|HYDIN_ENST00000448691.1_Missense_Mutation_p.G476V	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	476					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATGTGCAGATCCAGTGAAAAC	0.408																																						dbGAP											0													54.0	53.0	53.0					16																	71127739		2198	4300	6498	-	-	-	SO:0001583	missense	0			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.1427G>T	16.37:g.71127739C>A	ENSP00000377197:p.Gly476Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	superfamily_PapD-like	p.G476V	ENST00000393567.2	37	c.1427	CCDS59269.1	16	.	.	.	.	.	.	.	.	.	.	C	16.55	3.154277	0.57259	.	.	ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089;ENST00000448691;ENST00000321489;ENST00000538248;ENST00000541601;ENST00000288168;ENST00000393550	T;T;T;T;T;T;T;T	0.18960	5.32;3.41;3.38;3.38;3.4;3.39;3.03;2.18	5.11	5.11	0.69529	.	0.000000	0.32671	U	0.005781	T	0.50905	0.1643	M	0.81497	2.545	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.995;1.0;1.0	D;D;D;D;D	0.97110	0.995;0.995;0.973;0.997;1.0	T	0.55805	-0.8083	10	0.62326	D	0.03	.	18.2034	0.89846	0.0:1.0:0.0:0.0	.	503;493;493;476;476	B4DRN4;F5H6V3;F8WD03;Q4G0P3-5;F8WD23	.;.;.;.;.	V	476;476;476;476;476;503;493;493;476	ENSP00000377197:G476V;ENSP00000398544:G476V;ENSP00000394826:G476V;ENSP00000314736:G476V;ENSP00000444970:G503V;ENSP00000437341:G493V;ENSP00000288168:G493V;ENSP00000377181:G476V	ENSP00000288168:G493V	G	-	2	0	HYDIN	69685240	0.821000	0.29204	0.999000	0.59377	0.476000	0.33039	2.148000	0.42235	2.424000	0.82194	0.430000	0.28490	GGA	HYDIN	-	NULL	ENSG00000157423		0.408	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3	61	0.00	0	C			71127739	71127739	-1	no_errors	ENST00000316490	ensembl	human	known	69_37n	missense	83	12.63	12	SNP	1.000	A
HYDIN	54768	genome.wustl.edu	37	16	71171212	71171212	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:71171212C>T	ENST00000393567.2	-	8	1035	c.885G>A	c.(883-885)atG>atA	p.M295I	HYDIN_ENST00000288168.10_Missense_Mutation_p.M312I|HYDIN_ENST00000538248.1_Missense_Mutation_p.M322I|HYDIN_ENST00000321489.5_Missense_Mutation_p.M295I|HYDIN_ENST00000448089.2_Missense_Mutation_p.M295I|HYDIN_ENST00000393550.2_Missense_Mutation_p.M295I|HYDIN_ENST00000541601.1_Missense_Mutation_p.M312I|HYDIN_ENST00000448691.1_Missense_Mutation_p.M295I	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	295					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GCCTTATATTCATGTCTATGG	0.363																																						dbGAP											0													3.0	2.0	3.0					16																	71171212		1517	3185	4702	-	-	-	SO:0001583	missense	0			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.885G>A	16.37:g.71171212C>T	ENSP00000377197:p.Met295Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	superfamily_PapD-like	p.M295I	ENST00000393567.2	37	c.885	CCDS59269.1	16	.	.	.	.	.	.	.	.	.	.	C	6.878	0.531472	0.13127	.	.	ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089;ENST00000448691;ENST00000321489;ENST00000538248;ENST00000541601;ENST00000288168;ENST00000393550	T;T;T;T;T;T;T;T	0.12879	5.73;3.88;3.88;3.88;3.87;3.87;3.52;2.64	4.48	3.43	0.39272	.	0.606596	0.12424	U	0.470137	T	0.07593	0.0191	N	0.12569	0.235	0.26000	N	0.982123	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.06405	0.001;0.001;0.001;0.002;0.001;0.001	T	0.23476	-1.0187	10	0.15066	T	0.55	.	11.1456	0.48428	0.0:0.6346:0.3654:0.0	.	322;312;295;312;295;295	B4DRN4;F5H6V3;Q4G0P3;F8WD03;Q4G0P3-5;F8WD23	.;.;HYDIN_HUMAN;.;.;.	I	295;295;295;295;295;322;312;312;295	ENSP00000377197:M295I;ENSP00000398544:M295I;ENSP00000394826:M295I;ENSP00000314736:M295I;ENSP00000444970:M322I;ENSP00000437341:M312I;ENSP00000288168:M312I;ENSP00000377181:M295I	ENSP00000288168:M312I	M	-	3	0	HYDIN	69728713	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.905000	0.39878	2.459000	0.83118	0.449000	0.29647	ATG	HYDIN	-	NULL	ENSG00000157423		0.363	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3	23	0.00	0	C			71171212	71171212	-1	no_errors	ENST00000316490	ensembl	human	known	69_37n	missense	19	48.65	18	SNP	1.000	T
IAPP	3375	genome.wustl.edu	37	12	21531360	21531360	+	Nonstop_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:21531360G>C	ENST00000240652.3	+	3	406	c.270G>C	c.(268-270)taG>taC	p.*90Y	SLCO1A2_ENST00000307378.6_Intron|IAPP_ENST00000539393.1_Nonstop_Mutation_p.*90Y|IAPP_ENST00000542023.1_3'UTR|SLCO1A2_ENST00000537524.1_Intron|SLCO1A2_ENST00000473830.1_Intron	NM_000415.2	NP_000406.1	P10997	IAPP_HUMAN	islet amyloid polypeptide	0					apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|eating behavior (GO:0042755)|endocrine pancreas development (GO:0031018)|negative regulation of bone resorption (GO:0045779)|negative regulation of cell differentiation (GO:0045596)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)	identical protein binding (GO:0042802)|receptor binding (GO:0005102)			lung(3)	3						TGCCCCTTTAGAGGACAATGT	0.388																																						dbGAP											0													73.0	71.0	72.0					12																	21531360		2203	4300	6503	-	-	-	SO:0001578	stop_lost	0				CCDS8688.1	12p12.1	2013-02-25			ENSG00000121351	ENSG00000121351		"""Endogenous ligands"""	5329	protein-coding gene	gene with protein product	"""amylin"""	147940					Standard	NM_000415		Approved	AMYLIN, DAP, IAP	uc001rev.3	P10997	OTTHUMG00000169128	ENST00000240652.3:c.270G>C	12.37:g.21531360G>C	ENSP00000240652:p.*90Tyrext*4	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0ZD87|Q14598	Missense_Mutation	SNP	pfam_Procalcitonin/adrenomedullin,smart_Calcitonin_peptide-like,prints_Pro-islet_amyloid_polypep	p.86T	ENST00000240652.3	37	c.257	CCDS8688.1	12	.	.	.	.	.	.	.	.	.	.	G	12.60	1.985423	0.35036	.	.	ENSG00000121351	ENST00000539393;ENST00000240652	.	.	.	4.49	2.62	0.31277	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.1227	0.25454	0.2801:0.0:0.7199:0.0	.	.	.	.	Y	90	.	.	X	+	3	2	IAPP	21422627	1.000000	0.71417	0.518000	0.27811	0.315000	0.28087	2.674000	0.46867	0.858000	0.35431	0.655000	0.94253	TAG	IAPP	-	NULL	ENSG00000121351		0.388	IAPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IAPP	HGNC	protein_coding	OTTHUMT00000402356.1	58	0.00	0	G	NM_000415		21531360	21531360	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000535428	ensembl	human	novel	69_37n	missense	29	27.50	11	SNP	0.925	C
ICAM4	3386	genome.wustl.edu	37	19	10397803	10397803	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:10397803C>T	ENST00000380770.3	+	1	161	c.115C>T	c.(115-117)Ctc>Ttc	p.L39F	CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000340992.4_Missense_Mutation_p.L39F|ICAM4_ENST00000393717.2_Missense_Mutation_p.L39F|ICAM5_ENST00000221980.4_5'Flank|CTD-2369P2.5_ENST00000592893.1_RNA	NM_001544.4	NP_001535.1	Q14773	ICAM4_HUMAN	intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)	39					extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)			breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GGGTAGCCCTCTCGCGCCCTC	0.662																																						dbGAP											0													13.0	15.0	14.0					19																	10397803		2196	4285	6481	-	-	-	SO:0001583	missense	0			X93093	CCDS12232.1, CCDS32904.1, CCDS42500.1	19p13.2	2014-07-19	2006-02-23		ENSG00000105371	ENSG00000105371		"""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5347	protein-coding gene	gene with protein product		614088	"""intercellular adhesion molecule 4, Landsteiner-Wiener blood group"", ""Landsteiner-Wiener blood group"", ""intercellular adhesion molecule 4 (LW blood group)"""	LW		8639917, 6431896	Standard	NM_001039132		Approved	CD242	uc002mnr.2	Q14773	OTTHUMG00000180405	ENST00000380770.3:c.115C>T	19.37:g.10397803C>T	ENSP00000370147:p.Leu39Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A0M8X2|Q14771|Q14772|Q16375|Q9BWR0	Missense_Mutation	SNP	pfam_ICAM_N	p.L39F	ENST00000380770.3	37	c.115	CCDS12232.1	19	.	.	.	.	.	.	.	.	.	.	C	10.53	1.374689	0.24857	.	.	ENSG00000105371	ENST00000340992;ENST00000380770;ENST00000393717	T;T;T	0.26957	1.7;3.65;3.64	2.84	1.74	0.24563	.	0.951154	0.08635	N	0.916411	T	0.12561	0.0305	N	0.08118	0	0.09310	N	1	P;P;P	0.46277	0.799;0.875;0.875	B;B;B	0.38616	0.277;0.143;0.198	T	0.13872	-1.0493	10	0.49607	T	0.09	.	7.5333	0.27695	0.0:0.7325:0.2675:0.0	.	39;39;39	Q14773-2;Q14773;Q9BWR0	.;ICAM4_HUMAN;.	F	39	ENSP00000342114:L39F;ENSP00000370147:L39F;ENSP00000377320:L39F	ENSP00000342114:L39F	L	+	1	0	ICAM4	10258803	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	0.054000	0.14205	0.724000	0.32296	0.491000	0.48974	CTC	ICAM4	-	NULL	ENSG00000105371		0.662	ICAM4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ICAM4	HGNC	protein_coding	OTTHUMT00000451214.1	15	0.00	0	C	NM_001544		10397803	10397803	+1	no_errors	ENST00000340992	ensembl	human	known	69_37n	missense	6	45.45	5	SNP	0.001	T
ICAM5	7087	genome.wustl.edu	37	19	10401896	10401896	+	Missense_Mutation	SNP	G	G	C	rs56406350		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:10401896G>C	ENST00000221980.4	+	2	294	c.231G>C	c.(229-231)caG>caC	p.Q77H	ICAM5_ENST00000586004.1_3'UTR|CTD-2369P2.8_ENST00000589379.1_RNA	NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	77	Ig-like C2-type 1.				phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			ACGGGACCCAGAGGGGTTTGC	0.697																																						dbGAP											0													31.0	33.0	32.0					19																	10401896		2203	4298	6501	-	-	-	SO:0001583	missense	0			U72671	CCDS12233.1	19p13.2	2013-01-14				ENSG00000105376		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5348	protein-coding gene	gene with protein product	"""telencephalin"""	601852		TLCN		8995416, 9828136	Standard	NM_003259		Approved	TLN	uc002mnu.4	Q9UMF0		ENST00000221980.4:c.231G>C	19.37:g.10401896G>C	ENSP00000221980:p.Gln77His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9Y6F3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_ICAM_N,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like,prints_ICAM_VCAM_N,prints_ICAM	p.Q77H	ENST00000221980.4	37	c.231	CCDS12233.1	19	.	.	.	.	.	.	.	.	.	.	G	18.64	3.667457	0.67814	.	.	ENSG00000105376	ENST00000221980	T	0.14144	2.53	4.81	4.81	0.61882	Intercellular adhesion molecule, N-terminal (1);Immunoglobulin-like fold (1);	0.543130	0.18003	N	0.154835	T	0.12178	0.0296	L	0.29908	0.895	0.43622	D	0.996005	B	0.33940	0.433	B	0.34931	0.192	T	0.09271	-1.0682	10	0.45353	T	0.12	-21.8497	13.2903	0.60267	0.0:0.0:1.0:0.0	.	77	Q9UMF0	ICAM5_HUMAN	H	77	ENSP00000221980:Q77H	ENSP00000221980:Q77H	Q	+	3	2	ICAM5	10262896	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.649000	0.37281	2.507000	0.84556	0.543000	0.68304	CAG	ICAM5	-	pfam_ICAM_N	ENSG00000105376		0.697	ICAM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ICAM5	HGNC	protein_coding	OTTHUMT00000451217.1	21	0.00	0	G	NM_003259		10401896	10401896	+1	no_errors	ENST00000221980	ensembl	human	known	69_37n	missense	6	60.00	9	SNP	1.000	C
ICK	22858	genome.wustl.edu	37	6	52870088	52870088	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:52870088C>T	ENST00000350082.5	-	14	2104	c.1758G>A	c.(1756-1758)ctG>ctA	p.L586L	ICK_ENST00000356971.3_Silent_p.L586L	NM_014920.3	NP_055735.1	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	586					intracellular signal transduction (GO:0035556)|multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					TCATGGCCTTCAGGGAGGAAT	0.507																																						dbGAP											0													61.0	64.0	63.0					6																	52870088		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB023153	CCDS4949.1	6p12.3-p11.2	2008-02-05			ENSG00000112144	ENSG00000112144			21219	protein-coding gene	gene with protein product		612325				12103360	Standard	NM_014920		Approved	MRK, LCK2, KIAA0936, MGC46090	uc003pbi.2	Q9UPZ9	OTTHUMG00000014870	ENST00000350082.5:c.1758G>A	6.37:g.52870088C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A7MD41|O75985|Q5THL2|Q8IYH8|Q9BX17|Q9NYX3	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.L586	ENST00000350082.5	37	c.1758	CCDS4949.1	6																																																																																			ICK	-	NULL	ENSG00000112144		0.507	ICK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ICK	HGNC	protein_coding	OTTHUMT00000040952.1	66	0.00	0	C	NM_016513		52870088	52870088	-1	no_errors	ENST00000350082	ensembl	human	known	69_37n	silent	28	44.00	22	SNP	1.000	T
ICK	22858	genome.wustl.edu	37	6	52883178	52883178	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:52883178C>T	ENST00000350082.5	-	7	959	c.613G>A	c.(613-615)Gaa>Aaa	p.E205K	ICK_ENST00000356971.3_Missense_Mutation_p.E205K	NM_014920.3	NP_055735.1	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	205	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				intracellular signal transduction (GO:0035556)|multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					GTGTCAATTTCACTGGCTCCA	0.507																																						dbGAP											0													170.0	169.0	169.0					6																	52883178		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023153	CCDS4949.1	6p12.3-p11.2	2008-02-05			ENSG00000112144	ENSG00000112144			21219	protein-coding gene	gene with protein product		612325				12103360	Standard	NM_014920		Approved	MRK, LCK2, KIAA0936, MGC46090	uc003pbi.2	Q9UPZ9	OTTHUMG00000014870	ENST00000350082.5:c.613G>A	6.37:g.52883178C>T	ENSP00000263043:p.Glu205Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MD41|O75985|Q5THL2|Q8IYH8|Q9BX17|Q9NYX3	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.E205K	ENST00000350082.5	37	c.613	CCDS4949.1	6	.	.	.	.	.	.	.	.	.	.	C	35	5.435554	0.96150	.	.	ENSG00000112144	ENST00000350082;ENST00000356971	T;T	0.65364	-0.15;-0.15	5.22	5.22	0.72569	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.72645	0.3486	L	0.59912	1.85	0.80722	D	1	D;D	0.69078	0.995;0.997	D;D	0.70487	0.959;0.969	T	0.74816	-0.3536	10	0.87932	D	0	-15.3026	18.9625	0.92681	0.0:1.0:0.0:0.0	.	205;205	Q9UPZ9-2;Q9UPZ9	.;ICK_HUMAN	K	205	ENSP00000263043:E205K;ENSP00000349458:E205K	ENSP00000263043:E205K	E	-	1	0	ICK	52991137	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	7.641000	0.83368	2.690000	0.91761	0.555000	0.69702	GAA	ICK	-	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	ENSG00000112144		0.507	ICK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ICK	HGNC	protein_coding	OTTHUMT00000040952.1	74	0.00	0	C	NM_016513		52883178	52883178	-1	no_errors	ENST00000350082	ensembl	human	known	69_37n	missense	55	32.93	27	SNP	1.000	T
IDH1	3417	genome.wustl.edu	37	2	209103936	209103936	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:209103936C>G	ENST00000415913.1	-	9	1394	c.1013G>C	c.(1012-1014)aGa>aCa	p.R338T	IDH1_ENST00000446179.1_Missense_Mutation_p.R338T|IDH1_ENST00000345146.2_Missense_Mutation_p.R338T	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	338					2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		GGCTAACCCTCTGGTCCAGGC	0.413			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	dbGAP		Dom	yes		2	2q33.3	3417	"""isocitrate dehydrogenase 1 (NADP+), soluble"""		O	0													59.0	58.0	58.0					2																	209103936		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.1013G>C	2.37:g.209103936C>G	ENSP00000390265:p.Arg338Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP_euk-typ,tigrfam_Isocitrate_DH_NADP_euk-typ	p.R338T	ENST00000415913.1	37	c.1013	CCDS2381.1	2	.	.	.	.	.	.	.	.	.	.	C	26.7	4.763201	0.89932	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913	T;T;T	0.69175	-0.38;-0.38;-0.38	5.53	5.53	0.82687	Isopropylmalate dehydrogenase-like domain (2);	0.045104	0.85682	D	0.000000	D	0.85444	0.5698	H	0.95611	3.695	0.80722	D	1	D	0.60160	0.987	P	0.55965	0.788	D	0.89403	0.3697	10	0.72032	D	0.01	-8.2936	19.8304	0.96632	0.0:1.0:0.0:0.0	.	338	O75874	IDHC_HUMAN	T	338	ENSP00000260985:R338T;ENSP00000410513:R338T;ENSP00000390265:R338T	ENSP00000260985:R338T	R	-	2	0	IDH1	208812181	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.893000	0.63199	2.775000	0.95449	0.585000	0.79938	AGA	IDH1	-	pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP_euk-typ,tigrfam_Isocitrate_DH_NADP_euk-typ	ENSG00000138413		0.413	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IDH1	HGNC	protein_coding	OTTHUMT00000336672.1	95	0.00	0	C			209103936	209103936	-1	no_errors	ENST00000345146	ensembl	human	known	69_37n	missense	81	22.86	24	SNP	1.000	G
IDH1	3417	genome.wustl.edu	37	2	209113264	209113264	+	Missense_Mutation	SNP	C	C	G	rs368642313		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:209113264C>G	ENST00000415913.1	-	4	624	c.243G>C	c.(241-243)aaG>aaC	p.K81N	IDH1_ENST00000446179.1_Missense_Mutation_p.K81N|IDH1_ENST00000345146.2_Missense_Mutation_p.K81N	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	81					2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		CCTCAACCCTCTTCTCATCAG	0.453			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	dbGAP		Dom	yes		2	2q33.3	3417	"""isocitrate dehydrogenase 1 (NADP+), soluble"""		O	0													179.0	147.0	158.0					2																	209113264		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.243G>C	2.37:g.209113264C>G	ENSP00000390265:p.Lys81Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP_euk-typ,tigrfam_Isocitrate_DH_NADP_euk-typ	p.K81N	ENST00000415913.1	37	c.243	CCDS2381.1	2	.	.	.	.	.	.	.	.	.	.	c	13.83	2.353926	0.41700	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09	5.37	3.58	0.41010	Isopropylmalate dehydrogenase-like domain (2);	0.043571	0.85682	D	0.000000	T	0.67711	0.2922	L	0.37897	1.145	0.80722	D	1	B	0.13145	0.007	B	0.10450	0.005	T	0.62613	-0.6817	10	0.59425	D	0.04	-5.1656	10.4773	0.44672	0.0:0.7883:0.0:0.2117	.	81	O75874	IDHC_HUMAN	N	81	ENSP00000260985:K81N;ENSP00000410513:K81N;ENSP00000390265:K81N;ENSP00000391075:K81N	ENSP00000260985:K81N	K	-	3	2	IDH1	208821509	0.691000	0.27709	1.000000	0.80357	0.984000	0.73092	-0.091000	0.11146	0.653000	0.30826	-0.226000	0.12346	AAG	IDH1	-	pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP_euk-typ,tigrfam_Isocitrate_DH_NADP_euk-typ	ENSG00000138413		0.453	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IDH1	HGNC	protein_coding	OTTHUMT00000336672.1	139	0.00	0	C			209113264	209113264	-1	no_errors	ENST00000345146	ensembl	human	known	69_37n	missense	165	14.51	28	SNP	1.000	G
IDI2	91734	genome.wustl.edu	37	10	1065716	1065716	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:1065716C>T	ENST00000277517.1	-	5	489	c.425G>A	c.(424-426)aGa>aAa	p.R142K	IDI2-AS1_ENST00000420381.1_RNA|IDI2-AS1_ENST00000434470.1_RNA|IDI2-AS1_ENST00000428780.2_RNA|IDI2-AS1_ENST00000437374.1_RNA|GTPBP4_ENST00000360803.4_3'UTR|IDI2-AS1_ENST00000536039.1_RNA	NM_033261.2	NP_150286.1	Q9BXS1	IDI2_HUMAN	isopentenyl-diphosphate delta isomerase 2	142	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				cholesterol biosynthetic process (GO:0006695)|dimethylallyl diphosphate biosynthetic process (GO:0050992)|isopentenyl diphosphate metabolic process (GO:0046490)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|isopentenyl-diphosphate delta-isomerase activity (GO:0004452)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.143)	Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192)		TCCCCAAATTCTGTCTGATTT	0.423																																						dbGAP											0													139.0	120.0	127.0					10																	1065716		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF271725	CCDS7055.1	10p15.3	2003-11-19			ENSG00000148377	ENSG00000148377			23487	protein-coding gene	gene with protein product		615389				12477932	Standard	NM_033261		Approved	IPPI2	uc001ifv.1	Q9BXS1	OTTHUMG00000017537	ENST00000277517.1:c.425G>A	10.37:g.1065716C>T	ENSP00000277517:p.Arg142Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,pirsf_IsopentenylPP_isomerase_typ1,tigrfam_IsopentenylPP_isomerase_typ1	p.R142K	ENST00000277517.1	37	c.425	CCDS7055.1	10	.	.	.	.	.	.	.	.	.	.	C	15.35	2.807037	0.50421	.	.	ENSG00000148377	ENST00000277517	.	.	.	3.55	-7.09	0.01553	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.610009	0.17032	U	0.189652	T	0.17280	0.0415	N	0.11201	0.11	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.04781	-1.0927	9	0.66056	D	0.02	0.0529	7.034	0.24983	0.0:0.2991:0.2156:0.4854	.	142	Q9BXS1	IDI2_HUMAN	K	142	.	ENSP00000277517:R142K	R	-	2	0	IDI2	1055716	0.000000	0.05858	0.000000	0.03702	0.589000	0.36550	-0.304000	0.08199	-2.141000	0.00805	0.185000	0.17295	AGA	IDI2	-	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,pirsf_IsopentenylPP_isomerase_typ1,tigrfam_IsopentenylPP_isomerase_typ1	ENSG00000148377		0.423	IDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDI2	HGNC	protein_coding	OTTHUMT00000046411.1	136	0.00	0	C	NM_033261		1065716	1065716	-1	no_errors	ENST00000277517	ensembl	human	known	69_37n	missense	92	25.20	31	SNP	0.000	T
IER5	51278	genome.wustl.edu	37	1	181058944	181058944	+	Silent	SNP	C	C	A	rs371012443		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:181058944C>A	ENST00000367577.4	+	1	1307	c.906C>A	c.(904-906)gcC>gcA	p.A302A	RP11-309G3.3_ENST00000606938.1_lincRNA	NM_016545.4	NP_057629.2	Q5VY09	IER5_HUMAN	immediate early response 5	302										lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	4						CGGAAGCCGCCGAGCCCGGGC	0.647																																						dbGAP											0													26.0	32.0	30.0					1																	181058944		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			BC000128	CCDS1343.1	1q25.3	2008-02-05			ENSG00000162783	ENSG00000162783			5393	protein-coding gene	gene with protein product		607177				10049588, 11102586	Standard	NM_016545		Approved		uc001got.4	Q5VY09	OTTHUMG00000035178	ENST00000367577.4:c.906C>A	1.37:g.181058944C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBV3|Q8WY68|Q9NY49|Q9NZP9	Silent	SNP	pfam_IER	p.A302	ENST00000367577.4	37	c.906	CCDS1343.1	1																																																																																			IER5	-	pfam_IER	ENSG00000162783		0.647	IER5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IER5	HGNC	protein_coding	OTTHUMT00000085142.1	27	0.00	0	C	NM_016545		181058944	181058944	+1	no_errors	ENST00000367577	ensembl	human	known	69_37n	silent	20	23.08	6	SNP	0.912	A
IFIT1	3434	genome.wustl.edu	37	10	91163445	91163445	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:91163445G>C	ENST00000371804.3	+	2	1580	c.1413G>C	c.(1411-1413)gaG>gaC	p.E471D	LIPA_ENST00000371837.1_Intron|IFIT1_ENST00000546318.1_Missense_Mutation_p.E440D	NM_001270927.1|NM_001548.4	NP_001257856.1|NP_001539.3	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1	471					cellular response to exogenous dsRNA (GO:0071360)|cellular response to type I interferon (GO:0071357)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|intracellular transport of viral protein in host cell (GO:0019060)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of helicase activity (GO:0051097)|negative regulation of protein binding (GO:0032091)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						CTGACTTTGAGAACTCTGTGA	0.433																																						dbGAP											0													38.0	40.0	39.0					10																	91163445		2203	4300	6503	-	-	-	SO:0001583	missense	0			M24594	CCDS31243.1, CCDS59220.1	10q23.31	2014-05-22			ENSG00000185745	ENSG00000185745		"""Tetratricopeptide (TTC) repeat domain containing"""	5407	protein-coding gene	gene with protein product		147690		G10P1, IFI56, IFNAI1		1377167, 3360121	Standard	NM_001548		Approved	GARG-16	uc001kgi.4	P09914	OTTHUMG00000018712	ENST00000371804.3:c.1413G>C	10.37:g.91163445G>C	ENSP00000360869:p.Glu471Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KS50|D3DR31|Q5T7J1|Q96QM5	Missense_Mutation	SNP	pfam_TPR_2,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E471D	ENST00000371804.3	37	c.1413	CCDS31243.1	10	.	.	.	.	.	.	.	.	.	.	G	9.746	1.166121	0.21621	.	.	ENSG00000185745	ENST00000371804;ENST00000546318	T;T	0.14144	2.53;2.54	4.7	-2.12	0.07165	.	2.800750	0.04420	U	0.367371	T	0.08358	0.0208	L	0.28556	0.865	0.09310	N	1	B;B	0.15141	0.012;0.012	B;B	0.11329	0.006;0.006	T	0.33394	-0.9870	10	0.19590	T	0.45	.	1.4479	0.02368	0.1925:0.3802:0.1703:0.257	.	471;471	Q5T7J1;P09914	.;IFIT1_HUMAN	D	471;440	ENSP00000360869:E471D;ENSP00000441968:E440D	ENSP00000360869:E471D	E	+	3	2	IFIT1	91153425	0.119000	0.22226	0.000000	0.03702	0.003000	0.03518	0.829000	0.27449	-0.264000	0.09365	-0.859000	0.03014	GAG	IFIT1	-	NULL	ENSG00000185745		0.433	IFIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFIT1	HGNC	protein_coding	OTTHUMT00000049302.1	29	0.00	0	G	NM_001548		91163445	91163445	+1	no_errors	ENST00000371804	ensembl	human	known	69_37n	missense	8	46.67	7	SNP	0.000	C
IFNA16	3449	genome.wustl.edu	37	9	21217191	21217191	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:21217191C>T	ENST00000380216.1	-	1	119	c.114G>A	c.(112-114)ttG>ttA	p.L38L		NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN	interferon, alpha 16	38					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		CCAGGAGTATCAAGGCCCTCC	0.502																																						dbGAP											0													93.0	94.0	94.0					9																	21217191		2203	4297	6500	-	-	-	SO:0001819	synonymous_variant	0				CCDS34996.1	9p22	2010-12-10			ENSG00000147885	ENSG00000147885		"""Interferons"""	5421	protein-coding gene	gene with protein product		147580				1385305	Standard	NM_002173		Approved	IFN-alphaO	uc003zor.1	P05015	OTTHUMG00000019663	ENST00000380216.1:c.114G>A	9.37:g.21217191C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VV12	Silent	SNP	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta	p.L38	ENST00000380216.1	37	c.114	CCDS34996.1	9																																																																																			IFNA16	-	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core	ENSG00000147885		0.502	IFNA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNA16	HGNC	protein_coding	OTTHUMT00000051892.1	83	0.00	0	C	NM_002173		21217191	21217191	-1	no_errors	ENST00000380216	ensembl	human	known	69_37n	silent	49	46.24	43	SNP	0.003	T
IFNA17	3451	genome.wustl.edu	37	9	21227955	21227955	+	Missense_Mutation	SNP	T	T	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:21227955T>C	ENST00000413767.2	-	1	266	c.218A>G	c.(217-219)aAg>aGg	p.K73R		NM_021268.2	NP_067091.1	P01571	IFN17_HUMAN	interferon, alpha 17	73					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			breast(1)|endometrium(2)|lung(4)|ovary(1)|skin(1)	9				Lung(24;2.13e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		GGCTTGAGTCTTCTGGAACTG	0.507																																						dbGAP											0													105.0	107.0	106.0					9																	21227955		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6500.1	9p22	2010-12-10			ENSG00000234829	ENSG00000234829		"""Interferons"""	5422	protein-coding gene	gene with protein product		147583				1385305	Standard	NM_021268		Approved	LEIF2C1, IFN-alphaI	uc003zos.1	P01571	OTTHUMG00000019667	ENST00000413767.2:c.218A>G	9.37:g.21227955T>C	ENSP00000411940:p.Lys73Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14639|Q4KMT4|Q5VZ53|Q7M4Q4	Missense_Mutation	SNP	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta	p.K73R	ENST00000413767.2	37	c.218	CCDS6500.1	9	.	.	.	.	.	.	.	.	.	.	t	16.37	3.105440	0.56291	.	.	ENSG00000234829	ENST00000413767	T	0.05382	3.45	2.87	2.87	0.33458	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.415342	0.26991	N	0.021461	T	0.09642	0.0237	M	0.69248	2.105	0.20926	N	0.99982	B	0.17852	0.024	B	0.28709	0.093	T	0.15838	-1.0423	10	0.87932	D	0	.	8.8162	0.34998	0.0:0.0:0.0:1.0	.	73	P01571	IFN17_HUMAN	R	73	ENSP00000411940:K73R	ENSP00000411940:K73R	K	-	2	0	IFNA17	21217955	0.047000	0.20315	0.809000	0.32408	0.745000	0.42441	1.527000	0.35975	1.308000	0.44962	0.347000	0.21830	AAG	IFNA17	-	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta	ENSG00000234829		0.507	IFNA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNA17	HGNC	protein_coding	OTTHUMT00000051896.1	198	0.50	1	T	NM_021268		21227955	21227955	-1	no_errors	ENST00000413767	ensembl	human	known	69_37n	missense	115	39.15	74	SNP	0.933	C
IFNA17	3451	genome.wustl.edu	37	9	21228097	21228097	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:21228097G>C	ENST00000413767.2	-	1	124	c.76C>G	c.(76-78)Ctg>Gtg	p.L26V		NM_021268.2	NP_067091.1	P01571	IFN17_HUMAN	interferon, alpha 17	26					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			breast(1)|endometrium(2)|lung(4)|ovary(1)|skin(1)	9				Lung(24;2.13e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		GTCTGAGGCAGATCACAGCCT	0.507																																						dbGAP											0													69.0	70.0	70.0					9																	21228097		2202	4283	6485	-	-	-	SO:0001583	missense	0				CCDS6500.1	9p22	2010-12-10			ENSG00000234829	ENSG00000234829		"""Interferons"""	5422	protein-coding gene	gene with protein product		147583				1385305	Standard	NM_021268		Approved	LEIF2C1, IFN-alphaI	uc003zos.1	P01571	OTTHUMG00000019667	ENST00000413767.2:c.76C>G	9.37:g.21228097G>C	ENSP00000411940:p.Leu26Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14639|Q4KMT4|Q5VZ53|Q7M4Q4	Missense_Mutation	SNP	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta	p.L26V	ENST00000413767.2	37	c.76	CCDS6500.1	9	.	.	.	.	.	.	.	.	.	.	g	17.86	3.493635	0.64186	.	.	ENSG00000234829	ENST00000413767	T	0.13196	2.61	2.87	0.949	0.19566	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.389481	0.23803	N	0.044414	T	0.39306	0.1073	M	0.90145	3.09	0.09310	N	1	P	0.39216	0.664	D	0.64776	0.929	T	0.12192	-1.0557	10	0.87932	D	0	.	6.4712	0.22009	0.2714:0.0:0.7286:0.0	.	26	P01571	IFN17_HUMAN	V	26	ENSP00000411940:L26V	ENSP00000411940:L26V	L	-	1	2	IFNA17	21218097	0.003000	0.15002	0.152000	0.22495	0.940000	0.58332	0.158000	0.16422	0.531000	0.28639	0.423000	0.28283	CTG	IFNA17	-	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core	ENSG00000234829		0.507	IFNA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNA17	HGNC	protein_coding	OTTHUMT00000051896.1	128	0.00	0	G	NM_021268		21228097	21228097	-1	no_errors	ENST00000413767	ensembl	human	known	69_37n	missense	85	39.72	56	SNP	0.029	C
IFT140	9742	genome.wustl.edu	37	16	1639617	1639617	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:1639617C>T	ENST00000426508.2	-	7	1162	c.799G>A	c.(799-801)Gaa>Aaa	p.E267K	IFT140_ENST00000439987.2_5'UTR|LA16c-395F10.2_ENST00000563162.1_RNA	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	267			E -> G (in SRTD9; disease phenotype consistent with Mainzer-Saldino syndrome). {ECO:0000269|PubMed:23418020}.		cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				TTCATCACTTCTTCTGCTTTG	0.582																																						dbGAP											0													127.0	93.0	104.0					16																	1639617		2199	4300	6499	-	-	-	SO:0001583	missense	0			AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.799G>A	16.37:g.1639617C>T	ENSP00000406012:p.Glu267Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E267K	ENST00000426508.2	37	c.799	CCDS10439.1	16	.	.	.	.	.	.	.	.	.	.	C	16.45	3.127603	0.56721	.	.	ENSG00000187535	ENST00000397417;ENST00000426508;ENST00000439987	T	0.28895	1.59	4.87	4.87	0.63330	WD40 repeat-like-containing domain (1);	0.052182	0.85682	D	0.000000	T	0.37785	0.1016	M	0.84326	2.69	0.80722	D	1	P	0.44478	0.836	B	0.37267	0.245	T	0.47947	-0.9077	10	0.37606	T	0.19	.	16.9816	0.86329	0.0:1.0:0.0:0.0	.	267	Q96RY7	IF140_HUMAN	K	267	ENSP00000406012:E267K	ENSP00000380562:E267K	E	-	1	0	IFT140	1579618	1.000000	0.71417	0.826000	0.32828	0.346000	0.29079	7.183000	0.77697	2.247000	0.74100	0.313000	0.20887	GAA	IFT140	-	superfamily_WD40_repeat_dom	ENSG00000187535		0.582	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT140	HGNC	protein_coding	OTTHUMT00000250438.2	28	0.00	0	C	NM_014714		1639617	1639617	-1	no_errors	ENST00000426508	ensembl	human	known	69_37n	missense	67	14.10	11	SNP	1.000	T
IFT172	26160	genome.wustl.edu	37	2	27672601	27672601	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:27672601C>G	ENST00000260570.3	-	37	4220	c.4117G>C	c.(4117-4119)Gag>Cag	p.E1373Q		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	1373					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)					TTGTTCCACTCCTCACCCTCG	0.473																																						dbGAP											0													175.0	158.0	164.0					2																	27672601		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.4117G>C	2.37:g.27672601C>G	ENSP00000260570:p.Glu1373Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat	p.E1373Q	ENST00000260570.3	37	c.4117	CCDS1755.1	2	.	.	.	.	.	.	.	.	.	.	C	22.8	4.343283	0.82022	.	.	ENSG00000138002	ENST00000260570	T	0.77098	-1.07	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.70771	0.3262	L	0.45051	1.395	0.80722	D	1	P	0.36683	0.565	B	0.33121	0.158	T	0.68708	-0.5337	10	0.25106	T	0.35	-22.6754	17.9993	0.89194	0.0:1.0:0.0:0.0	.	1373	Q9UG01	IF172_HUMAN	Q	1373	ENSP00000260570:E1373Q	ENSP00000260570:E1373Q	E	-	1	0	IFT172	27526105	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.084000	0.76866	2.599000	0.87857	0.491000	0.48974	GAG	IFT172	-	NULL	ENSG00000138002		0.473	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT172	HGNC	protein_coding	OTTHUMT00000250213.2	95	0.00	0	C	NM_015662		27672601	27672601	-1	no_errors	ENST00000260570	ensembl	human	known	69_37n	missense	75	21.05	20	SNP	1.000	G
IFT172	26160	genome.wustl.edu	37	2	27706176	27706176	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:27706176C>A	ENST00000260570.3	-	7	653	c.550G>T	c.(550-552)Gaa>Taa	p.E184*	IFT172_ENST00000416524.2_Nonsense_Mutation_p.E163*|IFT172_ENST00000359466.6_Nonsense_Mutation_p.E184*	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	184					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)					CCAGAGCCTTCATCATCAAAG	0.443																																						dbGAP											0													126.0	123.0	124.0					2																	27706176		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			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.550G>T	2.37:g.27706176C>A	ENSP00000260570:p.Glu184*	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat	p.E184*	ENST00000260570.3	37	c.550	CCDS1755.1	2	.	.	.	.	.	.	.	.	.	.	C	38	6.641507	0.97726	.	.	ENSG00000138002	ENST00000260570;ENST00000359466;ENST00000416524	.	.	.	5.56	5.56	0.83823	.	0.046637	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-16.7471	18.0834	0.89449	0.0:1.0:0.0:0.0	.	.	.	.	X	184;184;163	.	ENSP00000260570:E184X	E	-	1	0	IFT172	27559680	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.323000	0.59221	2.609000	0.88269	0.467000	0.42956	GAA	IFT172	-	superfamily_WD40_repeat_dom	ENSG00000138002		0.443	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT172	HGNC	protein_coding	OTTHUMT00000250213.2	90	0.00	0	C	NM_015662		27706176	27706176	-1	no_errors	ENST00000260570	ensembl	human	known	69_37n	nonsense	84	22.22	24	SNP	1.000	A
IFT81	28981	genome.wustl.edu	37	12	110570413	110570413	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:110570413C>G	ENST00000242591.5	+	5	997	c.491C>G	c.(490-492)tCt>tGt	p.S164C	IFT81_ENST00000552912.1_Missense_Mutation_p.S164C|IFT81_ENST00000361948.4_Missense_Mutation_p.S164C	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81	164					cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|spermatogenesis (GO:0007283)	centrosome (GO:0005813)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)	tubulin binding (GO:0015631)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						CTCAAGATATCTGGATTTTCT	0.264																																						dbGAP											0													37.0	43.0	41.0					12																	110570413		2196	4288	6484	-	-	-	SO:0001583	missense	0			AF139540	CCDS9142.1, CCDS41831.1	12q24.13	2014-07-03	2014-07-03	2005-11-02		ENSG00000122970		"""Intraflagellar transport homologs"""	14313	protein-coding gene	gene with protein product		605489	"""carnitine deficiency-associated, expressed in ventricle 1"", ""intraflagellar transport 81 homolog (Chlamydomonas)"""	CDV1		11130971	Standard	NM_014055		Approved	CDV-1R, MGC4027	uc001tqi.3	Q8WYA0	OTTHUMG00000169326	ENST00000242591.5:c.491C>G	12.37:g.110570413C>G	ENSP00000242591:p.Ser164Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2YDY1|Q8NB51|Q9BSV2|Q9UNY8	Missense_Mutation	SNP	NULL	p.S164C	ENST00000242591.5	37	c.491	CCDS41831.1	12	.	.	.	.	.	.	.	.	.	.	C	22.1	4.245111	0.79912	.	.	ENSG00000122970	ENST00000361948;ENST00000552912;ENST00000242591	T;T;T	0.79454	-1.27;-1.27;-1.27	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.89619	0.6767	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.986;0.997	D	0.90211	0.4264	10	0.72032	D	0.01	-9.9406	19.8765	0.96875	0.0:1.0:0.0:0.0	.	164;164	Q8WYA0;Q8WYA0-3	IFT81_HUMAN;.	C	164	ENSP00000355372:S164C;ENSP00000449718:S164C;ENSP00000242591:S164C	ENSP00000242591:S164C	S	+	2	0	IFT81	109054796	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	7.437000	0.80417	2.695000	0.91970	0.650000	0.86243	TCT	IFT81	-	NULL	ENSG00000122970		0.264	IFT81-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IFT81	HGNC	protein_coding	OTTHUMT00000403529.1	41	0.00	0	C	NM_014055		110570413	110570413	+1	no_errors	ENST00000242591	ensembl	human	known	69_37n	missense	36	25.00	12	SNP	1.000	G
IFT81	28981	genome.wustl.edu	37	12	110643466	110643466	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:110643466G>C	ENST00000242591.5	+	17	2289	c.1783G>C	c.(1783-1785)Gaa>Caa	p.E595Q	IFT81_ENST00000552912.1_Missense_Mutation_p.E595Q	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81	595					cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|spermatogenesis (GO:0007283)	centrosome (GO:0005813)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)	tubulin binding (GO:0015631)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						TGATCAACAAGAAAAAAGAAA	0.294																																						dbGAP											0													156.0	150.0	152.0					12																	110643466		1807	4071	5878	-	-	-	SO:0001583	missense	0			AF139540	CCDS9142.1, CCDS41831.1	12q24.13	2014-07-03	2014-07-03	2005-11-02		ENSG00000122970		"""Intraflagellar transport homologs"""	14313	protein-coding gene	gene with protein product		605489	"""carnitine deficiency-associated, expressed in ventricle 1"", ""intraflagellar transport 81 homolog (Chlamydomonas)"""	CDV1		11130971	Standard	NM_014055		Approved	CDV-1R, MGC4027	uc001tqi.3	Q8WYA0	OTTHUMG00000169326	ENST00000242591.5:c.1783G>C	12.37:g.110643466G>C	ENSP00000242591:p.Glu595Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2YDY1|Q8NB51|Q9BSV2|Q9UNY8	Missense_Mutation	SNP	NULL	p.E595Q	ENST00000242591.5	37	c.1783	CCDS41831.1	12	.	.	.	.	.	.	.	.	.	.	G	22.9	4.343820	0.82022	.	.	ENSG00000122970	ENST00000552912;ENST00000242591;ENST00000550748	.	.	.	5.65	5.65	0.86999	.	0.216673	0.49916	D	0.000136	T	0.57169	0.2035	L	0.54323	1.7	0.37399	D	0.912755	P	0.39480	0.675	B	0.39840	0.311	T	0.59107	-0.7516	9	0.26408	T	0.33	-20.7117	19.3086	0.94175	0.0:0.0:1.0:0.0	.	595	Q8WYA0	IFT81_HUMAN	Q	595;595;26	.	ENSP00000242591:E595Q	E	+	1	0	IFT81	109127849	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.570000	0.73996	2.660000	0.90430	0.563000	0.77884	GAA	IFT81	-	NULL	ENSG00000122970		0.294	IFT81-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IFT81	HGNC	protein_coding	OTTHUMT00000403529.1	156	0.00	0	G	NM_014055		110643466	110643466	+1	no_errors	ENST00000242591	ensembl	human	known	69_37n	missense	117	11.36	15	SNP	1.000	C
IFT88	8100	genome.wustl.edu	37	13	21176024	21176024	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr13:21176024G>C	ENST00000319980.6	+	14	1347	c.1020G>C	c.(1018-1020)ttG>ttC	p.L340F	IFT88_ENST00000537103.1_Missense_Mutation_p.L312F|IFT88_ENST00000351808.5_Missense_Mutation_p.L331F|IFT88_ENST00000382778.4_Missense_Mutation_p.L340F	NM_175605.3	NP_783195.2	Q13099	IFT88_HUMAN	intraflagellar transport 88	340					anterior/posterior pattern specification (GO:0009952)|cardiac muscle cell differentiation (GO:0055007)|cardiac septum morphogenesis (GO:0060411)|cilium morphogenesis (GO:0060271)|cochlea development (GO:0090102)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|embryonic digit morphogenesis (GO:0042733)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|epithelial cell morphogenesis (GO:0003382)|eye development (GO:0001654)|forebrain morphogenesis (GO:0048853)|heart formation (GO:0060914)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|liver development (GO:0001889)|lung vasculature development (GO:0060426)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|protein localization (GO:0008104)|regulation of autophagic vacuole assembly (GO:2000785)|regulation of cilium assembly (GO:1902017)|regulation of fat cell differentiation (GO:0045598)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of protein processing (GO:0070613)|regulation of smoothened signaling pathway (GO:0008589)|response to fluid shear stress (GO:0034405)|smoothened signaling pathway (GO:0007224)|sperm axoneme assembly (GO:0007288)|spermatid nucleus elongation (GO:0007290)|spinal cord dorsal/ventral patterning (GO:0021513)|telencephalon development (GO:0021537)	acrosomal membrane (GO:0002080)|apical part of cell (GO:0045177)|axonemal basal plate (GO:0097541)|centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|kinocilium (GO:0060091)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		TCCAAAAATTGATTACTGTTC	0.353																																						dbGAP											0													62.0	63.0	63.0					13																	21176024		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK058172	CCDS31944.1, CCDS31945.1	13q12.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000032742	ENSG00000032742		"""Intraflagellar transport homologs"", ""Tetratricopeptide (TTC) repeat domain containing"""	20606	protein-coding gene	gene with protein product	"""polaris homolog"""	600595	"""tetratricopeptide repeat domain 10"", ""intraflagellar transport 88 homolog (Chlamydomonas)"""	TTC10		7633404	Standard	XM_005266546		Approved	hTg737, Tg737, D13S1056E, MGC26259	uc001uni.3	Q13099	OTTHUMG00000016517	ENST00000319980.6:c.1020G>C	13.37:g.21176024G>C	ENSP00000323580:p.Leu340Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A491|B4DUS2|Q5SZJ6|Q8N719	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat,smart_Sel1-like,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L340F	ENST00000319980.6	37	c.1020	CCDS31944.1	13	.	.	.	.	.	.	.	.	.	.	G	11.50	1.655975	0.29425	.	.	ENSG00000032742	ENST00000382778;ENST00000389374;ENST00000351808;ENST00000319980;ENST00000537103	T;T;T;T	0.76578	-1.03;1.09;1.08;1.11	5.3	2.54	0.30619	Tetratricopeptide-like helical (1);	0.000000	0.64402	D	0.000001	D	0.86615	0.5975	M	0.86864	2.845	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.80764	0.989;0.984;0.994	D	0.85027	0.0915	10	0.72032	D	0.01	-9.023	6.7114	0.23280	0.2076:0.2353:0.5572:0.0	.	312;138;340	F5H6C2;Q6MZX0;Q13099	.;.;IFT88_HUMAN	F	340;203;331;340;312	ENSP00000372228:L340F;ENSP00000261632:L331F;ENSP00000323580:L340F;ENSP00000437719:L312F	ENSP00000323580:L340F	L	+	3	2	IFT88	20074024	1.000000	0.71417	0.981000	0.43875	0.085000	0.17905	1.934000	0.40163	0.597000	0.29811	0.467000	0.42956	TTG	IFT88	-	pfam_OMP_IML2_mit/TPR_39	ENSG00000032742		0.353	IFT88-002	KNOWN	basic|CCDS	protein_coding	IFT88	HGNC	protein_coding	OTTHUMT00000044075.3	79	0.00	0	G	NM_006531		21176024	21176024	+1	no_errors	ENST00000319980	ensembl	human	known	69_37n	missense	40	38.46	25	SNP	0.998	C
IGF1R	3480	genome.wustl.edu	37	15	99192865	99192865	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:99192865C>G	ENST00000268035.6	+	1	666	c.55C>G	c.(55-57)Ctc>Gtc	p.L19V	RP11-35O15.1_ENST00000560221.1_RNA|IGF1R_ENST00000558762.1_Missense_Mutation_p.L19V	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	19					axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	GCTCCTGTTTCTCTCCGCCGC	0.587																																						dbGAP											0													32.0	38.0	36.0					15																	99192865		2197	4297	6494	-	-	-	SO:0001583	missense	0			M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.55C>G	15.37:g.99192865C>G	ENSP00000268035:p.Leu19Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom	p.L19V	ENST00000268035.6	37	c.55	CCDS10378.1	15	.	.	.	.	.	.	.	.	.	.	C	7.619	0.676512	0.14841	.	.	ENSG00000140443	ENST00000268035	T	0.76578	-1.03	3.76	0.469	0.16741	.	0.766837	0.10251	N	0.697187	T	0.57007	0.2024	N	0.16656	0.425	0.21719	N	0.999573	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.34700	-0.9818	10	0.20519	T	0.43	.	4.7631	0.13118	0.0:0.4031:0.3681:0.2288	.	19;19	C9J5X1;P08069	.;IGF1R_HUMAN	V	19	ENSP00000268035:L19V	ENSP00000268035:L19V	L	+	1	0	IGF1R	97010388	0.070000	0.21116	0.980000	0.43619	0.770000	0.43624	-0.756000	0.04777	-0.261000	0.09405	-0.379000	0.06801	CTC	IGF1R	-	pirsf_Tyr_kinase_insulin-like_rcpt	ENSG00000140443		0.587	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	IGF1R	HGNC	protein_coding	OTTHUMT00000313537.2	27	0.00	0	C	NM_000875		99192865	99192865	+1	no_errors	ENST00000268035	ensembl	human	known	69_37n	missense	16	27.27	6	SNP	0.985	G
IGF1R	3480	genome.wustl.edu	37	15	99465606	99465606	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:99465606G>C	ENST00000268035.6	+	11	3042	c.2431G>C	c.(2431-2433)Gag>Cag	p.E811Q	IGF1R_ENST00000558762.1_Missense_Mutation_p.E811Q	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	811	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	CCACGAGGCTGAGAAGCTGGG	0.527																																						dbGAP											0													104.0	102.0	102.0					15																	99465606		2197	4297	6494	-	-	-	SO:0001583	missense	0			M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.2431G>C	15.37:g.99465606G>C	ENSP00000268035:p.Glu811Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom	p.E811Q	ENST00000268035.6	37	c.2431	CCDS10378.1	15	.	.	.	.	.	.	.	.	.	.	G	11.77	1.737464	0.30774	.	.	ENSG00000140443	ENST00000268035	T	0.55930	0.49	5.5	5.5	0.81552	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.198538	0.33712	N	0.004624	T	0.31918	0.0812	N	0.03324	-0.35	0.44995	D	0.998013	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.002	T	0.15780	-1.0425	10	0.16420	T	0.52	.	19.4017	0.94632	0.0:0.0:1.0:0.0	.	811;811	C9J5X1;P08069	.;IGF1R_HUMAN	Q	811	ENSP00000268035:E811Q	ENSP00000268035:E811Q	E	+	1	0	IGF1R	97283129	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.647000	0.61418	2.567000	0.86603	0.655000	0.94253	GAG	IGF1R	-	pirsf_Tyr_kinase_insulin-like_rcpt,smart_Fibronectin_type3	ENSG00000140443		0.527	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	IGF1R	HGNC	protein_coding	OTTHUMT00000313537.2	49	0.00	0	G	NM_000875		99465606	99465606	+1	no_errors	ENST00000268035	ensembl	human	known	69_37n	missense	63	25.88	22	SNP	0.995	C
IGF2BP2	10644	genome.wustl.edu	37	3	185363397	185363397	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:185363397C>T	ENST00000382199.2	-	16	1817	c.1722G>A	c.(1720-1722)aaG>aaA	p.K574K	IGF2BP2_ENST00000421047.2_Silent_p.K517K|IGF2BP2_ENST00000457616.2_Silent_p.K580K|IGF2BP2_ENST00000346192.3_Silent_p.K531K	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	574	KH 4. {ECO:0000255|PROSITE- ProRule:PRU00117}.				anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			TTTCCCTGATCTTGCGCTGTG	0.572																																						dbGAP											0													82.0	66.0	71.0					3																	185363397		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC021290	CCDS3273.2, CCDS33903.1	3q27.2	2013-02-12			ENSG00000073792	ENSG00000073792		"""RNA binding motif (RRM) containing"""	28867	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 2"""	608289				10190901, 9891060	Standard	NM_001007225		Approved	IMP-2	uc003fpo.3	Q9Y6M1	OTTHUMG00000074025	ENST00000382199.2:c.1722G>A	3.37:g.185363397C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A0A4Z0|B3FTN2|B3FTN3|B3FTN4	Silent	SNP	pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom	p.K574	ENST00000382199.2	37	c.1722	CCDS3273.2	3																																																																																			IGF2BP2	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	ENSG00000073792		0.572	IGF2BP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGF2BP2	HGNC	protein_coding	OTTHUMT00000157087.2	83	0.00	0	C	NM_006548		185363397	185363397	-1	no_errors	ENST00000382199	ensembl	human	known	69_37n	silent	81	24.30	26	SNP	1.000	T
IGFL4	444882	genome.wustl.edu	37	19	46543498	46543498	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:46543498G>C	ENST00000377697.1	-	3	300	c.247C>G	c.(247-249)Cag>Gag	p.Q83E	IGFL4_ENST00000601672.1_5'UTR|IGFL4_ENST00000595006.1_5'Flank	NM_001002923.1	NP_001002923.1	Q6B9Z1	IGFL4_HUMAN	IGF-like family member 4	83						extracellular space (GO:0005615)				cervix(1)|kidney(1)|lung(1)	3		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		GTCTGGTTCTGAGAGCCCAAA	0.572																																						dbGAP											0													66.0	67.0	67.0					19																	46543498		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY672114	CCDS33057.1	19q13.32	2006-07-14							32931	protein-coding gene	gene with protein product		610547				14702039	Standard	NM_001002923		Approved		uc002pdy.1	Q6B9Z1		ENST00000377697.1:c.247C>G	19.37:g.46543498G>C	ENSP00000366926:p.Gln83Glu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.Q83E	ENST00000377697.1	37	c.247	CCDS33057.1	19	.	.	.	.	.	.	.	.	.	.	g	9.728	1.161429	0.21538	.	.	ENSG00000204869	ENST00000377697	T	0.21734	1.99	2.39	2.39	0.29439	.	0.594090	0.12818	U	0.436681	T	0.21674	0.0522	N	0.14661	0.345	0.09310	N	1	D	0.60575	0.988	D	0.75484	0.986	T	0.09530	-1.0670	10	0.07482	T	0.82	.	8.5414	0.33395	0.0:0.0:1.0:0.0	.	83	Q6B9Z1	IGFL4_HUMAN	E	83	ENSP00000366926:Q83E	ENSP00000366926:Q83E	Q	-	1	0	IGFL4	51235338	0.008000	0.16893	0.076000	0.20297	0.024000	0.10985	1.706000	0.37878	1.716000	0.51395	0.388000	0.25769	CAG	IGFL4	-	NULL	ENSG00000204869		0.572	IGFL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IGFL4	HGNC	protein_coding	OTTHUMT00000461698.1	51	0.00	0	G	NM_001002923		46543498	46543498	-1	no_errors	ENST00000377697	ensembl	human	known	69_37n	missense	46	19.30	11	SNP	0.077	C
IGHE	3497	genome.wustl.edu	37	14	106067408	106067408	+	lincRNA	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:106067408C>T	ENST00000390540.2	-	0	1154				IGHE_ENST00000577108.1_RNA|AL928742.12_ENST00000412518.1_lincRNA|IGHE_ENST00000576077.1_RNA																							TGCCCGTCCTCCAGCCAGGTG	0.642																																						dbGAP											0													29.0	30.0	30.0					14																	106067408		2026	4167	6193	-	-	-			0																															14.37:g.106067408C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like	p.E151K	ENST00000390540.2	37	c.451		14																																																																																			IGHE	-	pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like	ENSG00000211891		0.642	RP11-731F5.1-001	KNOWN	basic	lincRNA	IGHE	HGNC	lincRNA	OTTHUMT00000380286.1	26	0.00	0	C			106067408	106067408	-1	no_start_codon	ENST00000390541	ensembl	human	known	69_37n	missense	23	23.33	7	SNP	0.202	T
IGHV3-43	28426	genome.wustl.edu	37	14	106926397	106926397	+	RNA	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:106926397C>G	ENST00000434710.1	-	0	224									immunoglobulin heavy variable 3-43																		GTATAATCATCAAAGGTGAAT	0.557																																						dbGAP											0													173.0	115.0	134.0					14																	106926397		1935	4122	6057	-	-	-			0			M99672		14q32.33	2012-02-08			ENSG00000232216	ENSG00000232216		"""Immunoglobulins / IGH locus"""	5604	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152094		14.37:g.106926397C>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	p.D49H	ENST00000434710.1	37	c.145		14																																																																																			IGHV3-43	-	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000232216		0.557	IGHV3-43-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGHV3-43	HGNC	IG_V_gene	OTTHUMT00000325191.1	221	0.00	0	C	NG_001019		106926397	106926397	-1	no_stop_codon	ENST00000434710	ensembl	human	known	69_37n	missense	137	18.93	32	SNP	0.833	G
IGHV3-49	28423	genome.wustl.edu	37	14	107012977	107012977	+	RNA	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:107012977G>A	ENST00000390625.2	-	0	397									immunoglobulin heavy variable 3-49																		CGGTTTTCAGGCTGTTCATTT	0.507																																						dbGAP											0													149.0	145.0	146.0					14																	107012977		1967	4149	6116	-	-	-			0			M99676		14q32.33	2012-02-08			ENSG00000211965	ENSG00000211965		"""Immunoglobulins / IGH locus"""	5607	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151967		14.37:g.107012977G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	p.S106	ENST00000390625.2	37	c.318		14																																																																																			IGHV3-49	-	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000211965		0.507	IGHV3-49-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGHV3-49	HGNC	IG_V_gene	OTTHUMT00000324613.1	122	0.00	0	G	NG_001019		107012977	107012977	-1	no_stop_codon	ENST00000390625	ensembl	human	known	69_37n	silent	57	55.38	72	SNP	0.006	A
IGHV3-53	28420	genome.wustl.edu	37	14	107048901	107048901	+	RNA	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:107048901G>C	ENST00000390627.2	-	0	339									immunoglobulin heavy variable 3-53																		GGCTGCAcaggagagtctcag	0.572																																						dbGAP											0													31.0	34.0	33.0					14																	107048901		1855	4062	5917	-	-	-			0			M99679		14q32.33	2012-02-08			ENSG00000211967	ENSG00000211967		"""Immunoglobulins / IGH locus"""	5610	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151966		14.37:g.107048901G>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	p.S40C	ENST00000390627.2	37	c.119		14																																																																																			IGHV3-53	-	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000211967		0.572	IGHV3-53-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGHV3-53	HGNC	IG_V_gene	OTTHUMT00000324612.1	78	0.00	0	G	NG_001019		107048901	107048901	-1	no_stop_codon	ENST00000390627	ensembl	human	known	69_37n	missense	42	52.27	46	SNP	0.996	C
IGKC	3514	genome.wustl.edu	37	2	89156874	89156874	+	RNA	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:89156874C>G	ENST00000390237.2	-	0	322				AC096579.7_ENST00000430694.1_RNA|AC096579.13_ENST00000452230.1_RNA			P01834	IGKC_HUMAN	immunoglobulin kappa constant						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										ACTTCTCCCTCTAACACTCTC	0.577																																						dbGAP											0													65.0	63.0	64.0					2																	89156874		2014	4150	6164	-	-	-			0			J00241		2p11.2	2013-01-14			ENSG00000211592	ENSG00000211592		"""Immunoglobulins / IGK locus"""	5716	other	immunoglobulin gene		147200				10354514	Standard	NG_000834		Approved	HCAK1		P01834	OTTHUMG00000151684		2.37:g.89156874C>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like	p.108T	ENST00000390237.2	37	c.323		2																																																																																			IGKC	-	NULL	ENSG00000211592		0.577	IGKC-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IGKC	HGNC	IG_C_gene	OTTHUMT00000323482.1	67	0.00	0	C	NG_000834		89156874	89156874	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000390237	ensembl	human	known	69_37n	missense	77	18.95	18	SNP	0.387	G
IGLV4-60	28785	genome.wustl.edu	37	22	22516845	22516845	+	RNA	SNP	C	C	G	rs540446012		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:22516845C>G	ENST00000390284.2	+	0	133									immunoglobulin lambda variable 4-60																		CACCTGCACTCTGAGCAGTGG	0.552																																						dbGAP											0													91.0	93.0	92.0					22																	22516845		2132	4251	6383	-	-	-			0			Z73667		22q11.2	2012-02-08			ENSG00000211639	ENSG00000211639		"""Immunoglobulins / IGL locus"""	5920	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000150851		22.37:g.22516845C>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.L45V	ENST00000390284.2	37	c.133		22																																																																																			IGLV4-60	-	pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000211639		0.552	IGLV4-60-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGLV4-60	HGNC	IG_V_gene	OTTHUMT00000320328.1	129	0.00	0	C	NG_000002		22516845	22516845	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000390284	ensembl	human	known	69_37n	missense	181	18.83	42	SNP	0.947	G
IGLV5-48	28780	genome.wustl.edu	37	22	22707571	22707571	+	RNA	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:22707571G>C	ENST00000390293.1	+	0	159									immunoglobulin lambda variable 5-48 (non-functional)																		GTAGCTACAGGATATTCTGGT	0.562																																						dbGAP											0													81.0	80.0	80.0					22																	22707571		1971	4171	6142	-	-	-			0			Z73649		22q11.2	2012-02-08	2008-09-15		ENSG00000211647	ENSG00000211647		"""Immunoglobulins / IGL locus"""	5925	other	immunoglobulin gene			"""immunoglobulin lambda variable 5-48"""				Standard	NG_000002		Approved				OTTHUMG00000151041		22.37:g.22707571G>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.R53S	ENST00000390293.1	37	c.159		22																																																																																			IGLV5-48	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000211647		0.562	IGLV5-48-001	KNOWN	not_best_in_genome_evidence|mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGLV5-48	HGNC	IG_V_gene	OTTHUMT00000321100.2	65	0.00	0	G	NG_000002		22707571	22707571	+1	no_stop_codon	ENST00000390293	ensembl	human	known	69_37n	missense	74	26.73	27	SNP	0.000	C
IGLV3-19	28797	genome.wustl.edu	37	22	23063433	23063433	+	RNA	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:23063433G>A	ENST00000390309.2	+	0	180									immunoglobulin lambda variable 3-19																		GACAGCCTCAGAAGCTATTAT	0.532																																						dbGAP											0													37.0	41.0	40.0					22																	23063433		1968	4159	6127	-	-	-			0			X56178		22q11.2	2012-02-08			ENSG00000211663	ENSG00000211663		"""Immunoglobulins / IGL locus"""	5903	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151226		22.37:g.23063433G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.R47K	ENST00000390309.2	37	c.140		22																																																																																			IGLV3-19	-	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000211663		0.532	IGLV3-19-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGLV3-19	HGNC	IG_V_gene	OTTHUMT00000321830.1	40	0.00	0	G	NG_000002		23063433	23063433	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000390309	ensembl	human	known	69_37n	missense	58	38.30	36	SNP	0.000	A
IGLL5	100423062	genome.wustl.edu	37	22	23235904	23235904	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:23235904G>C	ENST00000526893.1	+	2	505	c.231G>C	c.(229-231)caG>caC	p.Q77H	IGLL5_ENST00000532223.2_Missense_Mutation_p.Q78H|IGLJ1_ENST00000390320.2_RNA|IGLC1_ENST00000390321.2_RNA|IGLL5_ENST00000531372.1_Intron	NM_001178126.1	NP_001171597.1	B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	77						extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						CCAGCCCCCAGAGAGCAGACC	0.652																																						dbGAP											0													41.0	48.0	46.0					22																	23235904		691	1589	2280	-	-	-	SO:0001583	missense	0			M34518, M34515	CCDS54506.1	22q11.22	2013-01-11			ENSG00000254709	ENSG00000254709		"""Immunoglobulin superfamily / C1-set domain containing"""	38476	protein-coding gene	gene with protein product							Standard	NM_001178126		Approved		uc010gtu.3	B9A064	OTTHUMG00000165670	ENST00000526893.1:c.231G>C	22.37:g.23235904G>C	ENSP00000431254:p.Gln77His	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like	p.Q78H	ENST00000526893.1	37	c.234	CCDS54506.1	22	.	.	.	.	.	.	.	.	.	.	G	6.540	0.467853	0.12402	.	.	ENSG00000254709	ENST00000532223;ENST00000526893	T;T	0.00566	6.55;6.55	2.9	-3.31	0.04988	.	.	.	.	.	T	0.00300	0.0009	N	0.12182	0.205	0.09310	N	1	P	0.50066	0.931	B	0.40864	0.342	T	0.45338	-0.9268	9	0.62326	D	0.03	.	0.4702	0.00530	0.2774:0.1897:0.3404:0.1925	.	77	B9A064	IGLL5_HUMAN	H	78;77	ENSP00000436353:Q78H;ENSP00000431254:Q77H	ENSP00000417505:Q11H	Q	+	3	2	IGLL5	21565904	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	0.147000	0.16202	-0.665000	0.05317	0.491000	0.48974	CAG	IGLL5	-	NULL	ENSG00000254709		0.652	IGLL5-002	KNOWN	basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	IGLL5	HGNC	protein_coding	OTTHUMT00000385699.1	61	0.00	0	G	NM_001178126		23235904	23235904	+1	no_errors	ENST00000532223	ensembl	human	known	69_37n	missense	90	27.42	34	SNP	0.000	C
IGSF10	285313	genome.wustl.edu	37	3	151163432	151163432	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:151163432G>C	ENST00000282466.3	-	4	4336	c.4337C>G	c.(4336-4338)tCa>tGa	p.S1446*		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1446					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ACTCTGGTGTGATTTGCTGGA	0.433																																						dbGAP											0													192.0	171.0	178.0					3																	151163432		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.4337C>G	3.37:g.151163432G>C	ENSP00000282466:p.Ser1446*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86YJ9|Q8N772|Q8NA84	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.S1446*	ENST00000282466.3	37	c.4337	CCDS3160.1	3	.	.	.	.	.	.	.	.	.	.	G	39	7.843076	0.98519	.	.	ENSG00000152580	ENST00000282466;ENST00000544042	.	.	.	5.69	-3.71	0.04424	.	0.621864	0.13077	N	0.415629	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	5.3177	0.15864	0.1164:0.2125:0.5515:0.1196	.	.	.	.	X	1446;73	.	ENSP00000282466:S1446X	S	-	2	0	IGSF10	152646122	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	0.157000	0.16402	-0.854000	0.04131	0.650000	0.86243	TCA	IGSF10	-	NULL	ENSG00000152580		0.433	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF10	HGNC	protein_coding	OTTHUMT00000357782.1	76	0.00	0	G	NM_178822		151163432	151163432	-1	no_errors	ENST00000282466	ensembl	human	known	69_37n	nonsense	82	29.31	34	SNP	0.000	C
IGSF22	283284	genome.wustl.edu	37	11	18733777	18733777	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:18733777C>G	ENST00000513874.1	-	15	2389	c.2250G>C	c.(2248-2250)aaG>aaC	p.K750N	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	749	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CCTCGCCTATCTTAATCCAGG	0.522																																						dbGAP											0													157.0	129.0	138.0					11																	18733777		692	1591	2283	-	-	-	SO:0001583	missense	0			AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.2250G>C	11.37:g.18733777C>G	ENSP00000421191:p.Lys750Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NNA0|D6RGV7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.K750N	ENST00000513874.1	37	c.2250	CCDS41625.2	11	.	.	.	.	.	.	.	.	.	.	c	16.71	3.199507	0.58126	.	.	ENSG00000179057	ENST00000513874	T	0.57107	0.42	4.24	2.14	0.27477	.	.	.	.	.	T	0.60143	0.2246	L	0.60067	1.865	0.21499	N	0.999667	D	0.69078	0.997	D	0.66979	0.948	T	0.46789	-0.9166	9	0.22109	T	0.4	.	5.9909	0.19460	0.0:0.5881:0.0:0.4119	.	750	D6RGV7	.	N	750	ENSP00000421191:K750N	ENSP00000421191:K750N	K	-	3	2	IGSF22	18690353	0.001000	0.12720	0.993000	0.49108	0.997000	0.91878	0.298000	0.19120	0.882000	0.36016	0.645000	0.84053	AAG	IGSF22	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000179057		0.522	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF22	HGNC	protein_coding	OTTHUMT00000360850.2	85	0.00	0	C	NM_173588		18733777	18733777	-1	no_errors	ENST00000513874	ensembl	human	known	69_37n	missense	112	19.42	27	SNP	0.982	G
IGSF3	3321	genome.wustl.edu	37	1	117122183	117122183	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:117122183G>A	ENST00000369486.3	-	10	3930	c.3165C>T	c.(3163-3165)ttC>ttT	p.F1055F	IGSF3_ENST00000369483.1_Silent_p.F1075F|IGSF3_ENST00000318837.6_Silent_p.F1075F	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	1055	Ig-like C2-type 8.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		AGAGCCTCTGGAAGCGAAGCC	0.647																																						dbGAP											0													48.0	49.0	48.0					1																	117122183		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.3165C>T	1.37:g.117122183G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJZ6|A6NMC7	Silent	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.F1075	ENST00000369486.3	37	c.3225	CCDS30813.1	1																																																																																			IGSF3	-	smart_Ig_sub,pfscan_Ig-like	ENSG00000143061		0.647	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGSF3	HGNC	protein_coding	OTTHUMT00000059040.1	27	0.00	0	G	NM_001542		117122183	117122183	-1	no_errors	ENST00000318837	ensembl	human	known	69_37n	silent	31	16.22	6	SNP	0.994	A
IGSF9	57549	genome.wustl.edu	37	1	159900090	159900090	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:159900090C>A	ENST00000368094.1	-	15	2150	c.1953G>T	c.(1951-1953)aaG>aaT	p.K651N	IGSF9_ENST00000361509.3_Missense_Mutation_p.K635N|IGSF9_ENST00000493195.1_5'UTR	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	651	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			CATCCAGTCTCTTAGGGACCA	0.662																																						dbGAP											0													89.0	96.0	93.0					1																	159900090		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.1953G>T	1.37:g.159900090C>A	ENSP00000357073:p.Lys651Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.K651N	ENST00000368094.1	37	c.1953	CCDS44254.1	1	.	.	.	.	.	.	.	.	.	.	C	7.050	0.564320	0.13498	.	.	ENSG00000085552	ENST00000361509;ENST00000368094	T;T	0.53206	0.63;0.63	5.3	4.18	0.49190	Fibronectin, type III (4);Immunoglobulin-like fold (1);	1.097800	0.07111	N	0.842290	T	0.12178	0.0296	N	0.03608	-0.345	0.09310	N	1	B	0.21821	0.061	B	0.27380	0.079	T	0.18461	-1.0336	9	.	.	.	-0.0066	12.0903	0.53722	0.0:0.9006:0.0:0.0994	.	651	Q9P2J2	TUTLA_HUMAN	N	635;651	ENSP00000355049:K635N;ENSP00000357073:K651N	.	K	-	3	2	IGSF9	158166714	0.003000	0.15002	0.139000	0.22197	0.995000	0.86356	1.300000	0.33436	2.465000	0.83290	0.555000	0.69702	AAG	IGSF9	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000085552		0.662	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF9	HGNC	protein_coding	OTTHUMT00000059115.1	40	0.00	0	C	NM_020789		159900090	159900090	-1	no_errors	ENST00000368094	ensembl	human	known	69_37n	missense	45	13.46	7	SNP	0.009	A
IKBIP	121457	genome.wustl.edu	37	12	99007369	99007369	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:99007369C>G	ENST00000342502.2	-	3	1458	c.1047G>C	c.(1045-1047)atG>atC	p.M349I	IKBIP_ENST00000420861.1_Missense_Mutation_p.M243I|IKBIP_ENST00000393042.3_3'UTR	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein	349					response to X-ray (GO:0010165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						CAAACTAATTCATATCTGAAA	0.274																																						dbGAP											0													42.0	46.0	44.0					12																	99007369		2195	4288	6483	-	-	-	SO:0001583	missense	0			AJ539425	CCDS9067.1, CCDS9068.1, CCDS41822.1	12q23.1	2010-02-17			ENSG00000166130	ENSG00000166130			26430	protein-coding gene	gene with protein product	"""I kappa B kinase interacting protein"""	609861				15389287	Standard	NM_153687		Approved	FLJ31051, IKIP	uc001tfx.4	Q70UQ0	OTTHUMG00000170213	ENST00000342502.2:c.1047G>C	12.37:g.99007369C>G	ENSP00000343471:p.Met349Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZWH4|Q70UP9|Q86V91|Q96ND2	Missense_Mutation	SNP	NULL	p.M349I	ENST00000342502.2	37	c.1047	CCDS9067.1	12	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.211862	0.00289	.	.	ENSG00000166130	ENST00000342502;ENST00000420861	T;T	0.37235	1.23;1.21	4.73	2.5	0.30297	.	.	.	.	.	T	0.15478	0.0373	N	0.08118	0	0.21147	N	0.999772	B	0.02656	0.0	B	0.04013	0.001	T	0.29640	-1.0005	9	0.09590	T	0.72	.	6.5425	0.22388	0.16:0.647:0.0:0.1931	.	349	Q70UQ0	IKIP_HUMAN	I	349;243	ENSP00000343471:M349I;ENSP00000398023:M243I	ENSP00000343471:M349I	M	-	3	0	IKBIP	97531500	0.449000	0.25689	0.945000	0.38365	0.168000	0.22595	0.084000	0.14891	0.980000	0.38523	-0.242000	0.12053	ATG	IKBIP	-	NULL	ENSG00000166130		0.274	IKBIP-003	KNOWN	basic|CCDS	protein_coding	IKBIP	HGNC	protein_coding	OTTHUMT00000408003.2	40	0.00	0	C	NM_153687		99007369	99007369	-1	no_errors	ENST00000342502	ensembl	human	known	69_37n	missense	30	14.29	5	SNP	0.932	G
IKBKAP	8518	genome.wustl.edu	37	9	111640963	111640963	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:111640963C>G	ENST00000374647.5	-	34	3947	c.3640G>C	c.(3640-3642)Gag>Cag	p.E1214Q	IKBKAP_ENST00000467959.1_5'Flank|IKBKAP_ENST00000537196.1_Missense_Mutation_p.E865Q	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	1214					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GCCAGGTCCTCCAGCGGACTG	0.483																																						dbGAP											0													238.0	236.0	236.0					9																	111640963		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"""Elongator acetyltransferase complex subunits"""	5959	protein-coding gene	gene with protein product	"""elongator acetyltransferase complex subunit 1"""	603722	"""dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"""	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.3640G>C	9.37:g.111640963C>G	ENSP00000363779:p.Glu1214Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JSV2|Q9H327|Q9UG87	Missense_Mutation	SNP	pfam_IKI3,superfamily_ARM-type_fold,superfamily_UBA-like,pirsf_IKI3	p.E1214Q	ENST00000374647.5	37	c.3640	CCDS6773.1	9	.	.	.	.	.	.	.	.	.	.	C	22.6	4.313309	0.81358	.	.	ENSG00000070061	ENST00000374647;ENST00000537196	T;T	0.80393	-0.67;-1.37	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.91492	0.7314	M	0.88450	2.955	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	D	0.92450	0.5969	10	0.87932	D	0	-22.5094	17.6957	0.88281	0.0:1.0:0.0:0.0	.	1214	O95163	ELP1_HUMAN	Q	1214;865	ENSP00000363779:E1214Q;ENSP00000439367:E865Q	ENSP00000363779:E1214Q	E	-	1	0	IKBKAP	110680784	1.000000	0.71417	0.998000	0.56505	0.405000	0.30901	6.594000	0.74104	2.776000	0.95493	0.655000	0.94253	GAG	IKBKAP	-	pirsf_IKI3	ENSG00000070061		0.483	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKBKAP	HGNC	protein_coding	OTTHUMT00000053574.1	67	0.00	0	C			111640963	111640963	-1	no_errors	ENST00000374647	ensembl	human	known	69_37n	missense	68	13.75	11	SNP	1.000	G
IKBKB	3551	genome.wustl.edu	37	8	42183569	42183569	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:42183569C>G	ENST00000520810.1	+	20	2254	c.2068C>G	c.(2068-2070)Cag>Gag	p.Q690E	IKBKB_ENST00000520835.1_Missense_Mutation_p.Q688E|IKBKB_ENST00000416505.2_Missense_Mutation_p.Q631E|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000379708.3_Missense_Mutation_p.Q467E	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	690					B cell homeostasis (GO:0001782)|cellular response to tumor necrosis factor (GO:0071356)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cation channel activity (GO:2001259)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|serine phosphorylation of STAT protein (GO:0042501)|T cell receptor signaling pathway (GO:0050852)|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)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	GCTGATGTCTCAGCCCTCCAC	0.562																																						dbGAP											0													104.0	89.0	94.0					8																	42183569		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF029684	CCDS6128.1, CCDS55228.1, CCDS56535.1	8p11.2	2008-08-18			ENSG00000104365	ENSG00000104365			5960	protein-coding gene	gene with protein product		603258				9878263, 9763654	Standard	NM_001556		Approved	IKK2, NFKBIKB, IKK-beta, IKKB	uc003xow.2	O14920	OTTHUMG00000164092	ENST00000520810.1:c.2068C>G	8.37:g.42183569C>G	ENSP00000430684:p.Gln690Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZ30|B4E0U4|O75327	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IKKbetaNEMObind,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ubiquitin_supergroup,prints_Ser-Thr/Tyr_kinase_cat_dom	p.Q690E	ENST00000520810.1	37	c.2068	CCDS6128.1	8	.	.	.	.	.	.	.	.	.	.	C	12.23	1.875228	0.33162	.	.	ENSG00000104365	ENST00000520810;ENST00000416505;ENST00000520835;ENST00000379708	T;T;T;T	0.74632	-0.78;-0.86;-0.68;2.94	5.59	5.59	0.84812	.	0.137916	0.50627	D	0.000102	T	0.78848	0.4348	L	0.34521	1.04	0.46749	D	0.999187	P;B;D;B	0.58268	0.824;0.27;0.982;0.176	B;B;D;B	0.67548	0.35;0.249;0.952;0.127	T	0.72093	-0.4394	10	0.13470	T	0.59	-34.5311	19.1875	0.93649	0.0:1.0:0.0:0.0	.	631;688;467;690	B4E0U4;O14920-2;B3KRB7;O14920	.;.;.;IKKB_HUMAN	E	690;631;688;467	ENSP00000430684:Q690E;ENSP00000404920:Q631E;ENSP00000430868:Q688E;ENSP00000369030:Q467E	ENSP00000369030:Q467E	Q	+	1	0	IKBKB	42302726	1.000000	0.71417	0.992000	0.48379	0.552000	0.35366	5.537000	0.67186	2.640000	0.89533	0.462000	0.41574	CAG	IKBKB	-	NULL	ENSG00000104365		0.562	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IKBKB	HGNC	protein_coding	OTTHUMT00000377214.1	59	0.00	0	C			42183569	42183569	+1	no_errors	ENST00000520810	ensembl	human	known	69_37n	missense	34	41.38	24	SNP	1.000	G
IKBKE	9641	genome.wustl.edu	37	1	206648276	206648276	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:206648276G>C	ENST00000367120.3	+	5	670	c.297G>C	c.(295-297)gaG>gaC	p.E99D	IKBKE_ENST00000537984.1_Missense_Mutation_p.E14D|IKBKE_ENST00000463979.1_3'UTR	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	99	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				immune response (GO:0006955)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of type I interferon production (GO:0032480)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein phosphorylation (GO:0006468)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|NF-kappaB-inducing kinase activity (GO:0004704)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					GTGTGCTGGAGAGCCCTGAGA	0.627																																						dbGAP											0													181.0	136.0	151.0					1																	206648276		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB016590	CCDS30996.1, CCDS53464.1, CCDS73019.1	1q31	2014-05-06			ENSG00000143466				14552	protein-coding gene	gene with protein product		605048				10421793, 10882136	Standard	NM_001193321		Approved	IKKE, IKK-i, KIAA0151	uc001hdz.2	Q14164	OTTHUMG00000184613	ENST00000367120.3:c.297G>C	1.37:g.206648276G>C	ENSP00000356087:p.Glu99Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DT78|Q3B754|Q3KR43|Q5JTS6	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.E99D	ENST00000367120.3	37	c.297	CCDS30996.1	1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.729788	0.48833	.	.	ENSG00000143466	ENST00000367120;ENST00000537984	T;T	0.66280	-0.2;-0.2	5.41	1.95	0.26073	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.58206	0.2106	N	0.13168	0.305	0.39258	D	0.964165	D;P	0.89917	1.0;0.914	D;P	0.87578	0.998;0.732	T	0.53187	-0.8474	10	0.23302	T	0.38	.	8.8583	0.35242	0.3613:0.0:0.6387:0.0	.	14;99	Q3B754;Q14164	.;IKKE_HUMAN	D	99;14	ENSP00000356087:E99D;ENSP00000444529:E14D	ENSP00000356087:E99D	E	+	3	2	IKBKE	204714899	1.000000	0.71417	0.980000	0.43619	0.890000	0.51754	0.752000	0.26362	0.096000	0.17463	0.561000	0.74099	GAG	IKBKE	-	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	ENSG00000143466		0.627	IKBKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKBKE	HGNC	protein_coding	OTTHUMT00000088484.1	97	0.00	0	G			206648276	206648276	+1	no_errors	ENST00000367120	ensembl	human	known	69_37n	missense	155	11.43	20	SNP	1.000	C
IL10RA	3587	genome.wustl.edu	37	11	117869438	117869438	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:117869438G>A	ENST00000227752.3	+	7	939	c.819G>A	c.(817-819)aaG>aaA	p.K273K	IL10RA_ENST00000541785.1_Silent_p.K253K|IL10RA_ENST00000545409.1_Silent_p.K124K|IL10RA_ENST00000533700.1_3'UTR	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	273					cytokine-mediated signaling pathway (GO:0019221)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-10 receptor activity (GO:0004920)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		AGCTCTTCAAGAAGCCCAGCC	0.612																																						dbGAP											0													70.0	60.0	63.0					11																	117869438		2200	4296	6496	-	-	-	SO:0001819	synonymous_variant	0			U00672	CCDS8388.1	11q23	2014-09-17			ENSG00000110324	ENSG00000110324		"""Interleukins and interleukin receptors"", ""CD molecules"""	5964	protein-coding gene	gene with protein product		146933		IL10R		8120391	Standard	NR_026691		Approved	HIL-10R, CDW210A, CD210a, CD210	uc001prv.3	Q13651	OTTHUMG00000166523	ENST00000227752.3:c.819G>A	11.37:g.117869438G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6I0|B0YJ27	Silent	SNP	superfamily_Fibronectin_type3	p.K273	ENST00000227752.3	37	c.819	CCDS8388.1	11																																																																																			IL10RA	-	NULL	ENSG00000110324		0.612	IL10RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL10RA	HGNC	protein_coding	OTTHUMT00000390167.1	77	0.00	0	G			117869438	117869438	+1	no_errors	ENST00000227752	ensembl	human	known	69_37n	silent	53	23.19	16	SNP	0.088	A
IL12B	3593	genome.wustl.edu	37	5	158743780	158743780	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:158743780G>A	ENST00000231228.2	-	7	1355	c.900C>T	c.(898-900)tgC>tgT	p.C300C	RNU4ATAC2P_ENST00000408674.1_RNA	NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	interleukin 12B	300	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|interferon-gamma biosynthetic process (GO:0042095)|natural killer cell activation (GO:0030101)|natural killer cell activation involved in immune response (GO:0002323)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of cell adhesion (GO:0045785)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of NK T cell proliferation (GO:0051142)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to UV-B (GO:0010224)|sensory perception of pain (GO:0019233)|sexual reproduction (GO:0019953)|T-helper 1 type immune response (GO:0042088)|T-helper cell differentiation (GO:0042093)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|interleukin-12 complex (GO:0043514)|interleukin-23 complex (GO:0070743)|membrane (GO:0016020)	cytokine receptor activity (GO:0004896)|identical protein binding (GO:0042802)|interleukin-12 alpha subunit binding (GO:0042164)|interleukin-12 receptor binding (GO:0005143)|protein heterodimerization activity (GO:0046982)			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CATTTTTGCGGCAGATGACCG	0.537											OREG0016989	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													94.0	85.0	88.0					5																	158743780		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M65290	CCDS4346.1	5q31.1-q33.1	2014-09-17	2014-04-04		ENSG00000113302	ENSG00000113302		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5970	protein-coding gene	gene with protein product	"""natural killer cell stimulatory factor-2"", ""cytotoxic lymphocyte maturation factor 2, p40"", ""interleukin 12, p40"", ""natural killer cell stimulatory factor, 40 kD subunit"", ""interleukin-12 beta chain"", ""IL12, subunit p40"""	161561	"""interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)"""	NKSF2		1673147	Standard	NM_002187		Approved	CLMF, IL-12B, NKSF, CLMF2	uc003lxr.1	P29460	OTTHUMG00000130307	ENST00000231228.2:c.900C>T	5.37:g.158743780G>A		Somatic	1796	WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pirsf_IL_12_beta,pfam_Interleukin-12_bsu_cen-dom,superfamily_Fibronectin_type3,smart_Ig_sub2,prints_IL_12_beta,pfscan_Fibronectin_type3,pfscan_Ig-like	p.C300	ENST00000231228.2	37	c.900	CCDS4346.1	5																																																																																			IL12B	-	pirsf_IL_12_beta,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000113302		0.537	IL12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL12B	HGNC	protein_coding	OTTHUMT00000252652.2	39	0.00	0	G	NM_002187		158743780	158743780	-1	no_errors	ENST00000231228	ensembl	human	known	69_37n	silent	50	23.08	15	SNP	0.961	A
IL12RB2	3595	genome.wustl.edu	37	1	67861458	67861458	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:67861458G>A	ENST00000262345.1	+	16	2915	c.2275G>A	c.(2275-2277)Gag>Aag	p.E759K	IL12RB2_ENST00000541374.1_3'UTR|IL12RB2_ENST00000544434.1_Missense_Mutation_p.E673K|IL12RB2_ENST00000371000.1_3'UTR	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	759					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma production (GO:0032609)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interferon-gamma production (GO:0032729)|response to lipopolysaccharide (GO:0032496)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						TCTCCAAGCTGAGAGCAGACA	0.577																																						dbGAP											0													94.0	89.0	91.0					1																	67861458		2203	4300	6503	-	-	-	SO:0001583	missense	0			U64198	CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1	1p31.3-p31.2	2014-07-15			ENSG00000081985	ENSG00000081985		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	5972	protein-coding gene	gene with protein product		601642				9284929, 8943050	Standard	NM_001559		Approved		uc001ddu.3	Q99665	OTTHUMG00000009094	ENST00000262345.1:c.2275G>A	1.37:g.67861458G>A	ENSP00000262345:p.Glu759Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_IgC2-like_lig-bd,pfam_IL6_recept-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.E759K	ENST00000262345.1	37	c.2275	CCDS638.1	1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.501098	0.64298	.	.	ENSG00000081985	ENST00000262345;ENST00000544434	T;T	0.51325	0.71;1.46	4.15	4.15	0.48705	.	0.676456	0.15069	N	0.282305	T	0.47875	0.1469	M	0.65975	2.015	0.46149	D	0.99889	D;P	0.61697	0.99;0.884	P;P	0.56042	0.79;0.593	T	0.38090	-0.9677	10	0.30078	T	0.28	-12.8141	12.1296	0.53936	0.0:0.0:1.0:0.0	.	673;759	F5H7L6;Q99665	.;I12R2_HUMAN	K	759;673	ENSP00000262345:E759K;ENSP00000442443:E673K	ENSP00000262345:E759K	E	+	1	0	IL12RB2	67634046	0.933000	0.31639	0.064000	0.19789	0.025000	0.11179	4.113000	0.57851	2.327000	0.79052	0.561000	0.74099	GAG	IL12RB2	-	NULL	ENSG00000081985		0.577	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL12RB2	HGNC	protein_coding	OTTHUMT00000025202.2	51	0.00	0	G	NM_001559		67861458	67861458	+1	no_errors	ENST00000262345	ensembl	human	known	69_37n	missense	37	31.48	17	SNP	0.062	A
IL15	3600	genome.wustl.edu	37	4	142653952	142653952	+	Missense_Mutation	SNP	T	T	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:142653952T>A	ENST00000296545.7	+	8	1284	c.440T>A	c.(439-441)tTt>tAt	p.F147Y	IL15_ENST00000477265.1_Missense_Mutation_p.F120Y|IL15_ENST00000529613.1_Missense_Mutation_p.F147Y|IL15_ENST00000320650.4_Missense_Mutation_p.F147Y|IL15_ENST00000394159.1_Missense_Mutation_p.F120Y|IL15_ENST00000514653.1_Missense_Mutation_p.F120Y			P40933	IL15_HUMAN	interleukin 15	147					aging (GO:0007568)|cell maturation (GO:0048469)|cell-cell signaling (GO:0007267)|cellular response to vitamin D (GO:0071305)|extrathymic T cell selection (GO:0045062)|hyaluronan metabolic process (GO:0030212)|immune response (GO:0006955)|inflammatory response (GO:0006954)|lymph node development (GO:0048535)|natural killer cell differentiation (GO:0001779)|negative regulation of smooth muscle cell proliferation (GO:0048662)|NK T cell proliferation (GO:0001866)|positive regulation of cell proliferation (GO:0008284)|positive regulation of immune response (GO:0050778)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of defense response to virus by host (GO:0050691)|regulation of T cell differentiation (GO:0045580)|signal transduction (GO:0007165)|skeletal muscle atrophy (GO:0014732)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)				kidney(1)|large_intestine(1)|lung(2)|stomach(1)	5	all_hematologic(180;0.158)					ATTAAAGAATTTTTGCAGAGT	0.294																																					Pancreas(10;184 986 25902)	dbGAP											0													78.0	89.0	85.0					4																	142653952		2203	4297	6500	-	-	-	SO:0001583	missense	0			U14407	CCDS3755.1, CCDS3756.1	4q31	2011-07-14			ENSG00000164136	ENSG00000164136		"""Interleukins and interleukin receptors"""	5977	protein-coding gene	gene with protein product		600554				8178155	Standard	NM_000585		Approved	IL-15, MGC9721	uc003iis.3	P40933	OTTHUMG00000133418	ENST00000296545.7:c.440T>A	4.37:g.142653952T>A	ENSP00000296545:p.Phe147Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DNZ2|O00440|O43512|Q495Z8|Q6FGX7|Q93058|Q9UBA3	Missense_Mutation	SNP	pfam_Interleukin_15-like,prints_Interleukin-15_mammal,prints_Interleukin-15	p.F147Y	ENST00000296545.7	37	c.440	CCDS3755.1	4	.	.	.	.	.	.	.	.	.	.	T	25.3	4.624695	0.87560	.	.	ENSG00000164136	ENST00000320650;ENST00000296545;ENST00000514653;ENST00000529613;ENST00000477265;ENST00000394159	.	.	.	5.77	5.77	0.91146	.	0.079207	0.56097	D	0.000036	T	0.78039	0.4221	M	0.82923	2.615	0.37683	D	0.923548	D	0.63880	0.993	P	0.62382	0.901	D	0.83896	0.0287	9	0.87932	D	0	-15.0493	12.7629	0.57374	0.0:0.0:0.0:1.0	.	147	P40933	IL15_HUMAN	Y	147;147;120;147;120;120	.	ENSP00000296545:F147Y	F	+	2	0	IL15	142873402	1.000000	0.71417	0.969000	0.41365	0.997000	0.91878	3.858000	0.55979	2.330000	0.79161	0.528000	0.53228	TTT	IL15	-	pfam_Interleukin_15-like,prints_Interleukin-15	ENSG00000164136		0.294	IL15-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IL15	HGNC	protein_coding	OTTHUMT00000257278.2	107	0.00	0	T	NM_172175		142653952	142653952	+1	no_errors	ENST00000296545	ensembl	human	known	69_37n	missense	50	24.24	16	SNP	1.000	A
IL16	3603	genome.wustl.edu	37	15	81517852	81517852	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:81517852G>C	ENST00000302987.4	+	1	112	c.112G>C	c.(112-114)Gat>Cat	p.D38H	IL16_ENST00000394660.2_Missense_Mutation_p.D38H			Q14005	IL16_HUMAN	interleukin 16	38					immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						CTCTAGCCCTGATGAGAAATA	0.522																																						dbGAP											0													86.0	87.0	86.0					15																	81517852		2001	4182	6183	-	-	-	SO:0001583	missense	0			U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.112G>C	15.37:g.81517852G>C	ENSP00000302935:p.Asp38His	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,prints_Interleukin-16	p.D38H	ENST00000302987.4	37	c.112	CCDS42069.1	15	.	.	.	.	.	.	.	.	.	.	G	14.92	2.678760	0.47886	.	.	ENSG00000172349	ENST00000394655;ENST00000360547;ENST00000394660;ENST00000302987	T;T	0.17370	2.28;2.28	4.18	4.18	0.49190	.	0.183419	0.26156	N	0.026006	T	0.41627	0.1167	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.96;0.982	T	0.44050	-0.9353	10	0.72032	D	0.01	.	16.6985	0.85342	0.0:0.0:1.0:0.0	.	38;38	Q14005;Q14005-2	IL16_HUMAN;.	H	38;80;38;38	ENSP00000378155:D38H;ENSP00000302935:D38H	ENSP00000302935:D38H	D	+	1	0	IL16	79304907	1.000000	0.71417	0.711000	0.30485	0.394000	0.30568	6.355000	0.73041	2.155000	0.67459	0.563000	0.77884	GAT	IL16	-	NULL	ENSG00000172349		0.522	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL16	HGNC	protein_coding	OTTHUMT00000303952.1	60	0.00	0	G	NM_172217		81517852	81517852	+1	no_errors	ENST00000302987	ensembl	human	known	69_37n	missense	46	26.98	17	SNP	0.978	C
IL17RB	55540	genome.wustl.edu	37	3	53894240	53894240	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:53894240C>G	ENST00000288167.3	+	10	940	c.931C>G	c.(931-933)Cta>Gta	p.L311V	RP11-884K10.7_ENST00000607783.1_RNA	NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN	interleukin 17 receptor B	311					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|regulation of cell growth (GO:0001558)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	cytokine receptor activity (GO:0004896)			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		AGGGATCTATCTAATGTGGAG	0.448																																						dbGAP											0													94.0	108.0	103.0					3																	53894240		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF212365	CCDS2874.1	3p21.1	2008-02-05		2003-07-09	ENSG00000056736	ENSG00000056736		"""Interleukins and interleukin receptors"""	18015	protein-coding gene	gene with protein product		605458	"""interleukin 17B receptor"""	IL17BR		10749887, 10815801	Standard	NM_018725		Approved	IL17RH1, EVI27, CRL4	uc003dha.3	Q9NRM6	OTTHUMG00000158280	ENST00000288167.3:c.931C>G	3.37:g.53894240C>G	ENSP00000288167:p.Leu311Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BPZ0|Q9NRL4|Q9NRM5	Missense_Mutation	SNP	pfam_SEFIR	p.L311V	ENST00000288167.3	37	c.931	CCDS2874.1	3	.	.	.	.	.	.	.	.	.	.	C	13.19	2.162370	0.38217	.	.	ENSG00000056736	ENST00000288167;ENST00000494338	T;T	0.15487	3.17;2.42	5.45	2.6	0.31112	.	0.378969	0.21233	N	0.077946	T	0.14917	0.0360	M	0.64997	1.995	0.09310	N	1	B	0.27882	0.192	B	0.25987	0.065	T	0.19353	-1.0308	10	0.37606	T	0.19	-7.0527	3.5702	0.07914	0.1763:0.5632:0.1701:0.0904	.	311	Q9NRM6	I17RB_HUMAN	V	311;295	ENSP00000288167:L311V;ENSP00000418638:L295V	ENSP00000288167:L311V	L	+	1	2	IL17RB	53869280	0.006000	0.16342	0.004000	0.12327	0.642000	0.38348	0.447000	0.21710	0.623000	0.30267	0.655000	0.94253	CTA	IL17RB	-	NULL	ENSG00000056736		0.448	IL17RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL17RB	HGNC	protein_coding	OTTHUMT00000350563.1	89	0.00	0	C	NM_172234		53894240	53894240	+1	no_errors	ENST00000288167	ensembl	human	known	69_37n	missense	69	15.85	13	SNP	0.008	G
IL17RD	54756	genome.wustl.edu	37	3	57144296	57144296	+	Silent	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:57144296C>A	ENST00000296318.7	-	4	442	c.354G>T	c.(352-354)ctG>ctT	p.L118L	IL17RD_ENST00000463523.1_5'UTR|IL17RD_ENST00000320057.5_5'UTR|IL17RD_ENST00000427856.2_Silent_p.L94L	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	118					signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		CCTCCGACTTCAGCTCCTCCA	0.438																																						dbGAP											0													120.0	107.0	111.0					3																	57144296		1906	4136	6042	-	-	-	SO:0001819	synonymous_variant	0			AF494208	CCDS2880.2	3p21.1	2008-02-05			ENSG00000144730	ENSG00000144730		"""Interleukins and interleukin receptors"""	17616	protein-coding gene	gene with protein product		606807				11802164, 12604616	Standard	NM_017563		Approved	SEF, IL17RLM, FLJ35755, IL-17RD	uc003dil.3	Q8NFM7	OTTHUMG00000150171	ENST00000296318.7:c.354G>T	3.37:g.57144296C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2NKP7|Q58EZ7|Q6RVF4|Q6UWI5|Q8N113|Q8NFS0|Q9UFA0	Silent	SNP	pfam_SEFIR,superfamily_TIR_dom	p.L118	ENST00000296318.7	37	c.354	CCDS2880.2	3																																																																																			IL17RD	-	NULL	ENSG00000144730		0.438	IL17RD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IL17RD	HGNC	protein_coding	OTTHUMT00000316680.1	110	0.00	0	C	NM_017563		57144296	57144296	-1	no_errors	ENST00000296318	ensembl	human	known	69_37n	silent	132	17.50	28	SNP	1.000	A
IL1RAPL1	11141	genome.wustl.edu	37	X	29301120	29301120	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:29301120C>T	ENST00000378993.1	+	3	821	c.148C>T	c.(148-150)Cga>Tga	p.R50*	IL1RAPL1_ENST00000302196.4_Nonsense_Mutation_p.R50*	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	50	Ig-like C2-type 1.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)	p.R50*(2)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						AGAGCCTGTTCGAATCAAATG	0.413																																						dbGAP											2	Substitution - Nonsense(2)	large_intestine(2)											143.0	126.0	132.0					X																	29301120		2202	4300	6502	-	-	-	SO:0001587	stop_gained	0			AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.148C>T	X.37:g.29301120C>T	ENSP00000368278:p.Arg50*	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVG4|Q9UJ53	Nonsense_Mutation	SNP	pfam_TIR_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_TIR_dom,smart_Ig_sub,smart_Ig_sub2,smart_TIR_dom,prints_IL1_rcpt_1,pfscan_TIR_dom,pfscan_Ig-like	p.R50*	ENST00000378993.1	37	c.148	CCDS14218.1	X	.	.	.	.	.	.	.	.	.	.	C	43	9.909426	0.99293	.	.	ENSG00000169306	ENST00000378993;ENST00000302196	.	.	.	5.51	4.62	0.57501	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	13.7032	0.62622	0.1586:0.8414:0.0:0.0	.	.	.	.	X	50	.	ENSP00000305200:R50X	R	+	1	2	IL1RAPL1	29211041	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.745000	0.38278	1.161000	0.42604	0.600000	0.82982	CGA	IL1RAPL1	-	smart_Ig_sub,pfscan_Ig-like	ENSG00000169306		0.413	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1RAPL1	HGNC	protein_coding	OTTHUMT00000056155.1	162	0.00	0	C	NM_014271		29301120	29301120	+1	no_errors	ENST00000302196	ensembl	human	known	69_37n	nonsense	108	44.90	88	SNP	1.000	T
IL1RAPL1	11141	genome.wustl.edu	37	X	29972752	29972752	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:29972752G>A	ENST00000378993.1	+	10	1988	c.1315G>A	c.(1315-1317)Gaa>Aaa	p.E439K	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.E439K	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	439	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)	p.E439Q(4)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TGATATGCTTGAAAAGCATTA	0.373																																						dbGAP											4	Substitution - Missense(4)	lung(4)											93.0	81.0	85.0					X																	29972752		2202	4300	6502	-	-	-	SO:0001583	missense	0			AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.1315G>A	X.37:g.29972752G>A	ENSP00000368278:p.Glu439Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVG4|Q9UJ53	Missense_Mutation	SNP	pfam_TIR_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_TIR_dom,smart_Ig_sub,smart_Ig_sub2,smart_TIR_dom,prints_IL1_rcpt_1,pfscan_TIR_dom,pfscan_Ig-like	p.E439K	ENST00000378993.1	37	c.1315	CCDS14218.1	X	.	.	.	.	.	.	.	.	.	.	G	35	5.538496	0.96474	.	.	ENSG00000169306	ENST00000378993;ENST00000302196	T;T	0.09723	2.95;2.95	5.81	5.81	0.92471	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.000000	0.85682	D	0.000000	T	0.44767	0.1309	M	0.91818	3.245	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.54330	-0.8310	9	.	.	.	.	19.0725	0.93145	0.0:0.0:1.0:0.0	.	439	Q9NZN1	IRPL1_HUMAN	K	439	ENSP00000368278:E439K;ENSP00000305200:E439K	.	E	+	1	0	IL1RAPL1	29882673	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.453000	0.82957	0.594000	0.82650	GAA	IL1RAPL1	-	pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,prints_IL1_rcpt_1,pfscan_TIR_dom	ENSG00000169306		0.373	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1RAPL1	HGNC	protein_coding	OTTHUMT00000056155.1	76	0.00	0	G	NM_014271		29972752	29972752	+1	no_errors	ENST00000302196	ensembl	human	known	69_37n	missense	55	24.32	18	SNP	1.000	A
IL1RAPL1	11141	genome.wustl.edu	37	X	29973317	29973317	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:29973317G>A	ENST00000378993.1	+	11	2144	c.1471G>A	c.(1471-1473)Gag>Aag	p.E491K	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.E491K	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	491	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						GAGCATCTTTGAGCTGGAAAC	0.413																																						dbGAP											0													98.0	89.0	92.0					X																	29973317		2202	4300	6502	-	-	-	SO:0001583	missense	0			AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.1471G>A	X.37:g.29973317G>A	ENSP00000368278:p.Glu491Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVG4|Q9UJ53	Missense_Mutation	SNP	pfam_TIR_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_TIR_dom,smart_Ig_sub,smart_Ig_sub2,smart_TIR_dom,prints_IL1_rcpt_1,pfscan_TIR_dom,pfscan_Ig-like	p.E491K	ENST00000378993.1	37	c.1471	CCDS14218.1	X	.	.	.	.	.	.	.	.	.	.	G	18.39	3.613328	0.66672	.	.	ENSG00000169306	ENST00000378993;ENST00000302196	T;T	0.20332	2.08;2.08	5.87	5.87	0.94306	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.000000	0.85682	D	0.000000	T	0.51635	0.1686	M	0.89353	3.025	0.80722	D	1	D	0.57257	0.979	P	0.59288	0.855	T	0.58769	-0.7578	9	.	.	.	.	19.184	0.93635	0.0:0.0:1.0:0.0	.	491	Q9NZN1	IRPL1_HUMAN	K	491	ENSP00000368278:E491K;ENSP00000305200:E491K	.	E	+	1	0	IL1RAPL1	29883238	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.481000	0.83766	0.600000	0.82982	GAG	IL1RAPL1	-	pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,prints_IL1_rcpt_1,pfscan_TIR_dom	ENSG00000169306		0.413	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1RAPL1	HGNC	protein_coding	OTTHUMT00000056155.1	52	0.00	0	G	NM_014271		29973317	29973317	+1	no_errors	ENST00000302196	ensembl	human	known	69_37n	missense	40	41.18	28	SNP	1.000	A
IL23A	51561	genome.wustl.edu	37	12	56732974	56732974	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:56732974C>T	ENST00000228534.4	+	1	312	c.146C>T	c.(145-147)cCa>cTa	p.P49L	STAT2_ENST00000556539.1_5'Flank	NM_016584.2	NP_057668.1	Q9NPF7	IL23A_HUMAN	interleukin 23, alpha subunit p19	49					defense response to Gram-negative bacterium (GO:0050829)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of NK T cell proliferation (GO:0051142)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|T cell proliferation (GO:0042098)|tissue remodeling (GO:0048771)	interleukin-23 complex (GO:0070743)				kidney(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	5						AGTGCACATCCACTAGTGGGA	0.612																																						dbGAP											0													35.0	33.0	34.0					12																	56732974		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB030000	CCDS8916.1	12q13.13	2011-07-15				ENSG00000110944		"""Interleukins and interleukin receptors"""	15488	protein-coding gene	gene with protein product	"""interleukin-six, G-CSF related factor"""	605580				11114383	Standard	NM_016584		Approved	SGRF, IL23P19, IL-23, IL-23A, P19	uc001sla.3	Q9NPF7		ENST00000228534.4:c.146C>T	12.37:g.56732974C>T	ENSP00000228534:p.Pro49Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NZ80|Q6NZ82|Q9H2A5	Missense_Mutation	SNP	pfam_IL6_MGF_GCSF,superfamily_4_helix_cytokine-like_core	p.P49L	ENST00000228534.4	37	c.146	CCDS8916.1	12	.	.	.	.	.	.	.	.	.	.	C	8.091	0.774461	0.16051	.	.	ENSG00000110944	ENST00000228534	T	0.32272	1.46	5.05	4.1	0.47936	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.517370	0.17602	N	0.168377	T	0.20618	0.0496	L	0.27053	0.805	0.09310	N	0.999999	B	0.14012	0.009	B	0.09377	0.004	T	0.15321	-1.0441	10	0.25106	T	0.35	0.2095	10.4947	0.44770	0.0:0.8952:0.0:0.1048	.	49	Q9NPF7	IL23A_HUMAN	L	49	ENSP00000228534:P49L	ENSP00000228534:P49L	P	+	2	0	IL23A	55019241	0.000000	0.05858	0.002000	0.10522	0.805000	0.45488	0.617000	0.24359	1.166000	0.42689	0.650000	0.86243	CCA	IL23A	-	superfamily_4_helix_cytokine-like_core	ENSG00000110944		0.612	IL23A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	IL23A	HGNC	protein_coding		16	0.00	0	C	NM_016584		56732974	56732974	+1	no_errors	ENST00000228534	ensembl	human	known	69_37n	missense	14	39.13	9	SNP	0.005	T
IL24	11009	genome.wustl.edu	37	1	207074898	207074898	+	Missense_Mutation	SNP	C	C	G	rs74615523		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:207074898C>G	ENST00000294984.2	+	5	637	c.363C>G	c.(361-363)ttC>ttG	p.F121L	IL24_ENST00000491169.1_3'UTR|IL24_ENST00000391929.3_Missense_Mutation_p.F122L|IL24_ENST00000367093.3_Intron	NM_001185156.1|NM_006850.3	NP_001172085.1|NP_006841.1	Q13007	IL24_HUMAN	interleukin 24	121					apoptotic process (GO:0006915)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|serine phosphorylation of STAT3 protein (GO:0033136)|wound healing (GO:0042060)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12	Breast(84;0.201)					AAACTGTTTTCAAAAACTACC	0.488																																						dbGAP											0													120.0	110.0	113.0					1																	207074898		2203	4300	6503	-	-	-	SO:0001583	missense	0			U16261	CCDS1471.1, CCDS53465.1, CCDS53466.1, CCDS73021.1	1q32	2011-07-15		2001-06-29	ENSG00000162892	ENSG00000162892		"""Interleukins and interleukin receptors"""	11346	protein-coding gene	gene with protein product	"""melanoma differentiation association protein 7"", ""suppression of tumorigenicity 16 (melanoma differentiation)"", ""IL-4-induced secreted protein"""	604136		ST16		8545104, 8799171	Standard	NM_001185156		Approved	mda-7, IL10B, Mob-5, C49A, FISP, IL-24	uc001heu.2	Q13007	OTTHUMG00000036459	ENST00000294984.2:c.363C>G	1.37:g.207074898C>G	ENSP00000294984:p.Phe121Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2YHE5|Q53XZ7|Q5YLN8|Q96DB0|Q96KG4	Missense_Mutation	SNP	superfamily_4_helix_cytokine-like_core,prints_Interleukin-24	p.F121L	ENST00000294984.2	37	c.363	CCDS1471.1	1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.648959	0.67358	.	.	ENSG00000162892	ENST00000391929;ENST00000294984	T;T	0.14766	2.48;2.48	4.52	3.61	0.41365	Interleukin-10, conserved site (1);Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.000000	0.85682	D	0.000000	T	0.30792	0.0776	M	0.71206	2.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.02553	-1.1142	10	0.30854	T	0.27	.	8.3913	0.32531	0.0:0.8945:0.0:0.1055	.	122;121	Q53XZ7;Q13007	.;IL24_HUMAN	L	122;121	ENSP00000375795:F122L;ENSP00000294984:F121L	ENSP00000294984:F121L	F	+	3	2	IL24	205141521	0.971000	0.33674	0.998000	0.56505	0.815000	0.46073	0.516000	0.22817	1.142000	0.42291	0.555000	0.69702	TTC	IL24	-	superfamily_4_helix_cytokine-like_core	ENSG00000162892		0.488	IL24-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IL24	HGNC	protein_coding	OTTHUMT00000088680.2	110	0.00	0	C	NM_006850		207074898	207074898	+1	no_errors	ENST00000294984	ensembl	human	known	69_37n	missense	122	16.44	24	SNP	0.999	G
IL25	64806	genome.wustl.edu	37	14	23842573	23842573	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:23842573C>T	ENST00000329715.2	+	1	504	c.246C>T	c.(244-246)ctC>ctT	p.L82L	IL25_ENST00000397242.2_Silent_p.L66L	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN	interleukin 25	82					eosinophil differentiation (GO:0030222)|inflammatory response to antigenic stimulus (GO:0002437)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to fungus (GO:0009620)|response to nematode (GO:0009624)	extracellular space (GO:0005615)	interleukin-17E receptor binding (GO:0030380)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		ATGGACCCCTCAACAGCAGGG	0.637																																						dbGAP											0													49.0	46.0	47.0					14																	23842573		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF305200	CCDS9597.1, CCDS45086.1	14q11.2	2008-01-07	2006-05-17	2006-05-17	ENSG00000166090	ENSG00000166090		"""Interleukins and interleukin receptors"""	13765	protein-coding gene	gene with protein product		605658	"""interleukin 17E"""	IL17E		11058597, 11754819	Standard	NM_172314		Approved	IL-25, IL-17E	uc001wjq.3	Q9H293	OTTHUMG00000028749	ENST00000329715.2:c.246C>T	14.37:g.23842573C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M3F0|Q8IZV3|Q8WXB0	Silent	SNP	pfam_Interleukin-17	p.L82	ENST00000329715.2	37	c.246	CCDS9597.1	14																																																																																			IL25	-	pfam_Interleukin-17	ENSG00000166090		0.637	IL25-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL25	HGNC	protein_coding	OTTHUMT00000071789.2	33	0.00	0	C			23842573	23842573	+1	no_errors	ENST00000329715	ensembl	human	known	69_37n	silent	29	29.27	12	SNP	1.000	T
IL31RA	133396	genome.wustl.edu	37	5	55209369	55209369	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:55209369G>A	ENST00000447346.2	+	13	1772	c.1707G>A	c.(1705-1707)ctG>ctA	p.L569L	IL31RA_ENST00000396834.1_Silent_p.L550L|IL31RA_ENST00000490985.1_Silent_p.L427L|IL31RA_ENST00000359040.5_Silent_p.L569L|IL31RA_ENST00000354961.4_Silent_p.L550L	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	537					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|homeostatic process (GO:0042592)|JAK-STAT cascade (GO:0007259)|macrophage differentiation (GO:0030225)|MAPK cascade (GO:0000165)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of macrophage activation (GO:0043031)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				TCATTATCCTGACAGTGGCAT	0.408																																						dbGAP											0													138.0	131.0	133.0					5																	55209369		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY499339	CCDS3970.2, CCDS56365.1, CCDS56366.1, CCDS56367.1, CCDS75244.1, CCDS75245.1	5q11.2	2013-02-11			ENSG00000164509	ENSG00000164509		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	18969	protein-coding gene	gene with protein product		609510				15184896, 11877449	Standard	NM_139017		Approved	CRL3, GLM-R, CRL, Glmr, IL-31RA	uc003jql.3	Q8NI17	OTTHUMG00000097045	ENST00000447346.2:c.1707G>A	5.37:g.55209369G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NIF8|Q2TBA1|Q6EBC3|Q6EBC4|Q6EBC5|Q6EBC6|Q6UWL8|Q8WYJ0	Silent	SNP	pfam_Fibronectin_type3,pfam_IL6_recept-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.L569	ENST00000447346.2	37	c.1707	CCDS3970.2	5																																																																																			IL31RA	-	NULL	ENSG00000164509		0.408	IL31RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL31RA	HGNC	protein_coding	OTTHUMT00000214148.1	164	0.00	0	G	NM_139017		55209369	55209369	+1	no_errors	ENST00000447346	ensembl	human	known	69_37n	silent	133	18.90	31	SNP	0.010	A
IL34	146433	genome.wustl.edu	37	16	70694004	70694004	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:70694004C>T	ENST00000288098.2	+	6	1026	c.643C>T	c.(643-645)Ccg>Tcg	p.P215S	IL34_ENST00000429149.2_Missense_Mutation_p.P215S|IL34_ENST00000566361.1_Missense_Mutation_p.P190S|FLJ00418_ENST00000597002.1_5'Flank	NM_001172772.1	NP_001166243.1	Q6ZMJ4	IL34_HUMAN	interleukin 34	215					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein phosphorylation (GO:0001934)	extracellular space (GO:0005615)	macrophage colony-stimulating factor receptor binding (GO:0005157)			breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						GCTGTACCCTCCGCCCCCGTG	0.662																																						dbGAP											0													67.0	76.0	73.0					16																	70694004		2198	4300	6498	-	-	-	SO:0001583	missense	0			BC029804	CCDS10895.1	16q22.1	2008-08-01	2008-06-04	2008-06-04	ENSG00000157368	ENSG00000157368		"""Interleukins and interleukin receptors"""	28529	protein-coding gene	gene with protein product		612081	"""chromosome 16 open reading frame 77"""	C16orf77		18467591	Standard	NM_152456		Approved	MGC34647, IL-34	uc002ezh.2	Q6ZMJ4	OTTHUMG00000137581	ENST00000288098.2:c.643C>T	16.37:g.70694004C>T	ENSP00000288098:p.Pro215Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RC28|B2Z4A8|B2ZC70|Q8N6L2	Missense_Mutation	SNP	prints_Interleukin-34	p.P215S	ENST00000288098.2	37	c.643	CCDS10895.1	16	.	.	.	.	.	.	.	.	.	.	C	16.07	3.018412	0.54576	.	.	ENSG00000157368	ENST00000429149;ENST00000288098	T;T	0.29917	1.55;1.55	4.8	-1.39	0.08997	.	2.023690	0.02399	N	0.080436	T	0.18341	0.0440	N	0.25647	0.755	0.09310	N	1	B;B	0.17268	0.021;0.021	B;B	0.10450	0.005;0.005	T	0.10567	-1.0624	10	0.09338	T	0.73	-0.8308	4.2761	0.10809	0.0:0.3715:0.3228:0.3058	.	214;215	Q6ZMJ4-2;Q6ZMJ4	.;IL34_HUMAN	S	215	ENSP00000397863:P215S;ENSP00000288098:P215S	ENSP00000288098:P215S	P	+	1	0	IL34	69251505	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.331000	0.07914	0.074000	0.16767	0.455000	0.32223	CCG	IL34	-	NULL	ENSG00000157368		0.662	IL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL34	HGNC	protein_coding	OTTHUMT00000268971.3	18	0.00	0	C	NM_152456		70694004	70694004	+1	no_errors	ENST00000288098	ensembl	human	known	69_37n	missense	28	28.21	11	SNP	0.000	T
IL36RN	26525	genome.wustl.edu	37	2	113817024	113817024	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:113817024G>C	ENST00000393200.2	+	2	170	c.9G>C	c.(7-9)ctG>ctC	p.L3L	IL36RN_ENST00000346807.3_Silent_p.L3L	NM_012275.2	NP_036407.1	Q9UBH0	I36RA_HUMAN	interleukin 36 receptor antagonist	3					antifungal humoral response (GO:0019732)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of interferon-gamma secretion (GO:1902714)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)	extracellular space (GO:0005615)	interleukin-1 receptor antagonist activity (GO:0005152)			large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						AGATGGTCCTGAGTGGGGCGC	0.552																																						dbGAP											0													129.0	114.0	119.0					2																	113817024		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF201830	CCDS2111.1	2q14	2014-09-17	2011-06-06	2011-06-06	ENSG00000136695	ENSG00000136695		"""Interleukins and interleukin receptors"""	15561	protein-coding gene	gene with protein product	"""family of interleukin 1-delta"", ""interleukin-1 receptor antagonist homolog 1"", ""interleukin-1 HY1"", ""IL-1 related protein 3"""	605507	"""interleukin 1 family, member 5 (delta)"""	IL1F5		10625660, 10512743, 11574262	Standard	NM_012275		Approved	FIL1, FIL1(DELTA), FIL1D, IL1HY1, IL1RP3, IL1L1, IL-1F5, IL36RA, MGC29840	uc002tit.3	Q9UBH0	OTTHUMG00000131337	ENST00000393200.2:c.9G>C	2.37:g.113817024G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2I4|Q56AT9|Q7RTZ6	Silent	SNP	pfam_Interleukin_1,superfamily_Cytokine_IL1-like,smart_Interleukin_1,prints_IL_rcpt_IL1RA,prints_Interleukin_1,prints_InterleukinIL1AB	p.L3	ENST00000393200.2	37	c.9	CCDS2111.1	2																																																																																			IL36RN	-	superfamily_Cytokine_IL1-like	ENSG00000136695		0.552	IL36RN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IL36RN	HGNC	protein_coding	OTTHUMT00000330729.1	163	0.61	1	G	NM_173170		113817024	113817024	+1	no_errors	ENST00000346807	ensembl	human	known	69_37n	silent	110	37.50	66	SNP	0.999	C
IL5RA	3568	genome.wustl.edu	37	3	3139598	3139598	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:3139598G>C	ENST00000446632.2	-	7	1239	c.665C>G	c.(664-666)tCt>tGt	p.S222C	IL5RA_ENST00000256452.3_Missense_Mutation_p.S222C|IL5RA_ENST00000383846.1_Missense_Mutation_p.S222C|IL5RA_ENST00000311981.8_Missense_Mutation_p.S222C|IL5RA_ENST00000456302.1_Missense_Mutation_p.S222C|IL5RA_ENST00000438560.1_Missense_Mutation_p.S222C|IL5RA_ENST00000430514.2_Missense_Mutation_p.S222C|IL5RA_ENST00000418488.2_Missense_Mutation_p.S222C|IL5RA_ENST00000445864.2_Intron	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	222					cell proliferation (GO:0008283)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-5-mediated signaling pathway (GO:0038043)|regulation of interleukin-5 production (GO:0032674)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-5 receptor activity (GO:0004914)			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		CCTGATAGCAGAGTGCTTGCT	0.507																																					GBM(169;430 2801 24955 28528)	dbGAP											0													96.0	88.0	91.0					3																	3139598		2203	4300	6503	-	-	-	SO:0001583	missense	0			M96652	CCDS2559.1, CCDS2560.1, CCDS46739.1, CCDS58813.1	3p26-p24	2008-01-11			ENSG00000091181	ENSG00000091181		"""Interleukins and interleukin receptors"", ""CD molecules"""	6017	protein-coding gene	gene with protein product		147851		IL5R		1732409	Standard	NM_175727		Approved	CDw125, CD125	uc010hbs.3	Q01344	OTTHUMG00000090245	ENST00000446632.2:c.665C>G	3.37:g.3139598G>C	ENSP00000412209:p.Ser222Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3IU77|B4E2G0|Q14633|Q15469|Q6ISX9	Missense_Mutation	SNP	pfam_IL6_recept-bd,superfamily_Fibronectin_type3	p.S222C	ENST00000446632.2	37	c.665	CCDS2559.1	3	.	.	.	.	.	.	.	.	.	.	G	10.32	1.316954	0.23908	.	.	ENSG00000091181	ENST00000446632;ENST00000438560;ENST00000256452;ENST00000418488;ENST00000383846;ENST00000311981;ENST00000430514;ENST00000456302	D;D;D;D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75	5.91	1.57	0.23409	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (1);	0.817238	0.11141	N	0.595262	T	0.74412	0.3713	N	0.19112	0.55	0.09310	N	1	P;B;B;P;P	0.50943	0.94;0.086;0.107;0.53;0.897	P;B;B;B;B	0.47864	0.559;0.01;0.014;0.44;0.44	T	0.63466	-0.6631	10	0.54805	T	0.06	-6.255	7.2007	0.25879	0.2383:0.129:0.6327:0.0	.	222;222;222;222;222	B4E2G0;Q01344-3;Q01344-2;Q01344;E7ERY4	.;.;.;IL5RA_HUMAN;.	C	222	ENSP00000412209:S222C;ENSP00000390753:S222C;ENSP00000256452:S222C;ENSP00000388858:S222C;ENSP00000373358:S222C;ENSP00000309196:S222C;ENSP00000400400:S222C;ENSP00000392059:S222C	ENSP00000256452:S222C	S	-	2	0	IL5RA	3114598	0.017000	0.18338	0.000000	0.03702	0.000000	0.00434	2.015000	0.40961	0.393000	0.25203	-0.176000	0.13171	TCT	IL5RA	-	pfam_IL6_recept-bd,superfamily_Fibronectin_type3	ENSG00000091181		0.507	IL5RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL5RA	HGNC	protein_coding	OTTHUMT00000337537.2	87	0.00	0	G			3139598	3139598	-1	no_errors	ENST00000256452	ensembl	human	known	69_37n	missense	45	47.67	41	SNP	0.000	C
IL6R	3570	genome.wustl.edu	37	1	154401671	154401671	+	Splice_Site	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:154401671G>C	ENST00000368485.3	+	2	522		c.e2-1		IL6R_ENST00000344086.4_Splice_Site	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor						acute-phase response (GO:0006953)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|endocrine pancreas development (GO:0031018)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatic immune response (GO:0002384)|interleukin-6-mediated signaling pathway (GO:0070102)|monocyte chemotaxis (GO:0002548)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of interleukin-8 production (GO:0032717)|neutrophil mediated immunity (GO:0002446)|positive regulation of activation of Janus kinase activity (GO:0010536)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|response to cytokine (GO:0034097)	apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-6 receptor complex (GO:0005896)|plasma membrane (GO:0005886)	ciliary neurotrophic factor binding (GO:0070119)|cytokine receptor activity (GO:0004896)|enzyme binding (GO:0019899)|interleukin-6 binding (GO:0019981)|protein homodimerization activity (GO:0042803)		IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)		Tocilizumab(DB06273)	CCCTCCTCCAGAGGTGGCGAG	0.592																																						dbGAP											0													67.0	69.0	69.0					1																	154401671		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			X12830	CCDS1067.1, CCDS1068.1, CCDS72927.1	1q21	2013-01-11			ENSG00000160712	ENSG00000160712		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6019	protein-coding gene	gene with protein product		147880					Standard	NM_000565		Approved	CD126	uc001fez.2	P08887	OTTHUMG00000036073	ENST00000368485.3:c.86-1G>C	1.37:g.154401671G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAE8|B2R6V4|Q16202|Q53EQ7|Q5FWG2|Q5VZ23	Splice_Site	SNP	-	e2-1	ENST00000368485.3	37	c.86-1	CCDS1067.1	1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.396416	0.42512	.	.	ENSG00000160712	ENST00000368485;ENST00000344086;ENST00000512471	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3353	0.60515	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IL6R	152668295	0.998000	0.40836	0.914000	0.36105	0.137000	0.21094	4.777000	0.62361	2.514000	0.84764	0.561000	0.74099	.	IL6R	-	-	ENSG00000160712		0.592	IL6R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL6R	HGNC	protein_coding	OTTHUMT00000087911.1	47	0.00	0	G	NM_000565	Intron	154401671	154401671	+1	no_errors	ENST00000368485	ensembl	human	known	69_37n	splice_site	52	18.75	12	SNP	0.980	C
IL9R	3581	genome.wustl.edu	37	X	155237196	155237196	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:155237196G>C	ENST00000244174.5	+	8	1075	c.896G>C	c.(895-897)aGa>aCa	p.R299T	IL9R_ENST00000494962.1_3'UTR|IL9R_ENST00000540897.1_Intron|IL9R_ENST00000369423.2_Intron|IL9R_ENST00000424344.3_Missense_Mutation_p.R278T	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	299					cell proliferation (GO:0008283)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	interleukin-9 receptor activity (GO:0004919)			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AGGGTGAAGAGAATCTTCTAC	0.567																																						dbGAP											0													9.0	16.0	14.0					X																	155237196		1709	3901	5610	-	-	-	SO:0001583	missense	0			M84747	CCDS14771.4, CCDS59180.1	Xq28 and Yq12	2008-02-05			ENSG00000124334	ENSG00000124334		"""Pseudoautosomal regions / PAR2"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6030	protein-coding gene	gene with protein product		300007				1376929, 8666384	Standard	NM_002186		Approved	CD129	uc004fnv.1	Q01113	OTTHUMG00000022720	ENST00000244174.5:c.896G>C	X.37:g.155237196G>C	ENSP00000244174:p.Arg299Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B9ZVT0|Q14634|Q8WWU1|Q96TF0	Missense_Mutation	SNP	superfamily_Fibronectin_type3	p.R299T	ENST00000244174.5	37	c.896	CCDS14771.4	X	.	.	.	.	.	.	.	.	.	.	g	6.640	0.486614	0.12641	.	.	ENSG00000124334	ENST00000244174;ENST00000424344;ENST00000455739	T;T	0.10382	2.88;2.88	1.71	1.71	0.24356	.	0.861213	0.09885	N	0.743138	T	0.08088	0.0202	.	.	.	0.09310	N	1	B;B	0.32350	0.11;0.366	B;B	0.32211	0.018;0.142	T	0.32613	-0.9900	9	0.46703	T	0.11	-27.5434	6.3775	0.21515	0.0:0.0:1.0:0.0	.	278;299	F5H3Z0;Q01113	.;IL9R_HUMAN	T	299;278;278	ENSP00000244174:R299T;ENSP00000388918:R278T	ENSP00000244174:R299T	R	+	2	0	IL9R	154890390	0.264000	0.24093	0.530000	0.27963	0.025000	0.11179	0.106000	0.15354	1.166000	0.42689	0.287000	0.19450	AGA	IL9R	-	NULL	ENSG00000124334		0.567	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IL9R	HGNC	protein_coding	OTTHUMT00000058981.1	68	0.00	0	G	NM_002186		155237196	155237196	+1	no_errors	ENST00000244174	ensembl	human	known	69_37n	missense	72	19.10	17	SNP	0.522	C
ILK	3611	genome.wustl.edu	37	11	6631396	6631396	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:6631396G>A	ENST00000396751.2	+	11	1552	c.1096G>A	c.(1096-1098)Gaa>Aaa	p.E366K	ILK_ENST00000537806.1_Missense_Mutation_p.E232K|RP11-732A19.2_ENST00000527398.1_RNA|TAF10_ENST00000531760.1_5'Flank|ILK_ENST00000528995.1_Missense_Mutation_p.E305K|ILK_ENST00000526711.1_3'UTR|ILK_ENST00000420936.2_Missense_Mutation_p.E366K|ILK_ENST00000299421.4_Missense_Mutation_p.E366K	NM_001014795.1	NP_001014795.1	Q13418	ILK_HUMAN	integrin-linked kinase	366	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell junction assembly (GO:0034329)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|extracellular fibril organization (GO:0043206)|fibroblast migration (GO:0010761)|integrin-mediated signaling pathway (GO:0007229)|myelin assembly (GO:0032288)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|peptidyl-serine phosphorylation (GO:0018105)|platelet aggregation (GO:0070527)|positive regulation of axon extension (GO:0045773)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)		GAAGAAGCCTGAAGACACAAA	0.537																																						dbGAP											0													89.0	91.0	90.0					11																	6631396		2201	4296	6497	-	-	-	SO:0001583	missense	0			U40282	CCDS7768.1, CCDS60712.1, CCDS60713.1	11p15.4	2014-09-17			ENSG00000166333	ENSG00000166333		"""Ankyrin repeat domain containing"""	6040	protein-coding gene	gene with protein product		602366				8538749	Standard	NM_004517		Approved		uc001mef.3	Q13418	OTTHUMG00000133407	ENST00000396751.2:c.1096G>A	11.37:g.6631396G>A	ENSP00000379975:p.Glu366Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z1I0|B7Z418|D3DQU0|P57043|Q68DZ3	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ankyrin_rpt,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Integrin-linked_kinase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom	p.E366K	ENST00000396751.2	37	c.1096	CCDS7768.1	11	.	.	.	.	.	.	.	.	.	.	G	14.10	2.433449	0.43224	.	.	ENSG00000166333	ENST00000299421;ENST00000537806;ENST00000420936;ENST00000528995;ENST00000396751	D;D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45;-2.45	5.1	5.1	0.69264	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.85915	0.5808	L	0.47016	1.485	0.80722	D	1	B;B	0.23316	0.083;0.083	B;B	0.19148	0.024;0.024	T	0.81360	-0.0968	10	0.33940	T	0.23	.	18.0496	0.89343	0.0:0.0:1.0:0.0	.	305;366	B7Z418;Q13418	.;ILK_HUMAN	K	366;232;366;305;366	ENSP00000299421:E366K;ENSP00000439606:E232K;ENSP00000403487:E366K;ENSP00000435323:E305K;ENSP00000379975:E366K	ENSP00000299421:E366K	E	+	1	0	ILK	6587972	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.822000	0.92013	2.811000	0.96726	0.557000	0.71058	GAA	ILK	-	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,pirsf_Integrin-linked_kinase,pfscan_Prot_kinase_cat_dom	ENSG00000166333		0.537	ILK-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ILK	HGNC	protein_coding	OTTHUMT00000384519.1	63	0.00	0	G	NM_004517		6631396	6631396	+1	no_errors	ENST00000299421	ensembl	human	known	69_37n	missense	89	19.09	21	SNP	1.000	A
ILKAP	80895	genome.wustl.edu	37	2	239103487	239103487	+	Missense_Mutation	SNP	A	A	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:239103487A>C	ENST00000254654.3	-	2	255	c.80T>G	c.(79-81)cTg>cGg	p.L27R	ILKAP_ENST00000490837.1_5'UTR	NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated serine/threonine phosphatase	27					protein dephosphorylation (GO:0006470)|regulation of nuclear cell cycle DNA replication (GO:0033262)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		ATCAAAGAGCAGGGGTCCTTT	0.488																																						dbGAP											0													112.0	108.0	109.0					2																	239103487		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY024365	CCDS2526.1	2q37.3	2012-04-17	2010-10-25		ENSG00000132323	ENSG00000132323	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	15566	protein-coding gene	gene with protein product			"""integrin-linked kinase-associated serine/threonine phosphatase 2C"""				Standard	NM_030768		Approved	DKFZP434J2031, FLJ10181	uc002vxv.3	Q9H0C8	OTTHUMG00000133334	ENST00000254654.3:c.80T>G	2.37:g.239103487A>C	ENSP00000254654:p.Leu27Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KM39	Missense_Mutation	SNP	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	p.L27R	ENST00000254654.3	37	c.80	CCDS2526.1	2	.	.	.	.	.	.	.	.	.	.	A	14.80	2.644604	0.47258	.	.	ENSG00000132323	ENST00000254654;ENST00000457149	T;T	0.49720	1.83;0.77	5.83	5.83	0.93111	.	0.637019	0.14591	N	0.310246	T	0.35537	0.0935	N	0.14661	0.345	0.30481	N	0.772373	P	0.37864	0.61	B	0.40534	0.332	T	0.30851	-0.9964	10	0.26408	T	0.33	-11.1248	13.7178	0.62708	1.0:0.0:0.0:0.0	.	27	Q9H0C8	ILKAP_HUMAN	R	27	ENSP00000254654:L27R;ENSP00000395301:L27R	ENSP00000254654:L27R	L	-	2	0	ILKAP	238768226	0.983000	0.35010	0.723000	0.30687	0.998000	0.95712	5.102000	0.64572	2.228000	0.72767	0.528000	0.53228	CTG	ILKAP	-	NULL	ENSG00000132323		0.488	ILKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ILKAP	HGNC	protein_coding	OTTHUMT00000257163.2	51	0.00	0	A	NM_030768		239103487	239103487	-1	no_errors	ENST00000254654	ensembl	human	known	69_37n	missense	47	36.49	27	SNP	0.906	C
IMPA1	3612	genome.wustl.edu	37	8	82598035	82598035	+	Intron	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:82598035C>G	ENST00000256108.5	-	1	442				IMPA1_ENST00000449740.2_Missense_Mutation_p.G39A|IMPA1_ENST00000311489.4_Intron|IMPA1_ENST00000523710.1_Intron	NM_005536.3	NP_005527.1	P29218	IMPA1_HUMAN	inositol(myo)-1(or 4)-monophosphatase 1						inositol biosynthetic process (GO:0006021)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|inositol monophosphate 1-phosphatase activity (GO:0008934)|inositol monophosphate 3-phosphatase activity (GO:0052832)|inositol monophosphate 4-phosphatase activity (GO:0052833)|inositol monophosphate phosphatase activity (GO:0052834)|lithium ion binding (GO:0031403)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|stomach(1)	18					Lithium(DB01356)	TGAACTGTTTCCTGCTGTTTC	0.483																																						dbGAP											0													85.0	71.0	75.0					8																	82598035		692	1591	2283	-	-	-	SO:0001627	intron_variant	0				CCDS6231.1, CCDS47883.1, CCDS47884.1	8q21.1-q21.3	2008-01-28			ENSG00000133731	ENSG00000133731	3.1.3.25		6050	protein-coding gene	gene with protein product		602064		IMPA		1377913	Standard	NM_005536		Approved		uc011lfq.1	P29218	OTTHUMG00000164682	ENST00000256108.5:c.23+451G>C	8.37:g.82598035C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R733|B4DLN3|B7Z6Q4|J3KQT7|Q9UK71	Missense_Mutation	SNP	pfam_Inositol_monophosphatase,prints_Inositol_monoPase_Li-sen,prints_Inositol_monophosphatase	p.G39A	ENST00000256108.5	37	c.116	CCDS6231.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.16|10.16	1.274758|1.274758	0.23307|0.23307	.|.	.|.	ENSG00000133731|ENSG00000133731	ENST00000449740;ENST00000522997|ENST00000523942	T;T|.	0.38401|.	1.23;1.14|.	2.48|2.48	-1.31|-1.31	0.09230|0.09230	.|.	.|.	.|.	.|.	.|.	T|T	0.18467|0.18467	0.0443|0.0443	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	B|.	0.18741|.	0.03|.	B|.	0.21917|.	0.037|.	T|T	0.29518|0.29518	-1.0009|-1.0009	9|5	0.17832|.	T|.	0.49|.	.|.	5.9294|5.9294	0.19130|0.19130	0.0:0.5221:0.0:0.4779|0.0:0.5221:0.0:0.4779	.|.	39|.	B7Z6Q4|.	.|.	A|S	39|11	ENSP00000408526:G39A;ENSP00000430081:G39A|.	ENSP00000408526:G39A|.	G|R	-|-	2|3	0|2	IMPA1|IMPA1	82760590|82760590	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.068000|0.068000	0.16541|0.16541	-0.608000|-0.608000	0.05641|0.05641	-0.294000|-0.294000	0.08973|0.08973	0.543000|0.543000	0.68304|0.68304	GGA|AGG	IMPA1	-	NULL	ENSG00000133731		0.483	IMPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPA1	HGNC	protein_coding	OTTHUMT00000379723.1	86	0.00	0	C			82598035	82598035	-1	no_errors	ENST00000449740	ensembl	human	known	69_37n	missense	105	17.32	22	SNP	0.000	G
IMPG1	3617	genome.wustl.edu	37	6	76640746	76640746	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:76640746C>G	ENST00000369950.3	-	15	2356	c.2167G>C	c.(2167-2169)Gac>Cac	p.D723H	IMPG1_ENST00000369963.3_3'UTR|Y_RNA_ENST00000363170.1_RNA	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1											breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TCCAGACCGTCCAGGCTCCCC	0.587																																					Pancreas(37;839 1141 2599 26037)	dbGAP											0													122.0	103.0	110.0					6																	76640746		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.2167G>C	6.37:g.76640746C>G	ENSP00000358966:p.Asp723His	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.D723H	ENST00000369950.3	37	c.2167	CCDS4985.1	6	.	.	.	.	.	.	.	.	.	.	C	14.34	2.506061	0.44558	.	.	ENSG00000112706	ENST00000369950;ENST00000369952	T;T	0.20332	2.08;2.16	5.05	1.84	0.25277	.	0.508000	0.17653	N	0.166604	T	0.05960	0.0155	L	0.34521	1.04	0.21105	N	0.999785	P	0.51240	0.943	P	0.44990	0.466	T	0.17319	-1.0373	10	0.48119	T	0.1	.	2.4177	0.04440	0.3135:0.4511:0.1306:0.1048	.	723	Q17R60	IMPG1_HUMAN	H	723;84	ENSP00000358966:D723H;ENSP00000358968:D84H	ENSP00000358966:D723H	D	-	1	0	IMPG1	76697466	0.481000	0.25941	0.001000	0.08648	0.003000	0.03518	2.165000	0.42396	0.518000	0.28383	0.461000	0.40582	GAC	IMPG1	-	NULL	ENSG00000112706		0.587	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPG1	HGNC	protein_coding	OTTHUMT00000041288.1	67	0.00	0	C	NM_001563		76640746	76640746	-1	no_errors	ENST00000369950	ensembl	human	known	69_37n	missense	47	29.85	20	SNP	0.044	G
INADL	10207	genome.wustl.edu	37	1	62253532	62253532	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:62253532C>A	ENST00000371158.2	+	8	1070	c.956C>A	c.(955-957)tCa>tAa	p.S319*	INADL_ENST00000316485.6_Nonsense_Mutation_p.S319*	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	319	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TGTGGGAATTCAGTCAGGATG	0.537																																						dbGAP											0													108.0	91.0	97.0					1																	62253532		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.956C>A	1.37:g.62253532C>A	ENSP00000360200:p.Ser319*	Somatic		WXS	Illumina GAIIx	Phase_IV	O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Nonsense_Mutation	SNP	pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_L27,smart_PDZ,pfscan_L27,pfscan_PDZ	p.S319*	ENST00000371158.2	37	c.956	CCDS617.2	1	.	.	.	.	.	.	.	.	.	.	C	38	6.649646	0.97734	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000255202	.	.	.	5.07	3.06	0.35304	.	0.322713	0.26112	N	0.026267	.	.	.	.	.	.	0.28661	N	0.906154	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.2933	0.31971	0.0:0.7009:0.1356:0.1635	.	.	.	.	X	319	.	ENSP00000255202:S319X	S	+	2	0	INADL	62026120	0.454000	0.25728	0.993000	0.49108	0.954000	0.61252	0.852000	0.27764	1.370000	0.46153	0.467000	0.42956	TCA	INADL	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000132849		0.537	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INADL	HGNC	protein_coding	OTTHUMT00000023639.2	50	0.00	0	C	NM_170605		62253532	62253532	+1	no_errors	ENST00000371158	ensembl	human	known	69_37n	nonsense	32	15.79	6	SNP	0.265	A
ING1	3621	genome.wustl.edu	37	13	111367939	111367939	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr13:111367939G>T	ENST00000375774.3	+	1	611	c.149G>T	c.(148-150)gGa>gTa	p.G50V	ING1_ENST00000333219.7_Intron|CARS2_ENST00000535398.1_5'Flank|ING1_ENST00000464141.1_Intron|ING1_ENST00000338450.7_Intron|ING1_ENST00000375775.3_Intron	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	50					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell death (GO:0010941)	nucleus (GO:0005634)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GTGGAGGGTGGACGAGTTGAT	0.602																																						dbGAP											0													108.0	104.0	105.0					13																	111367939		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9515.1, CCDS9516.1, CCDS9517.1, CCDS9518.1	13q34	2013-01-28			ENSG00000153487	ENSG00000153487		"""Zinc fingers, PHD-type"""	6062	protein-coding gene	gene with protein product	"""inhibitor of growth 1"", ""tumor suppressor ING1"", ""growth inhibitor ING1"", ""growth inhibitory protein ING1"""	601566				8944021, 9186514	Standard	NM_198219		Approved	p33ING1, p33ING1b, p24ING1c, p33, p47, p47ING1a	uc001vri.3	Q9UK53	OTTHUMG00000017346	ENST00000375774.3:c.149G>T	13.37:g.111367939G>T	ENSP00000364929:p.Gly50Val	Somatic		WXS	Illumina GAIIx	Phase_IV	O00532|O43658|Q53ZR3|Q5T9G8|Q5T9G9|Q5T9H0|Q5T9H1|Q9H007|Q9HD98|Q9HD99|Q9NS83|Q9P0U6|Q9UBC6|Q9UIJ1|Q9UIJ2|Q9UIJ3|Q9UIJ4|Q9UK52	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.G50V	ENST00000375774.3	37	c.149	CCDS9517.1	13	.	.	.	.	.	.	.	.	.	.	G	7.674	0.687645	0.14973	.	.	ENSG00000153487	ENST00000375774	T	0.58210	0.35	4.22	2.43	0.29744	.	.	.	.	.	T	0.39627	0.1085	N	0.08118	0	0.33026	D	0.52953	D	0.58620	0.983	P	0.53401	0.725	T	0.51513	-0.8696	9	0.87932	D	0	-1.3531	5.6267	0.17487	0.1105:0.2007:0.6888:0.0	.	50	Q9UK53	ING1_HUMAN	V	50	ENSP00000364929:G50V	ENSP00000364929:G50V	G	+	2	0	ING1	110165940	0.997000	0.39634	0.952000	0.39060	0.688000	0.40055	2.115000	0.41921	0.426000	0.26116	0.549000	0.68633	GGA	ING1	-	NULL	ENSG00000153487		0.602	ING1-004	KNOWN	basic|CCDS	protein_coding	ING1	HGNC	protein_coding	OTTHUMT00000045770.2	101	0.00	0	G	NM_005537		111367939	111367939	+1	no_errors	ENST00000375774	ensembl	human	known	69_37n	missense	48	51.52	51	SNP	0.916	T
INMT	11185	genome.wustl.edu	37	7	30795236	30795236	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:30795236C>G	ENST00000013222.5	+	3	577	c.561C>G	c.(559-561)ctC>ctG	p.L187L	INMT_ENST00000409539.1_Silent_p.L186L|INMT_ENST00000484180.1_3'UTR|INMT-FAM188B_ENST00000458257.1_Intron	NM_001199219.1|NM_006774.4	NP_001186148.1|NP_006765.4	O95050	INMT_HUMAN	indolethylamine N-methyltransferase	187					amine metabolic process (GO:0009308)|methylation (GO:0032259)|response to toxic substance (GO:0009636)	cytosol (GO:0005829)	amine N-methyltransferase activity (GO:0030748)|thioether S-methyltransferase activity (GO:0004790)			kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						CCTCACTGCTCAAGCCGGGTG	0.627																																						dbGAP											0													116.0	98.0	104.0					7																	30795236		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS5430.1, CCDS56479.1	7p14.3	2011-08-30			ENSG00000241644	ENSG00000241644	2.1.1.49		6069	protein-coding gene	gene with protein product		604854				10552930	Standard	NM_001199219		Approved		uc003tbs.1	O95050	OTTHUMG00000167163	ENST00000013222.5:c.561C>G	7.37:g.30795236C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B8ZZ69|Q3KP49|Q9P1Y2|Q9UBY4|Q9UHQ0	Silent	SNP	pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans	p.L187	ENST00000013222.5	37	c.561	CCDS5430.1	7																																																																																			INMT	-	pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans	ENSG00000241644		0.627	INMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INMT	HGNC	protein_coding	OTTHUMT00000214993.3	64	0.00	0	C	NM_006774		30795236	30795236	+1	no_errors	ENST00000013222	ensembl	human	known	69_37n	silent	59	18.06	13	SNP	0.985	G
INO80D	54891	genome.wustl.edu	37	2	206921045	206921045	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:206921045C>A	ENST00000403263.1	-	4	1245	c.841G>T	c.(841-843)Gac>Tac	p.D281Y		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	281					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						AGGATCCGGTCAGTCCTGGGT	0.552																																						dbGAP											0													104.0	115.0	112.0					2																	206921045		2034	4175	6209	-	-	-	SO:0001583	missense	0				CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"""INO80 complex subunits"""	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.841G>T	2.37:g.206921045C>A	ENSP00000384198:p.Asp281Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Missense_Mutation	SNP	NULL	p.D281Y	ENST00000403263.1	37	c.841	CCDS46500.1	2	.	.	.	.	.	.	.	.	.	.	C	11.61	1.691364	0.30052	.	.	ENSG00000114933	ENST00000403263;ENST00000233270;ENST00000424117	T;T	0.31247	1.5;1.5	5.74	4.83	0.62350	.	0.305040	0.36972	N	0.002306	T	0.29817	0.0745	N	0.24115	0.695	0.45318	D	0.998319	P	0.47191	0.891	P	0.48141	0.568	T	0.08554	-1.0716	10	0.72032	D	0.01	.	13.9225	0.63940	0.0:0.9242:0.0:0.0758	.	281	Q53TQ3-2	.	Y	281;281;176	ENSP00000384198:D281Y;ENSP00000402369:D176Y	ENSP00000233270:D281Y	D	-	1	0	INO80D	206629290	1.000000	0.71417	1.000000	0.80357	0.623000	0.37688	3.158000	0.50723	1.364000	0.46038	0.585000	0.79938	GAC	INO80D	-	NULL	ENSG00000114933		0.552	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INO80D	HGNC	protein_coding	OTTHUMT00000336459.1	124	0.00	0	C	NM_017759		206921045	206921045	-1	no_errors	ENST00000403263	ensembl	human	known	69_37n	missense	120	18.92	28	SNP	1.000	A
INSC	387755	genome.wustl.edu	37	11	15170775	15170775	+	Splice_Site	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:15170775C>T	ENST00000379554.3	+	2	242	c.196C>T	c.(196-198)Cgg>Tgg	p.R66W	INSC_ENST00000528567.1_Splice_Site_p.R19W|INSC_ENST00000379556.3_Splice_Site_p.R19W|INSC_ENST00000424273.1_Splice_Site_p.R19W|INSC_ENST00000530161.1_Splice_Site_p.R19W|INSC_ENST00000525218.1_Splice_Site_p.R19W	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	66					establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						GCCGGGTCAGCGGTAAGTCCT	0.622																																						dbGAP											0													41.0	40.0	40.0					11																	15170775		2200	4294	6494	-	-	-	SO:0001630	splice_region_variant	0			AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"""inscuteable spindle orientation adaptor protein"""	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.197+1C>T	11.37:g.15170775C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Missense_Mutation	SNP	superfamily_ARM-type_fold,smart_Armadillo	p.R66W	ENST00000379554.3	37	c.196	CCDS41621.1	11	.	.	.	.	.	.	.	.	.	.	C	17.57	3.422831	0.62733	.	.	ENSG00000188487	ENST00000379554;ENST00000379556;ENST00000424273;ENST00000416761;ENST00000528567;ENST00000530161;ENST00000525218	T;T;T;T;T;T	0.39229	1.09;1.15;1.16;1.09;1.15;1.16	4.99	1.82	0.25136	.	0.000000	0.64402	D	0.000001	T	0.47469	0.1447	L	0.40543	1.245	0.44409	D	0.997323	D;D;D;D	0.89917	1.0;0.997;0.998;0.998	D;P;P;P	0.67231	0.95;0.656;0.802;0.903	T	0.42682	-0.9437	10	0.72032	D	0.01	-25.0311	6.6918	0.23177	0.3547:0.4628:0.1825:0.0	.	19;19;19;66	Q1MX18-5;Q1MX18-4;A0PJX5;Q1MX18	.;.;.;INSC_HUMAN	W	66;19;19;19;19;19;19	ENSP00000368872:R66W;ENSP00000368874:R19W;ENSP00000389161:R19W;ENSP00000435022:R19W;ENSP00000436194:R19W;ENSP00000436113:R19W	ENSP00000368872:R66W	R	+	1	2	INSC	15127351	1.000000	0.71417	0.998000	0.56505	0.822000	0.46500	1.273000	0.33121	0.637000	0.30526	0.561000	0.74099	CGG	INSC	-	NULL	ENSG00000188487		0.622	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INSC	HGNC	protein_coding	OTTHUMT00000386590.1	30	0.00	0	C	NM_001031853	Missense_Mutation	15170775	15170775	+1	no_errors	ENST00000379554	ensembl	human	known	69_37n	missense	33	25.00	11	SNP	0.999	T
INPPL1	3636	genome.wustl.edu	37	11	71949089	71949089	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:71949089C>A	ENST00000298229.2	+	27	3760	c.3556C>A	c.(3556-3558)Ccg>Acg	p.P1186T	PHOX2A_ENST00000544057.1_5'Flank|INPPL1_ENST00000541756.1_Missense_Mutation_p.P944T|INPPL1_ENST00000538751.1_Missense_Mutation_p.P944T	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	1186					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TCCTTAGGCTCCGTGCCTGCA	0.652											OREG0021191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													15.0	17.0	17.0					11																	71949089		2197	4291	6488	-	-	-	SO:0001583	missense	0			Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"""Sterile alpha motif (SAM) domain containing"", ""SH2 domain containing"""	6080	protein-coding gene	gene with protein product	"""51C protein"""	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.3556C>A	11.37:g.71949089C>A	ENSP00000298229:p.Pro1186Thr	Somatic	1133	WXS	Illumina GAIIx	Phase_IV	B2RTX5|Q13577|Q13578	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,pfam_SH2,pfam_SAM_2,pfam_SAM_type1,superfamily_Endo/exonuclease/phosphatase,superfamily_SAM/pointed,smart_SH2,smart_IPPc,smart_SAM,pfscan_SAM,pfscan_SH2,prints_SH2	p.P1186T	ENST00000298229.2	37	c.3556	CCDS8213.1	11	.	.	.	.	.	.	.	.	.	.	c	8.795	0.931473	0.18131	.	.	ENSG00000165458	ENST00000298229;ENST00000541756;ENST00000538751	D;D;D	0.96200	-2.8;-3.94;-3.94	4.69	3.74	0.42951	.	0.230563	0.31784	N	0.007080	D	0.88187	0.6369	N	0.14661	0.345	0.34030	D	0.653767	B	0.19331	0.035	B	0.17433	0.018	D	0.85604	0.1254	10	0.54805	T	0.06	.	5.5598	0.17137	0.1939:0.6954:0.0:0.1107	.	1186	O15357	SHIP2_HUMAN	T	1186;944;944	ENSP00000298229:P1186T;ENSP00000446360:P944T;ENSP00000444619:P944T	ENSP00000298229:P1186T	P	+	1	0	INPPL1	71626737	0.005000	0.15991	0.974000	0.42286	0.449000	0.32228	0.694000	0.25512	1.127000	0.42034	0.591000	0.81541	CCG	INPPL1	-	NULL	ENSG00000165458		0.652	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPPL1	HGNC	protein_coding	OTTHUMT00000396789.1	18	0.00	0	C	NM_001567		71949089	71949089	+1	no_errors	ENST00000298229	ensembl	human	known	69_37n	missense	22	18.52	5	SNP	0.967	A
INSR	3643	genome.wustl.edu	37	19	7120638	7120638	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:7120638C>G	ENST00000302850.5	-	20	3794	c.3652G>C	c.(3652-3654)Gac>Cac	p.D1218H	INSR_ENST00000341500.5_Missense_Mutation_p.D1206H	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	1218	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	CACCACATGTCAGAAGAAGTG	0.572																																						dbGAP											0													119.0	100.0	106.0					19																	7120638		2203	4300	6503	-	-	-	SO:0001583	missense	0			M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.3652G>C	19.37:g.7120638C>G	ENSP00000303830:p.Asp1218His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom	p.D1218H	ENST00000302850.5	37	c.3652	CCDS12176.1	19	.	.	.	.	.	.	.	.	.	.	C	22.2	4.260692	0.80246	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	D;D	0.98550	-4.99;-4.99	4.41	4.41	0.53225	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.44483	U	0.000444	D	0.99456	0.9807	H	0.99525	4.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97804	1.0246	10	0.87932	D	0	.	14.8438	0.70246	0.0:1.0:0.0:0.0	.	1206;1218	P06213-2;P06213	.;INSR_HUMAN	H	1218;1206	ENSP00000303830:D1218H;ENSP00000342838:D1206H	ENSP00000303830:D1218H	D	-	1	0	INSR	7071638	1.000000	0.71417	0.952000	0.39060	0.886000	0.51366	7.446000	0.80609	2.166000	0.68216	0.455000	0.32223	GAC	INSR	-	pirsf_Tyr_kinase_insulin-like_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	ENSG00000171105		0.572	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INSR	HGNC	protein_coding	OTTHUMT00000458544.1	52	0.00	0	C			7120638	7120638	-1	no_errors	ENST00000302850	ensembl	human	known	69_37n	missense	42	26.32	15	SNP	1.000	G
INSR	3643	genome.wustl.edu	37	19	7120734	7120734	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:7120734C>G	ENST00000302850.5	-	20	3698	c.3556G>C	c.(3556-3558)Gaa>Caa	p.E1186Q	INSR_ENST00000341500.5_Missense_Mutation_p.E1174Q	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	1186	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	TAATCCGTTTCATAGATGTCT	0.527																																						dbGAP											0													138.0	110.0	120.0					19																	7120734		2203	4300	6503	-	-	-	SO:0001583	missense	0			M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.3556G>C	19.37:g.7120734C>G	ENSP00000303830:p.Glu1186Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom	p.E1186Q	ENST00000302850.5	37	c.3556	CCDS12176.1	19	.	.	.	.	.	.	.	.	.	.	C	26.9	4.785879	0.90282	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	D;D	0.82984	-1.67;-1.67	4.52	4.52	0.55395	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Tyrosine-protein kinase, receptor class II, conserved site (1);Protein kinase, catalytic domain (1);	0.000000	0.43110	U	0.000615	D	0.85691	0.5755	L	0.28458	0.855	0.80722	D	1	D;D	0.69078	0.994;0.997	D;D	0.72338	0.936;0.977	D	0.87734	0.2581	10	0.87932	D	0	.	15.1657	0.72821	0.0:1.0:0.0:0.0	.	1174;1186	P06213-2;P06213	.;INSR_HUMAN	Q	1186;1174	ENSP00000303830:E1186Q;ENSP00000342838:E1174Q	ENSP00000303830:E1186Q	E	-	1	0	INSR	7071734	1.000000	0.71417	0.992000	0.48379	0.987000	0.75469	7.446000	0.80609	2.241000	0.73720	0.449000	0.29647	GAA	INSR	-	pirsf_Tyr_kinase_insulin-like_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,pfscan_Prot_kinase_cat_dom	ENSG00000171105		0.527	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INSR	HGNC	protein_coding	OTTHUMT00000458544.1	48	0.00	0	C			7120734	7120734	-1	no_errors	ENST00000302850	ensembl	human	known	69_37n	missense	46	14.81	8	SNP	1.000	G
INTS1	26173	genome.wustl.edu	37	7	1533499	1533499	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:1533499C>T	ENST00000404767.3	-	15	2044	c.1959G>A	c.(1957-1959)ctG>ctA	p.L653L	INTS1_ENST00000389470.4_Silent_p.L781L	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	653					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GGATGCGCATCAGCGTGTCCT	0.682																																						dbGAP											0													18.0	26.0	23.0					7																	1533499		2041	4175	6216	-	-	-	SO:0001819	synonymous_variant	0			AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.1959G>A	7.37:g.1533499C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Silent	SNP	pfam_DUF3677,superfamily_ARM-type_fold	p.L781	ENST00000404767.3	37	c.2343	CCDS47526.1	7																																																																																			INTS1	-	NULL	ENSG00000164880		0.682	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS1	HGNC	protein_coding	OTTHUMT00000323683.1	16	0.00	0	C			1533499	1533499	-1	no_errors	ENST00000389470	ensembl	human	known	69_37n	silent	9	43.75	7	SNP	0.993	T
INTS1	26173	genome.wustl.edu	37	7	1536831	1536831	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:1536831G>T	ENST00000404767.3	-	11	1630	c.1545C>A	c.(1543-1545)ttC>ttA	p.F515L	INTS1_ENST00000493531.1_5'Flank|INTS1_ENST00000389470.4_Missense_Mutation_p.F643L	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	515					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GCCCCAGGCAGAAGGCCTGGA	0.642																																						dbGAP											0													38.0	42.0	41.0					7																	1536831		2037	4193	6230	-	-	-	SO:0001583	missense	0			AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.1545C>A	7.37:g.1536831G>T	ENSP00000385722:p.Phe515Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	pfam_DUF3677,superfamily_ARM-type_fold	p.F643L	ENST00000404767.3	37	c.1929	CCDS47526.1	7	.	.	.	.	.	.	.	.	.	.	G	16.48	3.134140	0.56828	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.47869	0.83;0.84	5.29	3.06	0.35304	.	0.000000	0.85682	D	0.000000	T	0.34106	0.0886	L	0.38175	1.15	0.58432	D	0.999999	B	0.16166	0.016	B	0.16289	0.015	T	0.13629	-1.0502	10	0.36615	T	0.2	.	8.2928	0.31967	0.1495:0.1397:0.7107:0.0	.	515	Q8N201	INT1_HUMAN	L	515;643	ENSP00000385722:F515L;ENSP00000374121:F643L	ENSP00000374121:F643L	F	-	3	2	INTS1	1503357	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.672000	0.46850	1.186000	0.42985	0.655000	0.94253	TTC	INTS1	-	NULL	ENSG00000164880		0.642	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS1	HGNC	protein_coding	OTTHUMT00000323683.1	30	0.00	0	G			1536831	1536831	-1	no_errors	ENST00000389470	ensembl	human	known	69_37n	missense	34	27.66	13	SNP	1.000	T
INTS6	26512	genome.wustl.edu	37	13	51956203	51956203	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr13:51956203C>G	ENST00000311234.4	-	10	1709	c.1237G>C	c.(1237-1239)Gaa>Caa	p.E413Q	INTS6_ENST00000463928.1_Intron|INTS6_ENST00000490542.1_Missense_Mutation_p.E97Q|INTS6_ENST00000398119.2_Missense_Mutation_p.E400Q|INTS6_ENST00000497989.1_Missense_Mutation_p.E235Q|INTS6_ENST00000425000.1_Intron	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	413					signal transduction (GO:0007165)|snRNA processing (GO:0016180)	actin cytoskeleton (GO:0015629)|integrator complex (GO:0032039)|nucleus (GO:0005634)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		AAATAACTTTCAAATGACTGT	0.373																																						dbGAP											0													74.0	69.0	71.0					13																	51956203		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF097645	CCDS9428.1, CCDS41890.1, CCDS45048.1	13q14.3	2010-08-20	2006-03-15	2006-03-15	ENSG00000102786	ENSG00000102786		"""DEAD-boxes"""	14879	protein-coding gene	gene with protein product		604331	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26"""	DDX26		10467397, 16239144	Standard	XM_005266340		Approved	DICE1, HDB, Notchl2, DBI-1, DDX26A, INT6	uc001vfk.3	Q9UL03	OTTHUMG00000016945	ENST00000311234.4:c.1237G>C	13.37:g.51956203C>G	ENSP00000310260:p.Glu413Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0P664|Q6PJP4|Q9UFK0|Q9Y5M9	Missense_Mutation	SNP	pfam_VWF_A,pfscan_VWF_A	p.E413Q	ENST00000311234.4	37	c.1237	CCDS9428.1	13	.	.	.	.	.	.	.	.	.	.	C	16.58	3.161958	0.57368	.	.	ENSG00000102786	ENST00000311234;ENST00000398119;ENST00000497989;ENST00000490542;ENST00000483746	T;T;T;T;T	0.35236	1.32;1.32;1.32;1.32;1.32	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.42765	0.1217	L	0.28504	0.86	0.80722	D	1	D	0.56968	0.978	P	0.56916	0.809	T	0.05683	-1.0870	10	0.15952	T	0.53	-19.2047	18.9458	0.92621	0.0:1.0:0.0:0.0	.	413	Q9UL03	INT6_HUMAN	Q	413;400;235;97;132	ENSP00000310260:E413Q;ENSP00000381187:E400Q;ENSP00000419871:E235Q;ENSP00000419984:E97Q;ENSP00000418026:E132Q	ENSP00000310260:E413Q	E	-	1	0	INTS6	50854204	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.805000	0.86005	2.720000	0.93068	0.557000	0.71058	GAA	INTS6	-	NULL	ENSG00000102786		0.373	INTS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS6	HGNC	protein_coding	OTTHUMT00000045023.1	72	0.00	0	C	NM_012141		51956203	51956203	-1	no_errors	ENST00000311234	ensembl	human	known	69_37n	missense	35	42.62	26	SNP	1.000	G
INVS	27130	genome.wustl.edu	37	9	103059203	103059203	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:103059203C>T	ENST00000262457.2	+	15	2976	c.2791C>T	c.(2791-2793)Cag>Tag	p.Q931*	INVS_ENST00000262456.2_Nonsense_Mutation_p.Q761*|INVS_ENST00000541287.1_Nonsense_Mutation_p.Q835*	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	931	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.				embryonic heart tube left/right pattern formation (GO:0060971)|kidney development (GO:0001822)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|pancreas development (GO:0031016)|post-embryonic development (GO:0009791)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				AACCAGCTACCAGCTCAGGAA	0.483																																						dbGAP											0													60.0	54.0	56.0					9																	103059203		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF039217	CCDS6746.1, CCDS6747.1	9q31	2013-01-10	2003-08-11		ENSG00000119509	ENSG00000119509		"""Ankyrin repeat domain containing"""	17870	protein-coding gene	gene with protein product	"""nephrocystin 2"""	243305	"""nephronophthisis 2 (infantile)"""	NPHP2		12872123	Standard	NM_014425		Approved		uc004bap.2	Q9Y283	OTTHUMG00000020364	ENST00000262457.2:c.2791C>T	9.37:g.103059203C>T	ENSP00000262457:p.Gln931*	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2Y2|Q2NKL0|Q5W0T6|Q8IVX8|Q9BRB9|Q9Y488|Q9Y498	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_IQ_motif_EF-hand-BS,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Ankyrin_rpt	p.Q931*	ENST00000262457.2	37	c.2791	CCDS6746.1	9	.	.	.	.	.	.	.	.	.	.	C	40	7.971010	0.98588	.	.	ENSG00000119509	ENST00000262457;ENST00000541287;ENST00000262456	.	.	.	5.37	4.48	0.54585	.	1.066410	0.07159	N	0.850433	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	.	13.4122	0.60948	0.1573:0.8427:0.0:0.0	.	.	.	.	X	931;835;761	.	ENSP00000262456:Q761X	Q	+	1	0	INVS	102099024	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.001000	0.49488	1.383000	0.46405	-0.133000	0.14855	CAG	INVS	-	pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	ENSG00000119509		0.483	INVS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	INVS	HGNC	protein_coding	OTTHUMT00000053407.1	57	0.00	0	C	NM_014425		103059203	103059203	+1	no_errors	ENST00000262457	ensembl	human	known	69_37n	nonsense	82	18.00	18	SNP	1.000	T
IPO13	9670	genome.wustl.edu	37	1	44413313	44413313	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:44413313G>A	ENST00000372343.3	+	1	703	c.41G>A	c.(40-42)gGa>gAa	p.G14E	RP11-7O11.3_ENST00000446167.1_RNA|RP11-7O11.3_ENST00000445226.1_RNA|RP11-7O11.3_ENST00000412378.1_RNA	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	14					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				GCAGGGGCTGGAGCAGCACCA	0.652																																						dbGAP											0													38.0	37.0	37.0					1																	44413313		1714	3184	4898	-	-	-	SO:0001583	missense	0			AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"""Importins"""	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.41G>A	1.37:g.44413313G>A	ENSP00000361418:p.Gly14Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Missense_Mutation	SNP	pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.G14E	ENST00000372343.3	37	c.41	CCDS503.1	1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.759755	0.49468	.	.	ENSG00000117408	ENST00000372343	.	.	.	4.55	3.63	0.41609	.	0.412949	0.26013	N	0.026869	T	0.36026	0.0952	N	0.14661	0.345	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22452	-1.0216	9	0.41790	T	0.15	-4.2415	7.8289	0.29332	0.1108:0.0:0.8892:0.0	.	14	O94829	IPO13_HUMAN	E	14	.	ENSP00000361418:G14E	G	+	2	0	IPO13	44185900	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.184000	0.32053	2.523000	0.85059	0.563000	0.77884	GGA	IPO13	-	NULL	ENSG00000117408		0.652	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO13	HGNC	protein_coding	OTTHUMT00000022846.1	31	0.00	0	G	NM_014652		44413313	44413313	+1	no_errors	ENST00000372343	ensembl	human	known	69_37n	missense	15	28.57	6	SNP	1.000	A
IPO13	9670	genome.wustl.edu	37	1	44415664	44415664	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:44415664G>C	ENST00000372343.3	+	2	1322	c.660G>C	c.(658-660)caG>caC	p.Q220H		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	220					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				GTGTGCGTCAGAAGGTGCTCA	0.637																																						dbGAP											0													20.0	19.0	19.0					1																	44415664		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"""Importins"""	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.660G>C	1.37:g.44415664G>C	ENSP00000361418:p.Gln220His	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Missense_Mutation	SNP	pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.Q220H	ENST00000372343.3	37	c.660	CCDS503.1	1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.882518	0.51908	.	.	ENSG00000117408	ENST00000372343	T	0.43688	0.94	5.36	5.36	0.76844	Exportin-1/Importin-beta-like (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.106321	0.64402	D	0.000003	T	0.46870	0.1415	L	0.40543	1.245	0.80722	D	1	P	0.44627	0.839	P	0.48227	0.571	T	0.37430	-0.9706	10	0.45353	T	0.12	-12.9744	19.0724	0.93145	0.0:0.0:1.0:0.0	.	220	O94829	IPO13_HUMAN	H	220	ENSP00000361418:Q220H	ENSP00000361418:Q220H	Q	+	3	2	IPO13	44188251	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.344000	0.65981	2.525000	0.85131	0.491000	0.48974	CAG	IPO13	-	pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold	ENSG00000117408		0.637	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO13	HGNC	protein_coding	OTTHUMT00000022846.1	14	0.00	0	G	NM_014652		44415664	44415664	+1	no_errors	ENST00000372343	ensembl	human	known	69_37n	missense	14	36.36	8	SNP	1.000	C
IPO13	9670	genome.wustl.edu	37	1	44423181	44423181	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:44423181C>T	ENST00000372343.3	+	7	2162	c.1500C>T	c.(1498-1500)atC>atT	p.I500I	IPO13_ENST00000492152.1_3'UTR	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	500					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				GGATCAGCATCAGCAACGTGC	0.562																																						dbGAP											0													164.0	132.0	143.0					1																	44423181		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"""Importins"""	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.1500C>T	1.37:g.44423181C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Silent	SNP	pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.I500	ENST00000372343.3	37	c.1500	CCDS503.1	1																																																																																			IPO13	-	superfamily_ARM-type_fold	ENSG00000117408		0.562	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO13	HGNC	protein_coding	OTTHUMT00000022846.1	47	0.00	0	C	NM_014652		44423181	44423181	+1	no_errors	ENST00000372343	ensembl	human	known	69_37n	silent	51	28.17	20	SNP	1.000	T
IQCD	115811	genome.wustl.edu	37	12	113645561	113645561	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:113645561C>G	ENST00000416617.2	-	2	601	c.411G>C	c.(409-411)caG>caC	p.Q137H	IQCD_ENST00000299732.2_Missense_Mutation_p.Q137H|IQCD_ENST00000546692.1_Missense_Mutation_p.Q137H			Q96DY2	IQCD_HUMAN	IQ motif containing D	137										endometrium(2)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						GGCTGGATTTCTGCAGCTCTA	0.537																																						dbGAP											0													107.0	101.0	103.0					12																	113645561		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC013151	CCDS9167.1	12q24.21	2014-07-18				ENSG00000166578			25168	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 10"""					23427265, 24804578	Standard	NM_138451		Approved	DRC10, CFAP84	uc001tuu.3	Q96DY2		ENST00000416617.2:c.411G>C	12.37:g.113645561C>G	ENSP00000400669:p.Gln137His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZSU0	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.Q137H	ENST00000416617.2	37	c.411		12	.	.	.	.	.	.	.	.	.	.	C	10.93	1.490974	0.26774	.	.	ENSG00000166578	ENST00000299732;ENST00000416617;ENST00000546692;ENST00000392574	T;T;T	0.10099	2.91;2.91;2.91	4.72	1.77	0.24775	.	0.398453	0.23633	N	0.046115	T	0.07683	0.0193	L	0.42245	1.32	0.09310	N	1	B;B	0.23990	0.095;0.011	B;B	0.21360	0.034;0.011	T	0.23619	-1.0183	10	0.30078	T	0.28	-20.4754	4.4019	0.11390	0.1243:0.4436:0.3376:0.0944	.	137;137	F8VZV9;Q96DY2-2	.;.	H	137	ENSP00000299732:Q137H;ENSP00000400669:Q137H;ENSP00000446623:Q137H	ENSP00000299732:Q137H	Q	-	3	2	IQCD	112129944	0.746000	0.28272	0.227000	0.23927	0.523000	0.34469	0.941000	0.29005	1.204000	0.43247	0.563000	0.77884	CAG	IQCD	-	NULL	ENSG00000166578		0.537	IQCD-004	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	IQCD	HGNC	protein_coding	OTTHUMT00000405327.1	67	0.00	0	C	NM_138451		113645561	113645561	-1	no_errors	ENST00000416617	ensembl	human	known	69_37n	missense	71	21.98	20	SNP	0.184	G
IQCD	115811	genome.wustl.edu	37	12	113645638	113645638	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:113645638C>G	ENST00000416617.2	-	2	524	c.334G>C	c.(334-336)Gaa>Caa	p.E112Q	IQCD_ENST00000299732.2_Missense_Mutation_p.E112Q|IQCD_ENST00000546692.1_Missense_Mutation_p.E112Q			Q96DY2	IQCD_HUMAN	IQ motif containing D	112										endometrium(2)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						AATTGCCTTTCTTTCTCTTTC	0.542																																						dbGAP											0													105.0	102.0	103.0					12																	113645638		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC013151	CCDS9167.1	12q24.21	2014-07-18				ENSG00000166578			25168	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 10"""					23427265, 24804578	Standard	NM_138451		Approved	DRC10, CFAP84	uc001tuu.3	Q96DY2		ENST00000416617.2:c.334G>C	12.37:g.113645638C>G	ENSP00000400669:p.Glu112Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZSU0	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.E112Q	ENST00000416617.2	37	c.334		12	.	.	.	.	.	.	.	.	.	.	C	8.215	0.801215	0.16397	.	.	ENSG00000166578	ENST00000299732;ENST00000416617;ENST00000546692;ENST00000392574	T;T;T	0.10382	2.88;2.88;2.88	4.25	3.33	0.38152	.	0.586847	0.16655	N	0.205050	T	0.12008	0.0292	L	0.56769	1.78	0.09310	N	1	B;P	0.36392	0.376;0.551	B;B	0.33392	0.163;0.134	T	0.10497	-1.0627	10	0.31617	T	0.26	-9.215	12.9197	0.58224	0.0:0.828:0.172:0.0	.	112;112	F8VZV9;Q96DY2-2	.;.	Q	112	ENSP00000299732:E112Q;ENSP00000400669:E112Q;ENSP00000446623:E112Q	ENSP00000299732:E112Q	E	-	1	0	IQCD	112130021	0.000000	0.05858	0.027000	0.17364	0.096000	0.18686	0.831000	0.27476	1.106000	0.41623	0.462000	0.41574	GAA	IQCD	-	NULL	ENSG00000166578		0.542	IQCD-004	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	IQCD	HGNC	protein_coding	OTTHUMT00000405327.1	82	0.00	0	C	NM_138451		113645638	113645638	-1	no_errors	ENST00000416617	ensembl	human	known	69_37n	missense	79	28.18	31	SNP	0.112	G
IQCE	23288	genome.wustl.edu	37	7	2618127	2618127	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:2618127G>C	ENST00000402050.2	+	8	781	c.597G>C	c.(595-597)cgG>cgC	p.R199R	IQCE_ENST00000438376.2_Silent_p.R183R|IQCE_ENST00000325979.7_Silent_p.R134R|IQCE_ENST00000404984.1_Silent_p.R148R	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	199						mitochondrion (GO:0005739)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		ATTTTGTTCGGACTCTGGCAG	0.597																																						dbGAP											0													101.0	113.0	109.0					7																	2618127		2033	4188	6221	-	-	-	SO:0001819	synonymous_variant	0			AL136792	CCDS43542.1, CCDS47527.1, CCDS47527.2, CCDS75559.1, CCDS75560.1	7p22.3	2006-04-12			ENSG00000106012	ENSG00000106012			29171	protein-coding gene	gene with protein product						10470851	Standard	XR_242067		Approved	KIAA1023	uc003smo.4	Q6IPM2	OTTHUMG00000152047	ENST00000402050.2:c.597G>C	7.37:g.2618127G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G0P7|Q6P7T4|Q9H0H7|Q9UPX7	Silent	SNP	pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.R199	ENST00000402050.2	37	c.597	CCDS43542.1	7																																																																																			IQCE	-	NULL	ENSG00000106012		0.597	IQCE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IQCE	HGNC	protein_coding	OTTHUMT00000325063.2	65	0.00	0	G	NM_152558		2618127	2618127	+1	no_errors	ENST00000402050	ensembl	human	known	69_37n	silent	50	25.37	17	SNP	0.873	C
IQCF2	389123	genome.wustl.edu	37	3	51895685	51895685	+	Start_Codon_SNP	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:51895685G>A	ENST00000333127.3	+	1	32	c.3G>A	c.(1-3)atG>atA	p.M1I	IQCF2_ENST00000429548.1_3'UTR	NM_203424.1	NP_982248.1	Q8IXL9	IQCF2_HUMAN	IQ motif containing F2	1										endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GACAGGCCATGAGGGTTCGAT	0.483																																						dbGAP											0													123.0	108.0	113.0					3																	51895685		2203	4300	6503	-	-	-	SO:0001582	initiator_codon_variant	0			AK128883	CCDS2835.1	3p21.31	2008-02-05			ENSG00000184345	ENSG00000184345			31815	protein-coding gene	gene with protein product							Standard	NM_203424		Approved		uc003dbt.1	Q8IXL9	OTTHUMG00000156914	ENST00000333127.3:c.3G>A	3.37:g.51895685G>A	ENSP00000329904:p.Met1Ile	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.M1I	ENST00000333127.3	37	c.3	CCDS2835.1	3	.	.	.	.	.	.	.	.	.	.	g	19.85	3.903824	0.72754	.	.	ENSG00000184345	ENST00000333127	T	0.28666	1.6	4.37	3.5	0.40072	.	0.108901	0.41938	D	0.000789	T	0.25419	0.0618	.	.	.	0.80722	D	1	P	0.43826	0.818	B	0.39419	0.299	T	0.06267	-1.0836	9	0.87932	D	0	-37.7793	8.538	0.33375	0.1041:0.0:0.8959:0.0	.	1	Q8IXL9	IQCF2_HUMAN	I	1	ENSP00000329904:M1I	ENSP00000329904:M1I	M	+	3	0	IQCF2	51870725	0.992000	0.36948	0.327000	0.25402	0.437000	0.31866	3.593000	0.54001	1.452000	0.47756	0.555000	0.69702	ATG	IQCF2	-	NULL	ENSG00000184345		0.483	IQCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQCF2	HGNC	protein_coding	OTTHUMT00000346594.1	79	0.00	0	G	NM_203424	Missense_Mutation	51895685	51895685	+1	no_errors	ENST00000333127	ensembl	human	known	69_37n	missense	75	22.68	22	SNP	0.350	A
IQCJ-SCHIP1	100505385	genome.wustl.edu	37	3	158991665	158991665	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:158991665C>G	ENST00000337808.6	+	1	633	c.56C>G	c.(55-57)tCt>tGt	p.S19C	IQCJ-SCHIP1_ENST00000527095.1_Missense_Mutation_p.S19C|IQCJ-SCHIP1_ENST00000467442.1_Intron|IQCJ-SCHIP1_ENST00000476809.1_Intron|IQCJ-SCHIP1_ENST00000412423.2_Missense_Mutation_p.S19C|IQCJ-SCHIP1_ENST00000485419.1_Intron	NM_001197107.1|NM_014575.3	NP_001184036.1|NP_055390.1			IQCJ-SCHIP1 readthrough											central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						GGCAAGCACTCTGACAGTGTA	0.413																																						dbGAP											0													127.0	123.0	124.0					3																	158991665		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS56289.1, CCDS56291.1	3q25.33	2011-03-24			ENSG00000250588	ENSG00000250588			38842	other	readthrough							Standard	NM_001197113		Approved		uc003fcq.2		OTTHUMG00000162426	ENST00000337808.6:c.56C>G	3.37:g.158991665C>G	ENSP00000337239:p.Ser19Cys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_SCHIP_1	p.S19C	ENST00000337808.6	37	c.56	CCDS3186.1	3	.	.	.	.	.	.	.	.	.	.	C	11.15	1.552737	0.27739	.	.	ENSG00000250588	ENST00000337808;ENST00000412423;ENST00000527095	T;T;T	0.48522	1.35;1.35;0.81	5.34	5.34	0.76211	.	0.189908	0.26112	N	0.026272	T	0.44787	0.1310	.	.	.	0.80722	D	1	P;P	0.43169	0.8;0.698	B;B	0.39617	0.305;0.161	T	0.51116	-0.8746	9	0.87932	D	0	.	14.9014	0.70681	0.0:1.0:0.0:0.0	.	19;19	Q9P0W5-2;Q9P0W5	.;SCHI1_HUMAN	C	19	ENSP00000337239:S19C;ENSP00000400942:S19C;ENSP00000436076:S19C	ENSP00000337239:S19C	S	+	2	0	IQCJ-SCHIP1	160474359	0.004000	0.15560	0.016000	0.15963	0.905000	0.53344	1.567000	0.36407	2.642000	0.89623	0.650000	0.86243	TCT	IQCJ-SCHIP1	-	NULL	ENSG00000250588		0.413	IQCJ-SCHIP1-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	IQCJ-SCHIP1	HGNC	protein_coding	OTTHUMT00000352557.1	162	0.00	0	C	NM_001197113		158991665	158991665	+1	no_errors	ENST00000337808	ensembl	human	known	69_37n	missense	113	22.60	33	SNP	0.105	G
IQGAP1	8826	genome.wustl.edu	37	15	91026794	91026794	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:91026794G>A	ENST00000268182.5	+	29	3881	c.3757G>A	c.(3757-3759)Gaa>Aaa	p.E1253K	IQGAP1_ENST00000560738.1_Missense_Mutation_p.E681K	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1253	C1.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			CATCATTAATGAATATCTTTC	0.413																																						dbGAP											0													74.0	70.0	72.0					15																	91026794		2198	4298	6496	-	-	-	SO:0001583	missense	0			D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.3757G>A	15.37:g.91026794G>A	ENSP00000268182:p.Glu1253Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MBM3	Missense_Mutation	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_Rsp5_WWP,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,smart_CH-domain,smart_WW_Rsp5_WWP,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP	p.E1253K	ENST00000268182.5	37	c.3757	CCDS10362.1	15	.	.	.	.	.	.	.	.	.	.	G	12.27	1.888575	0.33348	.	.	ENSG00000140575	ENST00000268182	D	0.82167	-1.58	5.34	5.34	0.76211	Rho GTPase activation protein (1);Ras GTPase-activating protein (2);	0.112950	0.64402	D	0.000018	T	0.77205	0.4096	L	0.41710	1.295	0.80722	D	1	B	0.17852	0.024	B	0.15052	0.012	T	0.69928	-0.5012	10	0.15499	T	0.54	-31.2139	18.5696	0.91130	0.0:0.0:1.0:0.0	.	1253	P46940	IQGA1_HUMAN	K	1253	ENSP00000268182:E1253K	ENSP00000268182:E1253K	E	+	1	0	IQGAP1	88827798	1.000000	0.71417	0.885000	0.34714	0.960000	0.62799	7.543000	0.82106	2.937000	0.99478	0.650000	0.86243	GAA	IQGAP1	-	superfamily_Rho_GTPase_activation_prot,smart_RasGAP	ENSG00000140575		0.413	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP1	HGNC	protein_coding	OTTHUMT00000313493.1	76	0.00	0	G	NM_003870		91026794	91026794	+1	no_errors	ENST00000268182	ensembl	human	known	69_37n	missense	57	22.97	17	SNP	1.000	A
IQSEC2	23096	genome.wustl.edu	37	X	53264093	53264093	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:53264093C>G	ENST00000375368.5	-	14	3945	c.3745G>C	c.(3745-3747)Gat>Cat	p.D1249H	IQSEC2_ENST00000396435.3_Missense_Mutation_p.D1259H|IQSEC2_ENST00000375365.2_3'UTR			Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	1249	Pro-rich.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						GACTGCCCATCAGGCAGCACC	0.667																																						dbGAP											0													51.0	41.0	44.0					X																	53264093		692	1591	2283	-	-	-	SO:0001583	missense	0			AB011094	CCDS35298.1, CCDS48130.1	Xp11.23	2014-01-31			ENSG00000124313	ENSG00000124313			29059	protein-coding gene	gene with protein product		300522	"""mental retardation, X-linked 1 (non-dysmorphic)"""	MRX1		9628581, 20473311	Standard	NM_001243197		Approved	KIAA0522	uc004dsd.3	Q5JU85	OTTHUMG00000021608	ENST00000375368.5:c.3745G>C	X.37:g.53264093C>G	ENSP00000364517:p.Asp1249His	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KT97|C7SDG1|O60275|Q5JUX1	Missense_Mutation	SNP	pfam_Sec7,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7	p.D1259H	ENST00000375368.5	37	c.3775		X	.	.	.	.	.	.	.	.	.	.	C	13.13	2.145474	0.37825	.	.	ENSG00000124313	ENST00000396435;ENST00000375368	T;T	0.43294	0.95;0.95	2.57	2.57	0.30868	.	1.304430	0.05924	U	0.633962	T	0.27098	0.0664	N	0.08118	0	0.29141	N	0.878997	P	0.41498	0.752	B	0.38106	0.265	T	0.29731	-1.0002	10	0.45353	T	0.12	.	12.2186	0.54420	0.0:1.0:0.0:0.0	.	1259	Q5JU85-2	.	H	1259;1249	ENSP00000379712:D1259H;ENSP00000364517:D1249H	ENSP00000364517:D1249H	D	-	1	0	IQSEC2	53280818	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	2.202000	0.42743	1.567000	0.49668	0.284000	0.19432	GAT	IQSEC2	-	NULL	ENSG00000124313		0.667	IQSEC2-201	KNOWN	basic	protein_coding	IQSEC2	HGNC	protein_coding		48	0.00	0	C	XM_291345		53264093	53264093	-1	no_errors	ENST00000396435	ensembl	human	known	69_37n	missense	48	18.64	11	SNP	1.000	G
IQSEC2	23096	genome.wustl.edu	37	X	53283759	53283759	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:53283759C>G	ENST00000375368.5	-	3	1524	c.1324G>C	c.(1324-1326)Gag>Cag	p.E442Q	IQSEC2_ENST00000396435.3_Missense_Mutation_p.E452Q|IQSEC2_ENST00000375365.2_Missense_Mutation_p.E247Q			Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	442					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						TTAGAAAACTCTCCAGATGTG	0.572																																						dbGAP											0													51.0	46.0	48.0					X																	53283759		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011094	CCDS35298.1, CCDS48130.1	Xp11.23	2014-01-31			ENSG00000124313	ENSG00000124313			29059	protein-coding gene	gene with protein product		300522	"""mental retardation, X-linked 1 (non-dysmorphic)"""	MRX1		9628581, 20473311	Standard	NM_001243197		Approved	KIAA0522	uc004dsd.3	Q5JU85	OTTHUMG00000021608	ENST00000375368.5:c.1324G>C	X.37:g.53283759C>G	ENSP00000364517:p.Glu442Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KT97|C7SDG1|O60275|Q5JUX1	Missense_Mutation	SNP	pfam_Sec7,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7	p.E452Q	ENST00000375368.5	37	c.1354		X	.	.	.	.	.	.	.	.	.	.	C	17.82	3.483208	0.63962	.	.	ENSG00000124313	ENST00000396435;ENST00000375368;ENST00000375365	T;T;T	0.76186	-1.0;-1.0;-1.0	5.09	5.09	0.68999	.	.	.	.	.	T	0.65863	0.2732	L	0.29908	0.895	0.41839	D	0.990113	P;P	0.46512	0.879;0.718	B;B	0.43783	0.399;0.431	T	0.63829	-0.6548	9	0.17832	T	0.49	.	16.3278	0.82994	0.0:1.0:0.0:0.0	.	452;247	Q5JU85-2;Q5JU85-3	.;.	Q	452;442;247	ENSP00000379712:E452Q;ENSP00000364517:E442Q;ENSP00000364514:E247Q	ENSP00000364514:E247Q	E	-	1	0	IQSEC2	53300484	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.361000	0.79497	2.108000	0.64289	0.513000	0.50165	GAG	IQSEC2	-	NULL	ENSG00000124313		0.572	IQSEC2-201	KNOWN	basic	protein_coding	IQSEC2	HGNC	protein_coding		26	0.00	0	C	XM_291345		53283759	53283759	-1	no_errors	ENST00000396435	ensembl	human	known	69_37n	missense	29	21.62	8	SNP	1.000	G
IQUB	154865	genome.wustl.edu	37	7	123104907	123104907	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:123104907C>T	ENST00000466202.1	-	10	2314	c.1738G>A	c.(1738-1740)Gaa>Aaa	p.E580K	IQUB_ENST00000324698.6_Missense_Mutation_p.E580K|IQUB_ENST00000434450.1_Missense_Mutation_p.E580K	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	580					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TTTGCAACTTCAGGATTAAAC	0.313																																						dbGAP											0													81.0	88.0	86.0					7																	123104907		2203	4298	6501	-	-	-	SO:0001583	missense	0			AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.1738G>A	7.37:g.123104907C>T	ENSP00000417769:p.Glu580Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Missense_Mutation	SNP	pfam_Ubiquitin,pfscan_Ubiquitin_supergroup	p.E580K	ENST00000466202.1	37	c.1738	CCDS5787.1	7	.	.	.	.	.	.	.	.	.	.	C	19.65	3.866521	0.72065	.	.	ENSG00000164675	ENST00000466202;ENST00000324698;ENST00000434450	T;T;T	0.56776	1.61;1.61;0.44	5.32	4.43	0.53597	.	0.142993	0.64402	D	0.000008	T	0.73544	0.3600	M	0.89287	3.02	0.30285	N	0.790962	D;D	0.67145	0.996;0.963	P;P	0.59889	0.865;0.664	T	0.77948	-0.2396	10	0.56958	D	0.05	.	16.1243	0.81382	0.0:0.7487:0.2513:0.0	.	580;580	Q8NA54-2;Q8NA54	.;IQUB_HUMAN	K	580	ENSP00000417769:E580K;ENSP00000324882:E580K;ENSP00000388498:E580K	ENSP00000324882:E580K	E	-	1	0	IQUB	122892143	0.996000	0.38824	1.000000	0.80357	0.850000	0.48378	2.427000	0.44740	1.379000	0.46325	-0.243000	0.11985	GAA	IQUB	-	NULL	ENSG00000164675		0.313	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IQUB	HGNC	protein_coding	OTTHUMT00000348529.1	106	0.00	0	C	NM_178827		123104907	123104907	-1	no_errors	ENST00000324698	ensembl	human	known	69_37n	missense	63	32.26	30	SNP	0.999	T
IRAK1BP1	134728	genome.wustl.edu	37	6	79577322	79577322	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:79577322G>C	ENST00000369940.2	+	1	134	c.29G>C	c.(28-30)cGa>cCa	p.R10P		NM_001010844.2	NP_001010844.1	Q5VVH5	IKBP1_HUMAN	interleukin-1 receptor-associated kinase 1 binding protein 1	10	Intrinsically disordered.				I-kappaB kinase/NF-kappaB signaling (GO:0007249)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(3)	12		all_cancers(76;0.0398)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)		BRCA - Breast invasive adenocarcinoma(397;0.21)		CCTCCGACCCGAGTGTTCGTG	0.637																																						dbGAP											0													83.0	89.0	87.0					6																	79577322		2203	4300	6503	-	-	-	SO:0001583	missense	0			AI478629	CCDS34488.1	6q14-q15	2006-04-12				ENSG00000146243			17368	protein-coding gene	gene with protein product		615375				11096118	Standard	XM_005248654		Approved	AIP70, SIMPL	uc003pim.4	Q5VVH5		ENST00000369940.2:c.29G>C	6.37:g.79577322G>C	ENSP00000358956:p.Arg10Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_DUF541	p.R10P	ENST00000369940.2	37	c.29	CCDS34488.1	6	.	.	.	.	.	.	.	.	.	.	G	18.35	3.605366	0.66445	.	.	ENSG00000146243	ENST00000369940	.	.	.	4.35	4.35	0.52113	.	0.000000	0.64402	D	0.000001	T	0.54431	0.1858	L	0.34521	1.04	0.43617	D	0.995991	D	0.76494	0.999	D	0.85130	0.997	T	0.53704	-0.8401	8	.	.	.	-5.9284	12.2385	0.54528	0.0:0.0:1.0:0.0	.	10	Q5VVH5	IKBP1_HUMAN	P	10	.	.	R	+	2	0	IRAK1BP1	79634041	1.000000	0.71417	0.958000	0.39756	0.577000	0.36160	5.202000	0.65169	2.225000	0.72522	0.561000	0.74099	CGA	IRAK1BP1	-	NULL	ENSG00000146243		0.637	IRAK1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRAK1BP1	HGNC	protein_coding	OTTHUMT00000041296.2	17	0.00	0	G	XM_059729		79577322	79577322	+1	no_errors	ENST00000369940	ensembl	human	known	69_37n	missense	15	28.57	6	SNP	0.987	C
IREB2	3658	genome.wustl.edu	37	15	78789521	78789521	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:78789521G>C	ENST00000258886.8	+	21	2798	c.2649G>C	c.(2647-2649)ttG>ttC	p.L883F		NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	883					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)		AAGATCATTTGATTGGAATTG	0.378																																					NSCLC(200;764 2208 35157 49871 50830)	dbGAP											0													114.0	105.0	108.0					15																	78789521		2196	4293	6489	-	-	-	SO:0001583	missense	0			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.2649G>C	15.37:g.78789521G>C	ENSP00000258886:p.Leu883Phe	Somatic		WXS	Illumina GAIIx	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.L883F	ENST00000258886.8	37	c.2649	CCDS10302.1	15	.	.	.	.	.	.	.	.	.	.	G	20.5	3.994178	0.74703	.	.	ENSG00000136381	ENST00000258886	T	0.35605	1.3	5.87	4.01	0.46588	Aconitase/3-isopropylmalate dehydratase, swivel (2);Aconitase A/isopropylmalate dehydratase small subunit, swivel (1);	0.000000	0.85682	D	0.000000	T	0.68531	0.3011	H	0.96175	3.78	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.74228	-0.3733	10	0.87932	D	0	-13.7279	9.0689	0.36480	0.2744:0.0:0.7256:0.0	.	883	P48200	IREB2_HUMAN	F	883	ENSP00000258886:L883F	ENSP00000258886:L883F	L	+	3	2	IREB2	76576576	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.995000	0.63908	0.953000	0.37825	-0.136000	0.14681	TTG	IREB2	-	pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Aconitase/3IPM_dehydase_swvl,tigrfam_Aconitase/Fe_reg_prot_2	ENSG00000136381		0.378	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IREB2	HGNC	protein_coding	OTTHUMT00000290109.3	111	0.00	0	G	NM_004136		78789521	78789521	+1	no_errors	ENST00000258886	ensembl	human	known	69_37n	missense	84	19.23	20	SNP	1.000	C
IRF3	3661	genome.wustl.edu	37	19	50165237	50165237	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:50165237C>T	ENST00000597198.1	-	6	1331	c.950G>A	c.(949-951)gGa>gAa	p.G317E	IRF3_ENST00000377139.3_Missense_Mutation_p.G317E|IRF3_ENST00000593922.1_Missense_Mutation_p.G171E|IRF3_ENST00000601291.1_Missense_Mutation_p.G317E|IRF3_ENST00000599223.1_Intron|IRF3_ENST00000599144.1_Missense_Mutation_p.G171E|IRF3_ENST00000600911.1_Missense_Mutation_p.G317E|IRF3_ENST00000309877.7_Missense_Mutation_p.G317E|IRF3_ENST00000596765.1_Intron|IRF3_ENST00000599680.1_5'Flank|IRF3_ENST00000596822.1_Intron|IRF3_ENST00000377135.4_Intron|IRF3_ENST00000600022.1_Intron|IRF3_ENST00000598808.1_Missense_Mutation_p.G171E			Q14653	IRF3_HUMAN	interferon regulatory factor 3	317	Involved in HERC5 binding.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dsRNA (GO:0071359)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage apoptotic process (GO:0071888)|MDA-5 signaling pathway (GO:0039530)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of interferon-beta biosynthetic process (GO:0045358)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type I interferon production (GO:0032480)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|programmed necrotic cell death (GO:0097300)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		AAACACGCCTCCTTCCTTGTC	0.607																																						dbGAP											0													122.0	127.0	125.0					19																	50165237		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12775.1, CCDS56099.1, CCDS59407.1, CCDS59408.1, CCDS59409.1	19q13.3-q13.4	2008-07-16				ENSG00000126456			6118	protein-coding gene	gene with protein product		603734				8524823	Standard	NM_001571		Approved		uc002pow.3	Q14653		ENST00000597198.1:c.950G>A	19.37:g.50165237C>T	ENSP00000469113:p.Gly317Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7L2|B2RAZ3|Q5FBY1|Q5FBY2|Q5FBY4|Q7Z5G6	Missense_Mutation	SNP	pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom	p.G317E	ENST00000597198.1	37	c.950	CCDS12775.1	19	.	.	.	.	.	.	.	.	.	.	c	21.2	4.120327	0.77323	.	.	ENSG00000126456	ENST00000377139;ENST00000309877	D;D	0.93859	-3.3;-3.3	4.72	2.46	0.29980	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	0.787717	0.11475	U	0.560297	D	0.93858	0.8035	L	0.54323	1.7	0.09310	N	0.999996	D;D;D;D	0.89917	0.961;1.0;1.0;1.0	P;D;D;D	0.85130	0.693;0.997;0.997;0.982	D	0.84012	0.0349	10	0.08837	T	0.75	-4.9722	7.4013	0.26965	0.192:0.6225:0.1855:0.0	.	317;317;317;317	B2RAZ3;Q96GL3;Q7Z5G6;Q14653	.;.;.;IRF3_HUMAN	E	317	ENSP00000366344:G317E;ENSP00000310127:G317E	ENSP00000310127:G317E	G	-	2	0	IRF3	54857049	0.000000	0.05858	0.002000	0.10522	0.883000	0.51084	0.379000	0.20585	0.535000	0.28714	0.552000	0.68991	GGA	IRF3	-	pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain	ENSG00000126456		0.607	IRF3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IRF3	HGNC	protein_coding	OTTHUMT00000465962.1	45	0.00	0	C	NM_001571		50165237	50165237	-1	no_errors	ENST00000309877	ensembl	human	known	69_37n	missense	27	30.77	12	SNP	0.004	T
IRS1	3667	genome.wustl.edu	37	2	227662668	227662668	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:227662668C>T	ENST00000305123.5	-	1	1807	c.787G>A	c.(787-789)Gag>Aag	p.E263K	IRS1_ENST00000498335.1_5'Flank|RP11-395N3.2_ENST00000607970.1_lincRNA	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	263	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GGGCGGAACTCATCACTCATG	0.642											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													73.0	80.0	78.0					2																	227662668		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.787G>A	2.37:g.227662668C>T	ENSP00000304895:p.Glu263Lys	Somatic	2321	WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,prints_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1	p.E263K	ENST00000305123.5	37	c.787	CCDS2463.1	2	.	.	.	.	.	.	.	.	.	.	C	31	5.083673	0.94050	.	.	ENSG00000169047	ENST00000305123	T	0.68479	-0.33	5.79	5.79	0.91817	Pleckstrin homology-type (1);Insulin receptor substrate-1, PTB (2);	0.000000	0.64402	D	0.000001	T	0.76814	0.4040	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.77073	-0.2723	10	0.59425	D	0.04	-11.6738	20.0212	0.97504	0.0:1.0:0.0:0.0	.	263	P35568	IRS1_HUMAN	K	263	ENSP00000304895:E263K	ENSP00000304895:E263K	E	-	1	0	IRS1	227370912	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	7.818000	0.86416	2.735000	0.93741	0.561000	0.74099	GAG	IRS1	-	prints_Insln_rcpt_S1,pfscan_Insln_rcpt_S1	ENSG00000169047		0.642	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRS1	HGNC	protein_coding	OTTHUMT00000256886.3	48	0.00	0	C	NM_005544		227662668	227662668	-1	no_errors	ENST00000305123	ensembl	human	known	69_37n	missense	49	18.33	11	SNP	1.000	T
ISLR	3671	genome.wustl.edu	37	15	74467697	74467697	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:74467697C>T	ENST00000249842.3	+	2	855	c.498C>T	c.(496-498)ttC>ttT	p.F166F	ISLR_ENST00000395118.1_Silent_p.F166F|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	166					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						AGGGCACCTTCACCCCGCTCA	0.652																																						dbGAP											0													68.0	64.0	65.0					15																	74467697		2198	4297	6495	-	-	-	SO:0001819	synonymous_variant	0			AB003184	CCDS10260.1	15q23-q24	2013-01-11			ENSG00000129009	ENSG00000129009		"""Immunoglobulin superfamily / I-set domain containing"""	6133	protein-coding gene	gene with protein product		602059				9325048	Standard	NM_005545		Approved	HsT17563	uc002axh.1	O14498	OTTHUMG00000137623	ENST00000249842.3:c.498C>T	15.37:g.74467697C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub2,pfscan_Ig-like	p.F166	ENST00000249842.3	37	c.498	CCDS10260.1	15																																																																																			ISLR	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000129009		0.652	ISLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISLR	HGNC	protein_coding	OTTHUMT00000269044.1	29	0.00	0	C	NM_005545		74467697	74467697	+1	no_errors	ENST00000249842	ensembl	human	known	69_37n	silent	30	14.29	5	SNP	0.011	T
ISLR	3671	genome.wustl.edu	37	15	74468369	74468369	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:74468369C>G	ENST00000249842.3	+	2	1527	c.1170C>G	c.(1168-1170)ctC>ctG	p.L390L	ISLR_ENST00000395118.1_Silent_p.L390L|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	390					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						TCATCTACCTCAGCCGTGCTG	0.617																																						dbGAP											0													75.0	64.0	68.0					15																	74468369		2198	4297	6495	-	-	-	SO:0001819	synonymous_variant	0			AB003184	CCDS10260.1	15q23-q24	2013-01-11			ENSG00000129009	ENSG00000129009		"""Immunoglobulin superfamily / I-set domain containing"""	6133	protein-coding gene	gene with protein product		602059				9325048	Standard	NM_005545		Approved	HsT17563	uc002axh.1	O14498	OTTHUMG00000137623	ENST00000249842.3:c.1170C>G	15.37:g.74468369C>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub2,pfscan_Ig-like	p.L390	ENST00000249842.3	37	c.1170	CCDS10260.1	15																																																																																			ISLR	-	NULL	ENSG00000129009		0.617	ISLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISLR	HGNC	protein_coding	OTTHUMT00000269044.1	23	0.00	0	C	NM_005545		74468369	74468369	+1	no_errors	ENST00000249842	ensembl	human	known	69_37n	silent	27	18.18	6	SNP	0.175	G
ISX	91464	genome.wustl.edu	37	22	35463228	35463228	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:35463228G>C	ENST00000308700.6	+	1	1100	c.148G>C	c.(148-150)Gaa>Caa	p.E50Q	ISX_ENST00000404699.2_Missense_Mutation_p.E50Q|RP1-272J12.1_ENST00000448318.4_RNA	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	50					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin A metabolic process (GO:1901738)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						GGACAGACCAGAAGGGCCAGG	0.587																																						dbGAP											0													34.0	36.0	35.0					22																	35463228		2202	4299	6501	-	-	-	SO:0001583	missense	0			AK025181	CCDS33640.1	22q12.3	2011-06-20			ENSG00000175329	ENSG00000175329		"""Homeoboxes / PRD class"""	28084	protein-coding gene	gene with protein product		612019					Standard	NM_001008494		Approved	RAXLX	uc003anj.3	Q2M1V0	OTTHUMG00000150962	ENST00000308700.6:c.148G>C	22.37:g.35463228G>C	ENSP00000311492:p.Glu50Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DJ5	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.E50Q	ENST00000308700.6	37	c.148	CCDS33640.1	22	.	.	.	.	.	.	.	.	.	.	G	8.836	0.941127	0.18281	.	.	ENSG00000175329	ENST00000308700;ENST00000404699	D;D	0.90261	-2.64;-2.64	4.04	-1.16	0.09678	.	0.892344	0.09408	N	0.806220	T	0.79695	0.4490	N	0.19112	0.55	0.09310	N	1	B	0.17465	0.022	B	0.14023	0.01	T	0.62407	-0.6861	10	0.12430	T	0.62	.	7.8647	0.29530	0.1079:0.6045:0.2876:0.0	.	50	Q2M1V0	ISX_HUMAN	Q	50	ENSP00000311492:E50Q;ENSP00000386037:E50Q	ENSP00000311492:E50Q	E	+	1	0	ISX	33793228	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.121000	0.15667	0.014000	0.14944	-0.165000	0.13383	GAA	ISX	-	NULL	ENSG00000175329		0.587	ISX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISX	HGNC	protein_coding	OTTHUMT00000320662.1	54	0.00	0	G	NM_001008494		35463228	35463228	+1	no_errors	ENST00000308700	ensembl	human	known	69_37n	missense	31	63.10	53	SNP	0.000	C
ITCH	83737	genome.wustl.edu	37	20	33026307	33026307	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:33026307G>A	ENST00000262650.6	+	9	809	c.673G>A	c.(673-675)Gaa>Aaa	p.E225K	ITCH_ENST00000535650.1_Missense_Mutation_p.E74K|ITCH_ENST00000374864.4_Missense_Mutation_p.E184K			Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	225					apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of defense response to virus (GO:0050687)|negative regulation of JNK cascade (GO:0046329)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cell growth (GO:0001558)|regulation of protein deubiquitination (GO:0090085)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	CXCR chemokine receptor binding (GO:0045236)|ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						AGATGACCCTGAAGATGCAGG	0.428																																						dbGAP											0													113.0	106.0	108.0					20																	33026307		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF095745	CCDS13234.1, CCDS58768.1, CCDS58769.1	20q11.22	2014-09-17	2012-02-23		ENSG00000078747	ENSG00000078747			13890	protein-coding gene	gene with protein product		606409	"""itchy (mouse homolog) E3 ubiquitin protein ligase"", ""itchy E3 ubiquitin protein ligase homolog (mouse)"""			11318614	Standard	NM_001257137		Approved	AIP4	uc010geu.2	Q96J02	OTTHUMG00000032300	ENST00000262650.6:c.673G>A	20.37:g.33026307G>A	ENSP00000262650:p.Glu225Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEW4|B4E234|E1P5P3|F5H217|O43584|Q5QP37|Q5TEL0|Q96F66|Q9BY75|Q9H451|Q9H4U5	Missense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP	p.E225K	ENST00000262650.6	37	c.673	CCDS58768.1	20	.	.	.	.	.	.	.	.	.	.	G	5.851	0.341161	0.11069	.	.	ENSG00000078747	ENST00000374864;ENST00000535650;ENST00000262650	T;T;T	0.30448	1.53;1.55;1.97	5.12	5.12	0.69794	.	0.575032	0.19823	N	0.105270	T	0.21347	0.0514	L	0.27053	0.805	0.41596	D	0.988827	B;P;P	0.45594	0.063;0.862;0.594	B;B;B	0.39185	0.026;0.293;0.164	T	0.04400	-1.0954	10	0.10902	T	0.67	.	16.3636	0.83296	0.0:0.0:1.0:0.0	.	136;225;184	B4DN85;Q96J02;Q5QP37	.;ITCH_HUMAN;.	K	184;74;225	ENSP00000363998:E184K;ENSP00000445608:E74K;ENSP00000262650:E225K	ENSP00000262650:E225K	E	+	1	0	ITCH	32489968	1.000000	0.71417	0.998000	0.56505	0.096000	0.18686	6.788000	0.75105	2.384000	0.81235	0.655000	0.94253	GAA	ITCH	-	NULL	ENSG00000078747		0.428	ITCH-002	KNOWN	basic|CCDS	protein_coding	ITCH	HGNC	protein_coding	OTTHUMT00000078783.2	106	0.00	0	G			33026307	33026307	+1	no_errors	ENST00000262650	ensembl	human	known	69_37n	missense	173	14.36	29	SNP	0.994	A
ITGA10	8515	genome.wustl.edu	37	1	145537186	145537186	+	Nonsense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:145537186C>G	ENST00000369304.3	+	19	2532	c.2357C>G	c.(2356-2358)tCa>tGa	p.S786*	ITGA10_ENST00000539363.1_Nonsense_Mutation_p.S643*|ITGA10_ENST00000538811.1_Nonsense_Mutation_p.S655*	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	786					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GTCCCCTTCTCAAAGGATTGT	0.473																																						dbGAP											0													75.0	67.0	70.0					1																	145537186		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.2357C>G	1.37:g.145537186C>G	ENSP00000358310:p.Ser786*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Nonsense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.S786*	ENST00000369304.3	37	c.2357	CCDS918.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.611689	0.97705	.	.	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	.	.	.	5.31	5.31	0.75309	.	0.077470	0.56097	D	0.000039	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	9.8138	0.40840	0.0:0.9097:0.0:0.0903	.	.	.	.	X	786;752;643;655	.	ENSP00000358310:S786X	S	+	2	0	ITGA10	144248543	0.945000	0.32115	0.969000	0.41365	0.884000	0.51177	1.756000	0.38390	2.763000	0.94921	0.563000	0.77884	TCA	ITGA10	-	pfam_Integrin_alpha-2	ENSG00000143127		0.473	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA10	HGNC	protein_coding	OTTHUMT00000038537.2	51	0.00	0	C	NM_003637		145537186	145537186	+1	no_errors	ENST00000369304	ensembl	human	known	69_37n	nonsense	56	22.22	16	SNP	0.991	G
ITGA11	22801	genome.wustl.edu	37	15	68642965	68642965	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:68642965G>A	ENST00000315757.7	-	9	1136	c.1050C>T	c.(1048-1050)ttC>ttT	p.F350F	ITGA11_ENST00000562826.1_5'Flank|ITGA11_ENST00000423218.2_Silent_p.F350F	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	350					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						CTTCCAGGCTGAAGATTCTGT	0.498																																						dbGAP											0													115.0	114.0	114.0					15																	68642965		1981	4167	6148	-	-	-	SO:0001819	synonymous_variant	0			AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"""Integrins"""	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.1050C>T	15.37:g.68642965G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	J3KQM2|Q8WYI8|Q9UKQ1	Silent	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.F350	ENST00000315757.7	37	c.1050	CCDS45291.1	15																																																																																			ITGA11	-	smart_VWF_A	ENSG00000137809		0.498	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGA11	HGNC	protein_coding		90	0.00	0	G	NM_012211		68642965	68642965	-1	no_errors	ENST00000315757	ensembl	human	known	69_37n	silent	100	20.00	25	SNP	1.000	A
ITGA3	3675	genome.wustl.edu	37	17	48148880	48148880	+	Silent	SNP	T	T	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:48148880T>C	ENST00000320031.8	+	6	1287	c.957T>C	c.(955-957)gaT>gaC	p.D319D	ITGA3_ENST00000007722.7_Silent_p.D319D|ITGA3_ENST00000544892.1_Silent_p.D94D	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	319					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|lung development (GO:0030324)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|negative regulation of cell projection organization (GO:0031345)|nephron development (GO:0072006)|neuron migration (GO:0001764)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|regulation of BMP signaling pathway (GO:0030510)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of Wnt signaling pathway (GO:0030111)|renal filtration (GO:0097205)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|skin development (GO:0043588)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integrin alpha3-beta1 complex (GO:0034667)|integrin complex (GO:0008305)|invadopodium membrane (GO:0071438)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	glycoprotein binding (GO:0001948)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						TGAACAATGATGGGTGAGAAT	0.627																																						dbGAP											0													23.0	23.0	23.0					17																	48148880		2203	4298	6501	-	-	-	SO:0001819	synonymous_variant	0			M59911	CCDS11557.1, CCDS11558.1	17q21.33	2010-03-23	2003-10-13		ENSG00000005884	ENSG00000005884		"""CD molecules"", ""Integrins"""	6139	protein-coding gene	gene with protein product		605025	"""antigen identified by monoclonal antibody J143"""	MSK18		1655803, 9704023	Standard	NM_005501		Approved	CD49c, VLA3a, VCA-2, GAP-B3	uc010dbm.3	P26006	OTTHUMG00000161890	ENST00000320031.8:c.957T>C	17.37:g.48148880T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Silent	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.D319	ENST00000320031.8	37	c.957	CCDS11558.1	17																																																																																			ITGA3	-	pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	ENSG00000005884		0.627	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGA3	HGNC	protein_coding	OTTHUMT00000366298.1	43	0.00	0	T	NM_005501		48148880	48148880	+1	no_errors	ENST00000320031	ensembl	human	known	69_37n	silent	46	22.03	13	SNP	1.000	C
ITGA3	3675	genome.wustl.edu	37	17	48156613	48156613	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:48156613C>G	ENST00000320031.8	+	20	2904	c.2574C>G	c.(2572-2574)ctC>ctG	p.L858L	ITGA3_ENST00000007722.7_Silent_p.L858L	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	858					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|lung development (GO:0030324)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|negative regulation of cell projection organization (GO:0031345)|nephron development (GO:0072006)|neuron migration (GO:0001764)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|regulation of BMP signaling pathway (GO:0030510)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of Wnt signaling pathway (GO:0030111)|renal filtration (GO:0097205)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|skin development (GO:0043588)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integrin alpha3-beta1 complex (GO:0034667)|integrin complex (GO:0008305)|invadopodium membrane (GO:0071438)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	glycoprotein binding (GO:0001948)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						CTCTCAACCTCACTCTTTCTG	0.547																																						dbGAP											0													145.0	135.0	138.0					17																	48156613		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M59911	CCDS11557.1, CCDS11558.1	17q21.33	2010-03-23	2003-10-13		ENSG00000005884	ENSG00000005884		"""CD molecules"", ""Integrins"""	6139	protein-coding gene	gene with protein product		605025	"""antigen identified by monoclonal antibody J143"""	MSK18		1655803, 9704023	Standard	NM_005501		Approved	CD49c, VLA3a, VCA-2, GAP-B3	uc010dbm.3	P26006	OTTHUMG00000161890	ENST00000320031.8:c.2574C>G	17.37:g.48156613C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Silent	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.L858	ENST00000320031.8	37	c.2574	CCDS11558.1	17																																																																																			ITGA3	-	pfam_Integrin_alpha-2	ENSG00000005884		0.547	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGA3	HGNC	protein_coding	OTTHUMT00000366298.1	70	0.00	0	C	NM_005501		48156613	48156613	+1	no_errors	ENST00000320031	ensembl	human	known	69_37n	silent	67	16.25	13	SNP	0.981	G
ITGA4	3676	genome.wustl.edu	37	2	182360134	182360134	+	Missense_Mutation	SNP	T	T	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:182360134T>A	ENST00000397033.2	+	13	1806	c.1376T>A	c.(1375-1377)gTc>gAc	p.V459D		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	459					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	GATTCTGCTGTCTTGCTAAGG	0.363																																						dbGAP											0													272.0	237.0	248.0					2																	182360134		1875	4118	5993	-	-	-	SO:0001583	missense	0				CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.1376T>A	2.37:g.182360134T>A	ENSP00000380227:p.Val459Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPG4|Q7Z4L6	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.V459D	ENST00000397033.2	37	c.1376	CCDS42788.1	2	.	.	.	.	.	.	.	.	.	.	T	20.8	4.049242	0.75846	.	.	ENSG00000115232	ENST00000425522;ENST00000397033;ENST00000233573	T;T	0.65549	-0.16;-0.16	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.84620	0.5512	M	0.93328	3.405	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88646	0.3179	10	0.87932	D	0	.	16.3798	0.83452	0.0:0.0:0.0:1.0	.	459	P13612	ITA4_HUMAN	D	459	ENSP00000380227:V459D;ENSP00000233573:V459D	ENSP00000233573:V459D	V	+	2	0	ITGA4	182068379	1.000000	0.71417	0.997000	0.53966	0.854000	0.48673	5.053000	0.64269	2.271000	0.75665	0.533000	0.62120	GTC	ITGA4	-	smart_Int_alpha_beta-p,prints_Integrin_alpha	ENSG00000115232		0.363	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA4	HGNC	protein_coding	OTTHUMT00000334427.1	309	0.64	2	T			182360134	182360134	+1	no_errors	ENST00000397033	ensembl	human	known	69_37n	missense	267	22.16	76	SNP	1.000	A
ITGA4	3676	genome.wustl.edu	37	2	182363438	182363438	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:182363438G>C	ENST00000397033.2	+	15	2059	c.1629G>C	c.(1627-1629)gtG>gtC	p.V543V		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	543					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	CTTCTGACGTGATTACAGGAA	0.358																																						dbGAP											0													98.0	95.0	96.0					2																	182363438		2009	4179	6188	-	-	-	SO:0001819	synonymous_variant	0				CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.1629G>C	2.37:g.182363438G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPG4|Q7Z4L6	Silent	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.V543	ENST00000397033.2	37	c.1629	CCDS42788.1	2																																																																																			ITGA4	-	pfam_Integrin_alpha-2	ENSG00000115232		0.358	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA4	HGNC	protein_coding	OTTHUMT00000334427.1	115	0.00	0	G			182363438	182363438	+1	no_errors	ENST00000397033	ensembl	human	known	69_37n	silent	105	22.79	31	SNP	0.367	C
ITGA5	3678	genome.wustl.edu	37	12	54794685	54794685	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:54794685C>G	ENST00000293379.4	-	25	2849	c.2588G>C	c.(2587-2589)aGa>aCa	p.R863T	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	863					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|memory (GO:0007613)|negative regulation of anoikis (GO:2000811)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|viral process (GO:0016032)|wound healing, spreading of epidermal cells (GO:0035313)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	metal ion binding (GO:0046872)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						TCCCGTAACTCTGGTCACATA	0.562																																						dbGAP											0													108.0	94.0	99.0					12																	54794685		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8880.1	12q11-q13	2010-03-23				ENSG00000161638		"""CD molecules"", ""Integrins"""	6141	protein-coding gene	gene with protein product		135620		FNRA		2454952	Standard	NM_002205		Approved	CD49e	uc001sga.3	P08648	OTTHUMG00000169841	ENST00000293379.4:c.2588G>C	12.37:g.54794685C>G	ENSP00000293379:p.Arg863Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96HA5	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.R863T	ENST00000293379.4	37	c.2588	CCDS8880.1	12	.	.	.	.	.	.	.	.	.	.	C	2.395	-0.338989	0.05243	.	.	ENSG00000161638	ENST00000293379	T	0.48201	0.82	5.52	-1.99	0.07457	Integrin alpha-2 (1);	0.437122	0.26991	N	0.021461	T	0.32194	0.0821	L	0.40543	1.245	0.09310	N	1	B	0.24675	0.109	B	0.27380	0.079	T	0.18335	-1.0340	10	0.32370	T	0.25	.	7.6199	0.28179	0.0:0.3635:0.1151:0.5214	.	863	P08648	ITA5_HUMAN	T	863	ENSP00000293379:R863T	ENSP00000293379:R863T	R	-	2	0	ITGA5	53080952	0.001000	0.12720	0.016000	0.15963	0.011000	0.07611	-0.176000	0.09811	-0.332000	0.08489	-1.008000	0.02478	AGA	ITGA5	-	pfam_Integrin_alpha-2	ENSG00000161638		0.562	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA5	HGNC	protein_coding	OTTHUMT00000406174.1	94	0.00	0	C			54794685	54794685	-1	no_errors	ENST00000293379	ensembl	human	known	69_37n	missense	95	22.13	27	SNP	0.003	G
ITGA8	8516	genome.wustl.edu	37	10	15559177	15559177	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:15559177C>G	ENST00000378076.3	-	30	3525	c.3172G>C	c.(3172-3174)Gac>Cac	p.D1058H		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	1058					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GGGGTCTTGTCATTTGTCAGC	0.428																																						dbGAP											0													77.0	75.0	76.0					10																	15559177		2203	4300	6503	-	-	-	SO:0001583	missense	0			L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.3172G>C	10.37:g.15559177C>G	ENSP00000367316:p.Asp1058His	Somatic		WXS	Illumina GAIIx	Phase_IV	B0YJ31|Q5VX94	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.D1058H	ENST00000378076.3	37	c.3172	CCDS31155.1	10	.	.	.	.	.	.	.	.	.	.	C	11.37	1.617548	0.28801	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.70164	-0.46	5.95	2.09	0.27110	.	0.592611	0.19446	N	0.114047	T	0.56499	0.1989	L	0.36672	1.1	0.21416	N	0.999694	P;P	0.42337	0.776;0.668	B;B	0.43508	0.422;0.242	T	0.48352	-0.9043	10	0.51188	T	0.08	.	8.4146	0.32664	0.0:0.6123:0.0:0.3877	.	1043;1058	F5H818;P53708	.;ITA8_HUMAN	H	1058;1043	ENSP00000367316:D1058H	ENSP00000367316:D1058H	D	-	1	0	ITGA8	15599183	0.966000	0.33281	0.052000	0.19188	0.594000	0.36715	1.951000	0.40333	0.424000	0.26061	-0.253000	0.11424	GAC	ITGA8	-	NULL	ENSG00000077943		0.428	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA8	HGNC	protein_coding	OTTHUMT00000046987.1	108	0.00	0	C	NM_003638		15559177	15559177	-1	no_errors	ENST00000378076	ensembl	human	known	69_37n	missense	48	28.36	19	SNP	0.187	G
ITGA8	8516	genome.wustl.edu	37	10	15647745	15647745	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:15647745C>A	ENST00000378076.3	-	19	2301	c.1948G>T	c.(1948-1950)Gac>Tac	p.D650Y	ITGA8_ENST00000477064.1_5'Flank	NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	650					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						AGCTTCAAGTCAGGAACACAC	0.393																																						dbGAP											0													104.0	91.0	96.0					10																	15647745		2203	4300	6503	-	-	-	SO:0001583	missense	0			L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.1948G>T	10.37:g.15647745C>A	ENSP00000367316:p.Asp650Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B0YJ31|Q5VX94	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.D650Y	ENST00000378076.3	37	c.1948	CCDS31155.1	10	.	.	.	.	.	.	.	.	.	.	C	24.2	4.501439	0.85176	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.58652	0.32	5.51	5.51	0.81932	Integrin alpha-2 (1);	0.042670	0.85682	D	0.000000	T	0.79393	0.4438	M	0.84585	2.705	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.69142	0.937;0.962	T	0.82464	-0.0444	10	0.87932	D	0	.	19.427	0.94746	0.0:1.0:0.0:0.0	.	635;650	F5H818;P53708	.;ITA8_HUMAN	Y	650;635	ENSP00000367316:D650Y	ENSP00000367316:D650Y	D	-	1	0	ITGA8	15687751	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.714000	0.74692	2.603000	0.88011	0.655000	0.94253	GAC	ITGA8	-	pfam_Integrin_alpha-2	ENSG00000077943		0.393	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA8	HGNC	protein_coding	OTTHUMT00000046987.1	62	0.00	0	C	NM_003638		15647745	15647745	-1	no_errors	ENST00000378076	ensembl	human	known	69_37n	missense	63	22.22	18	SNP	1.000	A
ITGAX	3687	genome.wustl.edu	37	16	31371337	31371337	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:31371337C>A	ENST00000268296.4	+	7	779	c.658C>A	c.(658-660)Cac>Aac	p.H220N	ITGAX_ENST00000562522.1_Missense_Mutation_p.H220N	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	220	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GGCTTCTGTTCACCAGCTGCA	0.517																																						dbGAP											0													104.0	103.0	104.0					16																	31371337		2197	4300	6497	-	-	-	SO:0001583	missense	0			BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.658C>A	16.37:g.31371337C>A	ENSP00000268296:p.His220Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IVA6	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,prints_Integrin_alpha,pfscan_VWF_A	p.H220N	ENST00000268296.4	37	c.658	CCDS10711.1	16	.	.	.	.	.	.	.	.	.	.	C	0.522	-0.861705	0.02610	.	.	ENSG00000140678	ENST00000268296	T	0.76578	-1.03	4.88	-9.76	0.00503	von Willebrand factor, type A (3);	.	.	.	.	T	0.38558	0.1045	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34825	-0.9813	9	0.17369	T	0.5	.	2.0667	0.03604	0.2964:0.4082:0.1465:0.149	.	220	P20702	ITAX_HUMAN	N	220	ENSP00000268296:H220N	ENSP00000268296:H220N	H	+	1	0	ITGAX	31278838	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-9.413000	0.00011	-3.768000	0.00109	-0.463000	0.05309	CAC	ITGAX	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000140678		0.517	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGAX	HGNC	protein_coding	OTTHUMT00000255628.2	87	0.00	0	C	NM_000887		31371337	31371337	+1	no_errors	ENST00000268296	ensembl	human	known	69_37n	missense	67	19.28	16	SNP	0.000	A
ITGAX	3687	genome.wustl.edu	37	16	31374687	31374687	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:31374687C>A	ENST00000268296.4	+	14	1823	c.1702C>A	c.(1702-1704)Cac>Aac	p.H568N	ITGAX_ENST00000562522.1_Missense_Mutation_p.H568N	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	568					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CAGCCCCTCCCACAGCCAGGT	0.572																																						dbGAP											0													67.0	68.0	68.0					16																	31374687		2197	4300	6497	-	-	-	SO:0001583	missense	0			BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.1702C>A	16.37:g.31374687C>A	ENSP00000268296:p.His568Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IVA6	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,prints_Integrin_alpha,pfscan_VWF_A	p.H568N	ENST00000268296.4	37	c.1702	CCDS10711.1	16	.	.	.	.	.	.	.	.	.	.	C	10.89	1.477701	0.26511	.	.	ENSG00000140678	ENST00000268296	T	0.28454	1.61	4.2	-2.22	0.06952	.	.	.	.	.	T	0.26122	0.0637	M	0.76170	2.325	0.09310	N	1	P	0.34955	0.477	B	0.32928	0.155	T	0.33574	-0.9863	9	0.10636	T	0.68	.	8.3469	0.32279	0.0:0.3343:0.0:0.6657	.	568	P20702	ITAX_HUMAN	N	568	ENSP00000268296:H568N	ENSP00000268296:H568N	H	+	1	0	ITGAX	31282188	0.877000	0.30153	0.007000	0.13788	0.417000	0.31264	0.942000	0.29017	-0.215000	0.10063	-0.459000	0.05422	CAC	ITGAX	-	smart_Int_alpha_beta-p	ENSG00000140678		0.572	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGAX	HGNC	protein_coding	OTTHUMT00000255628.2	94	0.00	0	C	NM_000887		31374687	31374687	+1	no_errors	ENST00000268296	ensembl	human	known	69_37n	missense	55	25.68	19	SNP	0.031	A
ITGB6	3694	genome.wustl.edu	37	2	160983019	160983019	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:160983019G>A	ENST00000283249.2	-	11	1991	c.1754C>T	c.(1753-1755)tCt>tTt	p.S585F	ITGB6_ENST00000409967.2_Intron|ITGB6_ENST00000409872.1_Missense_Mutation_p.S585F|ITGB6_ENST00000428609.2_Missense_Mutation_p.S543F	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	585	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TCCATCTTCAGAGACGCAGGA	0.582																																						dbGAP											0													95.0	83.0	87.0					2																	160983019		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"""Integrins"""	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.1754C>T	2.37:g.160983019G>A	ENSP00000283249:p.Ser585Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Missense_Mutation	SNP	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,prints_Integrin_bsu	p.S585F	ENST00000283249.2	37	c.1754	CCDS2212.1	2	.	.	.	.	.	.	.	.	.	.	G	17.13	3.311510	0.60414	.	.	ENSG00000115221	ENST00000283249;ENST00000428609;ENST00000409872	D;D;D	0.95756	-3.8;-3.8;-3.8	5.62	5.62	0.85841	EGF, extracellular (1);	0.169946	0.53938	D	0.000053	D	0.98232	0.9415	M	0.93016	3.37	0.80722	D	1	D;D	0.76494	0.998;0.999	P;D	0.64776	0.907;0.929	D	0.98931	1.0787	10	0.87932	D	0	.	19.6764	0.95936	0.0:0.0:1.0:0.0	.	543;585	E9PEE8;P18564	.;ITB6_HUMAN	F	585;543;585	ENSP00000283249:S585F;ENSP00000408024:S543F;ENSP00000386367:S585F	ENSP00000283249:S585F	S	-	2	0	ITGB6	160691265	1.000000	0.71417	0.028000	0.17463	0.041000	0.13682	7.973000	0.88032	2.660000	0.90430	0.655000	0.94253	TCT	ITGB6	-	pirsf_Integrin_bsu,pfam_EGF_extracell	ENSG00000115221		0.582	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB6	HGNC	protein_coding	OTTHUMT00000255036.1	48	0.00	0	G	NM_000888		160983019	160983019	-1	no_errors	ENST00000283249	ensembl	human	known	69_37n	missense	40	24.53	13	SNP	0.984	A
ITGB8	3696	genome.wustl.edu	37	7	20444323	20444323	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:20444323C>T	ENST00000222573.4	+	11	2444	c.1760C>T	c.(1759-1761)tCa>tTa	p.S587L	ITGB8_ENST00000537992.1_Missense_Mutation_p.S452L	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	587	Cysteine-rich tandem repeats.				cartilage development (GO:0051216)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|ganglioside metabolic process (GO:0001573)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of gene expression (GO:0010629)|placenta blood vessel development (GO:0060674)|positive regulation of gene expression (GO:0010628)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	extracellular matrix protein binding (GO:1990430)|receptor activity (GO:0004872)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						CAGTGCCCTTCAGCAGCAGCC	0.572																																						dbGAP											0													145.0	112.0	123.0					7																	20444323		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5370.1	7p15.3	2010-03-23			ENSG00000105855	ENSG00000105855		"""Integrins"""	6163	protein-coding gene	gene with protein product		604160					Standard	XM_005249751		Approved		uc003suu.3	P26012	OTTHUMG00000023594	ENST00000222573.4:c.1760C>T	7.37:g.20444323C>T	ENSP00000222573:p.Ser587Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D133|B4DHD4	Missense_Mutation	SNP	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_EGF_extracell,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,prints_Integrin_bsu	p.S587L	ENST00000222573.4	37	c.1760	CCDS5370.1	7	.	.	.	.	.	.	.	.	.	.	C	13.51	2.258658	0.39896	.	.	ENSG00000105855	ENST00000537992;ENST00000222573	D;D	0.95690	-3.78;-3.78	5.77	5.77	0.91146	.	0.196102	0.35708	N	0.003027	D	0.89787	0.6816	N	0.16478	0.41	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.76900	-0.2788	10	0.25751	T	0.34	.	13.1356	0.59407	0.0:0.8866:0.0:0.1134	.	587	P26012	ITB8_HUMAN	L	452;587	ENSP00000441561:S452L;ENSP00000222573:S587L	ENSP00000222573:S587L	S	+	2	0	ITGB8	20410848	0.012000	0.17670	0.507000	0.27676	0.829000	0.46940	1.111000	0.31159	2.890000	0.99128	0.650000	0.86243	TCA	ITGB8	-	pirsf_Integrin_bsu	ENSG00000105855		0.572	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB8	HGNC	protein_coding	OTTHUMT00000059915.3	75	0.00	0	C	NM_002214		20444323	20444323	+1	no_errors	ENST00000222573	ensembl	human	known	69_37n	missense	61	28.24	24	SNP	0.065	T
ITIH6	347365	genome.wustl.edu	37	X	54780365	54780365	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:54780365G>C	ENST00000218436.6	-	10	3265	c.3236C>G	c.(3235-3237)tCa>tGa	p.S1079*		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	1079					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										TGGCTTACCTGAGGAGGAGAA	0.527																																						dbGAP											0													114.0	78.0	90.0					X																	54780365		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.3236C>G	X.37:g.54780365G>C	ENSP00000218436:p.Ser1079*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NN03	Nonsense_Mutation	SNP	pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.S1079*	ENST00000218436.6	37	c.3236	CCDS14361.1	X	.	.	.	.	.	.	.	.	.	.	G	39	7.386496	0.98252	.	.	ENSG00000102313	ENST00000218436	.	.	.	3.25	3.25	0.37280	.	0.802999	0.11039	U	0.606400	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	8.0841	0.30762	0.0:0.2465:0.7535:0.0	.	.	.	.	X	1079	.	ENSP00000218436:S1079X	S	-	2	0	ITIH5L	54797090	0.999000	0.42202	0.947000	0.38551	0.806000	0.45545	0.762000	0.26503	1.208000	0.43306	0.417000	0.27973	TCA	ITIH6	-	NULL	ENSG00000102313		0.527	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITIH6	HGNC	protein_coding	OTTHUMT00000056814.2	84	0.00	0	G	NM_198510		54780365	54780365	-1	no_errors	ENST00000218436	ensembl	human	known	69_37n	nonsense	102	15.00	18	SNP	0.993	C
ITLN1	55600	genome.wustl.edu	37	1	160849181	160849181	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:160849181G>C	ENST00000326245.3	-	7	824	c.709C>G	c.(709-711)Cag>Gag	p.Q237E	ITLN1_ENST00000487531.1_5'UTR	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	237	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				positive regulation of glucose import (GO:0046326)|positive regulation of protein phosphorylation (GO:0001934)|response to nematode (GO:0009624)	anchored component of membrane (GO:0031225)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			ACCCTGAACTGAACAAATCCC	0.498																																						dbGAP											0													124.0	107.0	113.0					1																	160849181		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB036706	CCDS1211.1	1q21.3	2008-02-05			ENSG00000179914	ENSG00000179914			18259	protein-coding gene	gene with protein product		609873				11313366, 11181563	Standard	NM_017625		Approved	ITLN, FLJ20022, LFR, HL-1, hIntL	uc001fxc.3	Q8WWA0	OTTHUMG00000028604	ENST00000326245.3:c.709C>G	1.37:g.160849181G>C	ENSP00000323587:p.Gln237Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5IWS4|Q5VYI4|Q6YDJ3|Q9NP67	Missense_Mutation	SNP	superfamily_Fibrinogen_a/b/g_C	p.Q237E	ENST00000326245.3	37	c.709	CCDS1211.1	1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.567470	0.45694	.	.	ENSG00000179914	ENST00000326245	T	0.22539	1.95	3.96	3.96	0.45880	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (1);	0.326395	0.24808	N	0.035439	T	0.20170	0.0485	M	0.88377	2.95	0.33723	D	0.61729	B	0.20052	0.041	B	0.25291	0.059	T	0.19614	-1.0300	10	0.51188	T	0.08	-11.3029	13.5475	0.61713	0.0:0.0:1.0:0.0	.	237	Q8WWA0	ITLN1_HUMAN	E	237	ENSP00000323587:Q237E	ENSP00000323587:Q237E	Q	-	1	0	ITLN1	159115805	0.688000	0.27680	0.988000	0.46212	0.988000	0.76386	1.195000	0.32186	2.016000	0.59253	0.655000	0.94253	CAG	ITLN1	-	superfamily_Fibrinogen_a/b/g_C	ENSG00000179914		0.498	ITLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITLN1	HGNC	protein_coding	OTTHUMT00000071462.1	62	0.00	0	G	NM_017625		160849181	160849181	-1	no_errors	ENST00000326245	ensembl	human	known	69_37n	missense	49	27.94	19	SNP	0.999	C
ITM2A	9452	genome.wustl.edu	37	X	78622670	78622670	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:78622670C>T	ENST00000373298.2	-	1	186	c.43G>A	c.(43-45)Gag>Aag	p.E15K	ITM2A_ENST00000434584.2_Missense_Mutation_p.E15K|ITM2A_ENST00000469541.1_5'Flank	NM_004867.4	NP_004858.1	O43736	ITM2A_HUMAN	integral membrane protein 2A	15						integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						CGCGCCTCCTCCTTTTGCACG	0.622																																						dbGAP											0													46.0	34.0	38.0					X																	78622670		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC034485	CCDS14444.1, CCDS55455.1	Xq13.3-q21.2	2012-10-10			ENSG00000078596	ENSG00000078596		"""BRICHOS domain containing"""	6173	protein-coding gene	gene with protein product	"""BRICHOS domain containing 2A"""	300222				9892734, 8702637	Standard	NM_004867		Approved	BRICD2A, E25A	uc004edh.3	O43736	OTTHUMG00000021900	ENST00000373298.2:c.43G>A	X.37:g.78622670C>T	ENSP00000362395:p.Glu15Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7X5|B4E062|Q6IBC9	Missense_Mutation	SNP	pfam_BRICHOS_dom,pfscan_BRICHOS_dom	p.E15K	ENST00000373298.2	37	c.43	CCDS14444.1	X	.	.	.	.	.	.	.	.	.	.	C	11.56	1.675684	0.29783	.	.	ENSG00000078596	ENST00000373298;ENST00000434584	T;T	0.61040	1.94;0.14	4.11	3.2	0.36748	.	0.427122	0.22622	N	0.057694	T	0.38532	0.1044	L	0.27053	0.805	0.32709	N	0.511877	B;B	0.26081	0.141;0.013	B;B	0.17722	0.019;0.002	T	0.40534	-0.9558	10	0.08599	T	0.76	-22.9771	12.7803	0.57472	0.0:0.8189:0.1811:0.0	.	15;15	B4E062;O43736	.;ITM2A_HUMAN	K	15	ENSP00000362395:E15K;ENSP00000415533:E15K	ENSP00000362395:E15K	E	-	1	0	ITM2A	78509326	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	1.758000	0.38410	1.883000	0.54544	0.513000	0.50165	GAG	ITM2A	-	NULL	ENSG00000078596		0.622	ITM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITM2A	HGNC	protein_coding	OTTHUMT00000057329.1	40	0.00	0	C	NM_004867		78622670	78622670	-1	no_errors	ENST00000373298	ensembl	human	known	69_37n	missense	27	32.50	13	SNP	1.000	T
ITPKC	80271	genome.wustl.edu	37	19	41243662	41243662	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:41243662C>G	ENST00000263370.2	+	6	1869	c.1836C>G	c.(1834-1836)ttC>ttG	p.F612L		NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	612					inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CCCCCTTCTTCAAGACCCACG	0.537																																						dbGAP											0													170.0	155.0	160.0					19																	41243662		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y11999	CCDS12563.1	19q13.1	2011-04-28	2011-04-28		ENSG00000086544	ENSG00000086544	2.7.1.127		14897	protein-coding gene	gene with protein product		606476	"""inositol 1,4,5-trisphosphate 3-kinase C"""			11085927	Standard	NM_025194		Approved	IP3KC, IP3-3KC	uc002oot.3	Q96DU7		ENST00000263370.2:c.1836C>G	19.37:g.41243662C>G	ENSP00000263370:p.Phe612Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UE25|Q9Y475	Missense_Mutation	SNP	pfam_IPK	p.F612L	ENST00000263370.2	37	c.1836	CCDS12563.1	19	.	.	.	.	.	.	.	.	.	.	C	16.90	3.250633	0.59212	.	.	ENSG00000086544	ENST00000263370	T	0.13089	2.62	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.37404	0.1002	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.09400	-1.0676	10	0.87932	D	0	-20.3359	11.9524	0.52962	0.0:0.9191:0.0:0.0809	.	612	Q96DU7	IP3KC_HUMAN	L	612	ENSP00000263370:F612L	ENSP00000263370:F612L	F	+	3	2	ITPKC	45935502	1.000000	0.71417	1.000000	0.80357	0.638000	0.38207	4.219000	0.58561	2.740000	0.93945	0.650000	0.86243	TTC	ITPKC	-	pfam_IPK	ENSG00000086544		0.537	ITPKC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPKC	HGNC	protein_coding	OTTHUMT00000463104.1	92	0.00	0	C	NM_025194		41243662	41243662	+1	no_errors	ENST00000263370	ensembl	human	known	69_37n	missense	99	24.43	32	SNP	1.000	G
ITPR2	3709	genome.wustl.edu	37	12	26752196	26752196	+	Missense_Mutation	SNP	T	T	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:26752196T>C	ENST00000381340.3	-	30	4300	c.3884A>G	c.(3883-3885)cAc>cGc	p.H1295R		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1295					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	GTGCACAAAGTGTTGTACAAC	0.433																																						dbGAP											0													245.0	234.0	238.0					12																	26752196		2037	4199	6236	-	-	-	SO:0001583	missense	0			D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.3884A>G	12.37:g.26752196T>C	ENSP00000370744:p.His1295Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	O94773	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.H1295R	ENST00000381340.3	37	c.3884	CCDS41764.1	12	.	.	.	.	.	.	.	.	.	.	T	18.72	3.684452	0.68157	.	.	ENSG00000123104	ENST00000381340	D	0.95377	-3.69	4.12	4.12	0.48240	Intracellular calcium-release channel (1);	0.000000	0.85682	D	0.000000	D	0.97111	0.9056	M	0.73962	2.25	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.96819	0.9602	10	0.44086	T	0.13	.	13.6089	0.62063	0.0:0.0:0.0:1.0	.	1295	Q14571	ITPR2_HUMAN	R	1295	ENSP00000370744:H1295R	ENSP00000370744:H1295R	H	-	2	0	ITPR2	26643463	1.000000	0.71417	0.747000	0.31113	0.679000	0.39708	7.749000	0.85096	1.858000	0.53909	0.528000	0.53228	CAC	ITPR2	-	pfam_Ca-rel_channel,superfamily_ARM-type_fold	ENSG00000123104		0.433	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR2	HGNC	protein_coding	OTTHUMT00000402732.1	146	0.00	0	T	NM_002223		26752196	26752196	-1	no_errors	ENST00000381340	ensembl	human	known	69_37n	missense	45	43.04	34	SNP	1.000	C
ITPR3	3710	genome.wustl.edu	37	6	33589434	33589434	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:33589434G>C	ENST00000374316.5	+	2	1115	c.55G>C	c.(55-57)Gag>Cag	p.E19Q	ITPR3_ENST00000605930.1_Missense_Mutation_p.E19Q			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	19					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|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)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	CCTGTACGCCGAGGGCTCCGT	0.677																																						dbGAP											0													50.0	38.0	42.0					6																	33589434		2203	4300	6503	-	-	-	SO:0001583	missense	0			D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.55G>C	6.37:g.33589434G>C	ENSP00000363435:p.Glu19Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14649|Q5TAQ2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ARM-type_fold,smart_MIR_motif,pfscan_MIR_motif,prints_InsP3_rcpt-bd	p.E19Q	ENST00000374316.5	37	c.55	CCDS4783.1	6	.	.	.	.	.	.	.	.	.	.	G	29.6	5.019868	0.93462	.	.	ENSG00000096433	ENST00000374316	D	0.98649	-5.05	3.73	3.73	0.42828	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);	0.000000	0.64402	D	0.000001	D	0.99146	0.9705	M	0.91717	3.235	0.53005	D	0.99996	D	0.89917	1.0	D	0.68621	0.959	D	0.99187	1.0869	10	0.87932	D	0	-28.1351	14.3041	0.66373	0.0:0.0:1.0:0.0	.	19	Q14573	ITPR3_HUMAN	Q	19	ENSP00000363435:E19Q	ENSP00000363435:E19Q	E	+	1	0	ITPR3	33697412	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.628000	0.90979	1.920000	0.55613	0.442000	0.29010	GAG	ITPR3	-	pfam_Ins145_P3_rcpt	ENSG00000096433		0.677	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR3	HGNC	protein_coding	OTTHUMT00000040204.2	27	0.00	0	G	NM_002224		33589434	33589434	+1	no_errors	ENST00000374316	ensembl	human	known	69_37n	missense	19	20.83	5	SNP	1.000	C
ITPRIP	85450	genome.wustl.edu	37	10	106074281	106074281	+	Missense_Mutation	SNP	C	C	T	rs557384863		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:106074281C>T	ENST00000337478.1	-	2	1700	c.1529G>A	c.(1528-1530)cGa>cAa	p.R510Q	RP11-127L20.5_ENST00000472915.2_RNA|ITPRIP_ENST00000358187.2_Missense_Mutation_p.R510Q|ITPRIP_ENST00000278071.2_Missense_Mutation_p.R510Q	NM_001272013.1	NP_001258942.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	510						membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						GTAAAGGCTTCGCTGCAGGAC	0.587													c|||	1	0.000199681	0.0	0.0	5008	,	,		20567	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													81.0	78.0	79.0					10																	106074281		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB051541	CCDS7557.1	10q25.1	2011-04-28	2011-04-28	2008-08-11	ENSG00000148841	ENSG00000148841			29370	protein-coding gene	gene with protein product			"""KIAA1754"", ""inositol 1,4,5-triphosphate receptor interacting protein"""	KIAA1754		11214970, 16990268	Standard	NM_001272012		Approved	bA127L20.2, DANGER	uc001kye.4	Q8IWB1	OTTHUMG00000019003	ENST00000337478.1:c.1529G>A	10.37:g.106074281C>T	ENSP00000337178:p.Arg510Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DRA5|Q5JU17|Q96MS8|Q9C0A9	Missense_Mutation	SNP	NULL	p.R510Q	ENST00000337478.1	37	c.1529	CCDS7557.1	10	.	.	.	.	.	.	.	.	.	.	c	9.833	1.188984	0.21954	.	.	ENSG00000148841	ENST00000337478;ENST00000278071;ENST00000358187	T;T;T	0.24538	1.85;1.85;1.85	5.12	4.22	0.49857	.	0.188375	0.44285	N	0.000470	T	0.45716	0.1356	M	0.66939	2.045	0.25184	N	0.990183	D	0.89917	1.0	D	0.69654	0.965	T	0.37407	-0.9707	10	0.27082	T	0.32	-4.1995	14.1434	0.65334	0.0:0.9271:0.0:0.0729	.	510	Q8IWB1	IPRI_HUMAN	Q	510	ENSP00000337178:R510Q;ENSP00000278071:R510Q;ENSP00000350915:R510Q	ENSP00000278071:R510Q	R	-	2	0	ITPRIP	106064271	0.998000	0.40836	0.908000	0.35775	0.237000	0.25408	3.814000	0.55643	1.305000	0.44909	-0.215000	0.12644	CGA	ITPRIP	-	NULL	ENSG00000148841		0.587	ITPRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPRIP	HGNC	protein_coding	OTTHUMT00000050204.1	25	0.00	0	C	NM_033397		106074281	106074281	-1	no_errors	ENST00000278071	ensembl	human	known	69_37n	missense	10	47.37	9	SNP	0.822	T
ITPRIPL1	150771	genome.wustl.edu	37	2	96992960	96992960	+	Silent	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:96992960C>A	ENST00000439118.2	+	3	842	c.591C>A	c.(589-591)ctC>ctA	p.L197L	ITPRIPL1_ENST00000361124.4_Silent_p.L205L|ITPRIPL1_ENST00000542887.1_Silent_p.L189L|ITPRIPL1_ENST00000536814.1_Silent_p.L189L	NM_001008949.2	NP_001008949.1	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	197						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGGATGATCTCATTGAGGCCT	0.557																																						dbGAP											0													97.0	95.0	96.0					2																	96992960		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS33250.1, CCDS46360.1, CCDS54378.1	2q11.2	2011-04-28	2011-04-28	2008-08-11	ENSG00000198885	ENSG00000198885			29371	protein-coding gene	gene with protein product			"""KIAA1754-like"", ""inositol 1,4,5-triphosphate receptor interacting protein-like 1"""	KIAA1754L		12477932	Standard	NM_178495		Approved		uc010yul.2	Q6GPH6	OTTHUMG00000155230	ENST00000439118.2:c.591C>A	2.37:g.96992960C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	F5H1L8|Q8NE61	Nonsense_Mutation	SNP	NULL	p.S229*	ENST00000439118.2	37	c.686	CCDS46360.1	2	.	.	.	.	.	.	.	.	.	.	C	5.096	0.203381	0.09704	.	.	ENSG00000198885	ENST00000420728	.	.	.	5.08	2.23	0.28157	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-14.2976	10.8276	0.46643	0.1133:0.2613:0.6254:0.0	.	.	.	.	X	229	.	.	S	+	2	0	ITPRIPL1	96356687	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	2.260000	0.43267	0.270000	0.21984	0.655000	0.94253	TCA	ITPRIPL1	-	NULL	ENSG00000198885		0.557	ITPRIPL1-002	KNOWN	basic|CCDS	protein_coding	ITPRIPL1	HGNC	protein_coding	OTTHUMT00000338896.1	27	0.00	0	C	NM_178495		96992960	96992960	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000420728	ensembl	human	putative	69_37n	nonsense	27	22.86	8	SNP	1.000	A
ITSN1	6453	genome.wustl.edu	37	21	35154375	35154375	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr21:35154375G>A	ENST00000381318.3	+	16	2050	c.1762G>A	c.(1762-1764)Gaa>Aaa	p.E588K	ITSN1_ENST00000381291.4_Missense_Mutation_p.E588K|ITSN1_ENST00000379960.5_Missense_Mutation_p.E588K|ITSN1_ENST00000399349.1_Missense_Mutation_p.E588K|ITSN1_ENST00000399367.3_Missense_Mutation_p.E588K|ITSN1_ENST00000399352.1_Missense_Mutation_p.E588K|ITSN1_ENST00000399353.1_Missense_Mutation_p.E551K|ITSN1_ENST00000399338.4_Missense_Mutation_p.E588K|ITSN1_ENST00000399355.2_Missense_Mutation_p.E588K|ITSN1_ENST00000399326.3_Missense_Mutation_p.E588K|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Missense_Mutation_p.E588K|ITSN1_ENST00000381285.4_Missense_Mutation_p.E588K	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	588	KLERQ.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CCAACTGGATGAAGTGGAGAA	0.398																																						dbGAP											0													102.0	101.0	101.0					21																	35154375		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.1762G>A	21.37:g.35154375G>A	ENSP00000370719:p.Glu588Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_Ca-dep,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,prints_SH3_domain,prints_p67phox,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.E588K	ENST00000381318.3	37	c.1762	CCDS33545.1	21	.	.	.	.	.	.	.	.	.	.	G	24.4	4.522986	0.85600	.	.	ENSG00000205726	ENST00000399353;ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381288;ENST00000381289;ENST00000399367;ENST00000399352;ENST00000399355;ENST00000399349;ENST00000399338;ENST00000437442;ENST00000399326;ENST00000379960	T;T;T;T;T;T;T;T;T;T;T;T	0.28895	1.59;2.61;2.61;2.61;1.59;1.59;2.61;1.59;1.59;1.59;1.59;1.59	5.83	5.83	0.93111	.	0.054374	0.64402	D	0.000001	T	0.44498	0.1296	L	0.44542	1.39	0.51233	D	0.999919	D;D;B;P;D;P;P;P;P;D	0.69078	0.997;0.972;0.255;0.792;0.983;0.956;0.893;0.893;0.942;0.972	P;P;B;B;P;B;P;P;P;P	0.58660	0.843;0.784;0.104;0.366;0.717;0.275;0.585;0.585;0.832;0.784	T	0.03875	-1.0996	10	0.21540	T	0.41	.	20.1195	0.97955	0.0:0.0:1.0:0.0	.	551;551;551;588;588;588;588;588;588;551	A8D7D0;A7XZY7;A8CTY7;A8CTY3;F8W7U0;E7ERJ1;A8CTX8;Q15811;Q15811-3;E7ERJ0	.;.;.;.;.;.;.;ITSN1_HUMAN;.;.	K	551;588;588;588;588;588;588;588;588;588;588;588;588;588	ENSP00000382290:E551K;ENSP00000370719:E588K;ENSP00000370691:E588K;ENSP00000370685:E588K;ENSP00000382301:E588K;ENSP00000382289:E588K;ENSP00000382292:E588K;ENSP00000382286:E588K;ENSP00000382275:E588K;ENSP00000387377:E588K;ENSP00000382265:E588K;ENSP00000369294:E588K	ENSP00000369294:E588K	E	+	1	0	ITSN1	34076245	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.419000	0.66435	2.759000	0.94783	0.650000	0.86243	GAA	ITSN1	-	NULL	ENSG00000205726		0.398	ITSN1-001	KNOWN	basic|CCDS	protein_coding	ITSN1	HGNC	protein_coding	OTTHUMT00000140070.4	60	0.00	0	G	NM_003024		35154375	35154375	+1	no_errors	ENST00000381285	ensembl	human	known	69_37n	missense	48	22.58	14	SNP	1.000	A
ITSN2	50618	genome.wustl.edu	37	2	24427247	24427247	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:24427247C>G	ENST00000355123.4	-	39	5246	c.4803G>C	c.(4801-4803)caG>caC	p.Q1601H	ITSN2_ENST00000361999.3_Missense_Mutation_p.Q1574H|AC008073.9_ENST00000429717.1_RNA	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1601	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGTGTAGCTCTGGGAGCCCA	0.468																																						dbGAP											0													157.0	149.0	151.0					2																	24427247		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.4803G>C	2.37:g.24427247C>G	ENSP00000347244:p.Gln1601His	Somatic		WXS	Illumina GAIIx	Phase_IV	O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_Ca-dep,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox	p.Q1601H	ENST00000355123.4	37	c.4803	CCDS1710.2	2	.	.	.	.	.	.	.	.	.	.	C	16.44	3.123156	0.56613	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868	T;T;T	0.70516	-0.49;-0.49;-0.49	5.06	4.17	0.49024	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.35555	U	0.003138	T	0.81791	0.4897	M	0.74881	2.28	0.51012	D	0.999907	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.83007	-0.0174	10	0.87932	D	0	.	10.2596	0.43419	0.0:0.8383:0.0:0.1617	.	1574;1601	Q9NZM3-2;Q9NZM3	.;ITSN2_HUMAN	H	1574;1601;1574	ENSP00000354561:Q1574H;ENSP00000347244:Q1601H;ENSP00000370250:Q1574H	ENSP00000347244:Q1601H	Q	-	3	2	ITSN2	24280751	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.506000	0.45433	1.247000	0.43917	0.655000	0.94253	CAG	ITSN2	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	ENSG00000198399		0.468	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ITSN2	HGNC	protein_coding	OTTHUMT00000207620.2	144	0.00	0	C	NM_006277		24427247	24427247	-1	no_errors	ENST00000355123	ensembl	human	known	69_37n	missense	143	17.82	31	SNP	1.000	G
IZUMO4	113177	genome.wustl.edu	37	19	2097473	2097473	+	Missense_Mutation	SNP	A	A	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:2097473A>C	ENST00000395301.3	+	3	413	c.349A>C	c.(349-351)Atc>Ctc	p.I117L	IZUMO4_ENST00000588003.1_3'UTR|IZUMO4_ENST00000395307.2_Missense_Mutation_p.I117L|IZUMO4_ENST00000395296.1_Missense_Mutation_p.I117L|MOB3A_ENST00000357066.3_5'Flank	NM_001039846.1	NP_001034935.1	Q1ZYL8	IZUM4_HUMAN	IZUMO family member 4	117						extracellular region (GO:0005576)|nucleus (GO:0005634)				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	6						GGTGCACCTCATCCAGAACGC	0.607											OREG0025135	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													70.0	64.0	66.0					19																	2097473		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC014609	CCDS35499.1, CCDS42458.1	19p13.3	2014-02-17	2010-07-29	2010-07-29	ENSG00000099840	ENSG00000099840		"""-"""	26950	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 36"""	C19orf36		12975309, 19658160, 22957301	Standard	XM_005259480		Approved		uc002luw.1	Q1ZYL8	OTTHUMG00000141290	ENST00000395301.3:c.349A>C	19.37:g.2097473A>C	ENSP00000378712:p.Ile117Leu	Somatic	9	WXS	Illumina GAIIx	Phase_IV	A7RA93|A7RA94|Q6UXA2|Q96FT6|Q96L02	Missense_Mutation	SNP	NULL	p.I164L	ENST00000395301.3	37	c.490	CCDS42458.1	19	.	.	.	.	.	.	.	.	.	.	A	12.73	2.024813	0.35701	.	.	ENSG00000099840	ENST00000395307;ENST00000300960;ENST00000395296;ENST00000395301	T;T;T;T	0.14893	2.47;2.47;2.47;2.47	3.56	1.33	0.21861	.	0.243802	0.22362	N	0.061067	T	0.08891	0.0220	N	0.14661	0.345	0.29086	N	0.88241	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.004	T	0.16453	-1.0402	10	0.42905	T	0.14	-26.8144	7.6533	0.28360	0.5654:0.4346:0.0:0.0	.	117;117	A7RA93;Q1ZYL8	.;IZUM4_HUMAN	L	164;117;117;117	ENSP00000378718:I164L;ENSP00000300960:I117L;ENSP00000378709:I117L;ENSP00000378712:I117L	ENSP00000300960:I117L	I	+	1	0	IZUMO4	2048473	0.995000	0.38212	0.999000	0.59377	0.938000	0.57974	0.287000	0.18920	0.210000	0.20664	-0.429000	0.05907	ATC	IZUMO4	-	NULL	ENSG00000099840		0.607	IZUMO4-004	KNOWN	basic|CCDS	protein_coding	IZUMO4	HGNC	protein_coding	OTTHUMT00000280536.3	30	0.00	0	A	NM_052878		2097473	2097473	+1	no_errors	ENST00000395307	ensembl	human	known	69_37n	missense	24	14.29	4	SNP	0.999	C
JAGN1	84522	genome.wustl.edu	37	3	9934815	9934815	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:9934815C>G	ENST00000307768.4	+	2	475	c.306C>G	c.(304-306)ctC>ctG	p.L102L		NM_032492.3	NP_115881.3			jagunal homolog 1 (Drosophila)											breast(1)|central_nervous_system(1)|endometrium(4)|lung(3)|ovary(1)	10	Medulloblastoma(99;0.227)					ACCTGGTGCTCTCCATGATCA	0.532																																						dbGAP											0													168.0	127.0	141.0					3																	9934815		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK074760	CCDS2588.1	3p25.2	2010-03-23			ENSG00000171135	ENSG00000171135			26926	protein-coding gene	gene with protein product						12477932	Standard	NM_032492		Approved	GL009, FLJ14602	uc003btt.4	Q8N5M9	OTTHUMG00000128523	ENST00000307768.4:c.306C>G	3.37:g.9934815C>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_DUF1352	p.L102	ENST00000307768.4	37	c.306	CCDS2588.1	3																																																																																			JAGN1	-	pfam_DUF1352	ENSG00000171135		0.532	JAGN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAGN1	HGNC	protein_coding	OTTHUMT00000250335.1	86	0.00	0	C	NM_032492		9934815	9934815	+1	no_errors	ENST00000307768	ensembl	human	known	69_37n	silent	109	44.10	86	SNP	1.000	G
JAK3	3718	genome.wustl.edu	37	19	17937556	17937556	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:17937556G>A	ENST00000527670.1	-	23	3400	c.3371C>T	c.(3370-3372)tCa>tTa	p.S1124L	JAK3_ENST00000458235.1_Missense_Mutation_p.S1124L			P52333	JAK3_HUMAN	Janus kinase 3	1124					B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	CAGGAGCTATGAAAAGGACAG	0.612		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""																																	dbGAP		Dom	yes		19	19p13.1	3718	Janus kinase 3		L	0													163.0	138.0	146.0					19																	17937556		2203	4300	6503	-	-	-	SO:0001583	missense	0			U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.3371C>T	19.37:g.17937556G>A	ENSP00000432511:p.Ser1124Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak3,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom	p.S1124L	ENST00000527670.1	37	c.3371	CCDS12366.1	19	.	.	.	.	.	.	.	.	.	.	G	3.788	-0.044166	0.07452	.	.	ENSG00000105639	ENST00000458235;ENST00000527670	T;T	0.75050	-0.9;-0.9	1.95	-3.2	0.05156	.	.	.	.	.	T	0.50769	0.1635	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33189	-0.9878	9	0.87932	D	0	.	8.0326	0.30474	0.3735:0.0:0.6265:0.0	.	1124	P52333	JAK3_HUMAN	L	1124	ENSP00000391676:S1124L;ENSP00000432511:S1124L	ENSP00000391676:S1124L	S	-	2	0	JAK3	17798556	0.000000	0.05858	0.000000	0.03702	0.101000	0.19017	-2.452000	0.01005	-1.122000	0.02945	-1.328000	0.01277	TCA	JAK3	-	NULL	ENSG00000105639		0.612	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	JAK3	HGNC	protein_coding	OTTHUMT00000385549.1	90	0.00	0	G	NM_000215		17937556	17937556	-1	no_errors	ENST00000458235	ensembl	human	known	69_37n	missense	62	21.52	17	SNP	0.000	A
JAK3	3718	genome.wustl.edu	37	19	17951135	17951135	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:17951135G>A	ENST00000527670.1	-	8	1187	c.1158C>T	c.(1156-1158)atC>atT	p.I386I	JAK3_ENST00000458235.1_Silent_p.I386I|JAK3_ENST00000526008.1_5'UTR|JAK3_ENST00000534444.1_Silent_p.I386I			P52333	JAK3_HUMAN	Janus kinase 3	386	SH2; atypical.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	TGAGCTTGTTGATGGCAAAGT	0.562		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""																																	dbGAP		Dom	yes		19	19p13.1	3718	Janus kinase 3		L	0													51.0	43.0	46.0					19																	17951135		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.1158C>T	19.37:g.17951135G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak3,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom	p.I386	ENST00000527670.1	37	c.1158	CCDS12366.1	19																																																																																			JAK3	-	smart_SH2,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2	ENSG00000105639		0.562	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	JAK3	HGNC	protein_coding	OTTHUMT00000385549.1	34	0.00	0	G	NM_000215		17951135	17951135	-1	no_errors	ENST00000458235	ensembl	human	known	69_37n	silent	23	23.33	7	SNP	0.402	A
JAKMIP1	152789	genome.wustl.edu	37	4	6087285	6087285	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:6087285C>T	ENST00000282924.5	-	4	1181	c.696G>A	c.(694-696)caG>caA	p.Q232Q	JAKMIP1_ENST00000409831.1_Silent_p.Q232Q|JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000410077.2_Silent_p.Q67Q|JAKMIP1_ENST00000409021.3_Silent_p.Q232Q|JAKMIP1_ENST00000409371.3_Silent_p.Q67Q	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	232	Mediates association with microtubules.				cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCTTCTGGGTCTGCCCAGCCT	0.542																																						dbGAP											0													124.0	124.0	124.0					4																	6087285		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.696G>A	4.37:g.6087285C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Silent	SNP	NULL	p.Q232	ENST00000282924.5	37	c.696	CCDS3385.1	4																																																																																			JAKMIP1	-	NULL	ENSG00000152969		0.542	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAKMIP1	HGNC	protein_coding	OTTHUMT00000246816.2	62	0.00	0	C	NM_144720		6087285	6087285	-1	no_errors	ENST00000409021	ensembl	human	known	69_37n	silent	46	23.33	14	SNP	0.999	T
JAKMIP3	282973	genome.wustl.edu	37	10	133976789	133976789	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:133976789C>T	ENST00000298622.4	+	19	2429	c.2291C>T	c.(2290-2292)tCa>tTa	p.S764L	JAKMIP3_ENST00000477275.1_3'UTR	NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	764						Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GAGCTGCTGTCAGAGGAGGAG	0.662																																						dbGAP											0													62.0	46.0	51.0					10																	133976789		2200	4295	6495	-	-	-	SO:0001583	missense	0			AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"""neuroendocrine long coiled-coil 2"""	611198	"""chromosome 10 open reading frame 39"", ""chromosome 10 open reading frame 14"""	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.2291C>T	10.37:g.133976789C>T	ENSP00000298622:p.Ser764Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6PW00|Q69YM6|Q6ZT29	Missense_Mutation	SNP	NULL	p.S764L	ENST00000298622.4	37	c.2291	CCDS44494.1	10	.	.	.	.	.	.	.	.	.	.	C	17.69	3.450788	0.63290	.	.	ENSG00000188385	ENST00000298622	T	0.25749	1.78	3.77	3.77	0.43336	.	.	.	.	.	T	0.26882	0.0658	L	0.59436	1.845	0.33418	D	0.57951	B;B	0.32829	0.386;0.009	B;B	0.31101	0.124;0.015	T	0.38628	-0.9652	9	0.27082	T	0.32	.	16.1886	0.81971	0.0:1.0:0.0:0.0	.	201;764	Q5VZ66-2;Q5VZ66	.;JKIP3_HUMAN	L	764	ENSP00000298622:S764L	ENSP00000298622:S764L	S	+	2	0	JAKMIP3	133826779	0.955000	0.32602	0.318000	0.25279	0.401000	0.30781	2.379000	0.44318	2.102000	0.63906	0.460000	0.39030	TCA	JAKMIP3	-	NULL	ENSG00000188385		0.662	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	JAKMIP3	HGNC	protein_coding	OTTHUMT00000051049.3	31	0.00	0	C	NM_194303		133976789	133976789	+1	no_errors	ENST00000298622	ensembl	human	known	69_37n	missense	18	47.06	16	SNP	0.989	T
JARID2	3720	genome.wustl.edu	37	6	15507634	15507634	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:15507634C>T	ENST00000341776.2	+	11	2962	c.2718C>T	c.(2716-2718)ctC>ctT	p.L906L	JARID2_ENST00000541660.1_Silent_p.L868L|JARID2_ENST00000474854.1_3'UTR|JARID2_ENST00000397311.3_Silent_p.L734L	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	906	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				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)				TGCGTCACCTCGGTGCTGTGC	0.582																																						dbGAP											0													139.0	116.0	124.0					6																	15507634		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			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.2718C>T	6.37:g.15507634C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Silent	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.L906	ENST00000341776.2	37	c.2718	CCDS4533.1	6																																																																																			JARID2	-	smart_JmjC_dom,pfscan_JmjC_dom	ENSG00000008083		0.582	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	JARID2	HGNC	protein_coding	OTTHUMT00000039926.1	70	0.00	0	C	NM_004973		15507634	15507634	+1	no_errors	ENST00000341776	ensembl	human	known	69_37n	silent	48	28.36	19	SNP	1.000	T
KDM7A	80853	genome.wustl.edu	37	7	139799810	139799810	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:139799810G>C	ENST00000397560.2	-	13	1749	c.1652C>G	c.(1651-1653)tCt>tGt	p.S551C	JHDM1D_ENST00000006967.5_Missense_Mutation_p.S551C	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7A_HUMAN		551					histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|midbrain development (GO:0030901)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|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)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					ATTCAGTTTAGAGCTCAAGAT	0.438																																						dbGAP											0													232.0	203.0	212.0					7																	139799810		1928	4133	6061	-	-	-	SO:0001583	missense	0																														ENST00000397560.2:c.1652C>G	7.37:g.139799810G>C	ENSP00000380692:p.Ser551Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1S9|C9JJH9|C9JQU2|Q6MZL8|Q9C0E5	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger	p.S551C	ENST00000397560.2	37	c.1652	CCDS43658.1	7	.	.	.	.	.	.	.	.	.	.	G	18.21	3.572715	0.65765	.	.	ENSG00000006459	ENST00000397560;ENST00000006967	T;T	0.52983	0.64;0.64	5.55	5.55	0.83447	.	0.421699	0.25765	N	0.028449	T	0.53126	0.1777	L	0.60455	1.87	0.42761	D	0.993801	D	0.63880	0.993	P	0.49999	0.628	T	0.55082	-0.8196	10	0.52906	T	0.07	-16.8856	13.345	0.60566	0.0:0.0:0.7248:0.2751	.	551	Q6ZMT4	KDM7_HUMAN	C	551	ENSP00000380692:S551C;ENSP00000006967:S551C	ENSP00000006967:S551C	S	-	2	0	JHDM1D	139446279	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.037000	0.57311	2.770000	0.95276	0.557000	0.71058	TCT	JHDM1D	-	NULL	ENSG00000006459		0.438	JHDM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JHDM1D	HGNC	protein_coding	OTTHUMT00000348460.1	215	0.00	0	G			139799810	139799810	-1	no_errors	ENST00000397560	ensembl	human	known	69_37n	missense	120	34.07	62	SNP	0.999	C
JMJD8	339123	genome.wustl.edu	37	16	733406	733406	+	Missense_Mutation	SNP	C	C	T	rs566921908		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:733406C>T	ENST00000293882.4	-	6	636	c.637G>A	c.(637-639)Gag>Aag	p.E213K	JMJD8_ENST00000412368.2_Missense_Mutation_p.E164K|JMJD8_ENST00000562824.1_Missense_Mutation_p.E113K|JMJD8_ENST00000562111.1_Missense_Mutation_p.E143K|JMJD8_ENST00000454700.1_Missense_Mutation_p.E183K|JMJD8_ENST00000609261.1_Missense_Mutation_p.E143K			Q96S16	JMJD8_HUMAN	jumonji domain containing 8	213	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.					extracellular vesicular exosome (GO:0070062)				breast(1)	1						GAGGCCCACTCGGTGAAGTTG	0.612																																						dbGAP											0													39.0	46.0	44.0					16																	733406		1958	4090	6048	-	-	-	SO:0001583	missense	0				CCDS45369.1	16p13.3	2008-07-28	2008-07-28	2008-07-28		ENSG00000161999			14148	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 20"""	C16orf20			Standard	NM_001005920		Approved		uc002ciw.1	Q96S16		ENST00000293882.4:c.637G>A	16.37:g.733406C>T	ENSP00000293882:p.Glu213Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNS7|D3DU58|Q4PKE3|Q4VBY1|Q6GMW5|Q71RB8	Missense_Mutation	SNP	pfam_JmjC_dom,pfscan_JmjC_dom	p.E213K	ENST00000293882.4	37	c.637		16	.	.	.	.	.	.	.	.	.	.	C	15.49	2.849276	0.51270	.	.	ENSG00000161999	ENST00000412368;ENST00000293882;ENST00000454700	T;T;T	0.24151	1.87;1.87;1.87	3.89	2.94	0.34122	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.058805	0.64402	D	0.000004	T	0.33147	0.0853	L	0.35341	1.055	0.46458	D	0.999055	D;D	0.76494	0.996;0.999	P;D	0.62955	0.852;0.909	T	0.03259	-1.1055	10	0.49607	T	0.09	-12.7261	10.1832	0.42982	0.0:0.9001:0.0:0.0999	.	183;213	Q96S16-2;Q96S16	.;JMJD8_HUMAN	K	164;213;183	ENSP00000399475:E164K;ENSP00000293882:E213K;ENSP00000394147:E183K	ENSP00000293882:E213K	E	-	1	0	JMJD8	673407	1.000000	0.71417	0.826000	0.32828	0.022000	0.10575	6.993000	0.76245	0.866000	0.35629	-0.136000	0.14681	GAG	JMJD8	-	pfscan_JmjC_dom	ENSG00000161999		0.612	JMJD8-201	KNOWN	basic	protein_coding	JMJD8	HGNC	protein_coding		47	0.00	0	C	NM_001005920		733406	733406	-1	no_errors	ENST00000293882	ensembl	human	known	69_37n	missense	52	14.75	9	SNP	0.997	T
JRKL	8690	genome.wustl.edu	37	11	96125259	96125259	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:96125259C>G	ENST00000332349.4	+	2	1693	c.1446C>G	c.(1444-1446)ctC>ctG	p.L482L	JRKL_ENST00000458427.1_Silent_p.L482L|CCDC82_ENST00000542662.1_5'Flank|CCDC82_ENST00000525786.1_5'Flank|JRKL_ENST00000546177.1_Intron	NM_001261833.1	NP_001248762.1	Q9Y4A0	JERKL_HUMAN	JRK-like	482					central nervous system development (GO:0007417)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)		BRCA - Breast invasive adenocarcinoma(274;0.148)		CAGCTGCCCTCCAGTGGACTG	0.398																																						dbGAP											0													55.0	46.0	49.0					11																	96125259		2201	4298	6499	-	-	-	SO:0001819	synonymous_variant	0			AF004715	CCDS8308.1	11q21	2014-03-28	2014-03-28		ENSG00000183340	ENSG00000183340			6200	protein-coding gene	gene with protein product		603211	"""erky (mouse) homolog-like"", ""jerky homolog-like (mouse)"""			9240447	Standard	NM_003772		Approved	HHMJG	uc009ywu.4	Q9Y4A0	OTTHUMG00000154950	ENST00000332349.4:c.1446C>G	11.37:g.96125259C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3G4|B2RAJ3|Q32MC2	Silent	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.L482	ENST00000332349.4	37	c.1446	CCDS8308.1	11																																																																																			JRKL	-	NULL	ENSG00000183340		0.398	JRKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JRKL	HGNC	protein_coding	OTTHUMT00000337775.2	21	0.00	0	C	NM_003772		96125259	96125259	+1	no_errors	ENST00000332349	ensembl	human	known	69_37n	silent	13	48.00	12	SNP	0.996	G
KALRN	8997	genome.wustl.edu	37	3	124160830	124160830	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:124160830C>G	ENST00000240874.3	+	19	3388	c.3231C>G	c.(3229-3231)ctC>ctG	p.L1077L	KALRN_ENST00000360013.3_Silent_p.L1077L|KALRN_ENST00000460856.1_Silent_p.L1068L	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1077					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGGTGTTTCTCAAGTACATCC	0.577																																						dbGAP											0													65.0	59.0	61.0					3																	124160830		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.3231C>G	3.37:g.124160830C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Nonsense_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_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.S1046*	ENST00000240874.3	37	c.3137	CCDS3027.1	3	.	.	.	.	.	.	.	.	.	.	C	9.325	1.059115	0.19987	.	.	ENSG00000160145	ENST00000354186	.	.	.	5.22	2.24	0.28232	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1578	0.86796	0.0:0.535:0.465:0.0	.	.	.	.	X	1046	.	.	S	+	2	0	KALRN	125643520	0.996000	0.38824	1.000000	0.80357	0.993000	0.82548	0.221000	0.17680	0.875000	0.35847	-0.182000	0.12963	TCA	KALRN	-	NULL	ENSG00000160145		0.577	KALRN-005	KNOWN	basic|CCDS	protein_coding	KALRN	HGNC	protein_coding	OTTHUMT00000258843.4	34	0.00	0	C	NM_003947		124160830	124160830	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000354186	ensembl	human	novel	69_37n	nonsense	26	23.53	8	SNP	1.000	G
KALRN	8997	genome.wustl.edu	37	3	124281710	124281710	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:124281710G>A	ENST00000393496.1	+	2	233	c.69G>A	c.(67-69)ctG>ctA	p.L23L	KALRN_ENST00000360013.3_Silent_p.L1650L			O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1650					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GATGTGAGCTGACAGTGGTCC	0.622																																						dbGAP											0													24.0	26.0	25.0					3																	124281710		2032	4205	6237	-	-	-	SO:0001819	synonymous_variant	0			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000393496.1:c.69G>A	3.37:g.124281710G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Silent	SNP	pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.L1650	ENST00000393496.1	37	c.4950		3																																																																																			KALRN	-	superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000160145		0.622	KALRN-002	NOVEL	basic	protein_coding	KALRN	HGNC	protein_coding	OTTHUMT00000258840.2	39	0.00	0	G	NM_003947		124281710	124281710	+1	no_errors	ENST00000360013	ensembl	human	known	69_37n	silent	63	17.11	13	SNP	1.000	A
KANK1	23189	genome.wustl.edu	37	9	713021	713021	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:713021C>T	ENST00000382303.1	+	7	2907	c.2255C>T	c.(2254-2256)tCa>tTa	p.S752L	KANK1_ENST00000382297.2_Missense_Mutation_p.S752L|KANK1_ENST00000382293.3_Missense_Mutation_p.S594L|KANK1_ENST00000489369.1_3'UTR	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	752					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		GACAGGCCATCAGCTGTGAAG	0.502																																						dbGAP											0													104.0	100.0	101.0					9																	713021		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.2255C>T	9.37:g.713021C>T	ENSP00000371740:p.Ser752Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S752L	ENST00000382303.1	37	c.2255	CCDS34976.1	9	.	.	.	.	.	.	.	.	.	.	C	20.7	4.030103	0.75504	.	.	ENSG00000107104	ENST00000382303;ENST00000354485;ENST00000382297;ENST00000382293	T;T;T	0.16196	2.36;2.36;2.36	5.97	5.06	0.68205	.	0.137467	0.33691	N	0.004647	T	0.26376	0.0644	M	0.66939	2.045	0.80722	D	1	P;P	0.38335	0.627;0.485	B;B	0.40477	0.33;0.219	T	0.04178	-1.0971	10	0.72032	D	0.01	-3.2709	16.8739	0.86046	0.0:0.8676:0.1324:0.0	.	752;752	Q5W0W1;Q14678	.;KANK1_HUMAN	L	752;752;752;594	ENSP00000371740:S752L;ENSP00000371734:S752L;ENSP00000371730:S594L	ENSP00000346479:S752L	S	+	2	0	KANK1	703021	0.000000	0.05858	0.608000	0.28969	0.986000	0.74619	1.033000	0.30191	1.495000	0.48549	0.655000	0.94253	TCA	KANK1	-	NULL	ENSG00000107104		0.502	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KANK1	HGNC	protein_coding	OTTHUMT00000051484.2	71	0.00	0	C	NM_015158		713021	713021	+1	no_errors	ENST00000382297	ensembl	human	known	69_37n	missense	135	16.15	26	SNP	0.989	T
KANSL2	54934	genome.wustl.edu	37	12	49073592	49073592	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:49073592G>A	ENST00000420613.2	-	3	323	c.276C>T	c.(274-276)gtC>gtT	p.V92V	KANSL2_ENST00000357861.3_5'UTR|KANSL2_ENST00000550347.1_Silent_p.V275V|KANSL2_ENST00000553086.1_Silent_p.V92V	NM_017822.3	NP_060292.3	Q9H9L4	KANL2_HUMAN	KAT8 regulatory NSL complex subunit 2	92					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)											CATTCCTACGGACATGTTCAG	0.443																																						dbGAP											0													42.0	41.0	41.0					12																	49073592		1882	4120	6002	-	-	-	SO:0001819	synonymous_variant	0			AK094528	CCDS44869.1	12q13.11	2011-10-31	2011-10-31	2011-10-31	ENSG00000139620	ENSG00000139620			26024	protein-coding gene	gene with protein product		615488	"""chromosome 12 open reading frame 41"""	C12orf41		12477932	Standard	NM_017822		Approved	FLJ20436, NSL2	uc001rrz.2	Q9H9L4	OTTHUMG00000170392	ENST00000420613.2:c.276C>T	12.37:g.49073592G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N3B5|Q96CV0|Q9NX51	Missense_Mutation	SNP	NULL	p.S85F	ENST00000420613.2	37	c.254	CCDS44869.1	12																																																																																			KANSL2	-	NULL	ENSG00000139620		0.443	KANSL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KANSL2	HGNC	protein_coding	OTTHUMT00000408841.1	70	0.00	0	G	NM_017822		49073592	49073592	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000549574	ensembl	human	known	69_37n	missense	72	20.88	19	SNP	0.978	A
KAT2B	8850	genome.wustl.edu	37	3	20156413	20156413	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:20156413C>G	ENST00000263754.4	+	7	1538	c.1083C>G	c.(1081-1083)aaC>aaG	p.N361K		NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	361					cell cycle arrest (GO:0007050)|cellular response to insulin stimulus (GO:0032869)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|histone H3-K9 acetylation (GO:0043970)|internal peptidyl-lysine acetylation (GO:0018393)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|Notch signaling pathway (GO:0007219)|peptidyl-lysine acetylation (GO:0018394)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein acetylation (GO:0006473)|regulation of protein ADP-ribosylation (GO:0010835)|rhythmic process (GO:0048511)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	A band (GO:0031672)|actomyosin (GO:0042641)|Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|I band (GO:0031674)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	acetyltransferase activity (GO:0016407)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|histone acetyltransferase activity (GO:0004402)|histone deacetylase binding (GO:0042826)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						ATAGTCAAAACTCTCCCATCT	0.388																																						dbGAP											0													90.0	94.0	92.0					3																	20156413		2203	4300	6503	-	-	-	SO:0001583	missense	0			U57316	CCDS2634.1	3p24	2011-07-01	2008-07-04	2008-07-04	ENSG00000114166	ENSG00000114166		"""Chromatin-modifying enzymes / K-acetyltransferases"""	8638	protein-coding gene	gene with protein product		602303	"""p300/CBP-associated factor"""	PCAF		8684459, 9722949	Standard	NM_003884		Approved	P/CAF, GCN5, GCN5L	uc003cbq.3	Q92831	OTTHUMG00000130481	ENST00000263754.4:c.1083C>G	3.37:g.20156413C>G	ENSP00000263754:p.Asn361Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NSK1	Missense_Mutation	SNP	pirsf_Hist_acetylase_PCAF,pfam_PCAF_N,pfam_Bromodomain,pfam_GNAT_dom,superfamily_Bromodomain,superfamily_Acyl_CoA_acyltransferase,smart_Bromodomain,pfscan_Bromodomain,pfscan_GNAT_dom,prints_Bromodomain	p.N361K	ENST00000263754.4	37	c.1083	CCDS2634.1	3	.	.	.	.	.	.	.	.	.	.	C	14.70	2.612648	0.46631	.	.	ENSG00000114166	ENST00000263754	T	0.20598	2.06	5.08	4.19	0.49359	.	0.090044	0.85682	D	0.000000	T	0.28566	0.0707	M	0.76170	2.325	0.58432	D	0.999999	B	0.31174	0.311	B	0.35813	0.211	T	0.10064	-1.0646	10	0.72032	D	0.01	-26.4222	11.1629	0.48526	0.0:0.8348:0.0:0.1652	.	361	Q92831	KAT2B_HUMAN	K	361	ENSP00000263754:N361K	ENSP00000263754:N361K	N	+	3	2	KAT2B	20131417	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.502000	0.35704	1.236000	0.43740	0.448000	0.29417	AAC	KAT2B	-	pirsf_Hist_acetylase_PCAF	ENSG00000114166		0.388	KAT2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAT2B	HGNC	protein_coding	OTTHUMT00000252880.1	129	0.00	0	C	NM_003884		20156413	20156413	+1	no_errors	ENST00000263754	ensembl	human	known	69_37n	missense	127	14.19	21	SNP	1.000	G
KAT2B	8850	genome.wustl.edu	37	3	20168996	20168996	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:20168996C>T	ENST00000263754.4	+	11	2159	c.1704C>T	c.(1702-1704)ttC>ttT	p.F568F		NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	568	N-acetyltransferase. {ECO:0000250|UniProtKB:Q92830, ECO:0000255|PROSITE-ProRule:PRU00532}.				cell cycle arrest (GO:0007050)|cellular response to insulin stimulus (GO:0032869)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|histone H3-K9 acetylation (GO:0043970)|internal peptidyl-lysine acetylation (GO:0018393)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|Notch signaling pathway (GO:0007219)|peptidyl-lysine acetylation (GO:0018394)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein acetylation (GO:0006473)|regulation of protein ADP-ribosylation (GO:0010835)|rhythmic process (GO:0048511)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	A band (GO:0031672)|actomyosin (GO:0042641)|Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|I band (GO:0031674)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	acetyltransferase activity (GO:0016407)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|histone acetyltransferase activity (GO:0004402)|histone deacetylase binding (GO:0042826)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						CTCAAGGATTCACAGAGATTG	0.408																																						dbGAP											0													210.0	187.0	195.0					3																	20168996		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U57316	CCDS2634.1	3p24	2011-07-01	2008-07-04	2008-07-04	ENSG00000114166	ENSG00000114166		"""Chromatin-modifying enzymes / K-acetyltransferases"""	8638	protein-coding gene	gene with protein product		602303	"""p300/CBP-associated factor"""	PCAF		8684459, 9722949	Standard	NM_003884		Approved	P/CAF, GCN5, GCN5L	uc003cbq.3	Q92831	OTTHUMG00000130481	ENST00000263754.4:c.1704C>T	3.37:g.20168996C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NSK1	Silent	SNP	pirsf_Hist_acetylase_PCAF,pfam_PCAF_N,pfam_Bromodomain,pfam_GNAT_dom,superfamily_Bromodomain,superfamily_Acyl_CoA_acyltransferase,smart_Bromodomain,pfscan_Bromodomain,pfscan_GNAT_dom,prints_Bromodomain	p.F568	ENST00000263754.4	37	c.1704	CCDS2634.1	3																																																																																			KAT2B	-	pirsf_Hist_acetylase_PCAF,pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	ENSG00000114166		0.408	KAT2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAT2B	HGNC	protein_coding	OTTHUMT00000252880.1	202	0.00	0	C	NM_003884		20168996	20168996	+1	no_errors	ENST00000263754	ensembl	human	known	69_37n	silent	266	16.09	51	SNP	1.000	T
KAT6A	7994	genome.wustl.edu	37	8	41834588	41834588	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:41834588G>C	ENST00000396930.3	-	8	1844	c.1301C>G	c.(1300-1302)tCt>tGt	p.S434C	KAT6A_ENST00000406337.1_Missense_Mutation_p.S434C|KAT6A_ENST00000265713.2_Missense_Mutation_p.S434C|KAT6A_ENST00000485568.1_Missense_Mutation_p.S434C	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	434	Interaction with PML.|Interaction with RUNX1-1.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										ATATTGCTCAGAGTAGTCCAC	0.448																																						dbGAP											0													132.0	126.0	128.0					8																	41834588		2203	4300	6503	-	-	-	SO:0001583	missense	0			U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.1301C>G	8.37:g.41834588G>C	ENSP00000380136:p.Ser434Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q76L81	Missense_Mutation	SNP	pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.S434C	ENST00000396930.3	37	c.1301	CCDS6124.1	8	.	.	.	.	.	.	.	.	.	.	G	15.41	2.826044	0.50739	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000485568	T;T;T;D	0.86366	-0.14;-0.14;-0.14;-2.11	5.37	5.37	0.77165	.	0.167173	0.42821	D	0.000647	D	0.92208	0.7529	L	0.53249	1.67	0.53005	D	0.999969	D;D	0.89917	0.997;1.0	P;D	0.83275	0.781;0.996	D	0.92188	0.5757	10	0.54805	T	0.06	-5.8376	19.1629	0.93541	0.0:0.0:1.0:0.0	.	434;434	A5PLL3;Q92794	.;KAT6A_HUMAN	C	434	ENSP00000265713:S434C;ENSP00000385888:S434C;ENSP00000380136:S434C;ENSP00000430606:S434C	ENSP00000265713:S434C	S	-	2	0	KAT6A	41953745	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.397000	0.97276	2.515000	0.84797	0.650000	0.86243	TCT	KAT6A	-	NULL	ENSG00000083168		0.448	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KAT6A	HGNC	protein_coding	OTTHUMT00000318163.1	190	0.00	0	G	NM_006766		41834588	41834588	-1	no_errors	ENST00000265713	ensembl	human	known	69_37n	missense	88	40.94	61	SNP	1.000	C
KAT7	11143	genome.wustl.edu	37	17	47869366	47869366	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:47869366C>T	ENST00000259021.4	+	2	414	c.134C>T	c.(133-135)tCc>tTc	p.S45F	KAT7_ENST00000503935.2_5'UTR|KAT7_ENST00000435742.2_5'UTR|KAT7_ENST00000424009.2_Missense_Mutation_p.S45F|KAT7_ENST00000510819.1_Missense_Mutation_p.S45F|KAT7_ENST00000509773.1_Missense_Mutation_p.S45F|KAT7_ENST00000454930.2_Missense_Mutation_p.S45F	NM_007067.4	NP_008998.1	O95251	KAT7_HUMAN	K(lysine) acetyltransferase 7	45	Ser-rich.				chromatin organization (GO:0006325)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|histone H4-K12 acetylation (GO:0043983)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										GTCACCCGCTCCTCAGCCAGG	0.478																																						dbGAP											0													94.0	89.0	90.0					17																	47869366		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF074606	CCDS11554.1, CCDS56035.1, CCDS56036.1, CCDS56037.1, CCDS56038.1	17q21.32	2013-01-10	2011-07-21	2011-07-21	ENSG00000136504	ENSG00000136504	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	17016	protein-coding gene	gene with protein product	"""histone acetyltransferase binding to ORC1"""	609880	"""MYST histone acetyltransferase 2"""	MYST2		10438470, 10930412	Standard	NM_001199155		Approved	HBOA, HBO1, ZC2HC7	uc002ipm.3	O95251	OTTHUMG00000161770	ENST00000259021.4:c.134C>T	17.37:g.47869366C>T	ENSP00000259021:p.Ser45Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KN74|B4DF85|B4DFB4|B4DFE0|B4DGY4|E7ER15|G5E9K7	Missense_Mutation	SNP	pfam_MOZ_SAS,pfam_Znf_C2HC,superfamily_Acyl_CoA_acyltransferase	p.S45F	ENST00000259021.4	37	c.134	CCDS11554.1	17	.	.	.	.	.	.	.	.	.	.	C	29.5	5.009290	0.93346	.	.	ENSG00000136504	ENST00000259021;ENST00000454930;ENST00000509773;ENST00000510819;ENST00000424009	.	.	.	5.82	5.82	0.92795	.	0.054043	0.85682	D	0.000000	T	0.56171	0.1967	L	0.29908	0.895	0.80722	D	1	P;P;P;P;P	0.41569	0.61;0.736;0.61;0.641;0.755	B;B;B;B;P	0.44990	0.248;0.352;0.352;0.276;0.466	T	0.57545	-0.7793	9	0.56958	D	0.05	-11.6835	19.7556	0.96287	0.0:1.0:0.0:0.0	.	45;45;45;45;45	B4DFE0;B4DFB4;E7ER15;O95251;G5E9K7	.;.;.;KAT7_HUMAN;.	F	45	.	ENSP00000259021:S45F	S	+	2	0	KAT7	45224365	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.466000	0.80914	2.772000	0.95346	0.650000	0.86243	TCC	KAT7	-	NULL	ENSG00000136504		0.478	KAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAT7	HGNC	protein_coding	OTTHUMT00000366032.1	58	0.00	0	C	NM_007067		47869366	47869366	+1	no_errors	ENST00000259021	ensembl	human	known	69_37n	missense	63	18.18	14	SNP	1.000	T
KAT7	11143	genome.wustl.edu	37	17	47904059	47904059	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:47904059C>G	ENST00000259021.4	+	14	1912	c.1632C>G	c.(1630-1632)atC>atG	p.I544M	KAT7_ENST00000503935.2_Missense_Mutation_p.I388M|KAT7_ENST00000435742.2_Missense_Mutation_p.I358M|KAT7_ENST00000424009.2_Missense_Mutation_p.I514M|KAT7_ENST00000513980.1_3'UTR|KAT7_ENST00000510819.1_Missense_Mutation_p.I375M|KAT7_ENST00000509773.1_Missense_Mutation_p.I434M|KAT7_ENST00000454930.2_Missense_Mutation_p.I405M	NM_007067.4	NP_008998.1	O95251	KAT7_HUMAN	K(lysine) acetyltransferase 7	544	MYST-type HAT.				chromatin organization (GO:0006325)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|histone H4-K12 acetylation (GO:0043983)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										TTTCAGAAATCAGTCAGGAGA	0.468																																						dbGAP											0													123.0	114.0	117.0					17																	47904059		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF074606	CCDS11554.1, CCDS56035.1, CCDS56036.1, CCDS56037.1, CCDS56038.1	17q21.32	2013-01-10	2011-07-21	2011-07-21	ENSG00000136504	ENSG00000136504	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	17016	protein-coding gene	gene with protein product	"""histone acetyltransferase binding to ORC1"""	609880	"""MYST histone acetyltransferase 2"""	MYST2		10438470, 10930412	Standard	NM_001199155		Approved	HBOA, HBO1, ZC2HC7	uc002ipm.3	O95251	OTTHUMG00000161770	ENST00000259021.4:c.1632C>G	17.37:g.47904059C>G	ENSP00000259021:p.Ile544Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KN74|B4DF85|B4DFB4|B4DFE0|B4DGY4|E7ER15|G5E9K7	Missense_Mutation	SNP	pfam_MOZ_SAS,pfam_Znf_C2HC,superfamily_Acyl_CoA_acyltransferase	p.I544M	ENST00000259021.4	37	c.1632	CCDS11554.1	17	.	.	.	.	.	.	.	.	.	.	C	17.82	3.484158	0.63962	.	.	ENSG00000136504	ENST00000259021;ENST00000454930;ENST00000509773;ENST00000510819;ENST00000424009;ENST00000503935;ENST00000435742	.	.	.	5.51	-2.45	0.06481	.	0.000000	0.85682	D	0.000000	T	0.65575	0.2704	M	0.70842	2.15	0.51767	D	0.999934	D;P;D;D;D	0.69078	0.993;0.769;0.99;0.978;0.997	D;P;D;D;D	0.67103	0.929;0.618;0.93;0.926;0.949	T	0.64601	-0.6369	9	0.87932	D	0	-15.3659	6.8176	0.23839	0.2691:0.5323:0.0:0.1986	.	507;375;434;405;544	B4DGY4;B4DFE0;B4DFB4;E7ER15;O95251	.;.;.;.;KAT7_HUMAN	M	544;405;434;375;514;388;358	.	ENSP00000259021:I544M	I	+	3	3	KAT7	45259058	0.998000	0.40836	0.992000	0.48379	0.982000	0.71751	0.567000	0.23608	-0.336000	0.08438	0.561000	0.74099	ATC	KAT7	-	pfam_MOZ_SAS,superfamily_Acyl_CoA_acyltransferase	ENSG00000136504		0.468	KAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAT7	HGNC	protein_coding	OTTHUMT00000366032.1	61	0.00	0	C	NM_007067		47904059	47904059	+1	no_errors	ENST00000259021	ensembl	human	known	69_37n	missense	62	20.51	16	SNP	0.997	G
KATNAL1	84056	genome.wustl.edu	37	13	30857771	30857771	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr13:30857771G>C	ENST00000380615.3	-	2	311	c.144C>G	c.(142-144)atC>atG	p.I48M	RNU6-64P_ENST00000517119.1_RNA|KATNAL1_ENST00000380617.3_Missense_Mutation_p.I48M	NM_032116.4	NP_115492.1			katanin p60 subunit A-like 1											autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		ATTTGCCTTTGATAGCTGGAT	0.393																																						dbGAP											0													243.0	219.0	227.0					13																	30857771		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK097423	CCDS31956.1	13q12.3	2010-04-21			ENSG00000102781	ENSG00000102781		"""ATPases / AAA-type"""	28361	protein-coding gene	gene with protein product		614764				12477932	Standard	NM_001014380		Approved	MGC2599	uc001uss.4	Q9BW62	OTTHUMG00000016665	ENST00000380615.3:c.144C>G	13.37:g.30857771G>C	ENSP00000369989:p.Ile48Met	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_AAA-2,smart_AAA+_ATPase	p.I48M	ENST00000380615.3	37	c.144	CCDS31956.1	13	.	.	.	.	.	.	.	.	.	.	G	6.886	0.532990	0.13188	.	.	ENSG00000102781	ENST00000380615;ENST00000380617;ENST00000414289;ENST00000441394	T;T;T;T	0.22134	1.97;1.97;1.97;1.97	5.37	3.56	0.40772	.	0.571831	0.18784	N	0.131252	T	0.11580	0.0282	N	0.19112	0.55	0.29361	N	0.864651	B	0.15141	0.012	B	0.19391	0.025	T	0.09228	-1.0684	10	0.46703	T	0.11	-0.7885	2.8055	0.05426	0.1256:0.3869:0.3323:0.1551	.	48	Q9BW62	KATL1_HUMAN	M	48	ENSP00000369989:I48M;ENSP00000369991:I48M;ENSP00000397776:I48M;ENSP00000407792:I48M	ENSP00000369989:I48M	I	-	3	3	KATNAL1	29755771	0.994000	0.37717	0.972000	0.41901	0.783000	0.44284	0.294000	0.19047	1.296000	0.44742	0.591000	0.81541	ATC	KATNAL1	-	NULL	ENSG00000102781		0.393	KATNAL1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KATNAL1	HGNC	protein_coding	OTTHUMT00000044346.2	146	0.00	0	G	NM_032116		30857771	30857771	-1	no_errors	ENST00000380615	ensembl	human	known	69_37n	missense	57	56.49	74	SNP	0.950	C
KBTBD12	166348	genome.wustl.edu	37	3	127642770	127642770	+	Nonsense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:127642770C>G	ENST00000405109.1	+	2	1333	c.866C>G	c.(865-867)tCa>tGa	p.S289*	KBTBD12_ENST00000407609.3_Intron|KBTBD12_ENST00000343941.4_Intron|KBTBD12_ENST00000405256.1_Nonsense_Mutation_p.S289*			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	289										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						GGAATCAGATCAAGACATAGG	0.448																																						dbGAP											0													136.0	129.0	131.0					3																	127642770		1927	4127	6054	-	-	-	SO:0001587	stop_gained	0				CCDS33848.2	3q21.3	2013-01-08	2009-10-01	2009-10-01	ENSG00000187715	ENSG00000187715		"""BTB/POZ domain containing"""	25731	protein-coding gene	gene with protein product			"""kelch domain containing 6"""	KLHDC6			Standard	NM_207335		Approved	FLJ46299	uc010hsr.3	Q3ZCT8	OTTHUMG00000150508	ENST00000405109.1:c.866C>G	3.37:g.127642770C>G	ENSP00000385957:p.Ser289*	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MCC6|Q6ZRK1	Nonsense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,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.S289*	ENST00000405109.1	37	c.866	CCDS33848.2	3	.	.	.	.	.	.	.	.	.	.	C	37	6.486339	0.97607	.	.	ENSG00000187715	ENST00000405109;ENST00000405256	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	19.6946	0.96021	0.0:1.0:0.0:0.0	.	.	.	.	X	289	.	ENSP00000385957:S289X	S	+	2	0	KBTBD12	129125460	1.000000	0.71417	0.877000	0.34402	0.992000	0.81027	7.445000	0.80570	2.734000	0.93682	0.585000	0.79938	TCA	KBTBD12	-	pirsf_Kelch-like_gigaxonin	ENSG00000187715		0.448	KBTBD12-006	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD12	HGNC	protein_coding	OTTHUMT00000318682.1	96	0.00	0	C	NM_207335		127642770	127642770	+1	no_errors	ENST00000405109	ensembl	human	known	69_37n	nonsense	96	12.73	14	SNP	1.000	G
KBTBD4	55709	genome.wustl.edu	37	11	47594846	47594846	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:47594846C>T	ENST00000526005.1	-	4	1346	c.1193G>A	c.(1192-1194)cGa>cAa	p.R398Q	KBTBD4_ENST00000395288.2_Missense_Mutation_p.R398Q|NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000430070.2_Missense_Mutation_p.R414Q|KBTBD4_ENST00000533290.1_Missense_Mutation_p.R423Q|PTPMT1_ENST00000527079.2_3'UTR			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	398										NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						CTGGATGAGTCGGGAAGGTTT	0.537																																						dbGAP											0													150.0	135.0	140.0					11																	47594846		2201	4298	6499	-	-	-	SO:0001583	missense	0			AF151086	CCDS7940.1, CCDS44594.1	11p11.2	2013-01-08	2003-12-12	2003-12-17	ENSG00000123444	ENSG00000123444		"""BTB/POZ domain containing"""	23761	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 4"""	BKLHD4		11042152	Standard	NM_018095		Approved	FLJ10450, HSPC252	uc001nfz.3	Q9NVX7	OTTHUMG00000166894	ENST00000526005.1:c.1193G>A	11.37:g.47594846C>T	ENSP00000433340:p.Arg398Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DQS1|D3DQS2|Q6IA85|Q9BUC3|Q9NV76	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like	p.R414Q	ENST00000526005.1	37	c.1241	CCDS7940.1	11	.	.	.	.	.	.	.	.	.	.	C	26.6	4.748847	0.89753	.	.	ENSG00000123444	ENST00000526005;ENST00000533290;ENST00000395288;ENST00000430070	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	5.8	5.8	0.92144	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.75443	0.3850	L	0.34521	1.04	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.71870	0.975;0.945;0.96	T	0.74931	-0.3496	10	0.49607	T	0.09	-4.9893	20.0479	0.97616	0.0:1.0:0.0:0.0	.	414;398;423	Q9NVX7-2;Q9NVX7;B3KRH9	.;KBTB4_HUMAN;.	Q	398;423;398;414	ENSP00000433340:R398Q;ENSP00000436713:R423Q;ENSP00000378703:R398Q;ENSP00000415106:R414Q	ENSP00000378703:R398Q	R	-	2	0	KBTBD4	47551422	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.736000	0.93811	0.563000	0.77884	CGA	KBTBD4	-	NULL	ENSG00000123444		0.537	KBTBD4-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	KBTBD4	HGNC	protein_coding	OTTHUMT00000391763.1	79	0.00	0	C	NM_016506		47594846	47594846	-1	no_errors	ENST00000430070	ensembl	human	known	69_37n	missense	104	13.33	16	SNP	1.000	T
KBTBD8	84541	genome.wustl.edu	37	3	67054247	67054247	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:67054247G>A	ENST00000417314.2	+	3	905	c.856G>A	c.(856-858)Gaa>Aaa	p.E286K	KBTBD8_ENST00000295568.4_Missense_Mutation_p.E260K|KBTBD8_ENST00000469661.1_3'UTR|KBTBD8_ENST00000460576.1_Intron			Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	286						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		GACTGCTTCTGAAATGATCAT	0.433																																						dbGAP											0													109.0	106.0	107.0					3																	67054247		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF385438	CCDS2906.1, CCDS2906.2	3p14	2013-01-08			ENSG00000163376	ENSG00000163376		"""BTB/POZ domain containing"""	30691	protein-coding gene	gene with protein product	"""T-cell activation kelch repeat protein"""					11347906	Standard	NM_032505		Approved	TA-KRP, KIAA1842	uc003dmy.3	Q8NFY9	OTTHUMG00000158779	ENST00000417314.2:c.856G>A	3.37:g.67054247G>A	ENSP00000401878:p.Glu286Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DTW6|Q96JI5	Missense_Mutation	SNP	pfam_BACK,pfam_BTB_POZ,pfam_Kelch_1,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.E286K	ENST00000417314.2	37	c.856	CCDS2906.2	3	.	.	.	.	.	.	.	.	.	.	G	26.3	4.727467	0.89390	.	.	ENSG00000163376	ENST00000295568;ENST00000417314	T;T	0.74632	-0.85;-0.86	4.58	4.58	0.56647	.	0.050503	0.85682	D	0.000000	T	0.77212	0.4097	L	0.34521	1.04	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	T	0.71041	-0.4707	10	0.08381	T	0.77	.	17.7233	0.88358	0.0:0.0:1.0:0.0	.	286	Q8NFY9	KBTB8_HUMAN	K	260;286	ENSP00000295568:E260K;ENSP00000401878:E286K	ENSP00000295568:E260K	E	+	1	0	KBTBD8	67136937	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.763000	0.98947	2.228000	0.72767	0.557000	0.71058	GAA	KBTBD8	-	pirsf_Kelch-like_gigaxonin	ENSG00000163376		0.433	KBTBD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD8	HGNC	protein_coding	OTTHUMT00000352189.1	61	0.00	0	G	NM_032505		67054247	67054247	+1	no_errors	ENST00000417314	ensembl	human	known	69_37n	missense	59	16.90	12	SNP	1.000	A
KCNA2	3737	genome.wustl.edu	37	1	111146715	111146715	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:111146715G>A	ENST00000485317.1	-	3	1363	c.690C>T	c.(688-690)atC>atT	p.I230I	KCNA2_ENST00000525120.1_5'UTR|KCNA2_ENST00000440270.1_Silent_p.I230I|KCNA2_ENST00000369770.3_Silent_p.I230I|KCNA2_ENST00000316361.4_Silent_p.I230I			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	230					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)	AGAACCAGATGATGCAGAGTG	0.488																																					Pancreas(18;568 735 10587 23710 36357)	dbGAP											0													135.0	132.0	133.0					1																	111146715		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			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.690C>T	1.37:g.111146715G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86XG6	Silent	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.I230	ENST00000485317.1	37	c.690	CCDS827.1	1																																																																																			KCNA2	-	pfam_Ion_trans_dom,prints_K_chnl	ENSG00000177301		0.488	KCNA2-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KCNA2	HGNC	protein_coding	OTTHUMT00000128001.2	96	0.00	0	G	NM_004974		111146715	111146715	-1	no_errors	ENST00000316361	ensembl	human	known	69_37n	silent	83	28.45	33	SNP	1.000	A
KCNA3	3738	genome.wustl.edu	37	1	111215866	111215866	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:111215866C>T	ENST00000369769.2	-	1	1789	c.1566G>A	c.(1564-1566)tcG>tcA	p.S522S		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	522					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|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)|voltage-gated ion channel activity (GO:0005244)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	TACTCAGAGTCGAGTTACTCC	0.542																																						dbGAP											0													95.0	86.0	89.0					1																	111215866		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.1566G>A	1.37:g.111215866C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VWN2	Silent	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_Kv1.3,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.S522	ENST00000369769.2	37	c.1566	CCDS828.2	1																																																																																			KCNA3	-	NULL	ENSG00000177272		0.542	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA3	HGNC	protein_coding	OTTHUMT00000083391.1	63	0.00	0	C	NM_002232		111215866	111215866	-1	no_errors	ENST00000369769	ensembl	human	known	69_37n	silent	56	17.65	12	SNP	0.976	T
KCNB1	3745	genome.wustl.edu	37	20	47990422	47990422	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:47990422C>T	ENST00000371741.4	-	2	1841	c.1675G>A	c.(1675-1677)Gaa>Aaa	p.E559K		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	559					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	ATTTCAAGTTCTTCCTTTGGT	0.493																																						dbGAP											0													137.0	119.0	125.0					20																	47990422		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.1675G>A	20.37:g.47990422C>T	ENSP00000360806:p.Glu559Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14193	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_Kv2,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_Kv2.1,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8	p.E559K	ENST00000371741.4	37	c.1675	CCDS13418.1	20	.	.	.	.	.	.	.	.	.	.	C	26.0	4.695936	0.88830	.	.	ENSG00000158445	ENST00000371741;ENST00000538812	T	0.38887	1.11	6.07	6.07	0.98685	.	1.439940	0.03687	N	0.246462	T	0.66386	0.2784	M	0.73962	2.25	0.80722	D	1	P	0.52170	0.951	P	0.54100	0.742	T	0.55842	-0.8077	10	0.33940	T	0.23	.	20.2543	0.98414	0.0:1.0:0.0:0.0	.	559	Q14721	KCNB1_HUMAN	K	559;514	ENSP00000360806:E559K	ENSP00000360806:E559K	E	-	1	0	KCNB1	47423829	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	6.090000	0.71397	2.884000	0.98904	0.655000	0.94253	GAA	KCNB1	-	pfam_K_chnl_volt-dep_Kv2	ENSG00000158445		0.493	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNB1	HGNC	protein_coding	OTTHUMT00000080374.3	61	0.00	0	C	NM_004975		47990422	47990422	-1	no_errors	ENST00000371741	ensembl	human	known	69_37n	missense	69	20.69	18	SNP	1.000	T
KCNC4	3749	genome.wustl.edu	37	1	110765684	110765684	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:110765684G>T	ENST00000369787.3	+	2	804	c.777G>T	c.(775-777)gaG>gaT	p.E259D	KCNC4_ENST00000438661.2_Missense_Mutation_p.E259D|KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000413138.3_Missense_Mutation_p.E259D	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	259					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		ACGTGACAGAGATCCTCCGCG	0.557																																						dbGAP											0													225.0	183.0	197.0					1																	110765684		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC101769	CCDS821.1, CCDS44193.1	1p21	2012-07-05			ENSG00000116396	ENSG00000116396		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6236	protein-coding gene	gene with protein product		176265	"""chromosome 1 open reading frame 30"""	C1orf30		1920536, 1740329, 16382104	Standard	NM_004978		Approved	Kv3.4, HKSHIIIC	uc001dzh.3	Q03721	OTTHUMG00000011037	ENST00000369787.3:c.777G>T	1.37:g.110765684G>T	ENSP00000358802:p.Glu259Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3MIM4|Q5TBI6	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_K_chnl_volt-dep_Kv3_ID,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv3.4,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9	p.E259D	ENST00000369787.3	37	c.777	CCDS821.1	1	.	.	.	.	.	.	.	.	.	.	G	10.34	1.323731	0.24080	.	.	ENSG00000116396	ENST00000369787;ENST00000413138;ENST00000438661	D;D;D	0.97598	-4.45;-4.45;-4.45	4.75	2.84	0.33178	.	1.518790	0.03764	N	0.258584	D	0.91952	0.7451	L	0.41492	1.28	0.40972	D	0.984702	B;B;B	0.18610	0.002;0.001;0.029	B;B;B	0.29663	0.003;0.007;0.105	T	0.76550	-0.2918	10	0.22706	T	0.39	.	11.265	0.49106	0.1528:0.0:0.8472:0.0	.	259;259;259	Q03721;Q03721-3;Q03721-2	KCNC4_HUMAN;.;.	D	259	ENSP00000358802:E259D;ENSP00000388029:E259D;ENSP00000393655:E259D	ENSP00000358802:E259D	E	+	3	2	KCNC4	110567207	1.000000	0.71417	0.998000	0.56505	0.606000	0.37113	3.429000	0.52800	0.515000	0.28320	0.462000	0.41574	GAG	KCNC4	-	NULL	ENSG00000116396		0.557	KCNC4-004	KNOWN	basic|CCDS	protein_coding	KCNC4	HGNC	protein_coding	OTTHUMT00000052146.2	71	0.00	0	G	NM_001039574		110765684	110765684	+1	no_errors	ENST00000369787	ensembl	human	known	69_37n	missense	75	25.00	25	SNP	0.946	T
KCND3	3752	genome.wustl.edu	37	1	112323333	112323333	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:112323333G>C	ENST00000315987.2	-	4	1829	c.1350C>G	c.(1348-1350)ctC>ctG	p.L450L	KCND3_ENST00000302127.4_Silent_p.L450L|KCND3_ENST00000369697.1_Silent_p.L450L	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	450					cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	GCGCCTCGTTGAGGAGCCCGT	0.567																																						dbGAP											0													59.0	45.0	50.0					1																	112323333		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6239	protein-coding gene	gene with protein product		605411	"""spinocerebellar ataxia 22"", ""spinocerebellar ataxia 19"""	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.1350C>G	1.37:g.112323333G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Silent	SNP	pfam_K_chnl_volt-dep_Kv4_C,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Shal-type,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.3,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3	p.L450	ENST00000315987.2	37	c.1350	CCDS843.1	1																																																																																			KCND3	-	pfam_K_chnl_volt-dep_Kv4_C,prints_K_chnl_volt-dep_Kv4.3	ENSG00000171385		0.567	KCND3-001	KNOWN	basic|CCDS	protein_coding	KCND3	HGNC	protein_coding	OTTHUMT00000033144.1	47	0.00	0	G	NM_172198		112323333	112323333	-1	no_errors	ENST00000315987	ensembl	human	known	69_37n	silent	52	28.77	21	SNP	1.000	C
KCNH5	27133	genome.wustl.edu	37	14	63316565	63316565	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:63316565G>C	ENST00000322893.7	-	8	1643	c.1375C>G	c.(1375-1377)Ctt>Gtt	p.L459V	KCNH5_ENST00000420622.2_Missense_Mutation_p.L459V|KCNH5_ENST00000394968.1_Missense_Mutation_p.L401V	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	459					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GTTGCATAAAGAAGAGCTGAA	0.313																																						dbGAP											0													73.0	66.0	68.0					14																	63316565		2203	4299	6502	-	-	-	SO:0001583	missense	0			U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.1375C>G	14.37:g.63316565G>C	ENSP00000321427:p.Leu459Val	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JP98	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_cNMP-bd_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,tigrfam_PAS	p.L459V	ENST00000322893.7	37	c.1375	CCDS9756.1	14	.	.	.	.	.	.	.	.	.	.	G	16.06	3.015287	0.54468	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968	D;D;D	0.98947	-5.26;-5.26;-5.26	5.36	5.36	0.76844	Ion transport (1);	0.124466	0.56097	D	0.000030	D	0.98365	0.9457	L	0.48174	1.505	0.80722	D	1	P;P;D	0.55605	0.603;0.924;0.972	B;P;P	0.57548	0.421;0.54;0.823	D	0.98971	1.0801	10	0.51188	T	0.08	.	18.4208	0.90590	0.0:0.0:1.0:0.0	.	401;459;459	Q8NCM2-3;Q8NCM2-2;Q8NCM2	.;.;KCNH5_HUMAN	V	459;459;401	ENSP00000321427:L459V;ENSP00000395439:L459V;ENSP00000378419:L401V	ENSP00000321427:L459V	L	-	1	0	KCNH5	62386318	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.939000	0.87685	2.658000	0.90341	0.650000	0.86243	CTT	KCNH5	-	pfam_Ion_trans_dom,pfam_Ion_trans_2	ENSG00000140015		0.313	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH5	HGNC	protein_coding	OTTHUMT00000411747.1	101	0.00	0	G	NM_139318		63316565	63316565	-1	no_errors	ENST00000322893	ensembl	human	known	69_37n	missense	68	31.00	31	SNP	1.000	C
KCNH6	81033	genome.wustl.edu	37	17	61611486	61611486	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:61611486C>T	ENST00000583023.1	+	5	926	c.915C>T	c.(913-915)ctC>ctT	p.L305L	KCNH6_ENST00000580652.1_Silent_p.L305L|KCNH6_ENST00000581784.1_Silent_p.L305L|KCNH6_ENST00000314672.5_Silent_p.L305L|KCNH6_ENST00000456941.2_Silent_p.L305L	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	305					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TGGTGGATCTCATCGTGGACA	0.592																																						dbGAP											0													219.0	188.0	199.0					17																	61611486		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.915C>T	17.37:g.61611486C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BRD7	Silent	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_ELK,prints_2pore_dom_K_chnl,pfscan_cNMP-bd_dom	p.L305	ENST00000583023.1	37	c.915	CCDS11638.1	17																																																																																			KCNH6	-	pfam_Ion_trans_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	ENSG00000173826		0.592	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH6	HGNC	protein_coding	OTTHUMT00000443853.1	51	0.00	0	C	NM_030779		61611486	61611486	+1	no_errors	ENST00000583023	ensembl	human	known	69_37n	silent	120	13.04	18	SNP	1.000	T
KCNH6	81033	genome.wustl.edu	37	17	61623093	61623093	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:61623093G>C	ENST00000583023.1	+	14	2826	c.2815G>C	c.(2815-2817)Gag>Cag	p.E939Q	KCNH6_ENST00000581784.1_Missense_Mutation_p.E850Q|KCNH6_ENST00000314672.5_Missense_Mutation_p.E903Q|KCNH6_ENST00000456941.2_Missense_Mutation_p.E850Q	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	939					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	GGAACAGCCTGAGGGGCTCTG	0.582																																						dbGAP											0													111.0	101.0	104.0					17																	61623093		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.2815G>C	17.37:g.61623093G>C	ENSP00000463533:p.Glu939Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BRD7	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_ELK,prints_2pore_dom_K_chnl,pfscan_cNMP-bd_dom	p.E939Q	ENST00000583023.1	37	c.2815	CCDS11638.1	17	.	.	.	.	.	.	.	.	.	.	G	9.586	1.124893	0.20959	.	.	ENSG00000173826	ENST00000314672;ENST00000456941	D	0.99264	-5.65	4.84	-0.0201	0.13957	.	0.778590	0.10423	U	0.676381	D	0.96172	0.8752	L	0.36672	1.1	0.09310	N	1	B;B;B;B	0.10296	0.001;0.001;0.002;0.003	B;B;B;B	0.06405	0.001;0.002;0.002;0.001	D	0.90969	0.4818	10	0.17369	T	0.5	.	1.3301	0.02133	0.1737:0.2296:0.3897:0.2071	.	780;903;850;939	B4DPJ3;B4DKC0;Q9H252-2;Q9H252	.;.;.;KCNH6_HUMAN	Q	939;850	ENSP00000396900:E850Q	ENSP00000318212:E939Q	E	+	1	0	KCNH6	58976825	0.000000	0.05858	0.116000	0.21606	0.669000	0.39330	0.437000	0.21543	0.153000	0.19213	0.563000	0.77884	GAG	KCNH6	-	NULL	ENSG00000173826		0.582	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH6	HGNC	protein_coding	OTTHUMT00000443853.1	69	0.00	0	G	NM_030779		61623093	61623093	+1	no_errors	ENST00000583023	ensembl	human	known	69_37n	missense	121	14.79	21	SNP	0.044	C
KCNH7	90134	genome.wustl.edu	37	2	163228505	163228505	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:163228505G>C	ENST00000332142.5	-	16	3524	c.3425C>G	c.(3424-3426)tCa>tGa	p.S1142*		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	1142					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TTTTAAAAGTGAAGTCAAGTT	0.393																																					GBM(196;1492 2208 17507 24132 45496)	dbGAP											0													86.0	83.0	84.0					2																	163228505		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.3425C>G	2.37:g.163228505G>C	ENSP00000331727:p.Ser1142*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53QU4|Q53TB7|Q53TP9|Q8IV15	Nonsense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,tigrfam_PAS	p.S1142*	ENST00000332142.5	37	c.3425	CCDS2219.1	2	.	.	.	.	.	.	.	.	.	.	G	40	8.125660	0.98667	.	.	ENSG00000184611	ENST00000332142	.	.	.	5.43	5.43	0.79202	.	0.497689	0.21236	N	0.077889	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	14.1311	0.65255	0.0:0.0:0.8499:0.1501	.	.	.	.	X	1142	.	ENSP00000331727:S1142X	S	-	2	0	KCNH7	162936751	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	5.107000	0.64603	2.558000	0.86282	0.563000	0.77884	TCA	KCNH7	-	NULL	ENSG00000184611		0.393	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH7	HGNC	protein_coding	OTTHUMT00000255093.1	55	0.00	0	G	NM_033272		163228505	163228505	-1	no_errors	ENST00000332142	ensembl	human	known	69_37n	nonsense	48	18.64	11	SNP	0.996	C
KCNJ1	3758	genome.wustl.edu	37	11	128710027	128710027	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:128710027C>G	ENST00000392664.2	-	2	285	c.169G>C	c.(169-171)Gag>Cag	p.E57Q	KCNJ1_ENST00000440599.2_Missense_Mutation_p.E38Q|KCNJ1_ENST00000392666.1_Missense_Mutation_p.E38Q|KCNJ1_ENST00000392665.2_Missense_Mutation_p.E38Q|KCNJ1_ENST00000324036.3_Missense_Mutation_p.E38Q	NM_000220.4	NP_000211.1	P48048	KCNJ1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	57					cardiovascular system development (GO:0072358)|excretion (GO:0007588)|kidney development (GO:0001822)|post-embryonic development (GO:0009791)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of G-protein activated inward rectifier potassium channel activity (GO:1900128)|renal sodium ion absorption (GO:0070294)|synaptic transmission (GO:0007268)|tissue homeostasis (GO:0001894)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Bethanidine(DB00217)|Glimepiride(DB00222)|Glyburide(DB01016)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Tolazamide(DB00839)|Tolbutamide(DB01124)|Yohimbine(DB01392)	GACTGTGCCTCCACATTGCCA	0.453																																						dbGAP											0													195.0	182.0	186.0					11																	128710027		2201	4297	6498	-	-	-	SO:0001583	missense	0			BC063109	CCDS8476.1, CCDS8477.1	11q24	2011-07-05			ENSG00000151704	ENSG00000151704		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6255	protein-coding gene	gene with protein product		600359				7680431, 8190102, 16382105	Standard	NM_153765		Approved	Kir1.1, ROMK1	uc001qeo.2	P48048	OTTHUMG00000048247	ENST00000392664.2:c.169G>C	11.37:g.128710027C>G	ENSP00000376432:p.Glu57Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RMR4|Q6LD67	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.1,prints_K_chnl_inward-rec_Kir_Cr2	p.E57Q	ENST00000392664.2	37	c.169	CCDS8476.1	11	.	.	.	.	.	.	.	.	.	.	C	13.67	2.306043	0.40795	.	.	ENSG00000151704	ENST00000392665;ENST00000392666;ENST00000440599;ENST00000324036;ENST00000392664;ENST00000324003	D;D;D;D;D;D	0.93953	-3.32;-3.32;-3.32;-3.32;-3.32;-3.32	5.66	4.75	0.60458	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.431079	0.28268	N	0.015968	D	0.91676	0.7369	L	0.42245	1.32	0.32526	N	0.535602	P	0.36837	0.571	P	0.44921	0.464	D	0.90690	0.4612	10	0.17369	T	0.5	.	14.7057	0.69189	0.0:0.9304:0.0:0.0696	.	57	P48048	IRK1_HUMAN	Q	38;38;38;38;57;38	ENSP00000376433:E38Q;ENSP00000376434:E38Q;ENSP00000406320:E38Q;ENSP00000316233:E38Q;ENSP00000376432:E57Q;ENSP00000316136:E38Q	ENSP00000316136:E38Q	E	-	1	0	KCNJ1	128215237	0.996000	0.38824	0.615000	0.29064	0.957000	0.61999	2.395000	0.44459	1.411000	0.46957	0.455000	0.32223	GAG	KCNJ1	-	pfam_K_chnl_inward-rec_Kir_Cr2,pirsf_K_chnl_inward-rec_Kir	ENSG00000151704		0.453	KCNJ1-004	KNOWN	basic|CCDS	protein_coding	KCNJ1	HGNC	protein_coding	OTTHUMT00000386233.1	82	0.00	0	C	NM_000220		128710027	128710027	-1	no_errors	ENST00000392664	ensembl	human	known	69_37n	missense	49	49.48	48	SNP	0.945	G
KCNJ13	3769	genome.wustl.edu	37	2	233635830	233635830	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:233635830C>A	ENST00000233826.3	-	2	382	c.243G>T	c.(241-243)atG>atT	p.M81I	GIGYF2_ENST00000409196.3_Intron|KCNJ13_ENST00000409779.1_Intron|GIGYF2_ENST00000409547.1_Intron|GIGYF2_ENST00000373563.4_Intron|GIGYF2_ENST00000409451.3_Intron|GIGYF2_ENST00000373566.3_Intron|KCNJ13_ENST00000410029.1_Missense_Mutation_p.M81I|GIGYF2_ENST00000409480.1_Intron|GIGYF2_ENST00000452341.2_Intron	NM_002242.4	NP_002233.2	O60928	KCJ13_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 13	81					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	inward rectifier potassium channel activity (GO:0005242)			endometrium(3)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	9		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908)		Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617)		GATCACCATTCATCTCAGCCA	0.468																																						dbGAP											0													221.0	206.0	212.0					2																	233635830		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ006128	CCDS2498.1, CCDS54437.1	2q37	2014-01-28			ENSG00000115474	ENSG00000115474		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6259	protein-coding gene	gene with protein product		603208				9878260, 9620703, 16382105	Standard	NM_002242		Approved	Kir7.1, Kir1.4, LCA16	uc002vtp.3	O60928	OTTHUMG00000153292	ENST00000233826.3:c.243G>T	2.37:g.233635830C>A	ENSP00000233826:p.Met81Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PGH1|O76023|Q53SA1|Q8N3Y4	Nonsense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir_Cr2,prints_K_chnl_inward-rec_Kir_Cr2	p.E49*	ENST00000233826.3	37	c.145	CCDS2498.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.771|5.771	0.326588|0.326588	0.10900|0.10900	.|.	.|.	ENSG00000115474|ENSG00000115474	ENST00000444142|ENST00000233826;ENST00000410029;ENST00000438786	.|D;D;D	.|0.93189	.|-3.18;-3.18;-2.05	5.6|5.6	5.6|5.6	0.85130|0.85130	.|Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	.|0.127237	.|0.85682	.|D	.|0.000000	.|D	.|0.87442	.|0.6178	N|N	0.14661|0.14661	0.345|0.345	0.46167|0.46167	D|D	0.998902|0.998902	.|B	.|0.12630	.|0.006	.|B	.|0.14578	.|0.011	.|T	.|0.82172	.|-0.0589	.|10	.|0.16896	.|T;T	.|0.51;0.51	.|.	19.6229|19.6229	0.95667|0.95667	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|81	.|O60928	.|IRK13_HUMAN	X|I	49|81;81;1	.|ENSP00000233826:M81I;ENSP00000386251:M81I;ENSP00000407284:M1I	.|ENSP00000233826:M81I;ENSP00000233826:M81I	E|M	-|-	1|3	0|0	KCNJ13|KCNJ13	233344074|233344074	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.773000|2.773000	0.47686|0.47686	2.628000|2.628000	0.89032|0.89032	0.655000|0.655000	0.94253|0.94253	GAA|ATG	KCNJ13	-	pfam_K_chnl_inward-rec_Kir_Cr2	ENSG00000115474		0.468	KCNJ13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ13	HGNC	protein_coding	OTTHUMT00000257036.1	157	0.00	0	C	NM_002242		233635830	233635830	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000444142	ensembl	human	putative	69_37n	nonsense	167	18.54	38	SNP	1.000	A
KCNJ14	3770	genome.wustl.edu	37	19	48967728	48967728	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:48967728C>G	ENST00000391884.1	+	2	1481	c.1005C>G	c.(1003-1005)ctC>ctG	p.L335L	CTC-273B12.7_ENST00000595676.1_5'Flank|CTC-273B12.5_ENST00000593476.1_RNA|KCNJ14_ENST00000342291.2_Silent_p.L335L|CTC-273B12.6_ENST00000597574.1_lincRNA|CTC-273B12.5_ENST00000600650.1_RNA|CTC-273B12.5_ENST00000600529.1_RNA|CTC-273B12.5_ENST00000596497.1_RNA			Q9UNX9	KCJ14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14	335					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)	Yohimbine(DB01392)	AGCCAGTTCTCTTCCAGCGTG	0.577																																					NSCLC(148;170 3504 35216)	dbGAP											0													83.0	71.0	75.0					19																	48967728		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC042033	CCDS12721.1	19q13	2011-07-05				ENSG00000182324		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6260	protein-coding gene	gene with protein product		603953				9592090, 10723734, 16382105	Standard	NM_013348		Approved	Kir2.4, IRK4	uc002pje.2	Q9UNX9		ENST00000391884.1:c.1005C>G	19.37:g.48967728C>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2	p.L335	ENST00000391884.1	37	c.1005	CCDS12721.1	19																																																																																			KCNJ14	-	pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2	ENSG00000182324		0.577	KCNJ14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ14	HGNC	protein_coding	OTTHUMT00000466127.1	80	0.00	0	C	NM_013348		48967728	48967728	+1	no_errors	ENST00000342291	ensembl	human	known	69_37n	silent	83	23.85	26	SNP	1.000	G
KCNJ15	3772	genome.wustl.edu	37	21	39672032	39672032	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr21:39672032C>G	ENST00000328656.4	+	4	1152	c.849C>G	c.(847-849)ctC>ctG	p.L283L	KCNJ15_ENST00000398938.2_Silent_p.L283L|KCNJ15_ENST00000398934.1_Silent_p.L283L|KCNJ15_ENST00000398930.1_Silent_p.L283L|KCNJ15_ENST00000398932.1_Silent_p.L283L	NM_001276437.1|NM_001276438.1|NM_001276439.1|NM_002243.3	NP_001263366.1|NP_001263367.1|NP_001263368.1|NP_002234.2	Q99712	KCJ15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15	283					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24					Yohimbine(DB01392)	TGGTCCTCCTCAATGCCACTG	0.517																																						dbGAP											0													74.0	73.0	73.0					21																	39672032		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Y10745	CCDS13656.1	21q22.2	2011-07-05			ENSG00000157551	ENSG00000157551		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6261	protein-coding gene	gene with protein product		602106				9299242, 8995301, 16382105	Standard	NM_170736		Approved	Kir4.2, Kir1.3, IRKK	uc002ywx.4	Q99712	OTTHUMG00000090609	ENST00000328656.4:c.849C>G	21.37:g.39672032C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DSH5|O00564|Q96L28|Q99446	Silent	SNP	pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.3,prints_K_chnl_inward-rec_Kir_Cr2,prints_K_chnl_inward-rec_Kir1.1	p.L283	ENST00000328656.4	37	c.849	CCDS13656.1	21																																																																																			KCNJ15	-	pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2	ENSG00000157551		0.517	KCNJ15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ15	HGNC	protein_coding	OTTHUMT00000207181.2	79	0.00	0	C	NM_002243		39672032	39672032	+1	no_errors	ENST00000328656	ensembl	human	known	69_37n	silent	50	23.08	15	SNP	0.998	G
KCNK2	3776	genome.wustl.edu	37	1	215408381	215408381	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:215408381G>A	ENST00000444842.2	+	7	1324	c.1174G>A	c.(1174-1176)Gag>Aag	p.E392K	KCNK2_ENST00000391894.2_Missense_Mutation_p.E377K|KCNK2_ENST00000391895.2_Missense_Mutation_p.E388K	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	392	Essential for chloroform and halothane sensitivity. {ECO:0000250}.|Required for basal channel activity. {ECO:0000250}.				G-protein coupled receptor signaling pathway (GO:0007186)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|potassium ion leak channel activity (GO:0022841)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)|Dronedarone(DB04855)	CCTGACCAGCGAGAGGGATGT	0.517																																						dbGAP											0													110.0	107.0	108.0					1																	215408381		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF004711	CCDS31024.1, CCDS41466.1, CCDS41467.1	1q41	2012-03-07			ENSG00000082482	ENSG00000082482		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6277	protein-coding gene	gene with protein product		603219				9721223, 16382106	Standard	NM_001017424		Approved	K2p2.1, TREK-1	uc001hkr.4	O95069	OTTHUMG00000037017	ENST00000444842.2:c.1174G>A	1.37:g.215408381G>A	ENSP00000394033:p.Glu392Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A1Z1V3|A8K618|B2RCS4|B7ZL56|D3DTA5|Q5DP47|Q5DP48|Q9NRT2|Q9UNE3	Missense_Mutation	SNP	pfam_Ion_trans_2,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK	p.E392K	ENST00000444842.2	37	c.1174	CCDS41467.1	1	.	.	.	.	.	.	.	.	.	.	G	18.45	3.626154	0.66901	.	.	ENSG00000082482	ENST00000391895;ENST00000391894;ENST00000444842	T;T;T	0.23754	1.9;1.91;1.89	5.72	4.82	0.62117	.	0.345024	0.33272	N	0.005100	T	0.18800	0.0451	N	0.19112	0.55	0.51012	D	0.999901	B;B;P	0.50443	0.0;0.168;0.935	B;B;B	0.41691	0.001;0.019;0.364	T	0.02121	-1.1210	10	0.45353	T	0.12	.	14.6765	0.68983	0.0696:0.0:0.9304:0.0	.	377;392;388	O95069-2;O95069;O95069-3	.;KCNK2_HUMAN;.	K	388;377;392	ENSP00000375765:E388K;ENSP00000375764:E377K;ENSP00000394033:E392K	ENSP00000375764:E377K	E	+	1	0	KCNK2	213475004	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.411000	0.97342	1.435000	0.47434	0.561000	0.74099	GAG	KCNK2	-	NULL	ENSG00000082482		0.517	KCNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK2	HGNC	protein_coding	OTTHUMT00000089856.2	100	0.00	0	G	NM_014217		215408381	215408381	+1	no_errors	ENST00000444842	ensembl	human	known	69_37n	missense	88	20.00	22	SNP	1.000	A
KCNK1	3775	genome.wustl.edu	37	1	233802604	233802604	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:233802604G>C	ENST00000366621.3	+	2	787	c.619G>C	c.(619-621)Gag>Cag	p.E207Q	KCNK1_ENST00000472190.1_3'UTR|KCNK1_ENST00000366620.1_Missense_Mutation_p.E91Q	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	207					potassium ion transport (GO:0006813)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)	CTCAGTCCTGGAGGATGACTG	0.512																																						dbGAP											0													136.0	127.0	130.0					1																	233802604		2203	4300	6503	-	-	-	SO:0001583	missense	0			U33632	CCDS1599.1	1q42-q43	2012-03-07			ENSG00000135750	ENSG00000135750		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6272	protein-coding gene	gene with protein product		601745				8661042, 16382106	Standard	NM_002245		Approved	K2p1.1, DPK, TWIK-1	uc010pxo.1	O00180	OTTHUMG00000037923	ENST00000366621.3:c.619G>C	1.37:g.233802604G>C	ENSP00000355580:p.Glu207Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13307|Q5T5E8	Missense_Mutation	SNP	pirsf_2pore_dom_K_chnl_TASK/TWIK,pfam_Ion_trans_2,prints_2pore_dom_K_chnl_TWIK1,prints_2pore_dom_K_chnl_TWIK,prints_2pore_dom_K_chnl	p.E207Q	ENST00000366621.3	37	c.619	CCDS1599.1	1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.736012	0.89482	.	.	ENSG00000135750	ENST00000366621;ENST00000366620;ENST00000446915	T;D;D	0.98701	1.07;-5.08;-5.08	5.7	4.77	0.60923	Ion transport 2 (1);	0.043133	0.85682	N	0.000000	D	0.98267	0.9426	M	0.81802	2.56	0.80722	D	1	P	0.36753	0.568	B	0.41332	0.354	D	0.98448	1.0590	10	0.62326	D	0.03	.	16.6689	0.85260	0.0:0.1298:0.8702:0.0	.	207	O00180	KCNK1_HUMAN	Q	207;91;125	ENSP00000355580:E207Q;ENSP00000355579:E91Q;ENSP00000409626:E125Q	ENSP00000355579:E91Q	E	+	1	0	KCNK1	231869227	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.612000	0.98347	1.383000	0.46405	0.655000	0.94253	GAG	KCNK1	-	pirsf_2pore_dom_K_chnl_TASK/TWIK,pfam_Ion_trans_2	ENSG00000135750		0.512	KCNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK1	HGNC	protein_coding	OTTHUMT00000092565.1	125	0.00	0	G	NM_002245		233802604	233802604	+1	no_errors	ENST00000366621	ensembl	human	known	69_37n	missense	171	15.35	31	SNP	1.000	C
KCNK9	51305	genome.wustl.edu	37	8	140631134	140631134	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:140631134G>C	ENST00000520439.1	-	2	555	c.492C>G	c.(490-492)ttC>ttG	p.F164L	KCNK9_ENST00000523477.1_5'Flank|KCNK9_ENST00000303015.1_Missense_Mutation_p.F164L	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	164					cochlea development (GO:0090102)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)		Doxapram(DB00561)|Halothane(DB01159)	TGCAGGAGAAGAAGCCCACAG	0.562																																						dbGAP											0													139.0	117.0	125.0					8																	140631134		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF212829	CCDS6377.1	8q24.3	2012-03-07			ENSG00000169427	ENSG00000169427		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6283	protein-coding gene	gene with protein product		605874				10734076, 16382106	Standard	NM_001282534		Approved	K2p9.1, TASK3, TASK-3	uc003yvf.1	Q9NPC2	OTTHUMG00000164186	ENST00000520439.1:c.492C>G	8.37:g.140631134G>C	ENSP00000430676:p.Phe164Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M290|Q540F2	Missense_Mutation	SNP	pfam_Ion_trans_2,pirsf_2pore_dom_K_chnl_TASK/TWIK,prints_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TASK3,prints_2pore_dom_K_chnl	p.F164L	ENST00000520439.1	37	c.492	CCDS6377.1	8	.	.	.	.	.	.	.	.	.	.	G	12.35	1.910702	0.33721	.	.	ENSG00000169427	ENST00000522317;ENST00000303015;ENST00000520439	T;T;T	0.19532	2.14;2.14;2.14	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.13798	0.0334	L	0.28694	0.88	0.80722	D	1	B	0.14805	0.011	B	0.17979	0.02	T	0.04976	-1.0914	10	0.02654	T	1	.	12.4594	0.55723	0.0757:0.0:0.9243:0.0	.	164	Q9NPC2	KCNK9_HUMAN	L	164	ENSP00000429847:F164L;ENSP00000302166:F164L;ENSP00000430676:F164L	ENSP00000302166:F164L	F	-	3	2	KCNK9	140700316	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.526000	0.67116	2.753000	0.94483	0.655000	0.94253	TTC	KCNK9	-	pirsf_2pore_dom_K_chnl_TASK/TWIK	ENSG00000169427		0.562	KCNK9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK9	HGNC	protein_coding	OTTHUMT00000378473.1	60	0.00	0	G	NM_016601		140631134	140631134	-1	no_errors	ENST00000303015	ensembl	human	known	69_37n	missense	38	59.57	56	SNP	1.000	C
KCNMA1	3778	genome.wustl.edu	37	10	78651293	78651293	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:78651293G>A	ENST00000286628.8	-	26	3331	c.3332C>T	c.(3331-3333)gCg>gTg	p.A1111V	RP11-443A13.5_ENST00000609102.1_RNA|KCNMA1_ENST00000372443.1_Missense_Mutation_p.A1080V|RP11-443A13.5_ENST00000458661.2_RNA|RP11-443A13.5_ENST00000595702.1_RNA|KCNMA1_ENST00000406533.3_Missense_Mutation_p.A1115V|KCNMA1_ENST00000354353.5_Missense_Mutation_p.A1114V|RP11-443A13.5_ENST00000429850.2_RNA|KCNMA1_ENST00000372440.1_Missense_Mutation_p.A1053V|KCNMA1_ENST00000404857.1_Missense_Mutation_p.A1094V|KCNMA1_ENST00000286627.5_Missense_Mutation_p.A1053V|KCNMA1_ENST00000404771.3_Missense_Mutation_p.A1111V	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1111					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	CCCTAAGTCCGCAAATGGCCC	0.572																																						dbGAP											0													38.0	34.0	35.0					10																	78651293		2203	4300	6503	-	-	-	SO:0001583	missense	0			U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.3332C>T	10.37:g.78651293G>A	ENSP00000286628:p.Ala1111Val	Somatic		WXS	Illumina GAIIx	Phase_IV	F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl	p.A1115V	ENST00000286628.8	37	c.3344		10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.48|16.48	3.134959|3.134959	0.56828|0.56828	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708|ENST00000372403	D;D;D;D;D;D;D;D;D|.	0.85013|.	-1.91;-1.92;-1.92;-1.93;-1.9;-1.91;-1.93;-1.93;-1.92|.	5.49|5.49	4.59|4.59	0.56863|0.56863	.|.	0.050044|.	0.85682|.	N|.	0.000000|.	T|T	0.62804|0.62804	0.2458|0.2458	L|L	0.52573|0.52573	1.65|1.65	0.80722|0.80722	D|D	1|1	D;P;D;D;D;P;D;D|.	0.89917|.	1.0;0.954;0.973;0.99;0.974;0.911;0.994;0.959|.	D;P;P;P;P;B;P;P|.	0.73380|.	0.98;0.561;0.746;0.877;0.674;0.326;0.746;0.475|.	T|T	0.60737|0.60737	-0.7204|-0.7204	10|5	0.87932|.	D|.	0|.	-9.7202|-9.7202	14.447|14.447	0.67359|0.67359	0.071:0.0:0.929:0.0|0.071:0.0:0.929:0.0	.|.	1082;1083;1094;1111;1053;864;1114;1080|.	Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;C9JFZ9;F8WA96;Q5SVJ7|.	.;.;.;KCMA1_HUMAN;.;.;.;.|.	V|W	1053;990;1046;1085;1048;1080;1053;1085;1115;1114;1094;864|1004	ENSP00000361517:A1053V;ENSP00000361485:A990V;ENSP00000361514:A1046V;ENSP00000396608:A1085V;ENSP00000361520:A1080V;ENSP00000286627:A1053V;ENSP00000385552:A1115V;ENSP00000346321:A1114V;ENSP00000385806:A1094V|.	ENSP00000286627:A1053V|.	A|R	-|-	2|1	0|2	KCNMA1|KCNMA1	78321299|78321299	1.000000|1.000000	0.71417|0.71417	0.852000|0.852000	0.33557|0.33557	0.003000|0.003000	0.03518|0.03518	9.476000|9.476000	0.97823|0.97823	1.333000|1.333000	0.45449|0.45449	-0.157000|-0.157000	0.13467|0.13467	GCG|CGG	KCNMA1	-	NULL	ENSG00000156113		0.572	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	KCNMA1	HGNC	protein_coding	OTTHUMT00000048885.3	38	0.00	0	G	NM_002247		78651293	78651293	-1	no_errors	ENST00000406533	ensembl	human	known	69_37n	missense	15	46.43	13	SNP	1.000	A
KCNQ2	3785	genome.wustl.edu	37	20	62070008	62070008	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:62070008C>G	ENST00000359125.2	-	7	1167	c.993G>C	c.(991-993)aaG>aaC	p.K331N	KCNQ2_ENST00000359689.1_Missense_Mutation_p.K331N|KCNQ2_ENST00000357249.2_Missense_Mutation_p.K331N|KCNQ2_ENST00000360480.3_Missense_Mutation_p.K331N|KCNQ2_ENST00000354587.3_Missense_Mutation_p.K331N|KCNQ2_ENST00000344425.5_Missense_Mutation_p.K331N|KCNQ2_ENST00000370224.1_Missense_Mutation_p.K331N|KCNQ2_ENST00000344462.4_Missense_Mutation_p.K331N	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	331					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	GGTTCCGCCTCTTCTCAAAGT	0.617																																						dbGAP											0													131.0	108.0	116.0					20																	62070008		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.993G>C	20.37:g.62070008C>G	ENSP00000352035:p.Lys331Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.K331N	ENST00000359125.2	37	c.993	CCDS13520.1	20	.	.	.	.	.	.	.	.	.	.	C	16.95	3.262968	0.59431	.	.	ENSG00000075043	ENST00000357249;ENST00000359125;ENST00000370226;ENST00000354587;ENST00000359689;ENST00000430658;ENST00000360480;ENST00000344462;ENST00000370224;ENST00000370222;ENST00000370221;ENST00000344425	D;D;D;D;D;D;D;D;D;D;D;D	0.99429	-5.56;-5.71;-5.71;-5.52;-5.72;-5.57;-5.59;-5.67;-5.51;-5.62;-5.89;-5.45	4.34	1.26	0.21427	.	0.000000	0.85682	D	0.000000	D	0.99168	0.9712	M	0.67397	2.05	0.42336	D	0.992315	D;D;D;D;D;D	0.89917	0.999;0.992;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.969;0.917;0.999;0.999;0.999;0.997	D	0.99218	1.0878	10	0.87932	D	0	-37.4882	8.5826	0.33637	0.0:0.6756:0.0:0.3244	.	331;331;331;331;331;331	B4DEP4;Q53Y30;O43526-3;O43526-2;O43526-4;O43526	.;.;.;.;.;KCNQ2_HUMAN	N	331	ENSP00000349789:K331N;ENSP00000352035:K331N;ENSP00000359246:K331N;ENSP00000346601:K331N;ENSP00000352718:K331N;ENSP00000399612:K331N;ENSP00000353668:K331N;ENSP00000339611:K331N;ENSP00000359244:K331N;ENSP00000359242:K331N;ENSP00000359241:K331N;ENSP00000345523:K331N	ENSP00000345523:K331N	K	-	3	2	KCNQ2	61540452	0.999000	0.42202	0.997000	0.53966	0.788000	0.44548	0.926000	0.28804	0.056000	0.16144	-0.215000	0.12644	AAG	KCNQ2	-	NULL	ENSG00000075043		0.617	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	KCNQ2	HGNC	protein_coding	OTTHUMT00000080353.1	45	0.00	0	C	NM_172109		62070008	62070008	-1	no_errors	ENST00000354587	ensembl	human	known	69_37n	missense	71	14.46	12	SNP	1.000	G
KCNQ5	56479	genome.wustl.edu	37	6	73713683	73713683	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:73713683G>A	ENST00000370398.1	+	2	560	c.451G>A	c.(451-453)Gag>Aag	p.E151K	KCNQ5_ENST00000355194.4_Missense_Mutation_p.E151K|KCNQ5_ENST00000342056.2_Missense_Mutation_p.E151K|KCNQ5_ENST00000403813.2_Missense_Mutation_p.E151K|KCNQ5_ENST00000402622.2_Missense_Mutation_p.E151K|KCNQ5_ENST00000370392.1_Missense_Mutation_p.E151K|KCNQ5_ENST00000414165.2_Missense_Mutation_p.E151K|KCNQ5_ENST00000355635.3_Missense_Mutation_p.E151K	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	151					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	TACCATCCCTGAGCACACAAA	0.353																																					GBM(142;1375 1859 14391 23261 44706)	dbGAP											0													193.0	163.0	173.0					6																	73713683		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.451G>A	6.37:g.73713683G>A	ENSP00000359425:p.Glu151Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.E151K	ENST00000370398.1	37	c.451	CCDS4976.1	6	.	.	.	.	.	.	.	.	.	.	G	26.7	4.765984	0.90020	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000370392;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19;-2.19;-2.19;-2.19;-2.19	5.58	5.58	0.84498	.	0.117629	0.56097	D	0.000024	D	0.88400	0.6426	L	0.61036	1.89	0.45806	D	0.998688	P;P;P;P;P;P	0.45594	0.762;0.835;0.599;0.862;0.862;0.586	P;P;B;P;B;P	0.50490	0.503;0.642;0.129;0.541;0.354;0.516	D	0.89384	0.3684	10	0.87932	D	0	.	18.7003	0.91618	0.0:0.0:1.0:0.0	.	151;151;151;151;151;151	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82;Q9NR82-4	.;.;.;.;KCNQ5_HUMAN;.	K	151	ENSP00000345055:E151K;ENSP00000347326:E151K;ENSP00000359425:E151K;ENSP00000359419:E151K;ENSP00000385501:E151K;ENSP00000347853:E151K;ENSP00000384453:E151K;ENSP00000409861:E151K	ENSP00000345055:E151K	E	+	1	0	KCNQ5	73770404	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.835000	0.75344	2.769000	0.95229	0.655000	0.94253	GAG	KCNQ5	-	NULL	ENSG00000185760		0.353	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KCNQ5	HGNC	protein_coding	OTTHUMT00000041198.3	190	0.00	0	G	NM_019842		73713683	73713683	+1	no_errors	ENST00000402622	ensembl	human	known	69_37n	missense	184	21.37	50	SNP	1.000	A
KCNQ5	56479	genome.wustl.edu	37	6	73904320	73904320	+	Missense_Mutation	SNP	T	T	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:73904320T>C	ENST00000370398.1	+	14	2091	c.1982T>C	c.(1981-1983)gTg>gCg	p.V661A	KCNQ5_ENST00000355194.4_Missense_Mutation_p.V661A|KCNQ5_ENST00000342056.2_Missense_Mutation_p.V680A|KCNQ5_ENST00000403813.2_Missense_Mutation_p.V652A|KCNQ5_ENST00000402622.2_Missense_Mutation_p.V671A|KCNQ5_ENST00000414165.2_Missense_Mutation_p.V551A|KCNQ5_ENST00000355635.3_Missense_Mutation_p.V662A	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	661					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	CAAAGCCCTGTGGATAGCAAA	0.502																																					GBM(142;1375 1859 14391 23261 44706)	dbGAP											0													95.0	94.0	94.0					6																	73904320		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.1982T>C	6.37:g.73904320T>C	ENSP00000359425:p.Val661Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.V671A	ENST00000370398.1	37	c.2012	CCDS4976.1	6	.	.	.	.	.	.	.	.	.	.	T	8.909	0.958260	0.18507	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D	0.99369	-5.58;-5.58;-5.57;-5.58;-5.58;-5.61;-5.78	5.41	4.22	0.49857	.	0.299047	0.31438	N	0.007644	D	0.94082	0.8103	L	0.43152	1.355	0.20821	N	0.999841	P;B;B;B;B	0.39022	0.655;0.041;0.024;0.041;0.013	B;B;B;B;B	0.38562	0.276;0.025;0.016;0.025;0.011	D	0.90376	0.4384	10	0.08837	T	0.75	-2.1842	5.1352	0.14932	0.0:0.1538:0.1614:0.6848	.	551;671;680;652;661	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82	.;.;.;.;KCNQ5_HUMAN	A	680;680;661;661;671;662;652;551	ENSP00000345055:V680A;ENSP00000347326:V661A;ENSP00000359425:V661A;ENSP00000385501:V671A;ENSP00000347853:V662A;ENSP00000384453:V652A;ENSP00000409861:V551A	ENSP00000345055:V680A	V	+	2	0	KCNQ5	73961041	0.499000	0.26083	0.614000	0.29051	0.880000	0.50808	1.658000	0.37376	0.858000	0.35431	0.459000	0.35465	GTG	KCNQ5	-	NULL	ENSG00000185760		0.502	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KCNQ5	HGNC	protein_coding	OTTHUMT00000041198.3	80	0.00	0	T	NM_019842		73904320	73904320	+1	no_errors	ENST00000402622	ensembl	human	known	69_37n	missense	37	48.61	35	SNP	0.950	C
KCNT1	57582	genome.wustl.edu	37	9	138645813	138645813	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:138645813C>T	ENST00000263604.3	+	5	408	c.408C>T	c.(406-408)ttC>ttT	p.F136F	KCNT1_ENST00000488444.2_Silent_p.F136F|KCNT1_ENST00000486577.2_Silent_p.F116F|KCNT1_ENST00000298480.5_Silent_p.F155F|KCNT1_ENST00000371757.2_Silent_p.F155F|KCNT1_ENST00000490355.2_Silent_p.F136F|KCNT1_ENST00000487664.1_Silent_p.F107F|KCNT1_ENST00000491806.2_Silent_p.F122F			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	136					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		ACTACTCCTTCAATGACTCGT	0.632																																						dbGAP											0													82.0	74.0	77.0					9																	138645813		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.408C>T	9.37:g.138645813C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Silent	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_2	p.F155	ENST00000263604.3	37	c.465		9																																																																																			KCNT1	-	NULL	ENSG00000107147		0.632	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	KCNT1	HGNC	protein_coding		38	0.00	0	C	NM_020822		138645813	138645813	+1	no_errors	ENST00000298480	ensembl	human	known	69_37n	silent	38	24.00	12	SNP	1.000	T
KCNT1	57582	genome.wustl.edu	37	9	138683935	138683935	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:138683935G>C	ENST00000263604.3	+	31	3621	c.3621G>C	c.(3619-3621)caG>caC	p.Q1207H	KCNT1_ENST00000488444.2_Missense_Mutation_p.Q1212H|KCNT1_ENST00000486577.2_Missense_Mutation_p.Q1190H|KCNT1_ENST00000298480.5_Missense_Mutation_p.Q1233H|KCNT1_ENST00000371757.2_Missense_Mutation_p.Q1212H|KCNT1_ENST00000490355.2_Missense_Mutation_p.Q1211H|KCNT1_ENST00000487664.1_Missense_Mutation_p.Q1188H|KCNT1_ENST00000491806.2_Missense_Mutation_p.Q1198H			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	1207					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GCAGCTCCCAGAGCCGGAAGA	0.682																																						dbGAP											0													21.0	24.0	23.0					9																	138683935		2200	4299	6499	-	-	-	SO:0001583	missense	0			AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.3621G>C	9.37:g.138683935G>C	ENSP00000263604:p.Gln1207His	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_2	p.Q1233H	ENST00000263604.3	37	c.3699		9	.	.	.	.	.	.	.	.	.	.	G	8.127	0.782184	0.16189	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T	0.24151	1.91;1.92;1.87;1.92	4.73	1.74	0.24563	.	0.397175	0.25119	U	0.032998	T	0.07188	0.0182	N	0.00926	-1.1	0.30236	N	0.795457	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.001;0.002	T	0.16808	-1.0390	10	0.32370	T	0.25	-17.4703	6.0933	0.20007	0.2225:0.4127:0.3648:0.0	.	1200;1212;1188	C9JYL2;B9EGP2;G5E9V0	.;.;.	H	1188;1233;1212;1192;1200;1214;1212;1207	ENSP00000417851:Q1188H;ENSP00000298480:Q1233H;ENSP00000360822:Q1212H;ENSP00000263604:Q1207H	ENSP00000263604:Q1207H	Q	+	3	2	KCNT1	137823756	1.000000	0.71417	0.829000	0.32907	0.516000	0.34256	1.522000	0.35921	0.434000	0.26340	0.462000	0.41574	CAG	KCNT1	-	NULL	ENSG00000107147		0.682	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	KCNT1	HGNC	protein_coding		20	0.00	0	G	NM_020822		138683935	138683935	+1	no_errors	ENST00000298480	ensembl	human	known	69_37n	missense	17	34.62	9	SNP	0.997	C
KCNT2	343450	genome.wustl.edu	37	1	196197466	196197466	+	Splice_Site	SNP	C	C	G	rs76330422		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:196197466C>G	ENST00000294725.9	-	28	4212		c.e28-1		KCNT2_ENST00000451324.2_Splice_Site|KCNT2_ENST00000367433.5_Splice_Site|KCNT2_ENST00000498426.1_Splice_Site|KCNT2_ENST00000609185.1_Splice_Site|KCNT2_ENST00000367431.4_Splice_Site			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2						potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						AATTAAGTATCTAATAAAAGA	0.358																																						dbGAP											0													41.0	41.0	41.0					1																	196197466		2203	4299	6502	-	-	-	SO:0001630	splice_region_variant	0			BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.3297-1G>C	1.37:g.196197466C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3SY59|Q5VTN1|Q6ZMT3	Splice_Site	SNP	-	e28-1	ENST00000294725.9	37	c.3297-1	CCDS1384.1	1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.866337	0.51588	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2197	0.93791	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KCNT2	194464089	1.000000	0.71417	0.977000	0.42913	0.501000	0.33797	5.139000	0.64801	2.628000	0.89032	0.650000	0.86243	.	KCNT2	-	-	ENSG00000162687		0.358	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNT2	HGNC	protein_coding	OTTHUMT00000086418.2	64	0.00	0	C	NM_198503	Intron	196197466	196197466	-1	no_errors	ENST00000294725	ensembl	human	known	69_37n	splice_site	88	16.19	17	SNP	0.998	G
KCTD1	284252	genome.wustl.edu	37	18	24081182	24081182	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr18:24081182G>A	ENST00000408011.3	-	2	577	c.18C>T	c.(16-18)atC>atT	p.I6I	KCTD1_ENST00000580059.1_Silent_p.I6I|KCTD1_ENST00000417602.1_Silent_p.I614I|KCTD1_ENST00000579973.1_Silent_p.I6I|KCTD1_ENST00000317932.7_Silent_p.I6I	NM_001136205.2	NP_001129677.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1	6					negative regulation of transcription, DNA-templated (GO:0045892)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			GGGATCTAGTGATCAGAGGTC	0.453																																						dbGAP											0													253.0	225.0	235.0					18																	24081182		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF542549	CCDS11888.1	18q11.2	2013-09-20	2013-06-20		ENSG00000134504	ENSG00000134504			18249	protein-coding gene	gene with protein product		613420	"""potassium channel tetramerisation domain containing 1"""	C18orf5			Standard	NM_001142730		Approved		uc010xbj.3	Q719H9	OTTHUMG00000131947	ENST00000408011.3:c.18C>T	18.37:g.24081182G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1F5	Silent	SNP	pfam_DUF3504,pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.I614	ENST00000408011.3	37	c.1842	CCDS11888.1	18																																																																																			KCTD1	-	NULL	ENSG00000134504		0.453	KCTD1-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	KCTD1	HGNC	protein_coding	OTTHUMT00000446265.1	226	0.00	0	G	XM_209091		24081182	24081182	-1	no_errors	ENST00000417602	ensembl	human	known	69_37n	silent	112	33.73	57	SNP	1.000	A
KCTD1	284252	genome.wustl.edu	37	18	24127738	24127738	+	Intron	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr18:24127738C>G	ENST00000408011.3	-	1	545				KCTD1_ENST00000580059.1_5'Flank|KCTD1_ENST00000417602.1_Missense_Mutation_p.E255Q|KCTD1_ENST00000579973.1_Intron|KCTD1_ENST00000317932.7_Intron	NM_001136205.2	NP_001129677.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1						negative regulation of transcription, DNA-templated (GO:0045892)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			CTGCGCAGCTCGGGGTCCTTG	0.677																																						dbGAP											0													42.0	47.0	45.0					18																	24127738		692	1591	2283	-	-	-	SO:0001627	intron_variant	0			AF542549	CCDS11888.1	18q11.2	2013-09-20	2013-06-20		ENSG00000134504	ENSG00000134504			18249	protein-coding gene	gene with protein product		613420	"""potassium channel tetramerisation domain containing 1"""	C18orf5			Standard	NM_001142730		Approved		uc010xbj.3	Q719H9	OTTHUMG00000131947	ENST00000408011.3:c.14+1116G>C	18.37:g.24127738C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1F5	Missense_Mutation	SNP	pfam_DUF3504,pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.E255Q	ENST00000408011.3	37	c.763	CCDS11888.1	18	.	.	.	.	.	.	.	.	.	.	C	16.13	3.035914	0.54896	.	.	ENSG00000134504	ENST00000417602	T	0.79247	-1.25	4.53	4.53	0.55603	.	.	.	.	.	D	0.84969	0.5590	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.86481	0.1791	6	0.54805	T	0.06	.	16.2892	0.82738	0.0:1.0:0.0:0.0	.	.	.	.	Q	255	ENSP00000408405:E255Q	ENSP00000408405:E255Q	E	-	1	0	KCTD1	22381736	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.224000	0.65288	2.073000	0.62155	0.563000	0.77884	GAG	KCTD1	-	NULL	ENSG00000134504		0.677	KCTD1-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	KCTD1	HGNC	protein_coding	OTTHUMT00000446265.1	47	0.00	0	C	XM_209091		24127738	24127738	-1	no_errors	ENST00000417602	ensembl	human	known	69_37n	missense	24	31.43	11	SNP	1.000	G
RABGEF1	27342	genome.wustl.edu	37	7	66274155	66274155	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:66274155G>A	ENST00000284957.5	+	9	1437	c.1360G>A	c.(1360-1362)Gag>Aag	p.E454K	RABGEF1_ENST00000439720.2_Missense_Mutation_p.E467K|RABGEF1_ENST00000450873.2_Missense_Mutation_p.E454K|RABGEF1_ENST00000437078.2_Missense_Mutation_p.E468K|GTF2IRD1P1_ENST00000457166.1_RNA|KCTD7_ENST00000380828.2_Missense_Mutation_p.E494K|KCTD7_ENST00000451741.2_Missense_Mutation_p.E454K|RABGEF1_ENST00000484547.2_3'UTR|KCTD7_ENST00000510829.2_Missense_Mutation_p.E454K			Q9UJ41	RABX5_HUMAN	RAB guanine nucleotide exchange factor (GEF) 1	671	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein targeting to membrane (GO:0006612)	early endosome (GO:0005769)	DNA binding (GO:0003677)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						AGACATCGTTGAGAAATACCC	0.408																																						dbGAP											0													85.0	82.0	83.0					7																	66274155		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ250042	CCDS5535.1, CCDS69308.1, CCDS75610.1	7q11.21	2010-07-09			ENSG00000154710	ENSG00000154710			17676	protein-coding gene	gene with protein product		609700				12505986, 11098082	Standard	NM_014504		Approved	rabex-5, RABEX5	uc003tvh.3	Q9UJ41	OTTHUMG00000129547	ENST00000284957.5:c.1360G>A	7.37:g.66274155G>A	ENSP00000284957:p.Glu454Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZM7|Q3HKR2|Q3HKR3|Q53FG0	Missense_Mutation	SNP	pfam_VPS9,pfam_Znf_A20,smart_Znf_A20,smart_VPS9_subgr,pfscan_VPS9,pfscan_Znf_A20	p.E494K	ENST00000284957.5	37	c.1480	CCDS5535.1	7	.	.	.	.	.	.	.	.	.	.	G	19.43	3.825967	0.71143	.	.	ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000154710;ENSG00000154710;ENSG00000154710;ENSG00000154710	ENST00000380827;ENST00000380828;ENST00000510829;ENST00000451741;ENST00000539561;ENST00000284957;ENST00000450873;ENST00000439720;ENST00000437078	T;T;T;T;T;T;T	0.47177	0.85;0.86;0.86;0.86;0.86;0.85;0.85	6.02	6.02	0.97574	.	0.042977	0.85682	D	0.000000	T	0.46171	0.1379	L	0.51422	1.61	0.80722	D	1	P;B;B	0.36874	0.572;0.126;0.138	B;B;B	0.34590	0.085;0.058;0.186	T	0.33979	-0.9847	10	0.37606	T	0.19	-24.1826	19.5289	0.95219	0.0:0.0:1.0:0.0	.	468;288;671	B4DZM7;B3KMF1;Q9UJ41	.;.;RABX5_HUMAN	K	538;494;454;454;370;454;454;467;468	ENSP00000370208:E494K;ENSP00000421124:E454K;ENSP00000398177:E454K;ENSP00000284957:E454K;ENSP00000415815:E454K;ENSP00000403429:E467K;ENSP00000390480:E468K	ENSP00000370207:E538K	E	+	1	0	RABGEF1;KCTD7	65911590	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.329000	0.79170	2.865000	0.98341	0.655000	0.94253	GAG	KCTD7	-	NULL	ENSG00000243335		0.408	RABGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD7	HGNC	protein_coding	OTTHUMT00000251737.3	44	0.00	0	G	NM_014504		66274155	66274155	+1	no_errors	ENST00000380828	ensembl	human	known	69_37n	missense	48	12.73	7	SNP	1.000	A
KDELC1	79070	genome.wustl.edu	37	13	103443633	103443633	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr13:103443633C>T	ENST00000376004.4	-	5	1156	c.820G>A	c.(820-822)Gat>Aat	p.D274N	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	274						endoplasmic reticulum lumen (GO:0005788)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AGAACAGAATCAGTCAAATCG	0.443																																						dbGAP											0													252.0	270.0	264.0					13																	103443633		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC001297	CCDS9504.1	13q33	2010-11-18			ENSG00000134901	ENSG00000134901			19350	protein-coding gene	gene with protein product		611613					Standard	NM_024089		Approved	MGC5302, EP58	uc001vpq.4	Q6UW63	OTTHUMG00000017307	ENST00000376004.4:c.820G>A	13.37:g.103443633C>T	ENSP00000365172:p.Asp274Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53HL3|Q9BVD2	Missense_Mutation	SNP	pfam_LipoPS_modifying,pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,smart_LipoPS_modifying,pfscan_Filamin/ABP280_repeat-like	p.D274N	ENST00000376004.4	37	c.820	CCDS9504.1	13	.	.	.	.	.	.	.	.	.	.	C	17.36	3.369060	0.61624	.	.	ENSG00000134901	ENST00000376004	T	0.17213	2.29	5.91	5.04	0.67666	.	0.192461	0.56097	D	0.000036	T	0.18509	0.0444	L	0.29908	0.895	0.53688	D	0.999977	P	0.43231	0.801	P	0.46419	0.516	T	0.03086	-1.1074	10	0.16420	T	0.52	.	16.8329	0.85949	0.0:0.8714:0.1286:0.0	.	274	Q6UW63	KDEL1_HUMAN	N	274	ENSP00000365172:D274N	ENSP00000365172:D274N	D	-	1	0	KDELC1	102241634	1.000000	0.71417	0.857000	0.33713	0.856000	0.48823	7.818000	0.86416	1.447000	0.47661	0.655000	0.94253	GAT	KDELC1	-	pfam_LipoPS_modifying,smart_LipoPS_modifying	ENSG00000134901		0.443	KDELC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDELC1	HGNC	protein_coding	OTTHUMT00000045699.1	91	0.00	0	C			103443633	103443633	-1	no_errors	ENST00000376004	ensembl	human	known	69_37n	missense	80	24.53	26	SNP	1.000	T
KDELC1	79070	genome.wustl.edu	37	13	103449214	103449214	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr13:103449214G>C	ENST00000376004.4	-	2	664	c.328C>G	c.(328-330)Ctg>Gtg	p.L110V	KDELC1_ENST00000460338.1_5'UTR|BIVM_ENST00000448849.2_5'Flank|BIVM_ENST00000419638.1_5'Flank|BIVM_ENST00000257336.1_5'Flank	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	110						endoplasmic reticulum lumen (GO:0005788)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TCCACCTTCAGATTTTTGTAG	0.358																																						dbGAP											0													134.0	128.0	130.0					13																	103449214		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC001297	CCDS9504.1	13q33	2010-11-18			ENSG00000134901	ENSG00000134901			19350	protein-coding gene	gene with protein product		611613					Standard	NM_024089		Approved	MGC5302, EP58	uc001vpq.4	Q6UW63	OTTHUMG00000017307	ENST00000376004.4:c.328C>G	13.37:g.103449214G>C	ENSP00000365172:p.Leu110Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53HL3|Q9BVD2	Missense_Mutation	SNP	pfam_LipoPS_modifying,pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,smart_LipoPS_modifying,pfscan_Filamin/ABP280_repeat-like	p.L110V	ENST00000376004.4	37	c.328	CCDS9504.1	13	.	.	.	.	.	.	.	.	.	.	G	13.76	2.334047	0.41297	.	.	ENSG00000134901	ENST00000376004	T	0.22539	1.95	5.69	3.96	0.45880	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.144745	0.47852	D	0.000220	T	0.27454	0.0674	M	0.69523	2.12	0.49483	D	0.999795	B	0.24043	0.096	B	0.34824	0.19	T	0.04103	-1.0977	10	0.42905	T	0.14	.	9.228	0.37418	0.129:0.0:0.7512:0.1198	.	110	Q6UW63	KDEL1_HUMAN	V	110	ENSP00000365172:L110V	ENSP00000365172:L110V	L	-	1	2	KDELC1	102247215	1.000000	0.71417	0.957000	0.39632	0.977000	0.68977	3.287000	0.51732	0.866000	0.35629	0.655000	0.94253	CTG	KDELC1	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000134901		0.358	KDELC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDELC1	HGNC	protein_coding	OTTHUMT00000045699.1	235	0.00	0	G			103449214	103449214	-1	no_errors	ENST00000376004	ensembl	human	known	69_37n	missense	45	76.92	150	SNP	1.000	C
KDELR2	11014	genome.wustl.edu	37	7	6502626	6502626	+	3'UTR	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:6502626C>T	ENST00000258739.4	-	0	969				KDELR2_ENST00000463747.1_Intron|KDELR2_ENST00000490996.1_Missense_Mutation_p.E178K|DAGLB_ENST00000436575.1_Intron	NM_006854.3	NP_006845.1	P33947	ERD22_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2						intracellular protein transport (GO:0006886)|protein retention in ER lumen (GO:0006621)|vesicle-mediated transport (GO:0016192)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	KDEL sequence binding (GO:0005046)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		CTCTTTTCCTCTGCGTTTTTA	0.343																																						dbGAP											0													77.0	79.0	78.0					7																	6502626		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			X63745	CCDS5351.1, CCDS43550.1	7p	2008-05-02			ENSG00000136240	ENSG00000136240			6305	protein-coding gene	gene with protein product		609024				1316805, 1325562	Standard	NM_006854		Approved	ELP-1, ERD2.2	uc003sqe.4	P33947	OTTHUMG00000023103	ENST00000258739.4:c.*146G>A	7.37:g.6502626C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D2P4|Q6IPC5|Q96E30	Missense_Mutation	SNP	pfam_ER_ret_rcpt,prints_ER_ret_rcpt	p.E178K	ENST00000258739.4	37	c.532	CCDS5351.1	7	.	.	.	.	.	.	.	.	.	.	C	15.25	2.778905	0.49891	.	.	ENSG00000136240	ENST00000490996	.	.	.	5.36	4.48	0.54585	.	.	.	.	.	T	0.38852	0.1056	.	.	.	0.21499	N	0.999664	B	0.02656	0.0	B	0.06405	0.002	T	0.34825	-0.9813	7	0.87932	D	0	.	10.0463	0.42188	0.0:0.8463:0.0:0.1537	.	178	P33947-2	.	K	178	.	ENSP00000420501:E178K	E	-	1	0	KDELR2	6469151	1.000000	0.71417	0.186000	0.23195	0.988000	0.76386	2.895000	0.48648	1.250000	0.43966	0.655000	0.94253	GAG	KDELR2	-	NULL	ENSG00000136240		0.343	KDELR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDELR2	HGNC	protein_coding	OTTHUMT00000059424.2	125	0.00	0	C			6502626	6502626	-1	no_errors	ENST00000490996	ensembl	human	known	69_37n	missense	80	27.93	31	SNP	0.931	T
KDM1A	23028	genome.wustl.edu	37	1	23395041	23395041	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:23395041G>C	ENST00000356634.3	+	9	1266	c.1117G>C	c.(1117-1119)Gag>Cag	p.E373Q	KDM1A_ENST00000400181.4_Missense_Mutation_p.E397Q|RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000542151.1_Missense_Mutation_p.E397Q	NM_015013.3	NP_055828.2	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	373	Demethylase activity.				blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|histone H3-K4 demethylation (GO:0034720)|histone H3-K9 demethylation (GO:0033169)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of DNA binding (GO:0043392)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of protein binding (GO:0032091)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein demethylation (GO:0006482)|regulation of primitive erythrocyte differentiation (GO:0010725)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|demethylase activity (GO:0032451)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-K4 specific) (GO:0032453)|histone demethylase activity (H3-K9 specific) (GO:0032454)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|MRF binding (GO:0043426)|oxidoreductase activity (GO:0016491)|p53 binding (GO:0002039)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GGTTCCTAAAGAGAAAGATGA	0.358																																						dbGAP											0													78.0	72.0	74.0					1																	23395041		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL031428	CCDS30627.1, CCDS53278.1	1p36.12	2011-07-01	2009-09-29	2009-09-29	ENSG00000004487	ENSG00000004487		"""Chromatin-modifying enzymes / K-demethylases"""	29079	protein-coding gene	gene with protein product		609132	"""amine oxidase (flavin containing) domain 2"", ""lysine (K)-specific demethylase 1"""	AOF2, KDM1		9628581, 12493763	Standard	NM_015013		Approved	KIAA0601, BHC110, LSD1	uc001bgj.2	O60341	OTTHUMG00000003220	ENST00000356634.3:c.1117G>C	1.37:g.23395041G>C	ENSP00000349049:p.Glu373Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MWP9|Q5TH94|Q5TH95|Q86VT7|Q8IXK4|Q8NDP6|Q8TAZ3|Q96AW4	Missense_Mutation	SNP	pfam_Amino_oxidase,pfam_SWIRM,pfam_FAD-dep_OxRdtase,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,superfamily_Homeodomain-like,pirsf_Hist_Lys-spec_deMease,pfscan_SWIRM	p.E397Q	ENST00000356634.3	37	c.1189	CCDS30627.1	1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.873057	0.72180	.	.	ENSG00000004487	ENST00000356634;ENST00000400181;ENST00000542151	D;D;D	0.93189	-3.18;-3.18;-3.18	5.82	5.82	0.92795	Amine oxidase (1);	0.108210	0.64402	D	0.000005	D	0.90266	0.6956	L	0.39085	1.19	0.80722	D	1	P;P	0.40107	0.703;0.509	B;B	0.38683	0.279;0.176	D	0.88582	0.3137	10	0.27785	T	0.31	-17.2969	19.0835	0.93192	0.0:0.0:1.0:0.0	.	397;373	O60341-2;O60341	.;KDM1A_HUMAN	Q	373;397;397	ENSP00000349049:E373Q;ENSP00000383042:E397Q;ENSP00000439072:E397Q	ENSP00000349049:E373Q	E	+	1	0	KDM1A	23267628	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.845000	0.99498	2.767000	0.95098	0.655000	0.94253	GAG	KDM1A	-	pfam_Amino_oxidase,pirsf_Hist_Lys-spec_deMease	ENSG00000004487		0.358	KDM1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KDM1A	HGNC	protein_coding	OTTHUMT00000008880.3	73	0.00	0	G	NM_015013		23395041	23395041	+1	no_errors	ENST00000542151	ensembl	human	known	69_37n	missense	52	22.39	15	SNP	1.000	C
KDM2A	22992	genome.wustl.edu	37	11	66999270	66999270	+	Missense_Mutation	SNP	G	G	A	rs369409613		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:66999270G>A	ENST00000529006.2	+	12	1764	c.1318G>A	c.(1318-1320)Gat>Aat	p.D440N	KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_Missense_Mutation_p.D440N	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	440					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						ACAAGTGTGGGATCCCCAGTG	0.532																																						dbGAP											0													89.0	90.0	90.0					11																	66999270		1952	4129	6081	-	-	-	SO:0001583	missense	0			BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13606	protein-coding gene	gene with protein product	"""F-box protein FBL11"", ""jumonji C domain-containing histone demethylase 1A"""	605657	"""F-box and leucine-rich repeat protein 11"""	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.1318G>A	11.37:g.66999270G>A	ENSP00000432786:p.Asp440Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Missense_Mutation	SNP	pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.D440N	ENST00000529006.2	37	c.1318	CCDS44657.1	11	.	.	.	.	.	.	.	.	.	.	G	16.79	3.219766	0.58560	.	.	ENSG00000173120	ENST00000398645;ENST00000529006	T;T	0.39997	1.05;1.05	5.76	4.85	0.62838	.	0.524814	0.20240	N	0.096315	T	0.25269	0.0614	N	0.14661	0.345	0.80722	D	1	B	0.21309	0.054	B	0.14023	0.01	T	0.06409	-1.0828	10	0.18276	T	0.48	-16.303	12.2652	0.54674	0.0779:0.0:0.9221:0.0	.	440	Q9Y2K7	KDM2A_HUMAN	N	440	ENSP00000381640:D440N;ENSP00000432786:D440N	ENSP00000381640:D440N	D	+	1	0	KDM2A	66755846	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.424000	0.73366	1.574000	0.49760	0.643000	0.83706	GAT	KDM2A	-	NULL	ENSG00000173120		0.532	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM2A	HGNC	protein_coding	OTTHUMT00000393140.2	53	0.00	0	G	NM_012308		66999270	66999270	+1	no_errors	ENST00000529006	ensembl	human	known	69_37n	missense	79	28.18	31	SNP	1.000	A
KDM3B	51780	genome.wustl.edu	37	5	137721943	137721943	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:137721943G>C	ENST00000314358.5	+	7	1213	c.1013G>C	c.(1012-1014)aGa>aCa	p.R338T	KDM3B_ENST00000542866.1_5'Flank|KDM3B_ENST00000394866.1_Intron	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	338					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						CTGGATCAGAGAGCCAAGCAG	0.562																																						dbGAP											0													155.0	159.0	158.0					5																	137721943		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.1013G>C	5.37:g.137721943G>C	ENSP00000326563:p.Arg338Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.R338T	ENST00000314358.5	37	c.1013	CCDS34242.1	5	.	.	.	.	.	.	.	.	.	.	G	14.31	2.496630	0.44352	.	.	ENSG00000120733	ENST00000314358;ENST00000545151	T	0.63744	-0.06	5.59	5.59	0.84812	.	0.401658	0.27773	N	0.017911	T	0.46795	0.1411	L	0.29908	0.895	0.80722	D	1	B	0.33694	0.421	B	0.24848	0.056	T	0.42999	-0.9418	10	0.26408	T	0.33	-22.2463	13.8271	0.63357	0.0736:0.0:0.9264:0.0	.	338	Q7LBC6	KDM3B_HUMAN	T	338;128	ENSP00000326563:R338T	ENSP00000326563:R338T	R	+	2	0	KDM3B	137749842	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.650000	0.54424	2.614000	0.88457	0.557000	0.71058	AGA	KDM3B	-	NULL	ENSG00000120733		0.562	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM3B	HGNC	protein_coding	OTTHUMT00000373597.1	97	0.00	0	G	NM_016604		137721943	137721943	+1	no_errors	ENST00000314358	ensembl	human	known	69_37n	missense	68	29.90	29	SNP	1.000	C
KDM4C	23081	genome.wustl.edu	37	9	6880058	6880058	+	Missense_Mutation	SNP	C	C	G	rs182255463	byFrequency	TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:6880058C>G	ENST00000381309.3	+	6	1241	c.676C>G	c.(676-678)Caa>Gaa	p.Q226E	KDM4C_ENST00000442236.2_Missense_Mutation_p.Q45E|KDM4C_ENST00000536108.1_Missense_Mutation_p.Q45E|KDM4C_ENST00000543771.1_Missense_Mutation_p.Q226E|KDM4C_ENST00000381306.3_Missense_Mutation_p.Q226E|KDM4C_ENST00000489243.1_3'UTR|KDM4C_ENST00000535193.1_Missense_Mutation_p.Q248E	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	226	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						AAGACTAGCTCAAGGTAAAAC	0.294													C|||	2	0.000399361	0.0	0.0	5008	,	,		17010	0.002		0.0	False		,,,				2504	0.0					dbGAP											0													67.0	66.0	67.0					9																	6880058		2203	4299	6502	-	-	-	SO:0001583	missense	0			AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	17071	protein-coding gene	gene with protein product	"""tudor domain containing 14C"""	605469	"""jumonji domain containing 2C"""	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.676C>G	9.37:g.6880058C>G	ENSP00000370710:p.Gln226Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,superfamily_Chorismate_mutase_type_II,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.Q226E	ENST00000381309.3	37	c.676	CCDS6471.1	9	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	12.39	1.923037	0.33908	.	.	ENSG00000107077	ENST00000535193;ENST00000543771;ENST00000381309;ENST00000381306;ENST00000442236;ENST00000536108	T;T;T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55;-0.55;-0.55	5.16	4.22	0.49857	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.286576	0.35805	N	0.002976	T	0.49457	0.1558	N	0.10707	0.03	0.80722	D	1	P;P;P;P;B;P	0.42456	0.78;0.708;0.547;0.664;0.374;0.491	B;B;B;B;B;B	0.39465	0.3;0.198;0.188;0.159;0.167;0.178	T	0.50048	-0.8873	10	0.17369	T	0.5	-0.1124	15.2484	0.73523	0.1405:0.8595:0.0:0.0	.	45;226;226;248;226;226	E7EV17;F5H347;B4E1Y4;F5H7P0;Q9H3R0;Q9H3R0-2	.;.;.;.;KDM4C_HUMAN;.	E	248;226;226;226;45;45	ENSP00000442382:Q248E;ENSP00000445427:Q226E;ENSP00000370710:Q226E;ENSP00000370707:Q226E;ENSP00000409353:Q45E;ENSP00000440656:Q45E	ENSP00000370707:Q226E	Q	+	1	0	KDM4C	6870058	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.516000	0.53436	2.677000	0.91161	0.591000	0.81541	CAA	KDM4C	-	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	ENSG00000107077		0.294	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4C	HGNC	protein_coding	OTTHUMT00000051692.1	102	0.00	0	C	NM_015061		6880058	6880058	+1	no_errors	ENST00000381309	ensembl	human	known	69_37n	missense	108	16.92	22	SNP	1.000	G
KDM5B	10765	genome.wustl.edu	37	1	202702755	202702755	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:202702755G>A	ENST00000367265.3	-	23	4847	c.3683C>T	c.(3682-3684)cCa>cTa	p.P1228L	KDM5B_ENST00000367264.2_Missense_Mutation_p.P1264L	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1228					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						TTTCTCTAATGGAGGTTTCTC	0.522																																						dbGAP											0													55.0	56.0	56.0					1																	202702755		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.3683C>T	1.37:g.202702755G>A	ENSP00000356234:p.Pro1228Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,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.P1228L	ENST00000367265.3	37	c.3683	CCDS30974.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.120857	0.94385	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	T;T;T	0.00958	5.5;5.5;5.5	6.09	6.09	0.99107	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.091285	0.85682	D	0.000000	T	0.05686	0.0149	M	0.63843	1.955	0.80722	D	1	D;P	0.89917	1.0;0.944	D;P	0.91635	0.999;0.694	T	0.15009	-1.0452	10	0.62326	D	0.03	-17.2369	20.6935	0.99705	0.0:0.0:1.0:0.0	.	1264;1228	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	L	1228;1070;1264;1070	ENSP00000356234:P1228L;ENSP00000356233:P1264L;ENSP00000235790:P1070L	ENSP00000235790:P1070L	P	-	2	0	KDM5B	200969378	1.000000	0.71417	0.964000	0.40570	0.997000	0.91878	7.649000	0.83500	2.897000	0.99335	0.643000	0.83706	CCA	KDM5B	-	superfamily_Znf_FYVE_PHD	ENSG00000117139		0.522	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM5B	HGNC	protein_coding	OTTHUMT00000099184.2	45	0.00	0	G	NM_006618		202702755	202702755	-1	no_errors	ENST00000367265	ensembl	human	known	69_37n	missense	62	37.62	38	SNP	1.000	A
KDM6A	7403	genome.wustl.edu	37	X	44820632	44820632	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:44820632C>G	ENST00000377967.4	+	3	370	c.329C>G	c.(328-330)cCa>cGa	p.P110R	KDM6A_ENST00000543216.1_Missense_Mutation_p.P110R|KDM6A_ENST00000536777.1_Missense_Mutation_p.P110R|KDM6A_ENST00000382899.4_Missense_Mutation_p.P110R	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	110	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0(14)|p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GAAGATTATCCAAAAGGTAAT	0.303			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	dbGAP		Rec	yes		X	Xp11.2	7403	"""lysine (K)-specific demethylase 6A, UTX"""		"""E, L"""	20	No detectable mRNA/protein(14)|Whole gene deletion(6)	haematopoietic_and_lymphoid_tissue(12)|oesophagus(4)|breast(2)|pancreas(2)											91.0	78.0	82.0					X																	44820632		2202	4296	6498	-	-	-	SO:0001583	missense	0			AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.329C>G	X.37:g.44820632C>G	ENSP00000367203:p.Pro110Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q52LL9|Q5JVQ7	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TPR-1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.P110R	ENST00000377967.4	37	c.329	CCDS14265.1	X	.	.	.	.	.	.	.	.	.	.	C	18.06	3.539381	0.65085	.	.	ENSG00000147050	ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216;ENST00000542299	T;T;T;T	0.73469	2.39;2.39;-0.75;2.39	5.65	5.65	0.86999	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.153488	0.64402	D	0.000014	T	0.79969	0.4538	L	0.50333	1.59	0.80722	D	1	P;P;P;P;P	0.45957	0.587;0.848;0.869;0.622;0.869	B;P;P;B;B	0.52309	0.221;0.628;0.695;0.169;0.424	T	0.81353	-0.0971	10	0.72032	D	0.01	-0.9401	18.9572	0.92664	0.0:1.0:0.0:0.0	.	110;110;110;110;110	F8W8R6;F5H6S1;B7ZKN5;B4E253;O15550	.;.;.;.;KDM6A_HUMAN	R	110	ENSP00000367203:P110R;ENSP00000437405:P110R;ENSP00000372355:P110R;ENSP00000443078:P110R	ENSP00000367203:P110R	P	+	2	0	KDM6A	44705576	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.523000	0.67099	2.512000	0.84698	0.594000	0.82650	CCA	KDM6A	-	smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000147050		0.303	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM6A	HGNC	protein_coding	OTTHUMT00000056324.1	155	0.00	0	C	NM_021140		44820632	44820632	+1	no_errors	ENST00000382899	ensembl	human	known	69_37n	missense	146	15.61	27	SNP	1.000	G
KDR	3791	genome.wustl.edu	37	4	55958879	55958879	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:55958879G>C	ENST00000263923.4	-	22	3269	c.2974C>G	c.(2974-2976)Cct>Gct	p.P992A	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	992	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|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 focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGATCTTCAGGAGCTGTCCAA	0.438			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												dbGAP		Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	0													84.0	74.0	78.0					4																	55958879		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.2974C>G	4.37:g.55958879G>C	ENSP00000263923:p.Pro992Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR2_rcpt,prints_Tyr_kinase_VEGFR_rcpt_N	p.P992A	ENST00000263923.4	37	c.2974	CCDS3497.1	4	.	.	.	.	.	.	.	.	.	.	G	1.639	-0.517031	0.04171	.	.	ENSG00000128052	ENST00000263923	D	0.88509	-2.39	5.95	0.84	0.18912	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.398007	0.28414	N	0.015438	T	0.70334	0.3212	N	0.11313	0.125	0.22112	N	0.999351	B	0.02656	0.0	B	0.04013	0.001	T	0.56444	-0.7978	10	0.02654	T	1	.	7.205	0.25901	0.5848:0.1225:0.2927:0.0	.	992	P35968	VGFR2_HUMAN	A	992	ENSP00000263923:P992A	ENSP00000263923:P992A	P	-	1	0	KDR	55653636	0.867000	0.29959	0.990000	0.47175	0.675000	0.39556	0.005000	0.13129	0.506000	0.28125	0.563000	0.77884	CCT	KDR	-	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	ENSG00000128052		0.438	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDR	HGNC	protein_coding	OTTHUMT00000250645.1	91	0.00	0	G			55958879	55958879	-1	no_errors	ENST00000263923	ensembl	human	known	69_37n	missense	60	24.05	19	SNP	0.337	C
KERA	11081	genome.wustl.edu	37	12	91449308	91449308	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:91449308C>G	ENST00000266719.3	-	2	998	c.751G>C	c.(751-753)Gat>Cat	p.D251H		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	251					carbohydrate metabolic process (GO:0005975)|cornea development in camera-type eye (GO:0061303)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|response to stimulus (GO:0050896)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						AGACCCTCATCTGACAGTTTG	0.373																																						dbGAP											0													114.0	107.0	109.0					12																	91449308		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF063301	CCDS9037.1	12q21.3-q22	2014-09-17				ENSG00000139330		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	6309	protein-coding gene	gene with protein product	"""keratocan proteoglycan"""	603288		CNA2		10565548, 10802664	Standard	NM_007035		Approved	SLRR2B	uc001tbl.3	O60938		ENST00000266719.3:c.751G>C	12.37:g.91449308C>G	ENSP00000266719:p.Asp251His	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.D251H	ENST00000266719.3	37	c.751	CCDS9037.1	12	.	.	.	.	.	.	.	.	.	.	C	16.24	3.068097	0.55539	.	.	ENSG00000139330	ENST00000266719	T	0.19250	2.16	5.91	5.91	0.95273	.	0.085714	0.85682	D	0.000000	T	0.36963	0.0986	L	0.41492	1.28	0.50467	D	0.999872	D	0.76494	0.999	D	0.71414	0.973	T	0.02047	-1.1223	10	0.56958	D	0.05	-30.0804	14.4483	0.67367	0.0:0.9301:0.0:0.0699	.	251	O60938	KERA_HUMAN	H	251	ENSP00000266719:D251H	ENSP00000266719:D251H	D	-	1	0	KERA	89973439	1.000000	0.71417	0.998000	0.56505	0.714000	0.41099	4.507000	0.60434	2.813000	0.96785	0.655000	0.94253	GAT	KERA	-	NULL	ENSG00000139330		0.373	KERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KERA	HGNC	protein_coding	OTTHUMT00000407149.2	85	0.00	0	C	NM_007035		91449308	91449308	-1	no_errors	ENST00000266719	ensembl	human	known	69_37n	missense	42	59.81	64	SNP	0.998	G
KIAA0020	9933	genome.wustl.edu	37	9	2811570	2811570	+	Missense_Mutation	SNP	C	C	T	rs551241677		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:2811570C>T	ENST00000397885.2	-	15	1632	c.1426G>A	c.(1426-1428)Gag>Aag	p.E476K		NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	476	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.					endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		CTGCGGACCTCTGTATCTTTC	0.428													C|||	1	0.000199681	0.0	0.0	5008	,	,		20374	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													76.0	77.0	76.0					9																	2811570		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL832239	CCDS6448.2	9p24.2	2012-11-29			ENSG00000080608	ENSG00000080608			29676	protein-coding gene	gene with protein product	"""penguin homolog (Drosophila)"", ""minor histocompatibility antigen HA-8"""	609960				7584026, 7584028, 21266351	Standard	NM_014878		Approved	XTP5, PEN, PUF6, hPUF-A, HA-8	uc003zhp.1	Q15397	OTTHUMG00000019450	ENST00000397885.2:c.1426G>A	9.37:g.2811570C>T	ENSP00000380982:p.Glu476Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K804|Q547G7|Q5SZY9|Q6IB47|Q96B27|Q96L78|Q96L79|Q96L80	Missense_Mutation	SNP	pfam_CPL,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt	p.E476K	ENST00000397885.2	37	c.1426	CCDS6448.2	9	.	.	.	.	.	.	.	.	.	.	C	10.59	1.391951	0.25118	.	.	ENSG00000080608	ENST00000397885	T	0.13657	2.57	5.97	3.8	0.43715	CPL (1);Armadillo-like helical (1);Armadillo-type fold (1);	1.085230	0.06850	N	0.797154	T	0.12178	0.0296	L	0.36672	1.1	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.16722	0.008;0.016	T	0.36817	-0.9732	10	0.12766	T	0.61	-11.7769	9.4012	0.38433	0.0:0.7371:0.1295:0.1334	.	336;476	B2RDG4;Q15397	.;K0020_HUMAN	K	476	ENSP00000380982:E476K	ENSP00000380982:E476K	E	-	1	0	KIAA0020	2801570	0.002000	0.14202	0.822000	0.32727	0.985000	0.73830	1.735000	0.38176	1.507000	0.48752	0.655000	0.94253	GAG	KIAA0020	-	pfam_CPL,superfamily_ARM-type_fold,pfscan_Pumilio_RNA-bd_rpt	ENSG00000080608		0.428	KIAA0020-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0020	HGNC	protein_coding	OTTHUMT00000051529.3	64	0.00	0	C	NM_014878		2811570	2811570	-1	no_errors	ENST00000397885	ensembl	human	known	69_37n	missense	84	26.96	31	SNP	0.001	T
KIAA0100	9703	genome.wustl.edu	37	17	26965612	26965612	+	Silent	SNP	G	G	A	rs199509945		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:26965612G>A	ENST00000528896.2	-	12	1352	c.1278C>T	c.(1276-1278)tcC>tcT	p.S426S	KIAA0100_ENST00000389003.3_Silent_p.S283S|RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000544884.1_Silent_p.S283S	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	426						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TGTTGACATTGGAGATGGAGG	0.438																																						dbGAP											0													161.0	153.0	156.0					17																	26965612		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.1278C>T	17.37:g.26965612G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Silent	SNP	pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom	p.S426	ENST00000528896.2	37	c.1278	CCDS32595.1	17																																																																																			KIAA0100	-	pfam_FMP27_N	ENSG00000007202		0.438	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0100	HGNC	protein_coding	OTTHUMT00000390571.3	100	0.00	0	G	NM_014680		26965612	26965612	-1	no_errors	ENST00000005905	ensembl	human	known	69_37n	silent	130	19.25	31	SNP	1.000	A
KIAA0196	9897	genome.wustl.edu	37	8	126052129	126052129	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:126052129C>T	ENST00000318410.7	-	24	3211	c.2862G>A	c.(2860-2862)atG>atA	p.M954I	KIAA0196-AS1_ENST00000519140.1_RNA|KIAA0196_ENST00000517845.1_Missense_Mutation_p.M806I	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	954					cell death (GO:0008219)|endosomal transport (GO:0016197)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|WASH complex (GO:0071203)				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TCAGAATCTGCATCTGCCCAA	0.408																																						dbGAP											0													66.0	61.0	62.0					8																	126052129		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6355.1	8q24.13	2014-05-09			ENSG00000164961	ENSG00000164961			28984	protein-coding gene	gene with protein product	"""strumpellin"""	610657	"""spastic paraplegia 8 (autosomal dominant)"""	SPG8		9973294, 17160902, 23085491	Standard	NM_014846		Approved		uc003yrt.3	Q12768	OTTHUMG00000164991	ENST00000318410.7:c.2862G>A	8.37:g.126052129C>T	ENSP00000318016:p.Met954Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4R7|Q3KQX5|Q8TBQ2	Missense_Mutation	SNP	pfam_WASH_strumpellin,superfamily_Ig_E-set	p.M954I	ENST00000318410.7	37	c.2862	CCDS6355.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.363|8.363	0.833658|0.833658	0.16820|0.16820	.|.	.|.	ENSG00000164961|ENSG00000164961	ENST00000523273|ENST00000318410;ENST00000517845	.|D;D	.|0.84442	.|-1.85;-1.85	5.59|5.59	4.7|4.7	0.59300|0.59300	.|.	.|0.035570	.|0.85682	.|N	.|0.000000	T|T	0.70290|0.70290	0.3207|0.3207	N|N	0.05280|0.05280	-0.08|-0.08	0.80722|0.80722	D|D	1|1	.|B;B	.|0.15473	.|0.013;0.0	.|B;B	.|0.14578	.|0.011;0.001	T|T	0.63808|0.63808	-0.6553|-0.6553	5|10	.|0.15066	.|T	.|0.55	-21.0237|-21.0237	15.6953|15.6953	0.77490|0.77490	0.1379:0.8621:0.0:0.0|0.1379:0.8621:0.0:0.0	.|.	.|806;954	.|E7EQI7;Q12768	.|.;STRUM_HUMAN	Y|I	571|954;806	.|ENSP00000318016:M954I;ENSP00000429676:M806I	.|ENSP00000318016:M954I	C|M	-|-	2|3	0|0	KIAA0196|KIAA0196	126121311|126121311	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	4.748000|4.748000	0.62148|0.62148	1.311000|1.311000	0.45024|0.45024	0.561000|0.561000	0.74099|0.74099	TGC|ATG	KIAA0196	-	pfam_WASH_strumpellin	ENSG00000164961		0.408	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0196	HGNC	protein_coding	OTTHUMT00000381369.1	87	0.00	0	C	NM_014846		126052129	126052129	-1	no_errors	ENST00000318410	ensembl	human	known	69_37n	missense	92	14.02	15	SNP	1.000	T
KIAA0226	9711	genome.wustl.edu	37	3	197409354	197409354	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:197409354G>A	ENST00000296343.5	-	14	2112	c.2113C>T	c.(2113-2115)Cat>Tat	p.H705Y	KIAA0226_ENST00000273582.5_Missense_Mutation_p.H660Y|KIAA0226_ENST00000389665.5_Missense_Mutation_p.H730Y	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	705					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)		GGGGCTGGATGAACATTAAAA	0.567																																					Esophageal Squamous(3;167 355 3763 15924)	dbGAP											0													32.0	37.0	35.0					3																	197409354		1960	4150	6110	-	-	-	SO:0001583	missense	0			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.2113C>T	3.37:g.197409354G>A	ENSP00000296343:p.His705Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96CK5	Missense_Mutation	SNP	pfam_Run,smart_Run,pfscan_Run	p.H705Y	ENST00000296343.5	37	c.2113	CCDS43195.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.199746|5.199746	0.94997|0.94997	.|.	.|.	ENSG00000145016|ENSG00000145016	ENST00000273582;ENST00000296343;ENST00000389665|ENST00000413360	.|.	.|.	.|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76407|0.76407	0.3983|0.3983	M|M	0.71581|0.71581	2.175|2.175	0.80722|0.80722	D|D	1|1	D;P;D|.	0.89917|.	1.0;0.508;1.0|.	D;B;D|.	0.91635|.	0.999;0.34;0.996|.	T|T	0.74771|0.74771	-0.3552|-0.3552	9|5	0.24483|.	T|.	0.36|.	.|.	19.5451|19.5451	0.95291|0.95291	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	730;660;705|.	Q92622-3;Q92622-2;Q92622|.	.;.;RUBIC_HUMAN|.	Y|L	660;705;730|666	.|.	ENSP00000273582:H660Y|.	H|S	-|-	1|2	0|0	KIAA0226|KIAA0226	198893751|198893751	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.869000|9.869000	0.99810|0.99810	2.629000|2.629000	0.89072|0.89072	0.655000|0.655000	0.94253|0.94253	CAT|TCA	KIAA0226	-	NULL	ENSG00000145016		0.567	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA0226	HGNC	protein_coding	OTTHUMT00000340184.1	44	0.00	0	G	XM_032901		197409354	197409354	-1	no_errors	ENST00000296343	ensembl	human	known	69_37n	missense	26	43.48	20	SNP	1.000	A
KIAA0226L	80183	genome.wustl.edu	37	13	46919692	46919692	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr13:46919692C>G	ENST00000429979.1	-	13	2279	c.1675G>C	c.(1675-1677)Gag>Cag	p.E559Q	KIAA0226L_ENST00000378797.2_Intron|KIAA0226L_ENST00000378787.3_Intron|KIAA0226L_ENST00000409879.2_Missense_Mutation_p.E402Q|KIAA0226L_ENST00000322896.6_Missense_Mutation_p.E402Q|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.E492Q|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.E559Q|KIAA0226L_ENST00000378781.3_3'UTR|KIAA0226L_ENST00000534925.1_Missense_Mutation_p.E424Q	NM_025113.2	NP_079389.2	Q9H714	K226L_HUMAN	KIAA0226-like	559										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						AGGTGGAGCTCATCAGTCAAG	0.527																																						dbGAP											0													54.0	54.0	54.0					13																	46919692		1989	4156	6145	-	-	-	SO:0001583	missense	0			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.1675G>C	13.37:g.46919692C>G	ENSP00000396935:p.Glu559Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAG9|A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6	Missense_Mutation	SNP	NULL	p.E559Q	ENST00000429979.1	37	c.1675	CCDS31970.2	13	.	.	.	.	.	.	.	.	.	.	C	15.29	2.790230	0.50102	.	.	ENSG00000102445	ENST00000429979;ENST00000378784;ENST00000389908;ENST00000409879;ENST00000322896;ENST00000534925	T;T;T;T	0.46819	0.86;0.86;0.86;0.88	5.35	2.66	0.31614	.	.	.	.	.	T	0.38878	0.1057	L	0.41492	1.28	0.80722	D	1	B;B;B;B;B	0.31655	0.11;0.11;0.334;0.107;0.087	B;B;B;B;B	0.36092	0.215;0.215;0.217;0.206;0.13	T	0.12400	-1.0549	9	0.45353	T	0.12	-0.2481	8.1698	0.31247	0.0:0.726:0.1296:0.1444	.	402;402;559;424;492	B7ZBN5;B7Z6E4;Q9H714;A8KAG9;Q9H714-3	.;.;K226L_HUMAN;.;.	Q	559;492;559;402;402;424	ENSP00000396935:E559Q;ENSP00000368061:E492Q;ENSP00000374558:E559Q;ENSP00000437501:E424Q	ENSP00000315633:E402Q	E	-	1	0	KIAA0226L	45817693	0.997000	0.39634	0.047000	0.18901	0.975000	0.68041	1.699000	0.37804	0.233000	0.21120	-0.176000	0.13171	GAG	KIAA0226L	-	NULL	ENSG00000102445		0.527	KIAA0226L-204	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0226L	HGNC	protein_coding	OTTHUMT00000044809.2	37	0.00	0	C	NM_025113		46919692	46919692	-1	no_errors	ENST00000389908	ensembl	human	known	69_37n	missense	29	40.82	20	SNP	0.803	G
KIAA0232	9778	genome.wustl.edu	37	4	6858918	6858918	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:6858918G>A	ENST00000307659.5	+	5	852	c.397G>A	c.(397-399)Gag>Aag	p.E133K	KIAA0232_ENST00000425103.1_Missense_Mutation_p.E133K	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	133							ATP binding (GO:0005524)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						TTTAGTGGAGGAGCTCTGCTC	0.443																																						dbGAP											0													60.0	59.0	60.0					4																	6858918		1885	4122	6007	-	-	-	SO:0001583	missense	0			D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.397G>A	4.37:g.6858918G>A	ENSP00000303928:p.Glu133Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2D2	Missense_Mutation	SNP	NULL	p.E133K	ENST00000307659.5	37	c.397	CCDS43209.1	4	.	.	.	.	.	.	.	.	.	.	G	36	5.668231	0.96745	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.77778	0.4181	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.79342	-0.1843	9	0.87932	D	0	-4.7566	19.2359	0.93858	0.0:0.0:1.0:0.0	.	133	Q92628	K0232_HUMAN	K	133	.	ENSP00000303928:E133K	E	+	1	0	KIAA0232	6909819	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.667000	0.91153	2.561000	0.86390	0.655000	0.94253	GAG	KIAA0232	-	NULL	ENSG00000170871		0.443	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0232	HGNC	protein_coding	OTTHUMT00000359102.2	61	0.00	0	G	NM_014743		6858918	6858918	+1	no_errors	ENST00000307659	ensembl	human	known	69_37n	missense	44	26.67	16	SNP	1.000	A
KIAA0232	9778	genome.wustl.edu	37	4	6860154	6860154	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:6860154G>C	ENST00000307659.5	+	6	894	c.439G>C	c.(439-441)Gag>Cag	p.E147Q	KIAA0232_ENST00000425103.1_Missense_Mutation_p.E147Q	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	147							ATP binding (GO:0005524)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						CATAACAGAAGAGAAGATTCA	0.323																																						dbGAP											0													36.0	33.0	34.0					4																	6860154		1792	4066	5858	-	-	-	SO:0001583	missense	0			D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.439G>C	4.37:g.6860154G>C	ENSP00000303928:p.Glu147Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2D2	Missense_Mutation	SNP	NULL	p.E147Q	ENST00000307659.5	37	c.439	CCDS43209.1	4	.	.	.	.	.	.	.	.	.	.	G	20.7	4.041416	0.75732	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	5.56	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.53094	0.1775	L	0.55481	1.735	0.50813	D	0.999891	P	0.35793	0.521	B	0.30495	0.116	T	0.58482	-0.7629	9	0.72032	D	0.01	-37.5834	16.411	0.83712	0.0:0.1317:0.8683:0.0	.	147	Q92628	K0232_HUMAN	Q	147	.	ENSP00000303928:E147Q	E	+	1	0	KIAA0232	6911055	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.539000	0.73856	1.326000	0.45319	0.650000	0.86243	GAG	KIAA0232	-	NULL	ENSG00000170871		0.323	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0232	HGNC	protein_coding	OTTHUMT00000359102.2	32	0.00	0	G	NM_014743		6860154	6860154	+1	no_errors	ENST00000307659	ensembl	human	known	69_37n	missense	37	17.78	8	SNP	1.000	C
KIAA0232	9778	genome.wustl.edu	37	4	6863238	6863238	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:6863238G>C	ENST00000307659.5	+	7	1584	c.1129G>C	c.(1129-1131)Gat>Cat	p.D377H	KIAA0232_ENST00000425103.1_Missense_Mutation_p.D377H	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	377							ATP binding (GO:0005524)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						AGGGAGAAAAGATCCTGGGAG	0.448																																						dbGAP											0													68.0	72.0	71.0					4																	6863238		1858	4094	5952	-	-	-	SO:0001583	missense	0			D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.1129G>C	4.37:g.6863238G>C	ENSP00000303928:p.Asp377His	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2D2	Missense_Mutation	SNP	NULL	p.D377H	ENST00000307659.5	37	c.1129	CCDS43209.1	4	.	.	.	.	.	.	.	.	.	.	G	18.03	3.532880	0.64972	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	5.99	5.99	0.97316	.	0.248834	0.39475	N	0.001358	T	0.65606	0.2707	L	0.40543	1.245	0.80722	D	1	D	0.54772	0.968	P	0.54270	0.747	T	0.66011	-0.6029	9	0.72032	D	0.01	-22.8719	20.4756	0.99175	0.0:0.0:1.0:0.0	.	377	Q92628	K0232_HUMAN	H	377	.	ENSP00000303928:D377H	D	+	1	0	KIAA0232	6914139	1.000000	0.71417	0.417000	0.26559	0.122000	0.20287	9.266000	0.95659	2.847000	0.97988	0.655000	0.94253	GAT	KIAA0232	-	NULL	ENSG00000170871		0.448	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0232	HGNC	protein_coding	OTTHUMT00000359102.2	51	0.00	0	G	NM_014743		6863238	6863238	+1	no_errors	ENST00000307659	ensembl	human	known	69_37n	missense	41	21.15	11	SNP	1.000	C
KIAA0319	9856	genome.wustl.edu	37	6	24596614	24596614	+	Silent	SNP	G	G	A	rs200115570		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:24596614G>A	ENST00000378214.3	-	3	812	c.288C>T	c.(286-288)atC>atT	p.I96I	KIAA0319_ENST00000430948.2_Silent_p.I51I|KIAA0319_ENST00000543707.1_Silent_p.I96I|KIAA0319_ENST00000535378.1_Silent_p.I87I|KIAA0319_ENST00000537886.1_Silent_p.I96I	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	96	MANSC. {ECO:0000255|PROSITE- ProRule:PRU00341}.				negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						GATAAGACCTGATGGGGCCCA	0.602																																						dbGAP											0													57.0	65.0	63.0					6																	24596614		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"""neuronal migration"""	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.288C>T	6.37:g.24596614G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Silent	SNP	pfam_PKD/REJ-like,superfamily_PKD_dom,smart_MANSC_N,smart_Fibronectin_type3,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom	p.I96	ENST00000378214.3	37	c.288	CCDS34348.1	6																																																																																			KIAA0319	-	smart_MANSC_N,pfscan_MANSC	ENSG00000137261		0.602	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0319	HGNC	protein_coding	OTTHUMT00000040009.1	57	0.00	0	G	NM_014809		24596614	24596614	-1	no_errors	ENST00000378214	ensembl	human	known	69_37n	silent	37	45.59	31	SNP	0.001	A
GLTSCR1L	23506	genome.wustl.edu	37	6	42832738	42832738	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:42832738C>T	ENST00000314073.5	+	13	2970	c.2794C>T	c.(2794-2796)Cag>Tag	p.Q932*	GLTSCR1L_ENST00000394168.1_Nonsense_Mutation_p.Q932*			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	932																	GAAGGCCAGTCAGTGCTCTCC	0.547																																						dbGAP											0													53.0	54.0	54.0					6																	42832738		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"""KIAA0240"""	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.2794C>T	6.37:g.42832738C>T	ENSP00000313933:p.Gln932*	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3W2|Q5TFZ3|Q92514	Nonsense_Mutation	SNP	NULL	p.Q932*	ENST00000314073.5	37	c.2794	CCDS34451.1	6	.	.	.	.	.	.	.	.	.	.	c	38	7.025344	0.98010	.	.	ENSG00000112624	ENST00000394167;ENST00000314073;ENST00000394168	.	.	.	5.24	3.44	0.39384	.	0.267525	0.32287	N	0.006309	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-6.4999	10.1514	0.42796	0.0734:0.1358:0.7908:0.0	.	.	.	.	X	932	.	ENSP00000313933:Q932X	Q	+	1	0	KIAA0240	42940716	0.998000	0.40836	0.223000	0.23860	0.845000	0.48019	2.879000	0.48522	0.682000	0.31407	-0.134000	0.14843	CAG	KIAA0240	-	NULL	ENSG00000112624		0.547	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0240	HGNC	protein_coding	OTTHUMT00000040562.3	30	0.00	0	C	NM_015349		42832738	42832738	+1	no_errors	ENST00000314073	ensembl	human	known	69_37n	nonsense	28	34.88	15	SNP	0.327	T
KIAA0391	9692	genome.wustl.edu	37	14	35649884	35649884	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:35649884G>C	ENST00000557565.1	+	5	1557	c.1176G>C	c.(1174-1176)aaG>aaC	p.K392N	KIAA0391_ENST00000534898.4_Missense_Mutation_p.K392N|KIAA0391_ENST00000321130.10_Missense_Mutation_p.K376N|KIAA0391_ENST00000605870.1_Missense_Mutation_p.K20N|KIAA0391_ENST00000603544.1_Missense_Mutation_p.K376N|KIAA0391_ENST00000604948.1_Missense_Mutation_p.K297N|KIAA0391_ENST00000250377.7_Missense_Mutation_p.K297N	NM_001282234.1	NP_001269163.1	O15091	MRRP3_HUMAN	KIAA0391	392					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		AGGAACTTAAGAGATTTGAGA	0.318																																						dbGAP											0													108.0	100.0	103.0					14																	35649884		2202	4300	6502	-	-	-	SO:0001583	missense	0			AB002389	CCDS32063.1, CCDS58312.1, CCDS58313.1, CCDS58314.1	14q13.2	2013-06-18			ENSG00000100890	ENSG00000100890			19958	protein-coding gene	gene with protein product	"""mitochondrial RNase P subunit 3"", ""proteinaceous RNase P"""	609947				9205841, 18984158	Standard	NM_001256678		Approved	MRPP3, PRORP	uc001wsy.2	O15091		ENST00000557565.1:c.1176G>C	14.37:g.35649884G>C	ENSP00000454657:p.Lys392Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DXD9|B4E0S8|B4E211|C4AM93|D3DS99|D3DSA1|Q86SZ4|Q86YB5|Q8N5L5	Missense_Mutation	SNP	NULL	p.K392N	ENST00000557565.1	37	c.1176	CCDS32063.1	14	.	.	.	.	.	.	.	.	.	.	G	7.209	0.594944	0.13875	.	.	ENSG00000100890	ENST00000554896;ENST00000250377;ENST00000321130;ENST00000534898;ENST00000556121;ENST00000556912;ENST00000557404	T;T;T;T	0.47869	0.84;0.86;0.83;0.9	5.58	1.58	0.23477	.	0.449712	0.23789	N	0.044549	T	0.23289	0.0563	N	0.12746	0.255	0.26015	N	0.981944	B;B	0.11235	0.004;0.004	B;B	0.11329	0.006;0.006	T	0.16335	-1.0406	10	0.17369	T	0.5	0.352	6.258	0.20884	0.16:0.2834:0.5566:0.0	.	376;392	O15091-2;O15091	.;MRRP3_HUMAN	N	297;297;376;392;376;20;20	ENSP00000250377:K297N;ENSP00000324697:K376N;ENSP00000440915:K392N;ENSP00000450898:K20N	ENSP00000250377:K297N	K	+	3	2	KIAA0391	34719635	0.856000	0.29760	0.859000	0.33776	0.702000	0.40608	0.463000	0.21972	0.320000	0.23234	-0.150000	0.13652	AAG	RP11-173D9.3	-	NULL	ENSG00000100890		0.318	KIAA0391-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	KIAA0391	Clone_based_vega_gene	protein_coding	OTTHUMT00000411280.1	178	0.00	0	G	NM_014672		35649884	35649884	+1	no_errors	ENST00000534898	ensembl	human	known	69_37n	missense	108	29.41	45	SNP	0.948	C
KIAA0408	9729	genome.wustl.edu	37	6	127768223	127768223	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:127768223G>A	ENST00000483725.3	-	5	1577	c.1241C>T	c.(1240-1242)tCa>tTa	p.S414L	SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	414										endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		CTCTGCTACTGAGGAGCTACA	0.428																																						dbGAP											0													68.0	70.0	69.0					6																	127768223		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007868	CCDS34531.1	6q22.33	2012-11-29			ENSG00000189367	ENSG00000189367			21636	protein-coding gene	gene with protein product							Standard	NM_014702		Approved		uc011ebs.2	Q6ZU52	OTTHUMG00000166439	ENST00000483725.3:c.1241C>T	6.37:g.127768223G>A	ENSP00000435150:p.Ser414Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KRE5|E1P573|O43158|Q5TF20|Q7L2M2	Missense_Mutation	SNP	NULL	p.S414L	ENST00000483725.3	37	c.1241	CCDS34531.1	6	.	.	.	.	.	.	.	.	.	.	G	0.028	-1.354223	0.01256	.	.	ENSG00000189367	ENST00000465254;ENST00000483725	T	0.34275	1.37	5.38	1.09	0.20402	.	0.560860	0.13616	N	0.374753	T	0.10465	0.0256	L	0.31926	0.97	0.09310	N	1	B	0.11235	0.004	B	0.11329	0.006	T	0.32561	-0.9902	10	0.41790	T	0.15	1.17	8.7731	0.34745	0.3257:0.0:0.6743:0.0	.	414	Q6ZU52	K0408_HUMAN	L	3;414	ENSP00000435150:S414L	ENSP00000436178:S3L	S	-	2	0	KIAA0408	127809916	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.418000	0.21230	-0.106000	0.12110	0.655000	0.94253	TCA	KIAA0408	-	NULL	ENSG00000189367		0.428	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	KIAA0408	HGNC	protein_coding	OTTHUMT00000042145.3	48	0.00	0	G	NM_014702		127768223	127768223	-1	no_errors	ENST00000483725	ensembl	human	novel	69_37n	missense	35	14.63	6	SNP	0.000	A
KIAA0430	9665	genome.wustl.edu	37	16	15705471	15705471	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:15705471C>G	ENST00000396368.3	-	18	3801	c.3595G>C	c.(3595-3597)Gaa>Caa	p.E1199Q	KIAA0430_ENST00000551742.1_Missense_Mutation_p.E1199Q|KIAA0430_ENST00000540441.2_Missense_Mutation_p.E1034Q|KIAA0430_ENST00000548025.1_Missense_Mutation_p.E1196Q|KIAA0430_ENST00000602337.1_Missense_Mutation_p.E1196Q|KIAA0430_ENST00000344181.3_Missense_Mutation_p.E801Q|CTB-193M12.1_ENST00000549756.1_RNA	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	1199	HTH OST-type 4. {ECO:0000255|PROSITE- ProRule:PRU00975}.				double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TGTGAGAATTCTCTCACAATG	0.408																																						dbGAP											0													74.0	69.0	70.0					16																	15705471		1831	4092	5923	-	-	-	SO:0001583	missense	0			AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.3595G>C	16.37:g.15705471C>G	ENSP00000379654:p.Glu1199Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom	p.E1199Q	ENST00000396368.3	37	c.3595	CCDS10562.2	16	.	.	.	.	.	.	.	.	.	.	C	23.0	4.360126	0.82353	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	.	.	.	5.91	5.91	0.95273	.	0.100947	0.64402	D	0.000002	T	0.52273	0.1724	N	0.11927	0.2	0.58432	D	0.999992	P;P;P;P	0.44044	0.825;0.73;0.73;0.732	P;P;P;B	0.48627	0.584;0.514;0.514;0.38	T	0.55648	-0.8108	9	0.49607	T	0.09	.	19.3014	0.94145	0.0:1.0:0.0:0.0	.	1198;1196;1195;1198	Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;LKAP_HUMAN	Q	1199;1034;1139;801;1196;1199;979	.	ENSP00000315718:E1139Q	E	-	1	0	KIAA0430	15612972	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.073000	0.76784	2.817000	0.96982	0.643000	0.83706	GAA	KIAA0430	-	NULL	ENSG00000166783		0.408	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA0430	HGNC	protein_coding	OTTHUMT00000252131.2	87	0.00	0	C	NM_014647		15705471	15705471	-1	no_errors	ENST00000396368	ensembl	human	known	69_37n	missense	73	17.05	15	SNP	1.000	G
KIAA0556	23247	genome.wustl.edu	37	16	27761260	27761260	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:27761260C>G	ENST00000261588.4	+	16	2998	c.2979C>G	c.(2977-2979)ctC>ctG	p.L993L		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	993						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						ATGTCGGCCTCAACGGAATAG	0.478																																						dbGAP											0													35.0	35.0	35.0					16																	27761260		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			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.2979C>G	16.37:g.27761260C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2C2	Silent	SNP	superfamily_Thaumatin	p.L993	ENST00000261588.4	37	c.2979	CCDS32415.1	16																																																																																			KIAA0556	-	NULL	ENSG00000047578		0.478	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0556	HGNC	protein_coding	OTTHUMT00000433724.1	18	0.00	0	C	NM_015202		27761260	27761260	+1	no_errors	ENST00000261588	ensembl	human	known	69_37n	silent	19	20.83	5	SNP	0.446	G
KIAA0556	23247	genome.wustl.edu	37	16	27761457	27761457	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:27761457C>A	ENST00000261588.4	+	16	3195	c.3176C>A	c.(3175-3177)tCc>tAc	p.S1059Y		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1059						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						AGATCCCACTCCATCACCATT	0.557																																						dbGAP											0													94.0	83.0	87.0					16																	27761457		2197	4300	6497	-	-	-	SO:0001583	missense	0			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.3176C>A	16.37:g.27761457C>A	ENSP00000261588:p.Ser1059Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2C2	Missense_Mutation	SNP	superfamily_Thaumatin	p.S1059Y	ENST00000261588.4	37	c.3176	CCDS32415.1	16	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.160212	0.00321	.	.	ENSG00000047578	ENST00000261588	T	0.13307	2.6	5.32	2.1	0.27182	.	0.627975	0.17325	N	0.178353	T	0.03095	0.0091	N	0.02357	-0.585	0.09310	N	0.999993	B	0.09022	0.002	B	0.08055	0.003	T	0.43637	-0.9379	10	0.02654	T	1	-11.6077	0.9581	0.01390	0.3581:0.3058:0.1748:0.1613	.	1059	O60303	K0556_HUMAN	Y	1059	ENSP00000261588:S1059Y	ENSP00000261588:S1059Y	S	+	2	0	KIAA0556	27668958	0.761000	0.28439	0.979000	0.43373	0.011000	0.07611	1.155000	0.31700	1.326000	0.45319	0.655000	0.94253	TCC	KIAA0556	-	NULL	ENSG00000047578		0.557	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0556	HGNC	protein_coding	OTTHUMT00000433724.1	69	0.00	0	C	NM_015202		27761457	27761457	+1	no_errors	ENST00000261588	ensembl	human	known	69_37n	missense	47	33.80	24	SNP	0.446	A
CLUH	23277	genome.wustl.edu	37	17	2601777	2601777	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:2601777G>C	ENST00000570628.2	-	10	1365	c.1260C>G	c.(1258-1260)atC>atG	p.I420M	CLUH_ENST00000435359.1_Missense_Mutation_p.I420M|CLUH_ENST00000538975.1_Missense_Mutation_p.I420M			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	420					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)											TGTTGTTCCAGATGAACATCT	0.622																																						dbGAP											0													39.0	43.0	42.0					17																	2601777		2146	4248	6394	-	-	-	SO:0001583	missense	0			AB014564	CCDS45572.1	17p13.3	2012-12-18	2012-11-30	2012-11-30	ENSG00000132361	ENSG00000132361			29094	protein-coding gene	gene with protein product			"""KIAA0664"""	KIAA0664			Standard	XM_005256567		Approved	CLU1	uc002fuy.1	O75153	OTTHUMG00000177575	ENST00000570628.2:c.1260C>G	17.37:g.2601777G>C	ENSP00000458986:p.Ile420Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Missense_Mutation	SNP	superfamily_GSKIP/TIF31_domain	p.I420M	ENST00000570628.2	37	c.1260	CCDS45572.1	17	.	.	.	.	.	.	.	.	.	.	G	19.60	3.858385	0.71834	.	.	ENSG00000132361	ENST00000435359;ENST00000322335;ENST00000538975	D;D	0.82167	-1.58;-1.58	5.41	-0.255	0.12988	.	0.000000	0.85682	D	0.000000	D	0.87700	0.6243	M	0.82630	2.6	0.58432	D	0.999999	D;D	0.65815	0.995;0.991	D;D	0.68039	0.955;0.955	D	0.84060	0.0374	10	0.87932	D	0	.	4.6553	0.12615	0.2081:0.0:0.4436:0.3484	.	420;420	O75153;C9J6D7	K0664_HUMAN;.	M	420	ENSP00000388872:I420M;ENSP00000439628:I420M	ENSP00000320468:I420M	I	-	3	3	KIAA0664	2548527	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	2.645000	0.46621	0.003000	0.14656	-0.140000	0.14226	ATC	KIAA0664	-	NULL	ENSG00000132361		0.622	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0664	HGNC	protein_coding	OTTHUMT00000437807.2	31	0.00	0	G	NM_015229		2601777	2601777	-1	no_errors	ENST00000435359	ensembl	human	known	69_37n	missense	17	19.05	4	SNP	1.000	C
KIAA0922	23240	genome.wustl.edu	37	4	154542961	154542961	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:154542961C>G	ENST00000409663.3	+	28	3868	c.3816C>G	c.(3814-3816)gcC>gcG	p.A1272A	KIAA0922_ENST00000409959.3_Silent_p.A1273A|KIAA0922_ENST00000440693.1_Silent_p.A1189A	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1272						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				AAGCAGATGCCGAAATTGCAA	0.448																																						dbGAP											0													145.0	136.0	139.0					4																	154542961		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.3816C>G	4.37:g.154542961C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Silent	SNP	pfam_DUF3651_TMEM131	p.A1273	ENST00000409663.3	37	c.3819	CCDS3783.2	4																																																																																			KIAA0922	-	NULL	ENSG00000121210		0.448	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA0922	HGNC	protein_coding	OTTHUMT00000330370.1	122	0.00	0	C	NM_015196		154542961	154542961	+1	no_errors	ENST00000409959	ensembl	human	known	69_37n	silent	95	19.33	23	SNP	0.000	G
ICE1	23379	genome.wustl.edu	37	5	5461007	5461007	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:5461007G>C	ENST00000296564.7	+	13	1782	c.1560G>C	c.(1558-1560)gaG>gaC	p.E520D		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		520					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						CTGCACAAGAGAAGGAAGCTG	0.453																																						dbGAP											0													115.0	123.0	120.0					5																	5461007		1963	4137	6100	-	-	-	SO:0001583	missense	0																														ENST00000296564.7:c.1560G>C	5.37:g.5461007G>C	ENSP00000296564:p.Glu520Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	superfamily_Vitellinogen_superhlx	p.E520D	ENST00000296564.7	37	c.1560	CCDS47187.1	5	.	.	.	.	.	.	.	.	.	.	G	6.356	0.433754	0.12045	.	.	ENSG00000164151	ENST00000296564	T	0.45276	0.9	4.09	-3.55	0.04639	.	2.190120	0.01744	N	0.029542	T	0.24392	0.0591	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.15150	-1.0447	10	0.15066	T	0.55	-0.856	8.1589	0.31187	0.1759:0.5451:0.279:0.0	.	520	Q9Y2F5	K0947_HUMAN	D	520	ENSP00000296564:E520D	ENSP00000296564:E520D	E	+	3	2	KIAA0947	5514007	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	0.310000	0.19356	-1.224000	0.02581	-0.680000	0.03767	GAG	KIAA0947	-	NULL	ENSG00000164151		0.453	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0947	HGNC	protein_coding	OTTHUMT00000365575.1	74	0.00	0	G			5461007	5461007	+1	no_errors	ENST00000296564	ensembl	human	known	69_37n	missense	55	29.49	23	SNP	0.000	C
ICE1	23379	genome.wustl.edu	37	5	5463630	5463630	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:5463630C>T	ENST00000296564.7	+	13	4405	c.4183C>T	c.(4183-4185)Cag>Tag	p.Q1395*		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1395					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						AACAACATTTCAGTGTCAGAT	0.448																																						dbGAP											0													33.0	34.0	34.0					5																	5463630		1980	4153	6133	-	-	-	SO:0001587	stop_gained	0																														ENST00000296564.7:c.4183C>T	5.37:g.5463630C>T	ENSP00000296564:p.Gln1395*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Nonsense_Mutation	SNP	superfamily_Vitellinogen_superhlx	p.Q1395*	ENST00000296564.7	37	c.4183	CCDS47187.1	5	.	.	.	.	.	.	.	.	.	.	C	43	9.880025	0.99286	.	.	ENSG00000164151	ENST00000296564	.	.	.	4.78	2.89	0.33648	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.3657	11.4712	0.50270	0.0:0.6528:0.3472:0.0	.	.	.	.	X	1395	.	ENSP00000296564:Q1395X	Q	+	1	0	KIAA0947	5516630	0.002000	0.14202	0.005000	0.12908	0.633000	0.38033	1.412000	0.34714	1.010000	0.39314	0.305000	0.20034	CAG	KIAA0947	-	NULL	ENSG00000164151		0.448	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0947	HGNC	protein_coding	OTTHUMT00000365575.1	23	0.00	0	C			5463630	5463630	+1	no_errors	ENST00000296564	ensembl	human	known	69_37n	nonsense	23	17.86	5	SNP	0.001	T
ICE1	23379	genome.wustl.edu	37	5	5466495	5466495	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:5466495C>T	ENST00000296564.7	+	14	6163	c.5941C>T	c.(5941-5943)Cag>Tag	p.Q1981*		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1981					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						ACTAAAAATTCAGAAGATATC	0.393																																						dbGAP											0													97.0	88.0	90.0					5																	5466495		1835	4084	5919	-	-	-	SO:0001587	stop_gained	0																														ENST00000296564.7:c.5941C>T	5.37:g.5466495C>T	ENSP00000296564:p.Gln1981*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Nonsense_Mutation	SNP	superfamily_Vitellinogen_superhlx	p.Q1981*	ENST00000296564.7	37	c.5941	CCDS47187.1	5	.	.	.	.	.	.	.	.	.	.	C	48	13.984153	0.99773	.	.	ENSG00000164151	ENST00000296564	.	.	.	5.81	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-10.4045	13.2664	0.60135	0.0:0.6958:0.3042:0.0	.	.	.	.	X	1981	.	ENSP00000296564:Q1981X	Q	+	1	0	KIAA0947	5519495	1.000000	0.71417	0.975000	0.42487	0.864000	0.49448	2.209000	0.42806	1.449000	0.47699	0.557000	0.71058	CAG	KIAA0947	-	NULL	ENSG00000164151		0.393	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0947	HGNC	protein_coding	OTTHUMT00000365575.1	108	0.00	0	C			5466495	5466495	+1	no_errors	ENST00000296564	ensembl	human	known	69_37n	nonsense	83	21.70	23	SNP	0.982	T
ICE1	23379	genome.wustl.edu	37	5	5473835	5473835	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:5473835G>A	ENST00000296564.7	+	16	6609	c.6387G>A	c.(6385-6387)tgG>tgA	p.W2129*		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		2129					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						ATCAGAAATGGATCTGGACGC	0.333																																						dbGAP											0													51.0	47.0	48.0					5																	5473835		1876	4117	5993	-	-	-	SO:0001587	stop_gained	0																														ENST00000296564.7:c.6387G>A	5.37:g.5473835G>A	ENSP00000296564:p.Trp2129*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Nonsense_Mutation	SNP	superfamily_Vitellinogen_superhlx	p.W2129*	ENST00000296564.7	37	c.6387	CCDS47187.1	5	.	.	.	.	.	.	.	.	.	.	G	49	15.023242	0.99819	.	.	ENSG00000164151	ENST00000296564	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.6321	16.7623	0.85515	0.0:0.0:1.0:0.0	.	.	.	.	X	2129	.	ENSP00000296564:W2129X	W	+	3	0	KIAA0947	5526835	1.000000	0.71417	0.982000	0.44146	0.996000	0.88848	8.552000	0.90682	2.562000	0.86427	0.655000	0.94253	TGG	KIAA0947	-	NULL	ENSG00000164151		0.333	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0947	HGNC	protein_coding	OTTHUMT00000365575.1	58	0.00	0	G			5473835	5473835	+1	no_errors	ENST00000296564	ensembl	human	known	69_37n	nonsense	47	22.95	14	SNP	1.000	A
KIAA1033	23325	genome.wustl.edu	37	12	105515925	105515925	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:105515925C>T	ENST00000332180.5	+	10	782	c.695C>T	c.(694-696)tCa>tTa	p.S232L		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						CACAATCCTTCAAAATTTGGA	0.303																																						dbGAP											0													65.0	61.0	62.0					12																	105515925		1785	4063	5848	-	-	-	SO:0001583	missense	0			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.695C>T	12.37:g.105515925C>T	ENSP00000328062:p.Ser232Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.S232L	ENST00000332180.5	37	c.695	CCDS41826.1	12	.	.	.	.	.	.	.	.	.	.	C	15.61	2.885688	0.51908	.	.	ENSG00000136051	ENST00000332180	T	0.33438	1.41	5.72	5.72	0.89469	.	0.342010	0.29995	N	0.010673	T	0.31857	0.0810	L	0.46157	1.445	0.41309	D	0.987095	B;B	0.22983	0.078;0.078	B;B	0.28232	0.087;0.087	T	0.04885	-1.0920	10	0.42905	T	0.14	.	15.4263	0.75055	0.0:0.8616:0.1384:0.0	.	232;232	B7ZKT9;Q2M389	.;WASH7_HUMAN	L	232	ENSP00000328062:S232L	ENSP00000328062:S232L	S	+	2	0	KIAA1033	104040055	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.800000	0.55537	2.716000	0.92895	0.650000	0.86243	TCA	KIAA1033	-	NULL	ENSG00000136051		0.303	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1033	HGNC	protein_coding	OTTHUMT00000406138.4	67	0.00	0	C	NM_015275		105515925	105515925	+1	no_errors	ENST00000332180	ensembl	human	known	69_37n	missense	50	21.88	14	SNP	0.998	T
KIAA1107	23285	genome.wustl.edu	37	1	92633432	92633432	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:92633432C>G	ENST00000370378.4	+	2	117	c.19C>G	c.(19-21)Ctg>Gtg	p.L7V	KIAA1107_ENST00000409154.4_Missense_Mutation_p.L62V	NM_015237.2	NP_056052.2	Q9UPP5	K1107_HUMAN	KIAA1107	62										breast(4)|central_nervous_system(1)|endometrium(3)|kidney(2)|prostate(1)|skin(3)	14						CACAGCCGATCTGTTGGACAC	0.368																																						dbGAP											0													160.0	122.0	133.0					1																	92633432		692	1591	2283	-	-	-	SO:0001583	missense	0			AB029030	CCDS44172.1	1p22.1	2008-02-05			ENSG00000069712	ENSG00000069712			29192	protein-coding gene	gene with protein product						10470851	Standard	NM_015237		Approved		uc010otd.2	Q9UPP5	OTTHUMG00000010292	ENST00000370378.4:c.19C>G	1.37:g.92633432C>G	ENSP00000359404:p.Leu7Val	Somatic		WXS	Illumina GAIIx	Phase_IV	O14767|Q8N3X7	Missense_Mutation	SNP	NULL	p.L62V	ENST00000370378.4	37	c.184	CCDS44172.1	1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.791618	0.50102	.	.	ENSG00000069712	ENST00000409154;ENST00000370378	T;T	0.19532	2.65;2.14	5.71	2.87	0.33458	.	.	.	.	.	T	0.24967	0.0606	L	0.53249	1.67	0.23913	N	0.996482	D	0.89917	1.0	D	0.85130	0.997	T	0.07424	-1.0773	9	0.87932	D	0	.	10.7449	0.46175	0.0:0.7954:0.0:0.2046	.	7	E9PEZ5	.	V	62;7	ENSP00000386957:L62V;ENSP00000359404:L7V	ENSP00000359404:L7V	L	+	1	2	KIAA1107	92406020	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	2.112000	0.41892	0.360000	0.24265	0.650000	0.86243	CTG	KIAA1107	-	NULL	ENSG00000069712		0.368	KIAA1107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1107	HGNC	protein_coding	OTTHUMT00000028375.3	121	0.00	0	C	XM_034086		92633432	92633432	+1	no_errors	ENST00000409154	ensembl	human	known	69_37n	missense	73	23.16	22	SNP	1.000	G
KIAA1107	23285	genome.wustl.edu	37	1	92636976	92636976	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:92636976G>A	ENST00000370378.4	+	4	378	c.280G>A	c.(280-282)Gat>Aat	p.D94N	KIAA1107_ENST00000409154.4_Missense_Mutation_p.D149N	NM_015237.2	NP_056052.2	Q9UPP5	K1107_HUMAN	KIAA1107	149										breast(4)|central_nervous_system(1)|endometrium(3)|kidney(2)|prostate(1)|skin(3)	14						CAAAGGTGATGATCGAAGACT	0.294																																						dbGAP											0													50.0	44.0	46.0					1																	92636976		692	1587	2279	-	-	-	SO:0001583	missense	0			AB029030	CCDS44172.1	1p22.1	2008-02-05			ENSG00000069712	ENSG00000069712			29192	protein-coding gene	gene with protein product						10470851	Standard	NM_015237		Approved		uc010otd.2	Q9UPP5	OTTHUMG00000010292	ENST00000370378.4:c.280G>A	1.37:g.92636976G>A	ENSP00000359404:p.Asp94Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O14767|Q8N3X7	Missense_Mutation	SNP	NULL	p.D149N	ENST00000370378.4	37	c.445	CCDS44172.1	1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.615142	0.87359	.	.	ENSG00000069712	ENST00000409154;ENST00000370378	T;T	0.05649	3.41;3.43	5.85	5.85	0.93711	.	0.054841	0.64402	D	0.000001	T	0.12305	0.0299	M	0.62723	1.935	0.30350	N	0.784891	P	0.51537	0.946	P	0.55667	0.781	T	0.00251	-1.1877	10	0.62326	D	0.03	.	20.1588	0.98128	0.0:0.0:1.0:0.0	.	94	E9PEZ5	.	N	149;94	ENSP00000386957:D149N;ENSP00000359404:D94N	ENSP00000359404:D94N	D	+	1	0	KIAA1107	92409564	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.994000	0.56994	2.770000	0.95276	0.563000	0.77884	GAT	KIAA1107	-	NULL	ENSG00000069712		0.294	KIAA1107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1107	HGNC	protein_coding	OTTHUMT00000028375.3	64	0.00	0	G	XM_034086		92636976	92636976	+1	no_errors	ENST00000409154	ensembl	human	known	69_37n	missense	45	28.57	18	SNP	1.000	A
KIAA1107	23285	genome.wustl.edu	37	1	92647709	92647709	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:92647709G>A	ENST00000370378.4	+	8	3253	c.3155G>A	c.(3154-3156)cGa>cAa	p.R1052Q	KIAA1107_ENST00000409154.4_Missense_Mutation_p.R1107Q	NM_015237.2	NP_056052.2	Q9UPP5	K1107_HUMAN	KIAA1107	1107										breast(4)|central_nervous_system(1)|endometrium(3)|kidney(2)|prostate(1)|skin(3)	14						AGATTCTCACGAGAAAGTGAA	0.353																																						dbGAP											0													58.0	49.0	52.0					1																	92647709		692	1590	2282	-	-	-	SO:0001583	missense	0			AB029030	CCDS44172.1	1p22.1	2008-02-05			ENSG00000069712	ENSG00000069712			29192	protein-coding gene	gene with protein product						10470851	Standard	NM_015237		Approved		uc010otd.2	Q9UPP5	OTTHUMG00000010292	ENST00000370378.4:c.3155G>A	1.37:g.92647709G>A	ENSP00000359404:p.Arg1052Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O14767|Q8N3X7	Missense_Mutation	SNP	NULL	p.R1107Q	ENST00000370378.4	37	c.3320	CCDS44172.1	1	.	.	.	.	.	.	.	.	.	.	G	2.043	-0.419646	0.04734	.	.	ENSG00000069712	ENST00000409154;ENST00000370378	T;T	0.04551	3.6;3.6	5.93	-1.56	0.08532	.	0.780156	0.11468	N	0.561022	T	0.00328	0.0010	N	0.00436	-1.5	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44772	-0.9306	10	0.24483	T	0.36	.	1.1145	0.01711	0.5015:0.1051:0.1652:0.2283	.	1052	E9PEZ5	.	Q	1107;1052	ENSP00000386957:R1107Q;ENSP00000359404:R1052Q	ENSP00000359404:R1052Q	R	+	2	0	KIAA1107	92420297	0.008000	0.16893	0.006000	0.13384	0.257000	0.26127	0.740000	0.26188	0.134000	0.18681	-0.440000	0.05779	CGA	KIAA1107	-	NULL	ENSG00000069712		0.353	KIAA1107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1107	HGNC	protein_coding	OTTHUMT00000028375.3	65	0.00	0	G	XM_034086		92647709	92647709	+1	no_errors	ENST00000409154	ensembl	human	known	69_37n	missense	40	25.93	14	SNP	0.007	A
KIAA1109	84162	genome.wustl.edu	37	4	123097031	123097031	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:123097031G>A	ENST00000264501.4	+	6	693	c.320G>A	c.(319-321)cGg>cAg	p.R107Q	KIAA1109_ENST00000455637.1_Missense_Mutation_p.R107Q|KIAA1109_ENST00000388738.3_Missense_Mutation_p.R107Q			Q2LD37	K1109_HUMAN	KIAA1109	107					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ATCATTTTTCGGTGGTGGAAA	0.279																																						dbGAP											0													111.0	106.0	107.0					4																	123097031		1801	4074	5875	-	-	-	SO:0001583	missense	0			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.320G>A	4.37:g.123097031G>A	ENSP00000264501:p.Arg107Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	pfam_Fragile_site-assoc_C	p.R107Q	ENST00000264501.4	37	c.320	CCDS43267.1	4	.	.	.	.	.	.	.	.	.	.	G	21.8	4.200404	0.79015	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637	T;T;T	0.41758	1.59;1.59;0.99	5.09	5.09	0.68999	.	0.000000	0.33290	U	0.005073	T	0.61098	0.2320	L	0.52905	1.665	0.58432	D	0.999999	D	0.69078	0.997	D	0.70227	0.968	T	0.63778	-0.6560	10	0.66056	D	0.02	.	18.4794	0.90806	0.0:0.0:1.0:0.0	.	107	Q2LD37	K1109_HUMAN	Q	107	ENSP00000264501:R107Q;ENSP00000373390:R107Q;ENSP00000389925:R107Q	ENSP00000264501:R107Q	R	+	2	0	KIAA1109	123316481	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	9.198000	0.94994	2.374000	0.81015	0.573000	0.79308	CGG	KIAA1109	-	NULL	ENSG00000138688		0.279	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1109	HGNC	protein_coding	OTTHUMT00000316415.1	176	0.00	0	G	NM_020797		123097031	123097031	+1	no_errors	ENST00000264501	ensembl	human	known	69_37n	missense	130	13.91	21	SNP	1.000	A
KIAA1109	84162	genome.wustl.edu	37	4	123175386	123175386	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:123175386C>G	ENST00000264501.4	+	38	6332	c.5959C>G	c.(5959-5961)Cta>Gta	p.L1987V	KIAA1109_ENST00000455637.1_Missense_Mutation_p.L1987V|KIAA1109_ENST00000388738.3_Missense_Mutation_p.L1987V			Q2LD37	K1109_HUMAN	KIAA1109	1987					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GAAAAAAGATCTACCTCTGAT	0.383																																						dbGAP											0													128.0	114.0	118.0					4																	123175386		1853	4090	5943	-	-	-	SO:0001583	missense	0			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.5959C>G	4.37:g.123175386C>G	ENSP00000264501:p.Leu1987Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	pfam_Fragile_site-assoc_C	p.L1987V	ENST00000264501.4	37	c.5959	CCDS43267.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.970|6.970	0.548919|0.548919	0.13312|0.13312	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000446180|ENST00000264501;ENST00000388738;ENST00000455637	.|T;T;T	.|0.22945	.|2.52;2.52;1.93	5.6|5.6	3.84|3.84	0.44239|0.44239	.|.	.|0.353881	.|0.17905	.|N	.|0.158076	T|T	0.14700|0.14700	0.0355|0.0355	L|L	0.34521|0.34521	1.04|1.04	0.35426|0.35426	D|D	0.793618|0.793618	.|B;B	.|0.06786	.|0.001;0.001	.|B;B	.|0.09377	.|0.004;0.002	T|T	0.17471|0.17471	-1.0368|-1.0368	5|10	.|0.06236	.|T	.|0.91	.|.	6.3005|6.3005	0.21109|0.21109	0.1669:0.6485:0.1114:0.0733|0.1669:0.6485:0.1114:0.0733	.|.	.|1986;1987	.|Q2LD37-2;Q2LD37	.|.;K1109_HUMAN	M|V	559|1987	.|ENSP00000264501:L1987V;ENSP00000373390:L1987V;ENSP00000389925:L1987V	.|ENSP00000264501:L1987V	I|L	+|+	3|1	3|2	KIAA1109|KIAA1109	123394836|123394836	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.995000|0.995000	0.86356|0.86356	1.316000|1.316000	0.33620|0.33620	0.680000|0.680000	0.31366|0.31366	0.591000|0.591000	0.81541|0.81541	ATC|CTA	KIAA1109	-	NULL	ENSG00000138688		0.383	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1109	HGNC	protein_coding	OTTHUMT00000316415.1	91	0.00	0	C	NM_020797		123175386	123175386	+1	no_errors	ENST00000264501	ensembl	human	known	69_37n	missense	73	22.34	21	SNP	1.000	G
KIAA1109	84162	genome.wustl.edu	37	4	123185514	123185514	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:123185514C>A	ENST00000264501.4	+	45	7622	c.7249C>A	c.(7249-7251)Cag>Aag	p.Q2417K	KIAA1109_ENST00000455637.1_Missense_Mutation_p.Q2417K|KIAA1109_ENST00000388738.3_Missense_Mutation_p.Q2417K			Q2LD37	K1109_HUMAN	KIAA1109	2417					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TAGCACCAGTCAGGATGATGT	0.453																																						dbGAP											0													80.0	86.0	84.0					4																	123185514		1985	4169	6154	-	-	-	SO:0001583	missense	0			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.7249C>A	4.37:g.123185514C>A	ENSP00000264501:p.Gln2417Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Nonsense_Mutation	SNP	NULL	p.S374*	ENST00000264501.4	37	c.1121	CCDS43267.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.086379|5.086379	0.94100|0.94100	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637|ENST00000419325	T;T;T|.	0.22743|.	2.54;2.54;1.94|.	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	0.000000|.	0.52532|.	U|.	0.000072|.	T|.	0.57125|.	0.2032|.	N|N	0.19112|0.19112	0.55|0.55	0.53005|0.53005	D|D	0.999967|0.999967	P;P;D|.	0.54207|.	0.949;0.949;0.965|.	P;P;P|.	0.53649|.	0.546;0.731;0.542|.	T|.	0.52343|.	-0.8588|.	10|.	0.46703|0.33940	T|T	0.11|0.23	.|.	20.3343|20.3343	0.98733|0.98733	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2417;2416;2417|.	Q2LD37-6;Q2LD37-2;Q2LD37|.	.;.;K1109_HUMAN|.	K|X	2417|374	ENSP00000264501:Q2417K;ENSP00000373390:Q2417K;ENSP00000389925:Q2417K|.	ENSP00000264501:Q2417K|ENSP00000393219:S374X	Q|S	+|+	1|2	0|0	KIAA1109|KIAA1109	123404964|123404964	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.640000|7.640000	0.83355|0.83355	2.822000|2.822000	0.97130|0.97130	0.650000|0.650000	0.86243|0.86243	CAG|TCA	KIAA1109	-	NULL	ENSG00000138688		0.453	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1109	HGNC	protein_coding	OTTHUMT00000316415.1	105	0.00	0	C	NM_020797		123185514	123185514	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000419325	ensembl	human	putative	69_37n	nonsense	86	21.82	24	SNP	1.000	A
KIAA1210	57481	genome.wustl.edu	37	X	118222089	118222089	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:118222089G>C	ENST00000402510.2	-	11	3103	c.3104C>G	c.(3103-3105)tCa>tGa	p.S1035*		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1035										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TGTGCTTTCTGAGATTTGCCG	0.517																																						dbGAP											0													137.0	137.0	137.0					X																	118222089		2037	4174	6211	-	-	-	SO:0001587	stop_gained	0			AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.3104C>G	X.37:g.118222089G>C	ENSP00000384670:p.Ser1035*	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZCI8|Q5JPN4	Nonsense_Mutation	SNP	NULL	p.S1035*	ENST00000402510.2	37	c.3104	CCDS48156.1	X	.	.	.	.	.	.	.	.	.	.	G	37	6.632715	0.97722	.	.	ENSG00000250423	ENST00000402510	.	.	.	4.47	-1.98	0.07480	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	4.644	0.12563	0.5364:0.0:0.3014:0.1622	.	.	.	.	X	1035	.	ENSP00000384670:S1035X	S	-	2	0	RP13-347D8.6	118106117	0.001000	0.12720	0.000000	0.03702	0.403000	0.30841	0.637000	0.24659	-0.617000	0.05664	0.600000	0.82982	TCA	KIAA1210	-	NULL	ENSG00000250423		0.517	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1210	HGNC	protein_coding	OTTHUMT00000371251.2	35	0.00	0	G	NM_020721		118222089	118222089	-1	no_errors	ENST00000402510	ensembl	human	known	69_37n	nonsense	28	37.78	17	SNP	0.000	C
KIAA1210	57481	genome.wustl.edu	37	X	118243104	118243104	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:118243104C>T	ENST00000402510.2	-	5	711	c.712G>A	c.(712-714)Gag>Aag	p.E238K		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	238								p.E98K(1)|p.E238K(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						CTTTCAGGCTCAGGACCCAAC	0.488																																						dbGAP											2	Substitution - Missense(2)	lung(2)											85.0	74.0	78.0					X																	118243104		1943	4136	6079	-	-	-	SO:0001583	missense	0			AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.712G>A	X.37:g.118243104C>T	ENSP00000384670:p.Glu238Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZCI8|Q5JPN4	Missense_Mutation	SNP	NULL	p.E238K	ENST00000402510.2	37	c.712	CCDS48156.1	X	.	.	.	.	.	.	.	.	.	.	C	12.50	1.956999	0.34565	.	.	ENSG00000250423;ENSG00000241087	ENST00000402510;ENST00000420240	T	0.12774	2.65	5.49	3.71	0.42584	.	.	.	.	.	T	0.10121	0.0248	N	0.14661	0.345	0.09310	N	1	P	0.39157	0.662	B	0.43301	0.415	T	0.22417	-1.0217	9	0.41790	T	0.15	.	7.2652	0.26226	0.0:0.7404:0.1655:0.0941	.	238	Q9ULL0	K1210_HUMAN	K	238;74	ENSP00000384670:E238K	ENSP00000396164:E74K	E	-	1	0	RP13-347D8.5;RP13-347D8.6	118127132	0.039000	0.19947	0.021000	0.16686	0.025000	0.11179	0.732000	0.26072	0.598000	0.29829	0.600000	0.82982	GAG	KIAA1210	-	NULL	ENSG00000250423		0.488	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1210	HGNC	protein_coding	OTTHUMT00000371251.2	97	0.00	0	C	NM_020721		118243104	118243104	-1	no_errors	ENST00000402510	ensembl	human	known	69_37n	missense	60	21.79	17	SNP	0.014	T
KIAA1217	56243	genome.wustl.edu	37	10	24722000	24722000	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:24722000C>T	ENST00000376454.3	+	4	660	c.630C>T	c.(628-630)atC>atT	p.I210I	KIAA1217_ENST00000376462.1_Silent_p.I130I|KIAA1217_ENST00000430453.2_Silent_p.I131I|KIAA1217_ENST00000458595.1_Silent_p.I210I|KIAA1217_ENST00000376452.3_Silent_p.I210I	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	210					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CAGACACAATCCGTGCTCTCT	0.458																																						dbGAP											0													125.0	105.0	112.0					10																	24722000		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.630C>T	10.37:g.24722000C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Silent	SNP	pfam_AIP3_C	p.I210	ENST00000376454.3	37	c.630	CCDS31165.1	10																																																																																			KIAA1217	-	pfam_AIP3_C	ENSG00000120549		0.458	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1217	HGNC	protein_coding	OTTHUMT00000047223.2	70	0.00	0	C	NM_019590		24722000	24722000	+1	no_errors	ENST00000376454	ensembl	human	known	69_37n	silent	53	19.70	13	SNP	1.000	T
KIAA1217	56243	genome.wustl.edu	37	10	24822141	24822141	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:24822141G>C	ENST00000376454.3	+	16	3419	c.3389G>C	c.(3388-3390)gGa>gCa	p.G1130A	KIAA1217_ENST00000376462.1_Missense_Mutation_p.G1050A|KIAA1217_ENST00000396446.1_Missense_Mutation_p.G813A|KIAA1217_ENST00000307544.6_Missense_Mutation_p.G813A|KIAA1217_ENST00000396445.1_Missense_Mutation_p.G813A|KIAA1217_ENST00000458595.1_Missense_Mutation_p.G1095A|KIAA1217_ENST00000376451.2_Missense_Mutation_p.G813A|KIAA1217_ENST00000376452.3_Missense_Mutation_p.G1094A	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1130					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GAAGAAGAAGGAGACAAAATA	0.537																																						dbGAP											0													65.0	68.0	67.0					10																	24822141		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.3389G>C	10.37:g.24822141G>C	ENSP00000365637:p.Gly1130Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	pfam_AIP3_C	p.G1130A	ENST00000376454.3	37	c.3389	CCDS31165.1	10	.	.	.	.	.	.	.	.	.	.	G	24.0	4.481427	0.84747	.	.	ENSG00000120549	ENST00000376462;ENST00000458595;ENST00000442879;ENST00000376454;ENST00000376452;ENST00000307544;ENST00000450158;ENST00000396445;ENST00000376451;ENST00000396446	T;T;T;T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.80019	0.4547	M	0.71581	2.175	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.999;0.999;0.998;0.999;1.0;0.999;0.999;0.999	T	0.80042	-0.1548	10	0.62326	D	0.03	.	20.0537	0.97638	0.0:0.0:1.0:0.0	.	1095;1094;813;813;813;813;1130;1130	Q5T5P2-7;A6NLF3;Q5T5P2-4;Q5T5P2-8;Q5T5P2-3;Q5T5P2-6;Q5T5P2;Q5T5P2-2	.;.;.;.;.;.;SKT_HUMAN;.	A	1050;1095;813;1130;1094;813;813;813;813;813	ENSP00000365645:G1050A;ENSP00000392625:G1095A;ENSP00000365637:G1130A;ENSP00000365635:G1094A;ENSP00000302343:G813A;ENSP00000379722:G813A;ENSP00000365634:G813A;ENSP00000379723:G813A	ENSP00000302343:G813A	G	+	2	0	KIAA1217	24862147	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	7.855000	0.86950	2.758000	0.94735	0.561000	0.74099	GGA	KIAA1217	-	NULL	ENSG00000120549		0.537	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1217	HGNC	protein_coding	OTTHUMT00000047223.2	35	0.00	0	G	NM_019590		24822141	24822141	+1	no_errors	ENST00000376454	ensembl	human	known	69_37n	missense	49	20.97	13	SNP	1.000	C
KIAA1217	56243	genome.wustl.edu	37	10	24835126	24835126	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:24835126C>G	ENST00000376454.3	+	21	5735	c.5705C>G	c.(5704-5706)tCc>tGc	p.S1902C	KIAA1217_ENST00000376462.1_Missense_Mutation_p.S1223C|KIAA1217_ENST00000396445.1_3'UTR|KIAA1217_ENST00000458595.1_Missense_Mutation_p.S1308C|KIAA1217_ENST00000376451.2_3'UTR|KIAA1217_ENST00000376452.3_Missense_Mutation_p.S1333C	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1902	Ser-rich. {ECO:0000255}.				embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						tctcctgcctcctccgtctcA	0.537																																						dbGAP											0													107.0	91.0	96.0					10																	24835126		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.5705C>G	10.37:g.24835126C>G	ENSP00000365637:p.Ser1902Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	pfam_AIP3_C	p.S1902C	ENST00000376454.3	37	c.5705	CCDS31165.1	10	.	.	.	.	.	.	.	.	.	.	C	11.10	1.540293	0.27563	.	.	ENSG00000120549	ENST00000376462;ENST00000458595;ENST00000376454;ENST00000376452;ENST00000450158	T;T;T;T	0.53206	0.64;0.63;1.02;0.65	4.51	4.51	0.55191	.	0.077378	0.53938	D	0.000051	T	0.66655	0.2811	M	0.66939	2.045	0.80722	D	1	D;P;D;D	0.89917	1.0;0.726;1.0;1.0	D;B;D;D	0.70935	0.944;0.433;0.971;0.961	T	0.71391	-0.4607	10	0.66056	D	0.02	.	16.8539	0.86000	0.0:1.0:0.0:0.0	.	1308;1333;1902;1303	Q5T5P2-7;A6NLF3;Q5T5P2;Q5T5P2-2	.;.;SKT_HUMAN;.	C	1223;1308;1902;1333;1491	ENSP00000365645:S1223C;ENSP00000392625:S1308C;ENSP00000365637:S1902C;ENSP00000365635:S1333C	ENSP00000365635:S1333C	S	+	2	0	KIAA1217	24875132	1.000000	0.71417	0.998000	0.56505	0.467000	0.32768	5.612000	0.67681	2.061000	0.61500	0.655000	0.94253	TCC	KIAA1217	-	NULL	ENSG00000120549		0.537	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1217	HGNC	protein_coding	OTTHUMT00000047223.2	116	0.00	0	C	NM_019590		24835126	24835126	+1	no_errors	ENST00000376454	ensembl	human	known	69_37n	missense	115	18.44	26	SNP	1.000	G
NWD2	57495	genome.wustl.edu	37	4	37445648	37445648	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:37445648G>A	ENST00000309447.5	+	7	2886	c.2038G>A	c.(2038-2040)Gtg>Atg	p.V680M		NM_001144990.1	NP_001138462.1	Q9ULI1	NWD2_HUMAN		680	NACHT.									breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(2)|skin(2)	16						ACTGGAGGATGTGTTAGCCCT	0.478																																						dbGAP											0													74.0	67.0	69.0					4																	37445648		692	1591	2283	-	-	-	SO:0001583	missense	0																														ENST00000309447.5:c.2038G>A	4.37:g.37445648G>A	ENSP00000309501:p.Val680Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MRU1	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.V680M	ENST00000309447.5	37	c.2038	CCDS47040.1	4	.	.	.	.	.	.	.	.	.	.	G	14.75	2.629370	0.46944	.	.	ENSG00000174145	ENST00000309447	D	0.83163	-1.69	6.05	5.2	0.72013	.	0.065711	0.64402	D	0.000006	T	0.78013	0.4217	L	0.46157	1.445	0.41933	D	0.990571	P	0.42409	0.779	B	0.42462	0.388	T	0.78590	-0.2145	10	0.56958	D	0.05	.	8.2052	0.31452	0.2321:0.0:0.7679:0.0	.	680	Q9ULI1	K1239_HUMAN	M	680	ENSP00000309501:V680M	ENSP00000309501:V680M	V	+	1	0	KIAA1239	37122043	1.000000	0.71417	0.950000	0.38849	0.932000	0.56968	5.059000	0.64306	2.878000	0.98634	0.650000	0.86243	GTG	KIAA1239	-	NULL	ENSG00000174145		0.478	KIAA1239-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1239	HGNC	protein_coding	OTTHUMT00000347551.2	45	0.00	0	G			37445648	37445648	+1	no_errors	ENST00000309447	ensembl	human	known	69_37n	missense	38	26.92	14	SNP	0.997	A
NWD2	57495	genome.wustl.edu	37	4	37446766	37446766	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:37446766C>G	ENST00000309447.5	+	7	4004	c.3156C>G	c.(3154-3156)acC>acG	p.T1052T		NM_001144990.1	NP_001138462.1	Q9ULI1	NWD2_HUMAN		1052										breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(2)|skin(2)	16						TCAAGGGGACCAAGCATGGAA	0.468																																						dbGAP											0													163.0	132.0	141.0					4																	37446766		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0																														ENST00000309447.5:c.3156C>G	4.37:g.37446766C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MRU1	Silent	SNP	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.T1052	ENST00000309447.5	37	c.3156	CCDS47040.1	4																																																																																			KIAA1239	-	superfamily_WD40_repeat_dom	ENSG00000174145		0.468	KIAA1239-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1239	HGNC	protein_coding	OTTHUMT00000347551.2	83	0.00	0	C			37446766	37446766	+1	no_errors	ENST00000309447	ensembl	human	known	69_37n	silent	75	20.21	19	SNP	1.000	G
NWD2	57495	genome.wustl.edu	37	4	37448243	37448243	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:37448243G>C	ENST00000309447.5	+	7	5481	c.4633G>C	c.(4633-4635)Gat>Cat	p.D1545H		NM_001144990.1	NP_001138462.1	Q9ULI1	NWD2_HUMAN		1545										breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(2)|skin(2)	16						AGCCAGGGGAGATGAAAACAT	0.473																																						dbGAP											0													137.0	122.0	127.0					4																	37448243		692	1591	2283	-	-	-	SO:0001583	missense	0																														ENST00000309447.5:c.4633G>C	4.37:g.37448243G>C	ENSP00000309501:p.Asp1545His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MRU1	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.D1545H	ENST00000309447.5	37	c.4633	CCDS47040.1	4	.	.	.	.	.	.	.	.	.	.	G	20.9	4.067708	0.76301	.	.	ENSG00000174145	ENST00000309447	T	0.80033	-1.33	5.95	5.95	0.96441	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.85366	0.5680	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.86420	0.1754	10	0.87932	D	0	.	20.3967	0.98985	0.0:0.0:1.0:0.0	.	1545	Q9ULI1	K1239_HUMAN	H	1545	ENSP00000309501:D1545H	ENSP00000309501:D1545H	D	+	1	0	KIAA1239	37124638	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.416000	0.97383	2.829000	0.97493	0.655000	0.94253	GAT	KIAA1239	-	superfamily_WD40_repeat_dom	ENSG00000174145		0.473	KIAA1239-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1239	HGNC	protein_coding	OTTHUMT00000347551.2	106	0.00	0	G			37448243	37448243	+1	no_errors	ENST00000309447	ensembl	human	known	69_37n	missense	103	18.90	24	SNP	1.000	C
KIAA1244	57221	genome.wustl.edu	37	6	138610956	138610956	+	Splice_Site	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:138610956G>A	ENST00000251691.4	+	18	3064	c.2898G>A	c.(2896-2898)gtG>gtA	p.V966V		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CTGGCACAGTGAAACTAAAAG	0.468																																						dbGAP											0													50.0	43.0	46.0					6																	138610956		2203	4299	6502	-	-	-	SO:0001630	splice_region_variant	0			AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.2897-1G>A	6.37:g.138610956G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_DUF1981_SEC7_assoc,superfamily_ARM-type_fold,superfamily_Sec7,smart_Sec7	p.V966	ENST00000251691.4	37	c.2898	CCDS5189.2	6																																																																																			KIAA1244	-	superfamily_ARM-type_fold	ENSG00000112379		0.468	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIAA1244	HGNC	protein_coding	OTTHUMT00000042425.4	27	0.00	0	G	NM_020340	Silent	138610956	138610956	+1	no_errors	ENST00000251691	ensembl	human	known	69_37n	silent	37	19.57	9	SNP	1.000	A
KIAA1257	57501	genome.wustl.edu	37	3	128712060	128712060	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:128712060C>G	ENST00000265068.5	-	2	255	c.88G>C	c.(88-90)Gag>Cag	p.E30Q	KIAA1257_ENST00000510149.1_Intron|KIAA1257_ENST00000515659.1_5'Flank|KIAA1257_ENST00000511438.1_Missense_Mutation_p.E30Q	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	30										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						ACGTCACACTCGCTCGTGGAC	0.607																																						dbGAP											0													45.0	53.0	50.0					3																	128712060		2154	4239	6393	-	-	-	SO:0001583	missense	0			AB033083	CCDS46905.1	3q21.3	2011-11-07			ENSG00000114656	ENSG00000114656			29231	protein-coding gene	gene with protein product						10574462	Standard	NM_020741		Approved		uc003elj.4	Q9ULG3	OTTHUMG00000159946	ENST00000265068.5:c.88G>C	3.37:g.128712060C>G	ENSP00000265068:p.Glu30Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IXY7|Q8N5T4	Missense_Mutation	SNP	NULL	p.E30Q	ENST00000265068.5	37	c.88	CCDS46905.1	3	.	.	.	.	.	.	.	.	.	.	C	10.99	1.508151	0.27036	.	.	ENSG00000114656	ENST00000511438;ENST00000265068	.	.	.	3.73	0.579	0.17397	.	.	.	.	.	T	0.15825	0.0381	N	0.24115	0.695	0.09310	N	0.999998	P;B	0.35745	0.518;0.273	B;B	0.32149	0.141;0.141	T	0.20174	-1.0283	8	0.72032	D	0.01	.	2.0561	0.03582	0.2027:0.483:0.1975:0.1169	.	30;30	Q9ULG3;D6RH05	K1257_HUMAN;.	Q	30	.	ENSP00000265068:E30Q	E	-	1	0	KIAA1257	130194750	0.000000	0.05858	0.001000	0.08648	0.030000	0.12068	0.029000	0.13666	0.370000	0.24538	0.484000	0.47621	GAG	KIAA1257	-	NULL	ENSG00000114656		0.607	KIAA1257-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	KIAA1257	HGNC	protein_coding	OTTHUMT00000358430.1	42	0.00	0	C	NM_020741		128712060	128712060	-1	no_errors	ENST00000265068	ensembl	human	known	69_37n	missense	67	17.07	14	SNP	0.001	G
KIAA1328	57536	genome.wustl.edu	37	18	34647462	34647462	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr18:34647462C>T	ENST00000280020.5	+	7	1208	c.1186C>T	c.(1186-1188)Ctt>Ttt	p.L396F	KIAA1328_ENST00000435985.2_Missense_Mutation_p.L112F|KIAA1328_ENST00000586135.1_Missense_Mutation_p.L112F|KIAA1328_ENST00000591619.1_Missense_Mutation_p.L392F|KIAA1328_ENST00000586501.1_Missense_Mutation_p.L112F|KIAA1328_ENST00000543923.1_Missense_Mutation_p.L288F	NM_020776.1	NP_065827.1	Q86T90	K1328_HUMAN	KIAA1328	396										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		GACAAAGCTTCTTCTAAAACA	0.438																																						dbGAP											0													15.0	16.0	15.0					18																	34647462		1854	4037	5891	-	-	-	SO:0001583	missense	0			AB037749	CCDS45855.1	18q12.2	2011-12-12			ENSG00000150477	ENSG00000150477			29248	protein-coding gene	gene with protein product						10718198	Standard	XM_005258317		Approved		uc002kzz.3	Q86T90		ENST00000280020.5:c.1186C>T	18.37:g.34647462C>T	ENSP00000280020:p.Leu396Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q05DL0|Q49AG6|Q9P2L8	Missense_Mutation	SNP	NULL	p.L396F	ENST00000280020.5	37	c.1186	CCDS45855.1	18	.	.	.	.	.	.	.	.	.	.	C	18.09	3.546991	0.65198	.	.	ENSG00000150477	ENST00000543923;ENST00000280020;ENST00000383055;ENST00000435985	T;T;T	0.53423	0.62;0.62;0.62	6.17	6.17	0.99709	.	0.190621	0.35870	N	0.002936	T	0.66076	0.2753	M	0.64404	1.975	0.47621	D	0.999473	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.995;0.995;0.995;0.993	T	0.65504	-0.6152	10	0.62326	D	0.03	.	14.9567	0.71120	0.0:0.9326:0.0:0.0674	.	112;396;112;396	Q86T90-4;A8K8C3;Q86T90-3;Q86T90	.;.;.;K1328_HUMAN	F	288;396;396;112	ENSP00000441359:L288F;ENSP00000280020:L396F;ENSP00000390515:L112F	ENSP00000280020:L396F	L	+	1	0	KIAA1328	32901460	0.967000	0.33354	1.000000	0.80357	0.989000	0.77384	2.041000	0.41213	2.941000	0.99782	0.655000	0.94253	CTT	KIAA1328	-	NULL	ENSG00000150477		0.438	KIAA1328-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1328	HGNC	protein_coding	OTTHUMT00000440455.1	40	0.00	0	C	NM_020776		34647462	34647462	+1	no_errors	ENST00000280020	ensembl	human	known	69_37n	missense	27	28.95	11	SNP	0.994	T
KIAA1328	57536	genome.wustl.edu	37	18	34802029	34802029	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr18:34802029G>A	ENST00000280020.5	+	10	1595	c.1573G>A	c.(1573-1575)Gcg>Acg	p.A525T	KIAA1328_ENST00000586135.1_3'UTR|KIAA1328_ENST00000591619.1_Missense_Mutation_p.A521T|KIAA1328_ENST00000543923.1_Missense_Mutation_p.A417T	NM_020776.1	NP_065827.1	Q86T90	K1328_HUMAN	KIAA1328	525										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		CCCAAACTCTGCGCCCAAACC	0.468																																						dbGAP											0													68.0	63.0	64.0					18																	34802029		1875	4107	5982	-	-	-	SO:0001583	missense	0			AB037749	CCDS45855.1	18q12.2	2011-12-12			ENSG00000150477	ENSG00000150477			29248	protein-coding gene	gene with protein product						10718198	Standard	XM_005258317		Approved		uc002kzz.3	Q86T90		ENST00000280020.5:c.1573G>A	18.37:g.34802029G>A	ENSP00000280020:p.Ala525Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q05DL0|Q49AG6|Q9P2L8	Missense_Mutation	SNP	NULL	p.A525T	ENST00000280020.5	37	c.1573	CCDS45855.1	18	.	.	.	.	.	.	.	.	.	.	G	16.91	3.253637	0.59212	.	.	ENSG00000150477	ENST00000543923;ENST00000280020;ENST00000383055	T;T	0.56275	0.53;0.47	6.03	6.03	0.97812	.	0.147763	0.44097	D	0.000481	T	0.68137	0.2968	L	0.55481	1.735	0.80722	D	1	D;D	0.71674	0.998;0.994	D;P	0.65874	0.939;0.83	T	0.63875	-0.6538	10	0.41790	T	0.15	.	18.7374	0.91761	0.0:0.0:1.0:0.0	.	525;525	A8K8C3;Q86T90	.;K1328_HUMAN	T	417;525;525	ENSP00000441359:A417T;ENSP00000280020:A525T	ENSP00000280020:A525T	A	+	1	0	KIAA1328	33056027	1.000000	0.71417	0.947000	0.38551	0.008000	0.06430	2.317000	0.43770	2.861000	0.98227	0.655000	0.94253	GCG	KIAA1328	-	NULL	ENSG00000150477		0.468	KIAA1328-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1328	HGNC	protein_coding	OTTHUMT00000440455.1	129	0.00	0	G	NM_020776		34802029	34802029	+1	no_errors	ENST00000280020	ensembl	human	known	69_37n	missense	38	60.82	59	SNP	0.999	A
MAP10	54627	genome.wustl.edu	37	1	232941079	232941079	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:232941079C>A	ENST00000418460.1	+	1	437	c.310C>A	c.(310-312)Ccg>Acg	p.P104T		NM_019090.2	NP_061963.2	Q9P2G4	MAP10_HUMAN	microtubule-associated protein 10	0					cytoplasmic microtubule organization (GO:0031122)|positive regulation of cytokinesis (GO:0032467)|regulation of microtubule-based process (GO:0032886)|spindle midzone assembly involved in mitosis (GO:0051256)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)	microtubule binding (GO:0008017)										TGGAGCGCTTCCGCAAATCTC	0.592																																						dbGAP											0													42.0	46.0	45.0					1																	232941079		1946	4155	6101	-	-	-	SO:0001583	missense	0			AB037804	CCDS44334.1	1q42.2	2013-02-12	2013-02-12	2013-02-12	ENSG00000212916	ENSG00000212916			29265	protein-coding gene	gene with protein product	"""microtubule regulator 120 KDa"""		"""KIAA1383"""	KIAA1383		23264731	Standard	NM_019090		Approved	MTR120	uc001hvh.2	Q9P2G4	OTTHUMG00000037819	ENST00000418460.1:c.310C>A	1.37:g.232941079C>A	ENSP00000403208:p.Pro104Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2F1|Q32MI1|Q58EZ9|Q5VV83	Missense_Mutation	SNP	NULL	p.P104T	ENST00000418460.1	37	c.310	CCDS44334.1	1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.973969	0.53720	.	.	ENSG00000212916	ENST00000418460	.	.	.	3.28	-1.88	0.07713	.	.	.	.	.	T	0.32615	0.0835	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.34502	-0.9826	5	0.45353	T	0.12	.	4.5478	0.12090	0.0:0.4165:0.3326:0.2509	.	.	.	.	T	104	.	ENSP00000403208:P104T	P	+	1	0	KIAA1383	231007702	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.092000	0.11129	-0.331000	0.08501	0.313000	0.20887	CCG	KIAA1383	-	NULL	ENSG00000212916		0.592	MAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1383	HGNC	protein_coding	OTTHUMT00000092317.3	42	0.00	0	C	NM_019090		232941079	232941079	+1	no_errors	ENST00000418460	ensembl	human	known	69_37n	missense	65	22.62	19	SNP	0.000	A
KIAA1407	57577	genome.wustl.edu	37	3	113684194	113684194	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:113684194C>G	ENST00000295878.3	-	17	2765	c.2619G>C	c.(2617-2619)tgG>tgC	p.W873C		NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	873										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						GAAGGGTGATCCAGAGGATCC	0.338																																						dbGAP											0													66.0	71.0	69.0					3																	113684194		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.2619G>C	3.37:g.113684194C>G	ENSP00000295878:p.Trp873Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DYL1|Q9P2E0	Missense_Mutation	SNP	NULL	p.W873C	ENST00000295878.3	37	c.2619	CCDS2977.1	3	.	.	.	.	.	.	.	.	.	.	C	8.741	0.919003	0.17982	.	.	ENSG00000163617	ENST00000295878	T	0.31247	1.5	5.27	1.86	0.25419	.	1.332240	0.04852	N	0.442557	T	0.36468	0.0968	L	0.44542	1.39	0.09310	N	1	D	0.63046	0.992	P	0.53146	0.719	T	0.15321	-1.0441	10	0.38643	T	0.18	.	5.0182	0.14347	0.1154:0.4457:0.3288:0.1102	.	873	Q8NCU4	K1407_HUMAN	C	873	ENSP00000295878:W873C	ENSP00000295878:W873C	W	-	3	0	KIAA1407	115166884	0.000000	0.05858	0.071000	0.20095	0.636000	0.38137	0.164000	0.16542	0.538000	0.28769	0.650000	0.86243	TGG	KIAA1407	-	NULL	ENSG00000163617		0.338	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1407	HGNC	protein_coding	OTTHUMT00000354724.2	45	0.00	0	C	NM_020817		113684194	113684194	-1	no_errors	ENST00000295878	ensembl	human	known	69_37n	missense	59	27.16	22	SNP	0.000	G
KIAA1429	25962	genome.wustl.edu	37	8	95504988	95504988	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:95504988G>C	ENST00000297591.5	-	21	4775	c.4700C>G	c.(4699-4701)tCa>tGa	p.S1567*	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1567					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			CTCTAATTCTGAGTGCAAATC	0.353																																						dbGAP											0													110.0	101.0	104.0					8																	95504988		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.4700C>G	8.37:g.95504988G>C	ENSP00000297591:p.Ser1567*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Nonsense_Mutation	SNP	superfamily_ARM-type_fold	p.S1567*	ENST00000297591.5	37	c.4700	CCDS34923.1	8	.	.	.	.	.	.	.	.	.	.	G	46	12.926578	0.99707	.	.	ENSG00000164944	ENST00000297591	.	.	.	5.51	5.51	0.81932	.	0.196490	0.42420	D	0.000709	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-3.1888	19.4259	0.94741	0.0:0.0:1.0:0.0	.	.	.	.	X	1567	.	ENSP00000297591:S1567X	S	-	2	0	KIAA1429	95574164	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	9.476000	0.97823	2.595000	0.87683	0.585000	0.79938	TCA	KIAA1429	-	NULL	ENSG00000164944		0.353	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1429	HGNC	protein_coding	OTTHUMT00000378720.2	129	0.00	0	G	NM_015496		95504988	95504988	-1	no_errors	ENST00000297591	ensembl	human	known	69_37n	nonsense	63	57.62	87	SNP	1.000	C
KIAA1429	25962	genome.wustl.edu	37	8	95518894	95518894	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:95518894C>G	ENST00000297591.5	-	16	4006	c.3931G>C	c.(3931-3933)Gag>Cag	p.E1311Q	KIAA1429_ENST00000437199.1_Missense_Mutation_p.E1311Q	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1311					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GAGAGCTGCTCCAGTTCAGAA	0.393																																						dbGAP											0													86.0	91.0	89.0					8																	95518894		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.3931G>C	8.37:g.95518894C>G	ENSP00000297591:p.Glu1311Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E1311Q	ENST00000297591.5	37	c.3931	CCDS34923.1	8	.	.	.	.	.	.	.	.	.	.	C	18.07	3.542622	0.65198	.	.	ENSG00000164944	ENST00000297591;ENST00000437199	T;T	0.68624	-0.24;-0.34	5.77	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.67353	0.2884	L	0.53249	1.67	0.80722	D	1	B	0.33612	0.419	B	0.41036	0.346	T	0.65651	-0.6116	10	0.35671	T	0.21	-13.4653	14.7868	0.69810	0.0:0.9311:0.0:0.0689	.	1311	Q69YN4	VIR_HUMAN	Q	1311	ENSP00000297591:E1311Q;ENSP00000395600:E1311Q	ENSP00000297591:E1311Q	E	-	1	0	KIAA1429	95588070	1.000000	0.71417	0.997000	0.53966	0.764000	0.43329	7.221000	0.78016	1.446000	0.47643	-0.259000	0.10710	GAG	KIAA1429	-	superfamily_ARM-type_fold	ENSG00000164944		0.393	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1429	HGNC	protein_coding	OTTHUMT00000378720.2	52	0.00	0	C	NM_015496		95518894	95518894	-1	no_errors	ENST00000297591	ensembl	human	known	69_37n	missense	63	13.70	10	SNP	1.000	G
KIAA1429	25962	genome.wustl.edu	37	8	95522665	95522665	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:95522665C>A	ENST00000297591.5	-	14	3681	c.3606G>T	c.(3604-3606)ttG>ttT	p.L1202F	KIAA1429_ENST00000437199.1_Missense_Mutation_p.L1202F|KIAA1429_ENST00000523405.1_Intron	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1202					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			CTTCTACAATCAAATCCAACA	0.343																																						dbGAP											0													74.0	68.0	70.0					8																	95522665		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.3606G>T	8.37:g.95522665C>A	ENSP00000297591:p.Leu1202Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.L1202F	ENST00000297591.5	37	c.3606	CCDS34923.1	8	.	.	.	.	.	.	.	.	.	.	C	14.20	2.465563	0.43839	.	.	ENSG00000164944	ENST00000297591;ENST00000437199	T;T	0.68331	-0.32;-0.32	5.75	5.75	0.90469	.	0.070217	0.56097	D	0.000023	T	0.71392	0.3334	L	0.55481	1.735	0.58432	D	0.999991	D	0.62365	0.991	P	0.61070	0.883	T	0.66744	-0.5846	10	0.21014	T	0.42	-7.3062	9.2902	0.37782	0.0:0.7713:0.1475:0.0812	.	1202	Q69YN4	VIR_HUMAN	F	1202	ENSP00000297591:L1202F;ENSP00000395600:L1202F	ENSP00000297591:L1202F	L	-	3	2	KIAA1429	95591841	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.220000	0.42908	2.716000	0.92895	0.650000	0.86243	TTG	KIAA1429	-	NULL	ENSG00000164944		0.343	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1429	HGNC	protein_coding	OTTHUMT00000378720.2	70	0.00	0	C	NM_015496		95522665	95522665	-1	no_errors	ENST00000297591	ensembl	human	known	69_37n	missense	85	19.05	20	SNP	1.000	A
CFAP97	57587	genome.wustl.edu	37	4	186096982	186096982	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:186096982G>A	ENST00000458385.2	-	3	1397	c.1278C>T	c.(1276-1278)ctC>ctT	p.L426L	KIAA1430_ENST00000502992.1_5'UTR|KIAA1430_ENST00000296775.6_Silent_p.L426L|KIAA1430_ENST00000514798.1_Silent_p.L426L	NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN		426										endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		TCTGTCTGTTGAGAGCACTGT	0.398																																						dbGAP											0													166.0	160.0	162.0					4																	186096982		1857	4104	5961	-	-	-	SO:0001819	synonymous_variant	0																														ENST00000458385.2:c.1278C>T	4.37:g.186096982G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KRP7|D3DP60|Q05CU1|Q4W5M4|Q8N6E7|Q9UF45	Silent	SNP	NULL	p.L426	ENST00000458385.2	37	c.1278	CCDS47168.1	4																																																																																			KIAA1430	-	NULL	ENSG00000164323		0.398	KIAA1430-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	KIAA1430	HGNC	protein_coding	OTTHUMT00000360717.2	215	0.00	0	G			186096982	186096982	-1	no_errors	ENST00000296775	ensembl	human	known	69_37n	silent	126	25.73	44	SNP	1.000	A
RIC1	57589	genome.wustl.edu	37	9	5765447	5765447	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:5765447G>A	ENST00000414202.2	+	20	3066	c.2875G>A	c.(2875-2877)Gct>Act	p.A959T	KIAA1432_ENST00000381532.2_Missense_Mutation_p.A880T|KIAA1432_ENST00000449720.2_Missense_Mutation_p.A843T|KIAA1432_ENST00000418622.3_Missense_Mutation_p.A880T|KIAA1432_ENST00000251879.6_Missense_Mutation_p.A959T	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2														breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		TAGGCAACATGCTACCCTTCT	0.408																																						dbGAP											0													168.0	152.0	158.0					9																	5765447		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000414202.2:c.2875G>A	9.37:g.5765447G>A	ENSP00000416696:p.Ala959Thr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ribosome_control_1,superfamily_WD40_repeat_dom	p.A880T	ENST00000414202.2	37	c.2638	CCDS34982.2	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.445115|5.445115	0.96187|0.96187	.|.	.|.	ENSG00000107036|ENSG00000107036	ENST00000251879;ENST00000414202;ENST00000381532;ENST00000418622;ENST00000449720|ENST00000545641	.|.	.|.	.|.	6.17|6.17	6.17|6.17	0.99709|0.99709	Ribosome control protein 1 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75583|0.75583	0.3869|0.3869	M|M	0.64080|0.64080	1.96|1.96	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	0.999;1.0;0.999;1.0|.	T|T	0.70436|0.70436	-0.4872|-0.4872	9|5	0.54805|.	T|.	0.06|.	-14.7588|-14.7588	20.8794|20.8794	0.99867|0.99867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	843;880;959;959|.	B7ZM67;B2RN24;Q4ADV7;G5E932|.	.;.;RIC1_HUMAN;.|.	T|Y	959;959;880;880;843|850	.|.	ENSP00000251879:A959T|.	A|C	+|+	1|2	0|0	KIAA1432|KIAA1432	5755447|5755447	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.969000|0.969000	0.65631|0.65631	9.476000|9.476000	0.97823|0.97823	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GCT|TGC	KIAA1432	-	pfam_Ribosome_control_1	ENSG00000107036		0.408	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	KIAA1432	HGNC	protein_coding	OTTHUMT00000051636.3	116	0.00	0	G			5765447	5765447	+1	no_errors	ENST00000418622	ensembl	human	known	69_37n	missense	138	21.14	37	SNP	1.000	A
KIAA1462	57608	genome.wustl.edu	37	10	30318731	30318731	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:30318731G>A	ENST00000375377.1	-	3	447	c.346C>T	c.(346-348)Cgg>Tgg	p.R116W		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	116					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						CCTCTTCTCCGGTAGGCTTGG	0.567																																						dbGAP											0													60.0	60.0	60.0					10																	30318731		2022	4194	6216	-	-	-	SO:0001583	missense	0			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.346C>T	10.37:g.30318731G>A	ENSP00000364526:p.Arg116Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	NULL	p.R116W	ENST00000375377.1	37	c.346	CCDS41500.1	10	.	.	.	.	.	.	.	.	.	.	G	15.91	2.972161	0.53614	.	.	ENSG00000165757	ENST00000375377	T	0.13778	2.56	5.45	-8.45	0.00946	.	0.721838	0.14482	N	0.316863	T	0.02727	0.0082	N	0.00972	-1.085	0.26650	N	0.972114	B	0.09022	0.002	B	0.01281	0.0	T	0.32188	-0.9916	10	0.49607	T	0.09	-1.1314	4.4525	0.11628	0.3738:0.0:0.2351:0.391	.	116	Q9P266	K1462_HUMAN	W	116	ENSP00000364526:R116W	ENSP00000364526:R116W	R	-	1	2	KIAA1462	30358737	0.387000	0.25188	0.000000	0.03702	0.000000	0.00434	0.993000	0.29680	-2.016000	0.00945	-2.342000	0.00245	CGG	KIAA1462	-	NULL	ENSG00000165757		0.567	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1462	HGNC	protein_coding	OTTHUMT00000047409.1	31	0.00	0	G	NM_020848		30318731	30318731	-1	no_errors	ENST00000375377	ensembl	human	known	69_37n	missense	47	34.72	25	SNP	0.019	A
KIAA1468	57614	genome.wustl.edu	37	18	59878437	59878437	+	Nonsense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr18:59878437C>G	ENST00000398130.2	+	2	810	c.578C>G	c.(577-579)tCa>tGa	p.S193*	KIAA1468_ENST00000256858.6_Nonsense_Mutation_p.S193*	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	193										autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				GCAAGATATTCAGATGATGGT	0.308																																						dbGAP											0													85.0	80.0	82.0					18																	59878437		1810	4076	5886	-	-	-	SO:0001587	stop_gained	0			BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.578C>G	18.37:g.59878437C>G	ENSP00000381198:p.Ser193*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_HEAT_type_2,pfscan_LisH_dimerisation	p.S193*	ENST00000398130.2	37	c.578	CCDS11979.2	18	.	.	.	.	.	.	.	.	.	.	C	39	7.610749	0.98387	.	.	ENSG00000134444	ENST00000398130;ENST00000256858	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.8029	19.5141	0.95155	0.0:1.0:0.0:0.0	.	.	.	.	X	193	.	.	S	+	2	0	KIAA1468	58029417	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.240000	0.78192	2.629000	0.89072	0.650000	0.86243	TCA	KIAA1468	-	NULL	ENSG00000134444		0.308	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1468	HGNC	protein_coding	OTTHUMT00000256187.1	130	0.00	0	C	NM_020854		59878437	59878437	+1	no_errors	ENST00000256858	ensembl	human	known	69_37n	nonsense	37	27.45	14	SNP	1.000	G
KIAA1524	57650	genome.wustl.edu	37	3	108276102	108276102	+	Missense_Mutation	SNP	C	C	T	rs75738912		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:108276102C>T	ENST00000295746.8	-	17	2249	c.2173G>A	c.(2173-2175)Gaa>Aaa	p.E725K	KIAA1524_ENST00000491772.1_Missense_Mutation_p.E566K	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	725					positive regulation of neural precursor cell proliferation (GO:2000179)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GTCAGTATTTCATGTTCTTCA	0.378																																						dbGAP											0													129.0	128.0	128.0					3																	108276102		2202	4300	6502	-	-	-	SO:0001583	missense	0			AB040957	CCDS33812.1	3q13.13	2014-01-14			ENSG00000163507	ENSG00000163507			29302	protein-coding gene	gene with protein product	"""cancerous inhibitor of protein phosphatase 2A"""	610643				10819331, 24214971	Standard	NM_020890		Approved	CIP2A	uc003dxb.4	Q8TCG1	OTTHUMG00000159233	ENST00000295746.8:c.2173G>A	3.37:g.108276102C>T	ENSP00000295746:p.Glu725Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4J7|B9EGC3|Q6P4G6|Q8WVP8|Q96PI2|Q9H9C6|Q9P204	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E725K	ENST00000295746.8	37	c.2173	CCDS33812.1	3	.	.	.	.	.	.	.	.	.	.	C	19.91	3.915041	0.72983	.	.	ENSG00000163507	ENST00000491772;ENST00000295746	T;T	0.20598	2.06;2.06	6.03	5.17	0.71159	.	0.046872	0.85682	D	0.000000	T	0.24275	0.0588	L	0.32530	0.975	0.41367	D	0.98746	P	0.51653	0.947	P	0.48524	0.58	T	0.01492	-1.1341	10	0.44086	T	0.13	-19.2937	15.2853	0.73822	0.0:0.9333:0.0:0.0667	.	725	Q8TCG1	CIP2A_HUMAN	K	566;725	ENSP00000419487:E566K;ENSP00000295746:E725K	ENSP00000295746:E725K	E	-	1	0	KIAA1524	109758792	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.133000	0.57983	1.572000	0.49736	0.557000	0.71058	GAA	KIAA1524	-	NULL	ENSG00000163507		0.378	KIAA1524-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1524	HGNC	protein_coding	OTTHUMT00000353975.2	164	0.00	0	C	NM_020890		108276102	108276102	-1	no_errors	ENST00000295746	ensembl	human	known	69_37n	missense	145	16.18	28	SNP	1.000	T
KIAA1549	57670	genome.wustl.edu	37	7	138601600	138601600	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:138601600C>T	ENST00000422774.1	-	2	2820	c.2772G>A	c.(2770-2772)gtG>gtA	p.V924V	KIAA1549_ENST00000242365.4_Silent_p.V874V|KIAA1549_ENST00000440172.1_Silent_p.V924V			Q9HCM3	K1549_HUMAN	KIAA1549	924						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TGAAGGCAGTCACGGGACGCA	0.592			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	dbGAP		Dom	yes		7	7q34	57670	KIAA1549		O	0													45.0	49.0	48.0					7																	138601600		2131	4238	6369	-	-	-	SO:0001819	synonymous_variant	0				CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.2772G>A	7.37:g.138601600C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Silent	SNP	NULL	p.V924	ENST00000422774.1	37	c.2772	CCDS56513.1	7																																																																																			KIAA1549	-	NULL	ENSG00000122778		0.592	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1549	HGNC	protein_coding	OTTHUMT00000348092.1	43	0.00	0	C			138601600	138601600	-1	no_errors	ENST00000422774	ensembl	human	known	69_37n	silent	40	36.51	23	SNP	0.001	T
KIAA1549	57670	genome.wustl.edu	37	7	138603449	138603449	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:138603449G>C	ENST00000422774.1	-	2	971	c.923C>G	c.(922-924)tCa>tGa	p.S308*	KIAA1549_ENST00000242365.4_Nonsense_Mutation_p.S258*|KIAA1549_ENST00000440172.1_Nonsense_Mutation_p.S308*			Q9HCM3	K1549_HUMAN	KIAA1549	308						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TGGAGGCTGTGAGACCTCCCC	0.517			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	dbGAP		Dom	yes		7	7q34	57670	KIAA1549		O	0													77.0	81.0	80.0					7																	138603449		1970	4150	6120	-	-	-	SO:0001587	stop_gained	0				CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.923C>G	7.37:g.138603449G>C	ENSP00000416040:p.Ser308*	Somatic		WXS	Illumina GAIIx	Phase_IV	B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Nonsense_Mutation	SNP	NULL	p.S308*	ENST00000422774.1	37	c.923	CCDS56513.1	7	.	.	.	.	.	.	.	.	.	.	G	38	6.823613	0.97865	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	.	.	.	4.57	3.69	0.42338	.	0.887861	0.09369	N	0.811550	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	10.0237	0.42059	0.0932:0.0:0.9068:0.0	.	.	.	.	X	308;258;308	.	ENSP00000242365:S258X	S	-	2	0	KIAA1549	138253989	0.023000	0.18921	0.178000	0.23040	0.697000	0.40408	1.518000	0.35877	1.145000	0.42336	0.561000	0.74099	TCA	KIAA1549	-	NULL	ENSG00000122778		0.517	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1549	HGNC	protein_coding	OTTHUMT00000348092.1	27	0.00	0	G			138603449	138603449	-1	no_errors	ENST00000422774	ensembl	human	known	69_37n	nonsense	30	25.00	10	SNP	0.102	C
KIAA1551	55196	genome.wustl.edu	37	12	32137007	32137007	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:32137007G>A	ENST00000312561.4	+	4	3532	c.3118G>A	c.(3118-3120)Gaa>Aaa	p.E1040K	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	1040																	TGCAAGAAATGAAATCCACAG	0.438																																						dbGAP											0													123.0	115.0	118.0					12																	32137007		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.3118G>A	12.37:g.32137007G>A	ENSP00000310338:p.Glu1040Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	NULL	p.E1040K	ENST00000312561.4	37	c.3118	CCDS8725.2	12	.	.	.	.	.	.	.	.	.	.	G	16.99	3.274136	0.59649	.	.	ENSG00000174718	ENST00000312561	T	0.22945	1.93	5.52	2.49	0.30216	.	1.246160	0.05478	N	0.554260	T	0.40067	0.1102	M	0.64997	1.995	0.09310	N	1	D	0.67145	0.996	P	0.56088	0.791	T	0.16012	-1.0417	9	.	.	.	.	5.7504	0.18144	0.2339:0.1454:0.6207:0.0	.	1040	Q9HCM1	CL035_HUMAN	K	1040	ENSP00000310338:E1040K	.	E	+	1	0	C12orf35	32028274	0.145000	0.22656	0.002000	0.10522	0.018000	0.09664	2.063000	0.41423	1.325000	0.45301	0.557000	0.71058	GAA	KIAA1551	-	NULL	ENSG00000174718		0.438	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1551	HGNC	protein_coding	OTTHUMT00000250307.2	61	0.00	0	G	NM_018169		32137007	32137007	+1	no_errors	ENST00000312561	ensembl	human	known	69_37n	missense	58	24.68	19	SNP	0.000	A
KIAA1614	57710	genome.wustl.edu	37	1	180913537	180913537	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:180913537C>T	ENST00000367588.4	+	8	3227	c.3172C>T	c.(3172-3174)Cac>Tac	p.H1058Y	KIAA1614_ENST00000461346.1_3'UTR|KIAA1614_ENST00000367587.1_Missense_Mutation_p.H679Y|RP11-46A10.5_ENST00000358073.2_RNA	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	1058	Ser-rich.									NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GTCACCCTCTCACCAGCGTCG	0.582																																						dbGAP											0													71.0	75.0	74.0					1																	180913537		1997	4171	6168	-	-	-	SO:0001583	missense	0			AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.3172C>T	1.37:g.180913537C>T	ENSP00000356560:p.His1058Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VZ45|Q9HCF8	Missense_Mutation	SNP	NULL	p.H1058Y	ENST00000367588.4	37	c.3172	CCDS41442.1	1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.773687	0.69992	.	.	ENSG00000135835	ENST00000367588;ENST00000367587	T;T	0.25912	2.34;1.77	5.06	4.14	0.48551	.	0.309461	0.30260	N	0.010023	T	0.38241	0.1033	L	0.56769	1.78	0.35862	D	0.827602	D;D	0.64830	0.965;0.994	P;P	0.59424	0.563;0.857	T	0.52200	-0.8607	9	0.44086	T	0.13	-9.3269	8.2057	0.31454	0.159:0.7579:0.0:0.0831	.	679;1058	Q5VZ46-2;Q5VZ46	.;K1614_HUMAN	Y	1058;679	ENSP00000356560:H1058Y;ENSP00000356559:H679Y	ENSP00000356559:H679Y	H	+	1	0	KIAA1614	179180160	0.930000	0.31532	0.862000	0.33874	0.875000	0.50365	0.546000	0.23284	1.114000	0.41781	0.491000	0.48974	CAC	KIAA1614	-	NULL	ENSG00000135835		0.582	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1614	HGNC	protein_coding	OTTHUMT00000085151.1	75	0.00	0	C	XM_046531		180913537	180913537	+1	no_errors	ENST00000367588	ensembl	human	known	69_37n	missense	87	15.53	16	SNP	1.000	T
KIAA1715	80856	genome.wustl.edu	37	2	176812261	176812261	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:176812261G>C	ENST00000272748.4	-	9	900	c.653C>G	c.(652-654)tCa>tGa	p.S218*	KIAA1715_ENST00000535310.1_Nonsense_Mutation_p.S143*|KIAA1715_ENST00000544803.1_Nonsense_Mutation_p.S218*	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	218	Pro-rich.				blood coagulation (GO:0007596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|limb development (GO:0060173)|regulation of chondrocyte differentiation (GO:0032330)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			TAACACATTTGATGATAGGGC	0.478																																						dbGAP											0													113.0	114.0	114.0					2																	176812261		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB051502	CCDS33332.1	2q31	2014-06-27			ENSG00000144320	ENSG00000144320			21610	protein-coding gene	gene with protein product	"""lunapark"", ""limb and neural patterns"""	610236				11214970, 22729086	Standard	NM_030650		Approved	ulnaless, Ul, LNP1, LNP	uc002ukc.1	Q9C0E8	OTTHUMG00000154112	ENST00000272748.4:c.653C>G	2.37:g.176812261G>C	ENSP00000272748:p.Ser218*	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLA8|Q2M2V8|Q2YD99|Q658W8|Q8N5V9|Q96MS5	Nonsense_Mutation	SNP	pfam_DUF2296	p.S218*	ENST00000272748.4	37	c.653	CCDS33332.1	2	.	.	.	.	.	.	.	.	.	.	G	37	6.519252	0.97633	.	.	ENSG00000144320	ENST00000272748;ENST00000536291;ENST00000409660;ENST00000544803;ENST00000535310	.	.	.	5.66	5.66	0.87406	.	0.275088	0.37219	N	0.002187	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-15.8252	19.7413	0.96231	0.0:0.0:1.0:0.0	.	.	.	.	X	218;220;95;218;143	.	ENSP00000272748:S218X	S	-	2	0	KIAA1715	176520507	1.000000	0.71417	0.997000	0.53966	0.588000	0.36517	5.874000	0.69652	2.665000	0.90641	0.655000	0.94253	TCA	KIAA1715	-	NULL	ENSG00000144320		0.478	KIAA1715-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1715	HGNC	protein_coding	OTTHUMT00000333949.3	100	0.00	0	G	XM_042834		176812261	176812261	-1	no_errors	ENST00000544803	ensembl	human	known	69_37n	nonsense	95	21.49	26	SNP	1.000	C
KIAA1731	85459	genome.wustl.edu	37	11	93460369	93460369	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:93460369G>A	ENST00000325212.6	+	24	6889	c.6727G>A	c.(6727-6729)Gat>Aat	p.D2243N	KIAA1731_ENST00000344196.4_Missense_Mutation_p.D423N|KIAA1731_ENST00000411936.1_Missense_Mutation_p.D2243N|KIAA1731_ENST00000531700.1_Missense_Mutation_p.D423N			Q9C0D2	K1731_HUMAN	KIAA1731	2243						centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CAGTTCATCTGATGAAGCTAA	0.343																																						dbGAP											0													60.0	51.0	54.0					11																	93460369		692	1591	2283	-	-	-	SO:0001583	missense	0			AB051518	CCDS44708.1	11q21	2014-03-11			ENSG00000166004	ENSG00000166004			29366	protein-coding gene	gene with protein product						20844083	Standard	NM_033395		Approved		uc009ywb.1	Q9C0D2	OTTHUMG00000167449	ENST00000325212.6:c.6727G>A	11.37:g.93460369G>A	ENSP00000316681:p.Asp2243Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	C9J5H9|C9JQY8|Q8N7L4|Q8N919|Q8N9B0|Q96LT8	Missense_Mutation	SNP	NULL	p.D2243N	ENST00000325212.6	37	c.6727	CCDS44708.1	11	.	.	.	.	.	.	.	.	.	.	G	17.10	3.301783	0.60195	.	.	ENSG00000166004	ENST00000325212;ENST00000411936;ENST00000344196;ENST00000531700;ENST00000531404	T;T	0.14144	2.53;2.54	4.89	2.99	0.34606	.	.	.	.	.	T	0.11537	0.0281	L	0.38175	1.15	0.27202	N	0.960144	B;B;B	0.24368	0.037;0.102;0.037	B;B;B	0.23852	0.018;0.049;0.049	T	0.22312	-1.0220	9	0.87932	D	0	.	7.1163	0.25418	0.0896:0.0:0.7406:0.1697	.	2243;2243;423	Q9C0D2;Q9C0D2-3;Q9C0D2-2	K1731_HUMAN;.;.	N	2243;2243;423;423;255	ENSP00000316681:D2243N;ENSP00000406505:D2243N	ENSP00000316681:D2243N	D	+	1	0	KIAA1731	93100017	1.000000	0.71417	0.777000	0.31699	0.694000	0.40290	2.742000	0.47434	0.456000	0.26937	-0.291000	0.09656	GAT	KIAA1731	-	NULL	ENSG00000166004		0.343	KIAA1731-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1731	HGNC	protein_coding	OTTHUMT00000394640.1	45	0.00	0	G	NM_033395		93460369	93460369	+1	no_errors	ENST00000411936	ensembl	human	known	69_37n	missense	26	61.76	42	SNP	0.880	A
KIAA1919	91749	genome.wustl.edu	37	6	111587262	111587262	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:111587262C>G	ENST00000368847.4	+	4	850	c.497C>G	c.(496-498)tCt>tGt	p.S166C		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	166					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		AACCAATCATCTGATGCTGAC	0.448																																						dbGAP											0													92.0	83.0	86.0					6																	111587262		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC036115	CCDS5090.1	6q22	2013-10-02			ENSG00000173214	ENSG00000173214			21053	protein-coding gene	gene with protein product							Standard	NM_153369		Approved	MGC33953, MFSD4B	uc003puv.4	Q5TF39	OTTHUMG00000015372	ENST00000368847.4:c.497C>G	6.37:g.111587262C>G	ENSP00000357840:p.Ser166Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9M0|Q8IYB6|Q96PW9|Q9P0D6	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.S166C	ENST00000368847.4	37	c.497	CCDS5090.1	6	.	.	.	.	.	.	.	.	.	.	C	12.39	1.923492	0.33908	.	.	ENSG00000173214	ENST00000368847	T	0.49720	0.77	5.85	5.85	0.93711	Major facilitator superfamily domain, general substrate transporter (1);	0.579385	0.19778	N	0.106297	T	0.47710	0.1460	L	0.53249	1.67	0.22940	N	0.998534	D	0.58970	0.984	P	0.59288	0.855	T	0.42258	-0.9462	10	0.38643	T	0.18	-5.6096	14.3374	0.66600	0.0:0.9295:0.0:0.0705	.	166	Q5TF39	NAGT1_HUMAN	C	166	ENSP00000357840:S166C	ENSP00000357840:S166C	S	+	2	0	KIAA1919	111693955	0.051000	0.20477	0.127000	0.21898	0.008000	0.06430	3.209000	0.51122	2.774000	0.95407	0.643000	0.83706	TCT	KIAA1919	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	ENSG00000173214		0.448	KIAA1919-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1919	HGNC	protein_coding	OTTHUMT00000041827.1	113	0.00	0	C	NM_153369		111587262	111587262	+1	no_errors	ENST00000368847	ensembl	human	known	69_37n	missense	84	23.64	26	SNP	0.539	G
KIAA2026	158358	genome.wustl.edu	37	9	5919831	5919831	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:5919831C>A	ENST00000399933.3	-	8	6164	c.6165G>T	c.(6163-6165)ttG>ttT	p.L2055F	KIAA2026_ENST00000381461.2_Missense_Mutation_p.L2025F	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	2055										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TTATGGTATTCAAAATGGCTC	0.458																																						dbGAP											0													81.0	80.0	80.0					9																	5919831		1870	4094	5964	-	-	-	SO:0001583	missense	0			AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.6165G>T	9.37:g.5919831C>A	ENSP00000382815:p.Leu2055Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	superfamily_Bromodomain	p.L2055F	ENST00000399933.3	37	c.6165		9	.	.	.	.	.	.	.	.	.	.	C	13.02	2.112723	0.37242	.	.	ENSG00000183354	ENST00000399933;ENST00000381461	.	.	.	5.49	1.26	0.21427	.	0.000000	0.38217	N	0.001772	T	0.52757	0.1754	M	0.70595	2.14	0.27558	N	0.950268	D	0.89917	1.0	D	0.91635	0.999	T	0.44574	-0.9319	9	0.22109	T	0.4	-5.2253	4.3604	0.11199	0.1438:0.5141:0.0:0.3421	.	2055	Q5HYC2	K2026_HUMAN	F	2055;2025	.	ENSP00000370870:L2025F	L	-	3	2	KIAA2026	5909831	0.975000	0.34042	0.998000	0.56505	0.990000	0.78478	-0.028000	0.12350	0.025000	0.15241	0.655000	0.94253	TTG	KIAA2026	-	NULL	ENSG00000183354		0.458	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	KIAA2026	HGNC	protein_coding	OTTHUMT00000051652.2	74	0.00	0	C	NM_001017969		5919831	5919831	-1	no_errors	ENST00000399933	ensembl	human	novel	69_37n	missense	92	29.77	39	SNP	1.000	A
KIAA2026	158358	genome.wustl.edu	37	9	5922142	5922142	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:5922142C>T	ENST00000399933.3	-	8	3853	c.3854G>A	c.(3853-3855)cGa>cAa	p.R1285Q	KIAA2026_ENST00000381461.2_Missense_Mutation_p.R1255Q	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1285								p.R1285L(1)|p.R460L(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		GTTCCCACCTCGTGTCCTAAC	0.413																																						dbGAP											2	Substitution - Missense(2)	lung(2)											132.0	124.0	126.0					9																	5922142		1897	4122	6019	-	-	-	SO:0001583	missense	0			AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.3854G>A	9.37:g.5922142C>T	ENSP00000382815:p.Arg1285Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	superfamily_Bromodomain	p.R1285Q	ENST00000399933.3	37	c.3854		9	.	.	.	.	.	.	.	.	.	.	C	22.0	4.235746	0.79800	.	.	ENSG00000183354	ENST00000399933;ENST00000381461	.	.	.	4.65	4.65	0.58169	.	0.000000	0.48286	D	0.000181	T	0.65450	0.2692	L	0.29908	0.895	0.37867	D	0.929948	D	0.89917	1.0	D	0.91635	0.999	T	0.65269	-0.6209	9	0.27785	T	0.31	-6.2301	17.7075	0.88312	0.0:1.0:0.0:0.0	.	1285	Q5HYC2	K2026_HUMAN	Q	1285;1255	.	ENSP00000370870:R1255Q	R	-	2	0	KIAA2026	5912142	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.259000	0.78381	2.428000	0.82296	0.555000	0.69702	CGA	KIAA2026	-	NULL	ENSG00000183354		0.413	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	KIAA2026	HGNC	protein_coding	OTTHUMT00000051652.2	163	0.00	0	C	NM_001017969		5922142	5922142	-1	no_errors	ENST00000399933	ensembl	human	novel	69_37n	missense	163	30.34	71	SNP	1.000	T
KIAA2026	158358	genome.wustl.edu	37	9	5929044	5929044	+	Splice_Site	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:5929044C>T	ENST00000399933.3	-	6	2497	c.2498G>A	c.(2497-2499)aGg>aAg	p.R833K	KIAA2026_ENST00000381461.2_Splice_Site_p.R803K	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	833										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TTAAAATTACCTGTTTCTTTG	0.323																																						dbGAP											0													70.0	69.0	69.0					9																	5929044		1816	4075	5891	-	-	-	SO:0001630	splice_region_variant	0			AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.2498+1G>A	9.37:g.5929044C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	superfamily_Bromodomain	p.R833K	ENST00000399933.3	37	c.2498		9	.	.	.	.	.	.	.	.	.	.	C	32	5.187227	0.94923	.	.	ENSG00000183354	ENST00000399933;ENST00000381461	.	.	.	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000005	T	0.67050	0.2852	L	0.29908	0.895	0.43988	D	0.996688	D	0.67145	0.996	D	0.75484	0.986	T	0.63028	-0.6728	8	.	.	.	-7.5108	19.7689	0.96353	0.0:1.0:0.0:0.0	.	833	Q5HYC2	K2026_HUMAN	K	833;803	.	.	R	-	2	0	KIAA2026	5919044	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.204000	0.77872	2.747000	0.94245	0.650000	0.86243	AGG	KIAA2026	-	NULL	ENSG00000183354		0.323	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	KIAA2026	HGNC	protein_coding	OTTHUMT00000051652.2	96	0.00	0	C	NM_001017969	Missense_Mutation	5929044	5929044	-1	no_errors	ENST00000399933	ensembl	human	novel	69_37n	missense	73	17.98	16	SNP	1.000	T
KIAA1958	158405	genome.wustl.edu	37	9	115407974	115407975	+	Missense_Mutation	DNP	GA	GA	AT			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G|A	G|A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:115407974_115407975GA>AT	ENST00000337530.6	+	3	1512_1513	c.1216_1217GA>AT	c.(1216-1218)GAt>ATt	p.D406I	KIAA1958_ENST00000536272.1_Missense_Mutation_p.D434I	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	406										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						TAATATTAATGATGACTTGAAT	0.376																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AB075838	CCDS35108.1, CCDS69642.1	9q33.1	2009-09-22			ENSG00000165185	ENSG00000165185			23427	protein-coding gene	gene with protein product							Standard	NM_001287038		Approved	FLJ39294	uc004bgf.1	Q8N8K9	OTTHUMG00000020508	Exception_encountered	9.37:g.115407974_115407975delinsAT	ENSP00000336940:p.Asp406Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZKW6|Q2M336|Q5T252|Q8TF43|Q96N02	Missense_Mutation	SNP	pfam_DUF3504,superfamily_Integrase_Lambda-type_N	p.D434N|p.D434V	ENST00000337530.6	37	c.1300|c.1301	CCDS35108.1	9																																																																																			KIAA1958	-	NULL	ENSG00000165185		0.376	KIAA1958-001	KNOWN	basic|CCDS	protein_coding	KIAA1958	HGNC	protein_coding	OTTHUMT00000053690.1	96|97	0.00	0	G|A	NM_133465		115407974|115407975	115407974|115407975	+1	no_errors	ENST00000536272	ensembl	human	known	69_37n	missense	87|88	20.91|20.72	23	SNP	1.000	A|T
KIF11	3832	genome.wustl.edu	37	10	94396956	94396956	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:94396956G>A	ENST00000260731.3	+	15	1981	c.1891G>A	c.(1891-1893)Gat>Aat	p.D631N		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	631					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						ACTCAAGACTGATCTTCTAAG	0.303																																					Colon(47;212 1003 2764 4062 8431)	dbGAP											0													98.0	103.0	101.0					10																	94396956		2203	4299	6502	-	-	-	SO:0001583	missense	0			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.1891G>A	10.37:g.94396956G>A	ENSP00000260731:p.Asp631Asn	Somatic		WXS	Illumina GAIIx	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.D631N	ENST00000260731.3	37	c.1891	CCDS7422.1	10	.	.	.	.	.	.	.	.	.	.	G	6.965	0.547900	0.13312	.	.	ENSG00000138160	ENST00000260731	T	0.67345	-0.26	5.2	3.17	0.36434	.	0.973523	0.08433	N	0.946586	T	0.47838	0.1467	N	0.12182	0.205	0.09310	N	0.999992	B	0.12013	0.005	B	0.11329	0.006	T	0.28744	-1.0034	10	0.21014	T	0.42	.	10.2686	0.43470	0.0869:0.1486:0.7645:0.0	.	631	P52732	KIF11_HUMAN	N	631	ENSP00000260731:D631N	ENSP00000260731:D631N	D	+	1	0	KIF11	94386936	1.000000	0.71417	0.576000	0.28549	0.541000	0.35023	2.846000	0.48262	1.163000	0.42636	0.655000	0.94253	GAT	KIF11	-	NULL	ENSG00000138160		0.303	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF11	HGNC	protein_coding	OTTHUMT00000049401.1	90	0.00	0	G	NM_004523		94396956	94396956	+1	no_errors	ENST00000260731	ensembl	human	known	69_37n	missense	53	36.90	31	SNP	0.395	A
KIF13A	63971	genome.wustl.edu	37	6	17837133	17837133	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:17837133C>T	ENST00000259711.6	-	11	1236	c.1131G>A	c.(1129-1131)ctG>ctA	p.L377L	KIF13A_ENST00000378814.5_Silent_p.L377L|KIF13A_ENST00000378826.2_Silent_p.L377L|KIF13A_ENST00000378816.5_Silent_p.L377L|KIF13A_ENST00000378843.2_Silent_p.L377L	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	377					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GCTGCTCTCTCAGTTTCTCGA	0.522																																						dbGAP											0													214.0	210.0	211.0					6																	17837133		1948	4148	6096	-	-	-	SO:0001819	synonymous_variant	0			AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.1131G>A	6.37:g.17837133C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Silent	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L377	ENST00000259711.6	37	c.1131	CCDS47381.1	6																																																																																			KIF13A	-	NULL	ENSG00000137177		0.522	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF13A	HGNC	protein_coding	OTTHUMT00000039954.4	118	0.00	0	C			17837133	17837133	-1	no_errors	ENST00000259711	ensembl	human	known	69_37n	silent	58	51.26	61	SNP	0.090	T
KIF13B	23303	genome.wustl.edu	37	8	29025023	29025023	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:29025023G>C	ENST00000524189.1	-	11	1063	c.1025C>G	c.(1024-1026)tCa>tGa	p.S342*	KIF13B_ENST00000521515.1_Nonsense_Mutation_p.S342*	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	342	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CCGCAGAGTTGAGAGGGTTTC	0.512																																						dbGAP											0													113.0	111.0	112.0					8																	29025023		2010	4174	6184	-	-	-	SO:0001587	stop_gained	0			AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"""Kinesins"""	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.1025C>G	8.37:g.29025023G>C	ENSP00000427900:p.Ser342*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Nonsense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S342*	ENST00000524189.1	37	c.1025	CCDS55217.1	8	.	.	.	.	.	.	.	.	.	.	G	36	5.910748	0.97093	.	.	ENSG00000197892	ENST00000524189;ENST00000521515	.	.	.	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.7644	0.88473	0.0:0.0:1.0:0.0	.	.	.	.	X	342	.	ENSP00000429201:S342X	S	-	2	0	KIF13B	29080942	1.000000	0.71417	0.997000	0.53966	0.754000	0.42855	9.575000	0.98187	2.428000	0.82296	0.561000	0.74099	TCA	KIF13B	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom	ENSG00000197892		0.512	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF13B	HGNC	protein_coding	OTTHUMT00000376878.1	59	0.00	0	G			29025023	29025023	-1	no_errors	ENST00000524189	ensembl	human	known	69_37n	nonsense	20	47.37	18	SNP	1.000	C
KIF14	9928	genome.wustl.edu	37	1	200522551	200522551	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:200522551C>T	ENST00000367350.4	-	30	5350	c.4912G>A	c.(4912-4914)Gag>Aag	p.E1638K		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1638	Required for CIT-binding.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						GTGCATTCCTCTGAGCTCACT	0.453																																						dbGAP											0													183.0	159.0	167.0					1																	200522551		2203	4300	6503	-	-	-	SO:0001583	missense	0			D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.4912G>A	1.37:g.200522551C>T	ENSP00000356319:p.Glu1638Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CI8|Q4G0A5|Q5T1W3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E1638K	ENST00000367350.4	37	c.4912	CCDS30963.1	1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.601732	0.46423	.	.	ENSG00000118193	ENST00000367350	T	0.73047	-0.71	5.52	4.61	0.57282	.	0.489229	0.19594	N	0.110545	T	0.54498	0.1862	N	0.22421	0.69	0.09310	N	1	B	0.15473	0.013	B	0.11329	0.006	T	0.36359	-0.9751	10	0.19147	T	0.46	.	11.3706	0.49697	0.0:0.9149:0.0:0.0851	.	1638	Q15058	KIF14_HUMAN	K	1638	ENSP00000356319:E1638K	ENSP00000356319:E1638K	E	-	1	0	KIF14	198789174	0.040000	0.19996	0.038000	0.18304	0.127000	0.20565	0.944000	0.29043	1.324000	0.45282	0.655000	0.94253	GAG	KIF14	-	NULL	ENSG00000118193		0.453	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF14	HGNC	protein_coding	OTTHUMT00000086878.1	102	0.00	0	C	NM_014875		200522551	200522551	-1	no_errors	ENST00000367350	ensembl	human	known	69_37n	missense	91	26.61	33	SNP	0.075	T
KIF15	56992	genome.wustl.edu	37	3	44854636	44854636	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:44854636G>T	ENST00000326047.4	+	19	2496	c.2347G>T	c.(2347-2349)Gaa>Taa	p.E783*	KIF15_ENST00000425755.1_Nonsense_Mutation_p.E418*	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	783					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		GAATGTCCTTGAAAAGCAGCT	0.343																																						dbGAP											0													78.0	76.0	77.0					3																	44854636		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"""Kinesins"""	17273	protein-coding gene	gene with protein product			"""kinesin-like 7"""	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.2347G>T	3.37:g.44854636G>T	ENSP00000324020:p.Glu783*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RV9|Q69YL6|Q96JX7|Q9H280	Nonsense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E783*	ENST00000326047.4	37	c.2347	CCDS33744.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.830203	0.96996	.	.	ENSG00000163808	ENST00000326047;ENST00000481166;ENST00000396031;ENST00000425755	.	.	.	5.6	5.6	0.85130	.	0.123152	0.36034	N	0.002833	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	19.2071	0.93736	0.0:0.0:1.0:0.0	.	.	.	.	X	783;555;782;418	.	ENSP00000324020:E783X	E	+	1	0	KIF15	44829640	1.000000	0.71417	0.958000	0.39756	0.815000	0.46073	3.547000	0.53663	2.651000	0.90000	0.585000	0.79938	GAA	KIF15	-	NULL	ENSG00000163808		0.343	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF15	HGNC	protein_coding	OTTHUMT00000343831.2	135	0.00	0	G			44854636	44854636	+1	no_errors	ENST00000326047	ensembl	human	known	69_37n	nonsense	106	21.32	29	SNP	1.000	T
KIF16B	55614	genome.wustl.edu	37	20	16351251	16351251	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:16351251G>C	ENST00000354981.2	-	22	3635	c.3478C>G	c.(3478-3480)Caa>Gaa	p.Q1160E	KIF16B_ENST00000408042.1_Missense_Mutation_p.Q1160E|KIF16B_ENST00000355755.3_Missense_Mutation_p.Q1160E|KIF16B_ENST00000378003.2_Missense_Mutation_p.Q386E	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	1160					ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						AGTTTACGTTGAATGGTGCCA	0.358																																						dbGAP											0													124.0	116.0	119.0					20																	16351251		2202	4299	6501	-	-	-	SO:0001583	missense	0			AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.3478C>G	20.37:g.16351251G>C	ENSP00000347076:p.Gln1160Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.Q1160E	ENST00000354981.2	37	c.3478	CCDS13122.1	20	.	.	.	.	.	.	.	.	.	.	G	21.6	4.167877	0.78339	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000378003;ENST00000408042	T;T;T;T	0.71103	-0.49;-0.54;1.17;-0.54	5.76	5.76	0.90799	.	0.057648	0.64402	D	0.000001	T	0.75413	0.3846	L	0.55481	1.735	0.48571	D	0.999673	P;P;P	0.48294	0.908;0.882;0.813	P;P;B	0.49085	0.6;0.466;0.276	T	0.74456	-0.3659	10	0.44086	T	0.13	.	19.9569	0.97222	0.0:0.0:1.0:0.0	.	1160;1160;1160	Q96L93-2;Q96L93-6;Q96L93	.;.;KI16B_HUMAN	E	1160;1160;1004;386;1160	ENSP00000347076:Q1160E;ENSP00000347995:Q1160E;ENSP00000367242:Q386E;ENSP00000384164:Q1160E	ENSP00000347076:Q1160E	Q	-	1	0	KIF16B	16299251	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.424000	0.66464	2.728000	0.93425	0.551000	0.68910	CAA	KIF16B	-	NULL	ENSG00000089177		0.358	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF16B	HGNC	protein_coding	OTTHUMT00000078104.2	178	0.00	0	G	NM_017683		16351251	16351251	-1	no_errors	ENST00000408042	ensembl	human	known	69_37n	missense	140	32.06	67	SNP	1.000	C
KIF18A	81930	genome.wustl.edu	37	11	28084022	28084022	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:28084022C>T	ENST00000263181.6	-	12	1922	c.1632G>A	c.(1630-1632)caG>caA	p.Q544Q		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	544					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|protein transport (GO:0015031)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore microtubule (GO:0005828)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|ruffle (GO:0001726)	actin binding (GO:0003779)|ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|plus-end-directed microtubule motor activity (GO:0008574)|tubulin-dependent ATPase activity (GO:0070463)|ubiquitin binding (GO:0043130)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						AATCTTTGTTCTGGAGGTGCA	0.368																																						dbGAP											0													199.0	174.0	183.0					11																	28084022		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			AL136819	CCDS7867.1	11p14.1	2014-06-12			ENSG00000121621	ENSG00000121621		"""Kinesins"""	29441	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 99"""	611271				11230166	Standard	NM_031217		Approved	DKFZP434G2226, PPP1R99	uc001msc.2	Q8NI77	OTTHUMG00000166195	ENST00000263181.6:c.1632G>A	11.37:g.28084022C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4VPE3|Q86VS5|Q9H0F3	Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.Q544	ENST00000263181.6	37	c.1632	CCDS7867.1	11																																																																																			KIF18A	-	NULL	ENSG00000121621		0.368	KIF18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF18A	HGNC	protein_coding	OTTHUMT00000388328.3	274	0.00	0	C	NM_031217		28084022	28084022	-1	no_errors	ENST00000263181	ensembl	human	known	69_37n	silent	167	23.04	50	SNP	0.998	T
KIF1A	547	genome.wustl.edu	37	2	241722477	241722477	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:241722477G>A	ENST00000320389.7	-	9	1006	c.848C>T	c.(847-849)tCc>tTc	p.S283F	KIF1A_ENST00000498729.2_Missense_Mutation_p.S283F	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	283	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				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)		AGCCAGGGCGGAGATGACCTT	0.652																																						dbGAP											0													92.0	106.0	101.0					2																	241722477		1991	4159	6150	-	-	-	SO:0001583	missense	0			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.848C>T	2.37:g.241722477G>A	ENSP00000322791:p.Ser283Phe	Somatic		WXS	Illumina GAIIx	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,prints_Kinesin_motor_dom,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom	p.S283F	ENST00000320389.7	37	c.848	CCDS46561.1	2	.	.	.	.	.	.	.	.	.	.	g	20.3	3.961548	0.74016	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	T;T;T	0.76448	-1.02;-1.02;-1.02	3.84	3.84	0.44239	Kinesin, motor domain (3);	0.266815	0.37857	U	0.001908	D	0.88815	0.6539	M	0.91038	3.17	0.80722	D	1	D;D;P	0.58620	0.972;0.983;0.953	P;P;P	0.59643	0.861;0.591;0.777	D	0.92146	0.5724	10	0.87932	D	0	.	16.1323	0.81449	0.0:0.0:1.0:0.0	.	283;283;283	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	F	283	ENSP00000322791:S283F;ENSP00000438388:S283F;ENSP00000384231:S283F	ENSP00000322791:S283F	S	-	2	0	KIF1A	241371150	1.000000	0.71417	0.980000	0.43619	0.832000	0.47134	9.548000	0.98103	1.868000	0.54150	0.552000	0.68991	TCC	KIF1A	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom	ENSG00000130294		0.652	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF1A	HGNC	protein_coding	OTTHUMT00000324536.3	84	0.00	0	G	NM_138483		241722477	241722477	-1	no_errors	ENST00000498729	ensembl	human	known	69_37n	missense	102	14.29	17	SNP	1.000	A
KIF1B	23095	genome.wustl.edu	37	1	10425640	10425640	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:10425640G>C	ENST00000377086.1	+	43	4888	c.4686G>C	c.(4684-4686)gaG>gaC	p.E1562D	KIF1B_ENST00000377081.1_Missense_Mutation_p.E1562D|KIF1B_ENST00000263934.6_Missense_Mutation_p.E1516D			O60333	KIF1B_HUMAN	kinesin family member 1B	1562					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)		CACCTAGCGAGAGCAGTGGCT	0.542																																						dbGAP											0													114.0	104.0	107.0					1																	10425640		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.4686G>C	1.37:g.10425640G>C	ENSP00000366290:p.Glu1562Asp	Somatic		WXS	Illumina GAIIx	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.E1516D	ENST00000377086.1	37	c.4548		1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.134497	0.56828	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.73047	-0.63;-0.71;-0.71	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.73598	0.3607	N	0.14661	0.345	0.52099	D	0.999942	P;B;B;P;B;D	0.56035	0.488;0.213;0.378;0.61;0.037;0.974	B;B;B;B;B;D	0.70487	0.108;0.073;0.073;0.197;0.01;0.969	T	0.72272	-0.4342	10	0.29301	T	0.29	.	19.9662	0.97271	0.0:0.0:1.0:0.0	.	1548;1522;1562;1536;1562;1516	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	D	1562;1516;1562;1562	ENSP00000263934:E1516D;ENSP00000366290:E1562D;ENSP00000366284:E1562D	ENSP00000263934:E1516D	E	+	3	2	KIF1B	10348227	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	4.031000	0.57267	2.701000	0.92244	0.650000	0.86243	GAG	KIF1B	-	NULL	ENSG00000054523		0.542	KIF1B-001	NOVEL	basic	protein_coding	KIF1B	HGNC	protein_coding	OTTHUMT00000005102.1	81	0.00	0	G			10425640	10425640	+1	no_errors	ENST00000263934	ensembl	human	known	69_37n	missense	59	22.37	17	SNP	1.000	C
KIF1C	10749	genome.wustl.edu	37	17	4903598	4903598	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:4903598G>A	ENST00000320785.5	+	3	414	c.57G>A	c.(55-57)gaG>gaA	p.E19E	INCA1_ENST00000355025.3_5'Flank|INCA1_ENST00000575780.1_5'Flank|INCA1_ENST00000396829.2_5'Flank	NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	19	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						ACGCCCGTGAGACCAGCCAGG	0.642																																					Melanoma(96;1023 1447 10250 19259 33730)	dbGAP											0													70.0	54.0	60.0					17																	4903598		2200	4296	6496	-	-	-	SO:0001819	synonymous_variant	0			U91329	CCDS11065.1	17p13.2	2014-03-03			ENSG00000129250	ENSG00000129250		"""Kinesins"""	6317	protein-coding gene	gene with protein product		603060	"""spastic ataxia 2 (autosomal recessive)"""	SAX2		9685376, 24319291, 24482476	Standard	NM_006612		Approved	SPAX2, SPG58	uc002gan.2	O43896	OTTHUMG00000099451	ENST00000320785.5:c.57G>A	17.37:g.4903598G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTL6|O75186|Q5U618	Silent	SNP	pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E19	ENST00000320785.5	37	c.57	CCDS11065.1	17																																																																																			KIF1C	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000129250		0.642	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF1C	HGNC	protein_coding	OTTHUMT00000216916.1	62	0.00	0	G			4903598	4903598	+1	no_errors	ENST00000320785	ensembl	human	known	69_37n	silent	49	20.97	13	SNP	1.000	A
KIF1C	10749	genome.wustl.edu	37	17	4905812	4905812	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:4905812G>C	ENST00000320785.5	+	7	840	c.483G>C	c.(481-483)aaG>aaC	p.K161N		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	161	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						TGAACCCCAAGAGTCGGGGTT	0.537																																					Melanoma(96;1023 1447 10250 19259 33730)	dbGAP											0													142.0	149.0	146.0					17																	4905812		2203	4300	6503	-	-	-	SO:0001583	missense	0			U91329	CCDS11065.1	17p13.2	2014-03-03			ENSG00000129250	ENSG00000129250		"""Kinesins"""	6317	protein-coding gene	gene with protein product		603060	"""spastic ataxia 2 (autosomal recessive)"""	SAX2		9685376, 24319291, 24482476	Standard	NM_006612		Approved	SPAX2, SPG58	uc002gan.2	O43896	OTTHUMG00000099451	ENST00000320785.5:c.483G>C	17.37:g.4905812G>C	ENSP00000320821:p.Lys161Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTL6|O75186|Q5U618	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.K161N	ENST00000320785.5	37	c.483	CCDS11065.1	17	.	.	.	.	.	.	.	.	.	.	G	16.71	3.197628	0.58126	.	.	ENSG00000129250	ENST00000320785	D	0.88277	-2.36	5.43	4.46	0.54185	Kinesin, motor domain (4);	.	.	.	.	D	0.89891	0.6846	L	0.27053	0.805	0.52099	D	0.999948	D	0.71674	0.998	D	0.77557	0.99	D	0.90609	0.4550	9	0.62326	D	0.03	.	12.5861	0.56419	0.0815:0.0:0.9185:0.0	.	161	O43896	KIF1C_HUMAN	N	161	ENSP00000320821:K161N	ENSP00000320821:K161N	K	+	3	2	KIF1C	4846536	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.728000	0.47319	1.456000	0.47831	-0.224000	0.12420	AAG	KIF1C	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000129250		0.537	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF1C	HGNC	protein_coding	OTTHUMT00000216916.1	53	0.00	0	G			4905812	4905812	+1	no_errors	ENST00000320785	ensembl	human	known	69_37n	missense	42	40.54	30	SNP	1.000	C
KIF20A	10112	genome.wustl.edu	37	5	137518127	137518127	+	Nonsense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:137518127C>G	ENST00000394894.3	+	5	717	c.491C>G	c.(490-492)tCa>tGa	p.S164*	KIF20A_ENST00000508792.1_Nonsense_Mutation_p.S146*	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	164	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule bundle formation (GO:0001578)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)|transporter activity (GO:0005215)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GTCACTAACTCAGGGAAAACC	0.453																																						dbGAP											0													84.0	78.0	80.0					5																	137518127		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF070672	CCDS4199.1	5q31	2008-02-05	2003-01-13	2003-01-17	ENSG00000112984	ENSG00000112984		"""Kinesins"""	9787	protein-coding gene	gene with protein product		605664	"""RAB6 interacting, kinesin-like (rabkinesin6)"""	RAB6KIFL		11416179, 10806357	Standard	NM_005733		Approved		uc003lcj.3	O95235	OTTHUMG00000129195	ENST00000394894.3:c.491C>G	5.37:g.137518127C>G	ENSP00000378356:p.Ser164*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DL79|D3DQB6	Nonsense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S164*	ENST00000394894.3	37	c.491	CCDS4199.1	5	.	.	.	.	.	.	.	.	.	.	C	23.2	4.392826	0.83011	.	.	ENSG00000112984	ENST00000394894;ENST00000508792;ENST00000504621	.	.	.	5.23	5.23	0.72850	.	0.000000	0.37219	N	0.002192	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.3669	19.0108	0.92872	0.0:1.0:0.0:0.0	.	.	.	.	X	164;146;164	.	.	S	+	2	0	KIF20A	137546026	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.320000	0.79064	2.713000	0.92767	0.655000	0.94253	TCA	KIF20A	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	ENSG00000112984		0.453	KIF20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF20A	HGNC	protein_coding	OTTHUMT00000251272.1	51	0.00	0	C	NM_005733		137518127	137518127	+1	no_errors	ENST00000394894	ensembl	human	known	69_37n	nonsense	52	21.21	14	SNP	1.000	G
KIF20B	9585	genome.wustl.edu	37	10	91528502	91528502	+	Missense_Mutation	SNP	T	T	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:91528502T>A	ENST00000371728.3	+	31	5164	c.5099T>A	c.(5098-5100)aTa>aAa	p.I1700K	KIF20B_ENST00000416354.1_Missense_Mutation_p.I1730K|KIF20B_ENST00000260753.4_Missense_Mutation_p.I1660K|KIF20B_ENST00000478929.1_3'UTR	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1700	Interaction with PIN1.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						TAGGTTGCCATACGTCCATCA	0.363																																						dbGAP											0													80.0	76.0	77.0					10																	91528502		2203	4300	6503	-	-	-	SO:0001583	missense	0			L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.5099T>A	10.37:g.91528502T>A	ENSP00000360793:p.Ile1700Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.I1730K	ENST00000371728.3	37	c.5189		10	.	.	.	.	.	.	.	.	.	.	T	6.698	0.497512	0.12762	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000371728	T;T;T	0.66995	-0.24;-0.23;-0.24	5.7	-2.23	0.06930	.	1.270120	0.05485	N	0.555577	T	0.51686	0.1689	L	0.29908	0.895	0.09310	N	1	B;B	0.17667	0.023;0.016	B;B	0.16289	0.01;0.015	T	0.45279	-0.9272	10	0.66056	D	0.02	4.064	6.0088	0.19562	0.0:0.3783:0.13:0.4917	.	1700;1660	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	K	1660;1730;1700	ENSP00000260753:I1660K;ENSP00000411545:I1730K;ENSP00000360793:I1700K	ENSP00000260753:I1660K	I	+	2	0	KIF20B	91518482	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.014000	0.12656	-0.350000	0.08262	-0.239000	0.12128	ATA	KIF20B	-	NULL	ENSG00000138182		0.363	KIF20B-003	KNOWN	basic	protein_coding	KIF20B	HGNC	protein_coding	OTTHUMT00000049330.1	97	0.00	0	T	NM_016195		91528502	91528502	+1	no_errors	ENST00000416354	ensembl	human	known	69_37n	missense	42	20.75	11	SNP	0.007	A
KIF21A	55605	genome.wustl.edu	37	12	39711890	39711890	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:39711890G>A	ENST00000361418.5	-	29	3908	c.3893C>T	c.(3892-3894)tCa>tTa	p.S1298L	KIF21A_ENST00000395670.3_Missense_Mutation_p.S1298L|KIF21A_ENST00000544797.2_Missense_Mutation_p.S1278L|KIF21A_ENST00000541463.2_Missense_Mutation_p.S1262L|KIF21A_ENST00000361961.3_Missense_Mutation_p.S1285L|KIF21A_ENST00000547745.1_Intron			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1298					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.S1285L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CTGCTGAACTGATGTGTTTCC	0.398																																						dbGAP											1	Substitution - Missense(1)	urinary_tract(1)											83.0	88.0	86.0					12																	39711890		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.3893C>T	12.37:g.39711890G>A	ENSP00000354878:p.Ser1298Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S1298L	ENST00000361418.5	37	c.3893	CCDS53776.1	12	.	.	.	.	.	.	.	.	.	.	G	16.60	3.168861	0.57584	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000544797;ENST00000361418;ENST00000541463	T;T;T;T;T	0.70631	-0.5;-0.49;-0.43;-0.42;-0.39	5.83	4.94	0.65067	.	0.338911	0.21433	N	0.074604	T	0.66655	0.2811	L	0.58101	1.795	0.37499	D	0.916695	B;B;B;B	0.26512	0.0;0.0;0.151;0.13	B;B;B;B	0.25405	0.0;0.001;0.06;0.047	T	0.65569	-0.6136	10	0.22706	T	0.39	.	14.9922	0.71396	0.0684:0.0:0.9316:0.0	.	1278;1262;1298;1285	F5H219;F5H0C3;Q7Z4S6;Q7Z4S6-2	.;.;KI21A_HUMAN;.	L	1285;1298;1278;1298;1262	ENSP00000354851:S1285L;ENSP00000379029:S1298L;ENSP00000445606:S1278L;ENSP00000354878:S1298L;ENSP00000438075:S1262L	ENSP00000354878:S1298L	S	-	2	0	KIF21A	37998157	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	4.974000	0.63771	1.482000	0.48325	0.585000	0.79938	TCA	KIF21A	-	NULL	ENSG00000139116		0.398	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF21A	HGNC	protein_coding	OTTHUMT00000403581.1	104	0.00	0	G	NM_017641		39711890	39711890	-1	no_errors	ENST00000395670	ensembl	human	known	69_37n	missense	69	28.12	27	SNP	1.000	A
KIF24	347240	genome.wustl.edu	37	9	34257466	34257466	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:34257466C>G	ENST00000402558.2	-	10	2163	c.2139G>C	c.(2137-2139)caG>caC	p.Q713H	KIF24_ENST00000379166.2_Missense_Mutation_p.Q713H|KIF24_ENST00000379174.3_Missense_Mutation_p.Q579H|KIF24_ENST00000345050.2_Missense_Mutation_p.Q579H			Q5T7B8	KIF24_HUMAN	kinesin family member 24	713					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			CAAGCTGCTTCTGTACTGGCT	0.592																																						dbGAP											0													212.0	207.0	208.0					9																	34257466		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"""Kinesins"", ""Sterile alpha motif (SAM) domain containing"""	19916	protein-coding gene	gene with protein product		613747	"""chromosome 9 open reading frame 48"""	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.2139G>C	9.37:g.34257466C>G	ENSP00000384433:p.Gln713His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_SAM_type1,superfamily_SAM/pointed,smart_Kinesin_motor_dom,pfscan_SAM,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.Q713H	ENST00000402558.2	37	c.2139	CCDS6551.2	9	.	.	.	.	.	.	.	.	.	.	C	17.72	3.459150	0.63401	.	.	ENSG00000186638	ENST00000402558;ENST00000379174;ENST00000379166;ENST00000345050;ENST00000420188	T;D;T;D	0.83506	-1.36;-1.73;-1.36;-1.73	5.36	3.48	0.39840	.	0.000000	0.41823	D	0.000810	D	0.89670	0.6782	M	0.80183	2.485	0.39990	D	0.975035	D	0.89917	1.0	D	0.85130	0.997	D	0.90234	0.4281	10	0.87932	D	0	.	9.2938	0.37802	0.0:0.7803:0.0:0.2197	.	713	Q5T7B8	KIF24_HUMAN	H	713;579;713;579;713	ENSP00000384433:Q713H;ENSP00000368472:Q579H;ENSP00000368464:Q713H;ENSP00000340179:Q579H	ENSP00000340179:Q579H	Q	-	3	2	KIF24	34247466	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	0.908000	0.28545	1.391000	0.46566	0.655000	0.94253	CAG	KIF24	-	NULL	ENSG00000186638		0.592	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF24	HGNC	protein_coding	OTTHUMT00000052150.5	67	0.00	0	C			34257466	34257466	-1	no_errors	ENST00000379166	ensembl	human	known	69_37n	missense	83	16.16	16	SNP	1.000	G
KIF2B	84643	genome.wustl.edu	37	17	51901855	51901855	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:51901855G>C	ENST00000268919.4	+	1	1617	c.1461G>C	c.(1459-1461)caG>caC	p.Q487H		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	487	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)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CTTTGGGTCAGAACAAGCCTC	0.512																																						dbGAP											0													49.0	46.0	47.0					17																	51901855		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.1461G>C	17.37:g.51901855G>C	ENSP00000268919:p.Gln487His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96MA2|Q9BXG6	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.Q487H	ENST00000268919.4	37	c.1461	CCDS32685.1	17	.	.	.	.	.	.	.	.	.	.	G	12.04	1.817225	0.32145	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.75821	-0.97	5.73	3.63	0.41609	Kinesin, motor domain (3);	0.403035	0.18688	N	0.133948	T	0.71685	0.3369	M	0.79475	2.455	0.25049	N	0.991148	B	0.21147	0.052	B	0.27608	0.081	T	0.63721	-0.6573	10	0.56958	D	0.05	.	5.9122	0.19035	0.0785:0.1365:0.6443:0.1408	.	487	Q8N4N8	KIF2B_HUMAN	H	487;375	ENSP00000268919:Q487H	ENSP00000268919:Q487H	Q	+	3	2	KIF2B	49256854	0.006000	0.16342	1.000000	0.80357	0.904000	0.53231	-0.310000	0.08135	2.854000	0.98071	0.655000	0.94253	CAG	KIF2B	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom	ENSG00000141200		0.512	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF2B	HGNC	protein_coding	OTTHUMT00000438854.1	46	0.00	0	G	NM_032559		51901855	51901855	+1	no_errors	ENST00000268919	ensembl	human	known	69_37n	missense	42	22.22	12	SNP	0.998	C
KIF4A	24137	genome.wustl.edu	37	X	69573523	69573523	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:69573523C>T	ENST00000374403.3	+	15	1622	c.1540C>T	c.(1540-1542)Cag>Tag	p.Q514*	KIF4A_ENST00000374388.3_Nonsense_Mutation_p.Q514*	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	514					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)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						TTTTACCACTCAGCATGCTCT	0.453																																						dbGAP											0													53.0	48.0	50.0					X																	69573523		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"""Kinesins"""	13339	protein-coding gene	gene with protein product	"""chromokinesin"""	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.1540C>T	X.37:g.69573523C>T	ENSP00000363524:p.Gln514*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Nonsense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.Q514*	ENST00000374403.3	37	c.1540	CCDS14401.1	X	.	.	.	.	.	.	.	.	.	.	C	39	7.371326	0.98241	.	.	ENSG00000090889	ENST00000374388;ENST00000374403	.	.	.	4.86	4.86	0.63082	.	0.000000	0.50627	D	0.000111	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	11.4731	0.50282	0.0:0.8224:0.1776:0.0	.	.	.	.	X	514	.	ENSP00000363509:Q514X	Q	+	1	0	KIF4A	69490248	0.997000	0.39634	1.000000	0.80357	0.979000	0.70002	2.750000	0.47500	2.213000	0.71641	0.544000	0.68410	CAG	KIF4A	-	NULL	ENSG00000090889		0.453	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF4A	HGNC	protein_coding	OTTHUMT00000057068.1	61	0.00	0	C	NM_012310		69573523	69573523	+1	no_errors	ENST00000374403	ensembl	human	known	69_37n	nonsense	44	22.81	13	SNP	1.000	T
KIF5C	3800	genome.wustl.edu	37	2	149851025	149851025	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:149851025G>A	ENST00000435030.1	+	17	2364	c.1996G>A	c.(1996-1998)Gaa>Aaa	p.E666K	KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Missense_Mutation_p.E571K|KIF5C_ENST00000397413.1_Missense_Mutation_p.E434K			O60282	KIF5C_HUMAN	kinesin family member 5C	666					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		CTCGCTCAGCGAAGAGCTGGC	0.507																																						dbGAP											0													31.0	34.0	33.0					2																	149851025		1932	4139	6071	-	-	-	SO:0001583	missense	0			AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"""Kinesins"""	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.1996G>A	2.37:g.149851025G>A	ENSP00000393379:p.Glu666Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O95079|Q2YDC5	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E666K	ENST00000435030.1	37	c.1996		2	.	.	.	.	.	.	.	.	.	.	G	33	5.252398	0.95336	.	.	ENSG00000168280	ENST00000435030;ENST00000414838;ENST00000334436;ENST00000397413	D;D;D	0.82984	-1.67;-1.67;-1.67	5.35	5.35	0.76521	.	0.122489	0.56097	D	0.000039	D	0.91164	0.7217	.	.	.	0.80722	D	1	D;D	0.89917	0.997;1.0	P;D	0.72338	0.887;0.977	D	0.90594	0.4539	8	.	.	.	.	19.2613	0.93968	0.0:0.0:1.0:0.0	.	666;232	O60282;Q3LIE3	KIF5C_HUMAN;.	K	666;571;569;434	ENSP00000393379:E666K;ENSP00000410115:E571K;ENSP00000380560:E434K	.	E	+	1	0	KIF5C	149559271	1.000000	0.71417	0.967000	0.41034	0.930000	0.56654	9.652000	0.98499	2.769000	0.95229	0.655000	0.94253	GAA	KIF5C	-	NULL	ENSG00000168280		0.507	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	KIF5C	HGNC	protein_coding	OTTHUMT00000332562.3	42	0.00	0	G	NM_004522		149851025	149851025	+1	no_errors	ENST00000435030	ensembl	human	known	69_37n	missense	41	26.79	15	SNP	1.000	A
KIF5C	3800	genome.wustl.edu	37	2	149857021	149857021	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:149857021G>A	ENST00000435030.1	+	20	2663	c.2295G>A	c.(2293-2295)atG>atA	p.M765I	KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Missense_Mutation_p.M670I|KIF5C_ENST00000397413.1_Missense_Mutation_p.M533I			O60282	KIF5C_HUMAN	kinesin family member 5C	765					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		AGAGAGAAATGAAGCTGGAAA	0.368																																						dbGAP											0													50.0	47.0	48.0					2																	149857021		1820	4088	5908	-	-	-	SO:0001583	missense	0			AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"""Kinesins"""	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.2295G>A	2.37:g.149857021G>A	ENSP00000393379:p.Met765Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	O95079|Q2YDC5	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.M765I	ENST00000435030.1	37	c.2295		2	.	.	.	.	.	.	.	.	.	.	G	11.72	1.724162	0.30593	.	.	ENSG00000168280	ENST00000435030;ENST00000414838;ENST00000334436;ENST00000397413	T;T;T	0.76186	-1.0;-1.0;-1.0	5.26	5.26	0.73747	.	0.290468	0.39341	N	0.001388	T	0.58949	0.2158	.	.	.	0.26930	N	0.966498	B;B	0.12013	0.002;0.005	B;B	0.04013	0.001;0.001	T	0.42275	-0.9461	8	.	.	.	.	12.0472	0.53487	0.0788:0.0:0.9212:0.0	.	765;73	O60282;Q59GB8	KIF5C_HUMAN;.	I	765;670;668;533	ENSP00000393379:M765I;ENSP00000410115:M670I;ENSP00000380560:M533I	.	M	+	3	0	KIF5C	149565267	0.810000	0.29049	1.000000	0.80357	0.993000	0.82548	1.300000	0.33436	2.746000	0.94184	0.655000	0.94253	ATG	KIF5C	-	NULL	ENSG00000168280		0.368	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	KIF5C	HGNC	protein_coding	OTTHUMT00000332562.3	77	0.00	0	G	NM_004522		149857021	149857021	+1	no_errors	ENST00000435030	ensembl	human	known	69_37n	missense	62	21.52	17	SNP	0.876	A
KIF7	374654	genome.wustl.edu	37	15	90177087	90177087	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:90177087C>T	ENST00000394412.3	-	12	2498	c.2422G>A	c.(2422-2424)Gag>Aag	p.E808K		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	808					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			ACCAGCCGCTCCGTAGCCTGC	0.642																																						dbGAP											0													56.0	53.0	54.0					15																	90177087		2200	4299	6499	-	-	-	SO:0001583	missense	0			AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"""Kinesins"""	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.2422G>A	15.37:g.90177087C>T	ENSP00000377934:p.Glu808Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3SXY0|Q6UXE9|Q8IW72	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E808K	ENST00000394412.3	37	c.2422	CCDS32325.2	15	.	.	.	.	.	.	.	.	.	.	C	16.36	3.102480	0.56183	.	.	ENSG00000166813	ENST00000394412	T	0.33438	1.41	5.18	5.18	0.71444	.	0.048814	0.85682	D	0.000000	T	0.40145	0.1105	L	0.33668	1.02	0.54753	D	0.999986	D;D	0.65815	0.995;0.988	D;P	0.63033	0.91;0.696	T	0.06625	-1.0816	10	0.07990	T	0.79	.	18.679	0.91540	0.0:1.0:0.0:0.0	.	294;808	B7ZKY4;Q2M1P5	.;KIF7_HUMAN	K	808	ENSP00000377934:E808K	ENSP00000377934:E808K	E	-	1	0	KIF7	87978091	1.000000	0.71417	0.930000	0.37139	0.835000	0.47333	7.501000	0.81600	2.413000	0.81919	0.491000	0.48974	GAG	KIF7	-	NULL	ENSG00000166813		0.642	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF7	HGNC	protein_coding	OTTHUMT00000347782.1	60	0.00	0	C	NM_198525		90177087	90177087	-1	no_errors	ENST00000394412	ensembl	human	known	69_37n	missense	44	16.98	9	SNP	1.000	T
KIN	22944	genome.wustl.edu	37	10	7825107	7825107	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:7825107G>C	ENST00000379562.4	-	2	193	c.146C>G	c.(145-147)tCt>tGt	p.S49C	KIN_ENST00000535925.1_Missense_Mutation_p.S49C|KIN_ENST00000543003.1_Intron	NM_012311.3	NP_036443.1			Kin17 DNA and RNA binding protein											endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						TCTCTGATGAGATTCGGACAT	0.318																																						dbGAP											0													60.0	59.0	59.0					10																	7825107		2203	4296	6499	-	-	-	SO:0001583	missense	0			AJ005273	CCDS7080.1	10p15-p14	2014-07-15	2014-07-15		ENSG00000151657	ENSG00000151657			6327	protein-coding gene	gene with protein product		601720	"""antigenic determinant of recA protein (mouse) homolog"", ""KIN, antigenic determinant of recA protein homolog (mouse)"""			1923796, 24140279	Standard	NM_012311		Approved	KIN17, Rts2	uc001ijt.3	O60870	OTTHUMG00000017634	ENST00000379562.4:c.146C>G	10.37:g.7825107G>C	ENSP00000368881:p.Ser49Cys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_DNA/RNA-bd_Kin17_cons_domain	p.S49C	ENST00000379562.4	37	c.146	CCDS7080.1	10	.	.	.	.	.	.	.	.	.	.	G	27.7	4.853997	0.91355	.	.	ENSG00000151657	ENST00000535925;ENST00000379562	.	.	.	6.06	6.06	0.98353	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.82235	0.4993	M	0.90082	3.085	0.80722	D	1	D;D	0.63046	0.992;0.992	P;P	0.52710	0.707;0.707	D	0.85298	0.1071	9	0.87932	D	0	-18.1873	20.2501	0.98402	0.0:0.0:1.0:0.0	.	49;49	B4DX32;O60870	.;KIN17_HUMAN	C	49	.	ENSP00000368881:S49C	S	-	2	0	KIN	7865113	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.704000	0.98716	2.880000	0.98712	0.650000	0.86243	TCT	KIN	-	NULL	ENSG00000151657		0.318	KIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIN	HGNC	protein_coding	OTTHUMT00000046683.2	75	0.00	0	G	NM_012311		7825107	7825107	-1	no_errors	ENST00000379562	ensembl	human	known	69_37n	missense	47	22.95	14	SNP	1.000	C
KIR3DL1	3811	genome.wustl.edu	37	19	55284901	55284901	+	Intron	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:55284901G>C	ENST00000538269.1	+	2	61				CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL3_ENST00000434419.2_Intron|KIR2DL1_ENST00000336077.6_Missense_Mutation_p.E63Q|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.E63Q			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		TCTGCACAGAGAGGGGATGTT	0.532																																						dbGAP											0													100.0	85.0	90.0					19																	55284901		2170	4178	6348	-	-	-	SO:0001627	intron_variant	0			L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.35-44088G>C	19.37:g.55284901G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O43473|Q14946|Q16541	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub	p.E63Q	ENST00000538269.1	37	c.187		19	.	.	.	.	.	.	.	.	.	.	G	11.80	1.747930	0.30955	.	.	ENSG00000125498	ENST00000336077;ENST00000291633	T;T	0.00848	5.62;5.62	1.24	0.151	0.14888	.	.	.	.	.	T	0.06690	0.0171	H	0.97516	4.02	0.09310	N	1	P;P	0.51791	0.925;0.948	P;D	0.62955	0.728;0.909	T	0.13124	-1.0521	9	0.87932	D	0	.	3.2536	0.06823	0.2988:0.0:0.7012:0.0	.	63;63	Q6IST4;Q6H2H3	.;.	Q	63	ENSP00000336769:E63Q;ENSP00000291633:E63Q	ENSP00000291633:E63Q	E	+	1	0	KIR2DL1	59976713	0.001000	0.12720	0.007000	0.13788	0.021000	0.10359	-0.016000	0.12613	0.098000	0.17522	0.398000	0.26397	GAG	KIR2DL1	-	pfam_Immunoglobulin,smart_Ig_sub	ENSG00000125498		0.532	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	KIR2DL1	HGNC	protein_coding		182	0.00	0	G	NM_013289		55284901	55284901	+1	no_errors	ENST00000336077	ensembl	human	known	69_37n	missense	88	60.71	136	SNP	0.008	C
KIR3DL1	3811	genome.wustl.edu	37	19	55331322	55331322	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:55331322G>T	ENST00000391728.4	+	4	543	c.510G>T	c.(508-510)caG>caT	p.Q170H	KIR3DL1_ENST00000538269.1_Missense_Mutation_p.Q170H|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.Q170H|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.Q170H|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.Q75H|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.Q170H	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	170	Ig-like C2-type 2.				immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		TCGTTGGACAGATCCATGATG	0.517																																						dbGAP											0													186.0	172.0	177.0					19																	55331322		2188	4191	6379	-	-	-	SO:0001583	missense	0			L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.510G>T	19.37:g.55331322G>T	ENSP00000375608:p.Gln170His	Somatic		WXS	Illumina GAIIx	Phase_IV	O43473|Q14946|Q16541	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub	p.Q170H	ENST00000391728.4	37	c.510	CCDS42621.1	19	.	.	.	.	.	.	.	.	.	.	-	5.867	0.344113	0.11126	.	.	ENSG00000167633	ENST00000402254;ENST00000538269;ENST00000541392;ENST00000355608;ENST00000391728;ENST00000326542;ENST00000358178	T;T;T;T;T;T	0.03065	4.06;4.06;4.06;4.06;4.06;4.06	1.44	-2.82	0.05787	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.07593	0.0191	M	0.74546	2.27	0.09310	N	1	P;B;P;B	0.39250	0.665;0.018;0.468;0.088	P;B;B;B	0.48334	0.574;0.06;0.368;0.08	T	0.22800	-1.0206	9	0.87932	D	0	.	1.9401	0.03345	0.4071:0.0:0.3273:0.2656	.	170;75;170;170	Q15702;Q14946;F6QF33;P43629	.;.;.;KI3L1_HUMAN	H	170;170;170;148;170;170;75	ENSP00000384528:Q170H;ENSP00000443350:Q170H;ENSP00000442355:Q170H;ENSP00000375608:Q170H;ENSP00000326868:Q170H;ENSP00000350901:Q75H	ENSP00000326868:Q170H	Q	+	3	2	KIR3DL1	60023134	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.084000	0.11268	-0.735000	0.04837	0.184000	0.17185	CAG	KIR3DL1	-	smart_Ig_sub	ENSG00000167633		0.517	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIR3DL1	HGNC	protein_coding	OTTHUMT00000141238.1	290	0.00	0	G	NM_013289		55331322	55331322	+1	no_errors	ENST00000402254	ensembl	human	known	69_37n	missense	217	20.80	57	SNP	0.000	T
KIR3DL1	3811	genome.wustl.edu	37	19	55351126	55351126	+	Intron	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:55351126G>C	ENST00000402254.2	+	6	1033				KIR2DS4_ENST00000339924.8_RNA			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		GGTCAAACTCGAGTGATCCAC	0.552																																						dbGAP											0													242.0	214.0	224.0					19																	55351126		2171	4167	6338	-	-	-	SO:0001627	intron_variant	0			L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000402254.2:c.1000+14593G>C	19.37:g.55351126G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O43473|Q14946|Q16541	Missense_Mutation	SNP	NULL	p.R205P	ENST00000402254.2	37	c.614		19																																																																																			KIR2DS4	-	NULL	ENSG00000221957		0.552	KIR3DL1-201	KNOWN	basic|appris_candidate_longest	protein_coding	KIR2DS4	HGNC	protein_coding		182	0.00	0	G	NM_013289		55351126	55351126	+1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000339924	ensembl	human	known	69_37n	missense	182	24.48	59	SNP	0.018	C
KITLG	4254	genome.wustl.edu	37	12	88899002	88899002	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:88899002C>G	ENST00000228280.5	-	9	975	c.793G>C	c.(793-795)Gag>Cag	p.E265Q	KITLG_ENST00000347404.5_Missense_Mutation_p.E237Q|KITLG_ENST00000378535.4_5'UTR|KITLG_ENST00000357116.4_Missense_Mutation_p.E48Q	NM_000899.4	NP_000890.1	P21583	SCF_HUMAN	KIT ligand	265					cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|negative regulation of mast cell apoptotic process (GO:0033026)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of myeloid leukocyte differentiation (GO:0002763)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Ras protein signal transduction (GO:0046579)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	stem cell factor receptor binding (GO:0005173)			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						CTCTCTTTCTCTTGCAACATA	0.343									Testicular Cancer, Familial Clustering of																													dbGAP											0													71.0	70.0	70.0					12																	88899002		2202	4299	6501	-	-	-	SO:0001583	missense	0	Familial Cancer Database		M59964	CCDS31867.1, CCDS31868.1	12q22	2010-11-23			ENSG00000049130	ENSG00000049130			6343	protein-coding gene	gene with protein product	"""mast cell growth factor"", ""stem cell factor"", ""steel factor"", ""familial progressive hyperpigmentation 2"""	184745		MGF		2208279, 1707188, 19375057	Standard	NM_003994		Approved	SCF, SF, Kitl, KL-1, FPH2	uc001tav.3	P21583	OTTHUMG00000169888	ENST00000228280.5:c.793G>C	12.37:g.88899002C>G	ENSP00000228280:p.Glu265Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV09|A8K2Q4|B7ZLM4|Q16487|Q68DZ2|Q7M4N8|Q9UQK7	Missense_Mutation	SNP	pfam_SCF,superfamily_4_helix_cytokine-like_core,pirsf_SCF	p.E265Q	ENST00000228280.5	37	c.793	CCDS31868.1	12	.	.	.	.	.	.	.	.	.	.	C	10.97	1.500421	0.26861	.	.	ENSG00000049130	ENST00000378535;ENST00000228280;ENST00000347404	T;T	0.61980	0.06;0.06	5.35	4.44	0.53790	.	0.161988	0.53938	N	0.000058	T	0.40815	0.1132	N	0.16743	0.435	0.25029	N	0.991283	B;B	0.21606	0.047;0.058	B;B	0.23018	0.025;0.043	T	0.21552	-1.0242	10	0.02654	T	1	-7.0962	12.259	0.54638	0.0:0.6571:0.3429:0.0	.	237;265	P21583-2;P21583	.;SCF_HUMAN	Q	230;265;237	ENSP00000228280:E265Q;ENSP00000054216:E237Q	ENSP00000228280:E265Q	E	-	1	0	KITLG	87423133	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.832000	0.39151	1.211000	0.43351	0.591000	0.81541	GAG	KITLG	-	pfam_SCF,pirsf_SCF	ENSG00000049130		0.343	KITLG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KITLG	HGNC	protein_coding	OTTHUMT00000406424.2	113	0.00	0	C	NM_003994		88899002	88899002	-1	no_errors	ENST00000228280	ensembl	human	known	69_37n	missense	58	37.63	35	SNP	1.000	G
KLB	152831	genome.wustl.edu	37	4	39436042	39436042	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:39436042G>A	ENST00000257408.4	+	2	1135	c.1038G>A	c.(1036-1038)aaG>aaA	p.K346K		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	346	Glycosyl hydrolase-1 1.				carbohydrate metabolic process (GO:0005975)|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)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						GGATGAGAAAGAAGTTGTTCT	0.448																																						dbGAP											0													135.0	130.0	132.0					4																	39436042		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.1038G>A	4.37:g.39436042G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M3K8	Silent	SNP	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.K346	ENST00000257408.4	37	c.1038	CCDS3451.1	4																																																																																			KLB	-	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF	ENSG00000134962		0.448	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLB	HGNC	protein_coding	OTTHUMT00000250429.1	81	0.00	0	G	NM_175737		39436042	39436042	+1	no_errors	ENST00000257408	ensembl	human	known	69_37n	silent	82	26.13	29	SNP	0.003	A
KLC2	64837	genome.wustl.edu	37	11	66033149	66033149	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:66033149G>A	ENST00000417856.1	+	12	1601	c.1358G>A	c.(1357-1359)cGc>cAc	p.R453H	KLC2_ENST00000394067.2_Missense_Mutation_p.R453H|RP11-867G23.1_ENST00000530805.1_RNA|KLC2_ENST00000394078.1_Intron|RAB1B_ENST00000311481.6_5'Flank|KLC2_ENST00000394065.2_Missense_Mutation_p.R314H|KLC2_ENST00000421552.1_Missense_Mutation_p.R376H|RP11-867G23.2_ENST00000533287.1_RNA|KLC2_ENST00000394066.2_Missense_Mutation_p.R376H|RAB1B_ENST00000527397.1_5'Flank|KLC2_ENST00000316924.5_Missense_Mutation_p.R453H	NM_001134775.1	NP_001128247.1	Q9H0B6	KLC2_HUMAN	kinesin light chain 2	453					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon cargo transport (GO:0008088)|blood coagulation (GO:0007596)|microtubule-based movement (GO:0007018)	ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinesin I complex (GO:0016938)|membrane (GO:0016020)|microtubule (GO:0005874)|neuron projection (GO:0043005)|protein complex (GO:0043234)	kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						ACCACCCTGCGCAGCTTGGGG	0.657																																						dbGAP											0													32.0	30.0	31.0					11																	66033149		2200	4293	6493	-	-	-	SO:0001583	missense	0			AK022449	CCDS8130.1, CCDS44653.1	11q13.1	2013-01-10			ENSG00000174996	ENSG00000174996		"""Tetratricopeptide (TTC) repeat domain containing"""	20716	protein-coding gene	gene with protein product		611729				9624122	Standard	NM_022822		Approved	FLJ12387	uc001ohb.2	Q9H0B6	OTTHUMG00000133757	ENST00000417856.1:c.1358G>A	11.37:g.66033149G>A	ENSP00000399403:p.Arg453His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MXL7|B2RDY4|Q9H9C8|Q9HA20	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.R453H	ENST00000417856.1	37	c.1358	CCDS8130.1	11	.	.	.	.	.	.	.	.	.	.	G	22.2	4.261939	0.80358	.	.	ENSG00000174996	ENST00000417856;ENST00000394067;ENST00000316924;ENST00000421552;ENST00000394066;ENST00000394065	T;T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03;-0.03	4.09	4.09	0.47781	Tetratricopeptide-like helical (1);	0.080522	0.49916	D	0.000135	T	0.71056	0.3295	L	0.59436	1.845	0.42153	D	0.991564	D;D;D	0.89917	1.0;0.995;0.977	D;P;P	0.67900	0.954;0.688;0.594	T	0.71580	-0.4550	10	0.46703	T	0.11	-17.1791	9.6793	0.40061	0.1019:0.0:0.8981:0.0	.	314;376;453	A8MZ87;A8MXL7;Q9H0B6	.;.;KLC2_HUMAN	H	453;453;453;376;376;314	ENSP00000399403:R453H;ENSP00000377631:R453H;ENSP00000314837:R453H;ENSP00000408484:R376H;ENSP00000377630:R376H;ENSP00000377629:R314H	ENSP00000314837:R453H	R	+	2	0	KLC2	65789725	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.926000	0.48892	2.129000	0.65627	0.491000	0.48974	CGC	KLC2	-	NULL	ENSG00000174996		0.657	KLC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KLC2	HGNC	protein_coding	OTTHUMT00000258200.1	15	0.00	0	G	NM_022822		66033149	66033149	+1	no_errors	ENST00000316924	ensembl	human	known	69_37n	missense	21	34.38	11	SNP	1.000	A
KLF10	7071	genome.wustl.edu	37	8	103664029	103664029	+	Silent	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:103664029G>T	ENST00000285407.6	-	3	831	c.531C>A	c.(529-531)atC>atA	p.I177I	KLF10_ENST00000395884.3_Silent_p.I166I	NM_005655.2	NP_005646.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10	177					bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular response to peptide (GO:1901653)|cellular response to starvation (GO:0009267)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoclast differentiation (GO:0045672)|regulation of circadian rhythm (GO:0042752)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			GATAGTTGAGGATGCTGGCTG	0.478											OREG0018913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(16;495 519 2144 16528 44005)	dbGAP											0													146.0	143.0	144.0					8																	103664029		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U21847	CCDS6294.1, CCDS47905.1	8q22.3	2014-09-17	2004-11-29	2004-12-01	ENSG00000155090	ENSG00000155090		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	11810	protein-coding gene	gene with protein product		601878	"""TGFB inducible early growth response"""	TIEG		8584037, 9721211	Standard	NM_001032282		Approved	EGRA, TIEG1	uc011lhk.1	Q13118	OTTHUMG00000164735	ENST00000285407.6:c.531C>A	8.37:g.103664029G>T		Somatic	1375	WXS	Illumina GAIIx	Phase_IV	A8MVH0|B2R794|L0R4P6|L0R679|O75411|Q503B2	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.I177	ENST00000285407.6	37	c.531	CCDS6294.1	8																																																																																			KLF10	-	NULL	ENSG00000155090		0.478	KLF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF10	HGNC	protein_coding	OTTHUMT00000379967.1	85	0.00	0	G			103664029	103664029	-1	no_errors	ENST00000285407	ensembl	human	known	69_37n	silent	83	21.70	23	SNP	0.132	T
KLF15	28999	genome.wustl.edu	37	3	126062715	126062715	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:126062715G>A	ENST00000296233.3	-	3	1336	c.1106C>T	c.(1105-1107)tCg>tTg	p.S369L		NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	369					cardiac muscle hypertrophy in response to stress (GO:0014898)|cellular response to peptide (GO:1901653)|glial cell differentiation (GO:0010001)|glomerular visceral epithelial cell differentiation (GO:0072112)|glucose transport (GO:0015758)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	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)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|lung(7)|ovary(2)|skin(2)	12				GBM - Glioblastoma multiforme(114;0.147)		CCTGTGCCGCGACAGCTCGTC	0.667																																						dbGAP											0													33.0	29.0	30.0					3																	126062715		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB029254	CCDS3036.1	3q21.3	2013-01-08			ENSG00000163884	ENSG00000163884		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	14536	protein-coding gene	gene with protein product	"""kidney-enriched Kruppel-like factor"""	606465				10982849	Standard	NM_014079		Approved	KKLF	uc011bkk.1	Q9UIH9	OTTHUMG00000162689	ENST00000296233.3:c.1106C>T	3.37:g.126062715G>A	ENSP00000296233:p.Ser369Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S369L	ENST00000296233.3	37	c.1106	CCDS3036.1	3	.	.	.	.	.	.	.	.	.	.	G	35	5.498113	0.96355	.	.	ENSG00000163884	ENST00000296233	T	0.20738	2.05	5.02	5.02	0.67125	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.28466	0.0704	N	0.11651	0.15	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.33292	-0.9874	10	0.87932	D	0	.	15.8427	0.78861	0.0:0.0:1.0:0.0	.	369	Q9UIH9	KLF15_HUMAN	L	369	ENSP00000296233:S369L	ENSP00000296233:S369L	S	-	2	0	KLF15	127545405	1.000000	0.71417	0.953000	0.39169	0.958000	0.62258	9.794000	0.99096	2.327000	0.79052	0.491000	0.48974	TCG	KLF15	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000163884		0.667	KLF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF15	HGNC	protein_coding	OTTHUMT00000370096.1	18	0.00	0	G	NM_014079		126062715	126062715	-1	no_errors	ENST00000296233	ensembl	human	known	69_37n	missense	19	24.00	6	SNP	1.000	A
KLF15	28999	genome.wustl.edu	37	3	126071245	126071245	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:126071245G>A	ENST00000296233.3	-	2	751	c.521C>T	c.(520-522)tCa>tTa	p.S174L	KLF15_ENST00000509675.1_5'Flank	NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	174					cardiac muscle hypertrophy in response to stress (GO:0014898)|cellular response to peptide (GO:1901653)|glial cell differentiation (GO:0010001)|glomerular visceral epithelial cell differentiation (GO:0072112)|glucose transport (GO:0015758)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	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)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|lung(7)|ovary(2)|skin(2)	12				GBM - Glioblastoma multiforme(114;0.147)		TGGCCCAGCTGAGAGCTGGCT	0.622																																						dbGAP											0													41.0	46.0	44.0					3																	126071245		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB029254	CCDS3036.1	3q21.3	2013-01-08			ENSG00000163884	ENSG00000163884		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	14536	protein-coding gene	gene with protein product	"""kidney-enriched Kruppel-like factor"""	606465				10982849	Standard	NM_014079		Approved	KKLF	uc011bkk.1	Q9UIH9	OTTHUMG00000162689	ENST00000296233.3:c.521C>T	3.37:g.126071245G>A	ENSP00000296233:p.Ser174Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S174L	ENST00000296233.3	37	c.521	CCDS3036.1	3	.	.	.	.	.	.	.	.	.	.	G	10.22	1.289056	0.23478	.	.	ENSG00000163884	ENST00000296233	T	0.08546	3.08	4.25	2.44	0.29823	.	0.478642	0.23868	N	0.043761	T	0.09335	0.0230	L	0.59436	1.845	0.09310	N	1	B	0.24186	0.099	B	0.27608	0.081	T	0.21449	-1.0245	10	0.46703	T	0.11	.	6.6755	0.23092	0.3123:0.0:0.6877:0.0	.	174	Q9UIH9	KLF15_HUMAN	L	174	ENSP00000296233:S174L	ENSP00000296233:S174L	S	-	2	0	KLF15	127553935	0.989000	0.36119	0.493000	0.27502	0.800000	0.45204	2.878000	0.48515	0.512000	0.28257	-0.339000	0.08088	TCA	KLF15	-	NULL	ENSG00000163884		0.622	KLF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF15	HGNC	protein_coding	OTTHUMT00000370096.1	39	0.00	0	G	NM_014079		126071245	126071245	-1	no_errors	ENST00000296233	ensembl	human	known	69_37n	missense	47	14.55	8	SNP	0.005	A
KLHDC7B	113730	genome.wustl.edu	37	22	50986767	50986767	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:50986767G>A	ENST00000395676.2	+	1	306	c.172G>A	c.(172-174)Gag>Aag	p.E58K	CTA-384D8.31_ENST00000434237.1_RNA	NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	58										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGGCCTGGTTGAGGCTGGAGG	0.627																																						dbGAP											0													39.0	49.0	46.0					22																	50986767		692	1591	2283	-	-	-	SO:0001583	missense	0			BC009980	CCDS14097.2	22q13.33	2006-11-29		2005-12-13	ENSG00000130487	ENSG00000130487			25145	protein-coding gene	gene with protein product							Standard	NM_138433		Approved	MGC16635	uc003bmi.3	Q96G42	OTTHUMG00000150250	ENST00000395676.2:c.172G>A	22.37:g.50986767G>A	ENSP00000379034:p.Glu58Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Kelch_1,smart_Kelch_1	p.E58K	ENST00000395676.2	37	c.172	CCDS14097.2	22	.	.	.	.	.	.	.	.	.	.	G	13.02	2.111443	0.37242	.	.	ENSG00000130487	ENST00000395676	D	0.83673	-1.75	3.61	1.33	0.21861	.	.	.	.	.	T	0.66694	0.2815	L	0.27053	0.805	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.48990	-0.8985	9	0.07325	T	0.83	.	6.6736	0.23082	0.2781:0.0:0.7219:0.0	.	58	Q96G42	KLD7B_HUMAN	K	58	ENSP00000379034:E58K	ENSP00000379034:E58K	E	+	1	0	KLHDC7B	49333633	0.000000	0.05858	0.001000	0.08648	0.104000	0.19210	0.096000	0.15147	0.724000	0.32296	0.485000	0.47835	GAG	KLHDC7B	-	NULL	ENSG00000130487		0.627	KLHDC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHDC7B	HGNC	protein_coding	OTTHUMT00000317089.2	18	0.00	0	G	NM_138433		50986767	50986767	+1	no_errors	ENST00000395676	ensembl	human	known	69_37n	missense	38	22.45	11	SNP	0.000	A
KLHDC9	126823	genome.wustl.edu	37	1	161069459	161069459	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:161069459G>A	ENST00000368011.4	+	3	901	c.759G>A	c.(757-759)caG>caA	p.Q253Q	KLHDC9_ENST00000490724.2_3'UTR|KLHDC9_ENST00000392192.2_Missense_Mutation_p.E260K|PFDN2_ENST00000468311.1_5'Flank	NM_152366.4	NP_689579.3	Q8NEP7	KLDC9_HUMAN	kelch domain containing 9	253										lung(5)|upper_aerodigestive_tract(1)	6	all_cancers(52;1.28e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			AGGGGTCCCAGAAGGGGCCCC	0.552																																						dbGAP											0													166.0	173.0	171.0					1																	161069459		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC022077	CCDS30919.1, CCDS41425.1	1q23.3	2008-02-05			ENSG00000162755	ENSG00000162755			28489	protein-coding gene	gene with protein product	"""kelch/ankyrin repeat containing cyclin A1 interacting protein"""					15159402	Standard	NM_152366		Approved	KARCA1	uc001fxr.3	Q8NEP7	OTTHUMG00000031479	ENST00000368011.4:c.759G>A	1.37:g.161069459G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5SY56|Q6NXT9|Q6PKN4|Q8N5E1|Q8NA16	Missense_Mutation	SNP	NULL	p.E260K	ENST00000368011.4	37	c.778	CCDS30919.1	1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.447542	0.26074	.	.	ENSG00000162755	ENST00000392192	T	0.54071	0.59	4.75	2.88	0.33553	.	.	.	.	.	T	0.16811	0.0404	.	.	.	0.09310	N	1	B	0.19817	0.039	B	0.19391	0.025	T	0.18871	-1.0323	8	0.36615	T	0.2	-41.0065	4.1959	0.10443	0.1898:0.0:0.6281:0.182	.	260	Q8NEP7-2	.	K	260	ENSP00000376030:E260K	ENSP00000376030:E260K	E	+	1	0	KLHDC9	159336083	0.599000	0.26891	0.484000	0.27391	0.975000	0.68041	0.843000	0.27640	0.619000	0.30197	0.561000	0.74099	GAA	KLHDC9	-	NULL	ENSG00000162755		0.552	KLHDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHDC9	HGNC	protein_coding	OTTHUMT00000077092.1	94	0.00	0	G	NM_152366		161069459	161069459	+1	no_errors	ENST00000392192	ensembl	human	known	69_37n	missense	94	25.40	32	SNP	0.032	A
KLHL1	57626	genome.wustl.edu	37	13	70456546	70456546	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr13:70456546C>T	ENST00000377844.4	-	5	1855	c.1096G>A	c.(1096-1098)Gat>Aat	p.D366N	KLHL1_ENST00000545028.1_Missense_Mutation_p.D173N	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	366					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		ACATTGACATCATCACTGGCC	0.418																																						dbGAP											0													143.0	120.0	128.0					13																	70456546		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.1096G>A	13.37:g.70456546C>T	ENSP00000367075:p.Asp366Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	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.D366N	ENST00000377844.4	37	c.1096	CCDS9445.1	13	.	.	.	.	.	.	.	.	.	.	C	21.2	4.119831	0.77323	.	.	ENSG00000150361	ENST00000377844;ENST00000545028	T;T	0.69806	-0.43;-0.43	5.08	5.08	0.68730	BTB/Kelch-associated (2);	0.000000	0.64402	D	0.000003	T	0.81118	0.4756	M	0.68317	2.08	0.58432	D	0.999994	D;D	0.89917	1.0;0.998	D;D	0.79108	0.992;0.991	T	0.82697	-0.0329	10	0.66056	D	0.02	.	18.8339	0.92153	0.0:1.0:0.0:0.0	.	366;366	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	N	366;173	ENSP00000367075:D366N;ENSP00000439602:D173N	ENSP00000367075:D366N	D	-	1	0	KLHL1	69354547	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.776000	0.85560	2.520000	0.84964	0.591000	0.81541	GAT	KLHL1	-	pfam_BACK,smart_BACK	ENSG00000150361		0.418	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL1	HGNC	protein_coding	OTTHUMT00000045231.3	74	0.00	0	C	NM_020866		70456546	70456546	-1	no_errors	ENST00000377844	ensembl	human	known	69_37n	missense	73	17.05	15	SNP	1.000	T
KLHL24	54800	genome.wustl.edu	37	3	183381421	183381421	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:183381421C>G	ENST00000454652.2	+	5	1482	c.1096C>G	c.(1096-1098)Ctt>Gtt	p.L366V	KLHL24_ENST00000242810.6_Missense_Mutation_p.L366V|KLHL24_ENST00000476808.1_Missense_Mutation_p.L366V	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24	366						cell projection (GO:0042995)|cytoplasm (GO:0005737)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			GAATGACATTCTTGTTTCAGG	0.348																																						dbGAP											0													81.0	78.0	79.0					3																	183381421		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3246.1	3q27.1	2013-02-22	2013-02-22		ENSG00000114796	ENSG00000114796		"""Kelch-like"", ""BTB/POZ domain containing"""	25947	protein-coding gene	gene with protein product		611295	"""kelch-like 24 (Drosophila)"""				Standard	XM_005247552		Approved	DRE1, FLJ20059	uc003flv.3	Q6TFL4	OTTHUMG00000156911	ENST00000454652.2:c.1096C>G	3.37:g.183381421C>G	ENSP00000395012:p.Leu366Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PLN8|Q9H620|Q9NXT9	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,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.L366V	ENST00000454652.2	37	c.1096	CCDS3246.1	3	.	.	.	.	.	.	.	.	.	.	C	12.00	1.805822	0.31961	.	.	ENSG00000114796	ENST00000242810;ENST00000454652;ENST00000476808	T;T;T	0.77877	-1.13;-1.13;-1.13	5.34	5.34	0.76211	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	T	0.66674	0.2813	N	0.11673	0.155	0.58432	D	0.999996	B;B	0.19583	0.037;0.024	B;B	0.28553	0.023;0.091	T	0.62473	-0.6847	10	0.45353	T	0.12	.	19.4149	0.94690	0.0:1.0:0.0:0.0	.	366;366	Q6TFL4-2;Q6TFL4	.;KLH24_HUMAN	V	366	ENSP00000242810:L366V;ENSP00000395012:L366V;ENSP00000419010:L366V	ENSP00000242810:L366V	L	+	1	0	KLHL24	184864115	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	2.177000	0.42509	2.675000	0.91044	0.462000	0.41574	CTT	KLHL24	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000114796		0.348	KLHL24-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KLHL24	HGNC	protein_coding	OTTHUMT00000346586.2	69	0.00	0	C	NM_017644		183381421	183381421	+1	no_errors	ENST00000242810	ensembl	human	known	69_37n	missense	93	19.83	23	SNP	1.000	G
KLHL29	114818	genome.wustl.edu	37	2	23862102	23862102	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:23862102G>T	ENST00000486442.1	+	4	1096	c.379G>T	c.(379-381)Gac>Tac	p.D127Y		NM_052920.1	NP_443152.1	Q96CT2	KLH29_HUMAN	kelch-like family member 29	127										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|lung(1)|ovary(3)	10						CACACCCTGGGACACTGATGA	0.597																																						dbGAP											0													108.0	101.0	103.0					2																	23862102		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS54335.1	2p23.3	2013-09-27	2013-02-22	2007-01-09	ENSG00000119771	ENSG00000119771		"""Kelch-like"", ""BTB/POZ domain containing"""	29404	protein-coding gene	gene with protein product			"""kelch repeat and BTB (POZ) domain containing 9"", ""kelch-like 29 (Drosophila)"""	KBTBD9		11572484	Standard	NM_052920		Approved	KIAA1921	uc010ykg.2	Q96CT2	OTTHUMG00000151899	ENST00000486442.1:c.379G>T	2.37:g.23862102G>T	ENSP00000420659:p.Asp127Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N388|Q96BF0|Q96PW7	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_Kelch_2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.D127Y	ENST00000486442.1	37	c.379	CCDS54335.1	2	.	.	.	.	.	.	.	.	.	.	G	25.5	4.648708	0.87958	.	.	ENSG00000119771	ENST00000486442	D	0.85013	-1.93	4.87	4.87	0.63330	.	.	.	.	.	D	0.88247	0.6385	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90136	0.4210	9	0.87932	D	0	.	18.4003	0.90514	0.0:0.0:1.0:0.0	.	154	Q6NT65	.	Y	127	ENSP00000420659:D127Y	ENSP00000420659:D127Y	D	+	1	0	KLHL29	23715607	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.230000	0.95299	2.431000	0.82371	0.455000	0.32223	GAC	KLHL29	-	NULL	ENSG00000119771		0.597	KLHL29-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	KLHL29	HGNC	protein_coding	OTTHUMT00000324315.3	49	0.00	0	G	NM_052920		23862102	23862102	+1	no_errors	ENST00000486442	ensembl	human	known	69_37n	missense	39	31.58	18	SNP	1.000	T
KLHL6	89857	genome.wustl.edu	37	3	183217570	183217570	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:183217570C>T	ENST00000341319.3	-	4	990	c.955G>A	c.(955-957)Gag>Aag	p.E319K		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	319					B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467)					breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			ATGAACACCTCAGACTGGAAC	0.567																																						dbGAP											0													78.0	64.0	69.0					3																	183217570		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578		"""Kelch-like"", ""BTB/POZ domain containing"""	18653	protein-coding gene	gene with protein product	"""kelch-like protein KLHL6"""	614214	"""kelch-like 6 (Drosophila)"""			11214971, 12617994	Standard	NM_130446		Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.955G>A	3.37:g.183217570C>T	ENSP00000341342:p.Glu319Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RB31|D3DNS8|Q8N5I1|Q8N892	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,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.E319K	ENST00000341319.3	37	c.955	CCDS3245.2	3	.	.	.	.	.	.	.	.	.	.	C	34	5.307172	0.95629	.	.	ENSG00000172578	ENST00000341319	T	0.67171	-0.25	5.13	5.13	0.70059	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.82250	0.4996	M	0.82823	2.61	0.80722	D	1	D	0.71674	0.998	D	0.72075	0.976	T	0.79313	-0.1855	10	0.20046	T	0.44	.	18.9602	0.92674	0.0:1.0:0.0:0.0	.	319	Q8WZ60	KLHL6_HUMAN	K	319	ENSP00000341342:E319K	ENSP00000341342:E319K	E	-	1	0	KLHL6	184700264	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.445000	0.80570	2.561000	0.86390	0.561000	0.74099	GAG	KLHL6	-	pirsf_Kelch-like_gigaxonin	ENSG00000172578		0.567	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL6	HGNC	protein_coding	OTTHUMT00000309024.1	45	0.00	0	C	NM_130446		183217570	183217570	-1	no_errors	ENST00000341319	ensembl	human	known	69_37n	missense	62	23.46	19	SNP	1.000	T
KLK1	3816	genome.wustl.edu	37	19	51323205	51323205	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:51323205C>G	ENST00000301420.2	-	4	618	c.583G>C	c.(583-585)Gac>Cac	p.D195H	KLK1_ENST00000448701.2_Missense_Mutation_p.D93H|CTD-2568A17.5_ENST00000326989.5_lincRNA	NM_002257.2	NP_002248.1	P06870	KLK1_HUMAN	kallikrein 1	195	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Aprotinin(DB06692)	AGCATGAAGTCTGTCACCTTC	0.557																																						dbGAP											0													102.0	81.0	88.0					19																	51323205		2203	4300	6503	-	-	-	SO:0001583	missense	0			L10038	CCDS12804.1	19q13.3	2008-02-05	2006-10-27			ENSG00000167748	3.4.21.35	"""Kallikreins"""	6357	protein-coding gene	gene with protein product		147910	"""kallikrein 1, renal/pancreas/salivary"""			1684954, 16800724, 16800723	Standard	NM_002257		Approved	Klk6	uc002ptk.1	P06870		ENST00000301420.2:c.583G>C	19.37:g.51323205C>G	ENSP00000301420:p.Asp195His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q66US9|Q86U61|Q8TCV8|Q9BS53|Q9NQU4|Q9UD19|Q9UMJ1	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.D195H	ENST00000301420.2	37	c.583	CCDS12804.1	19	.	.	.	.	.	.	.	.	.	.	c	16.33	3.093433	0.56075	.	.	ENSG00000167748	ENST00000301420;ENST00000448701	D;T	0.89875	-2.58;0.11	2.91	1.87	0.25490	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.90031	0.6887	L	0.59912	1.85	0.27372	N	0.955664	P	0.46952	0.887	P	0.57009	0.811	T	0.81269	-0.1009	9	0.87932	D	0	.	5.514	0.16896	0.0:0.8448:0.0:0.1552	.	195	P06870	KLK1_HUMAN	H	195;93	ENSP00000301420:D195H;ENSP00000400994:D93H	ENSP00000301420:D195H	D	-	1	0	KLK1	56015017	0.000000	0.05858	0.063000	0.19743	0.048000	0.14542	-0.047000	0.11963	0.790000	0.33803	0.306000	0.20318	GAC	KLK1	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000167748		0.557	KLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK1	HGNC	protein_coding	OTTHUMT00000464135.2	55	0.00	0	C	NM_002257		51323205	51323205	-1	no_errors	ENST00000301420	ensembl	human	known	69_37n	missense	61	14.08	10	SNP	0.885	G
KLK11	11012	genome.wustl.edu	37	19	51528000	51528000	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:51528000G>A	ENST00000594768.1	-	3	372	c.187C>T	c.(187-189)Cac>Tac	p.H63Y	KLK11_ENST00000600362.1_Intron|KLK11_ENST00000319720.7_Missense_Mutation_p.H31Y|KLK11_ENST00000453757.3_Missense_Mutation_p.H31Y|KLK11_ENST00000391804.3_Missense_Mutation_p.H31Y|KLK11_ENST00000594458.1_5'UTR	NM_144947.1	NP_659196.1	Q9UBX7	KLK11_HUMAN	kallikrein-related peptidase 11	63	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)		GGCTGGGAGTGAGGCTTGCAC	0.627																																						dbGAP											0													34.0	29.0	30.0					19																	51528000		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB012917	CCDS12818.1, CCDS12819.1, CCDS54297.1	19q13.33	2011-09-07	2006-10-27			ENSG00000167757		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6359	protein-coding gene	gene with protein product		604434	"""kallikrein 11"""	PRSS20		9765601, 10662548, 16800724, 16800723	Standard	NM_006853		Approved	TLSP	uc002pvb.2	Q9UBX7		ENST00000594768.1:c.187C>T	19.37:g.51528000G>A	ENSP00000473047:p.His63Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	O75837|Q0WXX5|Q8IXD7|Q9NS65	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.H63Y	ENST00000594768.1	37	c.187	CCDS12818.1	19	.	.	.	.	.	.	.	.	.	.	g	15.83	2.950019	0.53186	.	.	ENSG00000167757	ENST00000391804;ENST00000319720;ENST00000453757;ENST00000319756	D;D;D;T	0.93133	-3.17;-3.17;-3.17;1.51	4.21	4.21	0.49690	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.37761	U	0.001956	D	0.94115	0.8113	L	0.48218	1.51	0.27870	N	0.940068	D;D;D	0.89917	1.0;0.999;0.998	D;D;D	0.75020	0.985;0.985;0.982	D	0.88052	0.2788	10	0.51188	T	0.08	.	9.3511	0.38138	0.0:0.0:0.7865:0.2135	.	31;63;31	Q0WXX5;Q9UBX7;Q8IXD7	.;KLK11_HUMAN;.	Y	31;31;31;63	ENSP00000375680:H31Y;ENSP00000324269:H31Y;ENSP00000413958:H31Y;ENSP00000324414:H63Y	ENSP00000324269:H31Y	H	-	1	0	KLK11	56219812	0.067000	0.21026	0.835000	0.33067	0.834000	0.47266	0.649000	0.24843	2.165000	0.68154	0.455000	0.32223	CAC	KLK11	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000167757		0.627	KLK11-002	KNOWN	basic|CCDS	protein_coding	KLK11	HGNC	protein_coding	OTTHUMT00000464314.2	16	0.00	0	G	NM_006853		51528000	51528000	-1	no_errors	ENST00000319756	ensembl	human	known	69_37n	missense	14	22.22	4	SNP	0.901	A
KLK5	25818	genome.wustl.edu	37	19	51455866	51455866	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:51455866G>C	ENST00000336334.3	-	2	400	c.48C>G	c.(46-48)atC>atG	p.I16M	KLK5_ENST00000593428.1_Missense_Mutation_p.I16M|KLK5_ENST00000391809.2_Missense_Mutation_p.I16M|CTB-147C22.8_ENST00000601506.1_RNA|CTB-147C22.8_ENST00000594939.1_RNA	NM_012427.4	NP_036559	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	16					epidermis development (GO:0008544)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	epidermal lamellar body (GO:0097209)|extracellular space (GO:0005615)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		GCAAGGCTGTGATCAGAGCAC	0.622																																						dbGAP											0													85.0	71.0	76.0					19																	51455866		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF135028	CCDS12810.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167754		"""Kallikreins"""	6366	protein-coding gene	gene with protein product		605643	"""kallikrein 5"""			10514489, 10608802, 1680072, 4, 16800723, 17012259	Standard	NM_012427		Approved	SCTE, KLK-L2	uc002puf.3	Q9Y337		ENST00000336334.3:c.48C>G	19.37:g.51455866G>C	ENSP00000337733:p.Ile16Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53ZR3|Q9HBG8	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.I16M	ENST00000336334.3	37	c.48	CCDS12810.1	19	.	.	.	.	.	.	.	.	.	.	g	1.416	-0.574283	0.03882	.	.	ENSG00000167754	ENST00000336334;ENST00000391809	D;D	0.93133	-3.17;-3.17	4.2	1.89	0.25635	.	0.244313	0.21067	U	0.080739	D	0.86527	0.5954	L	0.32530	0.975	0.09310	N	1	B	0.18461	0.028	B	0.19391	0.025	T	0.76753	-0.2843	10	0.46703	T	0.11	.	5.1787	0.15148	0.1199:0.2306:0.6495:0.0	.	16	Q9Y337	KLK5_HUMAN	M	16	ENSP00000337733:I16M;ENSP00000375685:I16M	ENSP00000337733:I16M	I	-	3	3	KLK5	56147678	0.000000	0.05858	0.005000	0.12908	0.086000	0.17979	-0.222000	0.09190	0.972000	0.38314	0.655000	0.94253	ATC	KLK5	-	NULL	ENSG00000167754		0.622	KLK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK5	HGNC	protein_coding	OTTHUMT00000465057.1	38	0.00	0	G	NM_012427		51455866	51455866	-1	no_errors	ENST00000336334	ensembl	human	known	69_37n	missense	28	41.67	20	SNP	0.004	C
KLK8	11202	genome.wustl.edu	37	19	51503887	51503887	+	Intron	SNP	G	G	C	rs202165211		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:51503887G>C	ENST00000600767.1	-	4	560				KLK9_ENST00000376832.4_Intron|CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000347619.4_Intron|KLK8_ENST00000598195.1_5'Flank|KLK8_ENST00000391806.2_Missense_Mutation_p.S53W|KLK9_ENST00000250366.6_Intron|KLK8_ENST00000593490.1_Intron|KLK8_ENST00000291726.7_Intron|KLK8_ENST00000320838.5_Intron			O60259	KLK8_HUMAN	kallikrein-related peptidase 8						cell death (GO:0008219)|keratinocyte proliferation (GO:0043616)|memory (GO:0007613)|negative regulation of axon regeneration (GO:0048681)|negative regulation of myelination (GO:0031642)|neuron projection morphogenesis (GO:0048812)|regulation of synapse organization (GO:0050807)|response to wounding (GO:0009611)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		GGGGCAGTGCGAGGGCTGGGA	0.627																																						dbGAP											0													70.0	69.0	69.0					19																	51503887		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AB008390	CCDS12813.1, CCDS12814.1, CCDS12815.1, CCDS42600.1, CCDS74433.1	19q13	2011-09-07	2006-10-27			ENSG00000129455		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6369	protein-coding gene	gene with protein product		605644	"""kallikrein 8 (neuropsin/ovasin)"""	PRSS19		10102990, 9714609, 16800724, 16800723	Standard	NM_144505		Approved	HNP, TADG14, neuropsin, ovasin	uc002pur.1	O60259		ENST00000600767.1:c.71-48C>G	19.37:g.51503887G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5V9X1|Q5V9X2|Q8IW69|Q9HCB3|Q9NR68|Q9NR69|Q9UIL9|Q9UQ47	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.S53W	ENST00000600767.1	37	c.158	CCDS12813.1	19	.	.	.	.	.	.	.	.	.	.	G	10.65	1.410969	0.25465	.	.	ENSG00000129455	ENST00000391806	D	0.88975	-2.45	4.8	-8.7	0.00851	.	.	.	.	.	T	0.66848	0.2831	N	0.03608	-0.345	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.54629	-0.8265	9	0.52906	T	0.07	.	1.9733	0.03411	0.3048:0.1691:0.3707:0.1554	.	53	O60259-2	.	W	53	ENSP00000375682:S53W	ENSP00000375682:S53W	S	-	2	0	KLK8	56195699	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-1.050000	0.03510	-0.817000	0.04335	-0.942000	0.02676	TCG	KLK8	-	NULL	ENSG00000129455		0.627	KLK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK8	HGNC	protein_coding	OTTHUMT00000465032.2	24	0.00	0	G	NM_007196		51503887	51503887	-1	no_errors	ENST00000391806	ensembl	human	known	69_37n	missense	36	21.74	10	SNP	0.000	C
KLK11	11012	genome.wustl.edu	37	19	51528904	51528904	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:51528904G>A	ENST00000594768.1	-	2	265	c.80C>T	c.(79-81)tCc>tTc	p.S27F	KLK11_ENST00000600362.1_5'UTR|KLK11_ENST00000319720.7_5'UTR|KLK11_ENST00000453757.3_5'UTR|KLK11_ENST00000391804.3_5'UTR|KLK11_ENST00000594458.1_5'UTR	NM_144947.1	NP_659196.1	Q9UBX7	KLK11_HUMAN	kallikrein-related peptidase 11	27						extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)		GAGGGGGGAGGAGCGGGCCCC	0.627																																						dbGAP											0													16.0	16.0	16.0					19																	51528904		2201	4297	6498	-	-	-	SO:0001583	missense	0			AB012917	CCDS12818.1, CCDS12819.1, CCDS54297.1	19q13.33	2011-09-07	2006-10-27			ENSG00000167757		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6359	protein-coding gene	gene with protein product		604434	"""kallikrein 11"""	PRSS20		9765601, 10662548, 16800724, 16800723	Standard	NM_006853		Approved	TLSP	uc002pvb.2	Q9UBX7		ENST00000594768.1:c.80C>T	19.37:g.51528904G>A	ENSP00000473047:p.Ser27Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	O75837|Q0WXX5|Q8IXD7|Q9NS65	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.S27F	ENST00000594768.1	37	c.80	CCDS12818.1	19	.	.	.	.	.	.	.	.	.	.	g	12.19	1.863420	0.32884	.	.	ENSG00000167757	ENST00000319756	D	0.87966	-2.32	3.08	3.08	0.35506	.	.	.	.	.	T	0.71702	0.3371	N	0.08118	0	0.80722	D	1	P	0.34462	0.454	B	0.28638	0.092	T	0.75280	-0.3373	9	0.87932	D	0	.	9.9165	0.41436	0.0:0.0:1.0:0.0	.	27	Q9UBX7	KLK11_HUMAN	F	27	ENSP00000324414:S27F	ENSP00000324414:S27F	S	-	2	0	KLK11	56220716	0.650000	0.27331	0.889000	0.34880	0.845000	0.48019	0.497000	0.22514	2.040000	0.60383	0.655000	0.94253	TCC	KLK11	-	NULL	ENSG00000167757		0.627	KLK11-002	KNOWN	basic|CCDS	protein_coding	KLK11	HGNC	protein_coding	OTTHUMT00000464314.2	29	0.00	0	G	NM_006853		51528904	51528904	-1	no_errors	ENST00000319756	ensembl	human	known	69_37n	missense	12	33.33	6	SNP	0.888	A
KLKB1	3818	genome.wustl.edu	37	4	187159467	187159467	+	Silent	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:187159467G>T	ENST00000264690.6	+	6	733	c.546G>T	c.(544-546)ctG>ctT	p.L182L	KLKB1_ENST00000513864.1_Silent_p.L182L	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	182	Apple 2. {ECO:0000255|PROSITE- ProRule:PRU00315}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)|proteolysis (GO:0006508)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		TAAAGGTGCTGAGTAACGTGG	0.433																																						dbGAP											0													122.0	112.0	115.0					4																	187159467		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M13143	CCDS34120.1	4q35	2008-02-05			ENSG00000164344	ENSG00000164344		"""Kallikreins"""	6371	protein-coding gene	gene with protein product		229000		KLK3		9535413, 3521732	Standard	XM_005262987		Approved		uc003iyy.3	P03952	OTTHUMG00000150347	ENST00000264690.6:c.546G>T	4.37:g.187159467G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3	Nonstop_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_PAN-1_domain,pfam_Cyt_P450,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Cyt_P450,smart_Apple,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Peptidase_S1_S6,prints_Apple,prints_Peptidase_S1A,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I	p.*230L	ENST00000264690.6	37	c.689	CCDS34120.1	4	.	.	.	.	.	.	.	.	.	.	G	2.861	-0.236107	0.05944	.	.	ENSG00000164344	ENST00000511608	.	.	.	5.27	3.51	0.40186	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.8344	0.13456	0.1748:0.0:0.6148:0.2104	.	.	.	.	L	230	.	.	X	+	2	2	KLKB1	187396461	0.082000	0.21442	0.014000	0.15608	0.015000	0.08874	1.045000	0.30341	1.454000	0.47793	0.650000	0.86243	TGA	KLKB1	-	pfam_PAN-1_domain,smart_Apple,pfscan_Pan_app	ENSG00000164344		0.433	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLKB1	HGNC	protein_coding	OTTHUMT00000317732.1	80	0.00	0	G	NM_000892		187159467	187159467	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000511608	ensembl	human	putative	69_37n	nonstop	61	18.67	14	SNP	0.005	T
KLLN	100144748	genome.wustl.edu	37	10	89622060	89622060	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:89622060C>T	ENST00000445946.3	-	1	1134	c.185G>A	c.(184-186)cGa>cAa	p.R62Q	PTEN_ENST00000371953.3_5'Flank	NM_001126049.1	NP_001119521.1	B2CW77	KILIN_HUMAN	killin, p53-regulated DNA replication inhibitor	62					apoptotic process (GO:0006915)|cell cycle (GO:0007049)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)	1						TGACCTCCTTCGGAAAGTAGT	0.582																																						dbGAP											0													87.0	90.0	89.0					10																	89622060		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS44454.1	10q23	2011-02-18	2011-02-18		ENSG00000227268	ENSG00000227268			37212	protein-coding gene	gene with protein product		612105				18385383	Standard	NM_001126049		Approved	killin	uc009xti.3	B2CW77		ENST00000445946.3:c.185G>A	10.37:g.89622060C>T	ENSP00000392204:p.Arg62Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.R62Q	ENST00000445946.3	37	c.185	CCDS44454.1	10	.	.	.	.	.	.	.	.	.	.	C	16.25	3.069502	0.55539	.	.	ENSG00000227268	ENST00000445946	.	.	.	5.0	4.08	0.47627	.	.	.	.	.	T	0.19327	0.0464	N	0.08118	0	0.24248	N	0.995331	D	0.55800	0.973	P	0.47603	0.551	T	0.03060	-1.1077	7	.	.	.	.	8.6448	0.33998	0.0:0.8967:0.0:0.1033	.	62	B2CW77	KILIN_HUMAN	Q	62	.	.	R	-	2	0	KLLN	89612040	0.010000	0.17322	0.994000	0.49952	0.449000	0.32228	1.294000	0.33365	2.495000	0.84180	0.655000	0.94253	CGA	KLLN	-	NULL	ENSG00000227268		0.582	KLLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLLN	HGNC	protein_coding	OTTHUMT00000473179.1	63	0.00	0	C	NM_001126049		89622060	89622060	-1	no_errors	ENST00000445946	ensembl	human	known	69_37n	missense	32	49.21	31	SNP	0.995	T
KLRB1	3820	genome.wustl.edu	37	12	9747966	9747966	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:9747966C>T	ENST00000229402.3	-	6	628	c.582G>A	c.(580-582)caG>caA	p.Q194Q		NM_002258.2	NP_002249.1	Q12918	KLRB1_HUMAN	killer cell lectin-like receptor subfamily B, member 1	194	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.Q194Q(1)		endometrium(2)|large_intestine(6)|lung(4)	12						ACACAGATGTCTGTGAGATGG	0.368																																						dbGAP											1	Substitution - coding silent(1)	endometrium(1)											158.0	147.0	151.0					12																	9747966		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U11276	CCDS8601.1	12p13	2014-05-22			ENSG00000111796	ENSG00000111796		"""Killer cell lectin-like receptors"", ""CD molecules"", ""C-type lectin domain containing"""	6373	protein-coding gene	gene with protein product		602890		NKR		8077657	Standard	NM_002258		Approved	CD161, NKR-P1, NKR-P1A, hNKR-P1A, CLEC5B	uc010sgt.2	Q12918	OTTHUMG00000168581	ENST00000229402.3:c.582G>A	12.37:g.9747966C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q24K24	Silent	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.Q194	ENST00000229402.3	37	c.582	CCDS8601.1	12																																																																																			KLRB1	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000111796		0.368	KLRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLRB1	HGNC	protein_coding	OTTHUMT00000400280.1	161	0.62	1	C	NM_002258		9747966	9747966	-1	no_errors	ENST00000229402	ensembl	human	known	69_37n	silent	61	34.41	32	SNP	0.000	T
KMO	8564	genome.wustl.edu	37	1	241729866	241729866	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:241729866G>C	ENST00000366559.4	+	9	1074	c.763G>C	c.(763-765)Gat>Cat	p.D255H	KMO_ENST00000366557.4_Missense_Mutation_p.D255H|KMO_ENST00000366558.3_Missense_Mutation_p.D255H	NM_003679.4	NP_003670.2			kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)											NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			TGATGTGGTAGATTTCTTCCA	0.363																																						dbGAP											0													120.0	117.0	118.0					1																	241729866		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF056032	CCDS1618.1	1q42-q44	2010-11-23			ENSG00000117009	ENSG00000117009	1.14.13.9		6381	protein-coding gene	gene with protein product		603538				9237672	Standard	NM_003679		Approved		uc009xgp.3	O15229	OTTHUMG00000039635	ENST00000366559.4:c.763G>C	1.37:g.241729866G>C	ENSP00000355517:p.Asp255His	Somatic		WXS	Illumina GAIIx	Phase_IV		Splice_Site	SNP	-	NULL	ENST00000366559.4	37	c.NULL	CCDS1618.1	1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.399287	0.42512	.	.	ENSG00000117009	ENST00000366559;ENST00000366558;ENST00000366557	T;T;T	0.50001	0.76;0.77;0.78	5.92	1.5	0.22942	Monooxygenase, FAD-binding (1);	0.540332	0.22343	N	0.061308	T	0.54303	0.1850	M	0.71036	2.16	0.37187	D	0.903773	P;P;P	0.48016	0.904;0.841;0.883	P;P;P	0.52514	0.701;0.701;0.646	T	0.57619	-0.7780	10	0.51188	T	0.08	.	8.5312	0.33335	0.3708:0.0:0.6292:0.0	.	255;255;255	O15229;A8K693;O15229-2	KMO_HUMAN;.;.	H	255	ENSP00000355517:D255H;ENSP00000355516:D255H;ENSP00000355515:D255H	ENSP00000355515:D255H	D	+	1	0	KMO	239796489	0.806000	0.28996	0.964000	0.40570	0.863000	0.49368	0.906000	0.28517	0.012000	0.14892	0.650000	0.86243	GAT	KMO	-	-	ENSG00000117009		0.363	KMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMO	HGNC	protein_coding	OTTHUMT00000095612.1	109	0.00	0	G	NM_003679		241729866	241729866	+1	no_errors	ENST00000431245	ensembl	human	known	69_37n	splice_site	112	31.93	53	SNP	0.997	C
KPNA5	3841	genome.wustl.edu	37	6	117037438	117037438	+	Nonsense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:117037438C>G	ENST00000368564.1	+	8	861	c.713C>G	c.(712-714)tCa>tGa	p.S238*	KPNA5_ENST00000356348.1_Nonsense_Mutation_p.S238*			O15131	IMA6_HUMAN	karyopherin alpha 5 (importin alpha 6)	235	NLS binding site (major). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		TGGGCCCTCTCAAATTTATGT	0.313																																						dbGAP											0													60.0	62.0	61.0					6																	117037438		2203	4299	6502	-	-	-	SO:0001587	stop_gained	0			AF005361	CCDS5111.1	6q22.2	2013-02-14			ENSG00000196911	ENSG00000196911		"""Importins"", ""Armadillo repeat containing"""	6398	protein-coding gene	gene with protein product		604545				9395085	Standard	NM_002269		Approved	SRP6, IPOA6	uc003pxh.3	O15131	OTTHUMG00000015448	ENST00000368564.1:c.713C>G	6.37:g.117037438C>G	ENSP00000357552:p.Ser238*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAI5|Q86X23	Nonsense_Mutation	SNP	pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB	p.S238*	ENST00000368564.1	37	c.713	CCDS5111.1	6	.	.	.	.	.	.	.	.	.	.	C	37	6.546883	0.97654	.	.	ENSG00000196911	ENST00000368564;ENST00000356348	.	.	.	5.45	5.45	0.79879	.	0.000000	0.56097	D	0.000026	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.2538	0.93938	0.0:1.0:0.0:0.0	.	.	.	.	X	238	.	ENSP00000348704:S238X	S	+	2	0	KPNA5	117144131	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.133000	0.77259	2.548000	0.85928	0.650000	0.86243	TCA	KPNA5	-	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	ENSG00000196911		0.313	KPNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPNA5	HGNC	protein_coding	OTTHUMT00000041967.1	105	0.00	0	C	NM_002269		117037438	117037438	+1	no_errors	ENST00000356348	ensembl	human	known	69_37n	nonsense	64	18.99	15	SNP	1.000	G
KPNA7	402569	genome.wustl.edu	37	7	98785950	98785950	+	Silent	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:98785950G>T	ENST00000327442.6	-	6	912	c.873C>A	c.(871-873)ctC>ctA	p.L291L		NM_001145715.1	NP_001139187.1	A9QM74	IMA8_HUMAN	karyopherin alpha 7 (importin alpha 8)	291					cytokine-mediated signaling pathway (GO:0019221)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)			breast(3)|endometrium(2)|kidney(1)|prostate(1)|skin(1)	8						AGCTGGTCATGAGCACTACCA	0.572																																						dbGAP											0													87.0	71.0	76.0					7																	98785950		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0				CCDS47651.1	7q22.1	2013-02-14			ENSG00000185467	ENSG00000185467		"""Importins"", ""Armadillo repeat containing"""	21839	protein-coding gene	gene with protein product		614107					Standard	NM_001145715		Approved		uc010lft.2	A9QM74	OTTHUMG00000154412	ENST00000327442.6:c.873C>A	7.37:g.98785950G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D277	Silent	SNP	pfam_Armadillo,pfam_HEAT,pfam_Importin-a_IBB,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB	p.L291	ENST00000327442.6	37	c.873	CCDS47651.1	7																																																																																			KPNA7	-	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	ENSG00000185467		0.572	KPNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPNA7	HGNC	protein_coding	OTTHUMT00000335118.1	51	0.00	0	G	NM_001145715		98785950	98785950	-1	no_errors	ENST00000327442	ensembl	human	known	69_37n	silent	48	21.31	13	SNP	0.970	T
KRT13	3860	genome.wustl.edu	37	17	39659616	39659616	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:39659616G>A	ENST00000246635.3	-	3	704	c.658C>T	c.(658-660)Ctg>Ttg	p.L220L	KRT13_ENST00000587544.1_Silent_p.L220L|AC019349.5_ENST00000411759.1_RNA|KRT13_ENST00000336861.3_Silent_p.L220L|KRT13_ENST00000587118.1_5'Flank	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	220	Coil 1B.|Rod.				cellular response to retinoic acid (GO:0071300)|cytoskeleton organization (GO:0007010)|response to radiation (GO:0009314)|tongue morphogenesis (GO:0043587)	extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				GTCTTAGACAGAGTGAGCTCA	0.527																																						dbGAP											0													102.0	100.0	101.0					17																	39659616		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS11396.1, CCDS11397.1	17q21.2	2013-06-20			ENSG00000171401	ENSG00000171401		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6415	protein-coding gene	gene with protein product	"""keratin, type I cytoskeletal 13"", ""cytokeratin 13"""	148065				16831889	Standard	NM_153490		Approved	K13, CK13, MGC3781, MGC161462	uc002hwu.1	P13646	OTTHUMG00000133434	ENST00000246635.3:c.658C>T	17.37:g.39659616G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53G54|Q6AZK5|Q8N240	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.L220	ENST00000246635.3	37	c.658	CCDS11396.1	17																																																																																			KRT13	-	pfam_F,superfamily_Prefoldin,prints_Keratin_I	ENSG00000171401		0.527	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KRT13	HGNC	protein_coding	OTTHUMT00000257297.1	119	0.00	0	G	NM_153490		39659616	39659616	-1	no_errors	ENST00000246635	ensembl	human	known	69_37n	silent	54	41.94	39	SNP	0.994	A
KRT26	353288	genome.wustl.edu	37	17	38926132	38926132	+	Splice_Site	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:38926132C>G	ENST00000335552.4	-	5	892		c.e5-1			NM_181539.4	NP_853517.2			keratin 26											central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				GCGTTGCACTCTGAAGTGTAA	0.483																																						dbGAP											0													189.0	168.0	175.0					17																	38926132		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AJ564205	CCDS11374.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000186393	ENSG00000186393		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30840	protein-coding gene	gene with protein product			"""keratin 25B"""	KRT25B		16831889	Standard	NM_181539		Approved		uc002hvf.3	Q7Z3Y9	OTTHUMG00000133370	ENST00000335552.4:c.844-1G>C	17.37:g.38926132C>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Splice_Site	SNP	-	e5-1	ENST00000335552.4	37	c.844-1	CCDS11374.1	17	.	.	.	.	.	.	.	.	.	.	C	18.32	3.598732	0.66332	.	.	ENSG00000186393	ENST00000335552	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1786	0.93614	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KRT26	36179658	1.000000	0.71417	0.988000	0.46212	0.683000	0.39861	6.965000	0.76067	2.601000	0.87937	0.655000	0.94253	.	KRT26	-	-	ENSG00000186393		0.483	KRT26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT26	HGNC	protein_coding	OTTHUMT00000257215.1	186	0.00	0	C	NM_181539	Intron	38926132	38926132	-1	no_errors	ENST00000335552	ensembl	human	known	69_37n	splice_site	83	23.15	25	SNP	1.000	G
KRT23	25984	genome.wustl.edu	37	17	39086224	39086224	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:39086224C>G	ENST00000209718.3	-	4	1028	c.604G>C	c.(604-606)Gag>Cag	p.E202Q	KRT23_ENST00000436344.3_Missense_Mutation_p.E65Q|AC004231.2_ENST00000418393.1_RNA	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	202	Coil 1B.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				AGAATGAGCTCTTTCCTCATT	0.493																																						dbGAP											0													299.0	219.0	246.0					17																	39086224		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF102848	CCDS11380.1, CCDS62182.1	17q21.2	2013-01-16			ENSG00000108244	ENSG00000108244		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6438	protein-coding gene	gene with protein product		606194				11135429, 16831889	Standard	NM_015515		Approved	K23, DKFZP434G032, HAIK1, CK23, MGC26158	uc002hvm.1	Q9C075	OTTHUMG00000133376	ENST00000209718.3:c.604G>C	17.37:g.39086224C>G	ENSP00000209718:p.Glu202Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K084|B7Z7J2|I3L3Q6|Q9NUR6	Missense_Mutation	SNP	pfam_F,prints_Keratin_I	p.E202Q	ENST00000209718.3	37	c.604	CCDS11380.1	17	.	.	.	.	.	.	.	.	.	.	C	14.23	2.473207	0.43942	.	.	ENSG00000108244	ENST00000209718;ENST00000436344	D;D	0.92911	-3.13;-3.13	5.74	5.74	0.90152	Filament (1);	0.112473	0.39210	N	0.001431	D	0.97139	0.9065	M	0.91406	3.205	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97478	1.0045	10	0.87932	D	0	.	19.9303	0.97116	0.0:1.0:0.0:0.0	.	202	Q9C075	K1C23_HUMAN	Q	202;65	ENSP00000209718:E202Q;ENSP00000414056:E65Q	ENSP00000209718:E202Q	E	-	1	0	KRT23	36339750	1.000000	0.71417	1.000000	0.80357	0.515000	0.34225	7.815000	0.86186	2.714000	0.92807	0.460000	0.39030	GAG	KRT23	-	pfam_F	ENSG00000108244		0.493	KRT23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT23	HGNC	protein_coding	OTTHUMT00000257223.1	152	0.00	0	C			39086224	39086224	-1	no_errors	ENST00000209718	ensembl	human	known	69_37n	missense	77	33.04	38	SNP	1.000	G
KRT23	25984	genome.wustl.edu	37	17	39086344	39086344	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:39086344C>T	ENST00000209718.3	-	4	908	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K	KRT23_ENST00000436344.3_Missense_Mutation_p.E25K|AC004231.2_ENST00000418393.1_RNA	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	162	Coil 1B.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				TGTTCATTTTCATACCTTTGG	0.403																																						dbGAP											0													101.0	91.0	94.0					17																	39086344		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF102848	CCDS11380.1, CCDS62182.1	17q21.2	2013-01-16			ENSG00000108244	ENSG00000108244		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6438	protein-coding gene	gene with protein product		606194				11135429, 16831889	Standard	NM_015515		Approved	K23, DKFZP434G032, HAIK1, CK23, MGC26158	uc002hvm.1	Q9C075	OTTHUMG00000133376	ENST00000209718.3:c.484G>A	17.37:g.39086344C>T	ENSP00000209718:p.Glu162Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K084|B7Z7J2|I3L3Q6|Q9NUR6	Missense_Mutation	SNP	pfam_F,prints_Keratin_I	p.E162K	ENST00000209718.3	37	c.484	CCDS11380.1	17	.	.	.	.	.	.	.	.	.	.	C	17.75	3.467522	0.63625	.	.	ENSG00000108244	ENST00000209718;ENST00000436344	D;D	0.90004	-2.6;-2.6	5.74	5.74	0.90152	Filament (1);	0.110395	0.39834	N	0.001253	D	0.95089	0.8409	M	0.89478	3.035	0.80722	D	1	D	0.67145	0.996	P	0.61800	0.894	D	0.95233	0.8344	10	0.66056	D	0.02	.	19.9303	0.97116	0.0:1.0:0.0:0.0	.	162	Q9C075	K1C23_HUMAN	K	162;25	ENSP00000209718:E162K;ENSP00000414056:E25K	ENSP00000209718:E162K	E	-	1	0	KRT23	36339870	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.991000	0.76232	2.714000	0.92807	0.460000	0.39030	GAA	KRT23	-	pfam_F,prints_Keratin_I	ENSG00000108244		0.403	KRT23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT23	HGNC	protein_coding	OTTHUMT00000257223.1	108	0.00	0	C			39086344	39086344	-1	no_errors	ENST00000209718	ensembl	human	known	69_37n	missense	51	37.80	31	SNP	1.000	T
KRT19	3880	genome.wustl.edu	37	17	39680135	39680135	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:39680135C>T	ENST00000361566.3	-	6	1123	c.1063G>A	c.(1063-1065)Gat>Aat	p.D355N	KRT15_ENST00000393974.3_5'Flank|KRT15_ENST00000393976.2_5'Flank|KRT15_ENST00000254043.3_5'Flank	NM_002276.4	NP_002267.2	P08727	K1C19_HUMAN	keratin 19	355	Coil 2.|Necessary for interaction with PNN.|Rod.				cell differentiation involved in embryonic placenta development (GO:0060706)|response to estrogen (GO:0043627)|sarcomere organization (GO:0045214)|viral process (GO:0016032)	cell periphery (GO:0071944)|costamere (GO:0043034)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				CGCTCACTATCAGCTCGCACA	0.612																																						dbGAP											0													53.0	49.0	50.0					17																	39680135		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11399.1	17q21.2	2013-06-20			ENSG00000171345	ENSG00000171345		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6436	protein-coding gene	gene with protein product	"""keratin, type I cytoskeletal 19"", ""keratin, type I, 40-kd"", ""cytokeratin 19"", ""40-kDa keratin intermediate filament"""	148020				16831889	Standard	NM_002276		Approved	K19, CK19, K1CS, MGC15366		P08727	OTTHUMG00000133422	ENST00000361566.3:c.1063G>A	17.37:g.39680135C>T	ENSP00000355124:p.Asp355Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R874|Q5XG83|Q6NW33|Q7L5M9|Q96A53|Q96FV1|Q9BYF9|Q9P1Y4	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.D355N	ENST00000361566.3	37	c.1063	CCDS11399.1	17	.	.	.	.	.	.	.	.	.	.	C	17.89	3.498864	0.64298	.	.	ENSG00000171345	ENST00000361566	D	0.89343	-2.5	4.99	4.99	0.66335	Filament (1);	0.000000	0.49916	D	0.000135	D	0.93644	0.7970	M	0.77616	2.38	0.58432	D	0.999995	P;D	0.60575	0.939;0.988	P;D	0.66979	0.795;0.948	D	0.94317	0.7550	10	0.87932	D	0	.	14.0167	0.64527	0.0:0.8487:0.1513:0.0	.	518;355	B4DE59;P08727	.;K1C19_HUMAN	N	355	ENSP00000355124:D355N	ENSP00000355124:D355N	D	-	1	0	KRT19	36933661	1.000000	0.71417	0.307000	0.25127	0.130000	0.20726	6.011000	0.70760	2.321000	0.78463	0.556000	0.70494	GAT	KRT19	-	pfam_F,prints_Keratin_I	ENSG00000171345		0.612	KRT19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT19	HGNC	protein_coding	OTTHUMT00000257285.1	50	0.00	0	C	NM_002276		39680135	39680135	-1	no_errors	ENST00000361566	ensembl	human	known	69_37n	missense	18	37.93	11	SNP	0.997	T
KRT82	3888	genome.wustl.edu	37	12	52789544	52789544	+	Splice_Site	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:52789544G>A	ENST00000257974.2	-	8	1397	c.1320C>T	c.(1318-1320)atC>atT	p.I440I	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	440	Tail.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		TCTACTTACAGATATTCACGG	0.542																																						dbGAP											0													62.0	55.0	57.0					12																	52789544		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			Y19207	CCDS8826.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000161850		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6459	protein-coding gene	gene with protein product	"""hard keratin type II 2"""	601078	"""keratin, hair, basic, 2"""	KRTHB2		2431943, 16831889	Standard	NM_033033		Approved	Hb-2	uc001sai.1	Q9NSB4	OTTHUMG00000169636	ENST00000257974.2:c.1321+1C>T	12.37:g.52789544G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_F,prints_Keratin_II,prints_Keratin_I	p.I440	ENST00000257974.2	37	c.1320	CCDS8826.1	12																																																																																			KRT82	-	NULL	ENSG00000161850		0.542	KRT82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT82	HGNC	protein_coding	OTTHUMT00000405189.1	48	0.00	0	G	NM_033033	Silent	52789544	52789544	-1	no_errors	ENST00000257974	ensembl	human	known	69_37n	silent	58	12.12	8	SNP	1.000	A
KRT75	9119	genome.wustl.edu	37	12	52822460	52822460	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:52822460G>C	ENST00000252245.5	-	6	1323	c.1103C>G	c.(1102-1104)tCt>tGt	p.S368C	RP11-1020M18.10_ENST00000548135.1_RNA	NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	368	Coil 2.|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)		GTTCATTTCAGAGATCTCTTG	0.507																																						dbGAP											0													194.0	159.0	171.0					12																	52822460		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.1103C>G	12.37:g.52822460G>C	ENSP00000252245:p.Ser368Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DQU4|Q9NSA9	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.S368C	ENST00000252245.5	37	c.1103	CCDS8827.1	12	.	.	.	.	.	.	.	.	.	.	G	17.21	3.331635	0.60853	.	.	ENSG00000170454	ENST00000252245	D	0.89552	-2.53	5.18	5.18	0.71444	Prefoldin (1);Filament (1);	0.000000	0.49305	D	0.000144	D	0.95996	0.8696	H	0.96518	3.835	0.26202	N	0.97944	D	0.71674	0.998	D	0.67231	0.95	D	0.91292	0.5060	10	0.87932	D	0	.	15.1074	0.72332	0.0:0.0:0.8581:0.1419	.	368	O95678	K2C75_HUMAN	C	368	ENSP00000252245:S368C	ENSP00000252245:S368C	S	-	2	0	KRT75	51108727	1.000000	0.71417	0.938000	0.37757	0.608000	0.37181	6.512000	0.73737	2.428000	0.82296	0.561000	0.74099	TCT	KRT75	-	pfam_F,superfamily_Prefoldin	ENSG00000170454		0.507	KRT75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT75	HGNC	protein_coding	OTTHUMT00000404968.1	166	0.00	0	G	NM_004693		52822460	52822460	-1	no_errors	ENST00000252245	ensembl	human	known	69_37n	missense	207	18.18	46	SNP	0.439	C
KRT75	9119	genome.wustl.edu	37	12	52827016	52827016	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:52827016C>T	ENST00000252245.5	-	2	739	c.519G>A	c.(517-519)caG>caA	p.Q173Q		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	173	Coil 1A.|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)		GGACCTTGTTCTGCTGCTCCA	0.522																																						dbGAP											0													56.0	57.0	57.0					12																	52827016		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			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.519G>A	12.37:g.52827016C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DQU4|Q9NSA9	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.Q173	ENST00000252245.5	37	c.519	CCDS8827.1	12																																																																																			KRT75	-	pfam_F	ENSG00000170454		0.522	KRT75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT75	HGNC	protein_coding	OTTHUMT00000404968.1	29	0.00	0	C	NM_004693		52827016	52827016	-1	no_errors	ENST00000252245	ensembl	human	known	69_37n	silent	32	20.00	8	SNP	1.000	T
KRT6C	286887	genome.wustl.edu	37	12	52862993	52862993	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:52862993G>A	ENST00000252250.6	-	9	1595	c.1548C>T	c.(1546-1548)tcC>tcT	p.S516S		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	516	Tail.				intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		CACTGCCATAGGAGTAGCTGC	0.607																																						dbGAP											0													77.0	73.0	74.0					12																	52862993		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L42611	CCDS8829.1	12q13.13	2013-01-16	2006-07-17	2006-07-17	ENSG00000170465	ENSG00000170465		"""-"", ""Intermediate filaments type II, keratins (basic)"""	20406	protein-coding gene	gene with protein product		612315	"""keratin 6E"""	KRT6E		7543104, 16831889	Standard	NM_173086		Approved		uc001sal.4	P48668	OTTHUMG00000169596	ENST00000252250.6:c.1548C>T	12.37:g.52862993G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4L5|P48666|Q2TAZ9|Q7RTN9	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.S516	ENST00000252250.6	37	c.1548	CCDS8829.1	12																																																																																			KRT6C	-	NULL	ENSG00000170465		0.607	KRT6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT6C	HGNC	protein_coding	OTTHUMT00000404976.1	122	0.00	0	G	NM_173086		52862993	52862993	-1	no_errors	ENST00000252250	ensembl	human	known	69_37n	silent	52	59.69	77	SNP	0.995	A
KRT5	3852	genome.wustl.edu	37	12	52910956	52910956	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:52910956C>T	ENST00000252242.4	-	6	1543	c.1153G>A	c.(1153-1155)Gag>Aag	p.E385K		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	385	Coil 2.|Rod.				cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCAGAGATCTCATGCTTGGTG	0.517																																						dbGAP											0													128.0	120.0	123.0					12																	52910956		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6442	protein-coding gene	gene with protein product		148040	"""epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types"", ""keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"""	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.1153G>A	12.37:g.52910956C>T	ENSP00000252242:p.Glu385Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6PI71|Q6UBJ0|Q8TA91	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.E385K	ENST00000252242.4	37	c.1153	CCDS8830.1	12	.	.	.	.	.	.	.	.	.	.	C	37	6.041902	0.97231	.	.	ENSG00000186081	ENST00000252242;ENST00000456000	D	0.92858	-3.12	5.63	5.63	0.86233	Filament (1);	0.000000	0.64402	D	0.000019	D	0.97898	0.9309	H	0.97918	4.105	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.98979	1.0804	10	0.87932	D	0	.	19.6959	0.96026	0.0:1.0:0.0:0.0	.	385	P13647	K2C5_HUMAN	K	385;350	ENSP00000252242:E385K	ENSP00000252242:E385K	E	-	1	0	KRT5	51197223	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	6.069000	0.71209	2.648000	0.89879	0.655000	0.94253	GAG	KRT5	-	pfam_F,superfamily_Prefoldin,prints_Keratin_II	ENSG00000186081		0.517	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	KRT5	HGNC	protein_coding	OTTHUMT00000405312.1	114	0.87	1	C			52910956	52910956	-1	no_errors	ENST00000252242	ensembl	human	known	69_37n	missense	81	19.80	20	SNP	1.000	T
KRTAP4-9	100132386	genome.wustl.edu	37	17	39262177	39262177	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:39262177C>T	ENST00000391415.1	+	1	594	c.537C>T	c.(535-537)gtC>gtT	p.V179V		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	179					aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGCGTCCAGTCTGTGGCCGAG	0.662																																						dbGAP											0													33.0	38.0	36.0					17																	39262177		692	1590	2282	-	-	-	SO:0001819	synonymous_variant	0			AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"""Keratin associated proteins"""	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.537C>T	17.37:g.39262177C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Keratin-assoc	p.V179	ENST00000391415.1	37	c.537	CCDS54124.1	17																																																																																			KRTAP4-9	-	NULL	ENSG00000212722		0.662	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP4-9	HGNC	protein_coding	OTTHUMT00000257688.1	76	0.00	0	C	NM_001146041		39262177	39262177	+1	no_errors	ENST00000391415	ensembl	human	known	69_37n	silent	58	24.68	19	SNP	0.850	T
KRT9	3857	genome.wustl.edu	37	17	39724873	39724873	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:39724873C>T	ENST00000246662.4	-	5	1122	c.1057G>A	c.(1057-1059)Gag>Aag	p.E353K	KRT9_ENST00000588431.1_Missense_Mutation_p.E120K	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	353	Coil 2.|Rod.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				ACCTCATGCTCGATCTGGGTT	0.552																																						dbGAP											0													284.0	266.0	272.0					17																	39724873		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS32654.1	17q21.2	2013-06-20	2008-08-01		ENSG00000171403	ENSG00000171403		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6447	protein-coding gene	gene with protein product	"""cytokeratin 9"", ""type I cytoskeletal 9"", ""epidermolytic palmoplantar keratoderma"""	607606				7512862, 16831889	Standard	NM_000226		Approved	EPPK, K9, CK-9	uc002hxe.4	P35527	OTTHUMG00000133599	ENST00000246662.4:c.1057G>A	17.37:g.39724873C>T	ENSP00000246662:p.Glu353Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O00109|Q0IJ47|Q14665	Missense_Mutation	SNP	pfam_F,prints_Keratin_I	p.E353K	ENST00000246662.4	37	c.1057	CCDS32654.1	17	.	.	.	.	.	.	.	.	.	.	C	16.50	3.140257	0.56936	.	.	ENSG00000171403	ENST00000246662	D	0.88354	-2.37	5.15	0.244	0.15507	Filament (1);	0.000000	0.32785	N	0.005646	D	0.82412	0.5031	N	0.20328	0.56	0.09310	N	1	D	0.59357	0.985	P	0.53760	0.734	T	0.73241	-0.4045	10	0.62326	D	0.03	.	3.8545	0.08970	0.0:0.3339:0.4006:0.2655	.	353	P35527	K1C9_HUMAN	K	353	ENSP00000246662:E353K	ENSP00000246662:E353K	E	-	1	0	KRT9	36978399	0.000000	0.05858	0.012000	0.15200	0.384000	0.30261	-0.379000	0.07437	0.518000	0.28383	0.561000	0.74099	GAG	KRT9	-	pfam_F	ENSG00000171403		0.552	KRT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT9	HGNC	protein_coding	OTTHUMT00000257707.1	69	0.00	0	C	NM_000226		39724873	39724873	-1	no_errors	ENST00000246662	ensembl	human	known	69_37n	missense	22	66.15	43	SNP	0.006	T
KRTAP5-11	440051	genome.wustl.edu	37	11	71293714	71293714	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:71293714C>T	ENST00000398530.1	-	1	207	c.170G>A	c.(169-171)tGt>tAt	p.C57Y	KRTAP5-11_ENST00000526239.1_Intron|AP000867.1_ENST00000343767.3_Intron	NM_001005405.2	NP_001005405.1	Q6L8G4	KR511_HUMAN	keratin associated protein 5-11	57	6 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						ACAGGAGCCACAGCTGGAGCA	0.632																																						dbGAP											0													99.0	122.0	114.0					11																	71293714		2200	4293	6493	-	-	-	SO:0001583	missense	0			AB126080	CCDS41685.1	11q13.4	2008-11-06			ENSG00000204571	ENSG00000204571		"""Keratin associated proteins"""	23606	protein-coding gene	gene with protein product						15144888	Standard	NM_001005405		Approved	KRTAP5.11, KRTAP5-6	uc001oqu.3	Q6L8G4	OTTHUMG00000057586	ENST00000398530.1:c.170G>A	11.37:g.71293714C>T	ENSP00000381541:p.Cys57Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.C57Y	ENST00000398530.1	37	c.170	CCDS41685.1	11	.	.	.	.	.	.	.	.	.	.	.	11.93	1.785593	0.31593	.	.	ENSG00000204571	ENST00000376535;ENST00000398530	T	0.02369	4.32	1.72	1.72	0.24424	.	.	.	.	.	T	0.09512	0.0234	M	0.92970	3.365	0.31862	N	0.620856	P	0.52842	0.956	P	0.45660	0.489	T	0.18085	-1.0348	9	0.87932	D	0	.	9.4581	0.38767	0.0:1.0:0.0:0.0	.	57	Q6L8G4	KR511_HUMAN	Y	57	ENSP00000381541:C57Y	ENSP00000365718:C57Y	C	-	2	0	KRTAP5-11	70971362	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	1.360000	0.34125	1.252000	0.44001	0.545000	0.68477	TGT	KRTAP5-11	-	NULL	ENSG00000204571		0.632	KRTAP5-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP5-11	HGNC	protein_coding	OTTHUMT00000127969.1	138	0.00	0	C	NM_001005405		71293714	71293714	-1	no_errors	ENST00000398530	ensembl	human	known	69_37n	missense	431	20.63	112	SNP	1.000	T
KSR2	283455	genome.wustl.edu	37	12	117962947	117962947	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:117962947C>G	ENST00000339824.5	-	14	2656	c.1929G>C	c.(1927-1929)cgG>cgC	p.R643R	KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000425217.1_Silent_p.R614R|KSR2_ENST00000302438.5_Silent_p.R340R			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	643					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTGGGAAGCTCCGGGCCGAGA	0.597																																						dbGAP											0													62.0	68.0	66.0					12																	117962947		2123	4248	6371	-	-	-	SO:0001819	synonymous_variant	0			AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.1929G>C	12.37:g.117962947C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJT2|Q3B828|Q8N775	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.R643	ENST00000339824.5	37	c.1929		12																																																																																			KSR2	-	superfamily_Kinase-like_dom	ENSG00000171435		0.597	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	KSR2	HGNC	protein_coding	OTTHUMT00000401987.2	55	0.00	0	C	NM_173598		117962947	117962947	-1	no_errors	ENST00000339824	ensembl	human	known	69_37n	silent	81	22.86	24	SNP	1.000	G
KY	339855	genome.wustl.edu	37	3	134323027	134323027	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:134323027C>G	ENST00000423778.2	-	11	1441	c.1380G>C	c.(1378-1380)caG>caC	p.Q460H	KY_ENST00000508956.1_Missense_Mutation_p.Q439H|KY_ENST00000503669.1_3'UTR	NM_178554.4	NP_848649.3	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	460					muscle organ development (GO:0007517)|neuromuscular junction development (GO:0007528)	cytoskeleton (GO:0005856)|Z disc (GO:0030018)	peptidase activity (GO:0008233)			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						TGATGCCCATCTGCTCCGAGA	0.602																																						dbGAP											0													30.0	33.0	32.0					3																	134323027		2090	4202	6292	-	-	-	SO:0001583	missense	0			AK090526	CCDS46920.1	3q22.1	2010-11-23			ENSG00000174611	ENSG00000174611			26576	protein-coding gene	gene with protein product		605739					Standard	NM_178554		Approved	FLJ33207	uc010hty.3	Q8NBH2	OTTHUMG00000159788	ENST00000423778.2:c.1380G>C	3.37:g.134323027C>G	ENSP00000397598:p.Gln460His	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z1S4|Q6ZT15	Missense_Mutation	SNP	pfam_Transglutaminase-like,smart_Transglutaminase-like	p.Q460H	ENST00000423778.2	37	c.1380	CCDS46920.1	3	.	.	.	.	.	.	.	.	.	.	C	14.87	2.665641	0.47677	.	.	ENSG00000174611	ENST00000508956;ENST00000423778;ENST00000310263	.	.	.	5.63	4.74	0.60224	.	0.277040	0.30410	N	0.009688	T	0.52175	0.1718	L	0.36672	1.1	0.80722	D	1	D;D	0.67145	0.993;0.996	P;P	0.57776	0.747;0.827	T	0.53809	-0.8386	9	0.56958	D	0.05	7.0E-4	5.5699	0.17190	0.0:0.6161:0.1583:0.2255	.	439;460	Q8NBH2-3;Q8NBH2-4	.;.	H	439;460;460	.	ENSP00000309520:Q460H	Q	-	3	2	KY	135805717	0.971000	0.33674	1.000000	0.80357	0.998000	0.95712	-0.040000	0.12104	2.659000	0.90383	0.561000	0.74099	CAG	KY	-	NULL	ENSG00000174611		0.602	KY-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KY	HGNC	protein_coding	OTTHUMT00000357320.1	30	0.00	0	C	NM_178554		134323027	134323027	-1	no_errors	ENST00000423778	ensembl	human	known	69_37n	missense	43	17.31	9	SNP	1.000	G
L2HGDH	79944	genome.wustl.edu	37	14	50769675	50769675	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:50769675G>A	ENST00000267436.4	-	2	598	c.201C>T	c.(199-201)ctC>ctT	p.L67L	L2HGDH_ENST00000556393.1_5'UTR|L2HGDH_ENST00000555610.1_Silent_p.L67L|L2HGDH_ENST00000555423.1_Silent_p.L67L|L2HGDH_ENST00000421284.3_Silent_p.L67L|L2HGDH_ENST00000261699.4_Silent_p.L67L			Q9H9P8	L2HDH_HUMAN	L-2-hydroxyglutarate dehydrogenase	67					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2-hydroxyglutarate dehydrogenase activity (GO:0047545)			kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10	all_epithelial(31;0.000599)|Breast(41;0.0102)					GTCGCAGGATGAGTGCTCTGG	0.393																																						dbGAP											0													133.0	132.0	132.0					14																	50769675		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS9698.1	14q22.1	2006-04-28	2005-05-25	2005-05-25	ENSG00000087299	ENSG00000087299	1.1.99.2		20499	protein-coding gene	gene with protein product	"""2-hydroxyglutarate dehydrogenase"""	609584	"""chromosome 14 open reading frame 160"""	C14orf160		16005139	Standard	NM_024884		Approved	FLJ12618	uc001wxu.3	Q9H9P8	OTTHUMG00000140289	ENST00000267436.4:c.201C>T	14.37:g.50769675G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BRR1	Silent	SNP	pfam_FAD-dep_OxRdtase	p.L67	ENST00000267436.4	37	c.201	CCDS9698.1	14																																																																																			L2HGDH	-	pfam_FAD-dep_OxRdtase	ENSG00000087299		0.393	L2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	L2HGDH	HGNC	protein_coding	OTTHUMT00000276870.2	75	0.00	0	G	NM_024884		50769675	50769675	-1	no_errors	ENST00000267436	ensembl	human	known	69_37n	silent	52	27.78	20	SNP	0.989	A
L3MBTL2	83746	genome.wustl.edu	37	22	41621039	41621039	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:41621039G>A	ENST00000216237.5	+	11	1478	c.1320G>A	c.(1318-1320)ctG>ctA	p.L440L		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	440					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTGACCCCCTGAATCTGGGCA	0.592																																						dbGAP											0													161.0	152.0	155.0					22																	41621039		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ305226	CCDS14011.1	22q13.31-q13.33	2008-06-11			ENSG00000100395	ENSG00000100395			18594	protein-coding gene	gene with protein product		611865				11682070	Standard	NM_031488		Approved	H-l(3)mbt-l, DKFZP761I141, dJ756G23.3	uc003azo.3	Q969R5	OTTHUMG00000150942	ENST00000216237.5:c.1320G>A	22.37:g.41621039G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4	Silent	SNP	pfam_Mbt,smart_Mbt,pfscan_Mbt,pfscan_Znf_FCS	p.L440	ENST00000216237.5	37	c.1320	CCDS14011.1	22																																																																																			L3MBTL2	-	pfam_Mbt,smart_Mbt,pfscan_Mbt	ENSG00000100395		0.592	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	L3MBTL2	HGNC	protein_coding	OTTHUMT00000320613.1	141	0.00	0	G	NM_031488		41621039	41621039	+1	no_errors	ENST00000216237	ensembl	human	known	69_37n	silent	155	31.42	71	SNP	1.000	A
LAMA1	284217	genome.wustl.edu	37	18	7050797	7050797	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr18:7050797G>C	ENST00000389658.3	-	4	577	c.484C>G	c.(484-486)Cgt>Ggt	p.R162G		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	162	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				ATATTGTAACGAGACAAACAC	0.517																																						dbGAP											0													123.0	100.0	108.0					18																	7050797		2203	4300	6503	-	-	-	SO:0001583	missense	0			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.484C>G	18.37:g.7050797G>C	ENSP00000374309:p.Arg162Gly	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.R162G	ENST00000389658.3	37	c.484	CCDS32787.1	18	.	.	.	.	.	.	.	.	.	.	G	19.72	3.880479	0.72294	.	.	ENSG00000101680	ENST00000389658	T	0.76060	-0.99	5.96	5.96	0.96718	Laminin, N-terminal (3);	0.064020	0.64402	D	0.000006	D	0.86037	0.5837	M	0.84948	2.725	0.38089	D	0.936894	D	0.76494	0.999	D	0.69142	0.962	D	0.84579	0.0660	10	0.20519	T	0.43	.	15.9652	0.79966	0.0:0.0:0.8647:0.1353	.	162	P25391	LAMA1_HUMAN	G	162	ENSP00000374309:R162G	ENSP00000374309:R162G	R	-	1	0	LAMA1	7040797	1.000000	0.71417	0.920000	0.36463	0.927000	0.56198	6.408000	0.73285	2.832000	0.97577	0.655000	0.94253	CGT	LAMA1	-	pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N	ENSG00000101680		0.517	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	HGNC	protein_coding	OTTHUMT00000257369.1	101	0.00	0	G	NM_005559		7050797	7050797	-1	no_errors	ENST00000389658	ensembl	human	known	69_37n	missense	36	26.53	13	SNP	0.780	C
LAMA2	3908	genome.wustl.edu	37	6	129465144	129465144	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:129465144G>A	ENST00000421865.2	+	5	787	c.738G>A	c.(736-738)caG>caA	p.Q246Q		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	246	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGAGATTTCAGAGGATCCGCA	0.433																																						dbGAP											0													117.0	110.0	112.0					6																	129465144		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.738G>A	6.37:g.129465144G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14736|Q5VUM2|Q93022	Silent	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.Q246	ENST00000421865.2	37	c.738	CCDS5138.1	6																																																																																			LAMA2	-	pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N	ENSG00000196569		0.433	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA2	HGNC	protein_coding	OTTHUMT00000042180.1	92	0.00	0	G			129465144	129465144	+1	no_errors	ENST00000421865	ensembl	human	known	69_37n	silent	71	21.11	19	SNP	1.000	A
LAMA3	3909	genome.wustl.edu	37	18	21501525	21501525	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr18:21501525G>A	ENST00000313654.9	+	62	8394	c.8153G>A	c.(8152-8154)gGa>gAa	p.G2718E	LAMA3_ENST00000269217.6_Missense_Mutation_p.G1109E|LAMA3_ENST00000399516.3_Missense_Mutation_p.G2662E|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.G1053E	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2718	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					TATCTGGGAGGAATTCCAATT	0.333																																						dbGAP											0													121.0	126.0	125.0					18																	21501525		2203	4300	6503	-	-	-	SO:0001583	missense	0			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.8153G>A	18.37:g.21501525G>A	ENSP00000324532:p.Gly2718Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl,superfamily_Growth_fac_rcpt,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.G2718E	ENST00000313654.9	37	c.8153	CCDS42419.1	18	.	.	.	.	.	.	.	.	.	.	G	25.5	4.646390	0.87958	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	D;D;D	0.97430	-4.38;-4.38;-4.38	5.77	5.77	0.91146	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	D	0.98629	0.9541	M	0.85777	2.775	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	D	0.99437	1.0937	9	0.87932	D	0	.	19.5845	0.95486	0.0:0.0:1.0:0.0	.	1053;1109;2662;2718	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	E	2718;2662;1109	ENSP00000324532:G2718E;ENSP00000382432:G2662E;ENSP00000269217:G1109E	ENSP00000269217:G1109E	G	+	2	0	LAMA3	19755523	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.052000	0.71080	2.730000	0.93505	0.655000	0.94253	GGA	LAMA3	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000053747		0.333	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA3	HGNC	protein_coding	OTTHUMT00000254824.3	114	0.00	0	G	NM_000227, NM_198129		21501525	21501525	+1	no_errors	ENST00000313654	ensembl	human	known	69_37n	missense	43	30.65	19	SNP	1.000	A
LAMA4	3910	genome.wustl.edu	37	6	112435312	112435312	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:112435312G>T	ENST00000230538.7	-	38	5690	c.5293C>A	c.(5293-5295)Cac>Aac	p.H1765N	LAMA4_ENST00000424408.2_Missense_Mutation_p.H1758N|LAMA4_ENST00000522006.1_Missense_Mutation_p.H1758N|LAMA4_ENST00000389463.4_Missense_Mutation_p.H1758N	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1765	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GGCTCCCTGTGATCAATTGGT	0.413																																						dbGAP											0													110.0	105.0	106.0					6																	112435312		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.5293C>A	6.37:g.112435312G>T	ENSP00000230538:p.His1765Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_II,pfam_EGF_laminin,superfamily_ConA-like_lec_gl,superfamily_Focal_adhesion_kin_target_dom,smart_EGF_laminin,smart_EGF-like,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Laminin_G	p.H1765N	ENST00000230538.7	37	c.5293	CCDS43491.1	6	.	.	.	.	.	.	.	.	.	.	G	11.86	1.764789	0.31228	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23	5.6	4.72	0.59763	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.330316	0.36101	N	0.002784	T	0.47838	0.1467	N	0.11427	0.14	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.47971	-0.9075	10	0.44086	T	0.13	.	16.0451	0.80714	0.0:0.0:0.8647:0.1353	.	1765;1758	Q16363;Q16363-2	LAMA4_HUMAN;.	N	1765;1758;1758;1758	ENSP00000230538:H1765N;ENSP00000429488:H1758N;ENSP00000374114:H1758N;ENSP00000416470:H1758N	ENSP00000230538:H1765N	H	-	1	0	LAMA4	112542005	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.415000	0.52700	1.459000	0.47892	0.655000	0.94253	CAC	LAMA4	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000112769		0.413	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAMA4	HGNC	protein_coding	OTTHUMT00000041876.2	105	0.00	0	G	NM_001105206		112435312	112435312	-1	no_errors	ENST00000230538	ensembl	human	known	69_37n	missense	70	20.45	18	SNP	1.000	T
LAMA4	3910	genome.wustl.edu	37	6	112441616	112441616	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:112441616G>C	ENST00000230538.7	-	33	4932	c.4535C>G	c.(4534-4536)tCa>tGa	p.S1512*	LAMA4_ENST00000424408.2_Nonsense_Mutation_p.S1505*|LAMA4_ENST00000522006.1_Nonsense_Mutation_p.S1505*|LAMA4_ENST00000389463.4_Nonsense_Mutation_p.S1505*	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1512	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TTCTTGATCTGAGACATAGAA	0.393																																						dbGAP											0													83.0	76.0	79.0					6																	112441616		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.4535C>G	6.37:g.112441616G>C	ENSP00000230538:p.Ser1512*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Nonsense_Mutation	SNP	pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_II,pfam_EGF_laminin,superfamily_ConA-like_lec_gl,superfamily_Focal_adhesion_kin_target_dom,smart_EGF_laminin,smart_EGF-like,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Laminin_G	p.S1512*	ENST00000230538.7	37	c.4535	CCDS43491.1	6	.	.	.	.	.	.	.	.	.	.	G	47	13.471398	0.99744	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	.	.	.	5.8	5.8	0.92144	.	0.128200	0.53938	D	0.000047	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	20.0586	0.97663	0.0:0.0:1.0:0.0	.	.	.	.	X	1512;1505;1505;1505	.	ENSP00000230538:S1512X	S	-	2	0	LAMA4	112548309	1.000000	0.71417	0.996000	0.52242	0.984000	0.73092	8.677000	0.91203	2.741000	0.93983	0.650000	0.86243	TCA	LAMA4	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000112769		0.393	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAMA4	HGNC	protein_coding	OTTHUMT00000041876.2	83	0.00	0	G	NM_001105206		112441616	112441616	-1	no_errors	ENST00000230538	ensembl	human	known	69_37n	nonsense	58	19.44	14	SNP	1.000	C
LAMA4	3910	genome.wustl.edu	37	6	112450267	112450267	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:112450267C>G	ENST00000230538.7	-	31	4541	c.4144G>C	c.(4144-4146)Gat>Cat	p.D1382H	LAMA4_ENST00000424408.2_Missense_Mutation_p.D1375H|LAMA4_ENST00000522006.1_Missense_Mutation_p.D1375H|LAMA4_ENST00000389463.4_Missense_Mutation_p.D1375H	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1382	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		ACCTCCACATCTCTATCCACC	0.348																																						dbGAP											0													73.0	70.0	71.0					6																	112450267		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.4144G>C	6.37:g.112450267C>G	ENSP00000230538:p.Asp1382His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_II,pfam_EGF_laminin,superfamily_ConA-like_lec_gl,superfamily_Focal_adhesion_kin_target_dom,smart_EGF_laminin,smart_EGF-like,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Laminin_G	p.D1382H	ENST00000230538.7	37	c.4144	CCDS43491.1	6	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409413	0.83340	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.14022	2.57;2.54;2.54;2.54	5.68	5.68	0.88126	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.043299	0.85682	D	0.000000	T	0.29783	0.0744	M	0.63428	1.95	0.80722	D	1	D;D	0.89917	0.998;1.0	P;D	0.76575	0.888;0.988	T	0.01136	-1.1440	10	0.59425	D	0.04	.	19.8045	0.96525	0.0:1.0:0.0:0.0	.	1382;1375	Q16363;Q16363-2	LAMA4_HUMAN;.	H	1382;1375;1375;1375	ENSP00000230538:D1382H;ENSP00000429488:D1375H;ENSP00000374114:D1375H;ENSP00000416470:D1375H	ENSP00000230538:D1382H	D	-	1	0	LAMA4	112556960	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.789000	0.75110	2.694000	0.91930	0.585000	0.79938	GAT	LAMA4	-	superfamily_ConA-like_lec_gl,pfscan_Laminin_G	ENSG00000112769		0.348	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAMA4	HGNC	protein_coding	OTTHUMT00000041876.2	72	0.00	0	C	NM_001105206		112450267	112450267	-1	no_errors	ENST00000230538	ensembl	human	known	69_37n	missense	60	30.23	26	SNP	1.000	G
LAMA4	3910	genome.wustl.edu	37	6	112528278	112528278	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:112528278G>C	ENST00000230538.7	-	4	763	c.366C>G	c.(364-366)atC>atG	p.I122M	LAMA4_ENST00000424408.2_Missense_Mutation_p.I122M|LAMA4_ENST00000522006.1_Missense_Mutation_p.I122M|LAMA4_ENST00000524032.1_5'UTR|LAMA4_ENST00000389463.4_Missense_Mutation_p.I122M	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	122	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GTGCTCCCCTGATGGAATCTC	0.507																																						dbGAP											0													87.0	80.0	82.0					6																	112528278		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.366C>G	6.37:g.112528278G>C	ENSP00000230538:p.Ile122Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_II,pfam_EGF_laminin,superfamily_ConA-like_lec_gl,superfamily_Focal_adhesion_kin_target_dom,smart_EGF_laminin,smart_EGF-like,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Laminin_G	p.I122M	ENST00000230538.7	37	c.366	CCDS43491.1	6	.	.	.	.	.	.	.	.	.	.	G	16.14	3.039599	0.55003	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408;ENST00000454881;ENST00000521398;ENST00000542588;ENST00000368639	T;T;T;T;T	0.61392	0.11;0.11;0.11;0.11;0.11	6.02	4.21	0.49690	EGF-like, laminin (4);	0.287528	0.38897	N	0.001525	T	0.52948	0.1766	L	0.54323	1.7	0.80722	D	1	D;D	0.57257	0.979;0.967	P;P	0.55713	0.782;0.6	T	0.60037	-0.7341	10	0.72032	D	0.01	.	9.7645	0.40552	0.0734:0.0:0.7767:0.1499	.	122;122	Q16363;Q16363-2	LAMA4_HUMAN;.	M	122	ENSP00000230538:I122M;ENSP00000429488:I122M;ENSP00000374114:I122M;ENSP00000416470:I122M;ENSP00000430336:I122M	ENSP00000230538:I122M	I	-	3	3	LAMA4	112634971	1.000000	0.71417	1.000000	0.80357	0.336000	0.28762	2.213000	0.42844	1.521000	0.48983	0.655000	0.94253	ATC	LAMA4	-	pfam_EGF_laminin,smart_EGF_laminin,smart_EGF-like,pfscan_EGF_laminin	ENSG00000112769		0.507	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAMA4	HGNC	protein_coding	OTTHUMT00000041876.2	32	0.00	0	G	NM_001105206		112528278	112528278	-1	no_errors	ENST00000230538	ensembl	human	known	69_37n	missense	27	22.86	8	SNP	1.000	C
LAMB4	22798	genome.wustl.edu	37	7	107692599	107692599	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:107692599C>T	ENST00000388781.3	-	26	3942	c.3859G>A	c.(3859-3861)Gaa>Aaa	p.E1287K	LAMB4_ENST00000205386.4_Missense_Mutation_p.E1287K|LAMB4_ENST00000388780.3_Missense_Mutation_p.E1287K	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1287	Domain II.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TGAAGGTCTTCAAGTAAGAGG	0.368																																						dbGAP											0													197.0	188.0	191.0					7																	107692599		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.3859G>A	7.37:g.107692599C>T	ENSP00000373433:p.Glu1287Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.E1287K	ENST00000388781.3	37	c.3859	CCDS34732.1	7	.	.	.	.	.	.	.	.	.	.	C	5.889	0.348169	0.11126	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000422975;ENST00000388780	T;T;T;T	0.30981	1.51;1.51;1.93;1.53	5.23	3.3	0.37823	.	0.120167	0.37053	N	0.002261	T	0.15565	0.0375	N	0.14661	0.345	0.30680	N	0.752448	B;B	0.27416	0.178;0.012	B;B	0.29862	0.108;0.012	T	0.18713	-1.0328	10	0.08599	T	0.76	.	9.618	0.39704	0.0:0.8224:0.0:0.1776	.	1287;1287	A4D0S4-3;A4D0S4	.;LAMB4_HUMAN	K	1287;1287;313;1287	ENSP00000205386:E1287K;ENSP00000373433:E1287K;ENSP00000416562:E313K;ENSP00000373432:E1287K	ENSP00000205386:E1287K	E	-	1	0	LAMB4	107479835	0.243000	0.23878	0.228000	0.23943	0.873000	0.50193	1.359000	0.34113	1.359000	0.45940	-0.345000	0.07892	GAA	LAMB4	-	NULL	ENSG00000091128		0.368	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB4	HGNC	protein_coding	OTTHUMT00000337442.1	229	0.43	1	C	XM_209857		107692599	107692599	-1	no_errors	ENST00000205386	ensembl	human	known	69_37n	missense	175	16.27	34	SNP	0.403	T
LAMB4	22798	genome.wustl.edu	37	7	107696107	107696107	+	Nonsense_Mutation	SNP	A	A	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:107696107A>T	ENST00000388781.3	-	25	3808	c.3725T>A	c.(3724-3726)tTa>tAa	p.L1242*	LAMB4_ENST00000205386.4_Nonsense_Mutation_p.L1242*|LAMB4_ENST00000388780.3_Nonsense_Mutation_p.L1242*	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1242	Domain II.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CTTGACTTTTAAGAATTTCCC	0.408																																						dbGAP											0													102.0	112.0	109.0					7																	107696107		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.3725T>A	7.37:g.107696107A>T	ENSP00000373433:p.Leu1242*	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Nonsense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.L1242*	ENST00000388781.3	37	c.3725	CCDS34732.1	7	.	.	.	.	.	.	.	.	.	.	A	43	10.086706	0.99333	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000422975;ENST00000388780	.	.	.	5.0	2.57	0.30868	.	0.000000	0.31721	N	0.007176	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	6.7479	0.23472	0.5912:0.0:0.4088:0.0	.	.	.	.	X	1242;1242;268;1242	.	ENSP00000205386:L1242X	L	-	2	0	LAMB4	107483343	0.688000	0.27680	0.956000	0.39512	0.992000	0.81027	0.835000	0.27531	0.364000	0.24374	0.454000	0.30748	TTA	LAMB4	-	NULL	ENSG00000091128		0.408	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB4	HGNC	protein_coding	OTTHUMT00000337442.1	67	0.00	0	A	XM_209857		107696107	107696107	-1	no_errors	ENST00000205386	ensembl	human	known	69_37n	nonsense	35	41.67	25	SNP	0.973	T
LAMP3	27074	genome.wustl.edu	37	3	182871508	182871508	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:182871508C>G	ENST00000265598.3	-	2	976	c.721G>C	c.(721-723)Gag>Cag	p.E241Q	LAMP3_ENST00000466939.1_Missense_Mutation_p.E217Q	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	241					cell proliferation (GO:0008283)|immune system process (GO:0002376)	alveolar lamellar body membrane (GO:0097233)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			ATCCCCATCTCTGCTTTTATA	0.493																																						dbGAP											0													104.0	99.0	101.0					3																	182871508		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB013924	CCDS3242.1	3q26.3-q27	2011-11-24			ENSG00000078081	ENSG00000078081		"""CD molecules"""	14582	protein-coding gene	gene with protein product		605883				9721848	Standard	NM_014398		Approved	LAMP, TSC403, DC-LAMP, DCLAMP, CD208	uc003flh.4	Q9UQV4	OTTHUMG00000158387	ENST00000265598.3:c.721G>C	3.37:g.182871508C>G	ENSP00000265598:p.Glu241Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DNS4|O94781|Q8NEC8	Missense_Mutation	SNP	pfam_Lysosome-assoc_membr_glycop,prints_Lysosome-assoc_membr_glycop	p.E241Q	ENST00000265598.3	37	c.721	CCDS3242.1	3	.	.	.	.	.	.	.	.	.	.	C	17.74	3.463647	0.63513	.	.	ENSG00000078081	ENST00000265598;ENST00000466939	T;T	0.32023	1.47;1.47	5.81	5.81	0.92471	.	0.096988	0.45606	D	0.000350	T	0.53254	0.1785	M	0.72479	2.2	0.33313	D	0.56637	D	0.71674	0.998	D	0.66084	0.941	T	0.63589	-0.6603	10	0.46703	T	0.11	-22.3697	15.5785	0.76414	0.0:1.0:0.0:0.0	.	241	Q9UQV4	LAMP3_HUMAN	Q	241;217	ENSP00000265598:E241Q;ENSP00000418912:E217Q	ENSP00000265598:E241Q	E	-	1	0	LAMP3	184354202	1.000000	0.71417	1.000000	0.80357	0.512000	0.34134	2.358000	0.44134	2.736000	0.93811	0.655000	0.94253	GAG	LAMP3	-	pfam_Lysosome-assoc_membr_glycop,prints_Lysosome-assoc_membr_glycop	ENSG00000078081		0.493	LAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMP3	HGNC	protein_coding	OTTHUMT00000350863.1	87	0.00	0	C			182871508	182871508	-1	no_errors	ENST00000265598	ensembl	human	known	69_37n	missense	120	14.89	21	SNP	1.000	G
LARP1	23367	genome.wustl.edu	37	5	154172346	154172346	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:154172346G>C	ENST00000336314.4	+	4	522	c.498G>C	c.(496-498)caG>caC	p.Q166H		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	243					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GAGGCGGGCAGAAGAAGAAAG	0.512																																						dbGAP											0													89.0	92.0	91.0					5																	154172346		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.498G>C	5.37:g.154172346G>C	ENSP00000336721:p.Gln166His	Somatic		WXS	Illumina GAIIx	Phase_IV	O94836|Q8N4M2|Q8NB73|Q9UFD7	Missense_Mutation	SNP	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd	p.Q166H	ENST00000336314.4	37	c.498	CCDS4328.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.94|13.94	2.386174|2.386174	0.42308|0.42308	.|.	.|.	ENSG00000155506|ENSG00000155506	ENST00000517616;ENST00000518194|ENST00000336314;ENST00000518297;ENST00000519931;ENST00000524248;ENST00000523163	.|T;T;T;T	.|0.50277	.|1.82;1.38;1.39;0.75	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	.|0.259894	.|0.39985	.|N	.|0.001203	T|T	0.35278|0.35278	0.0926|0.0926	L|L	0.27053|0.27053	0.805|0.805	0.40567|0.40567	D|D	0.981267|0.981267	.|B;B	.|0.19331	.|0.006;0.035	.|B;B	.|0.23716	.|0.003;0.048	T|T	0.20371|0.20371	-1.0277|-1.0277	5|10	.|0.51188	.|T	.|0.08	-18.9322|-18.9322	9.8121|9.8121	0.40828|0.40828	0.0726:0.1409:0.7865:0.0|0.0726:0.1409:0.7865:0.0	.|.	.|243;166	.|Q6PKG0;Q6PKG0-3	.|LARP1_HUMAN;.	Q|H	146;5|166;243;38;38;18	.|ENSP00000336721:Q166H;ENSP00000428589:Q243H;ENSP00000429904:Q38H;ENSP00000430438:Q18H	.|ENSP00000336721:Q166H	E|Q	+|+	1|3	0|2	LARP1|LARP1	154152539|154152539	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	1.330000|1.330000	0.33781|0.33781	2.706000|2.706000	0.92434|0.92434	0.655000|0.655000	0.94253|0.94253	GAA|CAG	LARP1	-	NULL	ENSG00000155506		0.512	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LARP1	HGNC	protein_coding	OTTHUMT00000252509.1	93	0.00	0	G	NM_033551		154172346	154172346	+1	no_errors	ENST00000336314	ensembl	human	known	69_37n	missense	65	38.68	41	SNP	1.000	C
LARP1B	55132	genome.wustl.edu	37	4	129019458	129019458	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:129019458C>G	ENST00000326639.6	+	8	997	c.786C>G	c.(784-786)ctC>ctG	p.L262L	LARP1B_ENST00000512292.1_Silent_p.L262L|LARP1B_ENST00000427266.1_Silent_p.L262L|LARP1B_ENST00000441387.1_Silent_p.L262L|LARP1B_ENST00000394288.3_Silent_p.L262L|LARP1B_ENST00000264584.5_Silent_p.L215L|LARP1B_ENST00000432347.2_Silent_p.L262L|LARP1B_ENST00000354456.3_5'UTR	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	262	HTH La-type RNA-binding. {ECO:0000255|PROSITE-ProRule:PRU00332}.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						TTCAGGCTCTCACTACAAACC	0.373																																						dbGAP											0													89.0	76.0	81.0					4																	129019458		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS3738.1, CCDS47133.1, CCDS64057.1	4q28.2	2009-06-09	2009-06-09	2009-06-09	ENSG00000138709	ENSG00000138709		"""La ribonucleoprotein domain containing"""	24704	protein-coding gene	gene with protein product			"""La ribonucleoprotein domain family, member 2"""	LARP2		12045101	Standard	NM_018078		Approved	FLJ10378, DKFZp434K245, DKFZp686E0316	uc003iga.3	Q659C4	OTTHUMG00000133343	ENST00000326639.6:c.786C>G	4.37:g.129019458C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2YDB6|Q4W599|Q4W5B2|Q659A0|Q6P5X2|Q7Z3F7|Q86VK7|Q8N6F4|Q8N7H4|Q8NAF2|Q9H5E7|Q9NW12	Missense_Mutation	SNP	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd	p.H231D	ENST00000326639.6	37	c.691	CCDS3738.1	4	.	.	.	.	.	.	.	.	.	.	C	9.053	0.992610	0.18966	.	.	ENSG00000138709	ENST00000507377	.	.	.	5.12	-1.01	0.10169	.	.	.	.	.	T	0.41903	0.1179	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25537	-1.0129	4	.	.	.	.	2.4012	0.04401	0.0981:0.3499:0.2543:0.2977	.	.	.	.	D	231	.	.	H	+	1	0	LARP1B	129238908	0.854000	0.29725	0.995000	0.50966	0.999000	0.98932	-0.052000	0.11865	-0.133000	0.11537	0.650000	0.86243	CAC	LARP1B	-	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd	ENSG00000138709		0.373	LARP1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LARP1B	HGNC	protein_coding	OTTHUMT00000257173.2	63	0.00	0	C	NM_018078		129019458	129019458	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000507377	ensembl	human	known	69_37n	missense	64	14.67	11	SNP	0.989	G
LARP4	113251	genome.wustl.edu	37	12	50822769	50822769	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:50822769C>G	ENST00000398473.2	+	3	330	c.218C>G	c.(217-219)tCt>tGt	p.S73C	LARP4_ENST00000429001.3_Missense_Mutation_p.S79C|LARP4_ENST00000518444.1_Missense_Mutation_p.S72C|LARP4_ENST00000293618.8_Missense_Mutation_p.S73C|LARP4_ENST00000347328.5_Missense_Mutation_p.S73C|LARP4_ENST00000518561.1_Missense_Mutation_p.S3C|LARP4_ENST00000522085.1_Missense_Mutation_p.S73C	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	73					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						GTAATGTATTCTTCATCTTGT	0.318																																						dbGAP											0													99.0	93.0	95.0					12																	50822769		1824	4080	5904	-	-	-	SO:0001583	missense	0			AY004310	CCDS41782.1, CCDS44879.1, CCDS44880.1, CCDS44879.2, CCDS53789.1, CCDS53790.1	12q13.12	2005-08-09			ENSG00000161813	ENSG00000161813		"""La ribonucleoprotein domain containing"""	24320	protein-coding gene	gene with protein product						12477932	Standard	NM_052879		Approved	PP13296	uc001rwp.2	Q71RC2	OTTHUMG00000163724	ENST00000398473.2:c.218C>G	12.37:g.50822769C>G	ENSP00000381490:p.Ser73Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6T1|E9PDG5|G3XAA8|G5E976|Q5CZ97|Q6ZV14|Q96NF9	Missense_Mutation	SNP	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd	p.S79C	ENST00000398473.2	37	c.236	CCDS41782.1	12	.	.	.	.	.	.	.	.	.	.	C	14.58	2.577378	0.45902	.	.	ENSG00000161813	ENST00000550522;ENST00000293618;ENST00000429001;ENST00000548174;ENST00000548697;ENST00000548993;ENST00000398473;ENST00000441650;ENST00000522085;ENST00000398464;ENST00000518444;ENST00000551886;ENST00000523389;ENST00000518561;ENST00000520064;ENST00000347328;ENST00000550260;ENST00000517559;ENST00000552445	T;T;T;T;T;T;T	0.51071	1.41;1.38;1.4;0.8;1.4;0.72;1.42	3.56	3.56	0.40772	.	0.407958	0.27397	N	0.019555	T	0.66713	0.2817	M	0.69823	2.125	0.43439	D	0.995615	P;D;D;D;D	0.89917	0.732;0.999;0.998;0.999;1.0	B;D;D;D;D	0.79784	0.43;0.993;0.972;0.948;0.976	T	0.71728	-0.4505	10	0.56958	D	0.05	.	15.6364	0.76958	0.0:1.0:0.0:0.0	.	72;73;73;73;79	Q71RC2-3;G3XAA8;G5E976;Q71RC2;Q71RC2-4	.;.;.;LARP4_HUMAN;.	C	3;73;79;81;3;3;73;3;73;73;72;73;3;3;72;73;72;3;3	ENSP00000293618:S73C;ENSP00000415464:S79C;ENSP00000381490:S73C;ENSP00000429781:S73C;ENSP00000429077:S72C;ENSP00000430851:S3C;ENSP00000340901:S73C	ENSP00000293618:S73C	S	+	2	0	LARP4	49109036	0.995000	0.38212	1.000000	0.80357	0.934000	0.57294	3.719000	0.54926	1.900000	0.55004	0.585000	0.79938	TCT	LARP4	-	NULL	ENSG00000161813		0.318	LARP4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LARP4	HGNC	protein_coding	OTTHUMT00000374981.1	80	0.00	0	C	NM_052879		50822769	50822769	+1	no_errors	ENST00000429001	ensembl	human	known	69_37n	missense	73	20.65	19	SNP	1.000	G
LARS	51520	genome.wustl.edu	37	5	145524057	145524057	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:145524057G>T	ENST00000394434.2	-	17	1799	c.1633C>A	c.(1633-1635)Cag>Aag	p.Q545K	LARS_ENST00000545646.1_Missense_Mutation_p.Q499K|LARS_ENST00000274562.9_Missense_Mutation_p.Q518K|LARS_ENST00000510191.1_Missense_Mutation_p.Q491K	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	545					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	TTCAAGCACTGAGATGTCTGT	0.363																																						dbGAP											0													160.0	154.0	156.0					5																	145524057		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	6512	protein-coding gene	gene with protein product	"""leucine tRNA ligase 1, cytoplasmic"""	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.1633C>A	5.37:g.145524057G>T	ENSP00000377954:p.Gln545Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Missense_Mutation	SNP	pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Cys-tRNA/MSH_ligase,tigrfam_Leu-tRNA-synth_Ia_arc/euk	p.Q545K	ENST00000394434.2	37	c.1633	CCDS34265.1	5	.	.	.	.	.	.	.	.	.	.	G	5.595	0.294546	0.10567	.	.	ENSG00000133706	ENST00000394434;ENST00000545646;ENST00000510191;ENST00000274562	T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92	5.3	4.43	0.53597	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.240542	0.40469	N	0.001082	T	0.34106	0.0886	N	0.00450	-1.49	0.29950	N	0.820288	B;B;B	0.23249	0.0;0.082;0.0	B;B;B	0.18871	0.002;0.023;0.002	T	0.42548	-0.9445	10	0.02654	T	1	-7.7952	9.1207	0.36786	0.0838:0.2625:0.6537:0.0	.	518;499;545	B4DER1;F5H698;Q9P2J5	.;.;SYLC_HUMAN	K	545;499;491;518	ENSP00000377954:Q545K;ENSP00000437791:Q499K;ENSP00000426005:Q491K;ENSP00000274562:Q518K	ENSP00000274562:Q518K	Q	-	1	0	LARS	145504250	0.998000	0.40836	0.889000	0.34880	0.992000	0.81027	3.493000	0.53266	1.386000	0.46466	0.491000	0.48974	CAG	LARS	-	pfam_aa-tRNA-synth_Ia,tigrfam_Leu-tRNA-synth_Ia_arc/euk	ENSG00000133706		0.363	LARS-001	KNOWN	basic|CCDS	protein_coding	LARS	HGNC	protein_coding	OTTHUMT00000373367.1	288	0.00	0	G	NM_020117		145524057	145524057	-1	no_errors	ENST00000394434	ensembl	human	known	69_37n	missense	159	28.70	64	SNP	0.989	T
LARS	51520	genome.wustl.edu	37	5	145543935	145543935	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:145543935C>G	ENST00000394434.2	-	6	698	c.532G>C	c.(532-534)Gaa>Caa	p.E178Q	LARS_ENST00000545646.1_Missense_Mutation_p.E132Q|LARS_ENST00000274562.9_Missense_Mutation_p.E151Q|LARS_ENST00000510191.1_Missense_Mutation_p.E124Q|LARS_ENST00000511505.1_5'UTR	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	178					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	AGCCAATGTTCTGCTTCAGAA	0.383																																						dbGAP											0													115.0	124.0	121.0					5																	145543935		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	6512	protein-coding gene	gene with protein product	"""leucine tRNA ligase 1, cytoplasmic"""	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.532G>C	5.37:g.145543935C>G	ENSP00000377954:p.Glu178Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Missense_Mutation	SNP	pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Cys-tRNA/MSH_ligase,tigrfam_Leu-tRNA-synth_Ia_arc/euk	p.E178Q	ENST00000394434.2	37	c.532	CCDS34265.1	5	.	.	.	.	.	.	.	.	.	.	C	14.40	2.523932	0.44866	.	.	ENSG00000133706	ENST00000394434;ENST00000545646;ENST00000510191;ENST00000274562	T;T;T;T	0.76968	-1.06;1.32;-1.06;-1.06	5.54	5.54	0.83059	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	D	0.82490	0.5048	L	0.33668	1.02	0.80722	D	1	B;D;B	0.71674	0.027;0.998;0.07	B;D;B	0.80764	0.063;0.994;0.038	T	0.77384	-0.2608	10	0.20046	T	0.44	-5.4083	19.8568	0.96762	0.0:1.0:0.0:0.0	.	151;132;178	B4DER1;F5H698;Q9P2J5	.;.;SYLC_HUMAN	Q	178;132;124;151	ENSP00000377954:E178Q;ENSP00000437791:E132Q;ENSP00000426005:E124Q;ENSP00000274562:E151Q	ENSP00000274562:E151Q	E	-	1	0	LARS	145524128	1.000000	0.71417	0.990000	0.47175	0.729000	0.41735	5.609000	0.67661	2.764000	0.94973	0.650000	0.86243	GAA	LARS	-	tigrfam_Leu-tRNA-synth_Ia_arc/euk	ENSG00000133706		0.383	LARS-001	KNOWN	basic|CCDS	protein_coding	LARS	HGNC	protein_coding	OTTHUMT00000373367.1	80	0.00	0	C	NM_020117		145543935	145543935	-1	no_errors	ENST00000394434	ensembl	human	known	69_37n	missense	50	35.06	27	SNP	1.000	G
LATS1	9113	genome.wustl.edu	37	6	150001092	150001092	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:150001092G>C	ENST00000543571.1	-	5	3059	c.2512C>G	c.(2512-2514)Cgt>Ggt	p.R838G	LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Missense_Mutation_p.R838G	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1											central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TGACCATCACGATCAATCAAA	0.358																																						dbGAP											0													79.0	80.0	80.0					6																	150001092		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"""LATS (large tumor suppressor, Drosophila) homolog 1"", ""LATS, large tumor suppressor, homolog 1 (Drosophila)"""			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.2512C>G	6.37:g.150001092G>C	ENSP00000437550:p.Arg838Gly	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/transl_elong_EF1B_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom	p.R838G	ENST00000543571.1	37	c.2512	CCDS34551.1	6	.	.	.	.	.	.	.	.	.	.	G	17.52	3.410364	0.62399	.	.	ENSG00000131023	ENST00000543571;ENST00000253339	T;T	0.65916	-0.18;-0.18	5.65	5.65	0.86999	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000013	T	0.48059	0.1479	N	0.25426	0.745	0.80722	D	1	B	0.34181	0.44	B	0.43103	0.408	T	0.44190	-0.9344	9	.	.	.	.	20.0781	0.97751	0.0:0.0:1.0:0.0	.	838	O95835	LATS1_HUMAN	G	838	ENSP00000437550:R838G;ENSP00000253339:R838G	.	R	-	1	0	LATS1	150042785	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.279000	0.72620	2.817000	0.96982	0.563000	0.77884	CGT	LATS1	-	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	ENSG00000131023		0.358	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LATS1	HGNC	protein_coding	OTTHUMT00000043923.4	81	0.00	0	G	NM_004690		150001092	150001092	-1	no_errors	ENST00000253339	ensembl	human	known	69_37n	missense	48	23.81	15	SNP	1.000	C
LATS1	9113	genome.wustl.edu	37	6	150005196	150005196	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:150005196C>T	ENST00000543571.1	-	4	1576	c.1029G>A	c.(1027-1029)ggG>ggA	p.G343G	LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000392273.3_Silent_p.G343G|LATS1_ENST00000253339.5_Silent_p.G343G	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1											central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TTCCAGGTCTCCCTGATGGAA	0.453																																						dbGAP											0													155.0	147.0	150.0					6																	150005196		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"""LATS (large tumor suppressor, Drosophila) homolog 1"", ""LATS, large tumor suppressor, homolog 1 (Drosophila)"""			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.1029G>A	6.37:g.150005196C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/transl_elong_EF1B_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom	p.G343	ENST00000543571.1	37	c.1029	CCDS34551.1	6																																																																																			LATS1	-	NULL	ENSG00000131023		0.453	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LATS1	HGNC	protein_coding	OTTHUMT00000043923.4	99	1.00	1	C	NM_004690		150005196	150005196	-1	no_errors	ENST00000253339	ensembl	human	known	69_37n	silent	102	18.25	23	SNP	1.000	T
LCE3B	353143	genome.wustl.edu	37	1	152586468	152586468	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:152586468G>A	ENST00000335633.1	+	1	182	c.182G>A	c.(181-183)tGc>tAc	p.C61Y		NM_178433.1	NP_848520.1	Q5TA77	LCE3B_HUMAN	late cornified envelope 3B	61	Cys-rich.				keratinization (GO:0031424)					large_intestine(1)|lung(2)|prostate(1)	4	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0313)|Kidney(5;0.0367)		CACAGGTGCTGCAGGTCCCAC	0.657																																						dbGAP											0													54.0	50.0	52.0					1																	152586468		1817	2703	4520	-	-	-	SO:0001583	missense	0				CCDS1016.1	1q21.3	2008-02-05			ENSG00000187238	ENSG00000187238		"""Late cornified envelopes"""	29462	protein-coding gene	gene with protein product		612614				11698679	Standard	NM_178433		Approved	LEP14	uc010pds.2	Q5TA77	OTTHUMG00000012395	ENST00000335633.1:c.182G>A	1.37:g.152586468G>A	ENSP00000335358:p.Cys61Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.C61Y	ENST00000335633.1	37	c.182	CCDS1016.1	1	.	.	.	.	.	.	.	.	.	.	G	0.021	-1.423832	0.01126	.	.	ENSG00000187238	ENST00000335633	T	0.03524	3.9	3.04	-0.294	0.12831	.	.	.	.	.	T	0.00384	0.0012	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44636	-0.9315	8	0.02654	T	1	.	3.1228	0.06397	0.3051:0.2255:0.4693:0.0	.	61	Q5TA77	LCE3B_HUMAN	Y	61	ENSP00000335358:C61Y	ENSP00000335358:C61Y	C	+	2	0	LCE3B	150853092	0.000000	0.05858	0.157000	0.22605	0.062000	0.15995	-0.981000	0.03766	-0.346000	0.08312	-0.369000	0.07265	TGC	LCE3B	-	NULL	ENSG00000187238		0.657	LCE3B-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LCE3B	HGNC	protein_coding	OTTHUMT00000034515.2	33	0.00	0	G	NM_178433		152586468	152586468	+1	no_errors	ENST00000335633	ensembl	human	novel	69_37n	missense	29	35.56	16	SNP	0.110	A
LCE2C	353140	genome.wustl.edu	37	1	152648635	152648635	+	Nonsense_Mutation	SNP	T	T	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:152648635T>A	ENST00000368783.1	+	2	199	c.144T>A	c.(142-144)tgT>tgA	p.C48*	LCE2B_ENST00000417924.2_Intron	NM_178429.2	NP_848516.1	Q5TA81	LCE2C_HUMAN	late cornified envelope 2C	48	Cys-rich.				keratinization (GO:0031424)					endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTCTTGCTGTGGTCCCAGCT	0.622																																						dbGAP											0													114.0	123.0	120.0					1																	152648635		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS1019.1	1q21.3	2008-02-05			ENSG00000187180	ENSG00000187180		"""Late cornified envelopes"""	29460	protein-coding gene	gene with protein product		612611				11698679	Standard	NM_178429		Approved	LEP11	uc001fah.4	Q5TA81	OTTHUMG00000012389	ENST00000368783.1:c.144T>A	1.37:g.152648635T>A	ENSP00000357772:p.Cys48*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	NULL	p.C48*	ENST00000368783.1	37	c.144	CCDS1019.1	1	.	.	.	.	.	.	.	.	.	.	T	10.76	1.442320	0.25987	.	.	ENSG00000187180	ENST00000368783	.	.	.	2.07	-4.14	0.03892	.	.	.	.	.	.	.	.	.	.	.	0.40938	D	0.984447	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	.	3.1726	0.06558	0.0:0.3286:0.2264:0.445	.	.	.	.	X	48	.	ENSP00000357772:C48X	C	+	3	2	LCE2C	150915259	0.001000	0.12720	0.723000	0.30687	0.346000	0.29079	-1.233000	0.02934	-1.184000	0.02720	0.254000	0.18369	TGT	LCE2C	-	NULL	ENSG00000187180		0.622	LCE2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCE2C	HGNC	protein_coding	OTTHUMT00000034509.1	139	0.00	0	T	NM_178429		152648635	152648635	+1	no_errors	ENST00000368783	ensembl	human	known	69_37n	nonsense	174	23.68	54	SNP	0.949	A
LCE1B	353132	genome.wustl.edu	37	1	152784994	152784994	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:152784994C>T	ENST00000360090.3	+	1	548	c.72C>T	c.(70-72)tgC>tgT	p.C24C		NM_178349.1	NP_848126.1	Q5T7P3	LCE1B_HUMAN	late cornified envelope 1B	24	Pro-rich.				keratinization (GO:0031424)					breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2)	18	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ctcccaagtgccTCACCCCTA	0.627																																						dbGAP											0													98.0	99.0	98.0					1																	152784994		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BI670515	CCDS1027.1	1q21.3	2008-02-05	2004-10-11	2004-10-15	ENSG00000196734	ENSG00000196734		"""Late cornified envelopes"""	16611	protein-coding gene	gene with protein product		612604	"""small proline rich-like (epidermal differentiation complex) 2A"""	SPRL2A		11698679	Standard	NM_178349		Approved	LEP2	uc001faq.3	Q5T7P3	OTTHUMG00000014402	ENST00000360090.3:c.72C>T	1.37:g.152784994C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A4IF40	Silent	SNP	NULL	p.C24	ENST00000360090.3	37	c.72	CCDS1027.1	1																																																																																			LCE1B	-	NULL	ENSG00000196734		0.627	LCE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCE1B	HGNC	protein_coding	OTTHUMT00000040060.1	174	0.00	0	C	NM_178349		152784994	152784994	+1	no_errors	ENST00000360090	ensembl	human	known	69_37n	silent	143	22.16	41	SNP	0.761	T
LCT	3938	genome.wustl.edu	37	2	136547151	136547151	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:136547151G>A	ENST00000264162.2	-	16	5563	c.5553C>T	c.(5551-5553)ctC>ctT	p.L1851L		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1851					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	CTGGCTGGTGGAGACAAGCGT	0.552																																						dbGAP											0													55.0	51.0	52.0					2																	136547151		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.5553C>T	2.37:g.136547151G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4ZG58	Silent	SNP	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.L1851	ENST00000264162.2	37	c.5553	CCDS2178.1	2																																																																																			LCT	-	superfamily_Glycoside_hydrolase_SF	ENSG00000115850		0.552	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCT	HGNC	protein_coding	OTTHUMT00000254657.1	43	0.00	0	G	NM_002299		136547151	136547151	-1	no_errors	ENST00000264162	ensembl	human	known	69_37n	silent	49	19.67	12	SNP	0.223	A
LDHAL6CP	121498	genome.wustl.edu	37	12	63397568	63397568	+	lincRNA	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:63397568C>A	ENST00000552996.1	-	0	1070				LDHAL6CP_ENST00000550738.1_RNA																							GGAACTGGATCAGTGGGCATG	0.483																																						dbGAP											0																																										-	-	-			0																															12.37:g.63397568C>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000552996.1	37	NULL		12																																																																																			LDHAL6CP	-	-	ENSG00000250517		0.483	RP11-848D3.5-001	KNOWN	basic	lincRNA	LDHAL6CP	HGNC	lincRNA	OTTHUMT00000406731.1	47	0.00	0	C			63397568	63397568	+1	no_errors	ENST00000550738	ensembl	human	known	69_37n	rna	56	17.65	12	SNP	1.000	A
LDOC1	23641	genome.wustl.edu	37	X	140271168	140271168	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:140271168C>G	ENST00000370526.2	-	1	142	c.39G>C	c.(37-39)ctG>ctC	p.L13L	LDOC1_ENST00000460721.1_5'UTR	NM_012317.2	NP_036449.1	O95751	LDOC1_HUMAN	leucine zipper, down-regulated in cancer 1	13					negative regulation of cell proliferation (GO:0008285)	nucleus (GO:0005634)				endometrium(6)|large_intestine(1)|lung(6)|ovary(1)	14	Acute lymphoblastic leukemia(192;7.65e-05)					GGTGCCGCATCAGGAGCGCGT	0.672																																						dbGAP											0													27.0	22.0	23.0					X																	140271168		2202	4296	6498	-	-	-	SO:0001819	synonymous_variant	0			AB019527	CCDS14672.1	Xq27	2008-02-05			ENSG00000182195	ENSG00000182195			6548	protein-coding gene	gene with protein product		300402		BCUR1		10403563, 15716091, 16093683	Standard	NM_012317		Approved	Mar7, Mart7	uc004fbj.3	O95751	OTTHUMG00000022558	ENST00000370526.2:c.39G>C	X.37:g.140271168C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IAR6	Silent	SNP	NULL	p.L13	ENST00000370526.2	37	c.39	CCDS14672.1	X																																																																																			LDOC1	-	NULL	ENSG00000182195		0.672	LDOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LDOC1	HGNC	protein_coding	OTTHUMT00000058592.1	12	0.00	0	C	NM_012317		140271168	140271168	-1	no_errors	ENST00000370526	ensembl	human	known	69_37n	silent	9	30.77	4	SNP	0.996	G
LEMD2	221496	genome.wustl.edu	37	6	33740464	33740464	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:33740464C>G	ENST00000293760.5	-	9	1472	c.1453G>C	c.(1453-1455)Gag>Cag	p.E485Q	LEMD2_ENST00000508327.1_Missense_Mutation_p.E183Q	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN	LEM domain containing 2	485					negative regulation of MAPK cascade (GO:0043409)|skeletal muscle cell differentiation (GO:0035914)	integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear membrane (GO:0031965)				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						AGCATGTCCTCTCCTGCAACG	0.612																																						dbGAP											0													78.0	61.0	67.0					6																	33740464		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4785.1, CCDS47411.1	6p21.31	2009-11-06			ENSG00000161904	ENSG00000161904			21244	protein-coding gene	gene with protein product						12477932	Standard	NM_001143944		Approved	dJ482C21.1, NET25	uc011drm.2	Q8NC56	OTTHUMG00000014535	ENST00000293760.5:c.1453G>C	6.37:g.33740464C>G	ENSP00000293760:p.Glu485Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DVH5|E7EVT2|Q5T972|Q5T974	Missense_Mutation	SNP	pfam_Inner-Nucl-membr_MAN1,pfam_LEM,superfamily_LEM-like_dom,smart_LEM,pfscan_LEM	p.E485Q	ENST00000293760.5	37	c.1453	CCDS4785.1	6	.	.	.	.	.	.	.	.	.	.	C	34	5.321065	0.95682	.	.	ENSG00000161904	ENST00000506578;ENST00000293760;ENST00000508327	.	.	.	5.35	5.35	0.76521	Inner nuclear membrane protein MAN1 (1);	0.000000	0.64402	D	0.000008	T	0.74504	0.3725	M	0.68317	2.08	0.49051	D	0.999747	D;D	0.76494	0.999;0.982	D;P	0.83275	0.996;0.871	T	0.75255	-0.3382	9	0.52906	T	0.07	-6.6259	19.064	0.93103	0.0:1.0:0.0:0.0	.	485;446	Q8NC56;A8MS91	LEMD2_HUMAN;.	Q	67;485;183	.	ENSP00000293760:E485Q	E	-	1	0	LEMD2	33848442	1.000000	0.71417	0.982000	0.44146	0.932000	0.56968	6.876000	0.75556	2.477000	0.83638	0.563000	0.77884	GAG	LEMD2	-	pfam_Inner-Nucl-membr_MAN1	ENSG00000161904		0.612	LEMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEMD2	HGNC	protein_coding	OTTHUMT00000040209.3	21	0.00	0	C	XM_166338		33740464	33740464	-1	no_errors	ENST00000293760	ensembl	human	known	69_37n	missense	39	30.36	17	SNP	1.000	G
LEPRE1	64175	genome.wustl.edu	37	1	43218318	43218318	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:43218318C>T	ENST00000296388.5	-	9	1414	c.1363G>A	c.(1363-1365)Gaa>Aaa	p.E455K	LEPRE1_ENST00000236040.4_Missense_Mutation_p.E455K|LEPRE1_ENST00000397054.3_Missense_Mutation_p.E455K			Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	455					bone development (GO:0060348)|cell growth (GO:0016049)|chaperone-mediated protein folding (GO:0061077)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein hydroxylation (GO:0018126)|protein stabilization (GO:0050821)|regulation of ossification (GO:0030278)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)|protein complex binding (GO:0032403)			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CTGATGCCTTCATACAGCAGG	0.517																																						dbGAP											0													82.0	69.0	74.0					1																	43218318		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK027648	CCDS472.2, CCDS53307.1, CCDS57986.1	1p34.1	2014-09-17			ENSG00000117385	ENSG00000117385			19316	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 1"", ""growth suppressor 1"""	610339				10951563	Standard	NM_022356		Approved	GROS1, P3H1, LEPRECAN, MGC117314	uc001chx.4	Q32P28	OTTHUMG00000007525	ENST00000296388.5:c.1363G>A	1.37:g.43218318C>T	ENSP00000296388:p.Glu455Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7KZR4|Q96BR8|Q96SK8|Q96SL5|Q96SN3|Q9H6K3|Q9HC86|Q9HC87	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.E455K	ENST00000296388.5	37	c.1363	CCDS472.2	1	.	.	.	.	.	.	.	.	.	.	c	19.49	3.836931	0.71373	.	.	ENSG00000117385	ENST00000397054;ENST00000236040;ENST00000296388;ENST00000540027	T;T;T	0.69306	-0.39;-0.39;-0.39	4.96	4.96	0.65561	.	0.278420	0.40222	N	0.001159	T	0.64649	0.2617	L	0.58810	1.83	0.44807	D	0.997815	B;B;B	0.18610	0.029;0.0;0.005	B;B;B	0.17979	0.02;0.002;0.004	T	0.64635	-0.6361	10	0.66056	D	0.02	-7.2661	15.7411	0.77899	0.0:1.0:0.0:0.0	.	455;320;455	Q32P28-3;B4DNM8;Q32P28	.;.;P3H1_HUMAN	K	455;455;455;320	ENSP00000380245:E455K;ENSP00000236040:E455K;ENSP00000296388:E455K	ENSP00000236040:E455K	E	-	1	0	LEPRE1	42990905	0.988000	0.35896	0.968000	0.41197	0.831000	0.47069	2.953000	0.49105	2.595000	0.87683	0.457000	0.33378	GAA	LEPRE1	-	NULL	ENSG00000117385		0.517	LEPRE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LEPRE1	HGNC	protein_coding	OTTHUMT00000019790.2	57	0.00	0	C	NM_022356		43218318	43218318	-1	no_errors	ENST00000236040	ensembl	human	known	69_37n	missense	43	15.69	8	SNP	0.907	T
LEPR	3953	genome.wustl.edu	37	1	66036405	66036405	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:66036405G>C	ENST00000349533.6	+	4	475	c.290G>C	c.(289-291)aGa>aCa	p.R97T	LEPR_ENST00000371059.3_Missense_Mutation_p.R97T|LEPR_ENST00000344610.8_Missense_Mutation_p.R97T|LEPR_ENST00000406510.3_5'UTR|snoU13_ENST00000459362.1_RNA|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000371058.1_Missense_Mutation_p.R97T|LEPR_ENST00000371060.3_Missense_Mutation_p.R97T	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)	p.R97I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GAGCAAGATAGAAACTGCTCC	0.343																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											81.0	81.0	81.0					1																	66036405		2203	4300	6503	-	-	-	SO:0001583	missense	0			U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.290G>C	1.37:g.66036405G>C	ENSP00000330393:p.Arg97Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6FHL5	Missense_Mutation	SNP	pfam_IgC2-like_lig-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.R97T	ENST00000349533.6	37	c.290	CCDS631.1	1	.	.	.	.	.	.	.	.	.	.	G	1.083	-0.666399	0.03428	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	T;T;T;T;T	0.53640	0.63;0.65;0.64;0.61;0.63	5.69	2.03	0.26663	.	0.677457	0.15206	N	0.274715	T	0.07593	0.0191	N	0.08118	0	0.80722	D	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.0;0.0;0.0;0.003	T	0.25082	-1.0142	10	0.15952	T	0.53	-1.6603	2.3012	0.04162	0.598:0.1622:0.0847:0.1551	.	97;97;97;97	P48357-4;P48357;P48357-2;P48357-3	.;LEPR_HUMAN;.;.	T	97	ENSP00000340884:R97T;ENSP00000330393:R97T;ENSP00000360099:R97T;ENSP00000360098:R97T;ENSP00000360097:R97T	ENSP00000340884:R97T	R	+	2	0	LEPR	65808993	0.049000	0.20398	0.793000	0.32043	0.106000	0.19336	-0.050000	0.11904	0.089000	0.17243	-1.394000	0.01149	AGA	LEPR	-	NULL	ENSG00000116678		0.343	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEPR	HGNC	protein_coding	OTTHUMT00000025275.1	89	0.00	0	G	NM_002303		66036405	66036405	+1	no_errors	ENST00000349533	ensembl	human	known	69_37n	missense	50	21.88	14	SNP	0.969	C
LEPREL1	55214	genome.wustl.edu	37	3	189706747	189706747	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:189706747C>G	ENST00000319332.5	-	4	1101	c.904G>C	c.(904-906)Gag>Cag	p.E302Q	LEPREL1_ENST00000427335.2_Missense_Mutation_p.E121Q	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	302					collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|peptidyl-proline hydroxylation (GO:0019511)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	AGAAAATTCTCGATGGGAGAG	0.498																																						dbGAP											0													102.0	96.0	98.0					3																	189706747		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3294.1, CCDS46981.1	3q29	2014-01-28			ENSG00000090530	ENSG00000090530	1.14.11.7		19317	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 2"""	610341				15063763, 21885030	Standard	NM_018192		Approved	FLJ10718, MLAT4, P3H2	uc011bsk.2	Q8IVL5	OTTHUMG00000156312	ENST00000319332.5:c.904G>C	3.37:g.189706747C>G	ENSP00000316881:p.Glu302Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KPK0|B3KWI9|D3DNV8|Q9NVI2	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.E302Q	ENST00000319332.5	37	c.904	CCDS3294.1	3	.	.	.	.	.	.	.	.	.	.	C	21.9	4.217310	0.79352	.	.	ENSG00000090530	ENST00000319332;ENST00000427335;ENST00000444866;ENST00000426003	T;T;T;T	0.54675	0.56;0.56;0.56;0.56	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.70919	0.3279	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.68108	-0.5496	9	.	.	.	-25.7453	18.9929	0.92801	0.0:1.0:0.0:0.0	.	302	Q8IVL5	P3H2_HUMAN	Q	302;121;121;121	ENSP00000316881:E302Q;ENSP00000408947:E121Q;ENSP00000391374:E121Q;ENSP00000394326:E121Q	.	E	-	1	0	LEPREL1	191189441	1.000000	0.71417	0.968000	0.41197	0.506000	0.33950	7.292000	0.78731	2.799000	0.96334	0.650000	0.86243	GAG	LEPREL1	-	NULL	ENSG00000090530		0.498	LEPREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEPREL1	HGNC	protein_coding	OTTHUMT00000343855.1	76	0.00	0	C	NM_018192		189706747	189706747	-1	no_errors	ENST00000319332	ensembl	human	known	69_37n	missense	69	22.47	20	SNP	1.000	G
LGI1	9211	genome.wustl.edu	37	10	95549886	95549886	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:95549886C>T	ENST00000371418.4	+	5	722	c.462C>T	c.(460-462)ctC>ctT	p.L154L	LGI1_ENST00000371413.3_Silent_p.L154L|LGI1_ENST00000542308.1_Silent_p.L106L	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	154			L -> P (in ETL1).		axon guidance (GO:0007411)|cell proliferation (GO:0008283)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)|positive regulation of cell growth (GO:0030307)|positive regulation of synaptic transmission (GO:0050806)|protein homooligomerization (GO:0051260)	cell junction (GO:0030054)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|synapse (GO:0045202)	receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				TCCAGACACTCCCAAAAGATA	0.323																																						dbGAP											0													53.0	56.0	55.0					10																	95549886		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AF055636	CCDS7431.1	10q24	2008-08-01	2002-06-05		ENSG00000108231	ENSG00000108231			6572	protein-coding gene	gene with protein product		604619	"""epilepsy, partial"""	EPT		9879993, 11978770, 15079011	Standard	NM_005097		Approved	IB1099, ETL1, EPITEMPIN	uc001kjc.4	O95970	OTTHUMG00000018777	ENST00000371418.4:c.462C>T	10.37:g.95549886C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0Z1|B4E1S0|Q5W001|Q5W002|Q8NI23|Q96LF5	Silent	SNP	pfam_EPTP,pfam_Leu-rich_rpt,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR	p.L154	ENST00000371418.4	37	c.462	CCDS7431.1	10																																																																																			LGI1	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000108231		0.323	LGI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGI1	HGNC	protein_coding	OTTHUMT00000049445.1	97	0.00	0	C	NM_005097		95549886	95549886	+1	no_errors	ENST00000371418	ensembl	human	known	69_37n	silent	44	30.16	19	SNP	1.000	T
LGR4	55366	genome.wustl.edu	37	11	27390284	27390284	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:27390284G>A	ENST00000379214.4	-	18	2429	c.1986C>T	c.(1984-1986)ttC>ttT	p.F662F	LGR4_ENST00000389858.4_Silent_p.F638F	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	662					bone mineralization (GO:0030282)|bone remodeling (GO:0046849)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cell differentiation involved in metanephros development (GO:0072202)|epithelial cell proliferation (GO:0050673)|innate immune response (GO:0045087)|male genitalia development (GO:0030539)|metanephric glomerulus development (GO:0072224)|metanephric nephron tubule morphogenesis (GO:0072282)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						CAGCAACCCGGAACTGTTTGA	0.418																																						dbGAP											0													89.0	86.0	87.0					11																	27390284		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			AF257182	CCDS31449.1	11p14-p13	2012-08-21	2011-01-25	2004-11-12	ENSG00000205213	ENSG00000205213		"""GPCR / Class A : Orphans"""	13299	protein-coding gene	gene with protein product		606666	"""G protein-coupled receptor 48"", ""leucine-rich repeat-containing G protein-coupled receptor 4"""	GPR48		10894923	Standard	NM_018490		Approved		uc001mrj.4	Q9BXB1	OTTHUMG00000133508	ENST00000379214.4:c.1986C>T	11.37:g.27390284G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NCH3|G5E9B3|Q8N537|Q9NYD1	Silent	SNP	pfam_Leu-rich_rpt,pfam_7TM_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pfscan_GPCR_Rhodpsn_supfam,prints_Gphrmn_rcpt,prints_7TM_GPCR_Rhodpsn	p.F662	ENST00000379214.4	37	c.1986	CCDS31449.1	11																																																																																			LGR4	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000205213		0.418	LGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGR4	HGNC	protein_coding	OTTHUMT00000257467.1	79	0.00	0	G	NM_018490		27390284	27390284	-1	no_errors	ENST00000379214	ensembl	human	known	69_37n	silent	81	17.35	17	SNP	0.961	A
LGR6	59352	genome.wustl.edu	37	1	202172978	202172978	+	Intron	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:202172978C>G	ENST00000367278.3	+	1	301				LGR6_ENST00000255432.7_Missense_Mutation_p.Q11E	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6						G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						ACTTGTTTGTCAAGTGTCAAT	0.498																																						dbGAP											0													117.0	100.0	106.0					1																	202172978		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"""GPCR / Class A : Orphans"""	19719	protein-coding gene	gene with protein product		606653	"""leucine-rich repeat-containing G protein-coupled receptor 6"""			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.212+9649C>G	1.37:g.202172978C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_7TM_GPCR_Rhodpsn,smart_Leu-rich_rpt_typical-subtyp,prints_Gphrmn_rcpt,prints_7TM_GPCR_Rhodpsn	p.Q11E	ENST00000367278.3	37	c.31	CCDS30971.1	1	.	.	.	.	.	.	.	.	.	.	C	4.105	0.017551	0.07959	.	.	ENSG00000133067	ENST00000255432	T	0.51071	0.72	2.89	-5.78	0.02362	.	.	.	.	.	T	0.19927	0.0479	N	0.08118	0	0.09310	N	0.999999	B	0.19073	0.033	B	0.08055	0.003	T	0.11941	-1.0567	9	0.54805	T	0.06	.	2.5108	0.04656	0.196:0.454:0.2178:0.1322	.	11	Q9HBX8-2	.	E	11	ENSP00000255432:Q11E	ENSP00000255432:Q11E	Q	+	1	0	LGR6	200439601	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.473000	0.06615	-1.683000	0.01444	-0.391000	0.06502	CAA	LGR6	-	NULL	ENSG00000133067		0.498	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGR6	HGNC	protein_coding	OTTHUMT00000099143.1	78	0.00	0	C	NM_021636		202172978	202172978	+1	no_errors	ENST00000255432	ensembl	human	known	69_37n	missense	64	36.00	36	SNP	0.000	G
LHCGR	3973	genome.wustl.edu	37	2	48915911	48915911	+	Missense_Mutation	SNP	C	C	G	rs149957775		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:48915911C>G	ENST00000294954.7	-	11	1046	c.1025G>C	c.(1024-1026)cGa>cCa	p.R342P	LHCGR_ENST00000401907.1_Intron|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000405626.1_Missense_Mutation_p.R315P|LHCGR_ENST00000344775.3_Missense_Mutation_p.R280P|LHCGR_ENST00000403273.1_Intron	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	342					activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	AGGAGCACATCGGGGTGTCTT	0.428																																						dbGAP											0													135.0	134.0	134.0					2																	48915911		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"""GPCR / Class A : Gonadotropin and TSH receptors"""	6585	protein-coding gene	gene with protein product		152790	"""hypergonadotropic hypogonadism"""	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.1025G>C	2.37:g.48915911C>G	ENSP00000294954:p.Arg342Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14751|Q15996|Q9UEW9	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_LSH_rcpt,prints_Gphrmn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_TSH_rcpt	p.R342P	ENST00000294954.7	37	c.1025	CCDS1842.1	2	.	.	.	.	.	.	.	.	.	.	C	10.45	1.354930	0.24512	.	.	ENSG00000138039	ENST00000344775;ENST00000294954;ENST00000405626	T;T;T	0.76316	-1.01;-0.84;-0.91	5.91	2.04	0.26737	.	0.577307	0.18722	N	0.132993	T	0.67277	0.2876	L	0.50333	1.59	0.09310	N	1	P	0.42518	0.782	B	0.39617	0.305	T	0.56884	-0.7905	9	.	.	.	.	5.4419	0.16513	0.0:0.4443:0.1453:0.4104	.	342	P22888	LSHR_HUMAN	P	280;342;315	ENSP00000344301:R280P;ENSP00000294954:R342P;ENSP00000386033:R315P	.	R	-	2	0	LHCGR	48769415	0.002000	0.14202	0.835000	0.33067	0.997000	0.91878	-0.021000	0.12504	0.085000	0.17107	0.655000	0.94253	CGA	LHCGR	-	prints_LSH_rcpt	ENSG00000138039		0.428	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LHCGR	HGNC	protein_coding	OTTHUMT00000251364.4	105	0.00	0	C	NM_000233.3		48915911	48915911	-1	no_errors	ENST00000294954	ensembl	human	known	69_37n	missense	83	18.63	19	SNP	0.013	G
LHX9	56956	genome.wustl.edu	37	1	197898305	197898305	+	Silent	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:197898305C>A	ENST00000367387.4	+	5	1535	c.1110C>A	c.(1108-1110)atC>atA	p.I370I	LHX9_ENST00000367390.3_Silent_p.I361I|LHX9_ENST00000337020.2_Intron|LHX9_ENST00000561173.1_Intron|LHX9_ENST00000367391.1_Intron	NM_020204.2	NP_064589.2	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	370					cell proliferation (GO:0008283)|female gonad development (GO:0008585)|gonad morphogenesis (GO:0035262)|male gonad development (GO:0008584)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						ATCCCACTATCACTGTAGTGA	0.527																																						dbGAP											0													82.0	84.0	83.0					1																	197898305		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ277915	CCDS1393.1, CCDS30962.1	1q31.1	2011-06-20			ENSG00000143355	ENSG00000143355		"""Homeoboxes / LIM class"""	14222	protein-coding gene	gene with protein product		606066					Standard	NM_020204		Approved		uc001guk.1	Q9NQ69	OTTHUMG00000035656	ENST00000367387.4:c.1110C>A	1.37:g.197898305C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VUE2|Q5VUE3|Q5VUE6|Q86UH2|Q9BYU6|Q9NQ70	Silent	SNP	pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain	p.I370	ENST00000367387.4	37	c.1110	CCDS1393.1	1																																																																																			LHX9	-	NULL	ENSG00000143355		0.527	LHX9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LHX9	HGNC	protein_coding	OTTHUMT00000086547.2	47	0.00	0	C	NM_020204		197898305	197898305	+1	no_errors	ENST00000367387	ensembl	human	known	69_37n	silent	33	17.50	7	SNP	1.000	A
RPL9	6133	genome.wustl.edu	37	4	39462576	39462576	+	5'Flank	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:39462576G>A	ENST00000449470.2	-	0	0				LIAS_ENST00000381846.1_Missense_Mutation_p.G71E|LIAS_ENST00000513731.1_Missense_Mutation_p.G71E|LIAS_ENST00000515061.1_3'UTR|RPL9_ENST00000295955.9_5'Flank|LIAS_ENST00000261434.3_Missense_Mutation_p.G71E|LIAS_ENST00000340169.2_Missense_Mutation_p.G71E	NM_001024921.2	NP_001020092.1	P32969	RL9_HUMAN	ribosomal protein L9						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 large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribosome (GO:0005840)	RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|skin(1)	8						CGCCAGAAAGGAGAAAGGTAA	0.368																																						dbGAP											0													54.0	60.0	58.0					4																	39462576		2203	4300	6503	-	-	-	SO:0001631	upstream_gene_variant	0			D14531	CCDS3452.1	4p13	2011-04-06			ENSG00000163682	ENSG00000163682		"""L ribosomal proteins"""	10369	protein-coding gene	gene with protein product		603686				8597601, 8415001	Standard	XM_005262661		Approved	L9	uc021sso.1	P32969	OTTHUMG00000099367		4.37:g.39462576G>A	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_rSAM,smart_Elp3/MiaB/NifB,pirsf_Lipoyl_synth,tigrfam_Lipoyl_synth	p.G71E	ENST00000449470.2	37	c.212	CCDS3452.1	4	.	.	.	.	.	.	.	.	.	.	G	25.4	4.639076	0.87760	.	.	ENSG00000121897	ENST00000340169;ENST00000261434;ENST00000513731;ENST00000381846	T;T;T;T	0.76186	-0.97;-0.97;-0.81;-1.0	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.77824	0.4188	N	0.25825	0.765	0.80722	D	1	D;B;D;D;D	0.89917	1.0;0.082;1.0;0.984;0.988	D;B;D;P;D	0.97110	1.0;0.086;1.0;0.898;0.909	T	0.68819	-0.5308	10	0.07482	T	0.82	-24.8619	19.6279	0.95687	0.0:0.0:1.0:0.0	.	71;71;71;71;71	B4E0L7;C9JCF6;D6RCP8;O43766;Q6P5Q6	.;.;.;LIAS_HUMAN;.	E	71	ENSP00000340676:G71E;ENSP00000261434:G71E;ENSP00000425580:G71E;ENSP00000371270:G71E	ENSP00000261434:G71E	G	+	2	0	LIAS	39138971	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.129000	0.94430	2.880000	0.98712	0.650000	0.86243	GGA	LIAS	-	pirsf_Lipoyl_synth,tigrfam_Lipoyl_synth	ENSG00000121897		0.368	RPL9-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LIAS	HGNC	protein_coding	OTTHUMT00000361018.1	31	0.00	0	G			39462576	39462576	+1	no_errors	ENST00000261434	ensembl	human	known	69_37n	missense	25	21.88	7	SNP	1.000	A
LIG1	3978	genome.wustl.edu	37	19	48631251	48631251	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:48631251G>A	ENST00000263274.7	-	20	2267	c.1848C>T	c.(1846-1848)ttC>ttT	p.F616F	LIG1_ENST00000427526.2_Silent_p.F585F|CTC-453G23.5_ENST00000596839.1_RNA|LIG1_ENST00000536218.1_Silent_p.F548F|CTC-453G23.5_ENST00000596563.1_RNA	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	616					anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	TGTCCAGGATGAAGGATGTGA	0.547								Nucleotide excision repair (NER)																														dbGAP											0													203.0	180.0	188.0					19																	48631251		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS12711.1, CCDS74409.1, CCDS74410.1	19q13.2-q13.3	2014-09-17				ENSG00000105486	6.5.1.1		6598	protein-coding gene	gene with protein product		126391					Standard	XM_005258934		Approved		uc002pia.1	P18858		ENST00000263274.7:c.1848C>T	19.37:g.48631251G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAI8|Q2TB12|Q32P23	Silent	SNP	pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_ATP-dep_C,superfamily_DNA_ligase_ATP-dep_N,superfamily_NA-bd_OB-fold-like,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep	p.F616	ENST00000263274.7	37	c.1848	CCDS12711.1	19																																																																																			LIG1	-	pfam_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep	ENSG00000105486		0.547	LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIG1	HGNC	protein_coding	OTTHUMT00000465575.1	95	0.00	0	G	NM_000234		48631251	48631251	-1	no_errors	ENST00000263274	ensembl	human	known	69_37n	silent	58	43.69	45	SNP	1.000	A
LIG3	3980	genome.wustl.edu	37	17	33310110	33310110	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:33310110G>A	ENST00000378526.4	+	2	219	c.86G>A	c.(85-87)tGg>tAg	p.W29*	LIG3_ENST00000586407.1_Intron|LIG3_ENST00000262327.5_Nonsense_Mutation_p.W29*	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	29					base-excision repair (GO:0006284)|base-excision repair, DNA ligation (GO:0006288)|DNA biosynthetic process (GO:0071897)|DNA repair (GO:0006281)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitochondrial DNA repair (GO:0043504)|negative regulation of DNA recombination (GO:0045910)|nucleotide-excision repair (GO:0006289)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	AAACATCACTGGCGTGATGTA	0.463								Other BER factors																														dbGAP											0													105.0	97.0	100.0					17																	33310110		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS11284.2, CCDS11285.2	17q11.2-q12	2008-10-29			ENSG00000005156	ENSG00000005156			6600	protein-coding gene	gene with protein product		600940	"""ligase II, DNA, ATP-dependent"""	LIG2		7760816	Standard	NM_002311		Approved		uc002hik.2	P49916	OTTHUMG00000128519	ENST00000378526.4:c.86G>A	17.37:g.33310110G>A	ENSP00000367787:p.Trp29*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16714|Q6NVK3	Nonsense_Mutation	SNP	pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_Znf_PARP,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold-like,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep	p.W29*	ENST00000378526.4	37	c.86	CCDS11284.2	17	.	.	.	.	.	.	.	.	.	.	G	15.33	2.802090	0.50315	.	.	ENSG00000005156	ENST00000378526;ENST00000262327	.	.	.	5.01	4.01	0.46588	.	0.539313	0.18944	N	0.126845	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.3591	9.5685	0.39414	0.0979:0.0:0.9021:0.0	.	.	.	.	X	29	.	ENSP00000262327:W29X	W	+	2	0	LIG3	30334223	0.040000	0.19996	0.750000	0.31169	0.095000	0.18619	0.683000	0.25349	2.622000	0.88805	0.655000	0.94253	TGG	LIG3	-	NULL	ENSG00000005156		0.463	LIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIG3	HGNC	protein_coding	OTTHUMT00000250330.3	111	0.00	0	G	NM_013975		33310110	33310110	+1	no_errors	ENST00000378526	ensembl	human	known	69_37n	nonsense	67	44.63	54	SNP	0.304	A
LIG3	3980	genome.wustl.edu	37	17	33319683	33319683	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:33319683C>T	ENST00000378526.4	+	8	1560	c.1427C>T	c.(1426-1428)tCg>tTg	p.S476L	LIG3_ENST00000262327.5_Missense_Mutation_p.S476L	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	476					base-excision repair (GO:0006284)|base-excision repair, DNA ligation (GO:0006288)|DNA biosynthetic process (GO:0071897)|DNA repair (GO:0006281)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitochondrial DNA repair (GO:0043504)|negative regulation of DNA recombination (GO:0045910)|nucleotide-excision repair (GO:0006289)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	GTCCAGGCCTCGCTGATGACA	0.622								Other BER factors																														dbGAP											0													55.0	48.0	50.0					17																	33319683		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11284.2, CCDS11285.2	17q11.2-q12	2008-10-29			ENSG00000005156	ENSG00000005156			6600	protein-coding gene	gene with protein product		600940	"""ligase II, DNA, ATP-dependent"""	LIG2		7760816	Standard	NM_002311		Approved		uc002hik.2	P49916	OTTHUMG00000128519	ENST00000378526.4:c.1427C>T	17.37:g.33319683C>T	ENSP00000367787:p.Ser476Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16714|Q6NVK3	Missense_Mutation	SNP	pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_Znf_PARP,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold-like,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep	p.S476L	ENST00000378526.4	37	c.1427	CCDS11284.2	17	.	.	.	.	.	.	.	.	.	.	C	23.1	4.372567	0.82573	.	.	ENSG00000005156	ENST00000378526;ENST00000262327	T;T	0.19394	2.15;2.15	5.5	5.5	0.81552	DNA ligase, ATP-dependent, N-terminal (2);	0.059458	0.64402	D	0.000001	T	0.24586	0.0596	M	0.66939	2.045	0.50313	D	0.999865	P;P;P	0.38922	0.651;0.651;0.607	B;B;B	0.28991	0.068;0.068;0.097	T	0.08106	-1.0738	10	0.66056	D	0.02	-8.3791	18.5685	0.91126	0.0:1.0:0.0:0.0	.	476;476;476	E5KLB5;P49916;E5KLB6	.;DNLI3_HUMAN;.	L	476	ENSP00000367787:S476L;ENSP00000262327:S476L	ENSP00000262327:S476L	S	+	2	0	LIG3	30343796	1.000000	0.71417	0.047000	0.18901	0.957000	0.61999	7.461000	0.80834	2.861000	0.98227	0.655000	0.94253	TCG	LIG3	-	superfamily_DNA_ligase_ATP-dep_N,tigrfam_DNA_ligase_ATP-dep	ENSG00000005156		0.622	LIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIG3	HGNC	protein_coding	OTTHUMT00000250330.3	38	0.00	0	C	NM_013975		33319683	33319683	+1	no_errors	ENST00000378526	ensembl	human	known	69_37n	missense	19	38.71	12	SNP	0.000	T
LILRB3	11025	genome.wustl.edu	37	19	54721331	54721331	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:54721331C>T	ENST00000391750.1	-	13	1742	c.1606G>A	c.(1606-1608)Gaa>Aaa	p.E536K	LILRA6_ENST00000440558.2_Missense_Mutation_p.E536K|LILRB3_ENST00000407860.2_Missense_Mutation_p.E553K|LILRA6_ENST00000419410.2_Missense_Mutation_p.E537K|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000270464.5_Missense_Mutation_p.E537K|LILRB3_ENST00000424807.1_Missense_Mutation_p.E536K|LILRB3_ENST00000346401.6_Missense_Mutation_p.E548K|LILRB3_ENST00000245620.9_Missense_Mutation_p.E537K|LILRB3_ENST00000469273.1_5'UTR			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	536					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGGGGTCTTCATCGTGTGGG	0.592																																						dbGAP											0													85.0	90.0	88.0					19																	54721331		2201	4300	6501	-	-	-	SO:0001583	missense	0			U91928	CCDS33105.1, CCDS46175.1	19q13.4	2013-01-11			ENSG00000204577	ENSG00000204577		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6607	protein-coding gene	gene with protein product		604820				9278324, 9382880	Standard	NM_006864		Approved	LIR-3, HL9, ILT5, LIR3, CD85a	uc002qee.1	O75022	OTTHUMG00000066626	ENST00000391750.1:c.1606G>A	19.37:g.54721331C>T	ENSP00000375630:p.Glu536Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	C9J1P3|C9JIP1|O15471|Q86U49	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E553K	ENST00000391750.1	37	c.1657	CCDS33105.1	19	.	.	.	.	.	.	.	.	.	.	C	15.01	2.707709	0.48412	.	.	ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000244482;ENSG00000244482;ENSG00000244482	ENST00000391750;ENST00000424807;ENST00000346401;ENST00000245620;ENST00000407860;ENST00000440558;ENST00000270464;ENST00000419410	T;T;T;T;T;T;T;T	0.00505	6.93;6.93;6.94;7.07;6.95;6.93;7.07;7.09	2.47	2.47	0.30058	.	.	.	.	.	T	0.01421	0.0046	M	0.75264	2.295	0.23030	N	0.998401	D;B;B;P;B;B;P	0.71674	0.998;0.058;0.052;0.875;0.022;0.035;0.935	D;B;B;P;B;B;P	0.77004	0.989;0.013;0.046;0.666;0.01;0.017;0.79	T	0.47699	-0.9097	9	0.59425	D	0.04	.	8.7319	0.34505	0.0:1.0:0.0:0.0	.	553;536;537;548;553;536;537	B5MCX0;F8WCY4;D3YTC4;F8W6G6;O75022-2;O75022;O75022-3	.;.;.;.;.;LIRB3_HUMAN;.	K	536;536;548;537;553;536;537;537	ENSP00000375630:E536K;ENSP00000412771:E536K;ENSP00000345184:E548K;ENSP00000245620:E537K;ENSP00000384274:E553K;ENSP00000390120:E536K;ENSP00000270464:E537K;ENSP00000411227:E537K	ENSP00000270464:E537K	E	-	1	0	LILRB3;LILRA6	59413143	0.000000	0.05858	0.002000	0.10522	0.011000	0.07611	0.596000	0.24044	1.744000	0.51775	0.413000	0.27773	GAA	LILRB3	-	NULL	ENSG00000204577		0.592	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LILRB3	HGNC	protein_coding	OTTHUMT00000142844.5	138	0.00	0	C	NM_006864		54721331	54721331	-1	no_errors	ENST00000407860	ensembl	human	known	69_37n	missense	109	16.79	22	SNP	0.003	T
LILRA4	23547	genome.wustl.edu	37	19	54848842	54848842	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:54848842C>T	ENST00000291759.4	-	5	837	c.781G>A	c.(781-783)Gat>Aat	p.D261N	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	261	Ig-like C2-type 3.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		GGGAGGCCATCGGCCCCCTCC	0.667																																						dbGAP											0													23.0	26.0	25.0					19																	54848842		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.781G>A	19.37:g.54848842C>T	ENSP00000291759:p.Asp261Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q32MC4	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like	p.D261N	ENST00000291759.4	37	c.781	CCDS12890.1	19	.	.	.	.	.	.	.	.	.	.	.	8.027	0.760942	0.15914	.	.	ENSG00000239961	ENST00000291759	T	0.12147	2.71	2.51	-4.13	0.03904	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	4.253080	0.00465	N	0.000105	T	0.13713	0.0332	L	0.49640	1.575	0.09310	N	1	B	0.34147	0.438	B	0.35470	0.203	T	0.27020	-1.0086	10	0.30854	T	0.27	.	7.1207	0.25442	0.1336:0.6032:0.2632:0.0	.	261	P59901	LIRA4_HUMAN	N	261	ENSP00000291759:D261N	ENSP00000291759:D261N	D	-	1	0	LILRA4	59540654	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.556000	0.00924	-0.645000	0.05458	-0.519000	0.04390	GAT	LILRA4	-	smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like	ENSG00000239961		0.667	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LILRA4	HGNC	protein_coding	OTTHUMT00000140229.2	27	0.00	0	C	NM_012276		54848842	54848842	-1	no_errors	ENST00000291759	ensembl	human	known	69_37n	missense	18	28.00	7	SNP	0.000	T
LIMA1	51474	genome.wustl.edu	37	12	50570855	50570855	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:50570855C>T	ENST00000341247.4	-	11	2421	c.2272G>A	c.(2272-2274)Gaa>Aaa	p.E758K	LIMA1_ENST00000552783.1_Missense_Mutation_p.E599K|LIMA1_ENST00000552909.1_Missense_Mutation_p.E597K|LIMA1_ENST00000394943.3_Missense_Mutation_p.E759K|LIMA1_ENST00000552823.1_Missense_Mutation_p.E598K|LIMA1_ENST00000547825.1_Missense_Mutation_p.E456K|LIMA1_ENST00000552491.1_Missense_Mutation_p.E455K	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	758					actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						TGTCACTCTTCATCCTCATCC	0.443																																						dbGAP											0													300.0	291.0	294.0					12																	50570855		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"""epithelial protein lost in neoplasm beta"""	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.2272G>A	12.37:g.50570855C>T	ENSP00000340184:p.Glu758Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.E759K	ENST00000341247.4	37	c.2275	CCDS8802.1	12	.	.	.	.	.	.	.	.	.	.	C	13.73	2.323349	0.41096	.	.	ENSG00000050405	ENST00000552491;ENST00000547825;ENST00000552823;ENST00000394943;ENST00000341247;ENST00000552783;ENST00000552909;ENST00000420992	D;D;D;D;D;D;D	0.87491	-1.54;-1.54;-1.86;-2.26;-1.53;-1.86;-1.86	6.02	5.13	0.70059	.	0.467866	0.23258	N	0.050167	D	0.90177	0.6930	M	0.65975	2.015	0.46131	D	0.998885	P;P;D	0.55800	0.954;0.954;0.973	P;P;P	0.51657	0.476;0.476;0.676	D	0.91078	0.4897	10	0.72032	D	0.01	.	16.7904	0.85588	0.1299:0.8701:0.0:0.0	.	768;758;597	Q59FE8;Q9UHB6;F8VQE1	.;LIMA1_HUMAN;.	K	455;456;598;759;758;599;597;677	ENSP00000448463:E455K;ENSP00000448706:E456K;ENSP00000450266:E598K;ENSP00000378400:E759K;ENSP00000340184:E758K;ENSP00000448779:E599K;ENSP00000450087:E597K	ENSP00000340184:E758K	E	-	1	0	LIMA1	48857122	1.000000	0.71417	0.987000	0.45799	0.013000	0.08279	5.241000	0.65384	1.550000	0.49438	-0.169000	0.13324	GAA	LIMA1	-	NULL	ENSG00000050405		0.443	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	LIMA1	HGNC	protein_coding	OTTHUMT00000406235.2	232	0.00	0	C	NM_016357		50570855	50570855	-1	no_errors	ENST00000394943	ensembl	human	known	69_37n	missense	214	15.08	38	SNP	1.000	T
LIMK2	3985	genome.wustl.edu	37	22	31662065	31662065	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:31662065G>A	ENST00000331728.4	+	8	1102	c.988G>A	c.(988-990)Gac>Aac	p.D330N	LIMK2_ENST00000406516.1_Missense_Mutation_p.D252N|LIMK2_ENST00000444929.2_Missense_Mutation_p.D84N|LIMK2_ENST00000340552.4_Missense_Mutation_p.D309N|LIMK2_ENST00000333611.4_Missense_Mutation_p.D309N	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	330					phosphorylation (GO:0016310)|spermatogenesis (GO:0007283)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						CCGGCCCTGTGACCTAATCCA	0.577																																						dbGAP											0													87.0	84.0	85.0					22																	31662065		2203	4300	6503	-	-	-	SO:0001583	missense	0			D45906	CCDS13891.1, CCDS13892.1, CCDS33637.1	22q12	2005-01-21			ENSG00000182541	ENSG00000182541			6614	protein-coding gene	gene with protein product		601988				8537403, 10591208	Standard	NM_005569		Approved		uc003akh.3	P53671	OTTHUMG00000151251	ENST00000331728.4:c.988G>A	22.37:g.31662065G>A	ENSP00000332687:p.Asp330Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6H5|Q7KZ80|Q7L3H5|Q96E10|Q99464|Q9UFU0	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Znf_LIM,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.D330N	ENST00000331728.4	37	c.988	CCDS13891.1	22	.	.	.	.	.	.	.	.	.	.	G	29.7	5.029341	0.93518	.	.	ENSG00000182541	ENST00000406516;ENST00000444929;ENST00000331728;ENST00000436394;ENST00000333611;ENST00000340552	D;D;D;D;D	0.89123	-2.47;-2.47;-2.47;-2.47;-2.47	5.15	4.12	0.48240	Protein kinase-like domain (1);	0.096477	0.64402	D	0.000001	D	0.94082	0.8103	M	0.79926	2.475	0.49483	D	0.999793	D;D;D;D;D	0.89917	0.999;0.998;1.0;1.0;0.991	D;D;D;D;P	0.78314	0.988;0.955;0.991;0.979;0.734	D	0.94718	0.7898	10	0.87932	D	0	-35.3655	14.2858	0.66245	0.0:0.0:0.85:0.15	.	362;309;84;330;252	F5GY29;Q7L3H5;E7EUC1;P53671;B5MC51	.;.;.;LIMK2_HUMAN;.	N	252;84;330;362;309;309	ENSP00000384602:D252N;ENSP00000409522:D84N;ENSP00000332687:D330N;ENSP00000330470:D309N;ENSP00000339916:D309N	ENSP00000332687:D330N	D	+	1	0	LIMK2	29992065	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.420000	0.97426	1.267000	0.44247	0.467000	0.42956	GAC	LIMK2	-	superfamily_Kinase-like_dom	ENSG00000182541		0.577	LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIMK2	HGNC	protein_coding	OTTHUMT00000321911.1	88	0.00	0	G	NM_016733		31662065	31662065	+1	no_errors	ENST00000331728	ensembl	human	known	69_37n	missense	122	31.07	55	SNP	1.000	A
LIN52	91750	genome.wustl.edu	37	14	74557976	74557976	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:74557976G>C	ENST00000555028.1	+	2	240	c.73G>C	c.(73-75)Gac>Cac	p.D25H	LIN52_ENST00000554076.1_3'UTR	NM_001024674.2	NP_001019845.1	Q52LA3	LIN52_HUMAN	lin-52 DREAM MuvB core complex component	25					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription, DNA-templated (GO:0006351)	DRM complex (GO:0070176)|nucleoplasm (GO:0005654)				breast(1)|endometrium(2)|lung(2)	5				BRCA - Breast invasive adenocarcinoma(234;0.00471)		TGAAAAACTTGACCGTGCCTC	0.368																																						dbGAP											0													119.0	118.0	119.0					14																	74557976		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK023979	CCDS32120.1	14q24.2	2014-07-17	2014-07-17	2007-01-03	ENSG00000205659	ENSG00000205659			19856	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 46"", ""lin-52 homolog (C. elegans)"""	C14orf46		17075059, 21498570	Standard	NM_001024674		Approved		uc001xpp.2	Q52LA3	OTTHUMG00000171204	ENST00000555028.1:c.73G>C	14.37:g.74557976G>C	ENSP00000451812:p.Asp25His	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_DREAM_Lin52	p.D25H	ENST00000555028.1	37	c.73	CCDS32120.1	14	.	.	.	.	.	.	.	.	.	.	G	22.9	4.353986	0.82243	.	.	ENSG00000205659	ENST00000555028;ENST00000381098;ENST00000554938	.	.	.	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.75406	0.3845	L	0.58428	1.81	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	T	0.77981	-0.2383	9	0.87932	D	0	-9.2374	14.7345	0.69406	0.0:0.0:1.0:0.0	.	25	Q52LA3	LIN52_HUMAN	H	57;25;25	.	ENSP00000370488:D25H	D	+	1	0	LIN52	73627729	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.271000	0.89883	2.460000	0.83146	0.591000	0.81541	GAC	LIN52	-	pfam_DREAM_Lin52	ENSG00000205659		0.368	LIN52-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	LIN52	HGNC	protein_coding	OTTHUMT00000412316.2	178	0.00	0	G			74557976	74557976	+1	no_errors	ENST00000555028	ensembl	human	known	69_37n	missense	124	20.51	32	SNP	1.000	C
LINC00283	100874057	genome.wustl.edu	37	13	103396623	103396623	+	RNA	SNP	A	A	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr13:103396623A>T	ENST00000430111.1	+	0	996									long intergenic non-protein coding RNA 283																		TCTAATGTATAGCTCCGGCTT	0.333																																						dbGAP											0													84.0	64.0	70.0					13																	103396623		692	1590	2282	-	-	-			0					13q33.1	2012-10-12	2011-08-10	2011-08-10	ENSG00000231633	ENSG00000231633		"""Long non-coding RNAs"""	38809	non-coding RNA	RNA, long non-coding			"""non-protein coding RNA 283"""	NCRNA00283			Standard			Approved				OTTHUMG00000017311		13.37:g.103396623A>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000430111.1	37	NULL		13																																																																																			LINC00283	-	-	ENSG00000231633		0.333	LINC00283-001	KNOWN	not_organism_supported|basic	antisense	LINC00283	HGNC	antisense	OTTHUMT00000045714.1	97	0.00	0	A			103396623	103396623	+1	no_errors	ENST00000430111	ensembl	human	known	69_37n	rna	102	12.07	14	SNP	0.000	T
LINGO1	84894	genome.wustl.edu	37	15	77907324	77907324	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:77907324C>G	ENST00000355300.6	-	2	1099	c.925G>C	c.(925-927)Gag>Cag	p.E309Q	LINGO1_ENST00000561030.1_Missense_Mutation_p.E303Q	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	309					central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						CGGAGCAGCTCATGCAACATG	0.632																																						dbGAP											0													56.0	57.0	57.0					15																	77907324		2168	4272	6440	-	-	-	SO:0001583	missense	0			AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"""Immunoglobulin superfamily / I-set domain containing"""	21205	protein-coding gene	gene with protein product		609791	"""leucine rich repeat neuronal 6A"""	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.925G>C	15.37:g.77907324C>G	ENSP00000347451:p.Glu309Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E309Q	ENST00000355300.6	37	c.925	CCDS45313.1	15	.	.	.	.	.	.	.	.	.	.	C	12.88	2.071882	0.36566	.	.	ENSG00000169783	ENST00000355300	T	0.79554	-1.28	5.34	5.34	0.76211	.	0.094343	0.64402	D	0.000001	T	0.68044	0.2958	N	0.11064	0.09	0.52501	D	0.999955	B	0.02656	0.0	B	0.04013	0.001	T	0.62134	-0.6918	10	0.38643	T	0.18	.	19.0471	0.93025	0.0:1.0:0.0:0.0	.	309	Q96FE5	LIGO1_HUMAN	Q	309	ENSP00000347451:E309Q	ENSP00000347451:E309Q	E	-	1	0	LINGO1	75694379	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.966000	0.63715	2.513000	0.84729	0.462000	0.41574	GAG	LINGO1	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000169783		0.632	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINGO1	HGNC	protein_coding	OTTHUMT00000419546.1	81	0.00	0	C	NM_032808		77907324	77907324	-1	no_errors	ENST00000355300	ensembl	human	known	69_37n	missense	74	25.25	25	SNP	1.000	G
LINGO1	84894	genome.wustl.edu	37	15	77907918	77907918	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:77907918C>T	ENST00000355300.6	-	2	505	c.331G>A	c.(331-333)Gag>Aag	p.E111K	LINGO1_ENST00000561030.1_Missense_Mutation_p.E105K	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	111					central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						GCGCCGGGCTCCACGGCGCTC	0.617																																						dbGAP											0													39.0	44.0	42.0					15																	77907918		2053	4188	6241	-	-	-	SO:0001583	missense	0			AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"""Immunoglobulin superfamily / I-set domain containing"""	21205	protein-coding gene	gene with protein product		609791	"""leucine rich repeat neuronal 6A"""	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.331G>A	15.37:g.77907918C>T	ENSP00000347451:p.Glu111Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E111K	ENST00000355300.6	37	c.331	CCDS45313.1	15	.	.	.	.	.	.	.	.	.	.	C	28.5	4.929422	0.92389	.	.	ENSG00000169783	ENST00000355300	T	0.80123	-1.34	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.89347	0.6689	M	0.69248	2.105	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89363	0.3669	10	0.62326	D	0.03	.	19.6704	0.95910	0.0:1.0:0.0:0.0	.	111	Q96FE5	LIGO1_HUMAN	K	111	ENSP00000347451:E111K	ENSP00000347451:E111K	E	-	1	0	LINGO1	75694973	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.815000	0.86186	2.659000	0.90383	0.561000	0.74099	GAG	LINGO1	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000169783		0.617	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINGO1	HGNC	protein_coding	OTTHUMT00000419546.1	44	0.00	0	C	NM_032808		77907918	77907918	-1	no_errors	ENST00000355300	ensembl	human	known	69_37n	missense	23	36.11	13	SNP	1.000	T
LIPE	3991	genome.wustl.edu	37	19	42930419	42930419	+	Splice_Site	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:42930419C>T	ENST00000244289.4	-	1	1159	c.883G>A	c.(883-885)Gcc>Acc	p.A295T	CTB-50E14.4_ENST00000596781.1_RNA|LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000457234.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	295					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				TCACACTCACCTGTATCCTGG	0.423																																						dbGAP											0													139.0	135.0	136.0					19																	42930419		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.883+1G>A	19.37:g.42930419C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3LRT2|Q6NSL7	Missense_Mutation	SNP	pfam_HSL_N,pfam_AB_hydrolase_3,pfam_Steryl_acetyl_hydrolase	p.A295T	ENST00000244289.4	37	c.883	CCDS12607.1	19	.	.	.	.	.	.	.	.	.	.	C	18.98	3.737009	0.69304	.	.	ENSG00000079435	ENST00000244289	T	0.03745	3.82	3.58	0.199	0.15175	.	1.011660	0.07962	N	0.982517	T	0.04724	0.0128	L	0.56769	1.78	0.24255	N	0.995309	B	0.31318	0.319	B	0.32864	0.154	T	0.43589	-0.9382	9	.	.	.	-2.0089	3.5815	0.07955	0.0:0.5496:0.212:0.2384	.	295	Q05469	LIPS_HUMAN	T	295	ENSP00000244289:A295T	.	A	-	1	0	LIPE	47622259	0.872000	0.30054	0.483000	0.27378	0.952000	0.60782	0.540000	0.23191	0.118000	0.18165	0.655000	0.94253	GCC	LIPE	-	NULL	ENSG00000079435		0.423	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPE	HGNC	protein_coding	OTTHUMT00000463861.1	80	0.00	0	C	NM_005357	Missense_Mutation	42930419	42930419	-1	no_errors	ENST00000244289	ensembl	human	known	69_37n	missense	81	20.59	21	SNP	0.560	T
LIPN	643418	genome.wustl.edu	37	10	90521992	90521992	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:90521992C>T	ENST00000404459.1	+	2	156	c.156C>T	c.(154-156)gtC>gtT	p.V52V		NM_001102469.1	NP_001095939.1	Q5VXI9	LIPN_HUMAN	lipase, family member N	52					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	9		Colorectal(252;0.0161)		Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05)		AGTATGAAGTCACCACTGAAG	0.423																																						dbGAP											0													70.0	68.0	69.0					10																	90521992		1902	4138	6040	-	-	-	SO:0001819	synonymous_variant	0				CCDS44456.1	10q23.31	2013-09-20	2007-02-27	2007-02-27	ENSG00000204020	ENSG00000204020			23452	protein-coding gene	gene with protein product		613924	"""lipase-like, ab-hydrolase domain containing 4"""	LIPL4			Standard	NM_001102469		Approved	bA186O14.3	uc010qmw.2	Q5VXI9	OTTHUMG00000018694	ENST00000404459.1:c.156C>T	10.37:g.90521992C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A7KIH9	Silent	SNP	pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1	p.V52	ENST00000404459.1	37	c.156	CCDS44456.1	10																																																																																			LIPN	-	pfam_AB_hydrolase_lipase	ENSG00000204020		0.423	LIPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPN	HGNC	protein_coding	OTTHUMT00000049254.2	68	0.00	0	C	XM_926751		90521992	90521992	+1	no_errors	ENST00000404459	ensembl	human	known	69_37n	silent	21	44.74	17	SNP	0.254	T
LIPN	643418	genome.wustl.edu	37	10	90537882	90537882	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:90537882G>C	ENST00000404459.1	+	9	1080	c.1080G>C	c.(1078-1080)aaG>aaC	p.K360N		NM_001102469.1	NP_001095939.1	Q5VXI9	LIPN_HUMAN	lipase, family member N	360					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	9		Colorectal(252;0.0161)		Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05)		CTCAAATCAAGAGTCTTCATT	0.468																																						dbGAP											0													121.0	114.0	116.0					10																	90537882		1925	4134	6059	-	-	-	SO:0001583	missense	0				CCDS44456.1	10q23.31	2013-09-20	2007-02-27	2007-02-27	ENSG00000204020	ENSG00000204020			23452	protein-coding gene	gene with protein product		613924	"""lipase-like, ab-hydrolase domain containing 4"""	LIPL4			Standard	NM_001102469		Approved	bA186O14.3	uc010qmw.2	Q5VXI9	OTTHUMG00000018694	ENST00000404459.1:c.1080G>C	10.37:g.90537882G>C	ENSP00000383923:p.Lys360Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A7KIH9	Missense_Mutation	SNP	pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1	p.K360N	ENST00000404459.1	37	c.1080	CCDS44456.1	10	.	.	.	.	.	.	.	.	.	.	G	8.459	0.854956	0.17106	.	.	ENSG00000204020	ENST00000404459	T	0.70869	-0.52	5.21	0.28	0.15682	Alpha/beta hydrolase fold-1 (1);	0.397901	0.24393	N	0.038904	T	0.47154	0.1430	N	0.21142	0.635	0.09310	N	0.999991	B	0.10296	0.003	B	0.13407	0.009	T	0.25779	-1.0122	10	0.44086	T	0.13	-5.5028	1.0139	0.01503	0.3313:0.2683:0.2642:0.1362	.	360	Q5VXI9	LIPN_HUMAN	N	360	ENSP00000383923:K360N	ENSP00000383923:K360N	K	+	3	2	LIPN	90527862	0.004000	0.15560	0.220000	0.23810	0.752000	0.42762	-0.214000	0.09292	-0.031000	0.13781	0.643000	0.83706	AAG	LIPN	-	pfam_AB_hydrolase_1	ENSG00000204020		0.468	LIPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPN	HGNC	protein_coding	OTTHUMT00000049254.2	83	0.00	0	G	XM_926751		90537882	90537882	+1	no_errors	ENST00000404459	ensembl	human	known	69_37n	missense	50	35.06	27	SNP	0.222	C
LMAN2L	81562	genome.wustl.edu	37	2	97378855	97378855	+	Intron	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:97378855G>C	ENST00000264963.4	-	5	530				LMAN2L_ENST00000426463.2_Missense_Mutation_p.P32A|LMAN2L_ENST00000534882.1_Intron|LMAN2L_ENST00000377079.4_Missense_Mutation_p.P177A|LMAN2L_ENST00000537039.1_Intron	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like						ER to Golgi vesicle-mediated transport (GO:0006888)|protein folding (GO:0006457)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						TGGACTCCTGGAGAATATCGC	0.493																																						dbGAP											0													144.0	125.0	131.0					2																	97378855		692	1591	2283	-	-	-	SO:0001627	intron_variant	0			AL136617	CCDS2023.1, CCDS46365.1	2q11.1	2008-02-05			ENSG00000114988	ENSG00000114988			19263	protein-coding gene	gene with protein product		609552				12609988	Standard	NM_001142292		Approved	DKFZp564L2423, VIPL	uc002swv.3	Q9H0V9	OTTHUMG00000130453	ENST00000264963.4:c.508-1093C>G	2.37:g.97378855G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DSH3|D3DXH6|Q53GV3|Q53S67|Q63HN6|Q8NBQ6|Q9BQ14	Missense_Mutation	SNP	pfam_Lectin_leg,superfamily_ConA-like_lec_gl	p.P177A	ENST00000264963.4	37	c.529	CCDS2023.1	2	.	.	.	.	.	.	.	.	.	.	G	15.13	2.741981	0.49151	.	.	ENSG00000114988	ENST00000377079;ENST00000426463	T;T	0.77877	0.01;-1.13	5.62	5.62	0.85841	.	0.261323	0.31335	N	0.007823	T	0.67776	0.2929	L	0.43923	1.385	0.80722	D	1	B;B;B	0.33345	0.245;0.409;0.356	B;B;B	0.34489	0.067;0.184;0.115	T	0.62992	-0.6736	10	0.07325	T	0.83	.	12.8586	0.57901	0.0:0.1636:0.8364:0.0	.	39;32;177	B4DI83;B4DSH3;Q9H0V9-2	.;.;.	A	177;32	ENSP00000366280:P177A;ENSP00000396391:P32A	ENSP00000366280:P177A	P	-	1	0	LMAN2L	96742582	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.212000	0.58514	2.648000	0.89879	0.467000	0.42956	CCA	LMAN2L	-	pfam_Lectin_leg,superfamily_ConA-like_lec_gl	ENSG00000114988		0.493	LMAN2L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LMAN2L	HGNC	protein_coding	OTTHUMT00000252844.1	49	0.00	0	G	NM_030805		97378855	97378855	-1	no_errors	ENST00000377079	ensembl	human	known	69_37n	missense	69	22.47	20	SNP	1.000	C
LMBRD2	92255	genome.wustl.edu	37	5	36117855	36117855	+	Silent	SNP	A	A	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:36117855A>G	ENST00000296603.4	-	10	1746	c.1284T>C	c.(1282-1284)taT>taC	p.Y428Y		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	428						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAATATAATTATATGTTTTTT	0.343																																						dbGAP											0													41.0	45.0	43.0					5																	36117855		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS34145.1	5p13.2	2008-02-05			ENSG00000164187	ENSG00000164187			25287	protein-coding gene	gene with protein product							Standard	NM_001007527		Approved	DKFZp434H2226	uc003jkb.1	Q68DH5	OTTHUMG00000162150	ENST00000296603.4:c.1284T>C	5.37:g.36117855A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KRB6|Q9NTC7	Silent	SNP	pfam_LMBR1-like_membr_prot	p.Y428	ENST00000296603.4	37	c.1284	CCDS34145.1	5																																																																																			LMBRD2	-	pfam_LMBR1-like_membr_prot	ENSG00000164187		0.343	LMBRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMBRD2	HGNC	protein_coding	OTTHUMT00000367552.1	62	0.00	0	A	NM_001007527		36117855	36117855	-1	no_errors	ENST00000296603	ensembl	human	known	69_37n	silent	51	20.31	13	SNP	1.000	G
LMNB2	84823	genome.wustl.edu	37	19	2434313	2434313	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:2434313G>C	ENST00000582871.1	-	7	1208	c.1122C>G	c.(1120-1122)ctC>ctG	p.L374L	LMNB2_ENST00000475819.1_5'Flank|LMNB2_ENST00000325327.3_Silent_p.L394L	NM_032737.3	NP_116126.3	Q03252	LMNB2_HUMAN	lamin B2	374	Coil 2.|Rod.					lamin filament (GO:0005638)|nuclear inner membrane (GO:0005637)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		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)		CGCCCTCCAGGAGCTTCCGGT	0.682																																						dbGAP											0													52.0	40.0	44.0					19																	2434313		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			M94362	CCDS12090.1, CCDS12090.2	19p13.3	2013-01-16			ENSG00000176619	ENSG00000176619		"""Intermediate filaments type V, lamins"""	6638	protein-coding gene	gene with protein product		150341		LMN2		1630457	Standard	NM_032737		Approved		uc002lvy.4	Q03252	OTTHUMG00000150626	ENST00000582871.1:c.1122C>G	19.37:g.2434313G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O75292|Q14734|Q96DF6	Silent	SNP	pfam_F,pfam_Lamin_tail_dom,superfamily_Prefoldin	p.L394	ENST00000582871.1	37	c.1182		19																																																																																			LMNB2	-	pfam_F	ENSG00000176619		0.682	LMNB2-201	KNOWN	basic|appris_principal	protein_coding	LMNB2	HGNC	protein_coding		32	0.00	0	G	NM_032737		2434313	2434313	-1	no_errors	ENST00000325327	ensembl	human	known	69_37n	silent	29	14.71	5	SNP	0.876	C
LMOD3	56203	genome.wustl.edu	37	3	69168802	69168802	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:69168802G>A	ENST00000420581.2	-	2	883	c.704C>T	c.(703-705)tCa>tTa	p.S235L	LMOD3_ENST00000489031.1_Missense_Mutation_p.S235L|LMOD3_ENST00000475434.1_Missense_Mutation_p.S235L	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	235						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		CTGGTTTCCTGAAGGCCTTGT	0.418																																						dbGAP											0													118.0	110.0	113.0					3																	69168802		1876	4113	5989	-	-	-	SO:0001583	missense	0			AK096900	CCDS46862.1	3p14.1	2003-03-07			ENSG00000163380	ENSG00000163380			6649	protein-coding gene	gene with protein product							Standard	NM_198271		Approved		uc003dns.2	Q0VAK6	OTTHUMG00000158774	ENST00000420581.2:c.704C>T	3.37:g.69168802G>A	ENSP00000414670:p.Ser235Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DT85|Q0JTT2|Q5JPG6|Q8IUK4|Q96LS4	Missense_Mutation	SNP	pfam_Tropomodulin	p.S235L	ENST00000420581.2	37	c.704	CCDS46862.1	3	.	.	.	.	.	.	.	.	.	.	G	24.3	4.511211	0.85389	.	.	ENSG00000163380	ENST00000420581;ENST00000489031;ENST00000475434	D;D;D	0.91945	-2.94;-2.94;-2.94	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	D	0.93038	0.7784	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.93310	0.6684	10	0.44086	T	0.13	-13.4738	18.8025	0.92023	0.0:0.0:1.0:0.0	.	235	Q0VAK6	LMOD3_HUMAN	L	235	ENSP00000414670:S235L;ENSP00000417210:S235L;ENSP00000418645:S235L	ENSP00000414670:S235L	S	-	2	0	LMOD3	69251492	1.000000	0.71417	0.998000	0.56505	0.952000	0.60782	9.869000	0.99810	2.443000	0.82685	0.591000	0.81541	TCA	LMOD3	-	NULL	ENSG00000163380		0.418	LMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMOD3	HGNC	protein_coding	OTTHUMT00000352138.1	112	0.00	0	G	XM_067529		69168802	69168802	-1	no_errors	ENST00000420581	ensembl	human	known	69_37n	missense	132	26.26	47	SNP	1.000	A
LMTK2	22853	genome.wustl.edu	37	7	97821193	97821193	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:97821193G>C	ENST00000297293.5	+	11	1709	c.1416G>C	c.(1414-1416)ctG>ctC	p.L472L		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	472					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)					GCCAGGGCCTGAGCTTCGAGT	0.587																																						dbGAP											0													56.0	53.0	54.0					7																	97821193		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			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.1416G>C	7.37:g.97821193G>C		Somatic		WXS	Illumina GAIIx	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.L472	ENST00000297293.5	37	c.1416	CCDS5654.1	7																																																																																			LMTK2	-	NULL	ENSG00000164715		0.587	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMTK2	HGNC	protein_coding	OTTHUMT00000334560.1	29	0.00	0	G	NM_014916		97821193	97821193	+1	no_errors	ENST00000297293	ensembl	human	known	69_37n	silent	35	20.45	9	SNP	0.998	C
LMTK2	22853	genome.wustl.edu	37	7	97822247	97822247	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:97822247G>A	ENST00000297293.5	+	11	2763	c.2470G>A	c.(2470-2472)Gaa>Aaa	p.E824K		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	824					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)					CGAAACAGAAGAAACGCCCCG	0.552																																						dbGAP											0													79.0	84.0	82.0					7																	97822247		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.2470G>A	7.37:g.97822247G>A	ENSP00000297293:p.Glu824Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D272|Q75MG7|Q9UPS3	Missense_Mutation	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.E824K	ENST00000297293.5	37	c.2470	CCDS5654.1	7	.	.	.	.	.	.	.	.	.	.	G	12.68	2.009803	0.35415	.	.	ENSG00000164715	ENST00000297293	T	0.79141	-1.24	5.77	4.9	0.64082	.	0.382752	0.32314	N	0.006271	T	0.56232	0.1971	N	0.12182	0.205	0.09310	N	1	B	0.31125	0.309	B	0.24541	0.054	T	0.46911	-0.9157	10	0.28530	T	0.3	.	8.7383	0.34541	0.1775:0.0:0.8225:0.0	.	824	Q8IWU2	LMTK2_HUMAN	K	824	ENSP00000297293:E824K	ENSP00000297293:E824K	E	+	1	0	LMTK2	97660183	0.551000	0.26497	0.009000	0.14445	0.390000	0.30446	1.836000	0.39191	1.586000	0.49944	0.655000	0.94253	GAA	LMTK2	-	NULL	ENSG00000164715		0.552	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMTK2	HGNC	protein_coding	OTTHUMT00000334560.1	51	0.00	0	G	NM_014916		97822247	97822247	+1	no_errors	ENST00000297293	ensembl	human	known	69_37n	missense	30	44.44	24	SNP	0.021	A
LMTK3	114783	genome.wustl.edu	37	19	49004371	49004371	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:49004371C>G	ENST00000600059.1	-	10	1260	c.1033G>C	c.(1033-1035)Gag>Cag	p.E345Q	LMTK3_ENST00000270238.3_Missense_Mutation_p.E374Q			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	345	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GCCCCAAACTCAAACAGCTCC	0.647																																						dbGAP											0													17.0	23.0	21.0					19																	49004371		1924	4122	6046	-	-	-	SO:0001583	missense	0			AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 101"""						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.1033G>C	19.37:g.49004371C>G	ENSP00000472020:p.Glu345Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G0U1	Missense_Mutation	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.E374Q	ENST00000600059.1	37	c.1120		19	.	.	.	.	.	.	.	.	.	.	C	28.2	4.901366	0.92035	.	.	ENSG00000142235	ENST00000270238	D	0.82803	-1.65	3.93	3.93	0.45458	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000002	D	0.87529	0.6200	L	0.47716	1.5	0.51482	D	0.999928	D	0.89917	1.0	D	0.91635	0.999	D	0.88761	0.3257	10	0.72032	D	0.01	.	13.8683	0.63603	0.0:1.0:0.0:0.0	.	345	Q96Q04	LMTK3_HUMAN	Q	374	ENSP00000270238:E374Q	ENSP00000270238:E374Q	E	-	1	0	LMTK3	53696183	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.339000	0.79282	1.935000	0.56089	0.456000	0.33151	GAG	LMTK3	-	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	ENSG00000142235		0.647	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	LMTK3	HGNC	protein_coding	OTTHUMT00000466137.1	15	0.00	0	C	NM_052895		49004371	49004371	-1	no_errors	ENST00000270238	ensembl	human	known	69_37n	missense	10	52.38	11	SNP	1.000	G
LNPEP	4012	genome.wustl.edu	37	5	96333778	96333778	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:96333778C>T	ENST00000231368.5	+	8	2274	c.1582C>T	c.(1582-1584)Cat>Tat	p.H528Y	LNPEP_ENST00000395770.3_Missense_Mutation_p.H514Y	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	528					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-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		AAATTCATCTCATCCAATATC	0.303																																						dbGAP											0													89.0	95.0	93.0					5																	96333778		2203	4295	6498	-	-	-	SO:0001583	missense	0			D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"""cystinyl aminopeptidase"", ""placental leucine aminopeptidase"""	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.1582C>T	5.37:g.96333778C>T	ENSP00000231368:p.His528Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.H528Y	ENST00000231368.5	37	c.1582	CCDS4087.1	5	.	.	.	.	.	.	.	.	.	.	C	30	5.053969	0.93793	.	.	ENSG00000113441	ENST00000231368;ENST00000395770	T;T	0.03212	4.01;4.01	6.17	6.17	0.99709	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.041485	0.85682	D	0.000000	T	0.32526	0.0832	H	0.96518	3.835	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.43410	-0.9393	10	0.87932	D	0	.	20.4745	0.99168	0.0:1.0:0.0:0.0	.	528	Q9UIQ6	LCAP_HUMAN	Y	528;514	ENSP00000231368:H528Y;ENSP00000379117:H514Y	ENSP00000231368:H528Y	H	+	1	0	LNPEP	96359534	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.374000	0.66167	2.941000	0.99782	0.655000	0.94253	CAT	LNPEP	-	pfam_Peptidase_M1_N	ENSG00000113441		0.303	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LNPEP	HGNC	protein_coding	OTTHUMT00000250624.1	94	0.00	0	C	NM_005575		96333778	96333778	+1	no_errors	ENST00000231368	ensembl	human	known	69_37n	missense	69	24.18	22	SNP	1.000	T
LNX2	222484	genome.wustl.edu	37	13	28127463	28127463	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr13:28127463C>T	ENST00000316334.3	-	8	1789	c.1660G>A	c.(1660-1662)Gag>Aag	p.E554K		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	554	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				protein homooligomerization (GO:0051260)		zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		ATCTGGACCTCAAGTGCTTTA	0.502																																						dbGAP											0													101.0	93.0	96.0					13																	28127463		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL138699	CCDS9323.1	13q12.2	2013-01-09	2004-01-22	2004-01-23	ENSG00000139517	ENSG00000139517		"""RING-type (C3HC4) zinc fingers"""	20421	protein-coding gene	gene with protein product		609733	"""PDZ domain containing ring finger 1"""	PDZRN1			Standard	NM_153371		Approved	MGC46315	uc001url.4	Q8N448	OTTHUMG00000016634	ENST00000316334.3:c.1660G>A	13.37:g.28127463C>T	ENSP00000325929:p.Glu554Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5W0P0|Q6ZMH2|Q96SH4	Missense_Mutation	SNP	pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING	p.E554K	ENST00000316334.3	37	c.1660	CCDS9323.1	13	.	.	.	.	.	.	.	.	.	.	C	36	5.812579	0.96975	.	.	ENSG00000139517	ENST00000316334	T	0.05580	3.42	6.1	6.1	0.99115	PDZ/DHR/GLGF (3);	0.000000	0.85682	D	0.000000	T	0.14917	0.0360	M	0.78637	2.42	0.80722	D	1	B	0.28783	0.222	B	0.30716	0.119	T	0.01266	-1.1401	10	0.45353	T	0.12	.	20.7146	0.99709	0.0:1.0:0.0:0.0	.	554	Q8N448	LNX2_HUMAN	K	554	ENSP00000325929:E554K	ENSP00000325929:E554K	E	-	1	0	LNX2	27025463	1.000000	0.71417	0.973000	0.42090	0.864000	0.49448	7.487000	0.81328	2.902000	0.99343	0.650000	0.86243	GAG	LNX2	-	superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000139517		0.502	LNX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LNX2	HGNC	protein_coding	OTTHUMT00000044302.2	62	0.00	0	C			28127463	28127463	-1	no_errors	ENST00000316334	ensembl	human	known	69_37n	missense	50	27.54	19	SNP	1.000	T
RPL36	25873	genome.wustl.edu	37	19	5692072	5692072	+	IGR	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:5692072G>A	ENST00000577222.1	+	0	874				LONP1_ENST00000590729.1_Nonsense_Mutation_p.Q821*|LONP1_ENST00000360614.3_Nonsense_Mutation_p.Q951*|LONP1_ENST00000540670.2_Nonsense_Mutation_p.Q755*|LONP1_ENST00000593119.1_Nonsense_Mutation_p.Q887*|LONP1_ENST00000585374.1_Nonsense_Mutation_p.Q837*			Q9Y3U8	RL36_HUMAN	ribosomal protein L36						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 large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|upper_aerodigestive_tract(1)	2						GCCTCTGCCTGCTCGTCCGGG	0.662																																						dbGAP											0													100.0	85.0	90.0					19																	5692072		2203	4300	6503	-	-	-	SO:0001628	intergenic_variant	0				CCDS12147.1	19p13.2	2011-04-06				ENSG00000130255		"""L ribosomal proteins"""	13631	protein-coding gene	gene with protein product							Standard	NM_033643		Approved	DKFZp566B023, L36	uc002mcv.3	Q9Y3U8			19.37:g.5692072G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R4Y1|D6W634|Q6FIG1|Q9UQF6	Nonsense_Mutation	SNP	pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Prk_AAA_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Pept_S16_lon	p.Q951*	ENST00000577222.1	37	c.2851	CCDS12147.1	19	.	.	.	.	.	.	.	.	.	.	G	35	5.534783	0.96460	.	.	ENSG00000196365	ENST00000360614;ENST00000358403;ENST00000540670	.	.	.	3.6	-1.84	0.07809	.	2.915000	0.01252	N	0.008905	.	.	.	.	.	.	0.43512	D	0.995773	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.9254	9.3177	0.37943	0.0:0.4639:0.399:0.1371	.	.	.	.	X	951;915;755	.	ENSP00000351177:Q915X	Q	-	1	0	LONP1	5643072	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.254000	0.18314	-0.272000	0.09259	-0.485000	0.04761	CAG	LONP1	-	superfamily_Ribosomal_S5_D2-typ_fold	ENSG00000196365		0.662	RPL36-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	LONP1	HGNC	protein_coding	OTTHUMT00000442561.1	25	0.00	0	G	NM_015414		5692072	5692072	-1	no_errors	ENST00000360614	ensembl	human	known	69_37n	nonsense	23	34.29	12	SNP	0.000	A
LONP2	83752	genome.wustl.edu	37	16	48295398	48295398	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:48295398G>A	ENST00000285737.4	+	5	880	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K	LONP2_ENST00000535754.1_Missense_Mutation_p.E219K	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						AGATGAAGATGAAGATGAAGA	0.358																																						dbGAP											0													151.0	150.0	150.0					16																	48295398		2200	4300	6500	-	-	-	SO:0001583	missense	0			AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910		"""ATPases / AAA-type"""	20598	protein-coding gene	gene with protein product						14561759	Standard	XM_005256191		Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.787G>A	16.37:g.48295398G>A	ENSP00000285737:p.Glu263Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Pept_S16_lon	p.E263K	ENST00000285737.4	37	c.787	CCDS10734.1	16	.	.	.	.	.	.	.	.	.	.	G	19.09	3.758936	0.69763	.	.	ENSG00000102910	ENST00000285737;ENST00000535754;ENST00000416006	T;T	0.32753	1.44;1.46	5.88	5.88	0.94601	.	0.222920	0.48767	D	0.000177	T	0.32823	0.0842	L	0.56396	1.775	0.80722	D	1	B;B	0.27559	0.181;0.181	B;B	0.21708	0.036;0.036	T	0.10683	-1.0619	10	0.15952	T	0.53	-29.8257	20.2314	0.98350	0.0:0.0:1.0:0.0	.	219;263	B7ZKL7;Q86WA8	.;LONP2_HUMAN	K	263;219;219	ENSP00000285737:E263K;ENSP00000445426:E219K	ENSP00000285737:E263K	E	+	1	0	LONP2	46852899	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	6.611000	0.74183	2.789000	0.95967	0.591000	0.81541	GAA	LONP2	-	tigrfam_Pept_S16_lon	ENSG00000102910		0.358	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LONP2	HGNC	protein_coding	OTTHUMT00000256839.2	102	0.00	0	G	NM_031490		48295398	48295398	+1	no_errors	ENST00000285737	ensembl	human	known	69_37n	missense	63	25.88	22	SNP	1.000	A
LPCAT1	79888	genome.wustl.edu	37	5	1479769	1479769	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:1479769C>T	ENST00000283415.3	-	8	915	c.783G>A	c.(781-783)acG>acA	p.T261T		NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	261					cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|negative regulation of phosphatidylcholine biosynthetic process (GO:2001246)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|positive regulation of protein catabolic process (GO:0045732)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|surfactant homeostasis (GO:0043129)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkenylglycerophosphocholine O-acyltransferase activity (GO:0047159)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|1-alkylglycerophosphocholine O-acyltransferase activity (GO:0047191)|calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		ACTGACACAGCGTGAGCCACA	0.448											OREG0016481	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													162.0	122.0	136.0					5																	1479769		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC020166	CCDS3864.1	5p15.33	2013-01-10	2007-12-17	2007-12-17	ENSG00000153395	ENSG00000153395		"""EF-hand domain containing"""	25718	protein-coding gene	gene with protein product		610472	"""acyltransferase like 2"""	AYTL2		8619474, 16704971	Standard	NM_024830		Approved	FLJ12443	uc003jcm.3	Q8NF37	OTTHUMG00000131017	ENST00000283415.3:c.783G>A	5.37:g.1479769C>T		Somatic	596	WXS	Illumina GAIIx	Phase_IV	Q1HAQ1|Q7Z4G6|Q8N3U7|Q8WUL8|Q9GZW6	Silent	SNP	pfam_Acyltransferase,smart_Acyltransferase,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.T261	ENST00000283415.3	37	c.783	CCDS3864.1	5																																																																																			LPCAT1	-	NULL	ENSG00000153395		0.448	LPCAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LPCAT1	HGNC	protein_coding	OTTHUMT00000304032.1	78	0.00	0	C	NM_024830		1479769	1479769	-1	no_errors	ENST00000283415	ensembl	human	known	69_37n	silent	87	24.35	28	SNP	0.195	T
LPIN2	9663	genome.wustl.edu	37	18	2960673	2960673	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr18:2960673C>A	ENST00000261596.4	-	2	404	c.166G>T	c.(166-168)Gga>Tga	p.G56*	RP11-737O24.2_ENST00000584431.1_RNA	NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	56	N-LIP.				cellular lipid metabolic process (GO:0044255)|dephosphorylation (GO:0016311)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)|transcription coactivator activity (GO:0003713)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		CTCAGGACTCCCAGCTTTCCA	0.493																																						dbGAP											0													133.0	119.0	124.0					18																	2960673		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			D87436	CCDS11829.1	18p	2014-09-17			ENSG00000101577	ENSG00000101577			14450	protein-coding gene	gene with protein product		605519				11138012, 9039502	Standard	NM_014646		Approved	KIAA0249	uc002klo.3	Q92539	OTTHUMG00000131508	ENST00000261596.4:c.166G>T	18.37:g.2960673C>A	ENSP00000261596:p.Gly56*	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MD25|D3DUH3	Nonsense_Mutation	SNP	pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2	p.G56*	ENST00000261596.4	37	c.166	CCDS11829.1	18	.	.	.	.	.	.	.	.	.	.	C	37	6.616619	0.97709	.	.	ENSG00000101577	ENST00000261596;ENST00000455369;ENST00000455221	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	19.9351	0.97137	0.0:1.0:0.0:0.0	.	.	.	.	X	56;56;93	.	ENSP00000261596:G56X	G	-	1	0	LPIN2	2950673	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.398000	0.79919	2.703000	0.92315	0.655000	0.94253	GGA	LPIN2	-	pfam_Lipin_N	ENSG00000101577		0.493	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPIN2	HGNC	protein_coding	OTTHUMT00000254363.2	82	0.00	0	C	NM_014646		2960673	2960673	-1	no_errors	ENST00000261596	ensembl	human	known	69_37n	nonsense	38	30.91	17	SNP	1.000	A
LPPR3	79948	genome.wustl.edu	37	19	814652	814652	+	Intron	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:814652G>C	ENST00000520876.3	-	6	736				MIR3187_ENST00000583431.1_RNA|LPPR3_ENST00000359894.2_Missense_Mutation_p.L233V	NM_001270366.1	NP_001257295.1	Q6T4P5	LPPR3_HUMAN								integral component of membrane (GO:0016021)	phosphatidate phosphatase activity (GO:0008195)										CCACGGGTCAGCAAGAGGGCC	0.647																																						dbGAP											0													52.0	52.0	52.0					19																	814652		2193	4299	6492	-	-	-	SO:0001627	intron_variant	0																														ENST00000520876.3:c.657+39C>G	19.37:g.814652G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86XQ4|Q96EH1|Q9BQF9|Q9HAJ4	Missense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.L233V	ENST00000520876.3	37	c.697	CCDS58636.1	19	.	.	.	.	.	.	.	.	.	.	G	11.88	1.771795	0.31320	.	.	ENSG00000129951	ENST00000359894	T	0.23552	1.9	4.14	-2.32	0.06745	.	2.945730	0.02059	U	0.050648	T	0.15089	0.0364	.	.	.	0.18873	N	0.999988	B	0.02656	0.0	B	0.04013	0.001	T	0.16897	-1.0387	8	.	.	.	.	6.5146	0.22240	0.2244:0.447:0.3286:0.0	.	233	Q6T4P5-3	.	V	233	ENSP00000352962:L233V	.	L	-	1	2	AC006273.1	765652	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.083000	0.14871	-0.477000	0.06832	0.555000	0.69702	CTG	hsa-mir-3187	-	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	ENSG00000129951		0.647	LPPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPPR3	miRBase	protein_coding	OTTHUMT00000379096.3	30	0.00	0	G			814652	814652	-1	no_errors	ENST00000359894	ensembl	human	known	69_37n	missense	28	17.65	6	SNP	0.000	C
LPPR5	163404	genome.wustl.edu	37	1	99387467	99387467	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:99387467G>T	ENST00000263177.4	-	4	990	c.769C>A	c.(769-771)Ctg>Atg	p.L257M	LPPR5_ENST00000370188.3_Missense_Mutation_p.L257M	NM_001037317.1	NP_001032394.1	Q32ZL2	LPPR5_HUMAN		257						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)										ATTCCAACCAGAAAGCCTGCT	0.343																																						dbGAP											0													133.0	130.0	131.0					1																	99387467		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000263177.4:c.769C>A	1.37:g.99387467G>T	ENSP00000263177:p.Leu257Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MPX4|B7UCH3|Q32ZD0|Q3ZCU7	Missense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.L257M	ENST00000263177.4	37	c.769	CCDS30778.1	1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.010883	0.54361	.	.	ENSG00000117598	ENST00000370188;ENST00000263177	T;T	0.80304	-1.36;-1.36	5.49	3.64	0.41730	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.643829	0.15415	N	0.263552	T	0.74412	0.3713	M	0.76574	2.34	0.28208	N	0.927041	P;P	0.46064	0.682;0.872	P;P	0.51615	0.546;0.675	T	0.70234	-0.4928	10	0.72032	D	0.01	.	4.0508	0.09795	0.1437:0.1273:0.5978:0.1313	.	257;257	Q32ZL2-2;Q32ZL2	.;LPPR5_HUMAN	M	257	ENSP00000359207:L257M;ENSP00000263177:L257M	ENSP00000263177:L257M	L	-	1	2	AL161744.1	99160055	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	1.310000	0.33551	0.699000	0.31761	-0.384000	0.06662	CTG	LPPR5	-	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	ENSG00000117598		0.343	LPPR5-002	KNOWN	basic|CCDS	protein_coding	LPPR5	Clone_based_vega_gene	protein_coding	OTTHUMT00000393221.1	89	0.00	0	G			99387467	99387467	-1	no_errors	ENST00000263177	ensembl	human	known	69_37n	missense	77	28.70	31	SNP	0.999	T
LRBA	987	genome.wustl.edu	37	4	151749368	151749368	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:151749368G>T	ENST00000357115.3	-	30	5378	c.5135C>A	c.(5134-5136)tCt>tAt	p.S1712Y	LRBA_ENST00000510413.1_Missense_Mutation_p.S1712Y|LRBA_ENST00000507224.1_Missense_Mutation_p.S1712Y|LRBA_ENST00000535741.1_Missense_Mutation_p.S1712Y	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1712						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TTGTTCCACAGATAGATCACC	0.468																																						dbGAP											0													124.0	111.0	115.0					4																	151749368		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.5135C>A	4.37:g.151749368G>T	ENSP00000349629:p.Ser1712Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom	p.S1712Y	ENST00000357115.3	37	c.5135	CCDS3773.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.39|16.39	3.110204|3.110204	0.56398|0.56398	.|.	.|.	ENSG00000198589|ENSG00000198589	ENST00000509835|ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	.|T;T;T;T	.|0.56611	.|0.87;1.02;0.87;0.45	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	.|0.539335	.|0.18864	.|N	.|0.129059	T|T	0.58779|0.58779	0.2146|0.2146	M|M	0.62723|0.62723	1.935|1.935	0.43435|0.43435	D|D	0.995608|0.995608	.|P;P	.|0.49961	.|0.93;0.925	.|B;P	.|0.48141	.|0.365;0.568	T|T	0.61802|0.61802	-0.6988|-0.6988	5|10	.|0.62326	.|D	.|0.03	.|.	14.0728|14.0728	0.64870|0.64870	0.0718:0.0:0.9282:0.0|0.0718:0.0:0.9282:0.0	.|.	.|1712;1712	.|P50851;P50851-2	.|LRBA_HUMAN;.	M|Y	365|1712	.|ENSP00000446299:S1712Y;ENSP00000421552:S1712Y;ENSP00000349629:S1712Y;ENSP00000422180:S1712Y	.|ENSP00000349629:S1712Y	L|S	-|-	1|2	2|0	LRBA|LRBA	151968818|151968818	1.000000|1.000000	0.71417|0.71417	0.749000|0.749000	0.31150|0.31150	0.289000|0.289000	0.27227|0.27227	5.272000|5.272000	0.65559|0.65559	2.704000|2.704000	0.92352|0.92352	0.484000|0.484000	0.47621|0.47621	CTG|TCT	LRBA	-	NULL	ENSG00000198589		0.468	LRBA-002	KNOWN	basic|CCDS	protein_coding	LRBA	HGNC	protein_coding	OTTHUMT00000364939.1	62	0.00	0	G			151749368	151749368	-1	no_errors	ENST00000357115	ensembl	human	known	69_37n	missense	44	22.81	13	SNP	0.996	T
LRBA	987	genome.wustl.edu	37	4	151773039	151773039	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:151773039C>G	ENST00000357115.3	-	23	4066	c.3823G>C	c.(3823-3825)Gag>Cag	p.E1275Q	LRBA_ENST00000510413.1_Missense_Mutation_p.E1275Q|LRBA_ENST00000507224.1_Missense_Mutation_p.E1275Q|LRBA_ENST00000535741.1_Missense_Mutation_p.E1275Q	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1275						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AAAATCACCTCAAGCACATGT	0.373																																						dbGAP											0													44.0	42.0	43.0					4																	151773039		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.3823G>C	4.37:g.151773039C>G	ENSP00000349629:p.Glu1275Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom	p.E1275Q	ENST00000357115.3	37	c.3823	CCDS3773.1	4	.	.	.	.	.	.	.	.	.	.	C	14.10	2.433548	0.43224	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.58358	0.76;0.91;0.76;0.34	5.77	5.77	0.91146	.	0.165540	0.40818	N	0.001019	T	0.63462	0.2513	L	0.34521	1.04	0.48696	D	0.999694	D;P	0.69078	0.997;0.873	D;B	0.75484	0.986;0.385	T	0.53479	-0.8433	10	0.20046	T	0.44	.	20.3559	0.98840	0.0:1.0:0.0:0.0	.	1275;1275	P50851;P50851-2	LRBA_HUMAN;.	Q	1275	ENSP00000446299:E1275Q;ENSP00000421552:E1275Q;ENSP00000349629:E1275Q;ENSP00000422180:E1275Q	ENSP00000349629:E1275Q	E	-	1	0	LRBA	151992489	1.000000	0.71417	0.999000	0.59377	0.037000	0.13140	5.952000	0.70282	2.890000	0.99128	0.585000	0.79938	GAG	LRBA	-	NULL	ENSG00000198589		0.373	LRBA-002	KNOWN	basic|CCDS	protein_coding	LRBA	HGNC	protein_coding	OTTHUMT00000364939.1	59	0.00	0	C			151773039	151773039	-1	no_errors	ENST00000357115	ensembl	human	known	69_37n	missense	43	28.33	17	SNP	1.000	G
LRCH1	23143	genome.wustl.edu	37	13	47260119	47260119	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr13:47260119G>C	ENST00000389798.3	+	5	962	c.765G>C	c.(763-765)atG>atC	p.M255I	LRCH1_ENST00000311191.6_Missense_Mutation_p.M255I|LRCH1_ENST00000389797.3_Missense_Mutation_p.M255I	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	255										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		TTAGAGAGATGAAGCAGCTGC	0.423																																						dbGAP											0													71.0	67.0	69.0					13																	47260119		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"""calponin homology (CH) domain containing 1"""	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.765G>C	13.37:g.47260119G>C	ENSP00000374448:p.Met255Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain	p.M255I	ENST00000389798.3	37	c.765	CCDS31972.1	13	.	.	.	.	.	.	.	.	.	.	G	22.3	4.266838	0.80469	.	.	ENSG00000136141	ENST00000311191;ENST00000389798;ENST00000389797;ENST00000463929;ENST00000478412	T;T;T	0.18338	2.22;2.22;2.22	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.42404	0.1201	M	0.63208	1.945	0.80722	D	1	D;D;D;B	0.63880	0.989;0.984;0.993;0.112	D;P;D;B	0.73708	0.958;0.671;0.981;0.076	T	0.08269	-1.0730	10	0.72032	D	0.01	-22.6845	19.3421	0.94347	0.0:0.0:1.0:0.0	.	255;255;255;255	Q17R43;Q9Y2L9-2;F8W6F0;Q9Y2L9	.;.;.;LRCH1_HUMAN	I	255;255;255;1;1	ENSP00000308493:M255I;ENSP00000374448:M255I;ENSP00000374447:M255I	ENSP00000308493:M255I	M	+	3	0	LRCH1	46158120	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.084000	0.64462	2.826000	0.97356	0.655000	0.94253	ATG	LRCH1	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000136141		0.423	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LRCH1	HGNC	protein_coding	OTTHUMT00000044824.2	69	0.00	0	G	NM_015116		47260119	47260119	+1	no_errors	ENST00000389798	ensembl	human	known	69_37n	missense	63	20.25	16	SNP	1.000	C
LRCH3	84859	genome.wustl.edu	37	3	197562688	197562688	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:197562688C>T	ENST00000425562.2	+	9	1246	c.1246C>T	c.(1246-1248)Cat>Tat	p.H416Y	LRCH3_ENST00000441090.2_Intron|LRCH3_ENST00000438796.2_Missense_Mutation_p.H416Y|LRCH3_ENST00000414675.2_Intron|LRCH3_ENST00000536618.1_Missense_Mutation_p.H11Y|LRCH3_ENST00000334859.4_Missense_Mutation_p.H416Y			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	416						cytoplasm (GO:0005737)|extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		GCGAATCTCTCATGAGGTAGT	0.418																																						dbGAP											0													153.0	148.0	150.0					3																	197562688		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL137527	CCDS3330.1	3q29	2006-04-12			ENSG00000186001	ENSG00000186001			28637	protein-coding gene	gene with protein product						12477932	Standard	NM_032773		Approved	MGC4126	uc003fyj.1	Q96II8	OTTHUMG00000155378	ENST00000425562.2:c.1246C>T	3.37:g.197562688C>T	ENSP00000393579:p.His416Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E0T7|Q96FP9|Q9NT52	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain	p.H416Y	ENST00000425562.2	37	c.1246		3	.	.	.	.	.	.	.	.	.	.	C	17.22	3.334822	0.60853	.	.	ENSG00000186001	ENST00000438796;ENST00000334859;ENST00000425562;ENST00000536618	T;T;T;T	0.49139	2.1;2.35;2.12;0.79	5.15	4.27	0.50696	.	0.155990	0.50627	D	0.000103	T	0.41351	0.1155	L	0.29908	0.895	0.24027	N	0.99613	D;P;P	0.53619	0.961;0.867;0.7	P;B;B	0.49799	0.622;0.317;0.263	T	0.22034	-1.0228	10	0.46703	T	0.11	-13.5814	8.276	0.31873	0.2547:0.6677:0.0:0.0776	.	416;416;416	Q96II8-2;Q96II8;Q96II8-3	.;LRCH3_HUMAN;.	Y	416;416;416;11	ENSP00000399751:H416Y;ENSP00000334375:H416Y;ENSP00000393579:H416Y;ENSP00000439083:H11Y	ENSP00000334375:H416Y	H	+	1	0	LRCH3	199047085	0.999000	0.42202	0.992000	0.48379	0.991000	0.79684	1.874000	0.39568	1.317000	0.45149	0.644000	0.83932	CAT	LRCH3	-	NULL	ENSG00000186001		0.418	LRCH3-006	KNOWN	basic	protein_coding	LRCH3	HGNC	protein_coding	OTTHUMT00000339965.1	75	0.00	0	C	NM_032773		197562688	197562688	+1	no_errors	ENST00000438796	ensembl	human	known	69_37n	missense	72	20.88	19	SNP	0.992	T
LRFN4	78999	genome.wustl.edu	37	11	66625782	66625782	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:66625782C>T	ENST00000309602.4	+	1	810	c.567C>T	c.(565-567)ttC>ttT	p.F189F	PC_ENST00000393960.1_Intron|PC_ENST00000393955.2_Intron|PC_ENST00000393958.2_Intron|LRFN4_ENST00000393952.3_Silent_p.F189F	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	189						integral component of membrane (GO:0016021)				breast(1)|lung(1)|prostate(1)	3						CAGGCGCCTTCGCCCAGCTCG	0.682																																						dbGAP											0													35.0	32.0	33.0					11																	66625782		2199	4294	6493	-	-	-	SO:0001819	synonymous_variant	0			BC007718	CCDS8153.1	11q13.1	2013-02-11				ENSG00000173621		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	28456	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 6"""	612810				16495444, 16828986	Standard	NM_024036		Approved	MGC3103, SALM3., FIGLER6	uc001ojr.3	Q6PJG9		ENST00000309602.4:c.567C>T	11.37:g.66625782C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4VBZ3|Q59GV4|Q8N644|Q9BWJ0	Silent	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.F189	ENST00000309602.4	37	c.567	CCDS8153.1	11																																																																																			LRFN4	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000173621		0.682	LRFN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN4	HGNC	protein_coding	OTTHUMT00000393127.1	26	0.00	0	C	NM_024036		66625782	66625782	+1	no_errors	ENST00000309602	ensembl	human	known	69_37n	silent	27	20.59	7	SNP	0.982	T
LRFN4	78999	genome.wustl.edu	37	11	66627743	66627743	+	3'UTR	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:66627743G>C	ENST00000309602.4	+	0	2228				PC_ENST00000393960.1_Intron|PC_ENST00000393955.2_Intron|PC_ENST00000393958.2_Intron|LRFN4_ENST00000393952.3_Silent_p.G386G	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4							integral component of membrane (GO:0016021)				breast(1)|lung(1)|prostate(1)	3						CCTGGCCTGGGAGTCCCTCCC	0.642																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			BC007718	CCDS8153.1	11q13.1	2013-02-11				ENSG00000173621		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	28456	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 6"""	612810				16495444, 16828986	Standard	NM_024036		Approved	MGC3103, SALM3., FIGLER6	uc001ojr.3	Q6PJG9		ENST00000309602.4:c.*77G>C	11.37:g.66627743G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4VBZ3|Q59GV4|Q8N644|Q9BWJ0	Silent	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.G447	ENST00000309602.4	37	c.1341	CCDS8153.1	11																																																																																			LRFN4	-	NULL	ENSG00000173621		0.642	LRFN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN4	HGNC	protein_coding	OTTHUMT00000393127.1	32	0.00	0	G	NM_024036		66627743	66627743	+1	no_errors	ENST00000525479	ensembl	human	novel	69_37n	silent	25	34.21	13	SNP	0.082	C
LRG1	116844	genome.wustl.edu	37	19	4538710	4538710	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:4538710C>T	ENST00000306390.6	-	2	746	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	LRG1_ENST00000586883.1_5'UTR|CTB-50L17.14_ENST00000586020.1_Intron	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	96					brown fat cell differentiation (GO:0050873)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGTGCAATTCTTGGAGCTTA	0.632																																						dbGAP											0													35.0	34.0	34.0					19																	4538710		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12130.1	19p13.3	2013-09-20			ENSG00000171236	ENSG00000171236			29480	protein-coding gene	gene with protein product	"""leucine rich alpha 2 glycoprotein"""	611289				3856868, 12223515	Standard	NM_052972		Approved	LRG	uc002mau.3	P02750	OTTHUMG00000182010	ENST00000306390.6:c.286G>A	19.37:g.4538710C>T	ENSP00000302621:p.Glu96Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N4F5|Q96QZ4	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.E96K	ENST00000306390.6	37	c.286	CCDS12130.1	19	.	.	.	.	.	.	.	.	.	.	.	16.79	3.221445	0.58560	.	.	ENSG00000171236	ENST00000306390;ENST00000538589	T	0.02525	4.26	4.71	4.71	0.59529	.	0.000000	0.41712	D	0.000826	T	0.07098	0.0180	M	0.70595	2.14	0.27227	N	0.959516	P	0.50156	0.932	P	0.48114	0.567	T	0.19712	-1.0297	10	0.27785	T	0.31	-17.0884	13.0078	0.58715	0.0:1.0:0.0:0.0	.	96	P02750	A2GL_HUMAN	K	96	ENSP00000302621:E96K	ENSP00000302621:E96K	E	-	1	0	LRG1	4489710	0.815000	0.29118	0.510000	0.27712	0.025000	0.11179	3.902000	0.56310	2.446000	0.82766	0.655000	0.94253	GAA	LRG1	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000171236		0.632	LRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRG1	HGNC	protein_coding	OTTHUMT00000458654.2	50	0.00	0	C	NM_052972		4538710	4538710	-1	no_errors	ENST00000306390	ensembl	human	known	69_37n	missense	34	20.93	9	SNP	0.370	T
LRIG2	9860	genome.wustl.edu	37	1	113655244	113655244	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:113655244G>A	ENST00000361127.5	+	14	2140	c.1942G>A	c.(1942-1944)Gaa>Aaa	p.E648K	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	648	Ig-like C2-type 2.				innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		TGCGGCTCGAGAAAGACGCAT	0.493																																						dbGAP											0													135.0	120.0	125.0					1																	113655244		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"""Immunoglobulin superfamily / I-set domain containing"""	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.1942G>A	1.37:g.113655244G>A	ENSP00000355396:p.Glu648Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NSN2	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E648K	ENST00000361127.5	37	c.1942	CCDS30808.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.567912	0.96540	.	.	ENSG00000198799	ENST00000361127	T	0.66460	-0.21	5.45	5.45	0.79879	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.65852	0.2731	L	0.28054	0.825	0.80722	D	1	P	0.49961	0.93	P	0.61722	0.893	T	0.67734	-0.5594	10	0.48119	T	0.1	.	19.2881	0.94087	0.0:0.0:1.0:0.0	.	648	O94898	LRIG2_HUMAN	K	648	ENSP00000355396:E648K	ENSP00000355396:E648K	E	+	1	0	LRIG2	113456767	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.018000	0.88722	2.560000	0.86352	0.591000	0.81541	GAA	LRIG2	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000198799		0.493	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIG2	HGNC	protein_coding	OTTHUMT00000033549.2	64	0.00	0	G	NM_014813		113655244	113655244	+1	no_errors	ENST00000361127	ensembl	human	known	69_37n	missense	59	28.05	23	SNP	1.000	A
LRIG2	9860	genome.wustl.edu	37	1	113657369	113657369	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:113657369G>C	ENST00000361127.5	+	15	2599	c.2401G>C	c.(2401-2403)Gat>Cat	p.D801H	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	801					innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		GCATGAAGATGATGGCTGGAC	0.448																																						dbGAP											0													234.0	172.0	193.0					1																	113657369		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"""Immunoglobulin superfamily / I-set domain containing"""	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.2401G>C	1.37:g.113657369G>C	ENSP00000355396:p.Asp801His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NSN2	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.D801H	ENST00000361127.5	37	c.2401	CCDS30808.1	1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.562067	0.86335	.	.	ENSG00000198799	ENST00000361127	T	0.63744	-0.06	5.28	5.28	0.74379	.	0.049715	0.85682	D	0.000000	T	0.76212	0.3956	M	0.79805	2.47	0.58432	D	0.999999	D	0.89917	1.0	D	0.74674	0.984	T	0.75233	-0.3390	10	0.37606	T	0.19	.	18.9052	0.92458	0.0:0.0:1.0:0.0	.	801	O94898	LRIG2_HUMAN	H	801	ENSP00000355396:D801H	ENSP00000355396:D801H	D	+	1	0	LRIG2	113458892	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.790000	0.99075	2.462000	0.83206	0.561000	0.74099	GAT	LRIG2	-	NULL	ENSG00000198799		0.448	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIG2	HGNC	protein_coding	OTTHUMT00000033549.2	130	0.00	0	G	NM_014813		113657369	113657369	+1	no_errors	ENST00000361127	ensembl	human	known	69_37n	missense	123	24.54	40	SNP	1.000	C
LRP1B	53353	genome.wustl.edu	37	2	141072604	141072604	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:141072604C>G	ENST00000389484.3	-	83	13676	c.12705G>C	c.(12703-12705)ttG>ttC	p.L4235F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4235	EGF-like 17. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGTGACACCTCAAATCACCTT	0.383										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	dbGAP											0													148.0	133.0	138.0					2																	141072604		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.12705G>C	2.37:g.141072604C>G	ENSP00000374135:p.Leu4235Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.L4235F	ENST00000389484.3	37	c.12705	CCDS2182.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.03|17.03	3.284539|3.284539	0.59867|0.59867	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000389484;ENST00000544579|ENST00000437977	T|.	0.42513|.	0.97|.	6.06|6.06	2.92|2.92	0.33932|0.33932	Growth factor, receptor (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);|.	0.550439|.	0.16753|.	U|.	0.200943|.	T|.	0.17619|.	0.0423|.	N|N	0.08118|0.08118	0|0	0.25407|0.25407	N|N	0.988392|0.988392	B|.	0.18166|.	0.026|.	B|.	0.17979|.	0.02|.	T|.	0.22138|.	-1.0225|.	10|.	0.10111|.	T|.	0.7|.	.|.	7.0161|7.0161	0.24889|0.24889	0.0:0.5796:0.1295:0.2908|0.0:0.5796:0.1295:0.2908	.|.	4235|.	Q9NZR2|.	LRP1B_HUMAN|.	F|S	4235;4173|467	ENSP00000374135:L4235F|.	ENSP00000374135:L4235F|.	L|X	-|-	3|2	2|2	LRP1B|LRP1B	140789074|140789074	0.998000|0.998000	0.40836|0.40836	0.995000|0.995000	0.50966|0.50966	0.952000|0.952000	0.60782|0.60782	0.634000|0.634000	0.24614|0.24614	0.912000|0.912000	0.36772|0.36772	-0.126000|-0.126000	0.14955|0.14955	TTG|TGA	LRP1B	-	superfamily_Growth_fac_rcpt,smart_EGF-like,pfscan_EG-like_dom	ENSG00000168702		0.383	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	102	0.00	0	C	NM_018557		141072604	141072604	-1	no_errors	ENST00000389484	ensembl	human	known	69_37n	missense	107	17.05	22	SNP	0.996	G
LRP2	4036	genome.wustl.edu	37	2	170063427	170063427	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:170063427G>C	ENST00000263816.3	-	39	7088	c.6803C>G	c.(6802-6804)tCt>tGt	p.S2268C		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2268					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)"""	AATCACTTCAGAGTTCTCTCC	0.403																																						dbGAP											0													138.0	139.0	138.0					2																	170063427		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.6803C>G	2.37:g.170063427G>C	ENSP00000263816:p.Ser2268Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.S2268C	ENST00000263816.3	37	c.6803	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	G	9.384	1.073861	0.20147	.	.	ENSG00000081479	ENST00000263816	D	0.91237	-2.81	5.89	3.98	0.46160	Six-bladed beta-propeller, TolB-like (1);	0.769387	0.12481	N	0.465157	D	0.88503	0.6454	L	0.40543	1.245	0.24607	N	0.993745	D	0.53151	0.958	P	0.49361	0.608	T	0.79531	-0.1765	10	0.72032	D	0.01	.	7.2661	0.26229	0.1641:0.0:0.701:0.1349	.	2268	P98164	LRP2_HUMAN	C	2268	ENSP00000263816:S2268C	ENSP00000263816:S2268C	S	-	2	0	LRP2	169771673	0.914000	0.31030	0.001000	0.08648	0.008000	0.06430	4.709000	0.61867	0.715000	0.32103	-0.169000	0.13324	TCT	LRP2	-	smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	ENSG00000081479		0.403	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	108	0.00	0	G	NM_004525		170063427	170063427	-1	no_errors	ENST00000263816	ensembl	human	known	69_37n	missense	106	28.38	42	SNP	0.019	C
LRP2	4036	genome.wustl.edu	37	2	170097850	170097850	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:170097850G>C	ENST00000263816.3	-	25	3978	c.3693C>G	c.(3691-3693)caC>caG	p.H1231Q	LRP2_ENST00000443831.1_Missense_Mutation_p.H1094Q	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1231	LDL-receptor class A 13. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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)"""	ATTCATCTGAGTGGCACATAC	0.458																																						dbGAP											0													110.0	114.0	113.0					2																	170097850		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.3693C>G	2.37:g.170097850G>C	ENSP00000263816:p.His1231Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.H1231Q	ENST00000263816.3	37	c.3693	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	G	22.4	4.282059	0.80692	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.95069	-3.6;-3.6	5.92	5.01	0.66863	.	0.045673	0.85682	D	0.000000	D	0.92831	0.7720	N	0.05230	-0.09	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.93371	0.6735	10	0.41790	T	0.15	.	13.6638	0.62382	0.0779:0.0:0.9221:0.0	.	1094;1231	E9PC35;P98164	.;LRP2_HUMAN	Q	1231;1094	ENSP00000263816:H1231Q;ENSP00000409813:H1094Q	ENSP00000263816:H1231Q	H	-	3	2	LRP2	169806096	1.000000	0.71417	0.866000	0.34008	0.951000	0.60555	4.835000	0.62781	1.422000	0.47177	0.650000	0.86243	CAC	LRP2	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000081479		0.458	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	40	0.00	0	G	NM_004525		170097850	170097850	-1	no_errors	ENST00000263816	ensembl	human	known	69_37n	missense	40	32.20	19	SNP	1.000	C
LRP2	4036	genome.wustl.edu	37	2	170136934	170136934	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:170136934G>A	ENST00000263816.3	-	11	1552	c.1267C>T	c.(1267-1269)Cgt>Tgt	p.R423C	LRP2_ENST00000443831.1_Missense_Mutation_p.R423C	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	423					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)"""	GCCACTCCACGATTCTGAGAC	0.448																																						dbGAP											0													72.0	74.0	73.0					2																	170136934		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.1267C>T	2.37:g.170136934G>A	ENSP00000263816:p.Arg423Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.R423C	ENST00000263816.3	37	c.1267	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	G	19.41	3.821523	0.71028	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.91180	-2.8;-2.8	5.41	5.41	0.78517	Six-bladed beta-propeller, TolB-like (1);	0.054970	0.64402	D	0.000001	D	0.92773	0.7702	L	0.41492	1.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.65874	0.939;0.88	D	0.91712	0.5382	9	.	.	.	.	19.2025	0.93717	0.0:0.0:1.0:0.0	.	423;423	E9PC35;P98164	.;LRP2_HUMAN	C	423	ENSP00000263816:R423C;ENSP00000409813:R423C	.	R	-	1	0	LRP2	169845180	1.000000	0.71417	0.670000	0.29842	0.987000	0.75469	5.085000	0.64468	2.527000	0.85204	0.563000	0.77884	CGT	LRP2	-	smart_LDLR_classB_rpt	ENSG00000081479		0.448	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	48	0.00	0	G	NM_004525		170136934	170136934	-1	no_errors	ENST00000263816	ensembl	human	known	69_37n	missense	58	17.14	12	SNP	1.000	A
LRP2BP	55805	genome.wustl.edu	37	4	186291807	186291807	+	Missense_Mutation	SNP	T	T	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:186291807T>A	ENST00000328559.7	-	7	1776	c.965A>T	c.(964-966)cAc>cTc	p.H322L	LRP2BP_ENST00000362004.3_Missense_Mutation_p.H324L|LRP2BP_ENST00000510776.1_Missense_Mutation_p.H296L|LRP2BP_ENST00000505916.1_Missense_Mutation_p.H322L|RP11-714G18.1_ENST00000514884.1_RNA	NM_018409.3	NP_060879.2	Q9P2M1	LR2BP_HUMAN	LRP2 binding protein	322						cytoplasm (GO:0005737)				breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2)	15		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)		AGAATAATAGTGTTTAGCGGT	0.433																																						dbGAP											0													87.0	83.0	85.0					4																	186291807		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037746	CCDS3840.1	4q35.1	2011-05-03			ENSG00000109771	ENSG00000109771			25434	protein-coding gene	gene with protein product						10718198, 12508107	Standard	NM_018409		Approved	DKFZp761O0113	uc003ixj.2	Q9P2M1	OTTHUMG00000160460	ENST00000328559.7:c.965A>T	4.37:g.186291807T>A	ENSP00000332681:p.His322Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJR7|A7E219|B3KX83|Q9NSN6	Missense_Mutation	SNP	pfam_Sel1-like,pfam_TPR_2,smart_Sel1-like,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.H324L	ENST00000328559.7	37	c.971	CCDS3840.1	4	.	.	.	.	.	.	.	.	.	.	T	9.555	1.116877	0.20795	.	.	ENSG00000109771	ENST00000362004;ENST00000328559;ENST00000510776;ENST00000505916	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	5.65	-1.4	0.08968	Tetratricopeptide-like helical (1);	1.269400	0.04935	N	0.457551	T	0.30759	0.0775	L	0.29908	0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.12066	-1.0562	10	0.14656	T	0.56	-1.1146	4.7265	0.12943	0.3316:0.1259:0.0:0.5425	.	296;322	G5E9Z9;Q9P2M1	.;LR2BP_HUMAN	L	324;322;296;322	ENSP00000354846:H324L;ENSP00000332681:H322L;ENSP00000424610:H296L;ENSP00000426203:H322L	ENSP00000332681:H322L	H	-	2	0	LRP2BP	186528801	0.001000	0.12720	0.020000	0.16555	0.305000	0.27757	0.389000	0.20751	-0.320000	0.08640	0.533000	0.62120	CAC	LRP2BP	-	pfam_Sel1-like,smart_Sel1-like	ENSG00000109771		0.433	LRP2BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LRP2BP	HGNC	protein_coding	OTTHUMT00000360679.2	161	0.00	0	T	NM_018409		186291807	186291807	-1	no_errors	ENST00000362004	ensembl	human	known	69_37n	missense	100	23.66	31	SNP	0.018	A
LRP4	4038	genome.wustl.edu	37	11	46880828	46880828	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:46880828C>G	ENST00000378623.1	-	38	5666	c.5424G>C	c.(5422-5424)aaG>aaC	p.K1808N	LRP4-AS1_ENST00000502049.2_RNA|LRP4-AS1_ENST00000531719.1_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1808					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CCTCTACGATCTTGATCTTCT	0.547																																						dbGAP											0													147.0	138.0	142.0					11																	46880828		2201	4299	6500	-	-	-	SO:0001583	missense	0			AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.5424G>C	11.37:g.46880828C>G	ENSP00000367888:p.Lys1808Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.K1808N	ENST00000378623.1	37	c.5424	CCDS31478.1	11	.	.	.	.	.	.	.	.	.	.	C	17.02	3.281387	0.59758	.	.	ENSG00000134569	ENST00000378623	D	0.90676	-2.71	6.06	5.14	0.70334	.	0.066132	0.64402	D	0.000013	T	0.81645	0.4866	N	0.14661	0.345	0.43238	D	0.995144	B	0.33694	0.421	B	0.22601	0.04	T	0.82987	-0.0184	10	0.72032	D	0.01	.	15.6503	0.77088	0.0:0.9337:0.0:0.0663	.	1808	O75096	LRP4_HUMAN	N	1808	ENSP00000367888:K1808N	ENSP00000367888:K1808N	K	-	3	2	LRP4	46837404	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	2.555000	0.45854	2.882000	0.98803	0.655000	0.94253	AAG	LRP4	-	NULL	ENSG00000134569		0.547	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP4	HGNC	protein_coding	OTTHUMT00000391133.1	139	0.00	0	C	NM_002334		46880828	46880828	-1	no_errors	ENST00000378623	ensembl	human	known	69_37n	missense	161	20.30	41	SNP	1.000	G
LRP4	4038	genome.wustl.edu	37	11	46903306	46903306	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:46903306C>T	ENST00000378623.1	-	20	3003	c.2761G>A	c.(2761-2763)Gac>Aac	p.D921N		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	921					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		ATGCCGGCGTCAGCCCAGTAT	0.493																																						dbGAP											0													135.0	126.0	129.0					11																	46903306		2201	4299	6500	-	-	-	SO:0001583	missense	0			AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.2761G>A	11.37:g.46903306C>T	ENSP00000367888:p.Asp921Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.D921N	ENST00000378623.1	37	c.2761	CCDS31478.1	11	.	.	.	.	.	.	.	.	.	.	C	34	5.332248	0.95733	.	.	ENSG00000134569	ENST00000378623	D	0.99552	-6.15	5.81	5.81	0.92471	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.99708	0.9888	M	0.90019	3.08	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98008	1.0364	10	0.59425	D	0.04	.	20.0734	0.97734	0.0:1.0:0.0:0.0	.	921	O75096	LRP4_HUMAN	N	921	ENSP00000367888:D921N	ENSP00000367888:D921N	D	-	1	0	LRP4	46859882	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	7.779000	0.85648	2.751000	0.94390	0.555000	0.69702	GAC	LRP4	-	pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	ENSG00000134569		0.493	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP4	HGNC	protein_coding	OTTHUMT00000391133.1	75	0.00	0	C	NM_002334		46903306	46903306	-1	no_errors	ENST00000378623	ensembl	human	known	69_37n	missense	112	13.18	17	SNP	1.000	T
LRP5	4041	genome.wustl.edu	37	11	68171130	68171130	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:68171130G>C	ENST00000294304.7	+	8	1870	c.1764G>C	c.(1762-1764)ctG>ctC	p.L588L		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	588	Beta-propeller 2.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|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 transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGCCCGACCTGATGGGGCTCA	0.617																																						dbGAP											0													94.0	78.0	83.0					11																	68171130		2200	4294	6494	-	-	-	SO:0001819	synonymous_variant	0			AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.1764G>C	11.37:g.68171130G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96TD6|Q9UES7|Q9UP66	Silent	SNP	pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EGF-like,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.L588	ENST00000294304.7	37	c.1764	CCDS8181.1	11																																																																																			LRP5	-	pirsf_Low_density_Lipo_rcpt-rel_p5/6	ENSG00000162337		0.617	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP5	HGNC	protein_coding	OTTHUMT00000395088.1	57	0.00	0	G	NM_002335		68171130	68171130	+1	no_errors	ENST00000294304	ensembl	human	known	69_37n	silent	100	13.79	16	SNP	0.337	C
LRP8	7804	genome.wustl.edu	37	1	53726154	53726154	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:53726154C>T	ENST00000306052.6	-	13	2139	c.2038G>A	c.(2038-2040)Gag>Aag	p.E680K	LRP8_ENST00000371454.2_Missense_Mutation_p.E680K|LRP8_ENST00000460214.1_5'UTR|LRP8_ENST00000347547.2_Missense_Mutation_p.E510K|LRP8_ENST00000354412.3_Missense_Mutation_p.E551K|LRP8_ENST00000465675.1_Missense_Mutation_p.E233K	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	680					ammon gyrus development (GO:0021541)|blood coagulation (GO:0007596)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cytokine-mediated signaling pathway (GO:0019221)|endocytosis (GO:0006897)|layer formation in cerebral cortex (GO:0021819)|lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction, visible light (GO:0007603)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendrite development (GO:1900006)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|proteolysis (GO:0006508)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|regulation of synaptic transmission (GO:0050804)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)	caveola (GO:0005901)|dendrite (GO:0030425)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|high-density lipoprotein particle binding (GO:0008035)|reelin receptor activity (GO:0038025)|transmembrane signaling receptor activity (GO:0004888)|very-low-density lipoprotein particle receptor activity (GO:0030229)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						TGCTTCAGCTCATGGAAGATG	0.537																																						dbGAP											0													177.0	141.0	154.0					1																	53726154		2203	4300	6503	-	-	-	SO:0001583	missense	0			D50678	CCDS578.1, CCDS579.1, CCDS580.1, CCDS30720.1	1p32.3	2013-05-29			ENSG00000157193	ENSG00000157193		"""Low density lipoprotein receptors"""	6700	protein-coding gene	gene with protein product		602600				8626535, 9079678	Standard	NM_004631		Approved	APOER2, MCI1, LRP-8, HSZ75190	uc001cvi.2	Q14114	OTTHUMG00000008924	ENST00000306052.6:c.2038G>A	1.37:g.53726154C>T	ENSP00000303634:p.Glu680Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.E680K	ENST00000306052.6	37	c.2038	CCDS578.1	1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.952284	0.53293	.	.	ENSG00000157193	ENST00000306052;ENST00000371454;ENST00000465675;ENST00000354412;ENST00000347547	D;D;D;D;D	0.91068	-2.78;-2.78;-2.78;-2.78;-2.78	5.69	5.69	0.88448	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	.	.	.	.	D	0.92964	0.7761	L	0.44542	1.39	0.54753	D	0.999986	B;D;D;D;P;B	0.76494	0.059;0.993;0.994;0.999;0.956;0.059	B;D;D;D;P;B	0.83275	0.028;0.99;0.925;0.996;0.802;0.028	D	0.91974	0.5589	9	0.39692	T	0.17	.	15.3059	0.73992	0.0:0.8606:0.1394:0.0	.	233;551;510;680;680;233	B3KU40;Q14114-2;Q14114-4;Q14114-3;Q14114;E9PP15	.;.;.;.;LRP8_HUMAN;.	K	680;680;233;551;510	ENSP00000303634:E680K;ENSP00000360509:E680K;ENSP00000437009:E233K;ENSP00000346391:E551K;ENSP00000334522:E510K	ENSP00000303634:E680K	E	-	1	0	LRP8	53498742	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.591000	0.36665	2.688000	0.91661	0.561000	0.74099	GAG	LRP8	-	superfamily_Growth_fac_rcpt	ENSG00000157193		0.537	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRP8	HGNC	protein_coding	OTTHUMT00000024699.1	95	0.00	0	C	NM_004631		53726154	53726154	-1	no_errors	ENST00000306052	ensembl	human	known	69_37n	missense	77	30.00	33	SNP	1.000	T
LRPPRC	10128	genome.wustl.edu	37	2	44152221	44152221	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:44152221G>C	ENST00000260665.7	-	27	2938	c.2881C>G	c.(2881-2883)Ctg>Gtg	p.L961V		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	961					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AGTTTTAGCAGATTGTAGTAC	0.363																																						dbGAP											0													160.0	168.0	165.0					2																	44152221		2203	4300	6503	-	-	-	SO:0001583	missense	0			M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"""Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"""	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.2881C>G	2.37:g.44152221G>C	ENSP00000260665:p.Leu961Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat	p.L961V	ENST00000260665.7	37	c.2881	CCDS33189.1	2	.	.	.	.	.	.	.	.	.	.	G	16.42	3.118722	0.56505	.	.	ENSG00000138095	ENST00000465633;ENST00000260665	T	0.23552	1.9	5.72	3.78	0.43462	Tetratricopeptide-like helical (1);	0.148074	0.46442	D	0.000298	T	0.43500	0.1250	M	0.82630	2.6	0.80722	D	1	D;P	0.58970	0.984;0.835	P;B	0.58130	0.833;0.291	T	0.38779	-0.9645	10	0.44086	T	0.13	-9.5385	7.231	0.26043	0.1477:0.0:0.7129:0.1394	.	861;961	F5H4J6;P42704	.;LPPRC_HUMAN	V	861;961	ENSP00000260665:L961V	ENSP00000260665:L961V	L	-	1	2	LRPPRC	44005725	0.997000	0.39634	0.980000	0.43619	0.943000	0.58893	0.953000	0.29162	1.533000	0.49186	0.655000	0.94253	CTG	LRPPRC	-	NULL	ENSG00000138095		0.363	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRPPRC	HGNC	protein_coding	OTTHUMT00000327823.1	121	0.00	0	G	NM_133259		44152221	44152221	-1	no_errors	ENST00000260665	ensembl	human	known	69_37n	missense	131	19.14	31	SNP	0.997	C
LRPPRC	10128	genome.wustl.edu	37	2	44170830	44170830	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:44170830C>A	ENST00000260665.7	-	23	2557	c.2500G>T	c.(2500-2502)Gaa>Taa	p.E834*		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	834					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				ACTTACTTTTCCAAGTGTACA	0.338																																						dbGAP											0													109.0	109.0	109.0					2																	44170830		2203	4299	6502	-	-	-	SO:0001587	stop_gained	0			M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"""Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"""	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.2500G>T	2.37:g.44170830C>A	ENSP00000260665:p.Glu834*	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Nonsense_Mutation	SNP	pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat	p.E834*	ENST00000260665.7	37	c.2500	CCDS33189.1	2	.	.	.	.	.	.	.	.	.	.	C	39	7.736435	0.98462	.	.	ENSG00000138095	ENST00000465633;ENST00000260665	.	.	.	6.06	4.21	0.49690	.	0.339313	0.33327	N	0.005023	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.6977	0.85340	0.0:0.7555:0.2445:0.0	.	.	.	.	X	734;834	.	ENSP00000260665:E834X	E	-	1	0	LRPPRC	44024334	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	4.382000	0.59594	0.831000	0.34780	0.650000	0.86243	GAA	LRPPRC	-	NULL	ENSG00000138095		0.338	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRPPRC	HGNC	protein_coding	OTTHUMT00000327823.1	64	0.00	0	C	NM_133259		44170830	44170830	-1	no_errors	ENST00000260665	ensembl	human	known	69_37n	nonsense	71	19.32	17	SNP	1.000	A
LRRC16A	55604	genome.wustl.edu	37	6	25600861	25600861	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:25600861G>T	ENST00000329474.6	+	33	3807	c.3439G>T	c.(3439-3441)Gac>Tac	p.D1147Y		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1147					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						GGAACGGAGTGACAGCAAGAG	0.542																																						dbGAP											0													54.0	61.0	59.0					6																	25600861		2043	4190	6233	-	-	-	SO:0001583	missense	0			AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.3439G>T	6.37:g.25600861G>T	ENSP00000331983:p.Asp1147Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.D1147Y	ENST00000329474.6	37	c.3439	CCDS54973.1	6	.	.	.	.	.	.	.	.	.	.	G	24.1	4.496712	0.85069	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	T	0.21734	1.99	5.2	5.2	0.72013	.	0.407298	0.27567	N	0.018795	T	0.39332	0.1074	M	0.65975	2.015	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.76071	0.987;0.987;0.942	T	0.30534	-0.9975	10	0.72032	D	0.01	-14.8805	18.7414	0.91774	0.0:0.0:1.0:0.0	.	1147;1147;1147	Q5VZK9;B2RTQ5;Q5VZK9-2	LR16A_HUMAN;.;.	Y	1147	ENSP00000331983:D1147Y	ENSP00000331983:D1147Y	D	+	1	0	LRRC16A	25708840	1.000000	0.71417	0.974000	0.42286	0.995000	0.86356	6.417000	0.73337	2.396000	0.81511	0.563000	0.77884	GAC	LRRC16A	-	NULL	ENSG00000079691		0.542	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRC16A	HGNC	protein_coding	OTTHUMT00000040045.2	45	0.00	0	G	NM_017640		25600861	25600861	+1	no_errors	ENST00000329474	ensembl	human	novel	69_37n	missense	40	20.00	10	SNP	1.000	T
LRRC28	123355	genome.wustl.edu	37	15	99892629	99892629	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:99892629G>A	ENST00000301981.3	+	7	888	c.648G>A	c.(646-648)ctG>ctA	p.L216L	LRRC28_ENST00000558879.1_Intron|LRRC28_ENST00000442993.2_3'UTR|LRRC28_ENST00000422500.2_Silent_p.L147L|LRRC28_ENST00000331450.5_Intron|LRRC28_ENST00000447360.2_Silent_p.L216L	NM_144598.2	NP_653199.2	Q86X40	LRC28_HUMAN	leucine rich repeat containing 28	216										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)			ACATTCACCTGAAAGGCTTGC	0.378																																						dbGAP											0													169.0	155.0	160.0					15																	99892629		2197	4297	6494	-	-	-	SO:0001819	synonymous_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.648G>A	15.37:g.99892629G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8KA22|Q6UY49|Q6ZSS6	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.L216	ENST00000301981.3	37	c.648	CCDS10380.1	15																																																																																			LRRC28	-	NULL	ENSG00000168904		0.378	LRRC28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC28	HGNC	protein_coding	OTTHUMT00000313546.1	111	0.00	0	G	NM_144598		99892629	99892629	+1	no_errors	ENST00000301981	ensembl	human	known	69_37n	silent	47	31.88	22	SNP	1.000	A
LRRC32	2615	genome.wustl.edu	37	11	76372514	76372514	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:76372514G>C	ENST00000407242.2	-	3	365	c.123C>G	c.(121-123)ctC>ctG	p.L41L	LRRC32_ENST00000464145.1_Intron|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000404995.1_Silent_p.L41L|LRRC32_ENST00000260061.5_Silent_p.L41L	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	41					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cytokine secretion (GO:0050710)|positive regulation of gene expression (GO:0010628)	integral component of plasma membrane (GO:0005887)		p.L41L(1)		endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						AGGGGACCTGGAGCAGGCCCA	0.622																																						dbGAP											1	Substitution - coding silent(1)	lung(1)											32.0	32.0	32.0					11																	76372514		2200	4291	6491	-	-	-	SO:0001819	synonymous_variant	0			Z24680	CCDS8245.1	11q13.5-q14	2008-02-05	2005-02-25	2005-02-25	ENSG00000137507	ENSG00000137507			4161	protein-coding gene	gene with protein product		137207	"""glycoprotein A repetitions predominant"""	D11S833E, GARP		8180135, 1543912	Standard	NM_005512		Approved		uc001oxq.4	Q14392	OTTHUMG00000133687	ENST00000407242.2:c.123C>G	11.37:g.76372514G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86V06	Silent	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp	p.L41	ENST00000407242.2	37	c.123	CCDS8245.1	11																																																																																			LRRC32	-	pfam_LRR-contain_N,smart_LRR-contain_N	ENSG00000137507		0.622	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC32	HGNC	protein_coding	OTTHUMT00000257926.2	26	0.00	0	G	NM_005512		76372514	76372514	-1	no_errors	ENST00000260061	ensembl	human	known	69_37n	silent	31	22.50	9	SNP	0.000	C
LRRC36	55282	genome.wustl.edu	37	16	67412590	67412590	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:67412590G>A	ENST00000329956.6	+	12	1924	c.1905G>A	c.(1903-1905)gtG>gtA	p.V635V	LRRC36_ENST00000290940.7_Missense_Mutation_p.E319K|LRRC36_ENST00000435835.3_Silent_p.V410V|LRRC36_ENST00000563189.1_Silent_p.V514V|LRRC36_ENST00000541146.1_Silent_p.V107V	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	635										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		TCTCAATTGTGAGTGGGCAAC	0.408																																						dbGAP											0													116.0	111.0	112.0					16																	67412590		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			BC026156	CCDS32467.1, CCDS58474.1	16q22.1	2008-02-05				ENSG00000159708			25615	protein-coding gene	gene with protein product						12477932	Standard	NM_001161575		Approved	FLJ11004	uc002esv.3	Q1X8D7		ENST00000329956.6:c.1905G>A	16.37:g.67412590G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A4FTV6|A6NDE9|A8K8E6|Q7Z5K5	Missense_Mutation	SNP	NULL	p.E319K	ENST00000329956.6	37	c.955	CCDS32467.1	16	.	.	.	.	.	.	.	.	.	.	G	14.96	2.691355	0.48097	.	.	ENSG00000159708	ENST00000290940	T	0.48201	0.82	5.75	3.77	0.43336	.	.	.	.	.	T	0.53769	0.1817	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56709	-0.7934	6	0.87932	D	0	-0.2693	7.2223	0.25994	0.0887:0.1728:0.7385:0.0	.	.	.	.	K	319	ENSP00000290940:E319K	ENSP00000290940:E319K	E	+	1	0	LRRC36	65970091	0.994000	0.37717	0.947000	0.38551	0.429000	0.31625	1.480000	0.35464	1.417000	0.47077	0.655000	0.94253	GAG	LRRC36	-	NULL	ENSG00000159708		0.408	LRRC36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC36	HGNC	protein_coding	OTTHUMT00000421770.1	93	0.00	0	G	NM_018296		67412590	67412590	+1	no_errors	ENST00000290940	ensembl	human	known	69_37n	missense	75	23.47	23	SNP	0.898	A
LRRC36	55282	genome.wustl.edu	37	16	67418913	67418913	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:67418913C>A	ENST00000329956.6	+	14	2205	c.2186C>A	c.(2185-2187)tCc>tAc	p.S729Y	LRRC36_ENST00000290940.7_3'UTR|LRRC36_ENST00000435835.3_Missense_Mutation_p.S504Y|LRRC36_ENST00000563189.1_Missense_Mutation_p.S608Y|LRRC36_ENST00000541146.1_Missense_Mutation_p.S201Y	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	729	Poly-Ser.									endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		ACGTTGTCTTCCTCCTCACCA	0.522																																						dbGAP											0													115.0	101.0	106.0					16																	67418913		2198	4300	6498	-	-	-	SO:0001583	missense	0			BC026156	CCDS32467.1, CCDS58474.1	16q22.1	2008-02-05				ENSG00000159708			25615	protein-coding gene	gene with protein product						12477932	Standard	NM_001161575		Approved	FLJ11004	uc002esv.3	Q1X8D7		ENST00000329956.6:c.2186C>A	16.37:g.67418913C>A	ENSP00000329943:p.Ser729Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A4FTV6|A6NDE9|A8K8E6|Q7Z5K5	Missense_Mutation	SNP	NULL	p.S729Y	ENST00000329956.6	37	c.2186	CCDS32467.1	16	.	.	.	.	.	.	.	.	.	.	C	18.64	3.668161	0.67814	.	.	ENSG00000159708	ENST00000329956;ENST00000541146;ENST00000435835	T;T;T	0.59224	2.62;0.28;0.99	5.51	4.56	0.56223	.	0.125321	0.37053	N	0.002269	T	0.67002	0.2847	L	0.51422	1.61	0.34201	D	0.673187	D;D;D;D	0.76494	0.96;0.999;0.999;0.96	P;D;D;P	0.85130	0.693;0.996;0.997;0.693	T	0.76072	-0.3093	10	0.87932	D	0	-6.3997	7.6346	0.28259	0.0:0.7494:0.1652:0.0854	.	201;504;608;729	B7Z4G3;B7Z7B3;Q1X8D7-2;Q1X8D7	.;.;.;LRC36_HUMAN	Y	729;201;504	ENSP00000329943:S729Y;ENSP00000445861:S201Y;ENSP00000411122:S504Y	ENSP00000329943:S729Y	S	+	2	0	LRRC36	65976414	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.715000	0.47210	1.570000	0.49709	0.557000	0.71058	TCC	LRRC36	-	NULL	ENSG00000159708		0.522	LRRC36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC36	HGNC	protein_coding	OTTHUMT00000421770.1	45	0.00	0	C	NM_018296		67418913	67418913	+1	no_errors	ENST00000329956	ensembl	human	known	69_37n	missense	58	15.94	11	SNP	1.000	A
LRRC37A2	474170	genome.wustl.edu	37	17	44627783	44627783	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:44627783C>T	ENST00000576629.1	+	11	5202	c.4707C>T	c.(4705-4707)ctC>ctT	p.L1569L	ARL17A_ENST00000573185.1_Intron|LRRC37A2_ENST00000333412.3_Silent_p.L1569L|ARL17A_ENST00000337845.7_Intron|ARL17A_ENST00000329240.4_Intron|ARL17A_ENST00000445552.2_Intron			A6NM11	L37A2_HUMAN	leucine rich repeat containing 37, member A2	1569						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		TTTTTTAGCTCAAAAAAGAAG	0.328																																						dbGAP											0													44.0	42.0	43.0					17																	44627783		2021	3983	6004	-	-	-	SO:0001819	synonymous_variant	0			AY386262	CCDS42353.1	17q21.31	2013-05-14			ENSG00000238083	ENSG00000238083			32404	protein-coding gene	gene with protein product	"""c114 SLIT-like testicular protein"""						Standard	NM_001006607		Approved	FLJ45049	uc002ikn.1	A6NM11	OTTHUMG00000178032	ENST00000576629.1:c.4707C>T	17.37:g.44627783C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZMC3	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.L1569	ENST00000576629.1	37	c.4707	CCDS42353.1	17																																																																																			LRRC37A2	-	NULL	ENSG00000238083		0.328	LRRC37A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC37A2	HGNC	protein_coding	OTTHUMT00000440299.2	123	0.00	0	C	NM_001006607		44627783	44627783	+1	no_errors	ENST00000333412	ensembl	human	known	69_37n	silent	244	20.32	63	SNP	0.020	T
LRRC37A6P	387646	genome.wustl.edu	37	10	27538996	27538996	+	lincRNA	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:27538996C>G	ENST00000574842.1	+	0	265				LRRC37A6P_ENST00000284414.4_RNA																							GGTCCAGCATCTTCCGGTGAC	0.532																																						dbGAP											0													83.0	71.0	74.0					10																	27538996		692	1591	2283	-	-	-			0																															10.37:g.27538996C>G		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000574842.1	37	NULL		10																																																																																			LRRC37A6P	-	-	ENSG00000230445		0.532	RP11-85G18.6-001	KNOWN	basic	lincRNA	LRRC37A6P	HGNC	lincRNA	OTTHUMT00000436904.1	105	0.00	0	C			27538996	27538996	-1	no_errors	ENST00000284414	ensembl	human	known	69_37n	rna	96	23.81	30	SNP	0.001	G
LRRC37B	114659	genome.wustl.edu	37	17	30348459	30348459	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:30348459G>A	ENST00000341671.7	+	1	299	c.294G>A	c.(292-294)ctG>ctA	p.L98L	LRRC37B_ENST00000394713.3_Silent_p.L98L|LRRC37B_ENST00000543378.2_Silent_p.L16L|LRRC37B_ENST00000327564.7_Silent_p.L125L|LRRC37B_ENST00000584368.1_Silent_p.L110L	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	98						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				CTCCATTCCTGAAGGAATTGG	0.567																																						dbGAP											0													62.0	70.0	67.0					17																	30348459		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0			AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"""KIAA0563-related"""					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.294G>A	17.37:g.30348459G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RC9|Q5YKG6	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.L98	ENST00000341671.7	37	c.294	CCDS32609.1	17																																																																																			LRRC37B	-	NULL	ENSG00000185158		0.567	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC37B	HGNC	protein_coding	OTTHUMT00000446508.1	35	0.00	0	G	NM_052888		30348459	30348459	+1	no_errors	ENST00000341671	ensembl	human	known	69_37n	silent	10	41.18	7	SNP	0.004	A
LRRC37B	114659	genome.wustl.edu	37	17	30348646	30348646	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:30348646G>C	ENST00000341671.7	+	1	486	c.481G>C	c.(481-483)Gat>Cat	p.D161H	LRRC37B_ENST00000394713.3_Missense_Mutation_p.D161H|LRRC37B_ENST00000543378.2_Missense_Mutation_p.D79H|LRRC37B_ENST00000327564.7_Missense_Mutation_p.D188H|LRRC37B_ENST00000584368.1_Missense_Mutation_p.D173H	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	161						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				TACAGATCTAGATCGGGCTGC	0.488																																						dbGAP											0													55.0	54.0	54.0					17																	30348646		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"""KIAA0563-related"""					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.481G>C	17.37:g.30348646G>C	ENSP00000340519:p.Asp161His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RC9|Q5YKG6	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.D161H	ENST00000341671.7	37	c.481	CCDS32609.1	17	.	.	.	.	.	.	.	.	.	.	N	8.973	0.973436	0.18736	.	.	ENSG00000185158	ENST00000543378;ENST00000327564;ENST00000394713;ENST00000341671	T;T;T;T	0.65178	-0.07;-0.14;0.97;-0.13	2.05	0.91	0.19337	.	.	.	.	.	T	0.40886	0.1135	L	0.29908	0.895	0.09310	N	1	P;P	0.44380	0.834;0.834	B;B	0.35813	0.211;0.211	T	0.27365	-1.0076	9	0.48119	T	0.1	.	3.6876	0.08334	0.3058:0.0:0.6942:0.0	.	161;161	Q17RC9;Q96QE4	.;LR37B_HUMAN	H	79;188;161;161	ENSP00000443345:D79H;ENSP00000332536:D188H;ENSP00000378202:D161H;ENSP00000340519:D161H	ENSP00000332536:D188H	D	+	1	0	LRRC37B	27372759	0.000000	0.05858	0.003000	0.11579	0.050000	0.14768	0.223000	0.17719	0.303000	0.22785	0.299000	0.19835	GAT	LRRC37B	-	NULL	ENSG00000185158		0.488	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC37B	HGNC	protein_coding	OTTHUMT00000446508.1	31	0.00	0	G	NM_052888		30348646	30348646	+1	no_errors	ENST00000341671	ensembl	human	known	69_37n	missense	26	27.78	10	SNP	0.005	C
RAD54L	8438	genome.wustl.edu	37	1	46727077	46727077	+	Intron	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:46727077C>T	ENST00000371975.4	+	8	1565				RAD54L_ENST00000473251.1_Intron|RAD54L_ENST00000442598.1_Intron	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)						chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		TCTCAGCAGTCTGGGTGGTAG	0.488								Direct reversal of damage;Homologous recombination																														dbGAP											0													77.0	68.0	71.0					1																	46727077		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"""RAD54 (S.cerevisiae)-like"""			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.891+20C>T	1.37:g.46727077C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TE31|Q6IUY3	Splice_Site	SNP	-	NULL	ENST00000371975.4	37	c.NULL	CCDS532.1	1																																																																																			LRRC41	-	-	ENSG00000132128		0.488	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC41	HGNC	protein_coding	OTTHUMT00000021272.1	83	0.00	0	C	NM_003579		46727077	46727077	-1	no_errors	ENST00000496156	ensembl	human	known	69_37n	splice_site	61	27.38	23	SNP	0.000	T
LRRC42	115353	genome.wustl.edu	37	1	54426066	54426066	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:54426066G>C	ENST00000371370.3	+	5	1164	c.643G>C	c.(643-645)Gat>Cat	p.D215H	LRRC42_ENST00000319223.4_Missense_Mutation_p.D215H	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	215										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						TTGTTTATCTGATGCTGGGGT	0.368																																						dbGAP											0													138.0	137.0	138.0					1																	54426066		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK075201	CCDS585.1	1p33-p32.1	2014-02-12			ENSG00000116212	ENSG00000116212			28792	protein-coding gene	gene with protein product						12477932	Standard	NM_001256409		Approved	MGC8974	uc001cwj.2	Q9Y546	OTTHUMG00000008436	ENST00000371370.3:c.643G>C	1.37:g.54426066G>C	ENSP00000360421:p.Asp215His	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DQ46|Q8N2Q8	Missense_Mutation	SNP	NULL	p.D215H	ENST00000371370.3	37	c.643	CCDS585.1	1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.088658	0.76756	.	.	ENSG00000116212	ENST00000371370;ENST00000319223;ENST00000444987	T;T;T	0.33438	5.31;5.31;1.41	5.85	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.41534	0.1163	L	0.29908	0.895	0.80722	D	1	D;D	0.63880	0.993;0.987	D;P	0.63793	0.918;0.83	T	0.28267	-1.0049	10	0.46703	T	0.11	-19.0308	15.2664	0.73666	0.067:0.0:0.933:0.0	.	215;215	E7EP35;Q9Y546	.;LRC42_HUMAN	H	215	ENSP00000360421:D215H;ENSP00000318185:D215H;ENSP00000389368:D215H	ENSP00000318185:D215H	D	+	1	0	LRRC42	54198654	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.549000	0.90672	1.635000	0.50512	0.655000	0.94253	GAT	LRRC42	-	NULL	ENSG00000116212		0.368	LRRC42-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LRRC42	HGNC	protein_coding	OTTHUMT00000023250.1	98	0.00	0	G	NM_052940		54426066	54426066	+1	no_errors	ENST00000319223	ensembl	human	known	69_37n	missense	83	29.06	34	SNP	1.000	C
LRRC66	339977	genome.wustl.edu	37	4	52862027	52862027	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:52862027G>T	ENST00000343457.3	-	4	1167	c.1161C>A	c.(1159-1161)ttC>ttA	p.F387L		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	387						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						AGGCGACAAGGAATGTGATGA	0.562																																						dbGAP											0													50.0	52.0	51.0					4																	52862027		1978	4165	6143	-	-	-	SO:0001583	missense	0			BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.1161C>A	4.37:g.52862027G>T	ENSP00000341944:p.Phe387Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.F387L	ENST00000343457.3	37	c.1161	CCDS43229.1	4	.	.	.	.	.	.	.	.	.	.	G	12.43	1.936992	0.34189	.	.	ENSG00000188993	ENST00000343457	T	0.41065	1.01	4.67	2.46	0.29980	.	0.000000	0.47852	D	0.000207	T	0.37839	0.1018	M	0.63843	1.955	0.20074	N	0.999938	P	0.50943	0.94	B	0.42495	0.389	T	0.33445	-0.9868	10	0.87932	D	0	-20.1784	6.9964	0.24784	0.2657:0.0:0.7343:0.0	.	387	Q68CR7	LRC66_HUMAN	L	387	ENSP00000341944:F387L	ENSP00000341944:F387L	F	-	3	2	LRRC66	52556784	0.509000	0.26163	0.099000	0.21106	0.008000	0.06430	0.687000	0.25407	0.277000	0.22141	0.467000	0.42956	TTC	LRRC66	-	NULL	ENSG00000188993		0.562	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC66	HGNC	protein_coding	OTTHUMT00000361473.1	57	0.00	0	G	NM_001024611		52862027	52862027	-1	no_errors	ENST00000343457	ensembl	human	known	69_37n	missense	46	22.03	13	SNP	0.250	T
LRRC70	100130733	genome.wustl.edu	37	5	61875318	61875318	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:61875318C>T	ENST00000334994.5	+	2	292	c.53C>T	c.(52-54)aCc>aTc	p.T18I	IPO11_ENST00000325324.6_Intron|IPO11_ENST00000409296.3_Intron|IPO11_ENST00000409534.1_Intron|LRRC70_ENST00000491184.2_Missense_Mutation_p.T18I|LRRC70_ENST00000448151.2_Intron	NM_181506.4	NP_852607.3	Q7Z2Q7	LRR70_HUMAN	leucine rich repeat containing 70	18						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)	2						CTGGTTGTTACCTGTTATCTT	0.393																																						dbGAP											0													86.0	69.0	74.0					5																	61875318		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS47218.1	5q12.1	2008-12-18			ENSG00000186105	ENSG00000186105			35155	protein-coding gene	gene with protein product	"""synleurin"""						Standard	NM_181506		Approved	SLRN, LOC100130733	uc011cqs.1	Q7Z2Q7	OTTHUMG00000154401	ENST00000334994.5:c.53C>T	5.37:g.61875318C>T	ENSP00000399441:p.Thr18Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZWI5	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.T18I	ENST00000334994.5	37	c.53	CCDS47218.1	5	.	.	.	.	.	.	.	.	.	.	C	0.025	-1.383717	0.01194	.	.	ENSG00000186105	ENST00000334994;ENST00000491184	T	0.47528	0.84	5.78	-3.06	0.05379	.	.	.	.	.	T	0.20333	0.0489	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.19484	-1.0304	8	.	.	.	.	4.6507	0.12594	0.1367:0.1432:0.4971:0.223	.	18	Q7Z2Q7	LRR70_HUMAN	I	18	ENSP00000399441:T18I	.	T	+	2	0	LRRC70	61911075	0.002000	0.14202	0.008000	0.14137	0.016000	0.09150	-0.068000	0.11561	-0.608000	0.05731	-0.176000	0.13171	ACC	LRRC70	-	NULL	ENSG00000186105		0.393	LRRC70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC70	HGNC	protein_coding	OTTHUMT00000335067.3	87	0.00	0	C	XR_042302		61875318	61875318	+1	no_errors	ENST00000334994	ensembl	human	known	69_37n	missense	51	28.17	20	SNP	0.000	T
LRRC70	100130733	genome.wustl.edu	37	5	61876529	61876529	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:61876529C>T	ENST00000334994.5	+	2	1503	c.1264C>T	c.(1264-1266)Cat>Tat	p.H422Y	IPO11_ENST00000325324.6_Intron|IPO11_ENST00000409296.3_Intron|IPO11_ENST00000409534.1_Intron|LRRC70_ENST00000491184.2_3'UTR|LRRC70_ENST00000448151.2_3'UTR	NM_181506.4	NP_852607.3	Q7Z2Q7	LRR70_HUMAN	leucine rich repeat containing 70	422						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)	2						AAAATCTCCTCATATTCATCA	0.398																																						dbGAP											0													81.0	66.0	71.0					5																	61876529		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS47218.1	5q12.1	2008-12-18			ENSG00000186105	ENSG00000186105			35155	protein-coding gene	gene with protein product	"""synleurin"""						Standard	NM_181506		Approved	SLRN, LOC100130733	uc011cqs.1	Q7Z2Q7	OTTHUMG00000154401	ENST00000334994.5:c.1264C>T	5.37:g.61876529C>T	ENSP00000399441:p.His422Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZWI5	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.H422Y	ENST00000334994.5	37	c.1264	CCDS47218.1	5	.	.	.	.	.	.	.	.	.	.	C	11.24	1.579839	0.28180	.	.	ENSG00000186105	ENST00000334994	T	0.48201	0.82	4.97	4.97	0.65823	.	.	.	.	.	T	0.33904	0.0879	N	0.19112	0.55	0.80722	D	1	P	0.46277	0.875	B	0.41571	0.36	T	0.06075	-1.0847	8	.	.	.	.	14.1549	0.65410	0.0:0.785:0.215:0.0	.	422	Q7Z2Q7	LRR70_HUMAN	Y	422	ENSP00000399441:H422Y	.	H	+	1	0	LRRC70	61912285	0.015000	0.18098	1.000000	0.80357	0.949000	0.60115	0.665000	0.25083	2.723000	0.93209	0.655000	0.94253	CAT	LRRC70	-	NULL	ENSG00000186105		0.398	LRRC70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC70	HGNC	protein_coding	OTTHUMT00000335067.3	59	0.00	0	C	XR_042302		61876529	61876529	+1	no_errors	ENST00000334994	ensembl	human	known	69_37n	missense	49	16.95	10	SNP	0.813	T
LRRC71	149499	genome.wustl.edu	37	1	156900405	156900405	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:156900405C>G	ENST00000337428.7	+	12	1479	c.1325C>G	c.(1324-1326)tCc>tGc	p.S442C	LRRC71_ENST00000490146.1_3'UTR	NM_144702.2	NP_653303.2	Q8N4P6	LRC71_HUMAN	leucine rich repeat containing 71	442										endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|stomach(1)	12						CTCCTGGAGTCCGAGGTAAGT	0.607																																						dbGAP											0													33.0	38.0	36.0					1																	156900405		2005	4153	6158	-	-	-	SO:0001583	missense	0			BC033790	CCDS44249.1	1q23.1	2011-02-14	2011-02-14	2011-02-14	ENSG00000160838	ENSG00000160838			26556	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 92"""	C1orf92		14702039	Standard	NM_144702		Approved	FLJ32884	uc001fqm.2	Q8N4P6	OTTHUMG00000041298	ENST00000337428.7:c.1325C>G	1.37:g.156900405C>G	ENSP00000336661:p.Ser442Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96M24	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.S442C	ENST00000337428.7	37	c.1325	CCDS44249.1	1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.348997	0.41599	.	.	ENSG00000160838	ENST00000337428	T	0.24723	1.84	5.43	5.43	0.79202	.	0.118196	0.39020	N	0.001490	T	0.25195	0.0612	L	0.32530	0.975	0.36896	D	0.890162	D;D	0.76494	0.999;0.999	P;D	0.66847	0.887;0.947	T	0.01977	-1.1236	10	0.46703	T	0.11	-11.3614	10.0501	0.42210	0.0:0.9117:0.0:0.0883	.	442;227	Q8N4P6;Q8N4P6-2	LRC71_HUMAN;.	C	442	ENSP00000336661:S442C	ENSP00000336661:S442C	S	+	2	0	LRRC71	155167029	0.800000	0.28916	0.978000	0.43139	0.059000	0.15707	1.704000	0.37857	2.827000	0.97445	0.650000	0.86243	TCC	LRRC71	-	NULL	ENSG00000160838		0.607	LRRC71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC71	HGNC	protein_coding	OTTHUMT00000098961.1	55	0.00	0	C	NM_144702		156900405	156900405	+1	no_errors	ENST00000337428	ensembl	human	known	69_37n	missense	45	33.33	23	SNP	0.975	G
LRRCC1	85444	genome.wustl.edu	37	8	86027664	86027664	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:86027664G>T	ENST00000360375.3	+	6	924	c.775G>T	c.(775-777)Gaa>Taa	p.E259*	LRRCC1_ENST00000414626.2_Nonsense_Mutation_p.E239*	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	259					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						AGTTCCCTTGGAACAGTTTGC	0.363																																						dbGAP											0													108.0	101.0	103.0					8																	86027664		1894	4127	6021	-	-	-	SO:0001587	stop_gained	0			BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"""centrosomal leucine-rich repeat and coiled-coil containing protein"", ""variable number of flagella 1 homolog (Chlamydomonas)"""		"""leucine rich repeat and coiled-coil domain containing 1"""			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.775G>T	8.37:g.86027664G>T	ENSP00000353538:p.Glu259*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Nonsense_Mutation	SNP	pfam_Leu-rich_rpt,superfamily_Prefoldin	p.E259*	ENST00000360375.3	37	c.775	CCDS43750.1	8	.	.	.	.	.	.	.	.	.	.	G	18.81	3.702613	0.68501	.	.	ENSG00000133739	ENST00000426019;ENST00000360375;ENST00000414626	.	.	.	5.04	4.15	0.48705	.	0.364896	0.19904	N	0.103447	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	-6.9583	7.5834	0.27978	0.0904:0.1781:0.7315:0.0	.	.	.	.	X	166;259;239	.	ENSP00000353538:E259X	E	+	1	0	LRRCC1	86214916	0.789000	0.28775	0.952000	0.39060	0.101000	0.19017	0.818000	0.27295	1.313000	0.45069	0.585000	0.79938	GAA	LRRCC1	-	NULL	ENSG00000133739		0.363	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRCC1	HGNC	protein_coding	OTTHUMT00000380267.1	81	0.00	0	G	NM_033402		86027664	86027664	+1	no_errors	ENST00000360375	ensembl	human	known	69_37n	nonsense	63	27.59	24	SNP	0.138	T
LRRCC1	85444	genome.wustl.edu	37	8	86050409	86050409	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:86050409G>T	ENST00000360375.3	+	16	2782	c.2633G>T	c.(2632-2634)aGa>aTa	p.R878I	LRRCC1_ENST00000414626.2_Missense_Mutation_p.R858I	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	878					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						CACAATGAAAGAAAAGAAAAA	0.333																																						dbGAP											0													43.0	41.0	42.0					8																	86050409		1815	4070	5885	-	-	-	SO:0001583	missense	0			BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"""centrosomal leucine-rich repeat and coiled-coil containing protein"", ""variable number of flagella 1 homolog (Chlamydomonas)"""		"""leucine rich repeat and coiled-coil domain containing 1"""			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.2633G>T	8.37:g.86050409G>T	ENSP00000353538:p.Arg878Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Missense_Mutation	SNP	pfam_Leu-rich_rpt,superfamily_Prefoldin	p.R878I	ENST00000360375.3	37	c.2633	CCDS43750.1	8	.	.	.	.	.	.	.	.	.	.	G	24.4	4.529086	0.85706	.	.	ENSG00000133739	ENST00000360375;ENST00000414626	T;T	0.43294	0.95;0.95	5.58	4.71	0.59529	.	0.000000	0.41605	D	0.000845	T	0.62295	0.2416	M	0.68593	2.085	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.991;0.999	T	0.65857	-0.6066	10	0.66056	D	0.02	-16.5949	14.0841	0.64944	0.0735:0.0:0.9264:0.0	.	858;785;878	Q9C099-2;E9PE41;Q9C099	.;.;LRCC1_HUMAN	I	878;858	ENSP00000353538:R878I;ENSP00000394695:R858I	ENSP00000353538:R878I	R	+	2	0	LRRCC1	86237661	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	8.624000	0.90961	1.359000	0.45940	0.650000	0.86243	AGA	LRRCC1	-	superfamily_Prefoldin	ENSG00000133739		0.333	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRCC1	HGNC	protein_coding	OTTHUMT00000380267.1	62	0.00	0	G	NM_033402		86050409	86050409	+1	no_errors	ENST00000360375	ensembl	human	known	69_37n	missense	46	23.33	14	SNP	1.000	T
LRRD1	401387	genome.wustl.edu	37	7	91793470	91793470	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:91793470G>C	ENST00000458448.1	-	2	1247	c.1047C>G	c.(1045-1047)ctC>ctG	p.L349L	LRRD1_ENST00000343318.5_Intron|LRRD1_ENST00000430130.2_Silent_p.L349L|LRRD1_ENST00000454089.2_5'UTR|CTB-161K23.1_ENST00000453068.1_RNA|LRRD1_ENST00000422722.1_Intron			A4D1F6	LRRD1_HUMAN	leucine-rich repeats and death domain containing 1	349					signal transduction (GO:0007165)					breast(4)|endometrium(1)	5						CTTTTATTTTGAGTAACTGAA	0.303																																						dbGAP											0													25.0	20.0	22.0					7																	91793470		692	1580	2272	-	-	-	SO:0001819	synonymous_variant	0			BC026112	CCDS55124.1	7q21.2	2011-05-23			ENSG00000240720	ENSG00000240720			34300	protein-coding gene	gene with protein product							Standard	NM_001161528		Approved	IMAGE:4798971	uc011khp.1	A4D1F6	OTTHUMG00000155861	ENST00000458448.1:c.1047C>G	7.37:g.91793470G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZMM9|Q49AT9	Silent	SNP	pfam_Leu-rich_rpt,superfamily_DEATH-like,smart_Leu-rich_rpt_typical-subtyp,pfscan_Death	p.L349	ENST00000458448.1	37	c.1047	CCDS55124.1	7																																																																																			LRRD1	-	NULL	ENSG00000240720		0.303	LRRD1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRD1	HGNC	protein_coding	OTTHUMT00000342027.2	39	0.00	0	G	NM_001045475		91793470	91793470	-1	no_errors	ENST00000430130	ensembl	human	known	69_37n	silent	28	30.00	12	SNP	0.113	C
LRRK2	120892	genome.wustl.edu	37	12	40681225	40681225	+	Nonsense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:40681225C>G	ENST00000298910.7	+	20	2631	c.2573C>G	c.(2572-2574)tCa>tGa	p.S858*	LRRK2_ENST00000343742.2_Nonsense_Mutation_p.S858*	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	858					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)	p.S858*(2)		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)				GGAACAGCCTCAGGCAGCGAT	0.393																																						dbGAP											2	Substitution - Nonsense(2)	breast(2)											116.0	111.0	113.0					12																	40681225		2203	4299	6502	-	-	-	SO:0001587	stop_gained	0			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.2573C>G	12.37:g.40681225C>G	ENSP00000298910:p.Ser858*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJU2|Q6ZS50|Q8NCX9	Nonsense_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.S858*	ENST00000298910.7	37	c.2573	CCDS31774.1	12	.	.	.	.	.	.	.	.	.	.	C	36	5.613925	0.96637	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	.	.	.	5.5	4.61	0.57282	.	0.438335	0.23780	N	0.044636	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	14.5243	0.67875	0.0:0.9294:0.0:0.0706	.	.	.	.	X	858	.	ENSP00000298910:S858X	S	+	2	0	LRRK2	38967492	0.012000	0.17670	0.582000	0.28627	0.044000	0.14063	2.600000	0.46240	1.319000	0.45190	-0.424000	0.05967	TCA	LRRK2	-	NULL	ENSG00000188906		0.393	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	HGNC	protein_coding	OTTHUMT00000277179.1	102	0.00	0	C	XM_058513		40681225	40681225	+1	no_errors	ENST00000298910	ensembl	human	known	69_37n	nonsense	71	17.44	15	SNP	0.133	G
LRRK2	120892	genome.wustl.edu	37	12	40761505	40761505	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:40761505G>C	ENST00000298910.7	+	51	7580	c.7522G>C	c.(7522-7524)Gaa>Caa	p.E2508Q		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2508					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)				GCAAAATTTAGAAAAACACAT	0.313																																						dbGAP											0													53.0	56.0	55.0					12																	40761505		2203	4294	6497	-	-	-	SO:0001583	missense	0			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.7522G>C	12.37:g.40761505G>C	ENSP00000298910:p.Glu2508Gln	Somatic		WXS	Illumina GAIIx	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.E2508Q	ENST00000298910.7	37	c.7522	CCDS31774.1	12	.	.	.	.	.	.	.	.	.	.	G	12.92	2.083636	0.36758	.	.	ENSG00000188906	ENST00000298910	T	0.71461	-0.57	5.3	5.3	0.74995	WD40 repeat-like-containing domain (1);	0.398262	0.28853	N	0.013923	T	0.56963	0.2021	L	0.44542	1.39	0.23994	N	0.996235	B;B	0.23316	0.083;0.083	B;B	0.15052	0.012;0.012	T	0.38993	-0.9635	10	0.21540	T	0.41	.	6.8983	0.24269	0.214:0.0:0.786:0.0	.	2508;2508	Q17RV3;Q5S007	.;LRRK2_HUMAN	Q	2508	ENSP00000298910:E2508Q	ENSP00000298910:E2508Q	E	+	1	0	LRRK2	39047772	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.128000	0.50492	2.480000	0.83734	0.561000	0.74099	GAA	LRRK2	-	superfamily_WD40_repeat_dom	ENSG00000188906		0.313	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	HGNC	protein_coding	OTTHUMT00000277179.1	55	0.00	0	G	XM_058513		40761505	40761505	+1	no_errors	ENST00000298910	ensembl	human	known	69_37n	missense	31	26.19	11	SNP	1.000	C
LRRN3	54674	genome.wustl.edu	37	7	110764740	110764740	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:110764740G>C	ENST00000422987.3	+	2	2743	c.1912G>C	c.(1912-1914)Ggg>Cgg	p.G638R	IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000450877.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.G638R|IMMP2L_ENST00000405709.2_Intron|LRRN3_ENST00000451085.1_Missense_Mutation_p.G638R|IMMP2L_ENST00000452895.1_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	638					positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		AGGCCTTCTGGGGATTATTGG	0.413																																						dbGAP											0													86.0	86.0	86.0					7																	110764740		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17200	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 5"""					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.1912G>C	7.37:g.110764740G>C	ENSP00000412417:p.Gly638Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	O43377|Q6I9V8|Q8IYQ6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like	p.G638R	ENST00000422987.3	37	c.1912	CCDS5754.1	7	.	.	.	.	.	.	.	.	.	.	G	24.0	4.481553	0.84747	.	.	ENSG00000173114	ENST00000308478;ENST00000451085;ENST00000422987	T;T;T	0.41400	1.0;1.0;1.0	5.87	5.87	0.94306	.	0.093564	0.46758	D	0.000265	T	0.46889	0.1416	M	0.70595	2.14	0.47949	D	0.999554	P	0.39216	0.664	B	0.34242	0.178	T	0.52533	-0.8563	10	0.66056	D	0.02	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	638	Q9H3W5	LRRN3_HUMAN	R	638	ENSP00000312001:G638R;ENSP00000397312:G638R;ENSP00000412417:G638R	ENSP00000312001:G638R	G	+	1	0	LRRN3	110551976	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.558000	0.82253	2.941000	0.99782	0.655000	0.94253	GGG	LRRN3	-	NULL	ENSG00000173114		0.413	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LRRN3	HGNC	protein_coding	OTTHUMT00000338171.2	51	0.00	0	G	NM_018334		110764740	110764740	+1	no_errors	ENST00000308478	ensembl	human	known	69_37n	missense	58	23.68	18	SNP	1.000	C
LRRN4	164312	genome.wustl.edu	37	20	6031627	6031627	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:6031627C>G	ENST00000378858.4	-	3	882	c.658G>C	c.(658-660)Gag>Cag	p.E220Q		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	220					long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						CACCCTGACTCAACTGAAACA	0.552																																						dbGAP											0													60.0	54.0	56.0					20																	6031627		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL118505	CCDS13097.1	20p12.3	2013-02-11	2008-05-20	2008-05-20	ENSG00000125872	ENSG00000125872		"""Fibronectin type III domain containing"""	16208	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 75"""	C20orf75		15870286	Standard	NM_152611		Approved	dJ1056H1.1, NLRR4	uc002wmo.3	Q8WUT4	OTTHUMG00000031825	ENST00000378858.4:c.658G>C	20.37:g.6031627C>G	ENSP00000368135:p.Glu220Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K258|Q5JWV6|Q9H419	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.E220Q	ENST00000378858.4	37	c.658	CCDS13097.1	20	.	.	.	.	.	.	.	.	.	.	C	2.913	-0.224943	0.06022	.	.	ENSG00000125872	ENST00000378858	T	0.58940	0.3	5.68	4.74	0.60224	.	0.539313	0.18247	N	0.147043	T	0.30541	0.0768	N	0.03177	-0.4	0.24839	N	0.992477	B;B	0.09022	0.002;0.001	B;B	0.08055	0.001;0.003	T	0.08432	-1.0722	10	0.02654	T	1	-8.762	14.0582	0.64784	0.0:0.4628:0.5372:0.0	.	220;220	Q6ZMD1;Q8WUT4	.;LRRN4_HUMAN	Q	220	ENSP00000368135:E220Q	ENSP00000368135:E220Q	E	-	1	0	LRRN4	5979627	0.115000	0.22152	0.797000	0.32132	0.839000	0.47603	1.737000	0.38197	1.422000	0.47177	0.491000	0.48974	GAG	LRRN4	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000125872		0.552	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRN4	HGNC	protein_coding	OTTHUMT00000077907.2	61	0.00	0	C	NM_152611		6031627	6031627	-1	no_errors	ENST00000378858	ensembl	human	known	69_37n	missense	89	24.58	29	SNP	0.866	G
LRRTM1	347730	genome.wustl.edu	37	2	80529760	80529760	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:80529760C>T	ENST00000295057.3	-	2	1841	c.1185G>A	c.(1183-1185)gcG>gcA	p.A395A	CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000541047.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.A395A|CTNNA2_ENST00000496558.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	395					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CCCCGCCGTCCGCGAGCGTGG	0.716										HNSCC(69;0.2)																												dbGAP											0													19.0	20.0	20.0					2																	80529760		2196	4287	6483	-	-	-	SO:0001819	synonymous_variant	0			AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.1185G>A	2.37:g.80529760C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K397|D6W5K1|Q96DN1	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.A395	ENST00000295057.3	37	c.1185	CCDS1966.1	2																																																																																			LRRTM1	-	NULL	ENSG00000162951		0.716	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRTM1	HGNC	protein_coding	OTTHUMT00000313614.1	17	0.00	0	C	NM_178839		80529760	80529760	-1	no_errors	ENST00000295057	ensembl	human	known	69_37n	silent	4	50.00	4	SNP	0.000	T
LRRTM2	26045	genome.wustl.edu	37	5	138210021	138210021	+	Missense_Mutation	SNP	C	C	G	rs201299132		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:138210021C>G	ENST00000274711.6	-	2	607	c.229G>C	c.(229-231)Gaa>Caa	p.E77Q	CTNNA1_ENST00000540387.1_5'Flank|LRRTM2_ENST00000518785.1_Intron|LRRTM2_ENST00000521094.2_Intron|LRRTM2_ENST00000523537.1_Intron|CTNNA1_ENST00000302763.7_Intron|CTNNA1_ENST00000355078.5_Intron|CTNNA1_ENST00000518825.1_Intron|CTNNA1_ENST00000520400.1_Intron	NM_015564.2	NP_056379.1	O43300	LRRT2_HUMAN	leucine rich repeat transmembrane neuronal 2	77					long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|synapse organization (GO:0050808)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|urinary_tract(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGATCTCTTTCGAGCTCTGTG	0.463																																						dbGAP											0													80.0	77.0	78.0					5																	138210021		1927	4154	6081	-	-	-	SO:0001583	missense	0			AB007876	CCDS47272.1	5q31	2008-02-05				ENSG00000146006			19409	protein-coding gene	gene with protein product		610868				12676565	Standard	NM_015564		Approved	KIAA0416	uc011cyz.1	O43300		ENST00000274711.6:c.229G>C	5.37:g.138210021C>G	ENSP00000274711:p.Glu77Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVL3|A8K4U9|B7ZLN8|Q7L770	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.E77Q	ENST00000274711.6	37	c.229	CCDS47272.1	5	.	.	.	.	.	.	.	.	.	.	C	9.274	1.046333	0.19748	.	.	ENSG00000146006	ENST00000274711	T	0.04454	3.62	5.28	5.28	0.74379	.	0.144342	0.53938	D	0.000059	T	0.04815	0.0130	L	0.34521	1.04	0.41321	D	0.987178	B	0.19073	0.033	B	0.12156	0.007	T	0.45804	-0.9236	10	0.15952	T	0.53	.	14.341	0.66627	0.0:0.8519:0.1481:0.0	.	77	O43300	LRRT2_HUMAN	Q	77	ENSP00000274711:E77Q	ENSP00000274711:E77Q	E	-	1	0	LRRTM2	138237920	0.986000	0.35501	0.995000	0.50966	0.997000	0.91878	2.089000	0.41672	2.756000	0.94617	0.655000	0.94253	GAA	LRRTM2	-	NULL	ENSG00000146006		0.463	LRRTM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRTM2	HGNC	protein_coding	OTTHUMT00000374043.2	98	0.00	0	C			138210021	138210021	-1	no_errors	ENST00000274711	ensembl	human	known	69_37n	missense	63	25.88	22	SNP	0.994	G
LRRTM2	26045	genome.wustl.edu	37	5	138210060	138210060	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:138210060G>C	ENST00000274711.6	-	2	568	c.190C>G	c.(190-192)Ctg>Gtg	p.L64V	CTNNA1_ENST00000540387.1_5'Flank|LRRTM2_ENST00000518785.1_Intron|LRRTM2_ENST00000521094.2_Intron|LRRTM2_ENST00000523537.1_Intron|CTNNA1_ENST00000302763.7_Intron|CTNNA1_ENST00000355078.5_Intron|CTNNA1_ENST00000518825.1_Intron|CTNNA1_ENST00000520400.1_Intron	NM_015564.2	NP_056379.1	O43300	LRRT2_HUMAN	leucine rich repeat transmembrane neuronal 2	64					long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|synapse organization (GO:0050808)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|urinary_tract(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GACAGGCCCAGAGAGCCCTTG	0.527																																						dbGAP											0													59.0	58.0	58.0					5																	138210060		1974	4164	6138	-	-	-	SO:0001583	missense	0			AB007876	CCDS47272.1	5q31	2008-02-05				ENSG00000146006			19409	protein-coding gene	gene with protein product		610868				12676565	Standard	NM_015564		Approved	KIAA0416	uc011cyz.1	O43300		ENST00000274711.6:c.190C>G	5.37:g.138210060G>C	ENSP00000274711:p.Leu64Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVL3|A8K4U9|B7ZLN8|Q7L770	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.L64V	ENST00000274711.6	37	c.190	CCDS47272.1	5	.	.	.	.	.	.	.	.	.	.	G	9.885	1.202691	0.22121	.	.	ENSG00000146006	ENST00000274711	T	0.04275	3.66	5.28	2.49	0.30216	.	0.000000	0.64402	D	0.000008	T	0.02418	0.0074	N	0.05554	-0.025	0.48762	D	0.999707	P	0.39831	0.69	B	0.39152	0.292	T	0.62210	-0.6902	10	0.23891	T	0.37	.	6.033	0.19690	0.1425:0.0:0.5921:0.2653	.	64	O43300	LRRT2_HUMAN	V	64	ENSP00000274711:L64V	ENSP00000274711:L64V	L	-	1	2	LRRTM2	138237959	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	2.702000	0.47102	0.353000	0.24079	0.655000	0.94253	CTG	LRRTM2	-	NULL	ENSG00000146006		0.527	LRRTM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRTM2	HGNC	protein_coding	OTTHUMT00000374043.2	70	0.00	0	G			138210060	138210060	-1	no_errors	ENST00000274711	ensembl	human	known	69_37n	missense	45	28.57	18	SNP	1.000	C
LRWD1	222229	genome.wustl.edu	37	7	102108582	102108582	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:102108582C>T	ENST00000292616.5	+	6	904	c.752C>T	c.(751-753)tCc>tTc	p.S251F	MIR5090_ENST00000582533.1_RNA	NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	251					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA replication initiation (GO:0006270)|establishment of protein localization to chromatin (GO:0071169)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|telomeric heterochromatin (GO:0031933)	chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						GCGTGTGCCTCCCCGTCGGCC	0.692																																						dbGAP											0													49.0	51.0	50.0					7																	102108582		2197	4297	6494	-	-	-	SO:0001583	missense	0			AL133057	CCDS34715.1	7q22.1	2013-01-10			ENSG00000161036	ENSG00000161036		"""WD repeat domain containing"""	21769	protein-coding gene	gene with protein product	"""origin recognition complex associated"", ""centromere protein 33"""	615167				20932478, 20850016, 20180869	Standard	NM_152892		Approved	DKFZp434K1815, ORCA, CENP-33	uc003uzn.3	Q9UFC0	OTTHUMG00000157718	ENST00000292616.5:c.752C>T	7.37:g.102108582C>T	ENSP00000292616:p.Ser251Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4K2|B2R9G2|Q8N0T9|Q8WV43|Q96GJ2	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Leu-rich_rpt,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S251F	ENST00000292616.5	37	c.752	CCDS34715.1	7	.	.	.	.	.	.	.	.	.	.	C	14.60	2.583482	0.46006	.	.	ENSG00000161036	ENST00000292616	T	0.62498	0.02	4.45	3.55	0.40652	.	0.449691	0.24497	N	0.038014	T	0.50565	0.1623	L	0.50333	1.59	0.29873	N	0.826639	B	0.34103	0.437	B	0.27500	0.08	T	0.55321	-0.8159	10	0.54805	T	0.06	-23.4701	8.9039	0.35512	0.0:0.895:0.0:0.105	.	251	Q9UFC0	LRWD1_HUMAN	F	251	ENSP00000292616:S251F	ENSP00000292616:S251F	S	+	2	0	LRWD1	101895587	0.052000	0.20516	0.043000	0.18650	0.225000	0.24961	1.176000	0.31957	1.194000	0.43101	0.462000	0.41574	TCC	LRWD1	-	NULL	ENSG00000161036		0.692	LRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRWD1	HGNC	protein_coding	OTTHUMT00000349493.1	48	0.00	0	C	NM_152892		102108582	102108582	+1	no_errors	ENST00000292616	ensembl	human	known	69_37n	missense	46	22.03	13	SNP	0.236	T
LSG1	55341	genome.wustl.edu	37	3	194373529	194373529	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:194373529C>G	ENST00000265245.5	-	8	1416	c.1102G>C	c.(1102-1104)Gag>Cag	p.E368Q		NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	368	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				GTP catabolic process (GO:0006184)|nuclear export (GO:0051168)|protein transport (GO:0015031)|ribosome biogenesis (GO:0042254)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		TCCAGTAACTCCTGCTTGGAT	0.468																																						dbGAP											0													160.0	155.0	157.0					3																	194373529		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33922.1	3q29	2013-08-21	2013-08-21		ENSG00000041802	ENSG00000041802			25652	protein-coding gene	gene with protein product		610780	"""large subunit GTPase 1 homolog (S. cerevisiae)"""			11230166	Standard	NM_018385		Approved	FLJ11301	uc003fui.3	Q9H089	OTTHUMG00000156021	ENST00000265245.5:c.1102G>C	3.37:g.194373529C>G	ENSP00000265245:p.Glu368Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A0JLT4|A0PJK3|A6NI18|Q7L9H8|Q9NUK8	Missense_Mutation	SNP	pfam_GTP_binding_domain,prints_GTP_binding_domain	p.E368Q	ENST00000265245.5	37	c.1102	CCDS33922.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.53|17.53	3.411708|3.411708	0.62399|0.62399	.|.	.|.	ENSG00000041802|ENSG00000041802	ENST00000265245|ENST00000437613	T|.	0.16073|.	2.37|.	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.61527|0.61527	0.2354|0.2354	L|L	0.37561|0.37561	1.115|1.115	0.80722|0.80722	D|D	1|1	P|.	0.47545|.	0.897|.	P|.	0.47941|.	0.562|.	T|T	0.54370|0.54370	-0.8304|-0.8304	10|5	0.40728|.	T|.	0.16|.	.|.	18.6471|18.6471	0.91415|0.91415	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	368|.	Q9H089|.	LSG1_HUMAN|.	Q|S	368|101	ENSP00000265245:E368Q|.	ENSP00000265245:E368Q|.	E|R	-|-	1|3	0|2	LSG1|LSG1	195854818|195854818	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.101000|0.101000	0.19017|0.19017	5.067000|5.067000	0.64357|0.64357	2.756000|2.756000	0.94617|0.94617	0.655000|0.655000	0.94253|0.94253	GAG|AGG	LSG1	-	NULL	ENSG00000041802		0.468	LSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LSG1	HGNC	protein_coding	OTTHUMT00000342740.1	107	0.00	0	C	NM_018385		194373529	194373529	-1	no_errors	ENST00000265245	ensembl	human	known	69_37n	missense	86	21.82	24	SNP	1.000	G
LSM14A	26065	genome.wustl.edu	37	19	34712455	34712455	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:34712455G>A	ENST00000433627.5	+	9	1255	c.1180G>A	c.(1180-1182)Gaa>Aaa	p.E394K	LSM14A_ENST00000540746.2_Missense_Mutation_p.E353K|LSM14A_ENST00000544216.3_Missense_Mutation_p.E394K	NM_001114093.1	NP_001107565.1	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	394					cytoplasmic mRNA processing body assembly (GO:0033962)|multicellular organismal development (GO:0007275)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of translation (GO:0006417)|RIG-I signaling pathway (GO:0039529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|intracellular membrane-bounded organelle (GO:0043231)	double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					ATTAAATGCTGAAACATTTGG	0.483																																						dbGAP											0													85.0	71.0	76.0					19																	34712455		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL834398	CCDS12435.1, CCDS46040.1	19q13.12	2010-01-27	2006-12-21	2006-01-24		ENSG00000257103			24489	protein-coding gene	gene with protein product		610677	"""chromosome 19 open reading frame 13"", ""family with sequence similarity 61, member A"", ""LSM14 homolog A (SCD6, S. cerevisiae)"""	C19orf13, FAM61A		12477932	Standard	NM_015578		Approved	DKFZP434D1335, RAP55A, RAP55	uc002nva.4	Q8ND56		ENST00000433627.5:c.1180G>A	19.37:g.34712455G>A	ENSP00000413964:p.Glu394Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DTG6|Q76LX7|Q96AR3|Q96K73|Q96SN5|Q9UFR3	Missense_Mutation	SNP	pfam_FDF_dom,superfamily_LSM_dom	p.E394K	ENST00000433627.5	37	c.1180	CCDS46040.1	19	.	.	.	.	.	.	.	.	.	.	g	36	5.809106	0.96975	.	.	ENSG00000257103	ENST00000544216;ENST00000433627;ENST00000540746	T;T;T	0.55234	0.53;0.54;0.54	5.96	5.96	0.96718	FFD/TFG box motif (1);	0.000000	0.85682	D	0.000000	T	0.80314	0.4600	M	0.91717	3.235	0.80722	D	1	D;D;D	0.89917	0.999;0.997;1.0	D;D;D	0.87578	0.995;0.992;0.998	T	0.83200	-0.0079	10	0.72032	D	0.01	-22.0281	20.4008	0.98991	0.0:0.0:1.0:0.0	.	353;394;394	B4DTG6;Q8ND56;Q8ND56-2	.;LS14A_HUMAN;.	K	394;394;353	ENSP00000446271:E394K;ENSP00000413964:E394K;ENSP00000446451:E353K	ENSP00000314768:E394K	E	+	1	0	LSM14A	39404295	1.000000	0.71417	0.983000	0.44433	0.996000	0.88848	9.382000	0.97209	2.826000	0.97356	0.655000	0.94253	GAA	LSM14A	-	NULL	ENSG00000257103		0.483	LSM14A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LSM14A	HGNC	protein_coding	OTTHUMT00000451576.3	127	0.00	0	G	NM_015578		34712455	34712455	+1	no_errors	ENST00000433627	ensembl	human	known	69_37n	missense	104	26.57	38	SNP	1.000	A
LTBP1	4052	genome.wustl.edu	37	2	33359906	33359906	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:33359906C>T	ENST00000404816.2	+	5	1433	c.1080C>T	c.(1078-1080)atC>atT	p.I360I	LTBP1_ENST00000404525.1_Silent_p.I34I|LTBP1_ENST00000402934.1_Silent_p.I34I|LTBP1_ENST00000390003.4_Silent_p.I34I|LTBP1_ENST00000354476.3_Silent_p.I360I|LTBP1_ENST00000407925.1_Silent_p.I34I|LTBP1_ENST00000418533.2_Silent_p.I34I			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	360					extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CTCCGAGCATCTGTAAAGTGA	0.512																																						dbGAP											0													107.0	93.0	98.0					2																	33359906		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.1080C>T	2.37:g.33359906C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Silent	SNP	pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EGF-like_dom,superfamily_TB_dom,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.I360	ENST00000404816.2	37	c.1080	CCDS33177.2	2																																																																																			LTBP1	-	NULL	ENSG00000049323		0.512	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	LTBP1	HGNC	protein_coding	OTTHUMT00000326227.2	40	0.00	0	C	NM_206943		33359906	33359906	+1	no_errors	ENST00000354476	ensembl	human	known	69_37n	silent	39	23.53	12	SNP	1.000	T
LTBP1	4052	genome.wustl.edu	37	2	33413719	33413719	+	Nonsense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:33413719C>G	ENST00000404816.2	+	7	1855	c.1502C>G	c.(1501-1503)tCa>tGa	p.S501*	LTBP1_ENST00000404525.1_Nonsense_Mutation_p.S175*|LTBP1_ENST00000402934.1_Nonsense_Mutation_p.S175*|LTBP1_ENST00000390003.4_Nonsense_Mutation_p.S175*|LTBP1_ENST00000354476.3_Nonsense_Mutation_p.S501*|LTBP1_ENST00000407925.1_Nonsense_Mutation_p.S175*|LTBP1_ENST00000418533.2_Nonsense_Mutation_p.S175*			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	501					extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CATCAGGTTTCAAGAATTGAT	0.458																																						dbGAP											0													100.0	94.0	96.0					2																	33413719		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.1502C>G	2.37:g.33413719C>G	ENSP00000386043:p.Ser501*	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Nonsense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EGF-like_dom,superfamily_TB_dom,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.S501*	ENST00000404816.2	37	c.1502	CCDS33177.2	2	.	.	.	.	.	.	.	.	.	.	C	31	5.096185	0.94197	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000432635;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.8694	0.96845	0.0:1.0:0.0:0.0	.	.	.	.	X	501;501;190;175;175;175;175;175	.	ENSP00000346467:S501X	S	+	2	0	LTBP1	33267223	1.000000	0.71417	0.987000	0.45799	0.967000	0.64934	7.191000	0.77763	2.714000	0.92807	0.549000	0.68633	TCA	LTBP1	-	NULL	ENSG00000049323		0.458	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	LTBP1	HGNC	protein_coding	OTTHUMT00000326227.2	64	0.00	0	C	NM_206943		33413719	33413719	+1	no_errors	ENST00000354476	ensembl	human	known	69_37n	nonsense	54	28.00	21	SNP	1.000	G
LTBP2	4053	genome.wustl.edu	37	14	74989546	74989546	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:74989546C>G	ENST00000261978.4	-	16	2992	c.2606G>C	c.(2605-2607)aGa>aCa	p.R869T	LTBP2_ENST00000556690.1_Missense_Mutation_p.R869T	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	869	Cys-rich.|EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GCAGACACATCTGTATCCATC	0.602																																						dbGAP											0													58.0	42.0	48.0					14																	74989546		2202	4300	6502	-	-	-	SO:0001583	missense	0				CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.2606G>C	14.37:g.74989546C>G	ENSP00000261978:p.Arg869Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q99907|Q9NS51	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EGF-like_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.R869T	ENST00000261978.4	37	c.2606	CCDS9831.1	14	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.906102	0.00512	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	D;D	0.87029	-2.2;-2.2	4.75	0.628	0.17681	Epidermal growth factor-like (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.456393	0.18593	N	0.136673	T	0.66366	0.2782	N	0.10629	0.01	0.24658	N	0.993481	B	0.06786	0.001	B	0.09377	0.004	T	0.52373	-0.8584	10	0.06891	T	0.86	.	5.9795	0.19399	0.0:0.342:0.4665:0.1916	.	869	Q14767	LTBP2_HUMAN	T	869	ENSP00000261978:R869T;ENSP00000451477:R869T	ENSP00000261978:R869T	R	-	2	0	LTBP2	74059299	0.006000	0.16342	0.985000	0.45067	0.027000	0.11550	-1.039000	0.03550	-0.058000	0.13177	0.655000	0.94253	AGA	LTBP2	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom	ENSG00000119681		0.602	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTBP2	HGNC	protein_coding	OTTHUMT00000413595.1	35	0.00	0	C	NM_000428		74989546	74989546	-1	no_errors	ENST00000261978	ensembl	human	known	69_37n	missense	20	58.33	28	SNP	0.982	G
LTBP2	4053	genome.wustl.edu	37	14	75019024	75019024	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:75019024G>A	ENST00000261978.4	-	6	1651	c.1265C>T	c.(1264-1266)tCc>tTc	p.S422F	LTBP2_ENST00000557425.1_Intron|CTD-2207P18.1_ENST00000554552.1_lincRNA|LTBP2_ENST00000556690.1_Missense_Mutation_p.S422F	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	422	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CTTCCCGGTGGAGTTGGCGGG	0.652																																						dbGAP											0													38.0	39.0	39.0					14																	75019024		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.1265C>T	14.37:g.75019024G>A	ENSP00000261978:p.Ser422Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q99907|Q9NS51	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EGF-like_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.S422F	ENST00000261978.4	37	c.1265	CCDS9831.1	14	.	.	.	.	.	.	.	.	.	.	g	15.82	2.946710	0.53186	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	D;D	0.89050	-2.46;-2.46	4.9	4.9	0.64082	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.39615	N	0.001308	T	0.76364	0.3977	N	0.00116	-2.08	0.33080	D	0.536453	D	0.76494	0.999	D	0.83275	0.996	T	0.76285	-0.3015	10	0.02654	T	1	.	16.2921	0.82757	0.0:0.0:1.0:0.0	.	422	Q14767	LTBP2_HUMAN	F	422	ENSP00000261978:S422F;ENSP00000451477:S422F	ENSP00000261978:S422F	S	-	2	0	LTBP2	74088777	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.170000	0.77587	2.245000	0.73994	0.550000	0.68814	TCC	LTBP2	-	smart_EGF-like,pfscan_EG-like_dom	ENSG00000119681		0.652	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTBP2	HGNC	protein_coding	OTTHUMT00000413595.1	19	0.00	0	G	NM_000428		75019024	75019024	-1	no_errors	ENST00000261978	ensembl	human	known	69_37n	missense	7	41.67	5	SNP	1.000	A
LTBP3	4054	genome.wustl.edu	37	11	65319033	65319033	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:65319033C>A	ENST00000301873.5	-	9	1802	c.1534G>T	c.(1534-1536)Gtg>Ttg	p.V512L	LTBP3_ENST00000532932.1_5'Flank|LTBP3_ENST00000536982.1_Missense_Mutation_p.V138L|LTBP3_ENST00000322147.4_Missense_Mutation_p.V512L	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	512					bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|extracellular matrix organization (GO:0030198)|lung saccule development (GO:0060430)|negative regulation of bone mineralization (GO:0030502)|negative regulation of chondrocyte differentiation (GO:0032331)|positive regulation of bone resorption (GO:0045780)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of mesenchymal stem cell proliferation (GO:1902462)|transforming growth factor beta activation (GO:0036363)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						TCCGTGGTCACCCCTAAAAGG	0.592																																						dbGAP											0													58.0	52.0	54.0					11																	65319033		2201	4297	6498	-	-	-	SO:0001583	missense	0			AF135960	CCDS8103.1, CCDS44647.1	11q12	2011-10-20			ENSG00000168056	ENSG00000168056		"""Latent transforming growth factor, beta binding proteins"""	6716	protein-coding gene	gene with protein product		602090		LTBP2		7719025	Standard	NM_001164266		Approved		uc001oej.3	Q9NS15	OTTHUMG00000166575	ENST00000301873.5:c.1534G>T	11.37:g.65319033C>A	ENSP00000301873:p.Val512Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	O15107|Q96HB9|Q9H7K2|Q9UFN4	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_TB_dom,superfamily_TB_dom,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.V512L	ENST00000301873.5	37	c.1534	CCDS44647.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.99|14.99	2.701144|2.701144	0.48307|0.48307	.|.	.|.	ENSG00000168056|ENSG00000168056	ENST00000526927|ENST00000322147;ENST00000301873;ENST00000536982;ENST00000530866	T|T;T;T;T	0.79940|0.81078	-1.32|-1.37;-1.45;-1.32;-1.35	4.71|4.71	3.78|3.78	0.43462|0.43462	.|.	.|1.091600	.|0.07181	.|N	.|0.853950	T|T	0.68165|0.68165	0.2971|0.2971	N|N	0.24115|0.24115	0.695|0.695	0.28610|0.28610	N|N	0.908731|0.908731	.|B;B;B;B;B	.|0.02656	.|0.0;0.0;0.0;0.0;0.0	.|B;B;B;B;B	.|0.04013	.|0.001;0.001;0.001;0.001;0.001	T|T	0.52124|0.52124	-0.8617|-0.8617	7|10	0.11182|0.10902	T|T	0.66|0.67	.|.	10.0082|10.0082	0.41970|0.41970	0.2025:0.7975:0.0:0.0|0.2025:0.7975:0.0:0.0	.|.	.|423;138;395;512;512	.|E9PKW1;F5GWC4;B9EG76;Q9NS15;Q9NS15-2	.|.;.;.;LTBP3_HUMAN;.	V|L	162|512;512;138;423	ENSP00000431219:G162V|ENSP00000326647:V512L;ENSP00000301873:V512L;ENSP00000441912:V138L;ENSP00000435276:V423L	ENSP00000431219:G162V|ENSP00000301873:V512L	G|V	-|-	2|1	0|0	LTBP3|LTBP3	65075609|65075609	0.992000|0.992000	0.36948|0.36948	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	1.806000|1.806000	0.38892|0.38892	0.940000|0.940000	0.37473|0.37473	0.400000|0.400000	0.26472|0.26472	GGT|GTG	LTBP3	-	NULL	ENSG00000168056		0.592	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTBP3	HGNC	protein_coding	OTTHUMT00000390538.1	43	0.00	0	C	NM_021070		65319033	65319033	-1	no_errors	ENST00000301873	ensembl	human	known	69_37n	missense	86	16.35	17	SNP	1.000	A
LTBR	4055	genome.wustl.edu	37	12	6497587	6497587	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:6497587C>G	ENST00000228918.4	+	7	1017	c.691C>G	c.(691-693)Ctg>Gtg	p.L231V	LTBR_ENST00000539925.1_Missense_Mutation_p.L212V|LTBR_ENST00000543190.1_3'UTR|LTBR_ENST00000541102.1_Intron	NM_002342.2	NP_002333.1	P36941	TNR3_HUMAN	lymphotoxin beta receptor (TNFR superfamily, member 3)	231					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						GCTGGCCGTTCTGCTGCCACT	0.577																																						dbGAP											0													98.0	84.0	88.0					12																	6497587		2203	4300	6503	-	-	-	SO:0001583	missense	0			L04270	CCDS8544.1, CCDS59233.1	12p13	2013-05-22				ENSG00000111321		"""Tumor necrosis factor receptor superfamily"""	6718	protein-coding gene	gene with protein product		600979		D12S370		8171323, 8486360	Standard	NM_002342		Approved	TNFCR, TNFR-RP, TNFR2-RP, TNF-R-III, TNFRSF3	uc001qny.2	P36941		ENST00000228918.4:c.691C>G	12.37:g.6497587C>G	ENSP00000228918:p.Leu231Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z1D2|D3DUR2|F5GXE7	Missense_Mutation	SNP	pirsf_TNFR_3_LTBR,pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,prints_TNFR_3_LTBR,pfscan_TNFR/NGFR_Cys_rich_reg	p.L231V	ENST00000228918.4	37	c.691	CCDS8544.1	12	.	.	.	.	.	.	.	.	.	.	C	11.39	1.625094	0.28889	.	.	ENSG00000111321	ENST00000539925;ENST00000228918;ENST00000540343	D;D	0.88201	-2.35;-2.35	5.03	3.19	0.36642	.	2.391170	0.01988	N	0.045318	D	0.89319	0.6681	L	0.32530	0.975	0.80722	D	1	P;P;D	0.67145	0.95;0.916;0.996	P;B;P	0.58266	0.684;0.35;0.836	T	0.78732	-0.2089	10	0.21540	T	0.41	-3.6845	6.4096	0.21684	0.1785:0.7294:0.0:0.0921	.	212;212;231	F5GXE7;B7Z1D2;P36941	.;.;TNR3_HUMAN	V	212;231;124	ENSP00000440875:L212V;ENSP00000228918:L231V	ENSP00000228918:L231V	L	+	1	2	LTBR	6367848	0.984000	0.35163	0.964000	0.40570	0.070000	0.16714	0.393000	0.20817	0.697000	0.31718	0.561000	0.74099	CTG	LTBR	-	pirsf_TNFR_3_LTBR	ENSG00000111321		0.577	LTBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTBR	HGNC	protein_coding	OTTHUMT00000399422.1	96	0.00	0	C			6497587	6497587	+1	no_errors	ENST00000228918	ensembl	human	known	69_37n	missense	44	31.25	20	SNP	0.978	G
LTK	4058	genome.wustl.edu	37	15	41796311	41796311	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:41796311C>G	ENST00000263800.6	-	20	2574	c.2478G>C	c.(2476-2478)gaG>gaC	p.E826D	LTK_ENST00000561619.1_Missense_Mutation_p.E524D|LTK_ENST00000453182.2_Missense_Mutation_p.E696D|LTK_ENST00000355166.5_Missense_Mutation_p.E765D	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	826					cell proliferation (GO:0008283)|cellular response to retinoic acid (GO:0071300)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of neuron projection development (GO:0010976)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		TTTTCAACTTCTCTGGACTCA	0.602										TSP Lung(18;0.14)																												dbGAP											0													47.0	55.0	53.0					15																	41796311		2203	4300	6503	-	-	-	SO:0001583	missense	0			D16105	CCDS10077.1, CCDS10078.1, CCDS45237.1	15q15.1-q21.1	2009-07-10	2008-01-23		ENSG00000062524	ENSG00000062524	2.7.10.1		6721	protein-coding gene	gene with protein product		151520	"""leukocyte tyrosine kinase"""			2320375	Standard	NM_206961		Approved	TYK1	uc001zoa.3	P29376	OTTHUMG00000130339	ENST00000263800.6:c.2478G>C	15.37:g.41796311C>G	ENSP00000263800:p.Glu826Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NNJ8|B4DL89|E9PFX4	Missense_Mutation	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.E826D	ENST00000263800.6	37	c.2478	CCDS10077.1	15	.	.	.	.	.	.	.	.	.	.	C	2.225	-0.377463	0.05000	.	.	ENSG00000062524	ENST00000355166;ENST00000263800;ENST00000453182	T;T;T	0.76060	-0.99;-0.77;-0.94	4.87	1.69	0.24217	.	0.530409	0.14026	U	0.346490	T	0.48466	0.1501	N	0.08118	0	0.09310	N	1	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.06405	0.001;0.0;0.002;0.001	T	0.27872	-1.0061	10	0.10902	T	0.67	.	8.1951	0.31392	0.0:0.6144:0.2987:0.087	.	696;696;765;826	E9PFX4;B4DL89;P29376-4;P29376	.;.;.;LTK_HUMAN	D	765;826;696	ENSP00000347293:E765D;ENSP00000263800:E826D;ENSP00000392196:E696D	ENSP00000263800:E826D	E	-	3	2	LTK	39583603	0.022000	0.18835	0.002000	0.10522	0.002000	0.02628	1.590000	0.36654	0.728000	0.32382	-0.136000	0.14681	GAG	LTK	-	NULL	ENSG00000062524		0.602	LTK-001	KNOWN	basic|CCDS	protein_coding	LTK	HGNC	protein_coding	OTTHUMT00000252690.2	33	0.00	0	C			41796311	41796311	-1	no_errors	ENST00000263800	ensembl	human	known	69_37n	missense	38	28.30	15	SNP	0.000	G
LTN1	26046	genome.wustl.edu	37	21	30365115	30365115	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr21:30365115C>T	ENST00000361371.5	-	1	91	c.12G>A	c.(10-12)aaG>aaA	p.K4K	LTN1_ENST00000389194.2_Silent_p.K50K|LTN1_ENST00000389195.2_Silent_p.K50K			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	4					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						GCTGCTTGTTCTTCCCGCCCA	0.667																																						dbGAP											0													76.0	59.0	65.0					21																	30365115		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.12G>A	21.37:g.30365115C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Silent	SNP	pfam_Znf_C3HC4_RING-type,superfamily_ARM-type_fold,smart_Znf_RING-CH,pfscan_Znf_RING	p.K4	ENST00000361371.5	37	c.12		21																																																																																			LTN1	-	NULL	ENSG00000198862		0.667	LTN1-008	NOVEL	basic|appris_principal	protein_coding	LTN1	HGNC	protein_coding	OTTHUMT00000472108.1	46	0.00	0	C	NM_015565		30365115	30365115	-1	no_errors	ENST00000361371	ensembl	human	known	69_37n	silent	29	29.27	12	SNP	1.000	T
LUZP1	7798	genome.wustl.edu	37	1	23417965	23417965	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:23417965C>A	ENST00000302291.4	-	4	3591	c.2790G>T	c.(2788-2790)ttG>ttT	p.L930F	LUZP1_ENST00000314174.5_Missense_Mutation_p.L930F|LUZP1_ENST00000374623.3_Missense_Mutation_p.L930F|LUZP1_ENST00000418342.1_Missense_Mutation_p.L930F			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	930					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		CTAAAGATTTCAAGTCTCGCC	0.483																																						dbGAP											0													107.0	109.0	108.0					1																	23417965		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.2790G>T	1.37:g.23417965C>A	ENSP00000303758:p.Leu930Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TH93|Q8N4X3|Q8TEH1	Missense_Mutation	SNP	NULL	p.L930F	ENST00000302291.4	37	c.2790	CCDS30628.1	1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.831809	0.32421	.	.	ENSG00000169641	ENST00000418342;ENST00000374623;ENST00000302291;ENST00000314174	T;T;T;T	0.24538	2.05;2.05;2.05;1.85	5.08	3.08	0.35506	.	0.000000	0.39475	N	0.001347	T	0.35970	0.0950	L	0.57536	1.79	0.25342	N	0.988944	D;D	0.58268	0.982;0.982	P;P	0.58454	0.839;0.839	T	0.08932	-1.0698	10	0.62326	D	0.03	.	6.0943	0.20010	0.0:0.6683:0.1567:0.175	.	930;930	Q86V48-2;Q86V48	.;LUZP1_HUMAN	F	930	ENSP00000393460:L930F;ENSP00000363752:L930F;ENSP00000303758:L930F;ENSP00000313705:L930F	ENSP00000303758:L930F	L	-	3	2	LUZP1	23290552	0.851000	0.29673	1.000000	0.80357	0.900000	0.52787	-0.271000	0.08572	1.157000	0.42530	0.485000	0.47835	TTG	LUZP1	-	NULL	ENSG00000169641		0.483	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LUZP1	HGNC	protein_coding	OTTHUMT00000008900.3	58	0.00	0	C	NM_033631		23417965	23417965	-1	no_errors	ENST00000302291	ensembl	human	known	69_37n	missense	49	19.67	12	SNP	0.999	A
LUZP1	7798	genome.wustl.edu	37	1	23419095	23419095	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:23419095G>A	ENST00000302291.4	-	4	2461	c.1660C>T	c.(1660-1662)Cag>Tag	p.Q554*	LUZP1_ENST00000314174.5_Nonsense_Mutation_p.Q554*|LUZP1_ENST00000374623.3_Nonsense_Mutation_p.Q554*|LUZP1_ENST00000418342.1_Nonsense_Mutation_p.Q554*			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	554					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		TTTGCAGCCTGAGTTACTTGA	0.537																																						dbGAP											0													105.0	91.0	96.0					1																	23419095		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.1660C>T	1.37:g.23419095G>A	ENSP00000303758:p.Gln554*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TH93|Q8N4X3|Q8TEH1	Nonsense_Mutation	SNP	NULL	p.Q554*	ENST00000302291.4	37	c.1660	CCDS30628.1	1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.823774	0.90873	.	.	ENSG00000169641	ENST00000418342;ENST00000374623;ENST00000302291;ENST00000314174	.	.	.	5.21	4.22	0.49857	.	0.317230	0.23072	N	0.052246	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	7.8918	0.29682	0.22:0.0:0.78:0.0	.	.	.	.	X	554	.	ENSP00000303758:Q554X	Q	-	1	0	LUZP1	23291682	0.005000	0.15991	0.524000	0.27887	0.803000	0.45373	1.690000	0.37711	2.723000	0.93209	0.650000	0.86243	CAG	LUZP1	-	NULL	ENSG00000169641		0.537	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LUZP1	HGNC	protein_coding	OTTHUMT00000008900.3	56	0.00	0	G	NM_033631		23419095	23419095	-1	no_errors	ENST00000302291	ensembl	human	known	69_37n	nonsense	51	28.17	20	SNP	0.003	A
LUZP4	51213	genome.wustl.edu	37	X	114537906	114537906	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:114537906G>A	ENST00000371920.3	+	3	272	c.265G>A	c.(265-267)Gat>Aat	p.D89N	LUZP4_ENST00000451986.2_Intron	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	89						nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						AGGAAATCATGATAAAAAACC	0.343																																						dbGAP											0													125.0	118.0	120.0					X																	114537906		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF124430	CCDS14567.1	Xq24	2009-03-25			ENSG00000102021	ENSG00000102021			24971	protein-coding gene	gene with protein product	"""cancer/testis antigen 28"""	300616				12032826, 11051238	Standard	XM_005268343		Approved	HOM-TES-85, CT-8, CT28	uc004eqa.3	Q9P127	OTTHUMG00000022234	ENST00000371920.3:c.265G>A	X.37:g.114537906G>A	ENSP00000360988:p.Asp89Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KSD6	Missense_Mutation	SNP	NULL	p.D89N	ENST00000371920.3	37	c.265	CCDS14567.1	X	.	.	.	.	.	.	.	.	.	.	G	14.35	2.507828	0.44558	.	.	ENSG00000102021	ENST00000371920	T	0.35236	1.32	3.3	2.43	0.29744	.	.	.	.	.	T	0.25938	0.0632	N	0.19112	0.55	0.09310	N	0.999999	P	0.50943	0.94	P	0.46275	0.51	T	0.07829	-1.0752	9	0.62326	D	0.03	.	5.6027	0.17363	0.1547:0.0:0.8453:0.0	.	89	Q9P127	LUZP4_HUMAN	N	89	ENSP00000360988:D89N	ENSP00000360988:D89N	D	+	1	0	LUZP4	114444162	0.123000	0.22298	0.013000	0.15412	0.100000	0.18952	0.042000	0.13949	0.780000	0.33566	0.513000	0.50165	GAT	LUZP4	-	NULL	ENSG00000102021		0.343	LUZP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LUZP4	HGNC	protein_coding	OTTHUMT00000057972.1	120	0.00	0	G	NM_016383		114537906	114537906	+1	no_errors	ENST00000371920	ensembl	human	known	69_37n	missense	32	51.52	34	SNP	0.014	A
LYAR	55646	genome.wustl.edu	37	4	4276354	4276354	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:4276354C>G	ENST00000343470.4	-	7	812	c.572G>C	c.(571-573)aGa>aCa	p.R191T	LYAR_ENST00000452476.1_Missense_Mutation_p.R191T	NM_017816.2	NP_060286	Q9NX58	LYAR_HUMAN	Ly1 antibody reactive	191	Lys-rich.					nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ttcttcctttctttctctttt	0.433																																						dbGAP											0													135.0	125.0	129.0					4																	4276354		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL136750	CCDS3374.1	4p16.3	2013-01-10	2012-12-07		ENSG00000145220	ENSG00000145220		"""Zinc fingers, C2HC-type containing"""	26021	protein-coding gene	gene with protein product			"""Ly1 antibody reactive homolog (mouse)"""			11230166, 8491376	Standard	NM_001145725		Approved	ZC2HC2, ZLYAR	uc003ght.3	Q9NX58	OTTHUMG00000125477	ENST00000343470.4:c.572G>C	4.37:g.4276354C>G	ENSP00000345917:p.Arg191Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DVS4|Q6FI78|Q9NYS1	Missense_Mutation	SNP	pfam_Znf_C2H2_LYAR	p.R191T	ENST00000343470.4	37	c.572	CCDS3374.1	4	.	.	.	.	.	.	.	.	.	.	C	8.855	0.945443	0.18356	.	.	ENSG00000145220	ENST00000343470;ENST00000452476	T;T	0.31769	1.48;1.48	5.09	3.34	0.38264	.	0.601696	0.16872	N	0.196069	T	0.30008	0.0751	M	0.71581	2.175	0.27472	N	0.952835	P	0.43094	0.799	B	0.40901	0.343	T	0.23119	-1.0197	10	0.42905	T	0.14	-15.9664	4.4477	0.11606	0.1567:0.5911:0.0:0.2521	.	191	Q9NX58	LYAR_HUMAN	T	191	ENSP00000345917:R191T;ENSP00000397367:R191T	ENSP00000345917:R191T	R	-	2	0	LYAR	4327255	0.817000	0.29147	0.861000	0.33841	0.110000	0.19582	0.308000	0.19314	0.630000	0.30394	0.655000	0.94253	AGA	LYAR	-	NULL	ENSG00000145220		0.433	LYAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYAR	HGNC	protein_coding	OTTHUMT00000246800.2	209	0.00	0	C	NM_017816		4276354	4276354	-1	no_errors	ENST00000343470	ensembl	human	known	69_37n	missense	167	22.33	48	SNP	0.573	G
LYN	4067	genome.wustl.edu	37	8	56854475	56854475	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:56854475G>C	ENST00000519728.1	+	2	353	c.57G>C	c.(55-57)ttG>ttC	p.L19F	LYN_ENST00000520220.2_Missense_Mutation_p.L19F	NM_002350.3	NP_002341.1	P07948	LYN_HUMAN	LYN proto-oncogene, Src family tyrosine kinase	19					B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to heat (GO:0034605)|cellular response to retinoic acid (GO:0071300)|cytokine secretion (GO:0050663)|dendritic cell differentiation (GO:0097028)|erythrocyte differentiation (GO:0030218)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|Fc receptor mediated stimulatory signaling pathway (GO:0002431)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|histamine secretion by mast cell (GO:0002553)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of immune response (GO:0050777)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell proliferation (GO:0070667)|negative regulation of myeloid leukocyte differentiation (GO:0002762)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|neuron projection development (GO:0031175)|oligodendrocyte development (GO:0014003)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oligodendrocyte progenitor proliferation (GO:0070447)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of stress-activated protein kinase signaling cascade (GO:0070304)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cytokine production (GO:0001817)|regulation of cytokine secretion (GO:0050707)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of erythrocyte differentiation (GO:0045646)|regulation of inflammatory response (GO:0050727)|regulation of mast cell activation (GO:0033003)|regulation of mast cell degranulation (GO:0043304)|regulation of monocyte chemotaxis (GO:0090025)|regulation of platelet aggregation (GO:0090330)|regulation of protein phosphorylation (GO:0001932)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to hormone (GO:0009725)|response to insulin (GO:0032868)|response to organic cyclic compound (GO:0014070)|response to sterol depletion (GO:0006991)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|T cell costimulation (GO:0031295)|tolerance induction to self antigen (GO:0002513)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integrin alpha2-beta1 complex (GO:0034666)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycosphingolipid binding (GO:0043208)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)		Bosutinib(DB06616)|Ponatinib(DB08901)	GAGTAGATTTGAAGACTCAAC	0.368																																						dbGAP											0													111.0	101.0	104.0					8																	56854475		2203	4300	6503	-	-	-	SO:0001583	missense	0			M16038	CCDS6162.1, CCDS47859.1	8q13	2014-06-25	2014-06-25		ENSG00000254087	ENSG00000254087		"""SH2 domain containing"""	6735	protein-coding gene	gene with protein product		165120	"""v-yes-1 Yamaguchi sarcoma viral related oncogene homolog"""			3561390	Standard	NM_002350		Approved	JTK8	uc003xsk.4	P07948	OTTHUMG00000044345	ENST00000519728.1:c.57G>C	8.37:g.56854475G>C	ENSP00000428924:p.Leu19Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVQ5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.L19F	ENST00000519728.1	37	c.57	CCDS6162.1	8	.	.	.	.	.	.	.	.	.	.	G	15.63	2.889693	0.52014	.	.	ENSG00000254087	ENST00000519728;ENST00000520220;ENST00000520050	T;T;T	0.74947	-0.8;-0.89;0.98	5.72	5.72	0.89469	.	0.696198	0.14433	N	0.319920	T	0.68174	0.2972	L	0.29908	0.895	0.34988	D	0.75471	B;B	0.33919	0.432;0.09	B;B	0.34301	0.179;0.013	T	0.71126	-0.4683	10	0.33141	T	0.24	.	19.8752	0.96867	0.0:0.0:1.0:0.0	.	110;19	Q6NUK7;P07948	.;LYN_HUMAN	F	19	ENSP00000428924:L19F;ENSP00000428424:L19F;ENSP00000428313:L19F	ENSP00000428924:L19F	L	+	3	2	LYN	57017029	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.477000	0.60223	2.699000	0.92147	0.591000	0.81541	TTG	LYN	-	NULL	ENSG00000254087		0.368	LYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LYN	HGNC	protein_coding	OTTHUMT00000378155.1	62	0.00	0	G	NM_002350		56854475	56854475	+1	no_errors	ENST00000519728	ensembl	human	known	69_37n	missense	49	16.95	10	SNP	1.000	C
LYSMD4	145748	genome.wustl.edu	37	15	100269517	100269517	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:100269517G>C	ENST00000409796.1	-	3	764	c.702C>G	c.(700-702)gtC>gtG	p.V234V	LYSMD4_ENST00000545021.1_Silent_p.V108V|LYSMD4_ENST00000604213.1_Intron|LYSMD4_ENST00000332728.4_Silent_p.V234V|LYSMD4_ENST00000344791.2_Silent_p.V235V	NM_001284417.1|NM_001284418.1|NM_001284420.1	NP_001271346.1|NP_001271347.1|NP_001271349.1	Q5XG99	LYSM4_HUMAN	LysM, putative peptidoglycan-binding, domain containing 4	234						integral component of membrane (GO:0016021)				breast(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)	10	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00162)|LUSC - Lung squamous cell carcinoma(107;0.17)|Lung(145;0.208)			CCAAATAAAAGACAGGCAAGA	0.468																																						dbGAP											0													154.0	148.0	150.0					15																	100269517		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC041097	CCDS10381.1, CCDS66876.1, CCDS66877.1, CCDS73788.1	15q26.3	2005-10-24			ENSG00000183060	ENSG00000183060			26571	protein-coding gene	gene with protein product						12477932	Standard	NM_001284418		Approved	FLJ33008	uc002bvl.3	Q5XG99	OTTHUMG00000149853	ENST00000409796.1:c.702C>G	15.37:g.100269517G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NII6|A8K2N1|Q96LY7	Silent	SNP	NULL	p.V235	ENST00000409796.1	37	c.705		15																																																																																			LYSMD4	-	NULL	ENSG00000183060		0.468	LYSMD4-005	KNOWN	basic|appris_principal	protein_coding	LYSMD4	HGNC	protein_coding	OTTHUMT00000335634.1	56	0.00	0	G	NM_152449		100269517	100269517	-1	no_errors	ENST00000344791	ensembl	human	known	69_37n	silent	41	26.79	15	SNP	0.960	C
LYST	1130	genome.wustl.edu	37	1	235884046	235884046	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:235884046C>T	ENST00000389794.3	-	40	9649	c.9475G>A	c.(9475-9477)Gat>Aat	p.D3159N	LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.D3159N			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3159	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.				blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGCATGAGATCATTGAAGGAT	0.368																																						dbGAP											0													184.0	164.0	171.0					1																	235884046		2203	4300	6503	-	-	-	SO:0001583	missense	0			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.9475G>A	1.37:g.235884046C>T	ENSP00000374444:p.Asp3159Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D3159N	ENST00000389794.3	37	c.9475	CCDS31062.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.690271	0.96793	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.70869	-0.52;-0.52	5.65	5.65	0.86999	BEACH domain (4);	0.000000	0.85682	D	0.000000	D	0.86678	0.5990	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88064	0.2796	10	0.87932	D	0	.	19.7347	0.96198	0.0:1.0:0.0:0.0	.	3159	Q99698	LYST_HUMAN	N	3159	ENSP00000374444:D3159N;ENSP00000374443:D3159N	ENSP00000374443:D3159N	D	-	1	0	LYST	233950669	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.772000	0.85439	2.672000	0.90937	0.655000	0.94253	GAT	LYST	-	pfam_BEACH_dom,superfamily_BEACH_dom,superfamily_ARM-type_fold,pfscan_BEACH_dom	ENSG00000143669		0.368	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYST	HGNC	protein_coding	OTTHUMT00000097533.5	83	0.00	0	C			235884046	235884046	-1	no_errors	ENST00000389793	ensembl	human	known	69_37n	missense	76	15.38	14	SNP	1.000	T
LYST	1130	genome.wustl.edu	37	1	235969126	235969126	+	Missense_Mutation	SNP	G	G	C	rs80338652		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:235969126G>C	ENST00000389794.3	-	6	3484	c.3310C>G	c.(3310-3312)Cga>Gga	p.R1104G	LYST_ENST00000389793.2_Missense_Mutation_p.R1104G|LYST_ENST00000536965.1_Missense_Mutation_p.R1104G			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1104					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TCCAAAAGTCGTATACTTTGA	0.423																																						dbGAP											0			GRCh37	CM960301	LYST	M	rs80338652						77.0	75.0	75.0					1																	235969126		2203	4300	6503	-	-	-	SO:0001583	missense	0			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.3310C>G	1.37:g.235969126G>C	ENSP00000374444:p.Arg1104Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R1104G	ENST00000389794.3	37	c.3310	CCDS31062.1	1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.396176	0.62177	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.66815	-0.23;-0.23;0.86	5.55	-0.566	0.11767	.	0.000000	0.85682	D	0.000000	T	0.77585	0.4152	M	0.64997	1.995	0.53688	D	0.999976	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.80223	-0.1471	10	0.62326	D	0.03	.	16.3278	0.82994	0.0:0.0:0.4254:0.5746	.	1104;1104	Q99698-3;Q99698	.;LYST_HUMAN	G	1104	ENSP00000374444:R1104G;ENSP00000374443:R1104G;ENSP00000438315:R1104G	ENSP00000374443:R1104G	R	-	1	2	LYST	234035749	1.000000	0.71417	0.997000	0.53966	0.950000	0.60333	1.636000	0.37144	0.226000	0.20979	0.563000	0.77884	CGA	LYST	-	superfamily_ARM-type_fold	ENSG00000143669		0.423	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYST	HGNC	protein_coding	OTTHUMT00000097533.5	62	0.00	0	G			235969126	235969126	-1	no_errors	ENST00000389793	ensembl	human	known	69_37n	missense	75	17.58	16	SNP	0.922	C
LYZL4	131375	genome.wustl.edu	37	3	42448401	42448401	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:42448401G>C	ENST00000287748.3	-	3	504	c.229C>G	c.(229-231)Cag>Gag	p.Q77E	LYZL4_ENST00000470991.1_5'UTR|LYZL4_ENST00000441172.1_Missense_Mutation_p.Q77E	NM_144634.2	NP_653235.1	Q96KX0	LYZL4_HUMAN	lysozyme-like 4	77					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)|nucleus (GO:0005634)	lysozyme activity (GO:0003796)			central_nervous_system(1)|endometrium(1)|lung(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.222)		CCACGCATCTGAAAGAGGCCA	0.567																																						dbGAP											0													98.0	83.0	88.0					3																	42448401		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC016747, AF326749	CCDS2697.1	3p21.33	2006-04-12			ENSG00000157093	ENSG00000157093			28387	protein-coding gene	gene with protein product		612750				12477932	Standard	NM_144634		Approved	MGC26768, LYC4	uc003cle.3	Q96KX0	OTTHUMG00000131793	ENST00000287748.3:c.229C>G	3.37:g.42448401G>C	ENSP00000287748:p.Gln77Glu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22,prints_Glyco_hydro_22_lys	p.Q77E	ENST00000287748.3	37	c.229	CCDS2697.1	3	.	.	.	.	.	.	.	.	.	.	G	14.90	2.674861	0.47781	.	.	ENSG00000157093	ENST00000287748;ENST00000441172	T;T	0.78246	-1.16;-1.16	4.31	4.31	0.51392	Lysozyme-like domain (1);	0.000000	0.64402	D	0.000002	D	0.90755	0.7098	H	0.95780	3.72	0.37738	D	0.92553	D	0.76494	0.999	D	0.87578	0.998	D	0.94024	0.7295	10	0.87932	D	0	-19.1719	12.6535	0.56774	0.0:0.0:1.0:0.0	.	77	Q96KX0	LYZL4_HUMAN	E	77	ENSP00000287748:Q77E;ENSP00000387897:Q77E	ENSP00000287748:Q77E	Q	-	1	0	LYZL4	42423405	1.000000	0.71417	1.000000	0.80357	0.289000	0.27227	4.387000	0.59626	2.105000	0.64084	0.563000	0.77884	CAG	LYZL4	-	pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22	ENSG00000157093		0.567	LYZL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYZL4	HGNC	protein_coding	OTTHUMT00000254729.2	30	0.00	0	G	NM_144634		42448401	42448401	-1	no_errors	ENST00000287748	ensembl	human	known	69_37n	missense	26	36.59	15	SNP	1.000	C
LZTR1	8216	genome.wustl.edu	37	22	21349235	21349235	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:21349235C>T	ENST00000215739.8	+	16	2221	c.1862C>T	c.(1861-1863)tCc>tTc	p.S621F	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.S602F	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	621					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	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)			GAGCGCCTCTCCTCTCCACTG	0.607																																						dbGAP											0													87.0	80.0	82.0					22																	21349235		2203	4300	6503	-	-	-	SO:0001583	missense	0			D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"""BTB/POZ domain containing"""	6742	protein-coding gene	gene with protein product		600574	"""leucine-zipper-like transcriptional regulator 1"""			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.1862C>T	22.37:g.21349235C>T	ENSP00000215739:p.Ser621Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14776|Q20WK0	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_Kelch_1,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.S621F	ENST00000215739.8	37	c.1862	CCDS33606.1	22	.	.	.	.	.	.	.	.	.	.	c	16.58	3.162504	0.57368	.	.	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	T;T	0.60548	0.6;0.18	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.71719	0.3373	L	0.50333	1.59	0.80722	D	1	D;D;D	0.76494	0.996;0.996;0.999	P;P;D	0.83275	0.862;0.804;0.996	T	0.73786	-0.3873	10	0.72032	D	0.01	-16.5401	16.6241	0.84937	0.0:1.0:0.0:0.0	.	602;621;580	B7Z3T9;Q8N653;F5GXU8	.;LZTR1_HUMAN;.	F	580;621;602	ENSP00000215739:S621F;ENSP00000374006:S602F	ENSP00000215739:S621F	S	+	2	0	LZTR1	19679235	1.000000	0.71417	0.950000	0.38849	0.751000	0.42716	4.909000	0.63314	2.513000	0.84729	0.556000	0.70494	TCC	LZTR1	-	NULL	ENSG00000099949		0.607	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LZTR1	HGNC	protein_coding	OTTHUMT00000320387.1	30	0.00	0	C	NM_006767		21349235	21349235	+1	no_errors	ENST00000215739	ensembl	human	known	69_37n	missense	22	31.25	10	SNP	0.998	T
MACC1	346389	genome.wustl.edu	37	7	20199081	20199081	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:20199081G>A	ENST00000400331.5	-	5	1211	c.903C>T	c.(901-903)ttC>ttT	p.F301F	MACC1_ENST00000332878.4_Silent_p.F301F|MACC1_ENST00000589011.1_Silent_p.F301F	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	301					positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.F301L(1)		endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						TGACTTGGCTGAAAGGATCCT	0.418																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											60.0	58.0	58.0					7																	20199081		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS5369.1	7p15.3	2008-10-14			ENSG00000183742	ENSG00000183742			30215	protein-coding gene	gene with protein product		612646					Standard	NM_182762		Approved	7A5, SH3BP4L	uc003sus.4	Q6ZN28	OTTHUMG00000128415	ENST00000400331.5:c.903C>T	7.37:g.20199081G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Silent	SNP	pfam_SH3_2,superfamily_DEATH-like	p.F301	ENST00000400331.5	37	c.903	CCDS5369.1	7																																																																																			MACC1	-	NULL	ENSG00000183742		0.418	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MACC1	HGNC	protein_coding	OTTHUMT00000250202.5	46	0.00	0	G	NM_182762		20199081	20199081	-1	no_errors	ENST00000332878	ensembl	human	known	69_37n	silent	44	31.25	20	SNP	0.964	A
MACROD1	28992	genome.wustl.edu	37	11	63767714	63767714	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:63767714G>C	ENST00000255681.6	-	5	715	c.649C>G	c.(649-651)Cgg>Ggg	p.R217G	OTUB1_ENST00000535715.1_Intron	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1	217	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|large_intestine(3)|lung(6)|skin(1)	11						GCCGGGAGCCGATAGCCGCCG	0.701																																						dbGAP											0													21.0	24.0	23.0					11																	63767714		2192	4290	6482	-	-	-	SO:0001583	missense	0			AF202922	CCDS8056.1	11q13.1	2007-07-24	2007-06-11		ENSG00000133315	ENSG00000133315			29598	protein-coding gene	gene with protein product		610400				15691879	Standard	NM_014067		Approved	LRP16	uc001nyh.3	Q9BQ69	OTTHUMG00000167843	ENST00000255681.6:c.649C>G	11.37:g.63767714G>C	ENSP00000255681:p.Arg217Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UH96	Missense_Mutation	SNP	pfam_A1pp,smart_A1pp,pfscan_A1pp	p.R217G	ENST00000255681.6	37	c.649	CCDS8056.1	11	.	.	.	.	.	.	.	.	.	.	G	9.087	1.000831	0.19121	.	.	ENSG00000133315	ENST00000255681	T	0.22134	1.97	3.85	1.87	0.25490	Appr-1-p processing (3);	0.245904	0.25881	U	0.027684	T	0.13114	0.0318	L	0.28274	0.84	0.33250	D	0.558433	B	0.33299	0.407	B	0.31614	0.133	T	0.18429	-1.0337	10	0.36615	T	0.2	-4.7536	9.8936	0.41304	0.0:0.0:0.6299:0.3701	.	217	Q9BQ69	MACD1_HUMAN	G	217	ENSP00000255681:R217G	ENSP00000255681:R217G	R	-	1	2	MACROD1	63524290	0.284000	0.24287	0.979000	0.43373	0.641000	0.38312	2.286000	0.43496	0.367000	0.24454	-0.310000	0.09108	CGG	MACROD1	-	pfam_A1pp,smart_A1pp,pfscan_A1pp	ENSG00000133315		0.701	MACROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MACROD1	HGNC	protein_coding	OTTHUMT00000396570.1	24	0.00	0	G	NM_014067		63767714	63767714	-1	no_errors	ENST00000255681	ensembl	human	known	69_37n	missense	14	26.32	5	SNP	1.000	C
MACROD2	140733	genome.wustl.edu	37	20	16030489	16030489	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:16030489G>T	ENST00000310348.4	+	18	1315	c.1315G>T	c.(1315-1317)Gaa>Taa	p.E439*	MACROD2_ENST00000217246.4_Nonsense_Mutation_p.E416*|MACROD2_ENST00000378058.3_Nonsense_Mutation_p.E204*|MACROD2_ENST00000407045.3_Nonsense_Mutation_p.E89*|MACROD2_ENST00000402914.1_Nonsense_Mutation_p.E204*			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	439					brain development (GO:0007420)|cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				GGCACAAGATGAAGCGAAGGA	0.453																																						dbGAP											0													79.0	73.0	75.0					20																	16030489		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264			16126	protein-coding gene	gene with protein product		611567	"""chromosome 20 open reading frame 133"""	C20orf133			Standard	NM_080676		Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000310348.4:c.1315G>T	20.37:g.16030489G>T	ENSP00000309809:p.Glu439*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Nonsense_Mutation	SNP	pfam_A1pp,smart_A1pp,pfscan_A1pp	p.E439*	ENST00000310348.4	37	c.1315	CCDS13120.2	20	.	.	.	.	.	.	.	.	.	.	G	15.64	2.893846	0.52121	.	.	ENSG00000172264	ENST00000217246;ENST00000310348;ENST00000402914;ENST00000378058;ENST00000407045	.	.	.	5.71	4.73	0.59995	.	0.384744	0.19519	N	0.112325	.	.	.	.	.	.	0.36909	D	0.890804	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-0.0026	12.1995	0.54317	0.0:0.0:0.8311:0.1689	.	.	.	.	X	416;439;204;204;89	.	ENSP00000217246:E416X	E	+	1	0	MACROD2	15978489	1.000000	0.71417	1.000000	0.80357	0.739000	0.42172	2.128000	0.42045	2.711000	0.92665	0.563000	0.77884	GAA	MACROD2	-	NULL	ENSG00000172264		0.453	MACROD2-201	KNOWN	basic|CCDS	protein_coding	MACROD2	HGNC	protein_coding		66	0.00	0	G	NM_080676		16030489	16030489	+1	no_errors	ENST00000310348	ensembl	human	known	69_37n	nonsense	63	21.25	17	SNP	1.000	T
MAD2L1	4085	genome.wustl.edu	37	4	120986839	120986839	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:120986839C>T	ENST00000296509.6	-	2	547	c.208G>A	c.(208-210)Gaa>Aaa	p.E70K	RP11-679C8.2_ENST00000511064.1_RNA|RP11-679C8.2_ENST00000504106.1_RNA|RP11-679C8.2_ENST00000503073.1_RNA|RP11-679C8.2_ENST00000508362.1_RNA	NM_002358.3	NP_002349.1	Q13257	MD2L1_HUMAN	MAD2 mitotic arrest deficient-like 1 (yeast)	70	HORMA. {ECO:0000255|PROSITE- ProRule:PRU00109}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(2)|kidney(2)|large_intestine(2)|lung(3)	9						TTCAGTTGTTCCACCACATTA	0.368																																						dbGAP											0													72.0	69.0	70.0					4																	120986839		2203	4300	6503	-	-	-	SO:0001583	missense	0			U65410	CCDS3715.1	4q27	2013-01-17	2001-11-28		ENSG00000164109	ENSG00000164109			6763	protein-coding gene	gene with protein product		601467	"""MAD2 (mitotic arrest deficient, yeast, homolog)-like 1"""			8824189, 9345911	Standard	NM_002358		Approved	MAD2, HSMAD2	uc003idl.2	Q13257	OTTHUMG00000132967	ENST00000296509.6:c.208G>A	4.37:g.120986839C>T	ENSP00000296509:p.Glu70Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53F56|Q548X9|Q6IRW7|Q8IZX3	Missense_Mutation	SNP	pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd	p.E70K	ENST00000296509.6	37	c.208	CCDS3715.1	4	.	.	.	.	.	.	.	.	.	.	C	11.45	1.641156	0.29157	.	.	ENSG00000164109	ENST00000296509	.	.	.	4.62	4.62	0.57501	DNA-binding HORMA (4);	0.419343	0.28284	N	0.015915	T	0.41003	0.1140	N	0.17901	0.54	0.44789	D	0.997792	B;B	0.09022	0.001;0.002	B;B	0.12156	0.007;0.002	T	0.34204	-0.9838	9	0.06099	T	0.92	-9.8079	17.8422	0.88718	0.0:1.0:0.0:0.0	.	70;70	Q8IZX3;Q13257	.;MD2L1_HUMAN	K	70	.	ENSP00000296509:E70K	E	-	1	0	MAD2L1	121206287	1.000000	0.71417	0.986000	0.45419	0.987000	0.75469	3.596000	0.54024	2.264000	0.75181	0.655000	0.94253	GAA	MAD2L1	-	pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd	ENSG00000164109		0.368	MAD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAD2L1	HGNC	protein_coding	OTTHUMT00000256525.2	94	0.00	0	C			120986839	120986839	-1	no_errors	ENST00000296509	ensembl	human	known	69_37n	missense	41	26.79	15	SNP	1.000	T
MAD2L2	10459	genome.wustl.edu	37	1	11736007	11736007	+	Intron	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:11736007G>A	ENST00000235310.3	-	8	1356				MAD2L2_ENST00000376692.4_Intron|MAD2L2_ENST00000376667.3_Intron|MAD2L2_ENST00000376669.5_Intron|MAD2L2_ENST00000376672.1_Intron			Q9UI95	MD2L2_HUMAN	MAD2 mitotic arrest deficient-like 2 (yeast)						actin filament organization (GO:0007015)|DNA damage response, signal transduction resulting in transcription (GO:0042772)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|zeta DNA polymerase complex (GO:0016035)	JUN kinase binding (GO:0008432)|RNA polymerase II activating transcription factor binding (GO:0001102)			kidney(1)|large_intestine(1)|lung(2)|ovary(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGGAAGAGATGAGTCTCAGAA	0.527								DNA polymerases (catalytic subunits)																														dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF139365	CCDS134.1	1p36	2013-01-17	2001-11-28		ENSG00000116670	ENSG00000116670		"""DNA polymerases"""	6764	protein-coding gene	gene with protein product	"""mitotic arrest deficient homolog-like 2"", ""polymerase (DNA-directed), zeta 2, accessory subunit"""	604094	"""MAD2 (mitotic arrest deficient, yeast, homolog)-like 2"""			10366450	Standard	NM_006341		Approved	MAD2B, REV7, POLZ2	uc009vnc.3	Q9UI95	OTTHUMG00000002231	ENST00000235310.3:c.427+95C>T	1.37:g.11736007G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KNE3|Q5TGW7|Q9UNA7|Q9Y6I6	Missense_Mutation	SNP	pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd	p.H151Y	ENST00000235310.3	37	c.451	CCDS134.1	1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.411119	0.25465	.	.	ENSG00000116670	ENST00000376664	.	.	.	3.31	-4.5	0.03493	.	.	.	.	.	T	0.33789	0.0875	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.44742	-0.9308	5	0.66056	D	0.02	.	4.6391	0.12540	0.4538:0.3192:0.227:0.0	.	.	.	.	Y	151	.	ENSP00000365852:H151Y	H	-	1	0	MAD2L2	11658594	0.000000	0.05858	0.000000	0.03702	0.188000	0.23474	-0.817000	0.04472	-0.773000	0.04596	-0.379000	0.06801	CAT	MAD2L2	-	pfscan_HORMA_DNA-bd	ENSG00000116670		0.527	MAD2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAD2L2	HGNC	protein_coding	OTTHUMT00000006344.2	17	0.00	0	G	NM_006341		11736007	11736007	-1	no_errors	ENST00000376664	ensembl	human	known	69_37n	missense	12	33.33	6	SNP	0.000	A
MADD	8567	genome.wustl.edu	37	11	47296497	47296497	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:47296497C>G	ENST00000311027.5	+	3	611	c.446C>G	c.(445-447)tCt>tGt	p.S149C	MADD_ENST00000402799.1_Missense_Mutation_p.S149C|MADD_ENST00000406482.1_Missense_Mutation_p.S149C|MADD_ENST00000342922.4_Missense_Mutation_p.S149C|MADD_ENST00000407859.3_Missense_Mutation_p.S149C|MADD_ENST00000349238.3_Missense_Mutation_p.S149C|RP11-17G12.3_ENST00000545474.1_RNA|RP11-17G12.3_ENST00000543925.1_RNA|MADD_ENST00000395336.3_Missense_Mutation_p.S149C|MADD_ENST00000402192.2_Missense_Mutation_p.S149C|MADD_ENST00000395344.3_Missense_Mutation_p.S149C	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		AGTGCTGACTCTACCCCTGAT	0.632																																						dbGAP											0													61.0	60.0	61.0					11																	47296497		2201	4298	6499	-	-	-	SO:0001583	missense	0			AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.446C>G	11.37:g.47296497C>G	ENSP00000310933:p.Ser149Cys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.S149C	ENST00000311027.5	37	c.446	CCDS7930.1	11	.	.	.	.	.	.	.	.	.	.	C	24.0	4.478983	0.84747	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192	T;T;T;T;T;T;T;T;T	0.06849	3.35;3.25;3.25;3.35;3.35;3.25;3.25;3.35;3.35	6.07	6.07	0.98685	.	0.323928	0.33732	N	0.004603	T	0.15739	0.0379	L	0.27053	0.805	0.80722	D	1	D;D;P;P;D;P;P;D;P;P	0.61697	0.97;0.97;0.932;0.857;0.982;0.939;0.632;0.99;0.78;0.766	P;P;P;P;P;P;P;P;P;P	0.56700	0.524;0.524;0.804;0.478;0.609;0.609;0.525;0.716;0.541;0.641	T	0.01930	-1.1245	9	.	.	.	-6.9297	20.6593	0.99626	0.0:1.0:0.0:0.0	.	149;149;149;149;149;149;149;149;149;149	B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;MADD_HUMAN;.	C	149	ENSP00000343902:S149C;ENSP00000385585:S149C;ENSP00000384435:S149C;ENSP00000304505:S149C;ENSP00000310933:S149C;ENSP00000384204:S149C;ENSP00000378753:S149C;ENSP00000378745:S149C;ENSP00000384287:S149C	.	S	+	2	0	MADD	47253073	0.997000	0.39634	0.985000	0.45067	0.579000	0.36224	3.765000	0.55272	2.885000	0.99019	0.655000	0.94253	TCT	MADD	-	NULL	ENSG00000110514		0.632	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MADD	HGNC	protein_coding	OTTHUMT00000317746.1	36	0.00	0	C			47296497	47296497	+1	no_errors	ENST00000311027	ensembl	human	known	69_37n	missense	63	18.18	14	SNP	1.000	G
MADD	8567	genome.wustl.edu	37	11	47297700	47297700	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:47297700C>G	ENST00000311027.5	+	4	1075	c.910C>G	c.(910-912)Cta>Gta	p.L304V	MADD_ENST00000402799.1_Missense_Mutation_p.L304V|MADD_ENST00000406482.1_Missense_Mutation_p.L304V|MADD_ENST00000342922.4_Missense_Mutation_p.L304V|MADD_ENST00000407859.3_Missense_Mutation_p.L304V|MADD_ENST00000349238.3_Missense_Mutation_p.L304V|MADD_ENST00000489415.1_3'UTR|MADD_ENST00000395336.3_Missense_Mutation_p.L304V|MADD_ENST00000402192.2_Missense_Mutation_p.L304V|MADD_ENST00000395344.3_Missense_Mutation_p.L304V	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CTTGGAACTTCTAGGTGTGGA	0.522																																						dbGAP											0													98.0	79.0	85.0					11																	47297700		2201	4298	6499	-	-	-	SO:0001583	missense	0			AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.910C>G	11.37:g.47297700C>G	ENSP00000310933:p.Leu304Val	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.L304V	ENST00000311027.5	37	c.910	CCDS7930.1	11	.	.	.	.	.	.	.	.	.	.	C	20.4	3.986511	0.74589	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000428807;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192	T;T;T;T;T;T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93;1.93;1.93;1.93;1.93;1.93	5.75	4.84	0.62591	DENN (3);	0.000000	0.64402	D	0.000001	T	0.50735	0.1633	M	0.80616	2.505	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	0.999;0.987;0.999;0.999;0.999;0.992;0.999;0.999;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.91635	0.999;0.977;0.999;0.996;0.996;0.96;0.996;0.995;0.996;0.999	T	0.53479	-0.8433	10	0.87932	D	0	-11.7116	10.9859	0.47523	0.0:0.8335:0.0:0.1665	.	304;304;304;304;304;304;304;304;304;304	B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;MADD_HUMAN;.	V	304;304;82;304;304;304;304;304;304;304;304	ENSP00000343902:L304V;ENSP00000398167:L82V;ENSP00000385585:L304V;ENSP00000384435:L304V;ENSP00000304505:L304V;ENSP00000310933:L304V;ENSP00000384204:L304V;ENSP00000378753:L304V;ENSP00000378745:L304V;ENSP00000384287:L304V	ENSP00000310933:L304V	L	+	1	2	MADD	47254276	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.935000	0.40173	2.716000	0.92895	0.655000	0.94253	CTA	MADD	-	pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom	ENSG00000110514		0.522	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MADD	HGNC	protein_coding	OTTHUMT00000317746.1	60	0.00	0	C			47297700	47297700	+1	no_errors	ENST00000311027	ensembl	human	known	69_37n	missense	81	10.00	9	SNP	1.000	G
MAGEB10	139422	genome.wustl.edu	37	X	27840228	27840228	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:27840228C>T	ENST00000356790.2	+	3	1050	c.805C>T	c.(805-807)Cca>Tca	p.P269S		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	269	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						CAGTGATCCTCCACGCTATCA	0.468																																						dbGAP											0													66.0	63.0	64.0					X																	27840228		2202	4300	6502	-	-	-	SO:0001583	missense	0				CCDS35221.1	Xp21.3	2008-02-05			ENSG00000177689	ENSG00000177689			25377	protein-coding gene	gene with protein product		300761				11454705	Standard	NM_182506		Approved	FLJ32965	uc004dbw.3	Q96LZ2	OTTHUMG00000046084	ENST00000356790.2:c.805C>T	X.37:g.27840228C>T	ENSP00000368304:p.Pro269Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q494Y6|Q494Y7|Q9BZ78	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.P269S	ENST00000356790.2	37	c.805	CCDS35221.1	X	.	.	.	.	.	.	.	.	.	.	C	10.51	1.371047	0.24771	.	.	ENSG00000177689	ENST00000356790	T	0.04862	3.54	2.62	2.62	0.31277	.	0.747332	0.11698	U	0.538249	T	0.22399	0.0540	M	0.88105	2.93	0.09310	N	1	D	0.55605	0.972	P	0.57620	0.824	T	0.04495	-1.0947	10	0.72032	D	0.01	.	7.8584	0.29495	0.0:1.0:0.0:0.0	.	269	Q96LZ2	MAGBA_HUMAN	S	269	ENSP00000368304:P269S	ENSP00000368304:P269S	P	+	1	0	MAGEB10	27750149	0.044000	0.20184	0.158000	0.22627	0.260000	0.26232	0.616000	0.24344	1.561000	0.49584	0.422000	0.28245	CCA	MAGEB10	-	pfam_MAGE,pfscan_MAGE	ENSG00000177689		0.468	MAGEB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB10	HGNC	protein_coding	OTTHUMT00000106216.1	107	0.00	0	C	NM_182506		27840228	27840228	+1	no_errors	ENST00000356790	ensembl	human	known	69_37n	missense	79	37.80	48	SNP	0.141	T
MAGED1	9500	genome.wustl.edu	37	X	51644659	51644659	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:51644659G>C	ENST00000375722.1	+	12	2222	c.1970G>C	c.(1969-1971)aGa>aCa	p.R657T	MAGED1_ENST00000375772.3_Missense_Mutation_p.R657T|MAGED1_ENST00000375695.2_Missense_Mutation_p.R713T|MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000326587.7_Missense_Mutation_p.R657T			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	657	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					GTTCAGAAAAGAGACCCTCGT	0.488										Multiple Myeloma(10;0.10)																												dbGAP											0													23.0	21.0	22.0					X																	51644659		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.1970G>C	X.37:g.51644659G>C	ENSP00000364874:p.Arg657Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.R713T	ENST00000375722.1	37	c.2138	CCDS14337.1	X	.	.	.	.	.	.	.	.	.	.	G	10.09	1.254896	0.22965	.	.	ENSG00000179222	ENST00000375772;ENST00000375722;ENST00000326587;ENST00000375695	T;T;T;T	0.03152	4.05;4.05;4.05;4.03	4.21	3.35	0.38373	.	0.136187	0.34386	N	0.004002	T	0.01800	0.0057	N	0.05280	-0.08	0.33696	D	0.613977	P;B	0.37330	0.59;0.18	B;B	0.35770	0.21;0.057	T	0.52335	-0.8589	10	0.20046	T	0.44	.	6.8455	0.23987	0.1263:0.0:0.8737:0.0	.	713;657	Q9Y5V3-2;Q9Y5V3	.;MAGD1_HUMAN	T	657;657;657;713	ENSP00000364927:R657T;ENSP00000364874:R657T;ENSP00000325333:R657T;ENSP00000364847:R713T	ENSP00000325333:R657T	R	+	2	0	MAGED1	51661399	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	2.273000	0.43381	1.126000	0.42016	0.513000	0.50165	AGA	MAGED1	-	pfscan_MAGE	ENSG00000179222		0.488	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MAGED1	HGNC	protein_coding	OTTHUMT00000056593.1	37	0.00	0	G	NM_001005332		51644659	51644659	+1	no_errors	ENST00000375695	ensembl	human	known	69_37n	missense	45	19.64	11	SNP	0.999	C
MAGED2	10916	genome.wustl.edu	37	X	54837515	54837515	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:54837515G>C	ENST00000375068.1	+	4	1032	c.799G>C	c.(799-801)Gag>Cag	p.E267Q	MAGED2_ENST00000347546.4_Missense_Mutation_p.E249Q|MAGED2_ENST00000375060.1_Missense_Mutation_p.E182Q|MAGED2_ENST00000396224.1_Missense_Mutation_p.E267Q|MAGED2_ENST00000375058.1_Missense_Mutation_p.E267Q|MAGED2_ENST00000375062.4_Missense_Mutation_p.E182Q|MAGED2_ENST00000218439.4_Missense_Mutation_p.E267Q|MAGED2_ENST00000375053.2_Missense_Mutation_p.E267Q|MAGED2_ENST00000497484.1_3'UTR			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	267						membrane (GO:0016020)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						GTCATCCCAAGAGCCTGAAGC	0.567																																						dbGAP											0													30.0	29.0	29.0					X																	54837515		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF128527	CCDS14362.1	Xp11.2	2008-08-01			ENSG00000102316	ENSG00000102316			16353	protein-coding gene	gene with protein product	"""hepatocellular carcinoma associated protein"", ""breast cancer associated gene 1"", ""melanoma-associated antigen D2"", ""hepatocellular carcinoma-associated protein HCA10"""	300470					Standard	NM_014599		Approved	JCL-1, BCG1, 11B6, MAGE-D2, HCA10, MAGED, MGC8386	uc004dtk.1	Q9UNF1	OTTHUMG00000021638	ENST00000375068.1:c.799G>C	X.37:g.54837515G>C	ENSP00000364209:p.Glu267Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMX0|O76058|Q5BJF3|Q8NAL6|Q9H218|Q9P0U9|Q9UM52	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.E267Q	ENST00000375068.1	37	c.799	CCDS14362.1	X	.	.	.	.	.	.	.	.	.	.	G	13.17	2.155986	0.38021	.	.	ENSG00000102316	ENST00000375068;ENST00000375053;ENST00000347546;ENST00000343474;ENST00000375062;ENST00000218439;ENST00000375058;ENST00000375060;ENST00000396224	T;T;T;T;T;T;T;T;T	0.70986	4.04;4.04;4.11;-0.53;4.02;4.04;4.04;4.02;4.04	3.88	2.1	0.27182	.	0.639184	0.13823	N	0.360223	T	0.62744	0.2453	N	0.08118	0	0.20703	N	0.999865	D;D;D	0.76494	0.999;0.988;0.997	D;P;P	0.66979	0.948;0.718;0.889	T	0.52711	-0.8539	10	0.22109	T	0.4	.	7.4207	0.27071	0.2232:0.0:0.7768:0.0	.	249;182;267	Q9UNF1-2;Q5H907;Q9UNF1	.;.;MAGD2_HUMAN	Q	267;267;211;249;182;267;267;182;267	ENSP00000364209:E267Q;ENSP00000364193:E267Q;ENSP00000336962:E211Q;ENSP00000340290:E249Q;ENSP00000364202:E182Q;ENSP00000218439:E267Q;ENSP00000364198:E267Q;ENSP00000364200:E182Q;ENSP00000379526:E267Q	ENSP00000218439:E267Q	E	+	1	0	MAGED2	54854240	1.000000	0.71417	0.150000	0.22450	0.996000	0.88848	1.770000	0.38532	0.443000	0.26582	0.594000	0.82650	GAG	MAGED2	-	NULL	ENSG00000102316		0.567	MAGED2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGED2	HGNC	protein_coding	OTTHUMT00000056821.2	65	0.00	0	G	NM_014599		54837515	54837515	+1	no_errors	ENST00000218439	ensembl	human	known	69_37n	missense	52	23.53	16	SNP	0.579	C
MAGEE2	139599	genome.wustl.edu	37	X	75003459	75003459	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:75003459G>C	ENST00000373359.2	-	1	1620	c.1428C>G	c.(1426-1428)atC>atG	p.I476M		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	476	MAGE 2. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.I476M(1)|p.I476I(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTTTCATTTTGATGGTTTCAT	0.493																																						dbGAP											2	Substitution - Missense(1)|Substitution - coding silent(1)	cervix(1)|lung(1)											95.0	79.0	84.0					X																	75003459		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF490509	CCDS14431.1	Xq13	2008-02-05			ENSG00000186675	ENSG00000186675			24935	protein-coding gene	gene with protein product		300760				11454705	Standard	NM_138703		Approved	HCA3	uc004ecj.2	Q8TD90	OTTHUMG00000021870	ENST00000373359.2:c.1428C>G	X.37:g.75003459G>C	ENSP00000362457:p.Ile476Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JSI5	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.I476M	ENST00000373359.2	37	c.1428	CCDS14431.1	X	.	.	.	.	.	.	.	.	.	.	G	8.367	0.834350	0.16820	.	.	ENSG00000186675	ENST00000373359	T	0.04758	3.56	2.73	1.86	0.25419	.	.	.	.	.	T	0.03695	0.0105	N	0.24115	0.695	0.09310	N	0.999991	B	0.13594	0.008	B	0.10450	0.005	T	0.40440	-0.9563	9	0.87932	D	0	.	4.9836	0.14178	0.1739:0.0:0.8261:0.0	.	476	Q8TD90	MAGE2_HUMAN	M	476	ENSP00000362457:I476M	ENSP00000362457:I476M	I	-	3	3	MAGEE2	74920184	1.000000	0.71417	0.999000	0.59377	0.890000	0.51754	1.349000	0.33998	0.575000	0.29434	0.417000	0.27973	ATC	MAGEE2	-	pfam_MAGE,pfscan_MAGE	ENSG00000186675		0.493	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEE2	HGNC	protein_coding	OTTHUMT00000057288.1	80	0.00	0	G	NM_138703		75003459	75003459	-1	no_errors	ENST00000373359	ensembl	human	known	69_37n	missense	76	19.15	18	SNP	0.998	C
MAGEC1	9947	genome.wustl.edu	37	X	140994641	140994641	+	Missense_Mutation	SNP	C	C	T	rs372076984		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:140994641C>T	ENST00000285879.4	+	4	1737	c.1451C>T	c.(1450-1452)tCc>tTc	p.S484F	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	484										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGTGAGCTCCTCCTCCTCC	0.473										HNSCC(15;0.026)																												dbGAP											0													117.0	129.0	125.0					X																	140994641		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1451C>T	X.37:g.140994641C>T	ENSP00000285879:p.Ser484Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.S484F	ENST00000285879.4	37	c.1451	CCDS35417.1	X	.	.	.	.	.	.	.	.	.	.	c	0.160	-1.082220	0.01888	.	.	ENSG00000155495	ENST00000285879	T	0.02974	4.09	.	.	.	.	.	.	.	.	T	0.01421	0.0046	N	0.08118	0	0.09310	N	0.999999	B	0.31077	0.307	B	0.09377	0.004	T	0.47045	-0.9147	7	0.87932	D	0	.	.	.	.	.	484	O60732	MAGC1_HUMAN	F	484	ENSP00000285879:S484F	ENSP00000285879:S484F	S	+	2	0	MAGEC1	140822307	0.002000	0.14202	0.129000	0.21949	0.130000	0.20726	0.000000	0.12993	0.000000	0.14550	0.000000	0.15137	TCC	MAGEC1	-	NULL	ENSG00000155495		0.473	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC1	HGNC	protein_coding	OTTHUMT00000058604.1	182	0.00	0	C	NM_005462		140994641	140994641	+1	no_errors	ENST00000285879	ensembl	human	known	69_37n	missense	112	22.76	33	SNP	0.231	T
MAGEC1	9947	genome.wustl.edu	37	X	140994850	140994850	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:140994850C>T	ENST00000285879.4	+	4	1946	c.1660C>T	c.(1660-1662)Cag>Tag	p.Q554*	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	554								p.Q554K(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GAGCCCTCCTCAGGGGGAGGA	0.567										HNSCC(15;0.026)																												dbGAP											1	Substitution - Missense(1)	lung(1)											202.0	216.0	211.0					X																	140994850		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1660C>T	X.37:g.140994850C>T	ENSP00000285879:p.Gln554*	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PK03|O75451|Q8TCV4	Nonsense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.Q554*	ENST00000285879.4	37	c.1660	CCDS35417.1	X	.	.	.	.	.	.	.	.	.	.	c	23.3	4.401137	0.83120	.	.	ENSG00000155495	ENST00000285879	.	.	.	0.951	-1.9	0.07665	.	.	.	.	.	.	.	.	.	.	.	0.22880	N	0.998612	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	2.4166	0.04437	0.0:0.2522:0.2894:0.4585	.	.	.	.	X	554	.	ENSP00000285879:Q554X	Q	+	1	0	MAGEC1	140822516	0.001000	0.12720	0.004000	0.12327	0.004000	0.04260	-1.054000	0.03496	-1.156000	0.02818	-1.148000	0.01847	CAG	MAGEC1	-	NULL	ENSG00000155495		0.567	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC1	HGNC	protein_coding	OTTHUMT00000058604.1	83	0.00	0	C	NM_005462		140994850	140994850	+1	no_errors	ENST00000285879	ensembl	human	known	69_37n	nonsense	62	17.33	13	SNP	0.457	T
MAGEC2	51438	genome.wustl.edu	37	X	141290720	141290720	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:141290720C>T	ENST00000247452.3	-	3	1401	c.1054G>A	c.(1054-1056)Gat>Aat	p.D352N		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	352	Interaction with TRIM28.				cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					GTGGCATCATCTGCGGTATCA	0.473										HNSCC(46;0.14)																												dbGAP											0													162.0	136.0	145.0					X																	141290720		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"""cancer/testis antigen 10"""	300468	"""melanoma antigen, family E, 1, cancer/testis specific"""	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.1054G>A	X.37:g.141290720C>T	ENSP00000354660:p.Asp352Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.D352N	ENST00000247452.3	37	c.1054	CCDS14678.1	X	.	.	.	.	.	.	.	.	.	.	-	5.796	0.331125	0.10956	.	.	ENSG00000046774	ENST00000247452	T	0.02197	4.4	1.04	-2.08	0.07254	.	.	.	.	.	T	0.02888	0.0086	M	0.70275	2.135	0.09310	N	1	B	0.33345	0.409	B	0.33690	0.168	T	0.33599	-0.9862	9	0.38643	T	0.18	.	2.6918	0.05123	0.3099:0.3813:0.3089:0.0	.	352	Q9UBF1	MAGC2_HUMAN	N	352	ENSP00000354660:D352N	ENSP00000354660:D352N	D	-	1	0	MAGEC2	141118386	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.319000	0.08039	-0.876000	0.04017	0.284000	0.19432	GAT	MAGEC2	-	NULL	ENSG00000046774		0.473	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEC2	HGNC	protein_coding	OTTHUMT00000058611.1	72	0.00	0	C	NM_016249		141290720	141290720	-1	no_errors	ENST00000247452	ensembl	human	known	69_37n	missense	58	18.31	13	SNP	0.000	T
MAGEC2	51438	genome.wustl.edu	37	X	141291015	141291015	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:141291015C>T	ENST00000247452.3	-	3	1106	c.759G>A	c.(757-759)ctG>ctA	p.L253L		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	253	Interaction with TRIM28.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					CTACTGCATTCAGCACTTCCC	0.512										HNSCC(46;0.14)																												dbGAP											0													129.0	124.0	125.0					X																	141291015		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"""cancer/testis antigen 10"""	300468	"""melanoma antigen, family E, 1, cancer/testis specific"""	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.759G>A	X.37:g.141291015C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Silent	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.L253	ENST00000247452.3	37	c.759	CCDS14678.1	X																																																																																			MAGEC2	-	pfam_MAGE,pfscan_MAGE	ENSG00000046774		0.512	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEC2	HGNC	protein_coding	OTTHUMT00000058611.1	79	0.00	0	C	NM_016249		141291015	141291015	-1	no_errors	ENST00000247452	ensembl	human	known	69_37n	silent	71	21.98	20	SNP	0.092	T
MAGEA4	4103	genome.wustl.edu	37	X	151092146	151092146	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:151092146G>A	ENST00000360243.2	+	3	277	c.10G>A	c.(10-12)Gag>Aag	p.E4K	MAGEA4_ENST00000370337.4_Missense_Mutation_p.E4K|MAGEA4_ENST00000276344.2_Missense_Mutation_p.E4K|MAGEA4_ENST00000370340.3_Missense_Mutation_p.E4K|MAGEA4_ENST00000393920.1_Missense_Mutation_p.E4K|MAGEA4_ENST00000370335.1_Missense_Mutation_p.E4K|MAGEA4_ENST00000393921.1_Missense_Mutation_p.E4K	NM_001011550.1	NP_001011550.1	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	4										breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CATGTCTTCTGAGCAGAAGAG	0.597																																						dbGAP											0													42.0	42.0	42.0					X																	151092146		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14702.1	Xq28	2009-03-13			ENSG00000147381	ENSG00000147381			6802	protein-coding gene	gene with protein product	"""melanoma-associated antigen 4"", ""cancer/testis antigen family 1, member 4"""	300175		MAGE4		8575766	Standard	XM_005274677		Approved	MAGE4A, MAGE4B, MAGE-41, MAGE-X2, MGC21336, CT1.4	uc004ffa.3	P43358	OTTHUMG00000024174	ENST00000360243.2:c.10G>A	X.37:g.151092146G>A	ENSP00000353379:p.Glu4Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14798	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.E4K	ENST00000360243.2	37	c.10	CCDS14702.1	X	.	.	.	.	.	.	.	.	.	.	G	8.038	0.763205	0.15914	.	.	ENSG00000147381	ENST00000431963;ENST00000276344;ENST00000448295;ENST00000393921;ENST00000430273;ENST00000370337;ENST00000441865;ENST00000393920;ENST00000370340;ENST00000416020;ENST00000425182;ENST00000457310;ENST00000370335;ENST00000360243;ENST00000431971	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.04406	3.63;3.63;3.63;3.63;3.63;3.63;3.63;3.63;3.63;3.63;3.63;3.63;3.63;3.63;3.63	2.4	-4.79	0.03200	Melanoma associated antigen, MAGE, N-terminal (1);	3.765150	0.00706	N	0.000800	T	0.17323	0.0416	M	0.84585	2.705	0.09310	N	1	D	0.65815	0.995	D	0.65573	0.936	T	0.49312	-0.8953	10	0.54805	T	0.06	.	0.3264	0.00311	0.241:0.2567:0.1527:0.3496	.	4	P43358	MAGA4_HUMAN	K	4	ENSP00000387777:E4K;ENSP00000276344:E4K;ENSP00000391904:E4K;ENSP00000377498:E4K;ENSP00000394149:E4K;ENSP00000359362:E4K;ENSP00000402624:E4K;ENSP00000377497:E4K;ENSP00000359365:E4K;ENSP00000394073:E4K;ENSP00000400900:E4K;ENSP00000402186:E4K;ENSP00000359360:E4K;ENSP00000353379:E4K;ENSP00000390096:E4K	ENSP00000276344:E4K	E	+	1	0	MAGEA4	150842802	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-5.852000	0.00094	-2.716000	0.00391	0.436000	0.28706	GAG	MAGEA4	-	pfam_Melanoma_ass_antigen_N	ENSG00000147381		0.597	MAGEA4-010	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEA4	HGNC	protein_coding	OTTHUMT00000060898.1	42	0.00	0	G	NM_002362		151092146	151092146	+1	no_errors	ENST00000276344	ensembl	human	known	69_37n	missense	24	29.41	10	SNP	0.000	A
MAGEA12	4111	genome.wustl.edu	37	X	151900219	151900219	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:151900219C>G	ENST00000357916.4	-	2	737	c.582G>C	c.(580-582)caG>caC	p.Q194H	MAGEA12_ENST00000393900.3_Missense_Mutation_p.Q194H|CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000393869.3_Missense_Mutation_p.Q194H	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	194	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TGGGCACGATCTGATTGTCGC	0.572																																						dbGAP											0													152.0	144.0	147.0					X																	151900219		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS76048.1	Xq28	2009-03-13			ENSG00000213401	ENSG00000213401			6799	protein-coding gene	gene with protein product	"""cancer/testis antigen family 1, member 12"""	300177		MAGE12		8575766	Standard	NM_001166386		Approved	CT1.12	uc004fgc.3	P43365	OTTHUMG00000022650	ENST00000357916.4:c.582G>C	X.37:g.151900219C>G	ENSP00000350592:p.Gln194His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NSD3	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.Q194H	ENST00000357916.4	37	c.582	CCDS14710.1	X	.	.	.	.	.	.	.	.	.	.	C	0.725	-0.782134	0.02907	.	.	ENSG00000213401	ENST00000357916;ENST00000393869;ENST00000393900	T;T;T	0.05081	3.5;3.5;3.5	0.809	-0.253	0.12996	.	1.544370	0.03761	N	0.258126	T	0.06280	0.0162	L	0.41124	1.26	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.40251	-0.9573	9	0.40728	T	0.16	.	.	.	.	.	194	P43365	MAGAC_HUMAN	H	194	ENSP00000350592:Q194H;ENSP00000377447:Q194H;ENSP00000377478:Q194H	ENSP00000350592:Q194H	Q	-	3	2	MAGEA12	151650875	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-1.235000	0.02928	-0.647000	0.05444	-1.111000	0.02071	CAG	MAGEA12	-	pfam_MAGE,pfscan_MAGE	ENSG00000213401		0.572	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEA12	HGNC	protein_coding	OTTHUMT00000058764.1	156	0.00	0	C	NM_005367		151900219	151900219	-1	no_errors	ENST00000357916	ensembl	human	known	69_37n	missense	130	23.98	41	SNP	0.002	G
MAGEF1	64110	genome.wustl.edu	37	3	184429378	184429378	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:184429378G>C	ENST00000317897.3	-	1	458	c.232C>G	c.(232-234)Cgg>Ggg	p.R78G		NM_022149.4	NP_071432.2	Q9HAY2	MAGF1_HUMAN	melanoma antigen family F, 1	78	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(143;4.61e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;5.64e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.56e-22)			GCCACCGTCCGATTCAGCCGG	0.622																																						dbGAP											0													73.0	82.0	79.0					3																	184429378		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF295378	CCDS3269.1	3q13	2008-02-05			ENSG00000177383	ENSG00000177383			29639	protein-coding gene	gene with protein product		609267				11313144	Standard	NM_022149		Approved		uc003fpa.3	Q9HAY2	OTTHUMG00000156712	ENST00000317897.3:c.232C>G	3.37:g.184429378G>C	ENSP00000315064:p.Arg78Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H215	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.R78G	ENST00000317897.3	37	c.232	CCDS3269.1	3	.	.	.	.	.	.	.	.	.	.	G	13.23	2.175170	0.38413	.	.	ENSG00000177383	ENST00000317897	T	0.04360	3.64	3.99	3.07	0.35406	.	0.790748	0.11568	N	0.551067	T	0.07369	0.0186	L	0.35288	1.05	0.09310	N	1	D	0.59767	0.986	P	0.51945	0.685	T	0.39502	-0.9611	10	0.29301	T	0.29	.	8.7619	0.34680	0.0:0.0:0.7743:0.2257	.	78	Q9HAY2	MAGF1_HUMAN	G	78	ENSP00000315064:R78G	ENSP00000315064:R78G	R	-	1	2	MAGEF1	185912072	0.005000	0.15991	0.040000	0.18447	0.543000	0.35085	0.742000	0.26216	0.968000	0.38212	0.655000	0.94253	CGG	MAGEF1	-	pfscan_MAGE	ENSG00000177383		0.622	MAGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEF1	HGNC	protein_coding	OTTHUMT00000345417.1	28	0.00	0	G	NM_022149		184429378	184429378	-1	no_errors	ENST00000317897	ensembl	human	known	69_37n	missense	25	21.21	7	SNP	0.042	C
MAGEL2	54551	genome.wustl.edu	37	15	23890429	23890429	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:23890429G>A	ENST00000532292.1	-	1	746	c.652C>T	c.(652-654)Ctg>Ttg	p.L218L		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	101					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		GGATCCTGCAGAGCATATGGC	0.562																																						dbGAP											0													62.0	66.0	65.0					15																	23890429		1996	4176	6172	-	-	-	SO:0001819	synonymous_variant	0			AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.652C>T	15.37:g.23890429G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_MAGE,pfscan_MAGE	p.L218	ENST00000532292.1	37	c.652		15																																																																																			MAGEL2	-	NULL	ENSG00000254585		0.562	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	MAGEL2	HGNC	protein_coding	OTTHUMT00000395182.2	37	0.00	0	G	NM_019066		23890429	23890429	-1	no_errors	ENST00000532292	ensembl	human	known	69_37n	silent	32	28.89	13	SNP	0.084	A
MAGI1	9223	genome.wustl.edu	37	3	65342189	65342189	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:65342189C>G	ENST00000402939.2	-	23	4252	c.4253G>C	c.(4252-4254)aGg>aCg	p.R1418T	MAGI1_ENST00000330909.8_3'UTR|RP11-88H12.2_ENST00000602316.1_RNA	NM_001033057.1	NP_001028229.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1447					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CTCTCTGTTCCTTTTGTCCAG	0.657																																						dbGAP											0													121.0	116.0	118.0					3																	65342189		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000402939.2:c.4253G>C	3.37:g.65342189C>G	ENSP00000385450:p.Arg1418Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin	p.R1418T	ENST00000402939.2	37	c.4253	CCDS33780.1	3	.	.	.	.	.	.	.	.	.	.	C	12.29	1.892657	0.33442	.	.	ENSG00000151276	ENST00000402939	T	0.12879	2.64	5.55	5.55	0.83447	.	0.139325	0.47455	D	0.000231	T	0.17662	0.0424	L	0.27053	0.805	0.80722	D	1	P	0.51933	0.949	P	0.49085	0.6	T	0.00958	-1.1500	10	0.37606	T	0.19	-4.8635	19.5097	0.95137	0.0:1.0:0.0:0.0	.	1418	Q96QZ7-2	.	T	1418	ENSP00000385450:R1418T	ENSP00000385450:R1418T	R	-	2	0	MAGI1	65317229	0.546000	0.26457	0.778000	0.31720	0.527000	0.34593	3.507000	0.53371	2.608000	0.88229	0.655000	0.94253	AGG	MAGI1	-	NULL	ENSG00000151276		0.657	MAGI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGI1	HGNC	protein_coding	OTTHUMT00000349126.1	145	0.00	0	C	NM_004742		65342189	65342189	-1	no_errors	ENST00000402939	ensembl	human	known	69_37n	missense	106	11.67	14	SNP	0.115	G
MAGI1	9223	genome.wustl.edu	37	3	65342317	65342317	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:65342317C>G	ENST00000402939.2	-	23	4124	c.4125G>C	c.(4123-4125)gaG>gaC	p.E1375D	MAGI1_ENST00000330909.8_3'UTR|RP11-88H12.2_ENST00000602316.1_RNA	NM_001033057.1	NP_001028229.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1404					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CCAGGAGTCTCTCCAGAGACC	0.721																																						dbGAP											0													28.0	33.0	31.0					3																	65342317		2203	4299	6502	-	-	-	SO:0001583	missense	0			AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000402939.2:c.4125G>C	3.37:g.65342317C>G	ENSP00000385450:p.Glu1375Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin	p.E1375D	ENST00000402939.2	37	c.4125	CCDS33780.1	3	.	.	.	.	.	.	.	.	.	.	C	4.246	0.044665	0.08196	.	.	ENSG00000151276	ENST00000402939	T	0.12255	2.7	5.31	-10.3	0.00346	.	0.316296	0.29515	N	0.011926	T	0.06416	0.0165	N	0.19112	0.55	0.51012	D	0.9999	B	0.11235	0.004	B	0.11329	0.006	T	0.34179	-0.9839	10	0.26408	T	0.33	-12.4806	14.8683	0.70434	0.0775:0.1957:0.0:0.7268	.	1375	Q96QZ7-2	.	D	1375	ENSP00000385450:E1375D	ENSP00000385450:E1375D	E	-	3	2	MAGI1	65317357	0.002000	0.14202	0.072000	0.20136	0.055000	0.15305	-1.934000	0.01552	-2.347000	0.00620	-0.743000	0.03520	GAG	MAGI1	-	NULL	ENSG00000151276		0.721	MAGI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGI1	HGNC	protein_coding	OTTHUMT00000349126.1	55	0.00	0	C	NM_004742		65342317	65342317	-1	no_errors	ENST00000402939	ensembl	human	known	69_37n	missense	30	34.78	16	SNP	0.092	G
MAGI2	9863	genome.wustl.edu	37	7	77708290	77708290	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:77708290C>G	ENST00000354212.4	-	21	3933	c.3680G>C	c.(3679-3681)aGa>aCa	p.R1227T	MAGI2_ENST00000419488.1_Missense_Mutation_p.R1213T|MAGI2_ENST00000522391.1_Missense_Mutation_p.R1227T	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	1227	PDZ 6. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TCCCGTGCCTCTCTTGAGCAG	0.428																																						dbGAP											0													233.0	196.0	209.0					7																	77708290		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.3680G>C	7.37:g.77708290C>G	ENSP00000346151:p.Arg1227Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin	p.R1227T	ENST00000354212.4	37	c.3680	CCDS5594.1	7	.	.	.	.	.	.	.	.	.	.	C	27.7	4.851623	0.91355	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.26518	1.73;1.73;1.73	5.45	5.45	0.79879	PDZ/DHR/GLGF (3);	0.000000	0.34245	U	0.004134	T	0.65821	0.2728	H	0.95187	3.635	0.80722	D	1	D;D;D	0.63880	0.993;0.99;0.993	D;D;D	0.76071	0.977;0.987;0.977	T	0.75772	-0.3200	10	0.62326	D	0.03	.	19.6414	0.95758	0.0:1.0:0.0:0.0	.	1227;1213;1227	E7EWI0;Q86UL8-2;Q86UL8	.;.;MAGI2_HUMAN	T	1213;1227;1227;1227	ENSP00000405766:R1213T;ENSP00000346151:R1227T;ENSP00000428389:R1227T	ENSP00000346151:R1227T	R	-	2	0	MAGI2	77546226	1.000000	0.71417	0.971000	0.41717	0.893000	0.52053	7.776000	0.85560	2.721000	0.93114	0.655000	0.94253	AGA	MAGI2	-	superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000187391		0.428	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGI2	HGNC	protein_coding	OTTHUMT00000253197.3	164	0.00	0	C	NM_012301		77708290	77708290	-1	no_errors	ENST00000354212	ensembl	human	known	69_37n	missense	139	21.91	39	SNP	1.000	G
MAGI3	260425	genome.wustl.edu	37	1	114224865	114224865	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:114224865G>A	ENST00000369615.1	+	21	3422	c.3360G>A	c.(3358-3360)gtG>gtA	p.V1120V	MAGI3_ENST00000369611.4_Silent_p.V1120V|MAGI3_ENST00000307546.9_Intron|MAGI3_ENST00000369617.4_Silent_p.V1145V	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	0	PDZ 6. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		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)		GCTCCTACGTGAAACCCGAGC	0.388																																						dbGAP											0													130.0	137.0	135.0					1																	114224865		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000369615.1:c.3360G>A	1.37:g.114224865G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Silent	SNP	pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin	p.V1120	ENST00000369615.1	37	c.3360	CCDS860.1	1																																																																																			MAGI3	-	NULL	ENSG00000081026		0.388	MAGI3-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	MAGI3	HGNC	protein_coding	OTTHUMT00000032428.1	163	0.00	0	G	NM_152900		114224865	114224865	+1	no_errors	ENST00000369611	ensembl	human	known	69_37n	silent	118	28.92	48	SNP	1.000	A
MALT1	10892	genome.wustl.edu	37	18	56400770	56400770	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr18:56400770G>C	ENST00000348428.3	+	11	1622	c.1364G>C	c.(1363-1365)gGa>gCa	p.G455A	MALT1_ENST00000345724.3_Missense_Mutation_p.G444A|RP11-126O1.4_ENST00000588835.1_RNA	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	455	Caspase-like.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|B-1 B cell differentiation (GO:0001923)|defense response (GO:0006952)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|nuclear export (GO:0051168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|protein oligomerization (GO:0051259)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of T cell receptor signaling pathway (GO:0050856)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell proliferation (GO:0042098)|T cell receptor signaling pathway (GO:0050852)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)|protein self-association (GO:0043621)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						AAAGAAACTGGACTTAATGTG	0.333			T	BIRC3	MALT																																	dbGAP		Dom	yes		18	18q21	10892	mucosa associated lymphoid tissue lymphoma translocation gene 1		L	0													85.0	92.0	90.0					18																	56400770		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11967.1, CCDS11968.1	18q21	2013-01-11			ENSG00000172175	ENSG00000172175		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6819	protein-coding gene	gene with protein product	"""paracaspase"""	604860		MLT		10339464, 10406266, 10523859	Standard	NM_006785		Approved		uc002lhm.1	Q9UDY8	OTTHUMG00000132761	ENST00000348428.3:c.1364G>C	18.37:g.56400770G>C	ENSP00000319279:p.Gly455Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NTB7|Q9ULX4	Missense_Mutation	SNP	pfam_Pept_C14_cat,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_DEATH-like,smart_Ig_sub,smart_Ig_sub2,pfscan_Pept_C14_ICE_p20,pfscan_Ig-like	p.G455A	ENST00000348428.3	37	c.1364	CCDS11967.1	18	.	.	.	.	.	.	.	.	.	.	G	22.8	4.342055	0.81911	.	.	ENSG00000172175	ENST00000348428;ENST00000345724	T;T	0.42131	0.98;0.98	5.52	5.52	0.82312	Peptidase C14, caspase catalytic (1);	0.000000	0.85682	D	0.000000	T	0.58264	0.2110	L	0.43554	1.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.985;0.991	T	0.52540	-0.8562	10	0.36615	T	0.2	-23.0211	19.0333	0.92967	0.0:0.0:1.0:0.0	.	444;455	Q9UDY8-2;Q9UDY8	.;MALT1_HUMAN	A	455;444	ENSP00000319279:G455A;ENSP00000304161:G444A	ENSP00000304161:G444A	G	+	2	0	MALT1	54551750	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.642000	0.83385	2.605000	0.88082	0.650000	0.86243	GGA	MALT1	-	pfam_Pept_C14_cat	ENSG00000172175		0.333	MALT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MALT1	HGNC	protein_coding	OTTHUMT00000256132.2	108	0.00	0	G			56400770	56400770	+1	no_errors	ENST00000348428	ensembl	human	known	69_37n	missense	56	27.27	21	SNP	1.000	C
MAML3	55534	genome.wustl.edu	37	4	140640941	140640941	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:140640941C>T	ENST00000509479.2	-	5	3809	c.2953G>A	c.(2953-2955)Ggc>Agc	p.G985S	MGST2_ENST00000515137.1_Intron	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					TAGCTGGCGCCATTGTTGAAT	0.572																																						dbGAP											0													49.0	52.0	51.0					4																	140640941		2082	4210	6292	-	-	-	SO:0001583	missense	0			AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.2953G>A	4.37:g.140640941C>T	ENSP00000421180:p.Gly985Ser	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Neuroggenic_mastermind-like_N	p.G985S	ENST00000509479.2	37	c.2953	CCDS54805.1	4	.	.	.	.	.	.	.	.	.	.	C	8.795	0.931446	0.18131	.	.	ENSG00000196782	ENST00000509479;ENST00000538400	T	0.22539	1.95	4.86	0.0881	0.14453	.	0.512933	0.20015	N	0.101027	T	0.22437	0.0541	M	0.77820	2.39	0.50467	D	0.99987	B;B	0.21071	0.051;0.051	B;B	0.17979	0.02;0.02	T	0.06162	-1.0842	10	0.26408	T	0.33	.	9.7771	0.40626	0.0:0.6527:0.0:0.3473	.	985;981	E7EVW8;Q96JK9	.;MAML3_HUMAN	S	985;292	ENSP00000421180:G985S	ENSP00000421180:G985S	G	-	1	0	MAML3	140860391	0.637000	0.27216	0.212000	0.23672	0.931000	0.56810	1.114000	0.31196	-0.267000	0.09325	0.591000	0.81541	GGC	MAML3	-	NULL	ENSG00000196782		0.572	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML3	HGNC	protein_coding	OTTHUMT00000364934.2	23	0.00	0	C			140640941	140640941	-1	no_errors	ENST00000509479	ensembl	human	known	69_37n	missense	30	23.08	9	SNP	0.646	T
MAN1A2	10905	genome.wustl.edu	37	1	117910925	117910925	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:117910925C>G	ENST00000356554.3	+	1	855	c.120C>G	c.(118-120)ctC>ctG	p.L40L	MAN1A2_ENST00000482811.1_3'UTR|RP11-188D8.1_ENST00000604156.1_lincRNA	NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	40					cellular protein metabolic process (GO:0044267)|lung alveolus development (GO:0048286)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		TTATTCTTCTCCTTATTCTTA	0.463																																					Ovarian(33;199 881 8228 13687 31538)	dbGAP											0													98.0	93.0	95.0					1																	117910925		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF027156	CCDS895.1	1p13	2008-02-05			ENSG00000198162	ENSG00000198162			6822	protein-coding gene	gene with protein product		604345				9592125	Standard	NM_006699		Approved	MAN1B	uc001ehd.1	O60476	OTTHUMG00000012149	ENST00000356554.3:c.120C>G	1.37:g.117910925C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H510	Silent	SNP	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.L40	ENST00000356554.3	37	c.120	CCDS895.1	1																																																																																			MAN1A2	-	NULL	ENSG00000198162		0.463	MAN1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN1A2	HGNC	protein_coding	OTTHUMT00000033593.1	114	0.00	0	C	NM_006699		117910925	117910925	+1	no_errors	ENST00000356554	ensembl	human	known	69_37n	silent	71	24.47	23	SNP	1.000	G
MAN1A2	10905	genome.wustl.edu	37	1	118035768	118035768	+	Splice_Site	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:118035768G>T	ENST00000356554.3	+	9	1903		c.e9-1			NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2						cellular protein metabolic process (GO:0044267)|lung alveolus development (GO:0048286)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		CTTTGTTACAGATCATACATC	0.363																																					Ovarian(33;199 881 8228 13687 31538)	dbGAP											0													94.0	90.0	91.0					1																	118035768		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF027156	CCDS895.1	1p13	2008-02-05			ENSG00000198162	ENSG00000198162			6822	protein-coding gene	gene with protein product		604345				9592125	Standard	NM_006699		Approved	MAN1B	uc001ehd.1	O60476	OTTHUMG00000012149	ENST00000356554.3:c.1169-1G>T	1.37:g.118035768G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H510	Splice_Site	SNP	-	e9-1	ENST00000356554.3	37	c.1169-1	CCDS895.1	1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.742323	0.69418	.	.	ENSG00000198162	ENST00000356554;ENST00000369450;ENST00000449370	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3553	0.83233	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAN1A2	117837291	1.000000	0.71417	0.997000	0.53966	0.705000	0.40729	9.311000	0.96282	2.456000	0.83038	0.655000	0.94253	.	MAN1A2	-	-	ENSG00000198162		0.363	MAN1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN1A2	HGNC	protein_coding	OTTHUMT00000033593.1	122	0.00	0	G	NM_006699	Intron	118035768	118035768	+1	no_errors	ENST00000356554	ensembl	human	known	69_37n	splice_site	90	13.46	14	SNP	1.000	T
MAN2C1	4123	genome.wustl.edu	37	15	75651118	75651118	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:75651118G>A	ENST00000267978.5	-	19	2219	c.2173C>T	c.(2173-2175)Cag>Tag	p.Q725*	MAN2C1_ENST00000569482.1_Nonsense_Mutation_p.Q725*|MAN2C1_ENST00000563622.1_Nonsense_Mutation_p.Q626*|MAN2C1_ENST00000565683.1_Nonsense_Mutation_p.Q742*	NM_006715.3	NP_006706.2	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	725					mannose metabolic process (GO:0006013)		alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						AGCACAAACTGGTTCCCCACG	0.572																																						dbGAP											0													126.0	86.0	99.0					15																	75651118		2197	4294	6491	-	-	-	SO:0001587	stop_gained	0			AF044414	CCDS32298.1, CCDS58389.1, CCDS58390.1, CCDS58391.1	15q24.2	2013-09-19			ENSG00000140400	ENSG00000140400	3.2.1.24		6827	protein-coding gene	gene with protein product		154580		MANA1, MANA		1757461, 752528	Standard	NM_006715		Approved		uc002bah.4	Q9NTJ4	OTTHUMG00000172698	ENST00000267978.5:c.2173C>T	15.37:g.75651118G>A	ENSP00000267978:p.Gln725*	Somatic		WXS	Illumina GAIIx	Phase_IV	H3BMX2|H3BQY8|H3BUT6|Q13358|Q68EM8|Q9UL64	Nonsense_Mutation	SNP	pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom	p.Q725*	ENST00000267978.5	37	c.2173	CCDS32298.1	15	.	.	.	.	.	.	.	.	.	.	G	38	7.259717	0.98171	.	.	ENSG00000140400	ENST00000267978	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-25.5223	18.4395	0.90660	0.0:0.0:1.0:0.0	.	.	.	.	X	725	.	ENSP00000267978:Q725X	Q	-	1	0	MAN2C1	73438171	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.569000	0.98170	2.703000	0.92315	0.561000	0.74099	CAG	MAN2C1	-	pfam_Glyco_hydro_38_C,superfamily_Glyco_hydro-type_carb-bd	ENSG00000140400		0.572	MAN2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN2C1	HGNC	protein_coding	OTTHUMT00000419965.1	56	0.00	0	G			75651118	75651118	-1	no_errors	ENST00000267978	ensembl	human	known	69_37n	nonsense	37	23.53	12	SNP	1.000	A
MAOB	4129	genome.wustl.edu	37	X	43652716	43652716	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:43652716G>A	ENST00000378069.4	-	8	1025	c.878C>T	c.(877-879)tCa>tTa	p.S293L	MAOB_ENST00000538942.1_Missense_Mutation_p.S277L|MAOB_ENST00000536181.1_Missense_Mutation_p.S277L	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN	monoamine oxidase B	293					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)	CTTGATGACTGAACCCAAAGG	0.403																																						dbGAP											0													94.0	79.0	84.0					X																	43652716		2203	4300	6503	-	-	-	SO:0001583	missense	0				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.878C>T	X.37:g.43652716G>A	ENSP00000367309:p.Ser293Leu	Somatic		WXS	Illumina GAIIx	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.S293L	ENST00000378069.4	37	c.878	CCDS14261.1	X	.	.	.	.	.	.	.	.	.	.	G	25.7	4.664316	0.88251	.	.	ENSG00000069535	ENST00000378069;ENST00000536181;ENST00000538942	D;D;D	0.93189	-3.18;-3.18;-3.18	5.97	5.06	0.68205	Amine oxidase (1);	0.124318	0.56097	D	0.000024	D	0.94902	0.8352	M	0.63208	1.945	0.80722	D	1	D;D	0.71674	0.998;0.996	D;D	0.68943	0.961;0.944	D	0.92376	0.5909	10	0.08837	T	0.75	-9.8602	15.66	0.77178	0.0:0.1333:0.8667:0.0	.	277;293	B7Z5H3;P27338	.;AOFB_HUMAN	L	293;277;277	ENSP00000367309:S293L;ENSP00000441613:S277L;ENSP00000442240:S277L	ENSP00000367309:S293L	S	-	2	0	MAOB	43537660	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	3.632000	0.54287	2.527000	0.85204	0.600000	0.82982	TCA	MAOB	-	pfam_Amino_oxidase	ENSG00000069535		0.403	MAOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAOB	HGNC	protein_coding	OTTHUMT00000056303.1	65	0.00	0	G	NM_000898		43652716	43652716	-1	no_errors	ENST00000378069	ensembl	human	known	69_37n	missense	70	18.39	16	SNP	1.000	A
MAP1A	4130	genome.wustl.edu	37	15	43821934	43821934	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:43821934G>A	ENST00000300231.5	+	5	8572	c.8122G>A	c.(8122-8124)Gac>Aac	p.D2708N	MAP1A_ENST00000399453.1_Missense_Mutation_p.D2708N|MAP1A_ENST00000382031.1_Missense_Mutation_p.D2946N			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2708					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CAAGACTGCTGACCTTGACTT	0.567																																						dbGAP											0													133.0	135.0	134.0					15																	43821934		2117	4248	6365	-	-	-	SO:0001583	missense	0			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.8122G>A	15.37:g.43821934G>A	ENSP00000300231:p.Asp2708Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	NULL	p.D2708N	ENST00000300231.5	37	c.8122	CCDS42031.1	15	.	.	.	.	.	.	.	.	.	.	G	17.57	3.421696	0.62622	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.02323	4.34;4.35;4.35	5.7	4.73	0.59995	.	.	.	.	.	T	0.12689	0.0308	L	0.58428	1.81	0.45837	D	0.998703	D	0.89917	1.0	D	0.97110	1.0	T	0.00178	-1.1951	9	0.72032	D	0.01	-18.3956	16.1643	0.81743	0.0:0.1332:0.8668:0.0	.	2708	P78559	MAP1A_HUMAN	N	2946;2708;2708	ENSP00000371462:D2946N;ENSP00000382380:D2708N;ENSP00000300231:D2708N	ENSP00000300231:D2708N	D	+	1	0	MAP1A	41609226	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.934000	0.87649	2.695000	0.91970	0.462000	0.41574	GAC	MAP1A	-	NULL	ENSG00000166963		0.567	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP1A	HGNC	protein_coding	OTTHUMT00000132894.5	52	0.00	0	G	NM_002373		43821934	43821934	+1	no_errors	ENST00000399453	ensembl	human	known	69_37n	missense	42	22.22	12	SNP	1.000	A
MAP2	4133	genome.wustl.edu	37	2	210558743	210558743	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:210558743G>A	ENST00000360351.4	+	7	2355	c.1849G>A	c.(1849-1851)Gac>Aac	p.D617N	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.D613N|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	617					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.D617N(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	TAAAAATGGTGACAAGGAGTT	0.443																																					Pancreas(27;423 979 28787 29963)	dbGAP											1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											68.0	66.0	67.0					2																	210558743		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.1849G>A	2.37:g.210558743G>A	ENSP00000353508:p.Asp617Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt	p.D617N	ENST00000360351.4	37	c.1849	CCDS2384.1	2	.	.	.	.	.	.	.	.	.	.	G	8.670	0.902571	0.17760	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.18960	2.18;2.18	6.16	6.16	0.99307	MAP2/Tau projection (1);	0.181630	0.39146	N	0.001442	T	0.23492	0.0568	L	0.40543	1.245	0.34867	D	0.743187	P;P	0.36354	0.493;0.549	B;B	0.39805	0.206;0.31	T	0.21314	-1.0249	10	0.72032	D	0.01	-12.2693	14.9398	0.70983	0.0675:0.0:0.9325:0.0	.	613;617	P11137-3;P11137	.;MAP2_HUMAN	N	617;613	ENSP00000353508:D617N;ENSP00000392164:D613N	ENSP00000353508:D617N	D	+	1	0	MAP2	210266988	1.000000	0.71417	0.824000	0.32777	0.126000	0.20510	5.108000	0.64609	2.937000	0.99478	0.650000	0.86243	GAC	MAP2	-	pfam_MAP2_projctn	ENSG00000078018		0.443	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP2	HGNC	protein_coding	OTTHUMT00000256521.2	37	0.00	0	G	NM_001039538		210558743	210558743	+1	no_errors	ENST00000360351	ensembl	human	known	69_37n	missense	29	23.68	9	SNP	0.965	A
MAP2K2	5605	genome.wustl.edu	37	19	4117570	4117570	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:4117570C>G	ENST00000262948.5	-	2	403	c.150G>C	c.(148-150)caG>caC	p.Q50H	MAP2K2_ENST00000599345.1_5'UTR|MAP2K2_ENST00000394867.4_5'UTR	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	50					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|MAPK cascade (GO:0000165)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine autophosphorylation (GO:0036289)|positive regulation of cell motility (GO:2000147)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|Ras protein signal transduction (GO:0007265)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of stress-activated MAPK cascade (GO:0032872)|small GTPase mediated signal transduction (GO:0007264)|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)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|scaffold protein binding (GO:0097110)						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)	Bosutinib(DB06616)|Trametinib(DB08911)	GCCGCTTCTTCTGCTGCTCGT	0.592																																						dbGAP											0													86.0	86.0	86.0					19																	4117570		2203	4300	6503	-	-	-	SO:0001583	missense	0			L11285	CCDS12120.1	19p13.3	2014-09-17			ENSG00000126934	ENSG00000126934	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6842	protein-coding gene	gene with protein product		601263		PRKMK2		8388392	Standard	NM_030662		Approved	MEK2	uc002lzk.3	P36507	OTTHUMG00000134286	ENST00000262948.5:c.150G>C	19.37:g.4117570C>G	ENSP00000262948:p.Gln50His	Somatic		WXS	Illumina GAIIx	Phase_IV		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,prints_Ser-Thr/Tyr_kinase_cat_dom	p.Q50H	ENST00000262948.5	37	c.150	CCDS12120.1	19	.	.	.	.	.	.	.	.	.	.	c	15.42	2.827169	0.50739	.	.	ENSG00000126934	ENST00000262948	D	0.94650	-3.48	4.14	-0.947	0.10382	.	0.000000	0.85682	D	0.000000	D	0.95987	0.8693	M	0.77313	2.365	0.80722	D	1	D	0.71674	0.998	D	0.79784	0.993	D	0.94294	0.7531	10	0.72032	D	0.01	-32.7336	9.7592	0.40522	0.0:0.6312:0.0:0.3688	.	50	P36507	MP2K2_HUMAN	H	50	ENSP00000262948:Q50H	ENSP00000262948:Q50H	Q	-	3	2	MAP2K2	4068570	0.995000	0.38212	0.998000	0.56505	0.598000	0.36846	0.460000	0.21924	0.061000	0.16311	-0.266000	0.10368	CAG	MAP2K2	-	NULL	ENSG00000126934		0.592	MAP2K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP2K2	HGNC	protein_coding	OTTHUMT00000258957.2	77	0.00	0	C			4117570	4117570	-1	no_errors	ENST00000262948	ensembl	human	known	69_37n	missense	60	20.00	15	SNP	1.000	G
MAP2K5	5607	genome.wustl.edu	37	15	68061993	68061993	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:68061993C>T	ENST00000178640.5	+	20	1815	c.1188C>T	c.(1186-1188)atC>atT	p.I396I	MAP2K5_ENST00000340972.4_Silent_p.I206I|MAP2K5_ENST00000395476.2_Silent_p.I386I|MAP2K5_ENST00000354498.5_Silent_p.I360I	NM_145160.2	NP_660143.1	Q13163	MP2K5_HUMAN	mitogen-activated protein kinase kinase 5	396	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cellular response to growth factor stimulus (GO:0071363)|cellular response to laminar fluid shear stress (GO:0071499)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000342)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1)	16						TACATTTCATCACTCAGTGGT	0.483																																						dbGAP											0													138.0	117.0	124.0					15																	68061993		2200	4298	6498	-	-	-	SO:0001819	synonymous_variant	0			U25265	CCDS10224.1, CCDS42051.1, CCDS55970.1	15q22.31	2011-06-09			ENSG00000137764	ENSG00000137764		"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6845	protein-coding gene	gene with protein product		602520		PRKMK5		7759517	Standard	NM_002757		Approved	MEK5, MAPKK5, HsT17454	uc002aqu.3	Q13163	OTTHUMG00000133264	ENST00000178640.5:c.1188C>T	15.37:g.68061993C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DE43|Q92961|Q92962	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,superfamily_Kinase-like_dom,smart_OPR_PB1,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.I396	ENST00000178640.5	37	c.1188	CCDS10224.1	15																																																																																			MAP2K5	-	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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000137764		0.483	MAP2K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP2K5	HGNC	protein_coding	OTTHUMT00000257041.1	121	0.00	0	C	NM_145162		68061993	68061993	+1	no_errors	ENST00000178640	ensembl	human	known	69_37n	silent	72	33.33	36	SNP	1.000	T
MAP3K1	4214	genome.wustl.edu	37	5	56160574	56160574	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:56160574G>C	ENST00000399503.3	+	4	848	c.848G>C	c.(847-849)aGa>aCa	p.R283T	AC008937.2_ENST00000415589.1_RNA	NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	283					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|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)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		CAGAGTGGCAGAATCACACCA	0.463																																						dbGAP											0													71.0	73.0	72.0					5																	56160574		1868	4108	5976	-	-	-	SO:0001583	missense	0			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.848G>C	5.37:g.56160574G>C	ENSP00000382423:p.Arg283Thr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom	p.R283T	ENST00000399503.3	37	c.848	CCDS43318.1	5	.	.	.	.	.	.	.	.	.	.	G	26.0	4.690713	0.88735	.	.	ENSG00000095015	ENST00000399503	T	0.72942	-0.7	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.77039	0.4072	N	0.22421	0.69	0.58432	D	0.999997	D	0.63880	0.993	D	0.72338	0.977	T	0.79257	-0.1878	10	0.72032	D	0.01	.	20.0401	0.97581	0.0:0.0:1.0:0.0	.	283	Q13233	M3K1_HUMAN	T	283	ENSP00000382423:R283T	ENSP00000382423:R283T	R	+	2	0	MAP3K1	56196331	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	8.498000	0.90492	2.805000	0.96524	0.655000	0.94253	AGA	MAP3K1	-	NULL	ENSG00000095015		0.463	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2	67	0.00	0	G	XM_042066		56160574	56160574	+1	no_errors	ENST00000399503	ensembl	human	novel	69_37n	missense	48	25.00	16	SNP	1.000	C
MAP3K10	4294	genome.wustl.edu	37	19	40698484	40698484	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:40698484G>A	ENST00000253055.3	+	1	834	c.546G>A	c.(544-546)ctG>ctA	p.L182L	MAP3K10_ENST00000593906.1_Intron	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	182	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|JNK cascade (GO:0007254)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|bHLH transcription factor binding (GO:0043425)|JUN kinase kinase kinase activity (GO:0004706)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription corepressor activity (GO:0003714)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GTGGTGCACTGAGCAGGGTGC	0.637																																						dbGAP											0													42.0	42.0	42.0					19																	40698484		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X90846	CCDS12549.1	19q13.2	2014-08-12			ENSG00000130758		2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6849	protein-coding gene	gene with protein product	"""MKN28 kinase"", ""mixed lineage kinase 2"", ""MKN28 derived nonreceptor_type serine/threonine kinase"""	600137		MLK2		8536694, 7731697	Standard	NM_002446		Approved	MST, MEKK10	uc002ona.3	Q02779	OTTHUMG00000182591	ENST00000253055.3:c.546G>A	19.37:g.40698484G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q12761|Q14871	Silent	SNP	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom	p.L182	ENST00000253055.3	37	c.546	CCDS12549.1	19																																																																																			MAP3K10	-	pirsf_MAPKKK9/10/11,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	ENSG00000130758		0.637	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K10	HGNC	protein_coding	OTTHUMT00000462552.1	19	0.00	0	G	NM_002446		40698484	40698484	+1	no_errors	ENST00000253055	ensembl	human	known	69_37n	silent	8	61.90	13	SNP	1.000	A
MAP3K13	9175	genome.wustl.edu	37	3	185155363	185155363	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:185155363G>A	ENST00000265026.3	+	3	938	c.604G>A	c.(604-606)Gag>Aag	p.E202K	MAP3K13_ENST00000535426.1_Missense_Mutation_p.E58K|MAP3K13_ENST00000446828.1_Intron|MAP3K13_ENST00000424227.1_Missense_Mutation_p.E202K|MAP3K13_ENST00000443863.1_Missense_Mutation_p.E58K	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13											NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AGAACAGAATGAGACGGATAT	0.468																																						dbGAP											0													125.0	114.0	117.0					3																	185155363		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6852	protein-coding gene	gene with protein product	"""leucine zipper-bearing kinase"""	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.604G>A	3.37:g.185155363G>A	ENSP00000265026:p.Glu202Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pirsf_MAP3K12_MAP3K13,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.E202K	ENST00000265026.3	37	c.604	CCDS3270.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.624071	0.96660	.	.	ENSG00000073803	ENST00000424227;ENST00000443863;ENST00000535426;ENST00000265026;ENST00000420577	D;D;D;D;T	0.82619	-1.63;-1.63;-1.63;-1.63;0.09	5.75	5.75	0.90469	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.82273	0.5001	N	0.21545	0.675	0.80722	D	1	P;P	0.38148	0.566;0.62	B;P	0.47705	0.419;0.555	T	0.81881	-0.0729	10	0.48119	T	0.1	.	19.949	0.97192	0.0:0.0:1.0:0.0	.	58;202	O43283-4;O43283	.;M3K13_HUMAN	K	202;58;58;202;11	ENSP00000399910:E202K;ENSP00000409325:E58K;ENSP00000439257:E58K;ENSP00000265026:E202K;ENSP00000415712:E11K	ENSP00000265026:E202K	E	+	1	0	MAP3K13	186638057	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.807000	0.99171	2.706000	0.92434	0.655000	0.94253	GAG	MAP3K13	-	pirsf_MAP3K12_MAP3K13,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	ENSG00000073803		0.468	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K13	HGNC	protein_coding	OTTHUMT00000345268.1	56	0.00	0	G	NM_004721		185155363	185155363	+1	no_errors	ENST00000265026	ensembl	human	known	69_37n	missense	67	15.19	12	SNP	1.000	A
MAP3K15	389840	genome.wustl.edu	37	X	19433296	19433296	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:19433296C>G	ENST00000338883.4	-	10	1518	c.1519G>C	c.(1519-1521)Gag>Cag	p.E507Q	MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000359173.3_5'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.E339Q	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	507							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					TTCAGCCGCTCTTGCCTGGGC	0.378																																						dbGAP											0													42.0	33.0	36.0					X																	19433296		1566	3576	5142	-	-	-	SO:0001583	missense	0			AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.1519G>C	X.37:g.19433296C>G	ENSP00000345629:p.Glu507Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E507Q	ENST00000338883.4	37	c.1519		X	.	.	.	.	.	.	.	.	.	.	C	15.52	2.856651	0.51376	.	.	ENSG00000180815	ENST00000338883;ENST00000469203	T;T	0.09350	2.99;2.99	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.11623	0.0283	L	0.31157	0.91	0.80722	D	1	.	.	.	.	.	.	T	0.01889	-1.1253	8	0.02654	T	1	.	18.4543	0.90714	0.0:1.0:0.0:0.0	.	.	.	.	Q	507;339	ENSP00000345629:E507Q;ENSP00000428356:E339Q	ENSP00000345629:E507Q	E	-	1	0	MAP3K15	19343217	1.000000	0.71417	0.200000	0.23457	0.548000	0.35241	5.681000	0.68175	2.385000	0.81259	0.596000	0.82720	GAG	MAP3K15	-	NULL	ENSG00000180815		0.378	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	MAP3K15	HGNC	protein_coding		79	0.00	0	C	NM_001001671		19433296	19433296	-1	no_errors	ENST00000338883	ensembl	human	known	69_37n	missense	71	19.32	17	SNP	1.000	G
MAP3K2	10746	genome.wustl.edu	37	2	128066245	128066245	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:128066245C>A	ENST00000409947.1	-	16	1832	c.1550G>T	c.(1549-1551)gGa>gTa	p.G517V	MAP3K2_ENST00000344908.5_Missense_Mutation_p.G517V			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	517	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)	Bosutinib(DB06616)	AGACTTCATTCCTGTCCCTGA	0.483																																						dbGAP											0													190.0	190.0	190.0					2																	128066245		2001	4195	6196	-	-	-	SO:0001583	missense	0			AF111105	CCDS46404.1	2q21.1	2011-06-09			ENSG00000169967	ENSG00000169967		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6854	protein-coding gene	gene with protein product	"""MAP/ERK kinase kinase 2"""	609487		MEKK2		8621389, 10085062	Standard	NM_006609		Approved	MEKK2B	uc002toj.2	Q9Y2U5	OTTHUMG00000153397	ENST00000409947.1:c.1550G>T	2.37:g.128066245C>A	ENSP00000387246:p.Gly517Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EG87|Q53QL9|Q53S75|Q59GZ6|Q8NC32|Q9NYK3	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.G517V	ENST00000409947.1	37	c.1550	CCDS46404.1	2	.	.	.	.	.	.	.	.	.	.	C	25.8	4.680049	0.88542	.	.	ENSG00000169967	ENST00000409947;ENST00000344908	T;T	0.64618	-0.11;-0.11	5.64	5.64	0.86602	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.63082	0.2481	L	0.28649	0.875	0.80722	D	1	P	0.42078	0.77	P	0.48089	0.566	T	0.63594	-0.6602	10	0.51188	T	0.08	.	19.7201	0.96139	0.0:1.0:0.0:0.0	.	517	Q9Y2U5	M3K2_HUMAN	V	517	ENSP00000387246:G517V;ENSP00000343463:G517V	ENSP00000343463:G517V	G	-	2	0	MAP3K2	127782715	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.916000	0.69981	2.661000	0.90470	0.561000	0.74099	GGA	MAP3K2	-	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	ENSG00000169967		0.483	MAP3K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K2	HGNC	protein_coding	OTTHUMT00000331014.1	90	0.00	0	C	NM_006609		128066245	128066245	-1	no_errors	ENST00000344908	ensembl	human	known	69_37n	missense	85	23.42	26	SNP	1.000	A
MAP3K2	10746	genome.wustl.edu	37	2	128075243	128075243	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:128075243delC	ENST00000409947.1	-	14	1570	c.1288delG	c.(1288-1290)gaafs	p.E430fs	RNU6-1147P_ENST00000363380.1_RNA|MAP3K2_ENST00000344908.5_Frame_Shift_Del_p.E430fs			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	430	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)	Bosutinib(DB06616)	AGTGTTTTTTCCTGGGGATCC	0.323																																						dbGAP											0													46.0	43.0	44.0					2																	128075243		1813	4074	5887	-	-	-	SO:0001589	frameshift_variant	0			AF111105	CCDS46404.1	2q21.1	2011-06-09			ENSG00000169967	ENSG00000169967		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6854	protein-coding gene	gene with protein product	"""MAP/ERK kinase kinase 2"""	609487		MEKK2		8621389, 10085062	Standard	NM_006609		Approved	MEKK2B	uc002toj.2	Q9Y2U5	OTTHUMG00000153397	ENST00000409947.1:c.1288delG	2.37:g.128075243delC	ENSP00000387246:p.Glu430fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EG87|Q53QL9|Q53S75|Q59GZ6|Q8NC32|Q9NYK3	Frame_Shift_Del	DEL	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E430fs	ENST00000409947.1	37	c.1288	CCDS46404.1	2																																																																																			MAP3K2	-	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	ENSG00000169967		0.323	MAP3K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K2	HGNC	protein_coding	OTTHUMT00000331014.1	69	0.00	0	C	NM_006609		128075243	128075243	-1	no_errors	ENST00000344908	ensembl	human	known	69_37n	frame_shift_del	74	10.47	9	DEL	1.000	-
MAP3K5	4217	genome.wustl.edu	37	6	136901529	136901529	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:136901529G>A	ENST00000359015.4	-	25	3787	c.3427C>T	c.(3427-3429)Cgg>Tgg	p.R1143W	MAP3K5_ENST00000355845.4_Missense_Mutation_p.R390W|MAP3K5_ENST00000463140.1_5'UTR	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	1143					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TTATGATTCCGAAGAACTTTA	0.413																																						dbGAP											0													134.0	122.0	126.0					6																	136901529		2203	4300	6503	-	-	-	SO:0001583	missense	0			U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.3427C>T	6.37:g.136901529G>A	ENSP00000351908:p.Arg1143Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R1143W	ENST00000359015.4	37	c.3427	CCDS5179.1	6	.	.	.	.	.	.	.	.	.	.	G	20.7	4.042134	0.75732	.	.	ENSG00000197442	ENST00000359015;ENST00000355845;ENST00000367768	T;D	0.82255	-1.42;-1.59	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	D	0.90280	0.6960	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.993	D	0.91648	0.5332	10	0.87932	D	0	.	14.3705	0.66836	0.0:0.0:0.8515:0.1485	.	1224;1143	Q59GL6;Q99683	.;M3K5_HUMAN	W	1143;390;1223	ENSP00000351908:R1143W;ENSP00000348104:R390W	ENSP00000348104:R390W	R	-	1	2	MAP3K5	136943222	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.779000	0.47734	2.457000	0.83068	0.591000	0.81541	CGG	MAP3K5	-	NULL	ENSG00000197442		0.413	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K5	HGNC	protein_coding	OTTHUMT00000042383.1	117	0.00	0	G			136901529	136901529	-1	no_errors	ENST00000359015	ensembl	human	known	69_37n	missense	72	24.74	24	SNP	1.000	A
MAP3K4	4216	genome.wustl.edu	37	6	161523001	161523001	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:161523001C>A	ENST00000392142.4	+	18	3900	c.3752C>A	c.(3751-3753)tCa>tAa	p.S1251*	MAP3K4_ENST00000366919.2_Nonsense_Mutation_p.S1201*|MAP3K4_ENST00000366920.2_Nonsense_Mutation_p.S1247*|MAP3K4_ENST00000348824.7_Nonsense_Mutation_p.S1197*	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1251					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		AGTCGTCACTCAAGCCCCACG	0.423																																						dbGAP											0													97.0	84.0	89.0					6																	161523001		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.3752C>A	6.37:g.161523001C>A	ENSP00000375986:p.Ser1251*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Nonsense_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.S1251*	ENST00000392142.4	37	c.3752	CCDS34565.1	6	.	.	.	.	.	.	.	.	.	.	C	43	10.419521	0.99401	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	.	.	.	5.89	5.89	0.94794	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.0804	20.2566	0.98424	0.0:1.0:0.0:0.0	.	.	.	.	X	1201;1251;1201;1247;1197	.	ENSP00000297332:S1197X	S	+	2	0	MAP3K4	161442991	1.000000	0.71417	0.399000	0.26333	0.994000	0.84299	6.956000	0.76013	2.793000	0.96121	0.561000	0.74099	TCA	MAP3K4	-	NULL	ENSG00000085511		0.423	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K4	HGNC	protein_coding	OTTHUMT00000042988.3	85	0.00	0	C			161523001	161523001	+1	no_errors	ENST00000392142	ensembl	human	known	69_37n	nonsense	48	29.41	20	SNP	0.087	A
MAP4K4	9448	genome.wustl.edu	37	2	102505374	102505374	+	Missense_Mutation	SNP	T	T	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:102505374T>C	ENST00000347699.4	+	29	3613	c.3613T>C	c.(3613-3615)Ttc>Ctc	p.F1205L	MAP4K4_ENST00000302217.5_Missense_Mutation_p.F1008L|MAP4K4_ENST00000425019.1_Missense_Mutation_p.F1238L|MAP4K4_ENST00000324219.4_Missense_Mutation_p.F1286L|MAP4K4_ENST00000350198.4_Missense_Mutation_p.F1132L|MAP4K4_ENST00000456652.1_Missense_Mutation_p.F1004L|MAP4K4_ENST00000350878.4_Missense_Mutation_p.F1245L|MAP4K4_ENST00000413150.2_Missense_Mutation_p.F1120L	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	1205	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.|Mediates interaction with RAP2A.				intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AAGACTAAAATTCTTGTGTGA	0.408																																						dbGAP											0													105.0	104.0	104.0					2																	102505374		1878	4109	5987	-	-	-	SO:0001583	missense	0			AF096300	CCDS56130.1, CCDS74546.1	2q11.2-q12	2011-06-09			ENSG00000071054	ENSG00000071054		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6866	protein-coding gene	gene with protein product	"""HPK/GCK-like kinase"", ""hepatocyte progenitor kinase-like/germinal center kinase-like kinase"""	604666				9890973, 9734811, 9135144	Standard	NM_004834		Approved	HGK, NIK, FLH21957	uc002tbf.3	O95819	OTTHUMG00000155394	ENST00000347699.4:c.3613T>C	2.37:g.102505374T>C	ENSP00000314363:p.Phe1205Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	O75172|Q9NST7	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.F1286L	ENST00000347699.4	37	c.3856	CCDS56130.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	34|34	5.316340|5.316340	0.95655|0.95655	.|.	.|.	ENSG00000071054|ENSG00000071054	ENST00000425019;ENST00000324219;ENST00000350198;ENST00000302217;ENST00000413150;ENST00000456652;ENST00000347699;ENST00000417294;ENST00000350878|ENST00000421882	T;T;T;T;T;T;T;T;T|.	0.05081|.	3.5;3.5;3.5;3.5;3.5;3.5;3.5;3.5;3.5|.	5.6|5.6	5.6|5.6	0.85130|0.85130	Citron-like (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.80031|0.80031	0.4549|0.4549	M|M	0.86651|0.86651	2.83|2.83	0.80722|0.80722	D|D	1|1	D;D;D;D;P;D;D;P;D;D|.	0.89917|.	0.985;0.963;1.0;0.994;0.954;0.996;1.0;0.954;1.0;0.989|.	D;D;D;D;D;D;D;D;D;D|.	0.91635|.	0.977;0.966;0.997;0.977;0.943;0.982;0.994;0.943;0.999;0.952|.	T|T	0.82868|0.82868	-0.0244|-0.0244	10|5	0.87932|.	D|.	0|.	.|.	15.7946|15.7946	0.78401|0.78401	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1245;1201;1004;1008;1131;1205;1238;1132;1177;1286|.	B7Z388;B7Z3V5;E7EX83;C9J840;O95819-4;O95819;E7EN19;G3XAA2;O95819-2;G5E948|.	.;.;.;.;.;M4K4_HUMAN;.;.;.;.|.	L|T	1238;1286;1132;1008;1120;1004;1205;1136;1245|1021	ENSP00000392830:F1238L;ENSP00000313644:F1286L;ENSP00000281111:F1132L;ENSP00000303600:F1008L;ENSP00000389752:F1120L;ENSP00000387370:F1004L;ENSP00000314363:F1205L;ENSP00000409720:F1136L;ENSP00000343658:F1245L|.	ENSP00000303600:F1008L|.	F|I	+|+	1|2	0|0	MAP4K4|MAP4K4	101871806|101871806	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.991000|0.991000	0.79684|0.79684	7.931000|7.931000	0.87625|0.87625	2.127000|2.127000	0.65507|0.65507	0.528000|0.528000	0.53228|0.53228	TTC|ATT	MAP4K4	-	pfam_Citron,smart_Citron	ENSG00000071054		0.408	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	MAP4K4	HGNC	protein_coding	OTTHUMT00000339839.1	111	0.00	0	T	NM_004834		102505374	102505374	+1	no_errors	ENST00000324219	ensembl	human	known	69_37n	missense	75	22.68	22	SNP	1.000	C
MAP7	9053	genome.wustl.edu	37	6	136667051	136667051	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:136667051C>T	ENST00000354570.3	-	17	2592	c.2182G>A	c.(2182-2184)Gaa>Aaa	p.E728K	MAP7_ENST00000454590.1_Missense_Mutation_p.E750K|MAP7_ENST00000432797.2_Missense_Mutation_p.E582K|MAP7_ENST00000438100.2_Missense_Mutation_p.E713K|MAP7_ENST00000544465.1_Missense_Mutation_p.E713K	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	728					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|establishment or maintenance of cell polarity (GO:0007163)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells (GO:0048872)|Leydig cell differentiation (GO:0033327)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nucleus organization (GO:0006997)|organ growth (GO:0035265)|protein localization to plasma membrane (GO:0072659)|response to osmotic stress (GO:0006970)|response to retinoic acid (GO:0032526)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		AGTGTCCCTTCATCATCAAAG	0.448																																						dbGAP											0													78.0	71.0	73.0					6																	136667051		2203	4300	6503	-	-	-	SO:0001583	missense	0			X73882	CCDS5178.1, CCDS56452.1, CCDS56453.1, CCDS56454.1, CCDS56455.1, CCDS75527.1, CCDS75528.1, CCDS75529.1	6q23.2	2008-07-28			ENSG00000135525	ENSG00000135525			6869	protein-coding gene	gene with protein product		604108				8408219	Standard	NM_003980		Approved	E-MAP-115	uc011edg.2	Q14244	OTTHUMG00000015646	ENST00000354570.3:c.2182G>A	6.37:g.136667051C>T	ENSP00000346581:p.Glu728Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	Missense_Mutation	SNP	pfam_E-MAP-115	p.E750K	ENST00000354570.3	37	c.2248	CCDS5178.1	6	.	.	.	.	.	.	.	.	.	.	C	13.92	2.382109	0.42207	.	.	ENSG00000135525	ENST00000354570;ENST00000454590;ENST00000544465;ENST00000438100;ENST00000432797;ENST00000345567	T;T;T;T;T	0.13307	2.61;2.6;2.61;2.61;2.62	6.05	5.08	0.68730	.	0.110183	0.40469	N	0.001081	T	0.04815	0.0130	L	0.31207	0.915	0.33895	D	0.637786	B;B;B;B;B;B;B	0.33883	0.184;0.31;0.394;0.43;0.28;0.054;0.274	B;B;B;B;B;B;B	0.39465	0.042;0.042;0.3;0.158;0.091;0.068;0.158	T	0.33497	-0.9866	10	0.23302	T	0.38	-12.7701	7.3637	0.26760	0.0:0.8211:0.0:0.1789	.	713;750;713;750;634;691;728	B7Z290;B7ZB64;F5H1E2;E9PCP3;F8W783;Q14244-2;Q14244	.;.;.;.;.;.;MAP7_HUMAN	K	728;750;713;713;582;634	ENSP00000346581:E728K;ENSP00000414712:E750K;ENSP00000445737:E713K;ENSP00000400790:E713K;ENSP00000414879:E582K	ENSP00000344217:E634K	E	-	1	0	MAP7	136708744	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	1.353000	0.34045	2.880000	0.98712	0.655000	0.94253	GAA	MAP7	-	NULL	ENSG00000135525		0.448	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP7	HGNC	protein_coding	OTTHUMT00000042382.2	77	0.00	0	C	NM_003980		136667051	136667051	-1	no_errors	ENST00000454590	ensembl	human	known	69_37n	missense	51	19.05	12	SNP	1.000	T
MAP7	9053	genome.wustl.edu	37	6	136710561	136710561	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:136710561C>T	ENST00000354570.3	-	4	749	c.339G>A	c.(337-339)caG>caA	p.Q113Q	MAP7_ENST00000454590.1_Silent_p.Q135Q|MAP7_ENST00000432797.2_5'UTR|MAP7_ENST00000438100.2_Silent_p.Q135Q|MAP7_ENST00000544465.1_Silent_p.Q98Q	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	113					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|establishment or maintenance of cell polarity (GO:0007163)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells (GO:0048872)|Leydig cell differentiation (GO:0033327)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nucleus organization (GO:0006997)|organ growth (GO:0035265)|protein localization to plasma membrane (GO:0072659)|response to osmotic stress (GO:0006970)|response to retinoic acid (GO:0032526)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		CCTTCTGCCTCTGCTCCTCCA	0.572																																						dbGAP											0													125.0	119.0	121.0					6																	136710561		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X73882	CCDS5178.1, CCDS56452.1, CCDS56453.1, CCDS56454.1, CCDS56455.1, CCDS75527.1, CCDS75528.1, CCDS75529.1	6q23.2	2008-07-28			ENSG00000135525	ENSG00000135525			6869	protein-coding gene	gene with protein product		604108				8408219	Standard	NM_003980		Approved	E-MAP-115	uc011edg.2	Q14244	OTTHUMG00000015646	ENST00000354570.3:c.339G>A	6.37:g.136710561C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	Silent	SNP	pfam_E-MAP-115	p.Q135	ENST00000354570.3	37	c.405	CCDS5178.1	6																																																																																			MAP7	-	NULL	ENSG00000135525		0.572	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP7	HGNC	protein_coding	OTTHUMT00000042382.2	134	0.00	0	C	NM_003980		136710561	136710561	-1	no_errors	ENST00000454590	ensembl	human	known	69_37n	silent	85	30.33	37	SNP	1.000	T
MAPK10	5602	genome.wustl.edu	37	4	87023066	87023066	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:87023066G>C	ENST00000359221.3	-	7	1071	c.545C>G	c.(544-546)tCt>tGt	p.S182C	MAPK10_ENST00000395166.1_Missense_Mutation_p.S144C|MAPK10_ENST00000395161.2_Missense_Mutation_p.S182C|MAPK10_ENST00000395157.3_Missense_Mutation_p.S37C|MAPK10_ENST00000449047.2_Missense_Mutation_p.S37C|MAPK10_ENST00000513839.1_5'Flank|MAPK10_ENST00000395160.3_Missense_Mutation_p.S37C|MAPK10_ENST00000395169.3_Missense_Mutation_p.S144C|MAPK10_ENST00000361569.2_Missense_Mutation_p.S182C			P53779	MK10_HUMAN	mitogen-activated protein kinase 10	182	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|JUN kinase activity (GO:0004705)|MAP kinase kinase activity (GO:0004708)			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		AATTCCAGCAGAATGGAGGTG	0.398																																						dbGAP											0													182.0	173.0	176.0					4																	87023066		2203	4300	6503	-	-	-	SO:0001583	missense	0			U07620	CCDS3612.1, CCDS3613.1, CCDS34026.1, CCDS43247.1	4q22-q23	2011-06-09			ENSG00000109339	ENSG00000109339	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6872	protein-coding gene	gene with protein product		602897		PRKM10		8654373, 12436199	Standard	NM_002753		Approved	JNK3, p493F12, p54bSAPK	uc003hpt.3	P53779	OTTHUMG00000130604	ENST00000359221.3:c.545C>G	4.37:g.87023066G>C	ENSP00000352157:p.Ser182Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFS3|A6NG28|B3KQ94|Q15707|Q49AP1	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_JNK	p.S182C	ENST00000359221.3	37	c.545	CCDS34026.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.5|29.5	5.015316|5.015316	0.93404|0.93404	.|.	.|.	ENSG00000109339|ENSG00000109339	ENST00000515400|ENST00000395169;ENST00000359221;ENST00000395157;ENST00000361569;ENST00000395166;ENST00000395160;ENST00000449047;ENST00000395161	.|D;D;D;D;D;D;D;D	.|0.85013	.|-1.93;-1.93;-1.93;-1.93;-1.93;-1.93;-1.93;-1.93	5.94|5.94	5.94|5.94	0.96194|0.96194	.|Serine/threonine-protein kinase-like domain (1);MAP kinase, conserved site (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.93789|0.93789	0.8014|0.8014	M|M	0.89904|0.89904	3.07|3.07	0.80722|0.80722	D|D	1|1	.|D;D;D;D;P	.|0.64830	.|0.989;0.994;0.962;0.978;0.937	.|P;D;P;P;P	.|0.64237	.|0.906;0.923;0.731;0.731;0.773	D|D	0.94138|0.94138	0.7394|0.7394	5|10	.|0.87932	.|D	.|0	-3.3227|-3.3227	20.3771|20.3771	0.98923|0.98923	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|68;37;144;182;182	.|B7Z1Z1;Q499Y8;P53779-3;P53779-2;P53779	.|.;.;.;.;MK10_HUMAN	L|C	94|144;182;37;182;144;37;37;182	.|ENSP00000378598:S144C;ENSP00000352157:S182C;ENSP00000378586:S37C;ENSP00000355297:S182C;ENSP00000378595:S144C;ENSP00000378589:S37C;ENSP00000414469:S37C;ENSP00000378590:S182C	.|ENSP00000352157:S182C	F|S	-|-	3|2	2|0	MAPK10|MAPK10	87242090|87242090	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.754000|9.754000	0.98908|0.98908	2.824000|2.824000	0.97209|0.97209	0.650000|0.650000	0.86243|0.86243	TTC|TCT	MAPK10	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_JNK	ENSG00000109339		0.398	MAPK10-012	KNOWN	basic|CCDS	protein_coding	MAPK10	HGNC	protein_coding	OTTHUMT00000361363.2	97	0.00	0	G			87023066	87023066	-1	no_errors	ENST00000359221	ensembl	human	known	69_37n	missense	77	31.86	36	SNP	1.000	C
MAPK1IP1L	93487	genome.wustl.edu	37	14	55529446	55529446	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:55529446G>A	ENST00000395468.4	+	3	306	c.129G>A	c.(127-129)ccG>ccA	p.P43P	MAPK1IP1L_ENST00000554364.1_3'UTR	NM_144578.3	NP_653179.1	Q8NDC0	MISSL_HUMAN	mitogen-activated protein kinase 1 interacting protein 1-like	43	Pro-rich.									endometrium(2)|large_intestine(1)|lung(3)	6						GGAATAATCCGAGTGCTCCAT	0.552																																						dbGAP											0													74.0	68.0	70.0					14																	55529446		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK025580	CCDS32085.1	14q22.1	2008-01-30	2008-01-30	2008-01-16		ENSG00000168175			19840	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 32"", ""mitogen activated protein kinase 1 interacting protein 1-like"""	C14orf32		12011110	Standard	NM_144578		Approved		uc001xbq.1	Q8NDC0		ENST00000395468.4:c.129G>A	14.37:g.55529446G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDD8|Q96BG5	Silent	SNP	NULL	p.P43	ENST00000395468.4	37	c.129	CCDS32085.1	14																																																																																			MAPK1IP1L	-	NULL	ENSG00000168175		0.552	MAPK1IP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK1IP1L	HGNC	protein_coding	OTTHUMT00000411302.2	47	0.00	0	G	NM_144578		55529446	55529446	+1	no_errors	ENST00000395468	ensembl	human	known	69_37n	silent	27	46.15	24	SNP	0.902	A
MAPK8IP3	23162	genome.wustl.edu	37	16	1756392	1756392	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:1756392G>A	ENST00000250894.4	+	1	209	c.52G>A	c.(52-54)Gac>Aac	p.D18N	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.D18N	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	18					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						GTACCAGGACGACTACTGCTC	0.706																																						dbGAP											0													24.0	27.0	26.0					16																	1756392		2199	4299	6498	-	-	-	SO:0001583	missense	0			AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"""homolog of Drosophila Sunday driver 2"""	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.52G>A	16.37:g.1756392G>A	ENSP00000250894:p.Asp18Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom	p.D18N	ENST00000250894.4	37	c.52	CCDS10442.2	16	.	.	.	.	.	.	.	.	.	.	G	15.96	2.987203	0.53934	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.35236	1.32;1.32	3.26	3.26	0.37387	.	0.062767	0.64402	D	0.000007	T	0.30727	0.0774	L	0.43152	1.355	0.80722	D	1	P;P;P;P	0.48503	0.5;0.911;0.788;0.89	B;B;B;B	0.39935	0.087;0.314;0.169;0.213	T	0.30621	-0.9972	10	0.56958	D	0.05	-20.0065	14.2548	0.66043	0.0:0.0:1.0:0.0	.	18;18;18;18	B7ZMF3;E9PFH7;Q9UPT6;Q9UPT6-2	.;.;JIP3_HUMAN;.	N	18	ENSP00000250894:D18N;ENSP00000348290:D18N	ENSP00000250894:D18N	D	+	1	0	MAPK8IP3	1696393	1.000000	0.71417	0.998000	0.56505	0.699000	0.40488	8.970000	0.93415	1.640000	0.50565	0.185000	0.17295	GAC	MAPK8IP3	-	NULL	ENSG00000138834		0.706	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK8IP3	HGNC	protein_coding	OTTHUMT00000250508.2	21	0.00	0	G	NM_001040439		1756392	1756392	+1	no_errors	ENST00000250894	ensembl	human	known	69_37n	missense	27	20.59	7	SNP	1.000	A
MAPK8IP3	23162	genome.wustl.edu	37	16	1756461	1756461	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:1756461G>C	ENST00000250894.4	+	1	278	c.121G>C	c.(121-123)Gag>Cag	p.E41Q	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.E41Q	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	41					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CCGCGAGTTCGAGCGCCTCAT	0.652																																						dbGAP											0													53.0	53.0	53.0					16																	1756461		2199	4300	6499	-	-	-	SO:0001583	missense	0			AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"""homolog of Drosophila Sunday driver 2"""	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.121G>C	16.37:g.1756461G>C	ENSP00000250894:p.Glu41Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom	p.E41Q	ENST00000250894.4	37	c.121	CCDS10442.2	16	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052655	0.75960	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.64991	-0.13;-0.13	3.41	3.41	0.39046	JNK/Rab-associated protein-1, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.75317	0.3833	M	0.62154	1.92	0.80722	D	1	D;D;D;D	0.89917	0.987;0.999;1.0;0.996	D;D;D;D	0.91635	0.966;0.991;0.999;0.989	T	0.78298	-0.2258	10	0.56958	D	0.05	-22.0987	14.5856	0.68322	0.0:0.0:1.0:0.0	.	41;41;41;41	B7ZMF3;E9PFH7;Q9UPT6;Q9UPT6-2	.;.;JIP3_HUMAN;.	Q	41	ENSP00000250894:E41Q;ENSP00000348290:E41Q	ENSP00000250894:E41Q	E	+	1	0	MAPK8IP3	1696462	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	9.176000	0.94839	1.730000	0.51580	0.185000	0.17295	GAG	MAPK8IP3	-	pfam_JNK/Rab-associated_protein-1_N	ENSG00000138834		0.652	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK8IP3	HGNC	protein_coding	OTTHUMT00000250508.2	39	0.00	0	G	NM_001040439		1756461	1756461	+1	no_errors	ENST00000250894	ensembl	human	known	69_37n	missense	39	13.33	6	SNP	1.000	C
MAPKBP1	23005	genome.wustl.edu	37	15	42115323	42115323	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:42115323C>G	ENST00000456763.2	+	29	3715	c.3519C>G	c.(3517-3519)ctC>ctG	p.L1173L	MAPKBP1_ENST00000221214.6_Silent_p.L1050L|RP11-23P13.4_ENST00000512295.1_RNA|MAPKBP1_ENST00000514566.1_Intron|MAPKBP1_ENST00000457542.2_Silent_p.L1167L|MAPKBP1_ENST00000260357.7_Silent_p.L1006L|RP11-23P13.4_ENST00000510176.1_RNA	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	1173										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GATGCCGTCTCAACCCTGACA	0.647																																						dbGAP											0													29.0	28.0	29.0					15																	42115323		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.3519C>G	15.37:g.42115323C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L1173	ENST00000456763.2	37	c.3519	CCDS45239.1	15																																																																																			MAPKBP1	-	NULL	ENSG00000137802		0.647	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	MAPKBP1	HGNC	protein_coding	OTTHUMT00000359745.1	13	0.00	0	C	NM_014994		42115323	42115323	+1	no_errors	ENST00000456763	ensembl	human	known	69_37n	silent	20	23.08	6	SNP	0.292	G
MAPKBP1	23005	genome.wustl.edu	37	15	42115998	42115998	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:42115998G>A	ENST00000456763.2	+	30	4166	c.3970G>A	c.(3970-3972)Gag>Aag	p.E1324K	MAPKBP1_ENST00000221214.6_Missense_Mutation_p.E1201K|RP11-23P13.4_ENST00000512295.1_RNA|MAPKBP1_ENST00000514566.1_Intron|MAPKBP1_ENST00000457542.2_Missense_Mutation_p.E1318K|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.E1157K|RP11-23P13.4_ENST00000510176.1_RNA	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	1324										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GGCCCCTGGCGAGGCAGAAAA	0.632																																						dbGAP											0													68.0	77.0	74.0					15																	42115998		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.3970G>A	15.37:g.42115998G>A	ENSP00000393099:p.Glu1324Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E1324K	ENST00000456763.2	37	c.3970	CCDS45239.1	15	.	.	.	.	.	.	.	.	.	.	.	11.44	1.640426	0.29157	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000260357;ENST00000456763	T;T;T;T	0.44881	1.1;1.25;0.91;1.15	5.6	4.63	0.57726	.	0.357249	0.29660	N	0.011521	T	0.27313	0.0670	L	0.32530	0.975	0.09310	N	1	B;B;B;D;D	0.56746	0.068;0.176;0.291;0.977;0.964	B;B;B;B;B	0.40636	0.009;0.014;0.017;0.28;0.335	T	0.14727	-1.0462	10	0.15499	T	0.54	-7.4123	9.483	0.38913	0.0747:0.1445:0.7808:0.0	.	1157;1201;1157;1324;1318	F8WC21;O60336-3;B4DYK7;O60336;O60336-6	.;.;.;MABP1_HUMAN;.	K	1318;1201;1157;1324	ENSP00000397570:E1318K;ENSP00000221214:E1201K;ENSP00000260357:E1157K;ENSP00000393099:E1324K	ENSP00000221214:E1201K	E	+	1	0	MAPKBP1	39903290	0.998000	0.40836	0.027000	0.17364	0.116000	0.19942	3.848000	0.55903	2.633000	0.89246	0.591000	0.81541	GAG	MAPKBP1	-	NULL	ENSG00000137802		0.632	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	MAPKBP1	HGNC	protein_coding	OTTHUMT00000359745.1	53	0.00	0	G	NM_014994		42115998	42115998	+1	no_errors	ENST00000456763	ensembl	human	known	69_37n	missense	33	29.79	14	SNP	0.023	A
MAPRE1	22919	genome.wustl.edu	37	20	31421537	31421537	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:31421537C>T	ENST00000375571.5	+	3	275	c.136C>T	c.(136-138)Cag>Tag	p.Q46*		NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN	microtubule-associated protein, RP/EB family, member 1	46	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of microtubule plus-end binding (GO:1903033)|protein localization to microtubule (GO:0035372)	cell projection membrane (GO:0031253)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule plus-end (GO:0035371)	microtubule plus-end binding (GO:0051010)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						TGCGTATTGTCAGTTTATGGA	0.403																																						dbGAP											0													161.0	145.0	150.0					20																	31421537		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U24166	CCDS13208.1	20q11.1-q11.3	2013-01-17			ENSG00000101367	ENSG00000101367			6890	protein-coding gene	gene with protein product	"""adenomatous polyposis coli-binding protein EB1"""	603108				7606712, 9724749, 11470413	Standard	NM_012325		Approved	EB1	uc002wyh.3	Q15691	OTTHUMG00000032228	ENST00000375571.5:c.136C>T	20.37:g.31421537C>T	ENSP00000364721:p.Gln46*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6I7|E1P5M8|Q3KQS8	Nonsense_Mutation	SNP	pfam_EB1_C,pfam_CH-domain,superfamily_CH-domain,pfscan_CH-domain	p.Q46*	ENST00000375571.5	37	c.136	CCDS13208.1	20	.	.	.	.	.	.	.	.	.	.	C	37	6.280049	0.97440	.	.	ENSG00000101367	ENST00000375571	.	.	.	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-2.236	16.8464	0.85982	0.0:1.0:0.0:0.0	.	.	.	.	X	46	.	ENSP00000364721:Q46X	Q	+	1	0	MAPRE1	30885198	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.621000	0.83083	2.278000	0.76064	0.655000	0.94253	CAG	MAPRE1	-	pfam_CH-domain,superfamily_CH-domain,pfscan_CH-domain	ENSG00000101367		0.403	MAPRE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPRE1	HGNC	protein_coding	OTTHUMT00000078647.2	193	0.00	0	C	NM_012325		31421537	31421537	+1	no_errors	ENST00000375571	ensembl	human	known	69_37n	nonsense	237	12.55	34	SNP	1.000	T
MARCH7	64844	genome.wustl.edu	37	2	160604370	160604370	+	Nonsense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:160604370C>G	ENST00000259050.4	+	5	691	c.569C>G	c.(568-570)tCa>tGa	p.S190*	MARCH7_ENST00000409175.1_Nonsense_Mutation_p.S190*|MARCH7_ENST00000409591.1_Nonsense_Mutation_p.S152*|MARCH7_ENST00000473749.1_3'UTR|MARCH7_ENST00000539065.1_Nonsense_Mutation_p.S134*	NM_001282805.1|NM_001282807.1|NM_022826.2	NP_001269734.1|NP_001269736.1|NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	190	Ser-rich.				protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						AAAGAAAACTCAATGAGCACT	0.353																																						dbGAP											0													85.0	84.0	84.0					2																	160604370		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK022973	CCDS2210.1, CCDS63038.1, CCDS63039.1	2q24.2	2013-01-09	2012-02-23	2005-01-27	ENSG00000136536	ENSG00000136536		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	17393	protein-coding gene	gene with protein product		613334	"""axotrophin"", ""membrane-associated ring finger (C3HC4) 7"""	AXOT		14722266	Standard	XM_005246773		Approved	MARCH-VII, RNF177	uc002uax.3	Q9H992	OTTHUMG00000132029	ENST00000259050.4:c.569C>G	2.37:g.160604370C>G	ENSP00000259050:p.Ser190*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9X1|B7Z7P5|D3DPB0|Q53GQ1|Q9BTR9	Nonsense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.S190*	ENST00000259050.4	37	c.569	CCDS2210.1	2	.	.	.	.	.	.	.	.	.	.	C	20.6	4.015343	0.75161	.	.	ENSG00000136536	ENST00000409175;ENST00000539065;ENST00000259050;ENST00000409591	.	.	.	5.87	5.87	0.94306	.	0.414725	0.26887	N	0.021998	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-11.2824	20.2245	0.98337	0.0:1.0:0.0:0.0	.	.	.	.	X	190;134;190;152	.	ENSP00000259050:S190X	S	+	2	0	MARCH7	160312616	1.000000	0.71417	0.938000	0.37757	0.616000	0.37450	5.677000	0.68142	2.770000	0.95276	0.650000	0.86243	TCA	MARCH7	-	NULL	ENSG00000136536		0.353	MARCH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH7	HGNC	protein_coding	OTTHUMT00000255040.3	66	0.00	0	C	NM_022826		160604370	160604370	+1	no_errors	ENST00000259050	ensembl	human	known	69_37n	nonsense	59	22.37	17	SNP	0.996	G
RCOR2	283248	genome.wustl.edu	37	11	63676392	63676392	+	IGR	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:63676392G>C	ENST00000301459.4	-	0	2604				MARK2_ENST00000408948.3_Missense_Mutation_p.E587Q|MARK2_ENST00000361128.5_Missense_Mutation_p.E615Q|MARK2_ENST00000402010.2_Missense_Mutation_p.E684Q|MARK2_ENST00000425897.2_Missense_Mutation_p.E595Q|MARK2_ENST00000513765.2_Missense_Mutation_p.E651Q|MARK2_ENST00000315032.8_Missense_Mutation_p.E675Q|MARK2_ENST00000377810.3_Missense_Mutation_p.E587Q|MARK2_ENST00000508192.1_Missense_Mutation_p.E620Q|MARK2_ENST00000377809.4_Missense_Mutation_p.E669Q|MARK2_ENST00000502399.3_Missense_Mutation_p.E674Q|MARK2_ENST00000413835.2_Missense_Mutation_p.E630Q|MARK2_ENST00000509502.2_Missense_Mutation_p.E641Q|MARK2_ENST00000350490.7_Missense_Mutation_p.E605Q	NM_173587.3	NP_775858.2	Q8IZ40	RCOR2_HUMAN	REST corepressor 2						negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						AGAAAAGGAAGAATTTCGGGA	0.637																																						dbGAP											0													14.0	16.0	15.0					11																	63676392		2199	4297	6496	-	-	-	SO:0001628	intergenic_variant	0			BC010608	CCDS8052.1	11q13.1	2008-02-05			ENSG00000167771	ENSG00000167771			27455	protein-coding gene	gene with protein product						12477932	Standard	NM_173587		Approved		uc001nyc.3	Q8IZ40	OTTHUMG00000150472		11.37:g.63676392G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96FP3	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase-assoc_KA1,superfamily_Kinase-like_dom,superfamily_Kinase-assoc_KA1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom	p.E684Q	ENST00000301459.4	37	c.2050	CCDS8052.1	11	.	.	.	.	.	.	.	.	.	.	G	16.86	3.240336	0.58995	.	.	ENSG00000072518	ENST00000402010;ENST00000315032;ENST00000377809;ENST00000413835;ENST00000377810;ENST00000508192;ENST00000361128;ENST00000350490;ENST00000502399;ENST00000509502;ENST00000513765;ENST00000408948;ENST00000425897	T;T;T;T;T;T;T;T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58	3.89	3.89	0.44902	Kinase-associated KA1 (1);	0.823363	0.10559	N	0.660490	T	0.50086	0.1595	L	0.41492	1.28	0.33001	D	0.526258	B;B;B;B;B;B	0.33826	0.005;0.0;0.427;0.0;0.001;0.004	B;B;B;B;B;B	0.37650	0.006;0.003;0.255;0.001;0.001;0.022	T	0.60337	-0.7283	10	0.45353	T	0.12	.	15.1869	0.73009	0.0:0.0:1.0:0.0	.	595;641;605;615;684;620	E7ETY4;Q7KZI7-14;Q7KZI7-15;Q7KZI7-5;Q7KZI7;Q7KZI7-16	.;.;.;.;MARK2_HUMAN;.	Q	684;675;669;630;587;620;615;605;676;641;651;587;595	ENSP00000385751:E684Q;ENSP00000326632:E675Q;ENSP00000367040:E669Q;ENSP00000389184:E630Q;ENSP00000367041:E587Q;ENSP00000425765:E620Q;ENSP00000355091:E615Q;ENSP00000294247:E605Q;ENSP00000423974:E641Q;ENSP00000421075:E651Q;ENSP00000386128:E587Q;ENSP00000415494:E595Q	ENSP00000326632:E675Q	E	+	1	0	MARK2	63432968	0.991000	0.36638	0.262000	0.24481	0.938000	0.57974	5.111000	0.64628	2.192000	0.70111	0.555000	0.69702	GAA	MARK2	-	superfamily_Kinase-assoc_KA1	ENSG00000072518		0.637	RCOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARK2	HGNC	protein_coding	OTTHUMT00000318233.1	9	0.00	0	G	NM_173587		63676392	63676392	+1	no_errors	ENST00000402010	ensembl	human	known	69_37n	missense	7	61.11	11	SNP	0.893	C
MARK3	4140	genome.wustl.edu	37	14	103932331	103932331	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:103932331G>A	ENST00000429436.2	+	9	1310	c.800G>A	c.(799-801)aGa>aAa	p.R267K	MARK3_ENST00000553942.1_Missense_Mutation_p.R267K|MARK3_ENST00000303622.9_Missense_Mutation_p.R267K|MARK3_ENST00000335102.5_Missense_Mutation_p.R290K|MARK3_ENST00000561071.1_Intron|MARK3_ENST00000416682.2_Missense_Mutation_p.R290K|MARK3_ENST00000216288.7_Missense_Mutation_p.R267K|MARK3_ENST00000440884.3_Missense_Mutation_p.R188K	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	267	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			AGAGTATTAAGAGGGAAATAC	0.403																																						dbGAP											0													88.0	85.0	86.0					14																	103932331		1842	4086	5928	-	-	-	SO:0001583	missense	0			M80359	CCDS41993.1, CCDS45165.1, CCDS45166.1, CCDS45167.1, CCDS55947.1	14q32.32	2014-04-07			ENSG00000075413	ENSG00000075413			6897	protein-coding gene	gene with protein product		602678				9533022	Standard	NM_002376		Approved	CTAK1, KP78, PAR-1A	uc001ymz.4	P27448	OTTHUMG00000171789	ENST00000429436.2:c.800G>A	14.37:g.103932331G>A	ENSP00000411397:p.Arg267Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O60219|Q86TT8|Q8TB41|Q8WX83|Q96RG1|Q9UMY9|Q9UN34	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase-assoc_KA1,superfamily_Kinase-like_dom,superfamily_Kinase-assoc_KA1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R267K	ENST00000429436.2	37	c.800	CCDS45165.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.466911|5.466911	0.96257|0.96257	.|.	.|.	ENSG00000075413|ENSG00000075413	ENST00000554627|ENST00000335102;ENST00000440884;ENST00000416682;ENST00000429436;ENST00000303622;ENST00000216288;ENST00000553942	.|T;T;T;T;T;T;T	.|0.64438	.|-0.1;3.2;-0.1;-0.1;-0.1;-0.1;-0.1	5.9|5.9	5.9|5.9	0.94986|0.94986	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.68174|0.68174	0.2972|0.2972	N|N	0.12920|0.12920	0.275|0.275	0.80722|0.80722	D|D	1|1	.|P;P;P;B;P;D;B	.|0.63880	.|0.659;0.475;0.57;0.064;0.568;0.993;0.112	.|P;B;P;B;P;D;B	.|0.78314	.|0.493;0.413;0.485;0.148;0.658;0.991;0.141	T|T	0.71862|0.71862	-0.4464|-0.4464	5|10	.|0.56958	.|D	.|0.05	.|.	20.2789|20.2789	0.98501|0.98501	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|290;290;267;267;188;267;267	.|P27448-7;P27448-2;P27448-6;P27448;Q86TT8;P27448-4;P27448-3	.|.;.;.;MARK3_HUMAN;.;.;.	K|K	35|290;188;290;267;267;267;267	.|ENSP00000335347:R290K;ENSP00000402104:R188K;ENSP00000408092:R290K;ENSP00000411397:R267K;ENSP00000303698:R267K;ENSP00000216288:R267K;ENSP00000450772:R267K	.|ENSP00000216288:R267K	E|R	+|+	1|2	0|0	MARK3|MARK3	103002084|103002084	1.000000|1.000000	0.71417|0.71417	0.962000|0.962000	0.40283|0.40283	0.990000|0.990000	0.78478|0.78478	9.709000|9.709000	0.98729|0.98729	2.788000|2.788000	0.95919|0.95919	0.650000|0.650000	0.86243|0.86243	GAG|AGA	MARK3	-	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	ENSG00000075413		0.403	MARK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARK3	HGNC	protein_coding	OTTHUMT00000415144.1	67	0.00	0	G	NM_001128918		103932331	103932331	+1	no_errors	ENST00000429436	ensembl	human	known	69_37n	missense	36	40.00	24	SNP	1.000	A
MARS	4141	genome.wustl.edu	37	12	57881979	57881979	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:57881979G>C	ENST00000262027.5	+	1	240	c.106G>C	c.(106-108)Gaa>Caa	p.E36Q	MARS_ENST00000315473.5_5'UTR|MARS_ENST00000447721.2_3'UTR|ARHGAP9_ENST00000550288.1_Intron|ARHGAP9_ENST00000393797.2_Intron	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	36					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)	TGTAGGCCCGGAAGGTACTCG	0.667																																						dbGAP											0													50.0	55.0	53.0					12																	57881979		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.106G>C	12.37:g.57881979G>C	ENSP00000262027:p.Glu36Gln	Somatic		WXS	Illumina GAIIx	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.E36Q	ENST00000262027.5	37	c.106	CCDS8942.1	12	.	.	.	.	.	.	.	.	.	.	G	16.30	3.084896	0.55861	.	.	ENSG00000166986	ENST00000262027	T	0.77620	-1.11	4.29	4.29	0.51040	.	0.169189	0.39341	N	0.001397	T	0.72439	0.3460	L	0.34521	1.04	0.80722	D	1	P;P	0.49961	0.849;0.93	B;P	0.47981	0.378;0.563	T	0.70019	-0.4987	10	0.24483	T	0.36	-13.0681	15.0313	0.71708	0.0:0.0:1.0:0.0	.	36;36	B4E0E9;P56192	.;SYMC_HUMAN	Q	36	ENSP00000262027:E36Q	ENSP00000262027:E36Q	E	+	1	0	MARS	56168246	1.000000	0.71417	0.937000	0.37676	0.145000	0.21501	4.788000	0.62439	2.333000	0.79357	0.484000	0.47621	GAA	MARS	-	superfamily_Thioredoxin-like_fold	ENSG00000166986		0.667	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MARS	HGNC	protein_coding	OTTHUMT00000407014.1	17	0.00	0	G	NM_004990		57881979	57881979	+1	no_errors	ENST00000262027	ensembl	human	known	69_37n	missense	15	30.43	7	SNP	0.982	C
MARS	4141	genome.wustl.edu	37	12	57884027	57884027	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:57884027G>A	ENST00000262027.5	+	6	662	c.528G>A	c.(526-528)ctG>ctA	p.L176L	MARS_ENST00000315473.5_5'UTR|MARS_ENST00000447721.2_3'UTR|ARHGAP9_ENST00000550288.1_5'Flank|ARHGAP9_ENST00000393797.2_5'Flank	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	176	GST C-terminal.				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)	TCCAGACACTGAGTACCCAGG	0.562																																						dbGAP											0													152.0	164.0	160.0					12																	57884027		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			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.528G>A	12.37:g.57884027G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Missense_Mutation	SNP	superfamily_Thioredoxin-like_fold	p.E80K	ENST00000262027.5	37	c.238	CCDS8942.1	12																																																																																			MARS	-	NULL	ENSG00000166986		0.562	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MARS	HGNC	protein_coding	OTTHUMT00000407014.1	54	0.00	0	G	NM_004990		57884027	57884027	+1	no_errors	ENST00000549074	ensembl	human	known	69_37n	missense	84	18.45	19	SNP	0.987	A
MARS	4141	genome.wustl.edu	37	12	57908614	57908614	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:57908614C>G	ENST00000262027.5	+	16	2213	c.2079C>G	c.(2077-2079)caC>caG	p.H693Q	RN7SL312P_ENST00000582079.1_RNA|MARS_ENST00000315473.5_Missense_Mutation_p.H459Q	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	693					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)	AGCACTATCACCAGCTACTTG	0.512																																						dbGAP											0													192.0	191.0	191.0					12																	57908614		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.2079C>G	12.37:g.57908614C>G	ENSP00000262027:p.His693Gln	Somatic		WXS	Illumina GAIIx	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.H693Q	ENST00000262027.5	37	c.2079	CCDS8942.1	12	.	.	.	.	.	.	.	.	.	.	C	12.88	2.069812	0.36566	.	.	ENSG00000166986	ENST00000262027;ENST00000315473;ENST00000552914	T;T;T	0.41400	1.0;1.0;1.0	5.55	3.68	0.42216	Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.107611	0.64402	D	0.000010	T	0.28665	0.0710	L	0.34521	1.04	0.39844	D	0.973145	B;B	0.12630	0.006;0.003	B;B	0.06405	0.002;0.001	T	0.09357	-1.0678	10	0.13853	T	0.58	-23.0595	11.2634	0.49095	0.0:0.8459:0.0:0.1541	.	459;693	A6NC17;P56192	.;SYMC_HUMAN	Q	693;459;49	ENSP00000262027:H693Q;ENSP00000314653:H459Q;ENSP00000449787:H49Q	ENSP00000262027:H693Q	H	+	3	2	MARS	56194881	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.858000	0.48356	1.452000	0.47756	0.591000	0.81541	CAC	MARS	-	superfamily_tRNAsynth_1a_anticodon-bd,tigrfam_Met-tRNA_synth	ENSG00000166986		0.512	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MARS	HGNC	protein_coding	OTTHUMT00000407014.1	90	0.00	0	C	NM_004990		57908614	57908614	+1	no_errors	ENST00000262027	ensembl	human	known	69_37n	missense	108	14.29	18	SNP	1.000	G
MAS1L	116511	genome.wustl.edu	37	6	29454997	29454997	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:29454997G>C	ENST00000377127.3	-	1	741	c.683C>G	c.(682-684)tCt>tGt	p.S228C		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	228					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						GAAGAGCCCAGAAAGCTTTAG	0.448																																					NSCLC(153;755 1987 3859 11251 32945)	dbGAP											0													49.0	50.0	50.0					6																	29454997		2203	4300	6503	-	-	-	SO:0001583	missense	0			S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"""GPCR / Class A : Orphans"""	13961	protein-coding gene	gene with protein product		607235	"""MAS1 oncogene-like"""				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.683C>G	6.37:g.29454997G>C	ENSP00000366331:p.Ser228Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5SUN5	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	p.S228C	ENST00000377127.3	37	c.683	CCDS4661.1	6	.	.	.	.	.	.	.	.	.	.	G	6.961	0.547266	0.13312	.	.	ENSG00000204687	ENST00000377127	T	0.38240	1.15	1.63	-3.25	0.05079	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.21387	0.0515	L	0.32530	0.975	0.09310	N	1	D	0.61697	0.99	D	0.71656	0.974	T	0.06267	-1.0836	9	0.35671	T	0.21	.	4.5985	0.12341	0.2865:0.2102:0.5033:0.0	.	228	P35410	MAS1L_HUMAN	C	228	ENSP00000366331:S228C	ENSP00000366331:S228C	S	-	2	0	MAS1L	29562976	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	1.047000	0.30367	-0.730000	0.04869	-0.952000	0.02654	TCT	MAS1L	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000204687		0.448	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAS1L	HGNC	protein_coding	OTTHUMT00000076126.2	15	0.00	0	G	NM_052967		29454997	29454997	-1	no_errors	ENST00000377127	ensembl	human	known	69_37n	missense	12	29.41	5	SNP	0.000	C
MASP1	5648	genome.wustl.edu	37	3	186954135	186954135	+	Intron	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:186954135C>A	ENST00000337774.5	-	10	1693				MASP1_ENST00000392472.2_Silent_p.V395V|MASP1_ENST00000495249.1_5'UTR|MASP1_ENST00000296280.6_Silent_p.V508V	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)						complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		AGACTGGTATCACCGTGGTGT	0.592																																						dbGAP											0													103.0	90.0	94.0					3																	186954135		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"""Serine peptidases / Serine peptidases"""	6901	protein-coding gene	gene with protein product		600521	"""mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"""	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.1303+5133G>T	3.37:g.186954135C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Silent	SNP	pfam_Peptidase_S1_S6,pfam_CUB,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_CUB,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6	p.V508	ENST00000337774.5	37	c.1524	CCDS33907.1	3																																																																																			MASP1	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000127241		0.592	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MASP1	HGNC	protein_coding	OTTHUMT00000344262.1	47	0.00	0	C	NM_001879		186954135	186954135	-1	no_errors	ENST00000296280	ensembl	human	known	69_37n	silent	70	21.11	19	SNP	1.000	A
MAST1	22983	genome.wustl.edu	37	19	12975948	12975948	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:12975948G>T	ENST00000251472.4	+	14	1633	c.1594G>T	c.(1594-1596)Gaa>Taa	p.E532*		NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CAACTTATATGAAGGCCACAT	0.582																																						dbGAP											0													102.0	91.0	95.0					19																	12975948		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.1594G>T	19.37:g.12975948G>T	ENSP00000251472:p.Glu532*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.E532*	ENST00000251472.4	37	c.1594	CCDS32921.1	19	.	.	.	.	.	.	.	.	.	.	G	37	6.555990	0.97663	.	.	ENSG00000105613	ENST00000251472;ENST00000542153	.	.	.	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-19.2401	15.6856	0.77409	0.0:0.0:1.0:0.0	.	.	.	.	X	532	.	ENSP00000251472:E532X	E	+	1	0	MAST1	12836948	1.000000	0.71417	0.874000	0.34290	0.549000	0.35272	9.869000	0.99810	2.396000	0.81511	0.561000	0.74099	GAA	MAST1	-	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	ENSG00000105613		0.582	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST1	HGNC	protein_coding	OTTHUMT00000451733.2	55	0.00	0	G	NM_014975		12975948	12975948	+1	no_errors	ENST00000251472	ensembl	human	known	69_37n	nonsense	65	20.73	17	SNP	1.000	T
MAST1	22983	genome.wustl.edu	37	19	12976805	12976805	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:12976805G>A	ENST00000251472.4	+	17	1957	c.1918G>A	c.(1918-1920)Gag>Aag	p.E640K		NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CGGCGCTTTTGAGGTGAAGCA	0.632																																						dbGAP											0													59.0	59.0	59.0					19																	12976805		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.1918G>A	19.37:g.12976805G>A	ENSP00000251472:p.Glu640Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.E640K	ENST00000251472.4	37	c.1918	CCDS32921.1	19	.	.	.	.	.	.	.	.	.	.	G	27.1	4.801567	0.90538	.	.	ENSG00000105613	ENST00000251472;ENST00000542153	T	0.29397	1.57	5.07	4.04	0.47022	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.125982	0.51477	D	0.000088	T	0.50463	0.1617	M	0.63169	1.94	0.58432	D	0.999991	D	0.89917	1.0	D	0.91635	0.999	T	0.52888	-0.8515	10	0.87932	D	0	-14.1896	11.4894	0.50373	0.0888:0.0:0.9112:0.0	.	640	Q9Y2H9	MAST1_HUMAN	K	640	ENSP00000251472:E640K	ENSP00000251472:E640K	E	+	1	0	MAST1	12837805	1.000000	0.71417	1.000000	0.80357	0.688000	0.40055	9.828000	0.99408	1.278000	0.44430	0.563000	0.77884	GAG	MAST1	-	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	ENSG00000105613		0.632	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST1	HGNC	protein_coding	OTTHUMT00000451733.2	69	0.00	0	G	NM_014975		12976805	12976805	+1	no_errors	ENST00000251472	ensembl	human	known	69_37n	missense	39	25.93	14	SNP	1.000	A
MAST3	23031	genome.wustl.edu	37	19	18245683	18245683	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:18245683G>A	ENST00000262811.6	+	16	1674	c.1674G>A	c.(1672-1674)ggG>ggA	p.G558G		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	558	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						AGGGCTATGGGAAGCCAGTGG	0.632																																						dbGAP											0													89.0	95.0	93.0					19																	18245683		2041	4210	6251	-	-	-	SO:0001819	synonymous_variant	0			AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.1674G>A	19.37:g.18245683G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q7LDZ8|Q9UPI0	Silent	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.G558	ENST00000262811.6	37	c.1674	CCDS46014.1	19																																																																																			MAST3	-	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	ENSG00000099308		0.632	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST3	HGNC	protein_coding	OTTHUMT00000466526.2	113	0.00	0	G	XM_038150		18245683	18245683	+1	no_errors	ENST00000262811	ensembl	human	known	69_37n	silent	94	21.01	25	SNP	0.994	A
MAST3	23031	genome.wustl.edu	37	19	18249895	18249895	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:18249895G>C	ENST00000262811.6	+	19	2079	c.2079G>C	c.(2077-2079)gaG>gaC	p.E693D		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	693	AGC-kinase C-terminal.						ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						CGTCCACAGAGATCCCCCAGT	0.592																																						dbGAP											0													66.0	71.0	69.0					19																	18249895		2006	4193	6199	-	-	-	SO:0001583	missense	0			AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.2079G>C	19.37:g.18249895G>C	ENSP00000262811:p.Glu693Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7LDZ8|Q9UPI0	Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.E693D	ENST00000262811.6	37	c.2079	CCDS46014.1	19	.	.	.	.	.	.	.	.	.	.	G	13.28	2.189481	0.38707	.	.	ENSG00000099308	ENST00000262811	T	0.24151	1.87	4.11	1.51	0.23008	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.24122	0.0584	M	0.64630	1.985	0.40041	D	0.975655	B	0.23650	0.089	B	0.32289	0.143	T	0.04900	-1.0919	10	0.28530	T	0.3	-28.4814	6.2609	0.20899	0.3954:0.0:0.6046:0.0	.	693	O60307	MAST3_HUMAN	D	693	ENSP00000262811:E693D	ENSP00000262811:E693D	E	+	3	2	MAST3	18110895	0.990000	0.36364	0.995000	0.50966	0.869000	0.49853	0.235000	0.17948	0.864000	0.35578	0.491000	0.48974	GAG	MAST3	-	superfamily_Kinase-like_dom	ENSG00000099308		0.592	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST3	HGNC	protein_coding	OTTHUMT00000466526.2	62	0.00	0	G	XM_038150		18249895	18249895	+1	no_errors	ENST00000262811	ensembl	human	known	69_37n	missense	43	29.51	18	SNP	1.000	C
MAST4	375449	genome.wustl.edu	37	5	66400326	66400326	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:66400326G>C	ENST00000403625.2	+	10	1574	c.1279G>C	c.(1279-1281)Gat>Cat	p.D427H	MAST4_ENST00000490016.2_Missense_Mutation_p.D238H|MAST4_ENST00000403666.1_Missense_Mutation_p.D238H|MAST4_ENST00000404260.3_Missense_Mutation_p.D430H|MAST4_ENST00000261569.7_Missense_Mutation_p.D233H|MAST4_ENST00000405643.1_Missense_Mutation_p.D248H	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	430						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AGATTGCTTGGATAAATCCCA	0.433																																						dbGAP											0													93.0	89.0	91.0					5																	66400326		1905	4119	6024	-	-	-	SO:0001583	missense	0			AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.1279G>C	5.37:g.66400326G>C	ENSP00000385727:p.Asp427His	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.D430H	ENST00000403625.2	37	c.1288	CCDS54861.1	5	.	.	.	.	.	.	.	.	.	.	G	20.7	4.037089	0.75617	.	.	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000490016;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569;ENST00000432399	T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51	5.91	5.91	0.95273	Microtubule-associated serine/threonine-protein kinase, domain (1);Microtubule-associated serine/threonine-protein kinase, pre-PK domain (2);	0.148261	0.43260	U	0.000583	T	0.50086	0.1595	L	0.41356	1.27	0.40248	D	0.97803	D;D;D;D;P	0.89917	0.997;1.0;1.0;0.993;0.953	D;D;D;D;P	0.77557	0.968;0.99;0.987;0.946;0.657	T	0.41215	-0.9521	10	0.52906	T	0.07	-15.7291	20.2946	0.98546	0.0:0.0:1.0:0.0	.	248;430;233;238;238	E7EWQ5;O15021;O15021-2;O15021-3;D6RAK1	.;MAST4_HUMAN;.;.;.	H	430;427;238;238;248;248;233;233	ENSP00000385048:D430H;ENSP00000385727:D427H;ENSP00000421739:D238H;ENSP00000384313:D238H;ENSP00000384099:D248H;ENSP00000261569:D233H	ENSP00000261569:D233H	D	+	1	0	MAST4	66436082	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.968000	0.87980	2.804000	0.96469	0.462000	0.41574	GAT	MAST4	-	pfam_MA_Ser/Thr_Kinase_dom,superfamily_MAST_pre-PK_dom	ENSG00000069020		0.433	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	MAST4	HGNC	protein_coding	OTTHUMT00000326324.2	95	0.00	0	G			66400326	66400326	+1	no_errors	ENST00000404260	ensembl	human	known	69_37n	missense	60	31.03	27	SNP	1.000	C
MAT2A	4144	genome.wustl.edu	37	2	85768229	85768229	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:85768229G>C	ENST00000306434.3	+	2	238	c.115G>C	c.(115-117)Gat>Cat	p.D39H	MAT2A_ENST00000409017.1_5'UTR	NM_005911.5	NP_005902.1	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha	39					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)	CCAAATCAGTGATGCTGTCCT	0.408																																						dbGAP											0													105.0	110.0	108.0					2																	85768229		2203	4300	6503	-	-	-	SO:0001583	missense	0				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.115G>C	2.37:g.85768229G>C	ENSP00000303147:p.Asp39His	Somatic		WXS	Illumina GAIIx	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.D39H	ENST00000306434.3	37	c.115	CCDS1977.1	2	.	.	.	.	.	.	.	.	.	.	G	22.9	4.350508	0.82132	.	.	ENSG00000168906	ENST00000306434	D	0.95756	-3.8	5.69	5.69	0.88448	S-adenosylmethionine synthetase, N-terminal (1);S-adenosylmethionine synthetase superfamily (1);	0.000000	0.85682	D	0.000000	D	0.98931	0.9637	H	0.99535	4.615	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99107	1.0845	10	0.87932	D	0	-18.2527	17.6702	0.88214	0.0:0.0:1.0:0.0	.	39	P31153	METK2_HUMAN	H	39	ENSP00000303147:D39H	ENSP00000303147:D39H	D	+	1	0	MAT2A	85621740	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.632000	0.83247	2.840000	0.97914	0.655000	0.94253	GAT	MAT2A	-	pfam_S-AdoMet_synt_N,superfamily_S-AdoMet_synthetase_sfam,pirsf_S-AdoMet_synthetase,tigrfam_S-AdoMet_synthetase	ENSG00000168906		0.408	MAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAT2A	HGNC	protein_coding	OTTHUMT00000252491.2	107	0.93	1	G	NM_005911		85768229	85768229	+1	no_errors	ENST00000306434	ensembl	human	known	69_37n	missense	69	40.52	47	SNP	1.000	C
MAZ	4150	genome.wustl.edu	37	16	29820003	29820003	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:29820003C>G	ENST00000322945.6	+	4	1385	c.1220C>G	c.(1219-1221)tCg>tGg	p.S407W	MAZ_ENST00000568282.1_Missense_Mutation_p.S8W|MAZ_ENST00000563402.1_Intron|MAZ_ENST00000219782.6_Missense_Mutation_p.S407W|MAZ_ENST00000562337.1_Missense_Mutation_p.S102W|MAZ_ENST00000569978.1_Missense_Mutation_p.S8W|AC009133.15_ENST00000566537.1_RNA|MAZ_ENST00000566906.2_Intron|AC009133.14_ENST00000563806.1_RNA|AC009133.20_ENST00000569039.1_RNA|MAZ_ENST00000545521.1_Missense_Mutation_p.S384W|AC009133.14_ENST00000569981.1_RNA|MAZ_ENST00000568544.1_Missense_Mutation_p.S8W	NM_002383.2	NP_002374.2	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)	407					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|termination of RNA polymerase II transcription (GO:0006369)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						GCTTATATTTCGGACCACATG	0.597																																					Colon(72;875 1167 15364 30899 37091)	dbGAP											0													45.0	49.0	47.0					16																	29820003		2145	4252	6397	-	-	-	SO:0001583	missense	0			M93339	CCDS42143.1, CCDS42144.1, CCDS61902.1, CCDS61903.1	16p11.2	2013-01-08			ENSG00000103495	ENSG00000103495		"""Zinc fingers, C2H2-type"""	6914	protein-coding gene	gene with protein product		600999				1567856, 1502157	Standard	NM_001276275		Approved	ZF87, Pur-1, Zif87, ZNF801	uc002dtx.4	P56270	OTTHUMG00000132119	ENST00000322945.6:c.1220C>G	16.37:g.29820003C>G	ENSP00000313362:p.Ser407Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8QJL9|C6G496|G5E927|H3BQD6|Q15703|Q8NFN7|Q99443	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S407W	ENST00000322945.6	37	c.1220	CCDS42143.1	16	.	.	.	.	.	.	.	.	.	.	C	19.36	3.812518	0.70912	.	.	ENSG00000103495	ENST00000545521;ENST00000322945;ENST00000219782;ENST00000544343	T;T;T	0.15718	2.4;2.4;2.98	5.3	5.3	0.74995	Zinc finger, C2H2-like (1);	0.067864	0.56097	D	0.000028	T	0.40546	0.1121	M	0.63843	1.955	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;D;D;D	0.76071	0.972;0.984;0.963;0.987	T	0.12167	-1.0558	10	0.66056	D	0.02	-4.0402	16.8298	0.85941	0.0:1.0:0.0:0.0	.	384;182;407;407	C6G496;F5H7A6;P56270;G5E927	.;.;MAZ_HUMAN;.	W	384;407;407;182	ENSP00000443956:S384W;ENSP00000313362:S407W;ENSP00000219782:S407W	ENSP00000219782:S407W	S	+	2	0	MAZ	29727504	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.707000	0.68370	2.648000	0.89879	0.655000	0.94253	TCG	MAZ	-	smart_Znf_C2H2-like	ENSG00000103495		0.597	MAZ-001	KNOWN	basic|CCDS	protein_coding	MAZ	HGNC	protein_coding	OTTHUMT00000435536.1	24	0.00	0	C	NM_002383		29820003	29820003	+1	no_errors	ENST00000219782	ensembl	human	known	69_37n	missense	24	33.33	12	SNP	1.000	G
MB21D2	151963	genome.wustl.edu	37	3	192635513	192635513	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:192635513G>A	ENST00000392452.2	-	1	437	c.117C>T	c.(115-117)ctC>ctT	p.L39L		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	39							protein complex binding (GO:0032403)			endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						ATTCTTGGATGAGTTTGTTCA	0.547																																						dbGAP											0													135.0	114.0	121.0					3																	192635513		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			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.117C>T	3.37:g.192635513G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86VD8	Silent	SNP	pfam_Mab-21_dom	p.L39	ENST00000392452.2	37	c.117	CCDS3302.2	3																																																																																			MB21D2	-	NULL	ENSG00000180611		0.547	MB21D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MB21D2	HGNC	protein_coding	OTTHUMT00000341543.1	74	0.00	0	G	NM_178496		192635513	192635513	-1	no_errors	ENST00000392452	ensembl	human	known	69_37n	silent	76	17.39	16	SNP	1.000	A
MBD3	53615	genome.wustl.edu	37	19	1581238	1581238	+	Missense_Mutation	SNP	A	A	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:1581238A>T	ENST00000434436.3	-	5	659	c.530T>A	c.(529-531)cTg>cAg	p.L177Q	MBD3_ENST00000590550.2_Missense_Mutation_p.L121Q|MBD3_ENST00000156825.1_Missense_Mutation_p.L177Q|UQCR11_ENST00000585937.1_3'UTR|AC005943.4_ENST00000592406.1_RNA|MBD3_ENST00000592012.1_Missense_Mutation_p.L145Q|MBD3_ENST00000585967.1_5'UTR	NM_001281453.1	NP_001268382.1	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	177					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)		GGCCGACAGCAGCGTCTCATC	0.667																																						dbGAP											0													53.0	45.0	47.0					19																	1581238		2203	4299	6502	-	-	-	SO:0001583	missense	0			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.530T>A	19.37:g.1581238A>T	ENSP00000412302:p.Leu177Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4B7|D6W5Z2|Q6PIL9|Q6PJZ9|Q86XF4	Missense_Mutation	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.L177Q	ENST00000434436.3	37	c.530	CCDS12072.1	19	.	.	.	.	.	.	.	.	.	.	A	17.42	3.384701	0.61845	.	.	ENSG00000071655	ENST00000434436;ENST00000156825	D	0.98947	-5.26	4.96	3.91	0.45181	.	0.000000	0.85682	D	0.000000	D	0.98994	0.9657	M	0.85373	2.75	0.58432	D	0.999993	P;D	0.89917	0.879;1.0	B;D	0.97110	0.408;1.0	D	0.99191	1.0870	10	0.66056	D	0.02	-30.5134	10.8493	0.46761	0.8414:0.1586:0.0:0.0	.	145;177	O95983-2;O95983	.;MBD3_HUMAN	Q	145;177	ENSP00000156825:L177Q	ENSP00000156825:L177Q	L	-	2	0	MBD3	1532238	1.000000	0.71417	0.999000	0.59377	0.592000	0.36648	9.153000	0.94687	0.692000	0.31613	0.379000	0.24179	CTG	MBD3	-	NULL	ENSG00000071655		0.667	MBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD3	HGNC	protein_coding	OTTHUMT00000449658.2	35	0.00	0	A	NM_003926		1581238	1581238	-1	no_errors	ENST00000156825	ensembl	human	known	69_37n	missense	15	37.50	9	SNP	1.000	T
MBLAC2	153364	genome.wustl.edu	37	5	89757000	89757000	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:89757000G>A	ENST00000316610.6	-	2	1299	c.824C>T	c.(823-825)tCt>tTt	p.S275F		NM_203406.1	NP_981951	Q68D91	MBLC2_HUMAN	metallo-beta-lactamase domain containing 2	275						extracellular vesicular exosome (GO:0070062)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			kidney(1)|liver(1)|lung(3)	5						CGAGGTCCTAGAATTTGTTAC	0.323																																						dbGAP											0													35.0	35.0	35.0					5																	89757000		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC038230	CCDS4067.1	5q14.3	2009-04-08	2009-04-08		ENSG00000176055	ENSG00000176055			33711	protein-coding gene	gene with protein product							Standard	NM_203406		Approved	DKFZp686P15118, MGC46734	uc003kjp.3	Q68D91	OTTHUMG00000131327	ENST00000316610.6:c.824C>T	5.37:g.89757000G>A	ENSP00000314776:p.Ser275Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	D6RJI1|Q8IY16|Q8N8D8	Missense_Mutation	SNP	pfam_Beta-lactamas-like,smart_Beta-lactamas-like	p.S275F	ENST00000316610.6	37	c.824	CCDS4067.1	5	.	.	.	.	.	.	.	.	.	.	G	21.6	4.177662	0.78564	.	.	ENSG00000176055;ENSG00000259131;ENSG00000259131	ENST00000316610;ENST00000556122;ENST00000546270	T	0.74737	-0.87	6.08	6.08	0.98989	.	0.108915	0.64402	D	0.000003	T	0.69958	0.3169	L	0.32530	0.975	0.80722	D	1	P	0.46277	0.875	B	0.41571	0.36	T	0.73600	-0.3931	10	0.87932	D	0	-50.4895	20.6634	0.99662	0.0:0.0:1.0:0.0	.	275	Q68D91	MBLC2_HUMAN	F	275;275;205	ENSP00000314776:S275F	ENSP00000314776:S275F	S	-	2	0	AC093510.2;MBLAC2	89792756	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.785000	0.75089	2.894000	0.99253	0.655000	0.94253	TCT	MBLAC2	-	NULL	ENSG00000176055		0.323	MBLAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBLAC2	HGNC	protein_coding	OTTHUMT00000254098.2	28	0.00	0	G	NM_203406		89757000	89757000	-1	no_errors	ENST00000316610	ensembl	human	known	69_37n	missense	31	17.95	7	SNP	1.000	A
MBOAT4	619373	genome.wustl.edu	37	8	30002006	30002006	+	Missense_Mutation	SNP	G	G	C	rs142233645		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:30002006G>C	ENST00000320542.3	-	1	196	c.112C>G	c.(112-114)Cgt>Ggt	p.R38G		NM_001100916.1	NP_001094386.1	Q96T53	MBOA4_HUMAN	membrane bound O-acyltransferase domain containing 4	38					cellular protein metabolic process (GO:0044267)|peptidyl-serine octanoylation (GO:0018191)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	serine O-acyltransferase activity (GO:0016412)			endometrium(1)	1						TACCTGGCACGAGTGGAGAAT	0.473																																						dbGAP											0													101.0	90.0	93.0					8																	30002006		692	1591	2283	-	-	-	SO:0001583	missense	0			AF359269	CCDS47835.1	8p12	2008-08-04	2006-06-29	2006-06-29	ENSG00000177669	ENSG00000177669			32311	protein-coding gene	gene with protein product	"""ghrelin O-acyltransferase"""	611940	"""O-acyltransferase (membrane bound) domain containing 4"""	OACT4		18443287	Standard	NM_001100916		Approved	FKSG89, GOAT	uc010lvg.3	Q96T53	OTTHUMG00000163824	ENST00000320542.3:c.112C>G	8.37:g.30002006G>C	ENSP00000314196:p.Arg38Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B1Q003	Missense_Mutation	SNP	pfam_MBOAT_fam	p.R38G	ENST00000320542.3	37	c.112	CCDS47835.1	8	.	.	.	.	.	.	.	.	.	.	G	0.928	-0.713775	0.03206	.	.	ENSG00000177669	ENST00000320542	T	0.23348	1.91	4.97	0.662	0.17880	.	.	.	.	.	T	0.14227	0.0344	N	0.24115	0.695	0.09310	N	1	B	0.15473	0.013	B	0.15484	0.013	T	0.32025	-0.9922	8	.	.	.	.	5.9311	0.19140	0.0936:0.0:0.385:0.5214	.	38	Q96T53	MBOA4_HUMAN	G	38	ENSP00000314196:R38G	.	R	-	1	0	MBOAT4	30121548	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	0.652000	0.24888	0.254000	0.21573	-0.253000	0.11424	CGT	MBOAT4	-	NULL	ENSG00000177669		0.473	MBOAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBOAT4	HGNC	protein_coding	OTTHUMT00000375795.1	45	0.00	0	G			30002006	30002006	-1	no_errors	ENST00000320542	ensembl	human	known	69_37n	missense	9	65.38	17	SNP	0.000	C
MBTPS2	51360	genome.wustl.edu	37	X	21871566	21871566	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:21871566C>T	ENST00000379484.5	+	5	714	c.615C>T	c.(613-615)ttC>ttT	p.F205F	MBTPS2_ENST00000465888.1_3'UTR|YY2_ENST00000429584.2_5'Flank|MBTPS2_ENST00000365779.2_Silent_p.F205F	NM_015884.3	NP_056968.1	O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	205					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						TTGATCTGTTCACCACTCATT	0.348																																						dbGAP											0													169.0	160.0	163.0					X																	21871566		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF019612	CCDS14201.1	Xp22.12-p22.11	2014-02-03	2005-08-17		ENSG00000012174	ENSG00000012174			15455	protein-coding gene	gene with protein product		300294	"""membrane-bound transcription factor protease, site 2"", ""keratosis follicularis spinulosa decalvans"""	KFSD		9847074, 9659902, 20672378	Standard	NM_015884		Approved	S2P	uc004dae.3	O43462	OTTHUMG00000021237	ENST00000379484.5:c.615C>T	X.37:g.21871566C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UM70|Q9UMD3	Silent	SNP	pfam_Peptidase_M50,superfamily_PDZ,prints_Pept_M50_SREBP	p.F205	ENST00000379484.5	37	c.615	CCDS14201.1	X																																																																																			MBTPS2	-	pfam_Peptidase_M50,prints_Pept_M50_SREBP	ENSG00000012174		0.348	MBTPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBTPS2	HGNC	protein_coding	OTTHUMT00000056026.1	273	0.00	0	C			21871566	21871566	+1	no_errors	ENST00000379484	ensembl	human	known	69_37n	silent	254	19.87	63	SNP	1.000	T
MC3R	4159	genome.wustl.edu	37	20	54824026	54824026	+	Missense_Mutation	SNP	G	G	A	rs375750359		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:54824026G>A	ENST00000243911.2	+	1	239	c.127G>A	c.(127-129)Gag>Aag	p.E43K		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	43					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CATCAAGCCCGAGGTTTTCCT	0.557																																						dbGAP											0													113.0	101.0	105.0					20																	54824026		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"""GPCR / Class A : Melanocortin receptors"""	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.127G>A	20.37:g.54824026G>A	ENSP00000243911:p.Glu43Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4KN27|Q9H517	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Melcrt_ACTH_rcpt,prints_Mcort_3_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Melancort_rcpt	p.E43K	ENST00000243911.2	37	c.127	CCDS13449.2	20	.	.	.	.	.	.	.	.	.	.	G	22.3	4.274981	0.80580	.	.	ENSG00000124089	ENST00000243911	T	0.36878	1.23	5.01	5.01	0.66863	.	0.076618	0.49305	D	0.000144	T	0.22820	0.0551	N	0.08118	0	0.54753	D	0.999984	P	0.52842	0.956	B	0.40636	0.335	T	0.11767	-1.0574	10	0.46703	T	0.11	.	17.9343	0.89008	0.0:0.0:1.0:0.0	.	80	P41968	MC3R_HUMAN	K	43	ENSP00000243911:E43K	ENSP00000243911:E43K	E	+	1	0	MC3R	54257433	1.000000	0.71417	0.939000	0.37840	0.920000	0.55202	6.479000	0.73600	2.317000	0.78254	0.650000	0.86243	GAG	MC3R	-	prints_7TM_GPCR_Rhodpsn	ENSG00000124089		0.557	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MC3R	HGNC	protein_coding	OTTHUMT00000079786.2	55	0.00	0	G			54824026	54824026	+1	no_errors	ENST00000243911	ensembl	human	known	69_37n	missense	70	19.54	17	SNP	1.000	A
MCC	4163	genome.wustl.edu	37	5	112720796	112720796	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:112720796C>G	ENST00000408903.3	-	2	699	c.284G>C	c.(283-285)aGa>aCa	p.R95T	CTD-2201G3.1_ENST00000416046.2_RNA	NM_001085377.1	NP_001078846	P23508	CRCM_HUMAN	mutated in colorectal cancers	0					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		CATGCGGCATCTTGTGAAATC	0.448																																						dbGAP											0													145.0	135.0	138.0					5																	112720796		1897	4117	6014	-	-	-	SO:0001583	missense	0				CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000408903.3:c.284G>C	5.37:g.112720796C>G	ENSP00000386227:p.Arg95Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DT05|Q6ZR04	Missense_Mutation	SNP	pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.R95T	ENST00000408903.3	37	c.284	CCDS43351.1	5	.	.	.	.	.	.	.	.	.	.	C	14.99	2.700869	0.48307	.	.	ENSG00000171444	ENST00000408903	T	0.37235	1.21	4.7	4.7	0.59300	.	0.000000	0.53938	D	0.000043	T	0.27663	0.0680	.	.	.	0.29666	N	0.842811	B	0.33238	0.403	B	0.33890	0.172	T	0.17379	-1.0371	9	0.34782	T	0.22	-15.4946	11.6488	0.51275	0.0:0.911:0.0:0.089	.	95	P23508-2	.	T	95	ENSP00000386227:R95T	ENSP00000386227:R95T	R	-	2	0	MCC	112748695	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.587000	0.53957	2.542000	0.85734	0.650000	0.86243	AGA	MCC	-	smart_EF_hand_Ca-bd	ENSG00000171444		0.448	MCC-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	MCC	HGNC	protein_coding	OTTHUMT00000370839.1	122	0.00	0	C	NM_001085377		112720796	112720796	-1	no_errors	ENST00000408903	ensembl	human	putative	69_37n	missense	99	27.74	38	SNP	1.000	G
MCF2L	23263	genome.wustl.edu	37	13	113748923	113748923	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr13:113748923G>A	ENST00000375608.3	+	28	3197	c.3139G>A	c.(3139-3141)Gac>Aac	p.D1047N	MCF2L_ENST00000442652.2_Missense_Mutation_p.D1047N|MCF2L_ENST00000434480.2_Missense_Mutation_p.D1023N|MCF2L_ENST00000421756.1_Missense_Mutation_p.D1021N|MCF2L_ENST00000535094.2_Missense_Mutation_p.D1017N|MCF2L_ENST00000375604.2_Missense_Mutation_p.D1074N|MCF2L_ENST00000375601.3_Missense_Mutation_p.D1021N|MCF2L_ENST00000397030.1_Missense_Mutation_p.D1050N|MCF2L_ENST00000423482.2_Missense_Mutation_p.D1015N			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	1047					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|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)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				CGCAGAGGAGGACGGCGGGTT	0.637																																						dbGAP											0													36.0	42.0	40.0					13																	113748923		1563	3580	5143	-	-	-	SO:0001583	missense	0			AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.3139G>A	13.37:g.113748923G>A	ENSP00000364758:p.Asp1047Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Missense_Mutation	SNP	pfam_DH-domain,pfam_Spectrin_repeat,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.D1074N	ENST00000375608.3	37	c.3220		13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.40|16.40	3.111916|3.111916	0.56398|0.56398	.|.	.|.	ENSG00000126217|ENSG00000126217	ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000434480;ENST00000423482;ENST00000440749|ENST00000397017;ENST00000453297;ENST00000441756	T;T;T;T;T;T;T;T;T|.	0.35973|.	1.33;1.33;1.28;1.35;1.3;1.35;1.29;1.33;1.3|.	4.83|4.83	4.83|4.83	0.62350|0.62350	.|.	0.444833|.	0.24740|.	N|.	0.035995|.	T|T	0.60625|0.60625	0.2283|0.2283	L|L	0.40543|0.40543	1.245|1.245	0.53005|0.53005	D|D	0.999965|0.999965	B;B;B;B|.	0.14012|.	0.001;0.001;0.009;0.001|.	B;B;B;B|.	0.15484|.	0.013;0.008;0.013;0.009|.	T|T	0.57585|0.57585	-0.7786|-0.7786	10|5	0.54805|.	T|.	0.06|.	.|.	16.9409|16.9409	0.86217|0.86217	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1015;1017;1074;1047|.	E9PDN8;O15068-9;G5E9A1;O15068|.	.;.;.;MCF2L_HUMAN|.	N|E	1047;1047;1074;1050;1017;1021;1021;1023;1015;858|702;227;45	ENSP00000364758:D1047N;ENSP00000401422:D1047N;ENSP00000364754:D1074N;ENSP00000380225:D1050N;ENSP00000440374:D1017N;ENSP00000397285:D1021N;ENSP00000364751:D1021N;ENSP00000407722:D1023N;ENSP00000405639:D1015N|.	ENSP00000364751:D1021N|.	D|G	+|+	1|2	0|0	MCF2L|MCF2L	112796924|112796924	1.000000|1.000000	0.71417|0.71417	0.955000|0.955000	0.39395|0.39395	0.113000|0.113000	0.19764|0.19764	8.411000|8.411000	0.90229|0.90229	2.227000|2.227000	0.72691|0.72691	0.655000|0.655000	0.94253|0.94253	GAC|GGA	MCF2L	-	NULL	ENSG00000126217		0.637	MCF2L-001	KNOWN	basic	protein_coding	MCF2L	HGNC	protein_coding	OTTHUMT00000045849.4	45	0.00	0	G			113748923	113748923	+1	no_errors	ENST00000375604	ensembl	human	known	69_37n	missense	24	31.43	11	SNP	1.000	A
MCHR2	84539	genome.wustl.edu	37	6	100382336	100382336	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:100382336C>T	ENST00000281806.2	-	5	959	c.645G>A	c.(643-645)gtG>gtA	p.V215V	MCHR2_ENST00000369212.2_Silent_p.V215V	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	215						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		AAATATAGCACACCAAAATCA	0.328																																						dbGAP											0													101.0	103.0	102.0					6																	100382336		2203	4298	6501	-	-	-	SO:0001819	synonymous_variant	0			AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"""GPCR / Class A : MCH receptors"""	20867	protein-coding gene	gene with protein product		606111	"""G protein-coupled receptor 145"""	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.645G>A	6.37:g.100382336C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_MCH2_receptor,prints_7TM_GPCR_Rhodpsn,prints_MCH_rcpt	p.V215	ENST00000281806.2	37	c.645	CCDS5044.1	6																																																																																			MCHR2	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000152034		0.328	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MCHR2	HGNC	protein_coding	OTTHUMT00000041620.2	127	0.00	0	C	NM_032503		100382336	100382336	-1	no_errors	ENST00000281806	ensembl	human	known	69_37n	silent	74	19.57	18	SNP	0.993	T
MCM10	55388	genome.wustl.edu	37	10	13234536	13234536	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:13234536G>A	ENST00000484800.2	+	13	1819	c.1716G>A	c.(1714-1716)atG>atA	p.M572I	MCM10_ENST00000378694.1_Missense_Mutation_p.M571I|MCM10_ENST00000378714.3_Missense_Mutation_p.M571I			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	572					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						TGTTGGAGATGAGGAGAAGGA	0.498																																						dbGAP											0													101.0	106.0	105.0					10																	13234536		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB042719	CCDS7095.1, CCDS7096.1	10p13	2008-08-01	2007-04-04		ENSG00000065328	ENSG00000065328			18043	protein-coding gene	gene with protein product		609357	"""MCM10 minichromosome maintenance deficient 10 (S. cerevisiae)"""			11095689, 17699597	Standard	NM_018518		Approved	PRO2249, CNA43, DNA43	uc001ima.3	Q7L590	OTTHUMG00000017694	ENST00000484800.2:c.1716G>A	10.37:g.13234536G>A	ENSP00000418268:p.Met572Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Missense_Mutation	SNP	pfam_Rep_factor_Mcm10,pfam_Znf_Mcm10/DnaG	p.M572I	ENST00000484800.2	37	c.1716	CCDS7096.1	10	.	.	.	.	.	.	.	.	.	.	G	7.276	0.608063	0.14002	.	.	ENSG00000065328	ENST00000378714;ENST00000361282;ENST00000484800;ENST00000378694	T;T;T	0.28666	1.6;1.6;1.6	5.36	1.38	0.22167	Replication factor Mcm10 (1);	0.563238	0.21415	N	0.074908	T	0.26048	0.0635	M	0.67953	2.075	0.24060	N	0.996015	B;B;B	0.12013	0.002;0.004;0.005	B;B;B	0.14023	0.007;0.006;0.01	T	0.22730	-1.0208	10	0.21540	T	0.41	-4.3112	6.2701	0.20949	0.4275:0.1316:0.441:0.0	.	571;571;572	Q5T670;Q7L590-2;Q7L590	.;.;MCM10_HUMAN	I	571;572;572;571	ENSP00000367986:M571I;ENSP00000418268:M572I;ENSP00000367966:M571I	ENSP00000354945:M572I	M	+	3	0	MCM10	13274542	0.984000	0.35163	0.997000	0.53966	0.570000	0.35934	0.166000	0.16583	0.259000	0.21709	-0.158000	0.13435	ATG	MCM10	-	pfam_Rep_factor_Mcm10	ENSG00000065328		0.498	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MCM10	HGNC	protein_coding	OTTHUMT00000356853.1	98	0.00	0	G	NM_182751		13234536	13234536	+1	no_errors	ENST00000361282	ensembl	human	known	69_37n	missense	77	18.09	17	SNP	0.576	A
MCM3AP	8888	genome.wustl.edu	37	21	47664968	47664968	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr21:47664968C>T	ENST00000397708.1	-	24	5045	c.4791G>A	c.(4789-4791)ctG>ctA	p.L1597L	MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|AP001469.7_ENST00000444966.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000291688.1_Silent_p.L1597L|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1597					DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CAAGACCGCCCAGACGCCTCT	0.547																																						dbGAP											0													89.0	86.0	87.0					21																	47664968		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.4791G>A	21.37:g.47664968C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Silent	SNP	pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25	p.L1597	ENST00000397708.1	37	c.4791	CCDS13734.1	21																																																																																			MCM3AP	-	NULL	ENSG00000160294		0.547	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM3AP	HGNC	protein_coding	OTTHUMT00000207254.1	55	0.00	0	C	NM_003906		47664968	47664968	-1	no_errors	ENST00000291688	ensembl	human	known	69_37n	silent	66	17.28	14	SNP	0.048	T
MCM3AP	8888	genome.wustl.edu	37	21	47703716	47703716	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr21:47703716C>T	ENST00000397708.1	-	3	1510	c.1256G>A	c.(1255-1257)aGa>aAa	p.R419K	YBEY_ENST00000339195.6_5'Flank|YBEY_ENST00000397691.1_5'Flank|YBEY_ENST00000397694.1_5'Flank|YBEY_ENST00000397701.4_5'Flank|MCM3AP_ENST00000291688.1_Missense_Mutation_p.R419K|YBEY_ENST00000329319.3_5'Flank|YBEY_ENST00000397692.1_5'Flank			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	419					DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					GCTCTCGCTTCTGTTACTCTG	0.512																																						dbGAP											0													121.0	110.0	114.0					21																	47703716		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.1256G>A	21.37:g.47703716C>T	ENSP00000380820:p.Arg419Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25	p.R419K	ENST00000397708.1	37	c.1256	CCDS13734.1	21	.	.	.	.	.	.	.	.	.	.	C	9.483	1.098729	0.20552	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	T;T	0.03717	3.83;3.83	5.27	3.45	0.39498	.	0.237188	0.40908	N	0.000989	T	0.02767	0.0083	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.43048	-0.9415	10	0.31617	T	0.26	-13.5851	9.3771	0.38290	0.0:0.7753:0.0:0.2247	.	419	O60318	MCM3A_HUMAN	K	419	ENSP00000380820:R419K;ENSP00000291688:R419K	ENSP00000291688:R419K	R	-	2	0	MCM3AP	46528144	0.996000	0.38824	0.051000	0.19133	0.315000	0.28087	3.010000	0.49559	1.217000	0.43442	0.563000	0.77884	AGA	MCM3AP	-	NULL	ENSG00000160294		0.512	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM3AP	HGNC	protein_coding	OTTHUMT00000207254.1	66	0.00	0	C	NM_003906		47703716	47703716	-1	no_errors	ENST00000291688	ensembl	human	known	69_37n	missense	40	44.44	32	SNP	0.047	T
MCM7	4176	genome.wustl.edu	37	7	99694950	99694950	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:99694950G>A	ENST00000303887.5	-	10	1820	c.1175C>T	c.(1174-1176)tCa>tTa	p.S392L	MCM7_ENST00000354230.3_Missense_Mutation_p.S216L|MCM7_ENST00000343023.6_Intron	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	392	MCM.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of phosphorylation (GO:0042325)|response to drug (GO:0042493)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ATCAATGTATGACAGGAGCTG	0.517																																						dbGAP											0													112.0	94.0	100.0					7																	99694950		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5683.1, CCDS5684.1	7q21.3-q22.1	2014-06-12	2007-04-04		ENSG00000166508	ENSG00000166508			6950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 104"""	600592	"""minichromosome maintenance deficient (S. cerevisiae) 7"", ""MCM7 minichromosome maintenance deficient 7 (S. cerevisiae)"""	MCM2		7842741	Standard	NM_005916		Approved	CDC47, PPP1R104	uc003usw.1	P33993	OTTHUMG00000154671	ENST00000303887.5:c.1175C>T	7.37:g.99694950G>A	ENSP00000307288:p.Ser392Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D2A1|A4D2A2|E9PGN9|Q15076|Q96D34|Q96GL1	Missense_Mutation	SNP	pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase,prints_MCM_7,prints_MCM_4	p.S392L	ENST00000303887.5	37	c.1175	CCDS5683.1	7	.	.	.	.	.	.	.	.	.	.	G	18.17	3.564974	0.65651	.	.	ENSG00000166508	ENST00000303887;ENST00000542483;ENST00000362082;ENST00000354230	T;T	0.11385	2.78;2.78	4.97	4.97	0.65823	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.24314	0.0589	M	0.63169	1.94	0.80722	D	1	P	0.49447	0.924	P	0.53689	0.732	T	0.00341	-1.1804	10	0.87932	D	0	-14.9637	15.7858	0.78300	0.0:0.0:1.0:0.0	.	392	P33993	MCM7_HUMAN	L	392;329;285;216	ENSP00000307288:S392L;ENSP00000346171:S216L	ENSP00000307288:S392L	S	-	2	0	MCM7	99532886	0.990000	0.36364	0.995000	0.50966	0.096000	0.18686	2.997000	0.49457	2.576000	0.86940	0.655000	0.94253	TCA	MCM7	-	pfam_MCM_DNA-dep_ATPase,pfam_ATPase_dyneun-rel_AAA,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase	ENSG00000166508		0.517	MCM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM7	HGNC	protein_coding	OTTHUMT00000336534.3	58	0.00	0	G			99694950	99694950	-1	no_errors	ENST00000303887	ensembl	human	known	69_37n	missense	66	25.84	23	SNP	1.000	A
MDGA2	161357	genome.wustl.edu	37	14	47351424	47351424	+	Splice_Site	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:47351424C>T	ENST00000399232.2	-	11	2396	c.2032G>A	c.(2032-2034)Gct>Act	p.A678T	MDGA2_ENST00000439988.3_Splice_Site_p.A747T|MDGA2_ENST00000426342.1_Splice_Site_p.A449T|MDGA2_ENST00000399222.3_5'Flank|MDGA2_ENST00000357362.3_Splice_Site_p.A449T	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	678	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TGCTGTCCAGCCTGAAATCAA	0.308																																						dbGAP											0													49.0	46.0	47.0					14																	47351424		1817	4077	5894	-	-	-	SO:0001630	splice_region_variant	0			AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.2032-1G>A	14.37:g.47351424C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	F6W3S7|J3KPX6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like	p.A747T	ENST00000399232.2	37	c.2239		14	.	.	.	.	.	.	.	.	.	.	C	16.43	3.122102	0.56613	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	T;T;T;T	0.53423	0.62;0.62;0.62;0.62	5.19	5.19	0.71726	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.000000	0.50627	U	0.000102	T	0.41627	0.1167	N	0.22421	0.69	0.80722	D	1	B;B	0.31705	0.336;0.227	B;B	0.40565	0.333;0.179	T	0.21348	-1.0248	10	0.19590	T	0.45	.	17.2796	0.87124	0.0:1.0:0.0:0.0	.	449;678	F6W3S7;Q7Z553	.;MDGA2_HUMAN	T	678;449;747;449	ENSP00000400011:A678T;ENSP00000405456:A449T;ENSP00000382178:A747T;ENSP00000349925:A449T	ENSP00000349925:A449T	A	-	1	0	MDGA2	46421174	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	4.474000	0.60203	2.437000	0.82529	0.467000	0.42956	GCT	MDGA2	-	superfamily_Fibronectin_type3	ENSG00000139915		0.308	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	MDGA2	HGNC	protein_coding	OTTHUMT00000073352.5	91	0.00	0	C	NM_182830	Missense_Mutation	47351424	47351424	-1	no_errors	ENST00000399232	ensembl	human	known	69_37n	missense	41	25.45	14	SNP	1.000	T
MDH1B	130752	genome.wustl.edu	37	2	207619974	207619974	+	Missense_Mutation	SNP	G	G	T	rs368782495		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:207619974G>T	ENST00000374412.3	-	5	944	c.669C>A	c.(667-669)ttC>ttA	p.F223L	MDH1B_ENST00000449792.1_Missense_Mutation_p.F125L|MDH1B_ENST00000392214.2_Intron|MDH1B_ENST00000454776.2_Missense_Mutation_p.F223L	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	223					carbohydrate metabolic process (GO:0005975)|malate metabolic process (GO:0006108)|tricarboxylic acid cycle (GO:0006099)		malate dehydrogenase activity (GO:0016615)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		CCTCCAGAGTGAACACCTCCT	0.577																																					Pancreas(76;29 1355 28675 37177 51207)	dbGAP											0													63.0	57.0	59.0					2																	207619974		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33365.1, CCDS63102.1	2q33.3	2008-05-27			ENSG00000138400	ENSG00000138400			17836	protein-coding gene	gene with protein product							Standard	NM_001039845		Approved	FLJ25341, RP11-95H11	uc002vbs.3	Q5I0G3	OTTHUMG00000132918	ENST00000374412.3:c.669C>A	2.37:g.207619974G>T	ENSP00000363533:p.Phe223Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8M1|Q53TK9|Q8IV51	Missense_Mutation	SNP	pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C	p.F223L	ENST00000374412.3	37	c.669	CCDS33365.1	2	.	.	.	.	.	.	.	.	.	.	G	6.537	0.467262	0.12402	.	.	ENSG00000138400	ENST00000374412;ENST00000449792;ENST00000454776	T;T;T	0.08102	3.13;3.13;3.13	5.68	2.54	0.30619	NAD(P)-binding domain (1);	2.661370	0.00775	N	0.001235	T	0.03434	0.0099	N	0.02539	-0.55	0.09310	N	0.999996	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.37686	-0.9695	10	0.17369	T	0.5	2.6792	1.574	0.02621	0.1696:0.3149:0.3218:0.1937	.	223;223	Q5I0G3-2;Q5I0G3	.;MDH1B_HUMAN	L	223;125;223	ENSP00000363533:F223L;ENSP00000416577:F125L;ENSP00000389916:F223L	ENSP00000363533:F223L	F	-	3	2	MDH1B	207328219	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.269000	0.08596	0.814000	0.34374	0.650000	0.86243	TTC	MDH1B	-	NULL	ENSG00000138400		0.577	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MDH1B	HGNC	protein_coding	OTTHUMT00000256429.2	46	0.00	0	G	NM_001039845		207619974	207619974	-1	no_errors	ENST00000374412	ensembl	human	known	69_37n	missense	54	19.40	13	SNP	0.001	T
MDM1	56890	genome.wustl.edu	37	12	68707261	68707261	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:68707261G>A	ENST00000303145.7	-	11	1767	c.1681C>T	c.(1681-1683)Cag>Tag	p.Q561*	MDM1_ENST00000540418.1_Nonsense_Mutation_p.Q281*|MDM1_ENST00000411698.2_Nonsense_Mutation_p.Q526*	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	561					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)		AAACAATCCTGAGAGGTCATT	0.363																																						dbGAP											0													88.0	92.0	91.0					12																	68707261		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			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.1681C>T	12.37:g.68707261G>A	ENSP00000302537:p.Gln561*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DM65|E7EPQ3|O43406|Q8WTV9|Q9NR04	Nonsense_Mutation	SNP	NULL	p.Q561*	ENST00000303145.7	37	c.1681	CCDS8983.1	12	.	.	.	.	.	.	.	.	.	.	G	39	7.507489	0.98325	.	.	ENSG00000111554	ENST00000540418;ENST00000303145;ENST00000411698	.	.	.	5.08	4.17	0.49024	.	0.629055	0.14881	N	0.292977	.	.	.	.	.	.	0.37722	D	0.924946	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.1093	9.4439	0.38686	0.1613:0.0:0.8387:0.0	.	.	.	.	X	281;561;526	.	.	Q	-	1	0	MDM1	66993528	0.994000	0.37717	0.963000	0.40424	0.938000	0.57974	2.311000	0.43717	2.529000	0.85273	0.555000	0.69702	CAG	MDM1	-	NULL	ENSG00000111554		0.363	MDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MDM1	HGNC	protein_coding	OTTHUMT00000402402.1	109	0.00	0	G	NM_020128		68707261	68707261	-1	no_errors	ENST00000303145	ensembl	human	known	69_37n	nonsense	95	14.41	16	SNP	0.301	A
MDM1	56890	genome.wustl.edu	37	12	68709007	68709007	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:68709007G>A	ENST00000303145.7	-	9	1306	c.1220C>T	c.(1219-1221)tCt>tTt	p.S407F	MDM1_ENST00000540418.1_Missense_Mutation_p.S127F|MDM1_ENST00000411698.2_Missense_Mutation_p.S372F	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	407					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)		TGGTTCTGTAGAAGGACATTT	0.393																																						dbGAP											0													75.0	80.0	78.0					12																	68709007		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.1220C>T	12.37:g.68709007G>A	ENSP00000302537:p.Ser407Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DM65|E7EPQ3|O43406|Q8WTV9|Q9NR04	Missense_Mutation	SNP	NULL	p.S407F	ENST00000303145.7	37	c.1220	CCDS8983.1	12	.	.	.	.	.	.	.	.	.	.	G	12.45	1.943127	0.34283	.	.	ENSG00000111554	ENST00000540418;ENST00000303145;ENST00000411698	T;T;T	0.26810	1.71;1.71;1.71	4.45	3.54	0.40534	.	0.991180	0.08205	N	0.981626	T	0.34483	0.0899	L	0.34521	1.04	0.22719	N	0.998816	D;B	0.56968	0.978;0.003	P;B	0.56700	0.804;0.007	T	0.25502	-1.0130	9	.	.	.	-0.7536	11.7823	0.52021	0.0:0.1781:0.8219:0.0	.	372;407	E7EPQ3;Q8TC05	.;MDM1_HUMAN	F	127;407;372	ENSP00000443815:S127F;ENSP00000302537:S407F;ENSP00000391006:S372F	.	S	-	2	0	MDM1	66995274	0.836000	0.29430	0.012000	0.15200	0.704000	0.40688	2.321000	0.43805	1.197000	0.43143	0.561000	0.74099	TCT	MDM1	-	NULL	ENSG00000111554		0.393	MDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MDM1	HGNC	protein_coding	OTTHUMT00000402402.1	74	0.00	0	G	NM_020128		68709007	68709007	-1	no_errors	ENST00000303145	ensembl	human	known	69_37n	missense	76	19.15	18	SNP	0.010	A
MDM1	56890	genome.wustl.edu	37	12	68719275	68719275	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:68719275C>A	ENST00000303145.7	-	4	665	c.579G>T	c.(577-579)agG>agT	p.R193S	MDM1_ENST00000393543.3_3'UTR|MDM1_ENST00000540418.1_5'UTR|MDM1_ENST00000430606.2_3'UTR|MDM1_ENST00000545724.1_5'UTR|MDM1_ENST00000411698.2_Intron	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	193					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)		AAACAAACTGCCTTTGATATT	0.363																																						dbGAP											0													143.0	154.0	150.0					12																	68719275		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.579G>T	12.37:g.68719275C>A	ENSP00000302537:p.Arg193Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DM65|E7EPQ3|O43406|Q8WTV9|Q9NR04	Missense_Mutation	SNP	NULL	p.R193S	ENST00000303145.7	37	c.579	CCDS8983.1	12	.	.	.	.	.	.	.	.	.	.	C	12.29	1.894266	0.33442	.	.	ENSG00000111554	ENST00000303145;ENST00000541686	T;T	0.25912	1.77;1.77	5.29	1.38	0.22167	.	0.047102	0.85682	D	0.000000	T	0.23249	0.0562	L	0.43554	1.36	0.80722	D	1	D	0.56521	0.976	P	0.50314	0.637	T	0.04103	-1.0977	9	.	.	.	-16.2439	3.6652	0.08253	0.106:0.5294:0.1037:0.2609	.	193	Q8TC05	MDM1_HUMAN	S	193;188	ENSP00000302537:R193S;ENSP00000446000:R188S	.	R	-	3	2	MDM1	67005542	0.986000	0.35501	1.000000	0.80357	0.998000	0.95712	0.023000	0.13533	0.336000	0.23639	0.561000	0.74099	AGG	MDM1	-	NULL	ENSG00000111554		0.363	MDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MDM1	HGNC	protein_coding	OTTHUMT00000402402.1	74	0.00	0	C	NM_020128		68719275	68719275	-1	no_errors	ENST00000303145	ensembl	human	known	69_37n	missense	55	14.06	9	SNP	0.996	A
MDM1	56890	genome.wustl.edu	37	12	68720395	68720395	+	Intron	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:68720395G>T	ENST00000303145.7	-	3	585				MDM1_ENST00000393543.3_3'UTR|MDM1_ENST00000540418.1_Intron|MDM1_ENST00000430606.2_Missense_Mutation_p.F180L|MDM1_ENST00000545724.1_Intron|MDM1_ENST00000411698.2_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)		AACCAATGAAGAATTCTATGC	0.303																																						dbGAP											0													71.0	76.0	74.0					12																	68720395		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			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.498+41C>A	12.37:g.68720395G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DM65|E7EPQ3|O43406|Q8WTV9|Q9NR04	Missense_Mutation	SNP	NULL	p.F180L	ENST00000303145.7	37	c.540	CCDS8983.1	12	.	.	.	.	.	.	.	.	.	.	G	0.130	-1.115213	0.01799	.	.	ENSG00000111554	ENST00000430606	T	0.48201	0.82	4.61	2.1	0.27182	.	.	.	.	.	T	0.22085	0.0532	N	0.08118	0	0.09310	N	1	B	0.16396	0.017	B	0.15484	0.013	T	0.19976	-1.0289	8	.	.	.	.	3.6871	0.08332	0.212:0.0:0.4198:0.3682	.	180	Q8TC05-2	.	L	180	ENSP00000408694:F180L	.	F	-	3	2	MDM1	67006662	0.000000	0.05858	0.007000	0.13788	0.030000	0.12068	-0.139000	0.10358	0.504000	0.28082	0.491000	0.48974	TTC	MDM1	-	NULL	ENSG00000111554		0.303	MDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MDM1	HGNC	protein_coding	OTTHUMT00000402402.1	74	0.00	0	G	NM_020128		68720395	68720395	-1	no_errors	ENST00000430606	ensembl	human	known	69_37n	missense	76	13.64	12	SNP	0.000	T
MDM1	56890	genome.wustl.edu	37	12	68720625	68720625	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:68720625G>A	ENST00000303145.7	-	3	396	c.310C>T	c.(310-312)Caa>Taa	p.Q104*	MDM1_ENST00000393543.3_3'UTR|MDM1_ENST00000540418.1_Intron|MDM1_ENST00000430606.2_Nonsense_Mutation_p.Q104*|MDM1_ENST00000545724.1_5'UTR|MDM1_ENST00000411698.2_Nonsense_Mutation_p.Q104*	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	104					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)		ACTCTTTCTTGAGTAACATCC	0.463																																						dbGAP											0													131.0	119.0	123.0					12																	68720625		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			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.310C>T	12.37:g.68720625G>A	ENSP00000302537:p.Gln104*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DM65|E7EPQ3|O43406|Q8WTV9|Q9NR04	Nonsense_Mutation	SNP	NULL	p.Q104*	ENST00000303145.7	37	c.310	CCDS8983.1	12	.	.	.	.	.	.	.	.	.	.	G	17.54	3.416143	0.62511	.	.	ENSG00000111554	ENST00000303145;ENST00000411698;ENST00000541686;ENST00000430606	.	.	.	5.25	3.24	0.37175	.	0.509560	0.20223	N	0.096657	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.606	14.3917	0.66983	0.0:0.2778:0.7222:0.0	.	.	.	.	X	104;104;99;104	.	.	Q	-	1	0	MDM1	67006892	0.036000	0.19791	0.018000	0.16275	0.697000	0.40408	1.730000	0.38125	1.278000	0.44430	0.561000	0.74099	CAA	MDM1	-	NULL	ENSG00000111554		0.463	MDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MDM1	HGNC	protein_coding	OTTHUMT00000402402.1	186	0.53	1	G	NM_020128		68720625	68720625	-1	no_errors	ENST00000303145	ensembl	human	known	69_37n	nonsense	144	17.71	31	SNP	0.153	A
MDN1	23195	genome.wustl.edu	37	6	90392967	90392967	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:90392967C>G	ENST00000369393.3	-	73	12101	c.11986G>C	c.(11986-11988)Gaa>Caa	p.E3996Q	MDN1_ENST00000428876.1_Missense_Mutation_p.E3996Q			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3996					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)		TCAGGCTGTTCTTCCTTGTCA	0.502																																						dbGAP											0													99.0	85.0	90.0					6																	90392967		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.11986G>C	6.37:g.90392967C>G	ENSP00000358400:p.Glu3996Gln	Somatic		WXS	Illumina GAIIx	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.E3996Q	ENST00000369393.3	37	c.11986	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	C	11.29	1.595017	0.28445	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03330	3.97;3.97	5.7	4.83	0.62350	.	0.355876	0.28859	N	0.013902	T	0.02494	0.0076	M	0.74881	2.28	0.35799	D	0.823027	B	0.32918	0.39	B	0.27380	0.079	T	0.38802	-0.9644	10	0.16896	T	0.51	.	16.9337	0.86198	0.0:0.8721:0.1279:0.0	.	3996	Q9NU22	MDN1_HUMAN	Q	3996	ENSP00000358400:E3996Q;ENSP00000413970:E3996Q	ENSP00000358400:E3996Q	E	-	1	0	MDN1	90449688	0.974000	0.33945	0.969000	0.41365	0.724000	0.41520	2.968000	0.49224	1.437000	0.47472	-0.218000	0.12543	GAA	MDN1	-	pirsf_Midasin	ENSG00000112159		0.502	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	71	0.00	0	C			90392967	90392967	-1	no_errors	ENST00000369393	ensembl	human	known	69_37n	missense	67	19.28	16	SNP	1.000	G
MDN1	23195	genome.wustl.edu	37	6	90400419	90400419	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:90400419G>T	ENST00000369393.3	-	64	10837	c.10722C>A	c.(10720-10722)ttC>ttA	p.F3574L	MDN1_ENST00000428876.1_Missense_Mutation_p.F3574L			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3574					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)		ACTGTTTTCTGAACTCCCGTT	0.498																																						dbGAP											0													139.0	106.0	117.0					6																	90400419		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.10722C>A	6.37:g.90400419G>T	ENSP00000358400:p.Phe3574Leu	Somatic		WXS	Illumina GAIIx	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.F3574L	ENST00000369393.3	37	c.10722	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	G	9.570	1.120676	0.20877	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03124	4.04;4.04	5.66	2.81	0.32909	.	0.056023	0.64402	N	0.000001	T	0.01092	0.0036	L	0.34521	1.04	0.42205	D	0.991781	P	0.38922	0.651	B	0.35859	0.212	T	0.62718	-0.6795	10	0.22109	T	0.4	.	9.1323	0.36852	0.3359:0.0:0.6641:0.0	.	3574	Q9NU22	MDN1_HUMAN	L	3574	ENSP00000358400:F3574L;ENSP00000413970:F3574L	ENSP00000358400:F3574L	F	-	3	2	MDN1	90457140	1.000000	0.71417	0.950000	0.38849	0.293000	0.27360	3.770000	0.55310	0.286000	0.22352	0.460000	0.39030	TTC	MDN1	-	pirsf_Midasin	ENSG00000112159		0.498	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	81	0.00	0	G			90400419	90400419	-1	no_errors	ENST00000369393	ensembl	human	known	69_37n	missense	67	19.28	16	SNP	1.000	T
MDN1	23195	genome.wustl.edu	37	6	90405449	90405449	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:90405449C>G	ENST00000369393.3	-	61	9761	c.9646G>C	c.(9646-9648)Gag>Cag	p.E3216Q	MDN1_ENST00000428876.1_Missense_Mutation_p.E3216Q			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3216					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)		TGGGCTGGCTCAGGCAGGCTC	0.612																																						dbGAP											0													38.0	38.0	38.0					6																	90405449		2201	4299	6500	-	-	-	SO:0001583	missense	0			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.9646G>C	6.37:g.90405449C>G	ENSP00000358400:p.Glu3216Gln	Somatic		WXS	Illumina GAIIx	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.E3216Q	ENST00000369393.3	37	c.9646	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	C	8.428	0.847846	0.17034	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03181	4.02;4.02	5.19	5.19	0.71726	.	0.270735	0.35525	N	0.003147	T	0.02012	0.0063	L	0.44542	1.39	0.29551	N	0.851333	B	0.17465	0.022	B	0.12156	0.007	T	0.39292	-0.9621	10	0.26408	T	0.33	.	18.6816	0.91548	0.0:1.0:0.0:0.0	.	3216	Q9NU22	MDN1_HUMAN	Q	3216	ENSP00000358400:E3216Q;ENSP00000413970:E3216Q	ENSP00000358400:E3216Q	E	-	1	0	MDN1	90462170	1.000000	0.71417	0.673000	0.29887	0.388000	0.30384	4.377000	0.59562	2.420000	0.82092	0.655000	0.94253	GAG	MDN1	-	pirsf_Midasin	ENSG00000112159		0.612	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	23	0.00	0	C			90405449	90405449	-1	no_errors	ENST00000369393	ensembl	human	known	69_37n	missense	19	38.71	12	SNP	0.632	G
MDN1	23195	genome.wustl.edu	37	6	90409323	90409323	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:90409323C>T	ENST00000369393.3	-	58	9109	c.8994G>A	c.(8992-8994)caG>caA	p.Q2998Q	MDN1_ENST00000428876.1_Silent_p.Q2998Q			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2998					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)		TTTTTACCTTCTGATGATGCA	0.363																																						dbGAP											0													160.0	152.0	155.0					6																	90409323		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			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.8994G>A	6.37:g.90409323C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O15019|Q5T794	Silent	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.Q2998	ENST00000369393.3	37	c.8994	CCDS5024.1	6																																																																																			MDN1	-	pirsf_Midasin	ENSG00000112159		0.363	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	111	0.00	0	C			90409323	90409323	-1	no_errors	ENST00000369393	ensembl	human	known	69_37n	silent	65	21.69	18	SNP	0.023	T
MDN1	23195	genome.wustl.edu	37	6	90442382	90442382	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:90442382C>T	ENST00000369393.3	-	34	4951	c.4836G>A	c.(4834-4836)atG>atA	p.M1612I	MDN1_ENST00000428876.1_Missense_Mutation_p.M1612I			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1612					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)		CCATTTTGTTCATGAAGTTAA	0.463																																						dbGAP											0													196.0	173.0	181.0					6																	90442382		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.4836G>A	6.37:g.90442382C>T	ENSP00000358400:p.Met1612Ile	Somatic		WXS	Illumina GAIIx	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.M1612I	ENST00000369393.3	37	c.4836	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	C	12.56	1.975098	0.34848	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.37915	1.17;1.17	5.31	5.31	0.75309	.	0.046495	0.85682	D	0.000000	T	0.15696	0.0378	L	0.28054	0.825	0.50813	D	0.99989	B	0.17038	0.02	B	0.14023	0.01	T	0.05354	-1.0890	10	0.18710	T	0.47	.	19.3448	0.94358	0.0:1.0:0.0:0.0	.	1612	Q9NU22	MDN1_HUMAN	I	1612	ENSP00000358400:M1612I;ENSP00000413970:M1612I	ENSP00000358400:M1612I	M	-	3	0	MDN1	90499103	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	4.027000	0.57239	2.638000	0.89438	0.563000	0.77884	ATG	MDN1	-	pirsf_Midasin	ENSG00000112159		0.463	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	99	0.00	0	C			90442382	90442382	-1	no_errors	ENST00000369393	ensembl	human	known	69_37n	missense	83	27.19	31	SNP	1.000	T
MDN1	23195	genome.wustl.edu	37	6	90461177	90461177	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:90461177C>G	ENST00000369393.3	-	23	3315	c.3200G>C	c.(3199-3201)aGa>aCa	p.R1067T	MDN1_ENST00000428876.1_Missense_Mutation_p.R1067T			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1067					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)		GACTATATCTCTCAGGTTCAG	0.483																																						dbGAP											0													134.0	118.0	124.0					6																	90461177		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.3200G>C	6.37:g.90461177C>G	ENSP00000358400:p.Arg1067Thr	Somatic		WXS	Illumina GAIIx	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.R1067T	ENST00000369393.3	37	c.3200	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	C	13.99	2.400790	0.42613	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	T;T;T	0.12569	2.67;2.67;2.67	5.71	4.84	0.62591	.	0.232730	0.40640	N	0.001046	T	0.05456	0.0144	L	0.56340	1.77	0.31393	N	0.67765	B;B	0.21309	0.054;0.024	B;B	0.28305	0.03;0.088	T	0.31724	-0.9933	10	0.12766	T	0.61	.	11.3623	0.49651	0.0:0.8432:0.0:0.1568	.	994;1067	Q5T795;Q9NU22	.;MDN1_HUMAN	T	1067;1067;994	ENSP00000358400:R1067T;ENSP00000413970:R1067T;ENSP00000409664:R994T	ENSP00000358400:R1067T	R	-	2	0	MDN1	90517898	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.470000	0.60175	1.405000	0.46838	0.655000	0.94253	AGA	MDN1	-	pirsf_Midasin	ENSG00000112159		0.483	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	90	0.00	0	C			90461177	90461177	-1	no_errors	ENST00000369393	ensembl	human	known	69_37n	missense	79	26.17	28	SNP	1.000	G
MDP1	145553	genome.wustl.edu	37	14	24684867	24684867	+	Splice_Site	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:24684867C>T	ENST00000288087.7	-	3	211	c.100G>A	c.(100-102)Gat>Aat	p.D34N	AL136419.6_ENST00000565988.1_RNA|NEDD8-MDP1_ENST00000604306.1_5'UTR|NEDD8-MDP1_ENST00000534348.1_Splice_Site_p.D51N|CHMP4A_ENST00000542700.2_5'Flank|CHMP4A_ENST00000347519.6_5'Flank|MDP1_ENST00000532557.1_5'UTR|CHMP4A_ENST00000609024.1_5'Flank|TM9SF1_ENST00000556387.1_5'Flank|TM9SF1_ENST00000530611.1_5'Flank|MDP1_ENST00000396833.2_Splice_Site_p.D34N|CHMP4A_ENST00000530996.1_5'Flank	NM_001199822.1|NM_138476.3	NP_001186751.1|NP_612485.2	Q86V88	MGDP1_HUMAN	magnesium-dependent phosphatase 1	34						extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|large_intestine(2)|lung(3)	7						ACAGTTCCATCACTGGAGAGG	0.612											OREG0022620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													161.0	162.0	162.0					14																	24684867		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			BC046912	CCDS9620.1, CCDS55908.1	14q12	2009-07-09			ENSG00000213920	ENSG00000213920			28781	protein-coding gene	gene with protein product	"""fructosamine-6-phosphatase"""					10889041, 16670083	Standard	NM_138476		Approved	MGC5987, FN6Pase		Q86V88	OTTHUMG00000133477	ENST00000288087.7:c.99-1G>A	14.37:g.24684867C>T		Somatic	773	WXS	Illumina GAIIx	Phase_IV	Q86Y84|Q8NAD9	Missense_Mutation	SNP	pfam_NIF,superfamily_HAD-like_dom,tigrfam_MDP_1_eu_arc,tigrfam_HAD_SF_ppase_IIIC	p.D34N	ENST00000288087.7	37	c.100	CCDS9620.1	14	.	.	.	.	.	.	.	.	.	.	C	12.49	1.953124	0.34471	.	.	ENSG00000213920;ENSG00000213920;ENSG00000255526	ENST00000288087;ENST00000396833;ENST00000534348	D;D;D	0.99113	-4.31;-4.31;-5.44	4.86	3.05	0.35203	HAD-like domain (2);HAD-superfamily phosphatase, subfamily IIIC (1);	.	.	.	.	D	0.95043	0.8395	N	0.11818	0.18	0.80722	D	1	B;B;B	0.12013	0.005;0.005;0.0	B;B;B	0.14023	0.009;0.01;0.0	D	0.90614	0.4554	9	0.13108	T	0.6	-11.0707	10.7466	0.46183	0.0:0.885:0.0:0.115	.	34;34;34	Q86V88-3;Q86V88;Q86V88-2	.;MGDP1_HUMAN;.	N	34;34;51	ENSP00000288087:D34N;ENSP00000380045:D34N;ENSP00000431482:D51N	ENSP00000288087:D34N	D	-	1	0	MDP1;NEDD8-MDP1	23754707	0.986000	0.35501	0.991000	0.47740	0.627000	0.37826	1.739000	0.38217	0.587000	0.29643	-0.782000	0.03352	GAT	MDP1	-	pfam_NIF,superfamily_HAD-like_dom,tigrfam_MDP_1_eu_arc,tigrfam_HAD_SF_ppase_IIIC	ENSG00000213920		0.612	MDP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	MDP1	HGNC	protein_coding	OTTHUMT00000257367.1	69	0.00	0	C	NM_138476	Missense_Mutation	24684867	24684867	-1	no_errors	ENST00000288087	ensembl	human	known	69_37n	missense	58	22.67	17	SNP	0.997	T
ME2	4200	genome.wustl.edu	37	18	48465962	48465962	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr18:48465962C>T	ENST00000321341.5	+	14	1712	c.1440C>T	c.(1438-1440)ctC>ctT	p.L480L	ME2_ENST00000382927.3_Intron|ME2_ENST00000585680.1_Intron	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	480					malate metabolic process (GO:0006108)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)		CTGTTATTCTCTGTAACACCC	0.308																																						dbGAP											0													129.0	128.0	128.0					18																	48465962		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M55905	CCDS11948.1, CCDS54187.1	18q21	2012-10-02			ENSG00000082212	ENSG00000082212	1.1.1.40		6984	protein-coding gene	gene with protein product		154270				1993674	Standard	NM_002396		Approved		uc002ley.3	P23368	OTTHUMG00000132694	ENST00000321341.5:c.1440C>T	18.37:g.48465962C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8J2|Q9BWL6|Q9BYG1|Q9H4B2	Silent	SNP	pfam_Malic_NAD-bd,pfam_Malic_N,smart_Malic_NAD-bd,prints_Malic_OxRdtase	p.L480	ENST00000321341.5	37	c.1440	CCDS11948.1	18																																																																																			ME2	-	pfam_Malic_NAD-bd,smart_Malic_NAD-bd	ENSG00000082212		0.308	ME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ME2	HGNC	protein_coding	OTTHUMT00000255991.1	165	0.00	0	C	NM_002396		48465962	48465962	+1	no_errors	ENST00000321341	ensembl	human	known	69_37n	silent	70	26.32	25	SNP	1.000	T
MED12L	116931	genome.wustl.edu	37	3	151073779	151073779	+	Silent	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:151073779C>A	ENST00000474524.1	+	17	2546	c.2508C>A	c.(2506-2508)ctC>ctA	p.L836L	P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000491549.1_3'UTR|MED12L_ENST00000273432.4_Silent_p.L696L	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	836						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCTTTGATCTCATGGAGCCAG	0.433																																						dbGAP											0													176.0	160.0	166.0					3																	151073779		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.2508C>A	3.37:g.151073779C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Silent	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd	p.L836	ENST00000474524.1	37	c.2508	CCDS33876.1	3																																																																																			MED12L	-	NULL	ENSG00000144893		0.433	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED12L	HGNC	protein_coding	OTTHUMT00000357707.2	140	0.00	0	C	NM_053002		151073779	151073779	+1	no_errors	ENST00000474524	ensembl	human	known	69_37n	silent	156	15.22	28	SNP	1.000	A
MED12L	116931	genome.wustl.edu	37	3	151134121	151134121	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:151134121C>T	ENST00000474524.1	+	41	6252	c.6214C>T	c.(6214-6216)Cag>Tag	p.Q2072*	MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	2072	Gln-rich.					mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ccagcagccccagccccagca	0.547																																						dbGAP											0													24.0	28.0	27.0					3																	151134121		2202	4299	6501	-	-	-	SO:0001587	stop_gained	0			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.6214C>T	3.37:g.151134121C>T	ENSP00000417235:p.Gln2072*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Nonsense_Mutation	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd	p.Q2072*	ENST00000474524.1	37	c.6214	CCDS33876.1	3	.	.	.	.	.	.	.	.	.	.	C	45	11.912154	0.99616	.	.	ENSG00000144893	ENST00000474524	.	.	.	3.2	2.3	0.28687	.	2.687920	0.01702	U	0.027269	.	.	.	.	.	.	0.58432	D	0.999994	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	.	9.4835	0.38915	0.0:0.7825:0.2174:0.0	.	.	.	.	X	2072	.	ENSP00000417235:Q2072X	Q	+	1	0	MED12L	152616811	0.313000	0.24554	0.805000	0.32314	0.973000	0.67179	0.469000	0.22067	0.544000	0.28883	0.467000	0.42956	CAG	MED12L	-	NULL	ENSG00000144893		0.547	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED12L	HGNC	protein_coding	OTTHUMT00000357707.2	42	0.00	0	C	NM_053002		151134121	151134121	+1	no_errors	ENST00000474524	ensembl	human	known	69_37n	nonsense	41	10.87	5	SNP	0.795	T
MED13	9969	genome.wustl.edu	37	17	60023861	60023861	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:60023861G>A	ENST00000397786.2	-	30	6569	c.6493C>T	c.(6493-6495)Cag>Tag	p.Q2165*		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	2165					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTATATAACTGATTCAGCACC	0.403																																						dbGAP											0													77.0	73.0	74.0					17																	60023861		1872	4110	5982	-	-	-	SO:0001587	stop_gained	0			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.6493C>T	17.37:g.60023861G>A	ENSP00000380888:p.Gln2165*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RU05|O60334	Nonsense_Mutation	SNP	pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun	p.Q2165*	ENST00000397786.2	37	c.6493	CCDS42366.1	17	.	.	.	.	.	.	.	.	.	.	G	45	11.278424	0.99540	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	.	.	.	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-4.4995	18.2754	0.90081	0.0:0.0:1.0:0.0	.	.	.	.	X	2165;2164	.	ENSP00000262436:Q2164X	Q	-	1	0	MED13	57378643	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.367000	0.97148	2.315000	0.78130	0.591000	0.81541	CAG	MED13	-	pfam_Mediator_Med13	ENSG00000108510		0.403	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13	HGNC	protein_coding	OTTHUMT00000445461.1	88	0.00	0	G	NM_005121		60023861	60023861	-1	no_errors	ENST00000397786	ensembl	human	known	69_37n	nonsense	133	17.90	29	SNP	1.000	A
MED13	9969	genome.wustl.edu	37	17	60028299	60028299	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:60028299G>A	ENST00000397786.2	-	28	6254	c.6178C>T	c.(6178-6180)Cag>Tag	p.Q2060*		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	2060					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AATGGTTGCTGAAGAATATTA	0.413																																						dbGAP											0													125.0	116.0	119.0					17																	60028299		1929	4163	6092	-	-	-	SO:0001587	stop_gained	0			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.6178C>T	17.37:g.60028299G>A	ENSP00000380888:p.Gln2060*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RU05|O60334	Nonsense_Mutation	SNP	pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun	p.Q2060*	ENST00000397786.2	37	c.6178	CCDS42366.1	17	.	.	.	.	.	.	.	.	.	.	G	47	13.237628	0.99729	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-5.8251	20.5792	0.99380	0.0:0.0:1.0:0.0	.	.	.	.	X	2060;2059	.	ENSP00000262436:Q2059X	Q	-	1	0	MED13	57383081	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.433000	0.97501	2.873000	0.98535	0.561000	0.74099	CAG	MED13	-	pfam_Mediator_Med13	ENSG00000108510		0.413	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13	HGNC	protein_coding	OTTHUMT00000445461.1	71	0.00	0	G	NM_005121		60028299	60028299	-1	no_errors	ENST00000397786	ensembl	human	known	69_37n	nonsense	105	13.93	17	SNP	1.000	A
MED13	9969	genome.wustl.edu	37	17	60059607	60059607	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:60059607C>T	ENST00000397786.2	-	16	3833	c.3757G>A	c.(3757-3759)Gaa>Aaa	p.E1253K		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1253					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ACAAGTGCTTCATCAACTTTT	0.403																																						dbGAP											0													118.0	108.0	111.0					17																	60059607		1920	4141	6061	-	-	-	SO:0001583	missense	0			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.3757G>A	17.37:g.60059607C>T	ENSP00000380888:p.Glu1253Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RU05|O60334	Missense_Mutation	SNP	pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun	p.E1253K	ENST00000397786.2	37	c.3757	CCDS42366.1	17	.	.	.	.	.	.	.	.	.	.	C	28.7	4.939314	0.92526	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	T	0.69561	-0.41	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.81626	0.4862	M	0.68952	2.095	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	T	0.81812	-0.0761	10	0.66056	D	0.02	-11.8218	20.1356	0.98028	0.0:1.0:0.0:0.0	.	1253	Q9UHV7	MED13_HUMAN	K	1253;1252	ENSP00000380888:E1253K	ENSP00000262436:E1252K	E	-	1	0	MED13	57414389	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.403000	0.79983	2.755000	0.94549	0.650000	0.86243	GAA	MED13	-	NULL	ENSG00000108510		0.403	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13	HGNC	protein_coding	OTTHUMT00000445461.1	55	0.00	0	C	NM_005121		60059607	60059607	-1	no_errors	ENST00000397786	ensembl	human	known	69_37n	missense	70	14.63	12	SNP	1.000	T
MED13	9969	genome.wustl.edu	37	17	60072533	60072533	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:60072533C>G	ENST00000397786.2	-	10	2237	c.2161G>C	c.(2161-2163)Gaa>Caa	p.E721Q		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	721					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTTCCAGCTTCTCTCTCACTA	0.358																																						dbGAP											0													169.0	145.0	153.0					17																	60072533		1826	4083	5909	-	-	-	SO:0001583	missense	0			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.2161G>C	17.37:g.60072533C>G	ENSP00000380888:p.Glu721Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RU05|O60334	Missense_Mutation	SNP	pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun	p.E721Q	ENST00000397786.2	37	c.2161	CCDS42366.1	17	.	.	.	.	.	.	.	.	.	.	C	26.7	4.767069	0.90020	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	T	0.77750	-1.12	5.32	5.32	0.75619	.	0.048252	0.85682	D	0.000000	T	0.81945	0.4930	L	0.46157	1.445	0.80722	D	1	D	0.67145	0.996	P	0.57204	0.815	T	0.78617	-0.2134	10	0.27785	T	0.31	-9.3847	19.3563	0.94416	0.0:1.0:0.0:0.0	.	721	Q9UHV7	MED13_HUMAN	Q	721;720	ENSP00000380888:E721Q	ENSP00000262436:E720Q	E	-	1	0	MED13	57427315	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.714000	0.74692	2.648000	0.89879	0.557000	0.71058	GAA	MED13	-	NULL	ENSG00000108510		0.358	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13	HGNC	protein_coding	OTTHUMT00000445461.1	214	0.00	0	C	NM_005121		60072533	60072533	-1	no_errors	ENST00000397786	ensembl	human	known	69_37n	missense	335	13.88	54	SNP	1.000	G
MED13L	23389	genome.wustl.edu	37	12	116421319	116421319	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:116421319C>A	ENST00000281928.3	-	21	4764	c.4558G>T	c.(4558-4560)Gat>Tat	p.D1520Y		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1520						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		AGGCTGCTATCAAGCTGCAGA	0.483											OREG0022156	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													88.0	92.0	91.0					12																	116421319		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.4558G>T	12.37:g.116421319C>A	ENSP00000281928:p.Asp1520Tyr	Somatic	1473	WXS	Illumina GAIIx	Phase_IV	A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun	p.D1520Y	ENST00000281928.3	37	c.4558	CCDS9177.1	12	.	.	.	.	.	.	.	.	.	.	C	19.84	3.902675	0.72754	.	.	ENSG00000123066	ENST00000281928	T	0.73575	-0.76	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.88782	0.6530	M	0.84846	2.72	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88804	0.3287	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1520	Q71F56	MD13L_HUMAN	Y	1520	ENSP00000281928:D1520Y	ENSP00000281928:D1520Y	D	-	1	0	MED13L	114905702	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	6.266000	0.72540	2.941000	0.99782	0.655000	0.94253	GAT	MED13L	-	NULL	ENSG00000123066		0.483	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13L	HGNC	protein_coding	OTTHUMT00000403879.3	74	0.00	0	C			116421319	116421319	-1	no_errors	ENST00000281928	ensembl	human	known	69_37n	missense	92	20.00	23	SNP	1.000	A
MED14	9282	genome.wustl.edu	37	X	40542223	40542223	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:40542223C>T	ENST00000324817.1	-	17	2201	c.2083G>A	c.(2083-2085)Gag>Aag	p.E695K	MED14_ENST00000496531.2_5'Flank	NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	695	Interaction with SREBF1.				androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGGGTTTCCTCAGTTATACCC	0.413																																						dbGAP											0													91.0	82.0	85.0					X																	40542223		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"""cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"""	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.2083G>A	X.37:g.40542223C>T	ENSP00000323720:p.Glu695Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4KMR7|Q9UNB3	Missense_Mutation	SNP	pfam_Mediator_Med14	p.E695K	ENST00000324817.1	37	c.2083	CCDS14254.1	X	.	.	.	.	.	.	.	.	.	.	C	13.25	2.181746	0.38511	.	.	ENSG00000180182	ENST00000324817	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.46908	0.1417	L	0.28274	0.84	0.80722	D	1	P	0.37864	0.61	B	0.37989	0.262	T	0.37267	-0.9713	9	0.12766	T	0.61	.	19.0385	0.92989	0.0:1.0:0.0:0.0	.	695	O60244	MED14_HUMAN	K	695	.	ENSP00000323720:E695K	E	-	1	0	MED14	40427167	1.000000	0.71417	0.976000	0.42696	0.503000	0.33858	7.487000	0.81328	2.446000	0.82766	0.594000	0.82650	GAG	MED14	-	NULL	ENSG00000180182		0.413	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MED14	HGNC	protein_coding	OTTHUMT00000060692.1	75	0.00	0	C	NM_004229		40542223	40542223	-1	no_errors	ENST00000324817	ensembl	human	known	69_37n	missense	74	22.11	21	SNP	1.000	T
MED19	219541	genome.wustl.edu	37	11	57472688	57472688	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:57472688C>G	ENST00000431606.2	-	2	260	c.231G>C	c.(229-231)ctG>ctC	p.L77L	MED19_ENST00000337672.2_Silent_p.L77L			A0JLT2	MED19_HUMAN	mediator complex subunit 19	77						mediator complex (GO:0016592)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			cervix(1)|large_intestine(1)|lung(1)|ovary(2)	5						TGCTGCCTGTCAGCTCTGTGC	0.403																																						dbGAP											0													69.0	68.0	69.0					11																	57472688		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			AY148462	CCDS7966.1	11q12.1	2008-02-05	2007-07-30		ENSG00000156603	ENSG00000156603			29600	protein-coding gene	gene with protein product		612385	"""mediator of RNA polymerase II transcription, subunit 19 homolog (S. cerevisiae)"""			9417904	Standard	NM_153450		Approved	LCMR1	uc001nlb.3	A0JLT2	OTTHUMG00000167199	ENST00000431606.2:c.231G>C	11.37:g.57472688C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IV02|Q8IZD1	Silent	SNP	pfam_Mediator_Med19_met,pfam_DNA-dir_RNA_pol1_su_RPA34	p.L77	ENST00000431606.2	37	c.231		11																																																																																			MED19	-	pfam_Mediator_Med19_met	ENSG00000156603		0.403	MED19-002	KNOWN	basic|appris_principal	protein_coding	MED19	HGNC	protein_coding	OTTHUMT00000393702.1	51	0.00	0	C	NM_153450		57472688	57472688	-1	no_errors	ENST00000431606	ensembl	human	known	69_37n	silent	68	25.27	23	SNP	0.993	G
MEF2A	4205	genome.wustl.edu	37	15	100211585	100211585	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:100211585G>C	ENST00000557785.1	+	5	665	c.316G>C	c.(316-318)Gag>Cag	p.E106Q	MEF2A_ENST00000449277.2_Missense_Mutation_p.E38Q|MEF2A_ENST00000558812.1_Missense_Mutation_p.E38Q|MEF2A_ENST00000453228.2_Missense_Mutation_p.E106Q|MEF2A_ENST00000338042.6_Missense_Mutation_p.E106Q|MEF2A_ENST00000557942.1_Missense_Mutation_p.E106Q|MEF2A_ENST00000354410.5_Intron	NM_001171894.1	NP_001165365.1	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	106					apoptotic process (GO:0006915)|cardiac conduction (GO:0061337)|cellular response to calcium ion (GO:0071277)|dendrite morphogenesis (GO:0048813)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|innate immune response (GO:0045087)|MAPK cascade (GO:0000165)|mitochondrial genome maintenance (GO:0000002)|mitochondrion distribution (GO:0048311)|muscle cell differentiation (GO:0042692)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|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)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac myofibril assembly (GO:0055005)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|protein heterodimerization activity (GO:0046982)|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)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)			endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			CGATTACTTTGAGCACAGTCC	0.373																																						dbGAP											0													184.0	172.0	175.0					15																	100211585		1568	3582	5150	-	-	-	SO:0001583	missense	0				CCDS45362.1, CCDS45363.1, CCDS53978.1, CCDS58401.1	15q26	2008-02-05	2007-04-24			ENSG00000068305		"""Myocyte enhancer factors"""	6993	protein-coding gene	gene with protein product		600660				1516833	Standard	NM_005587		Approved	RSRFC4, RSRFC9	uc002bvf.3	Q02078		ENST00000557785.1:c.316G>C	15.37:g.100211585G>C	ENSP00000453441:p.Glu106Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DFQ7|F6XG23|O43814|Q14223|Q14224|Q59GX4|Q7Z6C9|Q96D14	Missense_Mutation	SNP	pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox	p.E106Q	ENST00000557785.1	37	c.316	CCDS53978.1	15	.	.	.	.	.	.	.	.	.	.	G	15.25	2.778110	0.49786	.	.	ENSG00000068305	ENST00000453228;ENST00000338042;ENST00000449277	T;T;T	0.63096	-0.02;-0.02;-0.02	5.54	5.54	0.83059	.	.	.	.	.	T	0.58323	0.2114	N	0.17474	0.49	0.37046	D	0.897357	P;P;P;B	0.42620	0.529;0.785;0.505;0.013	P;P;B;B	0.50378	0.526;0.639;0.379;0.033	T	0.55302	-0.8162	9	0.15499	T	0.54	.	19.8295	0.96630	0.0:0.0:1.0:0.0	.	38;27;106;106	B4DFQ7;Q7Z6C9;Q02078-6;Q02078-2	.;.;.;.	Q	106;106;38	ENSP00000404110:E106Q;ENSP00000337202:E106Q;ENSP00000399460:E38Q	ENSP00000337202:E106Q	E	+	1	0	MEF2A	98029108	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.575000	0.82447	2.763000	0.94921	0.655000	0.94253	GAG	MEF2A	-	pfam_HJURP_C	ENSG00000068305		0.373	MEF2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MEF2A	HGNC	protein_coding	OTTHUMT00000415985.1	133	0.00	0	G			100211585	100211585	+1	no_errors	ENST00000338042	ensembl	human	known	69_37n	missense	85	23.42	26	SNP	1.000	C
MEF2A	4205	genome.wustl.edu	37	15	100250881	100250881	+	Missense_Mutation	SNP	T	T	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:100250881T>C	ENST00000557785.1	+	10	1377	c.1028T>C	c.(1027-1029)tTc>tCc	p.F343S	MEF2A_ENST00000449277.2_Missense_Mutation_p.F275S|MEF2A_ENST00000558812.1_Missense_Mutation_p.F283S|MEF2A_ENST00000453228.2_Missense_Mutation_p.F343S|MEF2A_ENST00000338042.6_Missense_Mutation_p.F352S|MEF2A_ENST00000557942.1_Missense_Mutation_p.F351S|MEF2A_ENST00000354410.5_Missense_Mutation_p.F345S	NM_001171894.1	NP_001165365.1	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	353					apoptotic process (GO:0006915)|cardiac conduction (GO:0061337)|cellular response to calcium ion (GO:0071277)|dendrite morphogenesis (GO:0048813)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|innate immune response (GO:0045087)|MAPK cascade (GO:0000165)|mitochondrial genome maintenance (GO:0000002)|mitochondrion distribution (GO:0048311)|muscle cell differentiation (GO:0042692)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|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)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac myofibril assembly (GO:0055005)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|protein heterodimerization activity (GO:0046982)|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)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)			endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			CTTCAAGGCTTCAACTCGCCA	0.522																																						dbGAP											0													58.0	57.0	57.0					15																	100250881		2008	4183	6191	-	-	-	SO:0001583	missense	0				CCDS45362.1, CCDS45363.1, CCDS53978.1, CCDS58401.1	15q26	2008-02-05	2007-04-24			ENSG00000068305		"""Myocyte enhancer factors"""	6993	protein-coding gene	gene with protein product		600660				1516833	Standard	NM_005587		Approved	RSRFC4, RSRFC9	uc002bvf.3	Q02078		ENST00000557785.1:c.1028T>C	15.37:g.100250881T>C	ENSP00000453441:p.Phe343Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DFQ7|F6XG23|O43814|Q14223|Q14224|Q59GX4|Q7Z6C9|Q96D14	Missense_Mutation	SNP	pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox	p.F352S	ENST00000557785.1	37	c.1055	CCDS53978.1	15	.	.	.	.	.	.	.	.	.	.	T	29.7	5.031291	0.93575	.	.	ENSG00000068305	ENST00000453228;ENST00000354410;ENST00000338042;ENST00000449277	T;T;T	0.29655	1.56;1.56;1.56	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.56140	0.1965	M	0.72353	2.195	0.43622	D	0.996009	D;D;D;D;D;D	0.89917	0.998;0.999;0.99;1.0;0.999;0.997	D;D;D;D;D;D	0.87578	0.995;0.997;0.972;0.997;0.998;0.991	T	0.60115	-0.7326	10	0.87932	D	0	-20.8273	15.8544	0.78965	0.0:0.0:0.0:1.0	.	353;283;264;343;345;351	Q02078;B4DFQ7;Q7Z6C9;Q02078-6;Q02078-5;Q02078-2	MEF2A_HUMAN;.;.;.;.;.	S	343;345;352;283	ENSP00000404110:F343S;ENSP00000346389:F345S;ENSP00000337202:F352S	ENSP00000337202:F352S	F	+	2	0	MEF2A	98068404	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.651000	0.83577	2.147000	0.66899	0.460000	0.39030	TTC	MEF2A	-	NULL	ENSG00000068305		0.522	MEF2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MEF2A	HGNC	protein_coding	OTTHUMT00000415985.1	58	0.00	0	T			100250881	100250881	+1	no_errors	ENST00000338042	ensembl	human	known	69_37n	missense	27	53.45	31	SNP	1.000	C
MEF2D	4209	genome.wustl.edu	37	1	156437897	156437897	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:156437897C>G	ENST00000348159.4	-	11	1922	c.1442G>C	c.(1441-1443)gGa>gCa	p.G481A	MEF2D_ENST00000368240.2_Missense_Mutation_p.G474A|MEF2D_ENST00000340875.5_Missense_Mutation_p.G480A|MEF2D_ENST00000360595.3_Missense_Mutation_p.G474A|MEF2D_ENST00000464356.2_Missense_Mutation_p.G473A|MEF2D_ENST00000353795.3_Missense_Mutation_p.G435A	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	481					adult heart development (GO:0007512)|apoptotic process (GO:0006915)|chondrocyte differentiation (GO:0002062)|endochondral ossification (GO:0001958)|muscle organ development (GO:0007517)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|histone deacetylase binding (GO:0042826)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ATCCCGGTCTCCCGTCTCATA	0.706																																						dbGAP											0													37.0	40.0	39.0					1																	156437897		2203	4298	6501	-	-	-	SO:0001583	missense	0			BC054520	CCDS1143.1, CCDS60304.1	1q12-q23	2008-02-05	2007-04-24		ENSG00000116604	ENSG00000116604		"""Myocyte enhancer factors"""	6997	protein-coding gene	gene with protein product		600663				8269842	Standard	NM_005920		Approved		uc001fpb.4	Q14814	OTTHUMG00000033095	ENST00000348159.4:c.1442G>C	1.37:g.156437897C>G	ENSP00000271555:p.Gly481Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DVC0|Q14815|Q5T9U5|Q5T9U6	Missense_Mutation	SNP	pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox	p.G481A	ENST00000348159.4	37	c.1442	CCDS1143.1	1	.	.	.	.	.	.	.	.	.	.	C	9.789	1.177390	0.21787	.	.	ENSG00000116604	ENST00000348159;ENST00000340875;ENST00000368240;ENST00000353795;ENST00000360595;ENST00000454816	T;T;T;T;T;T	0.58797	0.31;0.31;0.31;0.71;0.31;0.32	3.83	3.83	0.44106	.	0.316302	0.31884	N	0.006911	T	0.19644	0.0472	N	0.08118	0	0.31454	N	0.670369	B;B;P	0.37207	0.451;0.278;0.587	B;B;B	0.36464	0.112;0.112;0.225	T	0.12372	-1.0550	10	0.72032	D	0.01	-12.7162	8.4775	0.33023	0.0:0.8901:0.0:0.1099	.	486;481;474	Q4LE66;Q14814;Q14814-4	.;MEF2D_HUMAN;.	A	481;480;474;435;474;473	ENSP00000271555:G481A;ENSP00000343159:G480A;ENSP00000357223:G474A;ENSP00000344705:G435A;ENSP00000353803:G474A;ENSP00000388505:G473A	ENSP00000343159:G480A	G	-	2	0	MEF2D	154704521	1.000000	0.71417	1.000000	0.80357	0.405000	0.30901	2.296000	0.43584	1.979000	0.57680	0.313000	0.20887	GGA	MEF2D	-	NULL	ENSG00000116604		0.706	MEF2D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MEF2D	HGNC	protein_coding	OTTHUMT00000080562.2	20	0.00	0	C	NM_005920		156437897	156437897	-1	no_errors	ENST00000348159	ensembl	human	known	69_37n	missense	23	17.86	5	SNP	1.000	G
MEGF10	84466	genome.wustl.edu	37	5	126746149	126746149	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:126746149G>C	ENST00000274473.6	+	10	1253	c.986G>C	c.(985-987)gGa>gCa	p.G329A	MEGF10_ENST00000503335.2_Missense_Mutation_p.G329A|MEGF10_ENST00000508365.1_Missense_Mutation_p.G329A|MEGF10_ENST00000418761.2_Missense_Mutation_p.G329A	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	329	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		TGTGTCAACGGAGGGAAGTGT	0.592																																						dbGAP											0													124.0	103.0	110.0					5																	126746149		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.986G>C	5.37:g.126746149G>C	ENSP00000274473:p.Gly329Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DE5|Q8WUL3	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_EGF_extracell,superfamily_Proteinase_amylase_inhib_dom,smart_EGF-like,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain	p.G329A	ENST00000274473.6	37	c.986	CCDS4142.1	5	.	.	.	.	.	.	.	.	.	.	G	21.3	4.129403	0.77549	.	.	ENSG00000145794	ENST00000503335;ENST00000508365;ENST00000418761;ENST00000274473	T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13	5.93	5.93	0.95920	EGF-like, laminin (2);Epidermal growth factor-like, type 3 (1);	0.146541	0.46758	D	0.000279	D	0.91153	0.7214	M	0.91768	3.24	0.58432	D	0.999996	D;D	0.76494	0.999;0.999	D;D	0.76071	0.987;0.977	D	0.91837	0.5480	10	0.66056	D	0.02	-14.0565	20.3539	0.98825	0.0:0.0:1.0:0.0	.	329;329	Q96KG7-2;Q96KG7	.;MEG10_HUMAN	A	329	ENSP00000423354:G329A;ENSP00000423195:G329A;ENSP00000416284:G329A;ENSP00000274473:G329A	ENSP00000274473:G329A	G	+	2	0	MEGF10	126774048	1.000000	0.71417	0.968000	0.41197	0.811000	0.45836	5.668000	0.68074	2.826000	0.97356	0.655000	0.94253	GGA	MEGF10	-	pfam_EGF_laminin,smart_EGF-like,smart_EGF_laminin,pfscan_EG-like_dom	ENSG00000145794		0.592	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEGF10	HGNC	protein_coding	OTTHUMT00000250973.2	104	0.00	0	G	NM_032446		126746149	126746149	+1	no_errors	ENST00000274473	ensembl	human	known	69_37n	missense	102	19.69	25	SNP	0.998	C
MEI1	150365	genome.wustl.edu	37	22	42128505	42128505	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:42128505C>A	ENST00000401548.3	+	11	1269	c.1229C>A	c.(1228-1230)tCa>tAa	p.S410*	MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000400107.1_5'UTR|MEI1_ENST00000540833.1_Nonsense_Mutation_p.S150*	NM_152513.3	NP_689726.3			meiosis inhibitor 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TTCACAAGCTCAGCCATGTGC	0.552																																						dbGAP											0													72.0	73.0	73.0					22																	42128505		2106	4234	6340	-	-	-	SO:0001587	stop_gained	0			AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"""spermatogenesis associated 38"""	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.1229C>A	22.37:g.42128505C>A	ENSP00000384115:p.Ser410*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	superfamily_ARM-type_fold	p.S410*	ENST00000401548.3	37	c.1229	CCDS46718.1	22	.	.	.	.	.	.	.	.	.	.	C	36	5.668228	0.96745	.	.	ENSG00000167077	ENST00000401548;ENST00000540833	.	.	.	5.67	4.66	0.58398	.	0.473787	0.20162	N	0.097927	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.6199	6.0136	0.19589	0.1396:0.6492:0.1352:0.076	.	.	.	.	X	410;150	.	ENSP00000384115:S410X	S	+	2	0	MEI1	40458451	0.389000	0.25205	1.000000	0.80357	0.976000	0.68499	0.401000	0.20948	2.682000	0.91365	0.563000	0.77884	TCA	MEI1	-	superfamily_ARM-type_fold	ENSG00000167077		0.552	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MEI1	HGNC	protein_coding	OTTHUMT00000074937.3	47	0.00	0	C	NM_152513		42128505	42128505	+1	no_errors	ENST00000401548	ensembl	human	known	69_37n	nonsense	75	15.73	14	SNP	0.928	A
MEIS2	4212	genome.wustl.edu	37	15	37376049	37376049	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:37376049G>C	ENST00000561208.1	-	7	1095	c.677C>G	c.(676-678)tCa>tGa	p.S226*	MEIS2_ENST00000444725.1_Nonsense_Mutation_p.S226*|MEIS2_ENST00000559561.1_Nonsense_Mutation_p.S226*|MEIS2_ENST00000219869.9_Nonsense_Mutation_p.S80*|MEIS2_ENST00000424352.2_Nonsense_Mutation_p.S226*|MEIS2_ENST00000382766.2_Nonsense_Mutation_p.S226*|MEIS2_ENST00000557796.2_Nonsense_Mutation_p.S213*|MEIS2_ENST00000397624.3_Nonsense_Mutation_p.S138*|MEIS2_ENST00000397620.2_Nonsense_Mutation_p.S138*|MEIS2_ENST00000338564.5_Nonsense_Mutation_p.S226*|MEIS2_ENST00000340545.5_Nonsense_Mutation_p.S213*|MEIS2_ENST00000559085.1_Nonsense_Mutation_p.S213*			O14770	MEIS2_HUMAN	Meis homeobox 2	226	Ser/Thr-rich.				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)		TGAGTGGGTTGAGGTTGCATC	0.512																																						dbGAP											0													109.0	99.0	102.0					15																	37376049		2201	4297	6498	-	-	-	SO:0001587	stop_gained	0			AF017418	CCDS10044.1, CCDS10045.1, CCDS42014.1, CCDS45217.1, CCDS45218.1, CCDS45219.1, CCDS45220.1	15q14	2011-06-20	2007-02-15		ENSG00000134138	ENSG00000134138		"""Homeoboxes / TALE class"""	7001	protein-coding gene	gene with protein product		601740	"""Meis (mouse) homolog 2"", ""Meis1, myeloid ecotropic viral integration site 1 homolog 2 (mouse)"""			9383298	Standard	NM_172315		Approved	MRG1, HsT18361	uc001zjr.4	O14770	OTTHUMG00000129781	ENST00000561208.1:c.677C>G	15.37:g.37376049G>C	ENSP00000453793:p.Ser226*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJI5|A8MWD5|B3KP98|B3KPQ6|Q96DI2|Q96KI4|Q96KI5|Q9NRS1|Q9NRS2|Q9NRS3	Nonsense_Mutation	SNP	pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.S226*	ENST00000561208.1	37	c.677	CCDS10044.1	15	.	.	.	.	.	.	.	.	.	.	G	37	6.503538	0.97620	.	.	ENSG00000134138	ENST00000314177;ENST00000338564;ENST00000382766;ENST00000424352;ENST00000444725;ENST00000340545;ENST00000397624;ENST00000397620;ENST00000219869	.	.	.	6.16	5.25	0.73442	.	0.053563	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-1.2379	15.682	0.77376	0.0653:0.0:0.9347:0.0	.	.	.	.	X	226;226;226;226;226;213;213;138;80	.	ENSP00000219869:S80X	S	-	2	0	MEIS2	35163341	1.000000	0.71417	0.988000	0.46212	0.988000	0.76386	9.869000	0.99810	1.626000	0.50381	0.650000	0.86243	TCA	MEIS2	-	NULL	ENSG00000134138		0.512	MEIS2-001	KNOWN	basic|CCDS	protein_coding	MEIS2	HGNC	protein_coding	OTTHUMT00000252003.2	96	0.00	0	G	NM_170677		37376049	37376049	-1	no_errors	ENST00000561208	ensembl	human	known	69_37n	nonsense	86	20.37	22	SNP	1.000	C
MEN1	4221	genome.wustl.edu	37	11	64571837	64571837	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:64571837G>C	ENST00000337652.1	-	10	2320	c.1817C>G	c.(1816-1818)tCt>tGt	p.S606C	MAP4K2_ENST00000377350.3_5'Flank|MEN1_ENST00000394374.2_Missense_Mutation_p.S606C|MEN1_ENST00000312049.6_Missense_Mutation_p.S601C|MAP4K2_ENST00000294066.2_5'Flank|MEN1_ENST00000377313.1_Missense_Mutation_p.S606C|MEN1_ENST00000478548.1_5'Flank|MEN1_ENST00000377316.2_Missense_Mutation_p.S546C|MEN1_ENST00000315422.4_Missense_Mutation_p.S601C|MEN1_ENST00000443283.1_Missense_Mutation_p.S606C|MEN1_ENST00000377326.3_Missense_Mutation_p.S601C|MEN1_ENST00000394376.1_Missense_Mutation_p.S606C|MAP4K2_ENST00000468062.1_5'Flank|MEN1_ENST00000377321.1_Missense_Mutation_p.S566C	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	606					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						CTTGAGGAAAGACAGAGTGTA	0.572			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated																												Esophageal Squamous(1;83 158 15500 18603 18803 29295)	dbGAP	yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	multiple endocrine neoplasia type 1 gene		E	0													183.0	173.0	176.0					11																	64571837		2201	4297	6498	-	-	-	SO:0001583	missense	0	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"""menin"""	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.1817C>G	11.37:g.64571837G>C	ENSP00000337088:p.Ser606Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	pfam_Menin	p.S606C	ENST00000337652.1	37	c.1817	CCDS8083.1	11	.	.	.	.	.	.	.	.	.	.	G	20.4	3.985623	0.74589	.	.	ENSG00000133895	ENST00000377316;ENST00000377321;ENST00000377326;ENST00000312049;ENST00000315422;ENST00000337652;ENST00000394376;ENST00000394374;ENST00000443283;ENST00000377313	D;D;D;D;D;D;D;D;D;D	0.99494	-6.01;-6.01;-6.01;-6.01;-6.01;-6.01;-6.01;-6.01;-6.01;-6.01	4.57	4.57	0.56435	.	0.381500	0.26453	N	0.024286	D	0.98909	0.9630	L	0.38175	1.15	0.40035	D	0.975576	D;D;D	0.63046	0.965;0.986;0.992	P;D;P	0.69654	0.634;0.965;0.82	D	0.98519	1.0622	10	0.51188	T	0.08	-18.7899	11.235	0.48936	0.0:0.186:0.814:0.0	.	601;566;606	O00255-2;O00255-3;O00255	.;.;MEN1_HUMAN	C	546;566;601;601;601;606;606;606;606;606	ENSP00000366533:S546C;ENSP00000366538:S566C;ENSP00000366543:S601C;ENSP00000308975:S601C;ENSP00000323747:S601C;ENSP00000337088:S606C;ENSP00000377901:S606C;ENSP00000377899:S606C;ENSP00000396940:S606C;ENSP00000366530:S606C	ENSP00000308975:S601C	S	-	2	0	MEN1	64328413	1.000000	0.71417	0.200000	0.23457	0.978000	0.69477	6.398000	0.73244	2.270000	0.75569	0.555000	0.69702	TCT	MEN1	-	pfam_Menin	ENSG00000133895		0.572	MEN1-201	KNOWN	basic|CCDS	protein_coding	MEN1	HGNC	protein_coding	OTTHUMT00000143881.1	66	0.00	0	G			64571837	64571837	-1	no_errors	ENST00000337652	ensembl	human	known	69_37n	missense	121	15.97	23	SNP	0.994	C
MEN1	4221	genome.wustl.edu	37	11	64577258	64577259	+	Missense_Mutation	DNP	TC	TC	AG			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	T|C	T|C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:64577258_64577259TC>AG	ENST00000337652.1	-	2	826_827	c.323_324GA>CT	c.(322-324)cGA>cCT	p.R108P	MEN1_ENST00000394374.2_Missense_Mutation_p.R108P|MEN1_ENST00000312049.6_Missense_Mutation_p.R108P|MEN1_ENST00000377313.1_Missense_Mutation_p.R108P|MEN1_ENST00000377316.2_Missense_Mutation_p.R108P|MEN1_ENST00000315422.4_Missense_Mutation_p.R108P|MEN1_ENST00000443283.1_Missense_Mutation_p.R108P|MEN1_ENST00000377326.3_Missense_Mutation_p.R108P|MEN1_ENST00000394376.1_Missense_Mutation_p.R108P|MEN1_ENST00000377321.1_Missense_Mutation_p.R108P	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	108					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)	p.R108L(1)		NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						CACCCCCTTCTCGAGGATAGAG	0.609			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated																												Esophageal Squamous(1;83 158 15500 18603 18803 29295)	dbGAP	yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	multiple endocrine neoplasia type 1 gene		E	1	Substitution - Missense(1)	lung(1)																																								-	-	-	SO:0001583	missense	0	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"""menin"""	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.323_324delinsAG	11.37:g.64577258_64577259delinsAG	ENSP00000337088:p.Arg108Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Silent|Missense_Mutation	SNP	pfam_Menin	p.R108|p.R108P	ENST00000337652.1	37	c.324|c.323	CCDS8083.1	11																																																																																			MEN1	-	pfam_Menin	ENSG00000133895		0.609	MEN1-201	KNOWN	basic|CCDS	protein_coding	MEN1	HGNC	protein_coding	OTTHUMT00000143881.1	46	0.00	0	T|C			64577258|64577259	64577258|64577259	-1	no_errors	ENST00000337652	ensembl	human	known	69_37n	silent|missense	49|51	46.74|46.32	43|44	SNP	0.968|0.992	A|G
MERTK	10461	genome.wustl.edu	37	2	112779916	112779916	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:112779916G>C	ENST00000295408.4	+	18	2688	c.2431G>C	c.(2431-2433)Gac>Cac	p.D811H	MERTK_ENST00000421804.2_Missense_Mutation_p.D811H|MERTK_ENST00000409780.1_Missense_Mutation_p.D635H			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	811	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						TGAGATGTATGACTATCTTCT	0.537																																						dbGAP											0													161.0	127.0	139.0					2																	112779916		2203	4300	6503	-	-	-	SO:0001583	missense	0			U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7027	protein-coding gene	gene with protein product		604705	"""c-mer proto-oncogene tyrosine kinase"""			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.2431G>C	2.37:g.112779916G>C	ENSP00000295408:p.Asp811His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9HBB4	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Rhodanese-like_dom,smart_Ig_sub,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,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D811H	ENST00000295408.4	37	c.2431	CCDS2094.1	2	.	.	.	.	.	.	.	.	.	.	G	21.2	4.112254	0.77210	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000393237;ENST00000409780;ENST00000449344	D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65	5.42	5.42	0.78866	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.35262	U	0.003333	D	0.86768	0.6012	N	0.26042	0.785	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.88117	0.2829	10	0.72032	D	0.01	-26.1332	19.598	0.95548	0.0:0.0:1.0:0.0	.	811	Q12866	MERTK_HUMAN	H	811;811;447;635;135	ENSP00000295408:D811H;ENSP00000389152:D811H;ENSP00000387277:D635H;ENSP00000412660:D135H	ENSP00000295408:D811H	D	+	1	0	MERTK	112496387	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.711000	0.92665	0.655000	0.94253	GAC	MERTK	-	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	ENSG00000153208		0.537	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MERTK	HGNC	protein_coding	OTTHUMT00000254046.2	83	0.00	0	G			112779916	112779916	+1	no_errors	ENST00000295408	ensembl	human	known	69_37n	missense	81	20.59	21	SNP	1.000	C
MET	4233	genome.wustl.edu	37	7	116395450	116395450	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:116395450G>A	ENST00000318493.6	+	6	1930	c.1743G>A	c.(1741-1743)ctG>ctA	p.L581L	MET_ENST00000436117.2_Silent_p.L581L|MET_ENST00000397752.3_Silent_p.L581L|MET_ENST00000495962.1_3'UTR			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0	Arg/Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			GGACAAGGCTGACCATATGTG	0.358			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													dbGAP		Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	0													87.0	83.0	84.0					7																	116395450		1809	4083	5892	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.1743G>A	7.37:g.116395450G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Silent	SNP	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semaphorin/CD100_Ag,pfscan_Prot_kinase_cat_dom	p.L581	ENST00000318493.6	37	c.1743	CCDS47689.1	7																																																																																			MET	-	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt	ENSG00000105976		0.358	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MET	HGNC	protein_coding	OTTHUMT00000059620.3	93	0.00	0	G			116395450	116395450	+1	no_errors	ENST00000318493	ensembl	human	known	69_37n	silent	65	36.89	38	SNP	0.996	A
MET	4233	genome.wustl.edu	37	7	116411936	116411936	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:116411936G>C	ENST00000318493.6	+	14	3162	c.2975G>C	c.(2974-2976)aGa>aCa	p.R992T	MET_ENST00000397752.3_Missense_Mutation_p.R974T			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.L982_D1028del(3)|p.D981_D1028del(1)|p.982_1028del47(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TACGATGCAAGAGTACACACT	0.443			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													dbGAP		Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	5	Deletion - In frame(4)|Unknown(1)	lung(5)											80.0	75.0	77.0					7																	116411936		1886	4101	5987	-	-	-	SO:0001583	missense	0	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.2975G>C	7.37:g.116411936G>C	ENSP00000317272:p.Arg992Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semaphorin/CD100_Ag,pfscan_Prot_kinase_cat_dom	p.R992T	ENST00000318493.6	37	c.2975	CCDS47689.1	7	.	.	.	.	.	.	.	.	.	.	G	26.0	4.698514	0.88830	.	.	ENSG00000105976	ENST00000397752;ENST00000318493	T;T	0.74106	-0.8;-0.81	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.80160	0.4572	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;0.994	D;D	0.91635	0.999;0.985	T	0.80589	-0.1315	10	0.52906	T	0.07	.	20.3242	0.98691	0.0:0.0:1.0:0.0	.	992;974	P08581-2;P08581	.;MET_HUMAN	T	974;992	ENSP00000380860:R974T;ENSP00000317272:R992T	ENSP00000317272:R992T	R	+	2	0	MET	116199172	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.401000	0.79962	2.882000	0.98803	0.655000	0.94253	AGA	MET	-	pirsf_Tyr_kinase_HGF/MSP_rcpt	ENSG00000105976		0.443	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MET	HGNC	protein_coding	OTTHUMT00000059620.3	50	0.00	0	G			116411936	116411936	+1	no_errors	ENST00000318493	ensembl	human	known	69_37n	missense	48	22.58	14	SNP	1.000	C
METAP1	23173	genome.wustl.edu	37	4	99956581	99956581	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:99956581C>G	ENST00000296411.6	+	4	444	c.310C>G	c.(310-312)Caa>Gaa	p.Q104E	METAP1_ENST00000506548.1_3'UTR|METAP1_ENST00000544031.1_Missense_Mutation_p.Q54E	NM_015143.2	NP_055958.2	P53582	MAP11_HUMAN	methionyl aminopeptidase 1	104					N-terminal protein amino acid modification (GO:0031365)|peptidyl-methionine modification (GO:0018206)|phototransduction, visible light (GO:0007603)|platelet aggregation (GO:0070527)|protein initiator methionine removal (GO:0070084)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of translation (GO:0006417)|rhodopsin mediated signaling pathway (GO:0016056)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic ribosome (GO:0022626)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metalloaminopeptidase activity (GO:0070006)|metalloexopeptidase activity (GO:0008235)			endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(123;3.12e-07)		AAGTTATATTCAAAGACCAGA	0.368																																						dbGAP											0													316.0	247.0	268.0					4																	99956581		692	1591	2283	-	-	-	SO:0001583	missense	0			D42084	CCDS47110.1	4q23	2010-08-20			ENSG00000164024	ENSG00000164024	3.4.11.18		15789	protein-coding gene	gene with protein product	"""Peptidase M"""	610151				7788527, 12144506	Standard	NM_015143		Approved	KIAA0094, MetAP1A, MAP1A	uc003huf.4	P53582	OTTHUMG00000161231	ENST00000296411.6:c.310C>G	4.37:g.99956581C>G	ENSP00000296411:p.Gln104Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E2E6	Missense_Mutation	SNP	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,prints_Pept_M24_MAP,tigrfam_Pept_M24A_MAP1	p.Q104E	ENST00000296411.6	37	c.310	CCDS47110.1	4	.	.	.	.	.	.	.	.	.	.	C	11.99	1.804073	0.31869	.	.	ENSG00000164024	ENST00000296411;ENST00000544031	.	.	.	4.49	4.49	0.54785	Peptidase M24, structural domain (2);	0.000000	0.85682	D	0.000000	T	0.41994	0.1183	N	0.17082	0.46	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.23797	-1.0178	8	.	.	.	-20.603	17.7346	0.88389	0.0:1.0:0.0:0.0	.	104	P53582	AMPM1_HUMAN	E	104;54	.	.	Q	+	1	0	METAP1	100175604	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.711000	0.74675	2.489000	0.83994	0.650000	0.86243	CAA	METAP1	-	superfamily_Pept_M24_structural-domain	ENSG00000164024		0.368	METAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METAP1	HGNC	protein_coding	OTTHUMT00000364237.1	208	0.48	1	C	NM_015143		99956581	99956581	+1	no_errors	ENST00000296411	ensembl	human	known	69_37n	missense	155	22.77	46	SNP	1.000	G
METAP1	23173	genome.wustl.edu	37	4	99962254	99962254	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:99962254G>T	ENST00000296411.6	+	6	627	c.493G>T	c.(493-495)Gaa>Taa	p.E165*	METAP1_ENST00000544031.1_Nonsense_Mutation_p.E115*	NM_015143.2	NP_055958.2	P53582	MAP11_HUMAN	methionyl aminopeptidase 1	165					N-terminal protein amino acid modification (GO:0031365)|peptidyl-methionine modification (GO:0018206)|phototransduction, visible light (GO:0007603)|platelet aggregation (GO:0070527)|protein initiator methionine removal (GO:0070084)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of translation (GO:0006417)|rhodopsin mediated signaling pathway (GO:0016056)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic ribosome (GO:0022626)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metalloaminopeptidase activity (GO:0070006)|metalloexopeptidase activity (GO:0008235)			endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(123;3.12e-07)		AACTACTGAAGAAATAGATCA	0.328																																						dbGAP											0													110.0	108.0	109.0					4																	99962254		1835	4093	5928	-	-	-	SO:0001587	stop_gained	0			D42084	CCDS47110.1	4q23	2010-08-20			ENSG00000164024	ENSG00000164024	3.4.11.18		15789	protein-coding gene	gene with protein product	"""Peptidase M"""	610151				7788527, 12144506	Standard	NM_015143		Approved	KIAA0094, MetAP1A, MAP1A	uc003huf.4	P53582	OTTHUMG00000161231	ENST00000296411.6:c.493G>T	4.37:g.99962254G>T	ENSP00000296411:p.Glu165*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E2E6	Nonsense_Mutation	SNP	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,prints_Pept_M24_MAP,tigrfam_Pept_M24A_MAP1	p.E165*	ENST00000296411.6	37	c.493	CCDS47110.1	4	.	.	.	.	.	.	.	.	.	.	G	23.4	4.405923	0.83230	.	.	ENSG00000164024	ENST00000296411;ENST00000544031	.	.	.	4.7	3.86	0.44501	.	0.049145	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-22.9314	13.0	0.58670	0.0776:0.0:0.9224:0.0	.	.	.	.	X	165;115	.	.	E	+	1	0	METAP1	100181277	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.814000	0.91968	1.341000	0.45600	0.585000	0.79938	GAA	METAP1	-	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,tigrfam_Pept_M24A_MAP1	ENSG00000164024		0.328	METAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METAP1	HGNC	protein_coding	OTTHUMT00000364237.1	134	0.00	0	G	NM_015143		99962254	99962254	+1	no_errors	ENST00000296411	ensembl	human	known	69_37n	nonsense	90	22.41	26	SNP	1.000	T
METAP1	23173	genome.wustl.edu	37	4	99964478	99964478	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:99964478G>T	ENST00000296411.6	+	7	729	c.595G>T	c.(595-597)Gaa>Taa	p.E199*	METAP1_ENST00000544031.1_Nonsense_Mutation_p.E149*	NM_015143.2	NP_055958.2	P53582	MAP11_HUMAN	methionyl aminopeptidase 1	199					N-terminal protein amino acid modification (GO:0031365)|peptidyl-methionine modification (GO:0018206)|phototransduction, visible light (GO:0007603)|platelet aggregation (GO:0070527)|protein initiator methionine removal (GO:0070084)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of translation (GO:0006417)|rhodopsin mediated signaling pathway (GO:0016056)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic ribosome (GO:0022626)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metalloaminopeptidase activity (GO:0070006)|metalloexopeptidase activity (GO:0008235)			endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(123;3.12e-07)		CTCAGTGAATGAAGTCATTTG	0.353																																						dbGAP											0													66.0	57.0	60.0					4																	99964478		1857	4092	5949	-	-	-	SO:0001587	stop_gained	0			D42084	CCDS47110.1	4q23	2010-08-20			ENSG00000164024	ENSG00000164024	3.4.11.18		15789	protein-coding gene	gene with protein product	"""Peptidase M"""	610151				7788527, 12144506	Standard	NM_015143		Approved	KIAA0094, MetAP1A, MAP1A	uc003huf.4	P53582	OTTHUMG00000161231	ENST00000296411.6:c.595G>T	4.37:g.99964478G>T	ENSP00000296411:p.Glu199*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E2E6	Nonsense_Mutation	SNP	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,prints_Pept_M24_MAP,tigrfam_Pept_M24A_MAP1	p.E199*	ENST00000296411.6	37	c.595	CCDS47110.1	4	.	.	.	.	.	.	.	.	.	.	G	31	5.070335	0.93950	.	.	ENSG00000164024	ENST00000296411;ENST00000544031;ENST00000510133	.	.	.	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-25.6867	18.1218	0.89573	0.0:0.0:1.0:0.0	.	.	.	.	X	199;149;27	.	.	E	+	1	0	METAP1	100183501	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.398000	0.97281	2.572000	0.86782	0.655000	0.94253	GAA	METAP1	-	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,prints_Pept_M24_MAP,tigrfam_Pept_M24A_MAP1	ENSG00000164024		0.353	METAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METAP1	HGNC	protein_coding	OTTHUMT00000364237.1	112	0.00	0	G	NM_015143		99964478	99964478	+1	no_errors	ENST00000296411	ensembl	human	known	69_37n	nonsense	43	55.67	54	SNP	1.000	T
METRN	79006	genome.wustl.edu	37	16	766959	766959	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:766959G>C	ENST00000568223.2	+	3	707	c.532G>C	c.(532-534)Gag>Cag	p.E178Q	METRN_ENST00000568415.1_Missense_Mutation_p.E45Q	NM_024042.2	NP_076947.1	Q9UJH8	METRN_HUMAN	meteorin, glial cell differentiation regulator	178					glial cell differentiation (GO:0010001)|positive regulation of axonogenesis (GO:0050772)	extracellular space (GO:0005615)				skin(1)	1		Hepatocellular(780;0.00335)				CAGCGACGCTGAGCTGCTCCT	0.697																																						dbGAP											0													27.0	30.0	29.0					16																	766959		2194	4292	6486	-	-	-	SO:0001583	missense	0			BC000662	CCDS10422.1	16p13.3	2008-02-05	2004-11-26	2004-12-01	ENSG00000103260	ENSG00000103260			14151	protein-coding gene	gene with protein product		610998	"""chromosome 16 open reading frame 23"""	C16orf23		15085178	Standard	NM_024042		Approved	MGC2601	uc002cjd.3	Q9UJH8	OTTHUMG00000047851	ENST00000568223.2:c.532G>C	16.37:g.766959G>C	ENSP00000455068:p.Glu178Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UJH9	Missense_Mutation	SNP	NULL	p.E178Q	ENST00000568223.2	37	c.532	CCDS10422.1	16	.	.	.	.	.	.	.	.	.	.	G	14.05	2.419408	0.42918	.	.	ENSG00000103260	ENST00000219542	.	.	.	4.25	4.25	0.50352	.	0.129164	0.51477	D	0.000087	T	0.62417	0.2426	M	0.84082	2.675	0.44302	D	0.997178	P	0.50272	0.933	P	0.45037	0.467	T	0.70306	-0.4908	9	0.87932	D	0	-9.9466	10.1661	0.42882	0.0:0.203:0.797:0.0	.	178	Q9UJH8	METRN_HUMAN	Q	178	.	ENSP00000219542:E178Q	E	+	1	0	METRN	706960	1.000000	0.71417	0.799000	0.32177	0.207000	0.24258	4.954000	0.63631	2.212000	0.71576	0.558000	0.71614	GAG	METRN	-	NULL	ENSG00000103260		0.697	METRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METRN	HGNC	protein_coding	OTTHUMT00000109074.4	12	0.00	0	G	NM_024042		766959	766959	+1	no_errors	ENST00000568223	ensembl	human	known	69_37n	missense	20	23.08	6	SNP	0.962	C
METRNL	284207	genome.wustl.edu	37	17	81042910	81042910	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:81042910C>G	ENST00000320095.7	+	2	392	c.267C>G	c.(265-267)ctC>ctG	p.L89L	METRNL_ENST00000570778.1_Silent_p.L7L|METRNL_ENST00000571814.1_Silent_p.L7L	NM_001004431.1	NP_001004431.1	Q641Q3	METRL_HUMAN	meteorin, glial cell differentiation regulator-like	89					brown fat cell differentiation (GO:0050873)|fat cell differentiation (GO:0045444)|negative regulation of inflammatory response (GO:0050728)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of energy homeostasis (GO:2000507)|response to cold (GO:0009409)|response to muscle activity (GO:0014850)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone activity (GO:0005179)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)		BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			CAGGTGCTCTCATCGTTAACC	0.612																																						dbGAP											0													139.0	135.0	136.0					17																	81042910		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK093748	CCDS32779.1	17q25.3	2004-12-01				ENSG00000176845			27584	protein-coding gene	gene with protein product							Standard	NM_001004431		Approved		uc002kgh.3	Q641Q3		ENST00000320095.7:c.267C>G	17.37:g.81042910C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KSJ5|Q86VM0	Silent	SNP	NULL	p.L89	ENST00000320095.7	37	c.267	CCDS32779.1	17																																																																																			METRNL	-	NULL	ENSG00000176845		0.612	METRNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METRNL	HGNC	protein_coding	OTTHUMT00000438902.1	69	0.00	0	C	NM_001004431		81042910	81042910	+1	no_errors	ENST00000320095	ensembl	human	known	69_37n	silent	82	16.33	16	SNP	1.000	G
METTL14	57721	genome.wustl.edu	37	4	119618419	119618419	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:119618419G>A	ENST00000388822.5	+	7	753	c.586G>A	c.(586-588)Gaa>Aaa	p.E196K	METTL14_ENST00000506780.1_Missense_Mutation_p.E158K			Q9HCE5	MET14_HUMAN	methyltransferase like 14	196					mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						ACCCCCTTTAGAAGAATATTA	0.338																																						dbGAP											0													64.0	67.0	66.0					4																	119618419		2203	4298	6501	-	-	-	SO:0001583	missense	0			AB046847	CCDS34053.1	4q26	2009-02-24			ENSG00000145388	ENSG00000145388			29330	protein-coding gene	gene with protein product						10997877	Standard	NM_020961		Approved	KIAA1627	uc003icf.3	Q9HCE5	OTTHUMG00000161167	ENST00000388822.5:c.586G>A	4.37:g.119618419G>A	ENSP00000373474:p.Glu196Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NIG1|Q969V2	Missense_Mutation	SNP	pfam_MT-A70-like,pfscan_MT-A70-like	p.E196K	ENST00000388822.5	37	c.586	CCDS34053.1	4	.	.	.	.	.	.	.	.	.	.	g	21.1	4.095572	0.76870	.	.	ENSG00000145388	ENST00000388822;ENST00000506780	T;T	0.43688	0.94;0.94	4.96	4.12	0.48240	.	0.045730	0.85682	D	0.000000	T	0.51346	0.1669	L	0.33137	0.985	0.80722	D	1	D;D	0.76494	0.994;0.999	D;D	0.69824	0.943;0.966	T	0.51585	-0.8687	10	0.46703	T	0.11	-5.5794	13.9491	0.64104	0.0751:0.0:0.9249:0.0	.	158;196	D6RBL4;Q9HCE5	.;MTL14_HUMAN	K	196;158	ENSP00000373474:E196K;ENSP00000424111:E158K	ENSP00000373474:E196K	E	+	1	0	METTL14	119837867	1.000000	0.71417	0.982000	0.44146	0.897000	0.52465	8.977000	0.93446	1.406000	0.46857	0.462000	0.41574	GAA	METTL14	-	pfam_MT-A70-like,pfscan_MT-A70-like	ENSG00000145388		0.338	METTL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL14	HGNC	protein_coding	OTTHUMT00000364034.3	105	0.00	0	G	NM_020961		119618419	119618419	+1	no_errors	ENST00000388822	ensembl	human	known	69_37n	missense	73	27.00	27	SNP	1.000	A
METTL16	79066	genome.wustl.edu	37	17	2367524	2367524	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:2367524G>C	ENST00000263092.6	-	6	833	c.706C>G	c.(706-708)Cta>Gta	p.L236V	METTL16_ENST00000538844.1_Missense_Mutation_p.L18V|METTL16_ENST00000571669.2_5'UTR	NM_024086.3	NP_076991.3	Q86W50	MET16_HUMAN	methyltransferase like 16	236							methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						TTAAGTTGTAGACTGTCATGG	0.373																																						dbGAP											0													161.0	152.0	155.0					17																	2367524		1866	4097	5963	-	-	-	SO:0001583	missense	0			AK027410	CCDS42232.1	17p13.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000127804	ENSG00000127804			28484	protein-coding gene	gene with protein product			"""methyltransferase 10 domain containing"""	METT10D		18021804	Standard	NM_024086		Approved	MGC3329	uc002fut.3	Q86W50		ENST00000263092.6:c.706C>G	17.37:g.2367524G>C	ENSP00000263092:p.Leu236Val	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTI8|Q86TE5|Q96T16|Q9BVG7	Missense_Mutation	SNP	pfam_rRNA_lsu_MeTfrase_F-like,pirsf_S-AdoMet-dep_MeTrfase_Mett10D	p.L236V	ENST00000263092.6	37	c.706	CCDS42232.1	17	.	.	.	.	.	.	.	.	.	.	G	17.14	3.312305	0.60414	.	.	ENSG00000127804	ENST00000263092;ENST00000538844	T;T	0.49720	0.9;0.77	5.68	3.46	0.39613	.	0.000000	0.85682	D	0.000000	T	0.39226	0.1070	N	0.11255	0.115	0.58432	D	0.999997	P	0.41597	0.756	P	0.53988	0.739	T	0.26018	-1.0115	10	0.46703	T	0.11	.	7.0344	0.24985	0.7352:0.0:0.2648:0.0	.	236	Q86W50	MET16_HUMAN	V	236;18	ENSP00000263092:L236V;ENSP00000443633:L18V	ENSP00000263092:L236V	L	-	1	2	METTL16	2314274	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.734000	0.55037	0.431000	0.26258	-0.482000	0.04802	CTA	METTL16	-	pfam_rRNA_lsu_MeTfrase_F-like,pirsf_S-AdoMet-dep_MeTrfase_Mett10D	ENSG00000127804		0.373	METTL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL16	HGNC	protein_coding	OTTHUMT00000437653.2	161	0.00	0	G	NM_024086		2367524	2367524	-1	no_errors	ENST00000263092	ensembl	human	known	69_37n	missense	106	25.35	36	SNP	1.000	C
METTL16	79066	genome.wustl.edu	37	17	2405551	2405551	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:2405551G>C	ENST00000263092.6	-	2	202	c.75C>G	c.(73-75)tcC>tcG	p.S25S	METTL16_ENST00000538844.1_5'UTR|METTL16_ENST00000571669.2_Intron	NM_024086.3	NP_076991.3	Q86W50	MET16_HUMAN	methyltransferase like 16	25							methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						CTGGATATTTGGATGCCAGAT	0.368																																						dbGAP											0													179.0	160.0	166.0					17																	2405551		1867	4115	5982	-	-	-	SO:0001819	synonymous_variant	0			AK027410	CCDS42232.1	17p13.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000127804	ENSG00000127804			28484	protein-coding gene	gene with protein product			"""methyltransferase 10 domain containing"""	METT10D		18021804	Standard	NM_024086		Approved	MGC3329	uc002fut.3	Q86W50		ENST00000263092.6:c.75C>G	17.37:g.2405551G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTI8|Q86TE5|Q96T16|Q9BVG7	Silent	SNP	pfam_rRNA_lsu_MeTfrase_F-like,pirsf_S-AdoMet-dep_MeTrfase_Mett10D	p.S25	ENST00000263092.6	37	c.75	CCDS42232.1	17																																																																																			METTL16	-	pfam_rRNA_lsu_MeTfrase_F-like,pirsf_S-AdoMet-dep_MeTrfase_Mett10D	ENSG00000127804		0.368	METTL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL16	HGNC	protein_coding	OTTHUMT00000437653.2	199	0.00	0	G	NM_024086		2405551	2405551	-1	no_errors	ENST00000263092	ensembl	human	known	69_37n	silent	145	20.77	38	SNP	1.000	C
METTL23	124512	genome.wustl.edu	37	17	74729274	74729274	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:74729274C>G	ENST00000341249.6	+	3	631	c.299C>G	c.(298-300)tCt>tGt	p.S100C	METTL23_ENST00000588302.1_Missense_Mutation_p.S33C|METTL23_ENST00000590964.1_Missense_Mutation_p.S33C|MFSD11_ENST00000586622.1_5'Flank|METTL23_ENST00000588822.1_Missense_Mutation_p.S33C|METTL23_ENST00000591571.1_Missense_Mutation_p.S33C|METTL23_ENST00000586738.1_Missense_Mutation_p.S100C|RP11-318A15.7_ENST00000587459.1_Missense_Mutation_p.S72C|METTL23_ENST00000589977.1_Missense_Mutation_p.S100C|METTL23_ENST00000586200.1_Intron|METTL23_ENST00000588783.1_Missense_Mutation_p.S100C|METTL23_ENST00000586752.1_Missense_Mutation_p.S33C	NM_001206984.1	NP_001193913.1	Q86XA0	MET23_HUMAN	methyltransferase like 23	100						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	methyltransferase activity (GO:0008168)			large_intestine(2)|lung(1)	3						ATCCTTGCATCTGATGTGTTC	0.403																																						dbGAP											0													77.0	71.0	73.0					17																	74729274		1867	4117	5984	-	-	-	SO:0001583	missense	0				CCDS45787.1, CCDS59298.1	17q25.2	2011-03-03	2011-03-03	2011-03-03	ENSG00000181038	ENSG00000181038			26988	protein-coding gene	gene with protein product		615262	"""chromosome 17 open reading frame 95"""	C17orf95		12477932	Standard	NM_001080510		Approved	LOC124512	uc021udl.1	Q86XA0		ENST00000341249.6:c.299C>G	17.37:g.74729274C>G	ENSP00000341543:p.Ser100Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	H9ZYJ0|K7EK32	Missense_Mutation	SNP	pfam_Nicotinamide_N-MeTfrase-like	p.S100C	ENST00000341249.6	37	c.299	CCDS45787.1	17	.	.	.	.	.	.	.	.	.	.	C	29.9	5.041877	0.93685	.	.	ENSG00000181038	ENST00000317409;ENST00000341249	T	0.09255	3.0	6.17	6.17	0.99709	.	0.052534	0.85682	D	0.000000	T	0.39517	0.1081	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.81914	0.954;0.995	T	0.06409	-1.0828	10	0.87932	D	0	-16.3351	20.4745	0.99168	0.0:1.0:0.0:0.0	.	100;180	Q86XA0;Q8N712	MET23_HUMAN;.	C	179;100	ENSP00000341543:S100C	ENSP00000316862:S179C	S	+	2	0	METTL23	72240869	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.445000	0.80570	2.941000	0.99782	0.655000	0.94253	TCT	METTL23	-	pfam_Nicotinamide_N-MeTfrase-like	ENSG00000181038		0.403	METTL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL23	HGNC	protein_coding	OTTHUMT00000451002.1	79	0.00	0	C	NM_001080510		74729274	74729274	+1	no_errors	ENST00000341249	ensembl	human	known	69_37n	missense	82	25.45	28	SNP	1.000	G
METTL25	84190	genome.wustl.edu	37	12	82792604	82792604	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:82792604C>G	ENST00000248306.3	+	4	631	c.562C>G	c.(562-564)Cta>Gta	p.L188V	METTL25_ENST00000547357.1_3'UTR	NM_032230.2	NP_115606.2	Q8N6Q8	MET25_HUMAN	methyltransferase like 25	188							methyltransferase activity (GO:0008168)										TAAAGGCTACCTAAGCTCTTT	0.318																																						dbGAP											0													39.0	40.0	40.0					12																	82792604		2203	4299	6502	-	-	-	SO:0001583	missense	0			BC029120	CCDS9024.1	12q21.31	2012-08-13	2012-08-13	2012-08-13	ENSG00000127720	ENSG00000127720			26228	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 26"""	C12orf26			Standard	NM_032230		Approved	FLJ22789	uc001szq.3	Q8N6Q8	OTTHUMG00000170252	ENST00000248306.3:c.562C>G	12.37:g.82792604C>G	ENSP00000248306:p.Leu188Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H5Y3	Missense_Mutation	SNP	NULL	p.L188V	ENST00000248306.3	37	c.562	CCDS9024.1	12	.	.	.	.	.	.	.	.	.	.	C	17.59	3.426890	0.62733	.	.	ENSG00000127720	ENST00000248306;ENST00000548200	T;T	0.75260	-0.92;-0.92	5.43	4.54	0.55810	.	0.000000	0.85682	D	0.000000	D	0.83940	0.5363	M	0.74467	2.265	0.51233	D	0.999914	D	0.89917	1.0	D	0.97110	1.0	D	0.84467	0.0597	10	0.54805	T	0.06	-7.1328	10.4253	0.44373	0.0:0.8511:0.0:0.1489	.	188	Q8N6Q8	CL026_HUMAN	V	188	ENSP00000248306:L188V;ENSP00000446878:L188V	ENSP00000248306:L188V	L	+	1	2	C12orf26	81316735	1.000000	0.71417	0.996000	0.52242	0.904000	0.53231	1.988000	0.40697	1.427000	0.47276	0.585000	0.79938	CTA	METTL25	-	NULL	ENSG00000127720		0.318	METTL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL25	HGNC	protein_coding	OTTHUMT00000408192.1	27	0.00	0	C	NM_032230		82792604	82792604	+1	no_errors	ENST00000248306	ensembl	human	known	69_37n	missense	14	26.32	5	SNP	1.000	G
MEX3C	51320	genome.wustl.edu	37	18	48703903	48703903	+	5'UTR	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr18:48703903G>C	ENST00000591040.1	-	0	86							Q5U5Q3	MEX3C_HUMAN	mex-3 RNA binding family member C						chondrocyte hypertrophy (GO:0003415)|energy homeostasis (GO:0097009)|regulation of fat cell differentiation (GO:0045598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|skin(1)	17		Colorectal(6;0.003)|all_epithelial(6;0.0473)		Colorectal(16;0.0175)|READ - Rectum adenocarcinoma(32;0.15)		CAGGAGTCTTGATATACGTGT	0.383																																						dbGAP											0													102.0	103.0	103.0					18																	48703903		2203	4300	6503	-	-	-	SO:0001623	5_prime_UTR_variant	0			BC041122	CCDS11951.2	18q21.1	2013-08-21	2013-08-21	2007-07-18	ENSG00000176624	ENSG00000176624		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	28040	protein-coding gene	gene with protein product		611005	"""ring finger and KH domain containing 2"", ""mex-3 homolog C (C. elegans)"""	RKHD2		17267406	Standard	NM_016626		Approved	FLJ38871, RNF194	uc002lfc.4	Q5U5Q3	OTTHUMG00000132693	ENST00000591040.1:c.-713C>G	18.37:g.48703903G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L022|Q9NZE3	Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1	p.I266M	ENST00000591040.1	37	c.798		18	.	.	.	.	.	.	.	.	.	.	G	15.16	2.752334	0.49362	.	.	ENSG00000176624	ENST00000406189	T	0.58797	0.31	5.84	4.96	0.65561	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.73202	0.3557	M	0.76170	2.325	0.54753	D	0.999989	D	0.89917	1.0	D	0.91635	0.999	T	0.75314	-0.3361	10	0.87932	D	0	-5.9091	10.6723	0.45766	0.149:0.0:0.851:0.0	.	266	Q5U5Q3	MEX3C_HUMAN	M	266	ENSP00000385610:I266M	ENSP00000385610:I266M	I	-	3	3	MEX3C	46957901	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.606000	0.24194	2.767000	0.95098	0.561000	0.74099	ATC	MEX3C	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	ENSG00000176624		0.383	MEX3C-003	KNOWN	mRNA_end_NF|basic	processed_transcript	MEX3C	HGNC	protein_coding	OTTHUMT00000449559.1	64	0.00	0	G	NM_016626		48703903	48703903	-1	no_errors	ENST00000406189	ensembl	human	known	69_37n	missense	25	30.56	11	SNP	1.000	C
MFAP1	4236	genome.wustl.edu	37	15	44107172	44107172	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:44107172C>T	ENST00000267812.3	-	3	632	c.400G>A	c.(400-402)Gaa>Aaa	p.E134K		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	134	Poly-Glu.				extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|microfibril (GO:0001527)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		TCCTCTTCTTCACTGCTGTCT	0.423																																						dbGAP											0													302.0	290.0	294.0					15																	44107172		2198	4298	6496	-	-	-	SO:0001583	missense	0				CCDS10105.1	15q15-q21	2014-05-20			ENSG00000140259	ENSG00000140259			7032	protein-coding gene	gene with protein product		600215				7835894	Standard	NM_005926		Approved		uc001zth.1	P55081	OTTHUMG00000060145	ENST00000267812.3:c.400G>A	15.37:g.44107172C>T	ENSP00000267812:p.Glu134Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86TG6	Missense_Mutation	SNP	pfam_MFAP1_C	p.E134K	ENST00000267812.3	37	c.400	CCDS10105.1	15	.	.	.	.	.	.	.	.	.	.	C	20.2	3.951610	0.73787	.	.	ENSG00000140259	ENST00000267812	.	.	.	5.77	5.77	0.91146	.	0.090028	0.85682	D	0.000000	T	0.82098	0.4963	M	0.83483	2.645	0.80722	D	1	P	0.52842	0.956	P	0.62184	0.899	T	0.78206	-0.2294	9	0.26408	T	0.33	-22.551	19.9576	0.97228	0.0:1.0:0.0:0.0	.	134	P55081	MFAP1_HUMAN	K	134	.	ENSP00000267812:E134K	E	-	1	0	MFAP1	41894464	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	7.129000	0.77225	2.884000	0.98904	0.655000	0.94253	GAA	MFAP1	-	NULL	ENSG00000140259		0.423	MFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFAP1	HGNC	protein_coding	OTTHUMT00000133491.2	310	0.00	0	C	NM_005926		44107172	44107172	-1	no_errors	ENST00000267812	ensembl	human	known	69_37n	missense	225	23.21	68	SNP	1.000	T
MFSD3	113655	genome.wustl.edu	37	8	145735845	145735845	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:145735845C>T	ENST00000301327.4	+	2	1045	c.785C>T	c.(784-786)tCc>tTc	p.S262F	RECQL4_ENST00000532237.1_5'Flank|CTD-2517M22.17_ENST00000580385.1_RNA	NM_138431.1	NP_612440.1	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing 3	262	Leu-rich.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GTGGTCTGCTCCATCGCTGGC	0.632																																						dbGAP											0													136.0	128.0	131.0					8																	145735845		2201	4300	6501	-	-	-	SO:0001583	missense	0				CCDS6431.1	8q24.3	2005-11-17			ENSG00000167700	ENSG00000167700			25157	protein-coding gene	gene with protein product							Standard	NM_138431		Approved		uc003zdi.1	Q96ES6	OTTHUMG00000165177	ENST00000301327.4:c.785C>T	8.37:g.145735845C>T	ENSP00000301327:p.Ser262Phe	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.S262F	ENST00000301327.4	37	c.785	CCDS6431.1	8	.	.	.	.	.	.	.	.	.	.	C	20.2	3.946632	0.73672	.	.	ENSG00000167700	ENST00000301327	T	0.56611	0.45	4.44	4.44	0.53790	Major facilitator superfamily domain, general substrate transporter (1);	0.122561	0.56097	D	0.000028	T	0.73783	0.3631	M	0.82323	2.585	0.58432	D	0.999999	D	0.76494	0.999	D	0.83275	0.996	T	0.78836	-0.2047	10	0.87932	D	0	-23.3778	14.6007	0.68438	0.0:1.0:0.0:0.0	.	262	Q96ES6	MFSD3_HUMAN	F	262	ENSP00000301327:S262F	ENSP00000301327:S262F	S	+	2	0	MFSD3	145706653	1.000000	0.71417	1.000000	0.80357	0.386000	0.30323	6.100000	0.71473	2.293000	0.77203	0.561000	0.74099	TCC	MFSD3	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	ENSG00000167700		0.632	MFSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFSD3	HGNC	protein_coding	OTTHUMT00000382478.2	78	0.00	0	C	NM_138431		145735845	145735845	+1	no_errors	ENST00000301327	ensembl	human	known	69_37n	missense	108	16.92	22	SNP	1.000	T
MGA	23269	genome.wustl.edu	37	15	42041379	42041379	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:42041379C>G	ENST00000570161.1	+	16	5574	c.5574C>G	c.(5572-5574)tcC>tcG	p.S1858S	MGA_ENST00000545763.1_Silent_p.S1649S|MGA_ENST00000566586.1_Silent_p.S1649S|MGA_ENST00000389936.4_Silent_p.S1819S|MGA_ENST00000219905.7_Silent_p.S1858S			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCACTTCGTCCTCTGCTTTCT	0.448																																						dbGAP											0													121.0	116.0	118.0					15																	42041379		1972	4154	6126	-	-	-	SO:0001819	synonymous_variant	0			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.5574C>G	15.37:g.42041379C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.L506V	ENST00000570161.1	37	c.1516	CCDS55959.1	15																																																																																			MGA	-	NULL	ENSG00000174197		0.448	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1	77	0.00	0	C	NM_001164273.1		42041379	42041379	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000564190	ensembl	human	novel	69_37n	missense	55	48.11	51	SNP	0.047	G
MGA	23269	genome.wustl.edu	37	15	42041582	42041582	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:42041582C>A	ENST00000570161.1	+	16	5777	c.5777C>A	c.(5776-5778)tCa>tAa	p.S1926*	MGA_ENST00000545763.1_Nonsense_Mutation_p.S1717*|MGA_ENST00000566586.1_Nonsense_Mutation_p.S1717*|MGA_ENST00000389936.4_Nonsense_Mutation_p.S1887*|MGA_ENST00000219905.7_Nonsense_Mutation_p.S1926*			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ACTTATAGCTCAGGAGGACAG	0.463																																						dbGAP											0													51.0	47.0	48.0					15																	42041582		1881	4105	5986	-	-	-	SO:0001587	stop_gained	0			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.5777C>A	15.37:g.42041582C>A	ENSP00000457035:p.Ser1926*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VAX6|Q75ME7|Q86UM5	Nonsense_Mutation	SNP	pfam_TF_T-box,pfam_HLH_DNA-bd,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_DNA-bd,smart_TF_T-box,smart_HLH_DNA-bd,prints_TF_T-box,pfscan_HLH_DNA-bd,pfscan_TF_T-box	p.S1926*	ENST00000570161.1	37	c.5777	CCDS55959.1	15	.	.	.	.	.	.	.	.	.	.	C	35	5.468590	0.96274	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	.	.	.	5.72	5.72	0.89469	.	0.159842	0.29355	N	0.012385	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.1586	0.81681	0.0:0.8667:0.1333:0.0	.	.	.	.	X	1926;1887;1717	.	ENSP00000219905:S1926X	S	+	2	0	MGA	39828874	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.034000	0.57289	2.704000	0.92352	0.563000	0.77884	TCA	MGA	-	NULL	ENSG00000174197		0.463	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1	52	0.00	0	C	NM_001164273.1		42041582	42041582	+1	no_errors	ENST00000219905	ensembl	human	known	69_37n	nonsense	29	50.85	30	SNP	1.000	A
MGA	23269	genome.wustl.edu	37	15	42052713	42052713	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:42052713C>G	ENST00000570161.1	+	19	7384	c.7384C>G	c.(7384-7386)Ctc>Gtc	p.L2462V	MGA_ENST00000545763.1_Missense_Mutation_p.L2253V|MGA_ENST00000566586.1_Missense_Mutation_p.L2253V|MGA_ENST00000389936.4_Missense_Mutation_p.L2423V|MGA_ENST00000219905.7_Missense_Mutation_p.L2462V			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTCCAAAAGTCTCATTCTTAC	0.403																																						dbGAP											0													78.0	78.0	78.0					15																	42052713		1862	4094	5956	-	-	-	SO:0001583	missense	0			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.7384C>G	15.37:g.42052713C>G	ENSP00000457035:p.Leu2462Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_TF_T-box,pfam_HLH_DNA-bd,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_DNA-bd,smart_TF_T-box,smart_HLH_DNA-bd,prints_TF_T-box,pfscan_HLH_DNA-bd,pfscan_TF_T-box	p.L2462V	ENST00000570161.1	37	c.7384	CCDS55959.1	15	.	.	.	.	.	.	.	.	.	.	C	13.59	2.282303	0.40394	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.97831	-4.56;-4.56;-4.56	5.29	4.36	0.52297	.	0.322151	0.22304	N	0.061830	D	0.91338	0.7268	N	0.01352	-0.895	0.23559	N	0.997417	P;P;P	0.50819	0.884;0.939;0.9	P;P;B	0.49361	0.608;0.554;0.366	D	0.84279	0.0493	10	0.62326	D	0.03	.	4.9918	0.14218	0.0:0.706:0.0:0.294	.	1078;2253;2462	B4DVS1;F5H7K2;E7ENI0	.;.;.	V	2462;2423;2253	ENSP00000219905:L2462V;ENSP00000374586:L2423V;ENSP00000442467:L2253V	ENSP00000219905:L2462V	L	+	1	0	MGA	39840005	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.881000	0.48538	2.466000	0.83321	0.655000	0.94253	CTC	MGA	-	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	ENSG00000174197		0.403	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1	80	0.00	0	C	NM_001164273.1		42052713	42052713	+1	no_errors	ENST00000219905	ensembl	human	known	69_37n	missense	43	29.51	18	SNP	1.000	G
MGAT3	4248	genome.wustl.edu	37	22	39883502	39883502	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:39883502C>G	ENST00000341184.6	+	2	365	c.150C>G	c.(148-150)ttC>ttG	p.F50L		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	50	Pro-rich.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0003830)			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					CCAGCTTTTTCTGGAACAATG	0.632																																						dbGAP											0													149.0	155.0	153.0					22																	39883502		2203	4300	6503	-	-	-	SO:0001583	missense	0			D13789	CCDS13994.2	22q13.1	2013-02-25			ENSG00000128268	ENSG00000128268	2.4.1.144	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7046	protein-coding gene	gene with protein product		604621				8370666	Standard	NM_002409		Approved	GNT-III	uc010gxy.3	Q09327	OTTHUMG00000030185	ENST00000341184.6:c.150C>G	22.37:g.39883502C>G	ENSP00000345270:p.Phe50Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGD0|Q14CK5|Q6IC49|Q9UH32	Missense_Mutation	SNP	pfam_Glyco_trans_17	p.F50L	ENST00000341184.6	37	c.150	CCDS13994.2	22	.	.	.	.	.	.	.	.	.	.	C	9.345	1.064126	0.20067	.	.	ENSG00000128268	ENST00000341184;ENST00000429402;ENST00000418314	.	.	.	5.15	4.05	0.47172	.	0.181068	0.48767	N	0.000178	T	0.21468	0.0517	N	0.08118	0	0.30582	N	0.762413	B	0.09022	0.002	B	0.06405	0.002	T	0.08994	-1.0695	9	0.25751	T	0.34	.	10.59	0.45304	0.0:0.6842:0.2368:0.079	.	50	Q09327	MGAT3_HUMAN	L	50;50;78	.	ENSP00000345270:F50L	F	+	3	2	MGAT3	38213448	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.093000	0.41710	2.404000	0.81709	0.467000	0.42956	TTC	MGAT3	-	NULL	ENSG00000128268		0.632	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGAT3	HGNC	protein_coding	OTTHUMT00000075039.2	51	0.00	0	C	NM_002409		39883502	39883502	+1	no_errors	ENST00000341184	ensembl	human	known	69_37n	missense	73	26.26	26	SNP	1.000	G
MGAT3	4248	genome.wustl.edu	37	22	39884611	39884611	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:39884611C>A	ENST00000341184.6	+	2	1474	c.1259C>A	c.(1258-1260)tCc>tAc	p.S420Y		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	420					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0003830)			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					TGGCACTGCTCCTGGTGCTTC	0.627																																						dbGAP											0													47.0	45.0	45.0					22																	39884611		2203	4300	6503	-	-	-	SO:0001583	missense	0			D13789	CCDS13994.2	22q13.1	2013-02-25			ENSG00000128268	ENSG00000128268	2.4.1.144	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7046	protein-coding gene	gene with protein product		604621				8370666	Standard	NM_002409		Approved	GNT-III	uc010gxy.3	Q09327	OTTHUMG00000030185	ENST00000341184.6:c.1259C>A	22.37:g.39884611C>A	ENSP00000345270:p.Ser420Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGD0|Q14CK5|Q6IC49|Q9UH32	Missense_Mutation	SNP	pfam_Glyco_trans_17	p.S420Y	ENST00000341184.6	37	c.1259	CCDS13994.2	22	.	.	.	.	.	.	.	.	.	.	C	23.2	4.388117	0.82902	.	.	ENSG00000128268	ENST00000341184	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.83450	0.5257	M	0.80422	2.495	0.54753	D	0.999986	D	0.89917	1.0	D	0.97110	1.0	D	0.85401	0.1131	9	0.72032	D	0.01	.	19.0965	0.93253	0.0:1.0:0.0:0.0	.	420	Q09327	MGAT3_HUMAN	Y	420	.	ENSP00000345270:S420Y	S	+	2	0	MGAT3	38214557	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.331000	0.79192	2.531000	0.85337	0.555000	0.69702	TCC	MGAT3	-	pfam_Glyco_trans_17	ENSG00000128268		0.627	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGAT3	HGNC	protein_coding	OTTHUMT00000075039.2	14	0.00	0	C	NM_002409		39884611	39884611	+1	no_errors	ENST00000341184	ensembl	human	known	69_37n	missense	35	31.37	16	SNP	1.000	A
MGAT4A	11320	genome.wustl.edu	37	2	99242246	99242246	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:99242246G>A	ENST00000264968.3	-	14	1884	c.1521C>T	c.(1519-1521)ccC>ccT	p.P507P	MGAT4A_ENST00000409391.1_Silent_p.P507P|MGAT4A_ENST00000414521.2_Silent_p.P379P|MGAT4A_ENST00000393487.1_Silent_p.P507P			Q9UM21	MGT4A_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A	507					cellular protein metabolic process (GO:0044267)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						AGGCTGAAATGGGATTGAGAC	0.363																																						dbGAP											0													89.0	81.0	84.0					2																	99242246		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB000616	CCDS2036.1, CCDS54380.1	2q12	2013-02-25	2005-11-16		ENSG00000071073	ENSG00000071073	2.4.1.145	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7047	protein-coding gene	gene with protein product		604623	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme A"""			10024668	Standard	NM_001160154		Approved	GnT-Iva, GnT-4a	uc002sze.3	Q9UM21	OTTHUMG00000130563	ENST00000264968.3:c.1521C>T	2.37:g.99242246G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E2R6|D3DVH6|E9PEN2|Q53S97|Q86Z15	Silent	SNP	pfam_Glyco_transf_54	p.P507	ENST00000264968.3	37	c.1521	CCDS2036.1	2																																																																																			MGAT4A	-	NULL	ENSG00000071073		0.363	MGAT4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGAT4A	HGNC	protein_coding	OTTHUMT00000252988.2	82	0.00	0	G	NM_012214		99242246	99242246	-1	no_errors	ENST00000264968	ensembl	human	known	69_37n	silent	82	18.00	18	SNP	0.992	A
MGAT4B	11282	genome.wustl.edu	37	5	179226238	179226238	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:179226238G>A	ENST00000292591.7	-	10	1464	c.1114C>T	c.(1114-1116)Cac>Tac	p.H372Y	MIR1229_ENST00000408467.1_RNA|MGAT4B_ENST00000337755.5_Missense_Mutation_p.H387Y|MGAT4B_ENST00000521305.1_5'Flank	NM_014275.4	NP_055090.1	Q9UQ53	MGT4B_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B	372					cellular protein metabolic process (GO:0044267)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCGAGGAGTGAGTGCCCACG	0.632																																					GBM(13;414 434 4098 22176 23230)	dbGAP											0													82.0	81.0	81.0					5																	179226238		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB000624	CCDS4448.1, CCDS4449.1	5q35	2013-02-25	2005-11-16		ENSG00000161013	ENSG00000161013	2.4.1.145	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7048	protein-coding gene	gene with protein product		604561	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme B"""			10372966	Standard	NM_014275		Approved	GnT-Ivb	uc003mks.3	Q9UQ53	OTTHUMG00000130912	ENST00000292591.7:c.1114C>T	5.37:g.179226238G>A	ENSP00000292591:p.His372Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MPR0|Q86TF1|Q96GH4|Q9NSK6	Missense_Mutation	SNP	pfam_Glyco_transf_54	p.H387Y	ENST00000292591.7	37	c.1159	CCDS4448.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.37|16.37	3.104913|3.104913	0.56291|0.56291	.|.	.|.	ENSG00000161013|ENSG00000161013	ENST00000337755;ENST00000292591|ENST00000518778;ENST00000518867	T;T|.	0.42131|.	0.98;0.98|.	4.17|4.17	3.3|3.3	0.37823|0.37823	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.51007|0.51007	0.1649|0.1649	L|L	0.31752|0.31752	0.955|0.955	0.80722|0.80722	D|D	1|1	B;B;P|.	0.51240|.	0.029;0.071;0.943|.	B;B;P|.	0.46659|.	0.026;0.047;0.523|.	T|T	0.41680|0.41680	-0.9495|-0.9495	10|5	0.38643|.	T|.	0.18|.	-47.1166|-47.1166	11.8859|11.8859	0.52602|0.52602	0.0849:0.0:0.9151:0.0|0.0849:0.0:0.9151:0.0	.|.	372;387;371|.	Q9UQ53;A8MPR0;Q9UQ53-2|.	MGT4B_HUMAN;.;.|.	Y|L	387;372|196;183	ENSP00000338487:H387Y;ENSP00000292591:H372Y|.	ENSP00000292591:H372Y|.	H|S	-|-	1|2	0|0	MGAT4B|MGAT4B	179158844|179158844	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.966000|0.966000	0.64601|0.64601	9.578000|9.578000	0.98200|0.98200	0.983000|0.983000	0.38602|0.38602	0.561000|0.561000	0.74099|0.74099	CAC|TCA	MGAT4B	-	pfam_Glyco_transf_54	ENSG00000161013		0.632	MGAT4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGAT4B	HGNC	protein_coding	OTTHUMT00000253503.3	62	0.00	0	G	NM_014275		179226238	179226238	-1	no_errors	ENST00000337755	ensembl	human	known	69_37n	missense	69	23.33	21	SNP	1.000	A
MGAT5	4249	genome.wustl.edu	37	2	135102603	135102603	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:135102603G>C	ENST00000409645.1	+	9	1332	c.1080G>C	c.(1078-1080)aaG>aaC	p.K360N	MGAT5_ENST00000281923.2_Missense_Mutation_p.K360N			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	360					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		CTCAATTCAAGAAAACTCTTG	0.418																																						dbGAP											0													143.0	138.0	140.0					2																	135102603		2203	4300	6503	-	-	-	SO:0001583	missense	0			D17716	CCDS2171.1	2q21	2013-02-25			ENSG00000152127	ENSG00000152127	2.4.1.155	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7049	protein-coding gene	gene with protein product		601774				8292036	Standard	NM_002410		Approved	GNT-V	uc002ttw.4	Q09328	OTTHUMG00000131681	ENST00000409645.1:c.1080G>C	2.37:g.135102603G>C	ENSP00000386377:p.Lys360Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DP70	Missense_Mutation	SNP	NULL	p.K360N	ENST00000409645.1	37	c.1080	CCDS2171.1	2	.	.	.	.	.	.	.	.	.	.	G	19.32	3.805784	0.70682	.	.	ENSG00000152127	ENST00000409645;ENST00000281923	.	.	.	5.25	4.38	0.52667	.	0.000000	0.85682	D	0.000000	T	0.75443	0.3850	M	0.73217	2.22	0.58432	D	0.999999	D	0.76494	0.999	D	0.80764	0.994	T	0.77330	-0.2628	9	0.72032	D	0.01	-21.5437	10.3148	0.43729	0.1508:0.0:0.8492:0.0	.	360	Q09328	MGT5A_HUMAN	N	360	.	ENSP00000281923:K360N	K	+	3	2	MGAT5	134819073	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.153000	0.58118	1.346000	0.45694	0.467000	0.42956	AAG	MGAT5	-	NULL	ENSG00000152127		0.418	MGAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGAT5	HGNC	protein_coding	OTTHUMT00000254584.3	85	0.00	0	G	NM_002410		135102603	135102603	+1	no_errors	ENST00000281923	ensembl	human	known	69_37n	missense	94	20.34	24	SNP	1.000	C
MGAT5B	146664	genome.wustl.edu	37	17	74900401	74900401	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:74900401C>G	ENST00000569840.2	+	6	1161	c.587C>G	c.(586-588)tCc>tGc	p.S196C	MGAT5B_ENST00000301618.4_Missense_Mutation_p.S196C|MGAT5B_ENST00000428789.2_Missense_Mutation_p.S207C|MGAT5B_ENST00000374998.3_3'UTR	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	196					protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACCGAGTGCTCCTTCCTCATC	0.672																																						dbGAP											0													53.0	41.0	45.0					17																	74900401		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	24140	protein-coding gene	gene with protein product		612441	"""mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"""			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.587C>G	17.37:g.74900401C>G	ENSP00000456037:p.Ser196Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Missense_Mutation	SNP	superfamily_PyrdxlP-dep_Trfase_major_dom	p.S207C	ENST00000569840.2	37	c.620	CCDS59299.1	17	.	.	.	.	.	.	.	.	.	.	C	23.8	4.464569	0.84425	.	.	ENSG00000167889	ENST00000374998;ENST00000301618;ENST00000428789	T;T	0.54071	0.6;0.59	4.64	4.64	0.57946	.	0.124898	0.56097	D	0.000033	T	0.72463	0.3463	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.76788	-0.2830	10	0.87932	D	0	-54.2017	14.815	0.70028	0.0:1.0:0.0:0.0	.	207;196	Q3V5L5-2;Q3V5L5-5	.;.	C	196;196;207	ENSP00000301618:S196C;ENSP00000391227:S207C	ENSP00000301618:S196C	S	+	2	0	MGAT5B	72411996	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.452000	0.80683	2.381000	0.81170	0.655000	0.94253	TCC	MGAT5B	-	NULL	ENSG00000167889		0.672	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGAT5B	HGNC	protein_coding	OTTHUMT00000460624.2	20	0.00	0	C	NM_144677		74900401	74900401	+1	no_errors	ENST00000428789	ensembl	human	known	69_37n	missense	24	20.00	6	SNP	1.000	G
MIA2	117153	genome.wustl.edu	37	14	39722147	39722147	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:39722147C>T	ENST00000280082.3	+	5	1962	c.1763C>T	c.(1762-1764)tCt>tTt	p.S588F	RP11-407N17.3_ENST00000553728.1_Intron	NM_054024.3	NP_473365.3	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	0					cholesterol homeostasis (GO:0042632)|triglyceride homeostasis (GO:0070328)	endoplasmic reticulum exit site (GO:0070971)|extracellular region (GO:0005576)				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		TCTTTGTCTTCTCAAAATTAT	0.348																																						dbGAP											0													59.0	62.0	61.0					14																	39722147		2201	4300	6501	-	-	-	SO:0001583	missense	0			BC035981	CCDS9672.1	14q13.2	2007-05-01			ENSG00000150526	ENSG00000150526			18432	protein-coding gene	gene with protein product		608001				12586826	Standard	NM_054024		Approved	FLJ22404	uc001wux.3	Q96PC5	OTTHUMG00000028831	ENST00000280082.3:c.1763C>T	14.37:g.39722147C>T	ENSP00000280082:p.Ser588Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4H0|Q9H6C1	Missense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain	p.S588F	ENST00000280082.3	37	c.1763	CCDS9672.1	14	.	.	.	.	.	.	.	.	.	.	C	17.17	3.322333	0.60634	.	.	ENSG00000150526	ENST00000280082	T	0.54071	0.59	4.48	2.17	0.27698	.	0.262738	0.20321	U	0.094634	T	0.31167	0.0788	.	.	.	0.09310	N	0.999999	B	0.24368	0.102	B	0.23852	0.049	T	0.09143	-1.0688	8	.	.	.	.	4.4771	0.11748	0.0:0.6121:0.0:0.3879	.	588	Q96PC5-2	.	F	588	ENSP00000280082:S588F	.	S	+	2	0	MIA2	38791898	1.000000	0.71417	0.791000	0.31998	0.596000	0.36781	2.208000	0.42797	1.012000	0.39366	0.585000	0.79938	TCT	MIA2	-	NULL	ENSG00000150526		0.348	MIA2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MIA2	HGNC	protein_coding	OTTHUMT00000276768.3	103	0.00	0	C	NM_054024		39722147	39722147	+1	no_errors	ENST00000280082	ensembl	human	novel	69_37n	missense	73	19.78	18	SNP	0.028	T
MIA3	375056	genome.wustl.edu	37	1	222824031	222824031	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:222824031C>G	ENST00000344922.5	+	10	3801	c.3776C>G	c.(3775-3777)tCt>tGt	p.S1259C	MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Missense_Mutation_p.S1259C|MIA3_ENST00000340535.7_Missense_Mutation_p.S137C	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1259					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		ATGATTCTCTCTGATGAAGCA	0.259																																						dbGAP											0													74.0	83.0	80.0					1																	222824031		1799	4042	5841	-	-	-	SO:0001583	missense	0				CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.3776C>G	1.37:g.222824031C>G	ENSP00000340900:p.Ser1259Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain	p.S1259C	ENST00000344922.5	37	c.3776	CCDS41470.1	1	.	.	.	.	.	.	.	.	.	.	C	17.99	3.522637	0.64747	.	.	ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831;ENST00000340535;ENST00000284471	T;T;T	0.72167	1.07;1.07;-0.63	5.39	4.47	0.54385	.	.	.	.	.	T	0.81143	0.4761	M	0.64404	1.975	0.36373	D	0.8614	D;D;D	0.89917	0.994;0.999;1.0	P;D;D	0.68353	0.766;0.957;0.94	D	0.86316	0.1689	9	0.66056	D	0.02	.	14.8651	0.70409	0.0:0.8568:0.1432:0.0	.	1259;137;1259	Q5JRA6-2;Q5JRA6-4;Q5JRA6	.;.;MIA3_HUMAN	C	1259;1259;1259;137;137	ENSP00000340900:S1259C;ENSP00000340587:S1259C;ENSP00000345866:S137C	ENSP00000284471:S137C	S	+	2	0	MIA3	220890654	0.928000	0.31464	0.988000	0.46212	0.999000	0.98932	3.199000	0.51043	1.380000	0.46344	0.655000	0.94253	TCT	MIA3	-	NULL	ENSG00000154305		0.259	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	MIA3	HGNC	protein_coding	OTTHUMT00000091489.4	42	0.00	0	C	NM_198551		222824031	222824031	+1	no_errors	ENST00000344441	ensembl	human	known	69_37n	missense	77	19.79	19	SNP	1.000	G
MIA3	375056	genome.wustl.edu	37	1	222828095	222828095	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:222828095C>T	ENST00000344922.5	+	18	4592	c.4567C>T	c.(4567-4569)Ctg>Ttg	p.L1523L	MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Silent_p.L1523L|MIA3_ENST00000340535.7_Silent_p.L401L	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1523					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.L1523M(1)|p.L1523L(1)		breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		AGTGGAGATTCTGAATGAGCT	0.393																																						dbGAP											2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(1)|lung(1)											106.0	101.0	102.0					1																	222828095		1949	4149	6098	-	-	-	SO:0001819	synonymous_variant	0				CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.4567C>T	1.37:g.222828095C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Silent	SNP	pfam_SH3_2,superfamily_SH3_domain	p.L1523	ENST00000344922.5	37	c.4567	CCDS41470.1	1																																																																																			MIA3	-	NULL	ENSG00000154305		0.393	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	MIA3	HGNC	protein_coding	OTTHUMT00000091489.4	53	0.00	0	C	NM_198551		222828095	222828095	+1	no_errors	ENST00000344441	ensembl	human	known	69_37n	silent	72	13.25	11	SNP	0.999	T
MIB1	57534	genome.wustl.edu	37	18	19353670	19353670	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr18:19353670G>A	ENST00000261537.6	+	4	881	c.617G>A	c.(616-618)aGa>aAa	p.R206K	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	206	MIB/HERC2 2. {ECO:0000255|PROSITE- ProRule:PRU00749}.				blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			AACCTTTACAGAGTTGGCTTT	0.423																																						dbGAP											0													97.0	81.0	86.0					18																	19353670		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	21086	protein-coding gene	gene with protein product		608677	"""mindbomb homolog 1 (Drosophila)"""				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.617G>A	18.37:g.19353670G>A	ENSP00000261537:p.Arg206Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Mib_Herc2,pfam_Znf_ZZ,superfamily_Ankyrin_rpt-contain_dom,smart_Znf_ZZ,smart_Ankyrin_rpt,smart_Znf_RING,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_RING,pfscan_Znf_ZZ	p.R206K	ENST00000261537.6	37	c.617	CCDS11871.1	18	.	.	.	.	.	.	.	.	.	.	G	34	5.326440	0.95708	.	.	ENSG00000101752	ENST00000261537	T	0.61392	0.11	5.12	5.12	0.69794	Mib-herc2 (2);	0.000000	0.85682	D	0.000000	T	0.77343	0.4116	M	0.81614	2.55	0.80722	D	1	P	0.49185	0.92	D	0.63957	0.92	T	0.80522	-0.1345	10	0.72032	D	0.01	-14.393	18.5589	0.91094	0.0:0.0:1.0:0.0	.	206	Q86YT6	MIB1_HUMAN	K	206	ENSP00000261537:R206K	ENSP00000261537:R206K	R	+	2	0	MIB1	17607668	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.864000	0.99589	2.391000	0.81399	0.655000	0.94253	AGA	MIB1	-	pfam_Mib_Herc2	ENSG00000101752		0.423	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIB1	HGNC	protein_coding	OTTHUMT00000254675.1	85	0.00	0	G	NM_020774		19353670	19353670	+1	no_errors	ENST00000261537	ensembl	human	known	69_37n	missense	33	31.25	15	SNP	1.000	A
MIB1	57534	genome.wustl.edu	37	18	19424122	19424122	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr18:19424122C>G	ENST00000261537.6	+	15	2383	c.2119C>G	c.(2119-2121)Cta>Gta	p.L707V	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	707					blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			GCATGAAGCTCTAAGGCATCA	0.468																																						dbGAP											0													190.0	161.0	171.0					18																	19424122		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	21086	protein-coding gene	gene with protein product		608677	"""mindbomb homolog 1 (Drosophila)"""				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.2119C>G	18.37:g.19424122C>G	ENSP00000261537:p.Leu707Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Mib_Herc2,pfam_Znf_ZZ,superfamily_Ankyrin_rpt-contain_dom,smart_Znf_ZZ,smart_Ankyrin_rpt,smart_Znf_RING,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_RING,pfscan_Znf_ZZ	p.L707V	ENST00000261537.6	37	c.2119	CCDS11871.1	18	.	.	.	.	.	.	.	.	.	.	C	23.1	4.370492	0.82573	.	.	ENSG00000101752	ENST00000261537	T	0.15139	2.45	5.48	4.59	0.56863	Ankyrin repeat-containing domain (3);	0.000000	0.64402	D	0.000002	T	0.16128	0.0388	N	0.02916	-0.46	0.80722	D	1	P	0.44776	0.843	D	0.63957	0.92	T	0.31724	-0.9933	10	0.12430	T	0.62	-7.1147	13.3516	0.60605	0.0:0.9231:0.0:0.0769	.	707	Q86YT6	MIB1_HUMAN	V	707	ENSP00000261537:L707V	ENSP00000261537:L707V	L	+	1	2	MIB1	17678120	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.573000	0.67417	1.285000	0.44548	0.591000	0.81541	CTA	MIB1	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000101752		0.468	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIB1	HGNC	protein_coding	OTTHUMT00000254675.1	99	0.00	0	C	NM_020774		19424122	19424122	+1	no_errors	ENST00000261537	ensembl	human	known	69_37n	missense	61	33.70	31	SNP	1.000	G
MIB2	142678	genome.wustl.edu	37	1	1560701	1560701	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:1560701G>A	ENST00000357210.4	+	7	1147	c.931G>A	c.(931-933)Gac>Aac	p.D311N	MIB2_ENST00000378712.1_Missense_Mutation_p.D188N|MIB2_ENST00000520777.1_Missense_Mutation_p.D368N|MIB2_ENST00000504599.1_Missense_Mutation_p.D267N|MIB2_ENST00000378710.3_Missense_Mutation_p.D311N|MIB2_ENST00000518681.1_Missense_Mutation_p.D303N|MIB2_ENST00000505820.2_Missense_Mutation_p.D368N|MIB2_ENST00000355826.5_Missense_Mutation_p.D354N|MIB2_ENST00000378708.1_Missense_Mutation_p.D253N|MIB2_ENST00000360522.4_Missense_Mutation_p.D311N	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	311					Notch signaling pathway (GO:0007219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	early endosome (GO:0005769)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	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;6.04e-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;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GGTGAGTGCTGACAGCCAGCC	0.672																																						dbGAP											0													16.0	19.0	18.0					1																	1560701		2033	4209	6242	-	-	-	SO:0001583	missense	0			AK097106	CCDS41224.1, CCDS41224.2, CCDS53261.1, CCDS53262.1, CCDS53263.1, CCDS53264.1	1p36.33	2013-01-10	2012-02-23	2005-04-01	ENSG00000197530	ENSG00000197530		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	30577	protein-coding gene	gene with protein product		611141	"""zinc finger, ZZ type with ankyrin repeat domain 1"", ""mindbomb homolog 2 (Drosophila)"""	ZZANK1		12761501	Standard	NM_080875		Approved	skeletrophin, ZZZ5, FLJ39787	uc001agg.3	Q96AX9	OTTHUMG00000074647	ENST00000357210.4:c.931G>A	1.37:g.1560701G>A	ENSP00000349741:p.Asp311Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A2AGM5|A2AGM6|B3KV93|B3KVF4|B3KXY1|B4DZ57|E9PGU1|E9PHQ1|F8WA73|J3KNZ7|Q7Z437|Q8IY62|Q8N786|Q8N897|Q8N8R2|Q8N911|Q8NB36|Q8NCY1|Q8NG59|Q8NG60|Q8NG61|Q8NI59|Q8WYN1	Missense_Mutation	SNP	pfam_Mib_Herc2,pfam_Ankyrin_rpt,pfam_Znf_ZZ,superfamily_Ankyrin_rpt-contain_dom,smart_Znf_ZZ,smart_Ankyrin_rpt,smart_Znf_RING,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_RING,pfscan_Znf_ZZ,prints_Ankyrin_rpt	p.D368N	ENST00000357210.4	37	c.1102		1	.	.	.	.	.	.	.	.	.	.	G	11.29	1.595192	0.28445	.	.	ENSG00000197530	ENST00000520777;ENST00000357210;ENST00000360522;ENST00000378710;ENST00000355826;ENST00000518681;ENST00000505820;ENST00000378712;ENST00000504599;ENST00000378708	T;T;T;T;T;T;T;T;T;T	0.65364	1.34;1.37;1.36;1.36;1.36;1.36;1.34;-0.15;1.36;1.38	4.28	4.28	0.50868	.	0.108034	0.64402	D	0.000009	T	0.58495	0.2126	L	0.36672	1.1	0.53688	D	0.999979	B;P;B;P;P;B	0.47302	0.13;0.863;0.146;0.893;0.835;0.044	B;P;B;B;B;B	0.49140	0.039;0.601;0.101;0.4;0.39;0.01	T	0.53606	-0.8415	10	0.13853	T	0.58	-13.0649	15.6889	0.77434	0.0:0.0:1.0:0.0	.	311;188;303;368;297;311	Q96AX9-5;B3KXY1;E9PHQ1;E9PGU1;Q96AX9-2;Q96AX9	.;.;.;.;.;MIB2_HUMAN	N	368;311;311;311;354;303;368;188;267;253	ENSP00000428660:D368N;ENSP00000349741:D311N;ENSP00000353713:D311N;ENSP00000367982:D311N;ENSP00000348081:D354N;ENSP00000428264:D303N;ENSP00000426103:D368N;ENSP00000367984:D188N;ENSP00000426128:D267N;ENSP00000367980:D253N	ENSP00000348081:D354N	D	+	1	0	MIB2	1550564	1.000000	0.71417	0.106000	0.21319	0.084000	0.17831	7.286000	0.78671	1.938000	0.56188	0.305000	0.20034	GAC	MIB2	-	NULL	ENSG00000197530		0.672	MIB2-201	KNOWN	basic|appris_candidate	protein_coding	MIB2	HGNC	protein_coding		25	0.00	0	G	NM_080875		1560701	1560701	+1	no_errors	ENST00000505820	ensembl	human	known	69_37n	missense	21	30.00	9	SNP	0.971	A
MICA	100507436	genome.wustl.edu	37	6	31379030	31379030	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:31379030G>C	ENST00000449934.2	+	3	561	c.507G>C	c.(505-507)ttG>ttC	p.L169F	HCP5_ENST00000414046.2_RNA	NM_001177519.1	NP_001170990.1			MHC class I polypeptide-related sequence A											breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				GGAATTTCTTGAAGGAAGATG	0.527																																						dbGAP											0													109.0	96.0	100.0					6																	31379030		692	1591	2283	-	-	-	SO:0001583	missense	0			L14848	CCDS56412.1, CCDS75421.1	6p21.3	2013-01-11			ENSG00000204520	ENSG00000204520		"""Immunoglobulin superfamily / C1-set domain containing"""	7090	protein-coding gene	gene with protein product		600169				8022771	Standard	NM_000247		Approved	PERB11.1	uc003ntk.1	Q29983	OTTHUMG00000031073	ENST00000449934.2:c.507G>C	6.37:g.31379030G>C	ENSP00000413079:p.Leu169Phe	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like	p.L169F	ENST00000449934.2	37	c.507	CCDS56412.1	6	.	.	.	.	.	.	.	.	.	.	N	10.31	1.314354	0.23908	.	.	ENSG00000204520	ENST00000376222;ENST00000364810;ENST00000399172;ENST00000449934	T	0.01745	4.66	0.973	0.973	0.19710	.	1.615970	0.04286	U	0.344708	T	0.01124	0.0037	N	0.24115	0.695	0.09310	N	1	P;P	0.51240	0.943;0.905	B;P	0.51895	0.446;0.683	T	0.51849	-0.8653	10	0.66056	D	0.02	.	7.8532	0.29468	0.0:0.0:1.0:0.0	.	31;169	Q5SS58;Q96QC4	.;.	F	31;169;126;169	ENSP00000413079:L169F	ENSP00000365394:L169F	L	+	3	2	MICA	31487009	0.033000	0.19621	0.001000	0.08648	0.001000	0.01503	0.636000	0.24644	0.861000	0.35504	0.306000	0.20318	TTG	MICA	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog	ENSG00000204520		0.527	MICA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	MICA	HGNC	protein_coding	OTTHUMT00000076101.7	65	0.00	0	G	NM_001177519		31379030	31379030	+1	no_errors	ENST00000364810	ensembl	human	known	69_37n	missense	44	22.81	13	SNP	0.003	C
MICAL2	9645	genome.wustl.edu	37	11	12183807	12183807	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:12183807C>G	ENST00000256194.4	+	3	393	c.105C>G	c.(103-105)ctC>ctG	p.L35L	MICAL2_ENST00000342902.5_Silent_p.L35L|MICAL2_ENST00000527546.1_Silent_p.L35L|MICAL2_ENST00000537344.1_Silent_p.L35L|MICAL2_ENST00000379612.3_Silent_p.L35L	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	35	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		TCAACATTCTCACACGACACC	0.527																																						dbGAP											0													87.0	84.0	85.0					11																	12183807		2201	4294	6495	-	-	-	SO:0001819	synonymous_variant	0			AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.105C>G	11.37:g.12183807C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Silent	SNP	pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,pfam_FAD_bind_dom,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,prints_Rng_hydrolase-like,pfscan_CH-domain,pfscan_Znf_LIM	p.L35	ENST00000256194.4	37	c.105	CCDS7809.1	11																																																																																			MICAL2	-	NULL	ENSG00000133816		0.527	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL2	HGNC	protein_coding	OTTHUMT00000385993.1	53	0.00	0	C	NM_014632		12183807	12183807	+1	no_errors	ENST00000256194	ensembl	human	known	69_37n	silent	62	21.52	17	SNP	1.000	G
MICALL2	79778	genome.wustl.edu	37	7	1482088	1482088	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:1482088G>C	ENST00000297508.7	-	7	1626	c.1451C>G	c.(1450-1452)tCt>tGt	p.S484C	MICALL2_ENST00000405088.4_Missense_Mutation_p.S272C	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	484	Mediates targeting to the cell plasma membrane. {ECO:0000250}.				actin cytoskeleton reorganization (GO:0031532)|actin filament polymerization (GO:0030041)|endocytic recycling (GO:0032456)|neuron projection development (GO:0031175)|substrate adhesion-dependent cell spreading (GO:0034446)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin filament binding (GO:0051015)|filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		TTTGGGCTGAGAACTGGGAAC	0.617																																						dbGAP											0													182.0	191.0	188.0					7																	1482088		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC037988	CCDS5324.1	7p22.3	2006-11-24			ENSG00000164877	ENSG00000164877			29672	protein-coding gene	gene with protein product	"""junctional Rab13-binding protein"""					12110185, 16525024	Standard	NM_182924		Approved	MGC46023, FLJ23471, MICAL-L2, JRAB	uc003skj.4	Q8IY33	OTTHUMG00000119021	ENST00000297508.7:c.1451C>G	7.37:g.1482088G>C	ENSP00000297508:p.Ser484Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3YTD2|Q7RTP4|Q7Z655|Q8TEQ4|Q9H5F9	Missense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM	p.S484C	ENST00000297508.7	37	c.1451	CCDS5324.1	7	.	.	.	.	.	.	.	.	.	.	G	13.01	2.109402	0.37242	.	.	ENSG00000164877	ENST00000405088;ENST00000297508	T;T	0.71817	2.37;-0.6	3.92	1.85	0.25348	.	1.399780	0.05292	N	0.521212	T	0.59797	0.2220	L	0.32530	0.975	0.09310	N	1	B	0.19073	0.033	B	0.13407	0.009	T	0.50541	-0.8816	10	0.56958	D	0.05	.	5.9842	0.19423	0.0:0.2479:0.5463:0.2058	.	484	Q8IY33	MILK2_HUMAN	C	272;484	ENSP00000385928:S272C;ENSP00000297508:S484C	ENSP00000297508:S484C	S	-	2	0	MICALL2	1448614	0.006000	0.16342	0.002000	0.10522	0.006000	0.05464	1.103000	0.31062	0.737000	0.32582	0.561000	0.74099	TCT	MICALL2	-	NULL	ENSG00000164877		0.617	MICALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICALL2	HGNC	protein_coding	OTTHUMT00000239223.2	61	0.00	0	G	NM_182924		1482088	1482088	-1	no_errors	ENST00000297508	ensembl	human	known	69_37n	missense	63	27.59	24	SNP	0.000	C
MICB	4277	genome.wustl.edu	37	6	31474150	31474150	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:31474150G>C	ENST00000252229.6	+	3	635	c.556G>C	c.(556-558)Gac>Cac	p.D186H	MICB_ENST00000538442.1_Missense_Mutation_p.D154H|MICB_ENST00000399150.3_Missense_Mutation_p.D143H	NM_005931.3	NP_005922.2			MHC class I polypeptide-related sequence B											NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						TATGCAGGCAGACTGCCTGCA	0.547																																						dbGAP											0													72.0	72.0	72.0					6																	31474150		1958	4147	6105	-	-	-	SO:0001583	missense	0				CCDS43449.1, CCDS75422.1, CCDS75423.1	6p21.3	2013-01-11			ENSG00000204516	ENSG00000204516		"""Immunoglobulin superfamily / C1-set domain containing"""	7091	protein-coding gene	gene with protein product		602436				8022771	Standard	NM_005931		Approved	PERB11.2	uc003ntn.4	Q29980	OTTHUMG00000031074	ENST00000252229.6:c.556G>C	6.37:g.31474150G>C	ENSP00000252229:p.Asp186His	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like	p.D186H	ENST00000252229.6	37	c.556	CCDS43449.1	6	.	.	.	.	.	.	.	.	.	.	N	12.38	1.919485	0.33908	.	.	ENSG00000204516	ENST00000538442;ENST00000399150;ENST00000252229	T;T;T	0.01767	5.78;4.65;5.78	1.28	1.28	0.21552	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.463681	0.15567	U	0.255657	T	0.03348	0.0097	M	0.77616	2.38	0.09310	N	0.999991	D;D;D	0.76494	0.972;0.999;0.993	P;D;D	0.65684	0.739;0.937;0.936	T	0.28996	-1.0026	10	0.87932	D	0	.	8.4577	0.32910	0.0:0.0:1.0:0.0	.	154;143;186	F5H7Q8;A2AC57;Q29980	.;.;MICB_HUMAN	H	154;143;186	ENSP00000442345:D154H;ENSP00000382103:D143H;ENSP00000252229:D186H	ENSP00000252229:D186H	D	+	1	0	MICB	31582129	0.000000	0.05858	0.036000	0.18154	0.015000	0.08874	-0.024000	0.12435	0.997000	0.38969	0.305000	0.20034	GAC	MICB	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog	ENSG00000204516		0.547	MICB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICB	HGNC	protein_coding	OTTHUMT00000076102.3	58	0.00	0	G	NM_005931		31474150	31474150	+1	no_errors	ENST00000252229	ensembl	human	known	69_37n	missense	58	26.58	21	SNP	0.371	C
MIF4GD	57409	genome.wustl.edu	37	17	73265503	73265503	+	Intron	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:73265503C>T	ENST00000325102.8	-	2	207				MIF4GD_ENST00000578305.1_Intron|RP11-649A18.12_ENST00000585075.1_RNA|RP11-649A18.12_ENST00000582668.1_RNA|MIF4GD_ENST00000580571.1_Intron|MIF4GD_ENST00000245551.5_Missense_Mutation_p.E37K|MIF4GD_ENST00000579119.1_Intron|MIF4GD_ENST00000579297.1_Missense_Mutation_p.E44K|MIF4GD_ENST00000577542.1_Missense_Mutation_p.E44K	NM_001242501.1	NP_001229430.1	A9UHW6	MI4GD_HUMAN	MIF4G domain containing						regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	10	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			ACGGAATATTCTCCATCTTCT	0.473																																						dbGAP											0													130.0	120.0	123.0					17																	73265503		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			CR605810	CCDS11719.1, CCDS56044.1, CCDS58598.1	17q25.1	2005-12-15		2005-12-15					24030	protein-coding gene	gene with protein product		612072		MIFD			Standard	NM_001242498		Approved	AD023, MGC45027	uc002jnq.3	A9UHW6		ENST00000325102.8:c.82+691G>A	17.37:g.73265503C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DUM7|Q8N4Q5|Q9HBL5	Missense_Mutation	SNP	pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold	p.E44K	ENST00000325102.8	37	c.130	CCDS56044.1	17	.	.	.	.	.	.	.	.	.	.	C	7.480	0.648513	0.14516	.	.	ENSG00000125457	ENST00000245551	.	.	.	2.6	1.59	0.23543	.	.	.	.	.	T	0.14270	0.0345	N	0.08118	0	0.09310	N	0.999999	B;B	0.15141	0.012;0.007	B;B	0.04013	0.001;0.001	T	0.32134	-0.9918	8	0.07175	T	0.84	.	5.4454	0.16531	0.0:0.8326:0.0:0.1674	.	37;44	A9UHW6-2;B4DUM7	.;.	K	37	.	ENSP00000245551:E37K	E	-	1	0	MIF4GD	70777098	0.008000	0.16893	0.016000	0.15963	0.081000	0.17604	0.806000	0.27126	0.438000	0.26450	0.455000	0.32223	GAA	MIF4GD	-	superfamily_ARM-type_fold	ENSG00000125457		0.473	MIF4GD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MIF4GD	HGNC	protein_coding	OTTHUMT00000446671.1	82	0.00	0	C	NM_020679		73265503	73265503	-1	no_errors	ENST00000577542	ensembl	human	known	69_37n	missense	127	13.01	19	SNP	0.069	T
MIIP	60672	genome.wustl.edu	37	1	12082262	12082262	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:12082262delC	ENST00000235332.4	+	3	394	c.225delC	c.(223-225)ggcfs	p.G75fs	MIIP_ENST00000436478.2_Frame_Shift_Del_p.G75fs|Y_RNA_ENST00000365591.1_RNA	NM_021933.3	NP_068752.2	Q5JXC2	MIIP_HUMAN	migration and invasion inhibitory protein	75										autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						CCGTGTGGGGCCCACCAGATG	0.647																																						dbGAP											0													52.0	57.0	55.0					1																	12082262		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK022500	CCDS143.1	1p36.22	2009-07-09			ENSG00000116691	ENSG00000116691			25715	protein-coding gene	gene with protein product	"""invasion inhibitory protein 45"""	608772				15867349, 14617774	Standard	NM_021933		Approved	FLJ12438, IIp45	uc001ato.2	Q5JXC2	OTTHUMG00000002439	ENST00000235332.4:c.225delC	1.37:g.12082262delC	ENSP00000235332:p.Gly75fs	Somatic		WXS	Illumina GAIIx	Phase_IV	C0KL22|Q96HU6|Q9H839|Q9HA00	Frame_Shift_Del	DEL	NULL	p.P76fs	ENST00000235332.4	37	c.225	CCDS143.1	1																																																																																			MIIP	-	NULL	ENSG00000116691		0.647	MIIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIIP	HGNC	protein_coding	OTTHUMT00000006941.1	15	0.00	0	C	NM_021933		12082262	12082262	+1	no_errors	ENST00000235332	ensembl	human	known	69_37n	frame_shift_del	12	36.36	8	DEL	0.000	-
MINK1	50488	genome.wustl.edu	37	17	4784433	4784433	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:4784433G>A	ENST00000355280.6	+	4	383	c.187G>A	c.(187-189)Gag>Aag	p.E63K	MINK1_ENST00000453408.3_Missense_Mutation_p.E63K|MINK1_ENST00000347992.7_Missense_Mutation_p.E63K|RN7SL784P_ENST00000577319.1_RNA	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2			misshapen-like kinase 1											central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						TTAGGACGAGGAGGAAGAGAT	0.582																																						dbGAP											0													226.0	231.0	229.0					17																	4784433		692	1591	2283	-	-	-	SO:0001583	missense	0			AY775058	CCDS45588.1, CCDS45589.1, CCDS45590.1	17p13.2	2011-04-14	2010-06-24		ENSG00000141503	ENSG00000141503			17565	protein-coding gene	gene with protein product	"""misshapen/NIK-related kinase"""	609426	"""misshapen-like kinase 1 (zebrafish)"""			10708748, 12087176	Standard	NM_015716		Approved	B55, MINK, ZC3, MAP4K6, YSK2	uc010vsl.2	Q8N4C8		ENST00000355280.6:c.187G>A	17.37:g.4784433G>A	ENSP00000347427:p.Glu63Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.E63K	ENST00000355280.6	37	c.187	CCDS45588.1	17	.	.	.	.	.	.	.	.	.	.	G	25.0	4.588563	0.86851	.	.	ENSG00000141503	ENST00000355280;ENST00000453408;ENST00000347992	T;T;T	0.65364	-0.15;-0.15;-0.15	5.09	5.09	0.68999	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.61739	0.2371	N	0.05574	-0.02	0.80722	D	1	D;D;D;D	0.56746	0.972;0.972;0.977;0.972	D;D;D;D	0.66602	0.909;0.909;0.945;0.909	T	0.70428	-0.4874	9	0.87932	D	0	.	16.0445	0.80711	0.0:0.0:1.0:0.0	.	63;63;63;63	Q8N4C8-2;Q8N4C8-4;Q8N4C8;Q8N4C8-3	.;.;MINK1_HUMAN;.	K	63	ENSP00000347427:E63K;ENSP00000406487:E63K;ENSP00000269296:E63K	ENSP00000269296:E63K	E	+	1	0	MINK1	.	1.000000	0.71417	0.998000	0.56505	0.447000	0.32167	9.579000	0.98204	2.633000	0.89246	0.655000	0.94253	GAG	MINK1	-	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	ENSG00000141503		0.582	MINK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MINK1	HGNC	protein_coding	OTTHUMT00000439801.1	99	0.00	0	G	NM_015716		4784433	4784433	+1	no_errors	ENST00000355280	ensembl	human	known	69_37n	missense	96	23.20	29	SNP	1.000	A
CIT	11113	genome.wustl.edu	37	12	120151478	120151478	+	Intron	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:120151478G>A	ENST00000261833.7	-	33	4233				CIT_ENST00000537607.1_Intron|CIT_ENST00000392521.2_Intron|MIR1178_ENST00000408396.1_RNA	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase						cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TGAGCAACCTGAGGGCATGCT	0.617																																						dbGAP											0													71.0	67.0	69.0					12																	120151478		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.4181-25C>T	12.37:g.120151478G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	RNA	SNP	-	NULL	ENST00000261833.7	37	NULL	CCDS9192.1	12																																																																																			MIR1178	-	-	ENSG00000221323		0.617	CIT-001	KNOWN	basic|CCDS	protein_coding	MIR1178	HGNC	protein_coding	OTTHUMT00000259410.4	40	0.00	0	G	NM_007174		120151478	120151478	-1	no_errors	ENST00000408396	ensembl	human	known	69_37n	rna	36	21.74	10	SNP	0.808	A
MIB1	57534	genome.wustl.edu	37	18	19405701	19405701	+	Intron	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr18:19405701G>A	ENST00000261537.6	+	12	2093				MIB1_ENST00000578646.1_Intron|MIR133A1_ENST00000581072.1_RNA|MIR133A1_ENST00000385052.1_RNA	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1						blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			CAAATCCATTGAAGAGGCGAT	0.378																																						dbGAP											0													92.0	90.0	91.0					18																	19405701		1568	3582	5150	-	-	-	SO:0001627	intron_variant	0			AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	21086	protein-coding gene	gene with protein product		608677	"""mindbomb homolog 1 (Drosophila)"""				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.1829+6094G>A	18.37:g.19405701G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	RNA	SNP	-	NULL	ENST00000261537.6	37	NULL	CCDS11871.1	18																																																																																			MIR133A1	-	-	ENSG00000207786		0.378	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR133A1	HGNC	protein_coding	OTTHUMT00000254675.1	96	0.00	0	G	NM_020774		19405701	19405701	-1	no_errors	ENST00000385052	ensembl	human	known	69_37n	rna	52	32.47	25	SNP	1.000	A
ZNF766	90321	genome.wustl.edu	37	19	52785131	52785131	+	Intron	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:52785131G>C	ENST00000439461.1	+	2	61				ZNF766_ENST00000599581.1_Intron|ZNF766_ENST00000600821.1_Intron|ZNF766_ENST00000359102.4_Intron|CTD-2525I3.5_ENST00000594865.1_RNA|ZNF766_ENST00000593612.1_Intron|MIR643_ENST00000385267.1_RNA	NM_001010851.2	NP_001010851.1	Q5HY98	ZN766_HUMAN	zinc finger protein 766						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(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		AGCTCAGGTAGATATTGAATG	0.323																																						dbGAP											0													33.0	29.0	30.0					19																	52785131		1566	3582	5148	-	-	-	SO:0001627	intron_variant	0			AK024074	CCDS46163.1	19q13.33	2013-01-08				ENSG00000196214		"""Zinc fingers, C2H2-type"", ""-"""	28063	protein-coding gene	gene with protein product							Standard	XM_006723458		Approved		uc002pyr.1	Q5HY98		ENST00000439461.1:c.19-233G>C	19.37:g.52785131G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNE0|Q7Z326	RNA	SNP	-	NULL	ENST00000439461.1	37	NULL	CCDS46163.1	19																																																																																			MIR643	-	-	ENSG00000208002		0.323	ZNF766-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR643	HGNC	protein_coding	OTTHUMT00000462764.1	39	0.00	0	G	NM_001010851		52785131	52785131	+1	no_errors	ENST00000385267	ensembl	human	known	69_37n	rna	21	30.00	9	SNP	0.003	C
MIR518D	574489	genome.wustl.edu	37	19	54238214	54238214	+	RNA	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:54238214G>C	ENST00000385014.1	+	0	84				MIR516B1_ENST00000385211.1_RNA|RNU6-980P_ENST00000516925.1_RNA	NR_030211.1				microRNA 518d																		GTTACGGTTTGAGAAACTCAA	0.433																																						dbGAP											0													79.0	75.0	76.0					19																	54238214		1568	3582	5150	-	-	-			0					19q13.42	2011-09-12		2008-12-18	ENSG00000207747	ENSG00000207747		"""ncRNAs / Micro RNAs"""	32121	non-coding RNA	RNA, micro				MIRN518D			Standard	NR_030211		Approved	hsa-mir-518d	uc021vao.1				19.37:g.54238214G>C		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000385014.1	37	NULL		19																																																																																			MIR518D	-	-	ENSG00000207747		0.433	MIR518D-201	KNOWN	basic	miRNA	MIR518D	HGNC	miRNA		142	0.00	0	G	NR_030211		54238214	54238214	+1	no_errors	ENST00000385014	ensembl	human	known	69_37n	rna	79	14.13	13	SNP	0.014	C
DERL2	51009	genome.wustl.edu	37	17	5392473	5392473	+	5'Flank	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:5392473C>G	ENST00000158771.4	-	0	0				MIS12_ENST00000381165.3_Missense_Mutation_p.I97M|DERL2_ENST00000571968.1_5'Flank|MIS12_ENST00000573759.1_Missense_Mutation_p.I97M|DERL2_ENST00000570848.1_5'Flank|DERL2_ENST00000572834.1_5'Flank	NM_016041.3	NP_057125.2	Q9GZP9	DERL2_HUMAN	derlin 2						endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|retrograde protein transport, ER to cytosol (GO:0030970)|suckling behavior (GO:0001967)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|late endosome (GO:0005770)|membrane (GO:0016020)				large_intestine(3)	3						CCTCAAACATCTTGCTTCCTG	0.368																																						dbGAP											0													69.0	66.0	67.0					17																	5392473		2203	4300	6503	-	-	-	SO:0001631	upstream_gene_variant	0			BC010890	CCDS11073.1	17p13.2	2012-02-01	2012-02-01		ENSG00000072849	ENSG00000072849			17943	protein-coding gene	gene with protein product		610304	"""Der1-like domain family, member 2"""			10810093, 11500051	Standard	NM_016041		Approved	F-LAN-1, FLANa, F-LANa, CGI-101, derlin-2	uc002gcc.1	Q9GZP9	OTTHUMG00000102040		17.37:g.5392473C>G	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9Y3A7	Missense_Mutation	SNP	pfam_Centromere_Mis12	p.I97M	ENST00000158771.4	37	c.291	CCDS11073.1	17	.	.	.	.	.	.	.	.	.	.	C	14.29	2.491927	0.44352	.	.	ENSG00000167842	ENST00000381165	T	0.43294	0.95	6.08	4.06	0.47325	.	0.161882	0.53938	D	0.000047	T	0.38746	0.1052	L	0.40543	1.245	0.26464	N	0.975394	P	0.42518	0.782	P	0.47786	0.557	T	0.31280	-0.9949	10	0.87932	D	0	-19.4496	5.1228	0.14869	0.0:0.5771:0.1618:0.2611	.	97	Q9H081	MIS12_HUMAN	M	97	ENSP00000370557:I97M	ENSP00000370557:I97M	I	+	3	3	MIS12	5333197	0.896000	0.30565	1.000000	0.80357	0.979000	0.70002	0.210000	0.17455	0.834000	0.34852	0.591000	0.81541	ATC	MIS12	-	pfam_Centromere_Mis12	ENSG00000167842		0.368	DERL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIS12	HGNC	protein_coding	OTTHUMT00000219825.1	49	0.00	0	C	NM_016041		5392473	5392473	+1	no_errors	ENST00000381165	ensembl	human	known	69_37n	missense	36	23.40	11	SNP	1.000	G
MITF	4286	genome.wustl.edu	37	3	69928332	69928332	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:69928332C>T	ENST00000448226.2	+	2	279	c.152C>T	c.(151-153)tCc>tTc	p.S51F	MITF_ENST00000394355.2_Missense_Mutation_p.S26F|MITF_ENST00000352241.4_Missense_Mutation_p.S51F|MITF_ENST00000314589.5_Missense_Mutation_p.S35F|MITF_ENST00000472437.1_5'UTR|MITF_ENST00000328528.6_Missense_Mutation_p.S50F			O75030	MITF_HUMAN	microphthalmia-associated transcription factor	51					bone remodeling (GO:0046849)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|melanocyte differentiation (GO:0030318)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)|protein complex (GO:0043234)	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 core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		ATAAGCTCCTCCAGTATGACA	0.562			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""																														Melanoma(29;269 969 31479 41502 42961)	dbGAP		Dom	yes		3	3p14.1	4286	microphthalmia-associated transcription factor	yes	E	0													45.0	50.0	48.0					3																	69928332		2049	4217	6266	-	-	-	SO:0001583	missense	0				CCDS2913.1, CCDS43106.1, CCDS43107.1, CCDS46865.1, CCDS46866.1, CCDS46866.2, CCDS54607.1, CCDS74962.1	3p14.1-p12.3	2014-09-17			ENSG00000187098	ENSG00000187098		"""Basic helix-loop-helix proteins"""	7105	protein-coding gene	gene with protein product	"""homolog of mouse microphthalmia"""	156845	"""Waardenburg syndrome, type 2A"""	WS2A, WS2		8069297, 7874167, 7951321	Standard	NM_198159		Approved	MI, bHLHe32	uc003dnz.3	O75030	OTTHUMG00000149921	ENST00000448226.2:c.152C>T	3.37:g.69928332C>T	ENSP00000391803:p.Ser51Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DJL2|D3K197|E9PFN0|Q14841|Q9P2V0|Q9P2V1|Q9P2V2|Q9P2Y8	Missense_Mutation	SNP	pfam_bHLH_ZIP_TF_MiT/TFE,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.S51F	ENST00000448226.2	37	c.152		3	.	.	.	.	.	.	.	.	.	.	C	27.8	4.868158	0.91587	.	.	ENSG00000187098	ENST00000352241;ENST00000448226;ENST00000457080;ENST00000328528;ENST00000451708;ENST00000314589;ENST00000394355	T;T;T;T;T;T;T	0.53857	2.43;1.95;0.6;2.33;1.68;2.49;2.39	5.91	5.91	0.95273	.	0.060575	0.64402	D	0.000002	T	0.72763	0.3501	M	0.65975	2.015	0.58432	D	0.999999	D;D;D;D	0.76494	0.997;0.997;0.999;0.997	D;D;D;D	0.85130	0.991;0.991;0.997;0.991	T	0.69397	-0.5156	9	.	.	.	.	20.3052	0.98627	0.0:1.0:0.0:0.0	.	26;35;50;51	O75030-4;O75030-8;O75030-6;O75030-2	.;.;.;.	F	51;51;50;50;35;35;26	ENSP00000295600:S51F;ENSP00000391803:S51F;ENSP00000391276:S50F;ENSP00000327867:S50F;ENSP00000398639:S35F;ENSP00000324443:S35F;ENSP00000377884:S26F	.	S	+	2	0	MITF	70011022	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.176000	0.77643	2.814000	0.96858	0.650000	0.86243	TCC	MITF	-	NULL	ENSG00000187098		0.562	MITF-007	KNOWN	not_organism_supported|basic	protein_coding	MITF	HGNC	protein_coding	OTTHUMT00000313947.1	42	0.00	0	C	NM_198159		69928332	69928332	+1	no_errors	ENST00000448226	ensembl	human	known	69_37n	missense	54	20.59	14	SNP	1.000	T
MKI67	4288	genome.wustl.edu	37	10	129900948	129900948	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:129900948C>G	ENST00000368654.3	-	13	9531	c.9156G>C	c.(9154-9156)ttG>ttC	p.L3052F	MKI67_ENST00000368653.3_Missense_Mutation_p.L2692F	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	3052					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CAGAAGTCCTCAAACTTCTCT	0.483																																						dbGAP											0													191.0	178.0	182.0					10																	129900948		2203	4300	6503	-	-	-	SO:0001583	missense	0			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.9156G>C	10.37:g.129900948C>G	ENSP00000357643:p.Leu3052Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VWH2	Missense_Mutation	SNP	pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.L3052F	ENST00000368654.3	37	c.9156	CCDS7659.1	10	.	.	.	.	.	.	.	.	.	.	C	13.81	2.347554	0.41599	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.01572	4.8;4.76	4.0	1.09	0.20402	.	3.297330	0.01702	N	0.027254	T	0.04497	0.0123	L	0.32530	0.975	0.09310	N	1	D;D;D	0.71674	0.998;0.998;0.997	D;D;D	0.66351	0.943;0.943;0.916	T	0.49771	-0.8904	10	0.10902	T	0.67	.	6.2065	0.20606	0.0:0.6755:0.0:0.3245	.	3051;2692;3052	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	F	3052;2692;3051	ENSP00000357643:L3052F;ENSP00000357642:L2692F	ENSP00000357642:L2692F	L	-	3	2	MKI67	129790938	0.000000	0.05858	0.000000	0.03702	0.062000	0.15995	-0.411000	0.07142	0.126000	0.18424	0.563000	0.77884	TTG	MKI67	-	NULL	ENSG00000148773		0.483	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKI67	HGNC	protein_coding	OTTHUMT00000050999.1	193	0.00	0	C	NM_002417		129900948	129900948	-1	no_errors	ENST00000368654	ensembl	human	known	69_37n	missense	98	38.36	61	SNP	0.000	G
MKKS	8195	genome.wustl.edu	37	20	10389304	10389304	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:10389304C>A	ENST00000347364.3	-	4	1895	c.1133G>T	c.(1132-1134)aGa>aTa	p.R378I	MKKS_ENST00000399054.2_Missense_Mutation_p.R378I	NM_170784.2	NP_740754.1	Q9NPJ1	MKKS_HUMAN	McKusick-Kaufman syndrome	378					artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|chaperone-mediated protein complex assembly (GO:0051131)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|determination of left/right symmetry (GO:0007368)|fat cell differentiation (GO:0045444)|gonad development (GO:0008406)|heart development (GO:0007507)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of multicellular organism growth (GO:0040018)|protein folding (GO:0006457)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sensory perception of smell (GO:0007608)|social behavior (GO:0035176)|spermatid development (GO:0007286)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|motile cilium (GO:0031514)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)|unfolded protein binding (GO:0051082)			kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2)	16						AGTGTCATTTCTGTTGCAGAG	0.398																																					Melanoma(79;1979 2212 6640)	dbGAP											0													87.0	80.0	82.0					20																	10389304		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF221993	CCDS13111.1	20p12	2013-01-08			ENSG00000125863	ENSG00000125863		"""Heat Shock Proteins / Chaperonins"""	7108	protein-coding gene	gene with protein product		604896		BBS6		9467007	Standard	NR_072977		Approved		uc002wnu.2	Q9NPJ1	OTTHUMG00000031868	ENST00000347364.3:c.1133G>T	20.37:g.10389304C>A	ENSP00000246062:p.Arg378Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7B0|D3DW18	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1	p.R378I	ENST00000347364.3	37	c.1133	CCDS13111.1	20	.	.	.	.	.	.	.	.	.	.	C	33	5.285969	0.95517	.	.	ENSG00000125863	ENST00000347364;ENST00000399054	D;D	0.87571	-2.27;-2.27	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.93337	0.7876	M	0.77616	2.38	0.80722	D	1	D	0.56746	0.977	P	0.62435	0.902	D	0.92853	0.6299	10	0.62326	D	0.03	-37.4562	20.5948	0.99439	0.0:1.0:0.0:0.0	.	378	Q9NPJ1	MKKS_HUMAN	I	378	ENSP00000246062:R378I;ENSP00000382008:R378I	ENSP00000246062:R378I	R	-	2	0	MKKS	10337304	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.606000	0.67641	2.873000	0.98535	0.563000	0.77884	AGA	MKKS	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1	ENSG00000125863		0.398	MKKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MKKS	HGNC	protein_coding	OTTHUMT00000077991.3	96	0.00	0	C			10389304	10389304	-1	no_errors	ENST00000347364	ensembl	human	known	69_37n	missense	119	18.92	28	SNP	1.000	A
MKKS	8195	genome.wustl.edu	37	20	10389392	10389392	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:10389392C>A	ENST00000347364.3	-	4	1807	c.1045G>T	c.(1045-1047)Gat>Tat	p.D349Y	MKKS_ENST00000399054.2_Missense_Mutation_p.D349Y	NM_170784.2	NP_740754.1	Q9NPJ1	MKKS_HUMAN	McKusick-Kaufman syndrome	349	Substrate-binding apical domain.				artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|chaperone-mediated protein complex assembly (GO:0051131)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|determination of left/right symmetry (GO:0007368)|fat cell differentiation (GO:0045444)|gonad development (GO:0008406)|heart development (GO:0007507)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of multicellular organism growth (GO:0040018)|protein folding (GO:0006457)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sensory perception of smell (GO:0007608)|social behavior (GO:0035176)|spermatid development (GO:0007286)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|motile cilium (GO:0031514)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)|unfolded protein binding (GO:0051082)			kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2)	16						GTGCACACATCTTTCACACTT	0.358																																					Melanoma(79;1979 2212 6640)	dbGAP											0													92.0	86.0	88.0					20																	10389392		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF221993	CCDS13111.1	20p12	2013-01-08			ENSG00000125863	ENSG00000125863		"""Heat Shock Proteins / Chaperonins"""	7108	protein-coding gene	gene with protein product		604896		BBS6		9467007	Standard	NR_072977		Approved		uc002wnu.2	Q9NPJ1	OTTHUMG00000031868	ENST00000347364.3:c.1045G>T	20.37:g.10389392C>A	ENSP00000246062:p.Asp349Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7B0|D3DW18	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1	p.D349Y	ENST00000347364.3	37	c.1045	CCDS13111.1	20	.	.	.	.	.	.	.	.	.	.	C	16.46	3.129994	0.56721	.	.	ENSG00000125863	ENST00000347364;ENST00000399054	T;T	0.79141	-1.24;-1.24	5.74	4.77	0.60923	.	0.268636	0.42964	D	0.000640	D	0.85600	0.5734	M	0.72479	2.2	0.45528	D	0.998484	D	0.71674	0.998	D	0.66979	0.948	D	0.85475	0.1175	10	0.41790	T	0.15	-21.5801	13.6427	0.62260	0.0:0.9216:0.0:0.0784	.	349	Q9NPJ1	MKKS_HUMAN	Y	349	ENSP00000246062:D349Y;ENSP00000382008:D349Y	ENSP00000246062:D349Y	D	-	1	0	MKKS	10337392	0.987000	0.35691	0.992000	0.48379	0.633000	0.38033	1.617000	0.36943	1.484000	0.48361	0.563000	0.77884	GAT	MKKS	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1	ENSG00000125863		0.358	MKKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MKKS	HGNC	protein_coding	OTTHUMT00000077991.3	101	0.00	0	C			10389392	10389392	-1	no_errors	ENST00000347364	ensembl	human	known	69_37n	missense	126	21.25	34	SNP	0.996	A
MKS1	54903	genome.wustl.edu	37	17	56289771	56289771	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:56289771G>A	ENST00000393119.2	-	9	957	c.883C>T	c.(883-885)Ctc>Ttc	p.L295F	MKS1_ENST00000546108.1_Missense_Mutation_p.L92F|MKS1_ENST00000537529.2_Missense_Mutation_p.L285F|MKS1_ENST00000337050.7_Missense_Mutation_p.L295F|MKS1_ENST00000313863.6_Missense_Mutation_p.L295F	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	295					branching morphogenesis of an epithelial tube (GO:0048754)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)				endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						AGGCTGCTGAGATACTCCTTG	0.493																																						dbGAP											0													95.0	97.0	96.0					17																	56289771		2015	4210	6225	-	-	-	SO:0001583	missense	0			DQ185029	CCDS11603.2, CCDS54148.1	17q21-q24	2014-09-17			ENSG00000011143	ENSG00000011143			7121	protein-coding gene	gene with protein product	"""POC12 centriolar protein homolog (Chlamydomonas)"""	609883		MKS		7550354, 16415886, 18327255	Standard	NM_017777		Approved	FLJ20345, POC12, BBS13	uc002ivr.2	Q9NXB0	OTTHUMG00000133714	ENST00000393119.2:c.883C>T	17.37:g.56289771G>A	ENSP00000376827:p.Leu295Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B7WNX4|F5H885|Q284T0|Q96G13	Missense_Mutation	SNP	pfam_B9_dom	p.L295F	ENST00000393119.2	37	c.883	CCDS11603.2	17	.	.	.	.	.	.	.	.	.	.	G	18.57	3.652236	0.67472	.	.	ENSG00000011143	ENST00000537529;ENST00000393120;ENST00000393119;ENST00000337050;ENST00000546108	T;T;T;T	0.76060	-0.52;-0.5;-0.27;-0.99	6.14	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.80778	0.4688	M	0.62723	1.935	0.50632	D	0.999889	D;P	0.67145	0.996;0.82	P;B	0.61800	0.894;0.164	T	0.81820	-0.0757	10	0.62326	D	0.03	-13.7337	9.332	0.38027	0.1595:0.0:0.8405:0.0	.	295;295	A8MPP8;Q9NXB0	.;MKS1_HUMAN	F	285;295;295;295;92	ENSP00000442096:L285F;ENSP00000376827:L295F;ENSP00000338407:L295F;ENSP00000443012:L92F	ENSP00000338407:L295F	L	-	1	0	MKS1	53644770	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.501000	0.66950	1.615000	0.50252	0.637000	0.83480	CTC	MKS1	-	NULL	ENSG00000011143		0.493	MKS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MKS1	HGNC	protein_coding	OTTHUMT00000258015.2	80	0.00	0	G	NM_017777		56289771	56289771	-1	no_errors	ENST00000393119	ensembl	human	known	69_37n	missense	172	18.10	38	SNP	1.000	A
MKS1	54903	genome.wustl.edu	37	17	56291688	56291688	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:56291688C>G	ENST00000393119.2	-	6	650	c.576G>C	c.(574-576)agG>agC	p.R192S	MKS1_ENST00000546108.1_5'UTR|MKS1_ENST00000537529.2_Missense_Mutation_p.R182S|MKS1_ENST00000337050.7_Missense_Mutation_p.R192S|MKS1_ENST00000313863.6_Missense_Mutation_p.R192S	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	192					branching morphogenesis of an epithelial tube (GO:0048754)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)				endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CGTGGTTGTTCCTGACAAACT	0.557																																						dbGAP											0													117.0	121.0	120.0					17																	56291688		1999	4167	6166	-	-	-	SO:0001583	missense	0			DQ185029	CCDS11603.2, CCDS54148.1	17q21-q24	2014-09-17			ENSG00000011143	ENSG00000011143			7121	protein-coding gene	gene with protein product	"""POC12 centriolar protein homolog (Chlamydomonas)"""	609883		MKS		7550354, 16415886, 18327255	Standard	NM_017777		Approved	FLJ20345, POC12, BBS13	uc002ivr.2	Q9NXB0	OTTHUMG00000133714	ENST00000393119.2:c.576G>C	17.37:g.56291688C>G	ENSP00000376827:p.Arg192Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B7WNX4|F5H885|Q284T0|Q96G13	Missense_Mutation	SNP	pfam_B9_dom	p.R192S	ENST00000393119.2	37	c.576	CCDS11603.2	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.29|13.29	2.192347|2.192347	0.38707|0.38707	.|.	.|.	ENSG00000011143|ENSG00000011143	ENST00000313863|ENST00000537529;ENST00000393120;ENST00000393119;ENST00000337050	.|T;T;T	.|0.69926	.|-0.44;-0.42;-0.19	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	.|0.310848	.|0.43110	.|D	.|0.000611	T|T	0.63486|0.63486	0.2515|0.2515	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	.|P;B	.|0.37122	.|0.583;0.144	.|B;B	.|0.36289	.|0.221;0.093	T|T	0.68036|0.68036	-0.5515|-0.5515	5|10	.|0.72032	.|D	.|0.01	-22.8379|-22.8379	11.641|11.641	0.51233|0.51233	0.0:0.9187:0.0:0.0813|0.0:0.9187:0.0:0.0813	.|.	.|192;192	.|A8MPP8;Q9NXB0	.|.;MKS1_HUMAN	A|S	193|182;192;192;192	.|ENSP00000442096:R182S;ENSP00000376827:R192S;ENSP00000338407:R192S	.|ENSP00000338407:R192S	G|R	-|-	2|3	0|2	MKS1|MKS1	53646687|53646687	1.000000|1.000000	0.71417|0.71417	0.921000|0.921000	0.36526|0.36526	0.695000|0.695000	0.40330|0.40330	3.613000|3.613000	0.54152|0.54152	2.634000|2.634000	0.89283|0.89283	0.549000|0.549000	0.68633|0.68633	GGA|AGG	MKS1	-	NULL	ENSG00000011143		0.557	MKS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MKS1	HGNC	protein_coding	OTTHUMT00000258015.2	113	0.00	0	C	NM_017777		56291688	56291688	-1	no_errors	ENST00000393119	ensembl	human	known	69_37n	missense	251	13.75	40	SNP	1.000	G
MLF1	4291	genome.wustl.edu	37	3	158320635	158320635	+	Missense_Mutation	SNP	T	T	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:158320635T>C	ENST00000355893.5	+	6	746	c.608T>C	c.(607-609)gTt>gCt	p.V203A	MLF1_ENST00000359117.5_Missense_Mutation_p.V178A|MLF1_ENST00000497004.1_3'UTR|MLF1_ENST00000482628.1_Missense_Mutation_p.V178A|MLF1_ENST00000478894.2_Missense_Mutation_p.V193A|MLF1_ENST00000484955.1_Missense_Mutation_p.V178A|MLF1_ENST00000469452.1_Missense_Mutation_p.V135A|MLF1_ENST00000392822.3_Missense_Mutation_p.V234A|MLF1_ENST00000471745.1_Missense_Mutation_p.V193A	NM_022443.4	NP_071888.1	P58340	MLF1_HUMAN	myeloid leukemia factor 1	203					cell cycle arrest (GO:0007050)|myeloid progenitor cell differentiation (GO:0002318)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)			large_intestine(3)	3		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)			CAAAGTGAGGTTTTGAAGTAC	0.403			T	NPM1	AML																																	dbGAP		Dom	yes		3	3q25.1	4291	myeloid leukemia factor 1		L	0													118.0	113.0	115.0					3																	158320635		2203	4300	6503	-	-	-	SO:0001583	missense	0			L49054	CCDS3182.1, CCDS46945.1, CCDS56286.1, CCDS56287.1, CCDS56288.1	3q25	2008-07-18			ENSG00000178053	ENSG00000178053			7125	protein-coding gene	gene with protein product	"""myeloid leukemia factor 1 variant 1"", ""myeloid leukemia factor 1 variant 2"", ""myeloid leukemia factor 1 variant 3"""	601402				8570204	Standard	NM_022443		Approved		uc003fcb.3	P58340	OTTHUMG00000158775	ENST00000355893.5:c.608T>C	3.37:g.158320635T>C	ENSP00000348157:p.Val203Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PEU9|Q2TLE3|Q2TLE5|Q8N8F8|Q96MH1	Missense_Mutation	SNP	pfam_Myeloid_leukemia_factor	p.V234A	ENST00000355893.5	37	c.701	CCDS3182.1	3	.	.	.	.	.	.	.	.	.	.	T	17.08	3.296978	0.60086	.	.	ENSG00000178053	ENST00000491767;ENST00000355893;ENST00000484955;ENST00000359117;ENST00000498592;ENST00000471745;ENST00000469452;ENST00000482628;ENST00000478894;ENST00000392822	T;T;T;T;T;T;T;T;T;T	0.42131	1.09;1.01;1.02;1.02;1.04;1.07;0.98;1.02;1.07;1.07	5.6	5.6	0.85130	.	0.488686	0.22207	N	0.063147	T	0.43875	0.1267	L	0.39898	1.24	0.35861	D	0.827499	P;D;P	0.53462	0.709;0.96;0.709	B;P;B	0.54060	0.32;0.741;0.341	T	0.39683	-0.9602	10	0.02654	T	1	-5.9503	15.7826	0.78272	0.0:0.0:0.0:1.0	.	135;234;203	Q2TLE5;Q8N8F8;P58340	.;.;MLF1_HUMAN	A	129;203;178;178;158;193;135;178;193;234	ENSP00000420410:V129A;ENSP00000348157:V203A;ENSP00000417835:V178A;ENSP00000352025:V178A;ENSP00000419636:V158A;ENSP00000420134:V193A;ENSP00000418595:V135A;ENSP00000417141:V178A;ENSP00000417777:V193A;ENSP00000376568:V234A	ENSP00000348157:V203A	V	+	2	0	MLF1	159803329	1.000000	0.71417	0.943000	0.38184	0.979000	0.70002	4.902000	0.63266	2.142000	0.66516	0.477000	0.44152	GTT	MLF1	-	pfam_Myeloid_leukemia_factor	ENSG00000178053		0.403	MLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLF1	HGNC	protein_coding	OTTHUMT00000352164.3	109	0.91	1	T	NM_022443		158320635	158320635	+1	no_errors	ENST00000392822	ensembl	human	known	69_37n	missense	103	11.97	14	SNP	0.828	C
MLH3	27030	genome.wustl.edu	37	14	75515642	75515642	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:75515642G>A	ENST00000556740.1	-	1	752	c.717C>T	c.(715-717)atC>atT	p.I239I	MLH3_ENST00000355774.2_Silent_p.I239I|MLH3_ENST00000238662.7_Silent_p.I239I|MLH3_ENST00000544985.1_5'Flank|MLH3_ENST00000556257.1_Silent_p.I239I|MLH3_ENST00000555671.1_5'Flank|MLH3_ENST00000380968.2_5'UTR			Q9UHC1	MLH3_HUMAN	mutL homolog 3	239					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		CTTCAGAGCTGATATAGCCAC	0.313								Mismatch excision repair (MMR)																														dbGAP											0													33.0	34.0	33.0					14																	75515642		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"""mutL (E. coli) homolog 3"", ""mutL homolog 3 (E. coli)"""			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.717C>T	14.37:g.75515642G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	P49751|Q56DK9|Q9P292|Q9UHC0	Silent	SNP	pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_WW_Rsp5_WWP,smart_MutL_C	p.I239	ENST00000556740.1	37	c.717	CCDS32123.1	14																																																																																			MLH3	-	pfam_DNA_mismatch_repair_C,superfamily_Ribosomal_S5_D2-typ_fold	ENSG00000119684		0.313	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MLH3	HGNC	protein_coding	OTTHUMT00000415006.1	45	0.00	0	G	NM_014381		75515642	75515642	-1	no_errors	ENST00000355774	ensembl	human	known	69_37n	silent	33	26.67	12	SNP	1.000	A
KMT2A	4297	genome.wustl.edu	37	11	118376746	118376746	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:118376746C>T	ENST00000389506.5	+	27	10130	c.10130C>T	c.(10129-10131)tCa>tTa	p.S3377L	KMT2A_ENST00000534358.1_Missense_Mutation_p.S3380L|KMT2A_ENST00000354520.4_Missense_Mutation_p.S3339L			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3377					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										GATATTGGCTCAATAAGCAAT	0.498																																						dbGAP											0													135.0	142.0	140.0					11																	118376746		2200	4295	6495	-	-	-	SO:0001583	missense	0			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.10130C>T	11.37:g.118376746C>T	ENSP00000374157:p.Ser3377Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain	p.S3377L	ENST00000389506.5	37	c.10130	CCDS31686.1	11	.	.	.	.	.	.	.	.	.	.	C	16.56	3.158626	0.57368	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.83755	-1.75;-1.76;-1.72	5.92	5.92	0.95590	.	0.234865	0.39407	N	0.001366	D	0.83732	0.5318	L	0.48642	1.525	0.80722	D	1	P;P	0.50272	0.933;0.933	P;P	0.46479	0.518;0.518	D	0.84774	0.0769	10	0.66056	D	0.02	.	20.3151	0.98650	0.0:1.0:0.0:0.0	.	3380;3377	E9PQG7;Q03164	.;MLL1_HUMAN	L	3380;3377;3339;2287	ENSP00000436786:S3380L;ENSP00000374157:S3377L;ENSP00000346516:S3339L	ENSP00000346516:S3339L	S	+	2	0	MLL	117881956	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.739000	0.68622	2.809000	0.96659	0.467000	0.42956	TCA	MLL	-	pirsf_MeTrfase_trithorax	ENSG00000118058		0.498	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL	HGNC	protein_coding	OTTHUMT00000399085.2	33	0.00	0	C	NM_005933		118376746	118376746	+1	no_errors	ENST00000389506	ensembl	human	known	69_37n	missense	22	29.03	9	SNP	1.000	T
KMT2C	58508	genome.wustl.edu	37	7	151845982	151845982	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:151845982C>G	ENST00000262189.6	-	52	13248	c.13030G>C	c.(13030-13032)Gat>Cat	p.D4344H	KMT2C_ENST00000355193.2_Missense_Mutation_p.D4401H	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4344					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)										GGCCTGCAATCTTCAAACCCA	0.478																																						dbGAP											0													64.0	60.0	62.0					7																	151845982		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.13030G>C	7.37:g.151845982C>G	ENSP00000262189:p.Asp4344His	Somatic		WXS	Illumina GAIIx	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.D4401H	ENST00000262189.6	37	c.13201	CCDS5931.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.21|10.21	1.286952|1.286952	0.23478|0.23478	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000424877|ENST00000360104	D;D;D|.	0.88975|.	-1.79;-1.78;-2.45|.	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	0.000000|.	0.45867|.	U|.	0.000326|.	T|T	0.75421|0.75421	0.3847|0.3847	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.996;1.0;1.0|.	D;D;D|.	0.76575|.	0.926;0.988;0.988|.	T|T	0.73011|0.73011	-0.4117|-0.4117	10|5	0.66056|.	D|.	0.02|.	.|.	19.7589|19.7589	0.96306|0.96306	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	4344;3462;4401|.	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3|.	MLL3_HUMAN;.;.|.	H|T	4344;4401;961|1904	ENSP00000262189:D4344H;ENSP00000347325:D4401H;ENSP00000410411:D961H|.	ENSP00000262189:D4344H|.	D|R	-|-	1|2	0|0	MLL3|MLL3	151476915|151476915	0.999000|0.999000	0.42202|0.42202	0.113000|0.113000	0.21522|0.21522	0.572000|0.572000	0.35998|0.35998	5.584000|5.584000	0.67490|0.67490	2.670000|2.670000	0.90874|0.90874	0.650000|0.650000	0.86243|0.86243	GAT|AGA	MLL3	-	NULL	ENSG00000055609		0.478	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	89	0.00	0	C			151845982	151845982	-1	no_errors	ENST00000355193	ensembl	human	known	69_37n	missense	77	27.36	29	SNP	0.907	G
KMT2C	58508	genome.wustl.edu	37	7	151859492	151859492	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:151859492C>T	ENST00000262189.6	-	43	11388	c.11170G>A	c.(11170-11172)Gag>Aag	p.E3724K	KMT2C_ENST00000355193.2_Missense_Mutation_p.E3724K	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3724					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)										GACTCTGTCTCAGCCTTTTCC	0.473																																						dbGAP											0													173.0	177.0	175.0					7																	151859492		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.11170G>A	7.37:g.151859492C>T	ENSP00000262189:p.Glu3724Lys	Somatic		WXS	Illumina GAIIx	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.E3724K	ENST00000262189.6	37	c.11170	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	C	19.31	3.802288	0.70682	.	.	ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000424877	D;D;D	0.90788	-1.91;-1.89;-2.73	5.51	5.51	0.81932	.	0.151024	0.29715	U	0.011393	D	0.90563	0.7042	L	0.59436	1.845	0.80722	D	1	P;P;P	0.49559	0.877;0.868;0.925	B;B;B	0.44163	0.339;0.443;0.443	D	0.91217	0.5003	10	0.56958	D	0.05	.	19.4545	0.94882	0.0:1.0:0.0:0.0	.	3724;2785;3724	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	MLL3_HUMAN;.;.	K	3724;3724;310	ENSP00000262189:E3724K;ENSP00000347325:E3724K;ENSP00000410411:E310K	ENSP00000262189:E3724K	E	-	1	0	MLL3	151490425	1.000000	0.71417	0.168000	0.22838	0.510000	0.34073	5.743000	0.68655	2.590000	0.87494	0.650000	0.86243	GAG	MLL3	-	NULL	ENSG00000055609		0.473	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	114	0.00	0	C			151859492	151859492	-1	no_errors	ENST00000355193	ensembl	human	known	69_37n	missense	116	20.55	30	SNP	0.998	T
KMT2C	58508	genome.wustl.edu	37	7	151860872	151860872	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:151860872C>T	ENST00000262189.6	-	43	10008	c.9790G>A	c.(9790-9792)Gat>Aat	p.D3264N	KMT2C_ENST00000355193.2_Missense_Mutation_p.D3264N	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3264	Gln-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)										ATCCGATAATCTTCAATCAAT	0.448																																						dbGAP											0													174.0	151.0	158.0					7																	151860872		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.9790G>A	7.37:g.151860872C>T	ENSP00000262189:p.Asp3264Asn	Somatic		WXS	Illumina GAIIx	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.D3264N	ENST00000262189.6	37	c.9790	CCDS5931.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.45|18.45	3.627503|3.627503	0.66901|0.66901	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193|ENST00000360104	D;D|.	0.84800|.	-1.9;-1.9|.	5.02|5.02	5.02|5.02	0.67125|0.67125	.|.	0.136056|.	0.32640|.	N|.	0.005825|.	T|T	0.69637|0.69637	0.3133|0.3133	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	P;D;P|.	0.63046|.	0.835;0.992;0.873|.	B;D;P|.	0.69824|.	0.42;0.966;0.599|.	T|T	0.67352|0.67352	-0.5692|-0.5692	10|5	0.72032|.	D|.	0.01|.	.|.	18.3749|18.3749	0.90432|0.90432	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	3264;2325;3264|.	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3|.	MLL3_HUMAN;.;.|.	N|K	3264|769	ENSP00000262189:D3264N;ENSP00000347325:D3264N|.	ENSP00000262189:D3264N|.	D|R	-|-	1|2	0|0	MLL3|MLL3	151491805|151491805	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.791000|0.791000	0.44710|0.44710	7.814000|7.814000	0.86154|0.86154	2.326000|2.326000	0.78906|0.78906	0.655000|0.655000	0.94253|0.94253	GAT|AGA	MLL3	-	NULL	ENSG00000055609		0.448	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	145	0.00	0	C			151860872	151860872	-1	no_errors	ENST00000355193	ensembl	human	known	69_37n	missense	123	20.65	32	SNP	1.000	T
KMT2C	58508	genome.wustl.edu	37	7	151877802	151877802	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:151877802C>T	ENST00000262189.6	-	36	7361	c.7143G>A	c.(7141-7143)ttG>ttA	p.L2381L	KMT2C_ENST00000355193.2_Silent_p.L2381L	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2381					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)										TTACCTGTCTCAATTTCTCTG	0.378																																						dbGAP											0													63.0	61.0	62.0					7																	151877802		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.7143G>A	7.37:g.151877802C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	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_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.L2381	ENST00000262189.6	37	c.7143	CCDS5931.1	7																																																																																			MLL3	-	NULL	ENSG00000055609		0.378	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	63	0.00	0	C			151877802	151877802	-1	no_errors	ENST00000355193	ensembl	human	known	69_37n	silent	64	20.00	16	SNP	0.876	T
KMT2C	58508	genome.wustl.edu	37	7	151917668	151917668	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:151917668G>A	ENST00000262189.6	-	23	3870	c.3652C>T	c.(3652-3654)Cag>Tag	p.Q1218*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.Q1218*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1218					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)										GGAGGGGTCTGAAGGACGGCC	0.393																																						dbGAP											0													79.0	75.0	76.0					7																	151917668		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.3652C>T	7.37:g.151917668G>A	ENSP00000262189:p.Gln1218*	Somatic		WXS	Illumina GAIIx	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.Q1218*	ENST00000262189.6	37	c.3652	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	G	44	10.808691	0.99470	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	4.44	4.44	0.53790	.	0.000000	0.41605	U	0.000844	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	17.4147	0.87496	0.0:0.0:1.0:0.0	.	.	.	.	X	1218	.	ENSP00000262189:Q1218X	Q	-	1	0	MLL3	151548601	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.351000	0.97073	2.161000	0.67846	0.484000	0.47621	CAG	MLL3	-	NULL	ENSG00000055609		0.393	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	178	0.00	0	G			151917668	151917668	-1	no_errors	ENST00000355193	ensembl	human	known	69_37n	nonsense	116	38.30	72	SNP	1.000	A
KMT2B	9757	genome.wustl.edu	37	19	36211033	36211033	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:36211033C>T	ENST00000222270.7	+	3	784	c.784C>T	c.(784-786)Cag>Tag	p.Q262*	KMT2B_ENST00000341701.1_Nonsense_Mutation_p.Q262*|KMT2B_ENST00000420124.1_Nonsense_Mutation_p.Q262*|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	262					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										AGTGAAACATCAGACTGGCAG	0.642																																						dbGAP											0													21.0	30.0	27.0					19																	36211033		1997	4154	6151	-	-	-	SO:0001587	stop_gained	0			AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.784C>T	19.37:g.36211033C>T	ENSP00000222270:p.Gln262*	Somatic		WXS	Illumina GAIIx	Phase_IV	O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Nonsense_Mutation	SNP	pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,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_CXXC	p.Q262*	ENST00000222270.7	37	c.784	CCDS46055.1	19	.	.	.	.	.	.	.	.	.	.	C	12.71	2.019598	0.35606	.	.	ENSG00000105663	ENST00000222270;ENST00000420124;ENST00000341701	.	.	.	5.48	1.82	0.25136	.	0.562774	0.13596	N	0.376223	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.6175	0.45458	0.5293:0.4707:0.0:0.0	.	.	.	.	X	262	.	ENSP00000222270:Q262X	Q	+	1	0	AD000671.1	40902873	0.065000	0.20965	0.980000	0.43619	0.319000	0.28217	0.560000	0.23500	0.590000	0.29694	0.561000	0.74099	CAG	MLL4	-	pirsf_MeTrfase_trithorax	ENSG00000105663		0.642	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL4	Clone_based_vega_gene	protein_coding		23	0.00	0	C	NM_014727		36211033	36211033	+1	no_errors	ENST00000222270	ensembl	human	known	69_37n	nonsense	22	26.67	8	SNP	0.849	T
KMT2B	9757	genome.wustl.edu	37	19	36216490	36216490	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:36216490C>T	ENST00000222270.7	+	12	3753	c.3753C>T	c.(3751-3753)ttC>ttT	p.F1251F	KMT2B_ENST00000420124.1_Silent_p.F1251F|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1251					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										GCTGCAAATTCTGCCACGTCT	0.642																																						dbGAP											0													101.0	109.0	107.0					19																	36216490		2092	4203	6295	-	-	-	SO:0001819	synonymous_variant	0			AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.3753C>T	19.37:g.36216490C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Silent	SNP	pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,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_CXXC	p.F1251	ENST00000222270.7	37	c.3753	CCDS46055.1	19																																																																																			MLL4	-	pirsf_MeTrfase_trithorax,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	ENSG00000105663		0.642	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL4	Clone_based_vega_gene	protein_coding		64	0.00	0	C	NM_014727		36216490	36216490	+1	no_errors	ENST00000222270	ensembl	human	known	69_37n	silent	45	30.77	20	SNP	1.000	T
MLLT10	8028	genome.wustl.edu	37	10	22021986	22021986	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:22021986C>A	ENST00000307729.7	+	18	2555	c.2377C>A	c.(2377-2379)Cat>Aat	p.H793N	MLLT10_ENST00000377059.3_Missense_Mutation_p.H793N|MLLT10_ENST00000377072.3_Missense_Mutation_p.H809N|MLLT10_ENST00000446906.2_Missense_Mutation_p.H793N			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	793					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						TAGTCCGTCTCATCAAATACA	0.338			T	"""MLL, PICALM, CDK6"""	AL																																	dbGAP		Dom	yes		10	10p12	8028	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"""		L	0													99.0	94.0	96.0					10																	22021986		2203	4300	6503	-	-	-	SO:0001583	missense	0			U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"""Zinc fingers, PHD-type"""	16063	protein-coding gene	gene with protein product		602409	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"""			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.2377C>A	10.37:g.22021986C>A	ENSP00000307411:p.His793Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B1ANA8|Q5JT37|Q5VX90|Q66K63	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.H793N	ENST00000307729.7	37	c.2377	CCDS55708.1	10	.	.	.	.	.	.	.	.	.	.	C	7.874	0.728720	0.15507	.	.	ENSG00000078403	ENST00000377072;ENST00000446906;ENST00000307729;ENST00000396529;ENST00000377059	T;T;T;T	0.16196	2.38;2.36;2.4;2.36	6.01	6.01	0.97437	.	0.349704	0.33895	N	0.004458	T	0.12774	0.0310	N	0.24115	0.695	0.49798	D	0.999821	P;B;B;B	0.41848	0.763;0.361;0.094;0.361	B;B;B;B	0.39027	0.288;0.058;0.016;0.081	T	0.03060	-1.1077	10	0.02654	T	1	.	20.5182	0.99214	0.0:1.0:0.0:0.0	.	488;793;793;809	Q5HYC6;E9PBP4;Q5VX90;P55197	.;.;.;AF10_HUMAN	N	809;793;793;628;793	ENSP00000366272:H809N;ENSP00000401406:H793N;ENSP00000307411:H793N;ENSP00000366258:H793N	ENSP00000307411:H793N	H	+	1	0	MLLT10	22061992	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.256000	0.65468	2.860000	0.98153	0.655000	0.94253	CAT	MLLT10	-	NULL	ENSG00000078403		0.338	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLLT10	HGNC	protein_coding	OTTHUMT00000047136.1	100	0.00	0	C			22021986	22021986	+1	no_errors	ENST00000307729	ensembl	human	known	69_37n	missense	95	20.83	25	SNP	1.000	A
MLLT4	4301	genome.wustl.edu	37	6	168323592	168323592	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:168323592G>C	ENST00000447894.2	+	21	2944	c.2944G>C	c.(2944-2946)Gaa>Caa	p.E982Q	MLLT4_ENST00000351017.4_Missense_Mutation_p.E989Q|MLLT4_ENST00000400822.3_Missense_Mutation_p.E981Q|MLLT4_ENST00000344191.4_Missense_Mutation_p.E982Q|MLLT4_ENST00000392108.3_Missense_Mutation_p.E982Q|MLLT4_ENST00000366806.2_Missense_Mutation_p.E982Q|MLLT4_ENST00000392112.1_Missense_Mutation_p.E966Q			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	982					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		AATATATTTTGAAGGTGCAGA	0.403			T	MLL	AL																																	dbGAP		Dom	yes		6	6q27	4301	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""		L	0													158.0	146.0	150.0					6																	168323592		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.2944G>C	6.37:g.168323592G>C	ENSP00000404595:p.Glu982Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc	p.E982Q	ENST00000447894.2	37	c.2944		6	.	.	.	.	.	.	.	.	.	.	G	25.1	4.602694	0.87157	.	.	ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894;ENST00000497596	T;T;T;T;T;T;T	0.04706	3.78;3.67;3.78;3.77;3.57;3.67;3.67	6.0	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.05868	0.0153	L	0.44542	1.39	0.58432	D	0.999997	D;D;D;D	0.60575	0.962;0.98;0.988;0.988	P;P;P;P	0.58660	0.767;0.817;0.705;0.843	T	0.50849	-0.8779	10	0.22706	T	0.39	-5.5628	15.1275	0.72494	0.0677:0.0:0.9323:0.0	.	982;981;982;966	P55196;P55196-5;P55196-6;P55196-2	AFAD_HUMAN;.;.;.	Q	982;989;982;982;966;982;981;982;145	ENSP00000341118:E982Q;ENSP00000252692:E989Q;ENSP00000375956:E982Q;ENSP00000355771:E982Q;ENSP00000375960:E966Q;ENSP00000383623:E981Q;ENSP00000404595:E982Q	ENSP00000345834:E982Q	E	+	1	0	MLLT4	168066441	1.000000	0.71417	0.944000	0.38274	0.998000	0.95712	9.027000	0.93706	1.536000	0.49237	0.655000	0.94253	GAA	MLLT4	-	NULL	ENSG00000130396		0.403	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	MLLT4	HGNC	protein_coding	OTTHUMT00000372077.1	123	0.00	0	G	NM_005936		168323592	168323592	+1	no_errors	ENST00000366806	ensembl	human	known	69_37n	missense	83	19.42	20	SNP	1.000	C
MLLT4	4301	genome.wustl.edu	37	6	168348607	168348607	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:168348607G>A	ENST00000447894.2	+	27	3607	c.3607G>A	c.(3607-3609)Gga>Aga	p.G1203R	MLLT4_ENST00000351017.4_Missense_Mutation_p.G1210R|MLLT4_ENST00000400822.3_Missense_Mutation_p.G1202R|MLLT4_ENST00000344191.4_Missense_Mutation_p.G1203R|MLLT4_ENST00000392108.3_Missense_Mutation_p.G1203R|MLLT4_ENST00000366806.2_Missense_Mutation_p.G1203R|MLLT4_ENST00000392112.1_Missense_Mutation_p.G1186R			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1203					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TGTCTCTACTGGAAACCTCTG	0.448			T	MLL	AL																																	dbGAP		Dom	yes		6	6q27	4301	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""		L	0													91.0	81.0	85.0					6																	168348607		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.3607G>A	6.37:g.168348607G>A	ENSP00000404595:p.Gly1203Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc	p.G1203R	ENST00000447894.2	37	c.3607		6	.	.	.	.	.	.	.	.	.	.	G	22.7	4.324175	0.81580	.	.	ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894	T;T;T;T;T;T;T	0.04862	3.75;3.62;3.74;3.73;3.54;3.64;3.62	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.15609	0.0376	M	0.72479	2.2	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;0.999;0.999	P;D;D;D	0.97110	0.9;1.0;0.984;0.984	T	0.10042	-1.0647	10	0.15952	T	0.53	-0.0277	19.6614	0.95875	0.0:0.0:1.0:0.0	.	1203;1202;1203;1187	P55196;P55196-5;P55196-6;P55196-2	AFAD_HUMAN;.;.;.	R	1203;1210;1203;1203;1186;1203;1202;1203	ENSP00000341118:G1203R;ENSP00000252692:G1210R;ENSP00000375956:G1203R;ENSP00000355771:G1203R;ENSP00000375960:G1186R;ENSP00000383623:G1202R;ENSP00000404595:G1203R	ENSP00000345834:G1203R	G	+	1	0	MLLT4	168091456	1.000000	0.71417	0.256000	0.24389	0.943000	0.58893	8.832000	0.92079	2.633000	0.89246	0.655000	0.94253	GGA	MLLT4	-	NULL	ENSG00000130396		0.448	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	MLLT4	HGNC	protein_coding	OTTHUMT00000372077.1	53	0.00	0	G	NM_005936		168348607	168348607	+1	no_errors	ENST00000366806	ensembl	human	known	69_37n	missense	44	18.52	10	SNP	0.999	A
MLLT6	4302	genome.wustl.edu	37	17	36871922	36871922	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:36871922G>A	ENST00000325718.7	+	9	968	c.877G>A	c.(877-879)Gag>Aag	p.E293K	CTB-58E17.9_ENST00000579499.1_RNA	NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	293					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					GGAGACCTCTGAGAGCAGCAG	0.557			T	MLL	AL																																	dbGAP		Dom	yes		17	17q21	4302	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (AF17)"""		L	0													106.0	97.0	100.0					17																	36871922		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11327.1	17q21	2014-04-10	2001-11-28		ENSG00000108292	ENSG00000275023		"""Zinc fingers, PHD-type"""	7138	protein-coding gene	gene with protein product	"""Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6"", ""trithorax homolog"""	600328	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 6"""			8058765	Standard	NM_005937		Approved	AF17, FLJ23480	uc002hqi.4	P55198	OTTHUMG00000188498	ENST00000325718.7:c.877G>A	17.37:g.36871922G>A	ENSP00000316426:p.Glu293Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q59F28|Q96IU3|Q9H5F6|Q9UF49	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.E293K	ENST00000325718.7	37	c.877	CCDS11327.1	17	.	.	.	.	.	.	.	.	.	.	G	20.7	4.032579	0.75504	.	.	ENSG00000108292	ENST00000325718	D	0.81739	-1.53	4.91	4.91	0.64330	.	1.572910	0.03221	N	0.177619	D	0.86948	0.6056	L	0.44542	1.39	0.40213	D	0.977643	P	0.52842	0.956	P	0.62184	0.899	T	0.73981	-0.3811	10	0.30078	T	0.28	.	14.944	0.71016	0.0:0.0:1.0:0.0	.	293	P55198	AF17_HUMAN	K	293	ENSP00000316426:E293K	ENSP00000316426:E293K	E	+	1	0	MLLT6	34125448	1.000000	0.71417	0.994000	0.49952	0.948000	0.59901	6.290000	0.72712	2.571000	0.86741	0.563000	0.77884	GAG	MLLT6	-	NULL	ENSG00000108292		0.557	MLLT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLLT6	HGNC	protein_coding	OTTHUMT00000256799.1	100	0.00	0	G	NM_005937		36871922	36871922	+1	no_errors	ENST00000325718	ensembl	human	known	69_37n	missense	75	26.47	27	SNP	0.998	A
MLNR	2862	genome.wustl.edu	37	13	49796261	49796261	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr13:49796261G>T	ENST00000218721.1	+	2	987	c.987G>T	c.(985-987)atG>atT	p.M329I	MLNR_ENST00000398307.1_Missense_Mutation_p.D380Y	NM_001507.1	NP_001498.1	O43193	MTLR_HUMAN	motilin receptor	329					digestion (GO:0007586)|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)|growth hormone-releasing hormone receptor activity (GO:0016520)			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		ATTCGCGGATGATGTACTTCT	0.423																																						dbGAP											0													194.0	180.0	185.0					13																	49796261		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF034632	CCDS9414.1	13q14-q21	2012-08-08	2004-05-27	2004-05-28	ENSG00000102539	ENSG00000102539		"""GPCR / Class A : Motilin receptors"""	4495	protein-coding gene	gene with protein product		602885	"""G protein-coupled receptor 38"""	GPR38		9441746	Standard	NM_001507		Approved		uc010tgj.2	O43193	OTTHUMG00000016909	ENST00000218721.1:c.987G>T	13.37:g.49796261G>T	ENSP00000218721:p.Met329Ile	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_GHS1_rcpt	p.M329I	ENST00000218721.1	37	c.987	CCDS9414.1	13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.256|7.256	0.604210|0.604210	0.14002|0.14002	.|.	.|.	ENSG00000102539|ENSG00000102539	ENST00000398307|ENST00000218721	T|T	0.74421|0.71698	-0.84|-0.59	5.19|5.19	1.32|1.32	0.21799|0.21799	.|GPCR, rhodopsin-like superfamily (1);	.|0.353403	.|0.28712	.|U	.|0.014382	T|T	0.43122|0.43122	0.1233|0.1233	N|N	0.10645|0.10645	0.015|0.015	0.21719|0.21719	N|N	0.999575|0.999575	.|B	.|0.30563	.|0.285	.|B	.|0.28916	.|0.096	T|T	0.26573|0.26573	-1.0099|-1.0099	7|10	0.87932|0.21540	D|T	0|0.41	.|.	6.6254|6.6254	0.22826|0.22826	0.1441:0.0:0.602:0.2539|0.1441:0.0:0.602:0.2539	.|.	.|329	.|O43193	.|MTLR_HUMAN	Y|I	380|329	ENSP00000381352:D380Y|ENSP00000218721:M329I	ENSP00000381352:D380Y|ENSP00000218721:M329I	D|M	+|+	1|3	0|0	MLNR|MLNR	48694262|48694262	1.000000|1.000000	0.71417|0.71417	0.103000|0.103000	0.21229|0.21229	0.915000|0.915000	0.54546|0.54546	3.147000|3.147000	0.50639|0.50639	0.252000|0.252000	0.21531|0.21531	0.650000|0.650000	0.86243|0.86243	GAT|ATG	MLNR	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_supfam	ENSG00000102539		0.423	MLNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLNR	HGNC	protein_coding	OTTHUMT00000044897.1	83	0.00	0	G	NM_001507		49796261	49796261	+1	no_errors	ENST00000218721	ensembl	human	known	69_37n	missense	75	21.88	21	SNP	0.937	T
MLXIPL	51085	genome.wustl.edu	37	7	73021642	73021642	+	Intron	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:73021642C>T	ENST00000313375.3	-	4	621				MLXIPL_ENST00000354613.1_Intron|MLXIPL_ENST00000429400.2_Intron|MLXIPL_ENST00000414749.2_Intron|MLXIPL_ENST00000395189.1_Intron|MLXIPL_ENST00000434326.1_Intron	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	MLXPL_HUMAN	MLX interacting protein-like						anatomical structure morphogenesis (GO:0009653)|energy reserve metabolic process (GO:0006112)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|glucose mediated signaling pathway (GO:0010255)|intracellular signal transduction (GO:0035556)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of glycolytic process (GO:0045821)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	carbohydrate response element binding (GO:0035538)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				TGGGGCCTCCCTGGCCCTCCC	0.667											OREG0018107	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													23.0	25.0	24.0					7																	73021642		2169	4255	6424	-	-	-	SO:0001627	intron_variant	0			AK055029	CCDS5553.1, CCDS5554.1, CCDS47605.1, CCDS47606.1	7q11.23	2013-05-21	2005-10-31	2005-10-31	ENSG00000009950	ENSG00000009950			12744	protein-coding gene	gene with protein product	"""carbohydrate response element binding protein"""	605678	"""Williams Beuren syndrome chromosome region 14"""	WBSCR14		9860302	Standard	XM_005250399		Approved	WS-bHLH, MIO, CHREBP, MONDOB, bHLHd14	uc003tyn.1	Q9NP71	OTTHUMG00000129995	ENST00000313375.3:c.573+18G>A	7.37:g.73021642C>T		Somatic	1142	WXS	Illumina GAIIx	Phase_IV	C5HU02|C5HU03|C5HU04|Q96E48|Q9BY03|Q9BY04|Q9BY05|Q9BY06|Q9Y2P3	Missense_Mutation	SNP	NULL	p.G95R	ENST00000313375.3	37	c.283	CCDS5553.1	7	.	.	.	.	.	.	.	.	.	.	C	14.29	2.491266	0.44249	.	.	ENSG00000009950	ENST00000456640	T	0.32272	1.46	3.91	1.96	0.26148	.	.	.	.	.	T	0.16854	0.0405	.	.	.	0.18873	N	0.999989	.	.	.	.	.	.	T	0.19484	-1.0304	6	0.18276	T	0.48	.	4.6129	0.12411	0.0:0.6441:0.2291:0.1269	.	.	.	.	R	95	ENSP00000402615:G95R	ENSP00000402615:G95R	G	-	1	0	MLXIPL	72659578	0.000000	0.05858	0.010000	0.14722	0.027000	0.11550	-2.408000	0.01042	2.022000	0.59522	0.511000	0.50034	GGG	MLXIPL	-	NULL	ENSG00000009950		0.667	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLXIPL	HGNC	protein_coding	OTTHUMT00000252262.1	20	0.00	0	C	NM_032951		73021642	73021642	-1	no_start_codon:no_stop_codon:bad_bp_length_for_coding_region	ENST00000456640	ensembl	human	putative	69_37n	missense	28	22.22	8	SNP	0.001	T
MME	4311	genome.wustl.edu	37	3	154862220	154862220	+	Missense_Mutation	SNP	G	G	C	rs200864897		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:154862220G>C	ENST00000460393.1	+	14	1510	c.1390G>C	c.(1390-1392)Gag>Cag	p.E464Q	MME_ENST00000492661.1_Missense_Mutation_p.E464Q|MME_ENST00000493237.1_Missense_Mutation_p.E464Q|MME_ENST00000360490.2_Missense_Mutation_p.E464Q|MME_ENST00000462745.1_Missense_Mutation_p.E464Q	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	464					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	GATGGATGCCGAGACAAAAAA	0.353																																						dbGAP											0													80.0	82.0	81.0					3																	154862220		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.1390G>C	3.37:g.154862220G>C	ENSP00000418525:p.Glu464Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.E464Q	ENST00000460393.1	37	c.1390	CCDS3172.1	3	.	.	.	.	.	.	.	.	.	.	G	9.769	1.172103	0.21704	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000462745;ENST00000493237;ENST00000360490	D;D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85;-1.85	5.91	5.91	0.95273	Peptidase M13 (1);Metallopeptidase, catalytic domain (1);	0.172473	0.52532	D	0.000068	T	0.80149	0.4570	L	0.41027	1.25	0.46954	D	0.999263	B	0.19935	0.04	B	0.20577	0.03	T	0.74607	-0.3609	10	0.42905	T	0.14	-31.9832	13.4829	0.61348	0.0708:0.0:0.9291:0.0	.	464	P08473	NEP_HUMAN	Q	464	ENSP00000420389:E464Q;ENSP00000418525:E464Q;ENSP00000419653:E464Q;ENSP00000417079:E464Q;ENSP00000353679:E464Q	ENSP00000353679:E464Q	E	+	1	0	MME	156344914	1.000000	0.71417	0.993000	0.49108	0.058000	0.15608	3.742000	0.55097	2.793000	0.96121	0.655000	0.94253	GAG	MME	-	pfam_Peptidase_M13_N	ENSG00000196549		0.353	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MME	HGNC	protein_coding	OTTHUMT00000351076.1	154	0.00	0	G	NM_000902		154862220	154862220	+1	no_errors	ENST00000360490	ensembl	human	known	69_37n	missense	123	12.14	17	SNP	0.997	C
MMEL1	79258	genome.wustl.edu	37	1	2541172	2541172	+	Missense_Mutation	SNP	C	C	G	rs548411329		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:2541172C>G	ENST00000378412.3	-	5	552	c.391G>C	c.(391-393)Gag>Cag	p.E131Q	MMEL1_ENST00000288709.6_Missense_Mutation_p.E122Q|MMEL1_ENST00000502556.1_Missense_Mutation_p.E131Q			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	131						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		GAGTTGGTCTCAGGGATCACG	0.617																																						dbGAP											0													102.0	81.0	88.0					1																	2541172		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"""membrane metallo-endopeptidase-like 2"""	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.391G>C	1.37:g.2541172C>G	ENSP00000367668:p.Glu131Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.E131Q	ENST00000378412.3	37	c.391	CCDS30569.2	1	.	.	.	.	.	.	.	.	.	.	c	32	5.183390	0.94885	.	.	ENSG00000142606	ENST00000378411;ENST00000288709;ENST00000378412;ENST00000502556	T;T;T	0.75589	-0.95;-0.95;-0.95	5.29	5.29	0.74685	Peptidase M13 (1);	0.000000	0.85682	D	0.000000	D	0.87018	0.6073	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.88736	0.3240	10	0.87932	D	0	-44.3727	17.8954	0.88886	0.0:1.0:0.0:0.0	.	131	Q495T6	MMEL1_HUMAN	Q	131;122;131;131	ENSP00000288709:E122Q;ENSP00000367668:E131Q;ENSP00000422492:E131Q	ENSP00000288709:E122Q	E	-	1	0	MMEL1	2531032	1.000000	0.71417	0.983000	0.44433	0.957000	0.61999	7.639000	0.83342	2.452000	0.82932	0.555000	0.69702	GAG	MMEL1	-	pfam_Peptidase_M13_N	ENSG00000142606		0.617	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMEL1	HGNC	protein_coding	OTTHUMT00000002395.2	34	0.00	0	C	NM_033467		2541172	2541172	-1	no_errors	ENST00000378412	ensembl	human	known	69_37n	missense	27	30.77	12	SNP	1.000	G
MMP14	4323	genome.wustl.edu	37	14	23311917	23311917	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:23311917G>A	ENST00000311852.6	+	4	940	c.679G>A	c.(679-681)Gat>Aat	p.D227N	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	227					angiogenesis (GO:0001525)|astrocyte cell migration (GO:0043615)|branching morphogenesis of an epithelial tube (GO:0048754)|chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|endodermal cell differentiation (GO:0035987)|endothelial cell proliferation (GO:0001935)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of focal adhesion assembly (GO:0051895)|ovarian follicle development (GO:0001541)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|tissue remodeling (GO:0048771)|zymogen activation (GO:0031638)	extracellular matrix (GO:0031012)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|peptidase activator activity (GO:0016504)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)	Marimastat(DB00786)	CAGGAATGAGGATCTGAATGG	0.557																																						dbGAP											0													85.0	84.0	84.0					14																	23311917		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9577.1	14q11-q12	2011-06-29	2005-08-08		ENSG00000157227	ENSG00000157227			7160	protein-coding gene	gene with protein product	"""membrane type 1 metalloprotease"""	600754	"""matrix metalloproteinase 14 (membrane-inserted)"""			8015608	Standard	NM_004995		Approved	MT1-MMP	uc001whc.3	P50281	OTTHUMG00000028704	ENST00000311852.6:c.679G>A	14.37:g.23311917G>A	ENSP00000308208:p.Asp227Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5L0|Q6GSF3|Q92678	Missense_Mutation	SNP	pirsf_Pept_M10A_matrix_strom,pfam_Hemopexin/matrixin_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,prints_Pept_M10A_matrixin	p.D227N	ENST00000311852.6	37	c.679	CCDS9577.1	14	.	.	.	.	.	.	.	.	.	.	G	9.863	1.196737	0.22037	.	.	ENSG00000157227	ENST00000311852	T	0.21932	1.98	5.67	4.78	0.61160	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.143610	0.64402	D	0.000008	T	0.13243	0.0321	N	0.16862	0.45	0.58432	D	0.999995	B	0.13594	0.008	B	0.14023	0.01	T	0.08597	-1.0714	10	0.16420	T	0.52	.	13.77	0.63019	0.0753:0.0:0.9247:0.0	.	227	P50281	MMP14_HUMAN	N	227	ENSP00000308208:D227N	ENSP00000308208:D227N	D	+	1	0	MMP14	22381757	1.000000	0.71417	1.000000	0.80357	0.684000	0.39900	4.941000	0.63540	1.415000	0.47037	-0.137000	0.14449	GAT	MMP14	-	pirsf_Pept_M10A_matrix_strom,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo	ENSG00000157227		0.557	MMP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP14	HGNC	protein_coding	OTTHUMT00000071660.3	28	0.00	0	G	NM_004995		23311917	23311917	+1	no_errors	ENST00000311852	ensembl	human	known	69_37n	missense	40	14.89	7	SNP	1.000	A
MMP19	4327	genome.wustl.edu	37	12	56236193	56236193	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:56236193C>T	ENST00000322569.4	-	2	208	c.117G>A	c.(115-117)caG>caA	p.Q39Q	MMP19_ENST00000547487.1_5'UTR|MMP19_ENST00000548629.1_Silent_p.Q39Q|MMP19_ENST00000409200.3_Silent_p.Q39Q	NM_002429.4	NP_002420.1	Q99542	MMP19_HUMAN	matrix metallopeptidase 19	39					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|luteolysis (GO:0001554)|ovarian follicle development (GO:0001541)|ovulation from ovarian follicle (GO:0001542)|proteolysis (GO:0006508)|response to cAMP (GO:0051591)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26					Marimastat(DB00786)	CTAGAGGCTTCTGTAGGTACC	0.458																																						dbGAP											0													153.0	133.0	140.0					12																	56236193		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X92521	CCDS8895.1, CCDS61146.1	12q14	2005-08-08	2005-08-08			ENSG00000123342			7165	protein-coding gene	gene with protein product		601807	"""matrix metalloproteinase 19"""	MMP18		9232430	Standard	NM_002429		Approved	RASI-1	uc001sib.4	Q99542	OTTHUMG00000170216	ENST00000322569.4:c.117G>A	12.37:g.56236193C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E030|O15278|O95606|Q99580	Silent	SNP	pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin	p.Q39	ENST00000322569.4	37	c.117	CCDS8895.1	12																																																																																			MMP19	-	pfam_Peptidoglycan-bd-like,superfamily_Peptidoglycan-bd-like,pirsf_Pept_M10A_matrix_strom	ENSG00000123342		0.458	MMP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP19	HGNC	protein_coding	OTTHUMT00000408023.1	119	0.00	0	C	NM_002429		56236193	56236193	-1	no_errors	ENST00000322569	ensembl	human	known	69_37n	silent	115	26.75	42	SNP	1.000	T
MMP2	4313	genome.wustl.edu	37	16	55523672	55523672	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:55523672G>C	ENST00000219070.4	+	7	1625	c.1116G>C	c.(1114-1116)aaG>aaC	p.K372N	MMP2_ENST00000570308.1_Missense_Mutation_p.K296N|MMP2_ENST00000437642.2_Missense_Mutation_p.K322N|MMP2_ENST00000543485.1_Missense_Mutation_p.K296N	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	372	Collagen-binding.|Fibronectin type-II 3. {ECO:0000255|PROSITE-ProRule:PRU00479}.				angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	GTGACGGAAAGATGTGGTGTG	0.587																																						dbGAP											0													111.0	95.0	101.0					16																	55523672		2198	4300	6498	-	-	-	SO:0001583	missense	0				CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"""matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)"", ""matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"""	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.1116G>C	16.37:g.55523672G>C	ENSP00000219070:p.Lys372Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin/matrixin_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A_matrixin	p.K372N	ENST00000219070.4	37	c.1116	CCDS10752.1	16	.	.	.	.	.	.	.	.	.	.	G	16.24	3.068331	0.55539	.	.	ENSG00000087245	ENST00000219070;ENST00000543485;ENST00000437642	T;T;T	0.53206	0.63;0.63;0.63	5.05	4.08	0.47627	Peptidase M10, metallopeptidase (1);Fibronectin, type II, collagen-binding (5);Kringle-like fold (1);Peptidase, metallopeptidase (1);	0.000000	0.85682	D	0.000000	T	0.65407	0.2688	M	0.77486	2.375	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	T	0.68002	-0.5524	10	0.72032	D	0.01	.	8.9338	0.35686	0.2516:0.0:0.7484:0.0	.	322;372	E9PE45;P08253	.;MMP2_HUMAN	N	372;296;322	ENSP00000219070:K372N;ENSP00000444143:K296N;ENSP00000394237:K322N	ENSP00000219070:K372N	K	+	3	2	MMP2	54081173	0.961000	0.32948	0.956000	0.39512	0.594000	0.36715	1.413000	0.34725	2.504000	0.84457	0.655000	0.94253	AAG	MMP2	-	pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd	ENSG00000087245		0.587	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP2	HGNC	protein_coding	OTTHUMT00000256913.3	35	0.00	0	G			55523672	55523672	+1	no_errors	ENST00000219070	ensembl	human	known	69_37n	missense	25	21.88	7	SNP	0.970	C
MMP24	10893	genome.wustl.edu	37	20	33842446	33842446	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:33842446G>C	ENST00000246186.6	+	4	791	c.706G>C	c.(706-708)Gat>Cat	p.D236H	EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000566203.2_RNA|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000453892.1_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	236					cell-cell adhesion (GO:0098609)|cell-cell adhesion mediated by cadherin (GO:0044331)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|glial cell differentiation (GO:0010001)|neuronal stem cell maintenance (GO:0097150)|positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)		Marimastat(DB00786)	CTCCCCATTTGATGGAGAAGG	0.527																																						dbGAP											0													164.0	172.0	169.0					20																	33842446		2200	4300	6500	-	-	-	SO:0001583	missense	0			AF131284	CCDS46593.1	20q11.2	2008-07-16	2005-08-08		ENSG00000125966	ENSG00000125966			7172	protein-coding gene	gene with protein product	"""membrane-type 5 matrix metalloproteinase"""	604871	"""matrix metalloproteinase 24 (membrane-inserted)"""			10363975	Standard	NM_006690		Approved	MT5-MMP	uc002xbu.2	Q9Y5R2	OTTHUMG00000032330	ENST00000246186.6:c.706G>C	20.37:g.33842446G>C	ENSP00000246186:p.Asp236His	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZBG8|Q9H440	Missense_Mutation	SNP	pirsf_Pept_M10A_matrix_strom,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,prints_Pept_M10A_matrixin	p.D236H	ENST00000246186.6	37	c.706	CCDS46593.1	20	.	.	.	.	.	.	.	.	.	.	G	25.8	4.678009	0.88445	.	.	ENSG00000125966	ENST00000246186;ENST00000540655	T	0.38722	1.12	5.38	5.38	0.77491	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.79358	0.4432	H	0.98370	4.215	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87165	0.2217	10	0.87932	D	0	.	18.3099	0.90195	0.0:0.0:1.0:0.0	.	236	Q9Y5R2	MMP24_HUMAN	H	236;184	ENSP00000246186:D236H	ENSP00000246186:D236H	D	+	1	0	MMP24	33305862	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.657000	0.98554	2.802000	0.96397	0.655000	0.94253	GAT	MMP24	-	pirsf_Pept_M10A_matrix_strom,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,prints_Pept_M10A_matrixin	ENSG00000125966		0.527	MMP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP24	HGNC	protein_coding	OTTHUMT00000078851.4	87	0.00	0	G	NM_006690		33842446	33842446	+1	no_errors	ENST00000246186	ensembl	human	known	69_37n	missense	129	11.64	17	SNP	1.000	C
MMP25	64386	genome.wustl.edu	37	16	3108209	3108209	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:3108209C>T	ENST00000336577.4	+	8	1271	c.1034C>T	c.(1033-1035)tCc>tTc	p.S345F	RP11-473M20.7_ENST00000573878.1_RNA|RP11-473M20.7_ENST00000572222.1_RNA|RP11-473M20.7_ENST00000573130.1_RNA|RP11-473M20.7_ENST00000576250.1_RNA|RP11-473M20.7_ENST00000572427.1_RNA|RP11-473M20.7_ENST00000573953.1_RNA|RP11-473M20.7_ENST00000572574.1_RNA|RP11-473M20.7_ENST00000572930.1_RNA|RP11-473M20.7_ENST00000570949.1_RNA	NM_022468.4	NP_071913.1	Q9H239	MMP28_HUMAN	matrix metallopeptidase 25	353					negative regulation of macrophage chemotaxis (GO:0010760)	cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14					Marimastat(DB00786)	CTCCAGCCCTCCGGACAGCTG	0.706																																					NSCLC(147;665 1067 3888 6863 19894 30469 40247 45633 51336)	dbGAP											0													28.0	33.0	31.0					16																	3108209		2196	4299	6495	-	-	-	SO:0001583	missense	0			AF145442	CCDS10492.1	16p13.3	2008-02-05	2005-08-08			ENSG00000008516			14246	protein-coding gene	gene with protein product		608482	"""matrix metalloproteinase 25"", ""matrix metallopeptidase-like 1"""	MMPL1, MMP20		10628838, 10706098	Standard	NM_022468		Approved	MT6-MMP	uc002cth.3	Q9NPA2		ENST00000336577.4:c.1034C>T	16.37:g.3108209C>T	ENSP00000337816:p.Ser345Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96F04|Q96TE2	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin	p.S345F	ENST00000336577.4	37	c.1034	CCDS10492.1	16	.	.	.	.	.	.	.	.	.	.	c	13.00	2.104989	0.37145	.	.	ENSG00000008516	ENST00000336577	T	0.02472	4.28	4.15	4.15	0.48705	Hemopexin/matrixin (2);	0.186177	0.26275	N	0.025318	T	0.04861	0.0131	L	0.33792	1.035	0.34307	D	0.685042	P	0.36171	0.541	P	0.44897	0.463	T	0.46076	-0.9217	10	0.37606	T	0.19	.	13.9188	0.63919	0.0:1.0:0.0:0.0	.	345	Q9NPA2	MMP25_HUMAN	F	345	ENSP00000337816:S345F	ENSP00000337816:S345F	S	+	2	0	MMP25	3048210	0.100000	0.21855	0.936000	0.37596	0.035000	0.12851	1.364000	0.34171	1.858000	0.53909	0.306000	0.20318	TCC	MMP25	-	pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom	ENSG00000008516		0.706	MMP25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP25	HGNC	protein_coding	OTTHUMT00000437116.1	31	0.00	0	C	NM_022468		3108209	3108209	+1	no_errors	ENST00000336577	ensembl	human	known	69_37n	missense	32	20.00	8	SNP	0.901	T
MMRN1	22915	genome.wustl.edu	37	4	90856008	90856008	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:90856008G>A	ENST00000394980.1	+	7	1496	c.1177G>A	c.(1177-1179)Gaa>Aaa	p.E393K	MMRN1_ENST00000508372.1_Missense_Mutation_p.E135K|MMRN1_ENST00000264790.2_Missense_Mutation_p.E393K|MMRN1_ENST00000394981.1_Intron			Q13201	MMRN1_HUMAN	multimerin 1	393					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		CATAGTAAGAGAACAATTTAA	0.313																																						dbGAP											0													58.0	67.0	64.0					4																	90856008		2179	4282	6461	-	-	-	SO:0001583	missense	0			U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.1177G>A	4.37:g.90856008G>A	ENSP00000378431:p.Glu393Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	pfam_C1q,pfam_EMI_domain,pfam_EGF-like_dom,superfamily_Tumour_necrosis_fac-like,smart_EGF-like,smart_EGF-like_Ca-bd,smart_C1q,pfscan_C1q,pfscan_EG-like_dom,pfscan_EMI_domain,prints_C1q	p.E393K	ENST00000394980.1	37	c.1177	CCDS3635.1	4	.	.	.	.	.	.	.	.	.	.	G	11.33	1.608216	0.28623	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000508372	T;T;T	0.69435	-0.01;-0.01;-0.4	5.2	2.45	0.29901	.	0.231026	0.37095	N	0.002259	T	0.60728	0.2291	M	0.64997	1.995	0.80722	D	1	B	0.18461	0.028	B	0.20577	0.03	T	0.54302	-0.8314	10	0.33141	T	0.24	.	10.7968	0.46466	0.0678:0.2472:0.685:0.0	.	393	Q13201	MMRN1_HUMAN	K	393;393;135	ENSP00000378431:E393K;ENSP00000264790:E393K;ENSP00000426461:E135K	ENSP00000264790:E393K	E	+	1	0	MMRN1	91075031	0.999000	0.42202	0.466000	0.27168	0.672000	0.39443	2.161000	0.42358	0.373000	0.24621	0.585000	0.79938	GAA	MMRN1	-	NULL	ENSG00000138722		0.313	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMRN1	HGNC	protein_coding	OTTHUMT00000253546.2	12	0.00	0	G	NM_007351		90856008	90856008	+1	no_errors	ENST00000264790	ensembl	human	known	69_37n	missense	16	23.81	5	SNP	0.989	A
MMRN2	79812	genome.wustl.edu	37	10	88702195	88702195	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:88702195C>G	ENST00000372027.5	-	6	2667	c.2346G>C	c.(2344-2346)aaG>aaC	p.K782N	MMRN2_ENST00000488950.1_5'Flank	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	782	Arg/Asp/Glu/Lys-rich (highly charged).				angiogenesis (GO:0001525)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						TCTGCTGCTTCTTCCCTTTCC	0.592																																						dbGAP											0													117.0	113.0	114.0					10																	88702195		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK023527	CCDS7379.1	10q23.31	2004-03-10	2004-03-02	2004-03-02	ENSG00000173269	ENSG00000173269		"""EMI domain containing"""	19888	protein-coding gene	gene with protein product		608925	"""elastin microfibril interfacer 3"""	EMILIN3		11559704	Standard	NM_024756		Approved	EndoGlyx-1, FLJ13465	uc001kea.3	Q9H8L6	OTTHUMG00000018663	ENST00000372027.5:c.2346G>C	10.37:g.88702195C>G	ENSP00000361097:p.Lys782Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q504V7|Q6P2N2	Missense_Mutation	SNP	pfam_C1q,pfam_EMI_domain,superfamily_Tumour_necrosis_fac-like,superfamily_tRNA-bd_arm,smart_C1q,prints_C1q,pfscan_C1q,pfscan_EMI_domain	p.K782N	ENST00000372027.5	37	c.2346	CCDS7379.1	10	.	.	.	.	.	.	.	.	.	.	C	17.50	3.404305	0.62288	.	.	ENSG00000173269	ENST00000372027;ENST00000443699	T	0.22336	1.96	5.48	5.48	0.80851	.	0.248420	0.39083	N	0.001470	T	0.41604	0.1166	M	0.74258	2.255	0.31747	N	0.635052	D;D;D	0.89917	1.0;0.999;0.997	D;D;P	0.64144	0.922;0.922;0.879	T	0.52741	-0.8535	10	0.49607	T	0.09	-46.9029	10.4172	0.44329	0.0:0.9106:0.0:0.0894	.	560;721;782	E7EN39;B4E3H8;Q9H8L6	.;.;MMRN2_HUMAN	N	782;560	ENSP00000361097:K782N	ENSP00000361097:K782N	K	-	3	2	MMRN2	88692175	0.080000	0.21391	0.910000	0.35882	0.561000	0.35649	0.973000	0.29422	2.563000	0.86464	0.455000	0.32223	AAG	MMRN2	-	NULL	ENSG00000173269		0.592	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMRN2	HGNC	protein_coding	OTTHUMT00000049179.2	89	0.00	0	C	NM_024756		88702195	88702195	-1	no_errors	ENST00000372027	ensembl	human	known	69_37n	missense	38	36.67	22	SNP	0.879	G
MMS19	64210	genome.wustl.edu	37	10	99219137	99219137	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:99219137G>C	ENST00000438925.2	-	28	3221	c.2886C>G	c.(2884-2886)ctC>ctG	p.L962L	MMS19_ENST00000327277.7_3'UTR|MMS19_ENST00000327238.10_Silent_p.L864L|MMS19_ENST00000355839.6_Silent_p.L919L|MMS19_ENST00000370782.2_Silent_p.L962L	NM_022362.4	NP_071757.4	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog (S. cerevisiae)	962					cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|iron-sulfur cluster assembly (GO:0016226)|nucleotide-excision repair (GO:0006289)|phosphorelay signal transduction system (GO:0000160)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CIA complex (GO:0097361)|cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|membrane (GO:0016020)|MMXD complex (GO:0071817)|nucleus (GO:0005634)|spindle (GO:0005819)	estrogen receptor binding (GO:0030331)|protein binding, bridging (GO:0030674)|receptor signaling complex scaffold activity (GO:0030159)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1)	16		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)		GGCTAGAGCTGAGGTTCAGAA	0.567								Direct reversal of damage																														dbGAP											0													88.0	75.0	79.0					10																	99219137		2202	4297	6499	-	-	-	SO:0001819	synonymous_variant	0			AF007151	CCDS7464.1, CCDS73177.1	10q24-q25	2007-08-15	2007-08-15	2007-08-15	ENSG00000155229	ENSG00000155229			13824	protein-coding gene	gene with protein product	"""MET18 homolog (S. cerevisiae)"""	614777		MMS19L		11071939	Standard	NM_022362		Approved	MET18, hMMS19	uc001kns.4	Q96T76	OTTHUMG00000018857	ENST00000438925.2:c.2886C>G	10.37:g.99219137G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B0QZ75|B3KPE5|B4DQX2|B4E2I3|D3DR55|F8W9Y2|Q17RZ8|Q5T455|Q66K82|Q7L4W8|Q969Z1|Q96DF1|Q96MR1|Q96RK5|Q96SK1|Q9BUE2|Q9BYS9	Nonsense_Mutation	SNP	superfamily_ARM-type_fold	p.S530*	ENST00000438925.2	37	c.1589	CCDS7464.1	10	.	.	.	.	.	.	.	.	.	.	G	5.492	0.275723	0.10403	.	.	ENSG00000155229	ENST00000434538	.	.	.	5.9	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.528	0.75928	0.0:0.3149:0.6851:0.0	.	.	.	.	X	530	.	.	S	-	2	0	MMS19	99209127	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	0.792000	0.26929	2.788000	0.95919	0.655000	0.94253	TCA	MMS19	-	superfamily_ARM-type_fold	ENSG00000155229		0.567	MMS19-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MMS19	HGNC	protein_coding	OTTHUMT00000049706.2	71	0.00	0	G			99219137	99219137	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000434538	ensembl	human	novel	69_37n	nonsense	55	28.57	22	SNP	1.000	C
MNDA	4332	genome.wustl.edu	37	1	158812191	158812191	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:158812191G>C	ENST00000368141.4	+	2	509	c.248G>C	c.(247-249)cGa>cCa	p.R83P	MNDA_ENST00000491210.1_3'UTR	NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	83	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				B cell receptor signaling pathway (GO:0050853)|cellular defense response (GO:0006968)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of B cell proliferation (GO:0030889)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					AACAATCTTCGAAAAGAGAAG	0.408																																						dbGAP											0													91.0	98.0	96.0					1																	158812191		2194	4297	6491	-	-	-	SO:0001583	missense	0			BC032319	CCDS1177.1	1q22	2008-02-05			ENSG00000163563	ENSG00000163563			7183	protein-coding gene	gene with protein product		159553				1644857, 7512843	Standard	NM_002432		Approved	PYHIN3	uc001fsz.1	P41218	OTTHUMG00000022776	ENST00000368141.4:c.248G>C	1.37:g.158812191G>C	ENSP00000357123:p.Arg83Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_HIN200/IF120x,pfam_DAPIN,pfscan_DAPIN,pfscan_HIN200/IF120x	p.R83P	ENST00000368141.4	37	c.248	CCDS1177.1	1	.	.	.	.	.	.	.	.	.	.	G	13.06	2.125490	0.37533	.	.	ENSG00000163563	ENST00000368141	T	0.53423	0.62	3.51	-1.6	0.08426	Pyrin (2);	0.509864	0.14510	N	0.315187	T	0.43523	0.1251	L	0.58101	1.795	0.09310	N	1	D	0.89917	1.0	D	0.76575	0.988	T	0.31558	-0.9939	10	0.87932	D	0	-4.0005	7.3967	0.26939	0.7345:0.0:0.2655:0.0	.	83	P41218	MNDA_HUMAN	P	83	ENSP00000357123:R83P	ENSP00000357123:R83P	R	+	2	0	MNDA	157078815	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-0.401000	0.07232	-0.171000	0.10797	0.557000	0.71058	CGA	MNDA	-	pfam_DAPIN,pfscan_DAPIN	ENSG00000163563		0.408	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MNDA	HGNC	protein_coding	OTTHUMT00000059069.1	51	0.00	0	G	NM_002432		158812191	158812191	+1	no_errors	ENST00000368141	ensembl	human	known	69_37n	missense	55	14.06	9	SNP	0.000	C
MOB1A	55233	genome.wustl.edu	37	2	74386337	74386337	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:74386337G>A	ENST00000396049.4	-	5	647	c.454C>T	c.(454-456)Cta>Tta	p.L152L	MOB1A_ENST00000497054.1_5'UTR	NM_018221.3	NP_060691.2	Q9H8S9	MOB1A_HUMAN	MOB kinase activator 1A	152					hippo signaling (GO:0035329)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)										AGACGCTTTAGAATAGTCTTT	0.398																																						dbGAP											0													100.0	94.0	96.0					2																	74386337		1868	4108	5976	-	-	-	SO:0001819	synonymous_variant	0				CCDS46340.1	2p13.1	2011-09-28	2011-09-28	2011-09-27	ENSG00000114978	ENSG00000114978		"""MOB kinase activators"""	16015	protein-coding gene	gene with protein product		609281	"""chromosome 2 open reading frame 6"", ""MOB1, Mps One Binder kinase activator-like 1B (yeast)"", ""MOB1 Mps One Binder homolog A (yeast)"""	C2orf6, MOBK1B, MOBKL1B		11319234, 20624913	Standard	NM_018221		Approved	FLJ10788, MOB1, FLJ11595, Mob4B, Mats1	uc002skh.4	Q9H8S9	OTTHUMG00000152833	ENST00000396049.4:c.454C>T	2.37:g.74386337G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53S34|Q9H3T5|Q9HAI0|Q9NVE2	Silent	SNP	pfam_Mob1_phocein,superfamily_Mob1_phocein	p.L152	ENST00000396049.4	37	c.454	CCDS46340.1	2																																																																																			MOB1A	-	pfam_Mob1_phocein,superfamily_Mob1_phocein	ENSG00000114978		0.398	MOB1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOB1A	HGNC	protein_coding	OTTHUMT00000328200.2	84	0.00	0	G	NM_018221		74386337	74386337	-1	no_errors	ENST00000396049	ensembl	human	known	69_37n	silent	75	22.68	22	SNP	1.000	A
MORC1	27136	genome.wustl.edu	37	3	108724023	108724023	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:108724023G>A	ENST00000483760.1	-	18	1887	c.1844C>T	c.(1843-1845)tCa>tTa	p.S615L	MORC1_ENST00000232603.5_Missense_Mutation_p.S636L					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTTTGTTTCTGAAATATACTC	0.388																																						dbGAP											0													81.0	84.0	83.0					3																	108724023		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.1844C>T	3.37:g.108724023G>A	ENSP00000417282:p.Ser615Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Znf_CW,superfamily_ATPase-like_ATP-bd,pfscan_Znf_CW	p.S636L	ENST00000483760.1	37	c.1907		3	.	.	.	.	.	.	.	.	.	.	G	10.18	1.278886	0.23307	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.08984	3.34;3.03	4.33	2.49	0.30216	.	0.602401	0.13865	N	0.357387	T	0.04363	0.0120	N	0.12182	0.205	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.002	T	0.42189	-0.9466	10	0.27785	T	0.31	-0.0119	5.9599	0.19293	0.1059:0.2026:0.6916:0.0	.	615;636	E7ERX1;Q86VD1	.;MORC1_HUMAN	L	636;615	ENSP00000232603:S636L;ENSP00000417282:S615L	ENSP00000232603:S636L	S	-	2	0	MORC1	110206713	0.012000	0.17670	0.017000	0.16124	0.017000	0.09413	0.948000	0.29096	0.735000	0.32537	0.557000	0.71058	TCA	MORC1	-	NULL	ENSG00000114487		0.388	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	MORC1	HGNC	protein_coding	OTTHUMT00000353844.1	135	0.00	0	G			108724023	108724023	-1	no_errors	ENST00000232603	ensembl	human	known	69_37n	missense	120	17.24	25	SNP	0.027	A
MORC4	79710	genome.wustl.edu	37	X	106186349	106186349	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:106186349G>C	ENST00000355610.4	-	15	2046	c.1772C>G	c.(1771-1773)tCc>tGc	p.S591C	MORC4_ENST00000535534.1_Missense_Mutation_p.S339C|MORC4_ENST00000255495.7_Missense_Mutation_p.S591C	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	591						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						AGCAGGCATGGAATAATCTAG	0.473																																						dbGAP											0													140.0	138.0	139.0					X																	106186349		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK021627	CCDS14525.2, CCDS48146.1	Xq22.3	2008-02-05	2005-06-15	2005-06-15	ENSG00000133131	ENSG00000133131			23485	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 2"", ""zinc finger, CW type with coiled-coil domain 2"""	ZCWCC2		14607086	Standard	NM_024657		Approved	ZCW4, FLJ11565	uc004emp.4	Q8TE76	OTTHUMG00000022155	ENST00000355610.4:c.1772C>G	X.37:g.106186349G>C	ENSP00000347821:p.Ser591Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A1YR23|A1YR24|H7BXF1|Q5JUK7|Q96MZ2|Q9HAI7	Missense_Mutation	SNP	pfam_Znf_CW,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Prefoldin,pfscan_Znf_CW	p.S591C	ENST00000355610.4	37	c.1772	CCDS14525.2	X	.	.	.	.	.	.	.	.	.	.	G	13.69	2.311727	0.40895	.	.	ENSG00000133131	ENST00000355610;ENST00000535534;ENST00000255495	T;T;T	0.35973	2.53;1.28;2.52	3.78	3.78	0.43462	.	0.000000	0.45361	D	0.000367	T	0.51024	0.1650	L	0.54323	1.7	0.34778	D	0.734469	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.79784	0.993;0.987;0.993	T	0.63274	-0.6674	10	0.62326	D	0.03	-8.0872	10.1203	0.42616	0.0:0.0:1.0:0.0	.	339;591;591	A1YR24;A1YR23;Q8TE76	.;.;MORC4_HUMAN	C	591;339;591	ENSP00000347821:S591C;ENSP00000440359:S339C;ENSP00000255495:S591C	ENSP00000255495:S591C	S	-	2	0	MORC4	106073005	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	4.463000	0.60128	2.143000	0.66587	0.544000	0.68410	TCC	MORC4	-	NULL	ENSG00000133131		0.473	MORC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MORC4	HGNC	protein_coding	OTTHUMT00000057816.3	69	0.00	0	G	NM_024657		106186349	106186349	-1	no_errors	ENST00000355610	ensembl	human	known	69_37n	missense	67	26.37	24	SNP	0.998	C
MORF4L1	10933	genome.wustl.edu	37	15	79183909	79183909	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:79183909G>A	ENST00000331268.5	+	8	754	c.550G>A	c.(550-552)Gaa>Aaa	p.E184K	MORF4L1_ENST00000558502.1_Missense_Mutation_p.E57K|MORF4L1_ENST00000426013.2_Missense_Mutation_p.E145K|MORF4L1_ENST00000558746.1_Missense_Mutation_p.E118K|MORF4L1_ENST00000559345.1_Missense_Mutation_p.E57K|MORF4L1_ENST00000379535.4_Missense_Mutation_p.E170K|MORF4L1_ENST00000561171.1_Intron	NM_206839.2	NP_996670.1	Q9UBU8	MO4L1_HUMAN	mortality factor 4 like 1	184	Interaction with RB1-1.|Sufficient for interaction with SIN3A.				cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|double-strand break repair via homologous recombination (GO:0000724)|histone deacetylation (GO:0016575)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|Sin3 complex (GO:0016580)	chromatin binding (GO:0003682)|protein N-terminus binding (GO:0047485)			breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						TCCTACTGTTGAAAATGTGAG	0.443																																						dbGAP											0													50.0	49.0	49.0					15																	79183909		2196	4293	6489	-	-	-	SO:0001583	missense	0			AF100615	CCDS10307.1, CCDS32304.1, CCDS58393.1	15q25.1	2009-07-13			ENSG00000185787	ENSG00000185787			16989	protein-coding gene	gene with protein product	"""MORF-related gene on chromosome 15"", ""Esa1p-associated factor 3 homolog (S. cerevisiae)"""	607303				8619474, 9110174	Standard	NM_006791		Approved	MRG15, MORFRG15, HsT17725, Eaf3, MEAF3	uc002bel.4	Q9UBU8	OTTHUMG00000143865	ENST00000331268.5:c.550G>A	15.37:g.79183909G>A	ENSP00000331310:p.Glu184Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DKN6|B7Z6R1|D3DW88|O95899|Q5QTS1|Q6NVX8|Q86YT7|Q9HBP6|Q9NSW5	Missense_Mutation	SNP	pfam_MRG,pfam_Tudor-knot,superfamily_Chromodomain-like,pirsf_Hist_Nua4_cplx_EAF3/MRG15_su	p.E184K	ENST00000331268.5	37	c.550	CCDS10307.1	15	.	.	.	.	.	.	.	.	.	.	G	32	5.167906	0.94768	.	.	ENSG00000185787	ENST00000379535;ENST00000426013;ENST00000331268	T;T;T	0.09817	2.94;2.94;2.94	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.34513	0.0900	M	0.86097	2.795	0.80722	D	1	P;P;P	0.52316	0.902;0.94;0.952	P;P;P	0.60117	0.542;0.688;0.869	T	0.12344	-1.0551	10	0.42905	T	0.14	-4.8575	17.0447	0.86499	0.0:0.0:1.0:0.0	.	145;145;184	A5D8W6;Q9UBU8-2;Q9UBU8	.;.;MO4L1_HUMAN	K	170;145;184	ENSP00000368850:E170K;ENSP00000408880:E145K;ENSP00000331310:E184K	ENSP00000331310:E184K	E	+	1	0	MORF4L1	76970964	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.867000	0.92314	2.454000	0.82982	0.561000	0.74099	GAA	MORF4L1	-	pfam_MRG,pirsf_Hist_Nua4_cplx_EAF3/MRG15_su	ENSG00000185787		0.443	MORF4L1-001	KNOWN	basic|CCDS	protein_coding	MORF4L1	HGNC	protein_coding	OTTHUMT00000290131.4	42	0.00	0	G	NM_006791		79183909	79183909	+1	no_errors	ENST00000331268	ensembl	human	known	69_37n	missense	43	25.86	15	SNP	1.000	A
MOV10	4343	genome.wustl.edu	37	1	113236789	113236789	+	Silent	SNP	C	C	G	rs527303422		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:113236789C>G	ENST00000413052.2	+	8	1680	c.1290C>G	c.(1288-1290)tcC>tcG	p.S430S	MOV10_ENST00000357443.2_Silent_p.S430S|MOV10_ENST00000369645.1_Silent_p.S430S|RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000369644.1_Silent_p.S374S	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	430					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)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		TGAGCTTTTCCATGAGGTGGG	0.542																																						dbGAP											0													133.0	135.0	134.0					1																	113236789		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 113"""	610742	"""Mov10 (Moloney leukemia virus 10, mouse) homolog"", ""Mov10, Moloney leukemia virus 10, homolog (mouse)"""			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.1290C>G	1.37:g.113236789C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Silent	SNP	NULL	p.S430	ENST00000413052.2	37	c.1290	CCDS853.1	1																																																																																			MOV10	-	NULL	ENSG00000155363		0.542	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOV10	HGNC	protein_coding	OTTHUMT00000032906.1	97	0.00	0	C	NM_020963		113236789	113236789	+1	no_errors	ENST00000357443	ensembl	human	known	69_37n	silent	81	17.35	17	SNP	0.000	G
MOXD1	26002	genome.wustl.edu	37	6	132645114	132645114	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:132645114C>T	ENST00000367963.3	-	7	1187	c.1069G>A	c.(1069-1071)Gag>Aag	p.E357K	MOXD1_ENST00000336749.3_Missense_Mutation_p.E289K|MOXD1_ENST00000489128.1_5'UTR	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	357						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		GACTGGAACTCAGGCATCCCT	0.493																																						dbGAP											0													121.0	118.0	119.0					6																	132645114		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY007239	CCDS5152.2	6q23.2	2010-09-24			ENSG00000079931	ENSG00000079931			21063	protein-coding gene	gene with protein product		609000				9751809	Standard	XM_006715456		Approved	DKFZP564G202, MOX, dJ248E1.1	uc003qdf.3	Q6UVY6	OTTHUMG00000055853	ENST00000367963.3:c.1069G>A	6.37:g.132645114C>T	ENSP00000356940:p.Glu357Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5THU6|Q8NC97|Q8WV49|Q9H4M6|Q9Y4U3	Missense_Mutation	SNP	pfam_Cu2_ascorb_mOase_N,pfam_DOMON_domain,superfamily_PHM/PNGase_F_dom,smart_DOMON_domain,pfscan_DOMON_domain,prints_Dopamine_b_mOase	p.E357K	ENST00000367963.3	37	c.1069	CCDS5152.2	6	.	.	.	.	.	.	.	.	.	.	C	14.24	2.475370	0.43942	.	.	ENSG00000079931	ENST00000367963;ENST00000336749	T;T	0.76839	-1.05;-1.05	5.75	5.75	0.90469	PHM/PNGase F domain (1);Copper type II, ascorbate-dependent monooxygenase-like, C-terminal (1);	0.183623	0.46442	D	0.000281	T	0.52645	0.1747	L	0.31294	0.92	0.80722	D	1	B;B	0.31548	0.018;0.328	B;B	0.27380	0.068;0.079	T	0.54629	-0.8265	10	0.19147	T	0.46	-12.0374	15.4204	0.75006	0.0:0.8615:0.1385:0.0	.	357;289	Q6UVY6;Q6UVY6-2	MOXD1_HUMAN;.	K	357;289	ENSP00000356940:E357K;ENSP00000336998:E289K	ENSP00000336998:E289K	E	-	1	0	MOXD1	132686807	0.998000	0.40836	0.887000	0.34795	0.630000	0.37929	3.707000	0.54838	2.711000	0.92665	0.563000	0.77884	GAG	MOXD1	-	superfamily_PHM/PNGase_F_dom	ENSG00000079931		0.493	MOXD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MOXD1	HGNC	protein_coding	OTTHUMT00000125837.1	52	0.00	0	C	NM_015529		132645114	132645114	-1	no_errors	ENST00000367963	ensembl	human	known	69_37n	missense	54	30.77	24	SNP	0.983	T
MPC2	25874	genome.wustl.edu	37	1	167905004	167905004	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:167905004C>T	ENST00000367846.4	-	1	274	c.76G>A	c.(76-78)Gag>Aag	p.E26K	DCAF6_ENST00000432587.2_5'Flank|DCAF6_ENST00000367840.3_5'Flank|DCAF6_ENST00000367843.3_5'Flank|MPC2_ENST00000271373.4_Missense_Mutation_p.E26K|DCAF6_ENST00000312263.6_5'Flank	NM_015415.3	NP_056230.1	O95563	MPC2_HUMAN	mitochondrial pyruvate carrier 2	26					cellular metabolic process (GO:0044237)|mitochondrial pyruvate transport (GO:0006850)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate transmembrane transporter activity (GO:0050833)										CTCAATTTCTCGGGCAGCATC	0.592																																						dbGAP											0													44.0	36.0	38.0					1																	167905004		2199	4285	6484	-	-	-	SO:0001583	missense	0				CCDS1266.1	1q24	2012-07-30	2012-07-30	2012-07-30	ENSG00000143158	ENSG00000143158			24515	protein-coding gene	gene with protein product		614737	"""brain protein 44"""	BRP44		3022128, 22628558	Standard	NM_015415		Approved	DKFZP564B167	uc001get.3	O95563	OTTHUMG00000034570	ENST00000367846.4:c.76G>A	1.37:g.167905004C>T	ENSP00000356820:p.Glu26Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K261|Q3SXR6|Q6FIF3	Missense_Mutation	SNP	pfam_UPF0041	p.E26K	ENST00000367846.4	37	c.76	CCDS1266.1	1	.	.	.	.	.	.	.	.	.	.	C	8.642	0.896196	0.17686	.	.	ENSG00000143158	ENST00000367846;ENST00000271373;ENST00000458574	T;T;T	0.63580	-0.05;-0.05;-0.04	5.22	2.2	0.27929	.	0.194158	0.42294	N	0.000721	T	0.15869	0.0382	N	0.04508	-0.205	0.23023	N	0.998417	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.04752	-1.0929	9	0.37606	T	0.19	-4.0644	5.701	0.17883	0.0:0.5607:0.2571:0.1823	.	26;26	B2R4Q7;O95563	.;BR44_HUMAN	K	26	ENSP00000356820:E26K;ENSP00000271373:E26K;ENSP00000392874:E26K	ENSP00000271373:E26K	E	-	1	0	BRP44	166171628	0.861000	0.29849	0.626000	0.29213	0.689000	0.40095	1.364000	0.34171	0.763000	0.33175	-0.142000	0.14014	GAG	MPC2	-	NULL	ENSG00000143158		0.592	MPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPC2	HGNC	protein_coding	OTTHUMT00000083652.1	28	0.00	0	C	NM_015415		167905004	167905004	-1	no_errors	ENST00000271373	ensembl	human	known	69_37n	missense	34	19.05	8	SNP	0.005	T
MPDZ	8777	genome.wustl.edu	37	9	13222433	13222433	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:13222433C>G	ENST00000319217.7	-	6	793	c.546G>C	c.(544-546)ttG>ttC	p.L182F	MPDZ_ENST00000546205.1_Missense_Mutation_p.L182F|MPDZ_ENST00000536827.1_Missense_Mutation_p.L182F|MPDZ_ENST00000381022.2_Missense_Mutation_p.L182F|MPDZ_ENST00000381015.4_Missense_Mutation_p.L182F|MPDZ_ENST00000541718.1_Missense_Mutation_p.L182F|MPDZ_ENST00000447879.1_Missense_Mutation_p.L182F	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	182	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CAGTTTCTTTCAATCTTCCAT	0.393																																						dbGAP											0													171.0	159.0	163.0					9																	13222433		1878	4104	5982	-	-	-	SO:0001583	missense	0			AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.546G>C	9.37:g.13222433C>G	ENSP00000320006:p.Leu182Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ	p.L182F	ENST00000319217.7	37	c.546		9	.	.	.	.	.	.	.	.	.	.	C	17.82	3.483214	0.63962	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75;0.75	6.07	3.1	0.35709	.	0.000000	0.33272	N	0.005092	T	0.70928	0.3280	M	0.93939	3.475	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.71227	-0.4655	10	0.87932	D	0	.	5.3457	0.16008	0.1467:0.6317:0.0:0.2216	.	182;182;182	B7ZMI4;O75970-3;O75970-2	.;.;.	F	182	ENSP00000320006:L182F;ENSP00000439807:L182F;ENSP00000370410:L182F;ENSP00000444151:L182F;ENSP00000415208:L182F;ENSP00000370403:L182F;ENSP00000446358:L182F	ENSP00000320006:L182F	L	-	3	2	MPDZ	13212433	0.965000	0.33210	1.000000	0.80357	0.992000	0.81027	0.138000	0.16016	0.800000	0.34041	0.585000	0.79938	TTG	MPDZ	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000107186		0.393	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	MPDZ	HGNC	protein_coding	OTTHUMT00000055485.2	108	0.00	0	C	NM_003829		13222433	13222433	-1	no_errors	ENST00000319217	ensembl	human	known	69_37n	missense	66	49.23	64	SNP	1.000	G
MPG	4350	genome.wustl.edu	37	16	133185	133185	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:133185C>T	ENST00000219431.4	+	4	681	c.450C>T	c.(448-450)ttC>ttT	p.F150F	NPRL3_ENST00000405960.3_5'Flank|MPG_ENST00000397817.1_Silent_p.F133F	NM_002434.3	NP_002425.2	P29372	3MG_HUMAN	N-methylpurine-DNA glycosylase	150					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA repair (GO:0006281)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)	alkylbase DNA N-glycosylase activity (GO:0003905)|damaged DNA binding (GO:0003684)|DNA-3-methyladenine glycosylase activity (GO:0008725)|DNA-3-methylguanine glycosylase activity (GO:0052822)|DNA-7-methyladenine glycosylase activity (GO:0052821)|DNA-7-methylguanine glycosylase activity (GO:0043916)			endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				GAGGCATGTTCATGAAGCCGG	0.627								Base excision repair (BER), DNA glycosylases																														dbGAP											0													121.0	130.0	127.0					16																	133185		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS32345.1, CCDS32346.1, CCDS42087.1	16p13.3	2008-07-29			ENSG00000103152	ENSG00000103152	3.2.2.21		7211	protein-coding gene	gene with protein product	"""alkyladenine DNA glycosylase"""	156565				1874728	Standard	NM_002434		Approved	MDG	uc002cfo.4	P29372	OTTHUMG00000047887	ENST00000219431.4:c.450C>T	16.37:g.133185C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	G5E9E2|Q13770|Q15275|Q15961|Q5J9I4|Q96BZ6|Q96S33|Q9NNX5	Silent	SNP	pfam_PurDNA_glycsylse,superfamily_Formyl_transferase_C-like,tigrfam_PurDNA_glycsylse	p.F150	ENST00000219431.4	37	c.450	CCDS32346.1	16																																																																																			MPG	-	pfam_PurDNA_glycsylse,superfamily_Formyl_transferase_C-like,tigrfam_PurDNA_glycsylse	ENSG00000103152		0.627	MPG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MPG	HGNC	protein_coding	OTTHUMT00000109121.4	46	0.00	0	C			133185	133185	+1	no_errors	ENST00000219431	ensembl	human	known	69_37n	silent	32	28.89	13	SNP	1.000	T
MPPED2	744	genome.wustl.edu	37	11	30516994	30516994	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:30516994C>T	ENST00000358117.5	-	3	507	c.385G>A	c.(385-387)Gac>Aac	p.D129N	MPPED2_ENST00000448418.2_Missense_Mutation_p.D129N	NM_001584.2	NP_001575.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	129					nervous system development (GO:0007399)		hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						TTAACAAGGTCTGCCATGAAT	0.383																																						dbGAP											0													153.0	141.0	145.0					11																	30516994		2202	4299	6501	-	-	-	SO:0001583	missense	0			U57911	CCDS7870.1, CCDS44560.1	11p13	2008-07-18	2005-10-10	2005-10-10	ENSG00000066382	ENSG00000066382			1180	protein-coding gene	gene with protein product		600911	"""chromosome 11 open reading frame 8"""	C11orf8		8666403, 9266672	Standard	NM_001584		Approved	239FB, D11S302E, Hs.46638, FAM1B, dJ873F21.1, dJ1024C24.1	uc001msr.3	Q15777	OTTHUMG00000166159	ENST00000358117.5:c.385G>A	11.37:g.30516994C>T	ENSP00000350833:p.Asp129Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DQZ5|E9PB10|Q59GE6	Missense_Mutation	SNP	pfam_Metallo_PEstase_dom	p.D129N	ENST00000358117.5	37	c.385	CCDS7870.1	11	.	.	.	.	.	.	.	.	.	.	C	19.93	3.918645	0.73098	.	.	ENSG00000066382	ENST00000448418;ENST00000358117	T;T	0.42131	0.98;0.98	5.61	5.61	0.85477	Metallophosphoesterase domain (1);	0.042277	0.85682	D	0.000000	T	0.37758	0.1015	L	0.28556	0.865	0.80722	D	1	P;B	0.39831	0.69;0.122	B;B	0.41666	0.363;0.044	T	0.05321	-1.0892	10	0.21014	T	0.42	-14.3214	19.6277	0.95684	0.0:1.0:0.0:0.0	.	129;129	Q15777;E9PB10	MPPD2_HUMAN;.	N	129	ENSP00000388258:D129N;ENSP00000350833:D129N	ENSP00000350833:D129N	D	-	1	0	MPPED2	30473570	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.642000	0.89623	0.655000	0.94253	GAC	MPPED2	-	pfam_Metallo_PEstase_dom	ENSG00000066382		0.383	MPPED2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MPPED2	HGNC	protein_coding	OTTHUMT00000388155.2	87	0.00	0	C	NM_001584		30516994	30516994	-1	no_errors	ENST00000358117	ensembl	human	known	69_37n	missense	92	19.13	22	SNP	1.000	T
MR1	3140	genome.wustl.edu	37	1	181019152	181019152	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:181019152C>G	ENST00000367580.5	+	3	339	c.334C>G	c.(334-336)Cac>Gac	p.H112D	MR1_ENST00000438435.2_3'UTR|MR1_ENST00000282990.6_Missense_Mutation_p.H112D|MR1_ENST00000434571.2_Missense_Mutation_p.H112D|MR1_ENST00000367579.3_Intron	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	112	Alpha-2.|Ligand-binding.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	MHC class I receptor activity (GO:0032393)|peptide antigen binding (GO:0042605)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18					Antithymocyte globulin(DB00098)	TCCAGGGTCTCACACTTACCA	0.542																																					Colon(174;1412 1962 45296 46549 47110)	dbGAP											0													90.0	87.0	88.0					1																	181019152		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF010446	CCDS1342.1, CCDS53440.1, CCDS53441.1, CCDS53442.1	1q25.3	2013-01-11	2003-03-05	2003-03-07	ENSG00000153029	ENSG00000153029		"""Immunoglobulin superfamily / C1-set domain containing"""	4975	protein-coding gene	gene with protein product		600764	"""major histocompatibility complex, class I-like sequence"""	HLALS		7624800, 9784382	Standard	NM_001194999		Approved		uc001goq.2	Q95460	OTTHUMG00000035175	ENST00000367580.5:c.334C>G	1.37:g.181019152C>G	ENSP00000356552:p.His112Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2V9|B4E3B1|O97985|O97986|Q53GM1|Q95HB8|Q9MY23|Q9NPL2|Q9TQB3|Q9TQB9|Q9TQK3	Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,prints_MHC_I_a_a1/a2,pfscan_Ig-like	p.H112D	ENST00000367580.5	37	c.334	CCDS1342.1	1	.	.	.	.	.	.	.	.	.	.	C	19.14	3.769865	0.69992	.	.	ENSG00000153029	ENST00000434571;ENST00000367580;ENST00000282990	T;T;T	0.00036	8.86;8.86;8.86	4.38	4.38	0.52667	MHC class I, alpha chain, alpha1/alpha2 (2);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.000000	0.64402	D	0.000003	T	0.00496	0.0016	H	0.98466	4.24	0.58432	D	0.999998	P;P;P;P	0.43578	0.811;0.775;0.626;0.775	B;B;B;B	0.43838	0.433;0.356;0.393;0.356	T	0.44862	-0.9300	10	0.87932	D	0	.	14.8172	0.70045	0.0:1.0:0.0:0.0	.	112;112;112;112	B4E3B1;Q95460-3;Q95460;Q95460-4	.;.;HMR1_HUMAN;.	D	112	ENSP00000388504:H112D;ENSP00000356552:H112D;ENSP00000282990:H112D	ENSP00000282990:H112D	H	+	1	0	MR1	179285775	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	2.588000	0.46137	2.422000	0.82143	0.460000	0.39030	CAC	MR1	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a_a1/a2	ENSG00000153029		0.542	MR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MR1	HGNC	protein_coding	OTTHUMT00000085134.2	72	0.00	0	C	NM_001531		181019152	181019152	+1	no_errors	ENST00000367580	ensembl	human	known	69_37n	missense	134	14.10	22	SNP	1.000	G
MRAS	22808	genome.wustl.edu	37	3	138117362	138117362	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:138117362G>C	ENST00000289104.4	+	4	1046	c.399G>C	c.(397-399)ttG>ttC	p.L133F	MRAS_ENST00000474559.1_Missense_Mutation_p.L133F|MRAS_ENST00000423968.2_Missense_Mutation_p.L133F|MRAS_ENST00000464896.1_Missense_Mutation_p.L57F	NM_001085049.2|NM_001252090.1|NM_001252091.1|NM_012219.4	NP_001078518.1|NP_001239019.1|NP_001239020.1|NP_036351.3	O14807	RASM_HUMAN	muscle RAS oncogene homolog	133					actin cytoskeleton organization (GO:0030036)|multicellular organismal development (GO:0007275)|muscle organ development (GO:0007517)|Ras protein signal transduction (GO:0007265)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)			kidney(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	14						TGATGCACTTGAGGAAGATCA	0.507																																						dbGAP											0													168.0	147.0	154.0					3																	138117362		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF022080	CCDS3100.1, CCDS58855.1	3q22.3	2014-05-09			ENSG00000158186	ENSG00000158186			7227	protein-coding gene	gene with protein product		608435				9400994, 10446149	Standard	NM_012219		Approved	M-RAs, R-RAS3, RRAS3	uc003esi.4	O14807	OTTHUMG00000159888	ENST00000289104.4:c.399G>C	3.37:g.138117362G>C	ENSP00000289104:p.Leu133Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DIK0|Q86WX8	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_ProtSyn_GTP-bd,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.L133F	ENST00000289104.4	37	c.399	CCDS3100.1	3	.	.	.	.	.	.	.	.	.	.	G	12.22	1.871185	0.33069	.	.	ENSG00000158186	ENST00000289104;ENST00000423968;ENST00000494949;ENST00000464896;ENST00000474559	T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06	4.71	1.84	0.25277	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.69433	0.3110	L	0.54965	1.715	0.53005	D	0.999969	B	0.06786	0.001	B	0.09377	0.004	T	0.60875	-0.7176	10	0.49607	T	0.09	.	8.4364	0.32789	0.3078:0.0:0.6922:0.0	.	133	O14807	RASM_HUMAN	F	133;133;57;57;133	ENSP00000289104:L133F;ENSP00000389682:L133F;ENSP00000417685:L57F;ENSP00000419582:L57F;ENSP00000418356:L133F	ENSP00000289104:L133F	L	+	3	2	MRAS	139600052	1.000000	0.71417	0.997000	0.53966	0.961000	0.63080	1.397000	0.34543	0.056000	0.16144	-1.300000	0.01332	TTG	MRAS	-	pfam_Small_GTPase,pfam_ProtSyn_GTP-bd,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000158186		0.507	MRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRAS	HGNC	protein_coding	OTTHUMT00000357990.1	63	0.00	0	G			138117362	138117362	+1	no_errors	ENST00000289104	ensembl	human	known	69_37n	missense	81	11.96	11	SNP	0.995	C
MRC2	9902	genome.wustl.edu	37	17	60769807	60769807	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:60769807G>C	ENST00000303375.5	+	30	4837	c.4435G>C	c.(4435-4437)Gaa>Caa	p.E1479Q	MRC2_ENST00000446119.2_Missense_Mutation_p.E345Q	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	1479					collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						TGAGCAACAAGAATAGAGCCA	0.652																																						dbGAP											0													15.0	18.0	17.0					17																	60769807		2149	4237	6386	-	-	-	SO:0001583	missense	0			AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"""CD molecules"", ""C-type lectin domain containing"""	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.4435G>C	17.37:g.60769807G>C	ENSP00000307513:p.Glu1479Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,prints_AntifreezeII,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin	p.E1479Q	ENST00000303375.5	37	c.4435	CCDS11634.1	17	.	.	.	.	.	.	.	.	.	.	G	29.3	4.998088	0.93227	.	.	ENSG00000011028	ENST00000303375;ENST00000446119	T;T	0.06528	3.29;3.89	5.21	5.21	0.72293	.	0.343849	0.30575	N	0.009333	T	0.09862	0.0242	N	0.22421	0.69	0.53005	D	0.999969	D;P	0.57899	0.981;0.747	P;B	0.49637	0.617;0.283	T	0.08371	-1.0725	10	0.66056	D	0.02	.	18.742	0.91777	0.0:0.0:1.0:0.0	.	345;1479	E7EME3;Q9UBG0	.;MRC2_HUMAN	Q	1479;345	ENSP00000307513:E1479Q;ENSP00000400445:E345Q	ENSP00000307513:E1479Q	E	+	1	0	MRC2	58123539	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	9.281000	0.95811	2.440000	0.82611	0.561000	0.74099	GAA	MRC2	-	NULL	ENSG00000011028		0.652	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRC2	HGNC	protein_coding	OTTHUMT00000445152.1	32	0.00	0	G			60769807	60769807	+1	no_errors	ENST00000303375	ensembl	human	known	69_37n	missense	32	21.95	9	SNP	1.000	C
MRFAP1L1	114932	genome.wustl.edu	37	4	6711285	6711285	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:6711285G>A	ENST00000320848.6	-	1	322	c.72C>T	c.(70-72)ttC>ttT	p.F24F		NM_203462.2	NP_982287.1	Q96HT8	MR1L1_HUMAN	Morf4 family associated protein 1-like 1	24																	GGAACTGCTCGAAATCCTCCT	0.632																																						dbGAP											0													50.0	50.0	50.0					4																	6711285		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF258591	CCDS3392.1	4p16.1	2008-02-05			ENSG00000178988	ENSG00000178988			28796	protein-coding gene	gene with protein product						12477932	Standard	NM_203462		Approved	MGC9651	uc003gjo.3	Q96HT8	OTTHUMG00000125507	ENST00000320848.6:c.72C>T	4.37:g.6711285G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6R0|Q6NXT8|Q9P0J5	Silent	SNP	NULL	p.F24	ENST00000320848.6	37	c.72	CCDS3392.1	4																																																																																			MRFAP1L1	-	NULL	ENSG00000178988		0.632	MRFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRFAP1L1	HGNC	protein_coding	OTTHUMT00000246834.1	47	0.00	0	G	NM_152301		6711285	6711285	-1	no_errors	ENST00000320848	ensembl	human	known	69_37n	silent	29	50.85	30	SNP	0.997	A
MRGPRX4	117196	genome.wustl.edu	37	11	18195312	18195312	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:18195312C>G	ENST00000314254.3	+	1	929	c.509C>G	c.(508-510)tCt>tGt	p.S170C	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	170						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						GGTGCTGATTCTAGTTGGTGT	0.522																																						dbGAP											0													282.0	265.0	270.0					11																	18195312		2199	4293	6492	-	-	-	SO:0001583	missense	0			AY042216	CCDS7831.1	11p15.1	2013-10-10			ENSG00000179817	ENSG00000179817		"""GPCR / Class A : Orphans"""	17617	protein-coding gene	gene with protein product		607230				11551509	Standard	NM_054032		Approved	MRGX4	uc001mnv.1	Q96LA9	OTTHUMG00000166442	ENST00000314254.3:c.509C>G	11.37:g.18195312C>G	ENSP00000314042:p.Ser170Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3KNU3|Q3KNU4|Q502W0|Q8TDD6|Q8TDD7	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	p.S170C	ENST00000314254.3	37	c.509	CCDS7831.1	11	.	.	.	.	.	.	.	.	.	.	C	2.560	-0.302026	0.05495	.	.	ENSG00000179817	ENST00000314254	T	0.38560	1.13	2.44	-0.344	0.12628	GPCR, rhodopsin-like superfamily (1);	3.109510	0.00669	N	0.000624	T	0.45175	0.1329	M	0.76328	2.33	0.09310	N	1	B	0.15930	0.015	B	0.21151	0.033	T	0.19943	-1.0290	10	0.37606	T	0.19	.	6.5888	0.22636	0.4775:0.5225:0.0:0.0	.	170	Q96LA9	MRGX4_HUMAN	C	170	ENSP00000314042:S170C	ENSP00000314042:S170C	S	+	2	0	MRGPRX4	18151888	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.375000	0.00493	-0.208000	0.10171	-0.719000	0.03609	TCT	MRGPRX4	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000179817		0.522	MRGPRX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRGPRX4	HGNC	protein_coding	OTTHUMT00000389788.1	255	0.00	0	C	NM_054032		18195312	18195312	+1	no_errors	ENST00000314254	ensembl	human	known	69_37n	missense	332	17.00	68	SNP	0.000	G
C19orf53	28974	genome.wustl.edu	37	19	13883024	13883024	+	5'Flank	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:13883024G>A	ENST00000588234.1	+	0	0				CTB-5E10.3_ENST00000591826.1_RNA|CTB-5E10.3_ENST00000586894.1_RNA|MRI1_ENST00000319545.8_Missense_Mutation_p.E300K|MRI1_ENST00000040663.6_Missense_Mutation_p.E347K|CTB-5E10.3_ENST00000586297.1_RNA|C19orf53_ENST00000593274.1_5'Flank	NM_014047.2	NP_054766.1	Q9UNZ5	L10K_HUMAN	chromosome 19 open reading frame 53									p.E347*(1)|p.E300*(1)		breast(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	6			OV - Ovarian serous cystadenocarcinoma(19;7.7e-24)|Epithelial(5;2.53e-19)			CTTTGCCCCTGAGGAGCTCCG	0.582																																						dbGAP											2	Substitution - Nonsense(2)	lung(2)											94.0	88.0	90.0					19																	13883024		2203	4300	6503	-	-	-	SO:0001631	upstream_gene_variant	0			AF078852	CCDS12298.1	19p13.2	2011-11-24			ENSG00000104979	ENSG00000104979			24991	protein-coding gene	gene with protein product	"""leydig cell tumor 10 kDa protein homolog"""					11042152	Standard	NM_014047		Approved	HSPC023, LYDG10	uc002mxg.3	Q9UNZ5			19.37:g.13883024G>A	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R4J9	Missense_Mutation	SNP	pfam_IF-2B-related,tigrfam_IF-2BI_MTNA,tigrfam_Initiation_fac_2B_a/b/d	p.E347K	ENST00000588234.1	37	c.1039	CCDS12298.1	19	.	.	.	.	.	.	.	.	.	.	G	7.275	0.607849	0.14002	.	.	ENSG00000037757	ENST00000040663;ENST00000319545	T;T	0.30182	1.54;1.54	4.88	1.05	0.20165	.	0.235842	0.36409	N	0.002620	T	0.20047	0.0482	L	0.41079	1.255	0.22779	N	0.998744	B;B	0.24882	0.113;0.0	B;B	0.20955	0.032;0.002	T	0.21827	-1.0234	10	0.16420	T	0.52	-48.5554	9.3349	0.38045	0.2935:0.0:0.7065:0.0	.	300;347	Q9BV20-2;Q9BV20	.;MTNA_HUMAN	K	347;300	ENSP00000040663:E347K;ENSP00000314871:E300K	ENSP00000040663:E347K	E	+	1	0	MRI1	13744024	0.000000	0.05858	0.252000	0.24328	0.628000	0.37860	-0.092000	0.11129	0.490000	0.27771	0.485000	0.47835	GAG	MRI1	-	NULL	ENSG00000037757		0.582	C19orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRI1	HGNC	protein_coding	OTTHUMT00000453621.1	65	0.00	0	G	NM_014047		13883024	13883024	+1	no_errors	ENST00000040663	ensembl	human	known	69_37n	missense	48	34.25	25	SNP	0.109	A
MRPL14	64928	genome.wustl.edu	37	6	44081802	44081802	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:44081802C>G	ENST00000372014.3	-	3	347	c.216G>C	c.(214-216)caG>caC	p.Q72H		NM_032111.2	NP_115487.2	Q6P1L8	RM14_HUMAN	mitochondrial ribosomal protein L14	72					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0181)			CCAGTAGTATCTGGTCGCCCA	0.572																																						dbGAP											0													199.0	200.0	200.0					6																	44081802		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB051339	CCDS34460.1	6p21.3	2012-09-13			ENSG00000180992	ENSG00000180992		"""Mitochondrial ribosomal proteins / large subunits"""	14279	protein-coding gene	gene with protein product		611827					Standard	XM_005249300		Approved	RPML32, MRP-L32	uc003owp.3	Q6P1L8	OTTHUMG00000014756	ENST00000372014.3:c.216G>C	6.37:g.44081802C>G	ENSP00000361084:p.Gln72His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R575|Q96Q72	Missense_Mutation	SNP	pfam_Ribosomal_L14b/L23e,superfamily_Ribosomal_L14_dom	p.Q72H	ENST00000372014.3	37	c.216	CCDS34460.1	6	.	.	.	.	.	.	.	.	.	.	C	13.55	2.271397	0.40194	.	.	ENSG00000180992	ENST00000372014	.	.	.	5.79	2.95	0.34219	Ribosomal protein L14 domain (2);	0.490245	0.20906	N	0.083551	T	0.14917	0.0360	N	0.14661	0.345	0.32902	D	0.513319	P	0.34815	0.47	B	0.34452	0.183	T	0.03933	-1.0991	9	0.52906	T	0.07	-9.9607	11.3222	0.49428	0.133:0.6105:0.2564:0.0	.	72	Q6P1L8	RM14_HUMAN	H	72	.	ENSP00000361084:Q72H	Q	-	3	2	MRPL14	44189780	0.001000	0.12720	0.078000	0.20375	0.942000	0.58702	-0.039000	0.12124	0.311000	0.23014	0.561000	0.74099	CAG	MRPL14	-	pfam_Ribosomal_L14b/L23e,superfamily_Ribosomal_L14_dom	ENSG00000180992		0.572	MRPL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL14	HGNC	protein_coding	OTTHUMT00000040707.1	73	0.00	0	C	NM_032111		44081802	44081802	-1	no_errors	ENST00000372014	ensembl	human	known	69_37n	missense	59	28.92	24	SNP	0.746	G
MRPL20	55052	genome.wustl.edu	37	1	1337464	1337464	+	Nonstop_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:1337464C>G	ENST00000344843.7	-	4	544	c.449G>C	c.(448-450)tGa>tCa	p.*150S	CCNL2_ENST00000400809.3_5'Flank|CCNL2_ENST00000408918.4_5'Flank|MRPL20_ENST00000493287.1_5'UTR	NM_017971.3	NP_060441.2	Q9BYC9	RM20_HUMAN	mitochondrial ribosomal protein L20	0					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			endometrium(1)|large_intestine(1)|lung(2)|prostate(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;8.75e-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)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CAACAGTCCTCAGTGGTACTG	0.453																																						dbGAP											0													134.0	130.0	131.0					1																	1337464		2203	4296	6499	-	-	-	SO:0001578	stop_lost	0			AB049644	CCDS26.1	1p36.3-p36.2	2012-09-13			ENSG00000242485	ENSG00000242485		"""Mitochondrial ribosomal proteins / large subunits"""	14478	protein-coding gene	gene with protein product		611833					Standard	NM_017971		Approved	FLJ10024	uc001afo.4	Q9BYC9	OTTHUMG00000002916	ENST00000344843.7:c.449G>C	1.37:g.1337464C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RE41|B7Z746	Nonstop_Mutation	SNP	pfam_Ribosomal_L20,prints_Ribosomal_L20,tigrfam_Ribosomal_L20	p.*150S	ENST00000344843.7	37	c.449	CCDS26.1	1	.	.	.	.	.	.	.	.	.	.	C	4.129	0.022125	0.08006	.	.	ENSG00000242485	ENST00000344843	.	.	.	5.22	3.31	0.37934	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.4362	0.21825	0.0:0.6879:0.1503:0.1618	.	.	.	.	S	150	.	.	X	-	2	2	MRPL20	1327327	.	.	0.609000	0.28983	0.013000	0.08279	.	.	0.580000	0.29522	-0.219000	0.12488	TGA	MRPL20	-	NULL	ENSG00000242485		0.453	MRPL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL20	HGNC	protein_coding	OTTHUMT00000008139.1	34	0.00	0	C	NM_017971		1337464	1337464	-1	no_errors	ENST00000344843	ensembl	human	known	69_37n	nonstop	37	24.49	12	SNP	0.948	G
MRPL45	84311	genome.wustl.edu	37	17	36454421	36454421	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:36454421C>G	ENST00000312513.5	+	2	234	c.73C>G	c.(73-75)Ctg>Gtg	p.L25V		NM_032351.4	NP_115727.4	Q9BRJ2	RM45_HUMAN	mitochondrial ribosomal protein L45	25						mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CCAGCCAGTTCTGGTGACTCA	0.368																																						dbGAP											0													18.0	20.0	19.0					17																	36454421		1722	3486	5208	-	-	-	SO:0001583	missense	0			BC006235	CCDS11326.1, CCDS74047.1	17q21.2	2014-05-06			ENSG00000174100	ENSG00000278845		"""Mitochondrial ribosomal proteins / large subunits"""	16651	protein-coding gene	gene with protein product		611850				11551941, 12706105	Standard	XM_006725366		Approved	MGC11321	uc002hpy.3	Q9BRJ2	OTTHUMG00000188489	ENST00000312513.5:c.73C>G	17.37:g.36454421C>G	ENSP00000308901:p.Leu25Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L436|Q6ZMJ5	Missense_Mutation	SNP	pfam_Tim44-related/Ribosome_L45,smart_Tim44-related/Ribosome_L45	p.L25V	ENST00000312513.5	37	c.73	CCDS11326.1	17	.	.	.	.	.	.	.	.	.	.	C	8.580	0.882127	0.17467	.	.	ENSG00000174100	ENST00000312513	T	0.30448	1.53	4.4	3.43	0.39272	.	0.363864	0.25270	N	0.031897	T	0.26882	0.0658	L	0.48362	1.52	0.09310	N	1	P	0.47106	0.89	B	0.42625	0.393	T	0.08269	-1.0730	10	0.38643	T	0.18	-11.1135	9.47	0.38835	0.0:0.8995:0.0:0.1005	.	25	Q9BRJ2	RM45_HUMAN	V	25	ENSP00000308901:L25V	ENSP00000308901:L25V	L	+	1	2	MRPL45	33707940	0.171000	0.23029	0.690000	0.30148	0.149000	0.21700	0.167000	0.16602	1.072000	0.40860	0.511000	0.50034	CTG	MRPL45	-	NULL	ENSG00000174100		0.368	MRPL45-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	MRPL45	HGNC	protein_coding	OTTHUMT00000256792.3	59	0.00	0	C	NM_032351		36454421	36454421	+1	no_errors	ENST00000312513	ensembl	human	known	69_37n	missense	32	31.91	15	SNP	0.153	G
MRPS10	55173	genome.wustl.edu	37	6	42181870	42181870	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:42181870C>G	ENST00000053468.3	-	3	189	c.174G>C	c.(172-174)ttG>ttC	p.L58F		NM_018141.3	NP_060611.2	P82664	RT10_HUMAN	mitochondrial ribosomal protein S10	58						mitochondrion (GO:0005739)|ribosome (GO:0005840)				endometrium(1)|lung(1)	2	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00528)			CAGGTTTGGTCAAATCCTTTG	0.383																																						dbGAP											0													88.0	81.0	83.0					6																	42181870		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4866.1	6p21.1	2012-09-13			ENSG00000048544	ENSG00000048544		"""Mitochondrial ribosomal proteins / small subunits"""	14502	protein-coding gene	gene with protein product		611976				11279123	Standard	NM_018141		Approved	FLJ10567	uc003osa.4	P82664	OTTHUMG00000014694	ENST00000053468.3:c.174G>C	6.37:g.42181870C>G	ENSP00000053468:p.Leu58Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RE89|Q9H3E5|Q9NVR3	Missense_Mutation	SNP	pfam_Ribosomal_S10,superfamily_Ribosomal_S10	p.L58F	ENST00000053468.3	37	c.174	CCDS4866.1	6	.	.	.	.	.	.	.	.	.	.	C	2.282	-0.364482	0.05103	.	.	ENSG00000048544	ENST00000053468	.	.	.	5.35	4.48	0.54585	.	1.177540	0.05897	N	0.629265	T	0.15262	0.0368	N	0.24115	0.695	0.09310	N	1	B	0.28128	0.201	B	0.21360	0.034	T	0.31447	-0.9943	9	0.56958	D	0.05	0.4582	11.2229	0.48866	0.0:0.9135:0.0:0.0865	.	58	P82664	RT10_HUMAN	F	58	.	ENSP00000053468:L58F	L	-	3	2	MRPS10	42289848	0.059000	0.20769	0.221000	0.23827	0.090000	0.18270	1.721000	0.38032	1.261000	0.44149	0.555000	0.69702	TTG	MRPS10	-	NULL	ENSG00000048544		0.383	MRPS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS10	HGNC	protein_coding	OTTHUMT00000040547.1	81	0.00	0	C			42181870	42181870	-1	no_errors	ENST00000053468	ensembl	human	known	69_37n	missense	66	24.14	21	SNP	0.125	G
MRPS14	63931	genome.wustl.edu	37	1	174987702	174987702	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:174987702G>A	ENST00000476371.1	-	2	72	c.56C>T	c.(55-57)tCa>tTa	p.S19L		NM_022100.2	NP_071383.1			mitochondrial ribosomal protein S14											large_intestine(2)|lung(5)|pancreas(1)|prostate(2)	10						TGAAGCTGATGAAGGAACCAT	0.463																																						dbGAP											0													103.0	90.0	95.0					1																	174987702		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB051350	CCDS1316.1	1q25.1	2012-09-13			ENSG00000120333	ENSG00000120333		"""Mitochondrial ribosomal proteins / small subunits"""	14049	protein-coding gene	gene with protein product		611978					Standard	NR_037606		Approved	HSMRPS14	uc001gkk.3	O60783	OTTHUMG00000034878	ENST00000476371.1:c.56C>T	1.37:g.174987702G>A	ENSP00000420714:p.Ser19Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ribosomal_S14	p.S19L	ENST00000476371.1	37	c.56	CCDS1316.1	1	.	.	.	.	.	.	.	.	.	.	G	8.526	0.869841	0.17322	.	.	ENSG00000120333	ENST00000476371	.	.	.	5.67	-0.36	0.12568	.	0.813596	0.11734	N	0.534651	T	0.24236	0.0587	N	0.20483	0.58	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25950	-1.0117	9	0.15066	T	0.55	0.5912	10.3794	0.44101	0.4722:0.0:0.5278:0.0	.	19	O60783	RT14_HUMAN	L	19	.	ENSP00000420714:S19L	S	-	2	0	MRPS14	173254325	0.157000	0.22836	0.889000	0.34880	0.578000	0.36192	0.605000	0.24179	0.026000	0.15269	-0.136000	0.14681	TCA	MRPS14	-	NULL	ENSG00000120333		0.463	MRPS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS14	HGNC	protein_coding	OTTHUMT00000084416.2	74	0.00	0	G	NM_022100		174987702	174987702	-1	no_errors	ENST00000476371	ensembl	human	known	69_37n	missense	106	19.70	26	SNP	0.108	A
MRPS2	51116	genome.wustl.edu	37	9	138395685	138395685	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:138395685C>G	ENST00000371785.1	+	5	806	c.597C>G	c.(595-597)ctC>ctG	p.L199L	RP11-426A6.5_ENST00000415062.1_RNA|MRPS2_ENST00000488610.1_3'UTR|MRPS2_ENST00000241600.5_Silent_p.L199L|C9orf116_ENST00000371791.1_5'Flank			Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2	199					translation (GO:0006412)	mitochondrion (GO:0005739)|small ribosomal subunit (GO:0015935)	structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		TGCACACGCTCAACAACATCT	0.612																																						dbGAP											0													90.0	84.0	86.0					9																	138395685		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB051627	CCDS6990.1	9q34	2012-09-13			ENSG00000122140	ENSG00000122140		"""Mitochondrial ribosomal proteins / small subunits"""	14495	protein-coding gene	gene with protein product		611971					Standard	NM_016034		Approved	CGI-91	uc004cfv.5	Q9Y399	OTTHUMG00000020910	ENST00000371785.1:c.597C>G	9.37:g.138395685C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T899|Q9BSQ4	Silent	SNP	pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom,prints_Ribosomal_S2	p.L199	ENST00000371785.1	37	c.597	CCDS6990.1	9																																																																																			MRPS2	-	pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom	ENSG00000122140		0.612	MRPS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MRPS2	HGNC	protein_coding	OTTHUMT00000054998.1	24	0.00	0	C			138395685	138395685	+1	no_errors	ENST00000241600	ensembl	human	known	69_37n	silent	43	17.31	9	SNP	0.998	G
MRPS34	65993	genome.wustl.edu	37	16	1822500	1822500	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:1822500C>T	ENST00000397375.2	-	3	414	c.379G>A	c.(379-381)Gag>Aag	p.E127K	NME3_ENST00000563498.1_5'Flank|NME3_ENST00000219302.3_5'Flank|EME2_ENST00000307394.7_5'Flank|EME2_ENST00000568449.1_5'Flank|MRPS34_ENST00000177742.3_Missense_Mutation_p.E134K	NM_023936.1	NP_076425.1	P82930	RT34_HUMAN	mitochondrial ribosomal protein S34	127						mitochondrion (GO:0005739)|ribosome (GO:0005840)				breast(1)|skin(2)	3						TCCCGCGCCTCGCTCTCAGTC	0.647																																						dbGAP											0													72.0	77.0	75.0					16																	1822500		2198	4300	6498	-	-	-	SO:0001583	missense	0			BC001182	CCDS10444.1, CCDS73805.1	16p13.3	2012-09-13			ENSG00000074071	ENSG00000074071		"""Mitochondrial ribosomal proteins / small subunits"""	16618	protein-coding gene	gene with protein product		611994					Standard	NM_023936		Approved	MRP-S12, MGC2616	uc002cmo.3	P82930	OTTHUMG00000128636	ENST00000397375.2:c.379G>A	16.37:g.1822500C>T	ENSP00000380531:p.Glu127Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BVI7	Missense_Mutation	SNP	NULL	p.E127K	ENST00000397375.2	37	c.379	CCDS10444.1	16	.	.	.	.	.	.	.	.	.	.	C	11.69	1.713823	0.30413	.	.	ENSG00000074071	ENST00000397375;ENST00000177742	T;T	0.55588	0.51;0.51	4.02	1.89	0.25635	.	0.234663	0.42420	D	0.000712	T	0.32285	0.0824	L	0.28458	0.855	0.51767	D	0.999939	B;B	0.21520	0.057;0.023	B;B	0.12837	0.008;0.007	T	0.07139	-1.0788	10	0.09084	T	0.74	-1.7028	8.5187	0.33262	0.0:0.7228:0.1711:0.1061	.	134;127	C9JJ19;P82930	.;RT34_HUMAN	K	127;134	ENSP00000380531:E127K;ENSP00000177742:E134K	ENSP00000177742:E134K	E	-	1	0	MRPS34	1762501	0.025000	0.19082	0.344000	0.25628	0.243000	0.25628	0.315000	0.19451	0.873000	0.35799	0.561000	0.74099	GAG	MRPS34	-	NULL	ENSG00000074071		0.647	MRPS34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS34	HGNC	protein_coding	OTTHUMT00000250506.1	38	0.00	0	C	NM_023936		1822500	1822500	-1	no_errors	ENST00000397375	ensembl	human	known	69_37n	missense	68	20.00	17	SNP	0.385	T
MS4A14	84689	genome.wustl.edu	37	11	60183888	60183888	+	Missense_Mutation	SNP	T	T	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:60183888T>A	ENST00000300187.6	+	5	1724	c.1447T>A	c.(1447-1449)Tca>Aca	p.S483T	MS4A14_ENST00000395005.2_Missense_Mutation_p.S466T|MS4A14_ENST00000531783.1_Missense_Mutation_p.S516T|MS4A14_ENST00000531787.1_Missense_Mutation_p.S371T	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	483	Gln-rich.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						AAGAAAATCCTCAAGACGGCA	0.398																																						dbGAP											0													78.0	81.0	80.0					11																	60183888		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"""membrane-spanning 4-domains, subfamily A, member 16"""	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.1447T>A	11.37:g.60183888T>A	ENSP00000300187:p.Ser483Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	pfam_CD20-like	p.S483T	ENST00000300187.6	37	c.1447	CCDS31569.1	11	.	.	.	.	.	.	.	.	.	.	T	14.02	2.411544	0.42817	.	.	ENSG00000166928	ENST00000531787;ENST00000300187;ENST00000395005;ENST00000531783	T;T;T;T	0.29655	1.56;2.8;1.57;3.14	4.13	-8.27	0.01017	.	4.314310	0.00855	N	0.001874	T	0.18882	0.0453	L	0.27053	0.805	0.09310	N	1	B;B	0.24576	0.106;0.064	B;B	0.25140	0.058;0.026	T	0.09618	-1.0666	10	0.33940	T	0.23	-0.1373	6.5781	0.22577	0.3455:0.4884:0.0:0.166	.	466;483	Q96JA4-2;Q96JA4	.;M4A14_HUMAN	T	371;483;466;516	ENSP00000437222:S371T;ENSP00000300187:S483T;ENSP00000378453:S466T;ENSP00000433761:S516T	ENSP00000300187:S483T	S	+	1	0	MS4A14	59940464	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.184000	0.03076	-2.198000	0.00749	0.528000	0.53228	TCA	MS4A14	-	NULL	ENSG00000166928		0.398	MS4A14-002	KNOWN	basic|CCDS	protein_coding	MS4A14	HGNC	protein_coding	OTTHUMT00000395383.2	53	0.00	0	T			60183888	60183888	+1	no_errors	ENST00000300187	ensembl	human	known	69_37n	missense	54	16.92	11	SNP	0.000	A
MS4A14	84689	genome.wustl.edu	37	11	60183892	60183892	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:60183892G>C	ENST00000300187.6	+	5	1728	c.1451G>C	c.(1450-1452)aGa>aCa	p.R484T	MS4A14_ENST00000395005.2_Missense_Mutation_p.R467T|MS4A14_ENST00000531783.1_Missense_Mutation_p.R517T|MS4A14_ENST00000531787.1_Missense_Mutation_p.R372T	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	484	Gln-rich.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						AAATCCTCAAGACGGCATTCC	0.393																																						dbGAP											0													80.0	82.0	82.0					11																	60183892		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"""membrane-spanning 4-domains, subfamily A, member 16"""	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.1451G>C	11.37:g.60183892G>C	ENSP00000300187:p.Arg484Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	pfam_CD20-like	p.R484T	ENST00000300187.6	37	c.1451	CCDS31569.1	11	.	.	.	.	.	.	.	.	.	.	G	11.78	1.739237	0.30774	.	.	ENSG00000166928	ENST00000531787;ENST00000300187;ENST00000395005;ENST00000531783	T;T;T;T	0.38240	1.15;2.33;1.15;2.71	4.13	-2.37	0.06643	.	2.940030	0.01067	N	0.004746	T	0.36082	0.0954	L	0.52573	1.65	0.09310	N	1	P;P	0.46784	0.884;0.816	P;B	0.45538	0.484;0.291	T	0.32295	-0.9912	10	0.46703	T	0.11	-1.0233	4.8826	0.13686	0.525:0.1609:0.3141:0.0	.	467;484	Q96JA4-2;Q96JA4	.;M4A14_HUMAN	T	372;484;467;517	ENSP00000437222:R372T;ENSP00000300187:R484T;ENSP00000378453:R467T;ENSP00000433761:R517T	ENSP00000300187:R484T	R	+	2	0	MS4A14	59940468	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.282000	0.18829	-0.539000	0.06273	-0.781000	0.03364	AGA	MS4A14	-	NULL	ENSG00000166928		0.393	MS4A14-002	KNOWN	basic|CCDS	protein_coding	MS4A14	HGNC	protein_coding	OTTHUMT00000395383.2	57	0.00	0	G			60183892	60183892	+1	no_errors	ENST00000300187	ensembl	human	known	69_37n	missense	54	16.92	11	SNP	0.000	C
MS4A10	341116	genome.wustl.edu	37	11	60565946	60565946	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:60565946G>C	ENST00000308287.1	+	7	777	c.681G>C	c.(679-681)caG>caC	p.Q227H		NM_206893.3	NP_996776.2	Q96PG2	M4A10_HUMAN	membrane-spanning 4-domains, subfamily A, member 10	227						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2)	21						CATCCTACCAGAGTGTGATTC	0.567																																						dbGAP											0													104.0	99.0	100.0					11																	60565946		2203	4299	6502	-	-	-	SO:0001583	missense	0			AK122633	CCDS7992.1	11q12.2	2008-02-05				ENSG00000172689			13368	protein-coding gene	gene with protein product		608403				11486273, 11401424	Standard	NM_206893		Approved	CD20L7, MS4A9	uc001npz.1	Q96PG2		ENST00000308287.1:c.681G>C	11.37:g.60565946G>C	ENSP00000311862:p.Gln227His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP45|Q96PG3	Missense_Mutation	SNP	pfam_CD20-like	p.Q227H	ENST00000308287.1	37	c.681	CCDS7992.1	11	.	.	.	.	.	.	.	.	.	.	G	9.565	1.119492	0.20877	.	.	ENSG00000172689	ENST00000308287	T	0.23552	1.9	2.88	1.94	0.25998	.	1.256170	0.06149	N	0.673800	T	0.14485	0.0350	N	0.14661	0.345	0.09310	N	1	P	0.36438	0.553	B	0.32465	0.146	T	0.23476	-1.0187	10	0.66056	D	0.02	-3.1775	4.9882	0.14200	0.175:0.0:0.825:0.0	.	227	Q96PG2	M4A10_HUMAN	H	227	ENSP00000311862:Q227H	ENSP00000311862:Q227H	Q	+	3	2	MS4A10	60322522	0.000000	0.05858	0.004000	0.12327	0.018000	0.09664	0.053000	0.14184	0.757000	0.33036	0.467000	0.42956	CAG	MS4A10	-	NULL	ENSG00000172689		0.567	MS4A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MS4A10	HGNC	protein_coding	OTTHUMT00000395619.1	90	0.00	0	G	NM_206893		60565946	60565946	+1	no_errors	ENST00000308287	ensembl	human	known	69_37n	missense	92	18.58	21	SNP	0.004	C
MSANTD2	79684	genome.wustl.edu	37	11	124637467	124637467	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:124637467C>T	ENST00000374979.3	-	4	1293	c.1285G>A	c.(1285-1287)Gaa>Aaa	p.E429K	RP11-677M14.3_ENST00000504932.2_RNA|RP11-677M14.3_ENST00000532579.1_RNA|MSANTD2_ENST00000524950.1_3'UTR|MSANTD2_ENST00000526629.1_Missense_Mutation_p.E199K|MSANTD2_ENST00000239614.4_Missense_Mutation_p.E377K			Q6P1R3	MSD2_HUMAN	Myb/SANT-like DNA-binding domain containing 2	429																	TCAATACATTCTTCATAGCCA	0.507																																						dbGAP											0													84.0	92.0	89.0					11																	124637467		2201	4299	6500	-	-	-	SO:0001583	missense	0			AK026995	CCDS8454.1, CCDS73408.1	11q24.2	2012-03-02	2012-03-02	2012-03-02	ENSG00000120458	ENSG00000120458			26266	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 61"""	C11orf61			Standard	NM_024631		Approved	FLJ23342	uc001qaz.1	Q6P1R3	OTTHUMG00000165931	ENST00000374979.3:c.1285G>A	11.37:g.124637467C>T	ENSP00000364118:p.Glu429Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KRY6|Q9H042|Q9H5K8	Missense_Mutation	SNP	NULL	p.E429K	ENST00000374979.3	37	c.1285		11	.	.	.	.	.	.	.	.	.	.	C	17.92	3.505834	0.64410	.	.	ENSG00000120458	ENST00000239614;ENST00000374979;ENST00000526629	.	.	.	6.08	6.08	0.98989	.	0.110778	0.64402	D	0.000010	T	0.47838	0.1467	L	0.27053	0.805	0.80722	D	1	P;B	0.43094	0.799;0.341	B;B	0.35931	0.214;0.082	T	0.53767	-0.8392	9	0.72032	D	0.01	-13.7643	20.6721	0.99693	0.0:1.0:0.0:0.0	.	429;377	Q6P1R3;Q6P1R3-3	CK061_HUMAN;.	K	377;429;199	.	ENSP00000239614:E377K	E	-	1	0	C11orf61	124142677	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.585000	0.67497	2.894000	0.99253	0.591000	0.81541	GAA	MSANTD2	-	NULL	ENSG00000120458		0.507	MSANTD2-002	KNOWN	basic|appris_principal|exp_conf	protein_coding	MSANTD2	HGNC	protein_coding	OTTHUMT00000387084.1	47	0.00	0	C	NM_024631		124637467	124637467	-1	no_errors	ENST00000374979	ensembl	human	known	69_37n	missense	26	57.38	35	SNP	1.000	T
MSGN1	343930	genome.wustl.edu	37	2	17998319	17998319	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:17998319C>T	ENST00000281047.3	+	1	557	c.534C>T	c.(532-534)ctC>ctT	p.L178L		NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN	mesogenin 1	178	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell differentiation (GO:0030154)|segment specification (GO:0007379)|somitogenesis (GO:0001756)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TCGGGGAACTCACAGACCTCC	0.587																																					Melanoma(127;325 1712 14802 40657 49130)	dbGAP											0													41.0	45.0	43.0					2																	17998319		2055	4190	6245	-	-	-	SO:0001819	synonymous_variant	0				CCDS42657.1	2p24.2	2007-07-23			ENSG00000151379	ENSG00000151379			14907	protein-coding gene	gene with protein product	"""paraxial mesogenin"""	612209				10837126	Standard	NM_001105569		Approved	pMesogenin1	uc010yjt.2	A6NI15	OTTHUMG00000159089	ENST00000281047.3:c.534C>T	2.37:g.17998319C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.L178	ENST00000281047.3	37	c.534	CCDS42657.1	2																																																																																			MSGN1	-	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	ENSG00000151379		0.587	MSGN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	MSGN1	HGNC	protein_coding	OTTHUMT00000353253.1	20	0.00	0	C	XM_292850		17998319	17998319	+1	no_errors	ENST00000281047	ensembl	human	known	69_37n	silent	8	57.89	11	SNP	1.000	T
MSGN1	343930	genome.wustl.edu	37	2	17998342	17998342	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:17998342G>C	ENST00000281047.3	+	1	580	c.557G>C	c.(556-558)aGa>aCa	p.R186T		NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN	mesogenin 1	186					cell differentiation (GO:0030154)|segment specification (GO:0007379)|somitogenesis (GO:0001756)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AACCGCGGCAGAGAGCCCAGA	0.562																																					Melanoma(127;325 1712 14802 40657 49130)	dbGAP											0													32.0	34.0	34.0					2																	17998342		2015	4180	6195	-	-	-	SO:0001583	missense	0				CCDS42657.1	2p24.2	2007-07-23			ENSG00000151379	ENSG00000151379			14907	protein-coding gene	gene with protein product	"""paraxial mesogenin"""	612209				10837126	Standard	NM_001105569		Approved	pMesogenin1	uc010yjt.2	A6NI15	OTTHUMG00000159089	ENST00000281047.3:c.557G>C	2.37:g.17998342G>C	ENSP00000281047:p.Arg186Thr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.R186T	ENST00000281047.3	37	c.557	CCDS42657.1	2	.	.	.	.	.	.	.	.	.	.	G	15.83	2.949969	0.53186	.	.	ENSG00000151379	ENST00000281047	T	0.69561	-0.41	5.61	3.76	0.43208	.	0.139886	0.33553	N	0.004799	T	0.43634	0.1256	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.33777	-0.9855	10	0.41790	T	0.15	-0.8416	9.6402	0.39835	0.0747:0.1427:0.7826:0.0	.	186	A6NI15	MSGN1_HUMAN	T	186	ENSP00000281047:R186T	ENSP00000281047:R186T	R	+	2	0	MSGN1	17861823	0.840000	0.29493	0.178000	0.23040	0.954000	0.61252	1.394000	0.34509	1.483000	0.48342	0.655000	0.94253	AGA	MSGN1	-	NULL	ENSG00000151379		0.562	MSGN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	MSGN1	HGNC	protein_coding	OTTHUMT00000353253.1	19	0.00	0	G	XM_292850		17998342	17998342	+1	no_errors	ENST00000281047	ensembl	human	known	69_37n	missense	14	30.00	6	SNP	0.098	C
MSH2	4436	genome.wustl.edu	37	2	47707949	47707949	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:47707949G>C	ENST00000233146.2	+	15	2796	c.2573G>C	c.(2572-2574)gGa>gCa	p.G858A	MSH2_ENST00000461394.1_3'UTR|MSH2_ENST00000543555.1_Missense_Mutation_p.G792A|MSH2_ENST00000406134.1_Missense_Mutation_p.G858A	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2	858					ATP catabolic process (GO:0006200)|B cell differentiation (GO:0030183)|B cell mediated immunity (GO:0019724)|cell cycle arrest (GO:0007050)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|intra-S DNA damage checkpoint (GO:0031573)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|isotype switching (GO:0045190)|maintenance of DNA repeat elements (GO:0043570)|male gonad development (GO:0008584)|meiotic gene conversion (GO:0006311)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reciprocal meiotic recombination (GO:0045128)|oxidative phosphorylation (GO:0006119)|positive regulation of helicase activity (GO:0051096)|postreplication repair (GO:0006301)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSalpha complex (GO:0032301)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|guanine/thymine mispair binding (GO:0032137)|heteroduplex DNA loop binding (GO:0000404)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|Y-form DNA binding (GO:0000403)	p.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CAGTATATTGGAGAATCGCAA	0.393			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													dbGAP	yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p22-p21	4436	mutS homolog 2 (E. coli)		E	4	Whole gene deletion(2)|Unknown(2)	haematopoietic_and_lymphoid_tissue(3)|prostate(1)											133.0	127.0	129.0					2																	47707949		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U03911	CCDS1834.1, CCDS58709.1	2p21	2014-09-17	2013-09-12		ENSG00000095002	ENSG00000095002			7325	protein-coding gene	gene with protein product		609309	"""mutS (E. coli) homolog 2 (colon cancer, nonpolyposis type 1)"", ""mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)"""	COCA1		8484120, 9843200	Standard	NM_000251		Approved	HNPCC, HNPCC1	uc002rvy.2	P43246	OTTHUMG00000128861	ENST00000233146.2:c.2573G>C	2.37:g.47707949G>C	ENSP00000233146:p.Gly858Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E2Z2|O75488	Missense_Mutation	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_connt,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_connt,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_MSH2	p.G858A	ENST00000233146.2	37	c.2573	CCDS1834.1	2	.	.	.	.	.	.	.	.	.	.	G	10.31	1.313776	0.23908	.	.	ENSG00000095002	ENST00000233146;ENST00000543555;ENST00000406134;ENST00000413880	D;D;D	0.91521	-2.86;-2.71;-2.77	6.04	6.04	0.98038	.	0.324721	0.33040	N	0.005343	D	0.88066	0.6337	L	0.50333	1.59	0.53005	D	0.999965	B;B;B	0.25850	0.016;0.136;0.007	B;B;B	0.19391	0.015;0.025;0.007	D	0.83450	0.0048	10	0.13853	T	0.58	-22.0503	20.5948	0.99439	0.0:0.0:1.0:0.0	.	792;858;858	B4E2Z2;E9PHA6;P43246	.;.;MSH2_HUMAN	A	858;792;858;644	ENSP00000233146:G858A;ENSP00000442697:G792A;ENSP00000384199:G858A	ENSP00000233146:G858A	G	+	2	0	MSH2	47561453	1.000000	0.71417	0.938000	0.37757	0.264000	0.26372	6.251000	0.72441	2.873000	0.98535	0.563000	0.77884	GGA	MSH2	-	pirsf_DNA_mismatch_repair_MSH2	ENSG00000095002		0.393	MSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSH2	HGNC	protein_coding	OTTHUMT00000250805.3	103	0.00	0	G			47707949	47707949	+1	no_errors	ENST00000233146	ensembl	human	known	69_37n	missense	92	20.00	23	SNP	0.996	C
MSH3	4437	genome.wustl.edu	37	5	79952348	79952348	+	Missense_Mutation	SNP	C	C	G	rs144607594	byFrequency	TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:79952348C>G	ENST00000265081.6	+	2	436	c.356C>G	c.(355-357)tCt>tGt	p.S119C	DHFR_ENST00000504396.1_5'Flank|DHFR_ENST00000511032.1_5'Flank|DHFR_ENST00000505337.1_5'Flank|DHFR_ENST00000439211.2_5'Flank|DHFR_ENST00000513048.1_5'Flank	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	119	Interaction with EXO1.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		TCTGGCAACTCTGGTGAGTTG	0.423								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)	dbGAP											0													102.0	108.0	106.0					5																	79952348		2203	4300	6503	-	-	-	SO:0001583	missense	0			U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.356C>G	5.37:g.79952348C>G	ENSP00000265081:p.Ser119Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Missense_Mutation	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_connt,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mismatch_repair_MutS_connt,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C	p.S119C	ENST00000265081.6	37	c.356	CCDS34195.1	5	.	.	.	.	.	.	.	.	.	.	C	13.79	2.340933	0.41498	.	.	ENSG00000113318	ENST00000265081;ENST00000535995	D	0.86627	-2.15	4.83	0.799	0.18667	.	2.654490	0.01171	N	0.006876	T	0.80407	0.4617	L	0.36672	1.1	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.60959	-0.7159	9	.	.	.	5.5216	3.7985	0.08749	0.0:0.5085:0.1831:0.3084	.	119	P20585	MSH3_HUMAN	C	119;110	ENSP00000265081:S119C	.	S	+	2	0	MSH3	79988104	0.002000	0.14202	0.081000	0.20488	0.663000	0.39108	-0.153000	0.10144	0.562000	0.29204	0.563000	0.77884	TCT	MSH3	-	NULL	ENSG00000113318		0.423	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	MSH3	HGNC	protein_coding	OTTHUMT00000369471.1	117	0.00	0	C	NM_002439		79952348	79952348	+1	no_errors	ENST00000265081	ensembl	human	known	69_37n	missense	89	22.61	26	SNP	0.026	G
MSH3	4437	genome.wustl.edu	37	5	80088623	80088623	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:80088623G>A	ENST00000265081.6	+	19	2695	c.2615G>A	c.(2614-2616)gGa>gAa	p.G872E		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	872					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		GTGTTGCTGGGAGAACAGGAT	0.323								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)	dbGAP											0													98.0	100.0	99.0					5																	80088623		2203	4298	6501	-	-	-	SO:0001583	missense	0			U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.2615G>A	5.37:g.80088623G>A	ENSP00000265081:p.Gly872Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Missense_Mutation	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_connt,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mismatch_repair_MutS_connt,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C	p.G872E	ENST00000265081.6	37	c.2615	CCDS34195.1	5	.	.	.	.	.	.	.	.	.	.	G	15.79	2.935914	0.52972	.	.	ENSG00000113318	ENST00000265081;ENST00000535995	D	0.87412	-2.25	5.41	4.53	0.55603	DNA mismatch repair protein MutS, C-terminal (1);	0.281902	0.40469	N	0.001085	D	0.84129	0.5404	N	0.12569	0.235	0.37299	D	0.908608	D	0.71674	0.998	D	0.69307	0.963	T	0.83162	-0.0098	9	.	.	.	-15.5712	8.8854	0.35400	0.166:0.0:0.834:0.0	.	872	P20585	MSH3_HUMAN	E	872;863	ENSP00000265081:G872E	.	G	+	2	0	MSH3	80124379	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.649000	0.67936	2.520000	0.84964	0.650000	0.86243	GGA	MSH3	-	pfam_DNA_mismatch_repair_MutS_C	ENSG00000113318		0.323	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	MSH3	HGNC	protein_coding	OTTHUMT00000369471.1	139	0.00	0	G	NM_002439		80088623	80088623	+1	no_errors	ENST00000265081	ensembl	human	known	69_37n	missense	77	20.62	20	SNP	1.000	A
MSH4	4438	genome.wustl.edu	37	1	76280772	76280772	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:76280772C>A	ENST00000263187.3	+	5	870	c.766C>A	c.(766-768)Cag>Aag	p.Q256K		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	256					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						GTACATTGAACAGTTATGCAT	0.299								Mismatch excision repair (MMR)																														dbGAP											0													83.0	88.0	86.0					1																	76280772		2203	4299	6502	-	-	-	SO:0001583	missense	0			U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"""mutS (E. coli) homolog 4"", ""mutS homolog 4 (E. coli)"""			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.766C>A	1.37:g.76280772C>A	ENSP00000263187:p.Gln256Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T4U6|Q8NEB3|Q9UNP8	Missense_Mutation	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_connt,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_connt,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C	p.Q256K	ENST00000263187.3	37	c.766	CCDS670.1	1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432609	0.62844	.	.	ENSG00000057468	ENST00000263187	D	0.88354	-2.37	5.23	5.23	0.72850	DNA mismatch repair protein MutS, connector (2);	0.195485	0.47093	D	0.000256	D	0.86669	0.5988	L	0.58669	1.825	0.52501	D	0.999951	B	0.28178	0.202	B	0.36989	0.238	D	0.85007	0.0903	10	0.46703	T	0.11	-8.1654	19.1847	0.93639	0.0:1.0:0.0:0.0	.	256	O15457	MSH4_HUMAN	K	256	ENSP00000263187:Q256K	ENSP00000263187:Q256K	Q	+	1	0	MSH4	76053360	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.995000	0.76257	2.631000	0.89168	0.655000	0.94253	CAG	MSH4	-	pfam_DNA_mismatch_repair_MutS_connt,superfamily_DNA_mismatch_repair_MutS_connt	ENSG00000057468		0.299	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSH4	HGNC	protein_coding	OTTHUMT00000026983.1	124	0.00	0	C	NM_002440		76280772	76280772	+1	no_errors	ENST00000263187	ensembl	human	known	69_37n	missense	56	20.00	14	SNP	1.000	A
MSH6	2956	genome.wustl.edu	37	2	48026509	48026509	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:48026509G>T	ENST00000234420.5	+	4	1539	c.1387G>T	c.(1387-1389)Gaa>Taa	p.E463*	FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000538136.1_Nonsense_Mutation_p.E161*|MSH6_ENST00000540021.1_Nonsense_Mutation_p.E333*	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	463					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGGCTTTCCTGAAATTGCATT	0.478			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													dbGAP	yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	mutS homolog 6 (E. coli)		E	2	Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)											75.0	71.0	72.0					2																	48026509		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.1387G>T	2.37:g.48026509G>T	ENSP00000234420:p.Glu463*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Nonsense_Mutation	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_core,pfam_PWWP,pfam_DNA_mismatch_repair_MutS_clamp,pfam_DNA_mismatch_repair_MutS_connt,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mismatch_repair_MutS_connt,smart_PWWP,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_Msh6,pfscan_PWWP	p.E463*	ENST00000234420.5	37	c.1387	CCDS1836.1	2	.	.	.	.	.	.	.	.	.	.	G	42	9.641454	0.99227	.	.	ENSG00000116062	ENST00000234420;ENST00000544857;ENST00000540021;ENST00000538136	.	.	.	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-16.8618	18.6193	0.91316	0.0:0.0:1.0:0.0	.	.	.	.	X	463;461;333;161	.	ENSP00000234420:E463X	E	+	1	0	MSH6	47880013	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.835000	0.99442	2.408000	0.81797	0.650000	0.86243	GAA	MSH6	-	pfam_DNA_mismatch_repair_MutS-lik_N,superfamily_DNA_mismatch_repair_MutS_N,pirsf_DNA_mismatch_repair_Msh6	ENSG00000116062		0.478	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSH6	HGNC	protein_coding	OTTHUMT00000251180.4	109	0.00	0	G	NM_000179		48026509	48026509	+1	no_errors	ENST00000234420	ensembl	human	known	69_37n	nonsense	93	20.51	24	SNP	1.000	T
MSH6	2956	genome.wustl.edu	37	2	48026911	48026911	+	Missense_Mutation	SNP	G	G	C	rs587780670		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:48026911G>C	ENST00000234420.5	+	4	1941	c.1789G>C	c.(1789-1791)Gaa>Caa	p.E597Q	FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000538136.1_Missense_Mutation_p.E295Q|MSH6_ENST00000540021.1_Missense_Mutation_p.E467Q	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	597					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGTTTTATTTGAAAAAGGAAA	0.408			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													dbGAP	yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	mutS homolog 6 (E. coli)		E	2	Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)											82.0	84.0	84.0					2																	48026911		2198	4298	6496	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.1789G>C	2.37:g.48026911G>C	ENSP00000234420:p.Glu597Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Missense_Mutation	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_core,pfam_PWWP,pfam_DNA_mismatch_repair_MutS_clamp,pfam_DNA_mismatch_repair_MutS_connt,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mismatch_repair_MutS_connt,smart_PWWP,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_Msh6,pfscan_PWWP	p.E597Q	ENST00000234420.5	37	c.1789	CCDS1836.1	2	.	.	.	.	.	.	.	.	.	.	G	19.49	3.837191	0.71373	.	.	ENSG00000116062	ENST00000234420;ENST00000544857;ENST00000540021;ENST00000538136	D;D;D	0.87809	-2.3;-2.3;-2.3	5.25	5.25	0.73442	DNA mismatch repair protein MutS, connector (1);	0.000000	0.85682	D	0.000000	D	0.95268	0.8465	M	0.93283	3.4	0.80722	D	1	D;D;D	0.76494	0.995;0.995;0.999	D;D;D	0.70016	0.967;0.967;0.955	D	0.96161	0.9115	10	0.66056	D	0.02	-7.8646	18.8489	0.92218	0.0:0.0:1.0:0.0	.	467;597;597	B4DF41;P52701;P52701-2	.;MSH6_HUMAN;.	Q	597;595;467;295	ENSP00000234420:E597Q;ENSP00000446475:E467Q;ENSP00000438580:E295Q	ENSP00000234420:E597Q	E	+	1	0	MSH6	47880415	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	9.794000	0.99096	2.468000	0.83385	0.585000	0.79938	GAA	MSH6	-	pfam_DNA_mismatch_repair_MutS_connt,superfamily_DNA_mismatch_repair_MutS_connt,pirsf_DNA_mismatch_repair_Msh6	ENSG00000116062		0.408	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSH6	HGNC	protein_coding	OTTHUMT00000251180.4	68	0.00	0	G	NM_000179		48026911	48026911	+1	no_errors	ENST00000234420	ensembl	human	known	69_37n	missense	61	12.86	9	SNP	1.000	C
MSH6	2956	genome.wustl.edu	37	2	48033789	48033789	+	Splice_Site	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:48033789C>T	ENST00000234420.5	+	9	4152	c.4000C>T	c.(4000-4002)Cgg>Tgg	p.R1334W	FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000538136.1_Splice_Site_p.R1032W|MSH6_ENST00000540021.1_Splice_Site_p.R1204W	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	1334					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ACGATTATTTCGGTAACTAAC	0.338			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													dbGAP	yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	mutS homolog 6 (E. coli)		E	2	Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)											38.0	39.0	38.0					2																	48033789		2203	4299	6502	-	-	-	SO:0001630	splice_region_variant	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.4001+1C>T	2.37:g.48033789C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Missense_Mutation	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_core,pfam_PWWP,pfam_DNA_mismatch_repair_MutS_clamp,pfam_DNA_mismatch_repair_MutS_connt,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mismatch_repair_MutS_connt,smart_PWWP,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_Msh6,pfscan_PWWP	p.R1334W	ENST00000234420.5	37	c.4000	CCDS1836.1	2	.	.	.	.	.	.	.	.	.	.	C	14.52	2.559636	0.45590	.	.	ENSG00000116062	ENST00000234420;ENST00000543270;ENST00000540021;ENST00000538136	D;D;D	0.88664	-2.04;-2.14;-2.41	6.03	4.19	0.49359	.	0.098103	0.64402	D	0.000002	D	0.89143	0.6631	L	0.29908	0.895	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.67548	0.937;0.952	D	0.89240	0.3583	10	0.72032	D	0.01	-13.4026	9.3809	0.38313	0.3516:0.5809:0.0:0.0674	.	1204;1334	B4DF41;P52701	.;MSH6_HUMAN	W	1334;298;1204;1032	ENSP00000234420:R1334W;ENSP00000446475:R1204W;ENSP00000438580:R1032W	ENSP00000234420:R1334W	R	+	1	2	MSH6	47887293	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.800000	0.47900	1.514000	0.48869	0.655000	0.94253	CGG	MSH6	-	pirsf_DNA_mismatch_repair_Msh6	ENSG00000116062		0.338	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSH6	HGNC	protein_coding	OTTHUMT00000251180.4	33	0.00	0	C	NM_000179	Missense_Mutation	48033789	48033789	+1	no_errors	ENST00000234420	ensembl	human	known	69_37n	missense	50	21.88	14	SNP	1.000	T
MSL2	55167	genome.wustl.edu	37	3	135870120	135870120	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:135870120C>T	ENST00000309993.2	-	2	2335	c.1603G>A	c.(1603-1605)Gct>Act	p.A535T	MSL2_ENST00000434835.2_Missense_Mutation_p.A461T	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	535					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						TTACGCACAGCAATGCTAGTC	0.488																																						dbGAP											0													104.0	96.0	99.0					3																	135870120		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001408	CCDS33861.1, CCDS46922.1	3q22.2	2008-10-29	2008-10-29	2008-10-29	ENSG00000174579	ENSG00000174579		"""RING-type (C3HC4) zinc fingers"""	25544	protein-coding gene	gene with protein product	"""male-specific lethal-2 homolog (Drosophila)"""	614802	"""ring finger protein 184"", ""male-specific lethal 2-like 1 (Drosophila)"""	RNF184, MSL2L1		16227571, 16543150	Standard	NM_018133		Approved	FLJ10546, KIAA1585, msl-2	uc003eqx.1	Q9HCI7	OTTHUMG00000159793	ENST00000309993.2:c.1603G>A	3.37:g.135870120C>T	ENSP00000311827:p.Ala535Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DYL4|G5E9I1|Q0D2P1|Q8NDB4|Q9NVS4	Missense_Mutation	SNP	pfscan_Znf_RING	p.A535T	ENST00000309993.2	37	c.1603	CCDS33861.1	3	.	.	.	.	.	.	.	.	.	.	C	16.86	3.239529	0.58995	.	.	ENSG00000174579	ENST00000309993;ENST00000434835	.	.	.	5.58	5.58	0.84498	.	0.107785	0.64402	D	0.000008	T	0.71745	0.3376	M	0.63428	1.95	0.47308	D	0.999383	D	0.54964	0.969	P	0.52481	0.7	T	0.74731	-0.3566	9	0.72032	D	0.01	-7.9598	18.5585	0.91093	0.0:1.0:0.0:0.0	.	535	Q9HCI7	MSL2_HUMAN	T	535;461	.	ENSP00000311827:A535T	A	-	1	0	MSL2	137352810	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	3.643000	0.54374	2.633000	0.89246	0.467000	0.42956	GCT	MSL2	-	NULL	ENSG00000174579		0.488	MSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSL2	HGNC	protein_coding	OTTHUMT00000357347.1	84	0.00	0	C	NM_018133		135870120	135870120	-1	no_errors	ENST00000309993	ensembl	human	known	69_37n	missense	68	25.27	23	SNP	1.000	T
MSL3	10943	genome.wustl.edu	37	X	11786799	11786799	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:11786799G>A	ENST00000312196.4	+	10	1384	c.1279G>A	c.(1279-1281)Gag>Aag	p.E427K	MSL3_ENST00000380693.3_Missense_Mutation_p.E261K|MSL3_ENST00000361672.2_Missense_Mutation_p.E278K|MSL3_ENST00000398527.2_Missense_Mutation_p.E415K|MSL3_ENST00000467141.1_3'UTR	NM_078629.3	NP_523353.2	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)	427	MRG. {ECO:0000255|PROSITE- ProRule:PRU00972}.|Required for the histone acetyltransferase activity of the MSL complex.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|multicellular organismal development (GO:0007275)|transcription from RNA polymerase II promoter (GO:0006366)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						TGAAATAAACGAGGTAAAGAA	0.398																																						dbGAP											0													108.0	96.0	100.0					X																	11786799		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF117065	CCDS14147.1, CCDS14148.1, CCDS14149.1, CCDS55369.1, CCDS65213.1	Xp22.3	2008-10-29	2008-10-29	2008-10-29	ENSG00000005302	ENSG00000005302			7370	protein-coding gene	gene with protein product		300609	"""male-specific lethal-3 (Drosophila)-like 1"", ""male-specific lethal 3-like 1 (Drosophila)"""	MSL3L1		10395802, 10908644	Standard	NM_078628		Approved		uc004cuw.3	Q8N5Y2	OTTHUMG00000021132	ENST00000312196.4:c.1279G>A	X.37:g.11786799G>A	ENSP00000312244:p.Glu427Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NCU2|A6NHW8|A8K165|B4DUV8|B7Z227|Q9UG70|Q9Y5Z8	Missense_Mutation	SNP	pfam_MRG,pfam_Tudor-knot,superfamily_Chromodomain-like,smart_Chromo_domain/shadow	p.E427K	ENST00000312196.4	37	c.1279	CCDS14147.1	X	.	.	.	.	.	.	.	.	.	.	G	28.7	4.941797	0.92526	.	.	ENSG00000005302	ENST00000312196;ENST00000361672;ENST00000398527;ENST00000380693	T;T;T;T	0.10960	3.18;2.82;3.0;2.83	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.35393	0.0930	M	0.79805	2.47	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;D;D;D	0.81914	0.995;0.989;0.988;0.995	T	0.09487	-1.0672	10	0.27785	T	0.31	.	17.7275	0.88369	0.0:0.0:1.0:0.0	.	415;278;368;427	B4DUV8;B7Z227;Q8N5Y2-2;Q8N5Y2	.;.;.;MS3L1_HUMAN	K	427;278;415;261	ENSP00000312244:E427K;ENSP00000354562:E278K;ENSP00000381538:E415K;ENSP00000370069:E261K	ENSP00000312244:E427K	E	+	1	0	MSL3	11696720	1.000000	0.71417	0.993000	0.49108	0.728000	0.41692	8.299000	0.89946	2.218000	0.71995	0.600000	0.82982	GAG	MSL3	-	pfam_MRG	ENSG00000005302		0.398	MSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	MSL3	HGNC	protein_coding	OTTHUMT00000055757.1	119	0.00	0	G	NM_006800		11786799	11786799	+1	no_errors	ENST00000312196	ensembl	human	known	69_37n	missense	105	17.97	23	SNP	1.000	A
MSL3	10943	genome.wustl.edu	37	X	11790741	11790741	+	Splice_Site	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:11790741G>A	ENST00000312196.4	+	12	1488	c.1383G>A	c.(1381-1383)gtG>gtA	p.V461V	MSL3_ENST00000380693.3_Splice_Site_p.V295V|MSL3_ENST00000361672.2_Splice_Site_p.V312V|MSL3_ENST00000398527.2_Splice_Site_p.V449V	NM_078629.3	NP_523353.2	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)	461	MRG. {ECO:0000255|PROSITE- ProRule:PRU00972}.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|multicellular organismal development (GO:0007275)|transcription from RNA polymerase II promoter (GO:0006366)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V461V(1)		breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						TTAATGCAGTGAAACTTCCAG	0.368																																						dbGAP											1	Substitution - coding silent(1)	cervix(1)											76.0	68.0	71.0					X																	11790741		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF117065	CCDS14147.1, CCDS14148.1, CCDS14149.1, CCDS55369.1, CCDS65213.1	Xp22.3	2008-10-29	2008-10-29	2008-10-29	ENSG00000005302	ENSG00000005302			7370	protein-coding gene	gene with protein product		300609	"""male-specific lethal-3 (Drosophila)-like 1"", ""male-specific lethal 3-like 1 (Drosophila)"""	MSL3L1		10395802, 10908644	Standard	NM_078628		Approved		uc004cuw.3	Q8N5Y2	OTTHUMG00000021132	ENST00000312196.4:c.1382-1G>A	X.37:g.11790741G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NCU2|A6NHW8|A8K165|B4DUV8|B7Z227|Q9UG70|Q9Y5Z8	Silent	SNP	pfam_MRG,pfam_Tudor-knot,superfamily_Chromodomain-like,smart_Chromo_domain/shadow	p.V461	ENST00000312196.4	37	c.1383	CCDS14147.1	X																																																																																			MSL3	-	pfam_MRG	ENSG00000005302		0.368	MSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	MSL3	HGNC	protein_coding	OTTHUMT00000055757.1	152	0.00	0	G	NM_006800	Silent	11790741	11790741	+1	no_errors	ENST00000312196	ensembl	human	known	69_37n	silent	118	19.18	28	SNP	0.987	A
MSN	4478	genome.wustl.edu	37	X	64958994	64958994	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:64958994C>T	ENST00000360270.5	+	12	1679	c.1507C>T	c.(1507-1509)Cgc>Tgc	p.R503C		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	503					cellular component movement (GO:0006928)|establishment of endothelial barrier (GO:0061028)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|regulation of lymphocyte migration (GO:2000401)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|uropod (GO:0001931)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|structural constituent of cytoskeleton (GO:0005200)		MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						GGCCAAGGACCGCAGTGAGGA	0.547			T	ALK	ALCL																																	dbGAP		Dom	yes		X	Xq11.2-q12	4478	moesin		L	0													93.0	59.0	70.0					X																	64958994		2203	4300	6503	-	-	-	SO:0001583	missense	0			M69066	CCDS14382.1	Xq11.1	2010-10-20			ENSG00000147065	ENSG00000147065			7373	protein-coding gene	gene with protein product		309845				1924289, 7628534	Standard	XM_005262269		Approved		uc004dwf.3	P26038	OTTHUMG00000021723	ENST00000360270.5:c.1507C>T	X.37:g.64958994C>T	ENSP00000353408:p.Arg503Cys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pirsf_ERM,pfam_ERM_C,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin,smart_Band_41_domain,prints_Ez/rad/moesin,prints_Band_41_fam,pfscan_FERM_domain	p.R503C	ENST00000360270.5	37	c.1507	CCDS14382.1	X	.	.	.	.	.	.	.	.	.	.	c	23.1	4.370464	0.82573	.	.	ENSG00000147065	ENST00000360270	D	0.89415	-2.51	5.36	5.36	0.76844	Moesin (1);Ezrin/radixin/moesin, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95023	0.8389	M	0.89287	3.02	0.80722	D	1	D	0.76494	0.999	D	0.67725	0.953	D	0.95736	0.8779	10	0.66056	D	0.02	.	16.6317	0.85035	0.0:1.0:0.0:0.0	.	503	P26038	MOES_HUMAN	C	503	ENSP00000353408:R503C	ENSP00000353408:R503C	R	+	1	0	MSN	64875719	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.868000	0.69605	2.242000	0.73789	0.519000	0.50382	CGC	MSN	-	pirsf_ERM,pfam_ERM_C,superfamily_Moesin	ENSG00000147065		0.547	MSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSN	HGNC	protein_coding	OTTHUMT00000056981.1	68	0.00	0	C	NM_002444		64958994	64958994	+1	no_errors	ENST00000360270	ensembl	human	known	69_37n	missense	25	50.98	26	SNP	1.000	T
MST1L	11223	genome.wustl.edu	37	1	17084015	17084015	+	RNA	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:17084015C>G	ENST00000455405.2	-	0	697							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)										CCACCAACCTCACAGGCCCCC	0.587																																						dbGAP											0																																										-	-	-			0			U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17084015C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B7WPB1|Q13209	Missense_Mutation	SNP	pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6	p.E636Q	ENST00000455405.2	37	c.1906		1	.	.	.	.	.	.	.	.	.	.	.	12.69	2.012891	0.35511	.	.	ENSG00000186715	ENST00000334998;ENST00000442552	.	.	.	.	.	.	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.42682	D	0.000667	T	0.60274	0.2256	.	.	.	.	.	.	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.63844	-0.6545	6	0.22109	T	0.4	.	6.7402	0.23431	0.0:0.9998:0.0:2.0E-4	.	636;662	Q2TV78-2;Q2TV78	.;MSTP9_HUMAN	Q	636;662	.	ENSP00000439273:E636Q	E	-	1	0	MST1P9	16956602	1.000000	0.71417	0.788000	0.31933	0.000000	0.00434	4.380000	0.59581	0.502000	0.28037	0.000000	0.15137	GAG	MST1P9	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000186715		0.587	MST1L-002	KNOWN	basic	processed_transcript	MST1P9	HGNC	pseudogene	OTTHUMT00000400328.1	51	0.00	0	C	NM_001271733		17084015	17084015	-1	no_errors	ENST00000334998	ensembl	human	known	69_37n	missense	59	11.94	8	SNP	1.000	G
MSTN	2660	genome.wustl.edu	37	2	190927171	190927171	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:190927171G>C	ENST00000260950.4	-	1	284	c.152C>G	c.(151-153)tCa>tGa	p.S51*	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	51					cellular response to dexamethasone stimulus (GO:0071549)|muscle organ development (GO:0007517)|negative regulation of muscle hypertrophy (GO:0014741)|negative regulation of skeletal muscle tissue growth (GO:0048632)|ovulation cycle process (GO:0022602)|positive regulation of transcription, DNA-templated (GO:0045893)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gravity (GO:0009629)|response to heat (GO:0009408)|response to muscle activity (GO:0014850)|response to testosterone (GO:0033574)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue regeneration (GO:0043403)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			TTCTATTCTTGAAGATTTAGT	0.383																																						dbGAP											0													183.0	179.0	180.0					2																	190927171		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF019627	CCDS2303.1	2q32.1	2014-09-17	2007-06-21	2007-06-21	ENSG00000138379	ENSG00000138379			4223	protein-coding gene	gene with protein product		601788	"""growth differentiation factor 8"""	GDF8		9288100, 10610713, 17003236	Standard	NM_005259		Approved		uc002urp.3	O14793	OTTHUMG00000132663	ENST00000260950.4:c.152C>G	2.37:g.190927171G>C	ENSP00000260950:p.Ser51*	Somatic		WXS	Illumina GAIIx	Phase_IV	A1C2J7|A1C2K0|Q6B0H2	Nonsense_Mutation	SNP	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C	p.S51*	ENST00000260950.4	37	c.152	CCDS2303.1	2	.	.	.	.	.	.	.	.	.	.	G	35	5.448763	0.96205	.	.	ENSG00000138379	ENST00000260950	.	.	.	5.51	5.51	0.81932	.	0.226761	0.45606	D	0.000343	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-9.7956	19.61	0.95602	0.0:0.0:1.0:0.0	.	.	.	.	X	51	.	ENSP00000260950:S51X	S	-	2	0	MSTN	190635416	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.899000	0.69846	2.868000	0.98415	0.557000	0.71058	TCA	MSTN	-	pfam_TGF-b_N	ENSG00000138379		0.383	MSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSTN	HGNC	protein_coding	OTTHUMT00000255917.2	213	0.00	0	G	NM_005259		190927171	190927171	-1	no_errors	ENST00000260950	ensembl	human	known	69_37n	nonsense	178	14.93	33	SNP	1.000	C
MSTO1	55154	genome.wustl.edu	37	1	155582000	155582000	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:155582000G>A	ENST00000245564.2	+	8	730	c.706G>A	c.(706-708)Gat>Aat	p.D236N	RP11-29H23.4_ENST00000456382.2_RNA|MSTO1_ENST00000368341.4_Missense_Mutation_p.D201N|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000483734.1_3'UTR|MSTO1_ENST00000452804.2_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	236					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)					TGACCTGCACGATGGCTTCTC	0.562																																						dbGAP											0													39.0	44.0	42.0					1																	155582000		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.706G>A	1.37:g.155582000G>A	ENSP00000245564:p.Asp236Asn	Somatic		WXS	Illumina GAIIx	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.D236N	ENST00000245564.2	37	c.706	CCDS1114.1	1	.	.	.	.	.	.	.	.	.	.	.	10.43	1.349026	0.24426	.	.	ENSG00000125459	ENST00000245564;ENST00000368341	T;T	0.68903	-0.36;-0.36	3.17	2.06	0.26882	Tubulin/FtsZ, GTPase domain (3);	0.240475	0.40554	N	0.001068	T	0.31009	0.0783	L	0.37630	1.12	0.80722	D	1	B;B;B;B;B;B;B;B	0.31655	0.052;0.016;0.334;0.198;0.061;0.028;0.22;0.22	B;B;B;B;B;B;B;B	0.25884	0.064;0.021;0.036;0.06;0.017;0.038;0.036;0.036	T	0.09640	-1.0665	10	0.34782	T	0.22	.	6.3831	0.21546	0.3888:0.0:0.6112:0.0	.	181;236;201;236;58;236;236;236	B4DLS9;A8K3J5;Q9BUK6-7;D3DVA3;Q9BUK6-5;Q9BUK6;Q9BUK6-2;Q9BUK6-3	.;.;.;.;.;MSTO1_HUMAN;.;.	N	236;201	ENSP00000245564:D236N;ENSP00000357325:D201N	ENSP00000245564:D236N	D	+	1	0	MSTO1	153848624	0.816000	0.29132	0.972000	0.41901	0.911000	0.54048	1.170000	0.31883	0.451000	0.26802	0.313000	0.20887	GAT	MSTO1	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase	ENSG00000125459		0.562	MSTO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSTO1	HGNC	protein_coding	OTTHUMT00000039408.1	103	0.00	0	G	NM_018116		155582000	155582000	+1	no_errors	ENST00000245564	ensembl	human	known	69_37n	missense	103	10.43	12	SNP	0.987	A
MTCP1	4515	genome.wustl.edu	37	X	154294234	154294234	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:154294234C>T	ENST00000369476.3	-	2	631	c.52G>A	c.(52-54)Gag>Aag	p.E18K	MTCP1_ENST00000362018.2_Missense_Mutation_p.E18K|MTCP1_ENST00000482244.1_Intron|CMC4_ENST00000369484.3_Intron|CMC4_ENST00000369479.1_5'Flank	NM_001018025.3	NP_001018025.1	P56278	MTCP1_HUMAN	mature T-cell proliferation 1	18					cell proliferation (GO:0008283)	mitochondrion (GO:0005739)				large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	5	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TAGATACCCTCTTGGTGAACC	0.507			T	TRA@	T cell prolymphocytic leukemia																																	dbGAP		Dom	yes		X	Xq28	4515	mature T-cell proliferation 1		L	0													66.0	66.0	66.0					X																	154294234		1921	4112	6033	-	-	-	SO:0001583	missense	0				CCDS44027.1	Xq28	2011-10-10			ENSG00000214827	ENSG00000214827			7423	protein-coding gene	gene with protein product		300116				8361760, 8634440, 9691281	Standard	NM_001018025		Approved	P13MTCP1, p8MTCP1	uc004fmz.2	P56278	OTTHUMG00000156241	ENST00000369476.3:c.52G>A	X.37:g.154294234C>T	ENSP00000358488:p.Glu18Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5HYP2	Missense_Mutation	SNP	pfam_TCL1_MTCP1,superfamily_TCL1_MTCP1	p.E18K	ENST00000369476.3	37	c.52	CCDS44027.1	X	.	.	.	.	.	.	.	.	.	.	C	5.838	0.338766	0.11069	.	.	ENSG00000214827	ENST00000369476;ENST00000362018	T;T	0.28454	1.61;1.61	5.66	5.66	0.87406	.	0.096794	0.46145	D	0.000315	T	0.13841	0.0335	N	0.04090	-0.28	0.34474	D	0.703115	B	0.22746	0.074	B	0.18871	0.023	T	0.09930	-1.0652	10	0.02654	T	1	-8.9293	15.5921	0.76537	0.0:1.0:0.0:0.0	.	18	P56278	MTCP1_HUMAN	K	18	ENSP00000358488:E18K;ENSP00000355058:E18K	ENSP00000355058:E18K	E	-	1	0	MTCP1	153947428	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.200000	0.51051	2.526000	0.85167	0.600000	0.82982	GAG	MTCP1	-	pfam_TCL1_MTCP1,superfamily_TCL1_MTCP1	ENSG00000214827		0.507	MTCP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MTCP1	HGNC	protein_coding	OTTHUMT00000058776.1	31	0.00	0	C	NM_001018025		154294234	154294234	-1	no_errors	ENST00000362018	ensembl	human	known	69_37n	missense	27	27.03	10	SNP	1.000	T
MTHFD1	4522	genome.wustl.edu	37	14	64867571	64867571	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:64867571C>T	ENST00000545908.1	+	2	499	c.270C>T	c.(268-270)ttC>ttT	p.F90F	MTHFD1_ENST00000216605.8_Silent_p.F34F			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	34	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				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)	TACCTGGTTTCACACCACGCC	0.398																																					Colon(18;220 581 13419 18191 31512)|GBM(126;343 1658 28700 44425 52519)	dbGAP											0													129.0	121.0	124.0					14																	64867571		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			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.270C>T	14.37:g.64867571C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5Y2|G3V2B8|Q86VC9|Q9BVP5	Silent	SNP	pfam_Formate_THF_ligase,pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase	p.F90	ENST00000545908.1	37	c.270		14																																																																																			MTHFD1	-	pfam_THF_DH/CycHdrlase_cat_dom	ENSG00000100714		0.398	MTHFD1-002	NOVEL	basic|exp_conf	protein_coding	MTHFD1	HGNC	protein_coding	OTTHUMT00000412167.1	169	0.00	0	C			64867571	64867571	+1	no_errors	ENST00000216605	ensembl	human	known	69_37n	silent	76	45.71	64	SNP	0.032	T
MTHFR	4524	genome.wustl.edu	37	1	11860346	11860346	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:11860346C>T	ENST00000376592.1	-	3	637	c.509G>A	c.(508-510)gGa>gAa	p.G170E	MTHFR_ENST00000376590.3_Missense_Mutation_p.G170E|MTHFR_ENST00000376585.1_Missense_Mutation_p.G211E|MTHFR_ENST00000376583.3_Missense_Mutation_p.G211E			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	170					blood circulation (GO:0008015)|cellular amino acid metabolic process (GO:0006520)|folic acid metabolic process (GO:0046655)|homocysteine metabolic process (GO:0050667)|methionine biosynthetic process (GO:0009086)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to vitamin B2 (GO:0033274)|S-adenosylmethionine metabolic process (GO:0046500)|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)|neuron projection (GO:0043005)	flavin adenine dinucleotide binding (GO:0050660)|methylenetetrahydrofolate reductase (NAD(P)H) activity (GO:0004489)|modified amino acid binding (GO:0072341)|NADP binding (GO:0050661)			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	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)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Fluorouracil(DB00544)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Riboflavin(DB00140)|Tetrahydrofolic acid(DB00116)	GTTGAAGCCTCCCTCCTCCTC	0.547																																						dbGAP											0													299.0	220.0	247.0					1																	11860346		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC053509	CCDS137.1	1p36.3	2014-09-17	2010-05-04		ENSG00000177000	ENSG00000177000	1.5.1.20		7436	protein-coding gene	gene with protein product		607093	"""5,10-methylenetetrahydrofolate reductase (NADPH)"""			7920641	Standard	NM_005957		Approved		uc001atc.2	P42898	OTTHUMG00000002277	ENST00000376592.1:c.509G>A	1.37:g.11860346C>T	ENSP00000365777:p.Gly170Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7A6|Q5SNW6|Q5SNW9|Q7Z6M6|Q8IU73|Q9UQR2	Missense_Mutation	SNP	pfam_Mehydrof_redctse,tigrfam_Fadh2_euk	p.G211E	ENST00000376592.1	37	c.632	CCDS137.1	1	.	.	.	.	.	.	.	.	.	.	C	15.41	2.825175	0.50739	.	.	ENSG00000177000	ENST00000376592;ENST00000376583;ENST00000376590;ENST00000376585	D;D;D;D	0.92911	-3.13;-3.13;-3.13;-3.13	5.76	4.66	0.58398	.	0.392055	0.28940	N	0.013647	D	0.84520	0.5490	N	0.25060	0.705	0.28725	N	0.902801	B;B	0.12013	0.005;0.003	B;B	0.17979	0.02;0.01	T	0.75528	-0.3286	10	0.51188	T	0.08	.	7.7849	0.29087	0.0:0.7896:0.0:0.2104	.	170;211	P42898;Q5SNW6	MTHR_HUMAN;.	E	170;211;170;211	ENSP00000365777:G170E;ENSP00000365767:G211E;ENSP00000365775:G170E;ENSP00000365770:G211E	ENSP00000365767:G211E	G	-	2	0	MTHFR	11782933	0.442000	0.25633	0.997000	0.53966	0.975000	0.68041	1.132000	0.31418	2.735000	0.93741	0.549000	0.68633	GGA	MTHFR	-	pfam_Mehydrof_redctse,tigrfam_Fadh2_euk	ENSG00000177000		0.547	MTHFR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MTHFR	HGNC	protein_coding	OTTHUMT00000006538.1	96	0.00	0	C	NM_005957		11860346	11860346	-1	no_errors	ENST00000376583	ensembl	human	known	69_37n	missense	61	17.57	13	SNP	0.488	T
MTM1	4534	genome.wustl.edu	37	X	149828937	149828937	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:149828937G>T	ENST00000370396.2	+	13	1501	c.1447G>T	c.(1447-1449)Gaa>Taa	p.E483*	MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_Nonsense_Mutation_p.E368*|MTM1_ENST00000413012.2_Nonsense_Mutation_p.E446*|MTM1_ENST00000542741.1_Nonsense_Mutation_p.E388*	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	483	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				endosome to lysosome transport (GO:0008333)|intermediate filament organization (GO:0045109)|mitochondrion distribution (GO:0048311)|mitochondrion morphogenesis (GO:0070584)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|protein transport (GO:0015031)|regulation of vacuole organization (GO:0044088)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	intermediate filament binding (GO:0019215)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					ATTCAACTGTGAATCTGCTCG	0.303																																						dbGAP											0													106.0	94.0	98.0					X																	149828937		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U46024	CCDS14694.1	Xq27.3-q28	2014-09-17			ENSG00000171100	ENSG00000171100		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7448	protein-coding gene	gene with protein product		300415	"""myotubular myopathy 1"""				Standard	NM_000252		Approved		uc004fef.4	Q13496	OTTHUMG00000024158	ENST00000370396.2:c.1447G>T	X.37:g.149828937G>T	ENSP00000359423:p.Glu483*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDB1|B7Z491|F2Z330|Q8NEL1	Nonsense_Mutation	SNP	pfam_Myotub-related,pfam_GRAM,smart_GRAM,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase	p.E483*	ENST00000370396.2	37	c.1447	CCDS14694.1	X	.	.	.	.	.	.	.	.	.	.	G	39	7.907517	0.98554	.	.	ENSG00000171100	ENST00000370396;ENST00000542741;ENST00000543350;ENST00000413012	.	.	.	5.63	5.63	0.86233	.	0.048344	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.7194	0.91687	0.0:0.0:1.0:0.0	.	.	.	.	X	483;388;368;446	.	ENSP00000359423:E483X	E	+	1	0	MTM1	149579595	1.000000	0.71417	0.927000	0.36925	0.997000	0.91878	9.428000	0.97476	2.366000	0.80165	0.600000	0.82982	GAA	MTM1	-	NULL	ENSG00000171100		0.303	MTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MTM1	HGNC	protein_coding	OTTHUMT00000060847.3	194	0.00	0	G	NM_000252		149828937	149828937	+1	no_errors	ENST00000370396	ensembl	human	known	69_37n	nonsense	158	23.67	49	SNP	1.000	T
MTMR14	64419	genome.wustl.edu	37	3	9695347	9695347	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:9695347G>C	ENST00000296003.4	+	2	324	c.202G>C	c.(202-204)Gac>Cac	p.D68H	MTMR14_ENST00000353332.5_Missense_Mutation_p.D68H|MTMR14_ENST00000420925.1_Intron|MTMR14_ENST00000351233.5_Missense_Mutation_p.D68H	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	68					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					GTTTGGCCGAGACTACTGTTT	0.498																																						dbGAP											0													166.0	160.0	162.0					3																	9695347		1975	4173	6148	-	-	-	SO:0001583	missense	0			BC001674	CCDS43043.1, CCDS43044.1, CCDS43045.1	3p26	2011-06-09	2006-12-18	2006-12-18	ENSG00000163719	ENSG00000163719		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	26190	protein-coding gene	gene with protein product	"""egg-derived tyrosine phosphatase homolog (Drosophila)"""	611089	"""chromosome 3 open reading frame 29"""	C3orf29		15186772	Standard	NM_022485		Approved	FLJ22405, FLJ90311, hJumpy, hEDTP	uc003brz.3	Q8NCE2	OTTHUMG00000155111	ENST00000296003.4:c.202G>C	3.37:g.9695347G>C	ENSP00000296003:p.Asp68His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0JTH5|Q0JU83|Q6PIZ4|Q6QE21|Q86VK9|Q8IYK1|Q8TCM7|Q9H6C0	Missense_Mutation	SNP	NULL	p.D68H	ENST00000296003.4	37	c.202	CCDS43043.1	3	.	.	.	.	.	.	.	.	.	.	G	26.8	4.767778	0.90020	.	.	ENSG00000163719	ENST00000353332;ENST00000296003;ENST00000351233;ENST00000419048	T;T;T	0.34072	1.38;1.38;1.38	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.63745	0.2537	M	0.81942	2.565	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.998	T	0.68368	-0.5427	10	0.87932	D	0	-11.4236	17.4274	0.87530	0.0:0.0:1.0:0.0	.	68;68;68	Q8NCE2-3;Q8NCE2-2;Q8NCE2	.;.;MTMRE_HUMAN	H	68	ENSP00000323462:D68H;ENSP00000296003:D68H;ENSP00000334070:D68H	ENSP00000296003:D68H	D	+	1	0	MTMR14	9670347	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.384000	0.90160	2.650000	0.89964	0.561000	0.74099	GAC	MTMR14	-	NULL	ENSG00000163719		0.498	MTMR14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MTMR14	HGNC	protein_coding	OTTHUMT00000338435.1	112	0.00	0	G	NM_022485		9695347	9695347	+1	no_errors	ENST00000296003	ensembl	human	known	69_37n	missense	132	11.41	17	SNP	1.000	C
MTMR2	8898	genome.wustl.edu	37	11	95578204	95578204	+	Silent	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:95578204G>T	ENST00000346299.5	-	11	1639	c.1299C>A	c.(1297-1299)ctC>ctA	p.L433L	MTMR2_ENST00000393223.3_Silent_p.L361L|MTMR2_ENST00000409459.1_Silent_p.L361L|MTMR2_ENST00000352297.7_Silent_p.L361L	NM_016156.5	NP_057240.3	Q13614	MTMR2_HUMAN	myotubularin related protein 2	433	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|dendritic spine maintenance (GO:0097062)|inositol phosphate dephosphorylation (GO:0046855)|myelin assembly (GO:0032288)|negative regulation of endocytosis (GO:0045806)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of myelination (GO:0031642)|negative regulation of receptor catabolic process (GO:2000645)|negative regulation of receptor internalization (GO:0002091)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of early endosome to late endosome transport (GO:2000643)|protein dephosphorylation (GO:0006470)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endosome (GO:0005768)|neuronal postsynaptic density (GO:0097481)|nucleus (GO:0005634)|synaptic membrane (GO:0097060)|synaptic vesicle (GO:0008021)|vacuolar membrane (GO:0005774)	phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CATCCAACATGAGCATGGCAA	0.463																																						dbGAP											0													162.0	135.0	144.0					11																	95578204		2201	4298	6499	-	-	-	SO:0001819	synonymous_variant	0			U58033	CCDS8305.1, CCDS8306.1	11q22	2014-09-17			ENSG00000087053	ENSG00000087053		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7450	protein-coding gene	gene with protein product		603557		CMT4B		8640223, 9736772	Standard	NM_016156		Approved	KIAA1073	uc001pfu.3	Q13614	OTTHUMG00000153837	ENST00000346299.5:c.1299C>A	11.37:g.95578204G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NN98|Q9UPS9	Silent	SNP	pfam_Myotub-related,pfam_GRAM,smart_GRAM,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase	p.L433	ENST00000346299.5	37	c.1299	CCDS8305.1	11																																																																																			MTMR2	-	smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase	ENSG00000087053		0.463	MTMR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR2	HGNC	protein_coding	OTTHUMT00000332620.1	69	0.00	0	G	NM_016156		95578204	95578204	-1	no_errors	ENST00000346299	ensembl	human	known	69_37n	silent	50	28.57	20	SNP	1.000	T
MTMR2	8898	genome.wustl.edu	37	11	95581039	95581039	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:95581039C>G	ENST00000346299.5	-	10	1358	c.1018G>C	c.(1018-1020)Gaa>Caa	p.E340Q	MTMR2_ENST00000484818.1_5'Flank|MTMR2_ENST00000393223.3_Missense_Mutation_p.E268Q|MTMR2_ENST00000409459.1_Missense_Mutation_p.E268Q|MTMR2_ENST00000352297.7_Missense_Mutation_p.E268Q	NM_016156.5	NP_057240.3	Q13614	MTMR2_HUMAN	myotubularin related protein 2	340	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|dendritic spine maintenance (GO:0097062)|inositol phosphate dephosphorylation (GO:0046855)|myelin assembly (GO:0032288)|negative regulation of endocytosis (GO:0045806)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of myelination (GO:0031642)|negative regulation of receptor catabolic process (GO:2000645)|negative regulation of receptor internalization (GO:0002091)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of early endosome to late endosome transport (GO:2000643)|protein dephosphorylation (GO:0006470)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endosome (GO:0005768)|neuronal postsynaptic density (GO:0097481)|nucleus (GO:0005634)|synaptic membrane (GO:0097060)|synaptic vesicle (GO:0008021)|vacuolar membrane (GO:0005774)	phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TAGGCATCTTCACTTTCATAA	0.353																																						dbGAP											0													123.0	116.0	118.0					11																	95581039		2201	4298	6499	-	-	-	SO:0001583	missense	0			U58033	CCDS8305.1, CCDS8306.1	11q22	2014-09-17			ENSG00000087053	ENSG00000087053		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7450	protein-coding gene	gene with protein product		603557		CMT4B		8640223, 9736772	Standard	NM_016156		Approved	KIAA1073	uc001pfu.3	Q13614	OTTHUMG00000153837	ENST00000346299.5:c.1018G>C	11.37:g.95581039C>G	ENSP00000345752:p.Glu340Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NN98|Q9UPS9	Missense_Mutation	SNP	pfam_Myotub-related,pfam_GRAM,smart_GRAM,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase	p.E340Q	ENST00000346299.5	37	c.1018	CCDS8305.1	11	.	.	.	.	.	.	.	.	.	.	C	19.27	3.794886	0.70452	.	.	ENSG00000087053	ENST00000346299;ENST00000393223;ENST00000409459;ENST00000352297;ENST00000444541;ENST00000546018	D;D;D;D;D	0.93133	-3.17;-3.17;-3.17;-3.17;-3.17	5.59	5.59	0.84812	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.000000	0.85682	D	0.000000	D	0.96654	0.8908	M	0.86651	2.83	0.80722	D	1	P;P	0.52692	0.955;0.955	P;P	0.57101	0.813;0.74	D	0.96927	0.9678	10	0.72032	D	0.01	.	19.5867	0.95492	0.0:1.0:0.0:0.0	.	340;340	A8K5G2;Q13614	.;MTMR2_HUMAN	Q	340;268;268;268;268;323	ENSP00000345752:E340Q;ENSP00000376915:E268Q;ENSP00000386882:E268Q;ENSP00000343737:E268Q;ENSP00000396020:E268Q	ENSP00000345752:E340Q	E	-	1	0	MTMR2	95220687	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	7.755000	0.85180	2.633000	0.89246	0.655000	0.94253	GAA	MTMR2	-	pfam_Myotub-related	ENSG00000087053		0.353	MTMR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR2	HGNC	protein_coding	OTTHUMT00000332620.1	136	0.00	0	C	NM_016156		95581039	95581039	-1	no_errors	ENST00000346299	ensembl	human	known	69_37n	missense	75	42.31	55	SNP	1.000	G
MTO1	25821	genome.wustl.edu	37	6	74201994	74201994	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:74201994G>T	ENST00000370300.4	+	11	1840	c.1750G>T	c.(1750-1752)Gat>Tat	p.D584Y	MTO1_ENST00000498286.1_Missense_Mutation_p.D559Y|MTO1_ENST00000415954.2_Missense_Mutation_p.D599Y|RP11-505P4.6_ENST00000423099.1_RNA|MTO1_ENST00000370305.1_Missense_Mutation_p.D510Y	NM_012123.3|NM_133645.2	NP_036255.2|NP_598400.1	Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1	584					mitochondrial tRNA wobble uridine modification (GO:0070899)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						AGTTGACATGGATTCATTAGC	0.368																																						dbGAP											0													91.0	90.0	90.0					6																	74201994		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF132937	CCDS4979.1, CCDS34485.1, CCDS47452.1	6q14.1	2013-05-07	2013-05-07		ENSG00000135297	ENSG00000135297			19261	protein-coding gene	gene with protein product		614667	"""mitochondrial translation optimization 1 homolog (S. cerevisiae)"""			12011058, 22608499	Standard	NM_012123		Approved		uc003pgy.4	Q9Y2Z2	OTTHUMG00000015032	ENST00000370300.4:c.1750G>T	6.37:g.74201994G>T	ENSP00000359323:p.Asp584Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQB5|Q5SWL2|Q5SWL3|Q5SWL4|Q8NDN7|Q8WZ57|Q96FE6|Q9BS06	Missense_Mutation	SNP	pfam_GIDA-rel,pfam_FAD_bind_dom,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_GidA	p.D599Y	ENST00000370300.4	37	c.1795	CCDS4979.1	6	.	.	.	.	.	.	.	.	.	.	G	13.99	2.403334	0.42613	.	.	ENSG00000135297	ENST00000415954;ENST00000498286;ENST00000357845;ENST00000370305;ENST00000370300;ENST00000521156	.	.	.	5.22	2.34	0.29019	.	0.362497	0.30464	N	0.009571	T	0.28433	0.0703	L	0.42581	1.335	0.27685	N	0.946315	P;P;B;B	0.40230	0.708;0.589;0.338;0.429	P;B;P;B	0.50490	0.642;0.179;0.521;0.322	T	0.09185	-1.0686	9	0.87932	D	0	-7.0095	9.0155	0.36168	0.2447:0.0:0.7553:0.0	.	599;462;559;584	Q9Y2Z2-6;Q9Y2Z2-2;Q9Y2Z2-4;Q9Y2Z2	.;.;.;MTO1_HUMAN	Y	599;559;462;510;584;114	.	ENSP00000350506:D462Y	D	+	1	0	MTO1	74258715	1.000000	0.71417	0.954000	0.39281	0.845000	0.48019	1.479000	0.35453	0.536000	0.28733	0.460000	0.39030	GAT	MTO1	-	NULL	ENSG00000135297		0.368	MTO1-003	KNOWN	basic|CCDS	protein_coding	MTO1	HGNC	protein_coding	OTTHUMT00000041215.2	100	0.00	0	G	NM_012123		74201994	74201994	+1	no_errors	ENST00000415954	ensembl	human	known	69_37n	missense	64	13.51	10	SNP	0.923	T
MTOR	2475	genome.wustl.edu	37	1	11177099	11177099	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:11177099G>A	ENST00000361445.4	-	50	7054	c.6978C>T	c.(6976-6978)gtC>gtT	p.V2326V	MTOR_ENST00000376838.1_Silent_p.V531V	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2326	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	CCATTGACATGACCGCTAAAG	0.378																																						dbGAP											0													152.0	144.0	146.0					1																	11177099		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.6978C>T	1.37:g.11177099G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Silent	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_FKBP_rapamycin-assoc_FKBP12-bd,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_FKBP_rapamycin-assoc_FKBP12-bd,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.V2326	ENST00000361445.4	37	c.6978	CCDS127.1	1																																																																																			MTOR	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000198793		0.378	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTOR	HGNC	protein_coding	OTTHUMT00000005558.1	107	0.00	0	G	NM_004958		11177099	11177099	-1	no_errors	ENST00000361445	ensembl	human	known	69_37n	silent	73	26.26	26	SNP	1.000	A
MTOR	2475	genome.wustl.edu	37	1	11288917	11288917	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:11288917G>A	ENST00000361445.4	-	19	2914	c.2838C>T	c.(2836-2838)ttC>ttT	p.F946F	RNU6-291P_ENST00000384720.1_RNA	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	946					cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	CAGCTGGGTAGAACTCATCCA	0.493																																						dbGAP											0													178.0	141.0	153.0					1																	11288917		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.2838C>T	1.37:g.11288917G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Silent	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_FKBP_rapamycin-assoc_FKBP12-bd,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_FKBP_rapamycin-assoc_FKBP12-bd,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.F946	ENST00000361445.4	37	c.2838	CCDS127.1	1																																																																																			MTOR	-	pfam_DUF3385_TOR,superfamily_ARM-type_fold	ENSG00000198793		0.493	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTOR	HGNC	protein_coding	OTTHUMT00000005558.1	64	0.00	0	G	NM_004958		11288917	11288917	-1	no_errors	ENST00000361445	ensembl	human	known	69_37n	silent	53	22.06	15	SNP	1.000	A
MTR	4548	genome.wustl.edu	37	1	236959008	236959008	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:236959008C>A	ENST00000366577.5	+	1	399	c.5C>A	c.(4-6)tCa>tAa	p.S2*	MTR_ENST00000535889.1_Nonsense_Mutation_p.S2*|MTR_ENST00000418145.2_Missense_Mutation_p.H130N	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	2					cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	GACAACATGTCACCCGCGCTC	0.642																																						dbGAP											0													99.0	77.0	84.0					1																	236959008		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.5C>A	1.37:g.236959008C>A	ENSP00000355536:p.Ser2*	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Nonsense_Mutation	SNP	pfam_S_MeTrfase,pfam_VitB12-dep_Met_synth_activ_dom,pfam_Pterin-binding,pfam_Cbl-bd_cap,pfam_Cobalamin-bd,superfamily_VitB12-dep_Met_synth_activ_dom,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,superfamily_Cobalamin-bd,superfamily_Cbl-bd_cap,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,pfscan_S_MeTrfase,pfscan_Pterin-binding,tigrfam_MetH	p.S2*	ENST00000366577.5	37	c.5	CCDS1614.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.425165|9.425165	0.99167|0.99167	.|.	.|.	ENSG00000116984|ENSG00000116984	ENST00000418145|ENST00000417743;ENST00000366577;ENST00000535889	.|.	.|.	.|.	3.79|3.79	0.698|0.698	0.18087|0.18087	.|.	.|0.731141	.|0.11219	.|N	.|0.586943	T|.	0.15998|.	0.0385|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.39057|.	-0.9632|.	4|.	0.59425|0.02654	D|T	0.04|1	-0.0447|-0.0447	7.0411|7.0411	0.25021|0.25021	0.1874:0.4483:0.3643:0.0|0.1874:0.4483:0.3643:0.0	.|.	.|.	.|.	.|.	N|X	130|2	.|.	ENSP00000402255:H130N|ENSP00000355536:S2X	H|S	+|+	1|2	0|0	MTR|MTR	235025631|235025631	0.012000|0.012000	0.17670|0.17670	0.000000|0.000000	0.03702|0.03702	0.916000|0.916000	0.54674|0.54674	0.332000|0.332000	0.19751|0.19751	0.149000|0.149000	0.19098|0.19098	0.638000|0.638000	0.83543|0.83543	CAC|TCA	MTR	-	NULL	ENSG00000116984		0.642	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTR	HGNC	protein_coding	OTTHUMT00000096632.2	23	0.00	0	C	NM_000254		236959008	236959008	+1	no_errors	ENST00000366577	ensembl	human	known	69_37n	nonsense	16	33.33	8	SNP	0.001	A
MTUS2	23281	genome.wustl.edu	37	13	29599594	29599594	+	Silent	SNP	G	G	A	rs201312919		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr13:29599594G>A	ENST00000431530.3	+	1	847	c.789G>A	c.(787-789)caG>caA	p.Q263Q		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	253						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AAAGCAAGCAGAGCACTCCCT	0.547																																						dbGAP											0													44.0	46.0	45.0					13																	29599594		2197	4297	6494	-	-	-	SO:0001819	synonymous_variant	0			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.789G>A	13.37:g.29599594G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Silent	SNP	NULL	p.Q263	ENST00000431530.3	37	c.789	CCDS45022.1	13																																																																																			MTUS2	-	NULL	ENSG00000132938		0.547	MTUS2-002	KNOWN	basic|CCDS	protein_coding	MTUS2	HGNC	protein_coding	OTTHUMT00000044336.3	13	0.00	0	G	XM_166270		29599594	29599594	+1	no_errors	ENST00000431530	ensembl	human	known	69_37n	silent	12	47.83	11	SNP	0.135	A
MTUS2	23281	genome.wustl.edu	37	13	29599939	29599939	+	Silent	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr13:29599939C>A	ENST00000431530.3	+	1	1192	c.1134C>A	c.(1132-1134)ctC>ctA	p.L378L		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	368						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						ACAGTGACCTCCACCACCTTG	0.572																																						dbGAP											0													41.0	44.0	43.0					13																	29599939		2039	4195	6234	-	-	-	SO:0001819	synonymous_variant	0			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.1134C>A	13.37:g.29599939C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Silent	SNP	NULL	p.L378	ENST00000431530.3	37	c.1134	CCDS45022.1	13																																																																																			MTUS2	-	NULL	ENSG00000132938		0.572	MTUS2-002	KNOWN	basic|CCDS	protein_coding	MTUS2	HGNC	protein_coding	OTTHUMT00000044336.3	21	0.00	0	C	XM_166270		29599939	29599939	+1	no_errors	ENST00000431530	ensembl	human	known	69_37n	silent	24	31.43	11	SNP	0.000	A
MTRF1	9617	genome.wustl.edu	37	13	41791309	41791309	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr13:41791309G>A	ENST00000379480.4	-	10	1380	c.1280C>T	c.(1279-1281)tCa>tTa	p.S427L	MTRF1_ENST00000379477.1_Missense_Mutation_p.S427L|MTRF1_ENST00000430347.2_3'UTR	NM_004294.2	NP_004285.2	O75570	RF1M_HUMAN	mitochondrial translational release factor 1	427					regulation of translational termination (GO:0006449)	mitochondrion (GO:0005739)	translation release factor activity (GO:0003747)|translation release factor activity, codon specific (GO:0016149)			breast(1)|endometrium(4)|large_intestine(3)|lung(6)	14		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)		TTCATCTGCTGATTGAAGCAG	0.323																																						dbGAP											0													72.0	77.0	75.0					13																	41791309		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF072934	CCDS9378.1	13q14.1-q14.3	2008-07-18			ENSG00000120662	ENSG00000120662			7469	protein-coding gene	gene with protein product	"""mitochontrial peptide chain release factor 1"""	604601				9838146, 10773675	Standard	NM_004294		Approved	RF1, MTTRF1, MGC47721	uc001uxy.3	O75570	OTTHUMG00000016790	ENST00000379480.4:c.1280C>T	13.37:g.41791309G>A	ENSP00000368793:p.Ser427Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DG01|Q5T6Y5|Q8IUQ6	Missense_Mutation	SNP	pfam_Pep_chain_release_fac_I_II,pfam_PCRF,smart_PCRF	p.S427L	ENST00000379480.4	37	c.1280	CCDS9378.1	13	.	.	.	.	.	.	.	.	.	.	G	13.09	2.133052	0.37630	.	.	ENSG00000120662	ENST00000379480;ENST00000379477	T;T	0.10288	2.89;2.89	5.47	5.47	0.80525	.	0.206502	0.42682	D	0.000663	T	0.30603	0.0770	L	0.56769	1.78	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.00533	-1.1685	10	0.62326	D	0.03	.	16.8155	0.85733	0.0:0.0:1.0:0.0	.	427	O75570	RF1M_HUMAN	L	427	ENSP00000368793:S427L;ENSP00000368790:S427L	ENSP00000368790:S427L	S	-	2	0	MTRF1	40689309	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.539000	0.53604	2.578000	0.87016	0.650000	0.86243	TCA	MTRF1	-	NULL	ENSG00000120662		0.323	MTRF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	MTRF1	HGNC	protein_coding	OTTHUMT00000044666.3	94	0.00	0	G	NM_004294		41791309	41791309	-1	no_errors	ENST00000379477	ensembl	human	known	69_37n	missense	46	47.73	42	SNP	1.000	A
MUC12	10071	genome.wustl.edu	37	7	100640092	100640092	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:100640092C>T	ENST00000379442.3	+	5	6677	c.6677C>T	c.(6676-6678)tCa>tTa	p.S2226L	MUC12_ENST00000536621.1_Missense_Mutation_p.S2083L			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	2226	28 X 19 AA approximate tandem repeats of E-E-S-X-X-X-H-X-X-P-X-X-T-X-T-X-X-X-P.|Ser-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)				breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						CACCCAGCCTCAACTCACACG	0.592																																						dbGAP											0													1.0	1.0	1.0					7																	100640092		36	209	245	-	-	-	SO:0001583	missense	0			AF147790, AF147791	CCDS55139.1	7q22	2007-01-17	2006-03-14		ENSG00000205277	ENSG00000205277		"""Mucins"""	7510	protein-coding gene	gene with protein product		604609	"""mucin 11"""	MUC11		10463611	Standard	NM_001164462		Approved		uc003uxo.3	Q9UKN1	OTTHUMG00000157042	ENST00000379442.3:c.6677C>T	7.37:g.100640092C>T	ENSP00000368755:p.Ser2226Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6ND38|F5GWV9|Q9UKN0	Missense_Mutation	SNP	pfam_SEA	p.S2226L	ENST00000379442.3	37	c.6677		7	.	.	.	.	.	.	.	.	.	.	-	2.819	-0.245178	0.05906	.	.	ENSG00000205277	ENST00000379442;ENST00000536621	T;T	0.12569	2.67;2.67	1.12	0.0228	0.14134	.	.	.	.	.	T	0.06096	0.0158	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.36625	-0.9740	7	0.41790	T	0.15	.	3.1605	0.06518	0.2993:0.4031:0.2976:0.0	.	.	.	.	L	2226;2083	ENSP00000368755:S2226L;ENSP00000441929:S2083L	ENSP00000368755:S2226L	S	+	2	0	MUC12	100426812	0.007000	0.16637	0.001000	0.08648	0.004000	0.04260	0.927000	0.28818	0.004000	0.14682	0.162000	0.16502	TCA	MUC12	-	NULL	ENSG00000205277		0.592	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	109	0.00	0	C	XM_379904		100640092	100640092	+1	no_errors	ENST00000379442	ensembl	human	known	69_37n	missense	136	18.56	31	SNP	0.001	T
MUC16	94025	genome.wustl.edu	37	19	9002175	9002175	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:9002175C>G	ENST00000397910.4	-	52	40532	c.40329G>C	c.(40327-40329)caG>caC	p.Q13443H	MUC16_ENST00000380951.5_Missense_Mutation_p.Q84H	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13445					cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCATAGAGCTCTGATGGGTGA	0.502																																						dbGAP											0													96.0	85.0	88.0					19																	9002175		1967	4147	6114	-	-	-	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.40329G>C	19.37:g.9002175C>G	ENSP00000381008:p.Gln13443His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.Q13443H	ENST00000397910.4	37	c.40329	CCDS54212.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	3.617|3.617	-0.078435|-0.078435	0.07184|0.07184	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000397910;ENST00000380951|ENST00000542240	T;T|.	0.29917|.	1.55;1.55|.	1.38|1.38	-2.76|-2.76	0.05896|0.05896	.|.	.|.	.|.	.|.	.|.	T|T	0.28665|0.28665	0.0710|0.0710	L|L	0.36672|0.36672	1.1|1.1	.|.	.|.	.|.	B;D|.	0.67145|.	0.197;0.996|.	B;D|.	0.74348|.	0.014;0.983|.	T|T	0.31943|0.31943	-0.9925|-0.9925	8|4	0.51188|.	T|.	0.08|.	.|.	3.7577|3.7577	0.08592|0.08592	0.0:0.3017:0.4678:0.2305|0.0:0.3017:0.4678:0.2305	.|.	21088;13443|.	Q8WXI7;B5ME49|.	MUC16_HUMAN;.|.	H|T	13443;84|283	ENSP00000381008:Q13443H;ENSP00000370338:Q84H|.	ENSP00000370338:Q84H|.	Q|R	-|-	3|2	2|0	MUC16|MUC16	8863175|8863175	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.033000|0.033000	0.12548|0.12548	-0.281000|-0.281000	0.08456|0.08456	-1.173000|-1.173000	0.02758|0.02758	-1.026000|-1.026000	0.02426|0.02426	CAG|AGA	MUC16	-	NULL	ENSG00000181143		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	117	0.00	0	C	NM_024690		9002175	9002175	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	missense	71	19.32	17	SNP	0.000	G
MUC16	94025	genome.wustl.edu	37	19	9046459	9046459	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:9046459C>G	ENST00000397910.4	-	5	35375	c.35172G>C	c.(35170-35172)agG>agC	p.R11724S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11726	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGCTTCTGTCCTAGGACTGG	0.507																																						dbGAP											0													121.0	116.0	117.0					19																	9046459		1979	4159	6138	-	-	-	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.35172G>C	19.37:g.9046459C>G	ENSP00000381008:p.Arg11724Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.R11724S	ENST00000397910.4	37	c.35172	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	c	7.251	0.603192	0.13939	.	.	ENSG00000181143	ENST00000397910	T	0.02121	4.44	3.61	-3.44	0.04796	.	.	.	.	.	T	0.01222	0.0040	N	0.08118	0	.	.	.	B	0.16396	0.017	B	0.14023	0.01	T	0.47071	-0.9145	8	0.87932	D	0	.	3.3512	0.07153	0.2899:0.3595:0.0:0.3506	.	11724	B5ME49	.	S	11724	ENSP00000381008:R11724S	ENSP00000381008:R11724S	R	-	3	2	MUC16	8907459	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.183000	0.16919	-0.572000	0.06006	-0.265000	0.10407	AGG	MUC16	-	NULL	ENSG00000181143		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	94	0.00	0	C	NM_024690		9046459	9046459	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	missense	80	31.03	36	SNP	0.000	G
MUC16	94025	genome.wustl.edu	37	19	9049754	9049754	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:9049754G>C	ENST00000397910.4	-	5	32080	c.31877C>G	c.(31876-31878)tCt>tGt	p.S10626C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10628	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGCTGTGGAAGATACAGTGTC	0.478																																						dbGAP											0													108.0	101.0	103.0					19																	9049754		1958	4149	6107	-	-	-	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.31877C>G	19.37:g.9049754G>C	ENSP00000381008:p.Ser10626Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.S10626C	ENST00000397910.4	37	c.31877	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	4.283	0.051625	0.08291	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	2.5	-4.99	0.03010	.	.	.	.	.	T	0.03434	0.0099	L	0.29908	0.895	.	.	.	D	0.53462	0.96	P	0.52454	0.699	T	0.17048	-1.0382	8	0.87932	D	0	.	3.8534	0.08965	0.4476:0.0:0.3876:0.1648	.	10626	B5ME49	.	C	10626	ENSP00000381008:S10626C	ENSP00000381008:S10626C	S	-	2	0	MUC16	8910754	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.464000	0.02359	-1.195000	0.02680	0.450000	0.29827	TCT	MUC16	-	NULL	ENSG00000181143		0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	140	0.00	0	G	NM_024690		9049754	9049754	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	missense	97	24.81	32	SNP	0.000	C
MUC16	94025	genome.wustl.edu	37	19	9062050	9062050	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:9062050G>A	ENST00000397910.4	-	3	25599	c.25396C>T	c.(25396-25398)Cag>Tag	p.Q8466*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8468	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGGTGAACTGATCAGGCCCT	0.498																																						dbGAP											0													168.0	157.0	161.0					19																	9062050		1980	4162	6142	-	-	-	SO:0001587	stop_gained	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.25396C>T	19.37:g.9062050G>A	ENSP00000381008:p.Gln8466*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.Q8466*	ENST00000397910.4	37	c.25396	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	59	39.478199	0.99985	.	.	ENSG00000181143	ENST00000397910	.	.	.	2.57	0.174	0.15040	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	4.6963	0.12806	0.0:0.2474:0.499:0.2536	.	.	.	.	X	8466	.	ENSP00000381008:Q8466X	Q	-	1	0	MUC16	8923050	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.339000	0.07832	0.121000	0.18284	-0.553000	0.04205	CAG	MUC16	-	NULL	ENSG00000181143		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	46	0.00	0	G	NM_024690		9062050	9062050	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	nonsense	32	27.27	12	SNP	0.001	A
MUC16	94025	genome.wustl.edu	37	19	9066056	9066056	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:9066056G>A	ENST00000397910.4	-	3	21593	c.21390C>T	c.(21388-21390)ctC>ctT	p.L7130L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7132	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGCTAGAGGTGAGAAGTGAAG	0.507																																						dbGAP											0													201.0	185.0	190.0					19																	9066056		2059	4207	6266	-	-	-	SO:0001819	synonymous_variant	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.21390C>T	19.37:g.9066056G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.L7130	ENST00000397910.4	37	c.21390	CCDS54212.1	19																																																																																			MUC16	-	NULL	ENSG00000181143		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	272	0.00	0	G	NM_024690		9066056	9066056	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	silent	264	23.48	81	SNP	0.000	A
MUC16	94025	genome.wustl.edu	37	19	9087697	9087697	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:9087697G>A	ENST00000397910.4	-	1	4321	c.4118C>T	c.(4117-4119)tCa>tTa	p.S1373L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1373	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGATTGGGTGAACTTGAGAT	0.468																																						dbGAP											0													169.0	174.0	172.0					19																	9087697		2191	4293	6484	-	-	-	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.4118C>T	19.37:g.9087697G>A	ENSP00000381008:p.Ser1373Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.S1373L	ENST00000397910.4	37	c.4118	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	1.502	-0.551821	0.03996	.	.	ENSG00000181143	ENST00000397910	T	0.02656	4.21	1.62	-3.25	0.05079	.	.	.	.	.	T	0.01421	0.0046	N	0.08118	0	.	.	.	B	0.06786	0.001	B	0.01281	0.0	T	0.46638	-0.9177	8	0.87932	D	0	.	0.7386	0.00970	0.4324:0.174:0.2184:0.1751	.	1373	B5ME49	.	L	1373	ENSP00000381008:S1373L	ENSP00000381008:S1373L	S	-	2	0	MUC16	8948697	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.448000	0.02394	-1.908000	0.01086	-0.680000	0.03767	TCA	MUC16	-	NULL	ENSG00000181143		0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	270	0.00	0	G	NM_024690		9087697	9087697	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	missense	180	28.57	72	SNP	0.000	A
MUC20	200958	genome.wustl.edu	37	3	195452870	195452870	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:195452870G>A	ENST00000447234.2	+	2	1522	c.1396G>A	c.(1396-1398)Gaa>Aaa	p.E466K	MUC20_ENST00000320736.6_Missense_Mutation_p.E295K|MUC20_ENST00000436408.1_Missense_Mutation_p.E466K|MUC20_ENST00000445522.2_Missense_Mutation_p.E431K	NM_001282506.1	NP_001269435.1	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	466	Involved in oligomerization.				activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260)	basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		TGACTCCACTGAAGCAAAACC	0.617																																						dbGAP											0													70.0	60.0	63.0					3																	195452870		2187	4268	6455	-	-	-	SO:0001583	missense	0			AB037780	CCDS63877.1	3q29	2008-08-07	2006-03-14		ENSG00000176945	ENSG00000176945		"""Mucins"""	23282	protein-coding gene	gene with protein product		610360				14565953	Standard	NM_001282506		Approved	FLJ14408, KIAA1359	uc010hzo.3	Q8N307	OTTHUMG00000155823	ENST00000447234.2:c.1396G>A	3.37:g.195452870G>A	ENSP00000414350:p.Glu466Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8	Missense_Mutation	SNP	NULL	p.E466K	ENST00000447234.2	37	c.1396		3	.	.	.	.	.	.	.	.	.	.	G	8.997	0.979161	0.18812	.	.	ENSG00000176945	ENST00000447234;ENST00000320736;ENST00000436408;ENST00000445522	T;T;T;T	0.37752	1.7;2.04;1.85;1.18	4.28	2.47	0.30058	.	0.677507	0.13088	N	0.414779	T	0.22513	0.0543	N	0.20986	0.625	0.09310	N	1	B	0.24963	0.115	B	0.24974	0.057	T	0.19031	-1.0318	10	0.35671	T	0.21	-0.4165	6.4066	0.21668	0.2241:0.0:0.7759:0.0	.	295	E9PH32	.	K	466;295;466;431	ENSP00000414350:E466K;ENSP00000325431:E295K;ENSP00000396774:E466K;ENSP00000405629:E431K	ENSP00000325431:E295K	E	+	1	0	MUC20	196938541	0.069000	0.21087	0.005000	0.12908	0.004000	0.04260	0.769000	0.26604	0.554000	0.29061	0.514000	0.50259	GAA	MUC20	-	NULL	ENSG00000176945		0.617	MUC20-001	KNOWN	basic|appris_candidate	protein_coding	MUC20	HGNC	protein_coding	OTTHUMT00000341835.1	32	0.00	0	G	NM_152673		195452870	195452870	+1	no_errors	ENST00000447234	ensembl	human	known	69_37n	missense	47	25.40	16	SNP	0.005	A
MUC6	4588	genome.wustl.edu	37	11	1016002	1016002	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:1016002G>A	ENST00000421673.2	-	31	6849	c.6799C>T	c.(6799-6801)Cag>Tag	p.Q2267*		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2267	Ser-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTGGTGGACTGAGAGGAGAAG	0.637																																						dbGAP											0													137.0	161.0	153.0					11																	1016002		2178	4249	6427	-	-	-	SO:0001587	stop_gained	0			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.6799C>T	11.37:g.1016002G>A	ENSP00000406861:p.Gln2267*	Somatic		WXS	Illumina GAIIx	Phase_IV	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Nonsense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.Q2267*	ENST00000421673.2	37	c.6799	CCDS44513.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.44|15.44	2.833712|2.833712	0.50951|0.50951	.|.	.|.	ENSG00000184956|ENSG00000184956	ENST00000421673|ENST00000532016	.|T	.|0.20738	.|2.05	3.33|3.33	2.34|2.34	0.29019|0.29019	.|.	.|.	.|.	.|.	.|.	.|T	.|0.30386	.|0.0763	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.45131	.|-0.9282	.|5	0.22109|0.87932	T|D	0.4|0	.|.	9.6259|9.6259	0.39750|0.39750	0.0:0.0:0.7798:0.2202|0.0:0.0:0.7798:0.2202	.|.	.|.	.|.	.|.	X|L	2267|51	.|ENSP00000433246:S51L	ENSP00000406861:Q2267X|ENSP00000433246:S51L	Q|S	-|-	1|2	0|0	MUC6|MUC6	1006002|1006002	0.002000|0.002000	0.14202|0.14202	0.007000|0.007000	0.13788|0.13788	0.039000|0.039000	0.13416|0.13416	0.788000|0.788000	0.26872|0.26872	0.615000|0.615000	0.30124|0.30124	0.448000|0.448000	0.29417|0.29417	CAG|TCA	MUC6	-	NULL	ENSG00000184956		0.637	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC6	HGNC	protein_coding	OTTHUMT00000382120.2	143	0.00	0	G	XM_290540		1016002	1016002	-1	no_errors	ENST00000421673	ensembl	human	known	69_37n	nonsense	160	15.79	30	SNP	0.116	A
MUC5B	727897	genome.wustl.edu	37	11	1271766	1271766	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:1271766C>G	ENST00000529681.1	+	31	13714	c.13656C>G	c.(13654-13656)ccC>ccG	p.P4552P	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.P4555P	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4552	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)		CAGCCACACCCTCCTCCACTC	0.662																																						dbGAP											0													56.0	83.0	74.0					11																	1271766		2000	4145	6145	-	-	-	SO:0001819	synonymous_variant	0			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.13656C>G	11.37:g.1271766C>G		Somatic		WXS	Illumina GAIIx	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.P4555	ENST00000529681.1	37	c.13665	CCDS44515.2	11																																																																																			MUC5B	-	NULL	ENSG00000117983		0.662	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	189	0.00	0	C	XM_001126093		1271766	1271766	+1	no_errors	ENST00000447027	ensembl	human	known	69_37n	silent	230	16.61	46	SNP	0.120	G
MX2	4600	genome.wustl.edu	37	21	42780062	42780062	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr21:42780062G>A	ENST00000330714.3	+	14	2234	c.2050G>A	c.(2050-2052)Gag>Aag	p.E684K		NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	MX dynamin-like GTPase 2	684	GED. {ECO:0000255|PROSITE- ProRule:PRU00720}.				cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|GTP catabolic process (GO:0006184)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of nucleocytoplasmic transport (GO:0046822)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				AGAGCAGAGTGAGACCGCTAC	0.473																																						dbGAP											0													66.0	64.0	65.0					21																	42780062		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13672.1	21q22.3	2014-07-15	2014-07-15		ENSG00000183486	ENSG00000183486			7533	protein-coding gene	gene with protein product	"""interferon-regulated resistance GTP-binding protein MXB"", ""second interferon-induced protein p78"""	147890	"""myxovirus (influenza) resistance 2, homolog of murine"", ""myxovirus (influenza virus) resistance 2 (mouse)"""			2481229, 8798556	Standard	NM_002463		Approved	MXB	uc002yzf.1	P20592	OTTHUMG00000086753	ENST00000330714.3:c.2050G>A	21.37:g.42780062G>A	ENSP00000333657:p.Glu684Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z5D3|D3DSI7	Missense_Mutation	SNP	pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,superfamily_CH-domain,smart_Dynamin_GTPase,smart_GED,prints_Dynamin	p.E684K	ENST00000330714.3	37	c.2050	CCDS13672.1	21	.	.	.	.	.	.	.	.	.	.	G	21.9	4.215266	0.79352	.	.	ENSG00000183486	ENST00000330714;ENST00000398632	T	0.57436	0.4	3.72	3.72	0.42706	GTPase effector domain, GED (1);Dynamin GTPase effector (2);	0.253651	0.37348	N	0.002137	T	0.52964	0.1767	L	0.46157	1.445	0.80722	D	1	P	0.37688	0.605	P	0.45660	0.489	T	0.59150	-0.7508	10	0.72032	D	0.01	.	11.7227	0.51691	0.0:0.0:1.0:0.0	.	684	P20592	MX2_HUMAN	K	684;158	ENSP00000333657:E684K	ENSP00000333657:E684K	E	+	1	0	MX2	41701932	0.985000	0.35326	0.032000	0.17829	0.180000	0.23129	4.353000	0.59411	2.038000	0.60285	0.557000	0.71058	GAG	MX2	-	pfam_GED,smart_GED	ENSG00000183486		0.473	MX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MX2	HGNC	protein_coding	OTTHUMT00000195147.1	73	0.00	0	G	NM_002463		42780062	42780062	+1	no_errors	ENST00000330714	ensembl	human	known	69_37n	missense	47	17.54	10	SNP	0.636	A
MXRA5	25878	genome.wustl.edu	37	X	3229461	3229461	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:3229461C>T	ENST00000217939.6	-	7	6937	c.6783G>A	c.(6781-6783)ctG>ctA	p.L2261L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2261	Ig-like C2-type 7.					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)				AGTCCACTTTCAGGTCACCCC	0.557																																						dbGAP											0													67.0	63.0	64.0					X																	3229461		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			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.6783G>A	X.37:g.3229461C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P1M7|Q9Y3Y8	Silent	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.L2261	ENST00000217939.6	37	c.6783	CCDS14124.1	X																																																																																			MXRA5	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000101825		0.557	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	HGNC	protein_coding	OTTHUMT00000055655.2	47	0.00	0	C	NM_015419		3229461	3229461	-1	no_errors	ENST00000217939	ensembl	human	known	69_37n	silent	48	21.31	13	SNP	0.433	T
MXRA5	25878	genome.wustl.edu	37	X	3238649	3238649	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:3238649C>T	ENST00000217939.6	-	5	5231	c.5077G>A	c.(5077-5079)Gac>Aac	p.D1693N		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1693						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)				TTGAATTGGTCAGTTCTTCGG	0.418																																						dbGAP											0													151.0	143.0	146.0					X																	3238649		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.5077G>A	X.37:g.3238649C>T	ENSP00000217939:p.Asp1693Asn	Somatic		WXS	Illumina GAIIx	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.D1693N	ENST00000217939.6	37	c.5077	CCDS14124.1	X	.	.	.	.	.	.	.	.	.	.	C	0.036	-1.304538	0.01353	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.59083	0.29	3.07	0.12	0.14691	.	0.382752	0.18704	N	0.133509	T	0.22589	0.0545	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25363	-1.0134	10	0.07644	T	0.81	.	6.2847	0.21027	0.0:0.2139:0.0:0.7861	.	1693	Q9NR99	MXRA5_HUMAN	N	1693	ENSP00000217939:D1693N	ENSP00000217939:D1693N	D	-	1	0	MXRA5	3248649	0.002000	0.14202	0.001000	0.08648	0.185000	0.23345	0.502000	0.22594	-0.073000	0.12842	0.287000	0.19450	GAC	MXRA5	-	NULL	ENSG00000101825		0.418	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	HGNC	protein_coding	OTTHUMT00000055655.2	90	0.00	0	C	NM_015419		3238649	3238649	-1	no_errors	ENST00000217939	ensembl	human	known	69_37n	missense	78	35.54	43	SNP	0.003	T
MXRA5	25878	genome.wustl.edu	37	X	3240107	3240107	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:3240107C>T	ENST00000217939.6	-	5	3773	c.3619G>A	c.(3619-3621)Gat>Aat	p.D1207N		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1207						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)				ACTGTGTTATCCACCCAAGCT	0.453																																						dbGAP											0													125.0	118.0	120.0					X																	3240107		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.3619G>A	X.37:g.3240107C>T	ENSP00000217939:p.Asp1207Asn	Somatic		WXS	Illumina GAIIx	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.D1207N	ENST00000217939.6	37	c.3619	CCDS14124.1	X	.	.	.	.	.	.	.	.	.	.	c	5.455	0.269068	0.10349	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.66460	-0.21	2.81	1.93	0.25924	.	0.917151	0.08895	N	0.877981	T	0.45256	0.1333	N	0.17082	0.46	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.26677	-1.0096	10	0.21540	T	0.41	.	4.4215	0.11482	0.0:0.6448:0.0:0.3552	.	1207	Q9NR99	MXRA5_HUMAN	N	1207	ENSP00000217939:D1207N	ENSP00000217939:D1207N	D	-	1	0	MXRA5	3250107	0.003000	0.15002	0.000000	0.03702	0.001000	0.01503	1.273000	0.33121	0.313000	0.23062	0.425000	0.28330	GAT	MXRA5	-	NULL	ENSG00000101825		0.453	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	HGNC	protein_coding	OTTHUMT00000055655.2	141	0.00	0	C	NM_015419		3240107	3240107	-1	no_errors	ENST00000217939	ensembl	human	known	69_37n	missense	160	21.18	43	SNP	0.000	T
MYBBP1A	10514	genome.wustl.edu	37	17	4448189	4448189	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:4448189C>T	ENST00000254718.4	-	18	2644	c.2338G>A	c.(2338-2340)Gag>Aag	p.E780K	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.E780K			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	780	Glu-rich.				cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						TCCCCCAGCTCCTCCTCGTTC	0.657																																						dbGAP											0													54.0	49.0	50.0					17																	4448189		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"""p53-activated protein-2"""	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.2338G>A	17.37:g.4448189C>T	ENSP00000254718:p.Glu780Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Missense_Mutation	SNP	pfam_DNA_pol_V,superfamily_ARM-type_fold	p.E780K	ENST00000254718.4	37	c.2338	CCDS11046.1	17	.	.	.	.	.	.	.	.	.	.	c	18.82	3.706143	0.68615	.	.	ENSG00000132382	ENST00000381556;ENST00000254718	T;T	0.46063	0.88;0.88	4.73	4.73	0.59995	Armadillo-type fold (1);	0.287051	0.38605	N	0.001622	T	0.61887	0.2383	M	0.68952	2.095	0.53688	D	0.999977	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.983	T	0.64054	-0.6497	10	0.54805	T	0.06	-30.6447	14.8593	0.70366	0.0:1.0:0.0:0.0	.	780;780	Q9BQG0;Q9BQG0-2	MBB1A_HUMAN;.	K	780	ENSP00000370968:E780K;ENSP00000254718:E780K	ENSP00000254718:E780K	E	-	1	0	MYBBP1A	4394938	1.000000	0.71417	0.275000	0.24674	0.028000	0.11728	4.912000	0.63335	2.369000	0.80426	0.537000	0.68136	GAG	MYBBP1A	-	pfam_DNA_pol_V,superfamily_ARM-type_fold	ENSG00000132382		0.657	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYBBP1A	HGNC	protein_coding	OTTHUMT00000207488.2	31	0.00	0	C	NM_014520		4448189	4448189	-1	no_errors	ENST00000381556	ensembl	human	known	69_37n	missense	13	31.58	6	SNP	0.941	T
MYBBP1A	10514	genome.wustl.edu	37	17	4451590	4451590	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:4451590G>A	ENST00000254718.4	-	12	1878	c.1572C>T	c.(1570-1572)ctC>ctT	p.L524L	MYBBP1A_ENST00000381556.2_Silent_p.L524L			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	524	Interaction with MYB. {ECO:0000250}.				cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						ACTGCGTGCTGAGGGTCTGCA	0.642																																						dbGAP											0													63.0	62.0	62.0					17																	4451590		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"""p53-activated protein-2"""	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.1572C>T	17.37:g.4451590G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Nonsense_Mutation	SNP	pfam_DNA_pol_V,superfamily_ARM-type_fold	p.Q444*	ENST00000254718.4	37	c.1330	CCDS11046.1	17																																																																																			MYBBP1A	-	pfam_DNA_pol_V,superfamily_ARM-type_fold	ENSG00000132382		0.642	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYBBP1A	HGNC	protein_coding	OTTHUMT00000207488.2	26	0.00	0	G	NM_014520		4451590	4451590	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000573116	ensembl	human	known	69_37n	nonsense	18	30.77	8	SNP	0.987	A
MYBPC2	4606	genome.wustl.edu	37	19	50954172	50954172	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:50954172C>G	ENST00000357701.5	+	14	1610	c.1559C>G	c.(1558-1560)tCg>tGg	p.S520W		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	520	Ig-like C2-type 4.				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)		CTGTCGCTCTCGGCCAAGCTC	0.642																																						dbGAP											0													45.0	48.0	47.0					19																	50954172		2046	4175	6221	-	-	-	SO:0001583	missense	0				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.1559C>G	19.37:g.50954172C>G	ENSP00000350332:p.Ser520Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4G9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.S520W	ENST00000357701.5	37	c.1559	CCDS46152.1	19	.	.	.	.	.	.	.	.	.	.	c	16.50	3.140873	0.56936	.	.	ENSG00000086967	ENST00000357701	T	0.60548	0.18	3.17	3.17	0.36434	Immunoglobulin subtype (1);	0.000000	0.32518	U	0.005994	T	0.80623	0.4658	M	0.93978	3.48	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.86246	0.1646	10	0.87932	D	0	.	13.6384	0.62235	0.0:1.0:0.0:0.0	.	520	Q14324	MYPC2_HUMAN	W	520	ENSP00000350332:S520W	ENSP00000350332:S520W	S	+	2	0	MYBPC2	55645984	1.000000	0.71417	0.967000	0.41034	0.497000	0.33675	6.907000	0.75724	1.799000	0.52666	0.299000	0.19835	TCG	MYBPC2	-	smart_Ig_sub	ENSG00000086967		0.642	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYBPC2	HGNC	protein_coding	OTTHUMT00000464751.1	43	0.00	0	C	NM_004533		50954172	50954172	+1	no_errors	ENST00000357701	ensembl	human	known	69_37n	missense	40	14.89	7	SNP	0.997	G
MYBPC3	4607	genome.wustl.edu	37	11	47371455	47371455	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:47371455G>A	ENST00000545968.1	-	5	578	c.524C>T	c.(523-525)tCa>tTa	p.S175L	MYBPC3_ENST00000256993.4_Missense_Mutation_p.S175L|MYBPC3_ENST00000399249.2_Missense_Mutation_p.S175L	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	175	Ig-like C2-type 1.				cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		CACGCGGGCTGAGAAGGTGAT	0.672																																						dbGAP											0													24.0	30.0	28.0					11																	47371455		2067	4201	6268	-	-	-	SO:0001583	missense	0			X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7551	protein-coding gene	gene with protein product		600958	"""myosin-binding protein C, cardiac"""	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.524C>T	11.37:g.47371455G>A	ENSP00000442795:p.Ser175Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.S175L	ENST00000545968.1	37	c.524	CCDS53621.1	11	.	.	.	.	.	.	.	.	.	.	G	13.68	2.309896	0.40895	.	.	ENSG00000134571	ENST00000545968;ENST00000399249;ENST00000256993	T;T;T	0.68025	-0.3;-0.3;-0.3	4.8	4.8	0.61643	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.47838	0.1467	N	0.14661	0.345	0.38872	D	0.956729	B	0.18310	0.027	B	0.18561	0.022	T	0.45220	-0.9276	9	0.25106	T	0.35	.	11.7028	0.51581	0.0821:0.0:0.9179:0.0	.	175	Q14896	MYPC3_HUMAN	L	175	ENSP00000442795:S175L;ENSP00000382193:S175L;ENSP00000256993:S175L	ENSP00000256993:S175L	S	-	2	0	MYBPC3	47328031	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	5.066000	0.64351	2.385000	0.81259	0.462000	0.41574	TCA	MYBPC3	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like	ENSG00000134571		0.672	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYBPC3	HGNC	protein_coding	OTTHUMT00000392271.3	34	0.00	0	G			47371455	47371455	-1	no_errors	ENST00000399249	ensembl	human	known	69_37n	missense	46	22.03	13	SNP	1.000	A
MYBPHL	343263	genome.wustl.edu	37	1	109849538	109849538	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:109849538C>T	ENST00000357155.1	-	1	125	c.76G>A	c.(76-78)Gaa>Aaa	p.E26K	MYBPHL_ENST00000477962.1_5'UTR	NM_001010985.2|NM_001265613.1	NP_001010985.2|NP_001252542.1	A2RUH7	MBPHL_HUMAN	myosin binding protein H-like	26										central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		TGGGGTGGTTCAGCATCCGCT	0.662																																						dbGAP											0													43.0	45.0	44.0					1																	109849538		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK129834	CCDS30793.1	1p13	2013-02-11			ENSG00000221986	ENSG00000221986		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	30434	protein-coding gene	gene with protein product							Standard	NM_001010985		Approved		uc001dxk.1	A2RUH7	OTTHUMG00000012002	ENST00000357155.1:c.76G>A	1.37:g.109849538C>T	ENSP00000349678:p.Glu26Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZME5|Q5T2Z7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E26K	ENST00000357155.1	37	c.76	CCDS30793.1	1	.	.	.	.	.	.	.	.	.	.	C	6.067	0.380748	0.11466	.	.	ENSG00000221986	ENST00000357155	T	0.54866	0.55	4.45	2.54	0.30619	.	.	.	.	.	T	0.16428	0.0395	N	0.17082	0.46	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.25779	-1.0122	9	0.72032	D	0.01	.	7.2556	0.26175	0.0:0.7982:0.0:0.2018	.	26;26	B7ZME5;A2RUH7	.;MBPHL_HUMAN	K	26	ENSP00000349678:E26K	ENSP00000349678:E26K	E	-	1	0	MYBPHL	109651061	0.013000	0.17824	0.001000	0.08648	0.188000	0.23474	1.233000	0.32648	0.794000	0.33899	0.655000	0.94253	GAA	MYBPHL	-	NULL	ENSG00000221986		0.662	MYBPHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYBPHL	HGNC	protein_coding	OTTHUMT00000033197.1	26	0.00	0	C	NM_001010985		109849538	109849538	-1	no_errors	ENST00000357155	ensembl	human	known	69_37n	missense	16	27.27	6	SNP	0.001	T
MYCBP2	23077	genome.wustl.edu	37	13	77673021	77673021	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr13:77673021C>G	ENST00000544440.2	-	56	8171	c.8154G>C	c.(8152-8154)aaG>aaC	p.K2718N	MYCBP2_ENST00000357337.6_Missense_Mutation_p.K2718N|MYCBP2_ENST00000407578.2_Missense_Mutation_p.K2756N|MYCBP2_ENST00000360084.5_Missense_Mutation_p.K241N|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000482517.1_5'UTR					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CCCTTGGCTTCTTCTGATCAG	0.458																																						dbGAP											0													140.0	127.0	132.0					13																	77673021		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.8154G>C	13.37:g.77673021C>G	ENSP00000444596:p.Lys2718Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,prints_Reg_chr_condens,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens	p.K2756N	ENST00000544440.2	37	c.8268		13	.	.	.	.	.	.	.	.	.	.	C	6.606	0.480286	0.12581	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440;ENST00000360084	T;T;T;T	0.52295	1.58;1.58;1.58;0.67	5.57	4.73	0.59995	.	0.049114	0.85682	D	0.000000	T	0.46112	0.1376	N	0.24115	0.695	0.32610	N	0.524711	D;P;B	0.56521	0.976;0.557;0.099	P;B;B	0.54140	0.743;0.124;0.04	T	0.56080	-0.8038	10	0.32370	T	0.25	.	14.4094	0.67106	0.0:0.929:0.0:0.0709	.	104;2718;2718	Q9UG08;O75592-2;O75592	.;.;MYCB2_HUMAN	N	2718;2756;2718;241	ENSP00000349892:K2718N;ENSP00000384288:K2756N;ENSP00000444596:K2718N;ENSP00000353197:K241N	ENSP00000349892:K2718N	K	-	3	2	MYCBP2	76571022	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	2.984000	0.49353	1.369000	0.46134	-0.253000	0.11424	AAG	MYCBP2	-	superfamily_ARM-type_fold	ENSG00000005810		0.458	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2	HGNC	protein_coding	OTTHUMT00000045326.1	104	0.00	0	C	NM_015057		77673021	77673021	-1	no_errors	ENST00000407578	ensembl	human	known	69_37n	missense	92	32.86	46	SNP	1.000	G
MYCBP2	23077	genome.wustl.edu	37	13	77695616	77695616	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr13:77695616C>G	ENST00000544440.2	-	55	7935	c.7918G>C	c.(7918-7920)Gat>Cat	p.D2640H	MYCBP2_ENST00000357337.6_Missense_Mutation_p.D2640H|MYCBP2_ENST00000407578.2_Missense_Mutation_p.D2678H|MYCBP2_ENST00000360084.5_Missense_Mutation_p.D103H|MYCBP2_ENST00000482517.1_5'UTR					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GAATTCTGATCCAGAAGAGCT	0.388																																						dbGAP											0													80.0	80.0	80.0					13																	77695616		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.7918G>C	13.37:g.77695616C>G	ENSP00000444596:p.Asp2640His	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,prints_Reg_chr_condens,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens	p.D2678H	ENST00000544440.2	37	c.8032		13	.	.	.	.	.	.	.	.	.	.	C	25.1	4.601131	0.87055	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440;ENST00000360084	T;T;T;T	0.50277	1.55;1.55;1.55;0.75	5.61	5.61	0.85477	.	0.049506	0.85682	D	0.000000	T	0.52741	0.1753	N	0.22421	0.69	0.58432	D	0.999996	P;P	0.52061	0.95;0.856	P;P	0.55999	0.789;0.674	T	0.56481	-0.7972	10	0.72032	D	0.01	.	19.6505	0.95798	0.0:1.0:0.0:0.0	.	2640;2640	O75592-2;O75592	.;MYCB2_HUMAN	H	2640;2678;2640;103	ENSP00000349892:D2640H;ENSP00000384288:D2678H;ENSP00000444596:D2640H;ENSP00000353197:D103H	ENSP00000349892:D2640H	D	-	1	0	MYCBP2	76593617	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.454000	0.80714	2.635000	0.89317	0.563000	0.77884	GAT	MYCBP2	-	superfamily_ARM-type_fold	ENSG00000005810		0.388	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2	HGNC	protein_coding	OTTHUMT00000045326.1	61	0.00	0	C	NM_015057		77695616	77695616	-1	no_errors	ENST00000407578	ensembl	human	known	69_37n	missense	83	19.42	20	SNP	1.000	G
MYCBP2	23077	genome.wustl.edu	37	13	77764443	77764443	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr13:77764443C>G	ENST00000544440.2	-	29	4001	c.3984G>C	c.(3982-3984)aaG>aaC	p.K1328N	MYCBP2_ENST00000357337.6_Missense_Mutation_p.K1328N|MYCBP2_ENST00000407578.2_Missense_Mutation_p.K1366N|MYCBP2_ENST00000360084.5_5'UTR					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TATTTGATTTCTTTGAACTCT	0.289																																						dbGAP											0													87.0	87.0	87.0					13																	77764443		2203	4291	6494	-	-	-	SO:0001583	missense	0			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.3984G>C	13.37:g.77764443C>G	ENSP00000444596:p.Lys1328Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,prints_Reg_chr_condens,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens	p.K1366N	ENST00000544440.2	37	c.4098		13	.	.	.	.	.	.	.	.	.	.	C	22.8	4.337538	0.81911	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.32023	1.47;1.47;1.47	5.42	5.42	0.78866	PHR (1);	0.000000	0.85682	D	0.000000	T	0.56262	0.1973	M	0.65975	2.015	0.58432	D	0.999995	D	0.61697	0.99	D	0.75020	0.985	T	0.57136	-0.7863	10	0.72032	D	0.01	.	19.1728	0.93585	0.0:1.0:0.0:0.0	.	1328	O75592	MYCB2_HUMAN	N	1328;1366;1328	ENSP00000349892:K1328N;ENSP00000384288:K1366N;ENSP00000444596:K1328N	ENSP00000349892:K1328N	K	-	3	2	MYCBP2	76662444	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.465000	0.66725	2.704000	0.92352	0.467000	0.42956	AAG	MYCBP2	-	pfam_PHR,superfamily_ARM-type_fold	ENSG00000005810		0.289	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2	HGNC	protein_coding	OTTHUMT00000045326.1	138	0.00	0	C	NM_015057		77764443	77764443	-1	no_errors	ENST00000407578	ensembl	human	known	69_37n	missense	106	25.35	36	SNP	1.000	G
MYCBPAP	84073	genome.wustl.edu	37	17	48603379	48603379	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:48603379G>A	ENST00000323776.5	+	14	2211	c.2049G>A	c.(2047-2049)gtG>gtA	p.V683V	MYCBPAP_ENST00000436259.2_Silent_p.V646V	NM_032133.4	NP_115509.4			MYCBP associated protein											breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			AGGCCTCTGTGAATGCTGAGC	0.622																																						dbGAP											0													95.0	72.0	80.0					17																	48603379		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC028393	CCDS32680.2	17q21.33	2004-02-19			ENSG00000136449	ENSG00000136449			19677	protein-coding gene	gene with protein product		609835				12151104	Standard	NM_032133		Approved	AMAP-1, DKFZp434N1415	uc010wmr.2	Q8TBZ2	OTTHUMG00000157184	ENST00000323776.5:c.2049G>A	17.37:g.48603379G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.E16K	ENST00000323776.5	37	c.46	CCDS32680.2	17																																																																																			MYCBPAP	-	NULL	ENSG00000136449		0.622	MYCBPAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYCBPAP	HGNC	protein_coding	OTTHUMT00000347814.1	19	0.00	0	G	NM_032133		48603379	48603379	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000485169	ensembl	human	known	69_37n	missense	76	16.48	15	SNP	0.000	A
MYEOV2	150678	genome.wustl.edu	37	2	241070506	241070506	+	Splice_Site	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:241070506C>G	ENST00000607357.1	-	3	155		c.e3-1		MYEOV2_ENST00000307266.3_Splice_Site|MYEOV2_ENST00000489698.1_Splice_Site	NM_001163424.1	NP_001156896.1	Q8WXC6	MYOV2_HUMAN	myeloma overexpressed 2											breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		TCTTCAAAATCTAGGGAAATA	0.453																																						dbGAP											0													54.0	50.0	51.0					2																	241070506		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF453951	CCDS2532.1, CCDS63183.1	2q37.3	2008-02-05			ENSG00000172428	ENSG00000172428			21314	protein-coding gene	gene with protein product							Standard	NM_138336		Approved		uc002vyu.1	Q8WXC6	OTTHUMG00000133352	ENST00000607357.1:c.137-1G>C	2.37:g.241070506C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N110	Splice_Site	SNP	-	e3-1	ENST00000607357.1	37	c.230-1		2	.	.	.	.	.	.	.	.	.	.	C	12.01	1.809498	0.31961	.	.	ENSG00000172428	ENST00000307266;ENST00000403160	.	.	.	4.03	4.03	0.46877	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4764	0.67548	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYEOV2	240719179	1.000000	0.71417	0.989000	0.46669	0.432000	0.31715	4.937000	0.63513	2.172000	0.68678	0.655000	0.94253	.	MYEOV2	-	-	ENSG00000172428		0.453	MYEOV2-005	NOVEL	basic|appris_principal	protein_coding	MYEOV2	HGNC	protein_coding	OTTHUMT00000470698.1	38	0.00	0	C	NM_138336	Intron	241070506	241070506	-1	no_errors	ENST00000307266	ensembl	human	known	69_37n	splice_site	33	23.26	10	SNP	1.000	G
MYH1	4619	genome.wustl.edu	37	17	10399350	10399350	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:10399350G>C	ENST00000226207.5	-	35	5180	c.5086C>G	c.(5086-5088)Ctg>Gtg	p.L1696V	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1696					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GTCTGTTCCAGAGTGGCCCGC	0.577																																						dbGAP											0													92.0	84.0	86.0					17																	10399350		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.5086C>G	17.37:g.10399350G>C	ENSP00000226207:p.Leu1696Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CA4|Q9Y622	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,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.L1696V	ENST00000226207.5	37	c.5086	CCDS11155.1	17	.	.	.	.	.	.	.	.	.	.	G	17.20	3.327741	0.60743	.	.	ENSG00000109061	ENST00000226207	D	0.81579	-1.51	5.53	5.53	0.82687	Myosin tail (1);	0.000000	0.34046	U	0.004314	D	0.86066	0.5844	M	0.79693	2.465	0.51482	D	0.99992	P	0.36633	0.562	B	0.43916	0.436	D	0.85133	0.0976	10	0.42905	T	0.14	.	19.8241	0.96610	0.0:0.0:1.0:0.0	.	1696	P12882	MYH1_HUMAN	V	1696	ENSP00000226207:L1696V	ENSP00000226207:L1696V	L	-	1	2	MYH1	10340075	0.994000	0.37717	0.982000	0.44146	0.985000	0.73830	2.143000	0.42187	2.758000	0.94735	0.655000	0.94253	CTG	MYH1	-	pfam_Myosin_tail	ENSG00000109061		0.577	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH1	HGNC	protein_coding	OTTHUMT00000252725.1	154	0.00	0	G	NM_005963		10399350	10399350	-1	no_errors	ENST00000226207	ensembl	human	known	69_37n	missense	121	20.39	31	SNP	1.000	C
MYH10	4628	genome.wustl.edu	37	17	8395802	8395802	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:8395802G>C	ENST00000269243.4	-	32	4529	c.4391C>G	c.(4390-4392)tCt>tGt	p.S1464C	MYH10_ENST00000360416.3_Missense_Mutation_p.S1495C|MYH10_ENST00000396239.1_Missense_Mutation_p.S1485C|MYH10_ENST00000379980.4_Missense_Mutation_p.S1480C	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1464					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						ATAGCGAGCAGAGATGCTCTT	0.567																																						dbGAP											0													34.0	38.0	37.0					17																	8395802		2203	4300	6503	-	-	-	SO:0001583	missense	0			M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.4391C>G	17.37:g.8395802G>C	ENSP00000269243:p.Ser1464Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.S1485C	ENST00000269243.4	37	c.4454	CCDS11144.1	17	.	.	.	.	.	.	.	.	.	.	G	31	5.058795	0.93846	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17	5.5	5.5	0.81552	Myosin tail (1);	0.000000	0.85682	D	0.000000	D	0.86594	0.5970	L	0.58302	1.8	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.79108	0.992;0.981;0.992	D	0.85565	0.1230	10	0.49607	T	0.09	.	19.5916	0.95514	0.0:0.0:1.0:0.0	.	1473;1495;1464	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	C	1464;1495;1485;1480	ENSP00000269243:S1464C;ENSP00000353590:S1495C;ENSP00000379539:S1485C;ENSP00000369315:S1480C	ENSP00000269243:S1464C	S	-	2	0	MYH10	8336527	1.000000	0.71417	0.997000	0.53966	0.955000	0.61496	9.601000	0.98297	2.861000	0.98227	0.655000	0.94253	TCT	MYH10	-	pfam_Myosin_tail	ENSG00000133026		0.567	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH10	HGNC	protein_coding	OTTHUMT00000227001.2	42	0.00	0	G			8395802	8395802	-1	no_errors	ENST00000396239	ensembl	human	known	69_37n	missense	36	16.28	7	SNP	1.000	C
MYH13	8735	genome.wustl.edu	37	17	10209931	10209931	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:10209931C>G	ENST00000418404.3	-	36	5474	c.5311G>C	c.(5311-5313)Gag>Cag	p.E1771Q	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.E1771Q			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1771					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TTTAGCTCCTCAGCCATCATG	0.582																																						dbGAP											0													85.0	82.0	83.0					17																	10209931		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.5311G>C	17.37:g.10209931C>G	ENSP00000404570:p.Glu1771Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O95252|Q9P0U8	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS	p.E1771Q	ENST00000418404.3	37	c.5311	CCDS45613.1	17	.	.	.	.	.	.	.	.	.	.	C	21.2	4.113698	0.77210	.	.	ENSG00000006788	ENST00000252172	T	0.80909	-1.43	4.35	3.38	0.38709	Myosin tail (1);	.	.	.	.	D	0.92351	0.7573	H	0.97635	4.045	0.38984	D	0.959013	D	0.62365	0.991	D	0.68039	0.955	D	0.94763	0.7938	9	0.87932	D	0	.	12.7831	0.57489	0.0:0.92:0.0:0.08	.	1771	Q9UKX3	MYH13_HUMAN	Q	1771	ENSP00000252172:E1771Q	ENSP00000252172:E1771Q	E	-	1	0	MYH13	10150656	1.000000	0.71417	0.839000	0.33178	0.979000	0.70002	7.615000	0.83006	1.183000	0.42943	0.591000	0.81541	GAG	MYH13	-	pfam_Myosin_tail	ENSG00000006788		0.582	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYH13	HGNC	protein_coding	OTTHUMT00000442255.1	141	0.00	0	C	NM_003802		10209931	10209931	-1	no_errors	ENST00000252172	ensembl	human	known	69_37n	missense	107	22.30	31	SNP	0.998	G
MYH1	4619	genome.wustl.edu	37	17	10409217	10409217	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:10409217G>A	ENST00000226207.5	-	19	2180	c.2086C>T	c.(2086-2088)Cag>Tag	p.Q696*	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	696	Myosin motor.				muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CACCTCAGCTGATGCAGGACA	0.483																																						dbGAP											0													90.0	76.0	81.0					17																	10409217		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.2086C>T	17.37:g.10409217G>A	ENSP00000226207:p.Gln696*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CA4|Q9Y622	Nonsense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,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.Q696*	ENST00000226207.5	37	c.2086	CCDS11155.1	17	.	.	.	.	.	.	.	.	.	.	G	39	7.728896	0.98456	.	.	ENSG00000109061	ENST00000226207	.	.	.	5.47	5.47	0.80525	.	0.000000	0.41194	U	0.000936	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.6961	0.96026	0.0:0.0:1.0:0.0	.	.	.	.	X	696	.	ENSP00000226207:Q696X	Q	-	1	0	MYH1	10349942	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.596000	0.98267	2.745000	0.94114	0.650000	0.86243	CAG	MYH1	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000109061		0.483	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH1	HGNC	protein_coding	OTTHUMT00000252725.1	104	0.00	0	G	NM_005963		10409217	10409217	-1	no_errors	ENST00000226207	ensembl	human	known	69_37n	nonsense	98	20.33	25	SNP	1.000	A
MYH14	79784	genome.wustl.edu	37	19	50783297	50783297	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:50783297G>A	ENST00000596571.1	+	28	3913	c.3913G>A	c.(3913-3915)Gaa>Aaa	p.E1305K	MYH14_ENST00000601313.1_Missense_Mutation_p.E1346K|MYH14_ENST00000598205.1_Missense_Mutation_p.E1313K|MYH14_ENST00000425460.1_Missense_Mutation_p.E1313K|MYH14_ENST00000262269.8_Missense_Mutation_p.E1346K|MYH14_ENST00000440075.2_Missense_Mutation_p.E1346K|MYH14_ENST00000376970.2_Missense_Mutation_p.E1338K			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1305					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CCTGCAGGCTGAACTGGAGAA	0.572																																						dbGAP											0													53.0	59.0	57.0					19																	50783297		2162	4236	6398	-	-	-	SO:0001583	missense	0			AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.3913G>A	19.37:g.50783297G>A	ENSP00000472819:p.Glu1305Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E1346K	ENST00000596571.1	37	c.4036	CCDS59411.1	19	.	.	.	.	.	.	.	.	.	.	G	20.8	4.050686	0.75960	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	D;D;D;D	0.90504	-2.68;-2.68;-2.68;-2.68	3.38	3.38	0.38709	Myosin tail (1);	.	.	.	.	D	0.94512	0.8233	M	0.77616	2.38	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.992;0.996;0.992	D	0.94871	0.8030	9	0.87932	D	0	.	12.6516	0.56764	0.0:0.0:1.0:0.0	.	1346;1305;1313	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	K	1305;1346;1338;1313;1305;1346	ENSP00000406273:E1346K;ENSP00000366169:E1338K;ENSP00000407879:E1313K;ENSP00000262269:E1346K	ENSP00000262269:E1346K	E	+	1	0	MYH14	55475109	1.000000	0.71417	0.911000	0.35937	0.555000	0.35460	9.117000	0.94347	1.922000	0.55676	0.455000	0.32223	GAA	MYH14	-	pfam_Myosin_tail	ENSG00000105357		0.572	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYH14	HGNC	protein_coding	OTTHUMT00000464710.2	62	0.00	0	G	NM_024729		50783297	50783297	+1	no_errors	ENST00000262269	ensembl	human	known	69_37n	missense	48	34.25	25	SNP	0.998	A
MYH15	22989	genome.wustl.edu	37	3	108133089	108133089	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:108133089C>G	ENST00000273353.3	-	31	4251	c.4195G>C	c.(4195-4197)Gag>Cag	p.E1399Q		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1399						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TTGGCATCCTCCAAGTCTTCT	0.463																																						dbGAP											0													155.0	150.0	152.0					3																	108133089		1972	4160	6132	-	-	-	SO:0001583	missense	0			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.4195G>C	3.37:g.108133089C>G	ENSP00000273353:p.Glu1399Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.E1399Q	ENST00000273353.3	37	c.4195	CCDS43127.1	3	.	.	.	.	.	.	.	.	.	.	C	19.99	3.929212	0.73327	.	.	ENSG00000144821	ENST00000273353	D	0.85955	-2.05	5.17	3.33	0.38152	Myosin tail (1);	.	.	.	.	D	0.92247	0.7541	M	0.88512	2.96	0.48395	D	0.999648	D	0.76494	0.999	D	0.73708	0.981	D	0.92019	0.5624	9	0.87932	D	0	.	10.6581	0.45686	0.0:0.7945:0.133:0.0725	.	1399	Q9Y2K3	MYH15_HUMAN	Q	1399	ENSP00000273353:E1399Q	ENSP00000273353:E1399Q	E	-	1	0	MYH15	109615779	1.000000	0.71417	0.206000	0.23566	0.917000	0.54804	3.191000	0.50981	0.640000	0.30582	0.655000	0.94253	GAG	MYH15	-	pfam_Myosin_tail,superfamily_Lambda_DNA-bd_dom	ENSG00000144821		0.463	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH15	HGNC	protein_coding	OTTHUMT00000353935.1	148	0.00	0	C	XM_036988		108133089	108133089	-1	no_errors	ENST00000273353	ensembl	human	known	69_37n	missense	159	22.06	45	SNP	1.000	G
MYH15	22989	genome.wustl.edu	37	3	108178212	108178212	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:108178212G>A	ENST00000273353.3	-	19	2133	c.2077C>T	c.(2077-2079)Cca>Tca	p.P693S	MYH15_ENST00000495753.2_5'UTR	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	693	Myosin motor.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TTCTTACCTGGTATTTTGTTC	0.294																																						dbGAP											0													106.0	97.0	100.0					3																	108178212		1812	4074	5886	-	-	-	SO:0001583	missense	0			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.2077C>T	3.37:g.108178212G>A	ENSP00000273353:p.Pro693Ser	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.P693S	ENST00000273353.3	37	c.2077	CCDS43127.1	3	.	.	.	.	.	.	.	.	.	.	G	14.96	2.691264	0.48097	.	.	ENSG00000144821	ENST00000273353	T	0.73789	-0.78	5.76	1.91	0.25777	Myosin head, motor domain (2);	.	.	.	.	D	0.83608	0.5291	M	0.80422	2.495	0.43061	D	0.994684	D	0.89917	1.0	D	0.97110	1.0	T	0.80730	-0.1252	9	0.52906	T	0.07	.	8.2734	0.31857	0.187:0.1114:0.7015:0.0	.	693	Q9Y2K3	MYH15_HUMAN	S	693	ENSP00000273353:P693S	ENSP00000273353:P693S	P	-	1	0	MYH15	109660902	1.000000	0.71417	0.058000	0.19502	0.278000	0.26855	3.984000	0.56923	0.066000	0.16515	0.655000	0.94253	CCA	MYH15	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000144821		0.294	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH15	HGNC	protein_coding	OTTHUMT00000353935.1	129	0.00	0	G	XM_036988		108178212	108178212	-1	no_errors	ENST00000273353	ensembl	human	known	69_37n	missense	128	19.50	31	SNP	0.987	A
MYH7	4625	genome.wustl.edu	37	14	23884290	23884290	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:23884290C>G	ENST00000355349.3	-	37	5635	c.5473G>C	c.(5473-5475)Gag>Cag	p.E1825Q	MIR208B_ENST00000401172.1_RNA|CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1825					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GCCTCCAGCTCATTCTCCAGC	0.657																																						dbGAP											0													103.0	100.0	101.0					14																	23884290		2203	4300	6503	-	-	-	SO:0001583	missense	0			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.5473G>C	14.37:g.23884290C>G	ENSP00000347507:p.Glu1825Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E1825Q	ENST00000355349.3	37	c.5473	CCDS9601.1	14	.	.	.	.	.	.	.	.	.	.	C	24.5	4.540403	0.85917	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	T	0.79653	-1.29	5.27	5.27	0.74061	Myosin tail (1);	.	.	.	.	D	0.90116	0.6912	M	0.78344	2.41	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.90709	0.4626	9	0.72032	D	0.01	.	19.075	0.93158	0.0:1.0:0.0:0.0	.	1825	P12883	MYH7_HUMAN	Q	1825;1830	ENSP00000347507:E1825Q	ENSP00000347507:E1825Q	E	-	1	0	MYH7	22954130	1.000000	0.71417	0.989000	0.46669	0.885000	0.51271	5.775000	0.68915	2.750000	0.94351	0.563000	0.77884	GAG	MYH7	-	pfam_Myosin_tail	ENSG00000092054		0.657	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH7	HGNC	protein_coding	OTTHUMT00000071798.3	104	0.00	0	C	NM_000257		23884290	23884290	-1	no_errors	ENST00000355349	ensembl	human	known	69_37n	missense	74	19.57	18	SNP	1.000	G
MYH7	4625	genome.wustl.edu	37	14	23887429	23887429	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:23887429C>T	ENST00000355349.3	-	30	4321	c.4159G>A	c.(4159-4161)Gag>Aag	p.E1387K	MIR208B_ENST00000401172.1_RNA|CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1387					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TTGGCCTCCTCGAGCTCCTCA	0.632																																						dbGAP											0													83.0	83.0	83.0					14																	23887429		2203	4300	6503	-	-	-	SO:0001583	missense	0			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4159G>A	14.37:g.23887429C>T	ENSP00000347507:p.Glu1387Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E1387K	ENST00000355349.3	37	c.4159	CCDS9601.1	14	.	.	.	.	.	.	.	.	.	.	C	33	5.198769	0.94997	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.85861	-2.04	4.83	4.83	0.62350	Myosin tail (1);	.	.	.	.	D	0.95567	0.8559	H	0.97983	4.12	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97358	0.9968	9	0.87932	D	0	.	18.1069	0.89523	0.0:1.0:0.0:0.0	.	1387	P12883	MYH7_HUMAN	K	1387;1392	ENSP00000347507:E1387K	ENSP00000347507:E1387K	E	-	1	0	MYH7	22957269	1.000000	0.71417	0.987000	0.45799	0.813000	0.45954	7.364000	0.79526	2.520000	0.84964	0.655000	0.94253	GAG	MYH7	-	pfam_Myosin_tail,superfamily_Prefoldin	ENSG00000092054		0.632	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH7	HGNC	protein_coding	OTTHUMT00000071798.3	71	0.00	0	C	NM_000257		23887429	23887429	-1	no_errors	ENST00000355349	ensembl	human	known	69_37n	missense	43	28.33	17	SNP	1.000	T
MYH7B	57644	genome.wustl.edu	37	20	33584527	33584527	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:33584527C>G	ENST00000262873.7	+	28	3450	c.3358C>G	c.(3358-3360)Caa>Gaa	p.Q1120E		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1078						membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TGATGCTGCTCAAGACAAGCA	0.622																																						dbGAP											0													31.0	35.0	34.0					20																	33584527		2197	4299	6496	-	-	-	SO:0001583	missense	0			AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.3358C>G	20.37:g.33584527C>G	ENSP00000262873:p.Gln1120Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.Q1120E	ENST00000262873.7	37	c.3358	CCDS42869.1	20	.	.	.	.	.	.	.	.	.	.	C	11.23	1.576037	0.28092	.	.	ENSG00000078814	ENST00000262873	T	0.80994	-1.44	4.4	3.43	0.39272	Myosin tail (1);	0.482992	0.15498	N	0.259181	T	0.67011	0.2848	N	0.24115	0.695	0.29250	N	0.872068	B	0.12013	0.005	B	0.01281	0.0	T	0.62950	-0.6745	10	0.72032	D	0.01	.	7.5884	0.28006	0.3284:0.5384:0.1332:0.0	.	1078	A7E2Y1	MYH7B_HUMAN	E	1120	ENSP00000262873:Q1120E	ENSP00000262873:Q1120E	Q	+	1	0	MYH7B	33048188	1.000000	0.71417	0.808000	0.32385	0.253000	0.25986	4.498000	0.60373	1.174000	0.42811	0.561000	0.74099	CAA	MYH7B	-	pfam_Myosin_tail	ENSG00000078814		0.622	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH7B	HGNC	protein_coding	OTTHUMT00000078833.2	24	0.00	0	C	NM_020884		33584527	33584527	+1	no_errors	ENST00000262873	ensembl	human	novel	69_37n	missense	29	21.62	8	SNP	0.997	G
MYH7B	57644	genome.wustl.edu	37	20	33587190	33587190	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:33587190G>A	ENST00000262873.7	+	34	4740	c.4648G>A	c.(4648-4650)Gag>Aag	p.E1550K		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1508						membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GCTCAAGCGGGAGAACAAGAA	0.682																																						dbGAP											0													12.0	18.0	16.0					20																	33587190		2041	4201	6242	-	-	-	SO:0001583	missense	0			AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.4648G>A	20.37:g.33587190G>A	ENSP00000262873:p.Glu1550Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E1550K	ENST00000262873.7	37	c.4648	CCDS42869.1	20	.	.	.	.	.	.	.	.	.	.	G	27.8	4.867883	0.91587	.	.	ENSG00000078814	ENST00000262873	D	0.82803	-1.65	4.19	4.19	0.49359	Myosin tail (1);	.	.	.	.	D	0.93710	0.7990	H	0.95079	3.62	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.95718	0.8764	9	0.87932	D	0	.	17.0859	0.86611	0.0:0.0:1.0:0.0	.	1508	A7E2Y1	MYH7B_HUMAN	K	1550	ENSP00000262873:E1550K	ENSP00000262873:E1550K	E	+	1	0	MYH7B	33050851	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.597000	0.98273	2.326000	0.78906	0.561000	0.74099	GAG	MYH7B	-	pfam_Myosin_tail,superfamily_t-SNARE	ENSG00000078814		0.682	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH7B	HGNC	protein_coding	OTTHUMT00000078833.2	31	0.00	0	G	NM_020884		33587190	33587190	+1	no_errors	ENST00000262873	ensembl	human	novel	69_37n	missense	40	29.82	17	SNP	1.000	A
MYH9	4627	genome.wustl.edu	37	22	36691695	36691695	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:36691695G>C	ENST00000216181.5	-	26	3571	c.3341C>G	c.(3340-3342)tCt>tGt	p.S1114C		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1114			S -> P (in APSM). {ECO:0000269|PubMed:11590545}.		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						CTGGAGTTCAGAGATCTGAGA	0.522			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													dbGAP		Dom	yes		22	22q13.1	4627	"""myosin, heavy polypeptide 9, non-muscle"""	yes	L	0													49.0	47.0	48.0					22																	36691695		2203	4300	6503	-	-	-	SO:0001583	missense	0	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.3341C>G	22.37:g.36691695G>C	ENSP00000216181:p.Ser1114Cys	Somatic		WXS	Illumina GAIIx	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,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS	p.S1114C	ENST00000216181.5	37	c.3341	CCDS13927.1	22	.	.	.	.	.	.	.	.	.	.	G	15.40	2.823137	0.50739	.	.	ENSG00000100345	ENST00000216181	D	0.83755	-1.76	4.71	4.71	0.59529	Myosin tail (1);	0.362802	0.28865	N	0.013887	D	0.89646	0.6775	M	0.83012	2.62	0.46749	D	0.999181	P	0.36315	0.547	P	0.51657	0.676	D	0.90887	0.4758	10	0.87932	D	0	.	13.7464	0.62879	0.0:0.1541:0.8459:0.0	.	1114	P35579	MYH9_HUMAN	C	1114	ENSP00000216181:S1114C	ENSP00000216181:S1114C	S	-	2	0	MYH9	35021641	0.999000	0.42202	0.832000	0.32986	0.617000	0.37484	3.700000	0.54786	2.339000	0.79563	0.561000	0.74099	TCT	MYH9	-	pfam_Myosin_tail	ENSG00000100345		0.522	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH9	HGNC	protein_coding	OTTHUMT00000259110.3	47	0.00	0	G	NM_002473		36691695	36691695	-1	no_errors	ENST00000216181	ensembl	human	known	69_37n	missense	68	31.31	31	SNP	0.363	C
MYL7	58498	genome.wustl.edu	37	7	44180338	44180338	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:44180338C>T	ENST00000223364.3	-	3	192	c.166G>A	c.(166-168)Gac>Aac	p.D56N	MYL7_ENST00000458240.1_Missense_Mutation_p.D29N|MYL7_ENST00000434895.1_5'UTR	NM_021223.2	NP_067046.1	Q01449	MLRA_HUMAN	myosin, light chain 7, regulatory	56	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					A band (GO:0031672)|dendritic spine (GO:0043197)|myosin complex (GO:0016459)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	12						TCCCTCAGGTCTGCCTTGCAG	0.647																																						dbGAP											0													55.0	45.0	48.0					7																	44180338		2203	4300	6503	-	-	-	SO:0001583	missense	0			M94547	CCDS5478.1	7p21-p11.2	2013-01-10	2006-09-29		ENSG00000106631	ENSG00000106631		"""Myosins / Light chain"", ""EF-hand domain containing"""	21719	protein-coding gene	gene with protein product		613993	"""myosin, light polypeptide 7, regulatory"""			8207020	Standard	NM_021223		Approved	MYLC2A, MYL2A	uc003tkg.3	Q01449	OTTHUMG00000023125	ENST00000223364.3:c.166G>A	7.37:g.44180338C>T	ENSP00000223364:p.Asp56Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R4L3	Missense_Mutation	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.D56N	ENST00000223364.3	37	c.166	CCDS5478.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.142456|5.142456	0.94560|0.94560	.|.	.|.	ENSG00000106631|ENSG00000106631	ENST00000223364;ENST00000458240;ENST00000457314;ENST00000447951|ENST00000431007	T;T;T;T|.	0.75367|.	-0.93;-0.93;-0.93;0.94|.	4.74|4.74	4.74|4.74	0.60224|0.60224	EF-hand-like domain (1);|.	0.050434|.	0.85682|.	D|.	0.000000|.	D|D	0.83216|0.83216	0.5206|0.5206	M|M	0.89214|0.89214	3.015|3.015	0.80722|0.80722	D|D	1|1	D|.	0.67145|.	0.996|.	D|.	0.67231|.	0.95|.	D|D	0.86699|0.86699	0.1928|0.1928	10|5	0.87932|.	D|.	0|.	.|.	16.4739|16.4739	0.84127|0.84127	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	56|.	Q01449|.	MLRA_HUMAN|.	N|K	56;29;78;55|68	ENSP00000223364:D56N;ENSP00000403360:D29N;ENSP00000389202:D78N;ENSP00000403988:D55N|.	ENSP00000223364:D56N|.	D|R	-|-	1|2	0|0	MYL7|MYL7	44146863|44146863	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.968000|0.968000	0.65278|0.65278	5.375000|5.375000	0.66173|0.66173	2.195000|2.195000	0.70347|0.70347	0.643000|0.643000	0.83706|0.83706	GAC|AGA	MYL7	-	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	ENSG00000106631		0.647	MYL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYL7	HGNC	protein_coding	OTTHUMT00000059446.4	16	0.00	0	C	NM_021223		44180338	44180338	-1	no_errors	ENST00000223364	ensembl	human	known	69_37n	missense	18	53.85	21	SNP	0.999	T
MYLK	4638	genome.wustl.edu	37	3	123337576	123337576	+	Missense_Mutation	SNP	T	T	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:123337576T>C	ENST00000475616.1	-	30	5409	c.5410A>G	c.(5410-5412)Aag>Gag	p.K1804E	MYLK_ENST00000359169.1_Missense_Mutation_p.K1753E|MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000360304.3_Missense_Mutation_p.K1804E|MYLK-AS1_ENST00000470449.1_RNA|MYLK_ENST00000578202.1_Missense_Mutation_p.K43E|MYLK_ENST00000346322.5_Missense_Mutation_p.K1735E|MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000354792.5_Missense_Mutation_p.K604E|MYLK_ENST00000583087.1_Missense_Mutation_p.K44E|MYLK_ENST00000418370.2_Missense_Mutation_p.K44E|MYLK_ENST00000360772.3_Missense_Mutation_p.K1753E			Q15746	MYLK_HUMAN	myosin light chain kinase	1804					actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		ACATGAGGCTTTTCCTCAGCA	0.448																																						dbGAP											0													122.0	121.0	121.0					3																	123337576		2203	4300	6503	-	-	-	SO:0001583	missense	0			X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.5410A>G	3.37:g.123337576T>C	ENSP00000418335:p.Lys1804Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,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.K1804E	ENST00000475616.1	37	c.5410	CCDS46896.1	3	.	.	.	.	.	.	.	.	.	.	T	31	5.063100	0.93898	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000418370;ENST00000346322;ENST00000354792;ENST00000475616	T;T;T;T;T;T;T	0.67171	-0.25;-0.22;-0.25;0.16;-0.23;0.04;-0.22	5.37	5.37	0.77165	.	.	.	.	.	T	0.72930	0.3522	L	0.38175	1.15	0.42626	D	0.99336	D;D;P;D;P;B	0.58970	0.968;0.965;0.933;0.984;0.945;0.303	P;P;P;D;P;B	0.65684	0.854;0.893;0.712;0.937;0.718;0.017	T	0.74990	-0.3475	9	0.54805	T	0.06	.	14.1107	0.65120	0.0:0.0:0.0:1.0	.	1803;1684;1753;1735;1804;116	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746;Q05D81	.;.;.;.;MYLK_HUMAN;.	E	1753;1804;1753;44;1735;604;1804	ENSP00000354004:K1753E;ENSP00000353452:K1804E;ENSP00000352088:K1753E;ENSP00000428967:K44E;ENSP00000320622:K1735E;ENSP00000346846:K604E;ENSP00000418335:K1804E	ENSP00000320622:K1735E	K	-	1	0	MYLK	124820266	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	4.116000	0.57871	2.251000	0.74343	0.528000	0.53228	AAG	MYLK	-	NULL	ENSG00000065534		0.448	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYLK	HGNC	protein_coding	OTTHUMT00000356464.1	102	0.00	0	T	NM_053025		123337576	123337576	-1	no_errors	ENST00000360304	ensembl	human	known	69_37n	missense	106	17.19	22	SNP	1.000	C
MYLK2	85366	genome.wustl.edu	37	20	30414464	30414464	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:30414464C>T	ENST00000375994.2	+	6	1302	c.1029C>T	c.(1027-1029)atC>atT	p.I343I	MYLK2_ENST00000375985.4_Silent_p.I343I			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	343	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|neuromuscular synaptic transmission (GO:0007274)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of gene expression (GO:0010628)|protein autophosphorylation (GO:0046777)|regulation of muscle filament sliding (GO:0032971)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle satellite cell differentiation (GO:0014816)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GCAATCTGATCCAGCTGTATG	0.567																																						dbGAP											0													128.0	100.0	109.0					20																	30414464		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF325549	CCDS13191.1	20q13.31	2014-09-17	2008-01-23		ENSG00000101306	ENSG00000101306	2.7.11.18		16243	protein-coding gene	gene with protein product	"""skeletal muscle myosin light chain kinase"""	606566	"""myosin light chain kinase 2, skeletal muscle"""				Standard	NM_033118		Approved	skMLCK, KMLC, MLCK2	uc002wwq.2	Q9H1R3	OTTHUMG00000032194	ENST00000375994.2:c.1029C>T	20.37:g.30414464C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q569L1|Q96I84	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.I343	ENST00000375994.2	37	c.1029	CCDS13191.1	20																																																																																			MYLK2	-	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	ENSG00000101306		0.567	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MYLK2	HGNC	protein_coding	OTTHUMT00000078583.2	80	0.00	0	C	NM_033118		30414464	30414464	+1	no_errors	ENST00000375985	ensembl	human	known	69_37n	silent	97	19.17	23	SNP	1.000	T
MYNN	55892	genome.wustl.edu	37	3	169501318	169501318	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:169501318G>C	ENST00000349841.5	+	6	2116	c.1453G>C	c.(1453-1455)Gag>Cag	p.E485Q	MYNN_ENST00000544106.1_Missense_Mutation_p.E485Q|MYNN_ENST00000392733.1_Missense_Mutation_p.E485Q|MYNN_ENST00000356716.4_Missense_Mutation_p.E485Q	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	485					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)			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			TTCCTCAGGAGAGCTCAACAA	0.338																																						dbGAP											0													135.0	153.0	147.0					3																	169501318		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF148848	CCDS3207.1, CCDS54671.1	3q26.31	2013-01-09			ENSG00000085274	ENSG00000085274		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	14955	protein-coding gene	gene with protein product		606042				10873615	Standard	NM_001185118		Approved	SBBIZ1, ZBTB31, ZNF902	uc010hwo.3	Q9NPC7		ENST00000349841.5:c.1453G>C	3.37:g.169501318G>C	ENSP00000326240:p.Glu485Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6C9|Q6QHA6|Q6QHA7|Q6R3G1|Q6R3G2|Q6R4A0|Q7Z716|Q7Z717|Q86Z11|Q86Z12|Q9NS01|Q9UIW8	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.E485Q	ENST00000349841.5	37	c.1453	CCDS3207.1	3	.	.	.	.	.	.	.	.	.	.	G	22.5	4.301856	0.81136	.	.	ENSG00000085274	ENST00000356716;ENST00000349841;ENST00000392733;ENST00000544106	T;T;T;T	0.07688	3.17;3.17;3.17;3.17	5.19	5.19	0.71726	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000002	T	0.13970	0.0338	N	0.11000	0.08	0.58432	D	0.999994	B;D	0.76494	0.0;0.999	B;D	0.83275	0.001;0.996	T	0.46148	-0.9212	10	0.20046	T	0.44	.	18.7121	0.91661	0.0:0.0:1.0:0.0	.	485;485	Q9NPC7-2;Q9NPC7	.;MYNN_HUMAN	Q	485	ENSP00000349150:E485Q;ENSP00000326240:E485Q;ENSP00000376492:E485Q;ENSP00000440637:E485Q	ENSP00000326240:E485Q	E	+	1	0	MYNN	170984012	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.933000	0.87642	2.419000	0.82065	0.585000	0.79938	GAG	MYNN	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000085274		0.338	MYNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYNN	HGNC	protein_coding	OTTHUMT00000467801.1	113	0.00	0	G	NM_018657		169501318	169501318	+1	no_errors	ENST00000349841	ensembl	human	known	69_37n	missense	112	18.84	26	SNP	1.000	C
MYO18A	399687	genome.wustl.edu	37	17	27421769	27421769	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:27421769G>A	ENST00000527372.1	-	30	4789	c.4609C>T	c.(4609-4611)Ctg>Ttg	p.L1537L	MYO18A_ENST00000533112.1_Silent_p.L1537L|MYO18A_ENST00000354329.4_Silent_p.L1537L|MYO18A_ENST00000531253.1_Silent_p.L1537L	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1537					actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			ACCTTGGCCAGAGAAGCCTCA	0.532																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	dbGAP											0													143.0	138.0	140.0					17																	27421769		1962	4170	6132	-	-	-	SO:0001819	synonymous_variant	0			D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.4609C>T	17.37:g.27421769G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_PDZ,superfamily_PDZ,superfamily_Regulat_G_prot_signal_superfam,smart_PDZ,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_PDZ,pfscan_RecA_monomer-monomer_interface,prints_Myosin_head_motor_dom	p.L1537	ENST00000527372.1	37	c.4609	CCDS45642.1	17																																																																																			MYO18A	-	pfam_Myosin_tail	ENSG00000196535		0.532	MYO18A-001	KNOWN	basic|CCDS	protein_coding	MYO18A	HGNC	protein_coding	OTTHUMT00000389396.1	117	0.00	0	G	NM_078471		27421769	27421769	-1	no_errors	ENST00000354329	ensembl	human	known	69_37n	silent	139	19.19	33	SNP	1.000	A
MYO18A	399687	genome.wustl.edu	37	17	27438527	27438527	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:27438527C>G	ENST00000527372.1	-	17	2995	c.2815G>C	c.(2815-2817)Gag>Cag	p.E939Q	MYO18A_ENST00000533112.1_Missense_Mutation_p.E939Q|MYO18A_ENST00000354329.4_Missense_Mutation_p.E939Q|MYO18A_ENST00000531253.1_Missense_Mutation_p.E939Q	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	939	Myosin motor.				actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			ACATTGTACTCTACCCAGTTG	0.572											OREG0024287	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(182;472 2015 7001 15270 22562)	dbGAP											0													119.0	124.0	123.0					17																	27438527		2046	4197	6243	-	-	-	SO:0001583	missense	0			D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.2815G>C	17.37:g.27438527C>G	ENSP00000437073:p.Glu939Gln	Somatic	794	WXS	Illumina GAIIx	Phase_IV	Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_PDZ,superfamily_PDZ,superfamily_Regulat_G_prot_signal_superfam,smart_PDZ,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_PDZ,pfscan_RecA_monomer-monomer_interface,prints_Myosin_head_motor_dom	p.E939Q	ENST00000527372.1	37	c.2815	CCDS45642.1	17	.	.	.	.	.	.	.	.	.	.	C	12.24	1.878496	0.33162	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000458428	D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3	5.29	5.29	0.74685	Myosin head, motor domain (2);	0.150737	0.56097	D	0.000021	D	0.82527	0.5056	L	0.37800	1.135	0.39187	D	0.962886	B;B;B;B;B	0.25521	0.037;0.084;0.084;0.084;0.128	B;B;B;B;B	0.26517	0.034;0.025;0.037;0.037;0.07	T	0.80296	-0.1442	10	0.38643	T	0.18	.	16.0225	0.80509	0.0:0.8657:0.1342:0.0	.	608;551;939;939;939	Q92614-2;F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;.;MY18A_HUMAN	Q	939;939;939;939;939;551	ENSP00000346291:E939Q;ENSP00000435932:E939Q;ENSP00000434228:E939Q;ENSP00000437073:E939Q	ENSP00000346291:E939Q	E	-	1	0	MYO18A	24462653	1.000000	0.71417	0.998000	0.56505	0.879000	0.50718	4.568000	0.60857	2.468000	0.83385	0.563000	0.77884	GAG	MYO18A	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000196535		0.572	MYO18A-001	KNOWN	basic|CCDS	protein_coding	MYO18A	HGNC	protein_coding	OTTHUMT00000389396.1	193	0.00	0	C	NM_078471		27438527	27438527	-1	no_errors	ENST00000354329	ensembl	human	known	69_37n	missense	193	21.22	52	SNP	1.000	G
MYO18B	84700	genome.wustl.edu	37	22	26168458	26168458	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:26168458C>T	ENST00000407587.2	+	7	2019	c.1850C>T	c.(1849-1851)tCg>tTg	p.S617L	MYO18B_ENST00000335473.7_Missense_Mutation_p.S617L|MYO18B_ENST00000536101.1_Missense_Mutation_p.S617L			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	617	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CGGGGGCCCTCGGTGCCTTCT	0.642																																						dbGAP											0													31.0	33.0	32.0					22																	26168458		1964	4138	6102	-	-	-	SO:0001583	missense	0			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.1850C>T	22.37:g.26168458C>T	ENSP00000386096:p.Ser617Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd_dom,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.S617L	ENST00000407587.2	37	c.1850		22	.	.	.	.	.	.	.	.	.	.	C	8.256	0.810074	0.16537	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.87650	-2.28;-2.28;-2.28	5.19	-7.21	0.01490	Myosin head, motor domain (2);	1.901980	0.02779	N	0.120670	T	0.52025	0.1709	N	0.00265	-1.74	0.09310	N	1	B;B;B;B	0.25169	0.053;0.112;0.119;0.091	B;B;B;B	0.18263	0.007;0.021;0.008;0.012	T	0.57148	-0.7861	10	0.17369	T	0.5	.	2.592	0.04845	0.0966:0.2264:0.2859:0.3911	.	130;617;617;617	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	L	617	ENSP00000441229:S617L;ENSP00000334563:S617L;ENSP00000386096:S617L	ENSP00000334563:S617L	S	+	2	0	MYO18B	24498458	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.553000	0.06012	-0.625000	0.05604	-0.126000	0.14955	TCG	MYO18B	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000133454		0.642	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	MYO18B	HGNC	protein_coding	OTTHUMT00000400691.1	25	0.00	0	C	NM_032608		26168458	26168458	+1	no_errors	ENST00000335473	ensembl	human	known	69_37n	missense	39	15.22	7	SNP	0.000	T
MYO1C	4641	genome.wustl.edu	37	17	1383839	1383839	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:1383839G>A	ENST00000575158.1	-	7	959	c.783C>T	c.(781-783)ttC>ttT	p.F261F	MYO1C_ENST00000361007.2_Silent_p.F261F|MYO1C_ENST00000359786.5_Silent_p.F296F|MYO1C_ENST00000545534.2_Silent_p.F272F|MYO1C_ENST00000438665.2_Silent_p.F277F|MYO1C_ENST00000573198.1_5'UTR			Q12965	MYO1E_HUMAN	myosin IC	267	Myosin motor.				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)		CATCCTCGGTGAAATCAATGA	0.502																																						dbGAP											0													123.0	114.0	117.0					17																	1383839		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			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.783C>T	17.37:g.1383839G>A		Somatic		WXS	Illumina GAIIx	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.F296	ENST00000575158.1	37	c.888	CCDS11003.1	17																																																																																			MYO1C	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000197879		0.502	MYO1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1C	HGNC	protein_coding	OTTHUMT00000438694.2	49	0.00	0	G			1383839	1383839	-1	no_errors	ENST00000359786	ensembl	human	known	69_37n	silent	40	35.48	22	SNP	1.000	A
MYO1F	4542	genome.wustl.edu	37	19	8615498	8615498	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:8615498C>T	ENST00000338257.8	-	9	1119	c.852G>A	c.(850-852)ggG>ggA	p.G284G	AC092316.1_ENST00000598703.1_RNA	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	284	Myosin motor.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						AACTGATGTTCCCCAGGTGCA	0.607																																						dbGAP											0													78.0	83.0	81.0					19																	8615498		2031	4174	6205	-	-	-	SO:0001819	synonymous_variant	0			X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.852G>A	19.37:g.8615498C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WWN7	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain	p.G284	ENST00000338257.8	37	c.852	CCDS42494.1	19																																																																																			MYO1F	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000142347		0.607	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1F	HGNC	protein_coding	OTTHUMT00000342716.2	55	0.00	0	C			8615498	8615498	-1	no_errors	ENST00000338257	ensembl	human	known	69_37n	silent	58	15.94	11	SNP	0.968	T
MYO1H	283446	genome.wustl.edu	37	12	109882270	109882270	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:109882270G>C	ENST00000431443.2	+	29	2911	c.2911G>C	c.(2911-2913)Gaa>Caa	p.E971Q	MYO1H_ENST00000310903.5_Missense_Mutation_p.E961Q|RP11-256L11.3_ENST00000539987.1_RNA	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	971	Myosin tail. {ECO:0000255}.					myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						ACACGTGTTTGAAGCAGTTAC	0.448																																						dbGAP											0													140.0	132.0	135.0					12																	109882270		1971	4171	6142	-	-	-	SO:0001583	missense	0				CCDS53826.1	12q24.11	2011-09-27			ENSG00000174527	ENSG00000174527		"""Myosins / Myosin superfamily : Class I"""	13879	protein-coding gene	gene with protein product		614636					Standard	NM_001101421		Approved	FLJ37587	uc010sxn.1	Q8N1T3	OTTHUMG00000169252	ENST00000431443.2:c.2911G>C	12.37:g.109882270G>C	ENSP00000444076:p.Glu971Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	F5H3C6	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS	p.E971Q	ENST00000431443.2	37	c.2911		12	.	.	.	.	.	.	.	.	.	.	G	23.6	4.429829	0.83776	.	.	ENSG00000174527	ENST00000310903;ENST00000431443;ENST00000542268	T;T	0.65549	-0.16;-0.16	5.6	5.6	0.85130	Myosin tail 2 (1);	.	.	.	.	D	0.83649	0.5300	M	0.90425	3.115	0.48762	D	0.999707	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.86701	0.1929	9	0.87932	D	0	.	18.59	0.91206	0.0:0.0:1.0:0.0	.	971;961	Q8N1T3;F5H3C6	MYO1H_HUMAN;.	Q	961;971;152	ENSP00000439182:E961Q;ENSP00000444076:E971Q	ENSP00000439182:E961Q	E	+	1	0	MYO1H	108366653	1.000000	0.71417	0.507000	0.27676	0.639000	0.38242	9.420000	0.97426	2.632000	0.89209	0.655000	0.94253	GAA	MYO1H	-	pfam_Myosin_tail_2	ENSG00000174527		0.448	MYO1H-201	KNOWN	basic	protein_coding	MYO1H	HGNC	protein_coding		107	0.00	0	G	NM_173597		109882270	109882270	+1	no_errors	ENST00000431443	ensembl	human	known	69_37n	missense	135	17.18	28	SNP	1.000	C
MYO5A	4644	genome.wustl.edu	37	15	52645845	52645845	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:52645845C>G	ENST00000399231.3	-	27	3821	c.3578G>C	c.(3577-3579)aGa>aCa	p.R1193T	MYO5A_ENST00000399233.2_Missense_Mutation_p.R1193T|MYO5A_ENST00000553916.1_Missense_Mutation_p.R1193T|MYO5A_ENST00000358212.6_Missense_Mutation_p.R1193T|MYO5A_ENST00000356338.6_Missense_Mutation_p.R1193T	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1193					actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		AATTTGTGGTCTTTCTTCTTC	0.343																																						dbGAP											0													104.0	99.0	101.0					15																	52645845		1803	4072	5875	-	-	-	SO:0001583	missense	0				CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.3578G>C	15.37:g.52645845C>G	ENSP00000382177:p.Arg1193Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Skp1_comp_dimer,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R1193T	ENST00000399231.3	37	c.3578	CCDS42037.1	15	.	.	.	.	.	.	.	.	.	.	C	14.38	2.516865	0.44763	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	T;T;T;T;T	0.18174	3.58;3.58;2.23;3.58;2.23	5.92	5.01	0.66863	.	0.178551	0.50627	D	0.000103	T	0.08403	0.0209	N	0.03608	-0.345	0.37904	D	0.931145	B;B	0.14805	0.0;0.011	B;B	0.17722	0.001;0.019	T	0.18713	-1.0328	10	0.39692	T	0.17	.	11.2269	0.48888	0.0:0.8606:0.0:0.1394	.	1193;1193	Q9Y4I1;Q9Y4I1-2	MYO5A_HUMAN;.	T	1193;727;1193;1193;1193;823;1193	ENSP00000382177:R1193T;ENSP00000382179:R1193T;ENSP00000348693:R1193T;ENSP00000350945:R1193T;ENSP00000451109:R1193T	ENSP00000348693:R1193T	R	-	2	0	MYO5A	50433137	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.154000	0.42291	1.522000	0.49001	0.655000	0.94253	AGA	MYO5A	-	NULL	ENSG00000197535		0.343	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYO5A	HGNC	protein_coding	OTTHUMT00000268102.1	144	0.00	0	C	NM_000259		52645845	52645845	-1	no_errors	ENST00000358212	ensembl	human	known	69_37n	missense	94	18.97	22	SNP	1.000	G
MYO5B	4645	genome.wustl.edu	37	18	47438438	47438438	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr18:47438438G>A	ENST00000285039.7	-	18	2495	c.2196C>T	c.(2194-2196)ctC>ctT	p.L732L		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	732	Myosin motor.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TCACCTTGATGAGGTTCTCCA	0.522																																						dbGAP											0													172.0	168.0	169.0					18																	47438438		1964	4159	6123	-	-	-	SO:0001819	synonymous_variant	0			AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.2196C>T	18.37:g.47438438G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B0I1R3|Q0P656|Q9H6Y6	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L732	ENST00000285039.7	37	c.2196	CCDS42436.1	18																																																																																			MYO5B	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000167306		0.522	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO5B	HGNC	protein_coding	OTTHUMT00000448515.2	114	0.00	0	G			47438438	47438438	-1	no_errors	ENST00000285039	ensembl	human	known	69_37n	silent	51	30.14	22	SNP	1.000	A
MYO5C	55930	genome.wustl.edu	37	15	52540977	52540977	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:52540977C>G	ENST00000261839.7	-	14	1827	c.1666G>C	c.(1666-1668)Gag>Cag	p.E556Q	MYO5C_ENST00000443683.2_3'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	556	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		CATTTATACTCTACCTATACA	0.368																																						dbGAP											0													86.0	79.0	81.0					15																	52540977		1800	4073	5873	-	-	-	SO:0001583	missense	0			AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"""Myosins / Myosin superfamily : Class V"""	7604	protein-coding gene	gene with protein product	"""myosin 5C"""	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.1666G>C	15.37:g.52540977C>G	ENSP00000261839:p.Glu556Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P1W8	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E556Q	ENST00000261839.7	37	c.1666	CCDS42036.1	15	.	.	.	.	.	.	.	.	.	.	C	25.4	4.636243	0.87760	.	.	ENSG00000128833	ENST00000261839	D	0.87809	-2.3	5.62	5.62	0.85841	Myosin head, motor domain (2);	0.105878	0.64402	D	0.000006	D	0.84515	0.5489	L	0.35249	1.045	0.80722	D	1	P	0.41978	0.767	B	0.44224	0.444	T	0.81737	-0.0796	10	0.23302	T	0.38	.	19.7122	0.96100	0.0:1.0:0.0:0.0	.	556	Q9NQX4	MYO5C_HUMAN	Q	556	ENSP00000261839:E556Q	ENSP00000261839:E556Q	E	-	1	0	MYO5C	50328269	1.000000	0.71417	0.994000	0.49952	0.898000	0.52572	4.617000	0.61204	2.664000	0.90586	0.650000	0.86243	GAG	MYO5C	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000128833		0.368	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO5C	HGNC	protein_coding	OTTHUMT00000419562.1	90	0.00	0	C	NM_018728		52540977	52540977	-1	no_errors	ENST00000261839	ensembl	human	known	69_37n	missense	98	17.65	21	SNP	1.000	G
MYO7A	4647	genome.wustl.edu	37	11	76892550	76892550	+	Nonsense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:76892550C>G	ENST00000409709.3	+	23	3091	c.2819C>G	c.(2818-2820)tCa>tGa	p.S940*	MYO7A_ENST00000409619.2_Nonsense_Mutation_p.S929*|MYO7A_ENST00000458637.2_Nonsense_Mutation_p.S940*|MYO7A_ENST00000409893.1_Nonsense_Mutation_p.S940*	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	940					actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GTCAATCACTCAGACATGGTG	0.617																																						dbGAP											0													54.0	61.0	58.0					11																	76892550		1991	4150	6141	-	-	-	SO:0001587	stop_gained	0			U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.2819C>G	11.37:g.76892550C>G	ENSP00000386331:p.Ser940*	Somatic		WXS	Illumina GAIIx	Phase_IV	B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Nonsense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_FERM_N,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.S940*	ENST00000409709.3	37	c.2819	CCDS53683.1	11	.	.	.	.	.	.	.	.	.	.	.	36	5.831911	0.97003	.	.	ENSG00000137474	ENST00000409709;ENST00000409893;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000343419;ENST00000458169	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	19.0265	0.92934	0.0:1.0:0.0:0.0	.	.	.	.	X	940;940;940;929;151;939;939;816;939;121	.	ENSP00000345075:S816X	S	+	2	0	MYO7A	76570198	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.456000	0.80751	2.489000	0.83994	0.542000	0.68232	TCA	MYO7A	-	NULL	ENSG00000137474		0.617	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	MYO7A	HGNC	protein_coding	OTTHUMT00000328133.1	66	0.00	0	C	NM_000260		76892550	76892550	+1	no_errors	ENST00000409709	ensembl	human	known	69_37n	nonsense	42	30.00	18	SNP	1.000	G
MYO7B	4648	genome.wustl.edu	37	2	128317309	128317309	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:128317309C>T	ENST00000409816.2	+	1	44	c.12C>T	c.(10-12)ttC>ttT	p.F4F	MYO7B_ENST00000389524.4_Silent_p.F4F|MYO7B_ENST00000428314.1_Silent_p.F4F			Q6PIF6	MYO7B_HUMAN	myosin VIIB	4						extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TGTCGGGGTTCAGGCTGGTAA	0.493																																						dbGAP											0													151.0	162.0	158.0					2																	128317309		2047	4192	6239	-	-	-	SO:0001819	synonymous_variant	0				CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.12C>T	2.37:g.128317309C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14786|Q8TEE1	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.F4	ENST00000409816.2	37	c.12	CCDS46405.1	2																																																																																			MYO7B	-	NULL	ENSG00000169994		0.493	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYO7B	HGNC	protein_coding	OTTHUMT00000331124.3	150	0.66	1	C	XM_291001		128317309	128317309	+1	no_errors	ENST00000389524	ensembl	human	known	69_37n	silent	144	19.10	34	SNP	0.211	T
MYO7B	4648	genome.wustl.edu	37	2	128347711	128347711	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:128347711C>T	ENST00000409816.2	+	15	1931	c.1899C>T	c.(1897-1899)ttC>ttT	p.F633F	MYO7B_ENST00000389524.4_Silent_p.F633F|MYO7B_ENST00000428314.1_Silent_p.F633F			Q6PIF6	MYO7B_HUMAN	myosin VIIB	633	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GAAGCCAGTTCAAACAGTCTC	0.507																																						dbGAP											0													46.0	47.0	47.0					2																	128347711		1960	4145	6105	-	-	-	SO:0001819	synonymous_variant	0				CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.1899C>T	2.37:g.128347711C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14786|Q8TEE1	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.F633	ENST00000409816.2	37	c.1899	CCDS46405.1	2																																																																																			MYO7B	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000169994		0.507	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYO7B	HGNC	protein_coding	OTTHUMT00000331124.3	69	0.00	0	C	XM_291001		128347711	128347711	+1	no_errors	ENST00000389524	ensembl	human	known	69_37n	silent	82	19.61	20	SNP	1.000	T
MYOCD	93649	genome.wustl.edu	37	17	12649336	12649336	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:12649336G>T	ENST00000343344.4	+	9	1072	c.1072G>T	c.(1072-1074)Ggt>Tgt	p.G358C	MYOCD_ENST00000395988.1_3'UTR|AC005358.1_ENST00000609971.1_Missense_Mutation_p.G262C|MYOCD_ENST00000425538.1_Missense_Mutation_p.G358C			Q8IZQ8	MYCD_HUMAN	myocardin	358					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|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 factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TGGACAAACTGGTGTCTCTTC	0.413																																						dbGAP											0													136.0	130.0	132.0					17																	12649336		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.1072G>T	17.37:g.12649336G>T	ENSP00000341835:p.Gly358Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	pfam_RPEL_repeat,pfam_SAP_DNA-bd,smart_RPEL_repeat,smart_SAP_DNA-bd,pfscan_RPEL_repeat,pfscan_SAP_DNA-bd	p.G358C	ENST00000343344.4	37	c.1072	CCDS11163.1	17	.	.	.	.	.	.	.	.	.	.	G	11.37	1.617816	0.28801	.	.	ENSG00000141052	ENST00000395982;ENST00000425538;ENST00000343344;ENST00000395988;ENST00000443061	T;T	0.44482	0.92;0.94	5.71	4.75	0.60458	.	0.411982	0.30068	N	0.010490	T	0.23766	0.0575	N	0.14661	0.345	0.34479	D	0.703709	B;B;B;B	0.14805	0.002;0.004;0.011;0.001	B;B;B;B	0.18263	0.002;0.021;0.009;0.004	T	0.19224	-1.0312	10	0.42905	T	0.14	-19.0485	5.6803	0.17771	0.1596:0.0:0.6822:0.1581	.	77;262;358;358	E9PEP9;Q8IZQ8-2;Q8IZQ8-3;Q8IZQ8	.;.;.;MYCD_HUMAN	C	77;358;358;262;63	ENSP00000341835:G358C;ENSP00000400148:G63C	ENSP00000341835:G358C	G	+	1	0	MYOCD	12590061	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.543000	0.45752	1.434000	0.47414	0.561000	0.74099	GGT	MYOCD	-	NULL	ENSG00000141052		0.413	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOCD	HGNC	protein_coding	OTTHUMT00000129950.1	108	0.00	0	G	NM_153604		12649336	12649336	+1	no_errors	ENST00000425538	ensembl	human	known	69_37n	missense	71	22.83	21	SNP	1.000	T
MYOCD	93649	genome.wustl.edu	37	17	12656371	12656371	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:12656371G>C	ENST00000343344.4	+	10	1766	c.1766G>C	c.(1765-1767)aGa>aCa	p.R589T	MYOCD_ENST00000395988.1_3'UTR|AC005358.1_ENST00000609971.1_Missense_Mutation_p.R493T|MYOCD_ENST00000425538.1_Missense_Mutation_p.R589T			Q8IZQ8	MYCD_HUMAN	myocardin	589					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|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 factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CCTGTGAAAAGACAAAGCAGC	0.517																																						dbGAP											0													80.0	85.0	84.0					17																	12656371		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.1766G>C	17.37:g.12656371G>C	ENSP00000341835:p.Arg589Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	pfam_RPEL_repeat,pfam_SAP_DNA-bd,smart_RPEL_repeat,smart_SAP_DNA-bd,pfscan_RPEL_repeat,pfscan_SAP_DNA-bd	p.R589T	ENST00000343344.4	37	c.1766	CCDS11163.1	17	.	.	.	.	.	.	.	.	.	.	G	3.665	-0.068770	0.07228	.	.	ENSG00000141052	ENST00000395982;ENST00000425538;ENST00000343344;ENST00000395988;ENST00000443061	T;T	0.41400	1.0;1.0	5.75	3.52	0.40303	.	0.448803	0.25654	N	0.029184	T	0.26593	0.0650	L	0.36672	1.1	0.09310	N	1	B;B;B;B	0.24882	0.033;0.113;0.113;0.069	B;B;B;B	0.26094	0.013;0.041;0.066;0.021	T	0.13150	-1.0520	10	0.13853	T	0.58	-3.4929	4.6481	0.12582	0.0793:0.1224:0.5209:0.2773	.	308;493;589;589	E9PEP9;Q8IZQ8-2;Q8IZQ8-3;Q8IZQ8	.;.;.;MYCD_HUMAN	T	308;589;589;493;294	ENSP00000341835:R589T;ENSP00000400148:R294T	ENSP00000341835:R589T	R	+	2	0	MYOCD	12597096	0.044000	0.20184	0.026000	0.17262	0.007000	0.05969	0.515000	0.22801	1.379000	0.46325	0.655000	0.94253	AGA	MYOCD	-	NULL	ENSG00000141052		0.517	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOCD	HGNC	protein_coding	OTTHUMT00000129950.1	47	0.00	0	G	NM_153604		12656371	12656371	+1	no_errors	ENST00000425538	ensembl	human	known	69_37n	missense	43	21.82	12	SNP	0.016	C
MYOCD	93649	genome.wustl.edu	37	17	12659801	12659801	+	Intron	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:12659801C>G	ENST00000343344.4	+	11	2058				MYOCD_ENST00000395988.1_3'UTR|AC005358.1_ENST00000609971.1_Missense_Mutation_p.S614C|MYOCD_ENST00000425538.1_Missense_Mutation_p.S710C			Q8IZQ8	MYCD_HUMAN	myocardin						cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|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 factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CCGCCCTTCTCTGGAGCCCAA	0.542																																						dbGAP											0													52.0	51.0	51.0					17																	12659801		692	1591	2283	-	-	-	SO:0001627	intron_variant	0			AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.2059-1601C>G	17.37:g.12659801C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	pfam_RPEL_repeat,pfam_SAP_DNA-bd,smart_RPEL_repeat,smart_SAP_DNA-bd,pfscan_RPEL_repeat,pfscan_SAP_DNA-bd	p.S710C	ENST00000343344.4	37	c.2129	CCDS11163.1	17	.	.	.	.	.	.	.	.	.	.	C	5.794	0.330750	0.10956	.	.	ENSG00000141052	ENST00000395982;ENST00000425538;ENST00000395988;ENST00000443061	T	0.47869	0.83	4.83	3.79	0.43588	.	0.781535	0.12320	N	0.479354	T	0.45175	0.1329	M	0.69823	2.125	0.37770	D	0.926633	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.08055	0.001;0.003;0.001	T	0.52668	-0.8545	10	0.49607	T	0.09	-2.6818	7.1852	0.25795	0.0:0.8778:0.0:0.1222	.	429;614;710	E9PEP9;Q8IZQ8-2;Q8IZQ8-3	.;.;.	C	429;710;614;415	ENSP00000400148:S415C	ENSP00000379306:S429C	S	+	2	0	MYOCD	12600526	0.984000	0.35163	0.970000	0.41538	0.178000	0.23041	2.060000	0.41394	2.529000	0.85273	0.655000	0.94253	TCT	MYOCD	-	NULL	ENSG00000141052		0.542	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOCD	HGNC	protein_coding	OTTHUMT00000129950.1	51	0.00	0	C	NM_153604		12659801	12659801	+1	no_errors	ENST00000425538	ensembl	human	known	69_37n	missense	37	22.92	11	SNP	0.962	G
MYOCD	93649	genome.wustl.edu	37	17	12666389	12666389	+	Splice_Site	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:12666389G>A	ENST00000343344.4	+	13	2245		c.e13-1		RP11-1090M7.1_ENST00000584772.1_RNA|MYOCD_ENST00000425538.1_Splice_Site			Q8IZQ8	MYCD_HUMAN	myocardin						cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|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 factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.?(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		ATTGCCCACAGAAATGCCAGC	0.463																																						dbGAP											1	Unknown(1)	skin(1)											75.0	73.0	73.0					17																	12666389		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.2246-1G>A	17.37:g.12666389G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5UBU5|Q8N7Q1	Splice_Site	SNP	-	e14-1	ENST00000343344.4	37	c.2390-1	CCDS11163.1	17	.	.	.	.	.	.	.	.	.	.	G	21.6	4.171064	0.78452	.	.	ENSG00000141052	ENST00000395982;ENST00000425538;ENST00000343344;ENST00000443061	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4386	0.90656	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYOCD	12607114	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	8.507000	0.90522	2.894000	0.99253	0.655000	0.94253	.	MYOCD	-	-	ENSG00000141052		0.463	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOCD	HGNC	protein_coding	OTTHUMT00000129950.1	31	0.00	0	G	NM_153604	Intron	12666389	12666389	+1	no_errors	ENST00000425538	ensembl	human	known	69_37n	splice_site	4	73.33	11	SNP	1.000	A
MYOM1	8736	genome.wustl.edu	37	18	3188817	3188817	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr18:3188817C>G	ENST00000356443.4	-	4	1033	c.700G>C	c.(700-702)Gaa>Caa	p.E234Q	RP13-270P17.2_ENST00000580139.1_RNA|MYOM1_ENST00000400569.3_Missense_Mutation_p.E234Q|MYOM1_ENST00000261606.7_Missense_Mutation_p.E234Q	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	234					muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TCAGAAGTTTCTTCCTGTTGA	0.483																																						dbGAP											0													123.0	117.0	119.0					18																	3188817		1956	4144	6100	-	-	-	SO:0001583	missense	0			AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.700G>C	18.37:g.3188817C>G	ENSP00000348821:p.Glu234Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E234Q	ENST00000356443.4	37	c.700	CCDS45824.1	18	.	.	.	.	.	.	.	.	.	.	C	23.5	4.417878	0.83449	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.49432	0.91;0.91;0.78	5.84	5.84	0.93424	.	0.178204	0.48286	D	0.000189	T	0.52158	0.1717	N	0.14661	0.345	0.25552	N	0.987076	D;D	0.89917	1.0;1.0	D;D	0.74023	0.982;0.959	T	0.49934	-0.8886	10	0.28530	T	0.3	.	17.9131	0.88940	0.0:1.0:0.0:0.0	.	234;234	P52179-2;P52179	.;MYOM1_HUMAN	Q	234	ENSP00000348821:E234Q;ENSP00000383413:E234Q;ENSP00000261606:E234Q	ENSP00000261606:E234Q	E	-	1	0	MYOM1	3178817	0.985000	0.35326	0.047000	0.18901	0.673000	0.39480	3.094000	0.50227	2.756000	0.94617	0.603000	0.83216	GAA	MYOM1	-	NULL	ENSG00000101605		0.483	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYOM1	HGNC	protein_coding	OTTHUMT00000441037.2	247	0.00	0	C	NM_003803		3188817	3188817	-1	no_errors	ENST00000356443	ensembl	human	known	69_37n	missense	138	35.51	76	SNP	0.682	G
MYOM3	127294	genome.wustl.edu	37	1	24384096	24384096	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:24384096C>T	ENST00000374434.3	-	37	4234	c.4072G>A	c.(4072-4074)Gtc>Atc	p.V1358I	MYOM3_ENST00000338909.5_Missense_Mutation_p.V251I|MYOM3_ENST00000330966.7_Missense_Mutation_p.V1361I|RP11-293P20.2_ENST00000439239.2_RNA	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	1358	Ig-like C2-type 4.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TCTCCTGAGACGATGCAAGTC	0.517																																						dbGAP											0													69.0	70.0	70.0					1																	24384096		1965	4147	6112	-	-	-	SO:0001583	missense	0			AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.4072G>A	1.37:g.24384096C>T	ENSP00000363557:p.Val1358Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.V1361I	ENST00000374434.3	37	c.4081	CCDS41281.1	1	.	.	.	.	.	.	.	.	.	.	C	7.702	0.693292	0.15039	.	.	ENSG00000142661	ENST00000338909;ENST00000374434;ENST00000330966;ENST00000374442	T;T;T	0.72051	-0.62;-0.62;-0.62	4.71	2.39	0.29439	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.264128	0.37095	N	0.002244	T	0.45776	0.1359	N	0.11427	0.14	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.11329	0.001;0.006	T	0.13098	-1.0522	10	0.13853	T	0.58	.	8.8073	0.34945	0.0:0.2275:0.0:0.7725	.	1358;251	Q5VTT5;Q5VTT5-3	MYOM3_HUMAN;.	I	251;1358;1361;252	ENSP00000342689:V251I;ENSP00000363557:V1358I;ENSP00000332670:V1361I	ENSP00000332670:V1361I	V	-	1	0	MYOM3	24256683	0.947000	0.32204	1.000000	0.80357	0.614000	0.37383	0.100000	0.15231	0.324000	0.23333	-0.238000	0.12139	GTC	MYOM3	-	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000142661		0.517	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYOM3	HGNC	protein_coding	OTTHUMT00000008272.2	44	0.00	0	C	NM_152372		24384096	24384096	-1	no_errors	ENST00000330966	ensembl	human	known	69_37n	missense	59	24.36	19	SNP	0.877	T
MYOM3	127294	genome.wustl.edu	37	1	24406556	24406556	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:24406556C>G	ENST00000374434.3	-	20	2698	c.2536G>C	c.(2536-2538)Gag>Cag	p.E846Q	MYOM3_ENST00000329601.7_Missense_Mutation_p.E846Q|RP11-293P20.4_ENST00000429191.1_RNA|MYOM3_ENST00000475306.1_5'Flank|MYOM3_ENST00000330966.7_Missense_Mutation_p.E847Q|RP11-293P20.2_ENST00000439239.2_RNA	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	846	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TTCCACTGCTCAGAGCCTTCC	0.612																																						dbGAP											0													66.0	74.0	71.0					1																	24406556		1962	4152	6114	-	-	-	SO:0001583	missense	0			AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.2536G>C	1.37:g.24406556C>G	ENSP00000363557:p.Glu846Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E847Q	ENST00000374434.3	37	c.2539	CCDS41281.1	1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.902437	0.72754	.	.	ENSG00000142661	ENST00000374434;ENST00000330966;ENST00000329601	T;T;T	0.58060	0.36;0.36;0.36	5.51	4.6	0.57074	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.389028	0.29752	N	0.011295	T	0.60090	0.2242	L	0.48174	1.505	0.35241	D	0.777809	P;D	0.57257	0.928;0.979	P;P	0.57846	0.828;0.815	T	0.67968	-0.5533	10	0.45353	T	0.12	.	13.737	0.62824	0.0:0.9266:0.0:0.0734	.	846;846	Q5VTT5-2;Q5VTT5	.;MYOM3_HUMAN	Q	846;847;846	ENSP00000363557:E846Q;ENSP00000332670:E847Q;ENSP00000328415:E846Q	ENSP00000328415:E846Q	E	-	1	0	MYOM3	24279143	0.999000	0.42202	1.000000	0.80357	0.992000	0.81027	3.765000	0.55272	2.600000	0.87896	0.655000	0.94253	GAG	MYOM3	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000142661		0.612	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYOM3	HGNC	protein_coding	OTTHUMT00000008272.2	45	0.00	0	C	NM_152372		24406556	24406556	-1	no_errors	ENST00000330966	ensembl	human	known	69_37n	missense	49	16.95	10	SNP	0.984	G
MYOZ3	91977	genome.wustl.edu	37	5	150051169	150051169	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:150051169G>C	ENST00000297130.4	+	4	426	c.227G>C	c.(226-228)gGa>gCa	p.G76A	MYOZ3_ENST00000520112.1_5'Flank|MYOZ3_ENST00000517768.1_Missense_Mutation_p.G76A|CTC-345K18.2_ENST00000511626.2_RNA	NM_001122853.2|NM_133371.4	NP_001116325.1|NP_588612.2			myozenin 3											large_intestine(2)|lung(1)|skin(2)	5		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATGCTGGCCGGAAGCGCCAGG	0.652																																						dbGAP											0													58.0	68.0	65.0					5																	150051169		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF480443	CCDS4309.1	5q33.2	2008-07-18			ENSG00000164591	ENSG00000164591			18565	protein-coding gene	gene with protein product	"""calsarcin 3"", ""FATZ related protein 3"""	610735				11842093	Standard	NM_001122853		Approved	CS-3, CS3, FRP3	uc003lsr.3	Q8TDC0	OTTHUMG00000130077	ENST00000297130.4:c.227G>C	5.37:g.150051169G>C	ENSP00000297130:p.Gly76Ala	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Calsarcin-bd	p.G76A	ENST00000297130.4	37	c.227	CCDS4309.1	5	.	.	.	.	.	.	.	.	.	.	G	10.24	1.294913	0.23564	.	.	ENSG00000164591	ENST00000517768;ENST00000297130	T;T	0.61980	0.06;0.06	3.38	3.38	0.38709	.	1.503240	0.03925	N	0.284243	T	0.53867	0.1823	L	0.44542	1.39	0.39142	D	0.962069	B	0.02656	0.0	B	0.09377	0.004	T	0.39522	-0.9610	10	0.07990	T	0.79	-10.067	10.5588	0.45133	0.0:0.0:1.0:0.0	.	76	Q8TDC0	MYOZ3_HUMAN	A	76	ENSP00000428815:G76A;ENSP00000297130:G76A	ENSP00000297130:G76A	G	+	2	0	MYOZ3	150031362	0.886000	0.30341	0.024000	0.17045	0.134000	0.20937	2.606000	0.46291	2.200000	0.70718	0.313000	0.20887	GGA	MYOZ3	-	pfam_Calsarcin-bd	ENSG00000164591		0.652	MYOZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOZ3	HGNC	protein_coding	OTTHUMT00000252369.1	43	0.00	0	G	NM_001122853		150051169	150051169	+1	no_errors	ENST00000297130	ensembl	human	known	69_37n	missense	23	34.29	12	SNP	0.028	C
MYPN	84665	genome.wustl.edu	37	10	69918267	69918267	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:69918267G>C	ENST00000358913.5	+	7	1830	c.1342G>C	c.(1342-1344)Gag>Cag	p.E448Q	RN7SKP202_ENST00000410439.1_RNA|MYPN_ENST00000354393.2_Missense_Mutation_p.E173Q|MYPN_ENST00000540630.1_Missense_Mutation_p.E448Q|MYPN_ENST00000373675.3_Missense_Mutation_p.E448Q	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	448	Ig-like 2.|Interaction with CARP.				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						GTCAGCTTCTGAGGGTCAGCT	0.353																																						dbGAP											0													97.0	96.0	96.0					10																	69918267		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.1342G>C	10.37:g.69918267G>C	ENSP00000351790:p.Glu448Gln	Somatic		WXS	Illumina GAIIx	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.E448Q	ENST00000358913.5	37	c.1342	CCDS7275.1	10	.	.	.	.	.	.	.	.	.	.	G	21.7	4.185872	0.78789	.	.	ENSG00000138347	ENST00000354393;ENST00000542332;ENST00000358913;ENST00000540630;ENST00000373675	T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46	5.62	5.62	0.85841	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.202092	0.42420	D	0.000703	T	0.78929	0.4361	L	0.49778	1.585	0.50813	D	0.999896	D;P;D;D	0.89917	0.998;0.865;0.97;1.0	D;P;P;D	0.87578	0.994;0.521;0.7;0.998	T	0.76075	-0.3092	9	.	.	.	.	19.6547	0.95831	0.0:0.0:1.0:0.0	.	448;448;173;448	F5GWA6;Q86TC9-3;Q86TC9-2;Q86TC9	.;.;.;MYPN_HUMAN	Q	173;173;448;448;448	ENSP00000346369:E173Q;ENSP00000351790:E448Q;ENSP00000441668:E448Q;ENSP00000362779:E448Q	.	E	+	1	0	MYPN	69588273	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.190000	0.72057	2.661000	0.90470	0.655000	0.94253	GAG	MYPN	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000138347		0.353	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYPN	HGNC	protein_coding	OTTHUMT00000048307.1	157	0.00	0	G	NM_032578		69918267	69918267	+1	no_errors	ENST00000358913	ensembl	human	known	69_37n	missense	65	33.67	33	SNP	1.000	C
MYPN	84665	genome.wustl.edu	37	10	69955271	69955271	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:69955271C>T	ENST00000358913.5	+	15	3628	c.3140C>T	c.(3139-3141)tCt>tTt	p.S1047F	MYPN_ENST00000354393.2_Missense_Mutation_p.S772F|MYPN_ENST00000540630.1_Missense_Mutation_p.S1047F	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	1047	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						CGGCTAACCTCTGCTGGTCAG	0.488																																						dbGAP											0													99.0	96.0	97.0					10																	69955271		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.3140C>T	10.37:g.69955271C>T	ENSP00000351790:p.Ser1047Phe	Somatic		WXS	Illumina GAIIx	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.S1047F	ENST00000358913.5	37	c.3140	CCDS7275.1	10	.	.	.	.	.	.	.	.	.	.	C	7.446	0.641599	0.14451	.	.	ENSG00000138347	ENST00000354393;ENST00000542332;ENST00000358913;ENST00000540630	T;T;T	0.60672	0.17;0.27;0.24	5.45	5.45	0.79879	.	0.838564	0.10899	N	0.621844	T	0.48714	0.1515	L	0.36672	1.1	0.09310	N	1	B;B;B	0.26258	0.145;0.145;0.034	B;B;B	0.24541	0.04;0.054;0.033	T	0.29610	-1.0006	9	.	.	.	.	12.9324	0.58294	0.0:0.9253:0.0:0.0747	.	1047;772;1047	F5GWA6;Q86TC9-2;Q86TC9	.;.;MYPN_HUMAN	F	772;772;1047;1047	ENSP00000346369:S772F;ENSP00000351790:S1047F;ENSP00000441668:S1047F	.	S	+	2	0	MYPN	69625277	0.138000	0.22547	0.154000	0.22540	0.154000	0.21943	3.212000	0.51145	2.721000	0.93114	0.655000	0.94253	TCT	MYPN	-	NULL	ENSG00000138347		0.488	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYPN	HGNC	protein_coding	OTTHUMT00000048307.1	64	0.00	0	C	NM_032578		69955271	69955271	+1	no_errors	ENST00000358913	ensembl	human	known	69_37n	missense	45	27.42	17	SNP	0.010	T
MYT1	4661	genome.wustl.edu	37	20	62853303	62853303	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:62853303G>A	ENST00000328439.1	+	14	2663	c.2299G>A	c.(2299-2301)Gaa>Aaa	p.E767K	MYT1_ENST00000536311.1_Missense_Mutation_p.E794K|MYT1_ENST00000360149.4_Missense_Mutation_p.E469K	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					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)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GGAAGTGTCGGAAGAGAATTT	0.498																																					GBM(59;481 1041 20555 21139 33705)	dbGAP											0													64.0	64.0	64.0					20																	62853303		2203	4300	6503	-	-	-	SO:0001583	missense	0			M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.2299G>A	20.37:g.62853303G>A	ENSP00000327465:p.Glu767Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.E794K	ENST00000328439.1	37	c.2380	CCDS13558.1	20	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829792	0.71258	.	.	ENSG00000196132	ENST00000360149;ENST00000328439;ENST00000536311	T;T;T	0.48201	0.82;0.82;0.82	5.12	5.12	0.69794	Myelin transcription factor 1 (1);	0.059171	0.64402	D	0.000002	T	0.55625	0.1932	L	0.44542	1.39	0.48087	D	0.999586	D;B;P	0.61697	0.99;0.274;0.956	P;B;P	0.56163	0.793;0.115;0.622	T	0.49808	-0.8900	10	0.28530	T	0.3	-17.0428	18.5518	0.91068	0.0:0.0:1.0:0.0	.	794;767;469	F5H7M8;Q01538;Q6P6D5	.;MYT1_HUMAN;.	K	469;767;794	ENSP00000353269:E469K;ENSP00000327465:E767K;ENSP00000442412:E794K	ENSP00000327465:E767K	E	+	1	0	MYT1	62323747	1.000000	0.71417	0.990000	0.47175	0.997000	0.91878	6.856000	0.75450	2.396000	0.81511	0.655000	0.94253	GAA	MYT1	-	pfam_Myelin_TF	ENSG00000196132		0.498	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYT1	HGNC	protein_coding	OTTHUMT00000080297.1	60	0.00	0	G	NM_004535		62853303	62853303	+1	no_errors	ENST00000536311	ensembl	human	known	69_37n	missense	80	34.96	43	SNP	0.998	A
NAA16	79612	genome.wustl.edu	37	13	41891017	41891017	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr13:41891017C>T	ENST00000379406.3	+	2	414	c.90C>T	c.(88-90)ctC>ctT	p.L30L	NAA16_ENST00000403412.3_Silent_p.L30L|NAA16_ENST00000379367.3_Silent_p.L30L	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	30					N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ribosome binding (GO:0043022)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						AAAATGGCCTCAAGTTTTGCA	0.338																																						dbGAP											0													109.0	113.0	111.0					13																	41891017		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL833341	CCDS9379.1, CCDS45044.1	13q14.11	2013-01-10	2010-01-14	2010-01-14	ENSG00000172766	ENSG00000172766		"""N(alpha)-acetyltransferase subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	26164	protein-coding gene	gene with protein product			"""NMDA receptor regulated 1-like"""	NARG1L		11483580, 19660095	Standard	NM_024561		Approved	FLJ22054, MGC40612, PRO2435	uc001uyf.2	Q6N069	OTTHUMG00000016791	ENST00000379406.3:c.90C>T	13.37:g.41891017C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B0QZ59|Q5VSP9|Q6P2D5|Q8N5J3|Q8N870	Silent	SNP	pfam_TPR_2,pfam_NatA_aux_su,pfam_TPR-1,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L30	ENST00000379406.3	37	c.90	CCDS9379.1	13																																																																																			NAA16	-	pirsf_NatA_aux_su	ENSG00000172766		0.338	NAA16-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA16	HGNC	protein_coding	OTTHUMT00000044672.2	151	0.00	0	C	NM_018527		41891017	41891017	+1	no_errors	ENST00000379406	ensembl	human	known	69_37n	silent	91	23.53	28	SNP	1.000	T
NAA16	79612	genome.wustl.edu	37	13	41933013	41933013	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr13:41933013G>C	ENST00000379406.3	+	12	1649	c.1325G>C	c.(1324-1326)aGa>aCa	p.R442T	NAA16_ENST00000379367.3_Missense_Mutation_p.R442T	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	442					N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ribosome binding (GO:0043022)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						ACAGCTGATAGATTCATCAAT	0.363																																						dbGAP											0													98.0	100.0	99.0					13																	41933013		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL833341	CCDS9379.1, CCDS45044.1	13q14.11	2013-01-10	2010-01-14	2010-01-14	ENSG00000172766	ENSG00000172766		"""N(alpha)-acetyltransferase subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	26164	protein-coding gene	gene with protein product			"""NMDA receptor regulated 1-like"""	NARG1L		11483580, 19660095	Standard	NM_024561		Approved	FLJ22054, MGC40612, PRO2435	uc001uyf.2	Q6N069	OTTHUMG00000016791	ENST00000379406.3:c.1325G>C	13.37:g.41933013G>C	ENSP00000368716:p.Arg442Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B0QZ59|Q5VSP9|Q6P2D5|Q8N5J3|Q8N870	Missense_Mutation	SNP	pfam_TPR_2,pfam_NatA_aux_su,pfam_TPR-1,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R442T	ENST00000379406.3	37	c.1325	CCDS9379.1	13	.	.	.	.	.	.	.	.	.	.	G	24.4	4.524295	0.85600	.	.	ENSG00000172766	ENST00000379367;ENST00000379406	T;T	0.72725	-0.68;-0.68	4.91	4.91	0.64330	Tetratricopeptide-like helical (1);	0.000000	0.64402	D	0.000002	D	0.88070	0.6338	M	0.92691	3.335	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.91181	0.4976	10	0.72032	D	0.01	-15.4441	18.0833	0.89449	0.0:0.0:1.0:0.0	.	442	Q6N069	NAA16_HUMAN	T	442	ENSP00000368674:R442T;ENSP00000368716:R442T	ENSP00000368674:R442T	R	+	2	0	NAA16	40831013	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.171000	0.94802	2.262000	0.75019	0.561000	0.74099	AGA	NAA16	-	pirsf_NatA_aux_su	ENSG00000172766		0.363	NAA16-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA16	HGNC	protein_coding	OTTHUMT00000044672.2	60	0.00	0	G	NM_018527		41933013	41933013	+1	no_errors	ENST00000379406	ensembl	human	known	69_37n	missense	34	47.69	31	SNP	1.000	C
NACA	4666	genome.wustl.edu	37	12	57113180	57113180	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:57113180G>C	ENST00000454682.1	-	3	2415	c.2134C>G	c.(2134-2136)Cca>Gca	p.P712A	NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	712	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TGGGGGGATGGAGCCACAGGG	0.522			T	BCL6	NHL																																	dbGAP		Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	0													36.0	33.0	34.0					12																	57113180		1568	3582	5150	-	-	-	SO:0001583	missense	0			X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.2134C>G	12.37:g.57113180G>C	ENSP00000403817:p.Pro712Ala	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Nas_poly-pep-assoc_cplx,superfamily_UBA-like,pfscan_Nas_poly-pep-assoc_cplx	p.P712A	ENST00000454682.1	37	c.2134		12	.	.	.	.	.	.	.	.	.	.	G	8.410	0.843961	0.16963	.	.	ENSG00000196531	ENST00000454682	T	0.47528	0.84	3.63	1.68	0.24146	.	.	.	.	.	T	0.27798	0.0684	.	.	.	0.09310	N	1	P	0.37061	0.58	B	0.32090	0.14	T	0.09143	-1.0688	7	.	.	.	.	5.5518	0.17095	0.2724:0.0:0.7276:0.0	.	712	E9PAV3	.	A	712	ENSP00000403817:P712A	.	P	-	1	0	NACA	55399447	0.000000	0.05858	0.834000	0.33040	0.193000	0.23685	-0.403000	0.07214	0.478000	0.27488	0.449000	0.29647	CCA	NACA	-	NULL	ENSG00000196531		0.522	NACA-201	KNOWN	basic	protein_coding	NACA	HGNC	protein_coding		33	0.00	0	G	NM_005594		57113180	57113180	-1	no_errors	ENST00000454682	ensembl	human	known	69_37n	missense	34	43.33	26	SNP	0.306	C
NACA2	342538	genome.wustl.edu	37	17	59668454	59668454	+	Missense_Mutation	SNP	C	C	T	rs147166853		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:59668454C>T	ENST00000521764.1	-	1	109	c.88G>A	c.(88-90)Gat>Aat	p.D30N		NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN	nascent polypeptide-associated complex alpha subunit 2	30					myoblast migration (GO:0051451)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					TCACCACTATCAGATGCTGTT	0.542																																						dbGAP											0													90.0	79.0	83.0					17																	59668454		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC062710	CCDS11630.1	17q23.3	2014-01-28	2007-04-20	2007-04-20		ENSG00000253506			23290	protein-coding gene	gene with protein product	"""alpha-NAC protein"""	609274	"""nascent-polypeptide-associated complex alpha polypeptide-like"""	NACAL		12406326	Standard	NM_199290		Approved	MGC71999	uc002izj.2	Q9H009		ENST00000521764.1:c.88G>A	17.37:g.59668454C>T	ENSP00000427802:p.Asp30Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2VIR9	Missense_Mutation	SNP	pfam_Nas_poly-pep-assoc_cplx,superfamily_UBA-like,pirsf_Nas_poly-pep-assoc_cplx_asu,pfscan_Nas_poly-pep-assoc_cplx	p.D30N	ENST00000521764.1	37	c.88	CCDS11630.1	17	.	.	.	.	.	.	.	.	.	.	C	15.06	2.719766	0.48728	.	.	ENSG00000253506	ENST00000521764	T	0.47177	0.85	0.753	0.753	0.18404	.	0.000000	0.64402	U	0.000008	T	0.41511	0.1162	M	0.78049	2.395	0.46849	D	0.999221	B	0.25441	0.126	B	0.16289	0.015	T	0.28744	-1.0034	9	.	.	.	.	7.3227	0.26536	0.0:1.0:0.0:0.0	.	30	Q9H009	NACA2_HUMAN	N	30	ENSP00000427802:D30N	.	D	-	1	0	NACA2	57023236	1.000000	0.71417	0.800000	0.32199	0.237000	0.25408	3.506000	0.53364	0.702000	0.31825	0.411000	0.27672	GAT	NACA2	-	pirsf_Nas_poly-pep-assoc_cplx_asu	ENSG00000253506		0.542	NACA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NACA2	HGNC	protein_coding	OTTHUMT00000255437.2	111	0.00	0	C	NM_199290		59668454	59668454	-1	no_errors	ENST00000521764	ensembl	human	known	69_37n	missense	199	12.33	28	SNP	1.000	T
NACAD	23148	genome.wustl.edu	37	7	45122392	45122392	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:45122392C>G	ENST00000490531.2	-	2	3406	c.3387G>C	c.(3385-3387)ctG>ctC	p.L1129L		NM_001146334.1	NP_001139806.1	O15069	NACAD_HUMAN	NAC alpha domain containing	1129					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|skin(2)	5						ACTTGCCACTCAGGCCTCTTT	0.667																																						dbGAP											0													36.0	40.0	38.0					7																	45122392		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AB002361	CCDS47582.1	7p13	2010-07-14			ENSG00000136274	ENSG00000136274			22196	protein-coding gene	gene with protein product							Standard	NM_001146334		Approved	KIAA0363	uc003tmt.3	O15069	OTTHUMG00000159170	ENST00000490531.2:c.3387G>C	7.37:g.45122392C>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Nas_poly-pep-assoc_cplx,pfscan_Nas_poly-pep-assoc_cplx	p.L1129	ENST00000490531.2	37	c.3387	CCDS47582.1	7																																																																																			NACAD	-	NULL	ENSG00000136274		0.667	NACAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NACAD	HGNC	protein_coding	OTTHUMT00000353652.2	21	0.00	0	C	NM_001146334		45122392	45122392	-1	no_errors	ENST00000490531	ensembl	human	known	69_37n	silent	14	41.67	10	SNP	0.000	G
NAE1	8883	genome.wustl.edu	37	16	66842961	66842961	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:66842961G>C	ENST00000290810.3	-	16	1265	c.1168C>G	c.(1168-1170)Ctt>Gtt	p.L390V	NAE1_ENST00000379463.2_Missense_Mutation_p.L384V|NAE1_ENST00000394074.2_Missense_Mutation_p.L301V|NAE1_ENST00000359087.4_Missense_Mutation_p.L393V			Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1	390					mitotic DNA replication checkpoint (GO:0033314)|neuron apoptotic process (GO:0051402)|protein neddylation (GO:0045116)|regulation of apoptotic process (GO:0042981)|regulation of neuron apoptotic process (GO:0043523)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|protein heterodimerization activity (GO:0046982)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	ACCACTCGAAGAAATGCAGAA	0.363																																						dbGAP											0													79.0	73.0	75.0					16																	66842961		2200	4300	6500	-	-	-	SO:0001583	missense	0			U50939	CCDS10820.1, CCDS42171.1, CCDS42172.1, CCDS67050.1	16q22	2013-09-26	2007-12-11	2007-12-11	ENSG00000159593	ENSG00000159593		"""Ubiquitin-like modifier activating enzymes"""	621	protein-coding gene	gene with protein product		603385	"""amyloid beta precursor protein binding protein 1, 59kDa"""	APPBP1		8626687, 12740388	Standard	XM_005256215		Approved	ula-1	uc002eqf.3	Q13564	OTTHUMG00000137513	ENST00000290810.3:c.1168C>G	16.37:g.66842961G>C	ENSP00000290810:p.Leu390Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NCK0|A6NFN4|A8MU28|B2R700|B3KUP9	Missense_Mutation	SNP	pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB	p.L390V	ENST00000290810.3	37	c.1168	CCDS10820.1	16	.	.	.	.	.	.	.	.	.	.	G	14.77	2.633716	0.47049	.	.	ENSG00000159593	ENST00000359087;ENST00000290810;ENST00000379463;ENST00000394074	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	5.14	5.14	0.70334	Molybdenum cofactor biosynthesis, MoeB (1);	0.000000	0.85682	D	0.000000	T	0.66127	0.2758	M	0.79614	2.46	0.80722	D	1	B;P;P	0.42692	0.384;0.653;0.787	B;B;P	0.55824	0.275;0.235;0.785	T	0.62950	-0.6745	10	0.27082	T	0.32	-24.5741	18.2297	0.89931	0.0:0.0:1.0:0.0	.	393;390;384	A6NCK0;Q13564;A6NFN4	.;ULA1_HUMAN;.	V	393;390;384;301	ENSP00000351990:L393V;ENSP00000290810:L390V;ENSP00000368776:L384V;ENSP00000377637:L301V	ENSP00000290810:L390V	L	-	1	0	NAE1	65400462	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.354000	0.97083	2.391000	0.81399	0.650000	0.86243	CTT	NAE1	-	superfamily_Molybdenum_cofac_synth_MoeB	ENSG00000159593		0.363	NAE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NAE1	HGNC	protein_coding	OTTHUMT00000268832.1	87	0.00	0	G	NM_003905		66842961	66842961	-1	no_errors	ENST00000290810	ensembl	human	known	69_37n	missense	73	20.65	19	SNP	1.000	C
NAGK	55577	genome.wustl.edu	37	2	71305509	71305509	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:71305509C>T	ENST00000244204.6	+	10	968	c.906C>T	c.(904-906)ttC>ttT	p.F302F	NAGK_ENST00000418807.3_Silent_p.F251F|NAGK_ENST00000443938.2_Silent_p.F298F|NAGK_ENST00000443872.2_Silent_p.F154F|NAGK_ENST00000455662.2_Silent_p.F348F			Q9UJ70	NAGK_HUMAN	N-acetylglucosamine kinase	302					carbohydrate phosphorylation (GO:0046835)|N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|N-acetylglucosamine kinase activity (GO:0045127)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1)	18					N-Acetyl-D-glucosamine(DB00141)	TCTCCAGCTTCACCCTGATGA	0.587																																						dbGAP											0													74.0	63.0	67.0					2																	71305509		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ242910	CCDS33220.1, CCDS33220.2	2p24.3-p24.1	2008-02-05			ENSG00000124357	ENSG00000124357	2.7.1.59		17174	protein-coding gene	gene with protein product		606828				10824116	Standard	NM_017567		Approved	GNK	uc002shp.4	Q9UJ70	OTTHUMG00000153239	ENST00000244204.6:c.906C>T	2.37:g.71305509C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DLZ5|Q53HD5|Q6IA84|Q9BS29|Q9BVP0|Q9NV37	Missense_Mutation	SNP	pfam_ATPase_BadF	p.S320L	ENST00000244204.6	37	c.959		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.40|10.40	1.339308|1.339308	0.24339|0.24339	.|.	.|.	ENSG00000124357|ENSG00000124357	ENST00000524537|ENST00000443938	.|.	.|.	.|.	4.82|4.82	3.95|3.95	0.45737|0.45737	.|.	.|.	.|.	.|.	.|.	T|T	0.60521|0.60521	0.2275|0.2275	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.57980|0.57980	-0.7717|-0.7717	4|4	.|.	.|.	.|.	-35.6172|-35.6172	10.6102|10.6102	0.45417|0.45417	0.0:0.9069:0.0:0.0931|0.0:0.9069:0.0:0.0931	.|.	.|.	.|.	.|.	Y|L	67|320	.|.	.|.	H|S	+|+	1|2	0|0	NAGK|NAGK	71159017|71159017	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.996000|0.996000	0.88848|0.88848	3.664000|3.664000	0.54525|0.54525	1.250000|1.250000	0.43966|0.43966	0.563000|0.563000	0.77884|0.77884	CAC|TCA	NAGK	-	NULL	ENSG00000124357		0.587	NAGK-032	NOVEL	basic|appris_candidate_longest	protein_coding	NAGK	HGNC	protein_coding	OTTHUMT00000471889.1	92	0.00	0	C			71305509	71305509	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000443938	ensembl	human	novel	69_37n	missense	91	20.18	23	SNP	1.000	T
NAGPA	51172	genome.wustl.edu	37	16	5077330	5077330	+	Missense_Mutation	SNP	C	C	T	rs371454907		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:5077330C>T	ENST00000312251.3	-	8	1244	c.1225G>A	c.(1225-1227)Gag>Aag	p.E409K	RP11-165E7.1_ENST00000588778.1_RNA|NAGPA_ENST00000381955.3_Intron	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	409					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|lysosome organization (GO:0007040)|protein glycosylation (GO:0006486)|protein targeting to lysosome (GO:0006622)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity (GO:0003944)			endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	CAATGGTGCTCACACTTACAA	0.622																																						dbGAP											0													52.0	53.0	53.0					16																	5077330		2197	4300	6497	-	-	-	SO:0001583	missense	0			AF187072	CCDS10527.1	16p13.3	2008-02-05			ENSG00000103174	ENSG00000103174	3.1.4.45		17378	protein-coding gene	gene with protein product		607985				10551838, 12058031	Standard	NM_016256		Approved	APAA, UCE	uc002cyg.3	Q9UK23	OTTHUMG00000090515	ENST00000312251.3:c.1225G>A	16.37:g.5077330C>T	ENSP00000310998:p.Glu409Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAS1|Q96EJ8	Missense_Mutation	SNP	pfam_DUF2233,pfscan_EG-like_dom	p.E409K	ENST00000312251.3	37	c.1225	CCDS10527.1	16	.	.	.	.	.	.	.	.	.	.	C	23.9	4.473344	0.84640	.	.	ENSG00000103174	ENST00000312251	T	0.67523	-0.27	5.28	5.28	0.74379	.	0.206179	0.45606	D	0.000343	T	0.59824	0.2222	L	0.35593	1.075	0.80722	D	1	P	0.49559	0.925	P	0.47528	0.549	T	0.54964	-0.8214	10	0.17832	T	0.49	-44.5868	13.6678	0.62407	0.0:0.8457:0.1543:0.0	.	409	Q9UK23	NAGPA_HUMAN	K	409	ENSP00000310998:E409K	ENSP00000310998:E409K	E	-	1	0	NAGPA	5017331	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.498000	0.45363	2.465000	0.83290	0.655000	0.94253	GAG	NAGPA	-	NULL	ENSG00000103174		0.622	NAGPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAGPA	HGNC	protein_coding	OTTHUMT00000207003.1	26	0.00	0	C	NM_016256		5077330	5077330	-1	no_errors	ENST00000312251	ensembl	human	known	69_37n	missense	38	22.45	11	SNP	1.000	T
NANP	140838	genome.wustl.edu	37	20	25597039	25597039	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:25597039C>G	ENST00000304788.3	-	2	495	c.269G>C	c.(268-270)aGa>aCa	p.R90T		NM_152667.2	NP_689880.1	Q8TBE9	NANP_HUMAN	N-acetylneuraminic acid phosphatase	90					carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|N-acetylglucosamine biosynthetic process (GO:0006045)|N-acetylneuraminate biosynthetic process (GO:0046380)		N-acylneuraminate-9-phosphatase activity (GO:0050124)			endometrium(2)|lung(2)|prostate(1)	5						AGCCAATTTTCTATTGGCTGC	0.388																																						dbGAP											0													67.0	69.0	68.0					20																	25597039		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL031673	CCDS13173.1	20p11.1	2006-10-24	2006-01-24	2006-01-24	ENSG00000170191	ENSG00000170191			16140	protein-coding gene	gene with protein product		610763	"""chromosome 20 open reading frame 147"", ""haloacid dehalogenase-like hydrolase domain containing 4"""	C20orf147, HDHD4		16237198	Standard	NM_152667		Approved	dJ694B14.3, MGC26833	uc002wuy.3	Q8TBE9	OTTHUMG00000032132	ENST00000304788.3:c.269G>C	20.37:g.25597039C>G	ENSP00000302441:p.Arg90Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KP12|Q5JYN8|Q8TE97|Q9Y3N0	Missense_Mutation	SNP	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,prints_Haloacid_DH/epoxide_hydro,tigrfam_HAD-SF_hydro_IA_CTE7,tigrfam_HAD-SF_hydro_IA_v1	p.R90T	ENST00000304788.3	37	c.269	CCDS13173.1	20	.	.	.	.	.	.	.	.	.	.	C	11.37	1.617928	0.28801	.	.	ENSG00000170191	ENST00000304788	T	0.06294	3.32	5.4	5.4	0.78164	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	0.300406	0.37669	N	0.001987	T	0.06645	0.0170	L	0.55481	1.735	0.31059	N	0.714303	P	0.37955	0.612	B	0.34452	0.183	T	0.08700	-1.0709	10	0.15066	T	0.55	-13.9352	10.2166	0.43173	0.0:0.9098:0.0:0.0902	.	90	Q8TBE9	NANP_HUMAN	T	90	ENSP00000302441:R90T	ENSP00000302441:R90T	R	-	2	0	NANP	25545039	0.548000	0.26473	0.999000	0.59377	0.868000	0.49771	1.906000	0.39887	2.528000	0.85240	0.485000	0.47835	AGA	NANP	-	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IA_CTE7	ENSG00000170191		0.388	NANP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NANP	HGNC	protein_coding	OTTHUMT00000078457.2	68	0.00	0	C	NM_152667		25597039	25597039	-1	no_errors	ENST00000304788	ensembl	human	known	69_37n	missense	86	23.89	27	SNP	0.928	G
NAP1L3	4675	genome.wustl.edu	37	X	92927781	92927781	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:92927781C>A	ENST00000373079.3	-	1	786	c.523G>T	c.(523-525)Gag>Tag	p.E175*	FAM133A_ENST00000332647.4_5'Flank|FAM133A_ENST00000355813.5_5'Flank|FAM133A_ENST00000538690.1_5'Flank|FAM133A_ENST00000322139.4_5'Flank|NAP1L3_ENST00000475430.2_Nonsense_Mutation_p.E168*	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	175	Glu-rich.				nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						TGCACCTCCTCATCACTGCTG	0.458																																						dbGAP											0													83.0	68.0	73.0					X																	92927781		2203	4299	6502	-	-	-	SO:0001587	stop_gained	0				CCDS14465.1	Xq21.3-q22	2008-08-01			ENSG00000186310	ENSG00000186310			7639	protein-coding gene	gene with protein product		300117				8976385	Standard	NM_004538		Approved	MB20, NPL3, MGC26312	uc004efq.3	Q99457	OTTHUMG00000021974	ENST00000373079.3:c.523G>T	X.37:g.92927781C>A	ENSP00000362171:p.Glu175*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCM0|O60788	Nonsense_Mutation	SNP	pfam_NAP_family	p.E175*	ENST00000373079.3	37	c.523	CCDS14465.1	X	.	.	.	.	.	.	.	.	.	.	C	36	5.693657	0.96793	.	.	ENSG00000186310	ENST00000373079;ENST00000543136	.	.	.	3.66	3.66	0.41972	.	0.230767	0.21990	N	0.066162	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	12.5309	0.56115	0.0:1.0:0.0:0.0	.	.	.	.	X	175;168	.	ENSP00000362171:E175X	E	-	1	0	NAP1L3	92814437	1.000000	0.71417	0.998000	0.56505	0.934000	0.57294	2.353000	0.44089	2.109000	0.64355	0.529000	0.55759	GAG	NAP1L3	-	pfam_NAP_family	ENSG00000186310		0.458	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAP1L3	HGNC	protein_coding	OTTHUMT00000057449.1	69	0.00	0	C	NM_004538		92927781	92927781	-1	no_errors	ENST00000373079	ensembl	human	known	69_37n	nonsense	38	28.30	15	SNP	0.998	A
NAP1L4	4676	genome.wustl.edu	37	11	2985975	2985975	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:2985975C>G	ENST00000380542.4	-	8	681	c.541G>C	c.(541-543)Gat>Cat	p.D181H	SNORA54_ENST00000384281.1_RNA|NAP1L4_ENST00000526115.1_Missense_Mutation_p.D181H	NM_005969.3	NP_005960.1	Q99733	NP1L4_HUMAN	nucleosome assembly protein 1-like 4	181					nucleosome assembly (GO:0006334)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)	13		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)		ATTGGTTCATCATATTCCTAA	0.408																																						dbGAP											0													68.0	64.0	65.0					11																	2985975		1821	4073	5894	-	-	-	SO:0001583	missense	0			AA573896, BC022090, U77456	CCDS41599.1	11p15.5	2007-12-06			ENSG00000205531	ENSG00000205531			7640	protein-coding gene	gene with protein product		601651				8923002	Standard	NM_005969		Approved	NAP2	uc001lxc.3	Q99733	OTTHUMG00000011009	ENST00000380542.4:c.541G>C	11.37:g.2985975C>G	ENSP00000369915:p.Asp181His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6J4|F5HFY4	Missense_Mutation	SNP	pfam_NAP_family	p.D181H	ENST00000380542.4	37	c.541	CCDS41599.1	11	.	.	.	.	.	.	.	.	.	.	C	23.8	4.458356	0.84317	.	.	ENSG00000205531	ENST00000399624;ENST00000380542;ENST00000526115;ENST00000448187;ENST00000399614	T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63	4.57	4.57	0.56435	.	0.054595	0.64402	D	0.000001	D	0.90521	0.7030	H	0.98446	4.235	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.987;0.999	D	0.94433	0.7651	10	0.87932	D	0	-24.8643	17.5618	0.87910	0.0:1.0:0.0:0.0	.	181;181	F5HFY4;Q99733	.;NP1L4_HUMAN	H	181;181;181;193;150	ENSP00000369915:D181H;ENSP00000436397:D181H;ENSP00000387783:D193H;ENSP00000382523:D150H	ENSP00000369915:D181H	D	-	1	0	NAP1L4	2942551	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.235000	0.78143	2.376000	0.81061	0.650000	0.86243	GAT	NAP1L4	-	pfam_NAP_family	ENSG00000205531		0.408	NAP1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAP1L4	HGNC	protein_coding	OTTHUMT00000030273.3	90	0.00	0	C	NM_005969		2985975	2985975	-1	no_errors	ENST00000380542	ensembl	human	known	69_37n	missense	102	17.74	22	SNP	1.000	G
NAT10	55226	genome.wustl.edu	37	11	34160972	34160972	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:34160972C>T	ENST00000257829.3	+	23	2555	c.2349C>T	c.(2347-2349)ttC>ttT	p.F783F	NAT10_ENST00000531159.2_Silent_p.F711F|NAT10_ENST00000527971.1_Intron	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	783	Required for localization to the nucleolus and midbody.					membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				CCTACCAGTTCAGTACCTTCT	0.597																																						dbGAP											0													152.0	153.0	153.0					11																	34160972		2202	4298	6500	-	-	-	SO:0001819	synonymous_variant	0			AF489535	CCDS7889.1, CCDS44568.1	11p13	2011-11-16	2008-09-24		ENSG00000135372	ENSG00000135372	2.3.1.-		29830	protein-coding gene	gene with protein product		609221	"""N-acetyltransferase 10"""			14592445, 21177859	Standard	NM_024662		Approved	hALP, FLJ10774, FLJ12179, NET43, KIAA1709	uc001mvk.3	Q9H0A0	OTTHUMG00000166249	ENST00000257829.3:c.2349C>T	11.37:g.34160972C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DFD5|E7ESU4|E9PMN9|Q86WK5|Q9C0F4|Q9HA61|Q9NVF2	Silent	SNP	pfam_Helicase_dom,pfam_DUF1726,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.F783	ENST00000257829.3	37	c.2349	CCDS7889.1	11																																																																																			NAT10	-	NULL	ENSG00000135372		0.597	NAT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAT10	HGNC	protein_coding	OTTHUMT00000388693.1	67	0.00	0	C	NM_024662		34160972	34160972	+1	no_errors	ENST00000257829	ensembl	human	known	69_37n	silent	76	20.83	20	SNP	1.000	T
NAT10	55226	genome.wustl.edu	37	11	34163894	34163894	+	Splice_Site	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:34163894G>A	ENST00000257829.3	+	27	3090	c.2884G>A	c.(2884-2886)Gaa>Aaa	p.E962K	NAT10_ENST00000532555.1_3'UTR|NAT10_ENST00000531159.2_Splice_Site_p.E890K|NAT10_ENST00000527971.1_Intron	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	962	Required for localization to the nucleolus and midbody.					membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				GGACCTCTCTGAGTAAGGCTT	0.483																																						dbGAP											0													123.0	115.0	117.0					11																	34163894		2202	4298	6500	-	-	-	SO:0001630	splice_region_variant	0			AF489535	CCDS7889.1, CCDS44568.1	11p13	2011-11-16	2008-09-24		ENSG00000135372	ENSG00000135372	2.3.1.-		29830	protein-coding gene	gene with protein product		609221	"""N-acetyltransferase 10"""			14592445, 21177859	Standard	NM_024662		Approved	hALP, FLJ10774, FLJ12179, NET43, KIAA1709	uc001mvk.3	Q9H0A0	OTTHUMG00000166249	ENST00000257829.3:c.2885+1G>A	11.37:g.34163894G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DFD5|E7ESU4|E9PMN9|Q86WK5|Q9C0F4|Q9HA61|Q9NVF2	Missense_Mutation	SNP	pfam_Helicase_dom,pfam_DUF1726,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.E962K	ENST00000257829.3	37	c.2884	CCDS7889.1	11	.	.	.	.	.	.	.	.	.	.	G	1.991	-0.431837	0.04669	.	.	ENSG00000135372	ENST00000257829;ENST00000531159	T;T	0.26223	1.75;1.75	4.73	-0.997	0.10215	.	0.339612	0.34046	N	0.004312	T	0.14056	0.0340	N	0.13168	0.305	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.27191	-1.0081	10	0.07813	T	0.8	-1.7261	19.5501	0.95314	0.0:0.4583:0.5417:0.0	.	962	Q9H0A0	NAT10_HUMAN	K	962;890	ENSP00000257829:E962K;ENSP00000433011:E890K	ENSP00000257829:E962K	E	+	1	0	NAT10	34120470	0.472000	0.25870	0.311000	0.25182	0.374000	0.29953	0.675000	0.25232	-0.397000	0.07691	-1.204000	0.01649	GAA	NAT10	-	NULL	ENSG00000135372		0.483	NAT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAT10	HGNC	protein_coding	OTTHUMT00000388693.1	112	0.00	0	G	NM_024662	Missense_Mutation	34163894	34163894	+1	no_errors	ENST00000257829	ensembl	human	known	69_37n	missense	111	22.38	32	SNP	0.833	A
NAT9	26151	genome.wustl.edu	37	17	72771829	72771829	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:72771829C>G	ENST00000357814.3	-	2	82	c.9G>C	c.(7-9)ttG>ttC	p.L3F	NAT9_ENST00000580632.1_Missense_Mutation_p.L3F|TMEM104_ENST00000335464.5_5'Flank|TMEM104_ENST00000417024.2_5'Flank|NAT9_ENST00000582870.1_Missense_Mutation_p.L8F|TMEM104_ENST00000582330.1_5'Flank|NAT9_ENST00000583757.1_Missense_Mutation_p.L3F|NAT9_ENST00000578822.1_Missense_Mutation_p.L8F|TMEM104_ENST00000582773.1_5'Flank|NAT9_ENST00000580301.1_Missense_Mutation_p.L3F|NAT9_ENST00000581136.1_Missense_Mutation_p.L3F|NAT9_ENST00000582524.1_Missense_Mutation_p.L3F|NAT9_ENST00000583476.1_Missense_Mutation_p.L3F|NAT9_ENST00000580216.1_5'UTR	NM_015654.3	NP_056469.2	Q9BTE0	NAT9_HUMAN	N-acetyltransferase 9 (GCN5-related, putative)	3						protein complex (GO:0043234)	N-acetyltransferase activity (GO:0008080)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)	8						TGTTCTGATTCAACCTCATGG	0.552																																						dbGAP											0													160.0	111.0	127.0					17																	72771829		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.9G>C	17.37:g.72771829C>G	ENSP00000350467:p.Leu3Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7F0|Q9BTD0|Q9Y3T3	Missense_Mutation	SNP	pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase	p.L3F	ENST00000357814.3	37	c.9	CCDS11706.1	17	.	.	.	.	.	.	.	.	.	.	C	12.02	1.813478	0.32053	.	.	ENSG00000109065	ENST00000357814	T	0.50001	0.76	5.49	3.41	0.39046	Acyl-CoA N-acyltransferase (1);	0.233360	0.38005	N	0.001844	T	0.49115	0.1538	L	0.53617	1.68	0.43164	D	0.99495	P;B	0.48230	0.907;0.363	P;B	0.53593	0.73;0.144	T	0.41893	-0.9483	10	0.33940	T	0.23	-10.0167	4.9686	0.14103	0.2001:0.5823:0.1227:0.0949	.	3;3	Q9BTE0-2;Q9BTE0	.;NAT9_HUMAN	F	3	ENSP00000350467:L3F	ENSP00000350467:L3F	L	-	3	2	NAT9	70283424	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	0.879000	0.28146	0.555000	0.29079	0.655000	0.94253	TTG	NAT9	-	superfamily_Acyl_CoA_acyltransferase	ENSG00000109065		0.552	NAT9-001	KNOWN	basic|CCDS	protein_coding	NAT9	HGNC	protein_coding	OTTHUMT00000443700.1	52	0.00	0	C	NM_015654		72771829	72771829	-1	no_errors	ENST00000357814	ensembl	human	known	69_37n	missense	112	14.50	19	SNP	0.999	G
NAV1	89796	genome.wustl.edu	37	1	201777848	201777848	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:201777848G>A	ENST00000367296.4	+	20	4476	c.4056G>A	c.(4054-4056)ctG>ctA	p.L1352L	IPO9-AS1_ENST00000413035.1_RNA|MIR1231_ENST00000408101.1_RNA|NAV1_ENST00000367295.1_Silent_p.L958L|NAV1_ENST00000367302.1_Silent_p.L1305L|NAV1_ENST00000367300.3_Silent_p.L1292L|NAV1_ENST00000367297.4_Silent_p.L1344L|NAV1_ENST00000295624.6_Silent_p.L1349L	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1352					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TGGACCTGCTGAAAGCAGAGA	0.592																																						dbGAP											0													90.0	91.0	91.0					1																	201777848		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.4056G>A	1.37:g.201777848G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Silent	SNP	smart_AAA+_ATPase	p.L1352	ENST00000367296.4	37	c.4056	CCDS1414.2	1																																																																																			NAV1	-	NULL	ENSG00000134369		0.592	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAV1	HGNC	protein_coding	OTTHUMT00000087013.1	27	0.00	0	G	NM_020443		201777848	201777848	+1	no_errors	ENST00000367296	ensembl	human	known	69_37n	silent	37	22.92	11	SNP	1.000	A
NAV3	89795	genome.wustl.edu	37	12	78400972	78400972	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:78400972G>T	ENST00000397909.2	+	8	1827	c.1654G>T	c.(1654-1656)Gag>Tag	p.E552*	NAV3_ENST00000536525.2_Nonsense_Mutation_p.E552*|NAV3_ENST00000266692.7_Nonsense_Mutation_p.E552*|NAV3_ENST00000228327.6_Nonsense_Mutation_p.E552*			Q8IVL0	NAV3_HUMAN	neuron navigator 3	552						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						CAAAGAGTCTGAGAAATTCAG	0.468										HNSCC(70;0.22)																												dbGAP											0													69.0	69.0	69.0					12																	78400972		1897	4114	6011	-	-	-	SO:0001587	stop_gained	0			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.1654G>T	12.37:g.78400972G>T	ENSP00000381007:p.Glu552*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NFW7|Q9Y2E7	Nonsense_Mutation	SNP	pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.E552*	ENST00000397909.2	37	c.1654		12	.	.	.	.	.	.	.	.	.	.	G	41	8.859738	0.98980	.	.	ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	.	.	.	5.29	4.4	0.53042	.	0.000000	0.40222	U	0.001152	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-12.9977	13.8073	0.63240	0.0741:0.0:0.9259:0.0	.	.	.	.	X	552	.	ENSP00000228327:E552X	E	+	1	0	NAV3	76925103	1.000000	0.71417	0.953000	0.39169	0.969000	0.65631	3.504000	0.53347	1.229000	0.43630	0.650000	0.86243	GAG	NAV3	-	NULL	ENSG00000067798		0.468	NAV3-001	KNOWN	basic	protein_coding	NAV3	HGNC	protein_coding	OTTHUMT00000406812.1	52	0.00	0	G	NM_001024383		78400972	78400972	+1	no_errors	ENST00000397909	ensembl	human	known	69_37n	nonsense	65	16.67	13	SNP	1.000	T
NBEA	26960	genome.wustl.edu	37	13	36229053	36229053	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr13:36229053C>G	ENST00000400445.3	+	53	8568	c.8034C>G	c.(8032-8034)atC>atG	p.I2678M	NBEA_ENST00000537702.1_Missense_Mutation_p.I471M|NBEA_ENST00000310336.4_Missense_Mutation_p.I2678M|NBEA_ENST00000379922.3_Missense_Mutation_p.I256M|NBEA_ENST00000540320.1_Missense_Mutation_p.I2678M|NBEA_ENST00000379939.2_Missense_Mutation_p.I2675M	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2678					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GTATACAAATCAATGCACATT	0.363																																						dbGAP											0													110.0	103.0	105.0					13																	36229053		1863	4092	5955	-	-	-	SO:0001583	missense	0			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.8034C>G	13.37:g.36229053C>G	ENSP00000383295:p.Ile2678Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.I2678M	ENST00000400445.3	37	c.8034	CCDS45026.1	13	.	.	.	.	.	.	.	.	.	.	C	14.83	2.652486	0.47362	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518;ENST00000402346;ENST00000537702;ENST00000379922	T;T;T;T;T;T	0.72835	-0.69;-0.69;-0.69;-0.69;-0.69;-0.69	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.65544	0.2701	N	0.25332	0.735	0.80722	D	1	P;B;P	0.45531	0.86;0.317;0.581	P;B;B	0.48304	0.573;0.193;0.118	T	0.67381	-0.5685	10	0.51188	T	0.08	.	12.9894	0.58610	0.0:0.9264:0.0:0.0736	.	2678;256;2675	Q8NFP9;Q8NFP9-2;Q5T321	NBEA_HUMAN;.;.	M	2678;2678;2675;2678;1305;256;471;256	ENSP00000440951:I2678M;ENSP00000383295:I2678M;ENSP00000369271:I2675M;ENSP00000308534:I2678M;ENSP00000440233:I471M;ENSP00000369254:I256M	ENSP00000308534:I2678M	I	+	3	3	NBEA	35127053	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.843000	0.62838	2.646000	0.89796	0.655000	0.94253	ATC	NBEA	-	smart_WD40_repeat	ENSG00000172915		0.363	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	HGNC	protein_coding		93	0.00	0	C	NM_015678		36229053	36229053	+1	no_errors	ENST00000310336	ensembl	human	known	69_37n	missense	63	28.41	25	SNP	1.000	G
NBEAL1	65065	genome.wustl.edu	37	2	203980744	203980744	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:203980744C>G	ENST00000449802.1	+	17	2789	c.2456C>G	c.(2455-2457)tCt>tGt	p.S819C		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	819										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TGTCAAGAGTCTGACATGGCC	0.388																																						dbGAP											0													150.0	124.0	132.0					2																	203980744		692	1591	2283	-	-	-	SO:0001583	missense	0			AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.2456C>G	2.37:g.203980744C>G	ENSP00000399903:p.Ser819Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S819C	ENST00000449802.1	37	c.2456	CCDS46495.1	2	.	.	.	.	.	.	.	.	.	.	C	13.42	2.231852	0.39399	.	.	ENSG00000144426	ENST00000449802;ENST00000340268	T	0.56776	0.44	5.13	2.15	0.27550	Concanavalin A-like lectin/glucanase (1);	.	.	.	.	T	0.41143	0.1146	L	0.41236	1.265	0.26601	N	0.97303	B	0.09022	0.002	B	0.08055	0.003	T	0.35251	-0.9796	9	0.54805	T	0.06	.	7.101	0.25338	0.1293:0.6728:0.1253:0.0726	.	819	Q6ZS30	NBEL1_HUMAN	C	819	ENSP00000399903:S819C	ENSP00000344985:S819C	S	+	2	0	NBEAL1	203688989	1.000000	0.71417	0.961000	0.40146	0.837000	0.47467	2.857000	0.48349	0.595000	0.29777	0.467000	0.42956	TCT	NBEAL1	-	superfamily_ConA-like_lec_gl	ENSG00000144426		0.388	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL1	HGNC	protein_coding	OTTHUMT00000333982.4	106	0.00	0	C			203980744	203980744	+1	no_errors	ENST00000449802	ensembl	human	known	69_37n	missense	105	22.79	31	SNP	0.951	G
NBEAL1	65065	genome.wustl.edu	37	2	204009439	204009439	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:204009439C>G	ENST00000449802.1	+	31	5211	c.4878C>G	c.(4876-4878)atC>atG	p.I1626M		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1626										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GTCAATCAATCAAGGAACAGA	0.388																																						dbGAP											0													191.0	170.0	176.0					2																	204009439		1874	4113	5987	-	-	-	SO:0001583	missense	0			AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.4878C>G	2.37:g.204009439C>G	ENSP00000399903:p.Ile1626Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I1626M	ENST00000449802.1	37	c.4878	CCDS46495.1	2	.	.	.	.	.	.	.	.	.	.	C	11.83	1.756583	0.31137	.	.	ENSG00000144426	ENST00000449802;ENST00000340268	T	0.56776	0.44	5.8	4.92	0.64577	.	0.555815	0.20138	N	0.098434	T	0.48429	0.1499	L	0.57536	1.79	0.50632	D	0.999889	B;B	0.20780	0.048;0.048	B;B	0.14023	0.01;0.01	T	0.41179	-0.9523	10	0.33940	T	0.23	.	12.2358	0.54514	0.0:0.8577:0.0:0.1423	.	1626;1615	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	M	1626	ENSP00000399903:I1626M	ENSP00000344985:I1626M	I	+	3	3	NBEAL1	203717684	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	0.820000	0.27323	1.437000	0.47472	0.655000	0.94253	ATC	NBEAL1	-	NULL	ENSG00000144426		0.388	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL1	HGNC	protein_coding	OTTHUMT00000333982.4	156	0.00	0	C			204009439	204009439	+1	no_errors	ENST00000449802	ensembl	human	known	69_37n	missense	143	19.21	34	SNP	1.000	G
NBEAL1	65065	genome.wustl.edu	37	2	204016301	204016301	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:204016301G>C	ENST00000449802.1	+	34	5822	c.5489G>C	c.(5488-5490)aGa>aCa	p.R1830T		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1830										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						AGTGCCTTGAGAGATAATCTG	0.368																																						dbGAP											0													76.0	71.0	72.0					2																	204016301		1852	4104	5956	-	-	-	SO:0001583	missense	0			AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.5489G>C	2.37:g.204016301G>C	ENSP00000399903:p.Arg1830Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R1830T	ENST00000449802.1	37	c.5489	CCDS46495.1	2	.	.	.	.	.	.	.	.	.	.	G	25.8	4.671695	0.88348	.	.	ENSG00000144426	ENST00000449802;ENST00000340268	T	0.60171	0.21	4.86	4.86	0.63082	.	0.114885	0.64402	D	0.000011	T	0.79393	0.4438	M	0.86953	2.85	0.58432	D	0.999998	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.991	T	0.82790	-0.0283	10	0.52906	T	0.07	.	17.6324	0.88113	0.0:0.0:1.0:0.0	.	1830;1819	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	T	1830	ENSP00000399903:R1830T	ENSP00000344985:R1830T	R	+	2	0	NBEAL1	203724546	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.471000	0.97696	2.233000	0.73108	0.460000	0.39030	AGA	NBEAL1	-	NULL	ENSG00000144426		0.368	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL1	HGNC	protein_coding	OTTHUMT00000333982.4	75	0.00	0	G			204016301	204016301	+1	no_errors	ENST00000449802	ensembl	human	known	69_37n	missense	60	15.49	11	SNP	1.000	C
NBPF20	100288142	genome.wustl.edu	37	1	148343737	148343737	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:148343737C>G	ENST00000369202.1	-	4	547	c.350G>C	c.(349-351)aGa>aCa	p.R117T	NBPF20_ENST00000414710.2_Missense_Mutation_p.R117T			Q3BBV1	NBPFK_HUMAN	neuroblastoma breakpoint family, member 20	117						cytoplasm (GO:0005737)				breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	27						GGAGGCATCTCTCCCTTCCCG	0.532																																						dbGAP											0													12.0	14.0	13.0					1																	148343737		1362	2511	3873	-	-	-	SO:0001583	missense	0				CCDS72856.1	1q21.2	2014-01-16			ENSG00000203832			"""neuroblastoma breakpoint family"""	32000	protein-coding gene	gene with protein product		614007				16079250	Standard	NM_001278267		Approved			Q3BBV1	OTTHUMG00000042439	ENST00000369202.1:c.350G>C	1.37:g.148343737C>G	ENSP00000358203:p.Arg117Thr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_NBPF_dom	p.R117T	ENST00000369202.1	37	c.350		1	.	.	.	.	.	.	.	.	.	.	.	9.705	1.155652	0.21454	.	.	ENSG00000203832	ENST00000369202;ENST00000369188;ENST00000369189;ENST00000414710	T;T;T;T	0.08008	3.34;3.14;3.71;3.18	0.521	0.521	0.17046	.	.	.	.	.	T	0.11367	0.0277	.	.	.	0.22835	N	0.99868	P;P;D;P	0.59767	0.945;0.909;0.986;0.462	P;P;D;B	0.63283	0.765;0.587;0.913;0.227	T	0.06285	-1.0835	6	0.62326	D	0.03	.	.	.	.	.	42;117;117;42	Q6P3W6-2;Q6P3W6;F5H1Q5;Q5VTG7	.;NBPFA_HUMAN;.;.	T	117;117;42;117	ENSP00000358203:R117T;ENSP00000358189:R117T;ENSP00000358190:R42T;ENSP00000389520:R117T	ENSP00000358189:R117T	R	-	2	0	NBPF20	146710361	0.122000	0.22280	0.028000	0.17463	0.034000	0.12701	-0.290000	0.08354	0.529000	0.28599	0.184000	0.17185	AGA	NBPF20	-	NULL	ENSG00000203832		0.532	NBPF20-001	KNOWN	basic|appris_principal	protein_coding	NBPF20	HGNC	protein_coding	OTTHUMT00000100689.2	110	0.00	0	C			148343737	148343737	-1	no_errors	ENST00000369202	ensembl	human	known	69_37n	missense	77	22.22	22	SNP	0.032	G
NCAM1	4684	genome.wustl.edu	37	11	113146014	113146014	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:113146014G>C	ENST00000316851.7	+	18	2452	c.2452G>C	c.(2452-2454)Gag>Cag	p.E818Q	NCAM1-AS1_ENST00000526229.1_RNA|NCAM1_ENST00000397957.4_3'UTR|NCAM1-AS1_ENST00000533638.1_RNA	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	828					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AGCAAAGCCAGAGTGCCAGGA	0.572																																						dbGAP											0													60.0	79.0	73.0					11																	113146014		2093	4227	6320	-	-	-	SO:0001583	missense	0				CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000316851.7:c.2452G>C	11.37:g.113146014G>C	ENSP00000318472:p.Glu818Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,prints_Neural_cell_adh,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E818Q	ENST00000316851.7	37	c.2452		11	.	.	.	.	.	.	.	.	.	.	G	9.917	1.211249	0.22289	.	.	ENSG00000149294	ENST00000316851;ENST00000433634	T	0.47869	0.83	5.33	5.33	0.75918	.	2.836270	0.03253	U	0.182165	T	0.42494	0.1205	.	.	.	0.09310	N	1	B;B;B	0.17667	0.023;0.018;0.01	B;B;B	0.15870	0.011;0.014;0.006	T	0.19353	-1.0308	9	0.44086	T	0.13	.	12.5095	0.55999	0.0756:0.0:0.9244:0.0	.	283;818;828	B4DSQ7;P13591-1;P13591	.;.;NCAM1_HUMAN	Q	818;283	ENSP00000318472:E818Q	ENSP00000318472:E818Q	E	+	1	0	NCAM1	112651224	0.944000	0.32072	0.895000	0.35142	0.955000	0.61496	4.323000	0.59221	2.775000	0.95449	0.655000	0.94253	GAG	NCAM1	-	NULL	ENSG00000149294		0.572	NCAM1-201	KNOWN	basic	protein_coding	NCAM1	HGNC	protein_coding		82	0.00	0	G	NM_000615		113146014	113146014	+1	no_errors	ENST00000316851	ensembl	human	known	69_37n	missense	32	48.39	30	SNP	0.102	C
NCAN	1463	genome.wustl.edu	37	19	19338413	19338413	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:19338413G>A	ENST00000252575.6	+	8	2083	c.1984G>A	c.(1984-1986)Gag>Aag	p.E662K	NCAN_ENST00000538881.1_Missense_Mutation_p.E113K	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	662					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	GGCACATGGTGAGGCCACCGC	0.607																																						dbGAP											0													88.0	90.0	89.0					19																	19338413		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.1984G>A	19.37:g.19338413G>A	ENSP00000252575:p.Glu662Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UPK6	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_Ig_V-set,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EGF-like_Ca-bd,smart_EGF-like,smart_C-type_lectin,smart_Sushi_SCR_CCP,prints_Link,prints_AntifreezeII,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like	p.E662K	ENST00000252575.6	37	c.1984	CCDS12397.1	19	.	.	.	.	.	.	.	.	.	.	G	10.41	1.341929	0.24339	.	.	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	D;D	0.86297	-1.87;-2.1	3.57	1.39	0.22231	.	0.651748	0.12693	N	0.447055	T	0.75384	0.3842	L	0.27053	0.805	0.09310	N	1	B;B	0.25235	0.121;0.002	B;B	0.15484	0.013;0.005	T	0.61212	-0.7108	10	0.35671	T	0.21	-7.2864	5.9691	0.19342	0.2467:0.0:0.7533:0.0	.	676;662	Q4LE67;O14594	.;NCAN_HUMAN	K	676;662;113	ENSP00000252575:E662K;ENSP00000442202:E113K	ENSP00000252575:E662K	E	+	1	0	NCAN	19199413	0.063000	0.20901	0.004000	0.12327	0.009000	0.06853	0.556000	0.23438	0.327000	0.23409	0.561000	0.74099	GAG	NCAN	-	NULL	ENSG00000130287		0.607	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAN	HGNC	protein_coding	OTTHUMT00000460111.2	43	0.00	0	G	NM_004386		19338413	19338413	+1	no_errors	ENST00000252575	ensembl	human	known	69_37n	missense	26	18.75	6	SNP	0.002	A
NCAPG2	54892	genome.wustl.edu	37	7	158447914	158447914	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:158447914C>T	ENST00000409423.1	-	22	2714	c.2542G>A	c.(2542-2544)Gaa>Aaa	p.E848K	NCAPG2_ENST00000409339.3_Missense_Mutation_p.E848K|NCAPG2_ENST00000541468.1_Missense_Mutation_p.E349K|NCAPG2_ENST00000275830.10_Missense_Mutation_p.E640K|NCAPG2_ENST00000356309.3_Missense_Mutation_p.E848K|NCAPG2_ENST00000449727.2_Missense_Mutation_p.E848K	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	848					chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		CCAGTGTCTTCCAACATGGAC	0.353																																						dbGAP											0													98.0	100.0	100.0					7																	158447914		1887	4109	5996	-	-	-	SO:0001583	missense	0			BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918			21904	protein-coding gene	gene with protein product		608532	"""leucine zipper protein 5"""	LUZP5		14532007	Standard	NM_001281933		Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409423.1:c.2542G>A	7.37:g.158447914C>T	ENSP00000386569:p.Glu848Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Nonsense_Mutation	SNP	pfam_Condensin2_G2,superfamily_ARM-type_fold	p.W649*	ENST00000409423.1	37	c.1947	CCDS43686.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.19|15.19	2.758564|2.758564	0.49468|0.49468	.|.	.|.	ENSG00000146918|ENSG00000146918	ENST00000541468;ENST00000356309;ENST00000409423;ENST00000275830;ENST00000409339;ENST00000545393;ENST00000449727|ENST00000441982	T;T;T;T;T;T|.	0.35236|.	1.32;1.34;1.34;1.35;1.33;1.33|.	5.35|5.35	3.05|3.05	0.35203|0.35203	.|.	0.195365|.	0.52532|.	D|.	0.000067|.	T|.	0.55162|.	0.1903|.	M|M	0.61703|0.61703	1.905|1.905	0.34453|0.34453	D|D	0.700894|0.700894	B;B;B;B|.	0.26902|.	0.031;0.163;0.002;0.018|.	B;B;B;B|.	0.24974|.	0.057;0.024;0.003;0.025|.	T|.	0.61217|.	-0.7107|.	10|.	0.46703|.	T|.	0.11|.	-6.26|-6.26	7.7494|7.7494	0.28888|0.28888	0.0:0.6727:0.1244:0.2029|0.0:0.6727:0.1244:0.2029	.|.	848;291;640;848|.	Q86XI2-2;B4DHE5;E7EUH9;Q86XI2|.	.;.;.;CNDG2_HUMAN|.	K|X	349;848;848;640;848;291;848|649	ENSP00000442337:E349K;ENSP00000348657:E848K;ENSP00000386569:E848K;ENSP00000275830:E640K;ENSP00000387007:E848K;ENSP00000388326:E848K|.	ENSP00000275830:E640K|.	E|W	-|-	1|3	0|0	NCAPG2|NCAPG2	158140675|158140675	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.984000|0.984000	0.73092|0.73092	0.822000|0.822000	0.27352|0.27352	0.376000|0.376000	0.24707|0.24707	0.491000|0.491000	0.48974|0.48974	GAA|TGG	NCAPG2	-	NULL	ENSG00000146918		0.353	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NCAPG2	HGNC	protein_coding	OTTHUMT00000327111.1	37	0.00	0	C	NM_017760		158447914	158447914	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000441982	ensembl	human	known	69_37n	nonsense	27	20.59	7	SNP	1.000	T
NCAPG2	54892	genome.wustl.edu	37	7	158486140	158486140	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:158486140G>C	ENST00000409423.1	-	4	300	c.128C>G	c.(127-129)tCa>tGa	p.S43*	NCAPG2_ENST00000479022.1_5'UTR|NCAPG2_ENST00000409339.3_Nonsense_Mutation_p.S43*|NCAPG2_ENST00000356309.3_Nonsense_Mutation_p.S43*|NCAPG2_ENST00000449727.2_Nonsense_Mutation_p.S43*	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	43					chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		CTGTTTCCTTGATAATTCATC	0.368																																						dbGAP											0													120.0	111.0	114.0					7																	158486140		1843	4093	5936	-	-	-	SO:0001587	stop_gained	0			BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918			21904	protein-coding gene	gene with protein product		608532	"""leucine zipper protein 5"""	LUZP5		14532007	Standard	NM_001281933		Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409423.1:c.128C>G	7.37:g.158486140G>C	ENSP00000386569:p.Ser43*	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Nonsense_Mutation	SNP	pfam_Condensin2_G2,superfamily_ARM-type_fold	p.S43*	ENST00000409423.1	37	c.128	CCDS43686.1	7	.	.	.	.	.	.	.	.	.	.	G	37	6.018031	0.97205	.	.	ENSG00000146918	ENST00000356309;ENST00000409423;ENST00000409339;ENST00000449727	.	.	.	5.0	5.0	0.66597	.	0.152964	0.45867	D	0.000328	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-15.6346	17.2254	0.86969	0.0:0.0:1.0:0.0	.	.	.	.	X	43	.	ENSP00000348657:S43X	S	-	2	0	NCAPG2	158178901	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.557000	0.73937	2.493000	0.84123	0.655000	0.94253	TCA	NCAPG2	-	superfamily_ARM-type_fold	ENSG00000146918		0.368	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NCAPG2	HGNC	protein_coding	OTTHUMT00000327111.1	149	0.00	0	G	NM_017760		158486140	158486140	-1	no_errors	ENST00000409339	ensembl	human	known	69_37n	nonsense	151	17.39	32	SNP	1.000	C
NCAPH2	29781	genome.wustl.edu	37	22	50960202	50960202	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:50960202G>A	ENST00000420993.2	+	12	1155	c.1033G>A	c.(1033-1035)Gag>Aag	p.E345K	NCAPH2_ENST00000299821.11_Missense_Mutation_p.E345K|CTA-384D8.36_ENST00000608319.1_RNA|NCAPH2_ENST00000395701.3_Missense_Mutation_p.E345K|NCAPH2_ENST00000520297.1_3'UTR	NM_001185011.1|NM_152299.3	NP_001171940.1|NP_689512.2	Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2	345					chromosome condensation (GO:0030261)|mitotic cell cycle (GO:0000278)	chromosome (GO:0005694)|membrane (GO:0016020)|nucleoplasm (GO:0005654)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		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;0.212)		CTGTGTGGAGGAGGCTCTGGG	0.642																																						dbGAP											0													65.0	62.0	63.0					22																	50960202		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC001937	CCDS14094.2, CCDS43038.1, CCDS54546.1	22q13.33	2008-02-04			ENSG00000025770	ENSG00000025770			25071	protein-coding gene	gene with protein product	"""kleisin beta"", ""CAP-H2 subunit of the condensin II complex"""	611230				10493829	Standard	NM_014551		Approved	384D8-2, hCAP-H2, CAP-H2	uc003blx.4	Q6IBW4	OTTHUMG00000150205	ENST00000420993.2:c.1033G>A	22.37:g.50960202G>A	ENSP00000410088:p.Glu345Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7WPH1|O43788|Q13391|Q96C14|Q96GJ0|Q9BQ71|Q9BUT3|Q9BVD1	Missense_Mutation	SNP	pfam_Condensin_II_H2-like	p.E345K	ENST00000420993.2	37	c.1033	CCDS14094.2	22	.	.	.	.	.	.	.	.	.	.	G	26.2	4.715160	0.89112	.	.	ENSG00000025770	ENST00000420993;ENST00000395701;ENST00000299821	.	.	.	4.7	4.7	0.59300	.	0.321942	0.27168	N	0.020603	T	0.75406	0.3845	L	0.59436	1.845	0.48341	D	0.999634	D;D;D;D	0.76494	0.997;0.998;0.998;0.999	D;D;D;D	0.83275	0.922;0.994;0.994;0.996	T	0.74802	-0.3541	9	0.38643	T	0.18	-25.3075	16.1893	0.81975	0.0:0.0:1.0:0.0	.	345;345;323;345	G3XAG4;Q6IBW4-4;Q6IBW4-2;Q6IBW4	.;.;.;CNDH2_HUMAN	K	345	.	ENSP00000299821:E345K	E	+	1	0	NCAPH2	49307068	0.999000	0.42202	0.999000	0.59377	0.801000	0.45260	4.885000	0.63142	2.170000	0.68504	0.491000	0.48974	GAG	NCAPH2	-	pfam_Condensin_II_H2-like	ENSG00000025770		0.642	NCAPH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NCAPH2	HGNC	protein_coding	OTTHUMT00000317012.1	50	0.00	0	G	NM_152299		50960202	50960202	+1	no_errors	ENST00000299821	ensembl	human	known	69_37n	missense	51	34.62	27	SNP	0.998	A
NCBP1	4686	genome.wustl.edu	37	9	100424412	100424412	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:100424412C>T	ENST00000375147.3	+	17	1945	c.1689C>T	c.(1687-1689)ttC>ttT	p.F563F		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	563					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of viral transcription (GO:0050434)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|mRNA cap binding complex (GO:0005845)|nuclear cap binding complex (GO:0005846)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA cap binding (GO:0000339)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				GCCACTCCTTCAGTGCTCTTG	0.383																																					Ovarian(36;879 898 2893 44212 50307)	dbGAP											0													71.0	69.0	70.0					9																	100424412		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC001450	CCDS6728.1	9q34.1	2010-01-26	2002-08-29		ENSG00000136937	ENSG00000136937			7658	protein-coding gene	gene with protein product		600469	"""nuclear cap binding protein subunit 1, 80kD"""	NCBP		7937105, 8812508	Standard	NM_002486		Approved	CBP80, Sto1	uc004axq.3	Q09161	OTTHUMG00000020332	ENST00000375147.3:c.1689C>T	9.37:g.100424412C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R718|Q59G76|Q5T1V0|Q5T7X2	Silent	SNP	pfam_MIF4G-like_typ-2,pfam_MIF4G-like_typ-1,pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	p.F563	ENST00000375147.3	37	c.1689	CCDS6728.1	9																																																																																			NCBP1	-	pfam_MIF4G-like_typ-2,superfamily_ARM-type_fold	ENSG00000136937		0.383	NCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCBP1	HGNC	protein_coding	OTTHUMT00000053337.1	83	0.00	0	C	NM_002486		100424412	100424412	+1	no_errors	ENST00000375147	ensembl	human	known	69_37n	silent	83	19.42	20	SNP	1.000	T
NCBP2	22916	genome.wustl.edu	37	3	196663913	196663913	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:196663913C>G	ENST00000321256.5	-	4	533	c.440G>C	c.(439-441)gGa>gCa	p.G147A	NCBP2_ENST00000447325.1_Missense_Mutation_p.G77A|NCBP2_ENST00000452404.2_Missense_Mutation_p.G129A|NCBP2_ENST00000467803.1_5'UTR|NCBP2_ENST00000422610.1_Missense_Mutation_p.G77A|NCBP2_ENST00000427641.2_Missense_Mutation_p.G94A|NCBP2-AS1_ENST00000447775.1_RNA	NM_007362.3	NP_031388.2	P52298	NCBP2_HUMAN	nuclear cap binding protein subunit 2, 20kDa	147					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of RNA export from nucleus (GO:0046833)|positive regulation of viral transcription (GO:0050434)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|snRNA export from nucleus (GO:0006408)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mRNA cap binding complex (GO:0005845)|nuclear cap binding complex (GO:0005846)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|RNA cap binding (GO:0000339)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.42e-24)|all cancers(36;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(49;4.13e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00551)		TCCATAGCCTCCTCTCCCAGC	0.453																																						dbGAP											0													191.0	161.0	171.0					3																	196663913		2203	4300	6503	-	-	-	SO:0001583	missense	0			D59253	CCDS3323.1, CCDS46986.1	3q29	2013-02-12	2002-08-29		ENSG00000114503	ENSG00000114503		"""RNA binding motif (RRM) containing"""	7659	protein-coding gene	gene with protein product		605133	"""nuclear cap binding protein subunit 2, 20kD"""			7478990, 7651522, 8682299	Standard	NM_001042540		Approved	NIP1, CBP20, Cbc2	uc003fxd.1	P52298	OTTHUMG00000155520	ENST00000321256.5:c.440G>C	3.37:g.196663913C>G	ENSP00000326806:p.Gly147Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RE91|B4DMK7|E9PAR5|Q14924|Q2TS50	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.G147A	ENST00000321256.5	37	c.440	CCDS3323.1	3	.	.	.	.	.	.	.	.	.	.	C	24.7	4.557823	0.86231	.	.	ENSG00000114503	ENST00000447325;ENST00000321256;ENST00000427641;ENST00000452404;ENST00000422610;ENST00000411704	T;T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07;-1.07	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	D	0.91703	0.7377	H	0.95745	3.715	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.998	D;D;D	0.97110	0.999;1.0;0.998	D	0.93850	0.7144	10	0.87932	D	0	.	17.6266	0.88095	0.0:1.0:0.0:0.0	.	129;94;147	P52298-2;E9PAR5;P52298	.;.;NCBP2_HUMAN	A	77;147;94;129;77;77	ENSP00000413518:G77A;ENSP00000326806:G147A;ENSP00000397619:G94A;ENSP00000412785:G129A;ENSP00000394105:G77A;ENSP00000389315:G77A	ENSP00000326806:G147A	G	-	2	0	NCBP2	198148310	1.000000	0.71417	0.966000	0.40874	0.684000	0.39900	5.494000	0.66905	2.725000	0.93324	0.655000	0.94253	GGA	NCBP2	-	NULL	ENSG00000114503		0.453	NCBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCBP2	HGNC	protein_coding	OTTHUMT00000340470.2	138	0.00	0	C	NM_007362		196663913	196663913	-1	no_errors	ENST00000321256	ensembl	human	known	69_37n	missense	114	15.56	21	SNP	1.000	G
NCF2	4688	genome.wustl.edu	37	1	183536371	183536371	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:183536371C>G	ENST00000367535.3	-	8	1074	c.823G>C	c.(823-825)Gat>Cat	p.D275H	NCF2_ENST00000413720.1_Missense_Mutation_p.D230H|NCF2_ENST00000418089.1_Missense_Mutation_p.D194H|NCF2_ENST00000367536.1_Missense_Mutation_p.D275H	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	275	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				aging (GO:0007568)|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)|cellular defense response (GO:0006968)|cellular response to hormone stimulus (GO:0032870)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron apoptotic process (GO:0043525)|respiratory burst (GO:0045730)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hyperoxia (GO:0055093)|response to laminar fluid shear stress (GO:0034616)|response to lipopolysaccharide (GO:0032496)|response to progesterone (GO:0032570)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|NADPH oxidase complex (GO:0043020)|nucleolus (GO:0005730)|phagolysosome (GO:0032010)	electron carrier activity (GO:0009055)|protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30					Dextromethorphan(DB00514)	GCCCAGTTATCATTGCCCTTC	0.542																																						dbGAP											0													289.0	254.0	266.0					1																	183536371		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC001606	CCDS1356.1, CCDS53446.1, CCDS53447.1	1q25	2014-09-17	2008-07-31		ENSG00000116701	ENSG00000116701		"""Tetratricopeptide (TTC) repeat domain containing"""	7661	protein-coding gene	gene with protein product	"""NADPH oxidase activator 2"", ""chronic granulomatous disease, autosomal 2"""	608515	"""neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2)"""				Standard	NM_000433		Approved	p67phox, NOXA2	uc001gqk.4	P19878	OTTHUMG00000035329	ENST00000367535.3:c.823G>C	1.37:g.183536371C>G	ENSP00000356505:p.Asp275His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6Q1|B4DKQ7|B4DQA7|E9PHJ2|E9PHX3|Q2PP06|Q8NFC7|Q9BV51	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_TPR-1,pfam_OPR_PB1,superfamily_SH3_domain,smart_TPR_repeat,smart_SH3_domain,smart_OPR_PB1,pfscan_SH3_domain,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_p67phox,prints_SH3_domain	p.D275H	ENST00000367535.3	37	c.823	CCDS1356.1	1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.824274	0.90955	.	.	ENSG00000116701	ENST00000367536;ENST00000392014;ENST00000413720;ENST00000418089;ENST00000367535;ENST00000419402	T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3	5.37	5.37	0.77165	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.69043	0.3067	M	0.89968	3.075	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.75986	-0.3124	10	0.72032	D	0.01	-21.6017	19.116	0.93340	0.0:1.0:0.0:0.0	.	194;230;275	E9PHJ2;E9PHX3;P19878	.;.;NCF2_HUMAN	H	275;347;230;194;275;14	ENSP00000356506:D275H;ENSP00000399294:D230H;ENSP00000407217:D194H;ENSP00000356505:D275H;ENSP00000406198:D14H	ENSP00000356505:D275H	D	-	1	0	NCF2	181802994	1.000000	0.71417	0.867000	0.34043	0.986000	0.74619	7.099000	0.76981	2.535000	0.85469	0.561000	0.74099	GAT	NCF2	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox	ENSG00000116701		0.542	NCF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NCF2	HGNC	protein_coding	OTTHUMT00000085483.1	113	0.00	0	C	NM_000433		183536371	183536371	-1	no_errors	ENST00000367535	ensembl	human	known	69_37n	missense	121	38.58	76	SNP	1.000	G
NCF4	4689	genome.wustl.edu	37	22	37272009	37272009	+	Intron	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:37272009C>A	ENST00000248899.6	+	9	942				NCF4_ENST00000397147.4_Missense_Mutation_p.F314L	NM_000631.4	NP_000622.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa						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)|immune response (GO:0006955)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|positive regulation of catalytic activity (GO:0043085)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|membrane (GO:0016020)|NADPH oxidase complex (GO:0043020)|phagolysosome (GO:0032010)	phosphatidylinositol-3-phosphate binding (GO:0032266)|protein dimerization activity (GO:0046983)|superoxide-generating NADPH oxidase activator activity (GO:0016176)			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16					Dextromethorphan(DB00514)	ATTCCCCTTTCCCCCACCCCA	0.617																																						dbGAP											0													36.0	34.0	35.0					22																	37272009		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			X77094	CCDS13934.1, CCDS13935.1	22q13.1	2014-09-17	2002-08-29		ENSG00000100365	ENSG00000100365			7662	protein-coding gene	gene with protein product	"""neutrophil NADPH oxidase factor 4"""	601488	"""neutrophil cytosolic factor 4 (40kD)"""			8839867	Standard	NM_013416		Approved	p40phox, SH3PXD4	uc003apy.4	Q15080	OTTHUMG00000150548	ENST00000248899.6:c.759-62C>A	22.37:g.37272009C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4F9|O60808|Q86U56|Q9BU98|Q9NP45	Missense_Mutation	SNP	pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,prints_NCF_P40,prints_p67phox,pfscan_Phox,pfscan_SH3_domain	p.F314L	ENST00000248899.6	37	c.942	CCDS13934.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.612|7.612	0.675105|0.675105	0.14841|0.14841	.|.	.|.	ENSG00000100365|ENSG00000100365	ENST00000397147|ENST00000415063	T|.	0.56444|.	0.46|.	1.56|1.56	0.416|0.416	0.16416|0.16416	.|.	5.307850|.	0.00397|.	N|.	0.000045|.	T|T	0.31136|0.31136	0.0787|0.0787	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.26950|0.26950	-1.0088|-1.0088	8|4	.|.	.|.	.|.	-6.7425|-6.7425	6.6612|6.6612	0.23014|0.23014	0.0:0.8088:0.0:0.1912|0.0:0.8088:0.0:0.1912	.|.	314|.	A8K4F9|.	.|.	L|T	314|178	ENSP00000380334:F314L|.	.|.	F|P	+|+	3|1	2|0	NCF4|NCF4	35601955|35601955	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	-0.728000|-0.728000	0.04925|0.04925	-0.145000|-0.145000	0.11294|0.11294	-1.601000|-1.601000	0.00813|0.00813	TTC|CCC	NCF4	-	NULL	ENSG00000100365		0.617	NCF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCF4	HGNC	protein_coding	OTTHUMT00000318863.1	16	0.00	0	C	NM_000631		37272009	37272009	+1	no_errors	ENST00000397147	ensembl	human	known	69_37n	missense	40	25.93	14	SNP	0.000	A
NCKIPSD	51517	genome.wustl.edu	37	3	48719798	48719798	+	Missense_Mutation	SNP	C	C	G	rs142303111		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:48719798C>G	ENST00000294129.2	-	3	588	c.469G>C	c.(469-471)Gat>Cat	p.D157H	NCKIPSD_ENST00000341520.4_Missense_Mutation_p.D157H|NCKIPSD_ENST00000416649.2_Missense_Mutation_p.D157H	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	157					cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|NLS-bearing protein import into nucleus (GO:0006607)|signal transduction (GO:0007165)	cytosol (GO:0005829)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	cytoskeletal protein binding (GO:0008092)			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGGCCTCCATCTGCCCCAAGA	0.612																																						dbGAP											0													112.0	119.0	116.0					3																	48719798		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF178432	CCDS2776.1, CCDS46827.1	3p21	2008-07-18			ENSG00000213672	ENSG00000213672			15486	protein-coding gene	gene with protein product	"""dia interacting protein"", ""diaphanous protein interacting protein"", ""SH3 protein interacting with Nck, 90 kDa"""	606671				10648423, 10619843	Standard	NM_016453		Approved	AF3P21, SPIN90, ORF1, WISH, WASLBP, DIP1	uc003cun.3	Q9NZQ3	OTTHUMG00000133542	ENST00000294129.2:c.469G>C	3.37:g.48719798C>G	ENSP00000294129:p.Asp157His	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DFL5|Q6GU34|Q6SPF3|Q8TC10|Q9UGM8	Missense_Mutation	SNP	pfam_DUF2013,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.D157H	ENST00000294129.2	37	c.469	CCDS2776.1	3	.	.	.	.	.	.	.	.	.	.	C	19.32	3.804697	0.70682	.	.	ENSG00000213672	ENST00000341520;ENST00000416649;ENST00000294129;ENST00000439518;ENST00000453349;ENST00000426678	T;T;T;T	0.49720	0.77;1.35;1.38;1.35	4.47	4.47	0.54385	.	0.114996	0.42548	U	0.000681	T	0.63721	0.2535	L	0.60455	1.87	0.53005	D	0.999961	D;D;D	0.89917	1.0;0.987;0.992	D;P;P	0.65573	0.936;0.753;0.875	T	0.65446	-0.6166	10	0.45353	T	0.12	-1.4046	17.1447	0.86763	0.0:1.0:0.0:0.0	.	157;157;157	C9JSC3;Q9NZQ3;Q9NZQ3-3	.;SPN90_HUMAN;.	H	157;157;157;157;79;41	ENSP00000342621:D157H;ENSP00000389059:D157H;ENSP00000294129:D157H;ENSP00000409675:D157H	ENSP00000294129:D157H	D	-	1	0	NCKIPSD	48694802	1.000000	0.71417	0.043000	0.18650	0.807000	0.45602	5.208000	0.65203	2.012000	0.59069	0.655000	0.94253	GAT	NCKIPSD	-	NULL	ENSG00000213672		0.612	NCKIPSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCKIPSD	HGNC	protein_coding	OTTHUMT00000257520.1	52	0.00	0	C	NM_016453		48719798	48719798	-1	no_errors	ENST00000294129	ensembl	human	known	69_37n	missense	75	11.76	10	SNP	0.919	G
NCL	4691	genome.wustl.edu	37	2	232319972	232319972	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:232319972C>T	ENST00000322723.4	-	14	2303	c.2063G>A	c.(2062-2064)gGa>gAa	p.G688E	SNORA75_ENST00000384158.1_RNA|SNORD20_ENST00000384550.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	688	Arg/Gly/Phe-rich.				angiogenesis (GO:0001525)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)	cell cortex (GO:0005938)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		TCGGAAGCCTCCTCGCCCTAC	0.522																																						dbGAP											0													106.0	98.0	101.0					2																	232319972		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33397.1	2q37.1	2013-09-19			ENSG00000115053	ENSG00000115053		"""RNA binding motif (RRM) containing"""	7667	protein-coding gene	gene with protein product		164035				2394707, 3409881	Standard	NM_005381		Approved	C23	uc002vru.3	P19338	OTTHUMG00000153866	ENST00000322723.4:c.2063G>A	2.37:g.232319972C>T	ENSP00000318195:p.Gly688Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom	p.G688E	ENST00000322723.4	37	c.2063	CCDS33397.1	2	.	.	.	.	.	.	.	.	.	.	C	15.12	2.739799	0.49045	.	.	ENSG00000115053	ENST00000322723;ENST00000392033;ENST00000322732	T	0.61040	0.14	5.39	5.39	0.77823	.	0.131417	0.52532	D	0.000069	T	0.80121	0.4565	M	0.88775	2.98	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.83351	-0.0003	10	0.87932	D	0	-21.5472	16.5197	0.84310	0.0:1.0:0.0:0.0	.	688	P19338	NUCL_HUMAN	E	688;580;460	ENSP00000318195:G688E	ENSP00000318195:G688E	G	-	2	0	NCL	232028216	1.000000	0.71417	0.962000	0.40283	0.114000	0.19823	4.705000	0.61838	2.820000	0.97059	0.650000	0.86243	GGA	NCL	-	NULL	ENSG00000115053		0.522	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCL	HGNC	protein_coding	OTTHUMT00000332731.1	113	0.00	0	C	NM_005381		232319972	232319972	-1	no_errors	ENST00000322723	ensembl	human	known	69_37n	missense	113	16.30	22	SNP	0.989	T
NCOA1	8648	genome.wustl.edu	37	2	24896236	24896236	+	Splice_Site	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:24896236G>C	ENST00000406961.1	+	7	910	c.258G>C	c.(256-258)gaG>gaC	p.E86D	NCOA1_ENST00000538539.1_Splice_Site_p.E86D|RNU6-936P_ENST00000384005.1_RNA|NCOA1_ENST00000348332.3_Splice_Site_p.E86D|NCOA1_ENST00000288599.5_Splice_Site_p.E86D|NCOA1_ENST00000395856.3_Splice_Site_p.E86D|NCOA1_ENST00000407230.1_5'UTR|NCOA1_ENST00000405141.1_Splice_Site_p.E86D			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	86					androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTATTATAGAGAAATCAACAA	0.333			T	PAX3	alveolar rhadomyosarcoma																																	dbGAP		Dom	yes		2	2p23	8648	nuclear receptor coactivator 1		M	0													69.0	73.0	72.0					2																	24896236		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.257-1G>C	2.37:g.24896236G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Missense_Mutation	SNP	pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_Nuc_rcpt_coact,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_HLH_DNA-bd	p.E86D	ENST00000406961.1	37	c.258	CCDS1712.1	2	.	.	.	.	.	.	.	.	.	.	G	15.85	2.956154	0.53293	.	.	ENSG00000084676	ENST00000406961;ENST00000405141;ENST00000538539;ENST00000348332;ENST00000288599;ENST00000395856	D;D;D;D;D;D	0.97688	-4.49;-4.49;-4.49;-4.49;-4.49;-4.49	4.64	2.83	0.33086	Helix-loop-helix DNA-binding (3);	0.052726	0.85682	D	0.000000	D	0.96839	0.8968	L	0.34521	1.04	0.53005	D	0.999967	D;B;P	0.67145	0.996;0.259;0.951	D;B;D	0.76071	0.987;0.105;0.91	D	0.94169	0.7421	10	0.27082	T	0.32	.	9.1381	0.36886	0.2439:0.0:0.7561:0.0	.	86;86;86	Q15788-3;Q15788;Q15788-2	.;NCOA1_HUMAN;.	D	86	ENSP00000385216:E86D;ENSP00000385097:E86D;ENSP00000444039:E86D;ENSP00000320940:E86D;ENSP00000288599:E86D;ENSP00000379197:E86D	ENSP00000288599:E86D	E	+	3	2	NCOA1	24749740	0.997000	0.39634	1.000000	0.80357	0.874000	0.50279	0.392000	0.20801	0.557000	0.29117	0.561000	0.74099	GAG	NCOA1	-	superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pirsf_Nuclear_rcpt_coactivator	ENSG00000084676		0.333	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCOA1	HGNC	protein_coding	OTTHUMT00000246852.3	71	0.00	0	G	NM_147223	Missense_Mutation	24896236	24896236	+1	no_errors	ENST00000348332	ensembl	human	known	69_37n	missense	40	31.03	18	SNP	1.000	C
NCL	4691	genome.wustl.edu	37	2	232320147	232320147	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:232320147C>A	ENST00000322723.4	-	13	2261	c.2021G>T	c.(2020-2022)gGa>gTa	p.G674V	SNORA75_ENST00000384158.1_RNA|SNORD20_ENST00000384550.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	674	Arg/Gly/Phe-rich.				angiogenesis (GO:0001525)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)	cell cortex (GO:0005938)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		ACCAAATCCTCCTCGGCCTCC	0.607																																						dbGAP											0													164.0	169.0	167.0					2																	232320147		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33397.1	2q37.1	2013-09-19			ENSG00000115053	ENSG00000115053		"""RNA binding motif (RRM) containing"""	7667	protein-coding gene	gene with protein product		164035				2394707, 3409881	Standard	NM_005381		Approved	C23	uc002vru.3	P19338	OTTHUMG00000153866	ENST00000322723.4:c.2021G>T	2.37:g.232320147C>A	ENSP00000318195:p.Gly674Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom	p.G674V	ENST00000322723.4	37	c.2021	CCDS33397.1	2	.	.	.	.	.	.	.	.	.	.	C	25.1	4.599286	0.87055	.	.	ENSG00000115053	ENST00000322723;ENST00000392033;ENST00000322732	T	0.74106	-0.81	5.77	5.77	0.91146	.	0.281820	0.33235	N	0.005134	D	0.87916	0.6298	M	0.86805	2.84	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.86408	0.1746	10	0.33141	T	0.24	-16.2677	18.6192	0.91315	0.0:1.0:0.0:0.0	.	674	P19338	NUCL_HUMAN	V	674;566;446	ENSP00000318195:G674V	ENSP00000318195:G674V	G	-	2	0	NCL	232028391	1.000000	0.71417	0.992000	0.48379	0.883000	0.51084	6.985000	0.76193	2.751000	0.94390	0.650000	0.86243	GGA	NCL	-	NULL	ENSG00000115053		0.607	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCL	HGNC	protein_coding	OTTHUMT00000332731.1	122	0.81	1	C	NM_005381		232320147	232320147	-1	no_errors	ENST00000322723	ensembl	human	known	69_37n	missense	110	14.06	18	SNP	1.000	A
NCOA2	10499	genome.wustl.edu	37	8	71039235	71039235	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:71039235C>T	ENST00000452400.2	-	19	3910	c.3729G>A	c.(3727-3729)ctG>ctA	p.L1243L	NCOA2_ENST00000267974.4_Silent_p.L331L	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1243					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GATGCTGGTTCAGGATTTCCC	0.473			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																	dbGAP		Dom	yes		8	8q13.1	10499	nuclear receptor coactivator 2 (TIF2)		L	0													120.0	105.0	110.0					8																	71039235		1952	4149	6101	-	-	-	SO:0001819	synonymous_variant	0			X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.3729G>A	8.37:g.71039235C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CD2	Silent	SNP	pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_Nuc_rcpt_coact,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_HLH_DNA-bd	p.L1243	ENST00000452400.2	37	c.3729	CCDS47872.1	8																																																																																			NCOA2	-	pirsf_Nuclear_rcpt_coactivator	ENSG00000140396		0.473	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOA2	HGNC	protein_coding	OTTHUMT00000379696.1	130	0.76	1	C			71039235	71039235	-1	no_errors	ENST00000452400	ensembl	human	known	69_37n	silent	71	54.49	85	SNP	0.991	T
NCOA2	10499	genome.wustl.edu	37	8	71053514	71053514	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:71053514C>T	ENST00000452400.2	-	14	3114	c.2933G>A	c.(2932-2934)gGa>gAa	p.G978E	NCOA2_ENST00000267974.4_Missense_Mutation_p.G66E	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	978					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			AATCATACCTCCTTGGACTGG	0.572			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																	dbGAP		Dom	yes		8	8q13.1	10499	nuclear receptor coactivator 2 (TIF2)		L	0													63.0	68.0	66.0					8																	71053514		2061	4211	6272	-	-	-	SO:0001583	missense	0			X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.2933G>A	8.37:g.71053514C>T	ENSP00000399968:p.Gly978Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CD2	Missense_Mutation	SNP	pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_Nuc_rcpt_coact,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_HLH_DNA-bd	p.G978E	ENST00000452400.2	37	c.2933	CCDS47872.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.53|16.53	3.149332|3.149332	0.57151|0.57151	.|.	.|.	ENSG00000140396|ENSG00000140396	ENST00000518363|ENST00000452400;ENST00000267974	.|T;T	.|0.06371	.|4.85;3.31	6.05|6.05	5.18|5.18	0.71444|0.71444	.|.	.|0.391383	.|0.28653	.|N	.|0.014591	T|T	0.11196|0.11196	0.0273|0.0273	M|M	0.65975|0.65975	2.015|2.015	0.37227|0.37227	D|D	0.905518|0.905518	.|P;D	.|0.54047	.|0.936;0.964	.|P;P	.|0.49752	.|0.521;0.621	T|T	0.22556|0.22556	-1.0213|-1.0213	5|10	.|0.08599	.|T	.|0.76	.|.	10.4257|10.4257	0.44375|0.44375	0.0:0.7842:0.1429:0.0729|0.0:0.7842:0.1429:0.0729	.|.	.|66;978	.|F8WAJ2;Q15596	.|.;NCOA2_HUMAN	K|E	79|978;66	.|ENSP00000399968:G978E;ENSP00000267974:G66E	.|ENSP00000267974:G66E	E|G	-|-	1|2	0|0	NCOA2|NCOA2	71216068|71216068	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	3.982000|3.982000	0.56909|0.56909	1.581000|1.581000	0.49865|0.49865	0.650000|0.650000	0.86243|0.86243	GAG|GGA	NCOA2	-	pirsf_Nuclear_rcpt_coactivator	ENSG00000140396		0.572	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOA2	HGNC	protein_coding	OTTHUMT00000379696.1	103	0.00	0	C			71053514	71053514	-1	no_errors	ENST00000452400	ensembl	human	known	69_37n	missense	95	18.80	22	SNP	1.000	T
NCOA2	10499	genome.wustl.edu	37	8	71060584	71060584	+	Silent	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:71060584G>T	ENST00000452400.2	-	12	2710	c.2529C>A	c.(2527-2529)ctC>ctA	p.L843L	NCOA2_ENST00000267974.4_5'UTR	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	843					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TGAGTTGCATGAGGTCATTGA	0.493			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""						OREG0018819	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP		Dom	yes		8	8q13.1	10499	nuclear receptor coactivator 2 (TIF2)		L	0													187.0	183.0	184.0					8																	71060584		1977	4179	6156	-	-	-	SO:0001819	synonymous_variant	0			X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.2529C>A	8.37:g.71060584G>T		Somatic	1127	WXS	Illumina GAIIx	Phase_IV	Q14CD2	Nonsense_Mutation	SNP	pfam_DUF1518,pfam_Nuc_rcpt_coact_Ncoa-typ,superfamily_Nuc_rcpt_coact	p.S13*	ENST00000452400.2	37	c.38	CCDS47872.1	8	.	.	.	.	.	.	.	.	.	.	G	9.039	0.989163	0.18966	.	.	ENSG00000140396	ENST00000518363	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3815	0.74661	0.0:0.1385:0.8615:0.0	.	.	.	.	X	13	.	.	S	-	2	0	NCOA2	71223138	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.870000	0.69620	2.937000	0.99478	0.650000	0.86243	TCA	NCOA2	-	NULL	ENSG00000140396		0.493	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOA2	HGNC	protein_coding	OTTHUMT00000379696.1	142	0.70	1	G			71060584	71060584	-1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000518363	ensembl	human	putative	69_37n	nonsense	136	16.05	26	SNP	1.000	T
NCOA3	8202	genome.wustl.edu	37	20	46255811	46255811	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:46255811C>T	ENST00000371998.3	+	6	614	c.423C>T	c.(421-423)gtC>gtT	p.V141V	NCOA3_ENST00000372004.3_Silent_p.V141V|NCOA3_ENST00000341724.6_Silent_p.V141V|NCOA3_ENST00000371997.3_Silent_p.V141V|NCOA3_ENST00000497292.1_3'UTR			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	141	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CAGAAAATGTCACACAATACC	0.343																																						dbGAP											0													149.0	138.0	142.0					20																	46255811		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.423C>T	20.37:g.46255811C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_SRC-1,pfam_PAS_fold,superfamily_Nuc_rcpt_coact,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_HLH_DNA-bd	p.V141	ENST00000371998.3	37	c.423	CCDS13407.1	20																																																																																			NCOA3	-	pfam_PAS_fold,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS	ENSG00000124151		0.343	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCOA3	HGNC	protein_coding	OTTHUMT00000080405.1	97	0.00	0	C	NM_006534		46255811	46255811	+1	no_errors	ENST00000371998	ensembl	human	known	69_37n	silent	136	13.29	21	SNP	0.986	T
NCOA3	8202	genome.wustl.edu	37	20	46266471	46266471	+	Nonsense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:46266471C>G	ENST00000371998.3	+	13	2647	c.2456C>G	c.(2455-2457)tCa>tGa	p.S819*	NCOA3_ENST00000372004.3_Nonsense_Mutation_p.S819*|NCOA3_ENST00000341724.6_Nonsense_Mutation_p.S829*|NCOA3_ENST00000371997.3_Nonsense_Mutation_p.S829*			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	819					androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TCCATATCCTCAAATGGTAGT	0.348																																						dbGAP											0													176.0	174.0	175.0					20																	46266471		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.2456C>G	20.37:g.46266471C>G	ENSP00000361066:p.Ser819*	Somatic		WXS	Illumina GAIIx	Phase_IV	A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Nonsense_Mutation	SNP	pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_SRC-1,pfam_PAS_fold,superfamily_Nuc_rcpt_coact,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_HLH_DNA-bd	p.S819*	ENST00000371998.3	37	c.2456	CCDS13407.1	20	.	.	.	.	.	.	.	.	.	.	C	41	8.569563	0.98868	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997	.	.	.	5.38	5.38	0.77491	.	0.229052	0.38897	N	0.001537	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-13.4774	19.4859	0.95028	0.0:1.0:0.0:0.0	.	.	.	.	X	819;829;819;819;829	.	ENSP00000345671:S819X	S	+	2	0	NCOA3	45699878	1.000000	0.71417	0.999000	0.59377	0.948000	0.59901	3.669000	0.54561	2.680000	0.91292	0.655000	0.94253	TCA	NCOA3	-	pirsf_Nuclear_rcpt_coactivator	ENSG00000124151		0.348	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCOA3	HGNC	protein_coding	OTTHUMT00000080405.1	218	0.00	0	C	NM_006534		46266471	46266471	+1	no_errors	ENST00000371998	ensembl	human	known	69_37n	nonsense	234	16.43	46	SNP	1.000	G
NCOA6	23054	genome.wustl.edu	37	20	33345516	33345516	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:33345516C>T	ENST00000374796.2	-	8	3605	c.1035G>A	c.(1033-1035)aaG>aaA	p.K345K	NCOA6_ENST00000359003.2_Silent_p.K345K			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	345	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						AGGGAGCCTTCTTCCACCCTT	0.597																																						dbGAP											0													80.0	81.0	81.0					20																	33345516		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.1035G>A	20.37:g.33345516C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	NULL	p.K345	ENST00000374796.2	37	c.1035	CCDS13241.1	20																																																																																			NCOA6	-	NULL	ENSG00000198646		0.597	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOA6	HGNC	protein_coding	OTTHUMT00000078811.2	105	0.00	0	C	NM_014071		33345516	33345516	-1	no_errors	ENST00000359003	ensembl	human	known	69_37n	silent	143	16.37	28	SNP	1.000	T
NCOA3	8202	genome.wustl.edu	37	20	46275974	46275974	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:46275974C>G	ENST00000371998.3	+	18	3601	c.3410C>G	c.(3409-3411)tCt>tGt	p.S1137C	NCOA3_ENST00000372004.3_Missense_Mutation_p.S1137C|NCOA3_ENST00000341724.6_Missense_Mutation_p.S1067C|NCOA3_ENST00000371997.3_Missense_Mutation_p.S1132C			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1137	Acetyltransferase.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TCTTTTAACTCTATGATGAAT	0.483																																						dbGAP											0													94.0	86.0	89.0					20																	46275974		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3410C>G	20.37:g.46275974C>G	ENSP00000361066:p.Ser1137Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Missense_Mutation	SNP	pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_SRC-1,pfam_PAS_fold,superfamily_Nuc_rcpt_coact,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_HLH_DNA-bd	p.S1137C	ENST00000371998.3	37	c.3410	CCDS13407.1	20	.	.	.	.	.	.	.	.	.	.	C	23.0	4.359816	0.82353	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997	T;T;T;T	0.54071	0.59;0.59;0.59;0.59	5.48	5.48	0.80851	.	0.157646	0.45126	D	0.000388	T	0.67382	0.2887	L	0.54323	1.7	0.54753	D	0.999982	D;D;D;D;D;D	0.76494	0.991;0.999;0.991;0.991;0.995;0.991	P;P;P;P;P;P	0.61722	0.76;0.893;0.76;0.76;0.879;0.827	T	0.67734	-0.5594	10	0.54805	T	0.06	-18.0141	19.331	0.94288	0.0:1.0:0.0:0.0	.	1137;1132;1141;1137;1137;1137	A8K0W8;Q9Y6Q9-3;Q59EE8;Q0IIN7;Q9Y6Q9-5;Q9Y6Q9	.;.;.;.;.;NCOA3_HUMAN	C	1137;1067;1137;1137;1132	ENSP00000342123:S1067C;ENSP00000361073:S1137C;ENSP00000361066:S1137C;ENSP00000361065:S1132C	ENSP00000345671:S1137C	S	+	2	0	NCOA3	45709381	1.000000	0.71417	0.981000	0.43875	0.964000	0.63967	7.487000	0.81328	2.585000	0.87301	0.491000	0.48974	TCT	NCOA3	-	pirsf_Nuclear_rcpt_coactivator	ENSG00000124151		0.483	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCOA3	HGNC	protein_coding	OTTHUMT00000080405.1	65	0.00	0	C	NM_006534		46275974	46275974	+1	no_errors	ENST00000371998	ensembl	human	known	69_37n	missense	86	14.00	14	SNP	1.000	G
NCSTN	23385	genome.wustl.edu	37	1	160325512	160325512	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:160325512G>C	ENST00000294785.5	+	12	1545	c.1420G>C	c.(1420-1422)Gaa>Caa	p.E474Q	NCSTN_ENST00000459963.1_3'UTR|NCSTN_ENST00000392212.4_Missense_Mutation_p.E454Q|NCSTN_ENST00000368065.4_Missense_Mutation_p.E216Q|NCSTN_ENST00000368063.1_Missense_Mutation_p.E454Q|NCSTN_ENST00000535857.1_Missense_Mutation_p.E336Q	NM_015331.2	NP_056146.1	Q92542	NICA_HUMAN	nicastrin	474					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)|proteolysis (GO:0006508)|T cell proliferation (GO:0042098)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCTGAGCCCTGAAGAGGACCT	0.512																																						dbGAP											0													99.0	96.0	97.0					1																	160325512		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF240468	CCDS1203.1	1q22-q23	2014-09-17			ENSG00000162736	ENSG00000162736			17091	protein-coding gene	gene with protein product		605254				9039502, 10993067	Standard	XM_005245053		Approved	KIAA0253, APH2	uc001fvx.3	Q92542	OTTHUMG00000033110	ENST00000294785.5:c.1420G>C	1.37:g.160325512G>C	ENSP00000294785:p.Glu474Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T207|Q5T208|Q86VV5	Missense_Mutation	SNP	pfam_Nicastrin	p.E474Q	ENST00000294785.5	37	c.1420	CCDS1203.1	1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.761363	0.89932	.	.	ENSG00000162736	ENST00000294785;ENST00000368063;ENST00000535857;ENST00000368067;ENST00000392212;ENST00000368065;ENST00000424754	T;T;T;T	0.78364	-1.17;-1.16;-0.17;-1.16	5.74	5.74	0.90152	.	0.053457	0.64402	D	0.000001	T	0.64951	0.2645	L	0.38531	1.155	0.58432	D	0.999999	P;B;P	0.48764	0.915;0.264;0.503	P;B;B	0.45712	0.491;0.153;0.238	T	0.63712	-0.6575	10	0.25751	T	0.34	-14.2669	16.6474	0.85180	0.0:0.0:1.0:0.0	.	336;454;474	F6Y097;Q92542-2;Q92542	.;.;NICA_HUMAN	Q	474;454;336;181;454;216;218	ENSP00000294785:E474Q;ENSP00000357042:E454Q;ENSP00000442605:E336Q;ENSP00000376047:E454Q	ENSP00000294785:E474Q	E	+	1	0	NCSTN	158592136	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.736000	0.84948	2.732000	0.93576	0.650000	0.86243	GAA	NCSTN	-	pfam_Nicastrin	ENSG00000162736		0.512	NCSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCSTN	HGNC	protein_coding	OTTHUMT00000080622.1	59	0.00	0	G	NM_015331		160325512	160325512	+1	no_errors	ENST00000294785	ensembl	human	known	69_37n	missense	78	25.00	26	SNP	1.000	C
NCSTN	23385	genome.wustl.edu	37	1	160328001	160328001	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:160328001C>G	ENST00000294785.5	+	17	2195	c.2070C>G	c.(2068-2070)atC>atG	p.I690M	NCSTN_ENST00000392212.4_Missense_Mutation_p.I670M|NCSTN_ENST00000368065.4_Missense_Mutation_p.I432M|NCSTN_ENST00000368063.1_Missense_Mutation_p.I670M|NCSTN_ENST00000535857.1_Missense_Mutation_p.I552M	NM_015331.2	NP_056146.1	Q92542	NICA_HUMAN	nicastrin	690					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)|proteolysis (GO:0006508)|T cell proliferation (GO:0042098)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCTACTGCATCAATGCCAAAG	0.547																																						dbGAP											0													217.0	172.0	187.0					1																	160328001		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF240468	CCDS1203.1	1q22-q23	2014-09-17			ENSG00000162736	ENSG00000162736			17091	protein-coding gene	gene with protein product		605254				9039502, 10993067	Standard	XM_005245053		Approved	KIAA0253, APH2	uc001fvx.3	Q92542	OTTHUMG00000033110	ENST00000294785.5:c.2070C>G	1.37:g.160328001C>G	ENSP00000294785:p.Ile690Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T207|Q5T208|Q86VV5	Missense_Mutation	SNP	pfam_Nicastrin	p.I690M	ENST00000294785.5	37	c.2070	CCDS1203.1	1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.603033	0.46423	.	.	ENSG00000162736	ENST00000294785;ENST00000368063;ENST00000535857;ENST00000392212;ENST00000368065	T;T;T;T	0.81163	-1.46;-1.45;-0.49;-1.45	5.47	5.47	0.80525	.	0.240735	0.43747	D	0.000527	T	0.81044	0.4741	M	0.80422	2.495	0.58432	D	0.999992	P;B;B	0.40230	0.708;0.353;0.24	B;B;B	0.43950	0.437;0.214;0.067	D	0.84774	0.0769	10	0.87932	D	0	-15.1713	16.0518	0.80769	0.0:1.0:0.0:0.0	.	552;670;690	F6Y097;Q92542-2;Q92542	.;.;NICA_HUMAN	M	690;670;552;670;432	ENSP00000294785:I690M;ENSP00000357042:I670M;ENSP00000442605:I552M;ENSP00000376047:I670M	ENSP00000294785:I690M	I	+	3	3	NCSTN	158594625	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.922000	0.48860	2.569000	0.86673	0.637000	0.83480	ATC	NCSTN	-	NULL	ENSG00000162736		0.547	NCSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCSTN	HGNC	protein_coding	OTTHUMT00000080622.1	90	0.00	0	C	NM_015331		160328001	160328001	+1	no_errors	ENST00000294785	ensembl	human	known	69_37n	missense	75	38.52	47	SNP	1.000	G
NDN	4692	genome.wustl.edu	37	15	23932068	23932068	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:23932068C>T	ENST00000331837.4	-	1	382	c.297G>A	c.(295-297)gtG>gtA	p.V99V		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	99	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GCGCCTTCTGCACCAGCTGCG	0.667									Prader-Willi syndrome																													dbGAP											0													47.0	44.0	45.0					15																	23932068		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	Prader-Labhart-Willi syndrome	U35139	CCDS10014.1	15q11-q12	2012-12-07	2012-12-07		ENSG00000182636	ENSG00000182636			7675	protein-coding gene	gene with protein product	"""Prader-Willi syndrome chromosome region"""	602117	"""necdin (mouse) homolog"", ""necdin homolog (mouse)"""			9302265	Standard	NM_002487		Approved	HsT16328, PWCR	uc001ywk.3	Q99608	OTTHUMG00000129161	ENST00000331837.4:c.297G>A	15.37:g.23932068C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6Z5	Silent	SNP	pfam_MAGE,pfscan_MAGE	p.V99	ENST00000331837.4	37	c.297	CCDS10014.1	15																																																																																			NDN	-	pfscan_MAGE	ENSG00000182636		0.667	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDN	HGNC	protein_coding	OTTHUMT00000251226.2	13	0.00	0	C	NM_002487		23932068	23932068	-1	no_errors	ENST00000331837	ensembl	human	known	69_37n	silent	8	33.33	4	SNP	1.000	T
NDNF	79625	genome.wustl.edu	37	4	121957701	121957701	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:121957701C>T	ENST00000379692.4	-	4	1951	c.1425G>A	c.(1423-1425)agG>agA	p.R475R	NDNF_ENST00000506900.1_5'Flank	NM_024574.3	NP_078850.3	Q8TB73	NDNF_HUMAN	neuron-derived neurotrophic factor	475	Fibronectin type-III 2.				cell growth (GO:0016049)|extracellular matrix organization (GO:0030198)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron projection development (GO:0010976)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						AAAACTTGTTCCTTTCCTGAG	0.433																																						dbGAP											0													138.0	128.0	131.0					4																	121957701		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC019351	CCDS3717.2	4q27	2011-07-05	2011-07-05	2011-07-05	ENSG00000173376	ENSG00000173376			26256	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 31"""	C4orf31		12975309, 20969804	Standard	NM_024574		Approved	FLJ23191	uc003idq.1	Q8TB73	OTTHUMG00000132973	ENST00000379692.4:c.1425G>A	4.37:g.121957701C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0Q0|Q6UWE5|Q9H5P7	Silent	SNP	pfam_DUF2369,superfamily_Fibronectin_type3,smart_Fibronectin_type3	p.R475	ENST00000379692.4	37	c.1425	CCDS3717.2	4																																																																																			NDNF	-	pfam_DUF2369,superfamily_Fibronectin_type3,smart_Fibronectin_type3	ENSG00000173376		0.433	NDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDNF	HGNC	protein_coding	OTTHUMT00000256532.2	145	0.00	0	C	NM_024574		121957701	121957701	-1	no_errors	ENST00000379692	ensembl	human	known	69_37n	silent	88	27.27	33	SNP	0.998	T
NDRG2	57447	genome.wustl.edu	37	14	21490555	21490555	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:21490555G>C	ENST00000556147.1	-	4	1159	c.219C>G	c.(217-219)ctC>ctG	p.L73L	NDRG2_ENST00000397847.2_Silent_p.L73L|NDRG2_ENST00000554104.1_5'UTR|NDRG2_ENST00000397855.3_Silent_p.L59L|NDRG2_ENST00000397853.3_Silent_p.L73L|NDRG2_ENST00000360463.3_Silent_p.L59L|NDRG2_ENST00000403829.3_Silent_p.L69L|AL161668.5_ENST00000533984.1_lincRNA|NDRG2_ENST00000350792.3_Silent_p.L59L|NDRG2_ENST00000554143.1_Silent_p.L59L|NDRG2_ENST00000397856.3_Silent_p.L59L|NDRG2_ENST00000397844.2_Silent_p.L59L|NDRG2_ENST00000397858.1_Silent_p.L73L|NDRG2_ENST00000397851.2_Silent_p.L73L|NDRG2_ENST00000298687.5_Silent_p.L73L|NDRG2_ENST00000554277.1_5'Flank|NDRG2_ENST00000298684.5_Silent_p.L59L|NDRG2_ENST00000553503.1_Silent_p.L59L|NDRG2_ENST00000555158.1_Silent_p.L59L			Q9UN36	NDRG2_HUMAN	NDRG family member 2	73					cell differentiation (GO:0030154)|negative regulation of cytokine production (GO:0001818)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of platelet-derived growth factor production (GO:0090361)|regulation of vascular endothelial growth factor production (GO:0010574)|substantia nigra development (GO:0021762)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		CCTTACAGTTGAGTCCCACAT	0.557																																						dbGAP											0													118.0	107.0	111.0					14																	21490555		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB033074	CCDS9564.1, CCDS9565.1, CCDS61384.1, CCDS61386.1, CCDS73613.1	14q11.2	2008-07-09			ENSG00000165795	ENSG00000165795			14460	protein-coding gene	gene with protein product		605272				10831399	Standard	NM_201535		Approved	KIAA1248, SYLD	uc001vyx.3	Q9UN36	OTTHUMG00000029619	ENST00000556147.1:c.219C>G	14.37:g.21490555G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KUE3|B4DE86|B7WP11|B7WPD5|D3DS07|D3DS10|Q567T1|Q68DW2|Q86U08|Q86U46|Q96FD3|Q96FT0|Q96JU0|Q96PN0|Q9BQH5|Q9ULH2	Silent	SNP	pfam_Ndr	p.L73	ENST00000556147.1	37	c.219	CCDS9565.1	14																																																																																			NDRG2	-	pfam_Ndr	ENSG00000165795		0.557	NDRG2-013	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	NDRG2	HGNC	protein_coding	OTTHUMT00000411717.1	105	0.00	0	G			21490555	21490555	-1	no_errors	ENST00000298687	ensembl	human	known	69_37n	silent	104	23.53	32	SNP	1.000	C
NDRG3	57446	genome.wustl.edu	37	20	35284791	35284791	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:35284791G>A	ENST00000349004.1	-	15	999	c.918C>T	c.(916-918)ttC>ttT	p.F306F	NDRG3_ENST00000359675.2_Silent_p.F294F|NDRG3_ENST00000373773.3_Silent_p.F211F|NDRG3_ENST00000540765.1_Silent_p.F202F|NDRG3_ENST00000373803.2_Silent_p.F306F	NM_032013.3	NP_114402.1	Q9UGV2	NDRG3_HUMAN	NDRG family member 3	306					cell differentiation (GO:0030154)|negative regulation of cell growth (GO:0030308)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Myeloproliferative disorder(115;0.00878)				AAAAGTACTTGAAGGCCTCGG	0.428																																						dbGAP											0													81.0	81.0	81.0					20																	35284791		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL031662	CCDS13284.1, CCDS13285.1	20q11.21-q11.23	2008-07-28			ENSG00000101079	ENSG00000101079			14462	protein-coding gene	gene with protein product		605273				10831399, 17998568	Standard	NM_032013		Approved		uc002xfw.3	Q9UGV2	OTTHUMG00000032398	ENST00000349004.1:c.918C>T	20.37:g.35284791G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2S8|E1P5U7|E1P5U8|Q5TH32|Q96PL8|Q96SM2|Q9BXY7|Q9H3N7|Q9H411|Q9H8J6	Silent	SNP	pfam_Ndr,pfam_AB_hydrolase_1	p.F306	ENST00000349004.1	37	c.918	CCDS13285.1	20																																																																																			NDRG3	-	pfam_Ndr	ENSG00000101079		0.428	NDRG3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NDRG3	HGNC	protein_coding	OTTHUMT00000079053.2	75	0.00	0	G			35284791	35284791	-1	no_errors	ENST00000349004	ensembl	human	known	69_37n	silent	104	14.75	18	SNP	1.000	A
NDRG3	57446	genome.wustl.edu	37	20	35310952	35310952	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:35310952C>G	ENST00000349004.1	-	7	494	c.413G>C	c.(412-414)gGa>gCa	p.G138A	NDRG3_ENST00000359675.2_Missense_Mutation_p.G126A|NDRG3_ENST00000373773.3_Missense_Mutation_p.G43A|NDRG3_ENST00000540765.1_Missense_Mutation_p.G34A|NDRG3_ENST00000373803.2_Missense_Mutation_p.G138A	NM_032013.3	NP_114402.1	Q9UGV2	NDRG3_HUMAN	NDRG family member 3	138					cell differentiation (GO:0030154)|negative regulation of cell growth (GO:0030308)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Myeloproliferative disorder(115;0.00878)				AGCTCCAGCTCCAACTCCAAT	0.453																																						dbGAP											0													174.0	136.0	149.0					20																	35310952		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL031662	CCDS13284.1, CCDS13285.1	20q11.21-q11.23	2008-07-28			ENSG00000101079	ENSG00000101079			14462	protein-coding gene	gene with protein product		605273				10831399, 17998568	Standard	NM_032013		Approved		uc002xfw.3	Q9UGV2	OTTHUMG00000032398	ENST00000349004.1:c.413G>C	20.37:g.35310952C>G	ENSP00000345292:p.Gly138Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2S8|E1P5U7|E1P5U8|Q5TH32|Q96PL8|Q96SM2|Q9BXY7|Q9H3N7|Q9H411|Q9H8J6	Missense_Mutation	SNP	pfam_Ndr,pfam_AB_hydrolase_1	p.G138A	ENST00000349004.1	37	c.413	CCDS13285.1	20	.	.	.	.	.	.	.	.	.	.	C	25.3	4.627257	0.87560	.	.	ENSG00000101079	ENST00000349004;ENST00000373803;ENST00000359675;ENST00000373773;ENST00000540765;ENST00000422536	T;T;T;T;T;T	0.21031	2.03;2.03;2.03;2.03;2.03;2.03	5.14	5.14	0.70334	.	0.108204	0.64402	D	0.000006	T	0.53562	0.1804	M	0.88979	2.995	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.987;0.961	T	0.60732	-0.7205	10	0.62326	D	0.03	.	16.1961	0.82025	0.0:1.0:0.0:0.0	.	43;126;138	F8WBF9;Q9UGV2-2;Q9UGV2	.;.;NDRG3_HUMAN	A	138;138;126;43;34;129	ENSP00000345292:G138A;ENSP00000362909:G138A;ENSP00000352703:G126A;ENSP00000362878:G43A;ENSP00000442813:G34A;ENSP00000416636:G129A	ENSP00000345292:G138A	G	-	2	0	NDRG3	34744366	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.373000	0.79623	2.682000	0.91365	0.585000	0.79938	GGA	NDRG3	-	pfam_Ndr,pfam_AB_hydrolase_1	ENSG00000101079		0.453	NDRG3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NDRG3	HGNC	protein_coding	OTTHUMT00000079053.2	105	0.00	0	C			35310952	35310952	-1	no_errors	ENST00000349004	ensembl	human	known	69_37n	missense	113	16.91	23	SNP	1.000	G
NDST1	3340	genome.wustl.edu	37	5	149932856	149932856	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:149932856C>T	ENST00000261797.6	+	15	3113	c.2611C>T	c.(2611-2613)Ccc>Tcc	p.P871S	NDST1_ENST00000523767.1_Missense_Mutation_p.P814S|NDST1_ENST00000521752.1_3'UTR	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	871	Heparan sulfate N-sulfotransferase 1.				carbohydrate metabolic process (GO:0005975)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|midbrain development (GO:0030901)|polysaccharide biosynthetic process (GO:0000271)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAGACACTTCCCACTTGGCT	0.562																																						dbGAP											0													245.0	240.0	242.0					5																	149932856		2203	4300	6503	-	-	-	SO:0001583	missense	0			U18918	CCDS34277.1, CCDS75358.1	5q33.1	2008-02-05				ENSG00000070614		"""Sulfotransferases, membrane-bound"""	7680	protein-coding gene	gene with protein product		600853		HSST		7601448, 9230113	Standard	NM_001543		Approved	NST1	uc003lsk.4	P52848		ENST00000261797.6:c.2611C>T	5.37:g.149932856C>T	ENSP00000261797:p.Pro871Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96E57	Missense_Mutation	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom	p.P871S	ENST00000261797.6	37	c.2611	CCDS34277.1	5	.	.	.	.	.	.	.	.	.	.	C	22.0	4.235279	0.79800	.	.	ENSG00000070614	ENST00000523767;ENST00000261797	T;T	0.55588	0.51;0.51	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.78227	0.4250	M	0.90145	3.09	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.83868	0.0272	10	0.72032	D	0.01	.	17.8928	0.88877	0.0:1.0:0.0:0.0	.	814;871	E7EVJ3;P52848	.;NDST1_HUMAN	S	814;871	ENSP00000428604:P814S;ENSP00000261797:P871S	ENSP00000261797:P871S	P	+	1	0	NDST1	149913049	1.000000	0.71417	1.000000	0.80357	0.423000	0.31445	7.440000	0.80464	2.285000	0.76669	0.491000	0.48974	CCC	NDST1	-	NULL	ENSG00000070614		0.562	NDST1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST1	HGNC	protein_coding	OTTHUMT00000374314.2	33	0.00	0	C	NM_001543		149932856	149932856	+1	no_errors	ENST00000261797	ensembl	human	known	69_37n	missense	36	33.33	18	SNP	1.000	T
NDST3	9348	genome.wustl.edu	37	4	118976014	118976014	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:118976014G>C	ENST00000296499.5	+	2	1352	c.949G>C	c.(949-951)Gag>Cag	p.E317Q	NDST3_ENST00000433996.2_Missense_Mutation_p.E317Q	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	317	Heparan sulfate N-deacetylase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						TGTGGGAAAAGAGGGAACAAG	0.398																																						dbGAP											0													120.0	117.0	118.0					4																	118976014		2203	4297	6500	-	-	-	SO:0001583	missense	0			AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"""Sulfotransferases, membrane-bound"""	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.949G>C	4.37:g.118976014G>C	ENSP00000296499:p.Glu317Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Missense_Mutation	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom	p.E317Q	ENST00000296499.5	37	c.949	CCDS3708.1	4	.	.	.	.	.	.	.	.	.	.	G	14.05	2.419034	0.42918	.	.	ENSG00000164100	ENST00000296499;ENST00000433996	T;T	0.47869	1.18;0.83	5.28	5.28	0.74379	.	0.048611	0.85682	D	0.000000	T	0.63815	0.2543	M	0.64170	1.965	0.50632	D	0.999883	P;P;D	0.53619	0.939;0.931;0.961	P;P;P	0.59643	0.666;0.861;0.756	T	0.61073	-0.7136	10	0.36615	T	0.2	.	18.9069	0.92466	0.0:0.0:1.0:0.0	.	317;317;317	B4DI67;O95803;O95803-2	.;NDST3_HUMAN;.	Q	317	ENSP00000296499:E317Q;ENSP00000396625:E317Q	ENSP00000296499:E317Q	E	+	1	0	NDST3	119195462	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.949000	0.87791	2.468000	0.83385	0.591000	0.81541	GAG	NDST3	-	pfam_Heparan_SO4_deacetylase	ENSG00000164100		0.398	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST3	HGNC	protein_coding	OTTHUMT00000256517.4	65	0.00	0	G	NM_004784		118976014	118976014	+1	no_errors	ENST00000296499	ensembl	human	known	69_37n	missense	46	25.81	16	SNP	1.000	C
NDUFAF1	51103	genome.wustl.edu	37	15	41688938	41688938	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:41688938C>G	ENST00000260361.4	-	2	701	c.320G>C	c.(319-321)gGa>gCa	p.G107A		NM_016013.3	NP_057097.2	Q9Y375	CIA30_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 1	107					mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|mitochondrial respiratory chain complex I (GO:0005747)	unfolded protein binding (GO:0051082)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	12		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114)		GCCTTCCGGTCCTCTCCAATG	0.448																																						dbGAP											0													101.0	101.0	101.0					15																	41688938		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF151823	CCDS10075.1	15q11.2-q21.3	2012-10-12	2012-05-08		ENSG00000137806	ENSG00000137806		"""Mitochondrial respiratory chain complex assembly factors"""	18828	protein-coding gene	gene with protein product		606934				11935339, 10810093	Standard	NM_016013		Approved	CIA30, CGI-65	uc001znx.3	Q9Y375	OTTHUMG00000130340	ENST00000260361.4:c.320G>C	15.37:g.41688938C>G	ENSP00000260361:p.Gly107Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BVZ5	Missense_Mutation	SNP	pfam_NADH-UbQ_OxRdtase-assoc_prot30,superfamily_Galactose-bd-like	p.G107A	ENST00000260361.4	37	c.320	CCDS10075.1	15	.	.	.	.	.	.	.	.	.	.	C	15.61	2.883127	0.51908	.	.	ENSG00000137806	ENST00000260361	T	0.61510	0.1	4.77	4.77	0.60923	.	0.047576	0.85682	D	0.000000	T	0.76593	0.4009	M	0.77103	2.36	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.78612	-0.2136	10	0.49607	T	0.09	-9.732	18.2343	0.89945	0.0:1.0:0.0:0.0	.	107	Q9Y375	CIA30_HUMAN	A	107	ENSP00000260361:G107A	ENSP00000260361:G107A	G	-	2	0	NDUFAF1	39476230	1.000000	0.71417	0.079000	0.20413	0.058000	0.15608	7.285000	0.78660	2.375000	0.81037	0.456000	0.33151	GGA	NDUFAF1	-	NULL	ENSG00000137806		0.448	NDUFAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFAF1	HGNC	protein_coding	OTTHUMT00000252692.2	82	0.00	0	C	NM_016013		41688938	41688938	-1	no_errors	ENST00000260361	ensembl	human	known	69_37n	missense	70	15.66	13	SNP	0.995	G
NDUFB6	4712	genome.wustl.edu	37	9	32570984	32570984	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:32570984G>A	ENST00000379847.3	-	2	348	c.247C>T	c.(247-249)Cat>Tat	p.H83Y	NDUFB6_ENST00000350021.2_Missense_Mutation_p.H83Y	NM_002493.4	NP_002484.1	O95139	NDUB6_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6, 17kDa	83					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	8			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00199)		ATGTAATAATGAATAATCCAG	0.323																																						dbGAP											0													50.0	49.0	50.0					9																	32570984		2203	4295	6498	-	-	-	SO:0001583	missense	0			AF035840	CCDS6528.1, CCDS6529.1, CCDS75826.1	9p13.2	2011-07-04	2002-08-29		ENSG00000165264	ENSG00000165264		"""Mitochondrial respiratory chain complex / Complex I"""	7701	protein-coding gene	gene with protein product	"""NADH-ubiquinone oxidoreductase beta subunit, 6"", ""NADH-ubiquinone oxidoreductase B17 subunit"", ""complex I, mitochondrial respiratory chain, B17 subunit"""	603322	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6 (17kD, B17)"""			9763677, 9760212	Standard	NM_002493		Approved	B17, CI	uc003zre.2	O95139	OTTHUMG00000019741	ENST00000379847.3:c.247C>T	9.37:g.32570984G>A	ENSP00000369176:p.His83Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0Y7|Q5VYT2|Q6IB84	Missense_Mutation	SNP	pfam_NADH_DH_b-subcmplx_su6	p.H83Y	ENST00000379847.3	37	c.247	CCDS6528.1	9	.	.	.	.	.	.	.	.	.	.	G	17.18	3.324011	0.60634	.	.	ENSG00000165264	ENST00000379847;ENST00000350021	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.79173	0.4401	M	0.73217	2.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.80286	-0.1446	9	0.72032	D	0.01	-53.0632	18.1258	0.89585	0.0:0.0:1.0:0.0	.	83;83	Q5VYT2;O95139	.;NDUB6_HUMAN	Y	83	.	ENSP00000297983:H83Y	H	-	1	0	NDUFB6	32560984	1.000000	0.71417	1.000000	0.80357	0.244000	0.25665	5.081000	0.64444	2.808000	0.96608	0.655000	0.94253	CAT	NDUFB6	-	pfam_NADH_DH_b-subcmplx_su6	ENSG00000165264		0.323	NDUFB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFB6	HGNC	protein_coding	OTTHUMT00000052001.1	41	0.00	0	G	NM_002493		32570984	32570984	-1	no_errors	ENST00000379847	ensembl	human	known	69_37n	missense	33	17.50	7	SNP	1.000	A
NEB	4703	genome.wustl.edu	37	2	152402958	152402958	+	Splice_Site	SNP	C	C	T	rs111994546		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:152402958C>T	ENST00000172853.10	-	106	15412		c.e106-1		NEB_ENST00000427231.2_Splice_Site|NEB_ENST00000604864.1_Splice_Site|NEB_ENST00000603639.1_Splice_Site|NEB_ENST00000409198.1_Splice_Site|NEB_ENST00000397345.3_Splice_Site			P20929	NEBU_HUMAN	nebulin						muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGTATTTAATCTGAGAGGCAA	0.453																																						dbGAP											0													85.0	90.0	88.0					2																	152402958		1902	4128	6030	-	-	-	SO:0001630	splice_region_variant	0			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.15265-1G>A	2.37:g.152402958C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Splice_Site	SNP	-	e132-1	ENST00000172853.10	37	c.20368-1		2	.	.	.	.	.	.	.	.	.	.	C	26.7	4.760384	0.89932	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.4745	0.99168	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NEB	152111204	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	7.383000	0.79741	2.941000	0.99782	0.655000	0.94253	.	NEB	-	-	ENSG00000183091		0.453	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		71	0.00	0	C	NM_004543	Intron	152402958	152402958	-1	no_errors	ENST00000397345	ensembl	human	known	69_37n	splice_site	87	14.71	15	SNP	1.000	T
NEB	4703	genome.wustl.edu	37	2	152467319	152467319	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:152467319G>T	ENST00000172853.10	-	75	11285	c.11138C>A	c.(11137-11139)cCa>cAa	p.P3713Q	NEB_ENST00000427231.2_Missense_Mutation_p.P3956Q|NEB_ENST00000604864.1_Missense_Mutation_p.P3956Q|NEB_ENST00000603639.1_Missense_Mutation_p.P3956Q|NEB_ENST00000409198.1_Missense_Mutation_p.P3713Q|NEB_ENST00000397345.3_Missense_Mutation_p.P3956Q			P20929	NEBU_HUMAN	nebulin	3713					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CAGGATATCTGGGGTGTCTGG	0.473																																						dbGAP											0													82.0	75.0	77.0					2																	152467319		1931	4141	6072	-	-	-	SO:0001583	missense	0			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.11138C>A	2.37:g.152467319G>T	ENSP00000172853:p.Pro3713Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,prints_Nebulin,pfscan_Nebulin_35r-motif,pfscan_SH3_domain	p.P3956Q	ENST00000172853.10	37	c.11867		2	.	.	.	.	.	.	.	.	.	.	G	27.0	4.792545	0.90453	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.86806	0.6021	M	0.90977	3.165	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88064	0.2796	10	0.72032	D	0.01	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	3713	P20929	NEBU_HUMAN	Q	3713;3956;3956;3713	ENSP00000386259:P3713Q;ENSP00000380505:P3956Q;ENSP00000416578:P3956Q;ENSP00000172853:P3713Q	ENSP00000172853:P3713Q	P	-	2	0	NEB	152175565	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	6.703000	0.74633	2.894000	0.99253	0.591000	0.81541	CCA	NEB	-	pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif	ENSG00000183091		0.473	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		148	0.00	0	G	NM_004543		152467319	152467319	-1	no_errors	ENST00000397345	ensembl	human	known	69_37n	missense	99	29.29	41	SNP	1.000	T
NEB	4703	genome.wustl.edu	37	2	152531842	152531842	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:152531842G>C	ENST00000172853.10	-	35	3985	c.3838C>G	c.(3838-3840)Cag>Gag	p.Q1280E	NEB_ENST00000427231.2_Missense_Mutation_p.Q1280E|NEB_ENST00000604864.1_Missense_Mutation_p.Q1280E|NEB_ENST00000603639.1_Missense_Mutation_p.Q1280E|NEB_ENST00000409198.1_Missense_Mutation_p.Q1280E|NEB_ENST00000397345.3_Missense_Mutation_p.Q1280E			P20929	NEBU_HUMAN	nebulin	1280					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGGAGAAACTGAGGAAGATCA	0.373																																						dbGAP											0													175.0	180.0	178.0					2																	152531842		1896	4117	6013	-	-	-	SO:0001583	missense	0			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.3838C>G	2.37:g.152531842G>C	ENSP00000172853:p.Gln1280Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,prints_Nebulin,pfscan_Nebulin_35r-motif,pfscan_SH3_domain	p.Q1280E	ENST00000172853.10	37	c.3838		2	.	.	.	.	.	.	.	.	.	.	G	10.62	1.402374	0.25291	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.36157	1.27;1.27;1.27;1.27	5.47	5.47	0.80525	.	0.060921	0.64402	D	0.000005	T	0.19967	0.0480	N	0.12663	0.25	0.80722	D	1	B	0.18968	0.032	B	0.29663	0.105	T	0.07046	-1.0793	10	0.02654	T	1	.	11.8764	0.52550	0.0:0.0:0.8258:0.1742	.	1280	P20929	NEBU_HUMAN	E	1280	ENSP00000386259:Q1280E;ENSP00000380505:Q1280E;ENSP00000416578:Q1280E;ENSP00000172853:Q1280E	ENSP00000172853:Q1280E	Q	-	1	0	NEB	152240088	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.280000	0.43443	2.571000	0.86741	0.650000	0.86243	CAG	NEB	-	pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif	ENSG00000183091		0.373	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		215	0.00	0	G	NM_004543		152531842	152531842	-1	no_errors	ENST00000397345	ensembl	human	known	69_37n	missense	201	16.60	40	SNP	1.000	C
NEDD9	4739	genome.wustl.edu	37	6	11190431	11190431	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:11190431G>A	ENST00000379446.5	-	5	1837	c.1671C>T	c.(1669-1671)ttC>ttT	p.F557F	RP3-510L9.1_ENST00000500636.2_RNA|NEDD9_ENST00000504387.1_Silent_p.F557F	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	557					actin filament bundle assembly (GO:0051017)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|integrin-mediated signaling pathway (GO:0007229)|mitotic nuclear division (GO:0007067)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle pole (GO:0000922)				endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			GGCCGGGTCTGAAGAGGGCCT	0.592																																						dbGAP											0													97.0	95.0	96.0					6																	11190431		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L43821	CCDS4520.1, CCDS34340.1, CCDS47373.1, CCDS75400.1	6p25-p24	2011-04-13			ENSG00000111859	ENSG00000111859		"""Cas scaffolding proteins"""	7733	protein-coding gene	gene with protein product	"""Cas scaffolding protein family member 2"", ""Cas-like"""	602265					Standard	NM_182966		Approved	HEF1, CAS-L, CASS2	uc003mzv.2	Q14511	OTTHUMG00000014255	ENST00000379446.5:c.1671C>T	6.37:g.11190431G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9G7|A8MSJ9|G5E9Y9|Q5T9R4|Q5XKI0	Silent	SNP	pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.F557	ENST00000379446.5	37	c.1671	CCDS4520.1	6																																																																																			NEDD9	-	pfam_Serine_rich	ENSG00000111859		0.592	NEDD9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEDD9	HGNC	protein_coding	OTTHUMT00000039853.2	64	0.00	0	G	NM_006403		11190431	11190431	-1	no_errors	ENST00000379446	ensembl	human	known	69_37n	silent	70	23.91	22	SNP	0.987	A
NEK10	152110	genome.wustl.edu	37	3	27233674	27233674	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:27233674G>C	ENST00000429845.2	-	27	2713	c.2351C>G	c.(2350-2352)tCa>tGa	p.S784*	NEK10_ENST00000295720.6_Nonsense_Mutation_p.S96*|NEK10_ENST00000383771.4_Nonsense_Mutation_p.S96*|NEK10_ENST00000498182.1_5'UTR|NEK10_ENST00000357467.2_Nonsense_Mutation_p.S181*|NEK10_ENST00000383770.3_Nonsense_Mutation_p.S96*			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	784					positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CATGACATCTGATATCATCGA	0.393																																						dbGAP											0													167.0	147.0	154.0					3																	27233674		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)- related kinase 10"""			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.2351C>G	3.37:g.27233674G>C	ENSP00000395849:p.Ser784*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_cat_dom	p.S96*	ENST00000429845.2	37	c.287		3	.	.	.	.	.	.	.	.	.	.	G	43	10.335283	0.99385	.	.	ENSG00000163491	ENST00000295720;ENST00000383771;ENST00000383770;ENST00000357467	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	19.5968	0.95544	0.0:0.0:1.0:0.0	.	.	.	.	X	96;96;96;181	.	ENSP00000295720:S96X	S	-	2	0	NEK10	27208678	1.000000	0.71417	0.972000	0.41901	0.689000	0.40095	7.372000	0.79612	2.793000	0.96121	0.655000	0.94253	TCA	NEK10	-	superfamily_Kinase-like_dom,pfscan_Prot_kinase_cat_dom	ENSG00000163491		0.393	NEK10-016	NOVEL	basic|appris_principal	protein_coding	NEK10	HGNC	protein_coding	OTTHUMT00000438156.1	83	0.00	0	G	NM_152534		27233674	27233674	-1	no_errors	ENST00000383771	ensembl	human	known	69_37n	nonsense	83	18.63	19	SNP	1.000	C
NEK2	4751	genome.wustl.edu	37	1	211847751	211847751	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:211847751G>A	ENST00000366999.4	-	2	339	c.201C>T	c.(199-201)atC>atT	p.I67I	NEK2_ENST00000366998.3_Silent_p.I67I|RP11-122M14.1_ENST00000415202.1_RNA|NEK2_ENST00000540251.1_Silent_p.I24I	NM_002497.3	NP_002488.1	P51955	NEK2_HUMAN	NIMA-related kinase 2	67	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blastocyst development (GO:0001824)|centrosome separation (GO:0051299)|chromosome segregation (GO:0007059)|G2/M transition of mitotic cell cycle (GO:0000086)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of centriole-centriole cohesion (GO:1903126)|negative regulation of DNA binding (GO:0043392)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of mitosis (GO:0007088)|regulation of mitotic centrosome separation (GO:0046602)|spindle assembly (GO:0051225)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|microtubule (GO:0005874)|midbody (GO:0030496)|nucleus (GO:0005634)|protein complex (GO:0043234)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|stomach(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)		AGTAACGAACGATGTTTGGAT	0.398																																						dbGAP											0													108.0	92.0	97.0					1																	211847751		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U11050	CCDS1500.1, CCDS55682.1, CCDS73024.1	1q32.3	2014-06-12	2012-11-15		ENSG00000117650	ENSG00000117650			7745	protein-coding gene	gene with protein product	"""HsPK 21"", ""protein phosphatase 1, regulatory subunit 111"""	604043	"""NIMA (never in mitosis gene a)-related kinase 2"""			8274451, 24043777	Standard	NM_002497		Approved	NLK1, NEK2A, RP67, PPP1R111	uc001hir.2	P51955	OTTHUMG00000037121	ENST00000366999.4:c.201C>T	1.37:g.211847751G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53FD6|Q5I1Z9|Q5VXZ1|Q6NZX8|Q7Z634|Q86XH2|Q96QN9	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.I67	ENST00000366999.4	37	c.201	CCDS1500.1	1																																																																																			NEK2	-	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	ENSG00000117650		0.398	NEK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	NEK2	HGNC	protein_coding	OTTHUMT00000090154.1	128	0.00	0	G	NM_002497		211847751	211847751	-1	no_errors	ENST00000366999	ensembl	human	known	69_37n	silent	119	29.41	50	SNP	0.620	A
NEK6	10783	genome.wustl.edu	37	9	127083810	127083810	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:127083810G>C	ENST00000320246.5	+	5	512	c.367G>C	c.(367-369)Gag>Cag	p.E123Q	NEK6_ENST00000539416.1_Missense_Mutation_p.E148Q|NEK6_ENST00000373603.1_Missense_Mutation_p.E123Q|NEK6_ENST00000545174.1_Missense_Mutation_p.E123Q|NEK6_ENST00000373600.3_Missense_Mutation_p.E157Q|NEK6_ENST00000546191.1_Missense_Mutation_p.E123Q|NEK6_ENST00000540326.1_Missense_Mutation_p.E141Q|NEK6_ENST00000394199.2_Missense_Mutation_p.E157Q	NM_014397.5	NP_055212.2	Q9HC98	NEK6_HUMAN	NIMA-related kinase 6	123	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cellular senescence (GO:2000772)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|signal transduction (GO:0007165)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinesin binding (GO:0019894)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15						CATTGTGCTGGAGTTGGCTGA	0.567																																					NSCLC(122;934 1785 18647 44295 45571)	dbGAP											0													97.0	83.0	88.0					9																	127083810		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF087909	CCDS6854.1, CCDS48015.1, CCDS55338.1, CCDS55339.1	9q33.3-q34.11	2012-11-15	2012-11-15		ENSG00000119408	ENSG00000119408			7749	protein-coding gene	gene with protein product	"""putative serine-threonine protein kinase"""	604884	"""NIMA (never in mitosis gene a)-related kinase 6"""			10702691	Standard	NM_001145001		Approved	SID6-1512	uc004boh.3	Q9HC98	OTTHUMG00000020650	ENST00000320246.5:c.367G>C	9.37:g.127083810G>C	ENSP00000319734:p.Glu123Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z2D9|Q5TBG3|Q5TBG9|Q6FG86|Q6IAR3|Q96E83|Q9ULX2	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,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E157Q	ENST00000320246.5	37	c.469	CCDS6854.1	9	.	.	.	.	.	.	.	.	.	.	G	27.2	4.810352	0.90707	.	.	ENSG00000119408	ENST00000373603;ENST00000540326;ENST00000373600;ENST00000320246;ENST00000373601;ENST00000545174;ENST00000444973;ENST00000454453;ENST00000373596;ENST00000425237;ENST00000423785;ENST00000394199;ENST00000546191;ENST00000422297;ENST00000539416;ENST00000447379	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.64618	1.99;1.99;1.99;1.99;1.99;0.66;-0.11;1.99;0.66;1.99;1.99;1.99;0.66;1.99;1.99	5.35	5.35	0.76521	Serine/threonine-protein kinase-like domain (1);Serine-threonine/tyrosine-protein kinase (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.82907	0.5139	M	0.88377	2.95	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;0.997;0.999;0.997	D	0.86107	0.1560	10	0.72032	D	0.01	.	18.0523	0.89353	0.0:0.0:1.0:0.0	.	148;157;123;141	Q9HC98-4;Q9HC98-2;Q9HC98;Q9HC98-3	.;.;NEK6_HUMAN;.	Q	123;141;157;123;55;123;123;55;123;123;157;157;123;123;148;123	ENSP00000362705:E123Q;ENSP00000441469:E141Q;ENSP00000362702:E157Q;ENSP00000319734:E123Q;ENSP00000442636:E123Q;ENSP00000389517:E123Q;ENSP00000405215:E55Q;ENSP00000362698:E123Q;ENSP00000403087:E123Q;ENSP00000399847:E157Q;ENSP00000377749:E157Q;ENSP00000441426:E123Q;ENSP00000411401:E123Q;ENSP00000439651:E148Q;ENSP00000403414:E123Q	ENSP00000319734:E123Q	E	+	1	0	NEK6	126123631	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	9.306000	0.96204	2.497000	0.84241	0.655000	0.94253	GAG	NEK6	-	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,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000119408		0.567	NEK6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NEK6	HGNC	protein_coding	OTTHUMT00000054016.1	55	0.00	0	G	NM_014397		127083810	127083810	+1	no_errors	ENST00000373600	ensembl	human	known	69_37n	missense	58	19.44	14	SNP	1.000	C
NELL1	4745	genome.wustl.edu	37	11	21594894	21594894	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:21594894C>T	ENST00000357134.5	+	19	2473	c.2321C>T	c.(2320-2322)tCa>tTa	p.S774L	NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000325319.5_Missense_Mutation_p.S717L|NELL1_ENST00000298925.5_Missense_Mutation_p.S802L|NELL1_ENST00000532434.1_Missense_Mutation_p.S727L	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	774					cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						TATGGTGTTTCACGGCTTAGT	0.483																																						dbGAP											0													173.0	151.0	159.0					11																	21594894		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.2321C>T	11.37:g.21594894C>T	ENSP00000349654:p.Ser774Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_VWF_C	p.S774L	ENST00000357134.5	37	c.2321	CCDS7855.1	11	.	.	.	.	.	.	.	.	.	.	C	4.821	0.152569	0.09185	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	T;T;T;T	0.79033	-1.23;-1.21;-1.13;-1.09	5.73	2.75	0.32379	.	0.536654	0.17202	N	0.183094	T	0.59500	0.2198	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B	0.16802	0.001;0.0;0.006;0.019;0.0	B;B;B;B;B	0.21708	0.002;0.001;0.004;0.036;0.001	T	0.39663	-0.9603	10	0.07644	T	0.81	-4.5342	8.6363	0.33950	0.1243:0.7436:0.0:0.1321	.	717;802;319;727;774	F5H6I3;B3KXR2;Q8N9Z6;Q92832-2;Q92832	.;.;.;.;NELL1_HUMAN	L	802;774;717;727	ENSP00000298925:S802L;ENSP00000349654:S774L;ENSP00000317837:S717L;ENSP00000437170:S727L	ENSP00000298925:S802L	S	+	2	0	NELL1	21551470	0.971000	0.33674	0.188000	0.23233	0.091000	0.18340	2.412000	0.44609	0.772000	0.33382	0.555000	0.69702	TCA	NELL1	-	NULL	ENSG00000165973		0.483	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NELL1	HGNC	protein_coding	OTTHUMT00000387588.1	64	0.00	0	C	NM_006157		21594894	21594894	+1	no_errors	ENST00000357134	ensembl	human	known	69_37n	missense	76	31.53	35	SNP	0.070	T
NELL2	4753	genome.wustl.edu	37	12	45173749	45173749	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:45173749G>C	ENST00000429094.2	-	4	896	c.392C>G	c.(391-393)tCa>tGa	p.S131*	NELL2_ENST00000437801.2_Nonsense_Mutation_p.S181*|NELL2_ENST00000549027.1_Nonsense_Mutation_p.S130*|NELL2_ENST00000547172.1_5'UTR|NELL2_ENST00000395487.2_Nonsense_Mutation_p.S130*|NELL2_ENST00000452445.2_Nonsense_Mutation_p.S131*|NELL2_ENST00000551601.1_Nonsense_Mutation_p.S130*|NELL2_ENST00000333837.4_Nonsense_Mutation_p.S154*	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	131	Laminin G-like.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		GTGACTGCCTGAGCGGTAATG	0.468																																						dbGAP											0													170.0	152.0	158.0					12																	45173749		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.392C>G	12.37:g.45173749G>C	ENSP00000390680:p.Ser131*	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Nonsense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_VWF_C	p.S181*	ENST00000429094.2	37	c.542	CCDS8746.1	12	.	.	.	.	.	.	.	.	.	.	G	33	5.256068	0.95336	.	.	ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801;ENST00000543684;ENST00000552993;ENST00000553120	.	.	.	5.5	5.5	0.81552	.	0.185321	0.47852	D	0.000207	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-6.6354	19.4004	0.94627	0.0:0.0:1.0:0.0	.	.	.	.	X	130;131;130;131;130;154;181;130;131;128	.	ENSP00000327988:S154X	S	-	2	0	NELL2	43460016	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.004000	0.88535	2.577000	0.86979	0.655000	0.94253	TCA	NELL2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G	ENSG00000184613		0.468	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NELL2	HGNC	protein_coding	OTTHUMT00000404180.1	48	0.00	0	G	NM_006159		45173749	45173749	-1	no_errors	ENST00000437801	ensembl	human	known	69_37n	nonsense	45	25.00	15	SNP	1.000	C
NEO1	4756	genome.wustl.edu	37	15	73590864	73590864	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:73590864G>A	ENST00000339362.5	+	28	4524	c.4077G>A	c.(4075-4077)ttG>ttA	p.L1359L	NEO1_ENST00000560262.1_Silent_p.L1306L|NEO1_ENST00000261908.6_Silent_p.L1359L|NEO1_ENST00000558964.1_Silent_p.L1348L			Q92859	NEO1_HUMAN	neogenin 1	1359					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						CCCACCCATTGAAGAGCTTCG	0.572																																						dbGAP											0													115.0	106.0	109.0					15																	73590864		2198	4297	6495	-	-	-	SO:0001819	synonymous_variant	0			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.4077G>A	15.37:g.73590864G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZKM9|B7ZKN0|O00340|Q17RX1	Silent	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.L1359	ENST00000339362.5	37	c.4077	CCDS10247.1	15																																																																																			NEO1	-	pfam_Neogenin_C	ENSG00000067141		0.572	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEO1	HGNC	protein_coding	OTTHUMT00000257472.2	92	0.00	0	G	NM_002499		73590864	73590864	+1	no_errors	ENST00000261908	ensembl	human	known	69_37n	silent	77	23.76	24	SNP	0.999	A
NET1	10276	genome.wustl.edu	37	10	5496965	5496965	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:5496965G>A	ENST00000355029.4	+	10	1223	c.1081G>A	c.(1081-1083)Gag>Aag	p.E361K	NET1_ENST00000380359.3_Missense_Mutation_p.E307K|NET1_ENST00000484741.1_3'UTR|NET1_ENST00000542715.1_Missense_Mutation_p.E180K	NM_001047160.2	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	361					apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|myoblast migration (GO:0051451)|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 substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						AGGTGAATCCGAGTGCCAGTA	0.443																																						dbGAP											0													92.0	90.0	91.0					10																	5496965		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ010046	CCDS7067.1, CCDS41483.1	10p15	2013-01-10	2008-09-12		ENSG00000173848	ENSG00000173848		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14592	protein-coding gene	gene with protein product		606450				8649828	Standard	NR_073040		Approved	ARHGEF8, NET1A	uc001iia.4	Q7Z628	OTTHUMG00000017596	ENST00000355029.4:c.1081G>A	10.37:g.5496965G>A	ENSP00000347134:p.Glu361Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q12773|Q96D82|Q99903|Q9UEN6	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.E361K	ENST00000355029.4	37	c.1081	CCDS41483.1	10	.	.	.	.	.	.	.	.	.	.	G	17.51	3.408013	0.62399	.	.	ENSG00000173848	ENST00000355029;ENST00000542715;ENST00000380359	T;T;T	0.74632	-0.86;1.07;-0.86	5.56	4.65	0.58169	Dbl homology (DH) domain (2);	0.000000	0.42548	D	0.000692	T	0.64338	0.2589	L	0.58428	1.81	0.80722	D	1	P;P	0.45348	0.856;0.736	B;B	0.26202	0.067;0.049	T	0.67665	-0.5612	10	0.42905	T	0.14	-23.4888	14.5133	0.67802	0.0:0.0:0.8522:0.1478	.	307;361	Q5SQI7;Q7Z628	.;ARHG8_HUMAN	K	361;180;307	ENSP00000347134:E361K;ENSP00000446452:E180K;ENSP00000369717:E307K	ENSP00000347134:E361K	E	+	1	0	NET1	5486965	1.000000	0.71417	0.971000	0.41717	0.859000	0.49053	9.759000	0.98931	1.320000	0.45209	0.655000	0.94253	GAG	NET1	-	superfamily_DH-domain	ENSG00000173848		0.443	NET1-005	KNOWN	basic|CCDS	protein_coding	NET1	HGNC	protein_coding	OTTHUMT00000046553.3	42	0.00	0	G	NM_005863		5496965	5496965	+1	no_errors	ENST00000355029	ensembl	human	known	69_37n	missense	39	27.78	15	SNP	1.000	A
NEU3	10825	genome.wustl.edu	37	11	74705613	74705613	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:74705613G>A	ENST00000544263.1	+	3	225	c.55G>A	c.(55-57)Gac>Aac	p.D19N	NEU3_ENST00000534628.1_Missense_Mutation_p.D52N|NEU3_ENST00000531619.1_Missense_Mutation_p.D52N|NEU3_ENST00000529024.1_Intron|NEU3_ENST00000532963.1_Intron|NEU3_ENST00000531509.1_Missense_Mutation_p.D52N|NEU3_ENST00000294064.4_Missense_Mutation_p.D52N|NEU3_ENST00000545272.1_Intron			Q9UQ49	NEUR3_HUMAN	sialidase 3 (membrane sialidase)	19					carbohydrate metabolic process (GO:0005975)|ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha-sialidase activity (GO:0016997)|exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)			kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						GCAGGAAGATGACAGAGGGAT	0.532																																						dbGAP											0													108.0	112.0	110.0					11																	74705613		2028	4167	6195	-	-	-	SO:0001583	missense	0			AB008185	CCDS44682.1	11q13.5	2008-02-05				ENSG00000162139			7760	protein-coding gene	gene with protein product		604617				10405317	Standard	NM_006656		Approved		uc001ovw.3	Q9UQ49		ENST00000544263.1:c.55G>A	11.37:g.74705613G>A	ENSP00000445591:p.Asp19Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K327|Q9NQE1	Missense_Mutation	SNP	superfamily_Neuraminidase	p.D52N	ENST00000544263.1	37	c.154		11	.	.	.	.	.	.	.	.	.	.	G	11.01	1.514493	0.27123	.	.	ENSG00000162139	ENST00000294064;ENST00000531509;ENST00000544263;ENST00000531619;ENST00000534628	T;T;T;D;D	0.84660	3.0;3.0;3.0;-1.88;-1.88	5.46	-4.25	0.03766	.	0.795881	0.12289	N	0.482198	T	0.67031	0.2850	N	0.14661	0.345	0.09310	N	1	B	0.13145	0.007	B	0.04013	0.001	T	0.51795	-0.8660	10	0.25751	T	0.34	-4.2803	8.3761	0.32445	0.4416:0.1171:0.4413:0.0	.	52	A8K327	.	N	52;52;19;52;52	ENSP00000294064:D52N;ENSP00000432097:D52N;ENSP00000445591:D19N;ENSP00000436118:D52N;ENSP00000434754:D52N	ENSP00000294064:D52N	D	+	1	0	NEU3	74383261	0.000000	0.05858	0.004000	0.12327	0.341000	0.28922	-0.073000	0.11468	-0.636000	0.05524	-0.150000	0.13652	GAC	NEU3	-	superfamily_Neuraminidase	ENSG00000162139		0.532	NEU3-201	KNOWN	basic|appris_candidate	protein_coding	NEU3	HGNC	protein_coding		67	0.00	0	G	NM_006656		74705613	74705613	+1	no_errors	ENST00000294064	ensembl	human	known	69_37n	missense	58	14.71	10	SNP	0.000	A
NEURL2	140825	genome.wustl.edu	37	20	44519339	44519339	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:44519339C>A	ENST00000372518.4	-	1	587	c.292G>T	c.(292-294)Gag>Tag	p.E98*	CTSA_ENST00000372459.2_5'Flank|CTSA_ENST00000372484.3_5'Flank|RP3-337O18.9_ENST00000607703.1_RNA|CTSA_ENST00000191018.5_5'Flank|CTSA_ENST00000354880.5_5'Flank	NM_001278535.1|NM_080749.2	NP_001265464.1|NP_542787.1	Q9BR09	NEUL2_HUMAN	neuralized E3 ubiquitin protein ligase 2	98	NHR. {ECO:0000255|PROSITE- ProRule:PRU00400}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|sarcomere organization (GO:0045214)	muscle tendon junction (GO:0005927)|VCB complex (GO:0030891)				large_intestine(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				AGAGAAAACTCGGGAACGGGG	0.682																																						dbGAP											0													24.0	33.0	30.0					20																	44519339		2203	4295	6498	-	-	-	SO:0001587	stop_gained	0			AL008726	CCDS13384.1	20q13.12	2013-10-24	2013-10-24	2004-02-27	ENSG00000124257	ENSG00000124257			16156	protein-coding gene	gene with protein product		608597	"""chromosome 20 open reading frame 163"", ""neuralized-like 2 (Drosophila)"", ""neuralized homolog 2 (Drosophila)"""	C20orf163		12076535, 19723503	Standard	NM_001278535		Approved	dJ337O18.6, FLJ30259, Ozz, Ozz-E3	uc002xqg.2	Q9BR09	OTTHUMG00000032626	ENST00000372518.4:c.292G>T	20.37:g.44519339C>A	ENSP00000361596:p.Glu98*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3KR34	Nonsense_Mutation	SNP	pfam_Neu_Z,pfam_SOCS_C,smart_Neu_Z,smart_SOCS_C,pfscan_Neu_Z,pfscan_SOCS_C	p.E98*	ENST00000372518.4	37	c.292	CCDS13384.1	20	.	.	.	.	.	.	.	.	.	.	C	39	7.578563	0.98368	.	.	ENSG00000124257	ENST00000372518	.	.	.	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-24.448	18.1275	0.89590	0.0:1.0:0.0:0.0	.	.	.	.	X	98	.	.	E	-	1	0	NEURL2	43952746	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.115000	0.77110	2.514000	0.84764	0.561000	0.74099	GAG	NEURL2	-	smart_Neu_Z,pfscan_Neu_Z	ENSG00000124257		0.682	NEURL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEURL2	HGNC	protein_coding	OTTHUMT00000079539.2	27	0.00	0	C			44519339	44519339	-1	no_errors	ENST00000372518	ensembl	human	known	69_37n	nonsense	21	19.23	5	SNP	1.000	A
NF1	4763	genome.wustl.edu	37	17	29657391	29657391	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:29657391C>T	ENST00000358273.4	+	39	6070	c.5687C>T	c.(5686-5688)tCa>tTa	p.S1896L	NF1_ENST00000581113.2_3'UTR|NF1_ENST00000356175.3_Missense_Mutation_p.S1875L	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1896					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CTAGAGACATCAGGTTTATGT	0.408			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												dbGAP	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	11	Whole gene deletion(8)|Unknown(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	GRCh37	CD086560	NF1	D							115.0	107.0	110.0					17																	29657391		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.5687C>T	17.37:g.29657391C>T	ENSP00000351015:p.Ser1896Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP	p.S1896L	ENST00000358273.4	37	c.5687	CCDS42292.1	17	.	.	.	.	.	.	.	.	.	.	C	31	5.068970	0.93950	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	D;T;D	0.96300	-3.97;0.38;-3.97	5.6	5.6	0.85130	Armadillo-type fold (2);	0.000000	0.85682	D	0.000000	D	0.97371	0.9140	L	0.55103	1.725	0.80722	D	1	B;D;P	0.57899	0.039;0.981;0.893	B;D;P	0.69142	0.045;0.962;0.521	D	0.97111	0.9804	10	0.44086	T	0.13	.	18.6083	0.91275	0.0:1.0:0.0:0.0	.	925;1875;1896	Q59FX3;P21359-2;P21359	.;.;NF1_HUMAN	L	1896;1875;1541	ENSP00000351015:S1896L;ENSP00000348498:S1875L;ENSP00000389907:S1541L	ENSP00000348498:S1875L	S	+	2	0	NF1	26681517	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.406000	0.80017	2.627000	0.88993	0.650000	0.86243	TCA	NF1	-	superfamily_ARM-type_fold	ENSG00000196712		0.408	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	HGNC	protein_coding	OTTHUMT00000256351.2	113	0.00	0	C	NM_000267		29657391	29657391	+1	no_errors	ENST00000358273	ensembl	human	known	69_37n	missense	52	26.76	19	SNP	1.000	T
NFE2L2	4780	genome.wustl.edu	37	2	178096372	178096372	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:178096372G>C	ENST00000397062.3	-	5	1513	c.959C>G	c.(958-960)tCt>tGt	p.S320C	NFE2L2_ENST00000446151.2_Missense_Mutation_p.S297C|NFE2L2_ENST00000464747.1_Missense_Mutation_p.S304C|NFE2L2_ENST00000397063.4_Missense_Mutation_p.S304C	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	320					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)			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)			TGATAGATCAGAAACATCAAT	0.443			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																												dbGAP		Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	0													124.0	125.0	124.0					2																	178096372		2153	4281	6434	-	-	-	SO:0001583	missense	0				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.959C>G	2.37:g.178096372G>C	ENSP00000380252:p.Ser320Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	pfam_bZIP_1,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,superfamily_Sepin_dom,smart_bZIP,pfscan_bZIP	p.S320C	ENST00000397062.3	37	c.959	CCDS42782.1	2	.	.	.	.	.	.	.	.	.	.	G	10.75	1.436982	0.25900	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151	T;T;T	0.18174	2.24;2.23;2.23	5.96	5.07	0.68467	.	0.316634	0.40640	N	0.001048	T	0.14657	0.0354	N	0.25890	0.77	0.80722	D	1	B;B	0.13145	0.007;0.007	B;B	0.10450	0.005;0.005	T	0.02950	-1.1090	10	0.33940	T	0.23	-7.8803	16.8062	0.85706	0.0:0.1329:0.8671:0.0	.	297;320	E9PGJ7;Q16236	.;NF2L2_HUMAN	C	304;320;297	ENSP00000380253:S304C;ENSP00000380252:S320C;ENSP00000411575:S297C	ENSP00000380252:S320C	S	-	2	0	NFE2L2	177804618	1.000000	0.71417	0.983000	0.44433	0.996000	0.88848	4.226000	0.58606	1.488000	0.48433	0.655000	0.94253	TCT	NFE2L2	-	superfamily_Sepin_dom	ENSG00000116044		0.443	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	NFE2L2	HGNC	protein_coding	OTTHUMT00000257752.4	72	0.00	0	G	NM_006164		178096372	178096372	-1	no_errors	ENST00000397062	ensembl	human	known	69_37n	missense	75	31.19	34	SNP	1.000	C
NFE2L3	9603	genome.wustl.edu	37	7	26223397	26223397	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:26223397C>T	ENST00000056233.3	+	3	1086	c.827C>T	c.(826-828)tCa>tTa	p.S276L		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	276					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 negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						CCTGAAAATTCACTGGAGGTA	0.408																																						dbGAP											0													106.0	100.0	102.0					7																	26223397		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"""basic leucine zipper proteins"""	7783	protein-coding gene	gene with protein product		604135	"""nuclear factor (erythroid-derived 2)-like 3"""			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.827C>T	7.37:g.26223397C>T	ENSP00000056233:p.Ser276Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Missense_Mutation	SNP	pfam_bZIP_1,pfam_bZIP_Maf,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.S276L	ENST00000056233.3	37	c.827	CCDS5396.1	7	.	.	.	.	.	.	.	.	.	.	c	8.905	0.957327	0.18507	.	.	ENSG00000050344	ENST00000056233	T	0.26373	1.74	5.83	3.12	0.35913	.	1.240510	0.05480	N	0.554655	T	0.23289	0.0563	L	0.41027	1.25	0.20307	N	0.999912	B	0.12630	0.006	B	0.12156	0.007	T	0.29366	-1.0014	10	0.31617	T	0.26	0.4324	7.7796	0.29058	0.0:0.6675:0.0:0.3325	.	276	Q9Y4A8	NF2L3_HUMAN	L	276	ENSP00000056233:S276L	ENSP00000056233:S276L	S	+	2	0	NFE2L3	26189922	0.661000	0.27430	0.807000	0.32361	0.304000	0.27724	0.353000	0.20130	0.414000	0.25790	-0.964000	0.02622	TCA	NFE2L3	-	NULL	ENSG00000050344		0.408	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFE2L3	HGNC	protein_coding	OTTHUMT00000214088.1	126	0.00	0	C			26223397	26223397	+1	no_errors	ENST00000056233	ensembl	human	known	69_37n	missense	87	30.95	39	SNP	0.724	T
NFKB1	4790	genome.wustl.edu	37	4	103522112	103522112	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:103522112C>G	ENST00000505458.1	+	16	1972	c.1695C>G	c.(1693-1695)gtC>gtG	p.V565V	NFKB1_ENST00000226574.4_Silent_p.V566V|NFKB1_ENST00000600343.1_Silent_p.V385V|NFKB1_ENST00000394820.4_Silent_p.V565V			P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	565	Interaction with CFLAR.				apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cytokine production (GO:0001818)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-12 biosynthetic process (GO:0045083)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|response to copper ion (GO:0046688)|response to oxidative stress (GO:0006979)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleic acid binding transcription factor activity (GO:0001071)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Acetylsalicylic acid(DB00945)|Pranlukast(DB01411)|Thalidomide(DB01041)|Triflusal(DB08814)	TACTAGAAGTCACATCTGGTT	0.348																																						dbGAP											0													158.0	147.0	151.0					4																	103522112		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M58603	CCDS3657.1, CCDS54783.1	4q24	2013-01-10	2008-07-28		ENSG00000109320	ENSG00000109320		"""Ankyrin repeat domain containing"""	7794	protein-coding gene	gene with protein product		164011				1992489	Standard	NM_003998		Approved	KBF1, p105, NFKB-p50, p50, NF-kappaB, NFkappaB, NF-kB1	uc011cep.2	P19838	OTTHUMG00000161080	ENST00000505458.1:c.1695C>G	4.37:g.103522112C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5Y5|B3KVE8|Q68D84|Q86V43|Q8N4X7|Q9NZC0	Silent	SNP	pfam_RHD,pfam_Ankyrin_rpt,pfam_Death,superfamily_p53-like_TF_DNA-bd,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ig_E-set,superfamily_DEATH-like,smart_IPT_TIG_rcpt,smart_Ankyrin_rpt,smart_Death,prints_NF_Rel_dor,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_RHD	p.V566	ENST00000505458.1	37	c.1698	CCDS54783.1	4																																																																																			NFKB1	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000109320		0.348	NFKB1-003	KNOWN	alternative_5_UTR|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	NFKB1	HGNC	protein_coding	OTTHUMT00000363411.1	145	0.00	0	C			103522112	103522112	+1	no_errors	ENST00000226574	ensembl	human	known	69_37n	silent	113	18.12	25	SNP	0.542	G
NFU1	27247	genome.wustl.edu	37	2	69623385	69623385	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:69623385G>C	ENST00000410022.2	-	8	963	c.758C>G	c.(757-759)tCa>tGa	p.S253*	NFU1_ENST00000303698.3_Nonsense_Mutation_p.S229*|NFU1_ENST00000471185.1_5'UTR|NFU1_ENST00000394305.1_Nonsense_Mutation_p.S112*|NFU1_ENST00000462320.1_Nonsense_Mutation_p.S112*	NM_001002755.2	NP_001002755.1	Q9UMS0	NFU1_HUMAN	NFU1 iron-sulfur cluster scaffold	253					iron-sulfur cluster assembly (GO:0016226)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron ion binding (GO:0005506)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	7						ATTTTAAGGTGAGTTTGCTTC	0.274																																						dbGAP											0													97.0	96.0	97.0					2																	69623385		2203	4293	6496	-	-	-	SO:0001587	stop_gained	0			AJ132584	CCDS33217.1, CCDS42694.1, CCDS46315.1	2p15-p13	2014-07-03	2014-07-03	2006-10-24	ENSG00000169599	ENSG00000169599			16287	protein-coding gene	gene with protein product		608100	"""HIRA interacting protein 5"", ""NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae)"""	HIRIP5		11342215, 12886008	Standard	NR_045631		Approved	CGI-33, NifU, NIFUC	uc002sfk.3	Q9UMS0	OTTHUMG00000152668	ENST00000410022.2:c.758C>G	2.37:g.69623385G>C	ENSP00000387219:p.Ser253*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DUL9|Q53QE5|Q6VNZ8|Q7Z5B1|Q7Z5B2|Q9Y322	Nonsense_Mutation	SNP	pfam_NIF_FeS_clus_asmbl_NifU-like_N,pfam_NIF_FeS_clus_asmbl_NifU_C,superfamily_NIF_FeS_clus_asmbl_NifU-like_N,smart_NIF_FeS_clus_asmbl_NifU-like_N,pirsf_HIRA-interacting_protein_5	p.S253*	ENST00000410022.2	37	c.758	CCDS33217.1	2	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025947	0.93518	.	.	ENSG00000169599	ENST00000410022;ENST00000303698;ENST00000394305;ENST00000462320	.	.	.	5.25	5.25	0.73442	.	0.186643	0.38164	N	0.001799	.	.	.	.	.	.	0.49130	D	0.999757	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-28.5145	14.5305	0.67923	0.0:0.0:1.0:0.0	.	.	.	.	X	253;229;112;112	.	ENSP00000306965:S229X	S	-	2	0	NFU1	69476889	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.879000	0.48522	2.885000	0.99019	0.655000	0.94253	TCA	NFU1	-	NULL	ENSG00000169599		0.274	NFU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NFU1	HGNC	protein_coding	OTTHUMT00000327279.3	112	0.00	0	G	NM_015700		69623385	69623385	-1	no_errors	ENST00000410022	ensembl	human	known	69_37n	nonsense	99	18.85	23	SNP	1.000	C
NFYC	4802	genome.wustl.edu	37	1	41236499	41236499	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:41236499G>A	ENST00000308733.5	+	10	1382	c.1376G>A	c.(1375-1377)tGa>tAa	p.*459*	NFYC_ENST00000456393.2_Silent_p.*335*|NFYC_ENST00000372651.1_Silent_p.*336*|NFYC_ENST00000372653.1_Silent_p.*302*|NFYC_ENST00000440226.3_Silent_p.*336*|NFYC_ENST00000372654.1_Silent_p.*336*|NFYC_ENST00000427410.2_Silent_p.*298*|NFYC_ENST00000372652.1_Silent_p.*440*|NFYC_ENST00000425457.2_Silent_p.*355*|NFYC_ENST00000447388.3_Silent_p.*336*			Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma	0					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription, DNA-templated (GO:0045893)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			ACCGGCGACTGAGGGCCTGAG	0.657																																						dbGAP											0													44.0	44.0	44.0					1																	41236499		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			U78774	CCDS455.1, CCDS44120.1, CCDS44121.1, CCDS44122.1, CCDS44123.1	1p32	2008-11-11			ENSG00000066136	ENSG00000066136			7806	protein-coding gene	gene with protein product		605344				8921405, 9249075	Standard	NM_014223		Approved	CBF-C, NF-YC	uc009vwd.3	Q13952	OTTHUMG00000007729	ENST00000308733.5:c.1376G>A	1.37:g.41236499G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DUS6|B4DW63|D3DPV9|F8VWM3|Q59GY4|Q5T6K8|Q5T6K9|Q5T6L1|Q5TZR6|Q92869|Q9HBX1|Q9NXB5|Q9UM67|Q9UML0|Q9UMT7	Silent	SNP	pfam_CBFA_NFYB_domain,pfam_Histone_core_D,superfamily_Histone-fold	p.*459	ENST00000308733.5	37	c.1376		1																																																																																			NFYC	-	NULL	ENSG00000066136		0.657	NFYC-007	KNOWN	basic	protein_coding	NFYC	HGNC	protein_coding	OTTHUMT00000020802.1	30	0.00	0	G	NM_014223		41236499	41236499	+1	no_errors	ENST00000308733	ensembl	human	known	69_37n	silent	17	22.73	5	SNP	1.000	A
NGDN	25983	genome.wustl.edu	37	14	23946772	23946772	+	Intron	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:23946772C>T	ENST00000408901.3	+	10	956				NGDN_ENST00000397154.3_Nonsense_Mutation_p.Q311*|NGDN_ENST00000556580.1_Intron	NM_001042635.1|NM_015514.1	NP_001036100.1|NP_056329.1	Q8NEJ9	NGDN_HUMAN	neuroguidin, EIF4E binding protein						regulation of translation (GO:0006417)	cell projection (GO:0042995)|chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	12	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GAAAAAAGGTCAGTGAACTGC	0.468																																						dbGAP											0													97.0	94.0	95.0					14																	23946772		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AK022215	CCDS32051.1, CCDS41926.1	14q11.2	2014-06-13	2006-08-02	2006-08-02	ENSG00000129460	ENSG00000129460			20271	protein-coding gene	gene with protein product		610777	"""chromosome 14 open reading frame 120"""	C14orf120		16705177	Standard	NM_001042635		Approved	DKFZP564O092, LCP5, lpd-2, NGD	uc001wjy.3	Q8NEJ9	OTTHUMG00000171501	ENST00000408901.3:c.928+3C>T	14.37:g.23946772C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K760|Q9Y400	Nonsense_Mutation	SNP	pfam_Sas10/Utp3/C1D	p.Q311*	ENST00000408901.3	37	c.931	CCDS41926.1	14	.	.	.	.	.	.	.	.	.	.	C	15.89	2.965830	0.53507	.	.	ENSG00000129460	ENST00000397154	.	.	.	5.66	0.378	0.16204	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.305	0.15799	0.0:0.4083:0.2702:0.3214	.	.	.	.	X	311	.	.	Q	+	1	0	NGDN	23016612	0.984000	0.35163	0.998000	0.56505	0.472000	0.32918	-0.293000	0.08320	0.015000	0.14971	-0.929000	0.02709	CAG	NGDN	-	NULL	ENSG00000129460		0.468	NGDN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NGDN	HGNC	protein_coding	OTTHUMT00000413782.3	91	0.00	0	C	NM_001042635		23946772	23946772	+1	no_errors	ENST00000397154	ensembl	human	known	69_37n	nonsense	76	14.61	13	SNP	0.995	T
NID1	4811	genome.wustl.edu	37	1	236205271	236205271	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:236205271C>G	ENST00000264187.6	-	4	1156	c.1074G>C	c.(1072-1074)gaG>gaC	p.E358D	NID1_ENST00000366595.3_Missense_Mutation_p.E358D	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	358					basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	GGTGAAAAGTCTCCACTGCCA	0.537																																						dbGAP											0													70.0	72.0	71.0					1																	236205271		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.1074G>C	1.37:g.236205271C>G	ENSP00000264187:p.Glu358Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP	pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd,superfamily_Green_fluorescent_prot-like,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd,smart_EGF-like,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1	p.E358D	ENST00000264187.6	37	c.1074	CCDS1608.1	1	.	.	.	.	.	.	.	.	.	.	C	5.778	0.327886	0.10956	.	.	ENSG00000116962	ENST00000264187;ENST00000366595	D;D	0.88431	-1.73;-2.38	5.57	2.4	0.29515	.	1.018790	0.07791	N	0.955015	D	0.85630	0.5741	L	0.54323	1.7	0.09310	N	1	P;B	0.46220	0.874;0.012	B;B	0.41723	0.365;0.003	T	0.73310	-0.4023	10	0.22706	T	0.39	.	9.5111	0.39078	0.0:0.6609:0.2658:0.0734	.	358;358	P14543-2;P14543	.;NID1_HUMAN	D	358	ENSP00000264187:E358D;ENSP00000355554:E358D	ENSP00000264187:E358D	E	-	3	2	NID1	234271894	0.814000	0.29104	0.416000	0.26546	0.145000	0.21501	0.557000	0.23454	1.334000	0.45468	0.563000	0.77884	GAG	NID1	-	NULL	ENSG00000116962		0.537	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NID1	HGNC	protein_coding	OTTHUMT00000096647.2	39	0.00	0	C	NM_002508		236205271	236205271	-1	no_errors	ENST00000264187	ensembl	human	known	69_37n	missense	67	18.29	15	SNP	0.090	G
NID2	22795	genome.wustl.edu	37	14	52477661	52477661	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:52477661C>T	ENST00000216286.5	-	18	3654	c.3655G>A	c.(3655-3657)Gag>Aag	p.E1219K	NID2_ENST00000541773.1_Missense_Mutation_p.E1118K	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1219					basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					ACCTTGCGCTCAGAGCCATCC	0.537																																						dbGAP											0													133.0	122.0	126.0					14																	52477661		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.3655G>A	14.37:g.52477661C>T	ENSP00000216286:p.Glu1219Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd,superfamily_Green_fluorescent_prot-like,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1	p.E1219K	ENST00000216286.5	37	c.3655	CCDS9706.1	14	.	.	.	.	.	.	.	.	.	.	C	15.59	2.879025	0.51801	.	.	ENSG00000087303	ENST00000216286;ENST00000316204;ENST00000541773	D;D	0.95690	-3.78;-3.78	6.04	3.14	0.36123	Six-bladed beta-propeller, TolB-like (1);	0.339064	0.38720	N	0.001586	D	0.87873	0.6287	N	0.03016	-0.435	0.29433	N	0.859698	B;B;B	0.32968	0.392;0.091;0.325	B;B;B	0.39590	0.173;0.018;0.304	T	0.82008	-0.0670	10	0.26408	T	0.33	.	11.2555	0.49052	0.0:0.6955:0.2402:0.0643	.	813;1118;1219	E7EPP3;Q14112-2;Q14112	.;.;NID2_HUMAN	K	1219;813;1118	ENSP00000216286:E1219K;ENSP00000443730:E1118K	ENSP00000216286:E1219K	E	-	1	0	NID2	51547411	0.477000	0.25909	0.986000	0.45419	0.797000	0.45037	1.115000	0.31209	0.397000	0.25310	0.561000	0.74099	GAG	NID2	-	pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	ENSG00000087303		0.537	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NID2	HGNC	protein_coding	OTTHUMT00000276888.1	80	0.00	0	C			52477661	52477661	-1	no_errors	ENST00000216286	ensembl	human	known	69_37n	missense	51	30.14	22	SNP	0.914	T
NIF3L1	60491	genome.wustl.edu	37	2	201756781	201756781	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:201756781G>A	ENST00000409020.1	+	2	409	c.115G>A	c.(115-117)Gac>Aac	p.D39N	PPIL3_ENST00000409361.1_5'Flank|NIF3L1_ENST00000409357.1_Missense_Mutation_p.D39N|PPIL3_ENST00000392283.4_5'Flank|PPIL3_ENST00000286175.8_5'Flank|PPIL3_ENST00000465823.1_5'Flank|NIF3L1_ENST00000416651.1_Missense_Mutation_p.D39N|PPIL3_ENST00000409449.1_5'Flank|NIF3L1_ENST00000409588.1_Missense_Mutation_p.D39N|NIF3L1_ENST00000359683.4_Missense_Mutation_p.D12N			Q9GZT8	GTPC1_HUMAN	NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)	39					7,8-dihydroneopterin 3'-triphosphate biosynthetic process (GO:0035998)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTP cyclohydrolase I activity (GO:0003934)|metal ion binding (GO:0046872)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(2)	13						TTCCTTGAATGACTTTGCATC	0.483																																						dbGAP											0													139.0	126.0	130.0					2																	201756781		1963	4153	6116	-	-	-	SO:0001583	missense	0			AB038949	CCDS42797.1, CCDS46485.1, CCDS46486.1	2q33	2011-11-10	2011-11-10		ENSG00000196290	ENSG00000196290			13390	protein-coding gene	gene with protein product		605778	"""NIF3 (Ngg1 interacting factor 3, S.pombe homolog)-like 1"", ""NIF3 NGG1 interacting factor 3-like 1 (S. pombe)"""	ALS2CR1		11124544, 11161814, 12522100	Standard	NM_001136039		Approved	CALS-7, MDS015	uc002uwm.2	Q9GZT8	OTTHUMG00000154588	ENST00000409020.1:c.115G>A	2.37:g.201756781G>A	ENSP00000386394:p.Asp39Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53TX4|Q6X735|Q9H2D2|Q9HC18	Missense_Mutation	SNP	pfam_Interacting_NIF3,superfamily_Interacting_NIF3,pirsf_UCP037490_NIF3_euk,tigrfam_Interacting_NIF3	p.D39N	ENST00000409020.1	37	c.115	CCDS46485.1	2	.	.	.	.	.	.	.	.	.	.	G	18.45	3.625637	0.66901	.	.	ENSG00000196290	ENST00000426253;ENST00000416651;ENST00000454952;ENST00000409020;ENST00000359683;ENST00000409357;ENST00000409129;ENST00000374679;ENST00000409588	T;T;T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94	5.37	5.37	0.77165	.	0.229978	0.45361	D	0.000370	T	0.41488	0.1161	L	0.46157	1.445	0.36110	D	0.844744	B;B	0.18310	0.027;0.01	B;B	0.25759	0.063;0.033	T	0.41574	-0.9501	10	0.29301	T	0.29	-15.1784	18.7215	0.91697	0.0:0.0:1.0:0.0	.	39;39	Q6X735;Q9GZT8	.;NIF3L_HUMAN	N	12;39;39;39;12;39;12;39;39	ENSP00000412761:D12N;ENSP00000400787:D39N;ENSP00000394955:D39N;ENSP00000386394:D39N;ENSP00000352711:D12N;ENSP00000387315:D39N;ENSP00000387061:D12N;ENSP00000387021:D39N	ENSP00000352711:D12N	D	+	1	0	NIF3L1	201465026	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.849000	0.62882	2.521000	0.84997	0.455000	0.32223	GAC	NIF3L1	-	pfam_Interacting_NIF3,superfamily_Interacting_NIF3,pirsf_UCP037490_NIF3_euk,tigrfam_Interacting_NIF3	ENSG00000196290		0.483	NIF3L1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NIF3L1	HGNC	protein_coding	OTTHUMT00000336201.1	89	0.00	0	G	NM_021824		201756781	201756781	+1	no_errors	ENST00000409020	ensembl	human	known	69_37n	missense	92	24.59	30	SNP	1.000	A
NIPA1	123606	genome.wustl.edu	37	15	23049288	23049288	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:23049288G>A	ENST00000337435.4	-	5	555	c.531C>T	c.(529-531)ttC>ttT	p.F177F	NIPA1_ENST00000538684.1_Silent_p.F7F|NIPA1_ENST00000561183.1_Silent_p.F102F|NIPA1_ENST00000437912.2_Silent_p.F102F	NM_001142275.1|NM_144599.4	NP_001135747.1|NP_653200.2	Q7RTP0	NIPA1_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 1	177					cell death (GO:0008219)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		GCGCGATCCAGAAGATGAGCA	0.607																																						dbGAP											0													67.0	66.0	67.0					15																	23049288		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BK001020	CCDS73691.1, CCDS73692.1	15q11.2	2006-10-06			ENSG00000170113	ENSG00000170113			17043	protein-coding gene	gene with protein product		608145	"""spastic paraplegia 6 (autosomal dominant)"""	SPG6		14508710	Standard	NM_144599		Approved	MGC35570	uc001yvc.3	Q7RTP0	OTTHUMG00000129099	ENST00000337435.4:c.531C>T	15.37:g.23049288G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RA76|Q5HYA9|Q7KZB0|Q86XW4	Silent	SNP	pfam_Mg_trans_NIPA	p.F177	ENST00000337435.4	37	c.531	CCDS10011.1	15																																																																																			NIPA1	-	pfam_Mg_trans_NIPA	ENSG00000170113		0.607	NIPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPA1	HGNC	protein_coding	OTTHUMT00000251135.2	44	0.00	0	G	NM_144599		23049288	23049288	-1	no_errors	ENST00000337435	ensembl	human	known	69_37n	silent	34	27.66	13	SNP	1.000	A
NIPBL	25836	genome.wustl.edu	37	5	36972067	36972067	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:36972067G>A	ENST00000282516.8	+	8	1291	c.792G>A	c.(790-792)atG>atA	p.M264I	NIPBL_ENST00000448238.2_Missense_Mutation_p.M264I|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	264					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CTTCAACAATGAGGAATGCTG	0.378																																						dbGAP											0													66.0	64.0	64.0					5																	36972067		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.792G>A	5.37:g.36972067G>A	ENSP00000282516:p.Met264Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.M264I	ENST00000282516.8	37	c.792	CCDS3920.1	5	.	.	.	.	.	.	.	.	.	.	G	11.87	1.767145	0.31320	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.92911	-3.12;-3.13	5.49	4.63	0.57726	.	0.138323	0.51477	N	0.000088	T	0.80059	0.4554	N	0.11560	0.145	0.32328	N	0.561437	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.72830	-0.4174	10	0.13108	T	0.6	.	6.555	0.22456	0.306:0.0:0.694:0.0	.	264;264	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	I	264	ENSP00000282516:M264I;ENSP00000406266:M264I	ENSP00000282516:M264I	M	+	3	0	NIPBL	37007824	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.828000	0.55753	1.321000	0.45227	0.655000	0.94253	ATG	NIPBL	-	NULL	ENSG00000164190		0.378	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPBL	HGNC	protein_coding	OTTHUMT00000207582.1	65	0.00	0	G	NM_015384		36972067	36972067	+1	no_errors	ENST00000282516	ensembl	human	known	69_37n	missense	49	22.22	14	SNP	1.000	A
NIPBL	25836	genome.wustl.edu	37	5	36976114	36976114	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:36976114G>A	ENST00000282516.8	+	9	1604	c.1105G>A	c.(1105-1107)Gac>Aac	p.D369N	NIPBL_ENST00000448238.2_Missense_Mutation_p.D369N|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	369					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AAGGTCTTCAGACATGGACCA	0.378																																						dbGAP											0													104.0	108.0	107.0					5																	36976114		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.1105G>A	5.37:g.36976114G>A	ENSP00000282516:p.Asp369Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.D369N	ENST00000282516.8	37	c.1105	CCDS3920.1	5	.	.	.	.	.	.	.	.	.	.	G	19.97	3.924965	0.73213	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.95001	-3.57;-3.58	5.24	5.24	0.73138	.	0.113837	0.64402	D	0.000016	D	0.88905	0.6564	N	0.14661	0.345	0.45662	D	0.998583	B;B	0.33238	0.281;0.403	B;B	0.27796	0.038;0.083	D	0.88196	0.2880	10	0.51188	T	0.08	-8.1955	18.8167	0.92079	0.0:0.0:1.0:0.0	.	369;369	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	N	369	ENSP00000282516:D369N;ENSP00000406266:D369N	ENSP00000282516:D369N	D	+	1	0	NIPBL	37011871	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.756000	0.68757	2.447000	0.82792	0.467000	0.42956	GAC	NIPBL	-	NULL	ENSG00000164190		0.378	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPBL	HGNC	protein_coding	OTTHUMT00000207582.1	90	0.00	0	G	NM_015384		36976114	36976114	+1	no_errors	ENST00000282516	ensembl	human	known	69_37n	missense	55	24.66	18	SNP	1.000	A
NIPBL	25836	genome.wustl.edu	37	5	37020979	37020979	+	Splice_Site	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:37020979G>A	ENST00000282516.8	+	27	5827	c.5328G>A	c.(5326-5328)caG>caA	p.Q1776Q	NIPBL_ENST00000448238.2_Splice_Site_p.Q1776Q	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1776					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ATTTGACACAGGTAAACTGGA	0.373																																						dbGAP											0													157.0	150.0	152.0					5																	37020979		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.5328+1G>A	5.37:g.37020979G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Silent	SNP	superfamily_ARM-type_fold	p.Q1776	ENST00000282516.8	37	c.5328	CCDS3920.1	5																																																																																			NIPBL	-	superfamily_ARM-type_fold	ENSG00000164190		0.373	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPBL	HGNC	protein_coding	OTTHUMT00000207582.1	85	0.00	0	G	NM_015384	Silent	37020979	37020979	+1	no_errors	ENST00000282516	ensembl	human	known	69_37n	silent	54	29.87	23	SNP	1.000	A
NIPSNAP1	8508	genome.wustl.edu	37	22	29956727	29956727	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:29956727G>C	ENST00000216121.7	-	8	956	c.702C>G	c.(700-702)ctC>ctG	p.L234L		NM_001202502.1|NM_003634.3	NP_001189431.1|NP_003625.2	Q9BPW8	NIPS1_HUMAN	nipsnap homolog 1 (C. elegans)	234					sensory perception of pain (GO:0019233)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|synaptic membrane (GO:0097060)	neurotransmitter binding (GO:0042165)	p.?(1)		large_intestine(2)|lung(2)|skin(1)	5						ACCTACCCCAGAGATGGTGCA	0.532																																						dbGAP											1	Unknown(1)	lung(1)											137.0	136.0	136.0					22																	29956727		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ001258	CCDS13860.1	22q12	2013-09-12	2001-11-28		ENSG00000184117	ENSG00000184117			7827	protein-coding gene	gene with protein product	"""4-nitrophenylphosphatase domain and non-neuronal SNAP25-like 1"""	603249	"""NIPSNAP, C. elegans, homolog 1"""			9661659	Standard	NM_003634		Approved		uc003afx.4	Q9BPW8	OTTHUMG00000151294	ENST00000216121.7:c.702C>G	22.37:g.29956727G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAY3|O43800	Silent	SNP	pfam_NIPSNAP,superfamily_Dimeric_a/b-barrel	p.L234	ENST00000216121.7	37	c.702	CCDS13860.1	22																																																																																			NIPSNAP1	-	pfam_NIPSNAP,superfamily_Dimeric_a/b-barrel	ENSG00000184117		0.532	NIPSNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPSNAP1	HGNC	protein_coding	OTTHUMT00000322117.1	63	0.00	0	G			29956727	29956727	-1	no_errors	ENST00000216121	ensembl	human	known	69_37n	silent	27	68.60	59	SNP	0.994	C
NISCH	11188	genome.wustl.edu	37	3	52505964	52505964	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:52505964G>A	ENST00000479054.1	+	6	616	c.544G>A	c.(544-546)Gac>Aac	p.D182N	NISCH_ENST00000488380.1_Missense_Mutation_p.D182N|NISCH_ENST00000345716.4_Missense_Mutation_p.D182N|NISCH_ENST00000420808.2_Missense_Mutation_p.D182N			Q9Y2I1	NISCH_HUMAN	nischarin	182	Necessary for homooligomerization and targeting to endosomes.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	GCACATCCTGGACTTCACCTG	0.627											OREG0015615	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													61.0	61.0	61.0					3																	52505964		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"""imidazoline receptor candidate"", ""I-1 receptor candidate protein"", ""imidazoline receptor antisera selected"""	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.544G>A	3.37:g.52505964G>A	ENSP00000418232:p.Asp182Asn	Somatic	985	WXS	Illumina GAIIx	Phase_IV	C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Missense_Mutation	SNP	pfam_Phox,pfam_Leu-rich_rpt,superfamily_Phox,smart_Phox,pfscan_Phox	p.D182N	ENST00000479054.1	37	c.544	CCDS33767.1	3	.	.	.	.	.	.	.	.	.	.	G	35	5.460001	0.96240	.	.	ENSG00000010322	ENST00000479054;ENST00000345716;ENST00000488380;ENST00000420808	T;T;T;T	0.11169	2.88;2.88;2.87;2.8	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.35770	0.0943	M	0.78801	2.425	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.73708	0.975;0.981	T	0.09185	-1.0686	10	0.87932	D	0	-35.649	17.4582	0.87613	0.0:0.0:1.0:0.0	.	182;182	Q9Y2I1;C9J715	NISCH_HUMAN;.	N	182	ENSP00000418232:D182N;ENSP00000339958:D182N;ENSP00000417812:D182N;ENSP00000392484:D182N	ENSP00000339958:D182N	D	+	1	0	NISCH	52481004	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	8.693000	0.91288	2.558000	0.86282	0.561000	0.74099	GAC	NISCH	-	NULL	ENSG00000010322		0.627	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NISCH	HGNC	protein_coding	OTTHUMT00000351357.1	21	0.00	0	G	NM_007184		52505964	52505964	+1	no_errors	ENST00000345716	ensembl	human	known	69_37n	missense	24	33.33	12	SNP	1.000	A
NKD2	85409	genome.wustl.edu	37	5	1034419	1034419	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:1034419G>C	ENST00000296849.5	+	6	629	c.400G>C	c.(400-402)Gac>Cac	p.D134H	NKD2_ENST00000274150.4_Missense_Mutation_p.D134H|NKD2_ENST00000537972.1_Missense_Mutation_p.D134H|NKD2_ENST00000382730.2_5'Flank	NM_033120.3	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	134	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.|Interaction with DVL1, DVL2 and DVL3. {ECO:0000250}.|Targeting to the basolateral cell membrane.				exocytosis (GO:0006887)|Golgi vesicle fusion to target membrane (GO:0048210)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein processing (GO:0010954)|protein targeting to plasma membrane (GO:0072661)|Wnt signaling pathway (GO:0016055)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cytoplasmic vesicle (GO:0031410)	calcium ion binding (GO:0005509)|growth factor binding (GO:0019838)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			CTATGACTTTGACAACTGCGG	0.627																																						dbGAP											0													137.0	101.0	113.0					5																	1034419		2202	4297	6499	-	-	-	SO:0001583	missense	0			AF358137	CCDS3859.1, CCDS59486.1	5p15.3	2013-01-10			ENSG00000145506	ENSG00000145506		"""EF-hand domain containing"""	17046	protein-coding gene	gene with protein product	"""naked cuticle-2"", ""Dvl-binding protein NKD2"""	607852				11356022, 11604995	Standard	NM_033120		Approved	Naked2	uc003jbt.2	Q969F2	OTTHUMG00000090348	ENST00000296849.5:c.400G>C	5.37:g.1034419G>C	ENSP00000296849:p.Asp134His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96EK8|Q9BSN0	Missense_Mutation	SNP	pfscan_EF_HAND_2	p.D134H	ENST00000296849.5	37	c.400	CCDS3859.1	5	.	.	.	.	.	.	.	.	.	.	G	15.68	2.904078	0.52333	.	.	ENSG00000145506	ENST00000296849;ENST00000274150;ENST00000537972	T;T;T	0.58358	0.34;0.34;0.34	3.65	3.65	0.41850	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.70684	0.3252	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.988	T	0.74853	-0.3523	10	0.87932	D	0	1.5484	10.8415	0.46718	0.0:0.0:1.0:0.0	.	134;134	Q969F2-2;Q969F2	.;NKD2_HUMAN	H	134	ENSP00000296849:D134H;ENSP00000274150:D134H;ENSP00000440925:D134H	ENSP00000274150:D134H	D	+	1	0	NKD2	1087419	1.000000	0.71417	0.991000	0.47740	0.274000	0.26718	5.776000	0.68924	1.595000	0.50050	0.555000	0.69702	GAC	NKD2	-	pfscan_EF_HAND_2	ENSG00000145506		0.627	NKD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NKD2	HGNC	protein_coding	OTTHUMT00000206720.2	65	0.00	0	G	NM_033120		1034419	1034419	+1	no_errors	ENST00000296849	ensembl	human	known	69_37n	missense	70	12.50	10	SNP	1.000	C
NKX2-2	4821	genome.wustl.edu	37	20	21492953	21492953	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:21492953C>T	ENST00000377142.4	-	2	786	c.430G>A	c.(430-432)Gag>Aag	p.E144K	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	144					astrocyte differentiation (GO:0048708)|brain development (GO:0007420)|digestive tract development (GO:0048565)|endocrine pancreas development (GO:0031018)|negative regulation of neuron differentiation (GO:0045665)|neuron fate specification (GO:0048665)|oligodendrocyte development (GO:0014003)|optic nerve development (GO:0021554)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell fate commitment (GO:0003327)|ventral spinal cord interneuron fate determination (GO:0060580)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|core promoter proximal region DNA binding (GO:0001159)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						AAGCGCCGCTCCAGCTCGTAG	0.672																																						dbGAP											0													22.0	25.0	24.0					20																	21492953		2202	4298	6500	-	-	-	SO:0001583	missense	0			AF019415	CCDS13145.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125820	ENSG00000125820		"""Homeoboxes / ANTP class : NKL subclass"""	7835	protein-coding gene	gene with protein product		604612	"""NK-2 (Drosophila) homolog B"", ""NK2 transcription factor related, locus 2 (Drosophila)"""	NKX2B		9703340, 1346742	Standard	NM_002509		Approved	NKX2.2	uc002wsi.3	O95096	OTTHUMG00000170524	ENST00000377142.4:c.430G>A	20.37:g.21492953C>T	ENSP00000366347:p.Glu144Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.E144K	ENST00000377142.4	37	c.430	CCDS13145.1	20	.	.	.	.	.	.	.	.	.	.	C	36	5.641017	0.96693	.	.	ENSG00000125820	ENST00000377142	D	0.97575	-4.44	4.98	4.98	0.66077	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98658	0.9550	M	0.89030	3	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99833	1.1055	10	0.87932	D	0	.	17.8583	0.88773	0.0:1.0:0.0:0.0	.	144	O95096	NKX22_HUMAN	K	144	ENSP00000366347:E144K	ENSP00000366347:E144K	E	-	1	0	NKX2-2	21440953	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.764000	0.85297	2.291000	0.77112	0.462000	0.41574	GAG	NKX2-2	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	ENSG00000125820		0.672	NKX2-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKX2-2	HGNC	protein_coding	OTTHUMT00000078278.9	44	0.00	0	C			21492953	21492953	-1	no_errors	ENST00000377142	ensembl	human	known	69_37n	missense	35	16.67	7	SNP	1.000	T
NLGN1	22871	genome.wustl.edu	37	3	173997124	173997124	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:173997124G>A	ENST00000457714.1	+	6	1762	c.1333G>A	c.(1333-1335)Gac>Aac	p.D445N	NLGN1_ENST00000466350.1_3'UTR|NLGN1_ENST00000401917.3_Missense_Mutation_p.D485N|NLGN1_ENST00000361589.4_Missense_Mutation_p.D445N|NLGN1_ENST00000545397.1_Missense_Mutation_p.D445N	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	462					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TGACTGGGCTGACCGTCATAA	0.413																																						dbGAP											0													105.0	103.0	104.0					3																	173997124		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.1333G>A	3.37:g.173997124G>A	ENSP00000392500:p.Asp445Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UPT2	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.D485N	ENST00000457714.1	37	c.1453	CCDS3222.1	3	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288299	0.80803	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.72463	0.3463	N	0.26162	0.8	0.80722	D	1	D;P	0.55605	0.972;0.82	P;B	0.61397	0.888;0.28	T	0.72070	-0.4401	10	0.48119	T	0.1	.	20.2561	0.98419	0.0:0.0:1.0:0.0	.	485;445	D2X2H5;Q8N2Q7-2	.;.	N	445;445;445;485	ENSP00000392500:D445N;ENSP00000354541:D445N;ENSP00000441108:D445N;ENSP00000385750:D485N	ENSP00000354541:D445N	D	+	1	0	NLGN1	175479818	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.797000	0.96272	0.563000	0.77884	GAC	NLGN1	-	pfam_CarbesteraseB	ENSG00000169760		0.413	NLGN1-001	KNOWN	basic|CCDS	protein_coding	NLGN1	HGNC	protein_coding	OTTHUMT00000347054.3	63	0.00	0	G	NM_014932		173997124	173997124	+1	no_errors	ENST00000401917	ensembl	human	known	69_37n	missense	83	12.50	12	SNP	1.000	A
NLGN1	22871	genome.wustl.edu	37	3	173998872	173998872	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:173998872G>C	ENST00000457714.1	+	7	2680	c.2251G>C	c.(2251-2253)Gag>Cag	p.E751Q	NLGN1_ENST00000401917.3_Missense_Mutation_p.E791Q|NLGN1_ENST00000361589.4_Missense_Mutation_p.E751Q|NLGN1_ENST00000545397.1_Missense_Mutation_p.E751Q	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	768					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TCATCCACATGAGGTGGTTCT	0.453																																						dbGAP											0													174.0	147.0	156.0					3																	173998872		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.2251G>C	3.37:g.173998872G>C	ENSP00000392500:p.Glu751Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UPT2	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.E791Q	ENST00000457714.1	37	c.2371	CCDS3222.1	3	.	.	.	.	.	.	.	.	.	.	G	23.9	4.473362	0.84640	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	5.6	5.6	0.85130	.	0.052569	0.85682	D	0.000000	T	0.64571	0.2610	L	0.29908	0.895	0.58432	D	0.999999	P	0.44344	0.833	P	0.46585	0.521	T	0.62191	-0.6906	10	0.36615	T	0.2	.	19.9737	0.97296	0.0:0.0:1.0:0.0	.	751	Q8N2Q7-2	.	Q	751;751;751;791	ENSP00000392500:E751Q;ENSP00000354541:E751Q;ENSP00000441108:E751Q;ENSP00000385750:E791Q	ENSP00000354541:E751Q	E	+	1	0	NLGN1	175481566	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.813000	0.99286	2.793000	0.96121	0.591000	0.81541	GAG	NLGN1	-	NULL	ENSG00000169760		0.453	NLGN1-001	KNOWN	basic|CCDS	protein_coding	NLGN1	HGNC	protein_coding	OTTHUMT00000347054.3	70	0.00	0	G	NM_014932		173998872	173998872	+1	no_errors	ENST00000401917	ensembl	human	known	69_37n	missense	83	14.43	14	SNP	1.000	C
CLUAP1	23059	genome.wustl.edu	37	16	3591874	3591874	+	IGR	SNP	A	A	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:3591874A>G	ENST00000576634.1	+	0	4163				NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000301749.7_RNA|LA16c-390H2.4_ENST00000573820.1_RNA	NM_015041.2	NP_055856.1	Q96AJ1	CLUA1_HUMAN	clusterin associated protein 1						cilium assembly (GO:0042384)	centrosome (GO:0005813)|cilium (GO:0005929)|intracellular membrane-bounded organelle (GO:0043231)|intraciliary transport particle B (GO:0030992)|nucleus (GO:0005634)				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(2)	16						GGCCTCTGAGATCATCCTGGC	0.532																																						dbGAP											0													65.0	64.0	64.0					16																	3591874		1956	4157	6113	-	-	-	SO:0001628	intergenic_variant	0			BC017070	CCDS32381.1, CCDS45398.1	16p13.3	2014-07-18				ENSG00000103351		"""Intraflagellar transport homologs"""	19009	protein-coding gene	gene with protein product	"""flagellar associated protein 22, qilin-like protein, homolog (Chlamydomonas)"", ""cilia and flagella associated protein 22"""					15480429, 9734811, 19253336	Standard	NM_015041		Approved	FLJ13297, KIAA0643, FAP22, CFAP22	uc002cvk.2	Q96AJ1			16.37:g.3591874A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	O75138|Q65ZA3|Q9H8R4|Q9H8T1	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase	p.I1096T	ENST00000576634.1	37	c.3287	CCDS32381.1	16	.	.	.	.	.	.	.	.	.	.	A	16.49	3.137293	0.56936	.	.	ENSG00000167984	ENST00000301749;ENST00000359128;ENST00000448023	T;T;T	0.55930	0.49;0.49;0.49	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.75982	0.3924	H	0.94345	3.525	0.25575	N	0.986855	D	0.55385	0.971	P	0.62298	0.9	T	0.72246	-0.4349	10	0.72032	D	0.01	.	10.6645	0.45721	1.0:0.0:0.0:0.0	.	1096	C9JLH9	.	T	1050;1021;1096	ENSP00000301749:I1050T;ENSP00000352039:I1021T;ENSP00000414415:I1096T	ENSP00000301749:I1050T	I	-	2	0	NLRC3	3531875	1.000000	0.71417	1.000000	0.80357	0.670000	0.39368	7.264000	0.78432	2.092000	0.63282	0.379000	0.24179	ATC	NLRC3	-	smart_Leu-rich_rpt_RNase_inh_sub-typ	ENSG00000167984		0.532	CLUAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRC3	HGNC	protein_coding	OTTHUMT00000437883.2	74	0.00	0	A	NM_024793		3591874	3591874	-1	no_errors	ENST00000448023	ensembl	human	known	69_37n	missense	58	44.76	47	SNP	1.000	G
NLRC3	197358	genome.wustl.edu	37	16	3602207	3602207	+	RNA	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:3602207C>T	ENST00000301749.7	-	0	2745				NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGAGCTCTTTCAGACTCCTGT	0.532																																						dbGAP											0													101.0	98.0	99.0					16																	3602207		1953	4144	6097	-	-	-			0			BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"""Nucleotide-binding domain and leucine rich repeat containing"""	29889	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3"", ""NOD-like receptor C3"""	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3602207C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	Missense_Mutation	SNP	NULL	p.E828K	ENST00000301749.7	37	c.2482		16																																																																																			NLRC3	-	NULL	ENSG00000167984		0.532	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	NLRC3	HGNC	polymorphic_pseudogene		106	0.00	0	C	NM_178844		3602207	3602207	-1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000574758	ensembl	human	known	69_37n	missense	61	29.89	26	SNP	1.000	T
NLRC4	58484	genome.wustl.edu	37	2	32460539	32460539	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:32460539C>T	ENST00000404025.2	-	9	3201	c.2713G>A	c.(2713-2715)Gag>Aag	p.E905K	NLRC4_ENST00000402280.1_Missense_Mutation_p.E905K|NLRC4_ENST00000360906.5_Missense_Mutation_p.E905K|NLRC4_ENST00000342905.6_Missense_Mutation_p.E240K			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	905					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TGTGGGACCTCCTCCAAATGT	0.498																																						dbGAP											0													161.0	152.0	155.0					2																	32460539		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.2713G>A	2.37:g.32460539C>T	ENSP00000385090:p.Glu905Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like,pfscan_NACHT_NTPase,pfscan_CARD	p.E905K	ENST00000404025.2	37	c.2713	CCDS33174.1	2	.	.	.	.	.	.	.	.	.	.	C	3.651	-0.071533	0.07228	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000342905;ENST00000404025	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	4.53	0.63	0.17693	.	0.456480	0.16288	N	0.221030	T	0.19406	0.0466	N	0.08118	0	0.24410	N	0.994666	B;B	0.12013	0.002;0.005	B;B	0.08055	0.002;0.003	T	0.36261	-0.9755	9	0.05833	T	0.94	-0.5972	6.7449	0.23456	0.0:0.5849:0.0:0.4151	.	240;905	Q9NPP4-2;Q9NPP4	.;NLRC4_HUMAN	K	905;905;240;905	ENSP00000354159:E905K;ENSP00000385428:E905K;ENSP00000339666:E240K;ENSP00000385090:E905K	ENSP00000339666:E240K	E	-	1	0	NLRC4	32314043	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.864000	0.01650	0.178000	0.19917	0.563000	0.77884	GAG	NLRC4	-	NULL	ENSG00000091106		0.498	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	NLRC4	HGNC	protein_coding	OTTHUMT00000325222.2	115	0.00	0	C	NM_021209		32460539	32460539	-1	no_errors	ENST00000360906	ensembl	human	known	69_37n	missense	79	23.30	24	SNP	0.000	T
NLRC4	58484	genome.wustl.edu	37	2	32466148	32466148	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:32466148G>C	ENST00000404025.2	-	6	2792	c.2304C>G	c.(2302-2304)ctC>ctG	p.L768L	NLRC4_ENST00000402280.1_Silent_p.L768L|NLRC4_ENST00000360906.5_Silent_p.L768L|NLRC4_ENST00000342905.6_Silent_p.L103L			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	768					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TATCCATTATGAGCTTTGTAA	0.333																																						dbGAP											0													215.0	208.0	210.0					2																	32466148		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.2304C>G	2.37:g.32466148G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Silent	SNP	pfam_CARD,superfamily_DEATH-like,pfscan_NACHT_NTPase,pfscan_CARD	p.L768	ENST00000404025.2	37	c.2304	CCDS33174.1	2																																																																																			NLRC4	-	NULL	ENSG00000091106		0.333	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	NLRC4	HGNC	protein_coding	OTTHUMT00000325222.2	284	0.00	0	G	NM_021209		32466148	32466148	-1	no_errors	ENST00000360906	ensembl	human	known	69_37n	silent	167	25.45	57	SNP	0.232	C
NLRC5	84166	genome.wustl.edu	37	16	57111211	57111211	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:57111211G>C	ENST00000262510.6	+	41	5064	c.4839G>C	c.(4837-4839)ttG>ttC	p.L1613F	NLRC5_ENST00000539144.1_Missense_Mutation_p.L1584F|NLRC5_ENST00000308149.7_Missense_Mutation_p.L1584F|NLRC5_ENST00000436936.1_3'UTR	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1613					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CCCCAAGCTTGAGCCACAACC	0.562																																						dbGAP											0													85.0	73.0	77.0					16																	57111211		2198	4300	6498	-	-	-	SO:0001583	missense	0			AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.4839G>C	16.37:g.57111211G>C	ENSP00000262510:p.Leu1613Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase	p.L1613F	ENST00000262510.6	37	c.4839	CCDS10773.1	16	.	.	.	.	.	.	.	.	.	.	G	16.49	3.138444	0.56936	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000539144	T;T;T	0.29397	1.57;1.57;1.57	5.06	4.1	0.47936	.	.	.	.	.	T	0.47284	0.1437	M	0.63208	1.945	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.35425	-0.9789	9	0.41790	T	0.15	.	8.456	0.32899	0.1038:0.0:0.8962:0.0	.	1613	Q86WI3	NLRC5_HUMAN	F	1613;1584;1584	ENSP00000262510:L1613F;ENSP00000308886:L1584F;ENSP00000441727:L1584F	ENSP00000262510:L1613F	L	+	3	2	NLRC5	55668712	0.999000	0.42202	1.000000	0.80357	0.767000	0.43475	0.370000	0.20433	2.349000	0.79799	0.655000	0.94253	TTG	NLRC5	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp	ENSG00000140853		0.562	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRC5	HGNC	protein_coding	OTTHUMT00000257346.1	34	0.00	0	G	NM_032206		57111211	57111211	+1	no_errors	ENST00000262510	ensembl	human	known	69_37n	missense	22	26.67	8	SNP	1.000	C
NLRP11	204801	genome.wustl.edu	37	19	56320646	56320646	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:56320646C>G	ENST00000589093.1	-	3	1423	c.1330G>C	c.(1330-1332)Gac>Cac	p.D444H	NLRP11_ENST00000360133.3_Missense_Mutation_p.D444H|NLRP11_ENST00000589824.2_Missense_Mutation_p.D444H|NLRP11_ENST00000592953.1_Missense_Mutation_p.D345H|NLRP11_ENST00000443188.1_Missense_Mutation_p.D444H			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	444	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TTGTAACGGTCTTTATGAGTG	0.468																																						dbGAP											0													61.0	62.0	62.0					19																	56320646		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.1330G>C	19.37:g.56320646C>G	ENSP00000466285:p.Asp444His	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.D444H	ENST00000589093.1	37	c.1330	CCDS12935.1	19	.	.	.	.	.	.	.	.	.	.	C	10.97	1.501723	0.26949	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.74842	-0.88;-0.81	2.2	-3.15	0.05233	.	.	.	.	.	T	0.68393	0.2996	L	0.38175	1.15	0.09310	N	1	P;P	0.48911	0.716;0.917	P;P	0.54499	0.572;0.754	T	0.59563	-0.7431	9	0.54805	T	0.06	.	3.3607	0.07185	0.0:0.3451:0.2135:0.4414	.	444;444	P59045;P59045-2	NAL11_HUMAN;.	H	444	ENSP00000409898:D444H;ENSP00000353251:D444H	ENSP00000353251:D444H	D	-	1	0	NLRP11	61012458	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.090000	0.03372	-0.653000	0.05401	-0.793000	0.03317	GAC	NLRP11	-	NULL	ENSG00000179873		0.468	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP11	HGNC	protein_coding	OTTHUMT00000453657.1	44	0.00	0	C	NM_145007		56320646	56320646	-1	no_errors	ENST00000443188	ensembl	human	known	69_37n	missense	40	24.53	13	SNP	0.000	G
NLRP13	126204	genome.wustl.edu	37	19	56443480	56443480	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:56443480C>G	ENST00000342929.3	-	1	197	c.198G>C	c.(196-198)ttG>ttC	p.L66F	NLRP13_ENST00000588751.1_Missense_Mutation_p.L66F	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	66	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.						ATP binding (GO:0005524)	p.L66F(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		AGGACAGATTCAAAGGGTCGG	0.542																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											65.0	66.0	66.0					19																	56443480		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.198G>C	19.37:g.56443480C>G	ENSP00000343891:p.Leu66Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7RTR5	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.L66F	ENST00000342929.3	37	c.198	CCDS33119.1	19	.	.	.	.	.	.	.	.	.	.	C	1.685	-0.505594	0.04261	.	.	ENSG00000173572	ENST00000342929	T	0.52057	0.68	1.97	-3.53	0.04667	Pyrin (2);DEATH-like (2);	.	.	.	.	T	0.29914	0.0748	L	0.38175	1.15	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.17137	-1.0379	9	0.54805	T	0.06	.	2.0658	0.03602	0.1784:0.3923:0.2953:0.134	.	66	Q86W25	NAL13_HUMAN	F	66	ENSP00000343891:L66F	ENSP00000343891:L66F	L	-	3	2	NLRP13	61135292	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.726000	0.01861	-1.565000	0.01676	-1.273000	0.01405	TTG	NLRP13	-	pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN	ENSG00000173572		0.542	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP13	HGNC	protein_coding	OTTHUMT00000396560.1	37	0.00	0	C	NM_176810		56443480	56443480	-1	no_errors	ENST00000342929	ensembl	human	known	69_37n	missense	28	22.22	8	SNP	0.000	G
NLRP14	338323	genome.wustl.edu	37	11	7064922	7064922	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:7064922G>A	ENST00000299481.4	+	4	2011	c.1665G>A	c.(1663-1665)aaG>aaA	p.K555K		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	555					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TGTCACTGAAGATAAAATCAA	0.378																																						dbGAP											0													69.0	69.0	69.0					11																	7064922		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.1665G>A	11.37:g.7064922G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q7RTR6	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.K555	ENST00000299481.4	37	c.1665	CCDS7776.1	11																																																																																			NLRP14	-	NULL	ENSG00000158077		0.378	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP14	HGNC	protein_coding	OTTHUMT00000384551.1	56	0.00	0	G	NM_176822		7064922	7064922	+1	no_errors	ENST00000299481	ensembl	human	known	69_37n	silent	83	13.40	13	SNP	0.000	A
NLRP3	114548	genome.wustl.edu	37	1	247588671	247588671	+	Missense_Mutation	SNP	C	C	A	rs34698071	byFrequency	TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:247588671C>A	ENST00000336119.3	+	3	2672	c.1926C>A	c.(1924-1926)ttC>ttA	p.F642L	NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391827.2_Missense_Mutation_p.F642L|NLRP3_ENST00000348069.2_Missense_Mutation_p.F642L|NLRP3_ENST00000366496.2_Missense_Mutation_p.F642L|NLRP3_ENST00000366497.2_Missense_Mutation_p.F642L|NLRP3_ENST00000391828.3_Missense_Mutation_p.F642L	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	642					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AGGAGGACTTCGTGCAAAGGG	0.468																																						dbGAP											0													83.0	72.0	76.0					1																	247588671		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.1926C>A	1.37:g.247588671C>A	ENSP00000337383:p.Phe642Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.F642L	ENST00000336119.3	37	c.1926	CCDS1632.1	1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.150326	0.37923	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	D;D;D;D;D;D	0.89050	-2.46;-2.46;-2.46;-2.46;-2.46;-2.46	3.96	0.121	0.14695	.	0.000000	0.50627	D	0.000113	D	0.89030	0.6599	L	0.46741	1.465	0.32422	N	0.549269	P;D;D;D;P	0.76494	0.823;0.975;0.999;0.994;0.947	P;P;D;D;P	0.85130	0.752;0.707;0.997;0.956;0.765	D	0.85048	0.0927	10	0.23891	T	0.37	.	6.0666	0.19866	0.0:0.338:0.0:0.662	.	642;642;642;642;642	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	L	642	ENSP00000375704:F642L;ENSP00000355453:F642L;ENSP00000337383:F642L;ENSP00000294752:F642L;ENSP00000355452:F642L;ENSP00000375703:F642L	ENSP00000337383:F642L	F	+	3	2	NLRP3	245655294	0.009000	0.17119	0.996000	0.52242	0.948000	0.59901	-0.935000	0.03950	0.042000	0.15717	-0.290000	0.09829	TTC	NLRP3	-	NULL	ENSG00000162711		0.468	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP3	HGNC	protein_coding	OTTHUMT00000097740.1	83	0.00	0	C	NM_004895		247588671	247588671	+1	no_errors	ENST00000336119	ensembl	human	known	69_37n	missense	61	35.79	34	SNP	0.986	A
NLRP7	199713	genome.wustl.edu	37	19	55449562	55449562	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:55449562G>C	ENST00000590030.1	-	4	2019	c.1979C>G	c.(1978-1980)tCt>tGt	p.S660C	NLRP7_ENST00000446217.1_Missense_Mutation_p.S688C|NLRP7_ENST00000592784.1_Missense_Mutation_p.S660C|NLRP7_ENST00000448121.2_Intron|NLRP7_ENST00000328092.5_Intron|NLRP7_ENST00000340844.2_Missense_Mutation_p.S660C|NLRP7_ENST00000588756.1_Missense_Mutation_p.S660C			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	660							ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GAGGCGAAGAGAGCGAAGATC	0.502																																						dbGAP											0													107.0	103.0	104.0					19																	55449562		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.1979C>G	19.37:g.55449562G>C	ENSP00000465520:p.Ser660Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.S688C	ENST00000590030.1	37	c.2063	CCDS33109.1	19	.	.	.	.	.	.	.	.	.	.	G	9.975	1.226452	0.22542	.	.	ENSG00000167634	ENST00000328092;ENST00000340844;ENST00000446217;ENST00000399724	T;T;T	0.55930	0.49;0.54;0.54	2.09	-4.17	0.03857	.	.	.	.	.	T	0.46639	0.1403	L	0.43152	1.355	0.09310	N	1	D;D;D	0.63880	0.993;0.993;0.993	P;P;P	0.54664	0.758;0.659;0.659	T	0.35525	-0.9785	9	0.48119	T	0.1	.	1.2364	0.01954	0.228:0.3008:0.319:0.1522	.	688;660;660	E7EPM2;Q32MH9;Q8WX94	.;.;NALP7_HUMAN	C	660;660;688;427	ENSP00000329568:S660C;ENSP00000339491:S660C;ENSP00000414273:S688C	ENSP00000329568:S660C	S	-	2	0	NLRP7	60141374	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.084000	0.11268	-1.301000	0.02338	0.561000	0.74099	TCT	NLRP7	-	NULL	ENSG00000167634		0.502	NLRP7-003	KNOWN	basic|CCDS	protein_coding	NLRP7	HGNC	protein_coding	OTTHUMT00000451396.1	35	0.00	0	G	NM_139176		55449562	55449562	-1	no_errors	ENST00000446217	ensembl	human	known	69_37n	missense	27	35.71	15	SNP	0.000	C
NLRP7	199713	genome.wustl.edu	37	19	55450564	55450564	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:55450564C>T	ENST00000590030.1	-	3	1663	c.1623G>A	c.(1621-1623)cgG>cgA	p.R541R	NLRP7_ENST00000446217.1_Silent_p.R569R|NLRP7_ENST00000592784.1_Silent_p.R541R|NLRP7_ENST00000448121.2_Silent_p.R541R|NLRP7_ENST00000328092.5_Silent_p.R541R|NLRP7_ENST00000340844.2_Silent_p.R541R|NLRP7_ENST00000588756.1_Silent_p.R541R			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	541							ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CCGGTGACATCCGGCAGCCAA	0.512																																						dbGAP											0													73.0	76.0	75.0					19																	55450564		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.1623G>A	19.37:g.55450564C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	E9PE16|Q32MH8|Q7RTR1	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.R569	ENST00000590030.1	37	c.1707	CCDS33109.1	19																																																																																			NLRP7	-	NULL	ENSG00000167634		0.512	NLRP7-003	KNOWN	basic|CCDS	protein_coding	NLRP7	HGNC	protein_coding	OTTHUMT00000451396.1	60	0.00	0	C	NM_139176		55450564	55450564	-1	no_errors	ENST00000446217	ensembl	human	known	69_37n	silent	43	25.86	15	SNP	0.000	T
NLRP7	199713	genome.wustl.edu	37	19	55450673	55450673	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:55450673G>C	ENST00000590030.1	-	3	1554	c.1514C>G	c.(1513-1515)tCc>tGc	p.S505C	NLRP7_ENST00000446217.1_Missense_Mutation_p.S533C|NLRP7_ENST00000592784.1_Missense_Mutation_p.S505C|NLRP7_ENST00000448121.2_Missense_Mutation_p.S505C|NLRP7_ENST00000328092.5_Missense_Mutation_p.S505C|NLRP7_ENST00000340844.2_Missense_Mutation_p.S505C|NLRP7_ENST00000588756.1_Missense_Mutation_p.S505C			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	505							ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TTCTTCTCCGGAAAGCAGCTT	0.562																																						dbGAP											0													80.0	79.0	79.0					19																	55450673		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.1514C>G	19.37:g.55450673G>C	ENSP00000465520:p.Ser505Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.S533C	ENST00000590030.1	37	c.1598	CCDS33109.1	19	.	.	.	.	.	.	.	.	.	.	G	12.17	1.856306	0.32791	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724	T;T;T;T	0.74632	-0.82;-0.82;-0.86;-0.83	2.34	2.34	0.29019	.	0.000000	0.32314	N	0.006277	T	0.79919	0.4529	L	0.54323	1.7	0.09310	N	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.996;0.99;0.99;0.996	T	0.66964	-0.5790	10	0.72032	D	0.01	.	8.2529	0.31737	0.0:0.0:1.0:0.0	.	533;505;505;505	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	C	505;505;505;533;272	ENSP00000329568:S505C;ENSP00000409137:S505C;ENSP00000339491:S505C;ENSP00000414273:S533C	ENSP00000329568:S505C	S	-	2	0	NLRP7	60142485	0.001000	0.12720	0.018000	0.16275	0.002000	0.02628	0.761000	0.26489	1.629000	0.50426	0.462000	0.41574	TCC	NLRP7	-	NULL	ENSG00000167634		0.562	NLRP7-003	KNOWN	basic|CCDS	protein_coding	NLRP7	HGNC	protein_coding	OTTHUMT00000451396.1	53	0.00	0	G	NM_139176		55450673	55450673	-1	no_errors	ENST00000446217	ensembl	human	known	69_37n	missense	60	28.57	24	SNP	0.013	C
NLRX1	79671	genome.wustl.edu	37	11	119045285	119045285	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:119045285C>T	ENST00000409109.1	+	6	1560	c.973C>T	c.(973-975)Cgc>Tgc	p.R325C	NLRX1_ENST00000292199.2_Missense_Mutation_p.R325C|NLRX1_ENST00000409265.4_Missense_Mutation_p.R325C|NLRX1_ENST00000409991.1_Missense_Mutation_p.R325C|NLRX1_ENST00000525863.1_Missense_Mutation_p.R325C	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	325	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Required for interaction with MAVS.			R -> C (in Ref. 4; BAG53014). {ECO:0000305}.	innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CTTCCAGCTCCGCCTCAACCA	0.602																																						dbGAP											0													107.0	108.0	108.0					11																	119045285		2200	4295	6495	-	-	-	SO:0001583	missense	0			AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"""Nucleotide-binding domain and leucine rich repeat containing"""	29890	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat containing X1"", ""NOD-like receptor X1"", ""NLR family, X1"""	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.973C>T	11.37:g.119045285C>T	ENSP00000387334:p.Arg325Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase	p.R325C	ENST00000409109.1	37	c.973	CCDS8416.1	11	.	.	.	.	.	.	.	.	.	.	C	17.86	3.492098	0.64074	.	.	ENSG00000160703	ENST00000409991;ENST00000292199;ENST00000409265;ENST00000409109;ENST00000525863	T;T;T;T;T	0.75589	-0.86;-0.86;-0.95;-0.86;-0.95	6.07	5.16	0.70880	.	0.069243	0.64402	N	0.000009	D	0.86347	0.5911	M	0.84948	2.725	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.65874	0.917;0.939	D	0.87618	0.2508	10	0.48119	T	0.1	.	15.1301	0.72517	0.0:0.9329:0.0:0.0671	.	325;325	Q86UT6-2;Q86UT6	.;NLRX1_HUMAN	C	325	ENSP00000386851:R325C;ENSP00000292199:R325C;ENSP00000386858:R325C;ENSP00000387334:R325C;ENSP00000433442:R325C	ENSP00000292199:R325C	R	+	1	0	NLRX1	118550495	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	3.584000	0.53936	1.581000	0.49865	0.655000	0.94253	CGC	NLRX1	-	NULL	ENSG00000160703		0.602	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NLRX1	HGNC	protein_coding	OTTHUMT00000335403.1	51	0.00	0	C	NM_170722		119045285	119045285	+1	no_errors	ENST00000292199	ensembl	human	known	69_37n	missense	24	38.46	15	SNP	1.000	T
NMI	9111	genome.wustl.edu	37	2	152139444	152139444	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:152139444C>T	ENST00000243346.5	-	2	489	c.19G>A	c.(19-21)Gac>Aac	p.D7N		NM_004688.2	NP_004679.2	Q13287	NMI_HUMAN	N-myc (and STAT) interactor	7					inflammatory response (GO:0006954)|JAK-STAT cascade (GO:0007259)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription cofactor activity (GO:0003712)			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				BRCA - Breast invasive adenocarcinoma(221;0.0571)		TGTTGTGTGTCATCTTTATCA	0.244																																						dbGAP											0													54.0	54.0	54.0					2																	152139444		2199	4291	6490	-	-	-	SO:0001583	missense	0			U32849	CCDS2192.1	2q23	2008-05-23			ENSG00000123609	ENSG00000123609			7854	protein-coding gene	gene with protein product		603525				8668343, 9989503	Standard	NM_004688		Approved		uc002txi.2	Q13287	OTTHUMG00000131867	ENST00000243346.5:c.19G>A	2.37:g.152139444C>T	ENSP00000243346:p.Asp7Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B5BU69|Q53TI8|Q9BVE5	Missense_Mutation	SNP	pfam_Nmi/IFP35,pfam_Interferon_induced_35kDa_N	p.D7N	ENST00000243346.5	37	c.19	CCDS2192.1	2	.	.	.	.	.	.	.	.	.	.	C	5.198	0.222104	0.09863	.	.	ENSG00000123609	ENST00000243346;ENST00000414946	T;T	0.71698	1.59;-0.59	3.82	0.103	0.14526	.	1.710450	0.03195	N	0.173856	T	0.29423	0.0733	N	0.00436	-1.5	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.49818	-0.8899	10	0.02654	T	1	-1.7085	1.1781	0.01839	0.1826:0.1055:0.1896:0.5223	.	7;7;7	B4DQD4;C9JW17;Q13287	.;.;NMI_HUMAN	N	7	ENSP00000243346:D7N;ENSP00000387373:D7N	ENSP00000243346:D7N	D	-	1	0	NMI	151847690	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.332000	0.07904	0.017000	0.15025	-0.417000	0.06048	GAC	NMI	-	NULL	ENSG00000123609		0.244	NMI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMI	HGNC	protein_coding	OTTHUMT00000254817.2	136	0.00	0	C	NM_004688		152139444	152139444	-1	no_errors	ENST00000243346	ensembl	human	known	69_37n	missense	82	38.35	51	SNP	0.000	T
NMUR1	10316	genome.wustl.edu	37	2	232393432	232393432	+	Missense_Mutation	SNP	G	G	T	rs139992213	byFrequency	TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:232393432G>T	ENST00000305141.4	-	2	433	c.300C>A	c.(298-300)ttC>ttA	p.F100L		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	100					activation of phospholipase C activity (GO:0007202)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|chloride transport (GO:0006821)|G-protein coupled receptor signaling pathway (GO:0007186)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|smooth muscle contraction (GO:0006939)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuromedin U receptor activity (GO:0001607)|neuropeptide receptor activity (GO:0008188)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CGGCCAGGCTGAAGAGGTAGT	0.627																																						dbGAP											0													89.0	91.0	90.0					2																	232393432		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF044600	CCDS2486.1	2q37.1	2012-08-08	2004-05-27	2004-05-28	ENSG00000171596	ENSG00000171596		"""GPCR / Class A : Neuromedin U receptors"""	4518	protein-coding gene	gene with protein product		604153	"""G protein-coupled receptor 66"""	GPR66		9782091	Standard	NM_006056		Approved	GPC-R, FM-3, NMU1R	uc002vry.4	Q9HB89	OTTHUMG00000133225	ENST00000305141.4:c.300C>A	2.37:g.232393432G>T	ENSP00000305877:p.Phe100Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	O43664|Q7LDP6|Q8NE20	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_NeuromedU_rcpt_1,prints_NeuromedU_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.F100L	ENST00000305141.4	37	c.300	CCDS2486.1	2	.	.	.	.	.	.	.	.	.	.	g	17.79	3.475097	0.63737	.	.	ENSG00000171596	ENST00000305141	T	0.68903	-0.36	5.21	5.21	0.72293	GPCR, rhodopsin-like superfamily (1);	0.280602	0.41605	N	0.000852	T	0.51193	0.1660	N	0.13299	0.325	0.58432	D	0.999994	B	0.18863	0.031	B	0.29785	0.107	T	0.49466	-0.8937	10	0.39692	T	0.17	-21.3141	11.2988	0.49294	0.0837:0.0:0.9163:0.0	.	100	Q9HB89	NMUR1_HUMAN	L	100	ENSP00000305877:F100L	ENSP00000305877:F100L	F	-	3	2	NMUR1	232101676	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.771000	0.62318	2.448000	0.82819	0.555000	0.69702	TTC	NMUR1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000171596		0.627	NMUR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMUR1	HGNC	protein_coding	OTTHUMT00000256961.1	42	0.00	0	G	NM_006056		232393432	232393432	-1	no_errors	ENST00000305141	ensembl	human	known	69_37n	missense	42	19.23	10	SNP	1.000	T
NMUR1	10316	genome.wustl.edu	37	2	232393706	232393706	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:232393706G>C	ENST00000305141.4	-	2	159	c.26C>G	c.(25-27)tCt>tGt	p.S9C		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	9					activation of phospholipase C activity (GO:0007202)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|chloride transport (GO:0006821)|G-protein coupled receptor signaling pathway (GO:0007186)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|smooth muscle contraction (GO:0006939)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuromedin U receptor activity (GO:0001607)|neuropeptide receptor activity (GO:0008188)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		AGGGAGGACAGAGCAATTGAG	0.572																																						dbGAP											0													32.0	35.0	34.0					2																	232393706		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF044600	CCDS2486.1	2q37.1	2012-08-08	2004-05-27	2004-05-28	ENSG00000171596	ENSG00000171596		"""GPCR / Class A : Neuromedin U receptors"""	4518	protein-coding gene	gene with protein product		604153	"""G protein-coupled receptor 66"""	GPR66		9782091	Standard	NM_006056		Approved	GPC-R, FM-3, NMU1R	uc002vry.4	Q9HB89	OTTHUMG00000133225	ENST00000305141.4:c.26C>G	2.37:g.232393706G>C	ENSP00000305877:p.Ser9Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	O43664|Q7LDP6|Q8NE20	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_NeuromedU_rcpt_1,prints_NeuromedU_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.S9C	ENST00000305141.4	37	c.26	CCDS2486.1	2	.	.	.	.	.	.	.	.	.	.	g	36	5.727329	0.96847	.	.	ENSG00000171596	ENST00000305141	T	0.67865	-0.29	5.2	5.2	0.72013	.	1.455670	0.04519	N	0.384263	T	0.79639	0.4480	L	0.51422	1.61	0.32687	N	0.514642	D	0.71674	0.998	P	0.61397	0.888	T	0.70328	-0.4902	10	0.87932	D	0	-24.2622	15.5102	0.75776	0.0:0.0:1.0:0.0	.	9	Q9HB89	NMUR1_HUMAN	C	9	ENSP00000305877:S9C	ENSP00000305877:S9C	S	-	2	0	NMUR1	232101950	0.999000	0.42202	0.522000	0.27862	0.859000	0.49053	2.225000	0.42954	2.443000	0.82685	0.549000	0.68633	TCT	NMUR1	-	NULL	ENSG00000171596		0.572	NMUR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMUR1	HGNC	protein_coding	OTTHUMT00000256961.1	31	0.00	0	G	NM_006056		232393706	232393706	-1	no_errors	ENST00000305141	ensembl	human	known	69_37n	missense	28	15.15	5	SNP	0.927	C
NMUR2	56923	genome.wustl.edu	37	5	151771983	151771983	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:151771983C>T	ENST00000255262.3	-	4	1182	c.1017G>A	c.(1015-1017)caG>caA	p.Q339Q		NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	339					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|arachidonic acid secretion (GO:0050482)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell-cell signaling (GO:0007267)|central nervous system development (GO:0007417)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|feeding behavior (GO:0007631)|grooming behavior (GO:0007625)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|reduction of food intake in response to dietary excess (GO:0002023)|regulation of smooth muscle contraction (GO:0006940)|response to pain (GO:0048265)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|GTP binding (GO:0005525)|intracellular calcium activated chloride channel activity (GO:0005229)|neuromedin U binding (GO:0042924)|neuromedin U receptor activity (GO:0001607)			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			AGATCACATTCTGGAATGCTG	0.507																																						dbGAP											0													133.0	126.0	128.0					5																	151771983		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF242874	CCDS4321.1	5q33.1	2012-08-08		2004-05-28	ENSG00000132911	ENSG00000132911		"""GPCR / Class A : Neuromedin U receptors"""	16454	protein-coding gene	gene with protein product		605108		NMU2R		8940772, 10894543	Standard	NM_020167		Approved		uc003luv.2	Q9GZQ4	OTTHUMG00000130131	ENST00000255262.3:c.1017G>A	5.37:g.151771983C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q7LC54|Q96AM5|Q9NRA6	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_NeuromedU_rcpt_2,prints_NeuromedU_rcpt,prints_7TM_GPCR_Rhodpsn	p.Q339	ENST00000255262.3	37	c.1017	CCDS4321.1	5																																																																																			NMUR2	-	pfam_7TM_GPCR_olfarory/Srsx	ENSG00000132911		0.507	NMUR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMUR2	HGNC	protein_coding	OTTHUMT00000252439.1	60	0.00	0	C	NM_020167		151771983	151771983	-1	no_errors	ENST00000255262	ensembl	human	known	69_37n	silent	49	16.95	10	SNP	0.539	T
NOBOX	135935	genome.wustl.edu	37	7	144097244	144097244	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:144097244C>T	ENST00000467773.1	-	5	1005	c.1006G>A	c.(1006-1008)Gaa>Aaa	p.E336K	NOBOX_ENST00000223140.5_Intron|NOBOX_ENST00000483238.1_Intron	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	336					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					TCGAGTGTTTCAATGGTGGGC	0.622																																						dbGAP											0													50.0	52.0	52.0					7																	144097244		2028	4188	6216	-	-	-	SO:0001583	missense	0					7q35	2011-06-20			ENSG00000106410	ENSG00000106410		"""Homeoboxes / PRD class"""	22448	protein-coding gene	gene with protein product	"""newborn ovary homeobox-encoding gene"""	610934				11804785, 16597639	Standard	NM_001080413		Approved	OG2, Og2x	uc022aoj.1	O60393	OTTHUMG00000158051	ENST00000467773.1:c.1006G>A	7.37:g.144097244C>T	ENSP00000419457:p.Glu336Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NCD3|A8MZN5	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.E336K	ENST00000467773.1	37	c.1006		7	.	.	.	.	.	.	.	.	.	.	C	10.43	1.346873	0.24426	.	.	ENSG00000106410	ENST00000467773	D	0.93019	-3.15	4.5	0.902	0.19290	Homeobox (2);	.	.	.	.	D	0.87454	0.6181	L	0.45352	1.415	0.09310	N	1	B	0.19706	0.038	B	0.14578	0.011	T	0.75844	-0.3174	9	0.45353	T	0.12	.	3.0324	0.06111	0.2239:0.5333:0.0:0.2428	.	336	O60393	NOBOX_HUMAN	K	336	ENSP00000419457:E336K	ENSP00000419457:E336K	E	-	1	0	NOBOX	143728177	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.483000	0.22292	0.044000	0.15775	0.650000	0.86243	GAA	NOBOX	-	smart_Homeodomain,pfscan_Homeodomain	ENSG00000106410		0.622	NOBOX-002	KNOWN	basic	protein_coding	NOBOX	HGNC	protein_coding	OTTHUMT00000350095.1	52	0.00	0	C	XM_001134420		144097244	144097244	-1	no_errors	ENST00000467773	ensembl	human	known	69_37n	missense	47	11.32	6	SNP	0.000	T
NOBOX	135935	genome.wustl.edu	37	7	144097267	144097267	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:144097267C>A	ENST00000467773.1	-	5	982	c.983G>T	c.(982-984)tGg>tTg	p.W328L	NOBOX_ENST00000223140.5_Intron|NOBOX_ENST00000483238.1_Intron	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	328					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					TCCGCCACTCCACCCTGCCAC	0.607																																						dbGAP											0													52.0	55.0	54.0					7																	144097267		1989	4154	6143	-	-	-	SO:0001583	missense	0					7q35	2011-06-20			ENSG00000106410	ENSG00000106410		"""Homeoboxes / PRD class"""	22448	protein-coding gene	gene with protein product	"""newborn ovary homeobox-encoding gene"""	610934				11804785, 16597639	Standard	NM_001080413		Approved	OG2, Og2x	uc022aoj.1	O60393	OTTHUMG00000158051	ENST00000467773.1:c.983G>T	7.37:g.144097267C>A	ENSP00000419457:p.Trp328Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NCD3|A8MZN5	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.W328L	ENST00000467773.1	37	c.983		7	.	.	.	.	.	.	.	.	.	.	C	2.243	-0.373354	0.05034	.	.	ENSG00000106410	ENST00000467773	D	0.92149	-2.98	4.77	-8.41	0.00961	Homeobox (2);	.	.	.	.	T	0.77552	0.4147	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.63497	-0.6624	9	0.37606	T	0.19	.	1.0395	0.01556	0.4146:0.1783:0.1031:0.304	.	328	O60393	NOBOX_HUMAN	L	328	ENSP00000419457:W328L	ENSP00000419457:W328L	W	-	2	0	NOBOX	143728200	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.924000	0.03996	-1.468000	0.01892	-1.440000	0.01072	TGG	NOBOX	-	smart_Homeodomain,pfscan_Homeodomain	ENSG00000106410		0.607	NOBOX-002	KNOWN	basic	protein_coding	NOBOX	HGNC	protein_coding	OTTHUMT00000350095.1	53	0.00	0	C	XM_001134420		144097267	144097267	-1	no_errors	ENST00000467773	ensembl	human	known	69_37n	missense	39	27.78	15	SNP	0.000	A
NOL11	25926	genome.wustl.edu	37	17	65714082	65714082	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:65714082G>C	ENST00000253247.4	+	1	134	c.19G>C	c.(19-21)Gaa>Caa	p.E7Q	NOL11_ENST00000535137.1_5'UTR|NOL11_ENST00000581966.1_3'UTR	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	7					maturation of SSU-rRNA (GO:0030490)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			GCTGGAGGAAGAATTCACGTT	0.597											OREG0024682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													56.0	51.0	53.0					17																	65714082		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK023702	CCDS11671.1	17q24.2	2005-08-08							24557	protein-coding gene	gene with protein product		615366				12477932	Standard	NM_015462		Approved	DKFZP586L0724	uc002jgd.1	Q9H8H0		ENST00000253247.4:c.19G>C	17.37:g.65714082G>C	ENSP00000253247:p.Glu7Gln	Somatic	1086	WXS	Illumina GAIIx	Phase_IV	B7Z5V9|Q7L5S1|Q9UG18	Missense_Mutation	SNP	pfam_NUC205	p.E7Q	ENST00000253247.4	37	c.19	CCDS11671.1	17	.	.	.	.	.	.	.	.	.	.	G	12.70	2.016268	0.35606	.	.	ENSG00000130935	ENST00000253247	T	0.46451	0.87	4.91	4.91	0.64330	.	0.406631	0.28694	N	0.014451	T	0.34832	0.0911	L	0.40543	1.245	0.80722	D	1	P	0.36048	0.534	B	0.34722	0.188	T	0.08371	-1.0725	10	0.26408	T	0.33	-7.0246	15.4652	0.75394	0.0:0.0:1.0:0.0	.	7	Q9H8H0	NOL11_HUMAN	Q	7	ENSP00000253247:E7Q	ENSP00000253247:E7Q	E	+	1	0	NOL11	63144544	0.998000	0.40836	0.181000	0.23098	0.516000	0.34256	6.615000	0.74201	2.716000	0.92895	0.561000	0.74099	GAA	NOL11	-	NULL	ENSG00000130935		0.597	NOL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOL11	HGNC	protein_coding	OTTHUMT00000448074.1	37	0.00	0	G	NM_015462		65714082	65714082	+1	no_errors	ENST00000253247	ensembl	human	known	69_37n	missense	44	24.14	14	SNP	0.510	C
NOL4	8715	genome.wustl.edu	37	18	31523138	31523138	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr18:31523138C>T	ENST00000261592.5	-	9	1730	c.1433G>A	c.(1432-1434)cGa>cAa	p.R478Q	NOL4_ENST00000269185.4_Intron|NOL4_ENST00000538587.1_Missense_Mutation_p.R404Q|NOL4_ENST00000535475.1_Missense_Mutation_p.R259Q|NOL4_ENST00000589544.1_Intron|NOL4_ENST00000535384.1_Missense_Mutation_p.R193Q	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	478						nucleolus (GO:0005730)	RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						AGGAATAGGTCGAGACTAAAA	0.408																																						dbGAP											0													62.0	59.0	60.0					18																	31523138		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"""cancer/testis antigen 125"""	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.1433G>A	18.37:g.31523138C>T	ENSP00000261592:p.Arg478Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Missense_Mutation	SNP	NULL	p.R478Q	ENST00000261592.5	37	c.1433	CCDS11907.2	18	.	.	.	.	.	.	.	.	.	.	C	32	5.113165	0.94339	.	.	ENSG00000101746	ENST00000261592;ENST00000399171;ENST00000535384;ENST00000535475;ENST00000538587	.	.	.	5.94	5.94	0.96194	.	0.000000	0.64402	D	0.000011	T	0.74122	0.3675	M	0.70595	2.14	0.24743	N	0.993024	D;D;D;D;D;D	0.89917	0.999;1.0;0.999;0.999;1.0;1.0	D;D;D;D;D;D	0.91635	0.99;0.998;0.934;0.987;0.998;0.999	T	0.67597	-0.5630	9	0.87932	D	0	-10.2041	20.3501	0.98811	0.0:1.0:0.0:0.0	.	163;193;404;478;193;259	F8W825;B7Z3Z7;B4DSQ0;O94818;F5H1E3;B3KRF4	.;.;.;NOL4_HUMAN;.;.	Q	478;163;193;259;404	.	ENSP00000261592:R478Q	R	-	2	0	NOL4	29777136	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.830000	0.75319	2.807000	0.96579	0.650000	0.86243	CGA	NOL4	-	NULL	ENSG00000101746		0.408	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOL4	HGNC	protein_coding	OTTHUMT00000255386.1	43	0.00	0	C	NM_003787		31523138	31523138	-1	no_errors	ENST00000261592	ensembl	human	known	69_37n	missense	22	35.29	12	SNP	1.000	T
NOL8	55035	genome.wustl.edu	37	9	95062252	95062252	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:95062252C>T	ENST00000535387.1	-	12	3107	c.3108G>A	c.(3106-3108)caG>caA	p.Q1036Q	NOL8_ENST00000358855.4_Silent_p.Q1006Q|NOL8_ENST00000542053.1_Silent_p.Q1006Q|NOL8_ENST00000545558.1_Silent_p.Q1074Q|NOL8_ENST00000442668.2_Silent_p.Q1074Q					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						GAGGGTCTTCCTGCCAGACAA	0.408																																						dbGAP											0													245.0	232.0	236.0					9																	95062252		1856	4113	5969	-	-	-	SO:0001819	synonymous_variant	0			AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"""RNA binding motif (RRM) containing"""	23387	protein-coding gene	gene with protein product		611534	"""chromosome 9 open reading frame 34"""	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.3108G>A	9.37:g.95062252C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.Q1074	ENST00000535387.1	37	c.3222	CCDS47993.1	9																																																																																			NOL8	-	NULL	ENSG00000198000		0.408	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	NOL8	HGNC	protein_coding	OTTHUMT00000053082.2	167	0.00	0	C	NM_017948		95062252	95062252	-1	no_errors	ENST00000442668	ensembl	human	known	69_37n	silent	172	15.69	32	SNP	0.993	T
NOL8	55035	genome.wustl.edu	37	9	95077077	95077077	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:95077077G>A	ENST00000535387.1	-	6	1829	c.1830C>T	c.(1828-1830)atC>atT	p.I610I	NOL8_ENST00000358855.4_Silent_p.I542I|NOL8_ENST00000542053.1_Silent_p.I542I|NOL8_ENST00000545558.1_Silent_p.I610I|NOL8_ENST00000442668.2_Silent_p.I610I					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						CCATGGATATGATACTGGGAT	0.408																																						dbGAP											0													82.0	72.0	75.0					9																	95077077		1890	4118	6008	-	-	-	SO:0001819	synonymous_variant	0			AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"""RNA binding motif (RRM) containing"""	23387	protein-coding gene	gene with protein product		611534	"""chromosome 9 open reading frame 34"""	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.1830C>T	9.37:g.95077077G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.I610	ENST00000535387.1	37	c.1830	CCDS47993.1	9																																																																																			NOL8	-	NULL	ENSG00000198000		0.408	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	NOL8	HGNC	protein_coding	OTTHUMT00000053082.2	129	0.00	0	G	NM_017948		95077077	95077077	-1	no_errors	ENST00000442668	ensembl	human	known	69_37n	silent	85	20.56	22	SNP	0.000	A
NOMO1	23420	genome.wustl.edu	37	16	14935257	14935257	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:14935257G>A	ENST00000287667.7	+	3	465	c.294G>A	c.(292-294)tgG>tgA	p.W98*		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	98						integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						CCCTAGGGTGGAGTTTTGGTA	0.328																																						dbGAP											0													1.0	1.0	1.0					16																	14935257		54	129	183	-	-	-	SO:0001587	stop_gained	0			X57398	CCDS10556.1	16p13.11	2008-02-05			ENSG00000103512	ENSG00000103512			30060	protein-coding gene	gene with protein product		609157				1310294, 15257293	Standard	NM_014287		Approved	PM5	uc002dcv.3	Q15155	OTTHUMG00000090541	ENST00000287667.7:c.294G>A	16.37:g.14935257G>A	ENSP00000287667:p.Trp98*	Somatic		WXS	Illumina GAIIx	Phase_IV	P78421|Q8IW21|Q96DG0	Nonsense_Mutation	SNP	pfam_DUF2012,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,superfamily_Collagen-bd_Cna_B-typ_dom	p.W98*	ENST00000287667.7	37	c.294	CCDS10556.1	16	.	.	.	.	.	.	.	.	.	.	.	18.53	3.644184	0.67244	.	.	ENSG00000103512	ENST00000287667;ENST00000456867	.	.	.	2.5	2.5	0.30297	.	0.157073	0.49305	D	0.000149	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	-1.6787	10.8406	0.46712	0.0:0.0:1.0:0.0	.	.	.	.	X	98	.	ENSP00000287667:W98X	W	+	3	0	NOMO1	14842758	1.000000	0.71417	1.000000	0.80357	0.133000	0.20885	9.040000	0.93783	1.426000	0.47256	0.121000	0.15741	TGG	NOMO1	-	superfamily_Collagen-bd_Cna_B-typ_dom	ENSG00000103512		0.328	NOMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOMO1	HGNC	protein_coding	OTTHUMT00000207065.1	26	0.00	0	G			14935257	14935257	+1	no_errors	ENST00000287667	ensembl	human	known	69_37n	nonsense	23	32.35	11	SNP	1.000	A
NOMO1	23420	genome.wustl.edu	37	16	14951376	14951376	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:14951376G>C	ENST00000287667.7	+	11	1255	c.1084G>C	c.(1084-1086)Gat>Cat	p.D362H	NOMO1_ENST00000566883.1_3'UTR	NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	362						integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						AACAAAAGCTGATGGCTCATT	0.408																																						dbGAP											0													29.0	28.0	29.0					16																	14951376		2193	4279	6472	-	-	-	SO:0001583	missense	0			X57398	CCDS10556.1	16p13.11	2008-02-05			ENSG00000103512	ENSG00000103512			30060	protein-coding gene	gene with protein product		609157				1310294, 15257293	Standard	NM_014287		Approved	PM5	uc002dcv.3	Q15155	OTTHUMG00000090541	ENST00000287667.7:c.1084G>C	16.37:g.14951376G>C	ENSP00000287667:p.Asp362His	Somatic		WXS	Illumina GAIIx	Phase_IV	P78421|Q8IW21|Q96DG0	Missense_Mutation	SNP	pfam_DUF2012,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,superfamily_Collagen-bd_Cna_B-typ_dom	p.D362H	ENST00000287667.7	37	c.1084	CCDS10556.1	16	.	.	.	.	.	.	.	.	.	.	.	19.47	3.834399	0.71373	.	.	ENSG00000103512	ENST00000287667;ENST00000456867;ENST00000536948	T	0.50548	0.74	3.31	3.31	0.37934	Carboxypeptidase-like, regulatory domain (1);Domain of unknown function DUF2012 (1);Carboxypeptidase, regulatory domain (1);	0.142682	0.47852	D	0.000215	T	0.67258	0.2874	M	0.83118	2.625	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	T	0.71629	-0.4535	10	0.49607	T	0.09	-6.1104	12.5207	0.56058	0.0:0.0:1.0:0.0	.	362	Q15155	NOMO1_HUMAN	H	362;362;195	ENSP00000287667:D362H	ENSP00000287667:D362H	D	+	1	0	NOMO1	14858877	1.000000	0.71417	0.946000	0.38457	0.881000	0.50899	9.040000	0.93783	1.832000	0.53329	0.398000	0.26397	GAT	NOMO1	-	pfam_DUF2012,superfamily_CarboxyPept-like_regulatory	ENSG00000103512		0.408	NOMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOMO1	HGNC	protein_coding	OTTHUMT00000207065.1	93	0.00	0	G			14951376	14951376	+1	no_errors	ENST00000287667	ensembl	human	known	69_37n	missense	114	22.45	33	SNP	0.999	C
NOMO1	23420	genome.wustl.edu	37	16	14978319	14978319	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:14978319G>C	ENST00000287667.7	+	27	3373	c.3202G>C	c.(3202-3204)Gaa>Caa	p.E1068Q		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	1068						integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						CACTTCCTCTGAATACCTTCC	0.383																																						dbGAP											0													163.0	153.0	156.0					16																	14978319		2196	4300	6496	-	-	-	SO:0001583	missense	0			X57398	CCDS10556.1	16p13.11	2008-02-05			ENSG00000103512	ENSG00000103512			30060	protein-coding gene	gene with protein product		609157				1310294, 15257293	Standard	NM_014287		Approved	PM5	uc002dcv.3	Q15155	OTTHUMG00000090541	ENST00000287667.7:c.3202G>C	16.37:g.14978319G>C	ENSP00000287667:p.Glu1068Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	P78421|Q8IW21|Q96DG0	Missense_Mutation	SNP	pfam_DUF2012,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,superfamily_Collagen-bd_Cna_B-typ_dom	p.E1068Q	ENST00000287667.7	37	c.3202	CCDS10556.1	16	.	.	.	.	.	.	.	.	.	.	G	14.37	2.514433	0.44763	.	.	ENSG00000103512	ENST00000287667;ENST00000456867;ENST00000536948	T	0.36699	1.24	3.21	3.21	0.36854	.	0.000000	0.85682	D	0.000000	T	0.46190	0.1380	M	0.65498	2.005	0.80722	D	1	D	0.57257	0.979	P	0.52554	0.702	T	0.49881	-0.8892	10	0.49607	T	0.09	-27.6503	11.969	0.53053	0.0:0.0:1.0:0.0	.	1068	Q15155	NOMO1_HUMAN	Q	1068;1068;901	ENSP00000287667:E1068Q	ENSP00000287667:E1068Q	E	+	1	0	NOMO1	14885820	1.000000	0.71417	0.942000	0.38095	0.248000	0.25809	9.002000	0.93572	1.628000	0.50416	0.184000	0.17185	GAA	NOMO1	-	NULL	ENSG00000103512		0.383	NOMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOMO1	HGNC	protein_coding	OTTHUMT00000207065.1	152	0.00	0	G			14978319	14978319	+1	no_errors	ENST00000287667	ensembl	human	known	69_37n	missense	118	27.61	45	SNP	1.000	C
NOMO2	283820	genome.wustl.edu	37	16	18553950	18553950	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:18553950G>A	ENST00000381474.3	-	8	904	c.839C>T	c.(838-840)tCt>tTt	p.S280F	NOMO2_ENST00000543392.1_Missense_Mutation_p.S113F|NOMO2_ENST00000330537.6_Missense_Mutation_p.S280F	NM_001004060.1	NP_001004060.1	Q5JPE7	NOMO2_HUMAN	NODAL modulator 2	280						endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1)	20						GGAATAGAAAGAGAACGAGCC	0.512																																						dbGAP											0													4.0	1.0	2.0					16																	18553950		8	9	17	-	-	-	SO:0001583	missense	0			AL512687	CCDS10570.1, CCDS32394.1	16p12.3	2008-02-05			ENSG00000185164	ENSG00000185164			22652	protein-coding gene	gene with protein product		609158				15257293	Standard	NM_001004060		Approved	NOMO, PM5	uc002dfe.3	Q5JPE7	OTTHUMG00000131366	ENST00000381474.3:c.839C>T	16.37:g.18553950G>A	ENSP00000370883:p.Ser280Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G177	Missense_Mutation	SNP	pfam_DUF2012,superfamily_Carb-bd-like_fold,superfamily_CarboxyPept-like_regulatory,superfamily_Collagen-bd_Cna_B-typ_dom	p.S280F	ENST00000381474.3	37	c.839	CCDS32394.1	16	.	.	.	.	.	.	.	.	.	.	.	14.54	2.565935	0.45694	.	.	ENSG00000185164	ENST00000330537;ENST00000381474;ENST00000543392	T;T;T	0.04454	3.63;3.62;3.63	3.26	3.26	0.37387	.	0.209071	0.39985	N	0.001208	T	0.09379	0.0231	M	0.74881	2.28	0.50171	D	0.999859	P;P	0.49961	0.93;0.855	P;B	0.44732	0.459;0.359	T	0.05733	-1.0867	10	0.56958	D	0.05	-24.5913	10.9198	0.47158	0.0:0.2103:0.7896:0.0	.	113;280	Q4G177;Q5JPE7	.;NOMO2_HUMAN	F	280;280;113	ENSP00000331851:S280F;ENSP00000370883:S280F;ENSP00000439970:S113F	ENSP00000331851:S280F	S	-	2	0	NOMO2	18461451	1.000000	0.71417	0.983000	0.44433	0.694000	0.40290	3.605000	0.54088	1.784000	0.52394	0.455000	0.32223	TCT	NOMO2	-	superfamily_CarboxyPept-like_regulatory	ENSG00000185164		0.512	NOMO2-002	KNOWN	basic|CCDS	protein_coding	NOMO2	HGNC	protein_coding	OTTHUMT00000435858.1	25	0.00	0	G	NM_001004060		18553950	18553950	-1	no_errors	ENST00000381474	ensembl	human	known	69_37n	missense	18	25.00	6	SNP	1.000	A
NOP56	10528	genome.wustl.edu	37	20	2637850	2637850	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:2637850C>G	ENST00000329276.5	+	11	1921	c.1405C>G	c.(1405-1407)Cca>Gca	p.P469A	SNORD86_ENST00000391196.1_RNA|SNORD57_ENST00000448188.1_RNA|NOP56_ENST00000492135.1_3'UTR|SNORA51_ENST00000606420.1_RNA|SNORD110_ENST00000408189.1_RNA|IDH3B_ENST00000488299.1_5'Flank|SNORD56_ENST00000413522.1_RNA	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	469	Lys-rich.				cell death (GO:0008219)|rRNA processing (GO:0006364)	box C/D snoRNP complex (GO:0031428)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snoRNA binding (GO:0030515)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						CAGTAGTACTCCAGAGGAGTG	0.498																																						dbGAP											0													76.0	74.0	74.0					20																	2637850		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y12065	CCDS13030.1	20p13	2012-12-10	2012-12-10	2009-01-13	ENSG00000101361	ENSG00000101361			15911	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 36"""	614154	"""nucleolar protein 5A (56kD with KKE/D repeat)"", ""nucleolar protein 5A (56kDa with KKE/D repeat)"", ""NOP56 ribonucleoprotein homolog (yeast)"""	NOL5A		9372940, 21683323	Standard	NR_027700		Approved	SCA36	uc002wgh.3	O00567	OTTHUMG00000031703	ENST00000329276.5:c.1405C>G	20.37:g.2637850C>G	ENSP00000370589:p.Pro469Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M3T6|Q9NQ05	Missense_Mutation	SNP	pfam_SnoRNA-bd_dom,pfam_NOSIC,pfam_NOP5_N,smart_NOSIC	p.P469A	ENST00000329276.5	37	c.1405	CCDS13030.1	20	.	.	.	.	.	.	.	.	.	.	C	9.316	1.056797	0.19907	.	.	ENSG00000101361	ENST00000329276;ENST00000381169	T	0.38401	1.14	5.71	2.47	0.30058	.	0.665537	0.16426	N	0.214950	T	0.22551	0.0544	N	0.24115	0.695	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.15407	-1.0438	10	0.36615	T	0.2	-3.2514	8.5083	0.33201	0.0:0.6278:0.2893:0.0828	.	216;469	E9PDI8;O00567	.;NOP56_HUMAN	A	469;216	ENSP00000370589:P469A	ENSP00000370589:P469A	P	+	1	0	NOP56	2585850	0.318000	0.24598	0.005000	0.12908	0.968000	0.65278	4.276000	0.58933	0.835000	0.34877	0.650000	0.86243	CCA	NOP56	-	NULL	ENSG00000101361		0.498	NOP56-009	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP56	HGNC	protein_coding	OTTHUMT00000077631.2	48	0.00	0	C	NM_006392		2637850	2637850	+1	no_errors	ENST00000329276	ensembl	human	known	69_37n	missense	61	17.57	13	SNP	0.000	G
NOS1	4842	genome.wustl.edu	37	12	117698390	117698390	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:117698390C>T	ENST00000338101.4	-	13	2251	c.2247G>A	c.(2245-2247)ctG>ctA	p.L749L	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Silent_p.L749L			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		CCTGCCCCATCAGCTTGGCCG	0.517																																					Esophageal Squamous(162;1748 2599 51982 52956)	dbGAP											0													80.0	78.0	79.0					12																	117698390		1956	4169	6125	-	-	-	SO:0001819	synonymous_variant	0				CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.2247G>A	12.37:g.117698390C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_met,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.L749	ENST00000338101.4	37	c.2247	CCDS55890.1	12																																																																																			NOS1	-	pirsf_NOS_met	ENSG00000089250		0.517	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NOS1	HGNC	protein_coding	OTTHUMT00000268053.1	77	0.00	0	C			117698390	117698390	-1	no_errors	ENST00000317775	ensembl	human	known	69_37n	silent	88	18.52	20	SNP	1.000	T
NOS1	4842	genome.wustl.edu	37	12	117768172	117768172	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:117768172C>A	ENST00000338101.4	-	1	707	c.703G>T	c.(703-705)Gat>Tat	p.D235Y	NOS1_ENST00000344089.3_Missense_Mutation_p.D235Y|NOS1_ENST00000549189.1_5'Flank|NOS1_ENST00000317775.6_Missense_Mutation_p.D235Y			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		ATTCCCATATCTTTCATCTCT	0.542																																					Esophageal Squamous(162;1748 2599 51982 52956)	dbGAP											0													104.0	109.0	107.0					12																	117768172		2050	4213	6263	-	-	-	SO:0001583	missense	0				CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.703G>T	12.37:g.117768172C>A	ENSP00000337459:p.Asp235Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_met,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.D235Y	ENST00000338101.4	37	c.703	CCDS55890.1	12	.	.	.	.	.	.	.	.	.	.	C	20.6	4.024733	0.75390	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000344089;ENST00000338101	T;T;T	0.21031	4.59;2.03;4.48	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.42765	0.1217	M	0.65498	2.005	0.80722	D	1	D	0.64830	0.994	P	0.59948	0.866	T	0.43147	-0.9409	10	0.87932	D	0	-37.2065	17.7057	0.88309	0.0:1.0:0.0:0.0	.	235	P29475	NOS1_HUMAN	Y	235	ENSP00000320758:D235Y;ENSP00000339862:D235Y;ENSP00000337459:D235Y	ENSP00000320758:D235Y	D	-	1	0	NOS1	116252555	1.000000	0.71417	0.124000	0.21820	0.750000	0.42670	7.200000	0.77838	2.408000	0.81797	0.484000	0.47621	GAT	NOS1	-	pirsf_NOS_met	ENSG00000089250		0.542	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NOS1	HGNC	protein_coding	OTTHUMT00000268053.1	33	0.00	0	C			117768172	117768172	-1	no_errors	ENST00000317775	ensembl	human	known	69_37n	missense	37	21.28	10	SNP	1.000	A
NOS1	4842	genome.wustl.edu	37	12	117768590	117768590	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:117768590G>A	ENST00000338101.4	-	1	289	c.285C>T	c.(283-285)ctC>ctT	p.L95L	NOS1_ENST00000344089.3_Silent_p.L95L|NOS1_ENST00000549189.1_5'Flank|NOS1_ENST00000317775.6_Silent_p.L95L			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		CCCTCAGAATGAGGACCACGT	0.612																																					Esophageal Squamous(162;1748 2599 51982 52956)	dbGAP											0													40.0	44.0	43.0					12																	117768590		1980	4135	6115	-	-	-	SO:0001819	synonymous_variant	0				CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.285C>T	12.37:g.117768590G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_met,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.L95	ENST00000338101.4	37	c.285	CCDS55890.1	12																																																																																			NOS1	-	superfamily_PDZ,smart_PDZ,pirsf_NOS_met,pfscan_PDZ	ENSG00000089250		0.612	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NOS1	HGNC	protein_coding	OTTHUMT00000268053.1	20	0.00	0	G			117768590	117768590	-1	no_errors	ENST00000317775	ensembl	human	known	69_37n	silent	26	18.75	6	SNP	1.000	A
NOS1AP	9722	genome.wustl.edu	37	1	162302840	162302840	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:162302840G>A	ENST00000361897.5	+	5	780	c.378G>A	c.(376-378)ttG>ttA	p.L126L	NOS1AP_ENST00000530878.1_Silent_p.L121L	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	126	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				regulation of apoptotic process (GO:0042981)|regulation of nitric oxide biosynthetic process (GO:0045428)|regulation of nitric-oxide synthase activity (GO:0050999)		nitric-oxide synthase binding (GO:0050998)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			CCCAAGACTTGAAGATCTTCA	0.428																																						dbGAP											0													123.0	113.0	116.0					1																	162302840		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB007933	CCDS1237.1, CCDS44267.1, CCDS53421.1	1q23.3	2010-08-20			ENSG00000198929	ENSG00000198929			16859	protein-coding gene	gene with protein product	"""C-terminal PDZ domain ligand of neuronal nitric oxide synthase"""	605551				9455484, 9459447	Standard	NM_001126060		Approved	KIAA0464, CAPON	uc001gbv.2	O75052	OTTHUMG00000024049	ENST00000361897.5:c.378G>A	1.37:g.162302840G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLF5|O43564|Q3T551|Q5VU95	Silent	SNP	pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom	p.L126	ENST00000361897.5	37	c.378	CCDS1237.1	1																																																																																			NOS1AP	-	pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom	ENSG00000198929		0.428	NOS1AP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NOS1AP	HGNC	protein_coding	OTTHUMT00000060555.2	114	0.00	0	G	NM_014697		162302840	162302840	+1	no_errors	ENST00000361897	ensembl	human	known	69_37n	silent	106	28.38	42	SNP	1.000	A
NOS2	4843	genome.wustl.edu	37	17	26099366	26099366	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:26099366C>T	ENST00000313735.6	-	14	1905	c.1672G>A	c.(1672-1674)Ggg>Agg	p.G558R		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	558	Flavodoxin-like. {ECO:0000255|PROSITE- ProRule:PRU00088}.				arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	AATAAGGCCCCCAGGTCCCAG	0.532																																						dbGAP											0													89.0	77.0	81.0					17																	26099366		2203	4300	6503	-	-	-	SO:0001583	missense	0			U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"""nitric oxide synthase 2A (inducible, hepatocytes)"""	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.1672G>A	17.37:g.26099366C>T	ENSP00000327251:p.Gly558Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	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.G558R	ENST00000313735.6	37	c.1672	CCDS11223.1	17	.	.	.	.	.	.	.	.	.	.	C	11.46	1.644426	0.29246	.	.	ENSG00000007171	ENST00000313735;ENST00000379105;ENST00000302153	T	0.73363	-0.74	5.97	3.98	0.46160	Flavodoxin/nitric oxide synthase (2);	0.374376	0.25863	N	0.027812	T	0.58864	0.2152	L	0.33753	1.03	0.26003	N	0.982099	B;B	0.16603	0.018;0.013	B;B	0.24848	0.046;0.056	T	0.44544	-0.9321	10	0.32370	T	0.25	.	3.5217	0.07744	0.1423:0.5848:0.1237:0.1492	.	558;558	F8WEM3;P35228	.;NOS2_HUMAN	R	558;519;558	ENSP00000327251:G558R	ENSP00000305638:G558R	G	-	1	0	NOS2	23123493	0.007000	0.16637	0.652000	0.29579	0.994000	0.84299	1.115000	0.31209	1.540000	0.49301	0.655000	0.94253	GGG	NOS2	-	pfam_Flavodoxin/NO_synth,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth	ENSG00000007171		0.532	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOS2	HGNC	protein_coding	OTTHUMT00000255597.1	56	0.00	0	C	NM_000625		26099366	26099366	-1	no_errors	ENST00000313735	ensembl	human	known	69_37n	missense	62	24.39	20	SNP	0.778	T
NOS2	4843	genome.wustl.edu	37	17	26101430	26101430	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:26101430G>A	ENST00000313735.6	-	12	1562	c.1329C>T	c.(1327-1329)ttC>ttT	p.F443F		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	443					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	TGTACTTCATGAAGGATTCTG	0.552																																						dbGAP											0													100.0	95.0	97.0					17																	26101430		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"""nitric oxide synthase 2A (inducible, hepatocytes)"""	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.1329C>T	17.37:g.26101430G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Silent	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.F443	ENST00000313735.6	37	c.1329	CCDS11223.1	17																																																																																			NOS2	-	pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_met	ENSG00000007171		0.552	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOS2	HGNC	protein_coding	OTTHUMT00000255597.1	85	0.00	0	G	NM_000625		26101430	26101430	-1	no_errors	ENST00000313735	ensembl	human	known	69_37n	silent	88	21.43	24	SNP	1.000	A
NOS2	4843	genome.wustl.edu	37	17	26116657	26116657	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:26116657G>A	ENST00000313735.6	-	3	401	c.168C>T	c.(166-168)tcC>tcT	p.S56S		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	56					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	GGGGCTGCGGGGACTCATTCT	0.552																																						dbGAP											0													195.0	161.0	172.0					17																	26116657		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"""nitric oxide synthase 2A (inducible, hepatocytes)"""	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.168C>T	17.37:g.26116657G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Silent	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.S56	ENST00000313735.6	37	c.168	CCDS11223.1	17																																																																																			NOS2	-	pirsf_NOS_met	ENSG00000007171		0.552	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOS2	HGNC	protein_coding	OTTHUMT00000255597.1	90	0.00	0	G	NM_000625		26116657	26116657	-1	no_errors	ENST00000313735	ensembl	human	known	69_37n	silent	122	27.81	47	SNP	0.000	A
NOSTRIN	115677	genome.wustl.edu	37	2	169718518	169718518	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:169718518C>G	ENST00000317647.7	+	15	1572	c.1343C>G	c.(1342-1344)tCt>tGt	p.S448C	NOSTRIN_ENST00000444448.2_Missense_Mutation_p.S505C|NOSTRIN_ENST00000458381.2_Missense_Mutation_p.S505C|NOSTRIN_ENST00000421711.2_Missense_Mutation_p.S420C|NOSTRIN_ENST00000397206.2_Missense_Mutation_p.S370C|NOSTRIN_ENST00000397209.2_Missense_Mutation_p.S420C|NOSTRIN_ENST00000445023.2_Missense_Mutation_p.S370C	NM_001039724.3	NP_001034813.2	Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficking	448	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				endocytosis (GO:0006897)|negative regulation of transcription, DNA-templated (GO:0045892)|nitric oxide metabolic process (GO:0046209)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoskeleton (GO:0005856)|endocytic vesicle membrane (GO:0030666)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						GCCTTGTATTCTTTTCAAGCC	0.393																																						dbGAP											0													107.0	102.0	104.0					2																	169718518		1863	4110	5973	-	-	-	SO:0001583	missense	0			AJ532842	CCDS42771.1, CCDS42772.1, CCDS54415.1, CCDS54416.1	2q31.1	2013-08-05	2013-08-05		ENSG00000163072	ENSG00000163072			20203	protein-coding gene	gene with protein product		607496	"""nitric oxide synthase trafficker"""			12446846	Standard	NM_001171631		Approved	MGC20702	uc002ueg.3	Q8IVI9	OTTHUMG00000153990	ENST00000317647.7:c.1343C>G	2.37:g.169718518C>G	ENSP00000318921:p.Ser448Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2I9|B3KSF5|E7EPT9|Q27HG3|Q53S62|Q96CJ9	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_FCH,superfamily_SH3_domain,superfamily_HR1_rho-bd,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,prints_SH3_domain	p.S505C	ENST00000317647.7	37	c.1514	CCDS42771.1	2	.	.	.	.	.	.	.	.	.	.	C	20.3	3.966183	0.74131	.	.	ENSG00000163072	ENST00000458381;ENST00000444448;ENST00000317647;ENST00000445023;ENST00000397206;ENST00000397209;ENST00000421711	T;T;T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77;0.77;0.77	5.77	5.77	0.91146	Src homology-3 domain (5);	0.753644	0.13197	N	0.406272	T	0.69006	0.3063	M	0.77406	2.37	0.80722	D	1	P;D;D;D;D;D	0.71674	0.944;0.99;0.995;0.998;0.996;0.996	P;P;D;P;P;P	0.63113	0.517;0.789;0.911;0.903;0.907;0.905	T	0.69026	-0.5254	10	0.87932	D	0	-13.2242	15.8531	0.78952	0.0:1.0:0.0:0.0	.	420;370;505;342;448;505	Q8IVI9-2;Q8IVI9-3;B3KSF5;D3DPB9;Q8IVI9;E7EPT9	.;.;.;.;NOSTN_HUMAN;.	C	505;505;448;370;370;420;420	ENSP00000402140:S505C;ENSP00000394051:S505C;ENSP00000318921:S448C;ENSP00000404413:S370C;ENSP00000380390:S370C;ENSP00000380392:S420C;ENSP00000401316:S420C	ENSP00000318921:S448C	S	+	2	0	NOSTRIN	169426764	0.544000	0.26441	0.935000	0.37517	0.951000	0.60555	2.298000	0.43602	2.885000	0.99019	0.655000	0.94253	TCT	NOSTRIN	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain	ENSG00000163072		0.393	NOSTRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOSTRIN	HGNC	protein_coding	OTTHUMT00000333356.4	134	0.00	0	C	NM_052946		169718518	169718518	+1	no_errors	ENST00000444448	ensembl	human	known	69_37n	missense	103	21.97	29	SNP	0.645	G
NOTCH1	4851	genome.wustl.edu	37	9	139401292	139401292	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:139401292G>A	ENST00000277541.6	-	23	3852	c.3777C>T	c.(3775-3777)ttC>ttT	p.F1259F		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1259	EGF-like 32; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCTCACCCACGAAGCCCGGCG	0.657			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												dbGAP		Dom	yes		9	9q34.3	4851	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""		L	0													25.0	33.0	30.0					9																	139401292		2093	4215	6308	-	-	-	SO:0001819	synonymous_variant	0			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.3777C>T	9.37:g.139401292G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q59ED8|Q5SXM3	Silent	SNP	pirsf_Notch,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_1,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.F1259	ENST00000277541.6	37	c.3777	CCDS43905.1	9																																																																																			NOTCH1	-	pirsf_Notch,pfam_EGF-like_dom,pfam_EGF_extracell,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom	ENSG00000148400		0.657	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	HGNC	protein_coding	OTTHUMT00000055087.1	16	0.00	0	G	NM_017617		139401292	139401292	-1	no_errors	ENST00000277541	ensembl	human	known	69_37n	silent	21	25.00	7	SNP	0.996	A
NOTCH2	4853	genome.wustl.edu	37	1	120458354	120458354	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:120458354C>A	ENST00000256646.2	-	34	7210	c.6991G>T	c.(6991-6993)Gct>Tct	p.A2331S		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	2331					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCCGCAACAGCTGGAGGGCAG	0.632			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													dbGAP		Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	0													54.0	65.0	61.0					1																	120458354		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.6991G>T	1.37:g.120458354C>A	ENSP00000256646:p.Ala2331Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	pirsf_Notch,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.A2331S	ENST00000256646.2	37	c.6991	CCDS908.1	1	.	.	.	.	.	.	.	.	.	.	C	5.260	0.233388	0.09969	.	.	ENSG00000134250	ENST00000256646	D	0.81739	-1.53	5.5	3.62	0.41486	.	0.217740	0.22874	U	0.054591	T	0.37489	0.1005	N	0.22421	0.69	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.28459	-1.0043	10	0.07325	T	0.83	.	4.918	0.13856	0.0:0.5814:0.1725:0.2462	.	2331	Q04721	NOTC2_HUMAN	S	2331	ENSP00000256646:A2331S	ENSP00000256646:A2331S	A	-	1	0	NOTCH2	120259877	0.007000	0.16637	0.825000	0.32803	0.949000	0.60115	0.460000	0.21924	0.681000	0.31386	0.561000	0.74099	GCT	NOTCH2	-	pirsf_Notch	ENSG00000134250		0.632	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH2	HGNC	protein_coding	OTTHUMT00000033679.1	22	0.00	0	C	NM_024408		120458354	120458354	-1	no_errors	ENST00000256646	ensembl	human	known	69_37n	missense	30	34.78	16	SNP	0.013	A
NOX5	79400	genome.wustl.edu	37	15	69331260	69331260	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:69331260C>G	ENST00000388866.3	+	9	1476	c.1435C>G	c.(1435-1437)Ctg>Gtg	p.L479V	NOX5_ENST00000448182.3_Missense_Mutation_p.L433V|RP11-809H16.4_ENST00000559495.1_RNA|NOX5_ENST00000455873.3_Missense_Mutation_p.L444V|NOX5_ENST00000260364.5_Missense_Mutation_p.L461V|NOX5_ENST00000530406.2_Missense_Mutation_p.L451V	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	479	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						CTACTTGTATCTGAACATCCC	0.522																																						dbGAP											0													231.0	217.0	222.0					15																	69331260		2200	4298	6498	-	-	-	SO:0001583	missense	0			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.1435C>G	15.37:g.69331260C>G	ENSP00000373518:p.Leu479Val	Somatic		WXS	Illumina GAIIx	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.L479V	ENST00000388866.3	37	c.1435	CCDS32276.2	15	.	.	.	.	.	.	.	.	.	.	C	0.069	-1.206206	0.01568	.	.	ENSG00000255346	ENST00000455873;ENST00000448182;ENST00000388866;ENST00000530406	D;D;D	0.91521	-2.86;-2.86;-2.86	3.43	-0.311	0.12761	Riboflavin synthase-like beta-barrel (1);FAD-binding 8 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.187582	0.38111	N	0.001814	T	0.78426	0.4281	L	0.35341	1.055	0.39195	D	0.963035	B;B;B	0.33841	0.173;0.428;0.173	B;B;B	0.33121	0.061;0.158;0.061	T	0.67604	-0.5628	10	0.08179	T	0.78	-8.9407	4.0749	0.09899	0.0:0.4477:0.188:0.3643	.	444;479;451	Q96PH1-6;Q96PH1;Q96PH1-3	.;NOX5_HUMAN;.	V	444;461;479;451	ENSP00000416828:L444V;ENSP00000373518:L479V;ENSP00000432440:L451V	ENSP00000373518:L479V	L	+	1	2	NOX5	67118314	0.976000	0.34144	0.976000	0.42696	0.218000	0.24690	1.136000	0.31467	0.439000	0.26476	0.313000	0.20887	CTG	NOX5	-	pfam_FAD-bd_8,superfamily_Riboflavin_synthase-like_b-brl	ENSG00000255346		0.522	NOX5-003	KNOWN	basic|CCDS	protein_coding	NOX5	HGNC	protein_coding	OTTHUMT00000257124.2	107	0.00	0	C	NM_024505		69331260	69331260	+1	no_errors	ENST00000388866	ensembl	human	known	69_37n	missense	91	20.18	23	SNP	0.934	G
NPHP3	27031	genome.wustl.edu	37	3	132432100	132432100	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:132432100C>T	ENST00000337331.5	-	6	1074	c.988G>A	c.(988-990)Gag>Aag	p.E330K	NPHP3_ENST00000326682.8_Missense_Mutation_p.E330K|NPHP3_ENST00000476742.1_5'UTR	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	330					atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCCATTGTCTCGCACATTCTC	0.289																																						dbGAP											0													45.0	46.0	45.0					3																	132432100		2198	4272	6470	-	-	-	SO:0001583	missense	0			AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"""Tetratricopeptide (TTC) repeat domain containing"""	7907	protein-coding gene	gene with protein product	"""nephrocystin-3"", ""Meckel syndrome, type 7"", ""cilia and flagella associated protein 31"""	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.988G>A	3.37:g.132432100C>T	ENSP00000338766:p.Glu330Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR-3,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E330K	ENST00000337331.5	37	c.988	CCDS3078.1	3	.	.	.	.	.	.	.	.	.	.	C	29.7	5.027440	0.93518	.	.	ENSG00000113971	ENST00000326682;ENST00000337331	D;D	0.92595	-3.07;-2.94	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	D	0.95551	0.8554	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.70487	0.969	D	0.93695	0.7010	10	0.34782	T	0.22	-31.812	20.5269	0.99230	0.0:1.0:0.0:0.0	.	330	Q7Z494	NPHP3_HUMAN	K	330	ENSP00000319909:E330K;ENSP00000338766:E330K	ENSP00000319909:E330K	E	-	1	0	NPHP3	133914790	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.156000	0.64905	2.859000	0.98148	0.591000	0.81541	GAG	NPHP3	-	NULL	ENSG00000113971		0.289	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NPHP3	HGNC	protein_coding	OTTHUMT00000357020.2	59	0.00	0	C	NM_153240		132432100	132432100	-1	no_errors	ENST00000337331	ensembl	human	known	69_37n	missense	67	10.67	8	SNP	1.000	T
NPHP3	27031	genome.wustl.edu	37	3	132435634	132435634	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:132435634C>G	ENST00000337331.5	-	4	876	c.790G>C	c.(790-792)Gat>Cat	p.D264H	NPHP3_ENST00000326682.8_Missense_Mutation_p.D264H|NPHP3_ENST00000476742.1_5'UTR	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	264					atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCTTCCACATCTATAGAACTA	0.438																																						dbGAP											0													96.0	91.0	93.0					3																	132435634		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"""Tetratricopeptide (TTC) repeat domain containing"""	7907	protein-coding gene	gene with protein product	"""nephrocystin-3"", ""Meckel syndrome, type 7"", ""cilia and flagella associated protein 31"""	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.790G>C	3.37:g.132435634C>G	ENSP00000338766:p.Asp264His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR-3,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.D264H	ENST00000337331.5	37	c.790	CCDS3078.1	3	.	.	.	.	.	.	.	.	.	.	C	26.4	4.731365	0.89390	.	.	ENSG00000113971	ENST00000326682;ENST00000337331	D;D	0.94576	-3.46;-3.41	5.99	5.99	0.97316	.	0.044988	0.85682	D	0.000000	D	0.96602	0.8891	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.65684	0.937	D	0.96611	0.9452	10	0.87932	D	0	-26.7034	18.7205	0.91691	0.0:1.0:0.0:0.0	.	264	Q7Z494	NPHP3_HUMAN	H	264	ENSP00000319909:D264H;ENSP00000338766:D264H	ENSP00000319909:D264H	D	-	1	0	NPHP3	133918324	1.000000	0.71417	0.959000	0.39883	0.993000	0.82548	7.818000	0.86416	2.864000	0.98301	0.549000	0.68633	GAT	NPHP3	-	NULL	ENSG00000113971		0.438	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NPHP3	HGNC	protein_coding	OTTHUMT00000357020.2	67	0.00	0	C	NM_153240		132435634	132435634	-1	no_errors	ENST00000337331	ensembl	human	known	69_37n	missense	61	12.86	9	SNP	1.000	G
NPHP4	261734	genome.wustl.edu	37	1	6029191	6029191	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:6029191G>A	ENST00000378156.4	-	4	673	c.408C>T	c.(406-408)ttC>ttT	p.F136F	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	136					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		GCTGGTTGCTGAAGATCCGAA	0.512																																						dbGAP											0													48.0	56.0	53.0					1																	6029191		1917	4050	5967	-	-	-	SO:0001819	synonymous_variant	0			AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"""nephroretinin"", ""nephrocystin-4"", ""POC10 centriolar protein homolog (Chlamydomonas)"""	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.408C>T	1.37:g.6029191G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IWC0	Silent	SNP	NULL	p.F136	ENST00000378156.4	37	c.408	CCDS44052.1	1																																																																																			NPHP4	-	NULL	ENSG00000131697		0.512	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	NPHP4	HGNC	protein_coding	OTTHUMT00000001715.2	71	0.00	0	G			6029191	6029191	-1	no_errors	ENST00000378156	ensembl	human	known	69_37n	silent	62	19.48	15	SNP	0.910	A
NPHP4	261734	genome.wustl.edu	37	1	6046245	6046245	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:6046245G>C	ENST00000378156.4	-	2	370	c.105C>G	c.(103-105)ctC>ctG	p.L35L	NPHP4_ENST00000478423.2_Intron	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	35					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGCCACTTGAGGACACACT	0.522																																						dbGAP											0													84.0	91.0	89.0					1																	6046245		2070	4190	6260	-	-	-	SO:0001819	synonymous_variant	0			AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"""nephroretinin"", ""nephrocystin-4"", ""POC10 centriolar protein homolog (Chlamydomonas)"""	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.105C>G	1.37:g.6046245G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IWC0	Silent	SNP	NULL	p.L35	ENST00000378156.4	37	c.105	CCDS44052.1	1																																																																																			NPHP4	-	NULL	ENSG00000131697		0.522	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	NPHP4	HGNC	protein_coding	OTTHUMT00000001715.2	107	0.00	0	G			6046245	6046245	-1	no_errors	ENST00000378156	ensembl	human	known	69_37n	silent	80	28.57	32	SNP	1.000	C
NPNT	255743	genome.wustl.edu	37	4	106879666	106879666	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:106879666G>C	ENST00000379987.2	+	9	1414	c.1198G>C	c.(1198-1200)Gaa>Caa	p.E400Q	NPNT_ENST00000453617.2_Missense_Mutation_p.E417Q|NPNT_ENST00000305572.8_Intron|NPNT_ENST00000427316.2_Missense_Mutation_p.E430Q|NPNT_ENST00000514622.1_Intron|NPNT_ENST00000506666.1_Intron	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	400					branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to tumor necrosis factor (GO:0071356)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|pilomotor reflex (GO:0097195)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|ureteric bud development (GO:0001657)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integrin alpha8-beta1 complex (GO:0034678)|proteinaceous extracellular matrix (GO:0005578)|smooth muscle contractile fiber (GO:0030485)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		TGAAATATTTGAAATAGAAAG	0.388																																						dbGAP											0													107.0	101.0	103.0					4																	106879666		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34046.1, CCDS54784.1, CCDS54785.1, CCDS54786.1, CCDS54787.1	4q25	2005-10-07							27405	protein-coding gene	gene with protein product		610306				15754038	Standard	NM_001033047		Approved	EGFL6L, POEM	uc011cfd.2	Q6UXI9		ENST00000379987.2:c.1198G>C	4.37:g.106879666G>C	ENSP00000369323:p.Glu400Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFT9|A8K1W4|B4DIT4|B4DYK3|B4E2H7|B4E3H2|D6RCA1|E9PCK8|E9PCQ1|E9PE64|E9PF04	Missense_Mutation	SNP	pfam_MAM_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_TIL_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_MAM_dom,pfscan_EG-like_dom,pfscan_MAM_dom	p.E400Q	ENST00000379987.2	37	c.1198	CCDS34046.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	19.61|19.61	3.859965|3.859965	0.71834|0.71834	.|.	.|.	ENSG00000168743|ENSG00000168743	ENST00000379987;ENST00000453617;ENST00000427316;ENST00000503451|ENST00000514837	T;T;T;T|.	0.79141|.	-0.88;-1.24;-0.97;-0.13|.	5.27|5.27	5.27|5.27	0.74061|0.74061	.|.	0.145914|.	0.64402|.	D|.	0.000009|.	T|.	0.59770|.	0.2218|.	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;0.999;1.0;0.999|.	D;D;D;D|.	0.66084|.	0.922;0.922;0.941;0.922|.	T|.	0.54682|.	-0.8257|.	10|.	0.28530|.	T|.	0.3|.	.|.	18.9058|18.9058	0.92460|0.92460	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	430;417;447;400|.	E9PCQ1;E9PCK8;D6RH31;Q6UXI9|.	.;.;.;NPNT_HUMAN|.	Q|S	400;417;430;447|376	ENSP00000369323:E400Q;ENSP00000402884:E417Q;ENSP00000389252:E430Q;ENSP00000426146:E447Q|.	ENSP00000369323:E400Q|.	E|X	+|+	1|2	0|2	NPNT|NPNT	107099115|107099115	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	7.715000|7.715000	0.84713|0.84713	2.462000|2.462000	0.83206|0.83206	0.651000|0.651000	0.88453|0.88453	GAA|TGA	NPNT	-	NULL	ENSG00000168743		0.388	NPNT-001	KNOWN	basic|CCDS	protein_coding	NPNT	HGNC	protein_coding	OTTHUMT00000364083.1	96	0.00	0	G	NM_198278		106879666	106879666	+1	no_errors	ENST00000379987	ensembl	human	known	69_37n	missense	74	18.68	17	SNP	1.000	C
NPR1	4881	genome.wustl.edu	37	1	153665734	153665734	+	Intron	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:153665734C>G	ENST00000368680.3	+	21	3595					NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1						body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	TTACCCTTCTCAAGCAGCCAA	0.562																																					Pancreas(141;1349 1870 15144 15830 40702)	dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"""guanylate cyclase A"""	108960	"""atrionatriuretic peptide receptor A"", ""natriuretic peptide receptor A"""	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.3123+61C>G	1.37:g.153665734C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B0ZBF0|Q5SR08|Q6P4Q3	Missense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.Q243E	ENST00000368680.3	37	c.727	CCDS1051.1	1	.	.	.	.	.	.	.	.	.	.	C	2.389	-0.340355	0.05243	.	.	ENSG00000169418	ENST00000368677	.	.	.	3.89	0.977	0.19733	.	.	.	.	.	T	0.10465	0.0256	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.31586	-0.9938	4	.	.	.	.	5.1613	0.15062	0.0:0.6171:0.0:0.3829	.	.	.	.	E	243	.	.	Q	+	1	0	NPR1	151932358	0.000000	0.05858	0.002000	0.10522	0.855000	0.48748	-0.401000	0.07232	0.432000	0.26286	0.561000	0.74099	CAA	NPR1	-	NULL	ENSG00000169418		0.562	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPR1	HGNC	protein_coding	OTTHUMT00000090034.1	47	0.00	0	C	NM_000906		153665734	153665734	+1	no_errors	ENST00000368677	ensembl	human	known	69_37n	missense	30	16.67	6	SNP	0.002	G
NPY1R	4886	genome.wustl.edu	37	4	164247622	164247622	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:164247622C>T	ENST00000296533.2	-	2	616	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	29					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose metabolic process (GO:0006006)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|regulation of blood pressure (GO:0008217)|regulation of multicellular organism growth (GO:0040014)|sensory perception of pain (GO:0019233)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TCATCATTTTCAAAAGCCAGA	0.398																																						dbGAP											0													99.0	95.0	96.0					4																	164247622		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34089.1	4q31.3-q32	2012-08-08				ENSG00000164128		"""GPCR / Class A : Neuropeptide receptors : Y"""	7956	protein-coding gene	gene with protein product		162641		NPYR		8095935	Standard	NM_000909		Approved		uc003iqm.2	P25929		ENST00000296533.2:c.85G>A	4.37:g.164247622C>T	ENSP00000354652:p.Glu29Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6H5	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_Glucose_rcpt_Git3_N,pfscan_GPCR_Rhodpsn_supfam,prints_NPY1_rcpt,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt	p.E29K	ENST00000296533.2	37	c.85	CCDS34089.1	4	.	.	.	.	.	.	.	.	.	.	C	12.52	1.963263	0.34659	.	.	ENSG00000164128	ENST00000296533;ENST00000504790;ENST00000515701	T	0.37411	1.2	5.55	5.55	0.83447	.	0.598323	0.16440	N	0.214360	T	0.26774	0.0655	N	0.19112	0.55	0.80722	D	1	B	0.22080	0.064	B	0.18871	0.023	T	0.04635	-1.0937	10	0.28530	T	0.3	.	15.8333	0.78778	0.0:0.8642:0.1358:0.0	.	29	P25929	NPY1R_HUMAN	K	29	ENSP00000354652:E29K	ENSP00000354652:E29K	E	-	1	0	NPY1R	164467072	1.000000	0.71417	1.000000	0.80357	0.417000	0.31264	2.790000	0.47821	2.617000	0.88574	0.650000	0.86243	GAA	NPY1R	-	NULL	ENSG00000164128		0.398	NPY1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPY1R	HGNC	protein_coding	OTTHUMT00000364685.1	98	0.00	0	C			164247622	164247622	-1	no_errors	ENST00000296533	ensembl	human	known	69_37n	missense	65	22.62	19	SNP	1.000	T
NR4A3	8013	genome.wustl.edu	37	9	102590586	102590586	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:102590586G>T	ENST00000395097.2	+	3	991	c.262G>T	c.(262-264)Gag>Tag	p.E88*	NR4A3_ENST00000330847.1_Nonsense_Mutation_p.E99*|NR4A3_ENST00000338488.4_Nonsense_Mutation_p.E88*	NM_006981.3|NM_173200.2	NP_008912.2|NP_775292.1	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	88					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)	p.E88*(1)|p.E99*(1)	TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				CAAAGTGGAGGAGGGGCGGGC	0.602			T	EWSR1	extraskeletal myxoid chondrosarcoma																																	dbGAP		Dom	yes		9	9q22	8013	"""nuclear receptor subfamily 4, group A, member 3 (NOR1)"""		M	2	Substitution - Nonsense(2)	kidney(2)											56.0	51.0	53.0					9																	102590586		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U12767	CCDS6742.1, CCDS6743.1, CCDS6744.1	9q22	2013-01-16			ENSG00000119508	ENSG00000119508		"""Nuclear hormone receptors"""	7982	protein-coding gene	gene with protein product		600542				8614405	Standard	NM_006981		Approved	CSMF, CHN, NOR1, MINOR	uc004baf.1	Q92570	OTTHUMG00000021030	ENST00000395097.2:c.262G>T	9.37:g.102590586G>T	ENSP00000378531:p.Glu88*	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A3I7|Q12935|Q14979|Q16420|Q4VXA8|Q4VXA9|Q9UEK2|Q9UEK3	Nonsense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_NOR1_rcpt,prints_Nuc_orph_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt	p.E99*	ENST00000395097.2	37	c.295	CCDS6743.1	9	.	.	.	.	.	.	.	.	.	.	G	36	5.627173	0.96671	.	.	ENSG00000119508	ENST00000395097;ENST00000338488;ENST00000330847	.	.	.	5.36	5.36	0.76844	.	2.511850	0.01142	N	0.006233	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	19.4622	0.94921	0.0:0.0:1.0:0.0	.	.	.	.	X	88;88;99	.	ENSP00000333122:E99X	E	+	1	0	NR4A3	101630407	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.900000	0.87376	2.662000	0.90505	0.557000	0.71058	GAG	NR4A3	-	prints_NOR1_rcpt	ENSG00000119508		0.602	NR4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR4A3	HGNC	protein_coding	OTTHUMT00000055482.1	22	0.00	0	G			102590586	102590586	+1	no_errors	ENST00000330847	ensembl	human	known	69_37n	nonsense	29	23.68	9	SNP	1.000	T
NRCAM	4897	genome.wustl.edu	37	7	107866111	107866111	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:107866111C>G	ENST00000425651.2	-	7	755	c.756G>C	c.(754-756)ttG>ttC	p.L252F	NRCAM_ENST00000379024.4_Intron|NRCAM_ENST00000379022.4_Missense_Mutation_p.L252F|NRCAM_ENST00000379028.3_Missense_Mutation_p.L252F|NRCAM_ENST00000413765.2_Intron|NRCAM_ENST00000351718.4_Missense_Mutation_p.L246F	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	252					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CAGTGTCACTCAAATTAGCAG	0.368																																						dbGAP											0													203.0	200.0	201.0					7																	107866111		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.756G>C	7.37:g.107866111C>G	ENSP00000401244:p.Leu252Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.L252F	ENST00000425651.2	37	c.756	CCDS47686.1	7	.	.	.	.	.	.	.	.	.	.	C	13.50	2.257187	0.39896	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000537765;ENST00000351718;ENST00000425651;ENST00000379022;ENST00000445979;ENST00000417701	T;T;T;T;T	0.69040	0.26;0.24;0.26;0.28;-0.37	5.86	5.86	0.93980	.	0.154834	0.47093	D	0.000260	T	0.43986	0.1272	N	0.08118	0	0.36322	D	0.858311	B;P;B	0.39071	0.033;0.658;0.157	B;B;B	0.37601	0.059;0.254;0.129	T	0.51490	-0.8699	10	0.10111	T	0.7	.	13.7319	0.62792	0.0:0.9298:0.0:0.0702	.	252;246;252	Q92823-5;Q92823-4;Q92823	.;.;NRCAM_HUMAN	F	252;252;252;246;252;252;246;246	ENSP00000368314:L252F;ENSP00000325269:L246F;ENSP00000401244:L252F;ENSP00000368308:L252F;ENSP00000390421:L246F	ENSP00000325269:L246F	L	-	3	2	NRCAM	107653347	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.874000	0.56101	2.937000	0.99478	0.650000	0.86243	TTG	NRCAM	-	NULL	ENSG00000091129		0.368	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NRCAM	HGNC	protein_coding	OTTHUMT00000337942.2	73	0.00	0	C	NM_001037132		107866111	107866111	-1	no_errors	ENST00000379028	ensembl	human	known	69_37n	missense	65	31.58	30	SNP	1.000	G
NRCAM	4897	genome.wustl.edu	37	7	107880462	107880462	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:107880462C>G	ENST00000425651.2	-	1	46	c.47G>C	c.(46-48)aGa>aCa	p.R16T	NRCAM_ENST00000379024.4_Missense_Mutation_p.R16T|NRCAM_ENST00000379022.4_Missense_Mutation_p.R16T|NRCAM_ENST00000351718.4_Missense_Mutation_p.R16T|NRCAM_ENST00000379028.3_Missense_Mutation_p.R16T|NRCAM_ENST00000413765.2_Missense_Mutation_p.R16T	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	16					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)	p.R16K(2)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CAGGGGCACTCTGCCCGCAGA	0.433																																						dbGAP											2	Substitution - Missense(2)	lung(2)											126.0	125.0	125.0					7																	107880462		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.47G>C	7.37:g.107880462C>G	ENSP00000401244:p.Arg16Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.R16T	ENST00000425651.2	37	c.47	CCDS47686.1	7	.	.	.	.	.	.	.	.	.	.	C	14.71	2.616260	0.46631	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022;ENST00000445979;ENST00000417701;ENST00000442580;ENST00000419936;ENST00000456431;ENST00000418239	T;T;T;T;T;T;T;T;T;T	0.76316	0.37;0.59;0.31;0.39;0.37;0.37;-0.32;-0.88;-1.01;-1.01	6.17	4.34	0.51931	.	0.434175	0.28499	N	0.015134	T	0.66577	0.2803	L	0.34521	1.04	0.20926	N	0.999827	B;B;B;B;B	0.21905	0.062;0.016;0.018;0.018;0.037	B;B;B;B;B	0.31495	0.085;0.053;0.131;0.053;0.039	T	0.51301	-0.8723	10	0.13108	T	0.6	.	10.0282	0.42085	0.0:0.7608:0.1192:0.12	.	16;16;16;16;16	Q92823-5;Q92823-3;E9PDA4;Q92823-4;Q92823	.;.;.;.;NRCAM_HUMAN	T	16	ENSP00000368314:R16T;ENSP00000407858:R16T;ENSP00000325269:R16T;ENSP00000368310:R16T;ENSP00000401244:R16T;ENSP00000368308:R16T;ENSP00000390421:R16T;ENSP00000390868:R16T;ENSP00000397544:R16T;ENSP00000408203:R16T	ENSP00000325269:R16T	R	-	2	0	NRCAM	107667698	1.000000	0.71417	0.993000	0.49108	0.993000	0.82548	2.974000	0.49272	1.596000	0.50062	0.655000	0.94253	AGA	NRCAM	-	NULL	ENSG00000091129		0.433	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NRCAM	HGNC	protein_coding	OTTHUMT00000337942.2	97	0.00	0	C	NM_001037132		107880462	107880462	-1	no_errors	ENST00000379028	ensembl	human	known	69_37n	missense	74	16.85	15	SNP	0.818	G
NRD1	4898	genome.wustl.edu	37	1	52299702	52299702	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:52299702C>T	ENST00000354831.7	-	6	1246	c.1057G>A	c.(1057-1059)Gaa>Aaa	p.E353K	NRD1_ENST00000539524.1_Missense_Mutation_p.E221K|NRD1_ENST00000544028.1_Missense_Mutation_p.E153K|NRD1_ENST00000352171.7_Missense_Mutation_p.E285K|MIR761_ENST00000390787.1_RNA|NRD1_ENST00000485608.1_5'UTR	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	284					cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						TCAAGAGCTTCCTTGAAGTAC	0.368																																						dbGAP											0													113.0	106.0	108.0					1																	52299702		2203	4300	6503	-	-	-	SO:0001583	missense	0			X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.1057G>A	1.37:g.52299702C>T	ENSP00000346890:p.Glu353Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Missense_Mutation	SNP	pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd	p.E353K	ENST00000354831.7	37	c.1057	CCDS559.1	1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.723999	0.68959	.	.	ENSG00000078618	ENST00000352171;ENST00000354831;ENST00000539524;ENST00000546169;ENST00000544028	T;T;T;T	0.15834	2.39;2.39;2.39;2.39	5.6	5.6	0.85130	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);Peptidase M16, N-terminal (1);	0.085752	0.85682	D	0.000000	T	0.24851	0.0603	L	0.45228	1.405	0.58432	D	0.999995	P;D;D	0.55605	0.928;0.972;0.972	P;P;P	0.54100	0.625;0.742;0.742	T	0.00888	-1.1526	10	0.15499	T	0.54	-16.0837	15.4661	0.75403	0.0:0.8618:0.1382:0.0	.	285;284;353	F5H6R2;O43847;B1AKJ5	.;NRDC_HUMAN;.	K	285;353;221;285;153	ENSP00000262679:E285K;ENSP00000346890:E353K;ENSP00000444416:E221K;ENSP00000442262:E153K	ENSP00000262679:E285K	E	-	1	0	NRD1	52072290	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.590000	0.67530	2.799000	0.96334	0.650000	0.86243	GAA	NRD1	-	pfam_Pept_M16_N,superfamily_Metalloenz_metal-bd	ENSG00000078618		0.368	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRD1	HGNC	protein_coding	OTTHUMT00000023045.1	49	0.00	0	C	NM_002525		52299702	52299702	-1	no_errors	ENST00000354831	ensembl	human	known	69_37n	missense	43	23.21	13	SNP	1.000	T
NRG2	9542	genome.wustl.edu	37	5	139267080	139267080	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:139267080C>T	ENST00000361474.1	-	2	941	c.717G>A	c.(715-717)ttG>ttA	p.L239L	NRG2_ENST00000289409.4_Silent_p.L239L|NRG2_ENST00000394770.1_Silent_p.L239L|NRG2_ENST00000358522.3_Silent_p.L239L|NRG2_ENST00000541337.1_Silent_p.L239L|NRG2_ENST00000518130.1_5'UTR|NRG2_ENST00000289422.7_Silent_p.L239L|NRG2_ENST00000340391.3_Silent_p.L36L|NRG2_ENST00000545385.1_Silent_p.L239L	NM_004883.2	NP_004874.1	O14511	NRG2_HUMAN	neuregulin 2	239	Ig-like C2-type.				embryo development (GO:0009790)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCATCTTCTTCAACTTGGGCC	0.582																																						dbGAP											0													72.0	63.0	66.0					5																	139267080		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS4217.1, CCDS54910.1	5q23-q33	2013-01-11			ENSG00000158458	ENSG00000158458		"""Immunoglobulin superfamily / I-set domain containing"""	7998	protein-coding gene	gene with protein product	"""neural- and thymus-derived activator for ErbB kinases"", ""divergent of neuregulin-1"""	603818				9168114, 9168115	Standard	NM_004883		Approved	Don-1, NTAK, HRG2	uc003lev.2	O14511	OTTHUMG00000129241	ENST00000361474.1:c.717G>A	5.37:g.139267080C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_EG-like_dom,pfscan_Ig-like	p.L239	ENST00000361474.1	37	c.717	CCDS4217.1	5																																																																																			NRG2	-	pfscan_Ig-like	ENSG00000158458		0.582	NRG2-001	KNOWN	basic|CCDS	protein_coding	NRG2	HGNC	protein_coding	OTTHUMT00000251340.1	103	0.00	0	C	NM_013982		139267080	139267080	-1	no_errors	ENST00000545385	ensembl	human	known	69_37n	silent	95	22.13	27	SNP	1.000	T
NRG3	10718	genome.wustl.edu	37	10	84744988	84744988	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:84744988C>T	ENST00000404547.1	+	10	1790	c.1790C>T	c.(1789-1791)tCt>tTt	p.S597F	NRG3_ENST00000372142.2_Missense_Mutation_p.S376F|NRG3_ENST00000537893.1_Missense_Mutation_p.S223F|NRG3_ENST00000556918.1_Missense_Mutation_p.S403F|NRG3_ENST00000372141.2_Missense_Mutation_p.S573F|NRG3_ENST00000404576.2_Missense_Mutation_p.S377F|NRG3_ENST00000545131.1_Missense_Mutation_p.S223F			P56975	NRG3_HUMAN	neuregulin 3	597					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		AGGGCCAGTTCTGTGCCCATC	0.443																																						dbGAP											0													125.0	134.0	131.0					10																	84744988		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.1790C>T	10.37:g.84744988C>T	ENSP00000384796:p.Ser597Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	pfscan_EG-like_dom	p.S597F	ENST00000404547.1	37	c.1790	CCDS31233.1	10	.	.	.	.	.	.	.	.	.	.	C	17.44	3.391393	0.62066	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287;ENST00000372142;ENST00000404576;ENST00000556918;ENST00000545131;ENST00000537893	T;T;T;T;T;T;T	0.67523	0.34;0.49;0.55;-0.27;0.31;-0.15;-0.15	5.95	5.95	0.96441	.	0.000000	0.64402	D	0.000001	T	0.80248	0.4588	L	0.58101	1.795	0.58432	D	0.999996	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.91635	0.996;0.999;0.998;0.996	T	0.80677	-0.1276	10	0.87932	D	0	-9.9792	17.8962	0.88888	0.0:1.0:0.0:0.0	.	572;597;376;573	B9EGV5;P56975;P56975-3;P56975-4	.;NRG3_HUMAN;.;.	F	573;597;572;376;377;403;223;223	ENSP00000361214:S573F;ENSP00000384796:S597F;ENSP00000361215:S376F;ENSP00000385804:S377F;ENSP00000451376:S403F;ENSP00000441201:S223F;ENSP00000440377:S223F	ENSP00000361214:S573F	S	+	2	0	NRG3	84734968	0.999000	0.42202	0.990000	0.47175	0.999000	0.98932	5.274000	0.65569	2.827000	0.97445	0.650000	0.86243	TCT	NRG3	-	NULL	ENSG00000185737		0.443	NRG3-005	KNOWN	basic|CCDS	protein_coding	NRG3	HGNC	protein_coding	OTTHUMT00000412262.1	58	0.00	0	C	XM_166086		84744988	84744988	+1	no_errors	ENST00000404547	ensembl	human	known	69_37n	missense	34	26.09	12	SNP	0.998	T
NRIP3	56675	genome.wustl.edu	37	11	9005663	9005663	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:9005663C>G	ENST00000309166.3	-	5	684	c.571G>C	c.(571-573)Gag>Cag	p.E191Q	NRIP3_ENST00000531090.1_3'UTR	NM_020645.2	NP_065696.1	Q9NQ35	NRIP3_HUMAN	nuclear receptor interacting protein 3	191							aspartic-type endopeptidase activity (GO:0004190)			large_intestine(1)|lung(4)|skin(1)|stomach(1)	7				Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241)		AAGTTTTTCTCATTGTCATCT	0.398																																						dbGAP											0													127.0	128.0	128.0					11																	9005663		2201	4296	6497	-	-	-	SO:0001583	missense	0			AJ400877	CCDS31422.1	11p15.3	2008-02-05	2003-09-03	2003-09-05	ENSG00000175352	ENSG00000175352			1167	protein-coding gene	gene with protein product		613125	"""chromosome 11 open reading frame 14"""	C11orf14		11528127	Standard	NM_020645		Approved		uc001mhg.2	Q9NQ35	OTTHUMG00000165680	ENST00000309166.3:c.571G>C	11.37:g.9005663C>G	ENSP00000310205:p.Glu191Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86WD9	Missense_Mutation	SNP	pfam_Peptidase_aspartic_euk-pred,superfamily_Peptidase_aspartic	p.E191Q	ENST00000309166.3	37	c.571	CCDS31422.1	11	.	.	.	.	.	.	.	.	.	.	C	23.1	4.376477	0.82682	.	.	ENSG00000175352	ENST00000309166;ENST00000531142	T	0.44881	0.91	5.8	5.8	0.92144	Peptidase aspartic (1);Peptidase aspartic, eukaryotic predicted (1);	0.310505	0.35096	N	0.003444	T	0.45736	0.1357	L	0.54323	1.7	0.80722	D	1	P	0.35493	0.505	B	0.40659	0.336	T	0.18967	-1.0320	10	0.18710	T	0.47	.	18.8788	0.92349	0.0:1.0:0.0:0.0	.	191	Q9NQ35	NRIP3_HUMAN	Q	191;19	ENSP00000310205:E191Q	ENSP00000310205:E191Q	E	-	1	0	NRIP3	8962239	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.400000	0.59709	2.770000	0.95276	0.579000	0.79373	GAG	NRIP3	-	pfam_Peptidase_aspartic_euk-pred,superfamily_Peptidase_aspartic	ENSG00000175352		0.398	NRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRIP3	HGNC	protein_coding	OTTHUMT00000385774.1	65	0.00	0	C	NM_020645		9005663	9005663	-1	no_errors	ENST00000309166	ensembl	human	known	69_37n	missense	58	19.18	14	SNP	1.000	G
NRP1	8829	genome.wustl.edu	37	10	33496503	33496503	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:33496503C>T	ENST00000265371.4	-	11	2281	c.1756G>A	c.(1756-1758)Gaa>Aaa	p.E586K	NRP1_ENST00000374821.5_Missense_Mutation_p.E586K|NRP1_ENST00000374823.5_Missense_Mutation_p.E586K|NRP1_ENST00000374822.4_Missense_Mutation_p.E586K|NRP1_ENST00000395995.1_Missense_Mutation_p.E586K|NRP1_ENST00000374875.1_Missense_Mutation_p.E405K|NRP1_ENST00000374816.3_Missense_Mutation_p.E586K|NRP1_ENST00000374867.2_Missense_Mutation_p.E586K			O14786	NRP1_HUMAN	neuropilin 1	586					angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|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 peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TAATTACCTTCCACTTCACAG	0.493																																					Melanoma(104;886 1489 44640 45944 51153)	dbGAP											0													98.0	93.0	94.0					10																	33496503		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"""CD molecules"""	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.1756G>A	10.37:g.33496503C>T	ENSP00000265371:p.Glu586Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Nonsense_Mutation	SNP	NULL	p.W17*	ENST00000265371.4	37	c.51	CCDS7177.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.82|18.82	3.705560|3.705560	0.68615|0.68615	.|.	.|.	ENSG00000099250|ENSG00000099250	ENST00000265371;ENST00000374875;ENST00000374867;ENST00000395995;ENST00000374828;ENST00000374814;ENST00000374822;ENST00000374821;ENST00000374823;ENST00000374816|ENST00000431894	D;D;D;D;D;D;D;D|.	0.98876|.	-2.16;-3.27;-2.16;-2.19;-2.49;-5.2;-2.52;-5.2|.	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.52208|.	0.1720|.	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	P;P;P;D;D;P;P;P|.	0.65815|.	0.836;0.705;0.716;0.995;0.991;0.836;0.901;0.716|.	B;B;B;D;D;B;B;B|.	0.68943|.	0.231;0.124;0.139;0.961;0.915;0.231;0.36;0.139|.	T|.	0.46048|.	-0.9219|.	10|.	0.28530|.	T|.	0.3|.	.|.	19.7926|19.7926	0.96466|0.96466	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	586;586;586;586;586;586;405;586|.	A8K9V7;Q5T7F0;Q5T7F1;O14786-2;Q68DN3;O14786;Q5JWQ6;E9PEP6|.	.;.;.;.;.;NRP1_HUMAN;.;.|.	K|X	586;405;586;586;9;57;586;586;586;586|17	ENSP00000265371:E586K;ENSP00000364009:E405K;ENSP00000364001:E586K;ENSP00000379317:E586K;ENSP00000363955:E586K;ENSP00000363954:E586K;ENSP00000363956:E586K;ENSP00000363949:E586K|.	ENSP00000265371:E586K|.	E|W	-|-	1|3	0|0	NRP1|NRP1	33536509|33536509	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.955000|0.955000	0.61496|0.61496	7.461000|7.461000	0.80834|0.80834	2.670000|2.670000	0.90874|0.90874	0.655000|0.655000	0.94253|0.94253	GAA|TGG	NRP1	-	NULL	ENSG00000099250		0.493	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NRP1	HGNC	protein_coding	OTTHUMT00000051203.2	52	0.00	0	C			33496503	33496503	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000431894	ensembl	human	known	69_37n	nonsense	62	24.10	20	SNP	1.000	T
NRXN1	9378	genome.wustl.edu	37	2	50149365	50149365	+	Missense_Mutation	SNP	C	C	G	rs373723029		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:50149365C>G	ENST00000406316.2	-	22	5627	c.4151G>C	c.(4150-4152)aGa>aCa	p.R1384T	NRXN1_ENST00000401669.2_Missense_Mutation_p.R1414T|NRXN1_ENST00000406859.3_Missense_Mutation_p.R1384T|NRXN1_ENST00000401710.1_Missense_Mutation_p.R402T|NRXN1_ENST00000402717.3_Missense_Mutation_p.R1406T|NRXN1_ENST00000342183.5_Missense_Mutation_p.R349T|NRXN1_ENST00000404971.1_Missense_Mutation_p.R1454T|NRXN1_ENST00000405472.3_Missense_Mutation_p.R1406T	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1384					adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.R349I(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ATACGGCTCTCTGCCGCCTGC	0.512																																						dbGAP											1	Substitution - Missense(1)	breast(1)											39.0	34.0	36.0					2																	50149365		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.4151G>C	2.37:g.50149365C>G	ENSP00000384311:p.Arg1384Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_EGF-like,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.R1406T	ENST00000406316.2	37	c.4217	CCDS54360.1	2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	12.70|12.70|12.70	2.017675|2.017675|2.017675	0.35606|0.35606|0.35606	.|.|.	.|.|.	ENSG00000179915|ENSG00000179915|ENSG00000179915	ENST00000412315|ENST00000378262|ENST00000342183;ENST00000536347;ENST00000401710;ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	.|.|T;T;T;T;T;T;T;T	.|.|0.70986	.|.|0.99;2.19;0.17;0.17;-0.53;-0.42;-0.13;0.04	5.95|5.95|5.95	5.95|5.95|5.95	0.96441|0.96441|0.96441	.|.|.	.|.|4.127760	.|.|0.03340	.|.|U	.|.|0.194691	T|T|T	0.73418|0.73418|0.73418	0.3584|0.3584|0.3584	L|L|L	0.49778|0.49778|0.49778	1.585|1.585|1.585	0.21416|0.21416|0.21416	N|N|N	0.999698|0.999698|0.999698	.|.|B;B;B;B;B;B	.|.|0.32893	.|.|0.001;0.001;0.389;0.372;0.032;0.124	.|.|B;B;B;B;B;B	.|.|0.32677	.|.|0.001;0.009;0.15;0.051;0.044;0.031	T|T|T	0.64457|0.64457|0.64457	-0.6403|-0.6403|-0.6403	5|5|10	.|.|0.41790	.|.|T	.|.|0.15	.|.|.	18.5553|18.5553|18.5553	0.91081|0.91081|0.91081	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|.|49;1454;349;1384;1403;46	.|.|B4DIT5;Q9ULB1-3;P58400;F8WB18;A7E294;Q5HYI0	.|.|.;.;NRX1B_HUMAN;.;.;.	Q|H|T	117|50|349;303;402;1454;1384;1406;1414;1455;1406;1384	.|.|ENSP00000341184:R349T;ENSP00000385580:R402T;ENSP00000385142:R1454T;ENSP00000384311:R1384T;ENSP00000434015:R1406T;ENSP00000385017:R1414T;ENSP00000385434:R1406T;ENSP00000385681:R1384T	.|.|ENSP00000341184:R349T	E|Q|R	-|-|-	1|3|2	0|2|0	NRXN1|NRXN1|NRXN1	50002869|50002869|50002869	0.765000|0.765000|0.765000	0.28485|0.28485|0.28485	0.987000|0.987000|0.987000	0.45799|0.45799|0.45799	0.831000|0.831000|0.831000	0.47069|0.47069|0.47069	3.459000|3.459000|3.459000	0.53021|0.53021|0.53021	2.817000|2.817000|2.817000	0.96982|0.96982|0.96982	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	GAG|CAG|AGA	NRXN1	-	NULL	ENSG00000179915		0.512	NRXN1-001	KNOWN	basic|CCDS	protein_coding	NRXN1	HGNC	protein_coding	OTTHUMT00000325291.2	65	0.00	0	C			50149365	50149365	-1	no_errors	ENST00000402717	ensembl	human	known	69_37n	missense	62	22.50	18	SNP	0.882	G
NRXN2	9379	genome.wustl.edu	37	11	64418829	64418829	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:64418829G>C	ENST00000377551.1	-	13	3027	c.2816C>G	c.(2815-2817)tCc>tGc	p.S939C	NRXN2_ENST00000265459.6_Missense_Mutation_p.S939C|NRXN2_ENST00000409571.1_Missense_Mutation_p.S932C|AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000377559.3_Missense_Mutation_p.S899C			Q9P2S2	NRX2A_HUMAN	neurexin 2	939	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						GAGGTGCATGGAAGCATAGGC	0.572											OREG0021057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													99.0	71.0	80.0					11																	64418829		2201	4297	6498	-	-	-	SO:0001583	missense	0				CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.2816C>G	11.37:g.64418829G>C	ENSP00000366774:p.Ser939Cys	Somatic	1076	WXS	Illumina GAIIx	Phase_IV	A7E2C1|Q9Y2D6	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_EGF-like,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.S939C	ENST00000377551.1	37	c.2816	CCDS8077.1	11	.	.	.	.	.	.	.	.	.	.	G	23.9	4.465319	0.84425	.	.	ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32	4.17	4.17	0.49024	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	0.000000	0.42964	U	0.000628	D	0.91868	0.7426	H	0.94222	3.51	0.53005	D	0.99996	D;D;D	0.89917	1.0;0.966;0.997	D;P;P	0.80764	0.994;0.806;0.781	D	0.93956	0.7236	10	0.87932	D	0	.	14.0728	0.64870	0.0:0.0:1.0:0.0	.	899;939;685	Q9P2S2-2;Q9P2S2;E7EV67	.;NRX2A_HUMAN;.	C	939;899;939;899;932	ENSP00000366774:S939C;ENSP00000366782:S899C;ENSP00000265459:S939C;ENSP00000386416:S932C	ENSP00000265459:S939C	S	-	2	0	NRXN2	64175405	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.603000	0.98315	2.167000	0.68274	0.555000	0.69702	TCC	NRXN2	-	superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000110076		0.572	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRXN2	HGNC	protein_coding	OTTHUMT00000104967.3	61	0.00	0	G	NM_015080		64418829	64418829	-1	no_errors	ENST00000265459	ensembl	human	known	69_37n	missense	120	12.41	17	SNP	1.000	C
NRXN3	9369	genome.wustl.edu	37	14	80328293	80328293	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:80328293G>T	ENST00000557594.1	+	6	2853	c.1900G>T	c.(1900-1902)Gag>Tag	p.E634*	NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000281127.7_Nonsense_Mutation_p.E429*|NRXN3_ENST00000428277.2_Nonsense_Mutation_p.E456*|NRXN3_ENST00000335750.5_Nonsense_Mutation_p.E1058*|NRXN3_ENST00000554719.1_Nonsense_Mutation_p.E1058*	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	634					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CAAGGACAGGGAGTATTACGT	0.488																																						dbGAP											0													93.0	95.0	94.0					14																	80328293		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.1900G>T	14.37:g.80328293G>T	ENSP00000451672:p.Glu634*	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Nonsense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_EGF-like,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.E1058*	ENST00000557594.1	37	c.3172		14	.	.	.	.	.	.	.	.	.	.	G	42	9.216915	0.99103	.	.	ENSG00000021645	ENST00000330071;ENST00000554719;ENST00000335750;ENST00000557594;ENST00000281127;ENST00000428277	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.42695	D	0.993594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6525	0.99598	0.0:0.0:1.0:0.0	.	.	.	.	X	1640;1058;1058;634;429;456	.	.	E	+	1	0	NRXN3	79398046	1.000000	0.71417	0.991000	0.47740	0.823000	0.46562	9.869000	0.99810	2.890000	0.99128	0.585000	0.79938	GAG	NRXN3	-	NULL	ENSG00000021645		0.488	NRXN3-004	NOVEL	basic	protein_coding	NRXN3	HGNC	protein_coding	OTTHUMT00000413790.1	43	0.00	0	G	NM_001105250		80328293	80328293	+1	no_errors	ENST00000335750	ensembl	human	known	69_37n	nonsense	48	28.36	19	SNP	1.000	T
NSD1	64324	genome.wustl.edu	37	5	176562130	176562130	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:176562130G>A	ENST00000439151.2	+	2	71	c.26G>A	c.(25-27)aGa>aAa	p.R9K	NSD1_ENST00000354179.4_5'UTR|NSD1_ENST00000361032.4_Missense_Mutation_p.R9K|NSD1_ENST00000347982.4_5'UTR|NSD1_ENST00000511258.1_5'UTR	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	9					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)		GAACTACCCAGAAGAAATTGT	0.463			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												dbGAP		Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													99.0	103.0	102.0					5																	176562130		2203	4300	6503	-	-	-	SO:0001583	missense	0	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.26G>A	5.37:g.176562130G>A	ENSP00000395929:p.Arg9Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96PD8|Q96RN7	Missense_Mutation	SNP	pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.R9K	ENST00000439151.2	37	c.26	CCDS4412.1	5	.	.	.	.	.	.	.	.	.	.	G	16.47	3.132920	0.56828	.	.	ENSG00000165671	ENST00000439151;ENST00000361032	D;D	0.96651	-3.6;-4.08	5.19	5.19	0.71726	.	0.000000	0.56097	D	0.000033	D	0.94522	0.8236	N	0.08118	0	0.80722	D	1	P;P;D	0.59767	0.514;0.698;0.986	B;B;P	0.57620	0.325;0.237;0.824	D	0.95980	0.8977	10	0.87932	D	0	.	17.6524	0.88168	0.0:0.0:1.0:0.0	.	9;9;9	Q96L73-3;Q96L73;Q6PJ64	.;NSD1_HUMAN;.	K	9	ENSP00000395929:R9K;ENSP00000354310:R9K	ENSP00000354310:R9K	R	+	2	0	NSD1	176494736	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	5.600000	0.67599	2.686000	0.91538	0.650000	0.86243	AGA	NSD1	-	NULL	ENSG00000165671		0.463	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2	38	0.00	0	G	NM_172349		176562130	176562130	+1	no_errors	ENST00000439151	ensembl	human	known	69_37n	missense	16	66.67	32	SNP	1.000	A
NSD1	64324	genome.wustl.edu	37	5	176678835	176678835	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:176678835C>G	ENST00000439151.2	+	12	4791	c.4746C>G	c.(4744-4746)atC>atG	p.I1582M	NSD1_ENST00000354179.4_Missense_Mutation_p.I1313M|NSD1_ENST00000361032.4_Missense_Mutation_p.I1479M|NSD1_ENST00000347982.4_Missense_Mutation_p.I1313M	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1582					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)		GAAAATTTATCTGCAATGAAT	0.423			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												dbGAP		Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													121.0	119.0	120.0					5																	176678835		2203	4300	6503	-	-	-	SO:0001583	missense	0	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.4746C>G	5.37:g.176678835C>G	ENSP00000395929:p.Ile1582Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96PD8|Q96RN7	Missense_Mutation	SNP	pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.I1582M	ENST00000439151.2	37	c.4746	CCDS4412.1	5	.	.	.	.	.	.	.	.	.	.	C	17.71	3.457859	0.63401	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.95035	-3.59;-3.59;-3.59;-3.59	4.99	4.13	0.48395	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.64402	D	0.000011	D	0.95639	0.8582	L	0.49640	1.575	0.42989	D	0.994482	D;D;P	0.69078	0.997;0.997;0.754	D;D;P	0.69307	0.963;0.963;0.514	D	0.95454	0.8537	10	0.51188	T	0.08	.	13.9532	0.64131	0.0:0.9261:0.0:0.0738	.	1313;1479;1582	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	M	1313;1582;1313;1479	ENSP00000346111:I1313M;ENSP00000395929:I1582M;ENSP00000343209:I1313M;ENSP00000354310:I1479M	ENSP00000343209:I1313M	I	+	3	3	NSD1	176611441	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.575000	0.60908	1.253000	0.44018	-0.122000	0.15005	ATC	NSD1	-	superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	ENSG00000165671		0.423	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2	125	0.00	0	C	NM_172349		176678835	176678835	+1	no_errors	ENST00000439151	ensembl	human	known	69_37n	missense	84	25.00	28	SNP	1.000	G
NSF	4905	genome.wustl.edu	37	17	44832679	44832679	+	Splice_Site	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:44832679G>C	ENST00000398238.4	+	20	2264		c.e20-1		NSF_ENST00000225282.8_Splice_Site|NSF_ENST00000575068.1_Splice_Site	NM_006178.3	NP_006169.2	P46459	NSF_HUMAN	N-ethylmaleimide-sensitive factor						exocytosis (GO:0006887)|plasma membrane fusion (GO:0045026)|positive regulation of receptor recycling (GO:0001921)|potassium ion transport (GO:0006813)|protein transport (GO:0015031)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|syntaxin-1 binding (GO:0017075)			kidney(2)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14		Melanoma(429;0.203)	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)		GATGTATTTAGATGGATCCTG	0.398																																					Ovarian(25;472 742 1472 36813 50223)	dbGAP											0													126.0	112.0	117.0					17																	44832679		1876	4108	5984	-	-	-	SO:0001630	splice_region_variant	0				CCDS42354.1	17q21	2010-04-21			ENSG00000073969	ENSG00000073969		"""ATPases / AAA-type"""	8016	protein-coding gene	gene with protein product	"""N-ethylmaleimide-sensitive factor-like protein"""	601633				1315316, 8875895	Standard	NM_006178		Approved	SKD2	uc002iku.3	P46459	OTTHUMG00000134315	ENST00000398238.4:c.2158-1G>C	17.37:g.44832679G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2D9|B4DFA2|Q8N6D7|Q9UKZ2	Splice_Site	SNP	-	e20-1	ENST00000398238.4	37	c.2158-1	CCDS42354.1	17	.	.	.	.	.	.	.	.	.	.	G	22.5	4.299534	0.81136	.	.	ENSG00000073969	ENST00000398238;ENST00000225282	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4573	0.87610	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NSF	42187847	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	8.856000	0.92245	2.547000	0.85894	0.655000	0.94253	.	NSF	-	-	ENSG00000073969		0.398	NSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSF	HGNC	protein_coding	OTTHUMT00000259348.2	101	0.00	0	G	NM_006178	Intron	44832679	44832679	+1	no_errors	ENST00000398238	ensembl	human	known	69_37n	splice_site	148	14.37	25	SNP	1.000	C
NSFL1C	55968	genome.wustl.edu	37	20	1444998	1444998	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:1444998G>A	ENST00000216879.4	-	2	1046	c.179C>T	c.(178-180)tCa>tTa	p.S60L	NSFL1C_ENST00000353088.2_Missense_Mutation_p.S60L|NSFL1C_ENST00000476071.1_Missense_Mutation_p.S60L|NSFL1C_ENST00000350991.4_Missense_Mutation_p.S60L|NSFL1C_ENST00000381658.4_Intron	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	60						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						TCTGGACACTGAACTGGGGGT	0.522																																						dbGAP											0													184.0	173.0	177.0					20																	1444998		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.179C>T	20.37:g.1444998G>A	ENSP00000216879:p.Ser60Leu	Somatic		WXS	Illumina GAIIx	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.S60L	ENST00000216879.4	37	c.179	CCDS13015.1	20	.	.	.	.	.	.	.	.	.	.	G	19.94	3.919179	0.73098	.	.	ENSG00000088833	ENST00000353088;ENST00000476071;ENST00000216879;ENST00000350991	T;T;T;T	0.49432	0.78;0.82;0.81;0.81	5.11	5.11	0.69529	.	0.000000	0.64402	D	0.000001	T	0.66446	0.2790	M	0.63428	1.95	0.80722	D	1	D;D	0.63880	0.981;0.993	D;D	0.72338	0.943;0.977	T	0.68603	-0.5365	10	0.72032	D	0.01	-6.3057	16.9005	0.86112	0.0:0.0:1.0:0.0	.	60;60	Q9UNZ2-4;Q9UNZ2	.;NSF1C_HUMAN	L	60	ENSP00000338643:S60L;ENSP00000418529:S60L;ENSP00000216879:S60L;ENSP00000202584:S60L	ENSP00000216879:S60L	S	-	2	0	NSFL1C	1392998	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.732000	0.84908	2.641000	0.89580	0.591000	0.81541	TCA	NSFL1C	-	NULL	ENSG00000088833		0.522	NSFL1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NSFL1C	HGNC	protein_coding	OTTHUMT00000077525.2	70	0.00	0	G	NM_016143		1444998	1444998	-1	no_errors	ENST00000350991	ensembl	human	known	69_37n	missense	74	18.68	17	SNP	1.000	A
NSMCE2	286053	genome.wustl.edu	37	8	126194393	126194393	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:126194393G>C	ENST00000287437.3	+	5	529	c.313G>C	c.(313-315)Gag>Cag	p.E105Q	NSMCE2_ENST00000522563.1_Missense_Mutation_p.E105Q|NSMCE2_ENST00000517315.1_Missense_Mutation_p.E45Q	NM_173685.2	NP_775956.1	Q96MF7	NSE2_HUMAN	non-SMC element 2, MMS21 homolog (S. cerevisiae)	105					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|mitotic nuclear division (GO:0007067)|positive regulation of maintenance of mitotic sister chromatid cohesion (GO:0034184)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|protein sumoylation (GO:0016925)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			ATTATTGGTAGAGAAGAAATT	0.289																																						dbGAP											0													55.0	64.0	61.0					8																	126194393		2199	4296	6495	-	-	-	SO:0001583	missense	0			AK057002	CCDS6356.1	8q24.13	2013-01-28	2006-12-21	2006-07-05	ENSG00000156831	ENSG00000156831		"""Zinc fingers, MIZ-type"""	26513	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 7"""		"""chromosome 8 open reading frame 36"", ""non-SMC element 2 homolog (MMS21, S. cerevisiae)"""	C8orf36		12477932	Standard	NM_173685		Approved	FLJ32440, MMS21, NSE2, ZMIZ7	uc003yrw.2	Q96MF7	OTTHUMG00000164993	ENST00000287437.3:c.313G>C	8.37:g.126194393G>C	ENSP00000287437:p.Glu105Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N549	Missense_Mutation	SNP	pfscan_Znf_MIZ	p.E105Q	ENST00000287437.3	37	c.313	CCDS6356.1	8	.	.	.	.	.	.	.	.	.	.	G	1.399	-0.578534	0.03854	.	.	ENSG00000156831	ENST00000523741;ENST00000517532;ENST00000287437;ENST00000522563;ENST00000517315	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	5.77	2.81	0.32909	.	0.336333	0.26951	N	0.021675	T	0.24275	0.0588	N	0.10874	0.06	0.32449	N	0.545683	B;B	0.18461	0.028;0.003	B;B	0.12837	0.008;0.003	T	0.13953	-1.0490	10	0.22109	T	0.4	.	15.2557	0.73582	0.0:0.5389:0.4611:0.0	.	105;105	Q96MF7;E5RHW9	NSE2_HUMAN;.	Q	105;105;105;105;45	ENSP00000429383:E105Q;ENSP00000429612:E105Q;ENSP00000287437:E105Q;ENSP00000430668:E105Q;ENSP00000428846:E45Q	ENSP00000287437:E105Q	E	+	1	0	NSMCE2	126263575	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	0.639000	0.24690	0.890000	0.36211	0.585000	0.79938	GAG	NSMCE2	-	NULL	ENSG00000156831		0.289	NSMCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSMCE2	HGNC	protein_coding	OTTHUMT00000381378.1	41	0.00	0	G	NM_173685		126194393	126194393	+1	no_errors	ENST00000287437	ensembl	human	known	69_37n	missense	55	17.91	12	SNP	0.999	C
NT5C3A	51251	genome.wustl.edu	37	7	33055431	33055431	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:33055431C>A	ENST00000242210.7	-	8	836	c.760G>T	c.(760-762)Gat>Tat	p.D254Y	AVL9_ENST00000404479.1_Intron|NT5C3A_ENST00000409467.1_Missense_Mutation_p.D203Y|NT5C3A_ENST00000396152.2_Missense_Mutation_p.D215Y|NT5C3A_ENST00000610140.1_Missense_Mutation_p.D249Y|NT5C3A_ENST00000405342.1_Missense_Mutation_p.D215Y|NT5C3A_ENST00000381626.2_Missense_Mutation_p.D203Y	NM_001002009.2|NM_001002010.2	NP_001002009.1|NP_001002010.1	Q9H0P0	5NT3A_HUMAN	5'-nucleotidase, cytosolic IIIA	254					dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside metabolic process (GO:0006213)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	2'-phosphotransferase activity (GO:0008665)|5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)										AAGGCACCATCATGTTTGTTA	0.328																																						dbGAP											0													65.0	66.0	66.0					7																	33055431		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF312735	CCDS34616.1, CCDS34617.1, CCDS55101.1	7p14.3	2013-03-06	2013-03-06	2013-03-06	ENSG00000122643	ENSG00000122643	3.1.3.5		17820	protein-coding gene	gene with protein product	"""lupin"""	606224	"""5'-nucleotidase, cytosolic III"""	NT5C3		11042152, 10942414	Standard	NM_001002010		Approved	UMPH1, PSN1, PN-I, UMPH, P5'N-1, cN-III, p36, POMP, hUMP1	uc003tdk.4	Q9H0P0	OTTHUMG00000152983	ENST00000242210.7:c.760G>T	7.37:g.33055431C>A	ENSP00000242210:p.Asp254Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K253|B2RAA5|B8ZZC4|Q6IPZ1|Q6NXS6|Q7L3G6|Q9P0P5|Q9UC42|Q9UC43|Q9UC44|Q9UC45	Missense_Mutation	SNP	pfam_Pyrimidine_nucleotidase_eu,superfamily_HAD-like_dom,tigrfam_Pyrimidine_nucleotidase_eu	p.D254Y	ENST00000242210.7	37	c.760	CCDS34616.1	7	.	.	.	.	.	.	.	.	.	.	C	21.3	4.124781	0.77436	.	.	ENSG00000122643	ENST00000381626;ENST00000396152;ENST00000242210;ENST00000405342;ENST00000409467	D;D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83;-1.83	5.65	4.77	0.60923	HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.90310	0.6969	L	0.58302	1.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.96	D	0.90689	0.4611	10	0.56958	D	0.05	.	14.4263	0.67218	0.0:0.9294:0.0:0.0706	.	254;215	Q9H0P0;Q9H0P0-1	5NT3_HUMAN;.	Y	203;215;254;215;203	ENSP00000371039:D203Y;ENSP00000379456:D215Y;ENSP00000242210:D254Y;ENSP00000385261:D215Y;ENSP00000387166:D203Y	ENSP00000242210:D254Y	D	-	1	0	NT5C3	33021956	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.941000	0.70195	1.386000	0.46466	0.655000	0.94253	GAT	NT5C3	-	pfam_Pyrimidine_nucleotidase_eu,superfamily_HAD-like_dom,tigrfam_Pyrimidine_nucleotidase_eu	ENSG00000122643		0.328	NT5C3A-001	KNOWN	basic|CCDS	protein_coding	NT5C3	HGNC	protein_coding	OTTHUMT00000328880.1	125	0.00	0	C	NM_016489		33055431	33055431	-1	no_errors	ENST00000242210	ensembl	human	known	69_37n	missense	75	15.73	14	SNP	1.000	A
NSUN5	55695	genome.wustl.edu	37	7	72718967	72718967	+	Silent	SNP	G	G	A	rs574850358		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:72718967G>A	ENST00000252594.6	-	5	643	c.628C>T	c.(628-630)Ctg>Ttg	p.L210L	NSUN5_ENST00000438747.2_Silent_p.L210L|NSUN5_ENST00000428206.1_Silent_p.L172L|NSUN5_ENST00000310326.8_Silent_p.L210L			Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	210					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)				CTGTCCTGCAGAATGAGGTGT	0.572													.|||	1	0.000199681	0.0	0.0	5008	,	,		19209	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													33.0	32.0	32.0					7																	72718967		2202	4278	6480	-	-	-	SO:0001819	synonymous_variant	0			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.628C>T	7.37:g.72718967G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KX04|B4DP79|G3V0G9|Q6ZUI8|Q96HT9|Q9NW70	Silent	SNP	pfam_Fmu/NOL1/Nop2p,prints_RCMT	p.L210	ENST00000252594.6	37	c.628	CCDS5547.1	7																																																																																			NSUN5	-	pfam_Fmu/NOL1/Nop2p,prints_RCMT	ENSG00000130305		0.572	NSUN5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NSUN5	HGNC	protein_coding	OTTHUMT00000252113.1	101	0.00	0	G	NM_148956		72718967	72718967	-1	no_errors	ENST00000438747	ensembl	human	known	69_37n	silent	130	22.16	37	SNP	0.991	A
NT5DC3	51559	genome.wustl.edu	37	12	104190689	104190689	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:104190689G>C	ENST00000392876.3	-	6	776	c.736C>G	c.(736-738)Ctg>Gtg	p.L246V	NT5DC3_ENST00000465502.1_5'UTR	NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	246						cytosol (GO:0005829)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						TCTTTGTACAGATGCACAGGC	0.473																																						dbGAP											0													184.0	161.0	169.0					12																	104190689		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB032786	CCDS41824.1	12q22-q23.1	2006-02-03			ENSG00000111696	ENSG00000111696			30826	protein-coding gene	gene with protein product		611076					Standard	NM_001031701		Approved	TU12B1-TY, FLJ11266	uc010swe.1	Q86UY8	OTTHUMG00000157017	ENST00000392876.3:c.736C>G	12.37:g.104190689G>C	ENSP00000376615:p.Leu246Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NUM7|Q9P2T2|Q9P2T3	Missense_Mutation	SNP	pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl	p.L246V	ENST00000392876.3	37	c.736	CCDS41824.1	12	.	.	.	.	.	.	.	.	.	.	G	15.45	2.836946	0.50951	.	.	ENSG00000111696	ENST00000392876	T	0.33216	1.42	5.6	4.7	0.59300	HAD-like domain (1);	0.000000	0.85682	D	0.000000	T	0.39835	0.1093	M	0.62088	1.915	0.54753	D	0.999988	P	0.44946	0.846	P	0.47786	0.557	T	0.16041	-1.0416	10	0.30078	T	0.28	-25.9382	14.8505	0.70292	0.0699:0.0:0.9301:0.0	.	246	Q86UY8	NT5D3_HUMAN	V	246	ENSP00000376615:L246V	ENSP00000376615:L246V	L	-	1	2	NT5DC3	102714819	1.000000	0.71417	0.996000	0.52242	0.534000	0.34807	5.339000	0.65953	1.339000	0.45563	0.561000	0.74099	CTG	NT5DC3	-	pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl	ENSG00000111696		0.473	NT5DC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NT5DC3	HGNC	protein_coding	OTTHUMT00000347118.2	86	0.00	0	G	NM_016575		104190689	104190689	-1	no_errors	ENST00000392876	ensembl	human	known	69_37n	missense	98	21.60	27	SNP	1.000	C
NTRK1	4914	genome.wustl.edu	37	1	156843686	156843686	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:156843686C>T	ENST00000524377.1	+	8	1153	c.1112C>T	c.(1111-1113)tCc>tTc	p.S371F	NTRK1_ENST00000358660.3_Missense_Mutation_p.S371F|NTRK1_ENST00000392302.2_Missense_Mutation_p.S341F|NTRK1_ENST00000368196.3_Missense_Mutation_p.S371F	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	371					activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	GGCCAGGCCTCCGCCTCCATC	0.642			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)																												dbGAP		Dom	yes		1	1q21-q22	4914	"""neurotrophic tyrosine kinase, receptor, type 1"""		E	0													61.0	40.0	47.0					1																	156843686		2196	4295	6491	-	-	-	SO:0001583	missense	0			Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8031	protein-coding gene	gene with protein product	"""high affinity nerve growth factor receptor"""	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.1112C>T	1.37:g.156843686C>T	ENSP00000431418:p.Ser371Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Cys-rich_flank_reg_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_neurotrophic_rcpt_1,prints_Tyr_kinase_NGF_rcpt	p.S371F	ENST00000524377.1	37	c.1112	CCDS1161.1	1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.258064	0.39896	.	.	ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377;ENST00000358660	T;T;T;T	0.34667	1.35;1.35;1.35;1.35	5.95	2.81	0.32909	Immunoglobulin-like fold (1);	0.907674	0.09396	N	0.807924	T	0.21022	0.0506	L	0.47190	1.495	0.09310	N	1	P;P;P;P	0.48764	0.787;0.915;0.571;0.86	P;B;B;B	0.46850	0.529;0.239;0.202;0.392	T	0.05289	-1.0894	9	.	.	.	.	8.8902	0.35429	0.2627:0.6658:0.0:0.0715	.	371;371;371;341	A8K3Z4;P04629-2;P04629;A6NF12	.;.;NTRK1_HUMAN;.	F	341;371;371;371	ENSP00000376120:S341F;ENSP00000357179:S371F;ENSP00000431418:S371F;ENSP00000351486:S371F	.	S	+	2	0	NTRK1	155110310	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	0.510000	0.22723	1.484000	0.48361	0.655000	0.94253	TCC	NTRK1	-	NULL	ENSG00000198400		0.642	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NTRK1	HGNC	protein_coding	OTTHUMT00000392279.1	38	0.00	0	C	NM_002529		156843686	156843686	+1	no_errors	ENST00000524377	ensembl	human	known	69_37n	missense	40	28.57	16	SNP	0.014	T
NTRK2	4915	genome.wustl.edu	37	9	87325699	87325699	+	Silent	SNP	C	C	T	rs201185817		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:87325699C>T	ENST00000323115.4	+	5	929	c.576C>T	c.(574-576)ccC>ccT	p.P192P	NTRK2_ENST00000304053.6_Silent_p.P192P|NTRK2_ENST00000376213.1_Silent_p.P192P|NTRK2_ENST00000359847.3_Silent_p.P192P|NTRK2_ENST00000395882.1_Silent_p.P192P|NTRK2_ENST00000395866.2_Silent_p.P36P|NTRK2_ENST00000376214.1_Silent_p.P192P|NTRK2_ENST00000277120.3_Silent_p.P192P|NTRK2_ENST00000376208.1_Silent_p.P192P			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	192	LRRCT.				activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	TGCAGATACCCAATTGTGGTA	0.403										TSP Lung(25;0.17)																												dbGAP											0													101.0	98.0	99.0					9																	87325699		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.576C>T	9.37:g.87325699C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_2	p.P192	ENST00000323115.4	37	c.576	CCDS35050.1	9																																																																																			NTRK2	-	smart_Cys-rich_flank_reg_C	ENSG00000148053		0.403	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTRK2	HGNC	protein_coding	OTTHUMT00000052882.1	87	0.00	0	C			87325699	87325699	+1	no_errors	ENST00000277120	ensembl	human	known	69_37n	silent	90	18.75	21	SNP	1.000	T
NTRK2	4915	genome.wustl.edu	37	9	87636238	87636238	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:87636238G>C	ENST00000323115.4	+	17	2708	c.2355G>C	c.(2353-2355)ctG>ctC	p.L785L	NTRK2_ENST00000376213.1_Silent_p.L785L|NTRK2_ENST00000376214.1_Silent_p.L801L|NTRK2_ENST00000277120.3_Silent_p.L801L			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	785	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	TGTATGAGCTGATGCTGGGGT	0.577										TSP Lung(25;0.17)																												dbGAP											0													80.0	77.0	78.0					9																	87636238		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.2355G>C	9.37:g.87636238G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_2	p.L801	ENST00000323115.4	37	c.2403	CCDS35050.1	9																																																																																			NTRK2	-	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	ENSG00000148053		0.577	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTRK2	HGNC	protein_coding	OTTHUMT00000052882.1	51	0.00	0	G			87636238	87636238	+1	no_errors	ENST00000277120	ensembl	human	known	69_37n	silent	25	50.98	26	SNP	1.000	C
NUAK1	9891	genome.wustl.edu	37	12	106464648	106464648	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:106464648G>C	ENST00000261402.2	-	6	2115	c.736C>G	c.(736-738)Ctt>Gtt	p.L246V		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	246	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of cellular senescence (GO:2000772)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						CCATAAACAAGAGTGTAAAGC	0.527																																						dbGAP											0													94.0	85.0	88.0					12																	106464648		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011109	CCDS31892.1	12q23.3	2005-08-09				ENSG00000074590			14311	protein-coding gene	gene with protein product	"""AMP-activated protein kinase family member 5"""	608130				12409306, 13679856	Standard	NM_014840		Approved	ARK5, KIAA0537, NuaK1	uc001tlj.1	O60285	OTTHUMG00000169763	ENST00000261402.2:c.736C>G	12.37:g.106464648G>C	ENSP00000261402:p.Leu246Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MD39|Q96KA8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L246V	ENST00000261402.2	37	c.736	CCDS31892.1	12	.	.	.	.	.	.	.	.	.	.	G	21.9	4.222268	0.79464	.	.	ENSG00000074590	ENST00000261402;ENST00000548902	T;T	0.34072	1.38;1.38	4.59	4.59	0.56863	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.47093	D	0.000258	T	0.63438	0.2511	M	0.81682	2.555	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.70432	-0.4873	10	0.87932	D	0	.	17.7838	0.88531	0.0:0.0:1.0:0.0	.	246	O60285	NUAK1_HUMAN	V	246;115	ENSP00000261402:L246V;ENSP00000448288:L115V	ENSP00000261402:L246V	L	-	1	0	NUAK1	104988778	1.000000	0.71417	0.088000	0.20740	0.951000	0.60555	6.719000	0.74718	2.279000	0.76181	0.561000	0.74099	CTT	NUAK1	-	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	ENSG00000074590		0.527	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUAK1	HGNC	protein_coding	OTTHUMT00000405767.2	61	0.00	0	G	NM_014840		106464648	106464648	-1	no_errors	ENST00000261402	ensembl	human	known	69_37n	missense	96	15.04	17	SNP	1.000	C
NUCB1	4924	genome.wustl.edu	37	19	49422292	49422292	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:49422292G>C	ENST00000405315.4	+	9	1156	c.822G>C	c.(820-822)gaG>gaC	p.E274D	NUCB1_ENST00000485798.1_Intron|NUCB1_ENST00000407032.1_Missense_Mutation_p.E274D|NUCB1-AS1_ENST00000416432.1_RNA|NUCB1_ENST00000263273.5_Missense_Mutation_p.E274D	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	274	Binds to GNAI2 and GNAI3. {ECO:0000250}.|EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		TGCAGCTGGAGAAAGTGTACG	0.582																																						dbGAP											0													44.0	44.0	44.0					19																	49422292		2202	4300	6502	-	-	-	SO:0001583	missense	0			BC002356	CCDS12740.1	19q13.33	2013-01-10			ENSG00000104805	ENSG00000104805		"""EF-hand domain containing"""	8043	protein-coding gene	gene with protein product		601323				8661046	Standard	NM_006184		Approved	NUC, Calnuc	uc002plb.4	Q02818	OTTHUMG00000152514	ENST00000405315.4:c.822G>C	19.37:g.49422292G>C	ENSP00000385923:p.Glu274Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RD64|Q15838|Q7Z4J7|Q9BUR1	Missense_Mutation	SNP	pfscan_EF_HAND_2	p.E274D	ENST00000405315.4	37	c.822	CCDS12740.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.6|20.6	4.014889|4.014889	0.75161|0.75161	.|.	.|.	ENSG00000104805|ENSG00000104805	ENST00000405315;ENST00000407032;ENST00000263273|ENST00000424608	T;T;T|.	0.71579|.	-0.58;-0.58;-0.58|.	4.61|4.61	3.57|3.57	0.40892|0.40892	EF-hand-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.53610|0.53610	0.1807|0.1807	L|L	0.38531|0.38531	1.155|1.155	0.80722|0.80722	D|D	1|1	D;D|.	0.71674|.	0.998;0.998|.	D;D|.	0.65573|.	0.936;0.936|.	T|T	0.48456|0.48456	-0.9034|-0.9034	10|5	0.24483|.	T|.	0.36|.	.|.	11.047|11.047	0.47865|0.47865	0.0948:0.0:0.9052:0.0|0.0948:0.0:0.9052:0.0	.|.	274;274|.	Q02818;Q53GX6|.	NUCB1_HUMAN;.|.	D|T	274|244	ENSP00000385923:E274D;ENSP00000385211:E274D;ENSP00000263273:E274D|.	ENSP00000263273:E274D|.	E|R	+|+	3|2	2|0	NUCB1|NUCB1	54114104|54114104	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	6.076000|6.076000	0.71267|0.71267	1.262000|1.262000	0.44165|0.44165	0.591000|0.591000	0.81541|0.81541	GAG|AGA	NUCB1	-	pfscan_EF_HAND_2	ENSG00000104805		0.582	NUCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUCB1	HGNC	protein_coding	OTTHUMT00000326545.2	63	0.00	0	G	NM_006184		49422292	49422292	+1	no_errors	ENST00000263273	ensembl	human	known	69_37n	missense	60	17.81	13	SNP	1.000	C
NUCB1	4924	genome.wustl.edu	37	19	49425159	49425159	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:49425159G>C	ENST00000405315.4	+	12	1583	c.1249G>C	c.(1249-1251)Gag>Cag	p.E417Q	NUCB1_ENST00000485798.1_3'UTR|NUCB1_ENST00000407032.1_Missense_Mutation_p.E417Q|NUCB1_ENST00000263273.5_Missense_Mutation_p.E417Q	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	417						endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		TGCCCACCCTGAGGGGCAGCT	0.682																																						dbGAP											0													16.0	18.0	17.0					19																	49425159		2198	4290	6488	-	-	-	SO:0001583	missense	0			BC002356	CCDS12740.1	19q13.33	2013-01-10			ENSG00000104805	ENSG00000104805		"""EF-hand domain containing"""	8043	protein-coding gene	gene with protein product		601323				8661046	Standard	NM_006184		Approved	NUC, Calnuc	uc002plb.4	Q02818	OTTHUMG00000152514	ENST00000405315.4:c.1249G>C	19.37:g.49425159G>C	ENSP00000385923:p.Glu417Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RD64|Q15838|Q7Z4J7|Q9BUR1	Missense_Mutation	SNP	pfscan_EF_HAND_2	p.E417Q	ENST00000405315.4	37	c.1249	CCDS12740.1	19	.	.	.	.	.	.	.	.	.	.	G	4.320	0.058675	0.08339	.	.	ENSG00000104805	ENST00000405315;ENST00000407032;ENST00000263273	T;T;T	0.17054	2.3;2.3;2.3	3.23	3.23	0.37069	.	0.431699	0.23836	N	0.044088	T	0.10723	0.0262	N	0.24115	0.695	0.20638	N	0.999878	B	0.06786	0.001	B	0.04013	0.001	T	0.18777	-1.0326	10	0.27785	T	0.31	.	10.2156	0.43166	0.0:0.0:1.0:0.0	.	417	Q02818	NUCB1_HUMAN	Q	417	ENSP00000385923:E417Q;ENSP00000385211:E417Q;ENSP00000263273:E417Q	ENSP00000263273:E417Q	E	+	1	0	NUCB1	54116971	0.547000	0.26465	0.334000	0.25495	0.052000	0.14988	1.102000	0.31050	2.125000	0.65367	0.313000	0.20887	GAG	NUCB1	-	NULL	ENSG00000104805		0.682	NUCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUCB1	HGNC	protein_coding	OTTHUMT00000326545.2	14	0.00	0	G	NM_006184		49425159	49425159	+1	no_errors	ENST00000263273	ensembl	human	known	69_37n	missense	13	31.58	6	SNP	0.660	C
NUDCD1	84955	genome.wustl.edu	37	8	110255436	110255436	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:110255436G>T	ENST00000239690.4	-	10	1928	c.1554C>A	c.(1552-1554)ttC>ttA	p.F518L	NUDCD1_ENST00000427660.2_Missense_Mutation_p.F489L	NM_032869.3	NP_116258.2			NudC domain containing 1											breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			GACGATAGATGAATACTCGAC	0.463																																						dbGAP											0													211.0	206.0	208.0					8																	110255436		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF283302	CCDS6312.1, CCDS47910.1	8q23	2005-02-07			ENSG00000120526	ENSG00000120526			24306	protein-coding gene	gene with protein product		606109				11416219	Standard	NM_032869		Approved	CML66, FLJ14991	uc003ynb.4	Q96RS6	OTTHUMG00000164931	ENST00000239690.4:c.1554C>A	8.37:g.110255436G>T	ENSP00000239690:p.Phe518Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain	p.F518L	ENST00000239690.4	37	c.1554	CCDS6312.1	8	.	.	.	.	.	.	.	.	.	.	G	26.2	4.717222	0.89205	.	.	ENSG00000120526	ENST00000239690;ENST00000427660	T;T	0.25579	1.81;1.79	5.23	4.31	0.51392	.	0.000000	0.85682	D	0.000000	T	0.36248	0.0960	L	0.43646	1.37	0.53688	D	0.999974	P;D;D	0.57899	0.885;0.981;0.981	P;P;P	0.57911	0.61;0.76;0.829	T	0.07654	-1.0761	10	0.51188	T	0.08	-4.169	12.2661	0.54679	0.0876:0.0:0.9124:0.0	.	431;518;489	Q96RS6-3;Q96RS6;Q96RS6-2	.;NUDC1_HUMAN;.	L	518;489	ENSP00000239690:F518L;ENSP00000410707:F489L	ENSP00000239690:F518L	F	-	3	2	NUDCD1	110324612	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.006000	0.63978	1.246000	0.43901	-0.355000	0.07637	TTC	NUDCD1	-	NULL	ENSG00000120526		0.463	NUDCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDCD1	HGNC	protein_coding	OTTHUMT00000380996.1	51	0.00	0	G	NM_032869		110255436	110255436	-1	no_errors	ENST00000239690	ensembl	human	known	69_37n	missense	77	17.20	16	SNP	1.000	T
NUDCD1	84955	genome.wustl.edu	37	8	110293355	110293355	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:110293355G>A	ENST00000239690.4	-	6	1244	c.870C>T	c.(868-870)acC>acT	p.T290T	NUDCD1_ENST00000427660.2_Silent_p.T261T	NM_032869.3	NP_116258.2			NudC domain containing 1											breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			GAAGCCGTATGGTTACTGTCA	0.363																																						dbGAP											0													125.0	111.0	116.0					8																	110293355		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF283302	CCDS6312.1, CCDS47910.1	8q23	2005-02-07			ENSG00000120526	ENSG00000120526			24306	protein-coding gene	gene with protein product		606109				11416219	Standard	NM_032869		Approved	CML66, FLJ14991	uc003ynb.4	Q96RS6	OTTHUMG00000164931	ENST00000239690.4:c.870C>T	8.37:g.110293355G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain	p.T290	ENST00000239690.4	37	c.870	CCDS6312.1	8																																																																																			NUDCD1	-	pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain	ENSG00000120526		0.363	NUDCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDCD1	HGNC	protein_coding	OTTHUMT00000380996.1	90	0.00	0	G	NM_032869		110293355	110293355	-1	no_errors	ENST00000239690	ensembl	human	known	69_37n	silent	81	16.49	16	SNP	0.024	A
NUDT4	11163	genome.wustl.edu	37	12	93788440	93788440	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:93788440G>A	ENST00000415493.2	+	2	582	c.155G>A	c.(154-156)gGa>gAa	p.G52E	NUDT4_ENST00000547014.1_5'UTR|NUDT4_ENST00000337179.5_Missense_Mutation_p.G52E|NUDT4_ENST00000548662.1_5'UTR|NUDT4_ENST00000549992.1_5'UTR	NM_019094.4	NP_061967.3	Q9NZJ9	NUDT4_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 4	52	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				calcium-mediated signaling (GO:0019722)|cyclic nucleotide metabolic process (GO:0009187)|cyclic-nucleotide-mediated signaling (GO:0019935)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|regulation of RNA export from nucleus (GO:0046831)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)|snoRNA binding (GO:0030515)			endometrium(2)|kidney(1)|lung(2)	5						CCAGGAGGAGGAATGGAACCC	0.507																																						dbGAP											0													51.0	46.0	48.0					12																	93788440		2180	4263	6443	-	-	-	SO:0001583	missense	0			AF067803	CCDS9044.1, CCDS44952.1, CCDS73504.1	12q21	2008-09-04			ENSG00000173598	ENSG00000173598		"""Nudix motif containing"""	8051	protein-coding gene	gene with protein product	"""diphosphoinositol polyphosphate phosphohydrolase type 2"""	609229				10777568, 11376937	Standard	XM_005268595		Approved	DIPP2, HDCMB47P, KIAA0487, DIPP2alpha, DIPP2beta	uc001tcm.3	Q9NZJ9	OTTHUMG00000170155	ENST00000415493.2:c.155G>A	12.37:g.93788440G>A	ENSP00000406612:p.Gly52Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z916|Q4AEJ6|Q53EZ2|Q68DD7|Q9NPC5|Q9NS30|Q9NZK0|Q9NZK1	Missense_Mutation	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	p.G52E	ENST00000415493.2	37	c.155	CCDS44952.1	12	.	.	.	.	.	.	.	.	.	.	G	35	5.588457	0.96590	.	.	ENSG00000173598	ENST00000337179;ENST00000415493	T;T	0.46451	0.87;0.87	5.54	5.54	0.83059	NUDIX hydrolase domain (3);NUDIX hydrolase, conserved site (1);NUDIX hydrolase domain-like (1);	0.000000	0.85682	D	0.000000	T	0.68146	0.2969	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	T	0.71358	-0.4617	10	0.87932	D	0	-27.1555	19.5464	0.95299	0.0:0.0:1.0:0.0	.	52;52	Q9NZJ9-2;Q9NZJ9	.;NUDT4_HUMAN	E	52	ENSP00000338352:G52E;ENSP00000406612:G52E	ENSP00000338352:G52E	G	+	2	0	NUDT4	92312571	1.000000	0.71417	0.988000	0.46212	0.950000	0.60333	9.614000	0.98353	2.615000	0.88500	0.558000	0.71614	GGA	NUDT4	-	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	ENSG00000173598		0.507	NUDT4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NUDT4	HGNC	protein_coding	OTTHUMT00000407702.1	96	0.00	0	G	NM_019094		93788440	93788440	+1	no_errors	ENST00000337179	ensembl	human	known	69_37n	missense	75	19.35	18	SNP	1.000	A
NUF2	83540	genome.wustl.edu	37	1	163309205	163309205	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:163309205C>T	ENST00000271452.3	+	8	823	c.544C>T	c.(544-546)Cag>Tag	p.Q182*	NUF2_ENST00000524800.1_Nonsense_Mutation_p.Q182*|NUF2_ENST00000367900.3_Nonsense_Mutation_p.Q182*	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	182	Interaction with the N-terminus of NDC80.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					AGAGTTCAAGCAGCTTTCAGA	0.343																																						dbGAP											0													101.0	98.0	99.0					1																	163309205		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BG354574	CCDS1245.1	1q23.3	2013-07-03	2013-07-03	2006-11-07	ENSG00000143228	ENSG00000143228			14621	protein-coding gene	gene with protein product	"""cancer/testis antigen 106"""	611772	"""cell division cycle associated 1"", ""NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae)"""	CDCA1		11266451, 11685532	Standard	NM_031423		Approved	NUF2R, CT106	uc001gcr.1	Q9BZD4	OTTHUMG00000034275	ENST00000271452.3:c.544C>T	1.37:g.163309205C>T	ENSP00000271452:p.Gln182*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WU69|Q96HJ4|Q96Q78	Nonsense_Mutation	SNP	pfam_Kinetochore_Nuf2	p.Q182*	ENST00000271452.3	37	c.544	CCDS1245.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.016793	0.97205	.	.	ENSG00000143228	ENST00000524800;ENST00000442820;ENST00000367900;ENST00000271452	.	.	.	4.97	4.97	0.65823	.	0.331894	0.31438	N	0.007644	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	-13.6058	13.9276	0.63972	0.0:1.0:0.0:0.0	.	.	.	.	X	182	.	ENSP00000271452:Q182X	Q	+	1	0	NUF2	161575829	1.000000	0.71417	0.961000	0.40146	0.948000	0.59901	2.627000	0.46469	2.755000	0.94549	0.591000	0.81541	CAG	NUF2	-	NULL	ENSG00000143228		0.343	NUF2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NUF2	HGNC	protein_coding	OTTHUMT00000082812.1	124	0.00	0	C	NM_145697		163309205	163309205	+1	no_errors	ENST00000271452	ensembl	human	known	69_37n	nonsense	127	28.25	50	SNP	0.988	T
NUGGC	389643	genome.wustl.edu	37	8	27887888	27887888	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:27887888C>G	ENST00000413272.2	-	16	2098	c.1956G>C	c.(1954-1956)aaG>aaC	p.K652N	NUGGC_ENST00000341513.6_Missense_Mutation_p.K652N	NM_001010906.1	NP_001010906.1	Q68CJ6	SLIP_HUMAN	nuclear GTPase, germinal center associated	652					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)										AGATCCTCCTCTTCCTTCTGA	0.562																																						dbGAP											0													48.0	54.0	52.0					8																	27887888		2029	4154	6183	-	-	-	SO:0001583	missense	0			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.1956G>C	8.37:g.27887888C>G	ENSP00000408697:p.Lys652Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZP73	Missense_Mutation	SNP	pfam_Dynamin_GTPase	p.K652N	ENST00000413272.2	37	c.1956	CCDS47833.1	8	.	.	.	.	.	.	.	.	.	.	C	16.50	3.142019	0.57044	.	.	ENSG00000189233	ENST00000413272;ENST00000341513	T;T	0.18338	2.23;2.22	4.93	2.05	0.26809	.	0.000000	0.85682	D	0.000000	T	0.25975	0.0633	L	0.34521	1.04	0.39023	D	0.959772	D	0.89917	1.0	D	0.91635	0.999	T	0.02190	-1.1198	10	0.62326	D	0.03	-25.2563	7.9815	0.30185	0.0:0.7274:0.0:0.2726	.	652	Q68CJ6	SLIP_HUMAN	N	652	ENSP00000408697:K652N;ENSP00000345031:K652N	ENSP00000345031:K652N	K	-	3	2	C8orf80	27943807	0.970000	0.33590	0.959000	0.39883	0.713000	0.41058	0.769000	0.26604	0.179000	0.19938	0.563000	0.77884	AAG	NUGGC	-	NULL	ENSG00000189233		0.562	NUGGC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NUGGC	HGNC	protein_coding	OTTHUMT00000342494.1	52	0.00	0	C	NM_001010906		27887888	27887888	-1	no_errors	ENST00000341513	ensembl	human	known	69_37n	missense	23	56.60	30	SNP	0.997	G
NUMA1	4926	genome.wustl.edu	37	11	71727075	71727075	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:71727075G>A	ENST00000393695.3	-	15	1805	c.1474C>T	c.(1474-1476)Cat>Tat	p.H492Y	RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000358965.6_Missense_Mutation_p.H492Y|NUMA1_ENST00000351960.6_Intron	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CGGGCCCCATGAGCCTGGGAG	0.587			T	RARA	APL						OREG0021187	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP		Dom	yes		11	11q13	4926	nuclear mitotic apparatus protein 1		L	0													64.0	68.0	67.0					11																	71727075		2200	4293	6493	-	-	-	SO:0001583	missense	0			Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.1474C>T	11.37:g.71727075G>A	ENSP00000377298:p.His492Tyr	Somatic	1132	WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	superfamily_Prefoldin	p.H492Y	ENST00000393695.3	37	c.1474	CCDS31633.1	11	.	.	.	.	.	.	.	.	.	.	G	11.94	1.789184	0.31685	.	.	ENSG00000137497	ENST00000358965;ENST00000393695;ENST00000359652;ENST00000542977;ENST00000537217	T;T;T;T	0.42513	2.78;2.78;1.56;0.97	5.67	3.71	0.42584	.	0.160045	0.43919	D	0.000514	T	0.26195	0.0639	N	0.08118	0	0.21473	N	0.999675	B;B;B	0.22909	0.077;0.0;0.077	B;B;B	0.25140	0.058;0.001;0.058	T	0.21042	-1.0257	10	0.40728	T	0.16	.	15.7675	0.78138	0.0:0.2773:0.7227:0.0	.	498;492;492	Q4LE64;Q14980-2;Q14980	.;.;NUMA1_HUMAN	Y	492;492;55;492;492	ENSP00000351851:H492Y;ENSP00000377298:H492Y;ENSP00000444880:H492Y;ENSP00000442936:H492Y	ENSP00000351851:H492Y	H	-	1	0	NUMA1	71404723	0.997000	0.39634	0.996000	0.52242	0.725000	0.41563	3.079000	0.50104	1.360000	0.45960	0.561000	0.74099	CAT	NUMA1	-	superfamily_Prefoldin	ENSG00000137497		0.587	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUMA1	HGNC	protein_coding	OTTHUMT00000395769.1	72	0.00	0	G			71727075	71727075	-1	no_errors	ENST00000393695	ensembl	human	known	69_37n	missense	52	40.23	35	SNP	1.000	A
NUMB	8650	genome.wustl.edu	37	14	73743429	73743429	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:73743429C>T	ENST00000355058.3	-	13	2091	c.1813G>A	c.(1813-1815)Gag>Aag	p.E605K	NUMB_ENST00000359560.3_Missense_Mutation_p.E594K|NUMB_ENST00000454166.4_Missense_Mutation_p.E459K|RP4-647C14.3_ENST00000556578.1_RNA|NUMB_ENST00000535282.1_Missense_Mutation_p.E594K|NUMB_ENST00000559312.1_Missense_Mutation_p.E410K|NUMB_ENST00000560335.1_Missense_Mutation_p.E459K|NUMB_ENST00000555738.2_Missense_Mutation_p.E448K|NUMB_ENST00000356296.4_Missense_Mutation_p.E557K|NUMB_ENST00000554521.2_Missense_Mutation_p.E399K|NUMB_ENST00000555394.1_Missense_Mutation_p.E557K|NUMB_ENST00000556772.1_Missense_Mutation_p.E461K|NUMB_ENST00000544991.3_Missense_Mutation_p.E410K|NUMB_ENST00000557597.1_Missense_Mutation_p.E594K|NUMB_ENST00000554546.1_Missense_Mutation_p.E546K|NUMB_ENST00000555238.1_Missense_Mutation_p.E605K			P49757	NUMB_HUMAN	numb homolog (Drosophila)	605					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|lateral ventricle development (GO:0021670)|lung epithelial cell differentiation (GO:0060487)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of protein localization to plasma membrane (GO:1903077)|neuroblast division in subventricular zone (GO:0021849)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration (GO:0030335)|positive regulation of neurogenesis (GO:0050769)|positive regulation of polarized epithelial cell differentiation (GO:0030862)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		GTAGGAACCTCTGTATGCCTG	0.532																																						dbGAP											0													76.0	69.0	71.0					14																	73743429		2203	4300	6503	-	-	-	SO:0001583	missense	0			L40393	CCDS9814.1, CCDS32115.1, CCDS32116.1, CCDS55927.1	14q24.3	2011-11-25	2001-11-28			ENSG00000133961			8060	protein-coding gene	gene with protein product		603728	"""numb (Drosophila) homolog"", ""chromosome 14 open reading frame 41"""	C14orf41			Standard	NM_003744		Approved		uc001xny.1	P49757		ENST00000355058.3:c.1813G>A	14.37:g.73743429C>T	ENSP00000347169:p.Glu605Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B1P2N5|B1P2N6|B1P2N7|B1P2N8|B1P2N9|B4E2B1|Q6NUQ7|Q86SY1|Q8WW73|Q9UBG1|Q9UEQ4|Q9UKE8|Q9UKE9|Q9UKF0|Q9UQJ4	Missense_Mutation	SNP	pfam_Numb_domain,pfam_PTyr_interaction_dom,pfam_PTB,smart_PTyr_interaction_dom,pirsf_Numb/numb-like,pfscan_PTyr_interaction_dom	p.E605K	ENST00000355058.3	37	c.1813	CCDS32116.1	14	.	.	.	.	.	.	.	.	.	.	C	2.634	-0.285725	0.05605	.	.	ENSG00000133961	ENST00000554546;ENST00000356296;ENST00000557597;ENST00000555238;ENST00000556772;ENST00000355058;ENST00000359560;ENST00000555394;ENST00000544991;ENST00000454166;ENST00000555738;ENST00000554521;ENST00000535282	T;T;T;T;T;T;T;T;T;T;T;T;T	0.55413	0.54;0.54;0.94;0.94;1.53;0.94;0.94;0.54;0.52;0.52;0.52;0.52;0.94	5.14	4.24	0.50183	.	0.368291	0.29707	N	0.011416	T	0.32941	0.0846	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B;B;B;B	0.22276	0.067;0.0;0.0;0.0;0.0;0.057;0.057;0.008;0.019	B;B;B;B;B;B;B;B;B	0.26310	0.05;0.001;0.001;0.0;0.0;0.068;0.068;0.038;0.017	T	0.15350	-1.0440	10	0.20519	T	0.43	-5.6217	14.1821	0.65580	0.0:0.5398:0.4602:0.0	.	303;448;459;399;410;546;557;594;605	B1P2N9;B1P2N6;B1P2N5;B1P2N8;B1P2N7;P49757-4;P49757-2;P49757-3;P49757	.;.;.;.;.;.;.;.;NUMB_HUMAN	K	546;557;594;605;461;605;594;557;410;459;448;399;594	ENSP00000452416:E546K;ENSP00000348644:E557K;ENSP00000451117:E594K;ENSP00000451300:E605K;ENSP00000451513:E461K;ENSP00000347169:E605K;ENSP00000352563:E594K;ENSP00000451625:E557K;ENSP00000446001:E410K;ENSP00000394025:E459K;ENSP00000452069:E448K;ENSP00000450817:E399K;ENSP00000441258:E594K	ENSP00000347169:E605K	E	-	1	0	NUMB	72813182	0.966000	0.33281	0.650000	0.29550	0.054000	0.15201	2.397000	0.44477	1.377000	0.46286	0.561000	0.74099	GAG	NUMB	-	pirsf_Numb/numb-like	ENSG00000133961		0.532	NUMB-201	KNOWN	basic|CCDS	protein_coding	NUMB	HGNC	protein_coding	OTTHUMT00000414416.1	66	0.00	0	C			73743429	73743429	-1	no_errors	ENST00000355058	ensembl	human	known	69_37n	missense	27	57.14	36	SNP	0.047	T
NUP155	9631	genome.wustl.edu	37	5	37303458	37303458	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:37303458C>G	ENST00000231498.3	-	28	3424	c.3221G>C	c.(3220-3222)aGa>aCa	p.R1074T	NUP155_ENST00000502533.1_5'UTR|NUP155_ENST00000381843.2_Missense_Mutation_p.R1015T|NUP155_ENST00000513532.1_Missense_Mutation_p.R1010T	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	1074					atrial cardiac muscle cell action potential (GO:0086014)|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 export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|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)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)	p.R1074T(1)		endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATAACGAACTCTGTTTTGATC	0.398																																						dbGAP											1	Substitution - Missense(1)	lung(1)											98.0	91.0	93.0					5																	37303458		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"""nucleoporin 155kD"""			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.3221G>C	5.37:g.37303458C>G	ENSP00000231498:p.Arg1074Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UBE9|Q9UFL5	Missense_Mutation	SNP	pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N,superfamily_WD40_repeat_dom	p.R1074T	ENST00000231498.3	37	c.3221	CCDS3921.1	5	.	.	.	.	.	.	.	.	.	.	C	14.68	2.608257	0.46527	.	.	ENSG00000113569	ENST00000231498;ENST00000381843;ENST00000434056;ENST00000513532	T;T;T	0.76186	-0.99;-0.99;-1.0	5.71	3.37	0.38596	Nucleoporin, Nup133/Nup155-like, C-terminal (1);	0.088862	0.85682	D	0.000000	T	0.56156	0.1966	N	0.24115	0.695	0.32066	N	0.595069	B;B	0.14438	0.01;0.002	B;B	0.18263	0.016;0.021	T	0.51965	-0.8638	10	0.14656	T	0.56	-0.83	8.9212	0.35612	0.0:0.1552:0.0:0.8448	.	1010;1074	E9PF10;O75694	.;NU155_HUMAN	T	1074;1015;1036;1010	ENSP00000231498:R1074T;ENSP00000371265:R1015T;ENSP00000422019:R1010T	ENSP00000231498:R1074T	R	-	2	0	NUP155	37339215	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.800000	0.62524	0.468000	0.27243	-0.302000	0.09304	AGA	NUP155	-	pfam_Nucleoporin_Nup133/Nup155_C	ENSG00000113569		0.398	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP155	HGNC	protein_coding	OTTHUMT00000207593.2	77	0.00	0	C	NM_153485, NM_004298		37303458	37303458	-1	no_errors	ENST00000231498	ensembl	human	known	69_37n	missense	55	24.66	18	SNP	1.000	G
NUP155	9631	genome.wustl.edu	37	5	37370990	37370990	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:37370990G>A	ENST00000231498.3	-	1	293	c.90C>T	c.(88-90)atC>atT	p.I30I	NUP155_ENST00000381843.2_5'Flank|NUP155_ENST00000513532.1_Silent_p.I30I	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	30					atrial cardiac muscle cell action potential (GO:0086014)|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 export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|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)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACTGACGGTCGATGAGCCGTC	0.572																																						dbGAP											0													94.0	90.0	91.0					5																	37370990		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"""nucleoporin 155kD"""			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.90C>T	5.37:g.37370990G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UBE9|Q9UFL5	Silent	SNP	pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N,superfamily_WD40_repeat_dom	p.I30	ENST00000231498.3	37	c.90	CCDS3921.1	5																																																																																			NUP155	-	NULL	ENSG00000113569		0.572	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP155	HGNC	protein_coding	OTTHUMT00000207593.2	40	0.00	0	G	NM_153485, NM_004298		37370990	37370990	-1	no_errors	ENST00000231498	ensembl	human	known	69_37n	silent	41	14.58	7	SNP	1.000	A
NUP160	23279	genome.wustl.edu	37	11	47801924	47801924	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:47801924C>T	ENST00000378460.2	-	35	4238	c.4192G>A	c.(4192-4194)Gag>Aag	p.E1398K	NUP160_ENST00000530326.1_Intron	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	1398					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 export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						GCACTGTTCTCTCCCAGAGCT	0.463																																						dbGAP											0													129.0	119.0	122.0					11																	47801924		2201	4298	6499	-	-	-	SO:0001583	missense	0			D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"""nucleoporin 160kD"""			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.4192G>A	11.37:g.47801924C>T	ENSP00000367721:p.Glu1398Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Missense_Mutation	SNP	pfam_Nucleoporin_Nup160	p.E1398K	ENST00000378460.2	37	c.4192	CCDS31484.1	11	.	.	.	.	.	.	.	.	.	.	C	34	5.372259	0.95923	.	.	ENSG00000030066	ENST00000378460	T	0.32753	1.44	5.79	5.79	0.91817	.	0.048291	0.85682	D	0.000000	T	0.30198	0.0757	L	0.42245	1.32	0.80722	D	1	P	0.34864	0.473	B	0.35353	0.201	T	0.03139	-1.1068	10	0.16896	T	0.51	.	19.6761	0.95934	0.0:1.0:0.0:0.0	.	1398	Q12769	NU160_HUMAN	K	1398	ENSP00000367721:E1398K	ENSP00000367721:E1398K	E	-	1	0	NUP160	47758500	1.000000	0.71417	0.999000	0.59377	0.905000	0.53344	6.901000	0.75693	2.744000	0.94065	0.585000	0.79938	GAG	NUP160	-	NULL	ENSG00000030066		0.463	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP160	HGNC	protein_coding	OTTHUMT00000390239.2	124	0.00	0	C	NM_015231		47801924	47801924	-1	no_errors	ENST00000378460	ensembl	human	known	69_37n	missense	115	16.55	23	SNP	1.000	T
NUP160	23279	genome.wustl.edu	37	11	47837500	47837500	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:47837500C>T	ENST00000378460.2	-	12	1559	c.1513G>A	c.(1513-1515)Gag>Aag	p.E505K	NUP160_ENST00000528501.1_Missense_Mutation_p.E69K|NUP160_ENST00000528071.1_Missense_Mutation_p.E391K|NUP160_ENST00000531016.1_5'UTR|NUP160_ENST00000530326.1_Missense_Mutation_p.E391K	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	505					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 export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						AGCCTCACCTCATTTTCAACA	0.388																																						dbGAP											0													91.0	86.0	88.0					11																	47837500		2201	4298	6499	-	-	-	SO:0001583	missense	0			D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"""nucleoporin 160kD"""			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.1513G>A	11.37:g.47837500C>T	ENSP00000367721:p.Glu505Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Missense_Mutation	SNP	pfam_Nucleoporin_Nup160	p.E505K	ENST00000378460.2	37	c.1513	CCDS31484.1	11	.	.	.	.	.	.	.	.	.	.	C	29.6	5.021251	0.93462	.	.	ENSG00000030066	ENST00000378460;ENST00000426372;ENST00000530326;ENST00000528071;ENST00000528501	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.59032	0.2164	L	0.61036	1.89	0.80722	D	1	D	0.71674	0.998	D	0.70227	0.968	T	0.52578	-0.8557	10	0.07325	T	0.83	.	19.3204	0.94236	0.0:1.0:0.0:0.0	.	505	Q12769	NU160_HUMAN	K	505;295;391;391;69	ENSP00000367721:E505K;ENSP00000433590:E391K;ENSP00000432367:E391K;ENSP00000433964:E69K	ENSP00000367721:E505K	E	-	1	0	NUP160	47794076	1.000000	0.71417	0.998000	0.56505	0.935000	0.57460	5.230000	0.65321	2.558000	0.86282	0.591000	0.81541	GAG	NUP160	-	pfam_Nucleoporin_Nup160	ENSG00000030066		0.388	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP160	HGNC	protein_coding	OTTHUMT00000390239.2	112	0.00	0	C	NM_015231		47837500	47837500	-1	no_errors	ENST00000378460	ensembl	human	known	69_37n	missense	128	15.23	23	SNP	1.000	T
NUP188	23511	genome.wustl.edu	37	9	131743579	131743579	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:131743579G>A	ENST00000372577.2	+	15	1447	c.1426G>A	c.(1426-1428)Gaa>Aaa	p.E476K		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	476					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						TTTCTACAATGAACTTTATAA	0.423																																						dbGAP											0													194.0	196.0	195.0					9																	131743579		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.1426G>A	9.37:g.131743579G>A	ENSP00000361658:p.Glu476Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold	p.E476K	ENST00000372577.2	37	c.1426	CCDS35156.1	9	.	.	.	.	.	.	.	.	.	.	G	20.4	3.990939	0.74703	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.38077	1.16	5.1	5.1	0.69264	.	0.047788	0.85682	D	0.000000	T	0.35537	0.0935	L	0.32530	0.975	0.58432	D	0.999996	P	0.41420	0.749	B	0.42462	0.388	T	0.27262	-1.0079	10	0.87932	D	0	-14.3799	17.861	0.88781	0.0:0.0:1.0:0.0	.	476	Q5SRE5	NU188_HUMAN	K	365;476	ENSP00000361658:E476K	ENSP00000349125:E365K	E	+	1	0	NUP188	130783400	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.206000	0.77891	2.533000	0.85409	0.407000	0.27541	GAA	NUP188	-	pfam_Nucleoporin_Nup188	ENSG00000095319		0.423	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP188	HGNC	protein_coding	OTTHUMT00000054529.2	133	0.00	0	G			131743579	131743579	+1	no_errors	ENST00000372577	ensembl	human	known	69_37n	missense	181	12.14	25	SNP	1.000	A
NUP205	23165	genome.wustl.edu	37	7	135323340	135323340	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:135323340C>T	ENST00000285968.6	+	38	5327	c.5301C>T	c.(5299-5301)ctC>ctT	p.L1767L		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1767					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)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|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 membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GCCAGTCACTCATGTTACAGA	0.403																																						dbGAP											0													212.0	197.0	203.0					7																	135323340		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.5301C>T	7.37:g.135323340C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8X3|Q86YC1	Silent	SNP	pfam_DUF3414	p.L1767	ENST00000285968.6	37	c.5301	CCDS34759.1	7																																																																																			NUP205	-	NULL	ENSG00000155561		0.403	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP205	HGNC	protein_coding	OTTHUMT00000340358.1	193	0.00	0	C			135323340	135323340	+1	no_errors	ENST00000285968	ensembl	human	known	69_37n	silent	170	22.73	50	SNP	1.000	T
NUP210	23225	genome.wustl.edu	37	3	13407449	13407449	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:13407449G>A	ENST00000254508.5	-	14	2011	c.1929C>T	c.(1927-1929)ctC>ctT	p.L643L		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	643					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)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GGCTCACCTTGAGGGGCAGGT	0.572																																						dbGAP											0													110.0	103.0	106.0					3																	13407449		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.1929C>T	3.37:g.13407449G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Silent	SNP	pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2	p.L643	ENST00000254508.5	37	c.1929	CCDS33704.1	3																																																																																			NUP210	-	NULL	ENSG00000132182		0.572	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NUP210	HGNC	protein_coding	OTTHUMT00000340085.1	61	0.00	0	G	NM_024923		13407449	13407449	-1	no_errors	ENST00000254508	ensembl	human	known	69_37n	silent	54	28.00	21	SNP	1.000	A
NUP210	23225	genome.wustl.edu	37	3	13429821	13429821	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:13429821G>A	ENST00000254508.5	-	5	748	c.666C>T	c.(664-666)atC>atT	p.I222I		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	222					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)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CAGCCTCCTGGATGCGAGCCT	0.587																																						dbGAP											0													86.0	83.0	84.0					3																	13429821		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.666C>T	3.37:g.13429821G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Silent	SNP	pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2	p.I222	ENST00000254508.5	37	c.666	CCDS33704.1	3																																																																																			NUP210	-	NULL	ENSG00000132182		0.587	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NUP210	HGNC	protein_coding	OTTHUMT00000340085.1	48	0.00	0	G	NM_024923		13429821	13429821	-1	no_errors	ENST00000254508	ensembl	human	known	69_37n	silent	47	11.32	6	SNP	0.999	A
NUP214	8021	genome.wustl.edu	37	9	134053765	134053765	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:134053765G>C	ENST00000359428.5	+	24	3531	c.3387G>C	c.(3385-3387)aaG>aaC	p.K1129N	NUP214_ENST00000451030.1_Missense_Mutation_p.K1130N|NUP214_ENST00000411637.2_Missense_Mutation_p.K1119N			P35658	NU214_HUMAN	nucleoporin 214kDa	1129	11 X 5 AA approximate repeats.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		AGGAATTGAAGAATAACCCTG	0.463			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""						OREG0019558	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(4;24 48 25510 30394 32571)	dbGAP		Dom	yes		9	9q34.1	8021	nucleoporin 214kDa (CAN)		L	0													118.0	101.0	107.0					9																	134053765		2203	4300	6503	-	-	-	SO:0001583	missense	0			X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.3387G>C	9.37:g.134053765G>C	ENSP00000352400:p.Lys1129Asn	Somatic	1607	WXS	Illumina GAIIx	Phase_IV	A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	smart_WD40_repeat	p.K1130N	ENST00000359428.5	37	c.3390	CCDS6940.1	9	.	.	.	.	.	.	.	.	.	.	G	20.1	3.936316	0.73442	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000540899;ENST00000438605	T;T;T	0.45668	0.9;0.89;0.9	5.92	2.58	0.30949	.	0.315665	0.22758	N	0.055993	T	0.39627	0.1085	N	0.08118	0	0.45867	D	0.998726	D;D;D;D	0.76494	0.999;0.977;0.977;0.977	D;P;P;P	0.71414	0.973;0.787;0.73;0.73	T	0.39981	-0.9587	10	0.66056	D	0.02	-8.8504	9.7201	0.40297	0.1482:0.1211:0.7307:0.0	.	1118;723;1119;1129	P35658-2;Q5JUP9;P35658-4;P35658	.;.;.;NU214_HUMAN	N	1129;1119;1130;1118;723;558	ENSP00000352400:K1129N;ENSP00000396576:K1119N;ENSP00000405014:K1130N	ENSP00000352400:K1129N	K	+	3	2	NUP214	133043586	1.000000	0.71417	0.984000	0.44739	0.962000	0.63368	2.326000	0.43849	0.802000	0.34089	0.561000	0.74099	AAG	NUP214	-	NULL	ENSG00000126883		0.463	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NUP214	HGNC	protein_coding	OTTHUMT00000054694.2	78	0.00	0	G	NM_005085		134053765	134053765	+1	no_errors	ENST00000451030	ensembl	human	known	69_37n	missense	62	39.81	41	SNP	0.995	C
NUP214	8021	genome.wustl.edu	37	9	134072842	134072842	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:134072842C>A	ENST00000359428.5	+	29	4105	c.3961C>A	c.(3961-3963)Ctg>Atg	p.L1321M	NUP214_ENST00000465486.2_3'UTR|NUP214_ENST00000451030.1_Missense_Mutation_p.L1322M|NUP214_ENST00000411637.2_Missense_Mutation_p.L1311M|NUP214_ENST00000483497.2_Missense_Mutation_p.L147M			P35658	NU214_HUMAN	nucleoporin 214kDa	1321	11 X 5 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		GGGAGAGCTTCTGTTTCCAAG	0.517			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)	dbGAP		Dom	yes		9	9q34.1	8021	nucleoporin 214kDa (CAN)		L	0													134.0	129.0	130.0					9																	134072842		2203	4300	6503	-	-	-	SO:0001583	missense	0			X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.3961C>A	9.37:g.134072842C>A	ENSP00000352400:p.Leu1321Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	smart_WD40_repeat	p.L1322M	ENST00000359428.5	37	c.3964	CCDS6940.1	9	.	.	.	.	.	.	.	.	.	.	C	22.5	4.298826	0.81025	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000540899;ENST00000438605;ENST00000483497;ENST00000531600;ENST00000541688	T;T;T;T;T	0.62941	1.15;1.16;1.16;0.61;-0.01	5.64	4.75	0.60458	.	0.000000	0.35235	N	0.003351	T	0.59128	0.2171	N	0.08118	0	0.38487	D	0.947861	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.79108	0.989;0.992;0.984;0.984;0.984	T	0.65578	-0.6134	10	0.46703	T	0.11	-13.5993	10.3476	0.43916	0.0:0.8416:0.0:0.1584	.	147;750;915;1311;1321	B7ZAV2;F5H131;Q5JUP9;P35658-4;P35658	.;.;.;.;NU214_HUMAN	M	1321;1311;1322;1300;915;750;147;98;98	ENSP00000352400:L1321M;ENSP00000396576:L1311M;ENSP00000405014:L1322M;ENSP00000436793:L147M;ENSP00000435364:L98M	ENSP00000352400:L1321M	L	+	1	2	NUP214	133062663	0.992000	0.36948	0.965000	0.40720	0.980000	0.70556	2.948000	0.49066	1.394000	0.46624	0.655000	0.94253	CTG	NUP214	-	NULL	ENSG00000126883		0.517	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NUP214	HGNC	protein_coding	OTTHUMT00000054694.2	98	0.00	0	C	NM_005085		134072842	134072842	+1	no_errors	ENST00000451030	ensembl	human	known	69_37n	missense	109	21.58	30	SNP	0.996	A
NUP43	348995	genome.wustl.edu	37	6	150067514	150067514	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:150067514C>A	ENST00000340413.2	-	1	194	c.118G>T	c.(118-120)Gag>Tag	p.E40*	NUP43_ENST00000460354.2_Nonsense_Mutation_p.E40*|NUP43_ENST00000367404.4_Nonsense_Mutation_p.E40*|NUP43_ENST00000367403.3_Nonsense_Mutation_p.E101*|NUP43_ENST00000463048.3_Intron	NM_198887.1	NP_942590.1	Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa	40					carbohydrate metabolic process (GO:0005975)|chromosome segregation (GO:0007059)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|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)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)		GGCGATACCTCATTGTCCCAA	0.597											OREG0017720	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													103.0	108.0	106.0					6																	150067514		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF514997	CCDS5218.1	6q25.1	2013-01-10			ENSG00000120253	ENSG00000120253		"""WD repeat domain containing"""	21182	protein-coding gene	gene with protein product		608141				12196509	Standard	XM_005266961		Approved	bA350J20.1, FLJ13287	uc003qmz.3	Q8NFH3	OTTHUMG00000015795	ENST00000340413.2:c.118G>T	6.37:g.150067514C>A	ENSP00000342262:p.Glu40*	Somatic	1729	WXS	Illumina GAIIx	Phase_IV	B4E2F0|Q9H8S0	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E40*	ENST00000340413.2	37	c.118	CCDS5218.1	6	.	.	.	.	.	.	.	.	.	.	C	37	6.438146	0.97568	.	.	ENSG00000120253	ENST00000340413;ENST00000460354;ENST00000367403;ENST00000367404;ENST00000543637	.	.	.	5.46	5.46	0.80206	.	0.044546	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-21.1732	19.4836	0.95020	0.0:1.0:0.0:0.0	.	.	.	.	X	40;40;101;40;40	.	ENSP00000342262:E40X	E	-	1	0	NUP43	150109207	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	7.017000	0.76399	2.843000	0.97960	0.655000	0.94253	GAG	NUP43	-	superfamily_WD40_repeat_dom	ENSG00000120253		0.597	NUP43-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP43	HGNC	protein_coding	OTTHUMT00000396947.1	52	0.00	0	C	NM_198887		150067514	150067514	-1	no_errors	ENST00000340413	ensembl	human	known	69_37n	nonsense	34	20.93	9	SNP	1.000	A
NUP98	4928	genome.wustl.edu	37	11	3700891	3700891	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:3700891C>T	ENST00000324932.7	-	31	5386	c.4966G>A	c.(4966-4968)Gac>Aac	p.D1656N	NUP98_ENST00000355260.3_Missense_Mutation_p.D1582N|NUP98_ENST00000359171.4_Missense_Mutation_p.D1582N	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1673					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		GGTGCCAGGTCTTCCAAGAAC	0.438			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																	dbGAP		Dom	yes		11	11p15	4928	nucleoporin 98kDa		L	0													77.0	70.0	72.0					11																	3700891		2201	4298	6499	-	-	-	SO:0001583	missense	0			AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.4966G>A	11.37:g.3700891C>T	ENSP00000316032:p.Asp1656Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	pfam_Nup96,pfam_Peptidase_S59,superfamily_Peptidase_S59	p.D1656N	ENST00000324932.7	37	c.4966	CCDS7746.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.300290|5.300290	0.95574|0.95574	.|.	.|.	ENSG00000110713|ENSG00000110713	ENST00000324932;ENST00000359171;ENST00000355260|ENST00000429801	.|.	.|.	.|.	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	0.056073|.	0.64402|.	D|.	0.000001|.	T|T	0.65228|0.65228	0.2671|0.2671	L|L	0.46157|0.46157	1.445|1.445	0.35011|0.35011	D|D	0.756885|0.756885	D;D;P|.	0.62365|.	0.981;0.991;0.949|.	P;P;P|.	0.59703|.	0.798;0.862;0.6|.	T|T	0.67787|0.67787	-0.5580|-0.5580	9|5	0.18710|.	T|.	0.47|.	-19.7739|-19.7739	18.9866|18.9866	0.92773|0.92773	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1582;1656;1570|.	P52948-2;P52948-5;P52948-6|.	.;.;.|.	N|K	1656;1582;1582|608	.|.	ENSP00000316032:D1656N|.	D|R	-|-	1|2	0|0	NUP98|NUP98	3657467|3657467	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	5.863000|5.863000	0.69568|0.69568	2.805000|2.805000	0.96524|0.96524	0.460000|0.460000	0.39030|0.39030	GAC|AGA	NUP98	-	NULL	ENSG00000110713		0.438	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP98	HGNC	protein_coding	OTTHUMT00000032766.3	61	0.00	0	C	NM_016320		3700891	3700891	-1	no_errors	ENST00000324932	ensembl	human	known	69_37n	missense	56	13.85	9	SNP	1.000	T
NUP98	4928	genome.wustl.edu	37	11	3774602	3774602	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:3774602C>T	ENST00000324932.7	-	11	1631	c.1211G>A	c.(1210-1212)gGa>gAa	p.G404E	NUP98_ENST00000355260.3_Missense_Mutation_p.G404E|NUP98_ENST00000397004.4_Missense_Mutation_p.G404E|NUP98_ENST00000359171.4_Missense_Mutation_p.G404E|NUP98_ENST00000397007.4_Missense_Mutation_p.G421E	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	421	FG repeats 2.|Gly/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		TGGTTTACTTCCAAAAATACT	0.413			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																	dbGAP		Dom	yes		11	11p15	4928	nucleoporin 98kDa		L	0													84.0	84.0	84.0					11																	3774602		2201	4298	6499	-	-	-	SO:0001583	missense	0			AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.1211G>A	11.37:g.3774602C>T	ENSP00000316032:p.Gly404Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Nonsense_Mutation	SNP	NULL	p.W23*	ENST00000324932.7	37	c.69	CCDS7746.1	11	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	25.6|25.6|25.6	4.653187|4.653187|4.653187	0.88056|0.88056|0.88056	.|.|.	.|.|.	ENSG00000110713|ENSG00000110713|ENSG00000110713	ENST00000529379|ENST00000324932;ENST00000359171;ENST00000355260;ENST00000397004;ENST00000397007|ENST00000527104	.|.|.	.|.|.	.|.|.	5.34|5.34|5.34	5.34|5.34|5.34	0.76211|0.76211|0.76211	.|.|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	D|D|.	0.86251|0.86251|.	0.5888|0.5888|.	M|M|M	0.92459|0.92459|0.92459	3.31|3.31|3.31	0.80722|0.80722|0.80722	D|D|D	1|1|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|.	D|D|.	0.89566|0.89566|.	0.3810|0.3810|.	5|9|.	.|0.59425|.	.|D|.	.|0.04|.	.|.|.	18.0268|18.0268|18.0268	0.89271|0.89271|0.89271	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|421;404;404;404|.	.|P52948-3;P52948-4;P52948-2;P52948-5|.	.|.;.;.;.|.	K|E|X	53|404;404;404;404;421|23	.|.|.	.|ENSP00000316032:G404E|.	E|G|W	-|-|-	1|2|3	0|0|0	NUP98|NUP98|NUP98	3731178|3731178|3731178	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.998000|0.998000|0.998000	0.95712|0.95712|0.95712	6.189000|6.189000|6.189000	0.72051|0.72051|0.72051	2.500000|2.500000|2.500000	0.84329|0.84329|0.84329	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAA|GGA|TGG	NUP98	-	NULL	ENSG00000110713		0.413	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP98	HGNC	protein_coding	OTTHUMT00000032766.3	68	0.00	0	C	NM_016320		3774602	3774602	-1	no_start_codon:pseudogene:no_stop_codon	ENST00000527104	ensembl	human	novel	69_37n	nonsense	78	14.29	13	SNP	1.000	T
NXF1	10482	genome.wustl.edu	37	11	62569075	62569075	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:62569075G>C	ENST00000532297.1	-	8	1297	c.668C>G	c.(667-669)tCc>tGc	p.S223C	NXF1_ENST00000294172.2_Missense_Mutation_p.S223C|NXF1_ENST00000531131.1_Missense_Mutation_p.S86C|NXF1_ENST00000439713.2_Missense_Mutation_p.S223C|NXF1_ENST00000531709.2_Missense_Mutation_p.S223C			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	223					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear inclusion body (GO:0042405)|nuclear pore (GO:0005643)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGCTTGTTGGGAGCCATCGTA	0.512																																						dbGAP											0													165.0	164.0	164.0					11																	62569075		2201	4299	6500	-	-	-	SO:0001583	missense	0			AF112880	CCDS8037.1, CCDS44629.1	11q12-q13	2008-07-21			ENSG00000162231	ENSG00000162231			8071	protein-coding gene	gene with protein product	"""tip associating protein"""	602647				9175835, 9660949	Standard	NM_001081491		Approved	TAP, Mex67, DKFZp667O0311	uc001nvf.1	Q9UBU9	OTTHUMG00000167612	ENST00000532297.1:c.668C>G	11.37:g.62569075G>C	ENSP00000436679:p.Ser223Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E269|Q99799|Q9UQL2	Missense_Mutation	SNP	pfam_Tap_RNA-bd,pfam_NTF2,pfam_TAP_C_dom,pfam_Leu-rich_rpt,superfamily_UBA-like,smart_TAP_C_dom,pfscan_Nuclear_transport_factor_2_euk	p.S223C	ENST00000532297.1	37	c.668	CCDS8037.1	11	.	.	.	.	.	.	.	.	.	.	G	16.74	3.205899	0.58234	.	.	ENSG00000162231	ENST00000294172;ENST00000532297;ENST00000530875;ENST00000439713	T;T;T;T	0.56444	0.46;0.46;0.46;0.46	5.46	4.54	0.55810	.	0.167085	0.53938	D	0.000042	T	0.58779	0.2146	M	0.78916	2.43	0.49798	D	0.999828	B;B;D;D	0.56035	0.432;0.186;0.974;0.958	B;B;P;B	0.45681	0.165;0.076;0.49;0.364	T	0.66122	-0.6002	10	0.62326	D	0.03	-15.4675	13.6075	0.62056	0.0:0.0:0.8443:0.1557	.	86;266;236;223	B4E227;E9PIN3;Q59E96;Q9UBU9	.;.;.;NXF1_HUMAN	C	223;223;266;223	ENSP00000294172:S223C;ENSP00000436679:S223C;ENSP00000435742:S266C;ENSP00000408864:S223C	ENSP00000294172:S223C	S	-	2	0	NXF1	62325651	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.690000	0.68241	1.287000	0.44583	0.655000	0.94253	TCC	NXF1	-	NULL	ENSG00000162231		0.512	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXF1	HGNC	protein_coding	OTTHUMT00000395365.2	213	0.00	0	G	NM_006362		62569075	62569075	-1	no_errors	ENST00000294172	ensembl	human	known	69_37n	missense	251	14.63	43	SNP	1.000	C
NXF5	55998	genome.wustl.edu	37	X	101096072	101096072	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:101096072C>G	ENST00000361708.2	-	8	755	c.396G>C	c.(394-396)ttG>ttC	p.L132F	NXF5_ENST00000473265.2_Missense_Mutation_p.L132F|NXF5_ENST00000537026.1_Missense_Mutation_p.L132F			Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	132					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						CACGGCCCATCAAGTCTTGAA	0.517																																						dbGAP											0													28.0	27.0	27.0					X																	101096072		1679	3392	5071	-	-	-	SO:0001583	missense	0			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.396G>C	X.37:g.101096072C>G	ENSP00000355286:p.Leu132Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRM0|B1AV82|B1AV83|B1AV84|B1AV85|Q9H1B0|Q9H1B1|Q9H1B2|Q9H1B3	Missense_Mutation	SNP	pfam_Tap_RNA-bd	p.L132F	ENST00000361708.2	37	c.396		X	.	.	.	.	.	.	.	.	.	.	.	11.95	1.792449	0.31685	.	.	ENSG00000126952	ENST00000537026;ENST00000473265;ENST00000361708	T;T;T	0.59083	0.29;0.29;0.29	2.05	1.11	0.20524	.	0.000000	0.64402	U	0.000017	T	0.48677	0.1513	M	0.73217	2.22	0.43149	D	0.994912	P	0.48764	0.915	B	0.39935	0.314	T	0.48456	-0.9034	10	0.72032	D	0.01	.	4.6854	0.12755	0.0:0.7985:0.0:0.2015	.	132	A2RRM0	.	F	132	ENSP00000442401:L132F;ENSP00000426978:L132F;ENSP00000355286:L132F	ENSP00000263032:L132F	L	-	3	2	NXF5	100982728	0.869000	0.29996	0.047000	0.18901	0.024000	0.10985	0.552000	0.23376	0.321000	0.23259	0.267000	0.19312	TTG	NXF5	-	NULL	ENSG00000126952		0.517	NXF5-201	KNOWN	basic	protein_coding	NXF5	HGNC	protein_coding		108	0.00	0	C			101096072	101096072	-1	no_errors	ENST00000263032	ensembl	human	known	69_37n	missense	105	23.36	32	SNP	0.995	G
NXF4	55999	genome.wustl.edu	37	X	101818177	101818177	+	RNA	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:101818177G>C	ENST00000360035.2	+	0	767					NR_002216.1				nuclear RNA export factor 4 pseudogene											endometrium(2)|lung(8)	10						GCAAGCTCTTGATCTCCAGAG	0.532																																						dbGAP											0																																										-	-	-			0			AK124700		Xq22	2005-01-24			ENSG00000196970	ENSG00000196970			8074	pseudogene	pseudogene		300318	"""nuclear RNA export factor 4"""			11566096	Standard	NR_002216		Approved		uc004ejf.1		OTTHUMG00000039695		X.37:g.101818177G>C		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000360035.2	37	NULL		X																																																																																			NXF4	-	-	ENSG00000196970		0.532	NXF4-001	KNOWN	basic	processed_transcript	NXF4	HGNC	pseudogene	OTTHUMT00000095720.1	173	0.00	0	G			101818177	101818177	+1	no_errors	ENST00000360035	ensembl	human	known	69_37n	rna	112	17.04	23	SNP	0.423	C
NXN	64359	genome.wustl.edu	37	17	729215	729215	+	Missense_Mutation	SNP	C	C	T	rs371999469		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:729215C>T	ENST00000336868.3	-	2	555	c.464G>A	c.(463-465)cGa>cAa	p.R155Q	NXN_ENST00000537628.2_5'UTR|NXN_ENST00000577098.1_5'UTR|NXN_ENST00000575801.1_Missense_Mutation_p.R47Q	NM_022463.4	NP_071908.2	Q6DKJ4	NXN_HUMAN	nucleoredoxin	155					cardiovascular system development (GO:0072358)|cell differentiation (GO:0030154)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein-disulfide reductase activity (GO:0047134)|thioredoxin-disulfide reductase activity (GO:0004791)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		TGGGTCATCTCGGATCACCAG	0.522																																						dbGAP											0													134.0	110.0	118.0					17																	729215		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS10998.1, CCDS56013.1	17p13	2007-08-10			ENSG00000167693	ENSG00000167693			18008	protein-coding gene	gene with protein product		612895					Standard	NM_022463		Approved	FLJ12614, NRX	uc002fsa.3	Q6DKJ4	OTTHUMG00000090307	ENST00000336868.3:c.464G>A	17.37:g.729215C>T	ENSP00000337443:p.Arg155Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DXQ0|D3DTH2|Q3SWW6|Q6P3U6|Q7L4C6|Q9H9Q1	Missense_Mutation	SNP	pfam_AhpC/TSA,pfam_Redoxin,superfamily_Thioredoxin-like_fold	p.R155Q	ENST00000336868.3	37	c.464	CCDS10998.1	17	.	.	.	.	.	.	.	.	.	.	C	17.99	3.523526	0.64747	.	.	ENSG00000167693	ENST00000336868;ENST00000537628	T	0.80123	-1.34	6.07	6.07	0.98685	Thioredoxin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.83603	0.5290	L	0.29908	0.895	0.80722	D	1	P;D;D	0.76494	0.725;0.999;0.998	B;D;D	0.77557	0.116;0.99;0.945	T	0.76796	-0.2827	10	0.10902	T	0.67	-6.2001	19.6321	0.95713	0.0:1.0:0.0:0.0	.	47;42;155	B4DXQ0;Q6DKJ4-2;Q6DKJ4	.;.;NXN_HUMAN	Q	155;47	ENSP00000337443:R155Q	ENSP00000337443:R155Q	R	-	2	0	NXN	675965	1.000000	0.71417	0.981000	0.43875	0.880000	0.50808	5.948000	0.70249	2.884000	0.98904	0.655000	0.94253	CGA	NXN	-	NULL	ENSG00000167693		0.522	NXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXN	HGNC	protein_coding	OTTHUMT00000206669.1	82	0.00	0	C			729215	729215	-1	no_errors	ENST00000336868	ensembl	human	known	69_37n	missense	93	17.70	20	SNP	1.000	T
NXNL1	115861	genome.wustl.edu	37	19	17571358	17571358	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:17571358C>G	ENST00000301944.2	-	1	405	c.321G>C	c.(319-321)ctG>ctC	p.L107L	CTD-2521M24.10_ENST00000594663.1_Silent_p.L14L	NM_138454.1	NP_612463.1	Q96CM4	NXNL1_HUMAN	nucleoredoxin-like 1	107	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				photoreceptor cell maintenance (GO:0045494)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	6						cTCACCTCCTCAGATCATCCT	0.562																																						dbGAP											0													66.0	50.0	56.0					19																	17571358		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC014127	CCDS12360.1	19p13.11	2014-05-21	2007-08-16	2007-08-16	ENSG00000171773	ENSG00000171773			25179	protein-coding gene	gene with protein product		608791	"""thioredoxin-like 6"""	TXNL6		12477932	Standard	NM_138454		Approved	RDCVF	uc002ngs.3	Q96CM4	OTTHUMG00000182798	ENST00000301944.2:c.321G>C	19.37:g.17571358C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q0QD37	Silent	SNP	superfamily_Thioredoxin-like_fold	p.L107	ENST00000301944.2	37	c.321	CCDS12360.1	19																																																																																			NXNL1	-	superfamily_Thioredoxin-like_fold	ENSG00000171773		0.562	NXNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXNL1	HGNC	protein_coding	OTTHUMT00000463803.1	50	0.00	0	C	NM_138454		17571358	17571358	-1	no_errors	ENST00000301944	ensembl	human	known	69_37n	silent	37	30.19	16	SNP	0.999	G
NXPE3	91775	genome.wustl.edu	37	3	101535801	101535801	+	Nonsense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:101535801C>G	ENST00000491511.2	+	7	2041	c.1085C>G	c.(1084-1086)tCa>tGa	p.S362*	NXPE3_ENST00000273347.5_Nonsense_Mutation_p.S362*|NXPE3_ENST00000422132.1_Nonsense_Mutation_p.S362*|NXPE3_ENST00000477909.1_Nonsense_Mutation_p.S362*	NM_001134456.1	NP_001127928.1	Q969Y0	NXPE3_HUMAN	neurexophilin and PC-esterase domain family, member 3	362						extracellular region (GO:0005576)											TTTGGTGACTCAACAATCAGG	0.408																																						dbGAP											0													223.0	218.0	220.0					3																	101535801		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK054664	CCDS2945.1	3q12.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000144815	ENSG00000144815			28238	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member C"""	FAM55C		12975309	Standard	NM_001134456		Approved	MGC15606	uc003dvn.3	Q969Y0	OTTHUMG00000159179	ENST00000491511.2:c.1085C>G	3.37:g.101535801C>G	ENSP00000417485:p.Ser362*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0X4|D3DN53|Q7Z2S8	Nonsense_Mutation	SNP	superfamily_Ig_E-set	p.S362*	ENST00000491511.2	37	c.1085	CCDS2945.1	3	.	.	.	.	.	.	.	.	.	.	C	46	12.660657	0.99686	.	.	ENSG00000144815	ENST00000273347;ENST00000491511;ENST00000477909;ENST00000422132	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-13.8154	20.5827	0.99408	0.0:1.0:0.0:0.0	.	.	.	.	X	362	.	ENSP00000273347:S362X	S	+	2	0	FAM55C	103018491	1.000000	0.71417	0.995000	0.50966	0.984000	0.73092	7.744000	0.85034	2.941000	0.99782	0.655000	0.94253	TCA	NXPE3	-	NULL	ENSG00000144815		0.408	NXPE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXPE3	HGNC	protein_coding	OTTHUMT00000353711.2	137	0.00	0	C	NM_145037		101535801	101535801	+1	no_errors	ENST00000273347	ensembl	human	known	69_37n	nonsense	130	18.24	29	SNP	1.000	G
NYNRIN	57523	genome.wustl.edu	37	14	24885065	24885065	+	Silent	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:24885065C>A	ENST00000382554.3	+	9	4428	c.4110C>A	c.(4108-4110)ctC>ctA	p.L1370L		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1370					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AGTCCCCACTCCCAGTGGTTT	0.642																																						dbGAP											0													66.0	69.0	68.0					14																	24885065		1939	4149	6088	-	-	-	SO:0001819	synonymous_variant	0			AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.4110C>A	14.37:g.24885065C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P153|Q86TR3|Q9HAC4	Silent	SNP	pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core	p.L1370	ENST00000382554.3	37	c.4110	CCDS45090.1	14																																																																																			NYNRIN	-	superfamily_RNaseH-like_dom	ENSG00000205978		0.642	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NYNRIN	HGNC	protein_coding	OTTHUMT00000412939.1	59	0.00	0	C			24885065	24885065	+1	no_errors	ENST00000382554	ensembl	human	known	69_37n	silent	54	29.87	23	SNP	0.013	A
OAS2	4939	genome.wustl.edu	37	12	113416472	113416472	+	Missense_Mutation	SNP	T	T	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:113416472T>C	ENST00000342315.4	+	1	273	c.59T>C	c.(58-60)aTc>aCc	p.I20T	OAS2_ENST00000449768.2_Missense_Mutation_p.I20T|OAS2_ENST00000392583.2_Missense_Mutation_p.I20T|RP1-71H24.1_ENST00000552784.1_RNA	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	20	OAS domain 1.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GGTTGGTTTATCCAGGAATAC	0.552																																					Pancreas(199;709 2232 18410 33584 35052)	dbGAP											0													113.0	93.0	100.0					12																	113416472		2203	4300	6503	-	-	-	SO:0001583	missense	0			M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"""2'-5'-oligoadenylate synthetase 2 (69-71 kD)"""			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.59T>C	12.37:g.113416472T>C	ENSP00000342278:p.Ile20Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9T1|Q6PJ33|Q86XX8	Missense_Mutation	SNP	pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N	p.I20T	ENST00000342315.4	37	c.59	CCDS31906.1	12	.	.	.	.	.	.	.	.	.	.	T	14.05	2.420816	0.42918	.	.	ENSG00000111335	ENST00000342315;ENST00000392583;ENST00000449768;ENST00000552756	T;T;T;T	0.11821	2.74;2.74;2.74;2.74	3.47	2.3	0.28687	.	11.905900	0.00166	N	0.000000	T	0.41213	0.1149	M	0.84773	2.715	0.09310	N	1	P;P;D	0.76494	0.9;0.925;0.999	P;P;D	0.67382	0.498;0.621;0.951	T	0.01242	-1.1408	10	0.87932	D	0	-33.5698	5.6854	0.17801	0.0:0.129:0.0:0.871	.	20;20;20	P29728;P29728-2;Q6PJ33	OAS2_HUMAN;.;.	T	20	ENSP00000342278:I20T;ENSP00000376362:I20T;ENSP00000411763:I20T;ENSP00000446977:I20T	ENSP00000342278:I20T	I	+	2	0	OAS2	111900855	0.004000	0.15560	0.005000	0.12908	0.013000	0.08279	1.693000	0.37742	0.533000	0.28675	0.533000	0.62120	ATC	OAS2	-	NULL	ENSG00000111335		0.552	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OAS2	HGNC	protein_coding	OTTHUMT00000405937.1	69	0.00	0	T			113416472	113416472	+1	no_errors	ENST00000342315	ensembl	human	known	69_37n	missense	65	15.58	12	SNP	0.024	C
OAS2	4939	genome.wustl.edu	37	12	113433195	113433195	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:113433195C>T	ENST00000342315.4	+	3	757	c.543C>T	c.(541-543)ttC>ttT	p.F181F	OAS2_ENST00000392583.2_Silent_p.F181F|RP1-71H24.1_ENST00000552784.1_RNA	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	181	OAS domain 1.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CAGTCTGCTTCACTGAACTCC	0.433																																					Pancreas(199;709 2232 18410 33584 35052)	dbGAP											0													101.0	96.0	98.0					12																	113433195		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"""2'-5'-oligoadenylate synthetase 2 (69-71 kD)"""			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.543C>T	12.37:g.113433195C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9T1|Q6PJ33|Q86XX8	Silent	SNP	pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N	p.F181	ENST00000342315.4	37	c.543	CCDS31906.1	12																																																																																			OAS2	-	pfam_2-5-oligoAdlate_synth_1_dom2/C	ENSG00000111335		0.433	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OAS2	HGNC	protein_coding	OTTHUMT00000405937.1	64	0.00	0	C			113433195	113433195	+1	no_errors	ENST00000342315	ensembl	human	known	69_37n	silent	28	58.21	39	SNP	0.887	T
OAS2	4939	genome.wustl.edu	37	12	113433244	113433244	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:113433244G>A	ENST00000342315.4	+	3	806	c.592G>A	c.(592-594)Gat>Aat	p.D198N	OAS2_ENST00000392583.2_Missense_Mutation_p.D198N|RP1-71H24.1_ENST00000552784.1_RNA	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	198	OAS domain 1.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						AAAACTAAAGGATTTGATCCT	0.388																																					Pancreas(199;709 2232 18410 33584 35052)	dbGAP											0													89.0	86.0	87.0					12																	113433244		2203	4300	6503	-	-	-	SO:0001583	missense	0			M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"""2'-5'-oligoadenylate synthetase 2 (69-71 kD)"""			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.592G>A	12.37:g.113433244G>A	ENSP00000342278:p.Asp198Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9T1|Q6PJ33|Q86XX8	Missense_Mutation	SNP	pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N	p.D198N	ENST00000342315.4	37	c.592	CCDS31906.1	12	.	.	.	.	.	.	.	.	.	.	G	7.911	0.736519	0.15574	.	.	ENSG00000111335	ENST00000342315;ENST00000392583;ENST00000552756	T;T;T	0.40756	1.02;1.02;1.02	4.22	1.22	0.21188	-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);	2.176640	0.02601	U	0.101030	T	0.48909	0.1526	L	0.34521	1.04	0.80722	D	1	D;P	0.89917	1.0;0.75	D;B	0.75484	0.986;0.232	T	0.57894	-0.7732	10	0.18276	T	0.48	-24.0336	3.6738	0.08284	0.2176:0.0:0.5876:0.1948	.	198;198	P29728;P29728-2	OAS2_HUMAN;.	N	198;198;123	ENSP00000342278:D198N;ENSP00000376362:D198N;ENSP00000446977:D123N	ENSP00000342278:D198N	D	+	1	0	OAS2	111917627	0.908000	0.30866	0.999000	0.59377	0.747000	0.42532	0.398000	0.20899	0.399000	0.25367	0.467000	0.42956	GAT	OAS2	-	pfam_2-5-oligoAdlate_synth_1_dom2/C	ENSG00000111335		0.388	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OAS2	HGNC	protein_coding	OTTHUMT00000405937.1	38	0.00	0	G			113433244	113433244	+1	no_errors	ENST00000342315	ensembl	human	known	69_37n	missense	41	12.77	6	SNP	0.998	A
OASL	8638	genome.wustl.edu	37	12	121471506	121471506	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:121471506C>G	ENST00000257570.5	-	2	509	c.239G>C	c.(238-240)aGa>aCa	p.R80T	OASL_ENST00000339275.5_Missense_Mutation_p.R80T	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	80					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|transferase activity (GO:0016740)			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CTCCACCTCTCTGGTGCTCCT	0.587																																					Colon(192;517 2041 31392 31913 39966)	dbGAP											0													96.0	98.0	97.0					12																	121471506		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF063611	CCDS9211.1, CCDS9212.1, CCDS73536.1	12q24.2	2008-08-05			ENSG00000135114	ENSG00000135114			8090	protein-coding gene	gene with protein product		603281				10087211	Standard	NM_003733		Approved	TRIP14, p59OASL	uc001tzj.2	Q15646	OTTHUMG00000154981	ENST00000257570.5:c.239G>C	12.37:g.121471506C>G	ENSP00000257570:p.Arg80Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAZ2|I1YDD2|O75686|Q17R95|Q9Y6K6|Q9Y6K7	Missense_Mutation	SNP	pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_2-5-oligoadenylate_synth_N,pfscan_Ubiquitin_supergroup	p.R80T	ENST00000257570.5	37	c.239	CCDS9211.1	12	.	.	.	.	.	.	.	.	.	.	C	8.924	0.961705	0.18583	.	.	ENSG00000135114	ENST00000257570;ENST00000339275	T;T	0.07327	3.2;3.2	4.52	1.68	0.24146	2-5-oligoadenylate synthetase, N-terminal (1);2-5-oligoadenylate synthetase, conserved site (1);	1.518070	0.03986	N	0.294044	T	0.02455	0.0075	N	0.00368	-1.59	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.0	T	0.32481	-0.9905	10	0.36615	T	0.2	-1.5527	4.7169	0.12899	0.2131:0.2116:0.5752:0.0	.	80;80	Q15646-2;Q15646	.;OASL_HUMAN	T	80	ENSP00000257570:R80T;ENSP00000341125:R80T	ENSP00000257570:R80T	R	-	2	0	OASL	119955889	0.001000	0.12720	0.000000	0.03702	0.101000	0.19017	0.874000	0.28065	0.245000	0.21373	0.555000	0.69702	AGA	OASL	-	pfscan_2-5-oligoadenylate_synth_N	ENSG00000135114		0.587	OASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OASL	HGNC	protein_coding	OTTHUMT00000337875.2	25	0.00	0	C	NM_003733		121471506	121471506	-1	no_errors	ENST00000257570	ensembl	human	known	69_37n	missense	52	11.86	7	SNP	0.000	G
OASL	8638	genome.wustl.edu	37	12	121476654	121476654	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:121476654C>G	ENST00000257570.5	-	1	391	c.121G>C	c.(121-123)Gag>Cag	p.E41Q	OASL_ENST00000339275.5_Missense_Mutation_p.E41Q	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	41					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|transferase activity (GO:0016740)			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGAAACTCCTCCACGGTCCGC	0.622																																					Colon(192;517 2041 31392 31913 39966)	dbGAP											0													77.0	57.0	64.0					12																	121476654		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF063611	CCDS9211.1, CCDS9212.1, CCDS73536.1	12q24.2	2008-08-05			ENSG00000135114	ENSG00000135114			8090	protein-coding gene	gene with protein product		603281				10087211	Standard	NM_003733		Approved	TRIP14, p59OASL	uc001tzj.2	Q15646	OTTHUMG00000154981	ENST00000257570.5:c.121G>C	12.37:g.121476654C>G	ENSP00000257570:p.Glu41Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAZ2|I1YDD2|O75686|Q17R95|Q9Y6K6|Q9Y6K7	Missense_Mutation	SNP	pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_2-5-oligoadenylate_synth_N,pfscan_Ubiquitin_supergroup	p.E41Q	ENST00000257570.5	37	c.121	CCDS9211.1	12	.	.	.	.	.	.	.	.	.	.	C	9.353	1.065940	0.20067	.	.	ENSG00000135114	ENST00000257570;ENST00000339275;ENST00000543677	T;T	0.07688	3.17;3.17	5.66	2.57	0.30868	2-5-oligoadenylate synthetase, N-terminal (1);	0.395622	0.22908	N	0.054175	T	0.05868	0.0153	N	0.17631	0.505	0.09310	N	1	B;B	0.28378	0.126;0.209	B;B	0.27715	0.082;0.038	T	0.37934	-0.9684	10	0.22706	T	0.39	-9.2406	13.3891	0.60813	0.0:0.5591:0.4409:0.0	.	41;41	Q15646-2;Q15646	.;OASL_HUMAN	Q	41;41;33	ENSP00000257570:E41Q;ENSP00000341125:E41Q	ENSP00000257570:E41Q	E	-	1	0	OASL	119961037	0.052000	0.20516	0.948000	0.38648	0.297000	0.27493	0.347000	0.20014	1.380000	0.46344	0.655000	0.94253	GAG	OASL	-	pfscan_2-5-oligoadenylate_synth_N	ENSG00000135114		0.622	OASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OASL	HGNC	protein_coding	OTTHUMT00000337875.2	40	0.00	0	C	NM_003733		121476654	121476654	-1	no_errors	ENST00000257570	ensembl	human	known	69_37n	missense	32	38.46	20	SNP	0.127	G
OBP2B	29989	genome.wustl.edu	37	9	136081768	136081768	+	Missense_Mutation	SNP	C	C	T	rs199938593		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:136081768C>T	ENST00000372034.3	-	5	465	c.424G>A	c.(424-426)Gaa>Aaa	p.E142K	OBP2B_ENST00000461961.1_5'UTR|OBP2B_ENST00000372032.2_3'UTR	NM_014581.2	NP_055396.1	Q9NPH6	OBP2B_HUMAN	odorant binding protein 2B	142					chemosensory behavior (GO:0007635)|sensory perception of smell (GO:0007608)|transport (GO:0006810)	extracellular region (GO:0005576)	odorant binding (GO:0005549)			central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7				OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)		TTCTTAAATTCTTCCAGGGCC	0.612																																						dbGAP											0													112.0	106.0	108.0					9																	136081768		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ251026	CCDS6961.1	9q34	2014-01-22			ENSG00000171102	ENSG00000171102		"""Lipocalins"""	23381	protein-coding gene	gene with protein product		604606					Standard	NM_001288987		Approved	hOBPIIb, LCN14	uc004ccz.3	Q9NPH6	OTTHUMG00000020860	ENST00000372034.3:c.424G>A	9.37:g.136081768C>T	ENSP00000361104:p.Glu142Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VSP6|Q9NY51|Q9NY52	Missense_Mutation	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_von_Ebner_gland,prints_PstgldnD_synth	p.E142K	ENST00000372034.3	37	c.424	CCDS6961.1	9	.	.	.	.	.	.	.	.	.	.	C	17.90	3.502525	0.64298	.	.	ENSG00000171102	ENST00000372034	T	0.09073	3.02	2.38	2.38	0.29361	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	1.068980	0.07483	U	0.904335	T	0.22936	0.0554	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.52917	-0.8511	10	0.02654	T	1	-0.6432	8.3077	0.32051	0.0:1.0:0.0:0.0	.	142	Q9NPH6	OBP2B_HUMAN	K	142	ENSP00000361104:E142K	ENSP00000361104:E142K	E	-	1	0	OBP2B	135071589	0.000000	0.05858	0.168000	0.22838	0.166000	0.22503	0.240000	0.18042	1.624000	0.50355	0.557000	0.71058	GAA	OBP2B	-	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_von_Ebner_gland,prints_PstgldnD_synth	ENSG00000171102		0.612	OBP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OBP2B	HGNC	protein_coding	OTTHUMT00000054851.1	82	0.00	0	C	NM_014581		136081768	136081768	-1	no_errors	ENST00000372034	ensembl	human	known	69_37n	missense	114	13.53	18	SNP	0.796	T
OBP2A	29991	genome.wustl.edu	37	9	138438623	138438623	+	Splice_Site	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:138438623G>A	ENST00000539850.1	+	2	98		c.e2-1		OBP2A_ENST00000342114.4_Intron|OBP2A_ENST00000340780.3_Splice_Site|OBP2A_ENST00000371776.1_Splice_Site			Q9NY56	OBP2A_HUMAN	odorant binding protein 2A						response to stimulus (GO:0050896)|sensory perception of chemical stimulus (GO:0007606)|sensory perception of smell (GO:0007608)|transport (GO:0006810)	extracellular region (GO:0005576)	odorant binding (GO:0005549)			endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		GCCTGCTCCAGATCACAGGGA	0.617																																						dbGAP											0													11.0	13.0	13.0					9																	138438623		2192	4267	6459	-	-	-	SO:0001630	splice_region_variant	0			AJ251029	CCDS6992.1	9q34	2014-01-22			ENSG00000122136	ENSG00000122136		"""Lipocalins"""	23380	protein-coding gene	gene with protein product		164320					Standard	NM_014582		Approved	hOBPIIa, OBP, LCN13	uc004cgb.3	Q9NY56	OTTHUMG00000020909	ENST00000539850.1:c.73-1G>A	9.37:g.138438623G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T8A3|Q9NY50|Q9NY53|Q9NY54|Q9NY55	Splice_Site	SNP	-	e2-1	ENST00000539850.1	37	c.73-1	CCDS6992.1	9	.	.	.	.	.	.	.	.	.	.	g	7.459	0.644203	0.14451	.	.	ENSG00000122136	ENST00000340780;ENST00000371776;ENST00000539850	.	.	.	2.31	2.31	0.28768	.	.	.	.	.	.	.	.	.	.	.	0.42144	D	0.991526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.3615	0.32361	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	OBP2A	137578444	0.017000	0.18338	0.170000	0.22879	0.090000	0.18270	2.461000	0.45040	1.629000	0.50426	0.544000	0.68410	.	OBP2A	-	-	ENSG00000122136		0.617	OBP2A-006	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	OBP2A	HGNC	protein_coding	OTTHUMT00000397904.1	43	0.00	0	G	NM_014582	Intron	138438623	138438623	+1	no_errors	ENST00000340780	ensembl	human	known	69_37n	splice_site	43	38.57	27	SNP	0.233	A
OBSCN	84033	genome.wustl.edu	37	1	228463619	228463619	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:228463619G>A	ENST00000422127.1	+	21	6156	c.6112G>A	c.(6112-6114)Gag>Aag	p.E2038K	RP5-1139B12.3_ENST00000602529.1_RNA|OBSCN_ENST00000359599.6_Missense_Mutation_p.E885K|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000570156.2_Missense_Mutation_p.E2413K|RP5-1139B12.2_ENST00000602517.1_RNA|OBSCN_ENST00000366709.4_5'UTR|RP5-1139B12.3_ENST00000602947.1_RNA|OBSCN_ENST00000284548.11_Missense_Mutation_p.E2038K	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2038	Ig-like 20.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GATCCACGCCGAGGGCGCCCG	0.667																																						dbGAP											0													16.0	20.0	19.0					1																	228463619		1947	4117	6064	-	-	-	SO:0001583	missense	0			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.6112G>A	1.37:g.228463619G>A	ENSP00000409493:p.Glu2038Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.E2038K	ENST00000422127.1	37	c.6112	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	g	16.46	3.128974	0.56721	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599	T;T;T	0.67171	-0.25;-0.25;-0.25	5.52	3.64	0.41730	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.279161	0.33732	N	0.004611	T	0.72220	0.3433	L	0.55481	1.735	0.80722	D	1	B;D	0.89917	0.41;1.0	B;D	0.69479	0.012;0.964	T	0.67654	-0.5615	10	0.09843	T	0.71	.	11.4447	0.50116	0.0684:0.1261:0.8055:0.0	.	2038;2038	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	K	2038;2038;885	ENSP00000284548:E2038K;ENSP00000409493:E2038K;ENSP00000352613:E885K	ENSP00000284548:E2038K	E	+	1	0	OBSCN	226530242	1.000000	0.71417	0.026000	0.17262	0.013000	0.08279	4.525000	0.60559	0.713000	0.32060	-0.330000	0.08379	GAG	OBSCN	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000154358		0.667	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		18	0.00	0	G	NM_052843		228463619	228463619	+1	no_errors	ENST00000422127	ensembl	human	known	69_37n	missense	17	19.05	4	SNP	0.994	A
OBSCN	84033	genome.wustl.edu	37	1	228494273	228494273	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:228494273G>A	ENST00000422127.1	+	44	11904	c.11860G>A	c.(11860-11862)Gaa>Aaa	p.E3954K	OBSCN_ENST00000366707.4_Missense_Mutation_p.E1588K|OBSCN_ENST00000570156.2_Missense_Mutation_p.E4911K|OBSCN_ENST00000366709.4_Missense_Mutation_p.E1073K|OBSCN_ENST00000284548.11_Missense_Mutation_p.E3954K	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3954	Ig-like 40.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCTACAACGTGAAGACACTGG	0.642																																						dbGAP											0													34.0	38.0	36.0					1																	228494273		2074	4208	6282	-	-	-	SO:0001583	missense	0			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.11860G>A	1.37:g.228494273G>A	ENSP00000409493:p.Glu3954Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.E3954K	ENST00000422127.1	37	c.11860	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.636871	0.67130	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.05717	3.4;3.4;3.4;3.4	5.22	5.22	0.72569	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.139506	0.47093	D	0.000248	T	0.17365	0.0417	M	0.73962	2.25	0.41337	D	0.987271	D;P	0.58970	0.984;0.941	P;P	0.58130	0.833;0.748	T	0.11203	-1.0597	10	0.10111	T	0.7	.	14.0535	0.64751	0.0751:0.0:0.9249:0.0	.	3954;3954	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	K	3954;3954;1588;1073	ENSP00000284548:E3954K;ENSP00000409493:E3954K;ENSP00000355668:E1588K;ENSP00000355670:E1073K	ENSP00000284548:E3954K	E	+	1	0	OBSCN	226560896	0.957000	0.32711	0.240000	0.24138	0.006000	0.05464	1.808000	0.38912	2.453000	0.82957	0.407000	0.27541	GAA	OBSCN	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000154358		0.642	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		16	0.00	0	G	NM_052843		228494273	228494273	+1	no_errors	ENST00000422127	ensembl	human	known	69_37n	missense	12	29.41	5	SNP	0.983	A
OBSCN	84033	genome.wustl.edu	37	1	228527796	228527796	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:228527796C>T	ENST00000422127.1	+	70	17453	c.17409C>T	c.(17407-17409)ttC>ttT	p.F5803F	OBSCN_ENST00000366707.4_Silent_p.F3437F|OBSCN_ENST00000570156.2_Silent_p.F6760F|OBSCN_ENST00000366709.4_Silent_p.F2922F|OBSCN_ENST00000284548.11_Silent_p.F5803F	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5803	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCCAGGAGTTCTACAAGGTGC	0.602																																						dbGAP											0													57.0	66.0	63.0					1																	228527796		2065	4188	6253	-	-	-	SO:0001819	synonymous_variant	0			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.17409C>T	1.37:g.228527796C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.F5803	ENST00000422127.1	37	c.17409	CCDS58065.1	1																																																																																			OBSCN	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000154358		0.602	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		38	0.00	0	C	NM_052843		228527796	228527796	+1	no_errors	ENST00000422127	ensembl	human	known	69_37n	silent	55	25.68	19	SNP	1.000	T
OBSCN	84033	genome.wustl.edu	37	1	228528891	228528891	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:228528891C>T	ENST00000422127.1	+	73	17837	c.17793C>T	c.(17791-17793)atC>atT	p.I5931I	OBSCN_ENST00000366707.4_Silent_p.I3565I|OBSCN_ENST00000570156.2_Silent_p.I6888I|OBSCN_ENST00000366709.4_Silent_p.I3050I|OBSCN_ENST00000284548.11_Silent_p.I5931I	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5931	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ACCTGGTAATCTGCAAGCCCC	0.652																																						dbGAP											0													32.0	37.0	35.0					1																	228528891		2061	4195	6256	-	-	-	SO:0001819	synonymous_variant	0			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.17793C>T	1.37:g.228528891C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.I5931	ENST00000422127.1	37	c.17793	CCDS58065.1	1																																																																																			OBSCN	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000154358		0.652	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		21	0.00	0	C	NM_052843		228528891	228528891	+1	no_errors	ENST00000422127	ensembl	human	known	69_37n	silent	24	17.24	5	SNP	1.000	T
OCA2	4948	genome.wustl.edu	37	15	28171386	28171386	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:28171386G>A	ENST00000354638.3	-	19	2121	c.1966C>T	c.(1966-1968)Ctg>Ttg	p.L656L	OCA2_ENST00000353809.5_Silent_p.L632L	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	656					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		ATGGCACCCAGAATAGCAATC	0.373									Oculocutaneous Albinism																													dbGAP											0													80.0	81.0	80.0					15																	28171386		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database			CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.1966C>T	15.37:g.28171386G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q15211|Q15212|Q96EN1|Q9UMI5	Silent	SNP	pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB	p.L656	ENST00000354638.3	37	c.1966	CCDS10020.1	15																																																																																			OCA2	-	pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB	ENSG00000104044		0.373	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OCA2	HGNC	protein_coding	OTTHUMT00000250823.1	67	0.00	0	G	NM_000275		28171386	28171386	-1	no_errors	ENST00000354638	ensembl	human	known	69_37n	silent	43	17.31	9	SNP	1.000	A
OCRL	4952	genome.wustl.edu	37	X	128695189	128695189	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:128695189C>G	ENST00000371113.4	+	10	1023	c.858C>G	c.(856-858)ttC>ttG	p.F286L	OCRL_ENST00000357121.5_Missense_Mutation_p.F286L	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	286	5-phosphatase.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						CAGAAGCCTTCTTCTACTTTG	0.403																																						dbGAP											0													163.0	158.0	159.0					X																	128695189		2203	4300	6503	-	-	-	SO:0001583	missense	0			U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.858C>G	X.37:g.128695189C>G	ENSP00000360154:p.Phe286Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,pfam_RhoGAP_dom,superfamily_Endo/exonuclease/phosphatase,superfamily_Rho_GTPase_activation_prot,smart_IPPc,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.F286L	ENST00000371113.4	37	c.858	CCDS35393.1	X	.	.	.	.	.	.	.	.	.	.	C	17.40	3.380356	0.61845	.	.	ENSG00000122126	ENST00000371113;ENST00000357121	D;D	0.94931	-3.56;-3.56	5.44	3.0	0.34707	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.93628	0.7965	L	0.31526	0.94	0.58432	D	0.999995	D;P	0.89917	1.0;0.864	D;P	0.76575	0.988;0.592	D	0.90871	0.4746	10	0.35671	T	0.21	.	7.892	0.29684	0.0:0.2465:0.0:0.7535	.	286;286	Q01968-2;Q01968	.;OCRL_HUMAN	L	286	ENSP00000360154:F286L;ENSP00000349635:F286L	ENSP00000349635:F286L	F	+	3	2	OCRL	128522870	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	1.177000	0.31969	0.769000	0.33313	-0.366000	0.07423	TTC	OCRL	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc	ENSG00000122126		0.403	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	OCRL	HGNC	protein_coding	OTTHUMT00000058917.1	152	0.00	0	C	NM_000276		128695189	128695189	+1	no_errors	ENST00000371113	ensembl	human	known	69_37n	missense	93	25.00	31	SNP	1.000	G
ODF2L	57489	genome.wustl.edu	37	1	86848875	86848875	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:86848875C>G	ENST00000359242.3	-	5	658	c.377G>C	c.(376-378)gGa>gCa	p.G126A	ODF2L_ENST00000394731.1_5'UTR|ODF2L_ENST00000294678.2_Missense_Mutation_p.G126A|ODF2L_ENST00000317336.7_Missense_Mutation_p.G126A|ODF2L_ENST00000370567.1_Missense_Mutation_p.G126A|ODF2L_ENST00000370566.3_Missense_Mutation_p.G126A	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like	126						centrosome (GO:0005813)				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		TAAATTGTCTCCTGTCTGAGA	0.303																																						dbGAP											0													74.0	76.0	75.0					1																	86848875		2202	4299	6501	-	-	-	SO:0001583	missense	0				CCDS30763.1, CCDS41354.1, CCDS30763.2, CCDS41354.2, CCDS53339.1	1p22.3	2008-02-05			ENSG00000122417	ENSG00000122417			29225	protein-coding gene	gene with protein product						10574462	Standard	NM_020729		Approved	KIAA1229	uc001dll.2	Q9ULJ1	OTTHUMG00000010080	ENST00000359242.3:c.377G>C	1.37:g.86848875C>G	ENSP00000359600:p.Gly126Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MU56|B4E037|Q05C40|Q5BJG5|Q5TBX3|Q5TBX4|Q86X31	Missense_Mutation	SNP	NULL	p.G126A	ENST00000359242.3	37	c.377	CCDS41354.2	1	.	.	.	.	.	.	.	.	.	.	C	8.210	0.800083	0.16397	.	.	ENSG00000122417	ENST00000441121;ENST00000370566;ENST00000359242;ENST00000460698;ENST00000317336;ENST00000370567;ENST00000294678;ENST00000465959	T;T;T;T;T;T	0.28895	2.04;2.02;1.59;2.03;2.04;2.03	5.35	3.47	0.39725	.	1.629170	0.03049	N	0.154357	T	0.11452	0.0279	L	0.57536	1.79	0.27764	N	0.943725	P;P;B;B;B	0.42456	0.78;0.622;0.089;0.073;0.359	B;B;B;B;B	0.38500	0.275;0.164;0.046;0.079;0.108	T	0.24404	-1.0161	10	0.07325	T	0.83	-2.8293	7.6945	0.28587	0.0:0.7408:0.0:0.2592	.	126;126;126;126;126	B4E037;Q9ULJ1-2;Q9ULJ1-4;Q9ULJ1-3;Q9ULJ1	.;.;.;.;ODF2L_HUMAN	A	126;126;126;2;126;126;126;126	ENSP00000359597:G126A;ENSP00000359600:G126A;ENSP00000433092:G2A;ENSP00000320165:G126A;ENSP00000359598:G126A;ENSP00000294678:G126A	ENSP00000294678:G126A	G	-	2	0	ODF2L	86621463	0.000000	0.05858	0.009000	0.14445	0.697000	0.40408	0.331000	0.19733	0.751000	0.32900	0.650000	0.86243	GGA	ODF2L	-	NULL	ENSG00000122417		0.303	ODF2L-001	KNOWN	basic|CCDS	protein_coding	ODF2L	HGNC	protein_coding	OTTHUMT00000027873.2	86	0.00	0	C			86848875	86848875	-1	no_errors	ENST00000317336	ensembl	human	known	69_37n	missense	70	11.39	9	SNP	0.009	G
ODF2L	57489	genome.wustl.edu	37	1	86851146	86851146	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:86851146C>G	ENST00000359242.3	-	3	522	c.241G>C	c.(241-243)Gaa>Caa	p.E81Q	ODF2L_ENST00000394731.1_Intron|ODF2L_ENST00000294678.2_Missense_Mutation_p.E81Q|ODF2L_ENST00000317336.7_Missense_Mutation_p.E81Q|ODF2L_ENST00000370567.1_Missense_Mutation_p.E81Q|ODF2L_ENST00000370566.3_Missense_Mutation_p.E81Q	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like	81						centrosome (GO:0005813)				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		CTCACATTTTCAAAATTAATC	0.323																																						dbGAP											0													51.0	50.0	50.0					1																	86851146		2202	4296	6498	-	-	-	SO:0001583	missense	0				CCDS30763.1, CCDS41354.1, CCDS30763.2, CCDS41354.2, CCDS53339.1	1p22.3	2008-02-05			ENSG00000122417	ENSG00000122417			29225	protein-coding gene	gene with protein product						10574462	Standard	NM_020729		Approved	KIAA1229	uc001dll.2	Q9ULJ1	OTTHUMG00000010080	ENST00000359242.3:c.241G>C	1.37:g.86851146C>G	ENSP00000359600:p.Glu81Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MU56|B4E037|Q05C40|Q5BJG5|Q5TBX3|Q5TBX4|Q86X31	Missense_Mutation	SNP	NULL	p.E81Q	ENST00000359242.3	37	c.241	CCDS41354.2	1	.	.	.	.	.	.	.	.	.	.	C	16.14	3.039913	0.55003	.	.	ENSG00000122417	ENST00000441121;ENST00000370566;ENST00000359242;ENST00000317336;ENST00000370567;ENST00000294678;ENST00000465959	T;T;T;T;T	0.26518	1.73;1.73;1.74;1.76;1.73	5.54	3.65	0.41850	.	1.029580	0.07666	N	0.934581	T	0.18130	0.0435	L	0.29908	0.895	0.80722	D	1	B;P;B;P;D	0.58970	0.403;0.806;0.037;0.867;0.984	B;B;B;P;P	0.56788	0.159;0.284;0.05;0.544;0.806	T	0.15809	-1.0424	10	0.33141	T	0.24	-1.5676	7.6817	0.28518	0.0:0.8133:0.0:0.1867	.	81;81;81;81;81	B4E037;Q9ULJ1-2;Q9ULJ1-4;Q9ULJ1-3;Q9ULJ1	.;.;.;.;ODF2L_HUMAN	Q	81	ENSP00000359597:E81Q;ENSP00000359600:E81Q;ENSP00000320165:E81Q;ENSP00000359598:E81Q;ENSP00000294678:E81Q	ENSP00000294678:E81Q	E	-	1	0	ODF2L	86623734	0.998000	0.40836	0.992000	0.48379	0.993000	0.82548	1.353000	0.34045	1.476000	0.48215	0.650000	0.86243	GAA	ODF2L	-	NULL	ENSG00000122417		0.323	ODF2L-001	KNOWN	basic|CCDS	protein_coding	ODF2L	HGNC	protein_coding	OTTHUMT00000027873.2	114	0.00	0	C			86851146	86851146	-1	no_errors	ENST00000317336	ensembl	human	known	69_37n	missense	69	25.00	23	SNP	0.999	G
TENM3	55714	genome.wustl.edu	37	4	183651370	183651370	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:183651370G>C	ENST00000511685.1	+	15	2726	c.2603G>C	c.(2602-2604)aGa>aCa	p.R868T	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.R868T			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	868					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TCTGTCATCAGAGGCCAAGTA	0.403																																						dbGAP											0													115.0	107.0	109.0					4																	183651370		1874	4123	5997	-	-	-	SO:0001583	missense	0			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.2603G>C	4.37:g.183651370G>C	ENSP00000424226:p.Arg868Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c_dom,smart_EGF-like,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.R868T	ENST00000511685.1	37	c.2603	CCDS47165.1	4	.	.	.	.	.	.	.	.	.	.	G	21.8	4.208765	0.79240	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	T;T	0.13089	2.62;2.62	5.03	5.03	0.67393	Carboxypeptidase-like, regulatory domain (1);	.	.	.	.	T	0.38799	0.1054	M	0.75777	2.31	0.80722	D	1	D	0.57899	0.981	D	0.67231	0.95	T	0.16719	-1.0393	9	0.62326	D	0.03	.	18.5345	0.91004	0.0:0.0:1.0:0.0	.	868	Q9P273	TEN3_HUMAN	T	868	ENSP00000424226:R868T;ENSP00000385276:R868T	ENSP00000385276:R868T	R	+	2	0	ODZ3	183888364	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.652000	0.98499	2.593000	0.87608	0.655000	0.94253	AGA	ODZ3	-	superfamily_CarboxyPept-like_regulatory	ENSG00000218336		0.403	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODZ3	HGNC	protein_coding	OTTHUMT00000361734.1	88	0.00	0	G			183651370	183651370	+1	no_errors	ENST00000406950	ensembl	human	known	69_37n	missense	48	30.43	21	SNP	1.000	C
TENM3	55714	genome.wustl.edu	37	4	183658121	183658121	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:183658121G>A	ENST00000511685.1	+	17	3251	c.3128G>A	c.(3127-3129)aGa>aAa	p.R1043K	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.R1043K			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1043					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GTAGTAGGAAGACTCTTCCAA	0.383																																						dbGAP											0													129.0	122.0	124.0					4																	183658121		1829	4090	5919	-	-	-	SO:0001583	missense	0			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.3128G>A	4.37:g.183658121G>A	ENSP00000424226:p.Arg1043Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c_dom,smart_EGF-like,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.R1043K	ENST00000511685.1	37	c.3128	CCDS47165.1	4	.	.	.	.	.	.	.	.	.	.	G	16.56	3.157616	0.57368	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.86562	-2.14;-2.14	4.57	4.57	0.56435	.	.	.	.	.	D	0.90645	0.7066	L	0.53249	1.67	0.58432	D	0.999999	P	0.52842	0.956	P	0.62184	0.899	D	0.88846	0.3316	9	0.28530	T	0.3	.	17.5482	0.87869	0.0:0.0:1.0:0.0	.	1043	Q9P273	TEN3_HUMAN	K	1043	ENSP00000424226:R1043K;ENSP00000385276:R1043K	ENSP00000385276:R1043K	R	+	2	0	ODZ3	183895115	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.779000	0.85648	2.373000	0.80994	0.561000	0.74099	AGA	ODZ3	-	NULL	ENSG00000218336		0.383	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODZ3	HGNC	protein_coding	OTTHUMT00000361734.1	95	0.00	0	G			183658121	183658121	+1	no_errors	ENST00000406950	ensembl	human	known	69_37n	missense	69	24.18	22	SNP	1.000	A
TENM4	26011	genome.wustl.edu	37	11	78383083	78383083	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:78383083C>G	ENST00000278550.7	-	31	6250	c.5788G>C	c.(5788-5790)Gag>Cag	p.E1930Q		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1930					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										CCTGCCTTCTCTAAGTATGTG	0.552																																						dbGAP											0													67.0	68.0	68.0					11																	78383083		2072	4205	6277	-	-	-	SO:0001583	missense	0			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.5788G>C	11.37:g.78383083C>G	ENSP00000278550:p.Glu1930Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EGF-like,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.E1930Q	ENST00000278550.7	37	c.5788	CCDS44688.1	11	.	.	.	.	.	.	.	.	.	.	C	33	5.200700	0.94997	.	.	ENSG00000149256	ENST00000278550;ENST00000530738	D;T	0.90385	-2.66;0.81	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.94788	0.8317	M	0.66939	2.045	0.80722	D	1	D	0.69078	0.997	D	0.75484	0.986	D	0.93552	0.6887	9	.	.	.	.	19.6941	0.96016	0.0:1.0:0.0:0.0	.	1930	Q6N022	TEN4_HUMAN	Q	1930;394	ENSP00000278550:E1930Q;ENSP00000431711:E394Q	.	E	-	1	0	ODZ4	78060731	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.651000	0.83577	2.885000	0.99019	0.655000	0.94253	GAG	ODZ4	-	NULL	ENSG00000149256		0.552	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODZ4	HGNC	protein_coding	OTTHUMT00000391406.2	66	0.00	0	C			78383083	78383083	-1	no_errors	ENST00000278550	ensembl	human	known	69_37n	missense	33	51.47	35	SNP	1.000	G
TENM4	26011	genome.wustl.edu	37	11	78383155	78383155	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:78383155C>T	ENST00000278550.7	-	31	6178	c.5716G>A	c.(5716-5718)Gaa>Aaa	p.E1906K		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1906					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										TGGTCGTATTCCATTCTTTCA	0.547																																						dbGAP											0													75.0	76.0	76.0					11																	78383155		2038	4177	6215	-	-	-	SO:0001583	missense	0			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.5716G>A	11.37:g.78383155C>T	ENSP00000278550:p.Glu1906Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EGF-like,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.E1906K	ENST00000278550.7	37	c.5716	CCDS44688.1	11	.	.	.	.	.	.	.	.	.	.	C	26.8	4.769136	0.90020	.	.	ENSG00000149256	ENST00000278550;ENST00000530738	D;T	0.89810	-2.57;0.86	5.55	5.55	0.83447	.	0.053057	0.64402	D	0.000001	D	0.89825	0.6827	M	0.73598	2.24	0.80722	D	1	P	0.50443	0.935	B	0.42738	0.396	D	0.89596	0.3831	9	.	.	.	.	19.6941	0.96016	0.0:1.0:0.0:0.0	.	1906	Q6N022	TEN4_HUMAN	K	1906;370	ENSP00000278550:E1906K;ENSP00000431711:E370K	.	E	-	1	0	ODZ4	78060803	1.000000	0.71417	0.999000	0.59377	0.895000	0.52256	5.841000	0.69409	2.885000	0.99019	0.655000	0.94253	GAA	ODZ4	-	tigrfam_YD	ENSG00000149256		0.547	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODZ4	HGNC	protein_coding	OTTHUMT00000391406.2	82	0.00	0	C			78383155	78383155	-1	no_errors	ENST00000278550	ensembl	human	known	69_37n	missense	47	47.19	42	SNP	1.000	T
OGDH	4967	genome.wustl.edu	37	7	44736517	44736517	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:44736517G>C	ENST00000222673.5	+	15	1947	c.1905G>C	c.(1903-1905)ctG>ctC	p.L635L	OGDH_ENST00000449767.1_Silent_p.L631L|OGDH_ENST00000444676.1_Silent_p.L650L|OGDH_ENST00000543843.1_Silent_p.L586L|OGDH_ENST00000439616.2_Silent_p.L485L|OGDH_ENST00000447398.1_Silent_p.L646L	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	635					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	CTGCAGGGCTGAGCCGGATCT	0.602																																						dbGAP											0													62.0	54.0	57.0					7																	44736517		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.1905G>C	7.37:g.44736517G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Silent	SNP	pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	p.L635	ENST00000222673.5	37	c.1905	CCDS34627.1	7																																																																																			OGDH	-	pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	ENSG00000105953		0.602	OGDH-001	KNOWN	basic|CCDS	protein_coding	OGDH	HGNC	protein_coding	OTTHUMT00000339391.1	76	0.00	0	G			44736517	44736517	+1	no_errors	ENST00000222673	ensembl	human	known	69_37n	silent	43	18.87	10	SNP	1.000	C
OGN	4969	genome.wustl.edu	37	9	95155461	95155461	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:95155461C>G	ENST00000262551.4	-	4	754	c.334G>C	c.(334-336)Gat>Cat	p.D112H	OGN_ENST00000375561.5_Missense_Mutation_p.D112H|OGN_ENST00000468743.1_5'Flank|CENPP_ENST00000375587.3_Intron	NM_033014.2	NP_148935.1	P20774	MIME_HUMAN	osteoglycin	112					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|negative regulation of smooth muscle cell proliferation (GO:0048662)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	13						GGTACAGCATCAATGTCAACT	0.368																																						dbGAP											0													139.0	122.0	128.0					9																	95155461		2203	4300	6503	-	-	-	SO:0001583	missense	0			AI424992	CCDS6695.1	9q22	2008-02-05	2007-02-16		ENSG00000106809	ENSG00000106809		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	8126	protein-coding gene	gene with protein product	"""mimecan proteoglycan"""	602383	"""osteoglycin (osteoinductive factor)"""			2372374	Standard	NM_033014		Approved	mimecan, OIF, SLRR3A	uc004asa.3	P20774	OTTHUMG00000020224	ENST00000262551.4:c.334G>C	9.37:g.95155461C>G	ENSP00000262551:p.Asp112His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6FIB0|Q9UF90|Q9UNK5	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.D112H	ENST00000262551.4	37	c.334	CCDS6695.1	9	.	.	.	.	.	.	.	.	.	.	C	15.16	2.752460	0.49362	.	.	ENSG00000106809	ENST00000262551;ENST00000375561;ENST00000447356	D;D;D	0.83506	-1.73;-1.73;-1.73	5.08	5.08	0.68730	Leucine-rich repeat-containing N-terminal (1);	0.547135	0.21100	N	0.080165	D	0.82486	0.5047	L	0.54323	1.7	0.37185	D	0.903692	P;P	0.43287	0.694;0.802	B;B	0.41813	0.367;0.367	D	0.86120	0.1568	10	0.51188	T	0.08	.	18.8517	0.92235	0.0:1.0:0.0:0.0	.	170;112	B4DI63;P20774	.;MIME_HUMAN	H	112;112;170	ENSP00000262551:D112H;ENSP00000364711:D112H;ENSP00000396709:D170H	ENSP00000262551:D112H	D	-	1	0	OGN	94195282	0.864000	0.29904	0.993000	0.49108	0.507000	0.33981	2.165000	0.42396	2.547000	0.85894	0.650000	0.86243	GAT	OGN	-	NULL	ENSG00000106809		0.368	OGN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OGN	HGNC	protein_coding	OTTHUMT00000053087.1	144	0.00	0	C	NM_024416		95155461	95155461	-1	no_errors	ENST00000262551	ensembl	human	known	69_37n	missense	137	15.43	25	SNP	0.993	G
OLA1	29789	genome.wustl.edu	37	2	175087833	175087833	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:175087833G>C	ENST00000409546.1	-	4	991	c.361C>G	c.(361-363)Cac>Gac	p.H121D	OLA1_ENST00000284719.3_Missense_Mutation_p.H101D|OLA1_ENST00000428402.2_Missense_Mutation_p.H101D|OLA1_ENST00000344357.5_5'UTR					Obg-like ATPase 1											breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						TGCCCATTGTGAGCTCCTTTC	0.373																																						dbGAP											0													69.0	69.0	69.0					2																	175087833		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2255.1, CCDS42779.1	2q31.1	2014-06-24	2007-07-27	2007-07-27	ENSG00000138430	ENSG00000138430			28833	protein-coding gene	gene with protein product		611175	"""GTP-binding protein 9 (putative)"""	GTPBP9		17430889, 24486488	Standard	NM_013341		Approved	PTD004	uc002uih.3	Q9NTK5	OTTHUMG00000132335	ENST00000409546.1:c.361C>G	2.37:g.175087833G>C	ENSP00000386350:p.His121Asp	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_DUF933,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,superfamily_TGS-like,pirsf_CHP00092,prints_GTP_binding_domain,tigrfam_CHP00092	p.H101D	ENST00000409546.1	37	c.301		2	.	.	.	.	.	.	.	.	.	.	G	16.73	3.204199	0.58234	.	.	ENSG00000138430	ENST00000284719;ENST00000428402;ENST00000409546;ENST00000427472	T;T;T;T	0.17528	2.27;2.3;2.27;2.3	6.17	6.17	0.99709	GTP1/OBG (1);GTP-binding domain, HSR1-related (1);	0.088633	0.85682	D	0.000000	T	0.28732	0.0712	M	0.83603	2.65	0.58432	D	0.999996	P;B;B	0.35944	0.529;0.27;0.27	B;B;B	0.36766	0.138;0.232;0.232	T	0.03524	-1.1028	10	0.66056	D	0.02	.	15.581	0.76439	0.0:0.0:0.8623:0.1377	.	101;101;101	Q9NTK5-3;D7EHM2;Q9NTK5	.;.;OLA1_HUMAN	D	101;101;121;101	ENSP00000284719:H101D;ENSP00000410385:H101D;ENSP00000386350:H121D;ENSP00000414568:H101D	ENSP00000284719:H101D	H	-	1	0	OLA1	174796079	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.138000	0.71717	2.941000	0.99782	0.655000	0.94253	CAC	OLA1	-	pfam_GTP_binding_domain,pirsf_CHP00092,prints_GTP_binding_domain,tigrfam_CHP00092	ENSG00000138430		0.373	OLA1-003	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	OLA1	HGNC	protein_coding	OTTHUMT00000333877.1	94	0.00	0	G	NM_013341		175087833	175087833	-1	no_errors	ENST00000284719	ensembl	human	known	69_37n	missense	83	17.00	17	SNP	1.000	C
OLFM2	93145	genome.wustl.edu	37	19	9971362	9971362	+	Missense_Mutation	SNP	G	G	C	rs529000203		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:9971362G>C	ENST00000264833.4	-	2	357	c.172C>G	c.(172-174)Cga>Gga	p.R58G	OLFM2_ENST00000590841.1_5'Flank	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	58					protein secretion (GO:0009306)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular region (GO:0005576)|synapse (GO:0045202)				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						CTGCCATCTCGAGAGCAGGTA	0.622																																						dbGAP											0													31.0	25.0	27.0					19																	9971362		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF131839	CCDS12221.1	19p13.2	2008-07-03				ENSG00000105088			17189	protein-coding gene	gene with protein product	"""noelin 2"""						Standard	NM_058164		Approved	OlfC, NOE2	uc002mmp.3	O95897		ENST00000264833.4:c.172C>G	19.37:g.9971362G>C	ENSP00000264833:p.Arg58Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IMJ3|Q96FC2	Missense_Mutation	SNP	pfam_Olfac-like,pfam_Noelin-1,superfamily_Quinonprotein_ADH-like,smart_Olfac-like,pfscan_Olfac-like	p.R58G	ENST00000264833.4	37	c.172	CCDS12221.1	19	.	.	.	.	.	.	.	.	.	.	G	10.98	1.503850	0.26949	.	.	ENSG00000105088	ENST00000264833	T	0.53206	0.63	4.86	4.86	0.63082	.	0.000000	0.64402	D	0.000003	T	0.45296	0.1335	L	0.49640	1.575	0.80722	D	1	B	0.29232	0.238	B	0.33960	0.173	T	0.33394	-0.9870	9	.	.	.	.	15.5385	0.76021	0.0:0.0:1.0:0.0	.	58	O95897	NOE2_HUMAN	G	58	ENSP00000264833:R58G	.	R	-	1	2	OLFM2	9832362	0.998000	0.40836	0.994000	0.49952	0.023000	0.10783	1.461000	0.35255	2.528000	0.85240	0.655000	0.94253	CGA	OLFM2	-	pfam_Noelin-1	ENSG00000105088		0.622	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OLFM2	HGNC	protein_coding	OTTHUMT00000451119.1	39	0.00	0	G			9971362	9971362	-1	no_errors	ENST00000264833	ensembl	human	known	69_37n	missense	34	29.17	14	SNP	1.000	C
OLFML1	283298	genome.wustl.edu	37	11	7531061	7531061	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:7531061C>G	ENST00000329293.3	+	3	1245	c.851C>G	c.(850-852)tCt>tGt	p.S284C	OLFML1_ENST00000528758.1_3'UTR|OLFML1_ENST00000530135.1_Missense_Mutation_p.S284C|CTD-2516F10.2_ENST00000530201.1_RNA	NM_198474.3	NP_940876.2	Q6UWY5	OLFL1_HUMAN	olfactomedin-like 1	284	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.					extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		GCCATCCACTCTGGGCCAGGC	0.577																																						dbGAP											0													59.0	50.0	53.0					11																	7531061		2201	4296	6497	-	-	-	SO:0001583	missense	0			AY358591	CCDS7779.1	11p15	2008-02-05			ENSG00000183801	ENSG00000183801			24473	protein-coding gene	gene with protein product							Standard	NM_198474		Approved	UNQ564	uc001mfi.3	Q6UWY5	OTTHUMG00000165527	ENST00000329293.3:c.851C>G	11.37:g.7531061C>G	ENSP00000332511:p.Ser284Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DP03|Q569G4	Missense_Mutation	SNP	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like	p.S284C	ENST00000329293.3	37	c.851	CCDS7779.1	11	.	.	.	.	.	.	.	.	.	.	C	13.82	2.350135	0.41599	.	.	ENSG00000183801	ENST00000530135;ENST00000329293	D;D	0.90563	-2.69;-2.69	5.66	4.72	0.59763	Olfactomedin-like (3);	0.435447	0.22847	N	0.054919	D	0.92185	0.7522	M	0.62723	1.935	0.80722	D	1	P;P	0.42941	0.794;0.794	P;P	0.54499	0.478;0.754	D	0.92004	0.5613	10	0.87932	D	0	.	9.7059	0.40216	0.1561:0.6929:0.151:0.0	.	148;284	B4DN61;Q6UWY5	.;OLFL1_HUMAN	C	284	ENSP00000433455:S284C;ENSP00000332511:S284C	ENSP00000332511:S284C	S	+	2	0	OLFML1	7487637	0.303000	0.24463	0.998000	0.56505	0.202000	0.24057	3.542000	0.53625	2.665000	0.90641	0.563000	0.77884	TCT	OLFML1	-	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like	ENSG00000183801		0.577	OLFML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OLFML1	HGNC	protein_coding	OTTHUMT00000384656.1	71	0.00	0	C	NM_198474		7531061	7531061	+1	no_errors	ENST00000329293	ensembl	human	known	69_37n	missense	40	41.18	28	SNP	0.998	G
OLFML2A	169611	genome.wustl.edu	37	9	127572155	127572155	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:127572155G>A	ENST00000373580.3	+	8	1423	c.1423G>A	c.(1423-1425)Gcc>Acc	p.A475T	OLFML2A_ENST00000288815.5_Missense_Mutation_p.A261T	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	475	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						GTACCAGGGCGCCTTCTACTA	0.602																																						dbGAP											0													120.0	97.0	105.0					9																	127572155		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK092255	CCDS6857.2, CCDS65129.1	9q34.11	2008-02-05			ENSG00000185585	ENSG00000185585			27270	protein-coding gene	gene with protein product		615899				12477932	Standard	NM_001282715		Approved	FLJ00237	uc004bov.3	Q68BL7	OTTHUMG00000020663	ENST00000373580.3:c.1423G>A	9.37:g.127572155G>A	ENSP00000362682:p.Ala475Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JTM5|Q5JTM6|Q6UXW1|Q7Z5V3	Missense_Mutation	SNP	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like	p.A475T	ENST00000373580.3	37	c.1423	CCDS6857.2	9	.	.	.	.	.	.	.	.	.	.	G	34	5.313739	0.95655	.	.	ENSG00000185585	ENST00000342100;ENST00000373580;ENST00000288815	T;D	0.89270	1.65;-2.49	6.07	6.07	0.98685	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	D	0.94062	0.8097	M	0.66439	2.03	0.80722	D	1	D;D	0.89917	0.994;1.0	P;D	0.74674	0.804;0.984	D	0.93838	0.7134	10	0.87932	D	0	.	19.6321	0.95713	0.0:0.0:1.0:0.0	.	261;475	Q68BL7-3;Q68BL7	.;OLM2A_HUMAN	T	167;475;261	ENSP00000362682:A475T;ENSP00000288815:A261T	ENSP00000288815:A261T	A	+	1	0	OLFML2A	126611976	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.863000	0.87023	2.884000	0.98904	0.655000	0.94253	GCC	OLFML2A	-	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like	ENSG00000185585		0.602	OLFML2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	OLFML2A	HGNC	protein_coding	OTTHUMT00000054046.2	63	0.00	0	G	NM_182487		127572155	127572155	+1	no_errors	ENST00000373580	ensembl	human	known	69_37n	missense	56	11.11	7	SNP	1.000	A
OLFML2A	169611	genome.wustl.edu	37	9	127572254	127572254	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:127572254G>A	ENST00000373580.3	+	8	1522	c.1522G>A	c.(1522-1524)Gag>Aag	p.E508K	OLFML2A_ENST00000288815.5_Missense_Mutation_p.E294K	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	508	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						CGTGGTATATGAGGACACCAC	0.617																																						dbGAP											0													92.0	71.0	78.0					9																	127572254		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK092255	CCDS6857.2, CCDS65129.1	9q34.11	2008-02-05			ENSG00000185585	ENSG00000185585			27270	protein-coding gene	gene with protein product		615899				12477932	Standard	NM_001282715		Approved	FLJ00237	uc004bov.3	Q68BL7	OTTHUMG00000020663	ENST00000373580.3:c.1522G>A	9.37:g.127572254G>A	ENSP00000362682:p.Glu508Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JTM5|Q5JTM6|Q6UXW1|Q7Z5V3	Missense_Mutation	SNP	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like	p.E508K	ENST00000373580.3	37	c.1522	CCDS6857.2	9	.	.	.	.	.	.	.	.	.	.	G	25.1	4.605008	0.87157	.	.	ENSG00000185585	ENST00000342100;ENST00000373580;ENST00000288815	D;D	0.88741	-2.42;-2.42	6.07	6.07	0.98685	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	D	0.89083	0.6614	M	0.62723	1.935	0.80722	D	1	B;B	0.14805	0.009;0.011	B;B	0.22152	0.02;0.038	D	0.84044	0.0366	10	0.54805	T	0.06	.	19.6321	0.95713	0.0:0.0:1.0:0.0	.	294;508	Q68BL7-3;Q68BL7	.;OLM2A_HUMAN	K	200;508;294	ENSP00000362682:E508K;ENSP00000288815:E294K	ENSP00000288815:E294K	E	+	1	0	OLFML2A	126612075	1.000000	0.71417	0.998000	0.56505	0.947000	0.59692	8.032000	0.88838	2.884000	0.98904	0.655000	0.94253	GAG	OLFML2A	-	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like	ENSG00000185585		0.617	OLFML2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	OLFML2A	HGNC	protein_coding	OTTHUMT00000054046.2	26	0.00	0	G	NM_182487		127572254	127572254	+1	no_errors	ENST00000373580	ensembl	human	known	69_37n	missense	20	45.95	17	SNP	1.000	A
ONECUT2	9480	genome.wustl.edu	37	18	55103430	55103430	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr18:55103430C>G	ENST00000491143.2	+	1	514	c.482C>G	c.(481-483)tCc>tGc	p.S161C	AC090340.1_ENST00000581316.1_RNA	NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	161					cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|epithelial cell development (GO:0002064)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ morphogenesis (GO:0009887)|peripheral nervous system neuron development (GO:0048935)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)	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(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		CCACCCATCTCCACCGTGTCT	0.657																																						dbGAP											0													49.0	58.0	55.0					18																	55103430		2200	4299	6499	-	-	-	SO:0001583	missense	0			Y18198	CCDS42440.1	18q21.31	2012-03-09	2007-07-16		ENSG00000119547	ENSG00000119547		"""Homeoboxes / CUT class"""	8139	protein-coding gene	gene with protein product		604894	"""one cut domain, family member 2"""			9915796	Standard	NM_004852		Approved	OC-2	uc002lgo.3	O95948	OTTHUMG00000159776	ENST00000491143.2:c.482C>G	18.37:g.55103430C>G	ENSP00000419185:p.Ser161Cys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT	p.S161C	ENST00000491143.2	37	c.482	CCDS42440.1	18	.	.	.	.	.	.	.	.	.	.	C	13.48	2.251137	0.39797	.	.	ENSG00000119547	ENST00000491143;ENST00000262095	.	.	.	2.95	2.95	0.34219	.	0.000000	0.64402	U	0.000014	T	0.76285	0.3966	M	0.74647	2.275	0.51482	D	0.999925	D	0.76494	0.999	D	0.74674	0.984	T	0.79631	-0.1723	9	0.87932	D	0	.	12.6372	0.56689	0.0:1.0:0.0:0.0	.	161	O95948	ONEC2_HUMAN	C	142;161	.	ENSP00000262095:S161C	S	+	2	0	ONECUT2	53254428	1.000000	0.71417	1.000000	0.80357	0.302000	0.27658	7.428000	0.80296	1.197000	0.43143	0.298000	0.19748	TCC	ONECUT2	-	NULL	ENSG00000119547		0.657	ONECUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ONECUT2	HGNC	protein_coding	OTTHUMT00000357264.3	51	0.00	0	C			55103430	55103430	+1	no_errors	ENST00000262095	ensembl	human	known	69_37n	missense	35	32.69	17	SNP	1.000	G
OPA3	80207	genome.wustl.edu	37	19	46087996	46087996	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:46087996C>G	ENST00000263275.4	-	1	81	c.27G>C	c.(25-27)gcG>gcC	p.A9A	OPA3_ENST00000544371.1_Intron|OPA3_ENST00000323060.3_Silent_p.A9A	NM_025136.3	NP_079412.1	Q9H6K4	OPA3_HUMAN	optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)	9					growth (GO:0040007)|mitochondrion morphogenesis (GO:0070584)|neuromuscular process (GO:0050905)|regulation of lipid metabolic process (GO:0019216)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	mitochondrion (GO:0005739)				cervix(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)		ATAGCAGCTTCGCCATAGGGA	0.627																																						dbGAP											0													58.0	56.0	57.0					19																	46087996		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK025840	CCDS12668.1, CCDS33052.1	19q13.2-q13.3	2014-01-28				ENSG00000125741			8142	protein-coding gene	gene with protein product		606580				9097959, 11668429	Standard	NM_001017989		Approved	FLJ22187, MGA3	uc002pcj.4	Q9H6K4		ENST00000263275.4:c.27G>C	19.37:g.46087996C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P384|Q8N784	Silent	SNP	pfam_OPA3-like	p.A9	ENST00000263275.4	37	c.27	CCDS12668.1	19																																																																																			OPA3	-	pfam_OPA3-like	ENSG00000125741		0.627	OPA3-002	KNOWN	basic|CCDS	protein_coding	OPA3	HGNC	protein_coding	OTTHUMT00000459601.1	21	0.00	0	C			46087996	46087996	-1	no_errors	ENST00000323060	ensembl	human	known	69_37n	silent	29	17.14	6	SNP	1.000	G
OPN3	23596	genome.wustl.edu	37	1	241761207	241761207	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:241761207G>T	ENST00000366554.2	-	3	892	c.786C>A	c.(784-786)ttC>ttA	p.F262L	OPN3_ENST00000331838.5_Missense_Mutation_p.F183L|OPN3_ENST00000469376.1_5'UTR	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	opsin 3	262					detection of light stimulus (GO:0009583)|detection of visible light (GO:0009584)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			CCAGGAAGGTGAATATCATTA	0.388																																						dbGAP											0													142.0	138.0	139.0					1																	241761207		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF140242	CCDS31072.1	1q43	2014-06-13	2008-04-16		ENSG00000054277	ENSG00000054277		"""GPCR / Class A : Opsin receptors"""	14007	protein-coding gene	gene with protein product	"""panopsin"", ""protein phosphatase 1, regulatory subunit 116"""	606695	"""encephalopsin"""	ECPN		10234000, 11401433	Standard	NM_014322		Approved	ERO, NMO-1, encephalopsin, PPP1R116	uc001hza.3	Q9H1Y3	OTTHUMG00000039691	ENST00000366554.2:c.786C>A	1.37:g.241761207G>T	ENSP00000355512:p.Phe262Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IX08|Q9Y344	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.F262L	ENST00000366554.2	37	c.786	CCDS31072.1	1	.	.	.	.	.	.	.	.	.	.	G	0.767	-0.767273	0.02974	.	.	ENSG00000054277	ENST00000366554;ENST00000331838	T;T	0.32023	1.47;1.47	4.64	-1.36	0.09085	GPCR, rhodopsin-like superfamily (1);	0.563224	0.18262	N	0.146596	T	0.06280	0.0162	N	0.00885	-1.115	0.09310	N	1	B	0.14438	0.01	B	0.11329	0.006	T	0.30679	-0.9970	10	0.14252	T	0.57	.	1.6345	0.02739	0.4244:0.1048:0.2939:0.1769	.	262	Q9H1Y3	OPN3_HUMAN	L	262;183	ENSP00000355512:F262L;ENSP00000328018:F183L	ENSP00000328018:F183L	F	-	3	2	OPN3	239827830	0.996000	0.38824	0.000000	0.03702	0.641000	0.38312	0.446000	0.21694	-0.123000	0.11745	-0.140000	0.14226	TTC	OPN3	-	pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000054277		0.388	OPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPN3	HGNC	protein_coding	OTTHUMT00000095713.1	139	0.71	1	G	NM_014322		241761207	241761207	-1	no_errors	ENST00000366554	ensembl	human	known	69_37n	missense	101	41.28	71	SNP	0.001	T
OR10A4	283297	genome.wustl.edu	37	11	6898524	6898524	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:6898524C>G	ENST00000379829.2	+	1	669	c.646C>G	c.(646-648)Ctg>Gtg	p.L216V		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	216					axon guidance (GO:0007411)	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(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTTGCTGATCCTGGGATCCTA	0.522																																						dbGAP											0													181.0	139.0	153.0					11																	6898524		2201	4296	6497	-	-	-	SO:0001583	missense	0			AF209506	CCDS7774.1	11p15.4	2012-08-09	2002-11-13	2004-03-10	ENSG00000170782	ENSG00000170782		"""GPCR / Class A : Olfactory receptors"""	15130	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily A, member 4 pseudogene"""	OR10A4P			Standard	NM_207186		Approved		uc010rat.2	Q9H209	OTTHUMG00000165740	ENST00000379829.2:c.646C>G	11.37:g.6898524C>G	ENSP00000369157:p.Leu216Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNP5|B9EH36|Q96R20	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.L216V	ENST00000379829.2	37	c.646	CCDS7774.1	11	.	.	.	.	.	.	.	.	.	.	c	13.84	2.358349	0.41801	.	.	ENSG00000170782	ENST00000379829	T	0.00051	8.81	4.59	4.59	0.56863	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35207	N	0.003363	T	0.00178	0.0005	L	0.39020	1.185	0.24671	N	0.99342	B	0.33919	0.432	B	0.40940	0.344	T	0.48790	-0.9004	10	0.40728	T	0.16	.	10.3518	0.43941	0.1959:0.8041:0.0:0.0	.	216	Q9H209	O10A4_HUMAN	V	216	ENSP00000369157:L216V	ENSP00000369157:L216V	L	+	1	2	OR10A4	6855100	0.000000	0.05858	1.000000	0.80357	0.994000	0.84299	-0.158000	0.10070	2.535000	0.85469	0.651000	0.88453	CTG	OR10A4	-	pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000170782		0.522	OR10A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10A4	HGNC	protein_coding	OTTHUMT00000385985.1	136	0.73	1	C	NM_207186		6898524	6898524	+1	no_errors	ENST00000379829	ensembl	human	known	69_37n	missense	147	18.78	34	SNP	0.960	G
OR10AG1	282770	genome.wustl.edu	37	11	55735242	55735242	+	Nonsense_Mutation	SNP	G	G	T	rs375417087		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:55735242G>T	ENST00000312345.2	-	1	748	c.698C>A	c.(697-699)tCa>tAa	p.S233*		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	233						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					TAGGTGAGATGAGCAGGTGGA	0.393																																						dbGAP											0													70.0	68.0	68.0					11																	55735242		2201	4296	6497	-	-	-	SO:0001587	stop_gained	0			AB065594	CCDS31514.1	11q11	2012-08-09			ENSG00000174970	ENSG00000174970		"""GPCR / Class A : Olfactory receptors"""	19607	protein-coding gene	gene with protein product							Standard	NM_001005491		Approved		uc010rit.2	Q8NH19	OTTHUMG00000166824	ENST00000312345.2:c.698C>A	11.37:g.55735242G>T	ENSP00000311477:p.Ser233*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNH4|Q6IEU3	Nonsense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.S233*	ENST00000312345.2	37	c.698	CCDS31514.1	11	.	.	.	.	.	.	.	.	.	.	G	16.46	3.130019	0.56721	.	.	ENSG00000174970	ENST00000312345	.	.	.	5.37	4.45	0.53987	.	0.000000	0.53938	D	0.000045	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.0034	0.30310	0.0862:0.1596:0.7542:0.0	.	.	.	.	X	233	.	ENSP00000311477:S233X	S	-	2	0	OR10AG1	55491818	0.000000	0.05858	0.778000	0.31720	0.778000	0.44026	0.150000	0.16263	1.308000	0.44962	0.477000	0.44152	TCA	OR10AG1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000174970		0.393	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10AG1	HGNC	protein_coding	OTTHUMT00000391531.1	66	0.00	0	G	NM_001005491		55735242	55735242	-1	no_errors	ENST00000312345	ensembl	human	known	69_37n	nonsense	66	23.26	20	SNP	0.005	T
OR10AG1	282770	genome.wustl.edu	37	11	55735328	55735328	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:55735328C>G	ENST00000312345.2	-	1	662	c.612G>C	c.(610-612)ttG>ttC	p.L204F		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	204						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L204F(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					AGACAACAATCAACAGAAATG	0.418																																						dbGAP											1	Substitution - Missense(1)	kidney(1)											73.0	73.0	73.0					11																	55735328		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB065594	CCDS31514.1	11q11	2012-08-09			ENSG00000174970	ENSG00000174970		"""GPCR / Class A : Olfactory receptors"""	19607	protein-coding gene	gene with protein product							Standard	NM_001005491		Approved		uc010rit.2	Q8NH19	OTTHUMG00000166824	ENST00000312345.2:c.612G>C	11.37:g.55735328C>G	ENSP00000311477:p.Leu204Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNH4|Q6IEU3	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.L204F	ENST00000312345.2	37	c.612	CCDS31514.1	11	.	.	.	.	.	.	.	.	.	.	C	14.26	2.482822	0.44147	.	.	ENSG00000174970	ENST00000312345	T	0.42131	0.98	5.37	2.29	0.28610	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43579	D	0.000556	T	0.34395	0.0896	L	0.37507	1.11	0.09310	N	0.999991	P	0.35872	0.525	B	0.44163	0.443	T	0.15665	-1.0429	10	0.48119	T	0.1	.	4.2495	0.10688	0.0:0.5565:0.1701:0.2734	.	204	Q8NH19	O10AG_HUMAN	F	204	ENSP00000311477:L204F	ENSP00000311477:L204F	L	-	3	2	OR10AG1	55491904	0.000000	0.05858	0.704000	0.30370	0.954000	0.61252	-1.697000	0.01910	0.675000	0.31264	0.477000	0.44152	TTG	OR10AG1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000174970		0.418	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10AG1	HGNC	protein_coding	OTTHUMT00000391531.1	90	0.00	0	C	NM_001005491		55735328	55735328	-1	no_errors	ENST00000312345	ensembl	human	known	69_37n	missense	62	42.73	47	SNP	0.247	G
OR10G2	26534	genome.wustl.edu	37	14	22102971	22102971	+	Missense_Mutation	SNP	C	C	G	rs201827486		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:22102971C>G	ENST00000542433.1	-	1	125	c.28G>C	c.(28-30)Gat>Cat	p.D10H		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	10						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		ACCACGGCATCCAGCGATGTG	0.433																																						dbGAP											0													93.0	88.0	90.0					14																	22102971		2203	4298	6501	-	-	-	SO:0001583	missense	0				CCDS32047.1	14q11.2	2013-09-24			ENSG00000255582	ENSG00000255582		"""GPCR / Class A : Olfactory receptors"""	8170	protein-coding gene	gene with protein product						8188290	Standard	NM_001005466		Approved		uc010tmc.2	Q8NGC3	OTTHUMG00000168890	ENST00000542433.1:c.28G>C	14.37:g.22102971C>G	ENSP00000445383:p.Asp10His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPD0	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.D10H	ENST00000542433.1	37	c.28	CCDS32047.1	14	.	.	.	.	.	.	.	.	.	.	C	9.833	1.188888	0.21954	.	.	ENSG00000255582	ENST00000542433	T	0.00335	8.06	3.95	3.95	0.45737	.	0.309163	0.23043	N	0.052596	T	0.00144	0.0004	N	0.02169	-0.655	0.32068	N	0.594806	P	0.45634	0.863	P	0.47645	0.553	T	0.76694	-0.2865	10	0.22706	T	0.39	-12.8929	11.3479	0.49571	0.0:1.0:0.0:0.0	.	10	Q8NGC3	O10G2_HUMAN	H	10	ENSP00000445383:D10H	ENSP00000445383:D10H	D	-	1	0	OR10G2	21172811	0.293000	0.24371	0.961000	0.40146	0.094000	0.18550	-0.150000	0.10189	2.021000	0.59480	0.563000	0.77884	GAT	OR10G2	-	NULL	ENSG00000255582		0.433	OR10G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G2	HGNC	protein_coding	OTTHUMT00000401525.1	22	0.00	0	C			22102971	22102971	-1	no_errors	ENST00000542433	ensembl	human	known	69_37n	missense	14	30.00	6	SNP	0.957	G
OR10K1	391109	genome.wustl.edu	37	1	158435937	158435937	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:158435937C>T	ENST00000289451.2	+	1	666	c.586C>T	c.(586-588)Cag>Tag	p.Q196*		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	196						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					CGGCTTCAGTCAGCTGGTCAT	0.478																																						dbGAP											0													173.0	171.0	171.0					1																	158435937		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AP002532	CCDS30897.1	1q23.1	2012-08-09			ENSG00000173285	ENSG00000173285		"""GPCR / Class A : Olfactory receptors"""	14693	protein-coding gene	gene with protein product							Standard	NM_001004473		Approved		uc010pij.2	Q8NGX5	OTTHUMG00000017517	ENST00000289451.2:c.586C>T	1.37:g.158435937C>T	ENSP00000289451:p.Gln196*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFS2	Nonsense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.Q196*	ENST00000289451.2	37	c.586	CCDS30897.1	1	.	.	.	.	.	.	.	.	.	.	c	13.92	2.380545	0.42207	.	.	ENSG00000173285	ENST00000289451	.	.	.	4.24	4.24	0.50183	.	0.000000	0.40818	N	0.001016	.	.	.	.	.	.	0.58432	D	0.999996	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	10.089	0.42436	0.0:0.7954:0.2046:0.0	.	.	.	.	X	196	.	ENSP00000289451:Q196X	Q	+	1	0	OR10K1	156702561	0.026000	0.19158	0.991000	0.47740	0.366000	0.29705	0.773000	0.26661	2.160000	0.67779	0.557000	0.71058	CAG	OR10K1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000173285		0.478	OR10K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10K1	HGNC	protein_coding	OTTHUMT00000046367.1	118	0.84	1	C			158435937	158435937	+1	no_errors	ENST00000289451	ensembl	human	known	69_37n	nonsense	123	19.08	29	SNP	0.114	T
OR10P1	121130	genome.wustl.edu	37	12	56031374	56031374	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:56031374G>C	ENST00000309675.2	+	1	731	c.699G>C	c.(697-699)caG>caC	p.Q233H	RP11-644F5.16_ENST00000556606.1_RNA	NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1	233						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						CCTCCACCCAGAGCCGCCGCA	0.562																																						dbGAP											0													98.0	86.0	90.0					12																	56031374		2203	4300	6503	-	-	-	SO:0001583	missense	0			BK004259	CCDS31828.1	12q13.13	2012-08-09		2004-03-10		ENSG00000175398		"""GPCR / Class A : Olfactory receptors"""	15378	protein-coding gene	gene with protein product				OR10P1P, OR10P2P, OR10P3P			Standard	NM_206899		Approved	OST701	uc010spq.2	Q8NGE3	OTTHUMG00000169961	ENST00000309675.2:c.699G>C	12.37:g.56031374G>C	ENSP00000308082:p.Gln233His	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGY4	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.Q233H	ENST00000309675.2	37	c.699	CCDS31828.1	12	.	.	.	.	.	.	.	.	.	.	G	1.312	-0.601946	0.03744	.	.	ENSG00000175398	ENST00000309675	T	0.00224	8.51	4.15	0.0209	0.14126	GPCR, rhodopsin-like superfamily (1);	0.760978	0.11205	N	0.588382	T	0.00178	0.0005	L	0.46947	1.48	0.09310	N	1	B	0.17038	0.02	B	0.20384	0.029	T	0.25710	-1.0124	10	0.62326	D	0.03	.	6.1048	0.20067	0.1855:0.4597:0.3547:0.0	.	233	Q8NGE3	O10P1_HUMAN	H	233	ENSP00000308082:Q233H	ENSP00000308082:Q233H	Q	+	3	2	OR10P1	54317641	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.307000	0.08167	-0.085000	0.12573	-0.291000	0.09656	CAG	OR10P1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000175398		0.562	OR10P1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10P1	HGNC	protein_coding	OTTHUMT00000406680.1	54	0.00	0	G			56031374	56031374	+1	no_errors	ENST00000309675	ensembl	human	known	69_37n	missense	43	15.69	8	SNP	0.000	C
OR11H12	440153	genome.wustl.edu	37	14	19378131	19378131	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:19378131C>T	ENST00000550708.1	+	1	610	c.538C>T	c.(538-540)Cag>Tag	p.Q180*		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	180						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTCATCTCTCAGATGCCCTT	0.473																																						dbGAP											0													45.0	45.0	45.0					14																	19378131		1517	3189	4706	-	-	-	SO:0001587	stop_gained	0				CCDS32017.1	14q11.2	2013-01-25			ENSG00000257115	ENSG00000257115		"""GPCR / Class A : Olfactory receptors"""	30738	protein-coding gene	gene with protein product							Standard	NM_001013354		Approved		uc010tkp.2	B2RN74	OTTHUMG00000170298	ENST00000550708.1:c.538C>T	14.37:g.19378131C>T	ENSP00000449002:p.Gln180*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.Q180*	ENST00000550708.1	37	c.538	CCDS32017.1	14	.	.	.	.	.	.	.	.	.	.	c	11.10	1.540485	0.27563	.	.	ENSG00000257115	ENST00000550708	.	.	.	0.585	0.585	0.17428	.	0.184349	0.26187	N	0.025827	.	.	.	.	.	.	0.80722	D	1.000000	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	3.7193	0.08450	0.4297:0.5702:1.0E-4:0.0	.	.	.	.	X	180	.	ENSP00000449002:Q180X	Q	+	1	0	CR383656.1	18448131	0.000000	0.05858	0.965000	0.40720	0.111000	0.19643	0.285000	0.18883	0.619000	0.30197	0.064000	0.15345	CAG	OR11H12	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000257115		0.473	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR11H12	Clone_based_vega_gene	protein_coding	OTTHUMT00000408402.1	385	0.00	0	C	NM_001013354		19378131	19378131	+1	no_errors	ENST00000550708	ensembl	human	known	69_37n	nonsense	321	16.84	65	SNP	0.002	T
OR11L1	391189	genome.wustl.edu	37	1	248004539	248004539	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:248004539G>T	ENST00000355784.2	-	1	715	c.660C>A	c.(658-660)ttC>ttA	p.F220L		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	220						extracellular vesicular exosome (GO:0070062)|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(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AGGACACAATGAAAACATAGG	0.488																																						dbGAP											0													84.0	87.0	86.0					1																	248004539		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"""GPCR / Class A : Olfactory receptors"""	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.660C>A	1.37:g.248004539G>T	ENSP00000348033:p.Phe220Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.F220L	ENST00000355784.2	37	c.660	CCDS31098.1	1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.357255	0.00214	.	.	ENSG00000197591	ENST00000355784	T	0.00063	8.78	4.27	2.29	0.28610	GPCR, rhodopsin-like superfamily (1);	0.225311	0.22322	U	0.061588	T	0.00109	0.0003	L	0.28649	0.875	0.09310	N	1	B	0.06786	0.001	B	0.15052	0.012	T	0.09818	-1.0657	10	0.10377	T	0.69	.	5.3272	0.15913	0.276:0.148:0.576:0.0	.	220	Q8NGX0	O11L1_HUMAN	L	220	ENSP00000348033:F220L	ENSP00000348033:F220L	F	-	3	2	OR11L1	246071162	0.000000	0.05858	0.103000	0.21229	0.116000	0.19942	-0.512000	0.06313	0.495000	0.27882	0.543000	0.68304	TTC	OR11L1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000197591		0.488	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR11L1	HGNC	protein_coding	OTTHUMT00000096850.1	82	0.00	0	G	NM_001001959		248004539	248004539	-1	no_errors	ENST00000355784	ensembl	human	known	69_37n	missense	104	16.13	20	SNP	0.061	T
OR13C2	392376	genome.wustl.edu	37	9	107367193	107367193	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:107367193G>C	ENST00000542196.1	-	1	758	c.716C>G	c.(715-717)tCt>tGt	p.S239C		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	239						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						TGAACAGGTAGAGGAAGCTTT	0.403																																						dbGAP											0													106.0	101.0	103.0					9																	107367193		2201	4300	6501	-	-	-	SO:0001583	missense	0				CCDS35092.1	9q31.1	2012-10-03			ENSG00000257019	ENSG00000276119		"""GPCR / Class A : Olfactory receptors"""	14701	protein-coding gene	gene with protein product							Standard	NM_001004481		Approved		uc011lvq.2	Q8NGS9	OTTHUMG00000020415	ENST00000542196.1:c.716C>G	9.37:g.107367193G>C	ENSP00000438815:p.Ser239Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGV8|Q6IF54	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.S239C	ENST00000542196.1	37	c.716	CCDS35092.1	9	.	.	.	.	.	.	.	.	.	.	G	9.598	1.127951	0.20959	.	.	ENSG00000257019	ENST00000542196	T	0.00314	8.14	3.41	3.41	0.39046	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35708	U	0.003029	T	0.01387	0.0045	H	0.99368	4.535	0.21020	N	0.999804	D	0.89917	1.0	D	0.91635	0.999	T	0.21655	-1.0239	10	0.87932	D	0	.	12.3439	0.55109	0.0:0.0:1.0:0.0	.	239	Q8NGS9	O13C2_HUMAN	C	239	ENSP00000438815:S239C	ENSP00000438815:S239C	S	-	2	0	OR13C2	106407014	0.006000	0.16342	0.701000	0.30321	0.131000	0.20780	1.314000	0.33597	1.741000	0.51731	0.313000	0.20887	TCT	OR13C2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000257019		0.403	OR13C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13C2	HGNC	protein_coding	OTTHUMT00000053489.2	95	0.00	0	G	NM_001004481		107367193	107367193	-1	no_errors	ENST00000542196	ensembl	human	known	69_37n	missense	53	35.37	29	SNP	0.657	C
OR13C9	286362	genome.wustl.edu	37	9	107380461	107380461	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:107380461G>T	ENST00000259362.1	-	1	24	c.25C>A	c.(25-27)Ctg>Atg	p.L9M		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	9						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(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						AATTCCACCAGAATGGTTTGG	0.338																																						dbGAP											0													77.0	82.0	80.0					9																	107380461		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS35093.1	9q31.1	2013-09-24			ENSG00000136839	ENSG00000136839		"""GPCR / Class A : Olfactory receptors"""	15104	protein-coding gene	gene with protein product							Standard	NM_001001956		Approved		uc011lvr.2	Q8NGT0	OTTHUMG00000020416	ENST00000259362.1:c.25C>A	9.37:g.107380461G>T	ENSP00000259362:p.Leu9Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFL2	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.L9M	ENST00000259362.1	37	c.25	CCDS35093.1	9	.	.	.	.	.	.	.	.	.	.	G	9.273	1.046167	0.19748	.	.	ENSG00000136839	ENST00000259362	T	0.00518	6.86	4.79	-3.66	0.04489	.	0.194389	0.24156	N	0.041022	T	0.00241	0.0007	N	0.14661	0.345	0.09310	N	1	B	0.18863	0.031	B	0.19946	0.027	T	0.48007	-0.9072	10	0.51188	T	0.08	.	1.3408	0.02154	0.3175:0.2408:0.319:0.1227	.	9	Q8NGT0	O13C9_HUMAN	M	9	ENSP00000259362:L9M	ENSP00000259362:L9M	L	-	1	2	OR13C9	106420282	0.000000	0.05858	0.000000	0.03702	0.987000	0.75469	-3.693000	0.00391	-0.578000	0.05959	0.573000	0.79308	CTG	OR13C9	-	NULL	ENSG00000136839		0.338	OR13C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13C9	HGNC	protein_coding	OTTHUMT00000053490.1	87	0.00	0	G			107380461	107380461	-1	no_errors	ENST00000259362	ensembl	human	known	69_37n	missense	44	24.14	14	SNP	0.000	T
OR13D1	286365	genome.wustl.edu	37	9	107456838	107456838	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:107456838C>T	ENST00000318763.5	+	1	179	c.136C>T	c.(136-138)Ctg>Ttg	p.L46L		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	46						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						TGAATTCTTTCTGGTGGGGCT	0.438																																						dbGAP											0													67.0	68.0	67.0					9																	107456838		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS35094.1	9q31.1	2013-09-24			ENSG00000179055	ENSG00000179055		"""GPCR / Class A : Olfactory receptors"""	14695	protein-coding gene	gene with protein product							Standard	NM_001004484		Approved		uc011lvs.2	Q8NGV5	OTTHUMG00000020412	ENST00000318763.5:c.136C>T	9.37:g.107456838C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B9EIS1|Q6IFL1	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.L46	ENST00000318763.5	37	c.136	CCDS35094.1	9																																																																																			OR13D1	-	NULL	ENSG00000179055		0.438	OR13D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13D1	HGNC	protein_coding	OTTHUMT00000053483.1	83	0.00	0	C			107456838	107456838	+1	no_errors	ENST00000318763	ensembl	human	known	69_37n	silent	71	22.58	21	SNP	0.409	T
OR13D1	286365	genome.wustl.edu	37	9	107457492	107457492	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:107457492G>A	ENST00000318763.5	+	1	833	c.790G>A	c.(790-792)Gag>Aag	p.E264K		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	264						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						TAATTGTGCTGAGGGAAGAAA	0.388																																						dbGAP											0													160.0	154.0	156.0					9																	107457492		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS35094.1	9q31.1	2013-09-24			ENSG00000179055	ENSG00000179055		"""GPCR / Class A : Olfactory receptors"""	14695	protein-coding gene	gene with protein product							Standard	NM_001004484		Approved		uc011lvs.2	Q8NGV5	OTTHUMG00000020412	ENST00000318763.5:c.790G>A	9.37:g.107457492G>A	ENSP00000317357:p.Glu264Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EIS1|Q6IFL1	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.E264K	ENST00000318763.5	37	c.790	CCDS35094.1	9	.	.	.	.	.	.	.	.	.	.	G	9.343	1.063511	0.20067	.	.	ENSG00000179055	ENST00000318763	T	0.00174	8.62	3.65	3.65	0.41850	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36134	U	0.002780	T	0.00178	0.0005	L	0.46614	1.455	0.09310	N	1	P	0.36125	0.538	B	0.38327	0.271	T	0.33854	-0.9852	10	0.52906	T	0.07	.	6.8656	0.24093	0.1275:0.0:0.8725:0.0	.	264	Q8NGV5	O13D1_HUMAN	K	264	ENSP00000317357:E264K	ENSP00000317357:E264K	E	+	1	0	OR13D1	106497313	0.000000	0.05858	0.037000	0.18230	0.541000	0.35023	-0.489000	0.06490	1.860000	0.53959	0.511000	0.50034	GAG	OR13D1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000179055		0.388	OR13D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13D1	HGNC	protein_coding	OTTHUMT00000053483.1	163	0.00	0	G			107457492	107457492	+1	no_errors	ENST00000318763	ensembl	human	known	69_37n	missense	175	19.72	43	SNP	0.009	A
OR13G1	441933	genome.wustl.edu	37	1	247835510	247835510	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:247835510C>T	ENST00000359688.2	-	1	855	c.834G>A	c.(832-834)gtG>gtA	p.V278V	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	278						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V278V(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			ATGTGGGAGTCACAAGAGTAT	0.438																																						dbGAP											2	Substitution - coding silent(2)	lung(2)											115.0	117.0	117.0					1																	247835510		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB065623	CCDS31094.1	1q44	2012-08-09			ENSG00000197437	ENSG00000197437		"""GPCR / Class A : Olfactory receptors"""	14999	protein-coding gene	gene with protein product		611677					Standard	NM_001005487		Approved		uc001idi.1	Q8NGZ3	OTTHUMG00000040212	ENST00000359688.2:c.834G>A	1.37:g.247835510C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RN80|Q5T2T2|Q6IF86	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.V278	ENST00000359688.2	37	c.834	CCDS31094.1	1																																																																																			OR13G1	-	pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000197437		0.438	OR13G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13G1	HGNC	protein_coding	OTTHUMT00000096869.1	96	0.00	0	C	NM_001005487		247835510	247835510	-1	no_errors	ENST00000359688	ensembl	human	known	69_37n	silent	102	14.29	17	SNP	0.003	T
OR14A16	284532	genome.wustl.edu	37	1	247978165	247978165	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:247978165C>G	ENST00000357627.1	-	1	866	c.867G>C	c.(865-867)ttG>ttC	p.L289F		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	289						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(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						CCTTGTTTCTCAAACTGTATA	0.393																																					Ovarian(112;180 1586 15073 21914 33526)	dbGAP											0													61.0	60.0	60.0					1																	247978165		2203	4300	6503	-	-	-	SO:0001583	missense	0			BK004366	CCDS31097.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000196772	ENSG00000196772		"""GPCR / Class A : Olfactory receptors"""	15022	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AT, member 1"""	OR5AT1			Standard	NM_001001966		Approved		uc001idm.1	Q8NHC5	OTTHUMG00000040199	ENST00000357627.1:c.867G>C	1.37:g.247978165C>G	ENSP00000350248:p.Leu289Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IF96	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.L289F	ENST00000357627.1	37	c.867	CCDS31097.1	1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.036562	0.35893	.	.	ENSG00000196772	ENST00000357627	T	0.39787	1.06	3.69	-7.39	0.01402	.	0.462575	0.15624	N	0.252752	T	0.56093	0.1962	M	0.90977	3.165	0.09310	N	0.999997	P	0.51449	0.945	P	0.59012	0.85	T	0.52275	-0.8597	10	0.72032	D	0.01	.	5.5712	0.17198	0.1009:0.4908:0.2041:0.2042	.	289	Q8NHC5	O14AG_HUMAN	F	289	ENSP00000350248:L289F	ENSP00000350248:L289F	L	-	3	2	OR14A16	246044788	0.005000	0.15991	0.001000	0.08648	0.151000	0.21798	-1.522000	0.02237	-1.817000	0.01219	-0.332000	0.08345	TTG	OR14A16	-	prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	ENSG00000196772		0.393	OR14A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR14A16	HGNC	protein_coding	OTTHUMT00000096856.1	104	0.00	0	C	NM_001001966		247978165	247978165	-1	no_errors	ENST00000357627	ensembl	human	known	69_37n	missense	77	25.96	27	SNP	0.043	G
OR14C36	127066	genome.wustl.edu	37	1	248512625	248512625	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:248512625G>A	ENST00000317861.1	+	1	549	c.549G>A	c.(547-549)ctG>ctA	p.L183L		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	183						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						CCTCTCTGCTGAAGCTCTCTT	0.498																																						dbGAP											0													162.0	144.0	150.0					1																	248512625		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BK004466	CCDS31112.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000177174	ENSG00000177174		"""GPCR / Class A : Olfactory receptors"""	15026	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BF, member 1"""	OR5BF1			Standard	NM_001001918		Approved		uc010pzl.2	Q8NHC7	OTTHUMG00000040463	ENST00000317861.1:c.549G>A	1.37:g.248512625G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IEZ6	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.L183	ENST00000317861.1	37	c.549	CCDS31112.1	1																																																																																			OR14C36	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_supfam	ENSG00000177174		0.498	OR14C36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR14C36	HGNC	protein_coding	OTTHUMT00000097359.1	142	0.00	0	G	NM_001001918		248512625	248512625	+1	no_errors	ENST00000317861	ensembl	human	known	69_37n	silent	175	15.87	33	SNP	0.003	A
OR14I1	401994	genome.wustl.edu	37	1	248845001	248845001	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:248845001G>A	ENST00000342623.3	-	1	628	c.605C>T	c.(604-606)tCa>tTa	p.S202L		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	202						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						AACCAAGCATGAGCTCAGGGC	0.483																																						dbGAP											0													79.0	85.0	83.0					1																	248845001		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS31125.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000189181	ENSG00000189181		"""GPCR / Class A : Olfactory receptors"""	19575	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BU, member 1"""	OR5BU1P, OR5BU1			Standard	NM_001004734		Approved		uc001ieu.1	A6ND48	OTTHUMG00000040378	ENST00000342623.3:c.605C>T	1.37:g.248845001G>A	ENSP00000339726:p.Ser202Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt	p.S202L	ENST00000342623.3	37	c.605	CCDS31125.1	1	.	.	.	.	.	.	.	.	.	.	.	9.435	1.086452	0.20390	.	.	ENSG00000189181	ENST00000342623	T	0.33865	1.39	3.0	2.06	0.26882	GPCR, rhodopsin-like superfamily (1);	0.417145	0.17762	N	0.162842	T	0.21468	0.0517	L	0.28556	0.865	0.09310	N	1	B	0.12630	0.006	B	0.24006	0.05	T	0.24657	-1.0154	10	0.13853	T	0.58	.	5.3935	0.16257	0.2792:0.0:0.7208:0.0	.	202	A6ND48	O14I1_HUMAN	L	202	ENSP00000339726:S202L	ENSP00000339726:S202L	S	-	2	0	OR14I1	246911624	0.000000	0.05858	0.004000	0.12327	0.664000	0.39144	0.425000	0.21346	0.550000	0.28991	0.543000	0.68304	TCA	OR14I1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000189181		0.483	OR14I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR14I1	HGNC	protein_coding	OTTHUMT00000097128.1	62	0.00	0	G	NM_001004734		248845001	248845001	-1	no_errors	ENST00000342623	ensembl	human	known	69_37n	missense	79	16.84	16	SNP	0.004	A
OR1D5	8386	genome.wustl.edu	37	17	2966653	2966653	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:2966653C>T	ENST00000575751.1	-	1	248	c.249G>A	c.(247-249)gtG>gtA	p.V83V		NM_014566.1	NP_055381.1	P58170	OR1D5_HUMAN	olfactory receptor, family 1, subfamily D, member 5	83					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|G-protein coupled receptor signaling pathway (GO:0007186)|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)			kidney(1)|lung(10)	11						ACTGGAAGTTCACCAGCATCT	0.542																																						dbGAP											0													23.0	23.0	23.0					17																	2966653		2076	4199	6275	-	-	-	SO:0001819	synonymous_variant	0			AF087923	CCDS58499.1	17p13.3	2012-10-09			ENSG00000262628	ENSG00000262628		"""GPCR / Class A : Olfactory receptors"""	8186	protein-coding gene	gene with protein product						10673334	Standard	NM_014566		Approved	OR17-31	uc021tns.1	P58170	OTTHUMG00000177676	ENST00000575751.1:c.249G>A	17.37:g.2966653C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96RA6	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.V83	ENST00000575751.1	37	c.249	CCDS58499.1	17																																																																																			OR1D5	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000262628		0.542	OR1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1D5	Clone_based_vega_gene	protein_coding	OTTHUMT00000438410.2	63	0.00	0	C	NM_014566		2966653	2966653	-1	no_errors	ENST00000575751	ensembl	human	known	69_37n	silent	78	18.75	18	SNP	0.002	T
OR1E1	8387	genome.wustl.edu	37	17	3300920	3300920	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:3300920G>C	ENST00000322608.2	-	1	784	c.785C>G	c.(784-786)tCa>tGa	p.S262*		NM_003553.2	NP_003544.2	P30953	OR1E1_HUMAN	olfactory receptor, family 1, subfamily E, member 1	262			S -> P (in dbSNP:rs379856).		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						ATTAGCTGATGAGCATAAGTA	0.478																																						dbGAP											0													106.0	98.0	100.0					17																	3300920		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			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.785C>G	17.37:g.3300920G>C	ENSP00000313384:p.Ser262*	Somatic		WXS	Illumina GAIIx	Phase_IV	O43884|P47882|P47885|Q6IFA9|Q6IFM5|Q9UBJ1|Q9UM60	Nonsense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.S262*	ENST00000322608.2	37	c.785	CCDS11024.1	17	.	.	.	.	.	.	.	.	.	.	G	13.12	2.143257	0.37825	.	.	ENSG00000180016	ENST00000322608	.	.	.	4.69	4.69	0.59074	.	0.000000	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	14.4566	0.67420	0.0:0.0:1.0:0.0	.	.	.	.	X	262	.	ENSP00000313384:S262X	S	-	2	0	OR1E1	3247670	1.000000	0.71417	0.762000	0.31397	0.136000	0.21042	4.743000	0.62110	2.449000	0.82847	0.591000	0.81541	TCA	OR1E1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000180016		0.478	OR1E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1E1	HGNC	protein_coding	OTTHUMT00000207303.1	81	0.00	0	G	NM_003553		3300920	3300920	-1	no_errors	ENST00000322608	ensembl	human	known	69_37n	nonsense	51	17.46	11	SNP	0.245	C
OR1J1	347168	genome.wustl.edu	37	9	125239396	125239396	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:125239396C>G	ENST00000259357.2	-	1	839	c.810G>C	c.(808-810)aaG>aaC	p.K270N	RP11-542K23.9_ENST00000412262.2_RNA	NM_001004451.1	NP_001004451.1	Q8NGS3	OR1J1_HUMAN	olfactory receptor, family 1, subfamily J, member 1	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						CAATTATGTTCTTGTCATTGG	0.418																																						dbGAP											0													158.0	152.0	154.0					9																	125239396		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL353767	CCDS35120.1	9q33.2	2013-09-20			ENSG00000136834	ENSG00000136834		"""GPCR / Class A : Olfactory receptors"""	8208	protein-coding gene	gene with protein product							Standard	NM_001004451		Approved	hg32	uc011lyu.2	Q8NGS3	OTTHUMG00000020603	ENST00000259357.2:c.810G>C	9.37:g.125239396C>G	ENSP00000259357:p.Lys270Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A3KFL8|Q6IF10|Q96R88	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.K270N	ENST00000259357.2	37	c.810	CCDS35120.1	9	.	.	.	.	.	.	.	.	.	.	C	4.312	0.057249	0.08339	.	.	ENSG00000136834	ENST00000259357	T	0.00107	8.72	4.93	-6.55	0.01854	GPCR, rhodopsin-like superfamily (1);	0.797629	0.11351	N	0.572951	T	0.00144	0.0004	M	0.70842	2.15	0.09310	N	1	B	0.17667	0.023	B	0.24269	0.052	T	0.43065	-0.9414	10	0.52906	T	0.07	.	0.736	0.00965	0.3612:0.1912:0.2527:0.1949	.	270	Q8NGS3	OR1J1_HUMAN	N	270	ENSP00000259357:K270N	ENSP00000259357:K270N	K	-	3	2	OR1J1	124279217	0.000000	0.05858	0.001000	0.08648	0.028000	0.11728	-4.246000	0.00267	-1.094000	0.03054	0.597000	0.82753	AAG	OR1J1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000136834		0.418	OR1J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1J1	HGNC	protein_coding	OTTHUMT00000053931.1	107	0.00	0	C			125239396	125239396	-1	no_errors	ENST00000259357	ensembl	human	known	69_37n	missense	114	23.49	35	SNP	0.000	G
OR2G3	81469	genome.wustl.edu	37	1	247768951	247768951	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:247768951C>A	ENST00000320002.2	+	1	96	c.64C>A	c.(64-66)Cgt>Agt	p.R22S	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA|RNU6-691P_ENST00000516585.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AGACCACCCTCGTCTGGAGGC	0.493																																						dbGAP											0													173.0	179.0	177.0					1																	247768951		2203	4300	6503	-	-	-	SO:0001583	missense	0			BK004417	CCDS31093.1	1q44	2012-08-09			ENSG00000177476	ENSG00000177476		"""GPCR / Class A : Olfactory receptors"""	15008	protein-coding gene	gene with protein product							Standard	NM_001001914		Approved		uc010pyz.2	Q8NGZ4	OTTHUMG00000040576	ENST00000320002.2:c.64C>A	1.37:g.247768951C>A	ENSP00000326301:p.Arg22Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RN64|Q5JQT1|Q6IF45	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.R22S	ENST00000320002.2	37	c.64	CCDS31093.1	1	.	.	.	.	.	.	.	.	.	.	C	9.594	1.126867	0.20959	.	.	ENSG00000177476	ENST00000320002	T	0.00421	7.46	3.64	1.45	0.22620	.	0.882556	0.09307	U	0.820152	T	0.00271	0.0008	N	0.25060	0.705	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.24548	-1.0157	10	0.26408	T	0.33	.	10.504	0.44823	0.0:0.4558:0.5441:0.0	.	22	Q8NGZ4	OR2G3_HUMAN	S	22	ENSP00000326301:R22S	ENSP00000326301:R22S	R	+	1	0	OR2G3	245835574	0.000000	0.05858	0.470000	0.27216	0.890000	0.51754	-2.606000	0.00888	0.829000	0.34733	0.486000	0.48141	CGT	OR2G3	-	NULL	ENSG00000177476		0.493	OR2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2G3	HGNC	protein_coding	OTTHUMT00000097624.1	166	0.00	0	C			247768951	247768951	+1	no_errors	ENST00000320002	ensembl	human	known	69_37n	missense	183	21.12	49	SNP	0.002	A
OR2J2	26707	genome.wustl.edu	37	6	29141771	29141771	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:29141771C>T	ENST00000377167.2	+	1	461	c.359C>T	c.(358-360)tCa>tTa	p.S120L		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						GTGGTGATGTCATATGATCGT	0.483																																						dbGAP											0													308.0	288.0	295.0					6																	29141771		2086	4193	6279	-	-	-	SO:0001583	missense	0				CCDS43434.1	6p22.2-p21.31	2012-08-09			ENSG00000204700	ENSG00000204700		"""GPCR / Class A : Olfactory receptors"""	8260	protein-coding gene	gene with protein product							Standard	NM_030905		Approved	OR6-8, hs6M1-6, dJ80I19.4	uc011dlm.2	O76002	OTTHUMG00000031091	ENST00000377167.2:c.359C>T	6.37:g.29141771C>T	ENSP00000366372:p.Ser120Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NCU9|A6NLD0|B0UY53|Q32N09|Q5ST39|Q5SUJ6|Q6IF24|Q9GZK2|Q9GZL3	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.S120L	ENST00000377167.2	37	c.359	CCDS43434.1	6	.	.	.	.	.	.	.	.	.	.	C	14.08	2.427262	0.43122	.	.	ENSG00000204700	ENST00000377167	T	0.52526	0.66	2.3	2.3	0.28687	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.58680	0.2139	M	0.93328	3.405	0.40894	D	0.98409	P	0.52316	0.952	P	0.52672	0.706	T	0.70952	-0.4732	9	0.87932	D	0	.	11.4287	0.50027	0.0:1.0:0.0:0.0	.	120	O76002	OR2J2_HUMAN	L	120	ENSP00000366372:S120L	ENSP00000366372:S120L	S	+	2	0	OR2J2	29249750	0.996000	0.38824	1.000000	0.80357	0.208000	0.24298	3.987000	0.56944	1.265000	0.44215	0.205000	0.17691	TCA	OR2J2	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000204700		0.483	OR2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2J2	HGNC	protein_coding	OTTHUMT00000076131.2	151	0.00	0	C			29141771	29141771	+1	no_errors	ENST00000377167	ensembl	human	known	69_37n	missense	122	29.89	52	SNP	1.000	T
OR2K2	26248	genome.wustl.edu	37	9	114089923	114089923	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:114089923G>C	ENST00000374428.1	-	1	877	c.878C>G	c.(877-879)tCa>tGa	p.S293*	OR2K2_ENST00000302681.1_Nonsense_Mutation_p.S264*			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	293						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						TTGTGCATTTGATGAAGAAGG	0.403																																						dbGAP											0													124.0	122.0	123.0					9																	114089923		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			X64977	CCDS6778.1	9q31.3	2012-08-09			ENSG00000171133	ENSG00000171133		"""GPCR / Class A : Olfactory receptors"""	8264	protein-coding gene	gene with protein product				OR2AR1P		1370859, 17010214	Standard	NM_205859		Approved	HTPCRH06, HSHTPCRH06	uc011lwp.2	Q8NGT1	OTTHUMG00000020488	ENST00000374428.1:c.878C>G	9.37:g.114089923G>C	ENSP00000363550:p.Ser293*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2TA61|Q5VYK4|Q6IFI5	Nonsense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.S293*	ENST00000374428.1	37	c.878		9	.	.	.	.	.	.	.	.	.	.	G	11.86	1.763369	0.31228	.	.	ENSG00000171133	ENST00000302681;ENST00000374428	.	.	.	4.55	3.65	0.41850	.	0.777035	0.10465	U	0.671448	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	10.5913	0.45310	0.0952:0.0:0.9048:0.0	.	.	.	.	X	264;293	.	ENSP00000305055:S264X	S	-	2	0	OR2K2	113129744	0.000000	0.05858	0.978000	0.43139	0.390000	0.30446	-0.166000	0.09954	1.271000	0.44313	0.591000	0.81541	TCA	OR2K2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000171133		0.403	OR2K2-201	KNOWN	basic	protein_coding	OR2K2	HGNC	protein_coding		136	0.00	0	G	NM_205859		114089923	114089923	-1	no_errors	ENST00000374428	ensembl	human	known	69_37n	nonsense	123	18.00	27	SNP	0.171	C
OR2M5	127059	genome.wustl.edu	37	1	248309124	248309124	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:248309124C>G	ENST00000366476.1	+	1	675	c.675C>G	c.(673-675)gtC>gtG	p.V225V		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	225						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(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	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;0.0388)			TTCTGGCTGTCATTCACATGG	0.423																																						dbGAP											0													281.0	269.0	273.0					1																	248309124		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"""GPCR / Class A : Olfactory receptors"""	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.675C>G	1.37:g.248309124C>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.V225	ENST00000366476.1	37	c.675	CCDS31105.1	1																																																																																			OR2M5	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000162727		0.423	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2M5	HGNC	protein_coding	OTTHUMT00000097343.1	210	0.00	0	C	NM_001004690		248309124	248309124	+1	no_errors	ENST00000366476	ensembl	human	known	69_37n	silent	233	16.73	47	SNP	0.000	G
OR2T10	127069	genome.wustl.edu	37	1	248756692	248756692	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:248756692G>C	ENST00000330500.2	-	1	408	c.378C>G	c.(376-378)atC>atG	p.I126M	Y_RNA_ENST00000364732.1_RNA	NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	126						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	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)			GAGGATGGCAGATAGCCACAT	0.567																																						dbGAP											0													99.0	104.0	102.0					1																	248756692		2046	4236	6282	-	-	-	SO:0001583	missense	0				CCDS31121.1	1q44	2012-08-09			ENSG00000184022	ENSG00000184022		"""GPCR / Class A : Olfactory receptors"""	19573	protein-coding gene	gene with protein product							Standard	NM_001004693		Approved		uc010pzn.2	Q8NGZ9	OTTHUMG00000040388	ENST00000330500.2:c.378C>G	1.37:g.248756692G>C	ENSP00000329210:p.Ile126Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNK7	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.I126M	ENST00000330500.2	37	c.378	CCDS31121.1	1	.	.	.	.	.	.	.	.	.	.	.	8.322	0.824548	0.16678	.	.	ENSG00000184022	ENST00000330500	T	0.59083	0.29	2.35	-0.0136	0.13983	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.72036	0.3411	H	0.96889	3.9	0.21822	N	0.999525	P	0.50943	0.94	P	0.50860	0.652	T	0.63739	-0.6569	9	0.87932	D	0	.	3.1504	0.06485	0.3214:0.0:0.4686:0.2099	.	126	Q8NGZ9	O2T10_HUMAN	M	126	ENSP00000329210:I126M	ENSP00000329210:I126M	I	-	3	3	OR2T10	246823315	0.924000	0.31332	0.612000	0.29024	0.091000	0.18340	-0.238000	0.08977	0.180000	0.19960	0.447000	0.29281	ATC	OR2T10	-	pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000184022		0.567	OR2T10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T10	HGNC	protein_coding	OTTHUMT00000097139.1	88	0.00	0	G	NM_001004693		248756692	248756692	-1	no_errors	ENST00000330500	ensembl	human	known	69_37n	missense	122	14.69	21	SNP	0.999	C
OR2T12	127064	genome.wustl.edu	37	1	248458516	248458516	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:248458516G>C	ENST00000317996.1	-	1	364	c.365C>G	c.(364-366)gCg>gGg	p.A122G		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	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;0.0201)			GCAGACAGCCGCATAGCGGTC	0.617																																						dbGAP											0													8.0	9.0	9.0					1																	248458516		2141	4210	6351	-	-	-	SO:0001583	missense	0			BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"""GPCR / Class A : Olfactory receptors"""	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.365C>G	1.37:g.248458516G>C	ENSP00000324583:p.Ala122Gly	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.A122G	ENST00000317996.1	37	c.365	CCDS31110.1	1	.	.	.	.	.	.	.	.	.	.	a	7.208	0.594805	0.13875	.	.	ENSG00000177201	ENST00000317996	T	0.02158	4.42	1.55	0.224	0.15297	GPCR, rhodopsin-like superfamily (1);	0.549627	0.13490	U	0.384078	T	0.04048	0.0113	M	0.70108	2.13	0.09310	N	1	B	0.23442	0.085	B	0.28553	0.091	T	0.31308	-0.9948	10	0.87932	D	0	.	7.7972	0.29154	0.8581:0.0:0.1419:0.0	.	122	Q8NG77	O2T12_HUMAN	G	122	ENSP00000324583:A122G	ENSP00000324583:A122G	A	-	2	0	OR2T12	246525139	0.006000	0.16342	0.017000	0.16124	0.061000	0.15899	2.270000	0.43355	-1.382000	0.02109	-1.360000	0.01215	GCG	OR2T12	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000177201		0.617	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T12	HGNC	protein_coding	OTTHUMT00000097353.1	77	0.00	0	G	NM_001004692		248458516	248458516	-1	no_errors	ENST00000317996	ensembl	human	known	69_37n	missense	100	27.54	38	SNP	0.137	C
OR2T10	127069	genome.wustl.edu	37	1	248757016	248757016	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:248757016G>A	ENST00000330500.2	-	1	84	c.54C>T	c.(52-54)ttC>ttT	p.F18F	Y_RNA_ENST00000364732.1_RNA	NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	18						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	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)			AGATCTGGCTGAAGATTCCCA	0.473																																						dbGAP											0													30.0	33.0	32.0					1																	248757016		2040	4229	6269	-	-	-	SO:0001819	synonymous_variant	0				CCDS31121.1	1q44	2012-08-09			ENSG00000184022	ENSG00000184022		"""GPCR / Class A : Olfactory receptors"""	19573	protein-coding gene	gene with protein product							Standard	NM_001004693		Approved		uc010pzn.2	Q8NGZ9	OTTHUMG00000040388	ENST00000330500.2:c.54C>T	1.37:g.248757016G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNK7	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.F18	ENST00000330500.2	37	c.54	CCDS31121.1	1																																																																																			OR2T10	-	NULL	ENSG00000184022		0.473	OR2T10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T10	HGNC	protein_coding	OTTHUMT00000097139.1	13	0.00	0	G	NM_001004693		248757016	248757016	-1	no_errors	ENST00000330500	ensembl	human	known	69_37n	silent	11	31.25	5	SNP	0.000	A
OR2V1	26693	genome.wustl.edu	37	5	180551652	180551652	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:180551652G>C	ENST00000329365.2	-	1	652	c.653C>G	c.(652-654)tCc>tGc	p.S218C		NM_001258283.1	NP_001245212.1	Q8NHB1	OR2V1_HUMAN	olfactory receptor, family 2, subfamily V, member 1	218						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			lung(4)	4						GCAAGCATAGGAGGCCATGAT	0.542																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AB065465	CCDS58992.1	5q35.3	2012-08-09		2004-03-10	ENSG00000185372	ENSG00000185372		"""GPCR / Class A : Olfactory receptors"""	8280	protein-coding gene	gene with protein product				OR2V1P			Standard	NM_001258283		Approved	OST265	uc031smg.1	Q8NHB1	OTTHUMG00000162118	ENST00000329365.2:c.653C>G	5.37:g.180551652G>C	ENSP00000404102:p.Ser218Cys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.S218C	ENST00000329365.2	37	c.653	CCDS58992.1	5	.	.	.	.	.	.	.	.	.	.	.	14.67	2.604134	0.46423	.	.	ENSG00000185372	ENST00000329365	T	0.38722	1.12	5.08	5.08	0.68730	.	.	.	.	.	T	0.60170	0.2248	.	.	.	0.40577	D	0.981351	.	.	.	.	.	.	T	0.64993	-0.6276	6	0.87932	D	0	.	16.0181	0.80457	0.0:0.0:1.0:0.0	.	.	.	.	C	218	ENSP00000404102:S218C	ENSP00000404102:S218C	S	-	2	0	OR2V1	180484258	0.979000	0.34478	0.997000	0.53966	0.026000	0.11368	2.796000	0.47869	2.638000	0.89438	0.511000	0.50034	TCC	OR2V1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000185372		0.542	OR2V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2V1	HGNC	protein_coding	OTTHUMT00000367367.1	57	0.00	0	G			180551652	180551652	-1	no_errors	ENST00000329365	ensembl	human	known	69_37n	missense	40	21.57	11	SNP	1.000	C
OR3A2	4995	genome.wustl.edu	37	17	3181519	3181519	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:3181519G>A	ENST00000408891.2	-	1	749	c.711C>T	c.(709-711)atC>atT	p.I237I	RP11-64J4.2_ENST00000573491.1_RNA	NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A, member 2	237					sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|receptor activity (GO:0004872)			ovary(1)	1						CCACTGAACGGATTCGTAGAA	0.522																																					GBM(166;478 2018 3875 5042 31983)|Esophageal Squamous(77;407 1232 1405 14297 15272)	dbGAP											0													52.0	54.0	53.0					17																	3181519		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U04713	CCDS42233.1	17p13.3	2012-08-09				ENSG00000221882		"""GPCR / Class A : Olfactory receptors"""	8283	protein-coding gene	gene with protein product						8921386, 10673334	Standard	NM_002551		Approved	OLFRA04, OR228, OR17-228	uc002fvg.3	P47893		ENST00000408891.2:c.711C>T	17.37:g.3181519G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFM3|Q9P1Q3	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.I237	ENST00000408891.2	37	c.711	CCDS42233.1	17																																																																																			OR3A2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000221882		0.522	OR3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR3A2	HGNC	protein_coding	OTTHUMT00000438370.1	40	0.00	0	G			3181519	3181519	-1	no_errors	ENST00000408891	ensembl	human	known	69_37n	silent	43	24.56	14	SNP	0.000	A
OR3A2	4995	genome.wustl.edu	37	17	3181564	3181564	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:3181564G>A	ENST00000408891.2	-	1	704	c.666C>T	c.(664-666)ctC>ctT	p.L222L	RP11-64J4.2_ENST00000573491.1_RNA	NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A, member 2	222					sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|receptor activity (GO:0004872)			ovary(1)	1						CAGTGATGATGAGAACCAAAG	0.572																																					GBM(166;478 2018 3875 5042 31983)|Esophageal Squamous(77;407 1232 1405 14297 15272)	dbGAP											0													67.0	65.0	66.0					17																	3181564		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U04713	CCDS42233.1	17p13.3	2012-08-09				ENSG00000221882		"""GPCR / Class A : Olfactory receptors"""	8283	protein-coding gene	gene with protein product						8921386, 10673334	Standard	NM_002551		Approved	OLFRA04, OR228, OR17-228	uc002fvg.3	P47893		ENST00000408891.2:c.666C>T	17.37:g.3181564G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFM3|Q9P1Q3	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.L222	ENST00000408891.2	37	c.666	CCDS42233.1	17																																																																																			OR3A2	-	pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000221882		0.572	OR3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR3A2	HGNC	protein_coding	OTTHUMT00000438370.1	57	0.00	0	G			3181564	3181564	-1	no_errors	ENST00000408891	ensembl	human	known	69_37n	silent	59	21.33	16	SNP	1.000	A
OR4C12	283093	genome.wustl.edu	37	11	50003840	50003840	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:50003840C>G	ENST00000335238.4	-	1	231	c.198G>C	c.(196-198)ttG>ttC	p.L66F		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	66						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						CTGTGTCTATCAAAGAAAGGT	0.438																																						dbGAP											0													62.0	65.0	64.0					11																	50003840		2201	4296	6497	-	-	-	SO:0001583	missense	0			BK004413	CCDS31496.1	11p11.12	2012-08-09			ENSG00000221954	ENSG00000221954		"""GPCR / Class A : Olfactory receptors"""	15168	protein-coding gene	gene with protein product							Standard	NM_001005270		Approved		uc010ria.2	Q96R67	OTTHUMG00000166687	ENST00000335238.4:c.198G>C	11.37:g.50003840C>G	ENSP00000334418:p.Leu66Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNF0|Q6IF49	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.L66F	ENST00000335238.4	37	c.198	CCDS31496.1	11	.	.	.	.	.	.	.	.	.	.	.	0.023	-1.397052	0.01175	.	.	ENSG00000221954	ENST00000335238	T	0.00363	7.82	3.31	-0.432	0.12291	GPCR, rhodopsin-like superfamily (1);	0.685907	0.11946	N	0.514183	T	0.00109	0.0003	N	0.01631	-0.79	0.27107	N	0.962487	B	0.02656	0.0	B	0.04013	0.001	T	0.20773	-1.0265	10	0.02654	T	1	.	7.0733	0.25191	0.174:0.33:0.496:0.0	.	66	Q96R67	OR4CC_HUMAN	F	66	ENSP00000334418:L66F	ENSP00000334418:L66F	L	-	3	2	OR4C12	49960416	0.000000	0.05858	0.354000	0.25760	0.980000	0.70556	-1.138000	0.03216	0.170000	0.19704	0.398000	0.26397	TTG	OR4C12	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000221954		0.438	OR4C12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C12	HGNC	protein_coding	OTTHUMT00000391104.1	66	0.00	0	C	NM_001005270		50003840	50003840	-1	no_errors	ENST00000335238	ensembl	human	known	69_37n	missense	62	11.43	8	SNP	0.653	G
OR4C12	283093	genome.wustl.edu	37	11	50003881	50003881	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:50003881G>C	ENST00000335238.4	-	1	190	c.157C>G	c.(157-159)Ctg>Gtg	p.L53V		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	53						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						GGGGAGCTCAGAGCCTGGCTG	0.418																																						dbGAP											0													66.0	68.0	67.0					11																	50003881		2201	4296	6497	-	-	-	SO:0001583	missense	0			BK004413	CCDS31496.1	11p11.12	2012-08-09			ENSG00000221954	ENSG00000221954		"""GPCR / Class A : Olfactory receptors"""	15168	protein-coding gene	gene with protein product							Standard	NM_001005270		Approved		uc010ria.2	Q96R67	OTTHUMG00000166687	ENST00000335238.4:c.157C>G	11.37:g.50003881G>C	ENSP00000334418:p.Leu53Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNF0|Q6IF49	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.L53V	ENST00000335238.4	37	c.157	CCDS31496.1	11	.	.	.	.	.	.	.	.	.	.	.	10.65	1.410420	0.25465	.	.	ENSG00000221954	ENST00000335238	T	0.14022	2.54	3.31	2.38	0.29361	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33834	U	0.004509	T	0.32102	0.0818	H	0.98786	4.33	0.09310	N	1	B	0.30439	0.279	B	0.34242	0.178	T	0.43523	-0.9386	10	0.87932	D	0	.	5.4953	0.16799	0.2638:0.0:0.7362:0.0	.	53	Q96R67	OR4CC_HUMAN	V	53	ENSP00000334418:L53V	ENSP00000334418:L53V	L	-	1	2	OR4C12	49960457	1.000000	0.71417	0.017000	0.16124	0.984000	0.73092	5.686000	0.68211	0.740000	0.32651	0.398000	0.26397	CTG	OR4C12	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000221954		0.418	OR4C12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C12	HGNC	protein_coding	OTTHUMT00000391104.1	69	0.00	0	G	NM_001005270		50003881	50003881	-1	no_errors	ENST00000335238	ensembl	human	known	69_37n	missense	46	33.33	23	SNP	0.202	C
OR4D11	219986	genome.wustl.edu	37	11	59271133	59271133	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:59271133C>G	ENST00000313253.1	+	1	85	c.85C>G	c.(85-87)Ctt>Gtt	p.L29V		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	29						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(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						GGTCTTGTTTCTTTTTTTATG	0.433																																						dbGAP											0													103.0	96.0	98.0					11																	59271133		2201	4295	6496	-	-	-	SO:0001583	missense	0			AB065810	CCDS31563.1	11q12.1	2012-08-09		2004-03-10	ENSG00000176200	ENSG00000176200		"""GPCR / Class A : Olfactory receptors"""	15174	protein-coding gene	gene with protein product				OR4D11P			Standard	NM_001004706		Approved		uc001noa.1	Q8NGI4	OTTHUMG00000167342	ENST00000313253.1:c.85C>G	11.37:g.59271133C>G	ENSP00000320077:p.Leu29Val	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.L29V	ENST00000313253.1	37	c.85	CCDS31563.1	11	.	.	.	.	.	.	.	.	.	.	C	0	-2.816889	0.00072	.	.	ENSG00000176200	ENST00000313253	T	0.00418	7.49	5.45	-1.74	0.08056	.	0.332667	0.21503	N	0.073498	T	0.00144	0.0004	N	0.16233	0.39	0.20638	N	0.999875	B	0.02656	0.0	B	0.06405	0.002	T	0.46176	-0.9210	10	0.02654	T	1	-9.7981	2.6212	0.04917	0.2091:0.3651:0.287:0.1389	.	29	Q8NGI4	OR4DB_HUMAN	V	29	ENSP00000320077:L29V	ENSP00000320077:L29V	L	+	1	0	OR4D11	59027709	0.000000	0.05858	0.184000	0.23157	0.091000	0.18340	-1.215000	0.02985	-0.006000	0.14370	-0.311000	0.09066	CTT	OR4D11	-	prints_7TM_GPCR_Rhodpsn	ENSG00000176200		0.433	OR4D11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4D11	HGNC	protein_coding	OTTHUMT00000394236.1	75	0.00	0	C	NM_001004706		59271133	59271133	+1	no_errors	ENST00000313253	ensembl	human	known	69_37n	missense	87	18.69	20	SNP	0.055	G
OR4D9	390199	genome.wustl.edu	37	11	59282894	59282894	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:59282894G>C	ENST00000329328.3	+	1	509	c.509G>C	c.(508-510)gGa>gCa	p.G170A		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	170						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						CCTTTCTGTGGACCCAATGTT	0.527																																						dbGAP											0													140.0	130.0	134.0					11																	59282894		2201	4295	6496	-	-	-	SO:0001583	missense	0			AB065861	CCDS31564.1	11q12.1	2012-08-09	2003-12-15		ENSG00000172742	ENSG00000172742		"""GPCR / Class A : Olfactory receptors"""	15178	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily D, member 9 pseudogene"""				Standard	NM_001004711		Approved		uc010rkv.2	Q8NGE8	OTTHUMG00000167343	ENST00000329328.3:c.509G>C	11.37:g.59282894G>C	ENSP00000328563:p.Gly170Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFF3	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.G170A	ENST00000329328.3	37	c.509	CCDS31564.1	11	.	.	.	.	.	.	.	.	.	.	G	16.72	3.201635	0.58234	.	.	ENSG00000172742	ENST00000329328	T	0.38560	1.13	4.33	4.33	0.51752	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41396	U	0.000897	T	0.61362	0.2341	M	0.73372	2.23	0.09310	N	0.999993	D	0.89917	1.0	D	0.97110	1.0	T	0.54437	-0.8294	10	0.87932	D	0	-3.9129	11.7735	0.51972	0.0:0.1784:0.8216:0.0	.	170	Q8NGE8	OR4D9_HUMAN	A	170	ENSP00000328563:G170A	ENSP00000328563:G170A	G	+	2	0	OR4D9	59039470	0.027000	0.19231	0.991000	0.47740	0.963000	0.63663	1.770000	0.38532	2.102000	0.63906	0.557000	0.71058	GGA	OR4D9	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000172742		0.527	OR4D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4D9	HGNC	protein_coding	OTTHUMT00000394237.1	89	0.00	0	G	NM_001004711		59282894	59282894	+1	no_errors	ENST00000329328	ensembl	human	known	69_37n	missense	94	21.01	25	SNP	0.496	C
OR4F15	390649	genome.wustl.edu	37	15	102358835	102358835	+	Missense_Mutation	SNP	C	C	G	rs61737725	byFrequency	TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:102358835C>G	ENST00000332238.4	+	1	470	c.446C>G	c.(445-447)tCt>tGt	p.S149C		NM_001001674.1	NP_001001674.1	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F, member 15	149						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(1)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			GCCACTTCCTCTATCATTGGC	0.403																																						dbGAP											0													228.0	213.0	218.0					15																	102358835		2203	4300	6503	-	-	-	SO:0001583	missense	0			BK004405	CCDS32342.1	15q26.3	2012-08-09				ENSG00000182854		"""GPCR / Class A : Olfactory receptors"""	15078	protein-coding gene	gene with protein product							Standard	NM_001001674		Approved		uc010uts.2	Q8NGB8		ENST00000332238.4:c.446C>G	15.37:g.102358835C>G	ENSP00000333184:p.Ser149Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNQ5|Q6IF57|Q96R70	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.S149C	ENST00000332238.4	37	c.446	CCDS32342.1	15	.	.	.	.	.	.	.	.	.	.	.	3.548	-0.092271	0.07053	.	.	ENSG00000182854	ENST00000332238	T	0.37058	1.22	5.57	3.72	0.42706	GPCR, rhodopsin-like superfamily (1);	0.225059	0.32357	N	0.006217	T	0.08447	0.0210	N	0.00289	-1.7	0.24849	N	0.992414	B	0.02656	0.0	B	0.01281	0.0	T	0.30238	-0.9985	9	.	.	.	.	8.5679	0.33552	0.0:0.1528:0.5419:0.3053	.	149	Q8NGB8	O4F15_HUMAN	C	149	ENSP00000333184:S149C	.	S	+	2	0	OR4F15	100176358	0.134000	0.22483	0.015000	0.15790	0.000000	0.00434	0.417000	0.21214	0.923000	0.37045	-0.839000	0.03059	TCT	OR4F15	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000182854		0.403	OR4F15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4F15	HGNC	protein_coding	OTTHUMT00000417594.1	189	0.00	0	C	NM_001001674		102358835	102358835	+1	no_errors	ENST00000332238	ensembl	human	known	69_37n	missense	139	25.67	48	SNP	0.597	G
OR4K14	122740	genome.wustl.edu	37	14	20482895	20482895	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:20482895C>T	ENST00000305045.2	-	1	457	c.458G>A	c.(457-459)gGa>gAa	p.G153E		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	153						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GTGCACAAATCCAACGACCCA	0.488																																						dbGAP											0													74.0	73.0	73.0					14																	20482895		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS32027.1	14q11.2	2013-09-23			ENSG00000169484	ENSG00000169484		"""GPCR / Class A : Olfactory receptors"""	15352	protein-coding gene	gene with protein product							Standard	NM_001004712		Approved		uc010tky.2	Q8NGD5	OTTHUMG00000170780	ENST00000305045.2:c.458G>A	14.37:g.20482895C>T	ENSP00000305011:p.Gly153Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IEU1|Q96R71	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.G153E	ENST00000305045.2	37	c.458	CCDS32027.1	14	.	.	.	.	.	.	.	.	.	.	.	16.58	3.162332	0.57368	.	.	ENSG00000169484	ENST00000305045	T	0.40756	1.02	4.04	4.04	0.47022	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44097	D	0.000484	T	0.79458	0.4449	H	0.99404	4.55	0.26328	N	0.977563	D	0.89917	1.0	D	0.87578	0.998	T	0.78628	-0.2130	10	0.87932	D	0	.	15.1214	0.72447	0.0:1.0:0.0:0.0	.	153	Q8NGD5	OR4KE_HUMAN	E	153	ENSP00000305011:G153E	ENSP00000305011:G153E	G	-	2	0	OR4K14	19552735	0.015000	0.18098	0.998000	0.56505	0.894000	0.52154	1.732000	0.38146	2.086000	0.62901	0.505000	0.49811	GGA	OR4K14	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000169484		0.488	OR4K14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4K14	HGNC	protein_coding	OTTHUMT00000410343.1	58	0.00	0	C			20482895	20482895	-1	no_errors	ENST00000305045	ensembl	human	known	69_37n	missense	64	12.33	9	SNP	0.911	T
OR4M2	390538	genome.wustl.edu	37	15	22368953	22368953	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:22368953C>T	ENST00000332663.2	+	1	476	c.378C>T	c.(376-378)atC>atT	p.I126I	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	126						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ACACTGCTATCTGCCGACCCC	0.502																																						dbGAP											0													291.0	242.0	258.0					15																	22368953		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"""GPCR / Class A : Olfactory receptors"""	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.378C>T	15.37:g.22368953C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B9EH16|Q6IEY2	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.I126	ENST00000332663.2	37	c.378	CCDS32172.1	15																																																																																			OR4M2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000182974		0.502	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	OR4M2	HGNC	protein_coding	OTTHUMT00000414921.1	506	0.00	0	C			22368953	22368953	+1	no_errors	ENST00000332663	ensembl	human	known	69_37n	silent	429	17.50	91	SNP	1.000	T
OR52R1	119695	genome.wustl.edu	37	11	4825279	4825279	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:4825279G>A	ENST00000356069.2	-	1	331	c.332C>T	c.(331-333)tCt>tTt	p.S111F	OR52R1_ENST00000380382.1_Missense_Mutation_p.S190F|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005177.3	NP_001005177.3	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	111						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTCCACAGAAGAAAAGGCATG	0.527																																						dbGAP											0													142.0	131.0	135.0					11																	4825279		2201	4298	6499	-	-	-	SO:0001583	missense	0			BK004282	CCDS31360.1, CCDS31360.2	11p15.4	2012-08-09			ENSG00000176937	ENSG00000176937		"""GPCR / Class A : Olfactory receptors"""	15235	protein-coding gene	gene with protein product							Standard	NM_001005177		Approved		uc021qcs.1	Q8NGF1	OTTHUMG00000066510	ENST00000356069.2:c.332C>T	11.37:g.4825279G>A	ENSP00000348368:p.Ser111Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFI0	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.S190F	ENST00000356069.2	37	c.569	CCDS31360.2	11	.	.	.	.	.	.	.	.	.	.	G	12.13	1.844565	0.32606	.	.	ENSG00000176937	ENST00000356069;ENST00000380382	T;T	0.00408	7.54;7.54	5.42	4.51	0.55191	GPCR, rhodopsin-like superfamily (1);	0.636132	0.13867	N	0.357264	T	0.00412	0.0013	N	0.17312	0.475	0.18873	N	0.999986	P	0.48998	0.918	P	0.50896	0.653	T	0.71097	-0.4691	10	0.28530	T	0.3	.	15.2522	0.73556	0.0:0.1409:0.8591:0.0	.	111	Q8NGF1	O52R1_HUMAN	F	111;190	ENSP00000348368:S111F;ENSP00000369742:S190F	ENSP00000348368:S111F	S	-	2	0	OR52R1	4781855	0.000000	0.05858	0.979000	0.43373	0.368000	0.29767	-0.089000	0.11180	1.540000	0.49301	-0.133000	0.14855	TCT	OR52R1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000176937		0.527	OR52R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52R1	HGNC	protein_coding	OTTHUMT00000142183.1	77	0.00	0	G	NM_001005177		4825279	4825279	-1	no_errors	ENST00000380382	ensembl	human	known	69_37n	missense	94	22.31	27	SNP	0.344	A
OR52R1	119695	genome.wustl.edu	37	11	4825378	4825378	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:4825378G>T	ENST00000356069.2	-	1	232	c.233C>A	c.(232-234)tCc>tAc	p.S78Y	OR52R1_ENST00000380382.1_Missense_Mutation_p.S157Y|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005177.3	NP_001005177.3	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	78						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGAGTGGAGGAGGAGAGGAC	0.488																																						dbGAP											0													123.0	108.0	113.0					11																	4825378		2201	4298	6499	-	-	-	SO:0001583	missense	0			BK004282	CCDS31360.1, CCDS31360.2	11p15.4	2012-08-09			ENSG00000176937	ENSG00000176937		"""GPCR / Class A : Olfactory receptors"""	15235	protein-coding gene	gene with protein product							Standard	NM_001005177		Approved		uc021qcs.1	Q8NGF1	OTTHUMG00000066510	ENST00000356069.2:c.233C>A	11.37:g.4825378G>T	ENSP00000348368:p.Ser78Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFI0	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.S157Y	ENST00000356069.2	37	c.470	CCDS31360.2	11	.	.	.	.	.	.	.	.	.	.	G	17.98	3.519770	0.64634	.	.	ENSG00000176937	ENST00000356069;ENST00000380382	T;T	0.00408	7.54;7.54	5.57	4.65	0.58169	GPCR, rhodopsin-like superfamily (1);	0.467249	0.18114	N	0.151265	T	0.01222	0.0040	H	0.96460	3.825	0.09310	N	1	D	0.53462	0.96	P	0.53313	0.723	T	0.26360	-1.0105	10	0.87932	D	0	.	8.6789	0.34196	0.0779:0.0:0.7722:0.1499	.	78	Q8NGF1	O52R1_HUMAN	Y	78;157	ENSP00000348368:S78Y;ENSP00000369742:S157Y	ENSP00000348368:S78Y	S	-	2	0	OR52R1	4781954	0.849000	0.29639	0.994000	0.49952	0.989000	0.77384	4.451000	0.60047	2.902000	0.99343	0.650000	0.86243	TCC	OR52R1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000176937		0.488	OR52R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52R1	HGNC	protein_coding	OTTHUMT00000142183.1	105	0.00	0	G	NM_001005177		4825378	4825378	-1	no_errors	ENST00000380382	ensembl	human	known	69_37n	missense	106	15.87	20	SNP	0.112	T
OR52J3	119679	genome.wustl.edu	37	11	5068502	5068502	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:5068502C>T	ENST00000380370.1	+	1	747	c.747C>T	c.(745-747)atC>atT	p.I249I		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	249						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)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGGAGTCATCTGTGTTTTCT	0.443																																						dbGAP											0													306.0	273.0	284.0					11																	5068502		2201	4298	6499	-	-	-	SO:0001819	synonymous_variant	0			AB065530	CCDS31370.1	11p15.4	2012-08-09			ENSG00000205495	ENSG00000205495		"""GPCR / Class A : Olfactory receptors"""	14799	protein-coding gene	gene with protein product							Standard	NM_001001916		Approved		uc010qyv.2	Q8NH60	OTTHUMG00000066600	ENST00000380370.1:c.747C>T	11.37:g.5068502C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFE4	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.I249	ENST00000380370.1	37	c.747	CCDS31370.1	11																																																																																			OR52J3	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000205495		0.443	OR52J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52J3	HGNC	protein_coding	OTTHUMT00000142807.1	201	0.00	0	C	NM_001001916		5068502	5068502	+1	no_errors	ENST00000380370	ensembl	human	known	69_37n	silent	183	16.06	35	SNP	0.002	T
OR51B4	79339	genome.wustl.edu	37	11	5322877	5322877	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:5322877G>A	ENST00000380224.1	-	1	349	c.300C>T	c.(298-300)ttC>ttT	p.F100F	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	100					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.F100L(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGAATGAATGAAGGATTGGG	0.493																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											152.0	138.0	143.0					11																	5322877		2201	4297	6498	-	-	-	SO:0001819	synonymous_variant	0			BC069094	CCDS7757.1	11p15.4	2012-08-09			ENSG00000183251	ENSG00000183251		"""GPCR / Class A : Olfactory receptors"""	14708	protein-coding gene	gene with protein product							Standard	NM_033179		Approved		uc010qza.2	Q9Y5P0	OTTHUMG00000066665	ENST00000380224.1:c.300C>T	11.37:g.5322877G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A7MAV5|Q6NTD7	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.F100	ENST00000380224.1	37	c.300	CCDS7757.1	11																																																																																			OR51B4	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000183251		0.493	OR51B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51B4	HGNC	protein_coding	OTTHUMT00000142956.2	94	0.00	0	G	NM_033179		5322877	5322877	-1	no_errors	ENST00000380224	ensembl	human	known	69_37n	silent	67	47.24	60	SNP	0.678	A
OR52H1	390067	genome.wustl.edu	37	11	5566226	5566226	+	Missense_Mutation	SNP	G	G	C	rs35658346		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:5566226G>C	ENST00000322653.4	-	1	553	c.528C>G	c.(526-528)ttC>ttG	p.F176L	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1	176						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGTCCTGCAGAAAGGCAGGC	0.493																																						dbGAP											0													107.0	90.0	96.0					11																	5566226		2201	4297	6498	-	-	-	SO:0001583	missense	0			AB065802	CCDS31386.1	11p15.4	2012-08-09			ENSG00000181616	ENSG00000181616		"""GPCR / Class A : Olfactory receptors"""	15218	protein-coding gene	gene with protein product							Standard	NM_001005289		Approved		uc010qzh.2	Q8NGJ2	OTTHUMG00000066909	ENST00000322653.4:c.528C>G	11.37:g.5566226G>C	ENSP00000326259:p.Phe176Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EH26|Q6IF79	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.F176L	ENST00000322653.4	37	c.528	CCDS31386.1	11	.	.	.	.	.	.	.	.	.	.	G	14.82	2.650077	0.47362	.	.	ENSG00000181616	ENST00000322653	T	0.00039	8.85	5.37	4.41	0.53225	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000003	T	0.00412	0.0013	M	0.82517	2.595	0.32292	N	0.566208	D	0.89917	1.0	D	0.91635	0.999	T	0.40251	-0.9573	10	0.87932	D	0	.	5.4197	0.16394	0.1883:0.1636:0.6481:0.0	.	176	Q8NGJ2	O52H1_HUMAN	L	176	ENSP00000326259:F176L	ENSP00000326259:F176L	F	-	3	2	OR52H1	5522802	0.626000	0.27120	1.000000	0.80357	0.432000	0.31715	0.498000	0.22530	1.169000	0.42739	-0.355000	0.07637	TTC	OR52H1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000181616		0.493	OR52H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52H1	HGNC	protein_coding	OTTHUMT00000143400.1	37	0.00	0	G	NM_001005289		5566226	5566226	-1	no_errors	ENST00000322653	ensembl	human	known	69_37n	missense	62	15.07	11	SNP	1.000	C
OR56A3	390083	genome.wustl.edu	37	11	5968729	5968729	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:5968729G>A	ENST00000329564.6	+	1	160	c.153G>A	c.(151-153)atG>atA	p.M51I	AC025016.1_ENST00000528915.1_lincRNA	NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	51			M -> T (in dbSNP:rs1840178).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCTCCTGATGACCATCTGGC	0.607																																						dbGAP											0													122.0	122.0	122.0					11																	5968729		2201	4296	6497	-	-	-	SO:0001583	missense	0				CCDS41614.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184478	ENSG00000184478		"""GPCR / Class A : Olfactory receptors"""	14786	protein-coding gene	gene with protein product				OR56A6, OR56A3P			Standard	NM_001003443		Approved		uc010qzt.2	Q8NH54	OTTHUMG00000165373	ENST00000329564.6:c.153G>A	11.37:g.5968729G>A	ENSP00000331572:p.Met51Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NN77|Q6IFF7	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.M51I	ENST00000329564.6	37	c.153	CCDS41614.1	11	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.449510	0.00175	.	.	ENSG00000184478	ENST00000329564	T	0.01947	4.54	5.12	1.14	0.20703	GPCR, rhodopsin-like superfamily (1);	0.660669	0.14262	N	0.330710	T	0.00695	0.0023	N	0.00237	-1.79	0.19575	N	0.999967	B	0.02656	0.0	B	0.01281	0.0	T	0.47623	-0.9103	10	0.62326	D	0.03	-22.7094	4.9901	0.14209	0.0:0.4714:0.2888:0.2397	.	51	Q8NH54	O56A3_HUMAN	I	51	ENSP00000331572:M51I	ENSP00000331572:M51I	M	+	3	0	OR56A3	5925305	0.000000	0.05858	0.955000	0.39395	0.007000	0.05969	-0.350000	0.07721	0.065000	0.16485	-1.952000	0.00485	ATG	OR56A3	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000184478		0.607	OR56A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	OR56A3	HGNC	protein_coding	OTTHUMT00000383753.1	102	0.00	0	G	NM_001003443		5968729	5968729	+1	no_errors	ENST00000329564	ensembl	human	known	69_37n	missense	86	40.69	59	SNP	0.803	A
OR52L1	338751	genome.wustl.edu	37	11	6007810	6007810	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:6007810G>C	ENST00000332249.4	-	1	405	c.351C>G	c.(349-351)atC>atG	p.I117M		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAACATCTGGATCAGGCAGA	0.542																																					Melanoma(121;653 1666 10547 22796 51255)	dbGAP											0													60.0	61.0	60.0					11																	6007810		2124	4257	6381	-	-	-	SO:0001583	missense	0			AB065819	CCDS44529.1	11p15.4	2012-08-09			ENSG00000183313	ENSG00000183313		"""GPCR / Class A : Olfactory receptors"""	14785	protein-coding gene	gene with protein product							Standard	NM_001005173		Approved		uc001mcd.2	Q8NGH7	OTTHUMG00000165374	ENST00000332249.4:c.351C>G	11.37:g.6007810G>C	ENSP00000330338:p.Ile117Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPA6|Q6IFK9	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.I117M	ENST00000332249.4	37	c.351	CCDS44529.1	11	.	.	.	.	.	.	.	.	.	.	G	9.264	1.043990	0.19748	.	.	ENSG00000183313	ENST00000332249	T	0.03094	4.05	3.5	-0.359	0.12571	GPCR, rhodopsin-like superfamily (1);	0.589869	0.14030	N	0.346181	T	0.03564	0.0102	L	0.41356	1.27	0.09310	N	1	P	0.43169	0.8	B	0.41723	0.365	T	0.38112	-0.9676	10	0.87932	D	0	.	4.3619	0.11206	0.5195:0.1787:0.3017:0.0	.	117	Q8NGH7	O52L1_HUMAN	M	117	ENSP00000330338:I117M	ENSP00000330338:I117M	I	-	3	3	OR52L1	5964386	0.000000	0.05858	0.922000	0.36590	0.633000	0.38033	-4.781000	0.00186	-0.044000	0.13491	0.313000	0.20887	ATC	OR52L1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000183313		0.542	OR52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52L1	HGNC	protein_coding	OTTHUMT00000383754.1	55	0.00	0	G	NM_001005173		6007810	6007810	-1	no_errors	ENST00000332249	ensembl	human	known	69_37n	missense	69	18.82	16	SNP	0.020	C
OR4X1	390113	genome.wustl.edu	37	11	48285505	48285505	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:48285505C>G	ENST00000320048.1	+	1	93	c.93C>G	c.(91-93)ctC>ctG	p.L31L		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	31						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						TGTTTCTCCTCATGTACACAG	0.438																																						dbGAP											0													174.0	158.0	164.0					11																	48285505		2201	4298	6499	-	-	-	SO:0001819	synonymous_variant	0			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.93C>G	11.37:g.48285505C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IF74	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.L31	ENST00000320048.1	37	c.93	CCDS31487.1	11																																																																																			OR4X1	-	prints_7TM_GPCR_Rhodpsn	ENSG00000176567		0.438	OR4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4X1	HGNC	protein_coding	OTTHUMT00000383373.1	182	0.00	0	C	NM_001004726		48285505	48285505	+1	no_errors	ENST00000320048	ensembl	human	known	69_37n	silent	262	18.83	61	SNP	0.863	G
OR4S1	256148	genome.wustl.edu	37	11	48327992	48327992	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:48327992C>G	ENST00000319988.1	+	1	218	c.218C>G	c.(217-219)tCc>tGc	p.S73C		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	73						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						TGTTATCCATCCACTACCATA	0.443																																						dbGAP											0													172.0	141.0	152.0					11																	48327992		2201	4287	6488	-	-	-	SO:0001583	missense	0			AB065908	CCDS31488.1	11p11.2	2012-08-09			ENSG00000176555	ENSG00000176555		"""GPCR / Class A : Olfactory receptors"""	14705	protein-coding gene	gene with protein product							Standard	NM_001004725		Approved		uc010rhu.2	Q8NGB4	OTTHUMG00000166578	ENST00000319988.1:c.218C>G	11.37:g.48327992C>G	ENSP00000321447:p.Ser73Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFB4	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.S73C	ENST00000319988.1	37	c.218	CCDS31488.1	11	.	.	.	.	.	.	.	.	.	.	C	12.51	1.959475	0.34565	.	.	ENSG00000176555	ENST00000319988	T	0.00350	7.98	5.02	4.1	0.47936	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00440	0.0014	M	0.86268	2.805	0.09310	N	0.999995	B	0.22604	0.072	B	0.23018	0.043	T	0.32481	-0.9905	9	0.59425	D	0.04	.	11.7479	0.51830	0.0:0.9118:0.0:0.0882	.	73	Q8NGB4	OR4S1_HUMAN	C	73	ENSP00000321447:S73C	ENSP00000321447:S73C	S	+	2	0	OR4S1	48284568	0.040000	0.19996	0.020000	0.16555	0.007000	0.05969	2.556000	0.45862	1.239000	0.43787	0.655000	0.94253	TCC	OR4S1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000176555		0.443	OR4S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4S1	HGNC	protein_coding	OTTHUMT00000390556.1	154	0.00	0	C	NM_001004725		48327992	48327992	+1	no_errors	ENST00000319988	ensembl	human	known	69_37n	missense	212	17.51	45	SNP	0.230	G
OR5D16	390144	genome.wustl.edu	37	11	55607001	55607001	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:55607001C>G	ENST00000378396.1	+	1	774	c.774C>G	c.(772-774)ctC>ctG	p.L258L		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	258						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L258L(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				GCACCATCCTCTTCCTCTACT	0.532																																						dbGAP											1	Substitution - coding silent(1)	lung(1)											119.0	106.0	110.0					11																	55607001		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"""GPCR / Class A : Olfactory receptors"""	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.774C>G	11.37:g.55607001C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IF65|Q96RB4	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.L258	ENST00000378396.1	37	c.774	CCDS31512.1	11																																																																																			OR5D16	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000205029		0.532	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5D16	HGNC	protein_coding	OTTHUMT00000334506.1	98	0.00	0	C	NM_001005496		55607001	55607001	+1	no_errors	ENST00000378396	ensembl	human	known	69_37n	silent	140	14.11	23	SNP	0.000	G
OR5AK2	390181	genome.wustl.edu	37	11	56756597	56756597	+	Missense_Mutation	SNP	A	A	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:56756597A>G	ENST00000326855.2	+	1	251	c.209A>G	c.(208-210)gAt>gGt	p.D70G		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	70						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						GCTTTTGTTGATATCTGTTAC	0.358																																						dbGAP											0													102.0	93.0	96.0					11																	56756597		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB065496	CCDS31538.1	11q11	2012-08-09			ENSG00000181273	ENSG00000181273		"""GPCR / Class A : Olfactory receptors"""	15251	protein-coding gene	gene with protein product							Standard	NM_001005323		Approved		uc010rjp.2	Q8NH90	OTTHUMG00000167019	ENST00000326855.2:c.209A>G	11.37:g.56756597A>G	ENSP00000322784:p.Asp70Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNZ9	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.D70G	ENST00000326855.2	37	c.209	CCDS31538.1	11	.	.	.	.	.	.	.	.	.	.	A	14.86	2.662976	0.47572	.	.	ENSG00000181273	ENST00000326855	T	0.01172	5.23	3.85	3.85	0.44370	GPCR, rhodopsin-like superfamily (1);	0.169822	0.27495	N	0.019116	T	0.06234	0.0161	M	0.93939	3.475	0.39558	D	0.969081	D	0.55172	0.97	P	0.51999	0.687	T	0.02837	-1.1104	10	0.87932	D	0	-40.8544	11.9306	0.52845	1.0:0.0:0.0:0.0	.	70	Q8NH90	O5AK2_HUMAN	G	70	ENSP00000322784:D70G	ENSP00000322784:D70G	D	+	2	0	OR5AK2	56513173	1.000000	0.71417	0.847000	0.33407	0.171000	0.22731	8.972000	0.93424	1.739000	0.51704	0.163000	0.16589	GAT	OR5AK2	-	pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000181273		0.358	OR5AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5AK2	HGNC	protein_coding	OTTHUMT00000392446.1	146	0.00	0	A	NM_001005323		56756597	56756597	+1	no_errors	ENST00000326855	ensembl	human	known	69_37n	missense	129	20.37	33	SNP	0.956	G
OR5H6	79295	genome.wustl.edu	37	3	97983947	97983947	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:97983947C>T	ENST00000383696.2	+	1	860	c.819C>T	c.(817-819)ttC>ttT	p.F273F	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	273						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CCCTCACCTTCAAATATCTGG	0.413																																						dbGAP											0													57.0	56.0	56.0					3																	97983947		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			BK004374	CCDS33800.1	3q12.1	2013-10-10	2013-10-10		ENSG00000230301	ENSG00000230301		"""GPCR / Class A : Olfactory receptors"""	14767	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily H, member 6"""				Standard	NM_001005479		Approved		uc003dsi.1	Q8NGV6	OTTHUMG00000160078	ENST00000383696.2:c.819C>T	3.37:g.97983947C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IF88	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.F273	ENST00000383696.2	37	c.819	CCDS33800.1	3																																																																																			OR5H6	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000230301		0.413	OR5H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5H6	HGNC	protein_coding	OTTHUMT00000359111.2	90	0.00	0	C			97983947	97983947	+1	no_errors	ENST00000383696	ensembl	human	known	69_37n	silent	107	13.71	17	SNP	0.028	T
OR5L1	219437	genome.wustl.edu	37	11	55579138	55579138	+	Silent	SNP	T	T	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:55579138T>C	ENST00000333973.2	+	1	285	c.196T>C	c.(196-198)Ttg>Ctg	p.L66L		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	66						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CCTCAGCCACTTGTCCTCTGT	0.463																																						dbGAP											0													268.0	241.0	250.0					11																	55579138		2200	4296	6496	-	-	-	SO:0001819	synonymous_variant	0			AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.196T>C	11.37:g.55579138T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNK6|Q6IFD0	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.L66	ENST00000333973.2	37	c.196	CCDS31509.1	11																																																																																			OR5L1	-	pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000186117		0.463	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5L1	HGNC	protein_coding	OTTHUMT00000391514.1	209	0.00	0	T	NM_001004738		55579138	55579138	+1	no_errors	ENST00000333973	ensembl	human	known	69_37n	silent	238	17.07	49	SNP	0.455	C
OR5L2	26338	genome.wustl.edu	37	11	55595173	55595173	+	Missense_Mutation	SNP	C	C	T	rs148523172		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:55595173C>T	ENST00000378397.1	+	1	479	c.479C>T	c.(478-480)tCg>tTg	p.S160L		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	160						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CTGATTCACTCGTCCTTAGCT	0.483										HNSCC(27;0.073)																												dbGAP											0													217.0	189.0	199.0					11																	55595173		2200	4296	6496	-	-	-	SO:0001583	missense	0			AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.479C>T	11.37:g.55595173C>T	ENSP00000367650:p.Ser160Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IF66|Q96RB2	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.S160L	ENST00000378397.1	37	c.479	CCDS31511.1	11	.	.	.	.	.	.	.	.	.	.	.	2.288	-0.363200	0.05103	.	.	ENSG00000205030	ENST00000378397	T	0.00051	8.81	5.18	2.46	0.29980	GPCR, rhodopsin-like superfamily (1);	0.749235	0.11513	N	0.556535	T	0.00073	0.0002	N	0.04162	-0.26	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18681	-1.0329	10	0.51188	T	0.08	-5.254	3.5496	0.07841	0.1661:0.2476:0.0:0.5863	.	160	Q8NGL0	OR5L2_HUMAN	L	160	ENSP00000367650:S160L	ENSP00000367650:S160L	S	+	2	0	OR5L2	55351749	0.000000	0.05858	0.007000	0.13788	0.001000	0.01503	-0.796000	0.04575	0.348000	0.23949	-0.377000	0.06932	TCG	OR5L2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000205030		0.483	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5L2	HGNC	protein_coding	OTTHUMT00000391516.1	68	0.00	0	C	NM_001004739		55595173	55595173	+1	no_errors	ENST00000378397	ensembl	human	known	69_37n	missense	61	36.46	35	SNP	0.000	T
OR6A2	8590	genome.wustl.edu	37	11	6816496	6816496	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:6816496C>G	ENST00000332601.3	-	1	632	c.444G>C	c.(442-444)caG>caC	p.Q148H		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	148					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CAGCAGCCATCTGCACACACA	0.512																																						dbGAP											0													68.0	67.0	67.0					11																	6816496		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB065822	CCDS7772.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184933	ENSG00000184933		"""GPCR / Class A : Olfactory receptors"""	15301	protein-coding gene	gene with protein product		608495		OR6A2P, OR6A1			Standard	NM_003696		Approved	OR11-55	uc001mes.1	O95222	OTTHUMG00000165736	ENST00000332601.3:c.444G>C	11.37:g.6816496C>G	ENSP00000330384:p.Gln148His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3MJC7|Q6IF35|Q9H206	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.Q148H	ENST00000332601.3	37	c.444	CCDS7772.1	11	.	.	.	.	.	.	.	.	.	.	C	4.883	0.164117	0.09287	.	.	ENSG00000184933	ENST00000332601	T	0.00137	8.68	5.07	2.02	0.26589	GPCR, rhodopsin-like superfamily (1);	0.374041	0.22597	N	0.058016	T	0.00109	0.0003	L	0.48362	1.52	0.31310	N	0.687276	B	0.06786	0.001	B	0.08055	0.003	T	0.00330	-1.1812	10	0.14252	T	0.57	.	6.3418	0.21327	0.1491:0.6818:0.0:0.1691	.	148	O95222	OR6A2_HUMAN	H	148	ENSP00000330384:Q148H	ENSP00000330384:Q148H	Q	-	3	2	OR6A2	6773072	0.000000	0.05858	0.999000	0.59377	0.292000	0.27327	-0.009000	0.12765	0.856000	0.35383	-0.136000	0.14681	CAG	OR6A2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000184933		0.512	OR6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6A2	HGNC	protein_coding	OTTHUMT00000385981.1	60	0.00	0	C	NM_003696		6816496	6816496	-1	no_errors	ENST00000332601	ensembl	human	known	69_37n	missense	81	15.62	15	SNP	1.000	G
OR5P2	120065	genome.wustl.edu	37	11	7817782	7817782	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:7817782G>A	ENST00000329434.2	-	1	738	c.708C>T	c.(706-708)acC>acT	p.T236T	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	236						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGGAAGTGCAGGTGGAGAAGG	0.498																																						dbGAP											0													123.0	124.0	123.0					11																	7817782		2107	4292	6399	-	-	-	SO:0001819	synonymous_variant	0			AF173006	CCDS7782.1	11p15.4	2012-08-09			ENSG00000183303	ENSG00000183303		"""GPCR / Class A : Olfactory receptors"""	14783	protein-coding gene	gene with protein product							Standard	NM_153444		Approved	JCG3	uc001mfp.1	Q8WZ92	OTTHUMG00000165668	ENST00000329434.2:c.708C>T	11.37:g.7817782G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3MIS8	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T236	ENST00000329434.2	37	c.708	CCDS7782.1	11																																																																																			OR5P2	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000183303		0.498	OR5P2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5P2	HGNC	protein_coding	OTTHUMT00000385696.1	97	0.00	0	G	NM_153444		7817782	7817782	-1	no_errors	ENST00000329434	ensembl	human	known	69_37n	silent	89	18.92	21	SNP	0.998	A
OR5P2	120065	genome.wustl.edu	37	11	7818342	7818342	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:7818342G>C	ENST00000329434.2	-	1	178	c.148C>G	c.(148-150)Cag>Gag	p.Q50E	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGATGGAGCTGAGAAGAAATT	0.408																																						dbGAP											0													62.0	78.0	73.0					11																	7818342		2104	4292	6396	-	-	-	SO:0001583	missense	0			AF173006	CCDS7782.1	11p15.4	2012-08-09			ENSG00000183303	ENSG00000183303		"""GPCR / Class A : Olfactory receptors"""	14783	protein-coding gene	gene with protein product							Standard	NM_153444		Approved	JCG3	uc001mfp.1	Q8WZ92	OTTHUMG00000165668	ENST00000329434.2:c.148C>G	11.37:g.7818342G>C	ENSP00000331823:p.Gln50Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3MIS8	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.Q50E	ENST00000329434.2	37	c.148	CCDS7782.1	11	.	.	.	.	.	.	.	.	.	.	G	7.526	0.657677	0.14645	.	.	ENSG00000183303	ENST00000329434	T	0.00476	7.15	5.5	5.5	0.81552	GPCR, rhodopsin-like superfamily (1);	0.099124	0.45126	D	0.000394	T	0.00666	0.0022	M	0.71036	2.16	0.28914	N	0.892547	B	0.14438	0.01	B	0.15484	0.013	T	0.37686	-0.9695	10	0.72032	D	0.01	-14.441	16.9428	0.86222	0.0:0.0:1.0:0.0	.	50	Q8WZ92	OR5P2_HUMAN	E	50	ENSP00000331823:Q50E	ENSP00000331823:Q50E	Q	-	1	0	OR5P2	7774918	0.075000	0.21258	1.000000	0.80357	0.011000	0.07611	1.457000	0.35212	2.868000	0.98415	0.555000	0.69702	CAG	OR5P2	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000183303		0.408	OR5P2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5P2	HGNC	protein_coding	OTTHUMT00000385696.1	47	0.00	0	G	NM_153444		7818342	7818342	-1	no_errors	ENST00000329434	ensembl	human	known	69_37n	missense	52	24.64	17	SNP	0.982	C
OR5M8	219484	genome.wustl.edu	37	11	56258825	56258825	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:56258825C>T	ENST00000327216.2	-	1	46	c.22G>A	c.(22-24)Gtg>Atg	p.V8M		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	8						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					AACTCAGTCACCAACGTGCAG	0.413																																						dbGAP											0													58.0	62.0	61.0					11																	56258825		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB065744	CCDS31533.1	11q11	2012-08-09			ENSG00000181371	ENSG00000181371		"""GPCR / Class A : Olfactory receptors"""	14846	protein-coding gene	gene with protein product							Standard	NM_001005282		Approved		uc001nix.1	Q8NGP6	OTTHUMG00000166877	ENST00000327216.2:c.22G>A	11.37:g.56258825C>T	ENSP00000323354:p.Val8Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNM5|Q6IEW3|Q96RB8	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.V8M	ENST00000327216.2	37	c.22	CCDS31533.1	11	.	.	.	.	.	.	.	.	.	.	C	5.626	0.300184	0.10622	.	.	ENSG00000181371	ENST00000327216	T	0.00892	5.57	3.47	1.54	0.23209	.	0.833172	0.09587	U	0.782067	T	0.01800	0.0057	M	0.72894	2.215	0.09310	N	1	B	0.27971	0.196	B	0.32149	0.141	T	0.37820	-0.9689	10	0.66056	D	0.02	-8.9067	7.3619	0.26752	0.0:0.7641:0.0:0.2359	.	8	Q8NGP6	OR5M8_HUMAN	M	8	ENSP00000323354:V8M	ENSP00000323354:V8M	V	-	1	0	OR5M8	56015401	0.000000	0.05858	0.048000	0.18961	0.017000	0.09413	0.574000	0.23714	0.810000	0.34279	0.435000	0.28638	GTG	OR5M8	-	NULL	ENSG00000181371		0.413	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5M8	HGNC	protein_coding	OTTHUMT00000391641.1	14	0.00	0	C	NM_001005282		56258825	56258825	-1	no_errors	ENST00000327216	ensembl	human	known	69_37n	missense	15	28.57	6	SNP	0.003	T
OR6C74	254783	genome.wustl.edu	37	12	55641280	55641280	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:55641280C>T	ENST00000343870.4	+	1	299	c.209C>T	c.(208-210)tCa>tTa	p.S70L		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	70						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						TTAGAAGTCTCATTCACAACT	0.388																																						dbGAP											0													163.0	163.0	163.0					12																	55641280		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS31816.1	12q13.13	2012-08-09			ENSG00000197706	ENSG00000197706		"""GPCR / Class A : Olfactory receptors"""	31303	protein-coding gene	gene with protein product							Standard	NM_001005490		Approved		uc010spg.2	A6NCV1	OTTHUMG00000165162	ENST00000343870.4:c.209C>T	12.37:g.55641280C>T	ENSP00000342836:p.Ser70Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.S70L	ENST00000343870.4	37	c.209	CCDS31816.1	12	.	.	.	.	.	.	.	.	.	.	c	4.679	0.126334	0.08931	.	.	ENSG00000197706	ENST00000343870	T	0.00428	7.44	4.83	3.0	0.34707	GPCR, rhodopsin-like superfamily (1);	0.691128	0.12557	N	0.458488	T	0.00271	0.0008	N	0.21508	0.67	0.09310	N	1	B	0.10296	0.003	B	0.17433	0.018	T	0.39603	-0.9606	10	0.44086	T	0.13	.	7.4339	0.27143	0.0:0.6609:0.1748:0.1643	.	70	A6NCV1	O6C74_HUMAN	L	70	ENSP00000342836:S70L	ENSP00000342836:S70L	S	+	2	0	OR6C74	53927547	0.005000	0.15991	0.002000	0.10522	0.173000	0.22820	1.319000	0.33655	0.738000	0.32606	0.551000	0.68910	TCA	OR6C74	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000197706		0.388	OR6C74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C74	HGNC	protein_coding	OTTHUMT00000382312.1	117	0.00	0	C			55641280	55641280	+1	no_errors	ENST00000343870	ensembl	human	known	69_37n	missense	138	19.77	34	SNP	0.000	T
OR6C74	254783	genome.wustl.edu	37	12	55641588	55641588	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:55641588G>C	ENST00000343870.4	+	1	607	c.517G>C	c.(517-519)Gat>Cat	p.D173H		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	173						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						CAACACTGTAGATCATTTCTT	0.448																																						dbGAP											0													86.0	81.0	82.0					12																	55641588		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS31816.1	12q13.13	2012-08-09			ENSG00000197706	ENSG00000197706		"""GPCR / Class A : Olfactory receptors"""	31303	protein-coding gene	gene with protein product							Standard	NM_001005490		Approved		uc010spg.2	A6NCV1	OTTHUMG00000165162	ENST00000343870.4:c.517G>C	12.37:g.55641588G>C	ENSP00000342836:p.Asp173His	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.D173H	ENST00000343870.4	37	c.517	CCDS31816.1	12	.	.	.	.	.	.	.	.	.	.	g	13.87	2.365502	0.41902	.	.	ENSG00000197706	ENST00000343870	T	0.00069	8.77	5.45	2.61	0.31194	GPCR, rhodopsin-like superfamily (1);	0.114808	0.38548	N	0.001660	T	0.00328	0.0010	L	0.60067	1.865	0.33508	D	0.590759	D	0.89917	1.0	D	0.85130	0.997	T	0.66606	-0.5881	10	0.87932	D	0	.	8.2068	0.31461	0.3743:0.0:0.6257:0.0	.	173	A6NCV1	O6C74_HUMAN	H	173	ENSP00000342836:D173H	ENSP00000342836:D173H	D	+	1	0	OR6C74	53927855	0.000000	0.05858	0.894000	0.35097	0.526000	0.34562	-0.317000	0.08060	0.794000	0.33899	-0.268000	0.10319	GAT	OR6C74	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000197706		0.448	OR6C74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C74	HGNC	protein_coding	OTTHUMT00000382312.1	62	0.00	0	G			55641588	55641588	+1	no_errors	ENST00000343870	ensembl	human	known	69_37n	missense	64	21.95	18	SNP	0.826	C
OR6C74	254783	genome.wustl.edu	37	12	55641628	55641628	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:55641628C>G	ENST00000343870.4	+	1	647	c.557C>G	c.(556-558)tCt>tGt	p.S186C		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	186						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						CTGCAGCTCTCTTGCACAGAC	0.413																																						dbGAP											0													94.0	86.0	89.0					12																	55641628		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS31816.1	12q13.13	2012-08-09			ENSG00000197706	ENSG00000197706		"""GPCR / Class A : Olfactory receptors"""	31303	protein-coding gene	gene with protein product							Standard	NM_001005490		Approved		uc010spg.2	A6NCV1	OTTHUMG00000165162	ENST00000343870.4:c.557C>G	12.37:g.55641628C>G	ENSP00000342836:p.Ser186Cys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.S186C	ENST00000343870.4	37	c.557	CCDS31816.1	12	.	.	.	.	.	.	.	.	.	.	c	18.31	3.595699	0.66219	.	.	ENSG00000197706	ENST00000343870	T	0.00301	8.21	5.45	4.54	0.55810	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000085	T	0.01287	0.0042	H	0.98351	4.21	0.24037	N	0.996094	D	0.89917	1.0	D	0.79784	0.993	T	0.18777	-1.0326	10	0.87932	D	0	.	13.6938	0.62564	0.0:0.9241:0.0:0.0758	.	186	A6NCV1	O6C74_HUMAN	C	186	ENSP00000342836:S186C	ENSP00000342836:S186C	S	+	2	0	OR6C74	53927895	0.000000	0.05858	0.996000	0.52242	0.873000	0.50193	1.392000	0.34486	2.722000	0.93159	0.551000	0.68910	TCT	OR6C74	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000197706		0.413	OR6C74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C74	HGNC	protein_coding	OTTHUMT00000382312.1	61	0.00	0	C			55641628	55641628	+1	no_errors	ENST00000343870	ensembl	human	known	69_37n	missense	71	17.24	15	SNP	0.585	G
OR7A10	390892	genome.wustl.edu	37	19	14952650	14952650	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:14952650G>C	ENST00000248058.1	-	1	39	c.40C>G	c.(40-42)Ctc>Gtc	p.L14V		NM_001005190.1	NP_001005190.1	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A, member 10	14						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					ATTCCCAGGAGAAGAAATTCT	0.443																																						dbGAP											0													51.0	54.0	53.0					19																	14952650		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS32936.1	19p13.1	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8356	protein-coding gene	gene with protein product							Standard	NM_001005190		Approved		uc002mzx.1	O76100		ENST00000248058.1:c.40C>G	19.37:g.14952650G>C	ENSP00000248058:p.Leu14Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFP0|Q96R97	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.L14V	ENST00000248058.1	37	c.40	CCDS32936.1	19	.	.	.	.	.	.	.	.	.	.	g	15.38	2.815718	0.50527	.	.	ENSG00000127515	ENST00000248058	T	0.00563	6.58	2.74	2.74	0.32292	.	0.000000	0.34110	U	0.004252	T	0.02970	0.0088	H	0.96489	3.83	0.09310	N	1	D	0.67145	0.996	D	0.76071	0.987	T	0.11991	-1.0565	10	0.87932	D	0	.	7.1446	0.25575	0.0:0.0:0.7327:0.2672	.	14	O76100	OR7AA_HUMAN	V	14	ENSP00000248058:L14V	ENSP00000248058:L14V	L	-	1	0	OR7A10	14813650	.	.	0.043000	0.18650	0.446000	0.32137	.	.	1.567000	0.49668	0.420000	0.28162	CTC	OR7A10	-	NULL	ENSG00000127515		0.443	OR7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7A10	HGNC	protein_coding	OTTHUMT00000466520.1	34	0.00	0	G	NM_001005190		14952650	14952650	-1	no_errors	ENST00000248058	ensembl	human	known	69_37n	missense	32	15.79	6	SNP	0.030	C
OR7C2	26658	genome.wustl.edu	37	19	15052452	15052452	+	Nonsense_Mutation	SNP	C	C	G	rs567659431		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:15052452C>G	ENST00000248072.3	+	1	152	c.152C>G	c.(151-153)tCa>tGa	p.S51*		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	51						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					ACCATCAGTTCAGACTCCCAC	0.517																																						dbGAP											0													106.0	88.0	94.0					19																	15052452		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U86255	CCDS12320.1	19p13.1	2012-08-09				ENSG00000127529		"""GPCR / Class A : Olfactory receptors"""	8374	protein-coding gene	gene with protein product				OR7C3			Standard	NM_012377		Approved	OR19-18	uc010xoc.2	O60412		ENST00000248072.3:c.152C>G	19.37:g.15052452C>G	ENSP00000248072:p.Ser51*	Somatic		WXS	Illumina GAIIx	Phase_IV	O43881|Q6IFP9	Nonsense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.S51*	ENST00000248072.3	37	c.152	CCDS12320.1	19	.	.	.	.	.	.	.	.	.	.	c	12.28	1.891032	0.33348	.	.	ENSG00000127529	ENST00000248072	.	.	.	4.19	1.99	0.26369	.	0.437325	0.16772	U	0.200162	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	4.8639	0.13598	0.0:0.6253:0.1749:0.1998	.	.	.	.	X	51	.	ENSP00000248072:S51X	S	+	2	0	OR7C2	14913452	0.000000	0.05858	0.014000	0.15608	0.117000	0.20001	-1.521000	0.02239	0.513000	0.28278	0.514000	0.50259	TCA	OR7C2	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000127529		0.517	OR7C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7C2	HGNC	protein_coding	OTTHUMT00000466281.1	59	0.00	0	C			15052452	15052452	+1	no_errors	ENST00000248072	ensembl	human	known	69_37n	nonsense	43	29.51	18	SNP	0.001	G
OR8K5	219453	genome.wustl.edu	37	11	55927406	55927406	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:55927406G>C	ENST00000313447.1	-	1	387	c.388C>G	c.(388-390)Ctg>Gtg	p.L130V		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	130						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				TAATAGAGCAGAGGGTTACAA	0.423																																						dbGAP											0													84.0	85.0	85.0					11																	55927406		2201	4295	6496	-	-	-	SO:0001583	missense	0			BK004347	CCDS31521.1	11q11	2012-08-09			ENSG00000181752	ENSG00000181752		"""GPCR / Class A : Olfactory receptors"""	15315	protein-coding gene	gene with protein product							Standard	NM_001004058		Approved		uc010rja.2	Q8NH50	OTTHUMG00000166820	ENST00000313447.1:c.388C>G	11.37:g.55927406G>C	ENSP00000323853:p.Leu130Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFB5	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.L130V	ENST00000313447.1	37	c.388	CCDS31521.1	11	.	.	.	.	.	.	.	.	.	.	G	11.56	1.675509	0.29783	.	.	ENSG00000181752	ENST00000313447	T	0.01484	4.84	4.18	-1.11	0.09840	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43919	D	0.000506	T	0.13072	0.0317	H	0.95950	3.745	0.26278	N	0.978326	D	0.89917	1.0	D	0.83275	0.996	T	0.01675	-1.1298	10	0.87932	D	0	.	9.7967	0.40740	0.3207:0.0:0.6793:0.0	.	130	Q8NH50	OR8K5_HUMAN	V	130	ENSP00000323853:L130V	ENSP00000323853:L130V	L	-	1	2	OR8K5	55683982	0.000000	0.05858	0.897000	0.35233	0.112000	0.19704	-0.877000	0.04197	-0.301000	0.08882	-0.268000	0.10319	CTG	OR8K5	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000181752		0.423	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8K5	HGNC	protein_coding	OTTHUMT00000391543.1	64	0.00	0	G	NM_001004058		55927406	55927406	-1	no_errors	ENST00000313447	ensembl	human	known	69_37n	missense	55	11.29	7	SNP	0.994	C
OR8B2	26595	genome.wustl.edu	37	11	124253080	124253080	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:124253080G>C	ENST00000375013.2	-	1	178	c.160C>G	c.(160-162)Cac>Gac	p.H54D		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	54						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(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GTGTGGAGGTGAGAATTTAGA	0.428																																						dbGAP											0													188.0	174.0	179.0					11																	124253080		2201	4299	6500	-	-	-	SO:0001583	missense	0			AB065826	CCDS31708.1	11q24.1	2012-08-09			ENSG00000204293	ENSG00000204293		"""GPCR / Class A : Olfactory receptors"""	8471	protein-coding gene	gene with protein product							Standard	XM_005271500		Approved		uc010sai.2	Q96RD0	OTTHUMG00000165982	ENST00000375013.2:c.160C>G	11.37:g.124253080G>C	ENSP00000364152:p.His54Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NGH2	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.H54D	ENST00000375013.2	37	c.160	CCDS31708.1	11	.	.	.	.	.	.	.	.	.	.	g	7.276	0.608224	0.14002	.	.	ENSG00000204293	ENST00000375013	T	0.01059	5.39	4.2	3.29	0.37713	GPCR, rhodopsin-like superfamily (1);	0.308194	0.28600	N	0.014768	T	0.02888	0.0086	M	0.93638	3.44	0.26663	N	0.971873	P	0.35433	0.501	B	0.30401	0.115	T	0.18587	-1.0332	10	0.87932	D	0	.	7.198	0.25864	0.095:0.1724:0.7326:0.0	.	54	Q96RD0	OR8B2_HUMAN	D	54	ENSP00000364152:H54D	ENSP00000364152:H54D	H	-	1	0	OR8B2	123758290	0.015000	0.18098	0.925000	0.36789	0.183000	0.23260	1.686000	0.37669	1.140000	0.42260	0.400000	0.26472	CAC	OR8B2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000204293		0.428	OR8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8B2	HGNC	protein_coding	OTTHUMT00000387290.1	161	0.00	0	G	NM_001005468		124253080	124253080	-1	no_errors	ENST00000375013	ensembl	human	known	69_37n	missense	104	26.24	37	SNP	0.615	C
ORC5	5001	genome.wustl.edu	37	7	103844671	103844671	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:103844671G>A	ENST00000297431.4	-	2	226	c.84C>T	c.(82-84)ttC>ttT	p.F28F	ORC5_ENST00000447452.2_Silent_p.F28F|ORC5_ENST00000545943.1_5'UTR|ORC5_ENST00000485726.1_5'UTR	NM_002553.3	NP_002544.1	O43913	ORC5_HUMAN	origin recognition complex, subunit 5	28					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)	ATP binding (GO:0005524)|DNA replication origin binding (GO:0003688)|nucleotide binding (GO:0000166)			kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1)	14						ATGGAAAGCTGAAATGATGTC	0.318																																						dbGAP											0													61.0	61.0	61.0					7																	103844671		2201	4298	6499	-	-	-	SO:0001819	synonymous_variant	0				CCDS5734.1, CCDS47681.1	7q22.1	2014-06-13	2010-10-12	2010-10-12	ENSG00000164815	ENSG00000164815			8491	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 117"""	602331	"""origin recognition complex, subunit 5 (yeast homolog)-like"", ""origin recognition complex, subunit 5-like (yeast)"", ""origin recognition complex, subunit 5 homolog (yeast)"""	ORC5L		9417919, 9829972	Standard	NM_002553		Approved	Orc5p, ORC5T, PPP1R117	uc003vcb.3	O43913	OTTHUMG00000157275	ENST00000297431.4:c.84C>T	7.37:g.103844671G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D0P8|O60590|O95268	Silent	SNP	NULL	p.F28	ENST00000297431.4	37	c.84	CCDS5734.1	7																																																																																			ORC5	-	NULL	ENSG00000164815		0.318	ORC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ORC5	HGNC	protein_coding	OTTHUMT00000348286.1	107	0.00	0	G	NM_002553		103844671	103844671	-1	no_errors	ENST00000297431	ensembl	human	known	69_37n	silent	67	33.00	33	SNP	0.997	A
OSBPL10	114884	genome.wustl.edu	37	3	31725465	31725465	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:31725465G>A	ENST00000396556.2	-	8	1509	c.1387C>T	c.(1387-1389)Ctc>Ttc	p.L463F	OSBPL10_ENST00000438237.2_Missense_Mutation_p.L399F	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	463					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		AAGGCTGTGAGATAATACTCA	0.547																																						dbGAP											0													73.0	75.0	75.0					3																	31725465		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF392451	CCDS2651.1, CCDS54559.1	3p23	2013-01-10			ENSG00000144645	ENSG00000144645		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16395	protein-coding gene	gene with protein product		606738					Standard	NM_001174060		Approved		uc021wuu.1	Q9BXB5	OTTHUMG00000130672	ENST00000396556.2:c.1387C>T	3.37:g.31725465G>A	ENSP00000379804:p.Leu463Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E212|Q9BTU5	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.L463F	ENST00000396556.2	37	c.1387	CCDS2651.1	3	.	.	.	.	.	.	.	.	.	.	G	29.5	5.007421	0.93287	.	.	ENSG00000144645	ENST00000396556;ENST00000438237	T;T	0.33654	1.4;1.4	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.64338	0.2589	M	0.78049	2.395	0.80722	D	1	D;P;D	0.89917	1.0;0.938;1.0	D;P;D	0.83275	0.995;0.888;0.996	T	0.63690	-0.6580	10	0.52906	T	0.07	-26.1479	20.14	0.98056	0.0:0.0:1.0:0.0	.	399;463;231	B4E212;Q9BXB5;Q59ED9	.;OSB10_HUMAN;.	F	463;399	ENSP00000379804:L463F;ENSP00000406124:L399F	ENSP00000379804:L463F	L	-	1	0	OSBPL10	31700469	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.682000	0.84083	2.837000	0.97791	0.591000	0.81541	CTC	OSBPL10	-	pfam_Oxysterol-bd	ENSG00000144645		0.547	OSBPL10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OSBPL10	HGNC	protein_coding	OTTHUMT00000253165.2	57	0.00	0	G			31725465	31725465	-1	no_errors	ENST00000396556	ensembl	human	known	69_37n	missense	75	20.21	19	SNP	1.000	A
OSBPL5	114879	genome.wustl.edu	37	11	3128582	3128582	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:3128582C>T	ENST00000263650.7	-	9	1129	c.970G>A	c.(970-972)Gag>Aag	p.E324K	OSBPL5_ENST00000525498.1_Missense_Mutation_p.E235K|OSBPL5_ENST00000389989.3_Missense_Mutation_p.E256K|OSBPL5_ENST00000348039.5_Missense_Mutation_p.E256K|OSBPL5_ENST00000542243.1_Intron	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	324					cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|Golgi to plasma membrane transport (GO:0006893)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|oxysterol binding (GO:0008142)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CTGCCACTCTCCGTCTTCCGG	0.627																																						dbGAP											0													135.0	137.0	136.0					11																	3128582		2202	4298	6500	-	-	-	SO:0001583	missense	0			AF392453	CCDS31343.1, CCDS31344.1	11p15.4	2013-01-10			ENSG00000021762	ENSG00000021762		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16392	protein-coding gene	gene with protein product		606733					Standard	NM_145638		Approved	KIAA1534, ORP5	uc001lxk.2	Q9H0X9	OTTHUMG00000011702	ENST00000263650.7:c.970G>A	11.37:g.3128582C>T	ENSP00000263650:p.Glu324Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDP0|A6NJS8|Q54A90|Q8N596|Q9BZB0|Q9P1Z4	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E324K	ENST00000263650.7	37	c.970	CCDS31344.1	11	.	.	.	.	.	.	.	.	.	.	C	22.8	4.342005	0.81911	.	.	ENSG00000021762	ENST00000263650;ENST00000389989;ENST00000525498;ENST00000348039	T;T;T;T	0.32515	1.45;1.47;1.47;1.47	4.5	4.5	0.54988	.	2.249460	0.02145	N	0.057498	T	0.56016	0.1957	M	0.66939	2.045	0.80722	D	1	P;P;P;D	0.62365	0.864;0.773;0.864;0.991	P;P;P;P	0.58721	0.52;0.451;0.52;0.844	T	0.41998	-0.9477	10	0.27785	T	0.31	-4.166	17.386	0.87416	0.0:1.0:0.0:0.0	.	235;285;256;324	B4DVB0;E7EP03;Q8N596;Q9H0X9	.;.;.;OSBL5_HUMAN	K	324;256;235;256	ENSP00000263650:E324K;ENSP00000374639:E256K;ENSP00000433342:E235K;ENSP00000302872:E256K	ENSP00000263650:E324K	E	-	1	0	OSBPL5	3085158	1.000000	0.71417	0.869000	0.34112	0.419000	0.31324	6.563000	0.73964	2.348000	0.79779	0.555000	0.69702	GAG	OSBPL5	-	NULL	ENSG00000021762		0.627	OSBPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL5	HGNC	protein_coding	OTTHUMT00000032332.2	98	0.00	0	C			3128582	3128582	-1	no_errors	ENST00000263650	ensembl	human	known	69_37n	missense	68	24.44	22	SNP	1.000	T
OSBPL5	114879	genome.wustl.edu	37	11	3140805	3140805	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:3140805C>T	ENST00000263650.7	-	7	822	c.663G>A	c.(661-663)ctG>ctA	p.L221L	OSBPL5_ENST00000525498.1_Silent_p.L132L|OSBPL5_ENST00000389989.3_Silent_p.L153L|OSBPL5_ENST00000348039.5_Silent_p.L153L|OSBPL5_ENST00000542243.1_Intron	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	221	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|Golgi to plasma membrane transport (GO:0006893)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|oxysterol binding (GO:0008142)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CCCTGAAGATCAGGTAGCTGC	0.637																																						dbGAP											0													87.0	84.0	85.0					11																	3140805		2202	4298	6500	-	-	-	SO:0001819	synonymous_variant	0			AF392453	CCDS31343.1, CCDS31344.1	11p15.4	2013-01-10			ENSG00000021762	ENSG00000021762		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16392	protein-coding gene	gene with protein product		606733					Standard	NM_145638		Approved	KIAA1534, ORP5	uc001lxk.2	Q9H0X9	OTTHUMG00000011702	ENST00000263650.7:c.663G>A	11.37:g.3140805C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDP0|A6NJS8|Q54A90|Q8N596|Q9BZB0|Q9P1Z4	Silent	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.L221	ENST00000263650.7	37	c.663	CCDS31344.1	11																																																																																			OSBPL5	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000021762		0.637	OSBPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL5	HGNC	protein_coding	OTTHUMT00000032332.2	68	0.00	0	C			3140805	3140805	-1	no_errors	ENST00000263650	ensembl	human	known	69_37n	silent	83	14.43	14	SNP	1.000	T
OSBPL6	114880	genome.wustl.edu	37	2	179209060	179209060	+	Intron	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:179209060G>C	ENST00000190611.4	+	11	1363				OSBPL6_ENST00000357080.4_Intron|OSBPL6_ENST00000409631.1_Intron|OSBPL6_ENST00000315022.2_Missense_Mutation_p.Q324H|OSBPL6_ENST00000359685.3_Intron|OSBPL6_ENST00000409045.3_Intron|OSBPL6_ENST00000392505.2_Missense_Mutation_p.Q345H	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6						lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			GGCGCCGGCAGAGGCTAGCGG	0.557																																						dbGAP											0													52.0	54.0	53.0					2																	179209060		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"""Oxysterol binding proteins"""	16388	protein-coding gene	gene with protein product	"""OSBP-related protein 6"""	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.987+4569G>C	2.37:g.179209060G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Missense_Mutation	SNP	pfam_Oxysterol-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.Q324H	ENST00000190611.4	37	c.972	CCDS2277.1	2	.	.	.	.	.	.	.	.	.	.	G	17.10	3.303628	0.60305	.	.	ENSG00000079156	ENST00000392505;ENST00000315022	T;T	0.12039	2.72;2.72	6.02	6.02	0.97574	.	0.071694	0.64402	D	0.000019	T	0.38852	0.1056	.	.	.	0.80722	D	1	D;D	0.60575	0.988;0.988	D;D	0.72338	0.977;0.977	T	0.01042	-1.1471	9	0.45353	T	0.12	-15.4023	18.7178	0.91682	0.0:0.0:1.0:0.0	.	324;345	Q9BZF3-3;Q9BZF3-5	.;.	H	345;324	ENSP00000376293:Q345H;ENSP00000318723:Q324H	ENSP00000318723:Q324H	Q	+	3	2	OSBPL6	178917306	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.069000	0.71209	2.857000	0.98124	0.650000	0.86243	CAG	OSBPL6	-	NULL	ENSG00000079156		0.557	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	OSBPL6	HGNC	protein_coding	OTTHUMT00000334393.2	49	0.00	0	G	NM_032523		179209060	179209060	+1	no_errors	ENST00000315022	ensembl	human	known	69_37n	missense	61	26.51	22	SNP	1.000	C
OSBPL7	114881	genome.wustl.edu	37	17	45885729	45885729	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:45885729C>T	ENST00000007414.3	-	23	2648	c.2457G>A	c.(2455-2457)gtG>gtA	p.V819V	OSBPL7_ENST00000392507.3_Silent_p.V819V	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	819					cellular response to cholesterol (GO:0071397)|lipid transport (GO:0006869)|positive regulation of proteasomal protein catabolic process (GO:1901800)	autophagic vacuole (GO:0005776)|cytosol (GO:0005829)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						TATTGTTGGTCACCCACCACT	0.642																																						dbGAP											0													59.0	52.0	54.0					17																	45885729		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF392446	CCDS11515.1	17q21	2013-01-10				ENSG00000006025		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16387	protein-coding gene	gene with protein product		606735				14593528, 11735225	Standard	NM_145798		Approved	ORP7, MGC71150	uc002ilx.1	Q9BZF2		ENST00000007414.3:c.2457G>A	17.37:g.45885729C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTT6|Q6PIV6	Silent	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.V819	ENST00000007414.3	37	c.2457	CCDS11515.1	17																																																																																			OSBPL7	-	pfam_Oxysterol-bd	ENSG00000006025		0.642	OSBPL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL7	HGNC	protein_coding	OTTHUMT00000441367.1	45	0.00	0	C	NM_017731		45885729	45885729	-1	no_errors	ENST00000007414	ensembl	human	known	69_37n	silent	131	10.88	16	SNP	1.000	T
OSBPL8	114882	genome.wustl.edu	37	12	76772307	76772307	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:76772307C>G	ENST00000261183.3	-	16	2133	c.1654G>C	c.(1654-1656)Gag>Cag	p.E552Q	OSBPL8_ENST00000393250.4_Missense_Mutation_p.E510Q|OSBPL8_ENST00000393249.2_Missense_Mutation_p.E510Q	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	552					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|negative regulation of cell migration (GO:0030336)|negative regulation of sequestering of triglyceride (GO:0010891)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of protein kinase B signaling (GO:0051897)|protein localization to nuclear pore (GO:0090204)	membrane (GO:0016020)|nuclear membrane (GO:0031965)	cholesterol binding (GO:0015485)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						GCTTCTCCCTCTAATATTGCA	0.274																																						dbGAP											0													151.0	155.0	154.0					12																	76772307		2203	4298	6501	-	-	-	SO:0001583	missense	0			AF392452	CCDS31862.1, CCDS41814.1	12q14	2013-01-10				ENSG00000091039		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16396	protein-coding gene	gene with protein product		606736				1735225, 17991739	Standard	NM_020841		Approved	OSBP10, ORP8, MST120, MSTP120	uc001sye.1	Q9BZF1		ENST00000261183.3:c.1654G>C	12.37:g.76772307C>G	ENSP00000261183:p.Glu552Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1T2|E9PE66|E9PE68|Q52LQ3|Q68D75|Q8WXP8|Q9P277	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E552Q	ENST00000261183.3	37	c.1654	CCDS31862.1	12	.	.	.	.	.	.	.	.	.	.	C	24.4	4.531871	0.85706	.	.	ENSG00000091039	ENST00000393249;ENST00000261183;ENST00000446075;ENST00000393250;ENST00000438913;ENST00000547540;ENST00000546946	T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52	5.76	5.76	0.90799	.	0.141974	0.64402	D	0.000004	T	0.33644	0.0870	L	0.50333	1.59	0.80722	D	1	B;B	0.27594	0.182;0.107	B;B	0.28991	0.097;0.061	T	0.04413	-1.0953	10	0.27082	T	0.32	-13.4751	19.9576	0.97228	0.0:1.0:0.0:0.0	.	527;552	F8VUA7;Q9BZF1	.;OSBL8_HUMAN	Q	510;552;537;510;552;552;527	ENSP00000376939:E510Q;ENSP00000261183:E552Q;ENSP00000376940:E510Q;ENSP00000450238:E552Q;ENSP00000447893:E527Q	ENSP00000261183:E552Q	E	-	1	0	OSBPL8	75296438	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.693000	0.84214	2.736000	0.93811	0.655000	0.94253	GAG	OSBPL8	-	pfam_Oxysterol-bd	ENSG00000091039		0.274	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OSBPL8	HGNC	protein_coding	OTTHUMT00000406357.1	135	0.00	0	C	NM_020841		76772307	76772307	-1	no_errors	ENST00000261183	ensembl	human	known	69_37n	missense	88	40.14	59	SNP	1.000	G
OSBPL9	114883	genome.wustl.edu	37	1	52231525	52231525	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:52231525C>T	ENST00000428468.1	+	12	812	c.810C>T	c.(808-810)ctC>ctT	p.L270L	OSBPL9_ENST00000462759.1_Silent_p.L92L|OSBPL9_ENST00000531828.1_Silent_p.L105L|OSBPL9_ENST00000337809.4_Silent_p.L275L|OSBPL9_ENST00000371710.3_Silent_p.L288L|OSBPL9_ENST00000453295.1_Silent_p.L253L|OSBPL9_ENST00000486942.1_Silent_p.L92L|OSBPL9_ENST00000371714.1_Silent_p.L257L|OSBPL9_ENST00000447887.1_Silent_p.L280L|OSBPL9_ENST00000361556.5_Silent_p.L160L|OSBPL9_ENST00000435686.2_Silent_p.L105L|OSBPL9_ENST00000530544.1_Silent_p.L189L			Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	270					lipid transport (GO:0006869)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						GTAGCAGTCTCACTTCTCCAA	0.418																																						dbGAP											0													112.0	101.0	105.0					1																	52231525		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF392445	CCDS558.1, CCDS41332.1, CCDS41333.1, CCDS41334.1, CCDS41332.2, CCDS41332.3, CCDS41333.2, CCDS44145.1, CCDS55598.1	1p32.3	2013-01-10			ENSG00000117859	ENSG00000117859		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16386	protein-coding gene	gene with protein product		606737					Standard	NM_148904		Approved		uc001csu.3	Q96SU4	OTTHUMG00000008234	ENST00000428468.1:c.810C>T	1.37:g.52231525C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AKJ8|B3KPQ4|D3DQ31|Q5TFC0|Q6IA67|Q86YQ3|Q8NB17|Q8TAS8|Q96SK4|Q9H9X2	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S191L	ENST00000428468.1	37	c.572	CCDS41332.3	1																																																																																			OSBPL9	-	NULL	ENSG00000117859		0.418	OSBPL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OSBPL9	HGNC	protein_coding	OTTHUMT00000022584.4	84	0.00	0	C			52231525	52231525	+1	no_start_codon	ENST00000489990	ensembl	human	known	69_37n	missense	51	22.73	15	SNP	0.000	T
OSBPL9	114883	genome.wustl.edu	37	1	52249974	52249974	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:52249974C>T	ENST00000428468.1	+	19	1665	c.1663C>T	c.(1663-1665)Ctc>Ttc	p.L555F	OSBPL9_ENST00000462759.1_Missense_Mutation_p.L377F|OSBPL9_ENST00000531828.1_Missense_Mutation_p.L390F|OSBPL9_ENST00000337809.4_Missense_Mutation_p.L560F|OSBPL9_ENST00000371710.3_Missense_Mutation_p.L573F|OSBPL9_ENST00000453295.1_Missense_Mutation_p.L538F|OSBPL9_ENST00000486942.1_Missense_Mutation_p.L377F|OSBPL9_ENST00000371714.1_Missense_Mutation_p.L542F|OSBPL9_ENST00000447887.1_Missense_Mutation_p.L565F|OSBPL9_ENST00000361556.5_Missense_Mutation_p.L445F|OSBPL9_ENST00000435686.2_Missense_Mutation_p.L390F|OSBPL9_ENST00000530544.1_Missense_Mutation_p.L474F			Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	555					lipid transport (GO:0006869)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						ACATTACATTCTCACATTCCC	0.488																																						dbGAP											0													217.0	185.0	196.0					1																	52249974		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF392445	CCDS558.1, CCDS41332.1, CCDS41333.1, CCDS41334.1, CCDS41332.2, CCDS41332.3, CCDS41333.2, CCDS44145.1, CCDS55598.1	1p32.3	2013-01-10			ENSG00000117859	ENSG00000117859		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16386	protein-coding gene	gene with protein product		606737					Standard	NM_148904		Approved		uc001csu.3	Q96SU4	OTTHUMG00000008234	ENST00000428468.1:c.1663C>T	1.37:g.52249974C>T	ENSP00000407168:p.Leu555Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AKJ8|B3KPQ4|D3DQ31|Q5TFC0|Q6IA67|Q86YQ3|Q8NB17|Q8TAS8|Q96SK4|Q9H9X2	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.L573F	ENST00000428468.1	37	c.1717	CCDS41332.3	1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.118492	0.77323	.	.	ENSG00000117859	ENST00000371714;ENST00000371710;ENST00000337809;ENST00000447887;ENST00000435686;ENST00000428468;ENST00000453295;ENST00000530544;ENST00000531828;ENST00000361556;ENST00000462759;ENST00000486942	T;T;T;T;T;T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5	5.35	5.35	0.76521	.	0.058454	0.64402	D	0.000004	T	0.43634	0.1256	L	0.49455	1.56	0.51012	D	0.999905	D;P;P;P;P	0.76494	0.999;0.906;0.924;0.867;0.955	D;P;P;P;P	0.83275	0.996;0.851;0.756;0.756;0.782	T	0.13361	-1.0512	10	0.16896	T	0.51	-16.0538	9.3189	0.37952	0.0:0.8403:0.0:0.1597	.	538;445;571;555;560	Q86YQ3;Q96SU4-3;B1AKJ7;Q96SU4;B1AKJ6	.;.;.;OSBL9_HUMAN;.	F	542;573;560;565;390;555;538;474;390;445;377;377	ENSP00000360779:L542F;ENSP00000360775:L573F;ENSP00000337265:L560F;ENSP00000412733:L565F;ENSP00000402646:L390F;ENSP00000407168:L555F;ENSP00000413263:L538F;ENSP00000433675:L474F;ENSP00000433083:L390F;ENSP00000354970:L445F;ENSP00000433279:L377F;ENSP00000431980:L377F	ENSP00000337265:L560F	L	+	1	0	OSBPL9	52022562	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.759000	0.55227	2.780000	0.95670	0.655000	0.94253	CTC	OSBPL9	-	pfam_Oxysterol-bd	ENSG00000117859		0.488	OSBPL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OSBPL9	HGNC	protein_coding	OTTHUMT00000022584.4	113	0.00	0	C			52249974	52249974	+1	no_errors	ENST00000371710	ensembl	human	known	69_37n	missense	68	45.16	56	SNP	1.000	T
OSGIN2	734	genome.wustl.edu	37	8	90937001	90937001	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:90937001C>G	ENST00000297438.2	+	6	1114	c.759C>G	c.(757-759)ctC>ctG	p.L253L	OSGIN2_ENST00000451899.2_Silent_p.L297L	NM_004337.2	NP_004328.1	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family member 2	253					meiotic nuclear division (GO:0007126)					breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(11;0.0344)			CCTTCTGCCTCTTTGCTGAGA	0.433																																						dbGAP											0													76.0	74.0	75.0					8																	90937001		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF061326	CCDS6248.1, CCDS47888.1	8q21	2006-10-05	2006-10-05	2006-10-05	ENSG00000164823	ENSG00000164823			1355	protein-coding gene	gene with protein product		604598	"""chromosome 8 open reading frame 1"""	C8orf1		9933573	Standard	NM_004337		Approved	hT41	uc003yeh.3	Q9Y236	OTTHUMG00000163811	ENST00000297438.2:c.759C>G	8.37:g.90937001C>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.L297	ENST00000297438.2	37	c.891	CCDS6248.1	8																																																																																			OSGIN2	-	NULL	ENSG00000164823		0.433	OSGIN2-002	KNOWN	basic|CCDS	protein_coding	OSGIN2	HGNC	protein_coding	OTTHUMT00000375691.1	77	0.00	0	C	NM_004337		90937001	90937001	+1	no_errors	ENST00000451899	ensembl	human	known	69_37n	silent	71	25.26	24	SNP	0.997	G
OSR1	130497	genome.wustl.edu	37	2	19553095	19553095	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	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																																						dbGAP											0													79.0	80.0	80.0					2																	19553095		2203	4300	6503	-	-	-	SO:0001583	missense	0			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 GAIIx	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	ENSG00000143867		0.607	OSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSR1	HGNC	protein_coding	OTTHUMT00000201432.2	91	0.00	0	G	NM_145260		19553095	19553095	-1	no_errors	ENST00000272223	ensembl	human	known	69_37n	missense	61	19.74	15	SNP	1.000	C
OTC	5009	genome.wustl.edu	37	X	38262976	38262976	+	Nonsense_Mutation	SNP	C	C	T	rs72558423		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:38262976C>T	ENST00000039007.4	+	6	798	c.646C>T	c.(646-648)Cag>Tag	p.Q216*	TM4SF2_ENST00000465127.1_Intron	NM_000531.5	NP_000522.3	P00480	OTC_HUMAN	ornithine carbamoyltransferase	216			Q -> E (in OTCD). {ECO:0000269|PubMed:2474822}.		ammonia homeostasis (GO:0097272)|arginine biosynthetic process (GO:0006526)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|liver development (GO:0001889)|midgut development (GO:0007494)|ornithine catabolic process (GO:0006593)|protein homotrimerization (GO:0070207)|response to biotin (GO:0070781)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|ornithine carbamoyltransferase activity (GO:0004585)|phosphate ion binding (GO:0042301)|phospholipid binding (GO:0005543)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	AATGCACCTTCAGGCAGCTAC	0.463																																						dbGAP											0			GRCh37	CM890091	OTC	M	rs72558423						100.0	82.0	88.0					X																	38262976		2202	4300	6502	-	-	-	SO:0001587	stop_gained	0			K02100	CCDS14247.1	Xp21.1	2014-06-28			ENSG00000036473	ENSG00000036473	2.1.3.3		8512	protein-coding gene	gene with protein product		300461					Standard	NM_000531		Approved		uc004def.4	P00480	OTTHUMG00000022727	ENST00000039007.4:c.646C>T	X.37:g.38262976C>T	ENSP00000039007:p.Gln216*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9P2|D3DWB0|Q3KNR1|Q6B0I1|Q9NYJ5	Nonsense_Mutation	SNP	pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_Asp/Orn_carbamoyltranf_P-bd,superfamily_Asp/Orn_carbamoylTrfase,prints_Orn/put_carbamltrans,prints_Asp/Orn_carbamoylTrfase,prints_Asp_carbamoyltransf_euk,tigrfam_Orn/put_carbamltrans	p.Q216*	ENST00000039007.4	37	c.646	CCDS14247.1	X	.	.	.	.	.	.	.	.	.	.	c	36	5.709378	0.96821	.	.	ENSG00000036473	ENST00000039007	.	.	.	5.92	5.92	0.95590	.	0.206092	0.48767	D	0.000172	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-21.009	15.6439	0.77033	0.1374:0.8626:0.0:0.0	.	.	.	.	X	216	.	ENSP00000039007:Q216X	Q	+	1	0	OTC	38147920	1.000000	0.71417	0.997000	0.53966	0.913000	0.54294	3.763000	0.55257	2.492000	0.84095	0.600000	0.82982	CAG	OTC	-	pfam_Asp_carbamoyltransf_Asp/Orn-bd,superfamily_Asp/Orn_carbamoylTrfase,tigrfam_Orn/put_carbamltrans	ENSG00000036473		0.463	OTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTC	HGNC	protein_coding	OTTHUMT00000059006.2	59	0.00	0	C			38262976	38262976	+1	no_errors	ENST00000039007	ensembl	human	known	69_37n	nonsense	65	23.53	20	SNP	0.728	T
OTOGL	283310	genome.wustl.edu	37	12	80699471	80699471	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:80699471G>C	ENST00000547103.1	+	28	3308	c.3302G>C	c.(3301-3303)gGa>gCa	p.G1101A	OTOGL_ENST00000458043.2_Missense_Mutation_p.G1101A			Q3ZCN5	OTOGL_HUMAN	otogelin-like	1101	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TGGGCATTAGGACAGGTAAGT	0.289																																						dbGAP											0													84.0	80.0	81.0					12																	80699471		1809	4071	5880	-	-	-	SO:0001583	missense	0			AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.3302G>C	12.37:g.80699471G>C	ENSP00000447211:p.Gly1101Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.G1101A	ENST00000547103.1	37	c.3302		12	.	.	.	.	.	.	.	.	.	.	G	12.82	2.053787	0.36277	.	.	ENSG00000165899	ENST00000547103;ENST00000458043	T;T	0.15256	2.44;2.44	5.89	5.89	0.94794	.	.	.	.	.	T	0.21674	0.0522	L	0.37750	1.13	0.80722	D	1	.	.	.	.	.	.	T	0.01059	-1.1465	7	0.06757	T	0.87	.	20.2576	0.98430	0.0:0.0:1.0:0.0	.	.	.	.	A	1101	ENSP00000447211:G1101A;ENSP00000400895:G1101A	ENSP00000400895:G1101A	G	+	2	0	OTOGL	79223602	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.198000	0.94994	2.783000	0.95769	0.655000	0.94253	GGA	OTOGL	-	NULL	ENSG00000165899		0.289	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	OTOGL	HGNC	protein_coding	OTTHUMT00000407438.1	109	0.00	0	G	NM_173591		80699471	80699471	+1	no_errors	ENST00000458043	ensembl	human	known	69_37n	missense	95	17.39	20	SNP	1.000	C
OTOGL	283310	genome.wustl.edu	37	12	80730309	80730309	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:80730309C>G	ENST00000547103.1	+	39	4660	c.4654C>G	c.(4654-4656)Cat>Gat	p.H1552D	OTOGL_ENST00000458043.2_Missense_Mutation_p.H1564D			Q3ZCN5	OTOGL_HUMAN	otogelin-like	1552	VWFD 4. {ECO:0000255|PROSITE- ProRule:PRU00580}.				L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TATAGTTGCTCATATCGAAAA	0.333																																						dbGAP											0													75.0	72.0	73.0					12																	80730309		1817	4082	5899	-	-	-	SO:0001583	missense	0			AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.4654C>G	12.37:g.80730309C>G	ENSP00000447211:p.His1552Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.H1564D	ENST00000547103.1	37	c.4690		12	.	.	.	.	.	.	.	.	.	.	C	17.00	3.277280	0.59758	.	.	ENSG00000165899	ENST00000547103;ENST00000458043	T;T	0.58060	0.36;0.36	5.58	5.58	0.84498	.	.	.	.	.	T	0.69278	0.3093	M	0.72894	2.215	0.28678	N	0.905231	.	.	.	.	.	.	T	0.65170	-0.6233	7	0.59425	D	0.04	.	19.9414	0.97163	0.0:1.0:0.0:0.0	.	.	.	.	D	1552;1564	ENSP00000447211:H1552D;ENSP00000400895:H1564D	ENSP00000400895:H1564D	H	+	1	0	OTOGL	79254440	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	2.708000	0.47152	2.779000	0.95612	0.650000	0.86243	CAT	OTOGL	-	pfam_VWF_type-D,smart_VWF_type-D	ENSG00000165899		0.333	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	OTOGL	HGNC	protein_coding	OTTHUMT00000407438.1	103	0.00	0	C	NM_173591		80730309	80730309	+1	no_errors	ENST00000458043	ensembl	human	known	69_37n	missense	70	24.73	23	SNP	1.000	G
OTOGL	283310	genome.wustl.edu	37	12	80771627	80771627	+	Splice_Site	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:80771627G>A	ENST00000547103.1	+	58	6804		c.e58-1		OTOGL_ENST00000458043.2_Splice_Site|OTOGL_ENST00000546620.1_Splice_Site			Q3ZCN5	OTOGL_HUMAN	otogelin-like						L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						ACTTCTTACAGATAAATGTTG	0.323																																						dbGAP											0													54.0	49.0	50.0					12																	80771627		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.6799-1G>A	12.37:g.80771627G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	F8W0C3|Q495U8|Q8N8G5|Q8NC28	Splice_Site	SNP	-	e58-1	ENST00000547103.1	37	c.6835-1		12	.	.	.	.	.	.	.	.	.	.	G	21.9	4.220458	0.79464	.	.	ENSG00000165899	ENST00000547103;ENST00000458043;ENST00000298820;ENST00000546620	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7992	0.96500	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	OTOGL	79295758	1.000000	0.71417	0.970000	0.41538	0.870000	0.49936	9.391000	0.97249	2.665000	0.90641	0.591000	0.81541	.	OTOGL	-	-	ENSG00000165899		0.323	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	OTOGL	HGNC	protein_coding	OTTHUMT00000407438.1	70	0.00	0	G	NM_173591	Intron	80771627	80771627	+1	no_errors	ENST00000458043	ensembl	human	known	69_37n	splice_site	64	13.51	10	SNP	1.000	A
OTUD7B	56957	genome.wustl.edu	37	1	149939379	149939379	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:149939379G>C	ENST00000369135.4	-	4	636	c.342C>G	c.(340-342)gtC>gtG	p.V114V	OTUD7B_ENST00000479905.1_Intron	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	114					mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			CATTGGAGGAGACATGGGACC	0.542																																						dbGAP											0													59.0	64.0	62.0					1																	149939379		1949	4147	6096	-	-	-	SO:0001819	synonymous_variant	0			AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"""OTU domain containing"""	16683	protein-coding gene	gene with protein product		611748	"""zinc finger, A20 domain containing 1"", ""OTU domain containing 7B"""	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.342C>G	1.37:g.149939379G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Silent	SNP	pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20	p.V114	ENST00000369135.4	37	c.342	CCDS41389.1	1																																																																																			OTUD7B	-	NULL	ENSG00000163113		0.542	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTUD7B	HGNC	protein_coding	OTTHUMT00000034146.3	40	0.00	0	G	NM_020205		149939379	149939379	-1	no_errors	ENST00000369135	ensembl	human	known	69_37n	silent	35	33.96	18	SNP	1.000	C
OVCH1	341350	genome.wustl.edu	37	12	29604478	29604478	+	Missense_Mutation	SNP	T	T	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:29604478T>G	ENST00000318184.5	-	22	2554	c.2555A>C	c.(2554-2556)gAa>gCa	p.E852A	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	852	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TCTAGGCTTTTCTAGCTCTGC	0.438																																						dbGAP											0													46.0	43.0	44.0					12																	29604478		1843	4099	5942	-	-	-	SO:0001583	missense	0			BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.2555A>C	12.37:g.29604478T>G	ENSP00000326708:p.Glu852Ala	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_CUB,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,smart_Peptidase_S1_S6,smart_CUB,prints_Peptidase_S1A,pfscan_CUB,pfscan_Peptidase_S1_S6	p.E852A	ENST00000318184.5	37	c.2555		12	.	.	.	.	.	.	.	.	.	.	T	0.202	-1.044145	0.01997	.	.	ENSG00000187950	ENST00000318184	T	0.34275	1.37	3.02	1.78	0.24846	CUB (5);	.	.	.	.	T	0.17916	0.0430	N	0.19112	0.55	0.09310	N	1	P	0.42757	0.789	B	0.37780	0.258	T	0.08351	-1.0726	9	0.18276	T	0.48	.	4.3768	0.11274	0.0:0.1883:0.0:0.8117	.	852	Q7RTY7	OVCH1_HUMAN	A	852	ENSP00000326708:E852A	ENSP00000326708:E852A	E	-	2	0	OVCH1	29495745	0.567000	0.26626	0.002000	0.10522	0.043000	0.13939	1.468000	0.35332	0.499000	0.27970	0.459000	0.35465	GAA	OVCH1	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB	ENSG00000187950		0.438	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	OVCH1	HGNC	protein_coding	OTTHUMT00000395997.2	51	0.00	0	T	NM_183378		29604478	29604478	-1	no_errors	ENST00000318184	ensembl	human	known	69_37n	missense	47	42.68	35	SNP	0.003	G
P4HTM	54681	genome.wustl.edu	37	3	49028331	49028331	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:49028331C>G	ENST00000383729.4	+	2	791	c.420C>G	c.(418-420)ctC>ctG	p.L140L	P4HTM_ENST00000609406.1_3'UTR|RP13-131K19.2_ENST00000452042.1_RNA|P4HTM_ENST00000343546.4_Silent_p.L140L	NM_177939.2	NP_808808.1	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	140						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|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)			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	CCCTCAGCCTCAAGCCGCTGC	0.632																																						dbGAP											0													66.0	45.0	52.0					3																	49028331		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS2781.2, CCDS43089.1	3p21.31	2009-01-14			ENSG00000178467	ENSG00000178467			28858	protein-coding gene	gene with protein product	"""Prolyl hydroxlase domain-containing 4"", ""hypoxia inducible factor prolyl 4 hydroxylase"""	614584				12163023, 17726031	Standard	XR_245139		Approved	P4H-TM, PHD4, PH4, HIFPH4, FLJ20262, EGLN4, PH-4	uc003cvh.3	Q9NXG6	OTTHUMG00000074057	ENST00000383729.4:c.420C>G	3.37:g.49028331C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6PAG6|Q8TCJ9|Q8WV55|Q96F22|Q9BW77	Missense_Mutation	SNP	NULL	p.Q92E	ENST00000383729.4	37	c.274	CCDS43089.1	3	.	.	.	.	.	.	.	.	.	.	C	10.02	1.235236	0.22626	.	.	ENSG00000178467	ENST00000444213	.	.	.	4.55	1.47	0.22746	.	.	.	.	.	T	0.68751	0.3035	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67492	-0.5657	4	.	.	.	-23.1893	15.2119	0.73230	0.0:0.4618:0.5382:0.0	.	.	.	.	E	92	.	.	Q	+	1	0	P4HTM	49003335	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.533000	0.45667	0.323000	0.23307	0.462000	0.41574	CAA	P4HTM	-	NULL	ENSG00000178467		0.632	P4HTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P4HTM	HGNC	protein_coding	OTTHUMT00000157211.1	23	0.00	0	C	NM_177938		49028331	49028331	+1	no_start_codon:pseudogene:no_stop_codon	ENST00000444213	ensembl	human	putative	69_37n	missense	27	22.86	8	SNP	1.000	G
PABPC1L	80336	genome.wustl.edu	37	20	43545421	43545421	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:43545421C>T	ENST00000217073.2	+	3	412	c.412C>T	c.(412-414)Cgg>Tgg	p.R138W	PABPC1L_ENST00000255136.3_Missense_Mutation_p.R138W|PABPC1L_ENST00000537323.1_Missense_Mutation_p.R138W|PABPC1L_ENST00000217074.4_Missense_Mutation_p.R138W			Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	138	RRM 2. {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)	p.R138R(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						GCATGGCTCCCGGGGTTTCGG	0.562																																						dbGAP											1	Substitution - coding silent(1)	lung(1)											154.0	139.0	144.0					20																	43545421		1568	3582	5150	-	-	-	SO:0001583	missense	0			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.412C>T	20.37:g.43545421C>T	ENSP00000217073:p.Arg138Trp	Somatic		WXS	Illumina GAIIx	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.R138W	ENST00000217073.2	37	c.412	CCDS42878.1	20	.	.	.	.	.	.	.	.	.	.	C	17.28	3.349762	0.61183	.	.	ENSG00000101104	ENST00000217074;ENST00000255136;ENST00000537323;ENST00000217073	T;T;T;T	0.19806	2.12;2.12;2.12;2.12	5.11	5.11	0.69529	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.050839	0.85682	D	0.000000	T	0.57932	0.2087	H	0.95745	3.715	0.47407	D	0.999416	D	0.89917	1.0	D	0.77004	0.989	T	0.70773	-0.4781	10	0.87932	D	0	.	13.5114	0.61515	0.1562:0.8438:0.0:0.0	.	138	Q4VXU2	PAP1L_HUMAN	W	138	ENSP00000217074:R138W;ENSP00000255136:R138W;ENSP00000445661:R138W;ENSP00000217073:R138W	ENSP00000217073:R138W	R	+	1	2	PABPC1L	42978835	0.983000	0.35010	0.999000	0.59377	0.382000	0.30200	2.589000	0.46145	2.375000	0.81037	0.563000	0.77884	CGG	PABPC1L	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234	ENSG00000101104		0.562	PABPC1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PABPC1L	HGNC	protein_coding	OTTHUMT00000127816.2	55	0.00	0	C			43545421	43545421	+1	no_errors	ENST00000217073	ensembl	human	known	69_37n	missense	64	15.79	12	SNP	1.000	T
PABPC1L	80336	genome.wustl.edu	37	20	43561819	43561819	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:43561819G>C	ENST00000217073.2	+	10	1437	c.1437G>C	c.(1435-1437)caG>caC	p.Q479H	PABPC1L_ENST00000255136.3_Missense_Mutation_p.Q479H|PABPC1L_ENST00000537323.1_3'UTR|PABPC1L_ENST00000217075.2_Missense_Mutation_p.Q33H|PABPC1L_ENST00000490798.1_Intron|PABPC1L_ENST00000372824.1_Missense_Mutation_p.Q33H|PABPC1L_ENST00000372819.1_Missense_Mutation_p.Q33H			Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	479					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						CTCATACCCAGAGAGTAGGTG	0.642																																						dbGAP											0													19.0	21.0	21.0					20																	43561819		1568	3581	5149	-	-	-	SO:0001583	missense	0			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.1437G>C	20.37:g.43561819G>C	ENSP00000217073:p.Gln479His	Somatic		WXS	Illumina GAIIx	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.Q479H	ENST00000217073.2	37	c.1437	CCDS42878.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.663|9.663	1.144604|1.144604	0.21288|0.21288	.|.	.|.	ENSG00000101104|ENSG00000101104	ENST00000255136;ENST00000421240;ENST00000372821;ENST00000217073;ENST00000372824;ENST00000372819;ENST00000217075|ENST00000372826	T;T;T;T;T|.	0.52754|.	2.22;2.22;0.7;0.7;0.65|.	5.8|5.8	-7.12|-7.12	0.01537|0.01537	Polyadenylate-binding protein/Hyperplastic disc protein (1);|.	0.177271|.	0.51477|.	D|.	0.000085|.	T|T	0.60495|0.60495	0.2273|0.2273	L|L	0.39898|0.39898	1.24|1.24	0.48511|0.48511	D|D	0.999661|0.999661	P;D|.	0.76494|.	0.901;0.999|.	B;D|.	0.65874|.	0.401;0.939|.	T|T	0.61466|0.61466	-0.7057|-0.7057	10|5	0.40728|.	T|.	0.16|.	.|.	20.1318|20.1318	0.98001|0.98001	0.1877:0.0:0.8123:0.0|0.1877:0.0:0.8123:0.0	.|.	479;33|.	Q4VXU2;G5E9L3|.	PAP1L_HUMAN;.|.	H|T	479;33;33;479;33;33;33|15	ENSP00000255136:Q479H;ENSP00000217073:Q479H;ENSP00000361911:Q33H;ENSP00000361906:Q33H;ENSP00000217075:Q33H|.	ENSP00000217073:Q479H|.	Q|R	+|+	3|2	2|0	PABPC1L|PABPC1L	42995233|42995233	1.000000|1.000000	0.71417|0.71417	0.040000|0.040000	0.18447|0.18447	0.132000|0.132000	0.20833|0.20833	0.677000|0.677000	0.25262|0.25262	-1.416000|-1.416000	0.02019|0.02019	-0.793000|-0.793000	0.03317|0.03317	CAG|AGA	PABPC1L	-	superfamily_PABP_HYD,tigrfam_PABP_1234	ENSG00000101104		0.642	PABPC1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PABPC1L	HGNC	protein_coding	OTTHUMT00000127816.2	25	0.00	0	G			43561819	43561819	+1	no_errors	ENST00000217073	ensembl	human	known	69_37n	missense	32	15.79	6	SNP	0.211	C
PACS2	23241	genome.wustl.edu	37	14	105858085	105858085	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:105858085G>A	ENST00000325438.8	+	21	2696	c.2192G>A	c.(2191-2193)gGa>gAa	p.G731E	PACS2_ENST00000447393.1_Missense_Mutation_p.G735E|PACS2_ENST00000458164.2_Missense_Mutation_p.G746E|PACS2_ENST00000551743.1_Missense_Mutation_p.G245E|PACS2_ENST00000551801.1_5'UTR|PACS2_ENST00000547217.1_Missense_Mutation_p.G701E|PACS2_ENST00000430725.2_Missense_Mutation_p.G656E			Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	731					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to plasma membrane (GO:0072661)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		TCGGTGAGCGGAGGCCTGTCC	0.677																																						dbGAP											0													15.0	16.0	16.0					14																	105858085		2190	4288	6478	-	-	-	SO:0001583	missense	0			AB011174	CCDS32168.1, CCDS45178.1, CCDS45178.2, CCDS58339.1	14q32	2005-02-15	2005-02-15	2005-02-15		ENSG00000179364			23794	protein-coding gene	gene with protein product		610423	"""phosphofurin acidic cluster sorting protein 1-like"""	PACS1L		15692567	Standard	NM_001100913		Approved	KIAA0602	uc001yqu.3	Q86VP3	OTTHUMG00000170450	ENST00000325438.8:c.2192G>A	14.37:g.105858085G>A	ENSP00000321834:p.Gly731Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A2VDJ9|G8JLK3|O60342|Q6P191|Q96FL7	Missense_Mutation	SNP	pfam_Phosphofurin_acidic_CS-1	p.G746E	ENST00000325438.8	37	c.2237	CCDS32168.1	14	.	.	.	.	.	.	.	.	.	.	G	13.87	2.366427	0.41902	.	.	ENSG00000179364	ENST00000430725;ENST00000325438;ENST00000458164;ENST00000447393;ENST00000547217;ENST00000551743	T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06	4.71	4.71	0.59529	.	0.477834	0.22074	N	0.064997	T	0.45597	0.1350	L	0.34521	1.04	0.31599	N	0.652975	P;P;D;P	0.61697	0.772;0.731;0.99;0.763	B;B;P;B	0.61658	0.424;0.299;0.892;0.173	T	0.33929	-0.9849	10	0.02654	T	1	-12.5467	16.1866	0.81959	0.0:0.0:1.0:0.0	.	735;746;731;732	E9PB38;Q86VP3-2;Q86VP3;Q86VP3-3	.;.;PACS2_HUMAN;.	E	656;731;746;735;701;245	ENSP00000393524:G656E;ENSP00000321834:G731E;ENSP00000399732:G746E;ENSP00000393559:G735E;ENSP00000449525:G701E;ENSP00000449254:G245E	ENSP00000321834:G731E	G	+	2	0	PACS2	104929130	0.785000	0.28726	0.902000	0.35471	0.942000	0.58702	3.070000	0.50033	2.156000	0.67533	0.462000	0.41574	GGA	PACS2	-	pfam_Phosphofurin_acidic_CS-1	ENSG00000179364		0.677	PACS2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PACS2	HGNC	protein_coding	OTTHUMT00000409209.1	17	0.00	0	G	XM_377355		105858085	105858085	+1	no_errors	ENST00000458164	ensembl	human	known	69_37n	missense	8	38.46	5	SNP	0.973	A
PACS2	23241	genome.wustl.edu	37	14	105860932	105860932	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:105860932C>T	ENST00000325438.8	+	24	3097	c.2593C>T	c.(2593-2595)Cag>Tag	p.Q865*	PACS2_ENST00000447393.1_Nonsense_Mutation_p.Q869*|PACS2_ENST00000458164.2_Nonsense_Mutation_p.Q880*|PACS2_ENST00000551743.1_Nonsense_Mutation_p.Q379*|PACS2_ENST00000551801.1_Nonsense_Mutation_p.Q66*|PACS2_ENST00000547217.1_Nonsense_Mutation_p.Q835*|PACS2_ENST00000430725.2_Nonsense_Mutation_p.Q790*			Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	865					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to plasma membrane (GO:0072661)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		CAAGTTCTTCCAGCTGGCCGC	0.672																																						dbGAP											0													135.0	102.0	113.0					14																	105860932		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB011174	CCDS32168.1, CCDS45178.1, CCDS45178.2, CCDS58339.1	14q32	2005-02-15	2005-02-15	2005-02-15		ENSG00000179364			23794	protein-coding gene	gene with protein product		610423	"""phosphofurin acidic cluster sorting protein 1-like"""	PACS1L		15692567	Standard	NM_001100913		Approved	KIAA0602	uc001yqu.3	Q86VP3	OTTHUMG00000170450	ENST00000325438.8:c.2593C>T	14.37:g.105860932C>T	ENSP00000321834:p.Gln865*	Somatic		WXS	Illumina GAIIx	Phase_IV	A2VDJ9|G8JLK3|O60342|Q6P191|Q96FL7	Nonsense_Mutation	SNP	pfam_Phosphofurin_acidic_CS-1	p.Q880*	ENST00000325438.8	37	c.2638	CCDS32168.1	14	.	.	.	.	.	.	.	.	.	.	C	37	6.226765	0.97394	.	.	ENSG00000179364	ENST00000430725;ENST00000325438;ENST00000458164;ENST00000447393;ENST00000547217;ENST00000551743;ENST00000551801	.	.	.	4.11	4.11	0.48088	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-34.8245	15.285	0.73822	0.0:1.0:0.0:0.0	.	.	.	.	X	790;865;880;869;835;379;66	.	ENSP00000321834:Q865X	Q	+	1	0	PACS2	104931977	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.666000	0.83877	2.003000	0.58678	0.655000	0.94253	CAG	PACS2	-	pfam_Phosphofurin_acidic_CS-1	ENSG00000179364		0.672	PACS2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PACS2	HGNC	protein_coding	OTTHUMT00000409209.1	36	0.00	0	C	XM_377355		105860932	105860932	+1	no_errors	ENST00000458164	ensembl	human	known	69_37n	nonsense	28	28.21	11	SNP	1.000	T
PAICS	10606	genome.wustl.edu	37	4	57307916	57307916	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:57307916C>T	ENST00000512576.1	+	2	265	c.104C>T	c.(103-105)tCc>tTc	p.S35F	PAICS_ENST00000514888.1_5'UTR|PAICS_ENST00000264221.2_Missense_Mutation_p.S35F|PAICS_ENST00000399688.3_Missense_Mutation_p.S35F	NM_001079524.1	NP_001072992.1	P22234	PUR6_HUMAN	phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase	35	SAICAR synthetase.				'de novo' IMP biosynthetic process (GO:0006189)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|phosphoribosylaminoimidazole carboxylase activity (GO:0004638)|phosphoribosylaminoimidazolesuccinocarboxamide synthase activity (GO:0004639)			endometrium(1)|kidney(2)|large_intestine(1)|urinary_tract(1)	5	Glioma(25;0.08)|all_neural(26;0.101)				L-Aspartic Acid(DB00128)	CTCCTGCAGTCCAAGGACCAG	0.363																																					GBM(53;429 1144 8755 40726)	dbGAP											0													40.0	37.0	38.0					4																	57307916		1824	4077	5901	-	-	-	SO:0001583	missense	0			X53793	CCDS47060.1, CCDS47061.1	4q12	2012-07-13			ENSG00000128050	ENSG00000128050	4.1.1.21, 6.3.2.6		8587	protein-coding gene	gene with protein product		172439		PAIS		2253271, 8106516	Standard	NM_006452		Approved	ADE2H1, AIRC	uc003hbt.1	P22234	OTTHUMG00000160957	ENST00000512576.1:c.104C>T	4.37:g.57307916C>T	ENSP00000421096:p.Ser35Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PDH9|Q68CQ5	Missense_Mutation	SNP	pfam_SAICAR_synth,pfam_N5-CAIR_Mutase_PurE_dom,superfamily_N5-CAIR_Mutase_PurE_dom,tigrfam_N5-CAIR_Mutase_PurE_dom	p.S35F	ENST00000512576.1	37	c.104	CCDS47061.1	4	.	.	.	.	.	.	.	.	.	.	C	17.44	3.391298	0.62066	.	.	ENSG00000128050	ENST00000264221;ENST00000505164;ENST00000399688;ENST00000512576	T;T;T;T	0.38401	1.14;1.14;1.14;1.14	5.53	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.24699	0.0599	N	0.12569	0.235	0.80722	D	1	B;B;B	0.28783	0.091;0.185;0.222	B;B;B	0.32090	0.139;0.14;0.139	T	0.07252	-1.0782	10	0.38643	T	0.18	-11.1834	14.7061	0.69191	0.0:0.9302:0.0:0.0698	.	35;35;35	E9PBS1;P22234-2;P22234	.;.;PUR6_HUMAN	F	35	ENSP00000264221:S35F;ENSP00000424053:S35F;ENSP00000382595:S35F;ENSP00000421096:S35F	ENSP00000264221:S35F	S	+	2	0	PAICS	57002673	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.593000	0.82686	1.489000	0.48450	-0.145000	0.13849	TCC	PAICS	-	pfam_SAICAR_synth	ENSG00000128050		0.363	PAICS-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PAICS	HGNC	protein_coding	OTTHUMT00000363136.2	57	0.00	0	C	NM_006452		57307916	57307916	+1	no_errors	ENST00000264221	ensembl	human	known	69_37n	missense	31	39.22	20	SNP	1.000	T
PAK1	5058	genome.wustl.edu	37	11	77051693	77051693	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:77051693C>T	ENST00000356341.3	-	11	1645	c.1114G>A	c.(1114-1116)Gag>Aag	p.E372K	PAK1_ENST00000530617.1_Missense_Mutation_p.E372K|PAK1_ENST00000528203.1_Missense_Mutation_p.E274K|PAK1_ENST00000278568.4_Missense_Mutation_p.E372K|PAK1_ENST00000525542.1_5'UTR	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	372	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to insulin stimulus (GO:0032869)|dendrite development (GO:0016358)|exocytosis (GO:0006887)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor clustering (GO:0043113)|response to hypoxia (GO:0001666)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|wound healing (GO:0042060)	axon (GO:0030424)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|Z disc (GO:0030018)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					GGCCTTACCTCACGGCACACA	0.522																																						dbGAP											0													214.0	192.0	199.0					11																	77051693		2200	4292	6492	-	-	-	SO:0001583	missense	0			U51120	CCDS8250.1, CCDS44687.1	11q13-q14	2008-06-17	2008-06-17						8590	protein-coding gene	gene with protein product	"""STE20 homolog, yeast"""	602590	"""p21/Cdc42/Rac1-activated kinase 1 (yeast Ste20-related)"", ""p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast)"""			8805275, 9533029	Standard	NM_002576		Approved		uc001oyg.4	Q13153		ENST00000356341.3:c.1114G>A	11.37:g.77051693C>T	ENSP00000348696:p.Glu372Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O75561|Q13567|Q32M53|Q32M54|Q86W79	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,superfamily_WASP_C,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom	p.E372K	ENST00000356341.3	37	c.1114	CCDS8250.1	11	.	.	.	.	.	.	.	.	.	.	C	36	5.644761	0.96704	.	.	ENSG00000149269	ENST00000356341;ENST00000530617;ENST00000278568;ENST00000528203	T;T;T;T	0.14893	2.47;2.47;2.47;2.47	5.57	5.57	0.84162	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.39517	0.1081	L	0.49640	1.575	0.80722	D	1	D;D;D;D	0.76494	0.997;0.999;0.998;0.997	D;D;D;D	0.80764	0.994;0.991;0.991;0.978	T	0.08764	-1.0706	10	0.87932	D	0	.	19.5508	0.95319	0.0:1.0:0.0:0.0	.	274;372;372;372	E9PM17;B3KNX7;Q13153;Q13153-2	.;.;PAK1_HUMAN;.	K	372;372;372;274	ENSP00000348696:E372K;ENSP00000433423:E372K;ENSP00000278568:E372K;ENSP00000433211:E274K	ENSP00000278568:E372K	E	-	1	0	PAK1	76729341	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.487000	0.81328	2.628000	0.89032	0.460000	0.39030	GAG	PAK1	-	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	ENSG00000149269		0.522	PAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAK1	HGNC	protein_coding	OTTHUMT00000382083.2	88	0.00	0	C	NM_002576		77051693	77051693	-1	no_errors	ENST00000278568	ensembl	human	known	69_37n	missense	52	48.51	49	SNP	1.000	T
PAK3	5063	genome.wustl.edu	37	X	110406824	110406824	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:110406824C>T	ENST00000372010.1	+	11	1122	c.680C>T	c.(679-681)tCa>tTa	p.S227L	PAK3_ENST00000372007.5_Missense_Mutation_p.S212L|PAK3_ENST00000425146.1_Missense_Mutation_p.S212L|PAK3_ENST00000518291.1_Missense_Mutation_p.S248L|PAK3_ENST00000360648.4_Missense_Mutation_p.S248L|PAK3_ENST00000262836.4_Missense_Mutation_p.S227L|PAK3_ENST00000519681.1_Missense_Mutation_p.S233L|PAK3_ENST00000417227.1_Missense_Mutation_p.S233L|PAK3_ENST00000446737.1_Missense_Mutation_p.S212L			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	227	Linker.				activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						TCCATTGCTTCACCAGCAGTA	0.408										TSP Lung(19;0.15)																												dbGAP											0													141.0	128.0	132.0					X																	110406824		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"""mental retardation, X-linked 47"", ""p21 (CDKN1A)-activated kinase 3"""	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.680C>T	X.37:g.110406824C>T	ENSP00000361080:p.Ser227Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom	p.S248L	ENST00000372010.1	37	c.743	CCDS48153.1	X	.	.	.	.	.	.	.	.	.	.	C	9.794	1.178714	0.21787	.	.	ENSG00000077264	ENST00000446737;ENST00000425146;ENST00000372010;ENST00000519681;ENST00000372007;ENST00000518291;ENST00000360648;ENST00000417227;ENST00000262836	T;T;T;T;T;T;T;T;T	0.72394	-0.64;-0.64;-0.65;-0.65;-0.64;-0.65;-0.65;-0.65;-0.65	5.95	3.88	0.44766	.	0.524293	0.20708	N	0.087143	T	0.46483	0.1395	N	0.04203	-0.255	0.26065	N	0.981305	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.0	T	0.30707	-0.9969	10	0.25751	T	0.34	.	11.3527	0.49598	0.0:0.8251:0.0:0.1749	.	233;248;227;212	O75914-4;O75914-3;O75914;O75914-2	.;.;PAK3_HUMAN;.	L	212;212;227;233;212;248;248;233;227	ENSP00000410853:S212L;ENSP00000401982:S212L;ENSP00000361080:S227L;ENSP00000429113:S233L;ENSP00000361077:S212L;ENSP00000428921:S248L;ENSP00000353864:S248L;ENSP00000389172:S233L;ENSP00000262836:S227L	ENSP00000262836:S227L	S	+	2	0	PAK3	110293480	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.576000	0.36504	1.271000	0.44313	0.594000	0.82650	TCA	PAK3	-	NULL	ENSG00000077264		0.408	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAK3	HGNC	protein_coding	OTTHUMT00000057918.1	175	0.00	0	C	NM_002578		110406824	110406824	+1	no_errors	ENST00000360648	ensembl	human	known	69_37n	missense	102	29.17	42	SNP	0.997	T
PAK4	10298	genome.wustl.edu	37	19	39668392	39668392	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:39668392C>G	ENST00000593690.1	+	10	1990	c.1563C>G	c.(1561-1563)ctC>ctG	p.L521L	PAK4_ENST00000599470.1_Silent_p.L368L|PAK4_ENST00000358301.3_Silent_p.L521L|PAK4_ENST00000599386.1_Silent_p.L368L|PAK4_ENST00000360442.3_Silent_p.L521L|PAK4_ENST00000321944.4_Silent_p.L431L|PAK4_ENST00000435673.2_Silent_p.L521L	NM_001014831.2	NP_001014831.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	521	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			AGCCACCCCTCAAAGCCATGA	0.607																																						dbGAP											0													159.0	130.0	140.0					19																	39668392		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ011855	CCDS12528.1, CCDS33019.1	19p11-q11	2008-06-17	2008-06-17						16059	protein-coding gene	gene with protein product		605451	"""p21(CDKN1A)-activated kinase 4"""			9822598, 10461188	Standard	NM_001014831		Approved		uc002okn.1	O96013		ENST00000593690.1:c.1563C>G	19.37:g.39668392C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DGG6|Q8N4E1|Q8NCH5|Q8NDE3|Q9BU33|Q9ULS8	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom	p.L521	ENST00000593690.1	37	c.1563	CCDS12528.1	19																																																																																			PAK4	-	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	ENSG00000130669		0.607	PAK4-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PAK4	HGNC	protein_coding	OTTHUMT00000463823.1	91	0.00	0	C			39668392	39668392	+1	no_errors	ENST00000358301	ensembl	human	known	69_37n	silent	88	20.00	22	SNP	0.999	G
PAK4	10298	genome.wustl.edu	37	19	39668417	39668417	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:39668417delA	ENST00000593690.1	+	10	2015	c.1588delA	c.(1588-1590)aacfs	p.N530fs	PAK4_ENST00000599470.1_Frame_Shift_Del_p.N377fs|PAK4_ENST00000358301.3_Frame_Shift_Del_p.N530fs|PAK4_ENST00000599386.1_Frame_Shift_Del_p.N377fs|PAK4_ENST00000360442.3_Frame_Shift_Del_p.N530fs|PAK4_ENST00000321944.4_Frame_Shift_Del_p.N440fs|PAK4_ENST00000435673.2_Frame_Shift_Del_p.N530fs	NM_001014831.2	NP_001014831.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	530	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			GATTCGGGACAACCTGCCACC	0.607																																						dbGAP											0													146.0	121.0	129.0					19																	39668417		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AJ011855	CCDS12528.1, CCDS33019.1	19p11-q11	2008-06-17	2008-06-17						16059	protein-coding gene	gene with protein product		605451	"""p21(CDKN1A)-activated kinase 4"""			9822598, 10461188	Standard	NM_001014831		Approved		uc002okn.1	O96013		ENST00000593690.1:c.1588delA	19.37:g.39668417delA	ENSP00000469413:p.Asn530fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DGG6|Q8N4E1|Q8NCH5|Q8NDE3|Q9BU33|Q9ULS8	Frame_Shift_Del	DEL	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom	p.N530fs	ENST00000593690.1	37	c.1588	CCDS12528.1	19																																																																																			PAK4	-	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	ENSG00000130669		0.607	PAK4-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PAK4	HGNC	protein_coding	OTTHUMT00000463823.1	78	0.00	0	A			39668417	39668417	+1	no_errors	ENST00000358301	ensembl	human	known	69_37n	frame_shift_del	70	25.26	24	DEL	1.000	-
PAK6	56924	genome.wustl.edu	37	15	40564736	40564736	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:40564736C>T	ENST00000542403.2	+	4	1281	c.1170C>T	c.(1168-1170)ttC>ttT	p.F390F	PAK6_ENST00000260404.4_Silent_p.F390F|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000453867.1_Silent_p.F390F|PAK6_ENST00000455577.2_Silent_p.F390F|PAK6_ENST00000560346.1_Silent_p.F390F|PAK6_ENST00000441369.1_Silent_p.F390F	NM_001276717.1	NP_001263646.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	390	Linker.				apoptotic process (GO:0006915)|cytoskeleton organization (GO:0007010)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		ATGAGCAGTTCAAGGCTGCGC	0.632																																						dbGAP											0													71.0	59.0	64.0					15																	40564736		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF276893	CCDS10054.1, CCDS61590.1	15q14	2008-06-17	2008-06-17		ENSG00000137843	ENSG00000137843			16061	protein-coding gene	gene with protein product		608110	"""p21(CDKN1A)-activated kinase 6"""			11278661	Standard	NM_020168		Approved	PAK5	uc001zlb.3	Q9NQU5	OTTHUMG00000129921	ENST00000542403.2:c.1170C>T	15.37:g.40564736C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2G2|B3KYB0|G5E9R2	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom	p.F390	ENST00000542403.2	37	c.1170	CCDS10054.1	15																																																																																			PAK6	-	NULL	ENSG00000137843		0.632	PAK6-004	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	PAK6	HGNC	protein_coding	OTTHUMT00000418355.1	25	0.00	0	C			40564736	40564736	+1	no_errors	ENST00000260404	ensembl	human	known	69_37n	silent	22	24.14	7	SNP	1.000	T
PALLD	23022	genome.wustl.edu	37	4	169433221	169433221	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:169433221G>C	ENST00000505667.1	+	2	739	c.566G>C	c.(565-567)aGa>aCa	p.R189T	PALLD_ENST00000261509.6_Missense_Mutation_p.R189T|PALLD_ENST00000333488.4_Missense_Mutation_p.R66T|PALLD_ENST00000335742.7_5'UTR			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	189					cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		GCAAAGCCAAGAAACAGAAGC	0.527									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)	dbGAP											0													129.0	143.0	138.0					4																	169433221		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"""Immunoglobulin superfamily / I-set domain containing"""	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.566G>C	4.37:g.169433221G>C	ENSP00000425556:p.Arg189Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.R189T	ENST00000505667.1	37	c.566	CCDS54818.1	4	.	.	.	.	.	.	.	.	.	.	G	13.24	2.177533	0.38413	.	.	ENSG00000129116	ENST00000261509;ENST00000505667;ENST00000508898;ENST00000333488	T;T;T;T	0.71579	-0.58;-0.33;-0.52;-0.53	5.55	3.85	0.44370	.	0.226724	0.21905	U	0.067389	T	0.65037	0.2653	M	0.75264	2.295	0.80722	D	1	P;P	0.41366	0.747;0.747	B;B	0.36418	0.224;0.224	T	0.61402	-0.7070	10	0.12430	T	0.62	.	12.0658	0.53588	0.1395:0.0:0.8605:0.0	.	189;189	B7ZMM5;B2RTX2	.;.	T	189;189;168;66	ENSP00000261509:R189T;ENSP00000425556:R189T;ENSP00000423063:R168T;ENSP00000328945:R66T	ENSP00000261509:R189T	R	+	2	0	PALLD	169669796	1.000000	0.71417	0.045000	0.18777	0.038000	0.13279	2.536000	0.45693	0.731000	0.32448	0.591000	0.81541	AGA	PALLD	-	NULL	ENSG00000129116		0.527	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	PALLD	HGNC	protein_coding	OTTHUMT00000363762.1	60	0.00	0	G	NM_016081		169433221	169433221	+1	no_errors	ENST00000261509	ensembl	human	known	69_37n	missense	58	14.71	10	SNP	0.900	C
PALLD	23022	genome.wustl.edu	37	4	169847519	169847519	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:169847519G>C	ENST00000507735.1	+	12	2302	c.2002G>C	c.(2002-2004)Gaa>Caa	p.E668Q	PALLD_ENST00000261509.6_3'UTR|CBR4_ENST00000509108.1_Intron|PALLD_ENST00000335742.7_Missense_Mutation_p.E997Q|PALLD_ENST00000512127.1_Missense_Mutation_p.E773Q	NM_001166110.1	NP_001159582.1	Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	1379	Interaction with LASP1. {ECO:0000250}.|Pro-rich.				cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		TGCCTTGGTAGAAAGTGAGGA	0.463									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)	dbGAP											0													48.0	42.0	43.0					4																	169847519		692	1591	2283	-	-	-	SO:0001583	missense	0	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"""Immunoglobulin superfamily / I-set domain containing"""	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000507735.1:c.2002G>C	4.37:g.169847519G>C	ENSP00000424016:p.Glu668Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E997Q	ENST00000507735.1	37	c.2989	CCDS54820.1	4	.	.	.	.	.	.	.	.	.	.	G	14.34	2.504784	0.44558	.	.	ENSG00000129116	ENST00000335742;ENST00000512127;ENST00000507735	T;T;T	0.74421	-0.84;-0.54;-0.26	5.82	4.96	0.65561	.	.	.	.	.	T	0.74030	0.3663	M	0.74881	2.28	0.80722	D	1	B;B	0.32653	0.379;0.155	B;B	0.26517	0.07;0.03	T	0.76061	-0.3097	9	0.87932	D	0	.	16.728	0.85428	0.0:0.1294:0.8706:0.0	.	1379;773	Q8WX93;B3KTG2	PALLD_HUMAN;.	Q	997;773;668	ENSP00000336735:E997Q;ENSP00000426947:E773Q;ENSP00000424016:E668Q	ENSP00000336735:E997Q	E	+	1	0	PALLD	170084094	1.000000	0.71417	0.513000	0.27749	0.459000	0.32528	9.676000	0.98643	1.427000	0.47276	0.563000	0.77884	GAA	PALLD	-	NULL	ENSG00000129116		0.463	PALLD-005	PUTATIVE	basic|CCDS	protein_coding	PALLD	HGNC	protein_coding	OTTHUMT00000363771.3	44	0.00	0	G	NM_016081		169847519	169847519	+1	no_errors	ENST00000335742	ensembl	human	known	69_37n	missense	37	33.93	19	SNP	1.000	C
AKAP2	11217	genome.wustl.edu	37	9	112899055	112899055	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:112899055G>C	ENST00000259318.7	+	2	745	c.538G>C	c.(538-540)Gag>Cag	p.E180Q	PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.E411Q|AKAP2_ENST00000555236.1_Missense_Mutation_p.E411Q|AKAP2_ENST00000434623.2_Missense_Mutation_p.E269Q|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.E411Q|AKAP2_ENST00000374525.1_Missense_Mutation_p.E269Q|AKAP2_ENST00000510514.5_Missense_Mutation_p.E411Q	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	180										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						GGCCAAGTTTGAGCTGCGTGC	0.522																																						dbGAP											0													84.0	79.0	81.0					9																	112899055		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.538G>C	9.37:g.112899055G>C	ENSP00000259318:p.Glu180Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	pfam_Paralemmin,pfam_RII_binding_1	p.E411Q	ENST00000259318.7	37	c.1231	CCDS48003.1	9	.	.	.	.	.	.	.	.	.	.	G	23.9	4.470769	0.84533	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.70552	0.3237	M	0.70275	2.135	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.87578	0.998;0.998;0.996;0.998;0.995;0.998;0.998;0.996	T	0.70081	-0.4970	10	0.72032	D	0.01	-36.6467	19.8676	0.96824	0.0:0.0:1.0:0.0	.	180;269;263;269;270;411;411;229	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	Q	411;411;411;411;269;269;229;180	ENSP00000363654:E411Q;ENSP00000305861:E411Q;ENSP00000451476:E411Q;ENSP00000421522:E411Q;ENSP00000404782:E269Q;ENSP00000363649:E269Q;ENSP00000419268:E229Q;ENSP00000259318:E180Q	ENSP00000259318:E180Q	E	+	1	0	PALM2-AKAP2;AKAP2	111938876	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.599000	0.98280	2.941000	0.99782	0.655000	0.94253	GAG	PALM2-AKAP2	-	NULL	ENSG00000157654		0.522	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PALM2-AKAP2	HGNC	protein_coding	OTTHUMT00000346067.3	54	0.00	0	G	NM_001004065		112899055	112899055	+1	no_errors	ENST00000374530	ensembl	human	known	69_37n	missense	70	15.66	13	SNP	1.000	C
PALM3	342979	genome.wustl.edu	37	19	14165650	14165650	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:14165650G>C	ENST00000340790.4	-	6	788	c.789C>G	c.(787-789)ctC>ctG	p.L263L		NM_001145028.1	NP_001138500.1	A6NDB9	PALM3_HUMAN	paralemmin 3	263	Glu-rich.				negative regulation of cytokine-mediated signaling pathway (GO:0001960)|response to lipopolysaccharide (GO:0032496)|Toll signaling pathway (GO:0008063)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)			endometrium(1)|kidney(2)|pancreas(1)|skin(1)	5						CCCAGGCCGGGAGCTCCAGGC	0.667																																						dbGAP											0													57.0	57.0	57.0					19																	14165650		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0				CCDS46001.1	19p13.12	2010-04-15			ENSG00000187867	ENSG00000187867			33274	protein-coding gene	gene with protein product							Standard	NM_001145028		Approved		uc010xnk.1	A6NDB9		ENST00000340790.4:c.789C>G	19.37:g.14165650G>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.L263	ENST00000340790.4	37	c.789	CCDS46001.1	19																																																																																			PALM3	-	NULL	ENSG00000187867		0.667	PALM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PALM3	HGNC	protein_coding	OTTHUMT00000458540.1	33	0.00	0	G	NM_001145028		14165650	14165650	-1	no_errors	ENST00000340790	ensembl	human	known	69_37n	silent	47	26.56	17	SNP	0.414	C
PAM	5066	genome.wustl.edu	37	5	102363906	102363906	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:102363906G>A	ENST00000438793.3	+	24	3177	c.2707G>A	c.(2707-2709)Gag>Aag	p.E903K	PAM_ENST00000304400.7_Missense_Mutation_p.E904K|PAM_ENST00000455264.2_Missense_Mutation_p.E835K|PAM_ENST00000348126.2_Missense_Mutation_p.E796K|PAM_ENST00000379787.4_Intron|PAM_ENST00000274392.9_Missense_Mutation_p.E805K|PAM_ENST00000346918.2_Intron	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	903					central nervous system development (GO:0007417)|heart development (GO:0007507)|lactation (GO:0007595)|limb development (GO:0060173)|long-chain fatty acid metabolic process (GO:0001676)|maternal process involved in female pregnancy (GO:0060135)|odontogenesis (GO:0042476)|ovulation cycle process (GO:0022602)|peptide amidation (GO:0001519)|protein amidation (GO:0018032)|protein homooligomerization (GO:0051260)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of protein secretion (GO:0050708)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to pH (GO:0009268)|toxin metabolic process (GO:0009404)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)	calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|L-ascorbic acid binding (GO:0031418)|peptidylamidoglycolate lyase activity (GO:0004598)|peptidylglycine monooxygenase activity (GO:0004504)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	ACACAAACTCGAGACGAGTTC	0.393																																						dbGAP											0													165.0	156.0	159.0					5																	102363906		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB095007	CCDS4092.1, CCDS4093.1, CCDS4094.1, CCDS43348.1, CCDS54885.1	5q	2008-02-05			ENSG00000145730	ENSG00000145730	1.14.17.3		8596	protein-coding gene	gene with protein product	"""peptidyl-alpha-hydroxyglycine alpha-amidating lyase"", ""peptidylglycine alpha-hydroxylating monooxygenase"""	170270				2357221	Standard	NM_000919		Approved	PAL, PHM	uc003knt.3	P19021	OTTHUMG00000128729	ENST00000438793.3:c.2707G>A	5.37:g.102363906G>A	ENSP00000396493:p.Glu903Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMR0|A8K293|O43211|O95080|Q16252|Q16253|Q54A45|Q86U53|Q8WVC7|Q9UCG0	Missense_Mutation	SNP	pfam_NHL_repeat,pfam_Cu2_ascorb_mOase_N,superfamily_PHM/PNGase_F_dom,pfscan_NHL_repeat_subgr,prints_Pep_amidat_mOase	p.E904K	ENST00000438793.3	37	c.2710	CCDS54885.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.4|25.4	4.629352|4.629352	0.87560|0.87560	.|.	.|.	ENSG00000145730|ENSG00000145730	ENST00000438793;ENST00000348126;ENST00000304400;ENST00000274392;ENST00000455264|ENST00000379799	T;T;T;T;T|.	0.63580|.	0.85;0.69;0.85;-0.05;0.38|.	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	0.262122|.	0.44285|.	D|.	0.000471|.	T|T	0.59595|0.59595	0.2205|0.2205	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.76494|.	0.966;0.967;0.999;0.966;0.981|.	B;B;P;B;B|.	0.62184|.	0.308;0.163;0.899;0.308;0.379|.	T|T	0.51779|0.51779	-0.8662|-0.8662	10|5	0.34782|.	T|.	0.22|.	.|.	20.0415|20.0415	0.97592|0.97592	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	805;903;835;904;796|.	F8WE90;P19021;P19021-3;P19021-5;P19021-2|.	.;AMD_HUMAN;.;.;.|.	K|Q	903;796;904;805;835|608	ENSP00000396493:E903K;ENSP00000314638:E796K;ENSP00000306100:E904K;ENSP00000274392:E805K;ENSP00000403461:E835K|.	ENSP00000274392:E805K|.	E|R	+|+	1|2	0|0	PAM|PAM	102391805|102391805	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.516000|0.516000	0.34256|0.34256	5.047000|5.047000	0.64232|0.64232	2.745000|2.745000	0.94114|0.94114	0.563000|0.563000	0.77884|0.77884	GAG|CGA	PAM	-	NULL	ENSG00000145730		0.393	PAM-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	PAM	HGNC	protein_coding	OTTHUMT00000250640.2	124	0.00	0	G	NM_000919		102363906	102363906	+1	no_errors	ENST00000304400	ensembl	human	known	69_37n	missense	94	22.95	28	SNP	0.994	A
PANX2	56666	genome.wustl.edu	37	22	50616035	50616035	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:50616035G>A	ENST00000395842.2	+	2	894	c.894G>A	c.(892-894)ctG>ctA	p.L298L	PANX2_ENST00000159647.5_Silent_p.L298L	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	298					ion transport (GO:0006811)|protein hexamerization (GO:0034214)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		TCGTGCTGCTGTGCGTCATGA	0.617																																						dbGAP											0													133.0	95.0	108.0					22																	50616035		2201	4300	6501	-	-	-	SO:0001819	synonymous_variant	0				CCDS14085.2, CCDS54544.1	22q13.33	2011-12-05			ENSG00000073150	ENSG00000073150		"""Ion channels / Pannexins"""	8600	protein-coding gene	gene with protein product		608421				14702039, 14597722	Standard	NM_052839		Approved	hPANX2, PX2	uc003bjn.4	Q96RD6	OTTHUMG00000044649	ENST00000395842.2:c.894G>A	22.37:g.50616035G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z684|Q96RD5|Q9UGX8	Silent	SNP	pfam_Innexin,pfscan_Innexin	p.L298	ENST00000395842.2	37	c.894	CCDS14085.2	22																																																																																			PANX2	-	pfscan_Innexin	ENSG00000073150		0.617	PANX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PANX2	HGNC	protein_coding	OTTHUMT00000075010.3	33	0.00	0	G	NM_052839		50616035	50616035	+1	no_errors	ENST00000395842	ensembl	human	known	69_37n	silent	44	26.67	16	SNP	0.936	A
PAPPA	5069	genome.wustl.edu	37	9	119033603	119033603	+	Splice_Site	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:119033603G>T	ENST00000328252.3	+	9	3230		c.e9-1		PAPPA_ENST00000534838.1_Splice_Site	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1						cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CTGCTCTGCAGAGACCAAGGT	0.458																																						dbGAP											0													187.0	169.0	175.0					9																	119033603		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.2862-1G>T	9.37:g.119033603G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AMF9|Q08371|Q68G52|Q9UDK7	Splice_Site	SNP	-	e9-1	ENST00000328252.3	37	c.2862-1	CCDS6813.1	9	.	.	.	.	.	.	.	.	.	.	G	17.32	3.360239	0.61403	.	.	ENSG00000182752	ENST00000328252;ENST00000443904	.	.	.	4.91	4.91	0.64330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4107	0.87485	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PAPPA	118073424	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	5.715000	0.68430	2.713000	0.92767	0.655000	0.94253	.	PAPPA	-	-	ENSG00000182752		0.458	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA	HGNC	protein_coding	OTTHUMT00000055546.1	111	0.00	0	G	NM_002581	Intron	119033603	119033603	+1	no_errors	ENST00000328252	ensembl	human	known	69_37n	splice_site	106	23.19	32	SNP	1.000	T
PAPPA2	60676	genome.wustl.edu	37	1	176759065	176759065	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:176759065C>A	ENST00000367662.3	+	18	6000	c.4836C>A	c.(4834-4836)ttC>ttA	p.F1612L		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1612	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				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)			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						CCAATGGCTTCAGCCTGGACA	0.483																																						dbGAP											0													140.0	138.0	139.0					1																	176759065		1989	4168	6157	-	-	-	SO:0001583	missense	0			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.4836C>A	1.37:g.176759065C>A	ENSP00000356634:p.Phe1612Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl,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.F1612L	ENST00000367662.3	37	c.4836	CCDS41438.1	1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.501420	0.44455	.	.	ENSG00000116183	ENST00000367662	T	0.01787	4.64	5.51	1.87	0.25490	Complement control module (1);Sushi/SCR/CCP (2);	0.071138	0.64402	D	0.000015	T	0.02571	0.0078	M	0.66506	2.035	0.80722	D	1	B	0.31599	0.33	B	0.31686	0.134	T	0.51204	-0.8735	10	0.44086	T	0.13	-20.3399	7.4305	0.27124	0.0:0.5446:0.0:0.4554	.	1612	Q9BXP8	PAPP2_HUMAN	L	1612	ENSP00000356634:F1612L	ENSP00000356634:F1612L	F	+	3	2	PAPPA2	175025688	0.996000	0.38824	0.791000	0.31998	0.987000	0.75469	0.166000	0.16583	0.547000	0.28938	0.557000	0.71058	TTC	PAPPA2	-	superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000116183		0.483	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA2	HGNC	protein_coding	OTTHUMT00000084763.1	87	0.00	0	C			176759065	176759065	+1	no_errors	ENST00000367662	ensembl	human	known	69_37n	missense	110	33.33	55	SNP	0.908	A
PAPPA2	60676	genome.wustl.edu	37	1	176759108	176759108	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:176759108G>A	ENST00000367662.3	+	18	6043	c.4879G>A	c.(4879-4881)Gaa>Aaa	p.E1627K		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1627	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				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)			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						CCAGGAACGTGAAAAGGTAAG	0.423																																						dbGAP											0													158.0	150.0	153.0					1																	176759108		1936	4140	6076	-	-	-	SO:0001583	missense	0			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.4879G>A	1.37:g.176759108G>A	ENSP00000356634:p.Glu1627Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl,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.E1627K	ENST00000367662.3	37	c.4879	CCDS41438.1	1	.	.	.	.	.	.	.	.	.	.	G	7.710	0.694903	0.15039	.	.	ENSG00000116183	ENST00000367662	T	0.01685	4.69	5.64	1.37	0.22104	Complement control module (1);Sushi/SCR/CCP (2);	0.746980	0.12979	N	0.423441	T	0.00906	0.0030	N	0.05383	-0.06	0.44685	D	0.997672	B	0.06786	0.001	B	0.06405	0.002	T	0.43572	-0.9383	10	0.07644	T	0.81	-8.4692	4.1849	0.10393	0.3674:0.1819:0.4508:0.0	.	1627	Q9BXP8	PAPP2_HUMAN	K	1627	ENSP00000356634:E1627K	ENSP00000356634:E1627K	E	+	1	0	PAPPA2	175025731	0.051000	0.20477	0.931000	0.37212	0.780000	0.44128	0.218000	0.17622	0.707000	0.31934	0.650000	0.86243	GAA	PAPPA2	-	superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000116183		0.423	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA2	HGNC	protein_coding	OTTHUMT00000084763.1	82	0.00	0	G			176759108	176759108	+1	no_errors	ENST00000367662	ensembl	human	known	69_37n	missense	121	13.57	19	SNP	0.539	A
PARD3	56288	genome.wustl.edu	37	10	34649032	34649032	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:34649032G>C	ENST00000374789.3	-	13	2188	c.1863C>G	c.(1861-1863)gtC>gtG	p.V621V	PARD3_ENST00000350537.4_Silent_p.V608V|PARD3_ENST00000374790.3_Silent_p.V564V|PARD3_ENST00000544292.1_Silent_p.V338V|PARD3_ENST00000340077.5_Silent_p.V621V|PARD3_ENST00000545260.1_Silent_p.V564V|PARD3_ENST00000374768.1_Silent_p.V59V|PARD3_ENST00000545693.1_Silent_p.V608V|PARD3_ENST00000374788.3_Silent_p.V621V|PARD3_ENST00000346874.4_Silent_p.V621V|PARD3_ENST00000374794.3_Silent_p.V564V|PARD3_ENST00000374773.1_Silent_p.V621V|PARD3_ENST00000374776.1_Silent_p.V608V	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	621	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TAATGGACTTGACAAAGATTC	0.393																																						dbGAP											0													133.0	126.0	128.0					10																	34649032		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.1863C>G	10.37:g.34649032G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Silent	SNP	pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.V621	ENST00000374789.3	37	c.1863	CCDS7178.1	10																																																																																			PARD3	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000148498		0.393	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PARD3	HGNC	protein_coding	OTTHUMT00000047527.1	91	0.00	0	G	NM_019619		34649032	34649032	-1	no_errors	ENST00000374789	ensembl	human	known	69_37n	silent	65	24.42	21	SNP	1.000	C
PARD3	56288	genome.wustl.edu	37	10	34759098	34759098	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:34759098G>C	ENST00000374789.3	-	4	822	c.497C>G	c.(496-498)tCa>tGa	p.S166*	PARD3_ENST00000350537.4_Nonsense_Mutation_p.S166*|PARD3_ENST00000374790.3_Nonsense_Mutation_p.S166*|PARD3_ENST00000340077.5_Nonsense_Mutation_p.S166*|PARD3_ENST00000545260.1_Nonsense_Mutation_p.S166*|PARD3_ENST00000545693.1_Nonsense_Mutation_p.S166*|PARD3_ENST00000374788.3_Nonsense_Mutation_p.S166*|PARD3_ENST00000346874.4_Nonsense_Mutation_p.S166*|PARD3_ENST00000374794.3_Nonsense_Mutation_p.S166*|PARD3_ENST00000374773.1_Nonsense_Mutation_p.S166*|PARD3_ENST00000374776.1_Nonsense_Mutation_p.S166*	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	166					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				ATTTTTCCTTGAAGGCTCTTC	0.483																																						dbGAP											0													124.0	122.0	123.0					10																	34759098		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.497C>G	10.37:g.34759098G>C	ENSP00000363921:p.Ser166*	Somatic		WXS	Illumina GAIIx	Phase_IV	F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Nonsense_Mutation	SNP	pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S166*	ENST00000374789.3	37	c.497	CCDS7178.1	10	.	.	.	.	.	.	.	.	.	.	G	40	8.532171	0.98852	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790;ENST00000374776;ENST00000340077;ENST00000374773	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	20.1617	0.98138	0.0:0.0:1.0:0.0	.	.	.	.	X	166	.	ENSP00000341844:S166X	S	-	2	0	PARD3	34799104	1.000000	0.71417	0.955000	0.39395	0.940000	0.58332	8.839000	0.92120	2.854000	0.98071	0.655000	0.94253	TCA	PARD3	-	NULL	ENSG00000148498		0.483	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PARD3	HGNC	protein_coding	OTTHUMT00000047527.1	82	0.00	0	G	NM_019619		34759098	34759098	-1	no_errors	ENST00000374789	ensembl	human	known	69_37n	nonsense	50	24.24	16	SNP	0.999	C
PARD6A	50855	genome.wustl.edu	37	16	67696312	67696312	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:67696312C>G	ENST00000219255.3	+	3	883	c.803C>G	c.(802-804)tCt>tGt	p.S268C	PARD6A_ENST00000458121.2_Missense_Mutation_p.S267C|ENKD1_ENST00000602409.1_5'Flank|PARD6A_ENST00000602551.1_Missense_Mutation_p.S238C|ACD_ENST00000219251.8_5'Flank|ACD_ENST00000393919.4_5'Flank			Q9NPB6	PAR6A_HUMAN	par-6 family cell polarity regulator alpha	268					cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction maintenance (GO:0045217)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	GTP-dependent protein binding (GO:0030742)|Rho GTPase binding (GO:0017048)|transcription factor binding (GO:0008134)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		GGTCCTCCCTCTGCAGGGCCT	0.592																																						dbGAP											0													86.0	70.0	75.0					16																	67696312		2198	4300	6498	-	-	-	SO:0001583	missense	0				CCDS10843.1, CCDS45514.1	16q22.1-q22.3	2013-08-28	2013-08-28		ENSG00000102981	ENSG00000102981			15943	protein-coding gene	gene with protein product		607484	"""par-6 (partitioning defective 6, C.elegans) homolog alpha"", ""par-6 partitioning defective 6 homolog alpha (C. elegans)"""			9482110, 11260256	Standard	XM_005255977		Approved	PAR-6, PAR-6A, TAX40, PAR6alpha, TIP-40	uc002ett.3	Q9NPB6	OTTHUMG00000137534	ENST00000219255.3:c.803C>G	16.37:g.67696312C>G	ENSP00000219255:p.Ser268Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	O14911|Q9NPJ7	Missense_Mutation	SNP	pfam_OPR_PB1,pfam_PDZ,superfamily_PDZ,smart_OPR_PB1,smart_PDZ,pfscan_PDZ	p.S268C	ENST00000219255.3	37	c.803	CCDS10843.1	16	.	.	.	.	.	.	.	.	.	.	C	13.27	2.186377	0.38609	.	.	ENSG00000102981	ENST00000458121;ENST00000219255	T;T	0.39056	1.1;1.1	4.86	4.86	0.63082	.	0.473664	0.20385	N	0.093380	T	0.43853	0.1266	N	0.22421	0.69	0.09310	N	0.999998	D;D	0.76494	0.998;0.999	P;D	0.64595	0.847;0.927	T	0.27806	-1.0063	10	0.62326	D	0.03	-3.5171	6.7084	0.23264	0.0:0.7707:0.0:0.2293	.	268;267	Q9NPB6;Q9NPB6-2	PAR6A_HUMAN;.	C	267;268	ENSP00000392388:S267C;ENSP00000219255:S268C	ENSP00000219255:S268C	S	+	2	0	PARD6A	66253813	0.534000	0.26362	0.038000	0.18304	0.938000	0.57974	2.466000	0.45084	2.218000	0.71995	0.563000	0.77884	TCT	PARD6A	-	NULL	ENSG00000102981		0.592	PARD6A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PARD6A	HGNC	protein_coding	OTTHUMT00000268863.2	49	0.00	0	C	NM_016948		67696312	67696312	+1	no_errors	ENST00000219255	ensembl	human	known	69_37n	missense	37	41.27	26	SNP	0.036	G
PARP14	54625	genome.wustl.edu	37	3	122419874	122419874	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:122419874G>A	ENST00000474629.2	+	6	2739	c.2473G>A	c.(2473-2475)Gag>Aag	p.E825K		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	825	Macro 1. {ECO:0000255|PROSITE- ProRule:PRU00490}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		TGCATCTAATGAGGACCTTAA	0.577																																						dbGAP											0													84.0	85.0	85.0					3																	122419874		2134	4239	6373	-	-	-	SO:0001583	missense	0			AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.2473G>A	3.37:g.122419874G>A	ENSP00000418194:p.Glu825Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	pfam_A1pp,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_A1pp,pfscan_A1pp,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.E825K	ENST00000474629.2	37	c.2473	CCDS46894.1	3	.	.	.	.	.	.	.	.	.	.	G	21.3	4.124327	0.77436	.	.	ENSG00000173193	ENST00000474629;ENST00000398162	T	0.24538	1.85	6.06	5.19	0.71726	Appr-1-p processing (3);	0.154271	0.44285	N	0.000462	T	0.40322	0.1112	L	0.54908	1.71	0.20307	N	0.999912	P;D	0.56746	0.922;0.977	P;P	0.56278	0.49;0.795	T	0.29212	-1.0019	10	0.66056	D	0.02	.	13.8482	0.63481	0.0732:0.0:0.9268:0.0	.	825;825	Q460N5-4;Q460N5	.;PAR14_HUMAN	K	825;744	ENSP00000418194:E825K	ENSP00000381228:E744K	E	+	1	0	PARP14	123902564	1.000000	0.71417	0.011000	0.14972	0.033000	0.12548	4.717000	0.61923	1.579000	0.49836	0.655000	0.94253	GAG	PARP14	-	pfam_A1pp,smart_A1pp,pfscan_A1pp	ENSG00000173193		0.577	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP14	HGNC	protein_coding	OTTHUMT00000356173.2	50	0.00	0	G	NM_017554		122419874	122419874	+1	no_errors	ENST00000474629	ensembl	human	known	69_37n	missense	50	15.25	9	SNP	0.081	A
PARP16	54956	genome.wustl.edu	37	15	65559001	65559001	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:65559001C>T	ENST00000261888.6	-	3	863	c.418G>A	c.(418-420)Gag>Aag	p.E140K	PARP16_ENST00000558873.1_5'UTR|PARP16_ENST00000444347.2_Intron	NM_017851.4	NP_060321.3	Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	140	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cell death (GO:0060548)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum tubular network (GO:0071782)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)	kinase binding (GO:0019900)|NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|protein serine/threonine kinase activator activity (GO:0043539)			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						CCTTTGGTCTCATAAAATTTG	0.468																																					NSCLC(50;885 1163 13509 21242 41978)	dbGAP											0													140.0	128.0	132.0					15																	65559001		2201	4299	6500	-	-	-	SO:0001583	missense	0			AK000516	CCDS10204.1	15q22.2	2010-02-16	2004-08-25	2004-08-25	ENSG00000138617	ENSG00000138617		"""Poly (ADP-ribose) polymerases"""	26040	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 30"""	C15orf30		15273990	Standard	NM_017851		Approved	FLJ20509, FLJ25281, pART15	uc002aoq.3	Q8N5Y8	OTTHUMG00000133138	ENST00000261888.6:c.418G>A	15.37:g.65559001C>T	ENSP00000261888:p.Glu140Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6PK64|Q9NX03	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.E140K	ENST00000261888.6	37	c.418	CCDS10204.1	15	.	.	.	.	.	.	.	.	.	.	C	16.74	3.207180	0.58343	.	.	ENSG00000138617	ENST00000261888	T	0.14022	2.54	5.58	4.61	0.57282	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.221430	0.48767	D	0.000175	T	0.13970	0.0338	L	0.41961	1.31	0.80722	D	1	B;B	0.21381	0.045;0.055	B;B	0.26693	0.043;0.072	T	0.06481	-1.0824	10	0.22109	T	0.4	-36.9773	15.0398	0.71781	0.0:0.8576:0.1424:0.0	.	140;140	Q8N5Y8-3;Q8N5Y8	.;PAR16_HUMAN	K	140	ENSP00000261888:E140K	ENSP00000261888:E140K	E	-	1	0	PARP16	63346054	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.565000	0.53798	2.630000	0.89119	0.462000	0.41574	GAG	PARP16	-	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom	ENSG00000138617		0.468	PARP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP16	HGNC	protein_coding	OTTHUMT00000256827.2	188	0.00	0	C	NM_017851		65559001	65559001	-1	no_errors	ENST00000261888	ensembl	human	known	69_37n	missense	138	20.23	35	SNP	1.000	T
PARP3	10039	genome.wustl.edu	37	3	51979013	51979013	+	Splice_Site	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:51979013G>A	ENST00000417220.2	+	7	1122		c.e7-1		PARP3_ENST00000431474.1_Splice_Site|PARP3_ENST00000398755.3_Splice_Site			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3						DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|positive regulation of DNA ligation (GO:0051106)|protein ADP-ribosylation (GO:0006471)|protein localization to site of double-strand break (GO:1990166)|regulation of mitotic spindle organization (GO:0060236)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	catalytic activity (GO:0003824)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TGTCCCCCTAGATGTGAAGAA	0.652																																						dbGAP											0													36.0	41.0	39.0					3																	51979013		1965	4154	6119	-	-	-	SO:0001630	splice_region_variant	0			AF083068	CCDS43097.1, CCDS46839.1	3p22.2-p21.1	2010-07-14	2004-08-20	2004-08-26	ENSG00000041880	ENSG00000041880	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	273	protein-coding gene	gene with protein product	"""poly(ADP-ribose) synthetase-3"", ""NAD+ ADP-ribosyltransferase 3"", ""poly(ADP-ribose) polymerase 3"""	607726	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 3"""	ADPRTL3		10329013	Standard	NM_001003931		Approved	ADPRT3, IRT1, hPARP-3, pADPRT-3	uc003dbz.3	Q9Y6F1	OTTHUMG00000156931	ENST00000417220.2:c.635-1G>A	3.37:g.51979013G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NER9|Q96CG2|Q9UG81	Splice_Site	SNP	-	e6-1	ENST00000417220.2	37	c.656-1	CCDS43097.1	3	.	.	.	.	.	.	.	.	.	.	G	13.32	2.202985	0.38905	.	.	ENSG00000041880	ENST00000417220;ENST00000431474;ENST00000398755;ENST00000498510	.	.	.	5.26	4.39	0.52855	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3921	0.60830	0.0759:0.0:0.9241:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PARP3	51954053	1.000000	0.71417	0.984000	0.44739	0.313000	0.28021	7.509000	0.81698	1.454000	0.47793	0.655000	0.94253	.	PARP3	-	-	ENSG00000041880		0.652	PARP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PARP3	HGNC	protein_coding	OTTHUMT00000348612.2	38	0.00	0	G	NM_005485.4	Intron	51979013	51979013	+1	no_errors	ENST00000398755	ensembl	human	known	69_37n	splice_site	30	28.57	12	SNP	1.000	A
PARP4	143	genome.wustl.edu	37	13	25000642	25000642	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr13:25000642G>A	ENST00000381989.3	-	33	5046	c.4941C>T	c.(4939-4941)ttC>ttT	p.F1647F		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1647	Interaction with the major vault protein.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TCAGTGATTTGAACACTATTC	0.343																																						dbGAP											0													83.0	82.0	83.0					13																	25000642		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.4941C>T	13.37:g.25000642G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O75903|Q14682|Q5QNZ9|Q9H1M6	Silent	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_VIT,pfam_VWF_A,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_VIT,smart_VWF_A,pfscan_BRCT_dom,pfscan_VWF_A,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom	p.F1647	ENST00000381989.3	37	c.4941	CCDS9307.1	13																																																																																			PARP4	-	NULL	ENSG00000102699		0.343	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP4	HGNC	protein_coding	OTTHUMT00000044189.1	128	0.00	0	G	NM_006437		25000642	25000642	-1	no_errors	ENST00000381989	ensembl	human	known	69_37n	silent	57	43.56	44	SNP	0.176	A
PASK	23178	genome.wustl.edu	37	2	242065992	242065992	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:242065992C>G	ENST00000405260.1	-	10	3036	c.2338G>C	c.(2338-2340)Gat>Cat	p.D780H	PASK_ENST00000539818.1_Missense_Mutation_p.D564H|PASK_ENST00000234040.4_Missense_Mutation_p.D780H|PASK_ENST00000358649.4_Missense_Mutation_p.D780H|PASK_ENST00000544142.1_Missense_Mutation_p.D594H|PASK_ENST00000403638.3_Missense_Mutation_p.D780H	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	780					negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CTGCCTACATCTGGATCGGAG	0.542																																						dbGAP											0													106.0	96.0	100.0					2																	242065992		2203	4300	6503	-	-	-	SO:0001583	missense	0			U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.2338G>C	2.37:g.242065992C>G	ENSP00000384016:p.Asp780His	Somatic		WXS	Illumina GAIIx	Phase_IV	G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAS_fold,superfamily_Kinase-like_dom,smart_PAS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAS,pfscan_Prot_kinase_cat_dom,tigrfam_PAS	p.D780H	ENST00000405260.1	37	c.2338	CCDS2545.1	2	.	.	.	.	.	.	.	.	.	.	C	15.85	2.954221	0.53293	.	.	ENSG00000115687	ENST00000234040;ENST00000544142;ENST00000405260;ENST00000358649;ENST00000539818;ENST00000403638	T;T;T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.35;-1.36;-0.64	4.31	2.02	0.26589	.	0.721547	0.12352	N	0.476497	T	0.80864	0.4705	L	0.34521	1.04	0.09310	N	1	D;D;D;D;D	0.89917	0.997;0.985;0.985;1.0;0.988	P;P;P;D;P	0.70016	0.841;0.875;0.875;0.967;0.808	T	0.66806	-0.5830	10	0.72032	D	0.01	.	4.7047	0.12844	0.0:0.6646:0.0:0.3354	.	745;594;780;780;780	B7Z7R6;F5GYW7;Q96RG2-2;G5E9F1;Q96RG2	.;.;.;.;PASK_HUMAN	H	780;594;780;780;564;780	ENSP00000234040:D780H;ENSP00000441374:D594H;ENSP00000384016:D780H;ENSP00000351475:D780H;ENSP00000443083:D564H;ENSP00000384438:D780H	ENSP00000234040:D780H	D	-	1	0	PASK	241714665	0.000000	0.05858	0.002000	0.10522	0.019000	0.09904	0.350000	0.20079	0.948000	0.37687	0.491000	0.48974	GAT	PASK	-	NULL	ENSG00000115687		0.542	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	PASK	HGNC	protein_coding	OTTHUMT00000323753.1	42	0.00	0	C	NM_015148		242065992	242065992	-1	no_errors	ENST00000358649	ensembl	human	known	69_37n	missense	59	16.90	12	SNP	0.001	G
PBRM1	55193	genome.wustl.edu	37	3	52621381	52621381	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:52621381G>A	ENST00000296302.7	-	19	3112	c.3111C>T	c.(3109-3111)gtC>gtT	p.V1037V	PBRM1_ENST00000394830.3_Silent_p.V1012V|PBRM1_ENST00000409767.1_Silent_p.V1052V|PBRM1_ENST00000356770.4_Silent_p.V1005V|PBRM1_ENST00000410007.1_Silent_p.V1012V|PBRM1_ENST00000409114.3_Silent_p.V1052V|PBRM1_ENST00000337303.4_Silent_p.V1037V|PBRM1_ENST00000409057.1_Silent_p.V1037V			Q86U86	PB1_HUMAN	polybromo 1	1037	BAH 1. {ECO:0000255|PROSITE- ProRule:PRU00370}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TGACAAACATGACCACACACT	0.318			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	dbGAP		Rec	yes		3	3p21	55193	polybromo 1		E	0													103.0	108.0	106.0					3																	52621381		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.3111C>T	3.37:g.52621381G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Silent	SNP	pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_superfamily,superfamily_Bromodomain,superfamily_HMG_superfamily,smart_Bromodomain,smart_BAH_dom,smart_HMG_superfamily,pfscan_BAH_dom,pfscan_HMG_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.V1037	ENST00000296302.7	37	c.3111		3																																																																																			PBRM1	-	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	ENSG00000163939		0.318	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	PBRM1	HGNC	protein_coding	OTTHUMT00000327232.1	163	0.00	0	G	NM_018165		52621381	52621381	-1	no_errors	ENST00000296302	ensembl	human	known	69_37n	silent	161	11.54	21	SNP	1.000	A
PBRM1	55193	genome.wustl.edu	37	3	52621452	52621452	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:52621452C>G	ENST00000296302.7	-	19	3041	c.3040G>C	c.(3040-3042)Gaa>Caa	p.E1014Q	PBRM1_ENST00000394830.3_Splice_Site|PBRM1_ENST00000409767.1_Missense_Mutation_p.E1029Q|PBRM1_ENST00000356770.4_Missense_Mutation_p.E982Q|PBRM1_ENST00000410007.1_Splice_Site|PBRM1_ENST00000409114.3_Missense_Mutation_p.E1029Q|PBRM1_ENST00000337303.4_Missense_Mutation_p.E1014Q|PBRM1_ENST00000409057.1_Missense_Mutation_p.E1014Q			Q86U86	PB1_HUMAN	polybromo 1	1014	BAH 1. {ECO:0000255|PROSITE- ProRule:PRU00370}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ACTTCTTTTTCTAGAAATTTT	0.383			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	dbGAP		Rec	yes		3	3p21	55193	polybromo 1		E	0													74.0	77.0	76.0					3																	52621452		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.3040G>C	3.37:g.52621452C>G	ENSP00000296302:p.Glu1014Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Splice_Site	SNP	-	e19-1	ENST00000296302.7	37	c.2966-1		3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.6|27.6	4.846571|4.846571	0.91277|0.91277	.|.	.|.	ENSG00000163939|ENSG00000163939	ENST00000394830;ENST00000410007|ENST00000356770;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.|D;D;D;D;D;D;D;D	.|0.86432	.|-2.12;-2.12;-2.12;-2.12;-2.12;-2.12;-2.12;-2.12	5.92|5.92	5.92|5.92	0.95590|0.95590	.|Bromo adjacent homology (BAH) domain (3);	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.91023	.|0.7176	L|L	0.41236|0.41236	1.265|1.265	0.80722|0.80722	D|D	1|1	.|B;B;D;P;D;B;B	.|0.58970	.|0.104;0.227;0.981;0.902;0.984;0.227;0.227	.|B;B;D;P;P;B;B	.|0.69479	.|0.12;0.191;0.964;0.466;0.833;0.191;0.191	.|D	.|0.89927	.|0.4063	.|10	.|0.45353	.|T	.|0.12	.|.	20.3081|20.3081	0.98638|0.98638	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1013;1014;1029;1029;1014;982;1014	.|E7EVG2;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.|.;.;.;.;PB1_HUMAN;.;.	.|Q	-1|982;1014;1014;1014;1029;1029;1013;972	.|ENSP00000349213:E982Q;ENSP00000296302:E1014Q;ENSP00000338302:E1014Q;ENSP00000386593:E1014Q;ENSP00000386643:E1029Q;ENSP00000386601:E1029Q;ENSP00000387775:E1013Q;ENSP00000397662:E972Q	.|ENSP00000296302:E1014Q	.|E	-|-	.|1	.|0	PBRM1|PBRM1	52596492|52596492	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.776000|7.776000	0.85560|0.85560	2.795000|2.795000	0.96236|0.96236	0.655000|0.655000	0.94253|0.94253	.|GAA	PBRM1	-	-	ENSG00000163939		0.383	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	PBRM1	HGNC	protein_coding	OTTHUMT00000327232.1	124	0.00	0	C	NM_018165		52621452	52621452	-1	no_errors	ENST00000394830	ensembl	human	known	69_37n	splice_site	114	16.18	22	SNP	1.000	G
PCBD1	5092	genome.wustl.edu	37	10	72645666	72645666	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:72645666C>T	ENST00000299299.3	-	2	274	c.24G>A	c.(22-24)ctG>ctA	p.L8L	PCBD1_ENST00000493228.1_5'UTR	NM_000281.2	NP_000272.1	P61457	PHS_HUMAN	pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha	8					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein homotetramerization (GO:0051289)|regulation of protein homodimerization activity (GO:0043496)|small molecule metabolic process (GO:0044281)|tetrahydrobiopterin biosynthetic process (GO:0006729)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	4-alpha-hydroxytetrahydrobiopterin dehydratase activity (GO:0008124)|identical protein binding (GO:0042802)|phenylalanine 4-monooxygenase activity (GO:0004505)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(2)|large_intestine(1)	4						CCTCAGCGCTCAGCCTGTGTG	0.527																																						dbGAP											0													50.0	45.0	47.0					10																	72645666		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC006324	CCDS31217.1	10q22	2014-04-01	2007-11-06	2005-02-11	ENSG00000166228	ENSG00000166228	4.2.1.96		8646	protein-coding gene	gene with protein product	"""Pterin-4a-carbinolamine dehydratase (dimerization cofactor of hepatic nuclear factor 1-alpha)"", ""pterin-4-alpha carbinolamine dehydratase"", ""dimerizing cofactor for HNF1"""	126090	"""6-pyruvoyl-tetrahydropterin synthase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1)"", ""pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1)"""	DCOH, PCBD		8486378	Standard	XM_005269877		Approved	PCD	uc001jrn.1	P61457	OTTHUMG00000018417	ENST00000299299.3:c.24G>A	10.37:g.72645666C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	P70519|P80095|Q9D930	Silent	SNP	pfam_Trans/pterin_deHydtase,superfamily_Trans/pterin_deHydtase	p.L8	ENST00000299299.3	37	c.24	CCDS31217.1	10																																																																																			PCBD1	-	pfam_Trans/pterin_deHydtase,superfamily_Trans/pterin_deHydtase	ENSG00000166228		0.527	PCBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCBD1	HGNC	protein_coding	OTTHUMT00000048527.1	58	0.00	0	C	NM_000281		72645666	72645666	-1	no_errors	ENST00000299299	ensembl	human	known	69_37n	silent	45	19.64	11	SNP	0.170	T
PCBP2	5094	genome.wustl.edu	37	12	53854845	53854845	+	Nonsense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:53854845C>G	ENST00000439930.3	+	6	444	c.422C>G	c.(421-423)tCa>tGa	p.S141*	PCBP2_ENST00000359462.5_Nonsense_Mutation_p.S141*|PCBP2_ENST00000541275.1_Nonsense_Mutation_p.S141*|PCBP2_ENST00000552819.1_Nonsense_Mutation_p.S141*|PCBP2_ENST00000437231.1_Nonsense_Mutation_p.S141*|PCBP2_ENST00000359282.5_Nonsense_Mutation_p.S141*|PCBP2_ENST00000549863.1_Nonsense_Mutation_p.S141*|PCBP2_ENST00000548933.1_Nonsense_Mutation_p.S141*|PCBP2_ENST00000546463.1_Nonsense_Mutation_p.S141*|PCBP2_ENST00000552296.2_Nonsense_Mutation_p.S141*|PCBP2_ENST00000455667.3_Nonsense_Mutation_p.S141*|PCBP2_ENST00000447282.1_Nonsense_Mutation_p.S141*|PCBP2_ENST00000603815.1_Nonsense_Mutation_p.S141*|RP11-793H13.8_ENST00000547717.1_RNA			Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	141	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of defense response to virus (GO:0050687)|negative regulation of type I interferon production (GO:0032480)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						CTACCCAACTCAACTGAGCGG	0.473																																						dbGAP											0													140.0	119.0	126.0					12																	53854845		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC035420	CCDS8859.1, CCDS44900.1, CCDS44901.1, CCDS44902.1, CCDS44903.1, CCDS44904.1, CCDS55830.1	12q13.13	2013-10-30	2001-11-28		ENSG00000197111	ENSG00000197111			8648	protein-coding gene	gene with protein product	"""heterogenous nuclear ribonucleoprotein E2"""	601210	"""poly(rC)-binding protein 2"""			8833161	Standard	NM_001098620		Approved	HNRPE2, hnRNP-E2, HNRNPE2	uc001sdc.4	Q15366	OTTHUMG00000169439	ENST00000439930.3:c.422C>G	12.37:g.53854845C>G	ENSP00000408949:p.Ser141*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7X6|F8VYL7|G3V0E8|I6L8F9|Q32Q82|Q59HD4|Q68Y55|Q6IPF4|Q6PKG5	Nonsense_Mutation	SNP	pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1	p.S141*	ENST00000439930.3	37	c.422	CCDS44901.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.7|25.7	4.660285|4.660285	0.88154|0.88154	.|.	.|.	ENSG00000197111|ENSG00000197111	ENST00000546652|ENST00000541275;ENST00000359282;ENST00000447282;ENST00000437231;ENST00000439930;ENST00000549863;ENST00000359462;ENST00000550927;ENST00000546463;ENST00000551104;ENST00000550520;ENST00000552296;ENST00000552083;ENST00000552819;ENST00000455667;ENST00000548933;ENST00000379777;ENST00000553064	.|.	.|.	.|.	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.76054|.	0.3934|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.75903|.	-0.3153|.	4|.	0.33940|0.51188	T|T	0.23|0.08	.|.	18.1345|18.1345	0.89614|0.89614	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	E|X	154|141;141;141;141;141;141;141;83;141;141;133;141;102;141;141;141;103;5	.|.	ENSP00000447068:Q154E|ENSP00000352228:S141X	Q|S	+|+	1|2	0|0	PCBP2|PCBP2	52141112|52141112	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.556000|7.556000	0.82233|0.82233	2.822000|2.822000	0.97130|0.97130	0.558000|0.558000	0.71614|0.71614	CAA|TCA	PCBP2	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	ENSG00000197111		0.473	PCBP2-027	NOVEL	NAGNAG_splice_site|non_canonical_conserved|basic|CCDS	protein_coding	PCBP2	HGNC	protein_coding	OTTHUMT00000407545.2	149	0.00	0	C	NM_005016		53854845	53854845	+1	no_errors	ENST00000546463	ensembl	human	known	69_37n	nonsense	143	21.86	40	SNP	1.000	G
PCDH1	5097	genome.wustl.edu	37	5	141248316	141248316	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:141248316C>T	ENST00000394536.3	-	2	860	c.721G>A	c.(721-723)Gag>Aag	p.E241K	PCDH1_ENST00000511044.1_5'Flank|PCDH1_ENST00000456271.1_Missense_Mutation_p.E229K|PCDH1_ENST00000503492.1_Missense_Mutation_p.E241K|PCDH1_ENST00000536585.1_Missense_Mutation_p.E219K|PCDH1_ENST00000287008.3_Missense_Mutation_p.E241K	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	241	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)		TCCCAGCGCTCACGGTCCAGG	0.637																																					Ovarian(132;1609 1739 4190 14731 45037)	dbGAP											0													86.0	77.0	80.0					5																	141248316		2203	4300	6503	-	-	-	SO:0001583	missense	0			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	ENST00000394536.3:c.721G>A	5.37:g.141248316C>T	ENSP00000378043:p.Glu241Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IUP2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.E241K	ENST00000394536.3	37	c.721	CCDS43375.1	5	.	.	.	.	.	.	.	.	.	.	c	30	5.057275	0.93846	.	.	ENSG00000156453	ENST00000503492;ENST00000287008;ENST00000394536;ENST00000456271;ENST00000357517;ENST00000536585	T;T;T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65;-0.65;-0.65	4.47	4.47	0.54385	Cadherin (4);Cadherin-like (1);	0.000000	0.52532	D	0.000080	D	0.89371	0.6696	H	0.97758	4.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.92837	0.6285	10	0.87932	D	0	.	15.0446	0.71816	0.0:1.0:0.0:0.0	.	241;241	Q08174;Q08174-2	PCDH1_HUMAN;.	K	241;241;241;229;252;219	ENSP00000424667:E241K;ENSP00000287008:E241K;ENSP00000378043:E241K;ENSP00000403497:E229K;ENSP00000350122:E252K;ENSP00000438825:E219K	ENSP00000287008:E241K	E	-	1	0	PCDH1	141228500	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	7.609000	0.82925	2.486000	0.83907	0.550000	0.68814	GAG	PCDH1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000156453		0.637	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PCDH1	HGNC	protein_coding	OTTHUMT00000251862.1	90	0.00	0	C	NM_032420		141248316	141248316	-1	no_errors	ENST00000287008	ensembl	human	known	69_37n	missense	74	26.00	26	SNP	1.000	T
PCDH11X	27328	genome.wustl.edu	37	X	91091032	91091032	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:91091032G>A	ENST00000373094.1	+	1	1374	c.529G>A	c.(529-531)Gaa>Aaa	p.E177K	PCDH11X_ENST00000395337.2_Missense_Mutation_p.E177K|PCDH11X_ENST00000373088.1_Missense_Mutation_p.E177K|PCDH11X_ENST00000504220.2_Missense_Mutation_p.E177K|PCDH11X_ENST00000298274.8_Missense_Mutation_p.E177K|PCDH11X_ENST00000373097.1_Missense_Mutation_p.E177K|PCDH11X_ENST00000361655.2_Missense_Mutation_p.E177K|PCDH11X_ENST00000406881.1_Missense_Mutation_p.E177K|PCDH11X_ENST00000361724.1_Missense_Mutation_p.E177K	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	177	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E177K(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TCAAAACTACGAACTAATTAA	0.303																																					NSCLC(38;925 1092 2571 38200 45895)	dbGAP											2	Substitution - Missense(2)	large_intestine(2)											31.0	32.0	32.0					X																	91091032		2199	4294	6493	-	-	-	SO:0001583	missense	0			AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.529G>A	X.37:g.91091032G>A	ENSP00000362186:p.Glu177Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E177K	ENST00000373094.1	37	c.529	CCDS14461.1	X	.	.	.	.	.	.	.	.	.	.	G	12.70	2.016987	0.35606	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72	4.44	2.5	0.30297	Cadherin (4);Cadherin-like (1);	0.121119	0.53938	D	0.000051	T	0.34424	0.0897	N	0.25332	0.735	0.40337	D	0.978994	B;B;B;B;B;B;B;B	0.25521	0.027;0.024;0.105;0.105;0.105;0.128;0.027;0.011	B;B;B;B;B;B;B;B	0.24848	0.019;0.005;0.033;0.033;0.033;0.056;0.019;0.019	T	0.34428	-0.9829	10	0.72032	D	0.01	.	11.9937	0.53189	0.0:0.415:0.585:0.0	.	177;177;177;177;177;177;177;177	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	K	177	ENSP00000378746:E177K;ENSP00000362186:E177K;ENSP00000362189:E177K;ENSP00000355040:E177K;ENSP00000362180:E177K;ENSP00000423762:E177K;ENSP00000355105:E177K;ENSP00000384758:E177K;ENSP00000298274:E177K	ENSP00000298274:E177K	E	+	1	0	PCDH11X	90977688	1.000000	0.71417	0.999000	0.59377	0.619000	0.37552	3.465000	0.53064	0.983000	0.38602	-0.329000	0.08387	GAA	PCDH11X	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000102290		0.303	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH11X	HGNC	protein_coding	OTTHUMT00000057436.1	41	0.00	0	G	NM_032969		91091032	91091032	+1	no_errors	ENST00000373094	ensembl	human	known	69_37n	missense	24	33.33	12	SNP	1.000	A
PCDH17	27253	genome.wustl.edu	37	13	58208748	58208748	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr13:58208748G>A	ENST00000377918.3	+	1	2094	c.2068G>A	c.(2068-2070)Gag>Aag	p.E690K		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	690	Cadherin 6. {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)		ATCCCTTCCCGAGGGGGTACC	0.632																																					Melanoma(72;952 1291 1619 12849 33676)	dbGAP											0													71.0	71.0	71.0					13																	58208748		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.2068G>A	13.37:g.58208748G>A	ENSP00000367151:p.Glu690Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E690K	ENST00000377918.3	37	c.2068	CCDS31986.1	13	.	.	.	.	.	.	.	.	.	.	G	14.95	2.687189	0.48097	.	.	ENSG00000118946	ENST00000377918	T	0.51817	0.69	5.32	5.32	0.75619	Cadherin (1);	0.051465	0.85682	D	0.000000	T	0.48077	0.1480	M	0.69248	2.105	0.80722	D	1	P;P	0.41569	0.727;0.755	B;B	0.36030	0.216;0.107	T	0.51553	-0.8691	9	.	.	.	.	19.0155	0.92892	0.0:0.0:1.0:0.0	.	690;690	O14917-2;O14917	.;PCD17_HUMAN	K	690	ENSP00000367151:E690K	.	E	+	1	0	PCDH17	57106749	1.000000	0.71417	1.000000	0.80357	0.579000	0.36224	9.869000	0.99810	2.482000	0.83794	0.561000	0.74099	GAG	PCDH17	-	pfscan_Cadherin	ENSG00000118946		0.632	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH17	HGNC	protein_coding	OTTHUMT00000045139.1	13	0.00	0	G	NM_001040429		58208748	58208748	+1	no_errors	ENST00000377918	ensembl	human	known	69_37n	missense	7	73.08	19	SNP	1.000	A
PCDH18	54510	genome.wustl.edu	37	4	138442192	138442192	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:138442192G>C	ENST00000344876.4	-	4	3785	c.3399C>G	c.(3397-3399)cgC>cgG	p.R1133R	PCDH18_ENST00000510305.1_Silent_p.R344R|PCDH18_ENST00000412923.2_Silent_p.R1132R|PCDH18_ENST00000507846.1_Silent_p.R912R|PCDH18_ENST00000511115.1_Silent_p.R313R	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	1133	Interaction with DAB1. {ECO:0000250}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CCTAGCTCTGGCGGACATCTT	0.418																																						dbGAP											0													54.0	52.0	53.0					4																	138442192		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.3399C>G	4.37:g.138442192G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7K3|B7ZKT1|Q52LS2	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.R1133	ENST00000344876.4	37	c.3399	CCDS34064.1	4																																																																																			PCDH18	-	NULL	ENSG00000189184		0.418	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH18	HGNC	protein_coding	OTTHUMT00000364614.1	38	0.00	0	G	NM_019035		138442192	138442192	-1	no_errors	ENST00000344876	ensembl	human	known	69_37n	silent	32	13.51	5	SNP	1.000	C
PCDH18	54510	genome.wustl.edu	37	4	138452321	138452321	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:138452321G>C	ENST00000344876.4	-	1	1308	c.922C>G	c.(922-924)Ctt>Gtt	p.L308V	PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.L308V|PCDH18_ENST00000507846.1_Missense_Mutation_p.L88V|PCDH18_ENST00000511115.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	308	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TGCTTGAAAAGAGTCAAATGT	0.373																																						dbGAP											0													36.0	40.0	39.0					4																	138452321		2201	4299	6500	-	-	-	SO:0001583	missense	0			AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.922C>G	4.37:g.138452321G>C	ENSP00000355082:p.Leu308Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.L308V	ENST00000344876.4	37	c.922	CCDS34064.1	4	.	.	.	.	.	.	.	.	.	.	G	7.676	0.687930	0.14973	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	T;T;T	0.49432	0.78;0.78;0.78	5.89	5.89	0.94794	Cadherin (4);Cadherin-like (1);	0.000000	0.39083	N	0.001473	T	0.45875	0.1364	N	0.11106	0.095	0.80722	D	1	D;D;D	0.69078	0.972;0.997;0.966	P;D;P	0.63877	0.823;0.919;0.695	T	0.25012	-1.0144	10	0.02654	T	1	.	20.2527	0.98410	0.0:0.0:1.0:0.0	.	88;308;308	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	V	308;308;88	ENSP00000355082:L308V;ENSP00000390688:L308V;ENSP00000425903:L88V	ENSP00000355082:L308V	L	-	1	0	PCDH18	138671771	1.000000	0.71417	0.998000	0.56505	0.721000	0.41392	9.807000	0.99171	2.788000	0.95919	0.557000	0.71058	CTT	PCDH18	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000189184		0.373	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH18	HGNC	protein_coding	OTTHUMT00000364614.1	23	0.00	0	G	NM_019035		138452321	138452321	-1	no_errors	ENST00000344876	ensembl	human	known	69_37n	missense	26	16.13	5	SNP	1.000	C
PCDHA10	56139	genome.wustl.edu	37	5	140236531	140236531	+	Missense_Mutation	SNP	G	G	C	rs372611675		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:140236531G>C	ENST00000307360.5	+	1	898	c.898G>C	c.(898-900)Gaa>Caa	p.E300Q	PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.E300Q|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	300	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(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGGACGGGAGAAATAAAAGT	0.373																																						dbGAP											0													82.0	80.0	81.0					5																	140236531		2196	4269	6465	-	-	-	SO:0001583	missense	0			AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.898G>C	5.37:g.140236531G>C	ENSP00000304234:p.Glu300Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.E300Q	ENST00000307360.5	37	c.898	CCDS54921.1	5	.	.	.	.	.	.	.	.	.	.	G	17.43	3.387384	0.61956	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.53423	0.62;0.62	4.29	4.29	0.51040	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.53286	0.1787	M	0.68593	2.085	0.31742	N	0.635668	P;P;P	0.39601	0.68;0.589;0.593	B;B;B	0.42245	0.345;0.279;0.381	T	0.63825	-0.6549	9	0.46703	T	0.11	.	17.2947	0.87167	0.0:0.0:1.0:0.0	.	300;300;300	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	Q	300	ENSP00000421030:E300Q;ENSP00000304234:E300Q	ENSP00000304234:E300Q	E	+	1	0	PCDHA10	140216715	0.036000	0.19791	1.000000	0.80357	0.791000	0.44710	1.766000	0.38491	2.383000	0.81215	0.561000	0.74099	GAA	PCDHA10	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000250120		0.373	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA10	HGNC	protein_coding	OTTHUMT00000372895.2	40	0.00	0	G	NM_018901		140236531	140236531	+1	no_errors	ENST00000307360	ensembl	human	known	69_37n	missense	44	13.73	7	SNP	1.000	C
PCDHA12	56137	genome.wustl.edu	37	5	140256147	140256147	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:140256147C>G	ENST00000398631.2	+	1	1090	c.1090C>G	c.(1090-1092)Cag>Gag	p.Q364E	PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	364	Cadherin 4. {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)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGGATGCTCAGGTGGGTAC	0.532																																					Pancreas(113;759 1672 13322 24104 50104)	dbGAP											0													98.0	98.0	98.0					5																	140256147		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1090C>G	5.37:g.140256147C>G	ENSP00000381628:p.Gln364Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	O75278|Q2M1N8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.Q364E	ENST00000398631.2	37	c.1090	CCDS47285.1	5	.	.	.	.	.	.	.	.	.	.	C	1.454	-0.564140	0.03939	.	.	ENSG00000251664	ENST00000398631	T	0.01221	5.15	4.56	2.52	0.30459	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.00998	0.0033	N	0.05280	-0.08	0.09310	N	1	B;B	0.18968	0.011;0.032	B;B	0.30401	0.014;0.115	T	0.49062	-0.8978	9	0.46703	T	0.11	.	3.5553	0.07862	0.2606:0.4185:0.2397:0.0813	.	364;364	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	E	364	ENSP00000381628:Q364E	ENSP00000381628:Q364E	Q	+	1	0	PCDHA12	140236331	0.000000	0.05858	0.004000	0.12327	0.208000	0.24298	-1.115000	0.03289	0.966000	0.38159	0.655000	0.94253	CAG	PCDHA12	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000251664		0.532	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA12	HGNC	protein_coding	OTTHUMT00000372882.2	52	0.00	0	C	NM_018903		140256147	140256147	+1	no_errors	ENST00000398631	ensembl	human	known	69_37n	missense	46	28.12	18	SNP	0.000	G
PCDHA6	56142	genome.wustl.edu	37	5	140210053	140210053	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:140210053G>A	ENST00000529310.1	+	1	2491	c.2377G>A	c.(2377-2379)Gaa>Aaa	p.E793K	PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	793					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)			GGATTTAAATGAAGATCATGA	0.368																																						dbGAP											0													60.0	64.0	62.0					5																	140210053		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.2377G>A	5.37:g.140210053G>A	ENSP00000433378:p.Glu793Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O75283|Q9NRT8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E793K	ENST00000529310.1	37	c.2377	CCDS47281.1	5	.	.	.	.	.	.	.	.	.	.	G	6.372	0.436725	0.12104	.	.	ENSG00000081842	ENST00000529310	T	0.11385	2.78	4.23	2.18	0.27775	.	1.904610	0.04994	U	0.467825	T	0.07188	0.0182	N	0.19112	0.55	0.20975	N	0.999815	B;B	0.06786	0.0;0.001	B;B	0.08055	0.003;0.002	T	0.32079	-0.9920	10	0.06757	T	0.87	.	8.7119	0.34389	0.0:0.1424:0.5661:0.2915	.	793;793	Q9UN73-3;Q9UN73	.;PCDA6_HUMAN	K	793	ENSP00000433378:E793K	ENSP00000433378:E793K	E	+	1	0	PCDHA6	140190237	0.001000	0.12720	0.001000	0.08648	0.752000	0.42762	0.963000	0.29293	1.049000	0.40321	0.305000	0.20034	GAA	PCDHA6	-	NULL	ENSG00000081842		0.368	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA6	HGNC	protein_coding	OTTHUMT00000372829.3	39	0.00	0	G	NM_018909		140210053	140210053	+1	no_errors	ENST00000529310	ensembl	human	known	69_37n	missense	25	21.88	7	SNP	0.002	A
PCDHA7	56141	genome.wustl.edu	37	5	140214100	140214100	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:140214100C>T	ENST00000525929.1	+	1	132	c.132C>T	c.(130-132)ttC>ttT	p.F44F	PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.F44F|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	44	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGGCAACTTCGTGGGCCGCA	0.607																																					NSCLC(160;258 2013 5070 22440 28951)	dbGAP											0													57.0	71.0	66.0					5																	140214100		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.132C>T	5.37:g.140214100C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O75282	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F44	ENST00000525929.1	37	c.132	CCDS54918.1	5																																																																																			PCDHA7	-	pfam_Cadherin_N,superfamily_Cadherin-like	ENSG00000204963		0.607	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA7	HGNC	protein_coding	OTTHUMT00000372887.2	58	0.00	0	C	NM_018910		140214100	140214100	+1	no_errors	ENST00000525929	ensembl	human	known	69_37n	silent	43	24.56	14	SNP	0.997	T
PCDHA8	56140	genome.wustl.edu	37	5	140221355	140221355	+	Missense_Mutation	SNP	C	C	T	rs148555729	byFrequency	TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:140221355C>T	ENST00000531613.1	+	1	449	c.449C>T	c.(448-450)tCt>tTt	p.S150F	PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.S150F|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	150					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCCAGACTCTCGGTTTCCG	0.483																																						dbGAP											0													85.0	91.0	89.0					5																	140221355		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.449C>T	5.37:g.140221355C>T	ENSP00000434655:p.Ser150Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGT7|O75281	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S150F	ENST00000531613.1	37	c.449	CCDS54919.1	5	.	.	.	.	.	.	.	.	.	.	C	18.09	3.546010	0.65198	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.54071	0.59;0.59	3.72	2.85	0.33270	Cadherin (2);Cadherin-like (1);	0.000000	0.34025	U	0.004337	T	0.62502	0.2433	M	0.84326	2.69	0.09310	N	1	B;P	0.36315	0.136;0.547	P;B	0.45577	0.486;0.366	T	0.57734	-0.7760	10	0.51188	T	0.08	.	11.1892	0.48675	0.0:0.9075:0.0:0.0925	.	150;150	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	F	150	ENSP00000434655:S150F;ENSP00000367363:S150F	ENSP00000367363:S150F	S	+	2	0	PCDHA8	140201539	0.002000	0.14202	0.039000	0.18376	0.885000	0.51271	1.910000	0.39927	0.684000	0.31448	0.552000	0.68991	TCT	PCDHA8	-	pfam_Cadherin,superfamily_Cadherin-like	ENSG00000204962		0.483	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA8	HGNC	protein_coding	OTTHUMT00000372830.2	87	0.00	0	C	NM_018911		140221355	140221355	+1	no_errors	ENST00000531613	ensembl	human	known	69_37n	missense	51	30.14	22	SNP	0.021	T
PCDHA12	56137	genome.wustl.edu	37	5	140256956	140256956	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:140256956G>C	ENST00000398631.2	+	1	1899	c.1899G>C	c.(1897-1899)acG>acC	p.T633T	PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	633	Cadherin 6. {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)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGATCAGCACGACACGCATCC	0.677																																					Pancreas(113;759 1672 13322 24104 50104)	dbGAP											0													219.0	197.0	205.0					5																	140256956		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1899G>C	5.37:g.140256956G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O75278|Q2M1N8	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.T633	ENST00000398631.2	37	c.1899	CCDS47285.1	5																																																																																			PCDHA12	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000251664		0.677	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA12	HGNC	protein_coding	OTTHUMT00000372882.2	73	0.00	0	G	NM_018903		140256956	140256956	+1	no_errors	ENST00000398631	ensembl	human	known	69_37n	silent	37	21.28	10	SNP	0.351	C
PCDHAC1	56135	genome.wustl.edu	37	5	140306568	140306568	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:140306568G>A	ENST00000253807.2	+	1	91	c.91G>A	c.(91-93)Gag>Aag	p.E31K	PCDHA13_ENST00000289272.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.E31K|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	31	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGGAGACGGAGCGGGGCGT	0.632																																						dbGAP											0													77.0	93.0	87.0					5																	140306568		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"""Cadherins / Protocadherins : Clustered"""	8676	other	complex locus constituent	"""PCDH-ALPHA-C1"""	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.91G>A	5.37:g.140306568G>A	ENSP00000253807:p.Glu31Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9Y5F5|Q9Y5I5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E31K	ENST00000253807.2	37	c.91	CCDS4241.1	5	.	.	.	.	.	.	.	.	.	.	G	13.12	2.142338	0.37825	.	.	ENSG00000248383	ENST00000409700;ENST00000253807	T;T	0.29142	1.58;1.58	5.29	2.41	0.29592	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.27697	0.0681	L	0.35487	1.065	0.09310	N	1	B;B	0.25235	0.113;0.121	B;B	0.31290	0.088;0.127	T	0.20672	-1.0268	9	0.24483	T	0.36	.	16.0783	0.80982	0.0:0.3807:0.6193:0.0	.	31;31	Q9H158;Q9H158-2	PCDC1_HUMAN;.	K	31	ENSP00000386356:E31K;ENSP00000253807:E31K	ENSP00000253807:E31K	E	+	1	0	PCDHAC1	140286752	0.059000	0.20769	0.124000	0.21820	0.626000	0.37791	1.997000	0.40786	0.174000	0.19809	0.561000	0.74099	GAG	PCDHAC1	-	pfam_Cadherin_N,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000248383		0.632	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHAC1	HGNC	protein_coding	OTTHUMT00000251798.1	131	0.00	0	G	NM_018898		140306568	140306568	+1	no_errors	ENST00000253807	ensembl	human	known	69_37n	missense	67	28.72	27	SNP	0.021	A
PCDHB3	56132	genome.wustl.edu	37	5	140481735	140481735	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:140481735C>T	ENST00000231130.2	+	1	1502	c.1502C>T	c.(1501-1503)tCt>tTt	p.S501F	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	501	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGCCCCTCTCTTCCCTGGTC	0.657																																						dbGAP											0													61.0	66.0	64.0					5																	140481735		2202	4297	6499	-	-	-	SO:0001583	missense	0			AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.1502C>T	5.37:g.140481735C>T	ENSP00000231130:p.Ser501Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8P2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S501F	ENST00000231130.2	37	c.1502	CCDS4245.1	5	.	.	.	.	.	.	.	.	.	.	C	3.353	-0.132052	0.06753	.	.	ENSG00000113205	ENST00000231130	T	0.03181	4.02	4.05	0.578	0.17391	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.05044	0.0135	L	0.45470	1.425	0.09310	N	1	P	0.45531	0.86	B	0.43916	0.436	T	0.36792	-0.9733	9	0.52906	T	0.07	.	7.7339	0.28802	0.3419:0.5749:0.0:0.0833	.	501	Q9Y5E6	PCDB3_HUMAN	F	501	ENSP00000231130:S501F	ENSP00000231130:S501F	S	+	2	0	PCDHB3	140461919	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.041000	0.12084	0.122000	0.18314	-0.188000	0.12872	TCT	PCDHB3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000113205		0.657	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB3	HGNC	protein_coding	OTTHUMT00000251817.2	46	0.00	0	C	NM_018937		140481735	140481735	+1	no_errors	ENST00000231130	ensembl	human	known	69_37n	missense	42	25.00	14	SNP	0.004	T
PCDHB3	56132	genome.wustl.edu	37	5	140481751	140481751	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:140481751C>G	ENST00000231130.2	+	1	1518	c.1518C>G	c.(1516-1518)atC>atG	p.I506M	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	506	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTCTCCATCAACGCGGACA	0.672																																						dbGAP											0													58.0	62.0	61.0					5																	140481751		2201	4296	6497	-	-	-	SO:0001583	missense	0			AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.1518C>G	5.37:g.140481751C>G	ENSP00000231130:p.Ile506Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8P2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.I506M	ENST00000231130.2	37	c.1518	CCDS4245.1	5	.	.	.	.	.	.	.	.	.	.	C	7.365	0.625579	0.14257	.	.	ENSG00000113205	ENST00000231130	T	0.72615	-0.67	3.92	2.02	0.26589	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.83013	0.5162	M	0.87381	2.88	0.29010	N	0.886909	D	0.89917	1.0	D	0.97110	1.0	T	0.73569	-0.3941	9	0.87932	D	0	.	6.3104	0.21161	0.0:0.3541:0.4781:0.1678	.	506	Q9Y5E6	PCDB3_HUMAN	M	506	ENSP00000231130:I506M	ENSP00000231130:I506M	I	+	3	3	PCDHB3	140461935	0.004000	0.15560	0.747000	0.31113	0.010000	0.07245	-0.914000	0.04038	0.220000	0.20860	-0.311000	0.09066	ATC	PCDHB3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000113205		0.672	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB3	HGNC	protein_coding	OTTHUMT00000251817.2	58	0.00	0	C	NM_018937		140481751	140481751	+1	no_errors	ENST00000231130	ensembl	human	known	69_37n	missense	35	28.57	14	SNP	0.969	G
PCDHB4	56131	genome.wustl.edu	37	5	140502768	140502768	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:140502768G>A	ENST00000194152.1	+	1	1188	c.1188G>A	c.(1186-1188)ttG>ttA	p.L396L	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	396	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACCAACTTTGAAGAATTTTT	0.448																																						dbGAP											0													64.0	66.0	65.0					5																	140502768		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.1188G>A	5.37:g.140502768G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4V761	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L396	ENST00000194152.1	37	c.1188	CCDS4246.1	5																																																																																			PCDHB4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000081818		0.448	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB4	HGNC	protein_coding	OTTHUMT00000251812.2	65	0.00	0	G	NM_018938		140502768	140502768	+1	no_errors	ENST00000194152	ensembl	human	known	69_37n	silent	41	21.15	11	SNP	0.000	A
PCDHB5	26167	genome.wustl.edu	37	5	140516178	140516178	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:140516178C>G	ENST00000231134.5	+	1	1379	c.1162C>G	c.(1162-1164)Ctc>Gtc	p.L388V		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	388	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCAGAATGATCTCCCCTTTCT	0.473																																						dbGAP											0													78.0	83.0	81.0					5																	140516178		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.1162C>G	5.37:g.140516178C>G	ENSP00000231134:p.Leu388Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q549F4|Q9UFU9	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L388V	ENST00000231134.5	37	c.1162	CCDS4247.1	5	.	.	.	.	.	.	.	.	.	.	C	0.285	-0.984011	0.02180	.	.	ENSG00000113209	ENST00000231134;ENST00000537936	T	0.51325	0.71	4.95	3.09	0.35607	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.46964	0.1420	L	0.43701	1.375	0.09310	N	1	B	0.18741	0.03	B	0.36766	0.232	T	0.49862	-0.8894	9	0.48119	T	0.1	.	11.1977	0.48722	0.1321:0.4844:0.3836:0.0	.	388	Q9Y5E4	PCDB5_HUMAN	V	388;172	ENSP00000231134:L388V	ENSP00000231134:L388V	L	+	1	0	PCDHB5	140496362	0.000000	0.05858	0.281000	0.24762	0.155000	0.21991	-0.603000	0.05674	0.551000	0.29008	0.555000	0.69702	CTC	PCDHB5	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000113209		0.473	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB5	HGNC	protein_coding	OTTHUMT00000251811.1	60	0.00	0	C	NM_015669		140516178	140516178	+1	no_errors	ENST00000231134	ensembl	human	known	69_37n	missense	46	23.33	14	SNP	0.008	G
PCDHB7	56129	genome.wustl.edu	37	5	140553589	140553589	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:140553589C>A	ENST00000231137.3	+	1	1347	c.1173C>A	c.(1171-1173)ttC>ttA	p.F391L		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	391	Cadherin 4. {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)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATGTCCCCTTCATCCTGAAGC	0.478																																						dbGAP											0													74.0	75.0	74.0					5																	140553589		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1173C>A	5.37:g.140553589C>A	ENSP00000231137:p.Phe391Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3Y8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F391L	ENST00000231137.3	37	c.1173	CCDS4249.1	5	.	.	.	.	.	.	.	.	.	.	C	15.05	2.717730	0.48622	.	.	ENSG00000113212	ENST00000231137;ENST00000543636	T	0.70749	-0.51	4.61	0.764	0.18465	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.83603	0.5290	H	0.98883	4.36	0.24479	N	0.994356	B	0.31581	0.329	B	0.39738	0.308	T	0.77480	-0.2572	9	0.87932	D	0	.	9.3558	0.38166	0.0:0.6341:0.0:0.3659	.	391	Q9Y5E2	PCDB7_HUMAN	L	391;174	ENSP00000231137:F391L	ENSP00000231137:F391L	F	+	3	2	PCDHB7	140533773	0.000000	0.05858	0.212000	0.23672	0.769000	0.43574	-1.030000	0.03581	-0.097000	0.12307	0.650000	0.86243	TTC	PCDHB7	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000113212		0.478	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB7	HGNC	protein_coding	OTTHUMT00000251803.2	50	0.00	0	C	NM_018940		140553589	140553589	+1	no_errors	ENST00000231137	ensembl	human	known	69_37n	missense	37	27.45	14	SNP	0.110	A
PCDHB8	56128	genome.wustl.edu	37	5	140557670	140557670	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:140557670C>G	ENST00000239444.2	+	1	300	c.55C>G	c.(55-57)Ctc>Gtc	p.L19V		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	19					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTTTCCTTTCTCCTTTTGGG	0.517																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.55C>G	5.37:g.140557670C>G	ENSP00000239444:p.Leu19Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGV1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L19V	ENST00000239444.2	37	c.55	CCDS4250.1	5	.	.	.	.	.	.	.	.	.	.	c	0.013	-1.609881	0.00842	.	.	ENSG00000120322	ENST00000239444	T	0.50277	0.75	4.34	-8.68	0.00859	.	.	.	.	.	T	0.24774	0.0601	L	0.33189	0.99	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.24835	-1.0149	9	0.07990	T	0.79	.	6.3883	0.21574	0.0697:0.1552:0.4284:0.3467	.	19	Q9UN66	PCDB8_HUMAN	V	19	ENSP00000239444:L19V	ENSP00000239444:L19V	L	+	1	0	PCDHB8	140537854	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.666000	0.00399	-2.446000	0.00546	-0.182000	0.12963	CTC	PCDHB8	-	NULL	ENSG00000120322		0.517	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB8	HGNC	protein_coding	OTTHUMT00000251816.2	358	0.00	0	C	NM_019120		140557670	140557670	+1	no_errors	ENST00000239444	ensembl	human	known	69_37n	missense	285	10.94	35	SNP	0.000	G
PCDHB8	56128	genome.wustl.edu	37	5	140559780	140559780	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:140559780C>T	ENST00000239444.2	+	1	2410	c.2165C>T	c.(2164-2166)tCg>tTg	p.S722L	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	722					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGGCGGCCTCGGTGGGTCGC	0.642																																						dbGAP											0													84.0	88.0	87.0					5																	140559780		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.2165C>T	5.37:g.140559780C>T	ENSP00000239444:p.Ser722Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGV1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S722L	ENST00000239444.2	37	c.2165	CCDS4250.1	5	.	.	.	.	.	.	.	.	.	.	C	12.56	1.975050	0.34848	.	.	ENSG00000120322	ENST00000239444	T	0.13538	2.58	4.22	3.34	0.38264	.	.	.	.	.	T	0.17746	0.0426	M	0.79343	2.45	0.09310	N	1	B	0.22003	0.063	B	0.20184	0.028	T	0.22312	-1.0220	9	0.22706	T	0.39	.	9.9729	0.41765	0.0:0.7925:0.2075:0.0	.	722	Q9UN66	PCDB8_HUMAN	L	722	ENSP00000239444:S722L	ENSP00000239444:S722L	S	+	2	0	PCDHB8	140539964	0.019000	0.18553	0.001000	0.08648	0.018000	0.09664	0.878000	0.28126	0.746000	0.32786	0.298000	0.19748	TCG	PCDHB8	-	NULL	ENSG00000120322		0.642	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB8	HGNC	protein_coding	OTTHUMT00000251816.2	36	0.00	0	C	NM_019120		140559780	140559780	+1	no_errors	ENST00000239444	ensembl	human	known	69_37n	missense	22	21.43	6	SNP	0.002	T
PCDHB16	57717	genome.wustl.edu	37	5	140562661	140562661	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:140562661C>T	ENST00000361016.2	+	1	1682	c.527C>T	c.(526-528)tCt>tTt	p.S176F		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	176	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCCCAAGCTCTCATTTCCGG	0.453																																						dbGAP											0													46.0	48.0	48.0					5																	140562661		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.527C>T	5.37:g.140562661C>T	ENSP00000354293:p.Ser176Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S176F	ENST00000361016.2	37	c.527	CCDS4251.1	5	.	.	.	.	.	.	.	.	.	.	C	3.006	-0.205053	0.06180	.	.	ENSG00000196963	ENST00000361016	T	0.53857	0.6	4.69	1.94	0.25998	Cadherin (4);Cadherin-like (1);	0.507329	0.14880	N	0.293020	T	0.41050	0.1142	L	0.49455	1.56	0.09310	N	1	B	0.10296	0.003	B	0.21151	0.033	T	0.29882	-0.9997	10	0.23891	T	0.37	.	4.7509	0.13059	0.2687:0.4955:0.0:0.2358	.	176	Q9NRJ7	PCDBG_HUMAN	F	176	ENSP00000354293:S176F	ENSP00000354293:S176F	S	+	2	0	PCDHB16	140542845	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.438000	0.21559	0.085000	0.17107	0.655000	0.94253	TCT	PCDHB16	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000196963		0.453	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB16	HGNC	protein_coding	OTTHUMT00000251800.1	74	0.00	0	C	NM_020957		140562661	140562661	+1	no_errors	ENST00000361016	ensembl	human	known	69_37n	missense	37	22.92	11	SNP	0.000	T
PCDHB16	57717	genome.wustl.edu	37	5	140562819	140562819	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:140562819C>T	ENST00000361016.2	+	1	1840	c.685C>T	c.(685-687)Cgt>Tgt	p.R229C		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	229	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTCAGGTCCGTATTGAAGT	0.527																																						dbGAP											0													72.0	69.0	70.0					5																	140562819		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.685C>T	5.37:g.140562819C>T	ENSP00000354293:p.Arg229Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R229C	ENST00000361016.2	37	c.685	CCDS4251.1	5	.	.	.	.	.	.	.	.	.	.	C	10.34	1.322427	0.23994	.	.	ENSG00000196963	ENST00000361016	T	0.01767	4.65	4.6	0.586	0.17434	Cadherin (4);Cadherin-like (1);	1.908910	0.03371	N	0.198920	T	0.08088	0.0202	M	0.83384	2.64	0.09310	N	1	D	0.56746	0.977	P	0.55011	0.766	T	0.22103	-1.0226	10	0.56958	D	0.05	.	6.5632	0.22497	0.4331:0.4263:0.0:0.1406	.	229	Q9NRJ7	PCDBG_HUMAN	C	229	ENSP00000354293:R229C	ENSP00000354293:R229C	R	+	1	0	PCDHB16	140543003	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.375000	0.02563	0.068000	0.16574	-0.958000	0.02645	CGT	PCDHB16	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000196963		0.527	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB16	HGNC	protein_coding	OTTHUMT00000251800.1	42	0.00	0	C	NM_020957		140562819	140562819	+1	no_errors	ENST00000361016	ensembl	human	known	69_37n	missense	18	52.63	20	SNP	0.000	T
PCDHB13	56123	genome.wustl.edu	37	5	140593758	140593758	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:140593758G>A	ENST00000341948.4	+	1	250	c.63G>A	c.(61-63)ttG>ttA	p.L21L		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	21					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCTCCTTTTGGGCTTATCTC	0.527																																						dbGAP											0													29.0	28.0	29.0					5																	140593758		2200	4288	6488	-	-	-	SO:0001819	synonymous_variant	0			AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.63G>A	5.37:g.140593758G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9V6	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L21	ENST00000341948.4	37	c.63	CCDS4255.1	5																																																																																			PCDHB13	-	NULL	ENSG00000187372		0.527	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB13	HGNC	protein_coding	OTTHUMT00000251810.1	129	0.00	0	G	NM_018933		140593758	140593758	+1	no_errors	ENST00000341948	ensembl	human	known	69_37n	silent	70	43.55	54	SNP	0.006	A
PCDHGA1	56114	genome.wustl.edu	37	5	140711611	140711611	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:140711611C>T	ENST00000517417.1	+	1	1360	c.1360C>T	c.(1360-1362)Cag>Tag	p.Q454*	AC005618.6_ENST00000606901.1_lincRNA|PCDHGA1_ENST00000378105.3_Nonsense_Mutation_p.Q454*	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	454	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(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTCTTCCATCAGGACTCCTA	0.468																																						dbGAP											0													130.0	132.0	131.0					5																	140711611		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.1360C>T	5.37:g.140711611C>T	ENSP00000431083:p.Gln454*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M273|Q9Y5D6	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q454*	ENST00000517417.1	37	c.1360	CCDS54922.1	5	.	.	.	.	.	.	.	.	.	.	C	10.10	1.257883	0.22965	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	.	.	.	3.89	2.03	0.26663	.	0.307705	0.23289	N	0.049806	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	6.973	0.24658	0.318:0.3713:0.3107:0.0	.	.	.	.	X	454	.	ENSP00000367345:Q454X	Q	+	1	0	PCDHGA1	140691795	0.000000	0.05858	0.234000	0.24042	0.181000	0.23173	-0.844000	0.04345	0.394000	0.25230	-0.182000	0.12963	CAG	PCDHGA1	-	superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin	ENSG00000204956		0.468	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHGA1	HGNC	protein_coding	OTTHUMT00000374737.1	94	0.00	0	C	NM_018912		140711611	140711611	+1	no_errors	ENST00000517417	ensembl	human	known	69_37n	nonsense	63	26.74	23	SNP	0.000	T
PCDHGA1	56114	genome.wustl.edu	37	5	140711667	140711667	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:140711667C>G	ENST00000517417.1	+	1	1416	c.1416C>G	c.(1414-1416)ttC>ttG	p.F472L	AC005618.6_ENST00000606901.1_lincRNA|PCDHGA1_ENST00000378105.3_Missense_Mutation_p.F472L	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	472	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(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCCATCTTCTCTGTGAGGG	0.507																																						dbGAP											0													110.0	120.0	117.0					5																	140711667		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.1416C>G	5.37:g.140711667C>G	ENSP00000431083:p.Phe472Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M273|Q9Y5D6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F472L	ENST00000517417.1	37	c.1416	CCDS54922.1	5	.	.	.	.	.	.	.	.	.	.	C	6.369	0.436227	0.12104	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.01665	4.7;4.7	3.94	0.957	0.19613	Cadherin (3);Cadherin-like (1);	0.280761	0.25035	N	0.033643	T	0.01661	0.0053	L	0.37561	1.115	0.09310	N	1	B;B	0.16166	0.016;0.008	B;B	0.20384	0.017;0.029	T	0.44452	-0.9327	10	0.44086	T	0.13	.	5.5512	0.17091	0.0:0.5794:0.1432:0.2774	.	472;472	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	L	472	ENSP00000431083:F472L;ENSP00000367345:F472L	ENSP00000367345:F472L	F	+	3	2	PCDHGA1	140691851	0.000000	0.05858	0.260000	0.24451	0.897000	0.52465	-2.383000	0.01063	0.079000	0.16929	0.650000	0.86243	TTC	PCDHGA1	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000204956		0.507	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHGA1	HGNC	protein_coding	OTTHUMT00000374737.1	80	0.00	0	C	NM_018912		140711667	140711667	+1	no_errors	ENST00000517417	ensembl	human	known	69_37n	missense	61	22.78	18	SNP	0.000	G
PCDHGA1	56114	genome.wustl.edu	37	5	140712155	140712155	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:140712155G>C	ENST00000517417.1	+	1	1904	c.1904G>C	c.(1903-1905)aGa>aCa	p.R635T	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.R635T	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	635	Cadherin 6. {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(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCTGGACAGAGACGCGCTC	0.706																																						dbGAP											0													35.0	39.0	38.0					5																	140712155		2201	4297	6498	-	-	-	SO:0001583	missense	0			AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.1904G>C	5.37:g.140712155G>C	ENSP00000431083:p.Arg635Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M273|Q9Y5D6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R635T	ENST00000517417.1	37	c.1904	CCDS54922.1	5	.	.	.	.	.	.	.	.	.	.	G	15.47	2.844291	0.51164	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.59772	0.24;0.24	3.92	3.03	0.35002	Cadherin (4);Cadherin-like (1);	0.124406	0.36200	N	0.002736	T	0.41971	0.1182	N	0.17800	0.525	0.22511	N	0.999038	P;P	0.41041	0.69;0.736	B;P	0.44673	0.379;0.457	T	0.32188	-0.9916	10	0.87932	D	0	.	4.5251	0.11978	0.301:0.0:0.699:0.0	.	635;635	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	T	635	ENSP00000431083:R635T;ENSP00000367345:R635T	ENSP00000367345:R635T	R	+	2	0	PCDHGA1	140692339	0.000000	0.05858	1.000000	0.80357	0.993000	0.82548	0.071000	0.14594	2.204000	0.70986	0.580000	0.79431	AGA	PCDHGA1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000204956		0.706	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHGA1	HGNC	protein_coding	OTTHUMT00000374737.1	34	0.00	0	G	NM_018912		140712155	140712155	+1	no_errors	ENST00000517417	ensembl	human	known	69_37n	missense	18	37.93	11	SNP	1.000	C
PCDHGA1	56114	genome.wustl.edu	37	5	140712450	140712450	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:140712450G>A	ENST00000517417.1	+	1	2199	c.2199G>A	c.(2197-2199)gcG>gcA	p.A733A	PCDHGA1_ENST00000378105.3_Silent_p.A733A	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	733					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGCTTAGCGAGCATGCCCG	0.647																																						dbGAP											0													69.0	73.0	71.0					5																	140712450		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.2199G>A	5.37:g.140712450G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M273|Q9Y5D6	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A733	ENST00000517417.1	37	c.2199	CCDS54922.1	5																																																																																			PCDHGA1	-	NULL	ENSG00000204956		0.647	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHGA1	HGNC	protein_coding	OTTHUMT00000374737.1	98	0.00	0	G	NM_018912		140712450	140712450	+1	no_errors	ENST00000517417	ensembl	human	known	69_37n	silent	66	17.50	14	SNP	0.000	A
PCDHGB1	56104	genome.wustl.edu	37	5	140730773	140730773	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:140730773G>A	ENST00000523390.1	+	1	946	c.946G>A	c.(946-948)Gaa>Aaa	p.E316K	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	316	Cadherin 3. {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)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTGAGTGTGGAAGCTAAGGA	0.418																																						dbGAP											0													107.0	108.0	108.0					5																	140730773		1965	4169	6134	-	-	-	SO:0001583	missense	0			AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"""Cadherins / Protocadherins : Clustered"""	8708	other	protocadherin	"""protocadherin gamma subfamily B, 1, isoform 2"""	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.946G>A	5.37:g.140730773G>A	ENSP00000429273:p.Glu316Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3SY75|Q9Y5C8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E316K	ENST00000523390.1	37	c.946	CCDS54923.1	5	.	.	.	.	.	.	.	.	.	.	.	13.67	2.305122	0.40795	.	.	ENSG00000254221	ENST00000523390	T	0.01705	4.68	5.43	5.43	0.79202	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.07458	0.0188	L	0.57130	1.785	0.23758	N	0.996921	D;D	0.58268	0.982;0.965	P;P	0.61722	0.767;0.893	T	0.11665	-1.0578	9	0.56958	D	0.05	.	14.2696	0.66143	0.0:0.2676:0.7324:0.0	.	316;316	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	K	316	ENSP00000429273:E316K	ENSP00000429273:E316K	E	+	1	0	PCDHGB1	140710957	0.002000	0.14202	0.998000	0.56505	0.410000	0.31052	0.280000	0.18790	2.706000	0.92434	0.563000	0.77884	GAA	PCDHGB1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000254221		0.418	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB1	HGNC	protein_coding	OTTHUMT00000374740.1	63	0.00	0	G	NM_018922		140730773	140730773	+1	no_errors	ENST00000523390	ensembl	human	known	69_37n	missense	42	17.65	9	SNP	0.940	A
PCDHGB1	56104	genome.wustl.edu	37	5	140732107	140732107	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:140732107G>C	ENST00000523390.1	+	1	2280	c.2280G>C	c.(2278-2280)gaG>gaC	p.E760D	PCDHGA4_ENST00000571252.1_5'Flank|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	760					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAAGACAGAGTTTAATTCTC	0.488																																						dbGAP											0													92.0	89.0	90.0					5																	140732107		1965	4169	6134	-	-	-	SO:0001583	missense	0			AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"""Cadherins / Protocadherins : Clustered"""	8708	other	protocadherin	"""protocadherin gamma subfamily B, 1, isoform 2"""	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.2280G>C	5.37:g.140732107G>C	ENSP00000429273:p.Glu760Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3SY75|Q9Y5C8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E760D	ENST00000523390.1	37	c.2280	CCDS54923.1	5	.	.	.	.	.	.	.	.	.	.	.	2.203	-0.382468	0.04966	.	.	ENSG00000254221	ENST00000523390	T	0.46819	0.86	5.25	-2.42	0.06542	.	.	.	.	.	T	0.33904	0.0879	L	0.50333	1.59	0.20074	N	0.999932	B;B	0.21147	0.052;0.026	B;B	0.28709	0.093;0.031	T	0.41484	-0.9506	9	0.05525	T	0.97	.	7.5301	0.27679	0.1827:0.2836:0.5337:0.0	.	760;760	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	D	760	ENSP00000429273:E760D	ENSP00000429273:E760D	E	+	3	2	PCDHGB1	140712291	0.000000	0.05858	0.011000	0.14972	0.103000	0.19146	-0.991000	0.03728	-0.357000	0.08175	0.655000	0.94253	GAG	PCDHGB1	-	NULL	ENSG00000254221		0.488	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB1	HGNC	protein_coding	OTTHUMT00000374740.1	68	0.00	0	G	NM_018922		140732107	140732107	+1	no_errors	ENST00000523390	ensembl	human	known	69_37n	missense	32	50.00	32	SNP	0.785	C
PCDHGA4	56111	genome.wustl.edu	37	5	140735109	140735109	+	Silent	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:140735109G>T	ENST00000571252.1	+	1	342	c.342G>T	c.(340-342)gtG>gtT	p.V114V	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	114	Cadherin 1. {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)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGATACAGTGAAGATTTTGC	0.458																																						dbGAP											0													50.0	54.0	53.0					5																	140735109		1967	4198	6165	-	-	-	SO:0001819	synonymous_variant	0			AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.342G>T	5.37:g.140735109G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9Y5D3	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V114	ENST00000571252.1	37	c.342	CCDS58979.1	5																																																																																			PCDHGA4	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000262576		0.458	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA4	HGNC	protein_coding	OTTHUMT00000437959.1	67	0.00	0	G	NM_018917		140735109	140735109	+1	no_errors	ENST00000571252	ensembl	human	known	69_37n	silent	49	24.62	16	SNP	0.993	T
PCDHGA7	56108	genome.wustl.edu	37	5	140762875	140762875	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:140762875G>A	ENST00000518325.1	+	1	409	c.409G>A	c.(409-411)Gaa>Aaa	p.E137K	PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	137	Cadherin 2. {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)			NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTGACGGAAGAAATAAATGT	0.403																																						dbGAP											0													58.0	63.0	62.0					5																	140762875		1908	4135	6043	-	-	-	SO:0001583	missense	0			AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"""Cadherins / Protocadherins : Clustered"""	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.409G>A	5.37:g.140762875G>A	ENSP00000430024:p.Glu137Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RN87|Q9Y5D0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E137K	ENST00000518325.1	37	c.409	CCDS54927.1	5	.	.	.	.	.	.	.	.	.	.	.	13.14	2.146760	0.37923	.	.	ENSG00000253537	ENST00000518325	T	0.20881	2.04	5.01	5.01	0.66863	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.24928	0.0605	L	0.56340	1.77	0.25083	N	0.990911	B;B	0.20164	0.042;0.035	B;B	0.29663	0.066;0.105	T	0.09443	-1.0674	9	0.46703	T	0.11	.	11.7957	0.52098	0.0817:0.0:0.9183:0.0	.	137;137	Q9Y5G6;Q9Y5G6-2	PCDG7_HUMAN;.	K	137	ENSP00000430024:E137K	ENSP00000430024:E137K	E	+	1	0	PCDHGA7	140743059	0.002000	0.14202	0.998000	0.56505	0.861000	0.49209	1.111000	0.31159	2.475000	0.83589	0.655000	0.94253	GAA	PCDHGA7	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000253537		0.403	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA7	HGNC	protein_coding	OTTHUMT00000374744.1	45	0.00	0	G	NM_018920		140762875	140762875	+1	no_errors	ENST00000518325	ensembl	human	known	69_37n	missense	24	45.45	20	SNP	0.984	A
PCDHGA7	56108	genome.wustl.edu	37	5	140763855	140763855	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:140763855G>C	ENST00000518325.1	+	1	1389	c.1389G>C	c.(1387-1389)gaG>gaC	p.E463D	PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	463	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)			NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACATCGCTGAGAACAACCCCA	0.527																																						dbGAP											0													64.0	67.0	66.0					5																	140763855		1923	4138	6061	-	-	-	SO:0001583	missense	0			AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"""Cadherins / Protocadherins : Clustered"""	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.1389G>C	5.37:g.140763855G>C	ENSP00000430024:p.Glu463Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RN87|Q9Y5D0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E463D	ENST00000518325.1	37	c.1389	CCDS54927.1	5	.	.	.	.	.	.	.	.	.	.	.	14.24	2.476559	0.44044	.	.	ENSG00000253537	ENST00000518325	T	0.75367	-0.93	5.39	0.45	0.16624	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.90212	0.6940	H	0.98682	4.3	0.23708	N	0.99706	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80412	-0.1393	9	0.87932	D	0	.	9.9827	0.41824	0.5203:0.0:0.4797:0.0	.	463;463	Q9Y5G6;Q9Y5G6-2	PCDG7_HUMAN;.	D	463	ENSP00000430024:E463D	ENSP00000430024:E463D	E	+	3	2	PCDHGA7	140744039	1.000000	0.71417	0.964000	0.40570	0.665000	0.39181	1.155000	0.31700	-0.140000	0.11394	0.650000	0.86243	GAG	PCDHGA7	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin	ENSG00000253537		0.527	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA7	HGNC	protein_coding	OTTHUMT00000374744.1	58	0.00	0	G	NM_018920		140763855	140763855	+1	no_errors	ENST00000518325	ensembl	human	known	69_37n	missense	50	19.35	12	SNP	0.997	C
PCDHGB4	8641	genome.wustl.edu	37	5	140768028	140768028	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:140768028G>T	ENST00000519479.1	+	1	577	c.577G>T	c.(577-579)Gag>Tag	p.E193*	PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	193	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAAATACCCTGAGATGGTATT	0.443																																						dbGAP											0													69.0	71.0	70.0					5																	140768028		1910	4128	6038	-	-	-	SO:0001587	stop_gained	0			AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"""Cadherins / Protocadherins : Clustered"""	8711	other	protocadherin	"""fibroblast cadherin FIB2"", ""cadherin 20"""	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.577G>T	5.37:g.140768028G>T	ENSP00000428288:p.Glu193*	Somatic		WXS	Illumina GAIIx	Phase_IV	O15099|Q2M267|Q9UN64	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E193*	ENST00000519479.1	37	c.577	CCDS54928.1	5	.	.	.	.	.	.	.	.	.	.	.	21.0	4.089318	0.76756	.	.	ENSG00000253953	ENST00000519479	.	.	.	4.99	4.99	0.66335	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	18.6543	0.91445	0.0:0.0:1.0:0.0	.	.	.	.	X	193	.	ENSP00000428288:E193X	E	+	1	0	PCDHGB4	140748212	1.000000	0.71417	0.265000	0.24526	0.294000	0.27393	9.710000	0.98732	2.468000	0.83385	0.655000	0.94253	GAG	PCDHGB4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000253953		0.443	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB4	HGNC	protein_coding	OTTHUMT00000374745.1	23	0.00	0	G	NM_003736		140768028	140768028	+1	no_errors	ENST00000519479	ensembl	human	known	69_37n	nonsense	15	34.78	8	SNP	0.997	T
PCDHGB4	8641	genome.wustl.edu	37	5	140768279	140768279	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:140768279G>A	ENST00000519479.1	+	1	828	c.828G>A	c.(826-828)gaG>gaA	p.E276E	PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	276	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAATGCCGAGATTACTTTCT	0.468																																						dbGAP											0													98.0	99.0	99.0					5																	140768279		2008	4170	6178	-	-	-	SO:0001819	synonymous_variant	0			AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"""Cadherins / Protocadherins : Clustered"""	8711	other	protocadherin	"""fibroblast cadherin FIB2"", ""cadherin 20"""	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.828G>A	5.37:g.140768279G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O15099|Q2M267|Q9UN64	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E276	ENST00000519479.1	37	c.828	CCDS54928.1	5																																																																																			PCDHGB4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000253953		0.468	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB4	HGNC	protein_coding	OTTHUMT00000374745.1	47	0.00	0	G	NM_003736		140768279	140768279	+1	no_errors	ENST00000519479	ensembl	human	known	69_37n	silent	45	25.00	15	SNP	0.890	A
PCDHGB4	8641	genome.wustl.edu	37	5	140769359	140769359	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:140769359C>G	ENST00000519479.1	+	1	1908	c.1908C>G	c.(1906-1908)gtC>gtG	p.V636V	PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	636	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGACGCCGTCCGCCAGCGCC	0.697																																						dbGAP											0													42.0	46.0	44.0					5																	140769359		2111	4215	6326	-	-	-	SO:0001819	synonymous_variant	0			AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"""Cadherins / Protocadherins : Clustered"""	8711	other	protocadherin	"""fibroblast cadherin FIB2"", ""cadherin 20"""	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.1908C>G	5.37:g.140769359C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	O15099|Q2M267|Q9UN64	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V636	ENST00000519479.1	37	c.1908	CCDS54928.1	5																																																																																			PCDHGB4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000253953		0.697	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB4	HGNC	protein_coding	OTTHUMT00000374745.1	33	0.00	0	C	NM_003736		140769359	140769359	+1	no_errors	ENST00000519479	ensembl	human	known	69_37n	silent	30	36.17	17	SNP	0.026	G
PCDHGB4	8641	genome.wustl.edu	37	5	140769441	140769441	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:140769441G>A	ENST00000519479.1	+	1	1990	c.1990G>A	c.(1990-1992)Gac>Aac	p.D664N	PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_5'Flank	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	664	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTCTTCGCCGACAGCTTGCA	0.652																																						dbGAP											0													96.0	104.0	101.0					5																	140769441		2157	4259	6416	-	-	-	SO:0001583	missense	0			AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"""Cadherins / Protocadherins : Clustered"""	8711	other	protocadherin	"""fibroblast cadherin FIB2"", ""cadherin 20"""	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.1990G>A	5.37:g.140769441G>A	ENSP00000428288:p.Asp664Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O15099|Q2M267|Q9UN64	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D664N	ENST00000519479.1	37	c.1990	CCDS54928.1	5	.	.	.	.	.	.	.	.	.	.	.	16.53	3.148886	0.57151	.	.	ENSG00000253953	ENST00000519479	T	0.53640	0.61	5.5	5.5	0.81552	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.71846	0.3388	M	0.86573	2.825	0.32174	N	0.581314	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.992	T	0.78588	-0.2146	9	0.52906	T	0.07	.	13.3619	0.60661	0.076:0.0:0.924:0.0	.	664;664	Q9UN71-2;Q9UN71	.;PCDGG_HUMAN	N	664	ENSP00000428288:D664N	ENSP00000428288:D664N	D	+	1	0	PCDHGB4	140749625	1.000000	0.71417	0.947000	0.38551	0.033000	0.12548	6.994000	0.76251	2.584000	0.87258	0.563000	0.77884	GAC	PCDHGB4	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000253953		0.652	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB4	HGNC	protein_coding	OTTHUMT00000374745.1	69	0.00	0	G	NM_003736		140769441	140769441	+1	no_errors	ENST00000519479	ensembl	human	known	69_37n	missense	63	24.10	20	SNP	0.998	A
PCDHGA9	56107	genome.wustl.edu	37	5	140784179	140784179	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:140784179G>C	ENST00000573521.1	+	1	1660	c.1660G>C	c.(1660-1662)Gac>Cac	p.D554H	PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	554	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)			GTTTGTTTTGGACCAGAATGA	0.522																																						dbGAP											0													114.0	126.0	122.0					5																	140784179		2176	4296	6472	-	-	-	SO:0001583	missense	0			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.1660G>C	5.37:g.140784179G>C	ENSP00000460274:p.Asp554His	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RU65|Q9Y5C9	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D554H	ENST00000573521.1	37	c.1660	CCDS58981.1	5																																																																																			PCDHGA9	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000261934		0.522	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA9	HGNC	protein_coding	OTTHUMT00000437105.1	55	0.00	0	G	NM_018921		140784179	140784179	+1	no_errors	ENST00000573521	ensembl	human	known	69_37n	missense	51	19.05	12	SNP	1.000	C
PCDHGB6	56100	genome.wustl.edu	37	5	140789976	140789976	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:140789976G>A	ENST00000520790.1	+	1	2207	c.2207G>A	c.(2206-2208)gGa>gAa	p.G736E	PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA10_ENST00000398610.2_5'Flank|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	736					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)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCAAGTCTGGACCTGTAGTT	0.502																																						dbGAP											0													133.0	136.0	135.0					5																	140789976		2003	4182	6185	-	-	-	SO:0001583	missense	0			AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"""Cadherins / Protocadherins : Clustered"""	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.2207G>A	5.37:g.140789976G>A	ENSP00000428603:p.Gly736Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9Y5C5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G736E	ENST00000520790.1	37	c.2207	CCDS54929.1	5	.	.	.	.	.	.	.	.	.	.	g	11.55	1.672028	0.29693	.	.	ENSG00000253305	ENST00000520790	T	0.19669	2.13	5.18	1.39	0.22231	.	.	.	.	.	T	0.15825	0.0381	L	0.35723	1.085	0.09310	N	0.999996	B;B	0.14012	0.005;0.009	B;B	0.15484	0.013;0.012	T	0.25537	-1.0129	9	0.33940	T	0.23	.	8.5731	0.33581	0.3846:0.0:0.6154:0.0	.	736;736	Q9Y5F9;Q9Y5F9-2	PCDGI_HUMAN;.	E	736	ENSP00000428603:G736E	ENSP00000428603:G736E	G	+	2	0	PCDHGB6	140770160	0.000000	0.05858	0.139000	0.22197	0.941000	0.58515	0.310000	0.19356	0.217000	0.20800	0.563000	0.77884	GGA	PCDHGB6	-	NULL	ENSG00000253305		0.502	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB6	HGNC	protein_coding	OTTHUMT00000374746.1	130	0.00	0	G	NM_018926		140789976	140789976	+1	no_errors	ENST00000520790	ensembl	human	known	69_37n	missense	109	20.44	28	SNP	0.283	A
PCDHGA12	26025	genome.wustl.edu	37	5	140812361	140812361	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:140812361G>A	ENST00000252085.3	+	1	2177	c.2035G>A	c.(2035-2037)Gag>Aag	p.E679K	PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	679	Cadherin 6. {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)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCAGCCTCGAGTCTCCAGC	0.652																																						dbGAP											0													93.0	105.0	101.0					5																	140812361		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.2035G>A	5.37:g.140812361G>A	ENSP00000252085:p.Glu679Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E679K	ENST00000252085.3	37	c.2035	CCDS4260.1	5	.	.	.	.	.	.	.	.	.	.	g	10.76	1.441235	0.25900	.	.	ENSG00000253159	ENST00000252085	T	0.49720	0.77	5.1	1.02	0.19986	Cadherin (1);	.	.	.	.	T	0.25938	0.0632	N	0.19112	0.55	0.09310	N	1	B;B	0.16166	0.016;0.01	B;B	0.18263	0.021;0.005	T	0.20706	-1.0267	9	0.18710	T	0.47	.	3.2766	0.06901	0.3836:0.0:0.3317:0.2847	.	679;679	O60330-2;O60330	.;PCDGC_HUMAN	K	679	ENSP00000252085:E679K	ENSP00000252085:E679K	E	+	1	0	PCDHGA12	140792545	0.019000	0.18553	0.000000	0.03702	0.087000	0.18053	1.036000	0.30228	0.258000	0.21686	0.561000	0.74099	GAG	PCDHGA12	-	pfscan_Cadherin	ENSG00000253159		0.652	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA12	HGNC	protein_coding	OTTHUMT00000251806.2	55	0.00	0	G	NM_003735		140812361	140812361	+1	no_errors	ENST00000252085	ensembl	human	known	69_37n	missense	31	42.59	23	SNP	0.000	A
PCDHGC5	56097	genome.wustl.edu	37	5	140869185	140869185	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:140869185C>T	ENST00000252087.1	+	1	378	c.378C>T	c.(376-378)ctC>ctT	p.L126L	PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	126	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTGGATCTCAATGACAACT	0.567																																						dbGAP											0													76.0	76.0	76.0					5																	140869185		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"""Cadherins / Protocadherins : Clustered"""	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.378C>T	5.37:g.140869185C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9Y5C2	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L126	ENST00000252087.1	37	c.378	CCDS4263.1	5																																																																																			PCDHGC5	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000240764		0.567	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGC5	HGNC	protein_coding	OTTHUMT00000251819.1	33	0.00	0	C	NM_018929		140869185	140869185	+1	no_errors	ENST00000252087	ensembl	human	known	69_37n	silent	36	28.00	14	SNP	0.998	T
PCDHGA12	26025	genome.wustl.edu	37	5	140890725	140890725	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:140890725G>A	ENST00000252085.3	+	4	2926	c.2784G>A	c.(2782-2784)aaG>aaA	p.K928K	PCDHGA9_ENST00000573521.1_Silent_p.K928K|PCDHGB4_ENST00000519479.1_Silent_p.K919K|PCDHGA7_ENST00000518325.1_Silent_p.K928K|PCDHGA1_ENST00000517417.1_Silent_p.K927K|PCDHGB1_ENST00000523390.1_Silent_p.K923K|PCDHGA3_ENST00000253812.6_Silent_p.K928K|PCDHGA5_ENST00000518069.1_Silent_p.K927K|PCDHGB3_ENST00000576222.1_Silent_p.K925K|PCDHGA2_ENST00000394576.2_Silent_p.K928K|PCDHGC4_ENST00000306593.1_Silent_p.K934K|PCDHGB2_ENST00000522605.1_Silent_p.K927K|PCDHGC3_ENST00000308177.3_Silent_p.K930K|PCDHGC5_ENST00000252087.1_Silent_p.K940K|PCDHGA11_ENST00000518882.1_Silent_p.K746K|PCDHGA6_ENST00000517434.1_Silent_p.K928K|PCDHGB7_ENST00000398594.2_Silent_p.K925K|PCDHGA10_ENST00000398610.2_Silent_p.K932K|PCDHGB6_ENST00000520790.1_Silent_p.K926K|PCDHGA4_ENST00000571252.1_Silent_p.K927K|PCDHGA11_ENST00000398587.2_Silent_p.K931K|PCDHGA8_ENST00000398604.2_Silent_p.K928K	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	928					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTCGGGCAAGAAGGAGAAGA	0.597																																						dbGAP											0													67.0	64.0	65.0					5																	140890725		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.2784G>A	5.37:g.140890725G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O15100|Q6UW70|Q9Y5D7	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.K940	ENST00000252085.3	37	c.2820	CCDS4260.1	5																																																																																			PCDHGC5	-	NULL	ENSG00000240764		0.597	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGC5	HGNC	protein_coding	OTTHUMT00000251806.2	41	0.00	0	G	NM_003735		140890725	140890725	+1	no_errors	ENST00000252087	ensembl	human	known	69_37n	silent	33	21.43	9	SNP	1.000	A
PCGF1	84759	genome.wustl.edu	37	2	74733153	74733153	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:74733153G>A	ENST00000233630.6	-	5	1367	c.456C>T	c.(454-456)ttC>ttT	p.F152F	LBX2_ENST00000550249.1_5'Flank|LBX2-AS1_ENST00000548978.2_RNA|PCGF1_ENST00000480844.2_5'UTR|LBX2-AS1_ENST00000603175.1_RNA|LBX2_ENST00000460508.3_5'Flank	NM_032673.2	NP_116062.2	Q9BSM1	PCGF1_HUMAN	polycomb group ring finger 1	152	Required for repressor activity.				histone H2A monoubiquitination (GO:0035518)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(2)	12						CAAAGCTGCTGAAGGGGAGGC	0.552																																						dbGAP											0													162.0	164.0	163.0					2																	74733153		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF087884	CCDS1946.2	2p13.1	2013-01-09			ENSG00000115289	ENSG00000115289		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	17615	protein-coding gene	gene with protein product		610231				11287196	Standard	NM_032673		Approved	NSPC1, RNF68, MGC10882	uc002slz.3	Q9BSM1	OTTHUMG00000129954	ENST00000233630.6:c.456C>T	2.37:g.74733153G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z506	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.F152	ENST00000233630.6	37	c.456	CCDS1946.2	2																																																																																			PCGF1	-	NULL	ENSG00000115289		0.552	PCGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCGF1	HGNC	protein_coding	OTTHUMT00000252216.1	78	0.00	0	G	NM_032673		74733153	74733153	-1	no_errors	ENST00000233630	ensembl	human	known	69_37n	silent	100	17.36	21	SNP	1.000	A
PCGF5	84333	genome.wustl.edu	37	10	93011102	93011102	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:93011102G>A	ENST00000336126.5	+	6	611	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	PCGF5_ENST00000543648.1_Missense_Mutation_p.E127K	NM_001257101.1|NM_032373.4	NP_001244030.1|NP_115749.2	Q86SE9	PCGF5_HUMAN	polycomb group ring finger 5	127					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)	zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)	12						TGATGAAAATGAAGATGATAA	0.328																																					Colon(178;732 2696 46441 50370)	dbGAP											0													117.0	112.0	113.0					10																	93011102		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL832003	CCDS7413.1	10q23.33	2013-01-09	2005-01-17	2005-01-19	ENSG00000180628	ENSG00000180628		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	28264	protein-coding gene	gene with protein product			"""ring finger protein (C3HC4 type) 159"""	RNF159		8076819	Standard	NM_001256549		Approved	MGC16202	uc001khh.4	Q86SE9	OTTHUMG00000018740	ENST00000336126.5:c.379G>A	10.37:g.93011102G>A	ENSP00000337500:p.Glu127Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z892|D3DR33|Q6PK47|Q86TD0	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.E127K	ENST00000336126.5	37	c.379	CCDS7413.1	10	.	.	.	.	.	.	.	.	.	.	G	14.26	2.481852	0.44147	.	.	ENSG00000180628	ENST00000543648;ENST00000336126	T;T	0.47869	0.83;0.83	6.0	4.05	0.47172	.	0.475020	0.24029	N	0.042212	T	0.32941	0.0846	N	0.17723	0.515	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09357	-1.0678	10	0.14656	T	0.56	-9.8866	16.7182	0.85402	0.0:0.5863:0.4137:0.0	.	127	Q86SE9	PCGF5_HUMAN	K	127	ENSP00000445704:E127K;ENSP00000337500:E127K	ENSP00000337500:E127K	E	+	1	0	PCGF5	93001082	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.805000	0.38883	1.535000	0.49220	-0.232000	0.12228	GAA	PCGF5	-	NULL	ENSG00000180628		0.328	PCGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCGF5	HGNC	protein_coding	OTTHUMT00000049363.1	89	0.00	0	G	NM_032373		93011102	93011102	+1	no_errors	ENST00000336126	ensembl	human	known	69_37n	missense	45	31.82	21	SNP	1.000	A
PCK1	5105	genome.wustl.edu	37	20	56138162	56138162	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:56138162C>G	ENST00000319441.4	+	5	853	c.689C>G	c.(688-690)tCc>tGc	p.S230C	PCK1_ENST00000535860.1_Missense_Mutation_p.S98C|PCK1_ENST00000543666.1_Intron	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	230					carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			GAGATCATCTCCTTTGGCAGT	0.622																																						dbGAP											0													78.0	81.0	80.0					20																	56138162		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	4.1.1.32		8724	protein-coding gene	gene with protein product		614168				1492743	Standard	NM_002591		Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.689C>G	20.37:g.56138162C>G	ENSP00000319814:p.Ser230Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K437|B4DT64|Q8TCA3|Q9UJD2	Missense_Mutation	SNP	pfam_PEP_carboxykinase_GTP,superfamily_PEP_carboxykinase_N,pirsf_PEP_carboxykinase_GTP	p.S230C	ENST00000319441.4	37	c.689	CCDS13460.1	20	.	.	.	.	.	.	.	.	.	.	C	24.6	4.552670	0.86127	.	.	ENSG00000124253	ENST00000319441;ENST00000535860	T;T	0.08102	3.13;3.13	5.06	5.06	0.68205	Phosphoenolpyruvate carboxykinase, N-terminal (2);	0.052622	0.85682	D	0.000000	T	0.48624	0.1510	H	0.98446	4.235	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71130	-0.4682	10	0.87932	D	0	-45.3933	18.803	0.92025	0.0:1.0:0.0:0.0	.	230	P35558	PCKGC_HUMAN	C	230;98	ENSP00000319814:S230C;ENSP00000444342:S98C	ENSP00000319814:S230C	S	+	2	0	PCK1	55571568	1.000000	0.71417	1.000000	0.80357	0.708000	0.40852	7.338000	0.79269	2.520000	0.84964	0.655000	0.94253	TCC	PCK1	-	pfam_PEP_carboxykinase_GTP,superfamily_PEP_carboxykinase_N,pirsf_PEP_carboxykinase_GTP	ENSG00000124253		0.622	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCK1	HGNC	protein_coding	OTTHUMT00000079851.2	32	0.00	0	C			56138162	56138162	+1	no_errors	ENST00000319441	ensembl	human	known	69_37n	missense	76	12.64	11	SNP	1.000	G
PCLO	27445	genome.wustl.edu	37	7	82390020	82390020	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:82390020C>G	ENST00000333891.9	-	24	15560	c.15223G>C	c.(15223-15225)Gat>Cat	p.D5075H		NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.D5075N(2)		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						GGCTCTCGATCATGTCTGCAT	0.328																																						dbGAP											2	Substitution - Missense(2)	lung(2)											135.0	131.0	132.0					7																	82390020		1829	4073	5902	-	-	-	SO:0001583	missense	0			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.15223G>C	7.37:g.82390020C>G	ENSP00000334319:p.Asp5075His	Somatic		WXS	Illumina GAIIx	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.D5075H	ENST00000333891.9	37	c.15223	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	C	15.25	2.779044	0.49891	.	.	ENSG00000186472	ENST00000333891	T	0.08458	3.09	5.25	5.25	0.73442	.	0.000000	0.44902	U	0.000414	T	0.24275	0.0588	L	0.42245	1.32	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00567	-1.1667	10	0.87932	D	0	.	18.8516	0.92232	0.0:1.0:0.0:0.0	.	5075	Q9Y6V0-5	.	H	5075	ENSP00000334319:D5075H	ENSP00000334319:D5075H	D	-	1	0	PCLO	82227956	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.818000	0.86416	2.446000	0.82766	0.585000	0.79938	GAT	PCLO	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	ENSG00000186472		0.328	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	156	0.00	0	C	NM_014510		82390020	82390020	-1	no_errors	ENST00000333891	ensembl	human	known	69_37n	missense	114	21.92	32	SNP	1.000	G
PCLO	27445	genome.wustl.edu	37	7	82580240	82580240	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:82580240C>G	ENST00000333891.9	-	6	10001	c.9664G>C	c.(9664-9666)Gaa>Caa	p.E3222Q	PCLO_ENST00000437081.1_5'Flank|PCLO_ENST00000423517.2_Missense_Mutation_p.E3222Q	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						TTCTCCAGTTCCAGGAGCTCA	0.448																																						dbGAP											0													57.0	55.0	56.0					7																	82580240		1852	4104	5956	-	-	-	SO:0001583	missense	0			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.9664G>C	7.37:g.82580240C>G	ENSP00000334319:p.Glu3222Gln	Somatic		WXS	Illumina GAIIx	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.E3222Q	ENST00000333891.9	37	c.9664	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	C	5.789	0.329994	0.10956	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.37058	1.22;1.24	5.45	5.45	0.79879	.	.	.	.	.	T	0.45577	0.1349	M	0.63843	1.955	0.80722	D	1	B;P;P	0.46277	0.07;0.875;0.875	B;P;P	0.45037	0.023;0.467;0.467	T	0.50242	-0.8851	9	0.87932	D	0	.	18.8749	0.92331	0.0:1.0:0.0:0.0	.	3153;3222;3222	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	Q	3153;3222;3222	ENSP00000334319:E3222Q;ENSP00000388393:E3222Q	ENSP00000334319:E3222Q	E	-	1	0	PCLO	82418176	1.000000	0.71417	1.000000	0.80357	0.370000	0.29829	5.981000	0.70524	2.565000	0.86533	0.462000	0.41574	GAA	PCLO	-	NULL	ENSG00000186472		0.448	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	48	0.00	0	C	NM_014510		82580240	82580240	-1	no_errors	ENST00000333891	ensembl	human	known	69_37n	missense	35	18.60	8	SNP	1.000	G
PCLO	27445	genome.wustl.edu	37	7	82586002	82586002	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:82586002G>C	ENST00000333891.9	-	5	4604	c.4267C>G	c.(4267-4269)Caa>Gaa	p.Q1423E	PCLO_ENST00000423517.2_Missense_Mutation_p.Q1423E	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						GTACTTGCTTGAGCTTCCAAA	0.413																																						dbGAP											0													122.0	112.0	115.0					7																	82586002		1826	4080	5906	-	-	-	SO:0001583	missense	0			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.4267C>G	7.37:g.82586002G>C	ENSP00000334319:p.Gln1423Glu	Somatic		WXS	Illumina GAIIx	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.Q1423E	ENST00000333891.9	37	c.4267	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	G	12.59	1.982775	0.34942	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.17054	2.3;2.3	5.62	5.62	0.85841	.	.	.	.	.	T	0.42381	0.1200	M	0.71581	2.175	0.80722	D	1	D;D	0.64830	0.994;0.994	D;D	0.63283	0.913;0.913	T	0.25363	-1.0134	9	0.87932	D	0	.	19.661	0.95871	0.0:0.0:1.0:0.0	.	1423;1423	Q9Y6V0-5;Q9Y6V0-6	.;.	E	1354;1423;1423	ENSP00000334319:Q1423E;ENSP00000388393:Q1423E	ENSP00000334319:Q1423E	Q	-	1	0	PCLO	82423938	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.531000	0.60602	2.645000	0.89757	0.655000	0.94253	CAA	PCLO	-	NULL	ENSG00000186472		0.413	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	182	0.55	1	G	NM_014510		82586002	82586002	-1	no_errors	ENST00000333891	ensembl	human	known	69_37n	missense	140	21.79	39	SNP	1.000	C
PCLO	27445	genome.wustl.edu	37	7	82784483	82784483	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:82784483G>C	ENST00000333891.9	-	2	1811	c.1474C>G	c.(1474-1476)Caa>Gaa	p.Q492E	PCLO_ENST00000423517.2_Missense_Mutation_p.Q492E	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						CCAGGCTGTTGAGGTGGGGGC	0.617																																						dbGAP											0													80.0	89.0	86.0					7																	82784483		1945	4125	6070	-	-	-	SO:0001583	missense	0			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.1474C>G	7.37:g.82784483G>C	ENSP00000334319:p.Gln492Glu	Somatic		WXS	Illumina GAIIx	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.Q492E	ENST00000333891.9	37	c.1474	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	G	3.761	-0.049627	0.07407	.	.	ENSG00000186472	ENST00000333891;ENST00000423517	T;T	0.17854	2.26;2.25	4.81	4.81	0.61882	.	.	.	.	.	T	0.22589	0.0545	M	0.68317	2.08	0.30084	N	0.808917	B;B	0.21606	0.058;0.058	B;B	0.25291	0.059;0.059	T	0.08086	-1.0739	9	0.87932	D	0	.	11.6126	0.51069	0.0:0.1803:0.8197:0.0	.	492;492	Q9Y6V0-5;Q9Y6V0-6	.;.	E	492	ENSP00000334319:Q492E;ENSP00000388393:Q492E	ENSP00000334319:Q492E	Q	-	1	0	PCLO	82622419	1.000000	0.71417	0.468000	0.27192	0.070000	0.16714	4.815000	0.62634	2.378000	0.81104	0.561000	0.74099	CAA	PCLO	-	NULL	ENSG00000186472		0.617	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	67	0.00	0	G	NM_014510		82784483	82784483	-1	no_errors	ENST00000333891	ensembl	human	known	69_37n	missense	85	15.84	16	SNP	0.196	C
PCNT	5116	genome.wustl.edu	37	21	47754670	47754670	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr21:47754670G>C	ENST00000359568.5	+	3	734	c.627G>C	c.(625-627)ggG>ggC	p.G209G	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	209					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AACAGCGTGGGATGTTCACAA	0.453																																						dbGAP											0													145.0	119.0	128.0					21																	47754670		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.627G>C	21.37:g.47754670G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O43152|Q7Z7C9	Silent	SNP	pfam_PACT_domain	p.G209	ENST00000359568.5	37	c.627	CCDS33592.1	21																																																																																			PCNT	-	NULL	ENSG00000160299		0.453	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNT	HGNC	protein_coding	OTTHUMT00000207336.1	73	0.00	0	G	NM_006031		47754670	47754670	+1	no_errors	ENST00000359568	ensembl	human	known	69_37n	silent	97	24.22	31	SNP	0.000	C
PCNX	22990	genome.wustl.edu	37	14	71444508	71444508	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:71444508C>T	ENST00000304743.2	+	6	1900	c.1454C>T	c.(1453-1455)tCt>tTt	p.S485F	PCNX_ENST00000439984.3_Missense_Mutation_p.S485F|PCNX_ENST00000238570.5_Missense_Mutation_p.S485F	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	485						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CTCAGCACCTCTGCATCTGAA	0.493																																						dbGAP											0													38.0	40.0	40.0					14																	71444508		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.1454C>T	14.37:g.71444508C>T	ENSP00000304192:p.Ser485Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	pfam_Pecanex	p.S485F	ENST00000304743.2	37	c.1454	CCDS9806.1	14	.	.	.	.	.	.	.	.	.	.	c	0.115	-1.133477	0.01756	.	.	ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984	T;T;T	0.11277	3.24;3.24;2.79	5.33	4.45	0.53987	.	0.127282	0.53938	N	0.000050	T	0.17534	0.0421	N	0.19112	0.55	0.38782	D	0.954785	P;P;D	0.76494	0.949;0.949;0.999	P;P;D	0.70016	0.545;0.545;0.967	T	0.15578	-1.0432	10	0.27082	T	0.32	.	14.4181	0.67165	0.0:0.9296:0.0:0.0704	.	485;485;485	B2RTR6;Q96RV3;Q96RV3-2	.;PCX1_HUMAN;.	F	485	ENSP00000304192:S485F;ENSP00000238570:S485F;ENSP00000396617:S485F	ENSP00000238570:S485F	S	+	2	0	PCNX	70514261	1.000000	0.71417	1.000000	0.80357	0.427000	0.31564	2.660000	0.46749	1.500000	0.48636	-0.127000	0.14921	TCT	PCNX	-	NULL	ENSG00000100731		0.493	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNX	HGNC	protein_coding	OTTHUMT00000412479.1	33	0.00	0	C	NM_014982		71444508	71444508	+1	no_errors	ENST00000304743	ensembl	human	known	69_37n	missense	31	18.42	7	SNP	1.000	T
PCNX	22990	genome.wustl.edu	37	14	71514574	71514574	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:71514574C>G	ENST00000304743.2	+	22	4657	c.4211C>G	c.(4210-4212)tCt>tGt	p.S1404C	PCNX_ENST00000439984.3_Missense_Mutation_p.S1293C|PCNX_ENST00000238570.5_Missense_Mutation_p.S1404C	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1404						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CTACGATCCTCTTTTAGCAGC	0.378																																						dbGAP											0													236.0	201.0	212.0					14																	71514574		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.4211C>G	14.37:g.71514574C>G	ENSP00000304192:p.Ser1404Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	pfam_Pecanex	p.S1404C	ENST00000304743.2	37	c.4211	CCDS9806.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.79|18.79	3.698432|3.698432	0.68386|0.68386	.|.	.|.	ENSG00000100731|ENSG00000100731	ENST00000554691|ENST00000304743;ENST00000238570;ENST00000439984	.|T;T;T	.|0.11385	.|3.19;3.15;2.78	5.32|5.32	5.32|5.32	0.75619|0.75619	.|.	.|0.107964	.|0.64402	.|D	.|0.000003	T|T	0.29256|0.29256	0.0728|0.0728	L|L	0.48642|0.48642	1.525|1.525	0.80722|0.80722	D|D	1|1	.|D;B;D	.|0.89917	.|1.0;0.111;0.999	.|D;B;D	.|0.85130	.|0.997;0.059;0.993	T|T	0.00448|0.00448	-1.1733|-1.1733	5|10	.|0.54805	.|T	.|0.06	.|.	19.3539|19.3539	0.94402|0.94402	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1404;1293;1404	.|Q96RV3-3;B2RTR6;Q96RV3	.|.;.;PCX1_HUMAN	V|C	463|1404;1404;1293	.|ENSP00000304192:S1404C;ENSP00000238570:S1404C;ENSP00000396617:S1293C	.|ENSP00000238570:S1404C	L|S	+|+	1|2	0|0	PCNX|PCNX	70584327|70584327	1.000000|1.000000	0.71417|0.71417	0.907000|0.907000	0.35723|0.35723	0.851000|0.851000	0.48451|0.48451	6.044000|6.044000	0.71012|0.71012	2.640000|2.640000	0.89533|0.89533	0.591000|0.591000	0.81541|0.81541	CTT|TCT	PCNX	-	NULL	ENSG00000100731		0.378	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNX	HGNC	protein_coding	OTTHUMT00000412479.1	211	0.00	0	C	NM_014982		71514574	71514574	+1	no_errors	ENST00000304743	ensembl	human	known	69_37n	missense	87	50.85	90	SNP	1.000	G
PCNXL2	80003	genome.wustl.edu	37	1	233136090	233136090	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:233136090G>A	ENST00000258229.9	-	30	5523	c.5289C>T	c.(5287-5289)atC>atT	p.I1763I	PCNXL2_ENST00000344698.2_Silent_p.I415I	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1763						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TGTGGAGCATGATGACCTTGT	0.592																																						dbGAP											0													117.0	118.0	118.0					1																	233136090		2084	4209	6293	-	-	-	SO:0001819	synonymous_variant	0			AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.5289C>T	1.37:g.233136090G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Silent	SNP	pfam_Pecanex,superfamily_Pept_cys/ser_Trypsin-like	p.I1763	ENST00000258229.9	37	c.5289	CCDS44335.1	1																																																																																			PCNXL2	-	pfam_Pecanex,superfamily_Pept_cys/ser_Trypsin-like	ENSG00000135749		0.592	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL2	HGNC	protein_coding	OTTHUMT00000092480.3	33	0.00	0	G	NM_014801		233136090	233136090	-1	no_errors	ENST00000258229	ensembl	human	known	69_37n	silent	33	51.47	35	SNP	1.000	A
PCNXL2	80003	genome.wustl.edu	37	1	233353877	233353877	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:233353877G>C	ENST00000258229.9	-	11	2792	c.2558C>G	c.(2557-2559)tCc>tGc	p.S853C	PCNXL2_ENST00000430153.1_Missense_Mutation_p.S152C|PCNXL2_ENST00000488780.2_5'Flank	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	853						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TCCAAGGAGGGAAACCAGGAC	0.408																																						dbGAP											0													43.0	41.0	42.0					1																	233353877		1898	4121	6019	-	-	-	SO:0001583	missense	0			AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.2558C>G	1.37:g.233353877G>C	ENSP00000258229:p.Ser853Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	pfam_Pecanex,superfamily_Pept_cys/ser_Trypsin-like	p.S853C	ENST00000258229.9	37	c.2558	CCDS44335.1	1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.763677	0.89932	.	.	ENSG00000135749	ENST00000258229;ENST00000518351;ENST00000430153	T;T;T	0.64803	-0.12;-0.12;-0.12	5.52	5.52	0.82312	.	.	.	.	.	T	0.80486	0.4632	M	0.74881	2.28	0.50313	D	0.999869	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.979	T	0.81741	-0.0794	9	0.87932	D	0	.	19.8046	0.96525	0.0:0.0:1.0:0.0	.	152;853	A6NKB5-2;A6NKB5	.;PCX2_HUMAN	C	853;33;152	ENSP00000258229:S853C;ENSP00000429231:S33C;ENSP00000394703:S152C	ENSP00000258229:S853C	S	-	2	0	PCNXL2	231420500	1.000000	0.71417	0.223000	0.23860	0.978000	0.69477	9.237000	0.95368	2.754000	0.94517	0.650000	0.86243	TCC	PCNXL2	-	NULL	ENSG00000135749		0.408	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL2	HGNC	protein_coding	OTTHUMT00000092480.3	66	0.00	0	G	NM_014801		233353877	233353877	-1	no_errors	ENST00000258229	ensembl	human	known	69_37n	missense	79	21.78	22	SNP	0.979	C
PCNXL3	399909	genome.wustl.edu	37	11	65384451	65384451	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:65384451G>C	ENST00000355703.3	+	2	849	c.310G>C	c.(310-312)Gag>Cag	p.E104Q	MAP3K11_ENST00000309100.3_5'Flank	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	104						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GCTGGAGGAAGAGCCTGCCCA	0.592																																						dbGAP											0													31.0	30.0	30.0					11																	65384451		1928	4108	6036	-	-	-	SO:0001583	missense	0			BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.310G>C	11.37:g.65384451G>C	ENSP00000347931:p.Glu104Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6MZN8	Missense_Mutation	SNP	pfam_Pecanex	p.E104Q	ENST00000355703.3	37	c.310	CCDS44650.1	11	.	.	.	.	.	.	.	.	.	.	G	10.83	1.462039	0.26248	.	.	ENSG00000197136	ENST00000355703	T	0.62232	0.04	4.55	3.64	0.41730	.	.	.	.	.	T	0.52821	0.1758	L	0.49126	1.545	0.23893	N	0.996541	B	0.23058	0.079	B	0.17722	0.019	T	0.40440	-0.9563	9	0.30078	T	0.28	.	8.6908	0.34264	0.1038:0.0:0.8962:0.0	.	104	Q9H6A9	PCX3_HUMAN	Q	104	ENSP00000347931:E104Q	ENSP00000347931:E104Q	E	+	1	0	PCNXL3	65141027	1.000000	0.71417	0.308000	0.25141	0.342000	0.28953	6.003000	0.70701	1.283000	0.44513	-0.258000	0.10820	GAG	PCNXL3	-	NULL	ENSG00000197136		0.592	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL3	HGNC	protein_coding	OTTHUMT00000390321.1	26	0.00	0	G	NM_032223		65384451	65384451	+1	no_errors	ENST00000355703	ensembl	human	known	69_37n	missense	70	15.66	13	SNP	0.916	C
PCNXL3	399909	genome.wustl.edu	37	11	65384757	65384757	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:65384757C>G	ENST00000355703.3	+	3	917	c.378C>G	c.(376-378)gtC>gtG	p.V126V		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	126						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						TCCGGAAAGTCAGTTCCACAC	0.587																																						dbGAP											0													51.0	55.0	54.0					11																	65384757		2072	4198	6270	-	-	-	SO:0001819	synonymous_variant	0			BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.378C>G	11.37:g.65384757C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6MZN8	Silent	SNP	pfam_Pecanex	p.V126	ENST00000355703.3	37	c.378	CCDS44650.1	11																																																																																			PCNXL3	-	NULL	ENSG00000197136		0.587	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL3	HGNC	protein_coding	OTTHUMT00000390321.1	93	0.00	0	C	NM_032223		65384757	65384757	+1	no_errors	ENST00000355703	ensembl	human	known	69_37n	silent	142	17.44	30	SNP	0.999	G
PCOLCE	5118	genome.wustl.edu	37	7	100205426	100205426	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:100205426G>A	ENST00000223061.5	+	8	1459	c.1179G>A	c.(1177-1179)aaG>aaA	p.K393K		NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	393	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				multicellular organismal development (GO:0007275)|positive regulation of peptidase activity (GO:0010952)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCCCCATGAAGAAAGGTAACA	0.502																																						dbGAP											0													89.0	89.0	89.0					7																	100205426		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L33799	CCDS5700.1	7q22	2008-07-18			ENSG00000106333	ENSG00000106333			8738	protein-coding gene	gene with protein product	"""procollagen, type 1, COOH-terminal proteinase enhancer"", ""procollagen C-proteinase enhancer 1"""	600270				8824813, 9799793	Standard	NM_002593		Approved	PCPE, PCPE1	uc003uvo.3	Q15113	OTTHUMG00000156675	ENST00000223061.5:c.1179G>A	7.37:g.100205426G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9E1|O14550	Silent	SNP	pfam_CUB,pfam_Netrin_module_non-TIMP,superfamily_CUB,superfamily_TIMP-like_OB-fold,smart_CUB,smart_Netrin_module_non-TIMP,pfscan_CUB,pfscan_Netrin_domain	p.K393	ENST00000223061.5	37	c.1179	CCDS5700.1	7																																																																																			PCOLCE	-	pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,smart_Netrin_module_non-TIMP,pfscan_Netrin_domain	ENSG00000106333		0.502	PCOLCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCOLCE	HGNC	protein_coding	OTTHUMT00000345285.1	98	0.00	0	G	NM_002593		100205426	100205426	+1	no_errors	ENST00000223061	ensembl	human	known	69_37n	silent	80	31.03	36	SNP	0.999	A
PCOLCE2	26577	genome.wustl.edu	37	3	142537228	142537228	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:142537228G>C	ENST00000295992.3	-	9	1503	c.1197C>G	c.(1195-1197)ttC>ttG	p.F399L	PCOLCE2_ENST00000485766.1_3'UTR	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	399	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				positive regulation of peptidase activity (GO:0010952)	extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						TCTTGGTCTTGAACATCATGA	0.378																																						dbGAP											0													148.0	130.0	136.0					3																	142537228		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF098269	CCDS3127.1	3q21-q24	2008-07-18			ENSG00000163710	ENSG00000163710			8739	protein-coding gene	gene with protein product		607064				10873381	Standard	NM_013363		Approved	PCPE2	uc003evd.3	Q9UKZ9	OTTHUMG00000159312	ENST00000295992.3:c.1197C>G	3.37:g.142537228G>C	ENSP00000295992:p.Phe399Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCH9|D3DNG4|Q9BRH3	Missense_Mutation	SNP	pfam_CUB,pfam_Netrin_module_non-TIMP,superfamily_CUB,superfamily_TIMP-like_OB-fold,smart_CUB,smart_Netrin_module_non-TIMP,pfscan_CUB,pfscan_Netrin_domain	p.F399L	ENST00000295992.3	37	c.1197	CCDS3127.1	3	.	.	.	.	.	.	.	.	.	.	G	15.01	2.707689	0.48412	.	.	ENSG00000163710	ENST00000295992	T	0.21191	2.02	5.06	2.27	0.28462	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	0.099318	0.64402	N	0.000001	T	0.19805	0.0476	L	0.59912	1.85	0.80722	D	1	B	0.14012	0.009	B	0.20384	0.029	T	0.04373	-1.0956	10	0.62326	D	0.03	-10.2479	6.7397	0.23428	0.2332:0.1287:0.638:0.0	.	399	Q9UKZ9	PCOC2_HUMAN	L	399	ENSP00000295992:F399L	ENSP00000295992:F399L	F	-	3	2	PCOLCE2	144019918	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.263000	0.43293	0.164000	0.19529	-0.812000	0.03155	TTC	PCOLCE2	-	pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,smart_Netrin_module_non-TIMP,pfscan_Netrin_domain	ENSG00000163710		0.378	PCOLCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCOLCE2	HGNC	protein_coding	OTTHUMT00000354509.1	125	0.78	1	G	NM_013363		142537228	142537228	-1	no_errors	ENST00000295992	ensembl	human	known	69_37n	missense	92	36.73	54	SNP	1.000	C
PCSK4	54760	genome.wustl.edu	37	19	1488079	1488079	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:1488079G>A	ENST00000300954.5	-	4	461	c.400C>T	c.(400-402)Caa>Taa	p.Q134*	PCSK4_ENST00000587784.1_5'UTR|CTB-25B13.6_ENST00000585643.1_RNA	NM_017573.3	NP_060043.2			proprotein convertase subtilisin/kexin type 4											cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		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)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGTCTGGTTGGGCCTCGCTG	0.682																																						dbGAP											0													75.0	77.0	76.0					19																	1488079		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK057235	CCDS12069.2	19p13.3	2008-02-05			ENSG00000115257	ENSG00000115257			8746	protein-coding gene	gene with protein product		600487				7782070	Standard	XM_005259586		Approved	PC4, SPC5, DKFZp434B217, MGC34749	uc002ltb.1	Q6UW60	OTTHUMG00000128541	ENST00000300954.5:c.400C>T	19.37:g.1488079G>A	ENSP00000300954:p.Gln134*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,superfamily_Growth_fac_rcpt,smart_Furin_repeat,prints_Peptidase_S8_subtilisin-rel	p.Q134*	ENST00000300954.5	37	c.400	CCDS12069.2	19	.	.	.	.	.	.	.	.	.	.	G	17.01	3.278451	0.59758	.	.	ENSG00000115257	ENST00000300954	.	.	.	3.05	-1.25	0.09405	.	1.945420	0.03660	U	0.242443	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	2.4008	0.04400	0.1072:0.1551:0.4232:0.3145	.	.	.	.	X	134	.	ENSP00000300954:Q134X	Q	-	1	0	PCSK4	1439079	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	-0.631000	0.05496	-0.086000	0.12550	0.491000	0.48974	CAA	PCSK4	-	pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53	ENSG00000115257		0.682	PCSK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK4	HGNC	protein_coding	OTTHUMT00000449703.1	17	0.00	0	G	NM_017573		1488079	1488079	-1	no_errors	ENST00000300954	ensembl	human	known	69_37n	nonsense	18	28.00	7	SNP	0.002	A
PCSK5	5125	genome.wustl.edu	37	9	78601083	78601083	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:78601083G>A	ENST00000545128.1	+	3	871	c.333G>A	c.(331-333)cgG>cgA	p.R111R	PCSK5_ENST00000376767.3_Silent_p.R111R|PCSK5_ENST00000376752.4_Silent_p.R111R	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	111					anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TAAAAAAGCGGACAAAGAGGG	0.443																																						dbGAP											0													198.0	168.0	178.0					9																	78601083		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.333G>A	9.37:g.78601083G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	F5H2G7|Q13527|Q96EP4	Silent	SNP	pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EGF-like,prints_Peptidase_S8_subtilisin-rel	p.R111	ENST00000545128.1	37	c.333	CCDS55320.1	9																																																																																			PCSK5	-	NULL	ENSG00000099139		0.443	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK5	HGNC	protein_coding		110	0.00	0	G			78601083	78601083	+1	no_errors	ENST00000545128	ensembl	human	known	69_37n	silent	88	27.87	34	SNP	1.000	A
PCSK7	9159	genome.wustl.edu	37	11	117077851	117077851	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:117077851G>A	ENST00000320934.3	-	15	2442	c.1812C>T	c.(1810-1812)atC>atT	p.I604I	PCSK7_ENST00000529458.1_Intron|PCSK7_ENST00000540028.1_3'UTR	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	604					peptide hormone processing (GO:0016486)|protein processing (GO:0016485)	integral component of Golgi membrane (GO:0030173)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		ATTGCCGGAGGATGCCGACCT	0.617			T	IGH@	MLCLS																																	dbGAP		Dom	yes		11	11q23.3	9159	proprotein convertase subtilisin/kexin type 7		L	0													52.0	51.0	51.0					11																	117077851		2200	4274	6474	-	-	-	SO:0001819	synonymous_variant	0			U40623	CCDS8382.1	11q23-q24	2008-02-01			ENSG00000160613	ENSG00000160613			8748	protein-coding gene	gene with protein product		604872				8615762, 9820811	Standard	XM_006718938		Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	Q16549	OTTHUMG00000165640	ENST00000320934.3:c.1812C>T	11.37:g.117077851G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	Silent	SNP	pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel	p.I604	ENST00000320934.3	37	c.1812	CCDS8382.1	11																																																																																			PCSK7	-	pfam_PrprotnconvertsP,superfamily_Galactose-bd-like	ENSG00000160613		0.617	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK7	HGNC	protein_coding	OTTHUMT00000385529.2	95	0.00	0	G	NM_004716		117077851	117077851	-1	no_errors	ENST00000320934	ensembl	human	known	69_37n	silent	70	29.29	29	SNP	0.846	A
PDCD10	11235	genome.wustl.edu	37	3	167437922	167437922	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:167437922C>T	ENST00000392750.2	-	3	441	c.24G>A	c.(22-24)atG>atA	p.M8I	PDCD10_ENST00000487678.1_5'Flank|PDCD10_ENST00000471885.1_Missense_Mutation_p.M8I|PDCD10_ENST00000492396.1_Intron|PDCD10_ENST00000470131.1_Missense_Mutation_p.M8I|PDCD10_ENST00000497056.2_Missense_Mutation_p.M8I|PDCD10_ENST00000487947.2_Missense_Mutation_p.M8I|PDCD10_ENST00000473645.2_Missense_Mutation_p.M8I|PDCD10_ENST00000461494.1_Missense_Mutation_p.M8I	NM_007217.3	NP_009148.2	Q9BUL8	PDC10_HUMAN	programmed cell death 10	8					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			central_nervous_system(1)|kidney(1)|lung(8)|urinary_tract(2)	12						CTTCATTCTTCATCTCTTCCA	0.398																																						dbGAP											0													244.0	228.0	233.0					3																	167437922		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF022385	CCDS3202.1	3q26.1	2014-09-17			ENSG00000114209	ENSG00000114209			8761	protein-coding gene	gene with protein product		609118	"""cerebral cavernous malformations 3"""	CCM3		15543491	Standard	NM_007217		Approved	TFAR15	uc003fez.3	Q9BUL8	OTTHUMG00000158415	ENST00000392750.2:c.24G>A	3.37:g.167437922C>T	ENSP00000376506:p.Met8Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K515|D3DNN5|O14811	Missense_Mutation	SNP	pfam_DUF1241	p.M8I	ENST00000392750.2	37	c.24	CCDS3202.1	3	.	.	.	.	.	.	.	.	.	.	C	35	5.420001	0.96111	.	.	ENSG00000114209	ENST00000392750;ENST00000473645;ENST00000497056;ENST00000461494;ENST00000470131;ENST00000475915;ENST00000487947;ENST00000471885;ENST00000462725;ENST00000492139;ENST00000464360	T;T;T;T;T;T;T;T;T;T	0.48836	0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.83;0.8	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.47544	0.1451	L	0.27053	0.805	0.80722	D	1	P	0.35192	0.489	B	0.43274	0.414	T	0.45041	-0.9288	10	0.66056	D	0.02	-9.8503	19.0599	0.93085	0.0:1.0:0.0:0.0	.	8	Q9BUL8	PDC10_HUMAN	I	8	ENSP00000376506:M8I;ENSP00000418317:M8I;ENSP00000420553:M8I;ENSP00000420021:M8I;ENSP00000417202:M8I;ENSP00000417118:M8I;ENSP00000420266:M8I;ENSP00000417876:M8I;ENSP00000420424:M8I;ENSP00000420014:M8I	ENSP00000376506:M8I	M	-	3	0	PDCD10	168920616	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.692000	0.68256	2.941000	0.99782	0.655000	0.94253	ATG	PDCD10	-	NULL	ENSG00000114209		0.398	PDCD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCD10	HGNC	protein_coding	OTTHUMT00000350966.2	184	0.00	0	C	NM_007217		167437922	167437922	-1	no_errors	ENST00000392750	ensembl	human	known	69_37n	missense	171	15.76	32	SNP	1.000	T
PCYT1A	5130	genome.wustl.edu	37	3	195974465	195974465	+	Intron	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:195974465C>T	ENST00000292823.2	-	6	507				AC069257.8_ENST00000425275.1_RNA|PCYT1A_ENST00000491544.1_5'UTR|AC069257.8_ENST00000608995.1_RNA|PCYT1A_ENST00000431016.1_Intron|PCYT1A_ENST00000419333.1_Intron	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	phosphate cytidylyltransferase 1, choline, alpha						CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|glycogen granule (GO:0042587)	choline-phosphate cytidylyltransferase activity (GO:0004105)|lipid binding (GO:0008289)			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-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;0.00259)	Choline(DB00122)|Lamivudine(DB00709)	CCTCTCCCATCTTCTCCCACT	0.478																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			L28957	CCDS3315.1	3q29	2010-07-19	2005-09-05		ENSG00000161217	ENSG00000161217	2.7.7.15		8754	protein-coding gene	gene with protein product	"""phosphate cytidylyltransferase 1, choline, alpha isoform"""	123695	"""phosphate cytidylyltransferase 1, choline, alpha isoform"""	PCYT1		7918629	Standard	NM_005017		Approved	CT, CTPCT	uc003fwg.3	P49585	OTTHUMG00000155670	ENST00000292823.2:c.335-76G>A	3.37:g.195974465C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A9LYK9|D3DXB1|Q86Y88	Silent	SNP	pfam_Cytidylyltransf,tigrfam_Cyt_trans-rel	p.K128	ENST00000292823.2	37	c.384	CCDS3315.1	3																																																																																			PCYT1A	-	NULL	ENSG00000161217		0.478	PCYT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCYT1A	HGNC	protein_coding	OTTHUMT00000341147.1	72	0.00	0	C	NM_005017		195974465	195974465	-1	no_errors	ENST00000444822	ensembl	human	known	69_37n	silent	69	15.85	13	SNP	0.000	T
PDCD2L	84306	genome.wustl.edu	37	19	34916975	34916975	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:34916975G>A	ENST00000246535.3	+	7	1074	c.1027G>A	c.(1027-1029)Gaa>Aaa	p.E343K	PDCD2L_ENST00000587065.2_Missense_Mutation_p.E41K|UBA2_ENST00000246548.4_5'Flank|UBA2_ENST00000439527.2_5'Flank|CTD-2588C8.8_ENST00000592220.1_RNA	NM_032346.1	NP_115722.1	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like	343					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GACTCCCATGGAAGAATTTTG	0.318																																						dbGAP											0													73.0	76.0	75.0					19																	34916975		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC006146	CCDS12438.1	19q13.11	2008-02-05				ENSG00000126249			28194	protein-coding gene	gene with protein product		615661				16311922	Standard	NM_032346		Approved	MGC13096	uc002nvj.3	Q9BRP1		ENST00000246535.3:c.1027G>A	19.37:g.34916975G>A	ENSP00000246535:p.Glu343Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_PDCD2_C	p.E343K	ENST00000246535.3	37	c.1027	CCDS12438.1	19	.	.	.	.	.	.	.	.	.	.	G	20.6	4.015767	0.75161	.	.	ENSG00000126249	ENST00000246535	.	.	.	5.56	5.56	0.83823	Programmed cell death protein 2, C-terminal (1);	0.047446	0.85682	D	0.000000	T	0.77329	0.4114	M	0.76433	2.335	0.48571	D	0.999676	D	0.89917	1.0	D	0.74348	0.983	T	0.76919	-0.2781	9	0.42905	T	0.14	-21.2704	13.9745	0.64262	0.0:0.152:0.848:0.0	.	343	Q9BRP1	PDD2L_HUMAN	K	343	.	ENSP00000246535:E343K	E	+	1	0	PDCD2L	39608815	1.000000	0.71417	1.000000	0.80357	0.645000	0.38454	5.385000	0.66231	2.624000	0.88883	0.650000	0.86243	GAA	PDCD2L	-	pfam_PDCD2_C	ENSG00000126249		0.318	PDCD2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCD2L	HGNC	protein_coding	OTTHUMT00000459251.3	129	0.00	0	G	NM_032346		34916975	34916975	+1	no_errors	ENST00000246535	ensembl	human	known	69_37n	missense	80	29.20	33	SNP	1.000	A
PDCD4	27250	genome.wustl.edu	37	10	112655727	112655727	+	Frame_Shift_Del	DEL	G	G	-	rs374546633		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:112655727delG	ENST00000280154.7	+	11	1505	c.1231delG	c.(1231-1233)gaafs	p.E411fs	MIR4680_ENST00000580906.1_RNA|PDCD4_ENST00000393104.2_Frame_Shift_Del_p.E400fs	NM_001199492.1|NM_014456.4	NP_001186421.1|NP_055271.2	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)	411	MI 2. {ECO:0000255|PROSITE- ProRule:PRU00698}.				apoptotic process (GO:0006915)|cell aging (GO:0007569)|negative regulation of cell cycle (GO:0045786)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		AATTTACAATGAAATTCCGGA	0.353																																					Ovarian(115;1498 1603 9363 40056 40885)	dbGAP											0													94.0	95.0	95.0					10																	112655727		2202	4300	6502	-	-	-	SO:0001589	frameshift_variant	0			U83908	CCDS7567.1, CCDS44478.1	10q24	2008-08-01			ENSG00000150593	ENSG00000150593			8763	protein-coding gene	gene with protein product	"""nuclear antigen H731"""	608610				9759869	Standard	NM_014456		Approved	H731	uc001kzh.3	Q53EL6	OTTHUMG00000019048	ENST00000280154.7:c.1231delG	10.37:g.112655727delG	ENSP00000280154:p.Glu411fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCV4|B5ME91|O15501|Q5VZS6|Q6PJI5|Q8TAR5|Q99834	Frame_Shift_Del	DEL	pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_Initiation_fac_eIF4g_MI	p.E411fs	ENST00000280154.7	37	c.1231	CCDS7567.1	10																																																																																			PDCD4	-	pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_Initiation_fac_eIF4g_MI	ENSG00000150593		0.353	PDCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCD4	HGNC	protein_coding	OTTHUMT00000050361.1	116	0.00	0	G	NM_014456		112655727	112655727	+1	no_errors	ENST00000280154	ensembl	human	known	69_37n	frame_shift_del	39	35.48	22	DEL	1.000	-
PDCD7	10081	genome.wustl.edu	37	15	65412281	65412281	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:65412281G>A	ENST00000204549.4	-	3	1075	c.1021C>T	c.(1021-1023)Cca>Tca	p.P341S		NM_005707.1	NP_005698.1	Q8N8D1	PDCD7_HUMAN	programmed cell death 7	341					apoptotic process (GO:0006915)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of T cell apoptotic process (GO:0070234)|response to glucocorticoid (GO:0051384)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)				endometrium(4)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7						GCTGAGGCTGGAGGACAGACC	0.463																																						dbGAP											0													115.0	134.0	127.0					15																	65412281		2202	4299	6501	-	-	-	SO:0001583	missense	0			AF083930	CCDS10201.1	15q22.2	2012-06-07			ENSG00000090470	ENSG00000090470			8767	protein-coding gene	gene with protein product	"""U11/U12 snRNP 59K"""	608138				10037816	Standard	NM_005707		Approved	HES18, ES18	uc002aol.3	Q8N8D1	OTTHUMG00000133117	ENST00000204549.4:c.1021C>T	15.37:g.65412281G>A	ENSP00000204549:p.Pro341Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96AK8|Q9Y6D7	Missense_Mutation	SNP	NULL	p.P341S	ENST00000204549.4	37	c.1021	CCDS10201.1	15	.	.	.	.	.	.	.	.	.	.	G	10.17	1.276144	0.23307	.	.	ENSG00000090470	ENST00000204549;ENST00000431964;ENST00000380204	.	.	.	5.33	5.33	0.75918	.	0.352028	0.26847	N	0.022188	T	0.59142	0.2172	N	0.16368	0.405	0.44956	D	0.997979	D	0.76494	0.999	D	0.65443	0.935	T	0.51513	-0.8696	9	0.09590	T	0.72	-0.4089	19.3828	0.94543	0.0:0.0:1.0:0.0	.	341	Q8N8D1	PDCD7_HUMAN	S	341;126;135	.	ENSP00000204549:P341S	P	-	1	0	PDCD7	63199334	1.000000	0.71417	1.000000	0.80357	0.434000	0.31775	5.408000	0.66368	2.641000	0.89580	0.563000	0.77884	CCA	PDCD7	-	NULL	ENSG00000090470		0.463	PDCD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCD7	HGNC	protein_coding	OTTHUMT00000256784.2	52	0.00	0	G	NM_005707		65412281	65412281	-1	no_errors	ENST00000204549	ensembl	human	known	69_37n	missense	38	28.30	15	SNP	1.000	A
PDCL3	79031	genome.wustl.edu	37	2	101188200	101188200	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:101188200G>C	ENST00000264254.6	+	5	895	c.517G>C	c.(517-519)Gat>Cat	p.D173H		NM_024065.4	NP_076970.1	Q9H2J4	PDCL3_HUMAN	phosducin-like 3	173	Thioredoxin fold. {ECO:0000250}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|protein folding (GO:0006457)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|viral process (GO:0016032)	cytoplasm (GO:0005737)	protein binding involved in protein folding (GO:0044183)			endometrium(3)|large_intestine(2)|liver(1)|lung(6)	12						CCTGGAAGGAGATATCAAGGC	0.468																																						dbGAP											0													126.0	137.0	133.0					2																	101188200		2203	4298	6501	-	-	-	SO:0001583	missense	0			AF267853	CCDS33261.1	2q12	2008-02-05			ENSG00000115539	ENSG00000115539			28860	protein-coding gene	gene with protein product		611678					Standard	NM_024065		Approved	VIAF1	uc002tao.2	Q9H2J4	OTTHUMG00000153141	ENST00000264254.6:c.517G>C	2.37:g.101188200G>C	ENSP00000264254:p.Asp173His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RA00|Q53S68	Missense_Mutation	SNP	pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold,tigrfam_Antitoxin_Phd/YefM	p.D173H	ENST00000264254.6	37	c.517	CCDS33261.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	19.75|19.75	3.885164|3.885164	0.72410|0.72410	.|.	.|.	ENSG00000115539|ENSG00000115539	ENST00000264254|ENST00000450127	T|.	0.44881|.	0.91|.	4.89|4.89	3.97|3.97	0.46021|0.46021	Phosducin, thioredoxin-like domain (1);Thioredoxin-like fold (2);|.	0.156147|.	0.64402|.	D|.	0.000020|.	T|T	0.75874|0.75874	0.3909|0.3909	M|M	0.81942|0.81942	2.565|2.565	0.51482|0.51482	D|D	0.999928|0.999928	D|.	0.60160|.	0.987|.	P|.	0.61800|.	0.894|.	T|T	0.78097|0.78097	-0.2337|-0.2337	10|5	0.72032|.	D|.	0.01|.	-25.8385|-25.8385	15.1165|15.1165	0.72407|0.72407	0.0:0.1425:0.8575:0.0|0.0:0.1425:0.8575:0.0	.|.	173|.	Q9H2J4|.	PDCL3_HUMAN|.	H|D	173|120	ENSP00000264254:D173H|.	ENSP00000264254:D173H|.	D|E	+|+	1|3	0|2	PDCL3|PDCL3	100554632|100554632	1.000000|1.000000	0.71417|0.71417	0.558000|0.558000	0.28319|0.28319	0.938000|0.938000	0.57974|0.57974	7.935000|7.935000	0.87658|0.87658	1.130000|1.130000	0.42092|0.42092	0.650000|0.650000	0.86243|0.86243	GAT|GAG	PDCL3	-	pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold	ENSG00000115539		0.468	PDCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCL3	HGNC	protein_coding	OTTHUMT00000329734.1	97	0.00	0	G	NM_024065		101188200	101188200	+1	no_errors	ENST00000264254	ensembl	human	known	69_37n	missense	97	17.80	21	SNP	0.999	C
PDE10A	10846	genome.wustl.edu	37	6	165957003	165957003	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:165957003C>T	ENST00000366882.1	-	3	245	c.91G>A	c.(91-93)Gat>Aat	p.D31N	PDE10A_ENST00000539869.2_Missense_Mutation_p.D41N|PDE10A_ENST00000354448.4_Missense_Mutation_p.D31N			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	31					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	ACAAATTCATCTAATACCTGG	0.363																																					Esophageal Squamous(22;308 615 5753 12038 40624)	dbGAP											0													146.0	138.0	141.0					6																	165957003		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.91G>A	6.37:g.165957003C>T	ENSP00000355847:p.Asp31Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.D41N	ENST00000366882.1	37	c.121		6	.	.	.	.	.	.	.	.	.	.	C	36	5.758804	0.96898	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.75704	-0.96;-0.96	5.59	5.59	0.84812	.	0.053329	0.64402	D	0.000001	T	0.81936	0.4928	L	0.59436	1.845	0.58432	D	0.999999	D;D	0.63880	0.993;0.959	D;B	0.70935	0.971;0.425	T	0.81797	-0.0768	10	0.59425	D	0.04	.	18.9419	0.92608	0.0:1.0:0.0:0.0	.	41;31	Q9ULW9;Q9Y233	.;PDE10_HUMAN	N	31;59;41;31;30	ENSP00000355847:D31N;ENSP00000346435:D31N	ENSP00000341187:D41N	D	-	1	0	PDE10A	165876993	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.822000	0.75277	2.788000	0.95919	0.585000	0.79938	GAT	PDE10A	-	NULL	ENSG00000112541		0.363	PDE10A-001	PUTATIVE	basic	protein_coding	PDE10A	HGNC	protein_coding	OTTHUMT00000043031.1	152	0.00	0	C			165957003	165957003	-1	no_errors	ENST00000539869	ensembl	human	known	69_37n	missense	130	18.24	29	SNP	1.000	T
PDE10A	10846	genome.wustl.edu	37	6	166075457	166075457	+	5'UTR	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:166075457C>T	ENST00000366882.1	-	0	131				PDE10A_ENST00000539869.2_Silent_p.L15L			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A						blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	AGCACTCGGTCAGCCTTCGGA	0.687																																					Esophageal Squamous(22;308 615 5753 12038 40624)	dbGAP											0													29.0	29.0	29.0					6																	166075457		1514	3505	5019	-	-	-	SO:0001623	5_prime_UTR_variant	0			AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.-24G>A	6.37:g.166075457C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Silent	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.L15	ENST00000366882.1	37	c.45		6																																																																																			PDE10A	-	NULL	ENSG00000112541		0.687	PDE10A-001	PUTATIVE	basic	protein_coding	PDE10A	HGNC	protein_coding	OTTHUMT00000043031.1	21	0.00	0	C			166075457	166075457	-1	no_errors	ENST00000539869	ensembl	human	known	69_37n	silent	17	32.00	8	SNP	0.946	T
PDE3A	5139	genome.wustl.edu	37	12	20787910	20787910	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:20787910G>A	ENST00000359062.3	+	8	1961	c.1921G>A	c.(1921-1923)Gat>Aat	p.D641N	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	641					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	ACAGAATGAAGATGAAACAGA	0.418																																						dbGAP											0													151.0	130.0	137.0					12																	20787910		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.1921G>A	12.37:g.20787910G>A	ENSP00000351957:p.Asp641Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O60865|Q13348|Q17RD1	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom	p.D641N	ENST00000359062.3	37	c.1921	CCDS31754.1	12	.	.	.	.	.	.	.	.	.	.	G	19.44	3.828894	0.71258	.	.	ENSG00000172572	ENST00000359062	T	0.63744	-0.06	5.64	5.64	0.86602	.	3.463580	0.01184	N	0.007141	T	0.61311	0.2337	L	0.38175	1.15	0.48452	D	0.999657	P	0.36616	0.561	B	0.29942	0.109	T	0.52939	-0.8508	10	0.56958	D	0.05	.	19.313	0.94199	0.0:0.0:1.0:0.0	.	641	Q14432	PDE3A_HUMAN	N	641	ENSP00000351957:D641N	ENSP00000351957:D641N	D	+	1	0	PDE3A	20679177	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	8.954000	0.93051	2.669000	0.90835	0.650000	0.86243	GAT	PDE3A	-	NULL	ENSG00000172572		0.418	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE3A	HGNC	protein_coding	OTTHUMT00000401756.2	109	0.00	0	G			20787910	20787910	+1	no_errors	ENST00000359062	ensembl	human	known	69_37n	missense	50	35.06	27	SNP	1.000	A
PDE3A	5139	genome.wustl.edu	37	12	20807049	20807049	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:20807049G>T	ENST00000359062.3	+	15	3134	c.3094G>T	c.(3094-3096)Gag>Tag	p.E1032*	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	1032	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	AGACAGCGATGAGTCAGGAGA	0.458																																						dbGAP											0													130.0	128.0	128.0					12																	20807049		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.3094G>T	12.37:g.20807049G>T	ENSP00000351957:p.Glu1032*	Somatic		WXS	Illumina GAIIx	Phase_IV	O60865|Q13348|Q17RD1	Nonsense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom	p.E1032*	ENST00000359062.3	37	c.3094	CCDS31754.1	12	.	.	.	.	.	.	.	.	.	.	G	41	8.901882	0.98996	.	.	ENSG00000172572	ENST00000359062	.	.	.	5.31	5.31	0.75309	.	0.607362	0.18626	N	0.135718	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	19.3412	0.94342	0.0:0.0:1.0:0.0	.	.	.	.	X	1032	.	ENSP00000351957:E1032X	E	+	1	0	PDE3A	20698316	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.406000	0.59748	2.657000	0.90304	0.655000	0.94253	GAG	PDE3A	-	NULL	ENSG00000172572		0.458	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE3A	HGNC	protein_coding	OTTHUMT00000401756.2	97	0.00	0	G			20807049	20807049	+1	no_errors	ENST00000359062	ensembl	human	known	69_37n	nonsense	43	45.57	36	SNP	0.993	T
PDE4B	5142	genome.wustl.edu	37	1	66798131	66798131	+	Intron	SNP	C	C	G	rs375930120		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:66798131C>G	ENST00000329654.4	+	8	821				PDE4B_ENST00000371045.5_Missense_Mutation_p.S20C|PDE4B_ENST00000371049.3_Intron|PDE4B_ENST00000423207.2_Intron	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific						cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|leukocyte migration (GO:0050900)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|neutrophil homeostasis (GO:0001780)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of high voltage-gated calcium channel activity (GO:1901841)|T cell receptor signaling pathway (GO:0050852)	cell periphery (GO:0071944)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theobromine(DB01412)|Theophylline(DB00277)	AGCGGTGACTCTGCTATGGAC	0.527																																						dbGAP											0													92.0	93.0	92.0					1																	66798131		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			L20971	CCDS632.1, CCDS30742.1, CCDS30743.1, CCDS72802.1	1p31	2010-06-24	2010-06-24		ENSG00000184588	ENSG00000184588		"""Phosphodiesterases"""	8781	protein-coding gene	gene with protein product	"""phosphodiesterase E4 dunce homolog (Drosophila)"""	600127	"""phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4)"", ""phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)"""	DPDE4			Standard	XM_005270925		Approved		uc001dco.3	Q07343	OTTHUMG00000009088	ENST00000329654.4:c.635-60C>G	1.37:g.66798131C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.S20C	ENST00000329654.4	37	c.59	CCDS632.1	1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.631813	0.46944	.	.	ENSG00000184588	ENST00000371045	T	0.65732	-0.17	4.97	4.06	0.47325	.	.	.	.	.	T	0.38639	0.1048	L	0.29908	0.895	0.32022	N	0.600627	B	0.27229	0.172	B	0.30179	0.112	T	0.35325	-0.9793	9	0.56958	D	0.05	.	17.6146	0.88064	0.0:0.8736:0.1264:0.0	.	62	Q13945	.	C	20	ENSP00000360084:S20C	ENSP00000360084:S20C	S	+	2	0	PDE4B	66570719	0.007000	0.16637	0.532000	0.27989	0.878000	0.50629	2.175000	0.42491	0.819000	0.34492	-1.268000	0.01426	TCT	PDE4B	-	NULL	ENSG00000184588		0.527	PDE4B-001	KNOWN	basic|CCDS	protein_coding	PDE4B	HGNC	protein_coding	OTTHUMT00000025188.3	88	0.00	0	C	NM_002600		66798131	66798131	+1	no_errors	ENST00000371045	ensembl	human	known	69_37n	missense	55	17.91	12	SNP	0.240	G
PDE4B	5142	genome.wustl.edu	37	1	66838181	66838181	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:66838181G>C	ENST00000329654.4	+	17	2218	c.2031G>C	c.(2029-2031)aaG>aaC	p.K677N	PDE4B_ENST00000371045.5_Missense_Mutation_p.K505N|PDE4B_ENST00000371049.3_Missense_Mutation_p.K677N|PDE4B_ENST00000423207.2_Missense_Mutation_p.K662N|PDE4B_ENST00000480109.2_Missense_Mutation_p.K444N	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	677					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|leukocyte migration (GO:0050900)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|neutrophil homeostasis (GO:0001780)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of high voltage-gated calcium channel activity (GO:1901841)|T cell receptor signaling pathway (GO:0050852)	cell periphery (GO:0071944)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theobromine(DB01412)|Theophylline(DB00277)	TGATGGAGAAGTTTCAGTTTG	0.493																																						dbGAP											0													77.0	74.0	75.0					1																	66838181		2203	4300	6503	-	-	-	SO:0001583	missense	0			L20971	CCDS632.1, CCDS30742.1, CCDS30743.1, CCDS72802.1	1p31	2010-06-24	2010-06-24		ENSG00000184588	ENSG00000184588		"""Phosphodiesterases"""	8781	protein-coding gene	gene with protein product	"""phosphodiesterase E4 dunce homolog (Drosophila)"""	600127	"""phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4)"", ""phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)"""	DPDE4			Standard	XM_005270925		Approved		uc001dco.3	Q07343	OTTHUMG00000009088	ENST00000329654.4:c.2031G>C	1.37:g.66838181G>C	ENSP00000332116:p.Lys677Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.K677N	ENST00000329654.4	37	c.2031	CCDS632.1	1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.935572	0.73442	.	.	ENSG00000184588	ENST00000329654;ENST00000341517;ENST00000371049;ENST00000423207;ENST00000371045;ENST00000480109	T;T;T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5;-0.5;-0.5	5.14	4.23	0.50019	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.000000	0.64402	D	0.000002	T	0.79329	0.4427	M	0.77616	2.38	0.58432	D	0.999999	D;D;D;D;D	0.89917	0.982;1.0;0.999;0.999;0.999	P;D;D;D;D	0.73708	0.852;0.981;0.942;0.957;0.927	T	0.83198	-0.0080	10	0.87932	D	0	.	13.6269	0.62170	0.0757:0.0:0.9243:0.0	.	444;662;547;667;677	A5YW33;Q07343-3;Q13945;Q59GM8;Q07343	.;.;.;.;PDE4B_HUMAN	N	677;677;677;662;505;444	ENSP00000332116:K677N;ENSP00000342637:K677N;ENSP00000360088:K677N;ENSP00000392947:K662N;ENSP00000360084:K505N;ENSP00000432592:K444N	ENSP00000332116:K677N	K	+	3	2	PDE4B	66610769	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.302000	0.43637	1.518000	0.48934	0.655000	0.94253	AAG	PDE4B	-	NULL	ENSG00000184588		0.493	PDE4B-001	KNOWN	basic|CCDS	protein_coding	PDE4B	HGNC	protein_coding	OTTHUMT00000025188.3	53	0.00	0	G	NM_002600		66838181	66838181	+1	no_errors	ENST00000329654	ensembl	human	known	69_37n	missense	28	30.00	12	SNP	1.000	C
PDE4DIP	9659	genome.wustl.edu	37	1	144873981	144873981	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:144873981G>T	ENST00000369354.3	-	31	5165	c.4976C>A	c.(4975-4977)tCa>tAa	p.S1659*	PDE4DIP_ENST00000369359.4_Nonsense_Mutation_p.S1795*|PDE4DIP_ENST00000369356.4_Nonsense_Mutation_p.S1659*|RP4-791M13.5_ENST00000531288.1_RNA|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Nonsense_Mutation_p.S1615*			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1659					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ACTGGTTGATGATGGTTTAGA	0.473			T	PDGFRB	MPD																																	dbGAP		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													419.0	425.0	423.0					1																	144873981		2203	4297	6500	-	-	-	SO:0001587	stop_gained	0			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.4976C>A	1.37:g.144873981G>T	ENSP00000358360:p.Ser1659*	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Nonsense_Mutation	SNP	pfam_Spindle_assoc,superfamily_ARM-type_fold	p.S1659*	ENST00000369354.3	37	c.4976	CCDS30824.1	1	.	.	.	.	.	.	.	.	.	.	G	46	12.962675	0.99709	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369359	.	.	.	5.27	4.36	0.52297	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	11.8752	0.52544	0.0:0.175:0.825:0.0	.	.	.	.	X	1615;1659;1659;1795	.	ENSP00000327209:S1615X	S	-	2	0	PDE4DIP	143585338	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	4.816000	0.62642	1.438000	0.47492	0.650000	0.86243	TCA	PDE4DIP	-	NULL	ENSG00000178104		0.473	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	PDE4DIP	HGNC	protein_coding	OTTHUMT00000038858.2	179	0.00	0	G	NM_022359		144873981	144873981	-1	no_errors	ENST00000369356	ensembl	human	known	69_37n	nonsense	149	23.98	47	SNP	0.991	T
PDE4DIP	9659	genome.wustl.edu	37	1	144874746	144874746	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:144874746G>C	ENST00000369354.3	-	30	5051	c.4862C>G	c.(4861-4863)tCt>tGt	p.S1621C	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.S1757C|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S1621C|AL138796.1_ENST00000582173.1_RNA|RP4-791M13.5_ENST00000531288.1_RNA|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S1757C|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S1577C			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1621	NBPF. {ECO:0000255|PROSITE- ProRule:PRU00647}.				cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GTCCATGTCAGAGCAGGCTTC	0.542			T	PDGFRB	MPD																																	dbGAP		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													314.0	299.0	304.0					1																	144874746		2203	4296	6499	-	-	-	SO:0001583	missense	0			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.4862C>G	1.37:g.144874746G>C	ENSP00000358360:p.Ser1621Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	pfam_Spindle_assoc,superfamily_ARM-type_fold	p.S1621C	ENST00000369354.3	37	c.4862	CCDS30824.1	1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224232	0.79576	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.02301	4.35;4.53;4.52;4.43;4.5	5.91	5.0	0.66597	DUF1220 (1);	.	.	.	.	T	0.06096	0.0158	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	T	0.05649	-1.0872	9	0.87932	D	0	.	13.0743	0.59079	0.0778:0.0:0.9222:0.0	.	1577;1621	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	C	1577;1621;1621;1757;1757	ENSP00000327209:S1577C;ENSP00000358360:S1621C;ENSP00000358363:S1621C;ENSP00000435654:S1757C;ENSP00000358366:S1757C	ENSP00000327209:S1577C	S	-	2	0	PDE4DIP	143586103	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.169000	0.94788	1.509000	0.48786	0.650000	0.86243	TCT	PDE4DIP	-	NULL	ENSG00000178104		0.542	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	PDE4DIP	HGNC	protein_coding	OTTHUMT00000038858.2	197	0.00	0	G	NM_022359		144874746	144874746	-1	no_errors	ENST00000369356	ensembl	human	known	69_37n	missense	192	24.71	63	SNP	1.000	C
PDE4DIP	9659	genome.wustl.edu	37	1	144877067	144877067	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:144877067C>G	ENST00000369354.3	-	28	4809	c.4620G>C	c.(4618-4620)ctG>ctC	p.L1540L	PDE4DIP_ENST00000369359.4_Silent_p.L1676L|PDE4DIP_ENST00000369356.4_Silent_p.L1540L|AL138796.1_ENST00000582173.1_RNA|RP4-791M13.5_ENST00000531288.1_RNA|PDE4DIP_ENST00000530740.1_Silent_p.L1676L|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Silent_p.L1496L			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1540					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GCCTCTCTGTCAGCTGGCTTC	0.537			T	PDGFRB	MPD																																	dbGAP		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													28.0	29.0	28.0					1																	144877067		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.4620G>C	1.37:g.144877067C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	pfam_Spindle_assoc,superfamily_ARM-type_fold	p.L1540	ENST00000369354.3	37	c.4620	CCDS30824.1	1																																																																																			PDE4DIP	-	NULL	ENSG00000178104		0.537	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	PDE4DIP	HGNC	protein_coding	OTTHUMT00000038858.2	132	0.00	0	C	NM_022359		144877067	144877067	-1	no_errors	ENST00000369356	ensembl	human	known	69_37n	silent	103	14.17	17	SNP	0.998	G
PDE4DIP	9659	genome.wustl.edu	37	1	144922617	144922617	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:144922617C>T	ENST00000369354.3	-	7	979	c.790G>A	c.(790-792)Gaa>Aaa	p.E264K	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.E401K|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.E264K|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.E427K|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.E427K|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.E401K|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.E264K|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.E51K|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.E264K|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.E330K			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	264					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TAGCTCATTTCATTAAGTTTC	0.373			T	PDGFRB	MPD																																	dbGAP		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													237.0	251.0	246.0					1																	144922617		2203	4297	6500	-	-	-	SO:0001583	missense	0			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.790G>A	1.37:g.144922617C>T	ENSP00000358360:p.Glu264Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	pfam_Spindle_assoc,superfamily_ARM-type_fold	p.E264K	ENST00000369354.3	37	c.790	CCDS30824.1	1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.559191	0.65538	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369353;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000313431;ENST00000529945;ENST00000479408	T;T;T;T;T;T;T;T;T;T	0.16743	4.12;4.1;4.11;4.17;4.16;3.14;3.16;2.39;2.4;2.32	6.06	6.06	0.98353	.	.	.	.	.	T	0.22820	0.0551	L	0.50333	1.59	0.80722	D	1	D;P;P;D;P	0.61697	0.972;0.787;0.853;0.99;0.77	P;B;P;P;B	0.59288	0.737;0.359;0.547;0.855;0.285	T	0.00221	-1.1905	9	0.72032	D	0.01	.	13.6853	0.62513	0.0:0.8455:0.1544:0.0	.	427;264;427;330;264	E9PL24;Q5VU43-7;Q5VU43-2;Q5VU43-3;Q5VU43	.;.;.;.;MYOME_HUMAN	K	330;264;264;427;401;401;264;264;427;427;51	ENSP00000327209:E330K;ENSP00000358360:E264K;ENSP00000358363:E264K;ENSP00000435654:E401K;ENSP00000358366:E401K;ENSP00000358357:E264K;ENSP00000358355:E264K;ENSP00000316434:E427K;ENSP00000433392:E427K;ENSP00000436791:E51K	ENSP00000327209:E330K	E	-	1	0	PDE4DIP	143633974	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.134000	0.64770	2.880000	0.98712	0.650000	0.86243	GAA	PDE4DIP	-	NULL	ENSG00000178104		0.373	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	PDE4DIP	HGNC	protein_coding	OTTHUMT00000038858.2	184	0.00	0	C	NM_022359		144922617	144922617	-1	no_errors	ENST00000369356	ensembl	human	known	69_37n	missense	172	11.79	23	SNP	1.000	T
PDE4DIP	9659	genome.wustl.edu	37	1	144955253	144955253	+	Missense_Mutation	SNP	C	C	G	rs200292567		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:144955253C>G	ENST00000369354.3	-	2	370	c.181G>C	c.(181-183)Gaa>Caa	p.E61Q	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.E198Q|PDE4DIP_ENST00000369348.3_Missense_Mutation_p.E198Q|PDE4DIP_ENST00000369347.4_Missense_Mutation_p.E61Q|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.E61Q|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.E198Q|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.E61Q|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.E61Q|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.E127Q			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	61					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCCTGGAGTTCTCGTTTCAAG	0.413			T	PDGFRB	MPD																																	dbGAP		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													70.0	68.0	69.0					1																	144955253		2202	4300	6502	-	-	-	SO:0001583	missense	0			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.181G>C	1.37:g.144955253C>G	ENSP00000358360:p.Glu61Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	pfam_Spindle_assoc,superfamily_ARM-type_fold	p.E61Q	ENST00000369354.3	37	c.181	CCDS30824.1	1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.243961	0.79912	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000530078;ENST00000534536;ENST00000369347;ENST00000369348;ENST00000531369	T;T;T;T;T;T;T;T;T;T;T	0.77620	1.82;1.82;1.82;1.82;1.82;1.82;1.82;1.82;1.82;1.82;-1.11	4.7	4.7	0.59300	Spindle associated (1);	.	.	.	.	D	0.87152	0.6106	M	0.85859	2.78	0.80722	D	1	D;D;D	0.89917	1.0;0.994;1.0	D;D;D	0.91635	0.997;0.96;0.999	D	0.89107	0.3493	9	0.87932	D	0	.	15.1755	0.72907	0.0:1.0:0.0:0.0	.	61;127;61	Q5VU43-7;Q5VU43-3;Q5VU43	.;.;MYOME_HUMAN	Q	127;61;61;198;198;61;61;127;64;61;198;128	ENSP00000327209:E127Q;ENSP00000358360:E61Q;ENSP00000358363:E61Q;ENSP00000435654:E198Q;ENSP00000358366:E198Q;ENSP00000358357:E61Q;ENSP00000358355:E61Q;ENSP00000435920:E64Q;ENSP00000358353:E61Q;ENSP00000358354:E198Q;ENSP00000435616:E128Q	ENSP00000327209:E127Q	E	-	1	0	PDE4DIP	143666610	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.318000	0.72866	2.443000	0.82685	0.484000	0.47621	GAA	PDE4DIP	-	pfam_Spindle_assoc	ENSG00000178104		0.413	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	PDE4DIP	HGNC	protein_coding	OTTHUMT00000038858.2	262	0.00	0	C	NM_022359		144955253	144955253	-1	no_errors	ENST00000369356	ensembl	human	known	69_37n	missense	248	18.89	58	SNP	1.000	G
PDE5A	8654	genome.wustl.edu	37	4	120528133	120528133	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:120528133C>A	ENST00000354960.3	-	2	791	c.472G>T	c.(472-474)Gat>Tat	p.D158Y	PDE5A_ENST00000264805.5_Missense_Mutation_p.D116Y|PDE5A_ENST00000394439.1_Missense_Mutation_p.D106Y	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	158					blood coagulation (GO:0007596)|cGMP catabolic process (GO:0046069)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of oocyte development (GO:0060282)|relaxation of cardiac muscle (GO:0055119)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862)	CTAGAAATATCCTTCACTAAT	0.438																																						dbGAP											0													124.0	119.0	121.0					4																	120528133		2203	4300	6503	-	-	-	SO:0001583	missense	0			D89094	CCDS3713.1, CCDS34055.1	4q27	2008-05-15			ENSG00000138735	ENSG00000138735	3.1.4.17	"""Phosphodiesterases"""	8784	protein-coding gene	gene with protein product		603310				9714779, 9642111	Standard	NM_033437		Approved		uc003idh.3	O76074	OTTHUMG00000132971	ENST00000354960.3:c.472G>T	4.37:g.120528133C>A	ENSP00000347046:p.Asp158Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.D158Y	ENST00000354960.3	37	c.472	CCDS3713.1	4	.	.	.	.	.	.	.	.	.	.	C	18.74	3.689558	0.68271	.	.	ENSG00000138735	ENST00000354960;ENST00000394439;ENST00000264805;ENST00000420633	T;T;T;T	0.08896	3.04;3.04;3.04;3.04	5.64	4.8	0.61643	.	0.773939	0.11885	N	0.520130	T	0.18509	0.0444	M	0.73217	2.22	0.80722	D	1	D;P	0.56521	0.976;0.911	P;P	0.47981	0.556;0.563	T	0.01879	-1.1255	10	0.54805	T	0.06	.	14.5739	0.68232	0.0:0.9299:0.0:0.0701	.	158;116	O76074;O76074-2	PDE5A_HUMAN;.	Y	158;106;116;106	ENSP00000347046:D158Y;ENSP00000377957:D106Y;ENSP00000264805:D116Y;ENSP00000416309:D106Y	ENSP00000264805:D116Y	D	-	1	0	PDE5A	120747581	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	6.050000	0.71063	1.387000	0.46486	0.655000	0.94253	GAT	PDE5A	-	NULL	ENSG00000138735		0.438	PDE5A-001	KNOWN	basic|CCDS	protein_coding	PDE5A	HGNC	protein_coding	OTTHUMT00000256529.1	75	0.00	0	C	NM_001083		120528133	120528133	-1	no_errors	ENST00000354960	ensembl	human	known	69_37n	missense	49	28.99	20	SNP	1.000	A
PDE6A	5145	genome.wustl.edu	37	5	149247712	149247712	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:149247712C>T	ENST00000255266.5	-	18	2264	c.2145G>A	c.(2143-2145)atG>atA	p.M715I		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	715					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)	AGGCGGTCATCATCATGGCCC	0.552																																						dbGAP											0													128.0	110.0	116.0					5																	149247712		2203	4300	6503	-	-	-	SO:0001583	missense	0				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.2145G>A	5.37:g.149247712C>T	ENSP00000255266:p.Met715Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0P638	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.M715I	ENST00000255266.5	37	c.2145	CCDS4299.1	5	.	.	.	.	.	.	.	.	.	.	C	27.0	4.791565	0.90367	.	.	ENSG00000132915	ENST00000255266	T	0.79352	-1.26	5.32	5.32	0.75619	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.089550	0.85682	D	0.000000	T	0.74779	0.3761	L	0.35341	1.055	0.80722	D	1	B	0.22604	0.072	B	0.36186	0.219	T	0.71974	-0.4430	10	0.51188	T	0.08	.	16.8707	0.86040	0.0:1.0:0.0:0.0	.	715	P16499	PDE6A_HUMAN	I	715	ENSP00000255266:M715I	ENSP00000255266:M715I	M	-	3	0	PDE6A	149227905	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.137000	0.77295	2.655000	0.90218	0.462000	0.41574	ATG	PDE6A	-	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom	ENSG00000132915		0.552	PDE6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE6A	HGNC	protein_coding	OTTHUMT00000252326.2	66	0.00	0	C			149247712	149247712	-1	no_errors	ENST00000255266	ensembl	human	known	69_37n	missense	65	22.62	19	SNP	1.000	T
PDE6A	5145	genome.wustl.edu	37	5	149323885	149323885	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:149323885C>G	ENST00000255266.5	-	1	471	c.352G>C	c.(352-354)Gat>Cat	p.D118H		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	118	GAF 1.				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)	AGGACAGCATCCTTGTGGACA	0.577																																						dbGAP											0													100.0	94.0	96.0					5																	149323885		2203	4300	6503	-	-	-	SO:0001583	missense	0				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.352G>C	5.37:g.149323885C>G	ENSP00000255266:p.Asp118His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0P638	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.D118H	ENST00000255266.5	37	c.352	CCDS4299.1	5	.	.	.	.	.	.	.	.	.	.	C	12.24	1.878952	0.33162	.	.	ENSG00000132915	ENST00000255266	T	0.69685	-0.42	5.56	4.7	0.59300	GAF (2);	0.052329	0.64402	D	0.000001	T	0.68650	0.3024	M	0.85299	2.745	0.48632	D	0.999684	B	0.15719	0.014	B	0.24394	0.053	T	0.68078	-0.5504	10	0.54805	T	0.06	.	8.657	0.34068	0.0:0.8276:0.0:0.1724	.	118	P16499	PDE6A_HUMAN	H	118	ENSP00000255266:D118H	ENSP00000255266:D118H	D	-	1	0	PDE6A	149304078	0.998000	0.40836	0.999000	0.59377	0.382000	0.30200	4.068000	0.57534	1.352000	0.45808	0.561000	0.74099	GAT	PDE6A	-	pfam_GAF,smart_GAF	ENSG00000132915		0.577	PDE6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE6A	HGNC	protein_coding	OTTHUMT00000252326.2	52	0.00	0	C			149323885	149323885	-1	no_errors	ENST00000255266	ensembl	human	known	69_37n	missense	47	26.56	17	SNP	1.000	G
PDGFRA	5156	genome.wustl.edu	37	4	55156552	55156552	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:55156552G>A	ENST00000257290.5	+	22	3284	c.2953G>A	c.(2953-2955)Gac>Aac	p.D985N	FIP1L1_ENST00000507166.1_Missense_Mutation_p.D745N	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	985					adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	TGTGGACTCAGACAATGCATA	0.458			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	dbGAP		Dom	yes		4	4q11-q13	5156	"""platelet-derived growth factor, alpha-receptor"""		"""L, M, O"""	0													164.0	141.0	149.0					4																	55156552		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.2953G>A	4.37:g.55156552G>A	ENSP00000257290:p.Asp985Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR_rcpt_N	p.D985N	ENST00000257290.5	37	c.2953	CCDS3495.1	4	.	.	.	.	.	.	.	.	.	.	G	13.96	2.393975	0.42410	.	.	ENSG00000145216;ENSG00000134853	ENST00000507166;ENST00000257290	T;T	0.78707	-1.2;-1.01	5.77	5.77	0.91146	.	0.000000	0.33327	U	0.005028	T	0.72479	0.3465	L	0.47716	1.5	0.80722	D	1	P	0.47191	0.891	B	0.40066	0.318	T	0.69401	-0.5155	10	0.14656	T	0.56	.	19.9922	0.97370	0.0:0.0:1.0:0.0	.	985	P16234	PGFRA_HUMAN	N	745;985	ENSP00000423325:D745N;ENSP00000257290:D985N	ENSP00000423325:D745N	D	+	1	0	FIP1L1;PDGFRA	54851309	1.000000	0.71417	0.352000	0.25734	0.047000	0.14425	9.363000	0.97131	2.740000	0.93945	0.557000	0.71058	GAC	PDGFRA	-	pirsf_Tyr_kinase_CSF1/PDGF_rcpt	ENSG00000134853		0.458	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDGFRA	HGNC	protein_coding	OTTHUMT00000250598.2	66	0.00	0	G	NM_006206		55156552	55156552	+1	no_errors	ENST00000257290	ensembl	human	known	69_37n	missense	71	21.11	19	SNP	1.000	A
PDIA5	10954	genome.wustl.edu	37	3	122808040	122808040	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:122808040C>T	ENST00000316218.7	+	2	163	c.68C>T	c.(67-69)tCt>tTt	p.S23F		NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	23					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	oxidoreductase activity (GO:0016491)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		TGGCTGTCCTCTGCAAAGGTC	0.522																																						dbGAP											0													96.0	89.0	91.0					3																	122808040		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK054963	CCDS3020.1	3q21.1	2009-11-20	2005-06-29		ENSG00000065485	ENSG00000065485	5.3.4.1	"""Protein disulfide isomerases"""	24811	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 5"""			7556671	Standard	NM_006810		Approved	PDIR, FLJ30401	uc003egc.2	Q14554	OTTHUMG00000159558	ENST00000316218.7:c.68C>T	3.37:g.122808040C>T	ENSP00000323313:p.Ser23Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DN95|Q9BV43	Missense_Mutation	SNP	pfam_Thioredoxin_domain,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,prints_Thioredoxin	p.S23F	ENST00000316218.7	37	c.68	CCDS3020.1	3	.	.	.	.	.	.	.	.	.	.	C	13.36	2.214640	0.39102	.	.	ENSG00000065485	ENST00000316218	T	0.04275	3.66	5.13	4.25	0.50352	.	0.310933	0.35739	N	0.003013	T	0.07683	0.0193	L	0.44542	1.39	0.35222	D	0.776125	D	0.54207	0.965	P	0.47206	0.541	T	0.24728	-1.0152	10	0.62326	D	0.03	.	11.8578	0.52449	0.0:0.8244:0.1756:0.0	.	23	Q14554	PDIA5_HUMAN	F	23	ENSP00000323313:S23F	ENSP00000323313:S23F	S	+	2	0	PDIA5	124290730	0.997000	0.39634	0.951000	0.38953	0.067000	0.16453	3.999000	0.57031	1.511000	0.48818	0.655000	0.94253	TCT	PDIA5	-	NULL	ENSG00000065485		0.522	PDIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDIA5	HGNC	protein_coding	OTTHUMT00000356192.1	75	0.00	0	C	NM_006810		122808040	122808040	+1	no_errors	ENST00000316218	ensembl	human	known	69_37n	missense	76	30.63	34	SNP	0.971	T
PDLIM7	9260	genome.wustl.edu	37	5	176910978	176910978	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:176910978C>G	ENST00000355841.2	-	12	1243	c.1177G>C	c.(1177-1179)Gag>Cag	p.E393Q	PDLIM7_ENST00000505746.1_5'UTR|PDLIM7_ENST00000356618.4_3'UTR|PDLIM7_ENST00000359895.2_Missense_Mutation_p.E359Q	NM_005451.3	NP_005442.2	Q9NR12	PDLI7_HUMAN	PDZ and LIM domain 7 (enigma)	393	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of osteoblast differentiation (GO:0045669)|receptor-mediated endocytosis (GO:0006898)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ruffle (GO:0001726)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	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)			AACATCTTCTCATAGTCTGAG	0.582																																						dbGAP											0													67.0	68.0	68.0					5																	176910978		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC001093	CCDS4422.1, CCDS4423.1, CCDS4424.1	5q35.3	2008-02-05			ENSG00000196923	ENSG00000196923			22958	protein-coding gene	gene with protein product		605903				11874232	Standard	NM_005451		Approved	ENIGMA	uc003mhc.1	Q9NR12	OTTHUMG00000130853	ENST00000355841.2:c.1177G>C	5.37:g.176910978C>G	ENSP00000348099:p.Glu393Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14250|Q5XG82|Q6NVZ5|Q96C91|Q9BXB8|Q9BXB9	Missense_Mutation	SNP	pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ	p.E393Q	ENST00000355841.2	37	c.1177	CCDS4422.1	5	.	.	.	.	.	.	.	.	.	.	C	21.1	4.103057	0.76983	.	.	ENSG00000196923	ENST00000359895;ENST00000355841	D;D	0.87256	-2.23;-2.23	5.72	4.8	0.61643	Zinc finger, LIM-type (3);	0.000000	0.64402	D	0.000004	D	0.88731	0.6516	L	0.31578	0.945	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.985;0.988	D	0.87268	0.2284	10	0.36615	T	0.2	.	14.4933	0.67667	0.1477:0.8523:0.0:0.0	.	393;359	Q9NR12;Q9NR12-2	PDLI7_HUMAN;.	Q	359;393	ENSP00000352964:E359Q;ENSP00000348099:E393Q	ENSP00000348099:E393Q	E	-	1	0	PDLIM7	176843584	0.999000	0.42202	0.999000	0.59377	0.791000	0.44710	3.049000	0.49869	2.722000	0.93159	0.555000	0.69702	GAG	PDLIM7	-	pfam_Znf_LIM,pfscan_Znf_LIM	ENSG00000196923		0.582	PDLIM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDLIM7	HGNC	protein_coding	OTTHUMT00000253423.1	49	0.00	0	C	NM_005451		176910978	176910978	-1	no_errors	ENST00000355841	ensembl	human	known	69_37n	missense	45	28.57	18	SNP	1.000	G
PDPK1	5170	genome.wustl.edu	37	16	2636865	2636865	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:2636865G>A	ENST00000342085.4	+	11	1463	c.1314G>A	c.(1312-1314)ttG>ttA	p.L438L	PDPK1_ENST00000268673.7_Silent_p.L311L|PDPK1_ENST00000441549.3_Silent_p.L438L|PDPK1_ENST00000389224.3_Silent_p.L411L|PDPK1_ENST00000354836.5_Silent_p.L414L	NM_002613.4	NP_002604.1	O15530	PDPK1_HUMAN	3-phosphoinositide dependent protein kinase 1	438					actin cytoskeleton organization (GO:0030036)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway (GO:0097191)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|focal adhesion assembly (GO:0048041)|hyperosmotic response (GO:0006972)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of endothelial cell migration (GO:0010594)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of mast cell degranulation (GO:0043304)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	3-phosphoinositide-dependent protein kinase activity (GO:0004676)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7		Ovarian(90;0.17)			Celecoxib(DB00482)	AGAGGTTGTTGTTGGAGAAGC	0.488																																						dbGAP											0													126.0	124.0	125.0					16																	2636865		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			AF017995	CCDS10472.1, CCDS10473.1, CCDS58411.1	16p13.3	2014-03-20	2014-03-20		ENSG00000140992	ENSG00000140992			8816	protein-coding gene	gene with protein product	"""PkB kinase"""	605213				9094314, 9445477	Standard	NM_002613		Approved	PDK1	uc002cqs.4	O15530	OTTHUMG00000128874	ENST00000342085.4:c.1314G>A	16.37:g.2636865G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	H0Y4Z0|Q59EH6|Q6FI20|Q8IV52|Q9BRD5	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,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L438	ENST00000342085.4	37	c.1314	CCDS10472.1	16																																																																																			PDPK1	-	NULL	ENSG00000140992		0.488	PDPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDPK1	HGNC	protein_coding	OTTHUMT00000250831.3	71	0.00	0	G			2636865	2636865	+1	no_errors	ENST00000342085	ensembl	human	known	69_37n	silent	108	15.62	20	SNP	0.098	A
PDXDC2P	283970	genome.wustl.edu	37	16	70057293	70057293	+	RNA	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:70057293C>T	ENST00000531894.1	-	0	1120					NR_003610.1		Q6P474	PDXD2_HUMAN	pyridoxal-dependent decarboxylase domain containing 2, pseudogene						carboxylic acid metabolic process (GO:0019752)		carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)										AAGGCAGGGTCGTGTTTATAC	0.507																																						dbGAP											0																																										-	-	-			0					16q22.1	2014-03-20	2010-09-02	2010-09-02	ENSG00000196696	ENSG00000196696			27559	pseudogene	pseudogene			"""pyridoxal-dependent decarboxylase domain containing 2"""	PDXDC2			Standard	NR_003610		Approved	DKFZp761H1120	uc010vlq.1	Q6P474	OTTHUMG00000167595		16.37:g.70057293C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9Z5	RNA	SNP	-	NULL	ENST00000531894.1	37	NULL		16																																																																																			PDXDC2P	-	-	ENSG00000196696		0.507	PDXDC2P-001	KNOWN	basic|readthrough_transcript	processed_transcript	PDXDC2P	HGNC	processed_transcript	OTTHUMT00000395258.1	55	0.00	0	C			70057293	70057293	-1	no_errors	ENST00000529089	ensembl	human	known	69_37n	rna	77	15.38	14	SNP	1.000	T
PDZD2	23037	genome.wustl.edu	37	5	32091091	32091091	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:32091091G>A	ENST00000438447.1	+	20	7925	c.7537G>A	c.(7537-7539)Gag>Aag	p.E2513K	PDZD2_ENST00000282493.3_Missense_Mutation_p.E2513K			O15018	PDZD2_HUMAN	PDZ domain containing 2	2513					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CTTCAAAACTGAGCTGGAGAT	0.627																																						dbGAP											0													55.0	57.0	57.0					5																	32091091		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.7537G>A	5.37:g.32091091G>A	ENSP00000402033:p.Glu2513Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BXD4	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E2513K	ENST00000438447.1	37	c.7537	CCDS34137.1	5	.	.	.	.	.	.	.	.	.	.	G	14.95	2.689294	0.48097	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.07800	3.16;3.16	5.32	3.43	0.39272	.	0.127189	0.35772	N	0.002998	T	0.10252	0.0251	L	0.59436	1.845	0.29596	N	0.848038	P	0.42456	0.78	B	0.38106	0.265	T	0.04825	-1.0924	10	0.48119	T	0.1	.	12.7217	0.57146	0.0:0.4516:0.5484:0.0	.	2513	O15018	PDZD2_HUMAN	K	2513;2314;2513	ENSP00000402033:E2513K;ENSP00000282493:E2513K	ENSP00000282493:E2513K	E	+	1	0	PDZD2	32126848	1.000000	0.71417	0.910000	0.35882	0.481000	0.33189	4.167000	0.58209	1.241000	0.43820	0.561000	0.74099	GAG	PDZD2	-	NULL	ENSG00000133401		0.627	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD2	HGNC	protein_coding	OTTHUMT00000366608.1	29	0.00	0	G			32091091	32091091	+1	no_errors	ENST00000282493	ensembl	human	known	69_37n	missense	26	27.78	10	SNP	0.928	A
PDZD4	57595	genome.wustl.edu	37	X	153070071	153070071	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:153070071G>A	ENST00000164640.4	-	8	1238	c.1047C>T	c.(1045-1047)ctC>ctT	p.L349L	PDZD4_ENST00000544474.1_Silent_p.L240L|PDZD4_ENST00000393758.2_Silent_p.L274L|PDZD4_ENST00000475140.1_5'Flank	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	349						cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	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)					CCTCATCCGTGAGGCCCGGGA	0.677																																						dbGAP											0													34.0	31.0	32.0					X																	153070071		2201	4297	6498	-	-	-	SO:0001819	synonymous_variant	0			AK091444	CCDS14732.1	Xq28	2008-02-05		2006-01-24	ENSG00000067840	ENSG00000067840			21167	protein-coding gene	gene with protein product		300634		PDZK4		10819331, 15077175	Standard	NM_032512		Approved	KIAA1444, LU1, FLJ34125, PDZRN4L	uc004fiz.1	Q76G19	OTTHUMG00000024209	ENST00000164640.4:c.1047C>T	X.37:g.153070071G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXB1|B7ZKY3|Q8NB75|Q9BUH9|Q9P284	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.L349	ENST00000164640.4	37	c.1047	CCDS14732.1	X																																																																																			PDZD4	-	NULL	ENSG00000067840		0.677	PDZD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD4	HGNC	protein_coding	OTTHUMT00000061013.3	14	0.00	0	G	NM_032512		153070071	153070071	-1	no_errors	ENST00000164640	ensembl	human	known	69_37n	silent	11	45.00	9	SNP	1.000	A
PEAK1	79834	genome.wustl.edu	37	15	77406874	77406874	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:77406874C>T	ENST00000560626.2	-	7	5340	c.4865G>A	c.(4864-4866)cGa>cAa	p.R1622Q	PEAK1_ENST00000312493.4_Missense_Mutation_p.R1622Q			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1622	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)										CAGGTCTGCTCGTGTGTATTC	0.577																																						dbGAP											0													106.0	106.0	106.0					15																	77406874		1989	4162	6151	-	-	-	SO:0001583	missense	0				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.4865G>A	15.37:g.77406874C>T	ENSP00000452796:p.Arg1622Gln	Somatic		WXS	Illumina GAIIx	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.R1622Q	ENST00000560626.2	37	c.4865	CCDS42062.1	15	.	.	.	.	.	.	.	.	.	.	C	15.47	2.844346	0.51164	.	.	ENSG00000173517	ENST00000312493	T	0.73897	-0.79	5.57	4.66	0.58398	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.258560	0.32802	U	0.005625	T	0.62913	0.2467	N	0.21142	0.635	0.19775	N	0.999956	P	0.48407	0.91	P	0.46275	0.51	T	0.54002	-0.8358	10	0.12430	T	0.62	-12.2162	12.4207	0.55518	0.0:0.8602:0.0:0.1398	.	1622	Q9H792	PEAK1_HUMAN	Q	1622	ENSP00000309230:R1622Q	ENSP00000309230:R1622Q	R	-	2	0	AC087465.1	75193929	0.978000	0.34361	0.541000	0.28102	0.961000	0.63080	3.100000	0.50275	1.367000	0.46095	0.561000	0.74099	CGA	PEAK1	-	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	ENSG00000173517		0.577	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PEAK1	Clone_based_vega_gene	protein_coding	OTTHUMT00000419483.3	148	0.00	0	C			77406874	77406874	-1	no_errors	ENST00000312493	ensembl	human	known	69_37n	missense	122	25.61	42	SNP	0.358	T
PEAK1	79834	genome.wustl.edu	37	15	77407121	77407121	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:77407121C>T	ENST00000560626.2	-	7	5093	c.4618G>A	c.(4618-4620)Gag>Aag	p.E1540K	PEAK1_ENST00000312493.4_Missense_Mutation_p.E1540K			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1540	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)										GGGCTGGGCTCTGCAGGCCCA	0.577																																						dbGAP											0													53.0	54.0	54.0					15																	77407121		1905	4124	6029	-	-	-	SO:0001583	missense	0				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.4618G>A	15.37:g.77407121C>T	ENSP00000452796:p.Glu1540Lys	Somatic		WXS	Illumina GAIIx	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.E1540K	ENST00000560626.2	37	c.4618	CCDS42062.1	15	.	.	.	.	.	.	.	.	.	.	C	18.09	3.546180	0.65198	.	.	ENSG00000173517	ENST00000312493	T	0.68903	-0.36	5.23	5.23	0.72850	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.777035	0.11039	U	0.606314	T	0.67813	0.2933	L	0.34521	1.04	0.46096	D	0.998867	P	0.43938	0.822	P	0.48368	0.575	T	0.63625	-0.6595	10	0.33141	T	0.24	-4.1608	18.8033	0.92027	0.0:1.0:0.0:0.0	.	1540	Q9H792	PEAK1_HUMAN	K	1540	ENSP00000309230:E1540K	ENSP00000309230:E1540K	E	-	1	0	AC087465.1	75194176	1.000000	0.71417	0.329000	0.25429	0.773000	0.43773	4.962000	0.63687	2.465000	0.83290	0.561000	0.74099	GAG	PEAK1	-	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	ENSG00000173517		0.577	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PEAK1	Clone_based_vega_gene	protein_coding	OTTHUMT00000419483.3	39	0.00	0	C			77407121	77407121	-1	no_errors	ENST00000312493	ensembl	human	known	69_37n	missense	42	16.00	8	SNP	1.000	T
PEF1	553115	genome.wustl.edu	37	1	32100927	32100927	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:32100927G>C	ENST00000373703.4	-	2	243	c.221C>G	c.(220-222)tCt>tGt	p.S74C	PEF1_ENST00000440872.2_Missense_Mutation_p.S74C|PEF1_ENST00000492061.1_5'UTR	NM_012392.3	NP_036524.1	Q9UBV8	PEF1_HUMAN	penta-EF-hand domain containing 1	74	9 X 9 AA approximate tandem repeat of [AP]-P-G-G-P-Y-G-G-P-P.				proteolysis (GO:0006508)|response to calcium ion (GO:0051592)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|poly(A) RNA binding (GO:0044822)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)	7		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)|all_neural(195;0.186)		STAD - Stomach adenocarcinoma(196;0.0546)		TGGAGTTCCAGAGGGGAACAT	0.642																																						dbGAP											0													27.0	30.0	29.0					1																	32100927		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS345.1	1p34	2013-01-10			ENSG00000162517	ENSG00000162517		"""EF-hand domain containing"""	30009	protein-coding gene	gene with protein product	"""peflin"""	610033				10486255, 11883899	Standard	NM_012392		Approved	PEF1A	uc001bth.2	Q9UBV8	OTTHUMG00000003877	ENST00000373703.4:c.221C>G	1.37:g.32100927G>C	ENSP00000362807:p.Ser74Cys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.S74C	ENST00000373703.4	37	c.221	CCDS345.1	1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.215092	0.39102	.	.	ENSG00000162517	ENST00000373703;ENST00000440872	D	0.85258	-1.96	4.12	3.19	0.36642	.	12.497800	0.00772	N	0.001203	D	0.87124	0.6099	L	0.50333	1.59	0.25584	N	0.986762	D;P	0.54964	0.969;0.454	P;B	0.50490	0.642;0.171	T	0.74677	-0.3585	10	0.39692	T	0.17	.	10.8299	0.46654	0.0992:0.0:0.9008:0.0	.	74;74	E7ETX1;Q9UBV8	.;PEF1_HUMAN	C	74	ENSP00000362807:S74C	ENSP00000362807:S74C	S	-	2	0	PEF1	31873514	0.428000	0.25522	0.873000	0.34254	0.895000	0.52256	1.716000	0.37981	2.249000	0.74217	0.491000	0.48974	TCT	PEF1	-	NULL	ENSG00000162517		0.642	PEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEF1	HGNC	protein_coding	OTTHUMT00000011046.1	16	0.00	0	G	NM_012392		32100927	32100927	-1	no_errors	ENST00000373703	ensembl	human	known	69_37n	missense	14	26.32	5	SNP	0.935	C
ZIM2	23619	genome.wustl.edu	37	19	57286215	57286215	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:57286215G>C	ENST00000391708.3	-	12	1967	c.1425C>G	c.(1423-1425)ttC>ttG	p.F475L	ZIM2_ENST00000221722.5_Missense_Mutation_p.F475L|AC006115.3_ENST00000597946.1_RNA|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000593711.1_Missense_Mutation_p.F475L|ZIM2_ENST00000601070.1_Missense_Mutation_p.F475L|AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000599935.1_Missense_Mutation_p.F475L	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	475					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)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		AATTCCGACTGAAGACTCTGC	0.478																																						dbGAP											0													85.0	72.0	77.0					19																	57286215		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF166122	CCDS33123.1	19q13.4	2012-10-31				ENSG00000269699		"""Zinc fingers, C2H2-type"""	12875	protein-coding gene	gene with protein product							Standard	NM_015363		Approved	ZNF656		Q9NZV7		ENST00000391708.3:c.1425C>G	19.37:g.57286215G>C	ENSP00000375589:p.Phe475Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M3K1	Missense_Mutation	SNP	pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F475L	ENST00000391708.3	37	c.1425	CCDS33123.1	19	.	.	.	.	.	.	.	.	.	.	G	9.012	0.982703	0.18889	.	.	ENSG00000198300	ENST00000391708;ENST00000221722	T;T	0.41065	1.01;1.01	4.96	1.67	0.24075	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.57446	0.2054	M	0.71206	2.165	.	.	.	D	0.89917	1.0	D	0.67548	0.952	T	0.66135	-0.5999	8	0.87932	D	0	.	8.5455	0.33419	0.2557:0.0:0.7443:0.0	.	475	Q9NZV7	ZIM2_HUMAN	L	475	ENSP00000375589:F475L;ENSP00000221722:F475L	ENSP00000221722:F475L	F	-	3	2	ZIM2	61978027	0.589000	0.26807	0.005000	0.12908	0.009000	0.06853	0.844000	0.27654	0.289000	0.22422	-0.140000	0.14226	TTC	PEG3	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198300		0.478	ZIM2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	PEG3	HGNC	protein_coding	OTTHUMT00000416094.2	65	0.00	0	G			57286215	57286215	-1	no_errors	ENST00000221722	ensembl	human	known	69_37n	missense	46	31.34	21	SNP	0.456	C
PEG3	5178	genome.wustl.edu	37	19	57326917	57326917	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:57326917G>C	ENST00000326441.9	-	10	3256	c.2893C>G	c.(2893-2895)Cga>Gga	p.R965G	ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.R965G|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.R839G|PEG3_ENST00000598410.1_Missense_Mutation_p.R841G|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	965					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AGCATCCCTCGAGGGCGAAAT	0.473																																						dbGAP											0													122.0	116.0	118.0					19																	57326917		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.2893C>G	19.37:g.57326917G>C	ENSP00000326581:p.Arg965Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.R965G	ENST00000326441.9	37	c.2893	CCDS12948.1	19	.	.	.	.	.	.	.	.	.	.	G	1.379	-0.583897	0.03827	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02579	4.24;4.24	3.99	1.9	0.25705	.	0.269759	0.26731	N	0.022787	T	0.04497	0.0123	M	0.68593	2.085	.	.	.	B;P;D	0.58620	0.015;0.919;0.983	B;P;P	0.52267	0.006;0.518;0.694	T	0.14980	-1.0453	9	0.02654	T	1	-17.5433	3.5155	0.07723	0.0:0.2159:0.2184:0.5657	.	841;965;900	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	G	965	ENSP00000326581:R965G;ENSP00000403051:R965G	ENSP00000326581:R965G	R	-	1	2	ZIM2	62018729	0.000000	0.05858	0.343000	0.25615	0.089000	0.18198	-0.525000	0.06214	0.379000	0.24794	-0.262000	0.10625	CGA	PEG3	-	NULL	ENSG00000198300		0.473	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PEG3	HGNC	protein_coding	OTTHUMT00000416099.2	73	0.00	0	G			57326917	57326917	-1	no_errors	ENST00000326441	ensembl	human	known	69_37n	missense	52	23.53	16	SNP	0.983	C
PEG3	5178	genome.wustl.edu	37	19	57327706	57327706	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:57327706C>T	ENST00000326441.9	-	10	2467	c.2104G>A	c.(2104-2106)Gag>Aag	p.E702K	ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.E702K|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.E576K|PEG3_ENST00000598410.1_Missense_Mutation_p.E578K|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	702					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TTCTGATGCTCACTGAGCTCT	0.443																																						dbGAP											0													70.0	69.0	69.0					19																	57327706		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.2104G>A	19.37:g.57327706C>T	ENSP00000326581:p.Glu702Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.E702K	ENST00000326441.9	37	c.2104	CCDS12948.1	19	.	.	.	.	.	.	.	.	.	.	C	11.85	1.761060	0.31137	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.14516	2.5;2.5	3.83	2.8	0.32819	.	0.334108	0.21802	N	0.068915	T	0.11623	0.0283	L	0.43757	1.38	.	.	.	B;P;P	0.44429	0.116;0.828;0.835	B;B;B	0.43386	0.016;0.418;0.363	T	0.09037	-1.0693	9	0.09338	T	0.73	-8.3886	9.4972	0.38995	0.0:0.8934:0.0:0.1066	.	578;702;637	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	K	702	ENSP00000326581:E702K;ENSP00000403051:E702K	ENSP00000326581:E702K	E	-	1	0	ZIM2	62019518	0.000000	0.05858	0.211000	0.23655	0.982000	0.71751	-1.638000	0.02013	1.197000	0.43143	0.585000	0.79938	GAG	PEG3	-	NULL	ENSG00000198300		0.443	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PEG3	HGNC	protein_coding	OTTHUMT00000416099.2	63	0.00	0	C			57327706	57327706	-1	no_errors	ENST00000326441	ensembl	human	known	69_37n	missense	45	25.00	15	SNP	0.124	T
PELI2	57161	genome.wustl.edu	37	14	56763422	56763422	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:56763422G>C	ENST00000267460.4	+	6	1087	c.801G>C	c.(799-801)caG>caC	p.Q267H		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	267					innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein phosphorylation (GO:0001934)|protein ubiquitination (GO:0016567)|Toll signaling pathway (GO:0008063)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|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)	cytosol (GO:0005829)	ligase activity (GO:0016874)			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						CTCCAACTCAGAAGCACATAG	0.577																																						dbGAP											0													59.0	60.0	60.0					14																	56763422		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF302502	CCDS9726.1	14q21	2012-02-23	2012-02-23		ENSG00000139946	ENSG00000139946		"""Pellino homologs"""	8828	protein-coding gene	gene with protein product		614798	"""pellino (Drosophila) homolog 2"", ""pellino homolog 2 (Drosophila)"""			11306823, 12860405	Standard	XM_006720211		Approved		uc001xch.3	Q9HAT8	OTTHUMG00000152336	ENST00000267460.4:c.801G>C	14.37:g.56763422G>C	ENSP00000267460:p.Gln267His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDY5	Missense_Mutation	SNP	pfam_Pellino	p.Q267H	ENST00000267460.4	37	c.801	CCDS9726.1	14	.	.	.	.	.	.	.	.	.	.	G	12.18	1.861337	0.32884	.	.	ENSG00000139946	ENST00000267460	T	0.44881	0.91	5.42	4.34	0.51931	.	0.108090	0.64402	D	0.000005	T	0.38374	0.1038	N	0.19112	0.55	0.46131	D	0.998886	P	0.50710	0.938	P	0.55161	0.77	T	0.03423	-1.1038	10	0.21014	T	0.42	-25.9288	11.5535	0.50733	0.1534:0.0:0.8466:0.0	.	267	Q9HAT8	PELI2_HUMAN	H	267	ENSP00000267460:Q267H	ENSP00000267460:Q267H	Q	+	3	2	PELI2	55833175	1.000000	0.71417	0.988000	0.46212	0.970000	0.65996	0.725000	0.25970	2.557000	0.86248	0.555000	0.69702	CAG	PELI2	-	pfam_Pellino	ENSG00000139946		0.577	PELI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PELI2	HGNC	protein_coding	OTTHUMT00000276925.1	46	0.00	0	G			56763422	56763422	+1	no_errors	ENST00000267460	ensembl	human	known	69_37n	missense	23	32.35	11	SNP	1.000	C
PER1	5187	genome.wustl.edu	37	17	8046020	8046020	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:8046020G>C	ENST00000317276.4	-	20	3443	c.3206C>G	c.(3205-3207)tCt>tGt	p.S1069C	PER1_ENST00000578089.1_5'Flank|PER1_ENST00000581082.1_Missense_Mutation_p.S1046C	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	1069	Ser-rich.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|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)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						ACCAGACCCAGAGCCCAAGCC	0.647			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes																														dbGAP		Dom	yes		17	17p13.1-17p12	5187	period homolog 1 (Drosophila)		L	0													50.0	59.0	56.0					17																	8046020		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"""period (Drosophila) homolog 1"", ""period homolog 1 (Drosophila)"""	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.3206C>G	17.37:g.8046020G>C	ENSP00000314420:p.Ser1069Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,smart_PAS,pfscan_PAS	p.S1069C	ENST00000317276.4	37	c.3206	CCDS11131.1	17	.	.	.	.	.	.	.	.	.	.	G	21.9	4.222038	0.79464	.	.	ENSG00000179094	ENST00000317276	T	0.15372	2.43	4.99	4.99	0.66335	Period circadian-like, C-terminal (1);	0.204155	0.42682	D	0.000661	T	0.25158	0.0611	L	0.27053	0.805	0.80722	D	1	D	0.63046	0.992	P	0.60886	0.88	T	0.00489	-1.1709	10	0.49607	T	0.09	-10.224	13.9833	0.64317	0.0:0.0:1.0:0.0	.	1069	O15534	PER1_HUMAN	C	1069	ENSP00000314420:S1069C	ENSP00000314420:S1069C	S	-	2	0	PER1	7986745	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.898000	0.63238	2.779000	0.95612	0.591000	0.81541	TCT	PER1	-	pfam_Period_circadian-like_C	ENSG00000179094		0.647	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PER1	HGNC	protein_coding	OTTHUMT00000441481.2	36	0.00	0	G			8046020	8046020	-1	no_errors	ENST00000317276	ensembl	human	known	69_37n	missense	34	24.44	11	SNP	1.000	C
PER1	5187	genome.wustl.edu	37	17	8051506	8051506	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:8051506C>G	ENST00000317276.4	-	9	1357	c.1120G>C	c.(1120-1122)Gat>Cat	p.D374H	PER1_ENST00000578089.1_5'Flank|PER1_ENST00000354903.5_Missense_Mutation_p.D358H|PER1_ENST00000581082.1_Missense_Mutation_p.D354H	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	374	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|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)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CACCTTTCATCCACATCCTGG	0.617			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes																														dbGAP		Dom	yes		17	17p13.1-17p12	5187	period homolog 1 (Drosophila)		L	0													100.0	90.0	94.0					17																	8051506		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"""period (Drosophila) homolog 1"", ""period homolog 1 (Drosophila)"""	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.1120G>C	17.37:g.8051506C>G	ENSP00000314420:p.Asp374His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,smart_PAS,pfscan_PAS	p.D374H	ENST00000317276.4	37	c.1120	CCDS11131.1	17	.	.	.	.	.	.	.	.	.	.	C	25.5	4.645877	0.87958	.	.	ENSG00000179094	ENST00000317276;ENST00000354903	T;T	0.20332	2.08;2.08	5.53	5.53	0.82687	PAS fold-3 (1);PAS (2);	0.120576	0.64402	D	0.000015	T	0.66107	0.2756	H	0.98701	4.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.80885	-0.1182	10	0.87932	D	0	-16.4055	16.9476	0.86233	0.0:1.0:0.0:0.0	.	358;374	B4DI49;O15534	.;PER1_HUMAN	H	374;358	ENSP00000314420:D374H;ENSP00000346979:D358H	ENSP00000314420:D374H	D	-	1	0	PER1	7992231	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.753000	0.85153	2.606000	0.88127	0.563000	0.77884	GAT	PER1	-	pfam_PAS_fold_3,smart_PAS,pfscan_PAS	ENSG00000179094		0.617	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PER1	HGNC	protein_coding	OTTHUMT00000441481.2	50	0.00	0	C			8051506	8051506	-1	no_errors	ENST00000317276	ensembl	human	known	69_37n	missense	39	25.00	13	SNP	1.000	G
PES1	23481	genome.wustl.edu	37	22	30975275	30975275	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:30975275G>A	ENST00000405677.1	-	15	1896	c.953C>T	c.(952-954)tCa>tTa	p.S318L	PES1_ENST00000335214.6_Missense_Mutation_p.S452L|PES1_ENST00000402281.1_Missense_Mutation_p.S318L|PES1_ENST00000402284.3_Missense_Mutation_p.S440L|PES1_ENST00000354694.7_Missense_Mutation_p.S457L	NM_001282328.1	NP_001269257.1			pescadillo ribosomal biogenesis factor 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						ctcctcttcTGACTCATTCAG	0.522																																						dbGAP											0													54.0	55.0	55.0					22																	30975275		2203	4300	6503	-	-	-	SO:0001583	missense	0			U78310	CCDS13880.1, CCDS58802.1, CCDS74842.1	22q12.1	2012-02-23	2012-02-23		ENSG00000100029	ENSG00000100029			8848	protein-coding gene	gene with protein product		605819	"""pescadillo (zebrafish) homolog 1, containing BRCT domain"", ""pescadillo homolog 1, containing BRCT domain (zebrafish)"""			8985183, 10591208, 17353269	Standard	NM_014303		Approved	PES	uc003aij.2	O00541	OTTHUMG00000151077	ENST00000405677.1:c.953C>T	22.37:g.30975275G>A	ENSP00000385654:p.Ser318Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Pescadillo,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.S457L	ENST00000405677.1	37	c.1370		22	.	.	.	.	.	.	.	.	.	.	G	10.09	1.255573	0.22965	.	.	ENSG00000100029	ENST00000354694;ENST00000402281;ENST00000405677;ENST00000402284;ENST00000335214	T;T;T;T;T	0.24908	1.84;1.84;1.84;1.84;1.83	3.66	3.66	0.41972	.	1.537360	0.03655	N	0.241579	T	0.33527	0.0866	M	0.68593	2.085	0.52501	D	0.999955	B;B;B;B	0.18166	0.015;0.015;0.026;0.015	B;B;B;B	0.11329	0.003;0.003;0.006;0.003	T	0.18085	-1.0348	10	0.39692	T	0.17	3.3425	11.7356	0.51763	0.0:0.0:0.8229:0.1771	.	457;440;452;457	B2RDF2;B5MCF9;O00541-2;O00541	.;.;.;PESC_HUMAN	L	457;318;318;440;452	ENSP00000346725:S457L;ENSP00000384366:S318L;ENSP00000385654:S318L;ENSP00000384252:S440L;ENSP00000334612:S452L	ENSP00000334612:S452L	S	-	2	0	PES1	29305275	0.001000	0.12720	0.948000	0.38648	0.727000	0.41649	0.831000	0.27476	1.769000	0.52152	0.563000	0.77884	TCA	PES1	-	NULL	ENSG00000100029		0.522	PES1-002	PUTATIVE	basic|exp_conf	protein_coding	PES1	HGNC	protein_coding	OTTHUMT00000321189.2	71	0.00	0	G	NM_014303		30975275	30975275	-1	no_errors	ENST00000354694	ensembl	human	known	69_37n	missense	101	30.34	44	SNP	0.647	A
PEX11A	8800	genome.wustl.edu	37	15	90226631	90226631	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:90226631G>C	ENST00000300056.3	-	3	870	c.721C>G	c.(721-723)Cag>Gag	p.Q241E	PEX11A_ENST00000561224.1_Intron|PEX11A_ENST00000561257.1_Missense_Mutation_p.Q210E|PEX11A_ENST00000557982.1_Intron|PEX11A_ENST00000559170.1_3'UTR	NM_001271573.1	NP_001258502.1	O75192	PX11A_HUMAN	peroxisomal biogenesis factor 11 alpha	241					brown fat cell differentiation (GO:0050873)|cellular lipid metabolic process (GO:0044255)|peroxisome fission (GO:0016559)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|regulation of peroxisome size (GO:0044375)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	integral component of peroxisomal membrane (GO:0005779)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(2)|lung(3)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			AGCTTCATCTGAGGATATGCC	0.463																																						dbGAP											0													217.0	222.0	220.0					15																	90226631		2200	4299	6499	-	-	-	SO:0001583	missense	0			AF093668	CCDS10354.1, CCDS61751.1	15q	2008-08-26	2008-08-26		ENSG00000166821	ENSG00000166821			8852	protein-coding gene	gene with protein product		603866	"""peroxisomal biogenesis factor 11A"""			9792670	Standard	NM_003847		Approved	PEX11-ALPHA, MGC119947, MGC138534	uc002boi.4	O75192	OTTHUMG00000149809	ENST00000300056.3:c.721C>G	15.37:g.90226631G>C	ENSP00000300056:p.Gln241Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DV88	Missense_Mutation	SNP	pfam_PEX11	p.Q241E	ENST00000300056.3	37	c.721	CCDS10354.1	15	.	.	.	.	.	.	.	.	.	.	G	10.36	1.330053	0.24167	.	.	ENSG00000166821	ENST00000300056	T	0.41065	1.01	5.22	5.22	0.72569	.	0.847176	0.11057	N	0.604432	T	0.39410	0.1077	L	0.57536	1.79	0.34643	D	0.72088	B	0.23937	0.094	B	0.19666	0.026	T	0.38200	-0.9672	10	0.19590	T	0.45	-3.2531	11.386	0.49785	0.0819:0.0:0.9181:0.0	.	241	O75192	PX11A_HUMAN	E	241	ENSP00000300056:Q241E	ENSP00000300056:Q241E	Q	-	1	0	PEX11A	88027635	0.941000	0.31946	0.999000	0.59377	0.959000	0.62525	3.561000	0.53770	2.711000	0.92665	0.655000	0.94253	CAG	PEX11A	-	NULL	ENSG00000166821		0.463	PEX11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX11A	HGNC	protein_coding	OTTHUMT00000313420.1	55	0.00	0	G	NM_003847		90226631	90226631	-1	no_errors	ENST00000300056	ensembl	human	known	69_37n	missense	40	33.33	20	SNP	0.534	C
PEX11B	8799	genome.wustl.edu	37	1	145518073	145518073	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:145518073C>G	ENST00000369306.3	+	3	324	c.175C>G	c.(175-177)Cta>Gta	p.L59V	GNRHR2_ENST00000312753.5_RNA|PEX11B_ENST00000537888.1_Missense_Mutation_p.L45V	NM_003846.2	NP_003837.1	O96011	PX11B_HUMAN	peroxisomal biogenesis factor 11 beta	59					peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|protein homooligomerization (GO:0051260)|regulation of peroxisome size (GO:0044375)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCCACAAGTTCTACGCCTGGG	0.443																																						dbGAP											0													134.0	124.0	128.0					1																	145518073		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF093670	CCDS72870.1, CCDS72871.1	1q21	2008-08-26	2008-08-26		ENSG00000131779	ENSG00000131779			8853	protein-coding gene	gene with protein product		603867	"""peroxisomal biogenesis factor 11B"""			9792670	Standard	NM_003846		Approved		uc001eny.2	O96011	OTTHUMG00000013756	ENST00000369306.3:c.175C>G	1.37:g.145518073C>G	ENSP00000358312:p.Leu59Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KN85|B4DXH9|Q96ET2	Missense_Mutation	SNP	pfam_PEX11	p.L59V	ENST00000369306.3	37	c.175	CCDS917.1	1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.711319	0.48517	.	.	ENSG00000131779	ENST00000369306;ENST00000537888	T;T	0.59364	0.27;0.27	5.17	5.17	0.71159	.	0.151383	0.45867	D	0.000339	T	0.50034	0.1592	L	0.55213	1.73	0.50467	D	0.999879	P;P	0.47409	0.895;0.895	P;P	0.50049	0.629;0.629	T	0.56727	-0.7931	10	0.62326	D	0.03	-5.6354	9.555	0.39332	0.0:0.9073:0.0:0.0927	.	45;59	B4DXH9;O96011	.;PX11B_HUMAN	V	59;45	ENSP00000358312:L59V;ENSP00000437510:L45V	ENSP00000358312:L59V	L	+	1	2	PEX11B	144229430	1.000000	0.71417	0.903000	0.35520	0.986000	0.74619	1.221000	0.32503	2.696000	0.92011	0.655000	0.94253	CTA	PEX11B	-	pfam_PEX11	ENSG00000131779		0.443	PEX11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX11B	HGNC	protein_coding	OTTHUMT00000038549.1	124	0.00	0	C	NM_003846		145518073	145518073	+1	no_errors	ENST00000369306	ensembl	human	known	69_37n	missense	130	15.03	23	SNP	0.999	G
PEX13	5194	genome.wustl.edu	37	2	61275807	61275807	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:61275807G>A	ENST00000295030.5	+	4	1152	c.1114G>A	c.(1114-1116)Gaa>Aaa	p.E372K		NM_002618.3	NP_002609.1	Q92968	PEX13_HUMAN	peroxisomal biogenesis factor 13	372					cerebral cortex cell migration (GO:0021795)|fatty acid alpha-oxidation (GO:0001561)|locomotory behavior (GO:0007626)|microtubule-based peroxisome localization (GO:0060152)|neuron migration (GO:0001764)|protein import into peroxisome matrix, docking (GO:0016560)|suckling behavior (GO:0001967)	integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)				endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			LUSC - Lung squamous cell carcinoma(5;2.05e-06)|Lung(5;3.13e-05)|Epithelial(17;0.114)			TTCTTTGGATGAACAGGAAGC	0.403																																						dbGAP											0													121.0	116.0	118.0					2																	61275807		2203	4300	6503	-	-	-	SO:0001583	missense	0			U71374	CCDS1866.1	2p16.1	2008-08-26	2008-08-26		ENSG00000162928	ENSG00000162928			8855	protein-coding gene	gene with protein product		601789	"""peroxisome biogenesis factor 13"""			9878256	Standard	NM_002618		Approved		uc002sau.4	Q92968	OTTHUMG00000129422	ENST00000295030.5:c.1114G>A	2.37:g.61275807G>A	ENSP00000295030:p.Glu372Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCS1	Missense_Mutation	SNP	pfam_Peroxin-13_N,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain	p.E372K	ENST00000295030.5	37	c.1114	CCDS1866.1	2	.	.	.	.	.	.	.	.	.	.	G	16.91	3.253233	0.59212	.	.	ENSG00000162928	ENST00000295030	T	0.77877	-1.13	5.6	4.72	0.59763	.	0.440315	0.25777	N	0.028365	T	0.68723	0.3032	L	0.29908	0.895	0.80722	D	1	B	0.18013	0.025	B	0.18263	0.021	T	0.62868	-0.6763	10	0.29301	T	0.29	-10.3383	16.9708	0.86298	0.0:0.1275:0.8724:0.0	.	372	Q92968	PEX13_HUMAN	K	372	ENSP00000295030:E372K	ENSP00000295030:E372K	E	+	1	0	PEX13	61129311	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	4.624000	0.61254	1.479000	0.48272	0.655000	0.94253	GAA	PEX13	-	NULL	ENSG00000162928		0.403	PEX13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX13	HGNC	protein_coding	OTTHUMT00000251581.3	104	0.00	0	G	NM_002618		61275807	61275807	+1	no_errors	ENST00000295030	ensembl	human	known	69_37n	missense	98	13.27	15	SNP	1.000	A
PEX5L	51555	genome.wustl.edu	37	3	179537670	179537670	+	Missense_Mutation	SNP	A	A	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:179537670A>C	ENST00000467460.1	-	9	1247	c.917T>G	c.(916-918)gTa>gGa	p.V306G	PEX5L_ENST00000476138.1_Missense_Mutation_p.V263G|PEX5L_ENST00000464614.1_Missense_Mutation_p.V198G|PEX5L_ENST00000465751.1_Missense_Mutation_p.V282G|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000263962.8_Missense_Mutation_p.V304G|PEX5L_ENST00000468741.1_Missense_Mutation_p.V114G|PEX5L_ENST00000392649.3_Missense_Mutation_p.V198G|PEX5L_ENST00000485199.1_Missense_Mutation_p.V271G|PEX5L_ENST00000472994.1_Missense_Mutation_p.V247G	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	306					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CGAGATGGTTACTTGGTTCTG	0.418																																						dbGAP											0													266.0	234.0	245.0					3																	179537670		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.917T>G	3.37:g.179537670A>C	ENSP00000419975:p.Val306Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.V306G	ENST00000467460.1	37	c.917	CCDS3236.1	3	.	.	.	.	.	.	.	.	.	.	A	13.37	2.215752	0.39102	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751	D;D;D;D;D;D;D;D;D	0.87571	-2.26;-2.27;-2.25;-2.24;-2.22;-2.25;-2.24;-2.24;-2.25	5.5	5.5	0.81552	.	0.298098	0.33691	N	0.004654	T	0.78130	0.4235	N	0.22421	0.69	0.53688	D	0.999973	B;B;B;B;B;B	0.28933	0.035;0.035;0.07;0.228;0.103;0.146	B;B;B;B;B;B	0.25987	0.018;0.012;0.065;0.058;0.04;0.016	T	0.77346	-0.2622	10	0.87932	D	0	-18.1142	9.4581	0.38767	0.9204:0.0:0.0796:0.0	.	247;282;198;304;271;306	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	G	306;304;271;304;198;114;263;194;247;198;282	ENSP00000419975:V306G;ENSP00000263962:V304G;ENSP00000418440:V271G;ENSP00000376420:V198G;ENSP00000418665:V114G;ENSP00000420555:V263G;ENSP00000418054:V247G;ENSP00000417270:V198G;ENSP00000419348:V282G	ENSP00000263962:V304G	V	-	2	0	PEX5L	181020364	1.000000	0.71417	0.943000	0.38184	0.917000	0.54804	5.238000	0.65366	2.096000	0.63516	0.533000	0.62120	GTA	PEX5L	-	NULL	ENSG00000114757		0.418	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PEX5L	HGNC	protein_coding	OTTHUMT00000348577.1	239	0.41	1	A	NM_016559		179537670	179537670	-1	no_errors	ENST00000467460	ensembl	human	known	69_37n	missense	229	17.33	48	SNP	0.976	C
PFKM	5213	genome.wustl.edu	37	12	48528606	48528606	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:48528606C>T	ENST00000312352.7	+	8	780	c.741C>T	c.(739-741)ctC>ctT	p.L247L	PFKM_ENST00000395233.2_Silent_p.L247L|PFKM_ENST00000547587.1_Silent_p.L247L|PFKM_ENST00000359794.5_Silent_p.L247L|PFKM_ENST00000551804.1_Silent_p.L247L|PFKM_ENST00000340802.6_Silent_p.L318L	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle	247	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of insulin secretion (GO:0032024)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						GTCGCCGACTCAGCGAGGTAC	0.507																																						dbGAP											0													119.0	113.0	115.0					12																	48528606		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M26066	CCDS8760.1, CCDS53786.1	12q13.11	2014-06-13					2.7.1.11		8877	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 122"""	610681	"""phosphofructokinase, polypeptide X"""	PFKX			Standard	NM_001166686		Approved	PFK-1, PPP1R122	uc001rrb.2	P08237		ENST00000312352.7:c.741C>T	12.37:g.48528606C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	J3KNX3|Q16814|Q16815|Q6ZTT1	Silent	SNP	pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk	p.L247	ENST00000312352.7	37	c.741	CCDS8760.1	12																																																																																			PFKM	-	pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,tigrfam_6-phosphofructokinase_euk	ENSG00000152556		0.507	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PFKM	HGNC	protein_coding	OTTHUMT00000406490.1	135	0.00	0	C	NM_000289		48528606	48528606	+1	no_errors	ENST00000312352	ensembl	human	known	69_37n	silent	112	32.53	54	SNP	0.930	T
PGAP1	80055	genome.wustl.edu	37	2	197763089	197763089	+	Missense_Mutation	SNP	G	G	A	rs377188685		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:197763089G>A	ENST00000354764.4	-	6	926	c.812C>T	c.(811-813)tCa>tTa	p.S271L	PGAP1_ENST00000409475.1_Missense_Mutation_p.S271L|PGAP1_ENST00000485830.1_5'UTR|PGAP1_ENST00000409188.1_Missense_Mutation_p.S229L	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	271					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						AGGCACTGCTGAACTCTAAAA	0.333																																						dbGAP											0													76.0	75.0	76.0					2																	197763089		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"""GPI inositol-deacylase"""	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.812C>T	2.37:g.197763089G>A	ENSP00000346809:p.Ser271Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Missense_Mutation	SNP	pfam_PGAP1-like	p.S271L	ENST00000354764.4	37	c.812	CCDS2318.1	2	.	.	.	.	.	.	.	.	.	.	G	24.5	4.538811	0.85917	.	.	ENSG00000197121	ENST00000422382;ENST00000354764;ENST00000409475;ENST00000409188;ENST00000374738	T;T;T;D	0.86562	0.86;0.86;0.86;-2.14	5.21	5.21	0.72293	.	0.141231	0.48767	D	0.000165	D	0.92136	0.7507	M	0.73962	2.25	0.43564	D	0.995883	P;P;D	0.57571	0.92;0.952;0.98	B;B;P	0.59487	0.388;0.436;0.858	D	0.92533	0.6035	10	0.62326	D	0.03	-15.0797	17.1737	0.86836	0.0:0.0:1.0:0.0	.	229;271;271	B4DYY6;Q75T13-3;Q75T13	.;.;PGAP1_HUMAN	L	51;271;271;229;51	ENSP00000346809:S271L;ENSP00000387028:S271L;ENSP00000386802:S229L;ENSP00000363870:S51L	ENSP00000346809:S271L	S	-	2	0	PGAP1	197471334	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.871000	0.75531	2.726000	0.93360	0.650000	0.86243	TCA	PGAP1	-	pfam_PGAP1-like	ENSG00000197121		0.333	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGAP1	HGNC	protein_coding	OTTHUMT00000256103.5	69	0.00	0	G	NM_024989		197763089	197763089	-1	no_errors	ENST00000354764	ensembl	human	known	69_37n	missense	60	14.29	10	SNP	1.000	A
PGAP1	80055	genome.wustl.edu	37	2	197781290	197781290	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:197781290C>G	ENST00000354764.4	-	3	443	c.329G>C	c.(328-330)aGa>aCa	p.R110T	PGAP1_ENST00000409475.1_Missense_Mutation_p.R110T|PGAP1_ENST00000485830.1_5'UTR|PGAP1_ENST00000409188.1_Missense_Mutation_p.R68T	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	110					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						CTCTGCTTTTCTAAGTGCAAT	0.388																																						dbGAP											0													77.0	70.0	73.0					2																	197781290		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"""GPI inositol-deacylase"""	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.329G>C	2.37:g.197781290C>G	ENSP00000346809:p.Arg110Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Missense_Mutation	SNP	pfam_PGAP1-like	p.R110T	ENST00000354764.4	37	c.329	CCDS2318.1	2	.	.	.	.	.	.	.	.	.	.	C	21.5	4.160037	0.78226	.	.	ENSG00000197121	ENST00000354764;ENST00000409475;ENST00000409188	T;T;T	0.43294	0.95;0.95;0.95	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.68860	0.3047	M	0.81497	2.545	0.80722	D	1	P;D	0.89917	0.785;1.0	B;D	0.87578	0.408;0.998	T	0.69764	-0.5057	10	0.54805	T	0.06	-21.9223	20.0008	0.97408	0.0:1.0:0.0:0.0	.	110;110	Q75T13-3;Q75T13	.;PGAP1_HUMAN	T	110;110;68	ENSP00000346809:R110T;ENSP00000387028:R110T;ENSP00000386802:R68T	ENSP00000346809:R110T	R	-	2	0	PGAP1	197489535	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.434000	0.80377	2.796000	0.96246	0.644000	0.83932	AGA	PGAP1	-	pfam_PGAP1-like	ENSG00000197121		0.388	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGAP1	HGNC	protein_coding	OTTHUMT00000256103.5	86	0.00	0	C	NM_024989		197781290	197781290	-1	no_errors	ENST00000354764	ensembl	human	known	69_37n	missense	84	19.23	20	SNP	1.000	G
PGAP2	27315	genome.wustl.edu	37	11	3845301	3845301	+	Silent	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:3845301C>A	ENST00000463452.2	+	3	437	c.354C>A	c.(352-354)ggC>ggA	p.G118G	PGAP2_ENST00000396986.2_Silent_p.G175G|PGAP2_ENST00000278243.4_Silent_p.G179G|PGAP2_ENST00000496834.2_5'UTR|PGAP2_ENST00000396993.4_Missense_Mutation_p.P72T|AC090587.2_ENST00000507938.1_RNA|PGAP2_ENST00000300730.6_Silent_p.G175G|PGAP2_ENST00000493547.2_Silent_p.G118G|PGAP2_ENST00000532017.1_3'UTR|PGAP2_ENST00000465307.2_Missense_Mutation_p.P122T|PGAP2_ENST00000396991.2_Silent_p.G179G|PGAP2_ENST00000479072.1_5'UTR	NM_001256240.1	NP_001243169.1	Q9UHJ9	PGAP2_HUMAN	post-GPI attachment to proteins 2	118					GPI anchor biosynthetic process (GO:0006506)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|signal transduction in response to DNA damage (GO:0042770)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11						TCAACTTCGGCCTCAATGTCG	0.607																																						dbGAP											0													94.0	82.0	86.0					11																	3845301		2201	4298	6499	-	-	-	SO:0001819	synonymous_variant	0			AF159615	CCDS7747.1, CCDS44523.1, CCDS58112.1, CCDS58113.1, CCDS73244.1, CCDS73245.1	11p15.4	2014-01-31			ENSG00000148985	ENSG00000148985			17893	protein-coding gene	gene with protein product	"""FGF receptor activating protein 1"", ""cell wall biogenesis 43 N-terminal homolog (S. cerevisiae)"""	615187	"""mental retardation, non-syndromic, autosomal recessive, 21"""	MRT21		10585768, 16407401, 23561846	Standard	NM_014489		Approved	FRAG1, CWH43-N	uc010qxw.3	Q9UHJ9	OTTHUMG00000012238	ENST00000463452.2:c.354C>A	11.37:g.3845301C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	E9PJG5|H7BXL9|Q6UC77|Q96G66|Q9UF01|Q9Y4N1	Missense_Mutation	SNP	NULL	p.P72T	ENST00000463452.2	37	c.214	CCDS58112.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.26|11.26	1.587680|1.587680	0.28268|0.28268	.|.	.|.	ENSG00000148985|ENSG00000148985	ENST00000459679;ENST00000464906|ENST00000396993;ENST00000532523;ENST00000465307	.|.	.|.	.|.	5.7|5.7	1.61|1.61	0.23674|0.23674	.|.	.|.	.|.	.|.	.|.	T|T	0.46678|0.46678	0.1405|0.1405	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|P;P	.|0.43938	.|0.822;0.483	.|B;B	.|0.43916	.|0.436;0.084	T|T	0.41805|0.41805	-0.9488|-0.9488	4|7	.|0.87932	.|D	.|0	-2.219|-2.219	5.0995|5.0995	0.14753|0.14753	0.0:0.5875:0.1502:0.2623|0.0:0.5875:0.1502:0.2623	.|.	.|122;72	.|B7Z2X5;A8MZF5	.|.;.	D|T	149;209|72;137;122	.|.	.|ENSP00000380190:P72T	A|P	+|+	2|1	0|0	PGAP2|PGAP2	3801877|3801877	1.000000|1.000000	0.71417|0.71417	0.513000|0.513000	0.27749|0.27749	0.965000|0.965000	0.64279|0.64279	2.597000|2.597000	0.46214|0.46214	0.309000|0.309000	0.22966|0.22966	0.650000|0.650000	0.86243|0.86243	GCC|CCT	PGAP2	-	NULL	ENSG00000148985		0.607	PGAP2-049	KNOWN	basic|CCDS	protein_coding	PGAP2	HGNC	protein_coding	OTTHUMT00000383260.1	73	0.00	0	C			3845301	3845301	+1	no_errors	ENST00000396993	ensembl	human	known	69_37n	missense	95	10.19	11	SNP	0.851	A
PGBD1	84547	genome.wustl.edu	37	6	28254875	28254875	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:28254875C>A	ENST00000405948.2	+	4	992	c.572C>A	c.(571-573)tCa>tAa	p.S191*	PGBD1_ENST00000259883.3_Nonsense_Mutation_p.S191*	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	191						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						CCCCACGGATCAGCTCATCTC	0.522																																						dbGAP											0													126.0	105.0	112.0					6																	28254875		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"""-"""	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.572C>A	6.37:g.28254875C>A	ENSP00000385213:p.Ser191*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53F43|Q6NTF5|Q8WWS4	Nonsense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,pfscan_Srcr_rcpt,pfscan_Tscrpt_reg_SCAN	p.S191*	ENST00000405948.2	37	c.572	CCDS4648.1	6	.	.	.	.	.	.	.	.	.	.	C	29.1	4.979862	0.92982	.	.	ENSG00000137338	ENST00000405948;ENST00000259883	.	.	.	4.23	-1.45	0.08828	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-24.0101	3.9697	0.09447	0.1609:0.3973:0.0:0.4418	.	.	.	.	X	191	.	ENSP00000259883:S191X	S	+	2	0	PGBD1	28362854	0.000000	0.05858	0.005000	0.12908	0.239000	0.25481	-0.249000	0.08842	-0.448000	0.07128	-0.345000	0.07892	TCA	PGBD1	-	NULL	ENSG00000137338		0.522	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PGBD1	HGNC	protein_coding	OTTHUMT00000040188.2	88	0.00	0	C			28254875	28254875	+1	no_errors	ENST00000259883	ensembl	human	known	69_37n	nonsense	62	27.91	24	SNP	0.000	A
PGBD5	79605	genome.wustl.edu	37	1	230459353	230459353	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:230459353G>A	ENST00000525115.1	-	7	1209	c.1186C>T	c.(1186-1188)Cat>Tat	p.H396Y	PGBD5_ENST00000321327.2_Missense_Mutation_p.H495Y|PGBD5_ENST00000391860.1_Missense_Mutation_p.H350Y|PGBD5_ENST00000530424.1_5'UTR			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	396						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		TTTGGTTTATGAGAAATGAAA	0.532																																						dbGAP											0													104.0	104.0	104.0					1																	230459353		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK021475		1q42.13	2008-02-05			ENSG00000177614	ENSG00000177614			19405	protein-coding gene	gene with protein product							Standard	NM_001258311		Approved	DKFZp761A0620, FLJ11413	uc031psq.1	Q8N414	OTTHUMG00000037759	ENST00000525115.1:c.1186C>T	1.37:g.230459353G>A	ENSP00000431404:p.His396Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJF3|B9EK58|Q5SR37|Q6PJN2	Missense_Mutation	SNP	NULL	p.H495Y	ENST00000525115.1	37	c.1483		1	.	.	.	.	.	.	.	.	.	.	G	9.435	1.086480	0.20390	.	.	ENSG00000177614	ENST00000391860;ENST00000321327;ENST00000525115	T;T;T	0.16897	2.31;2.31;2.31	5.57	5.57	0.84162	.	0.060440	0.64402	D	0.000003	T	0.25158	0.0611	N	0.12182	0.205	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	T	0.16958	-1.0385	10	0.16896	T	0.51	-31.53	19.5939	0.95526	0.0:0.0:1.0:0.0	.	396;86	Q8N414;B4DM72	PGBD5_HUMAN;.	Y	350;495;396	ENSP00000375733:H350Y;ENSP00000322530:H495Y;ENSP00000431404:H396Y	ENSP00000322530:H495Y	H	-	1	0	PGBD5	228525976	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	9.848000	0.99507	2.631000	0.89168	0.650000	0.86243	CAT	PGBD5	-	NULL	ENSG00000177614		0.532	PGBD5-002	PUTATIVE	basic|exp_conf	protein_coding	PGBD5	HGNC	protein_coding	OTTHUMT00000382617.1	65	0.00	0	G	NM_024554		230459353	230459353	-1	no_errors	ENST00000321327	ensembl	human	known	69_37n	missense	42	58.82	60	SNP	1.000	A
PGBD5	79605	genome.wustl.edu	37	1	230492712	230492712	+	Silent	SNP	G	G	C	rs533232274		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:230492712G>C	ENST00000525115.1	-	2	503	c.480C>G	c.(478-480)ctC>ctG	p.L160L	PGBD5_ENST00000321327.2_Silent_p.L259L|PGBD5_ENST00000391860.1_Silent_p.L114L			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	160						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		GGACCTTGTAGAGCCCGTGCG	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		20545	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													84.0	76.0	78.0					1																	230492712		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK021475		1q42.13	2008-02-05			ENSG00000177614	ENSG00000177614			19405	protein-coding gene	gene with protein product							Standard	NM_001258311		Approved	DKFZp761A0620, FLJ11413	uc031psq.1	Q8N414	OTTHUMG00000037759	ENST00000525115.1:c.480C>G	1.37:g.230492712G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJF3|B9EK58|Q5SR37|Q6PJN2	Silent	SNP	NULL	p.L259	ENST00000525115.1	37	c.777		1																																																																																			PGBD5	-	NULL	ENSG00000177614		0.622	PGBD5-002	PUTATIVE	basic|exp_conf	protein_coding	PGBD5	HGNC	protein_coding	OTTHUMT00000382617.1	30	0.00	0	G	NM_024554		230492712	230492712	-1	no_errors	ENST00000321327	ensembl	human	known	69_37n	silent	57	12.31	8	SNP	1.000	C
PGD	5226	genome.wustl.edu	37	1	10468137	10468137	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:10468137C>G	ENST00000270776.8	+	6	497	c.459C>G	c.(457-459)atC>atG	p.I153M	PGD_ENST00000538557.1_Missense_Mutation_p.I140M|PGD_ENST00000541529.1_Missense_Mutation_p.I131M	NM_002631.2	NP_002622.2	P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	153					carbohydrate metabolic process (GO:0005975)|D-gluconate metabolic process (GO:0019521)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	NADP binding (GO:0050661)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-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;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)	Dacarbazine(DB00851)|Furosemide(DB00695)|Gadopentetate dimeglumine(DB00789)|Ketotifen(DB00920)|Meloxicam(DB00814)|Methotrexate(DB00563)|Ritodrine(DB00867)	GGCCCCACATCAAGACCATCT	0.493																																						dbGAP											0													196.0	194.0	195.0					1																	10468137		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC000368	CCDS113.1	1p36.22	2012-10-02			ENSG00000142657	ENSG00000142657	1.1.1.43		8891	protein-coding gene	gene with protein product		172200					Standard	NM_002631		Approved		uc001arc.3	P52209	OTTHUMG00000001905	ENST00000270776.8:c.459C>G	1.37:g.10468137C>G	ENSP00000270776:p.Ile153Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2Y9|B4DQJ8|Q9BWD8	Missense_Mutation	SNP	pfam_6PGDH_C,pfam_6PGDH_NADP-bd,superfamily_6-PGluconate_DH_C-like,tigrfam_6PGDH_decarbox	p.I153M	ENST00000270776.8	37	c.459	CCDS113.1	1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.076804	0.36662	.	.	ENSG00000142657	ENST00000541529;ENST00000543846;ENST00000270776;ENST00000538557	T;T;T	0.47869	0.85;0.84;0.83	5.06	5.06	0.68205	6-phosphogluconate dehydrogenase, NADP-binding (1);NAD(P)-binding domain (1);	0.130674	0.56097	D	0.000025	T	0.69251	0.3090	M	0.73430	2.235	0.80722	D	1	P;P	0.47962	0.903;0.788	P;D	0.64144	0.49;0.922	T	0.72408	-0.4303	10	0.72032	D	0.01	-17.9001	18.8281	0.92127	0.0:1.0:0.0:0.0	.	131;153	F5H7U0;P52209	.;6PGD_HUMAN	M	131;99;153;140	ENSP00000442285:I131M;ENSP00000270776:I153M;ENSP00000437822:I140M	ENSP00000270776:I153M	I	+	3	3	PGD	10390724	1.000000	0.71417	1.000000	0.80357	0.156000	0.22039	1.300000	0.33436	2.514000	0.84764	0.462000	0.41574	ATC	PGD	-	pfam_6PGDH_NADP-bd,tigrfam_6PGDH_decarbox	ENSG00000142657		0.493	PGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGD	HGNC	protein_coding	OTTHUMT00000005398.1	106	0.00	0	C	NM_002631		10468137	10468137	+1	no_errors	ENST00000270776	ensembl	human	known	69_37n	missense	95	15.93	18	SNP	1.000	G
PGBD5	79605	genome.wustl.edu	37	1	230503869	230503869	+	Intron	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:230503869G>A	ENST00000525115.1	-	1	148				PGBD5_ENST00000321327.2_Missense_Mutation_p.S49F|PGBD5_ENST00000391860.1_Intron			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5							integral component of membrane (GO:0016021)				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		TGACCACACAGATGGTGGTGG	0.502																																						dbGAP											0													104.0	97.0	99.0					1																	230503869		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AK021475		1q42.13	2008-02-05			ENSG00000177614	ENSG00000177614			19405	protein-coding gene	gene with protein product							Standard	NM_001258311		Approved	DKFZp761A0620, FLJ11413	uc031psq.1	Q8N414	OTTHUMG00000037759	ENST00000525115.1:c.124+9374C>T	1.37:g.230503869G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJF3|B9EK58|Q5SR37|Q6PJN2	Missense_Mutation	SNP	NULL	p.S49F	ENST00000525115.1	37	c.146		1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.723722	0.30593	.	.	ENSG00000177614	ENST00000321327	T	0.22743	1.94	1.94	0.921	0.19403	.	6.898060	0.01208	U	0.007770	T	0.21227	0.0511	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25467	-1.0131	7	0.87932	D	0	.	3.9981	0.09568	0.2461:0.0:0.7539:0.0	.	.	.	.	F	49	ENSP00000322530:S49F	ENSP00000322530:S49F	S	-	2	0	PGBD5	228570492	0.001000	0.12720	0.000000	0.03702	0.009000	0.06853	0.501000	0.22578	0.314000	0.23086	0.561000	0.74099	TCT	PGBD5	-	NULL	ENSG00000177614		0.502	PGBD5-002	PUTATIVE	basic|exp_conf	protein_coding	PGBD5	HGNC	protein_coding	OTTHUMT00000382617.1	147	0.00	0	G	NM_024554		230503869	230503869	-1	no_errors	ENST00000321327	ensembl	human	known	69_37n	missense	177	28.92	72	SNP	0.000	A
PGGT1B	5229	genome.wustl.edu	37	5	114557705	114557705	+	Splice_Site	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:114557705C>G	ENST00000419445.1	-	7	679	c.659G>C	c.(658-660)gGa>gCa	p.G220A	PGGT1B_ENST00000514178.1_5'UTR|PGGT1B_ENST00000379615.3_Intron	NM_005023.3	NP_005014.2	P53609	PGTB1_HUMAN	protein geranylgeranyltransferase type I, beta subunit	220	Geranylgeranyl diphosphate binding. {ECO:0000250}.				negative regulation of nitric-oxide synthase biosynthetic process (GO:0051771)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|protein geranylgeranylation (GO:0018344)|response to cytokine (GO:0034097)	CAAX-protein geranylgeranyltransferase complex (GO:0005953)	CAAX-protein geranylgeranyltransferase activity (GO:0004662)|protein geranylgeranyltransferase activity (GO:0004661)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6		all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06)		AGTTGATCCTCCTGTTAATCA	0.323																																						dbGAP											0													80.0	77.0	78.0					5																	114557705		2202	4300	6502	-	-	-	SO:0001630	splice_region_variant	0				CCDS4116.1	5q23.1	2008-02-05			ENSG00000164219	ENSG00000164219			8895	protein-coding gene	gene with protein product		602031				8106351	Standard	NM_005023		Approved	GGTI, BGGI	uc003kqw.4	P53609	OTTHUMG00000128893	ENST00000419445.1:c.659-1G>C	5.37:g.114557705C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5MJP9	Missense_Mutation	SNP	pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase	p.G220A	ENST00000419445.1	37	c.659	CCDS4116.1	5	.	.	.	.	.	.	.	.	.	.	C	21.2	4.107623	0.77096	.	.	ENSG00000164219	ENST00000419445	T	0.41400	1.0	4.86	4.86	0.63082	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);	0.102317	0.64402	D	0.000002	T	0.55449	0.1921	L	0.45285	1.41	0.80722	D	1	D	0.71674	0.998	D	0.70016	0.967	T	0.46610	-0.9179	10	0.21014	T	0.42	-13.9747	18.3496	0.90333	0.0:1.0:0.0:0.0	.	220	P53609	PGTB1_HUMAN	A	220	ENSP00000404676:G220A	ENSP00000404676:G220A	G	-	2	0	PGGT1B	114585604	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.720000	0.84759	2.403000	0.81681	0.585000	0.79938	GGA	PGGT1B	-	pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase	ENSG00000164219		0.323	PGGT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGGT1B	HGNC	protein_coding	OTTHUMT00000250855.2	128	0.00	0	C	NM_005023	Missense_Mutation	114557705	114557705	-1	no_errors	ENST00000419445	ensembl	human	known	69_37n	missense	87	23.01	26	SNP	1.000	G
PGK1	5230	genome.wustl.edu	37	X	77378812	77378812	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:77378812G>C	ENST00000373316.4	+	8	1044	c.877G>C	c.(877-879)Gat>Cat	p.D293H	PGK1_ENST00000537456.1_Missense_Mutation_p.D265H|PGK1_ENST00000442431.1_Missense_Mutation_p.D157H	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	293					carbohydrate metabolic process (GO:0005975)|epithelial cell differentiation (GO:0030855)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24					Lamivudine(DB00709)	TGACAAGTTTGATGAGAATGC	0.478																																						dbGAP											0													82.0	62.0	68.0					X																	77378812		2203	4300	6503	-	-	-	SO:0001583	missense	0			L00159	CCDS14438.1	Xq13.3	2011-03-17			ENSG00000102144	ENSG00000102144	2.7.2.3		8896	protein-coding gene	gene with protein product		311800				6188151, 6099325	Standard	NM_000291		Approved		uc004ecz.4	P00558	OTTHUMG00000021888	ENST00000373316.4:c.877G>C	X.37:g.77378812G>C	ENSP00000362413:p.Asp293His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4W6|B7Z7A9|Q5J7W1|Q6IBT6|Q8NI87	Missense_Mutation	SNP	pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase,prints_Phosphoglycerate_kinase	p.D293H	ENST00000373316.4	37	c.877	CCDS14438.1	X	.	.	.	.	.	.	.	.	.	.	G	24.4	4.528286	0.85706	.	.	ENSG00000102144	ENST00000373316;ENST00000442431;ENST00000450919;ENST00000537456	D;D;D	0.92149	-2.98;-2.98;-2.98	5.28	5.28	0.74379	Phosphoglycerate kinase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96470	0.8848	H	0.94222	3.51	0.51233	D	0.999916	P	0.48834	0.916	P	0.54590	0.756	D	0.97360	0.9969	10	0.62326	D	0.03	-22.7746	17.1035	0.86656	0.0:0.0:1.0:0.0	.	293	P00558	PGK1_HUMAN	H	293;157;118;265	ENSP00000362413:D293H;ENSP00000405452:D157H;ENSP00000444708:D265H	ENSP00000362413:D293H	D	+	1	0	PGK1	77265468	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.344000	0.97050	2.335000	0.79485	0.594000	0.82650	GAT	PGK1	-	pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase	ENSG00000102144		0.478	PGK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGK1	HGNC	protein_coding	OTTHUMT00000057310.1	64	0.00	0	G			77378812	77378812	+1	no_errors	ENST00000373316	ensembl	human	known	69_37n	missense	58	23.68	18	SNP	1.000	C
PGLS	25796	genome.wustl.edu	37	19	17631762	17631762	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:17631762G>C	ENST00000252603.2	+	5	693	c.649G>C	c.(649-651)Gag>Cag	p.E217Q	FAM129C_ENST00000595684.1_5'Flank|CTD-3131K8.3_ENST00000596192.1_RNA|FAM129C_ENST00000335393.4_5'Flank|FAM129C_ENST00000352727.3_5'Flank|FAM129C_ENST00000332386.5_5'Flank|FAM129C_ENST00000300971.2_5'Flank	NM_012088.2	NP_036220.1	O95336	6PGL_HUMAN	6-phosphogluconolactonase	217					carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	6-phosphogluconolactonase activity (GO:0017057)|monosaccharide binding (GO:0048029)			endometrium(1)|lung(1)	2						GCGCATTTTGGAGGACCAGGA	0.652																																						dbGAP											0													27.0	26.0	27.0					19																	17631762		2199	4298	6497	-	-	-	SO:0001583	missense	0			AJ243972	CCDS12361.1	19p13.2	2008-02-05				ENSG00000130313	3.1.1.31		8903	protein-coding gene	gene with protein product		604951				10518023	Standard	NM_012088		Approved	6PGL	uc002ngw.3	O95336		ENST00000252603.2:c.649G>C	19.37:g.17631762G>C	ENSP00000252603:p.Glu217Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	tigrfam_6-phosphogluconolactonase_DevB	p.E217Q	ENST00000252603.2	37	c.649	CCDS12361.1	19	.	.	.	.	.	.	.	.	.	.	G	14.79	2.641934	0.47153	.	.	ENSG00000130313	ENST00000252603	.	.	.	5.3	5.3	0.74995	6-phosphogluconolactonase, DevB-type (1);	0.052302	0.85682	D	0.000000	T	0.59742	0.2216	M	0.62016	1.91	0.42207	D	0.991799	B	0.29766	0.256	B	0.33960	0.173	T	0.57493	-0.7802	9	0.27785	T	0.31	-26.6045	12.2059	0.54353	0.0:0.1722:0.8278:0.0	.	217	O95336	6PGL_HUMAN	Q	217	.	ENSP00000252603:E217Q	E	+	1	0	PGLS	17492762	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	4.488000	0.60300	2.482000	0.83794	0.484000	0.47621	GAG	PGLS	-	tigrfam_6-phosphogluconolactonase_DevB	ENSG00000130313		0.652	PGLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGLS	HGNC	protein_coding	OTTHUMT00000464154.1	42	0.00	0	G			17631762	17631762	+1	no_errors	ENST00000252603	ensembl	human	known	69_37n	missense	26	29.73	11	SNP	1.000	C
PGLYRP4	57115	genome.wustl.edu	37	1	153318658	153318658	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:153318658G>T	ENST00000359650.5	-	3	123	c.59C>A	c.(58-60)tCc>tAc	p.S20Y	PGLYRP4_ENST00000368739.3_Missense_Mutation_p.S20Y|PGLYRP4_ENST00000490266.1_5'UTR	NM_020393.2	NP_065126.2	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	20					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TTTGTTCCAGGAGGAATCACC	0.473																																						dbGAP											0													228.0	225.0	226.0					1																	153318658		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF242518	CCDS30871.1	1q21	2008-02-05			ENSG00000163218	ENSG00000163218			30015	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein I beta precursor"""	608198				11461926	Standard	XR_241090		Approved	SBBI67, PGRPIB, PGLYRPIbeta, PGRP-Ibeta	uc001fbo.3	Q96LB8	OTTHUMG00000037057	ENST00000359650.5:c.59C>A	1.37:g.153318658G>T	ENSP00000352672:p.Ser20Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K838|Q3B822|Q3B823|Q5SY63|Q5SY64|Q9HD75	Missense_Mutation	SNP	pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain	p.S20Y	ENST00000359650.5	37	c.59	CCDS30871.1	1	.	.	.	.	.	.	.	.	.	.	G	11.57	1.676682	0.29783	.	.	ENSG00000163218	ENST00000368739;ENST00000359650	T;T	0.06142	3.34;3.34	3.25	2.34	0.29019	.	.	.	.	.	T	0.01454	0.0047	N	0.08118	0	0.21386	N	0.999701	B;B	0.25743	0.133;0.082	B;B	0.35470	0.203;0.1	T	0.47724	-0.9095	9	0.66056	D	0.02	-11.0214	6.6822	0.23127	0.1332:0.0:0.8668:0.0	.	20;20	Q96LB8-2;Q96LB8	.;PGRP4_HUMAN	Y	20	ENSP00000357728:S20Y;ENSP00000352672:S20Y	ENSP00000352672:S20Y	S	-	2	0	PGLYRP4	151585282	0.097000	0.21791	0.372000	0.25991	0.540000	0.34992	0.467000	0.22035	0.917000	0.36895	-0.448000	0.05591	TCC	PGLYRP4	-	NULL	ENSG00000163218		0.473	PGLYRP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PGLYRP4	HGNC	protein_coding	OTTHUMT00000089978.1	203	0.00	0	G	NM_020393		153318658	153318658	-1	no_errors	ENST00000359650	ensembl	human	known	69_37n	missense	152	44.32	121	SNP	0.514	T
PGM5P2	595135	genome.wustl.edu	37	9	69117825	69117825	+	RNA	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:69117825G>C	ENST00000591037.1	-	0	769					NR_002836.2				phosphoglucomutase 5 pseudogene 2																		AGGAGGTTAAGATAGATATCC	0.413																																						dbGAP											0																																										-	-	-			0			BC007887, BC025351		9q12	2014-01-23			ENSG00000227558	ENSG00000277778			18965	pseudogene	pseudogene						12421752, 15233989	Standard	NR_002836		Approved		uc004aff.4		OTTHUMG00000013322		9.37:g.69117825G>C		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000591037.1	37	NULL		9																																																																																			PGM5P2	-	-	ENSG00000227558		0.413	PGM5P2-002	KNOWN	basic	processed_transcript	PGM5P2	HGNC	pseudogene	OTTHUMT00000460890.1	110	0.00	0	G	NR_002836		69117825	69117825	-1	no_errors	ENST00000591037	ensembl	human	known	69_37n	rna	95	17.39	20	SNP	1.000	C
PHACTR2	9749	genome.wustl.edu	37	6	144086657	144086657	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:144086657G>T	ENST00000427704.2	+	6	1051	c.921G>T	c.(919-921)caG>caT	p.Q307H	PHACTR2_ENST00000440869.2_Missense_Mutation_p.Q318H|PHACTR2_ENST00000305766.6_Missense_Mutation_p.Q227H|PHACTR2_ENST00000367582.3_Missense_Mutation_p.Q238H|PHACTR2_ENST00000367584.4_Missense_Mutation_p.Q295H	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	307							protein phosphatase inhibitor activity (GO:0004864)			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		AACTCGAACAGACTGTCCCTG	0.557																																					Pancreas(12;292 433 7358 48260 52635)|Ovarian(20;501 618 3485 36581 49208)	dbGAP											0													81.0	89.0	86.0					6																	144086657		2020	4186	6206	-	-	-	SO:0001583	missense	0			AB014580	CCDS43512.1, CCDS47492.1, CCDS47493.1, CCDS47494.1	6q24.1	2013-01-24	2004-05-20	2004-05-20	ENSG00000112419	ENSG00000112419		"""Phosphatase and actin regulators"""	20956	protein-coding gene	gene with protein product		608724	"""chromosome 6 open reading frame 56"""	C6orf56		9734811, 15107502	Standard	NM_001100164		Approved	KIAA0680	uc010khi.3	O75167	OTTHUMG00000015732	ENST00000427704.2:c.921G>T	6.37:g.144086657G>T	ENSP00000391763:p.Gln307His	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKP5|A7MCZ5|A8MZC0|B2RWP7|B4DN76|B4DPB5|B4DTH7|Q5TFA0|Q68DM2	Missense_Mutation	SNP	pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat	p.Q318H	ENST00000427704.2	37	c.954	CCDS47492.1	6	.	.	.	.	.	.	.	.	.	.	G	10.60	1.395081	0.25205	.	.	ENSG00000112419	ENST00000367584;ENST00000427704;ENST00000305766;ENST00000440869;ENST00000367582	T;T;T;T;T	0.33216	1.42;1.76;1.44;1.75;1.44	5.22	0.246	0.15516	.	0.910095	0.09654	N	0.773268	T	0.14700	0.0355	L	0.43152	1.355	0.09310	N	1	P;P;P;P	0.41569	0.755;0.729;0.729;0.61	P;B;B;B	0.44946	0.465;0.351;0.351;0.191	T	0.18366	-1.0339	10	0.41790	T	0.15	.	9.3179	0.37946	0.4629:0.0:0.5371:0.0	.	318;227;238;307	O75167-4;O75167-5;O75167-2;O75167	.;.;.;PHAR2_HUMAN	H	295;307;227;318;238	ENSP00000356556:Q295H;ENSP00000391763:Q307H;ENSP00000305530:Q227H;ENSP00000417038:Q318H;ENSP00000356554:Q238H	ENSP00000305530:Q227H	Q	+	3	2	PHACTR2	144128350	0.249000	0.23941	0.630000	0.29268	0.282000	0.26991	0.137000	0.15995	0.203000	0.20529	0.655000	0.94253	CAG	PHACTR2	-	NULL	ENSG00000112419		0.557	PHACTR2-001	KNOWN	basic|CCDS	protein_coding	PHACTR2	HGNC	protein_coding	OTTHUMT00000042528.2	61	0.00	0	G	NM_014721		144086657	144086657	+1	no_errors	ENST00000440869	ensembl	human	known	69_37n	missense	57	21.92	16	SNP	0.017	T
PHACTR3	116154	genome.wustl.edu	37	20	58348347	58348347	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:58348347C>G	ENST00000371015.1	+	6	1232	c.765C>G	c.(763-765)ctC>ctG	p.L255L	PHACTR3_ENST00000395639.4_Silent_p.L144L|PHACTR3_ENST00000359926.3_Silent_p.L252L|PHACTR3_ENST00000395636.2_Silent_p.L214L|PHACTR3_ENST00000541461.1_Silent_p.L214L|PHACTR3_ENST00000355648.4_Silent_p.L214L|PHACTR3_ENST00000361300.4_Silent_p.L144L	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	255						nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			AAGCCACACTCTTCCAAGCCT	0.617																																						dbGAP											0													84.0	87.0	86.0					20																	58348347		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"""Phosphatase and actin regulators"""	15833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 123"""	608725	"""chromosome 20 open reading frame 101"""	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.765C>G	20.37:g.58348347C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Silent	SNP	pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat	p.L255	ENST00000371015.1	37	c.765	CCDS13480.1	20																																																																																			PHACTR3	-	NULL	ENSG00000087495		0.617	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHACTR3	HGNC	protein_coding	OTTHUMT00000079923.3	34	0.00	0	C	NM_080672		58348347	58348347	+1	no_errors	ENST00000371015	ensembl	human	known	69_37n	silent	55	12.70	8	SNP	1.000	G
PHF11	51131	genome.wustl.edu	37	13	50097325	50097325	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr13:50097325G>C	ENST00000378319.3	+	7	626	c.585G>C	c.(583-585)atG>atC	p.M195I	PHF11_ENST00000460489.1_3'UTR|PHF11_ENST00000488958.1_Missense_Mutation_p.M156I|PHF11_ENST00000357596.3_Missense_Mutation_p.M156I	NM_001040443.1	NP_001035533.1	Q9UIL8	PHF11_HUMAN	PHD finger protein 11	195					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			large_intestine(3)|lung(1)	4		Lung NSC(96;2.1e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.38e-09)		CCGAAACAATGAAATGTAATA	0.343																																						dbGAP											0													80.0	73.0	76.0					13																	50097325		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011031	CCDS31975.1, CCDS41887.1	13q14.11	2014-05-20			ENSG00000136147	ENSG00000136147		"""Zinc fingers, PHD-type"""	17024	protein-coding gene	gene with protein product	"""IgE responsiveness (atopic)"""	607796				10508479, 15057823	Standard	XM_005266417		Approved	NY-REN-34, BCAP, IGER	uc001vdb.3	Q9UIL8	OTTHUMG00000016916	ENST00000378319.3:c.585G>C	13.37:g.50097325G>C	ENSP00000367570:p.Met195Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5W0A4|Q5W0A6|Q9Y5A2	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD,smart_Znf_PHD	p.M195I	ENST00000378319.3	37	c.585	CCDS31975.1	13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.546|9.546	1.114561|1.114561	0.20795|0.20795	.|.	.|.	ENSG00000136147|ENSG00000136147	ENST00000378319;ENST00000496612;ENST00000357596;ENST00000442195;ENST00000488958|ENST00000426879	T;T;T;T;T|.	0.72725|.	-0.67;-0.29;-0.65;-0.68;-0.65|.	3.95|3.95	2.02|2.02	0.26589|0.26589	.|.	1.224770|.	0.05682|.	N|.	0.590514|.	T|.	0.38639|.	0.1048|.	L|L	0.52573|0.52573	1.65|1.65	0.09310|0.09310	N|N	1|1	B|.	0.26318|.	0.146|.	B|.	0.18871|.	0.023|.	T|.	0.26608|.	-1.0098|.	10|.	0.38643|.	T|.	0.18|.	0.0069|0.0069	5.1221|5.1221	0.14865|0.14865	0.2978:0.0:0.7022:0.0|0.2978:0.0:0.7022:0.0	.|.	195|.	Q9UIL8|.	PHF11_HUMAN|.	I|S	195;127;156;156;156|150	ENSP00000367570:M195I;ENSP00000419229:M127I;ENSP00000350209:M156I;ENSP00000405227:M156I;ENSP00000417539:M156I|.	ENSP00000350209:M156I|.	M|X	+|+	3|2	0|2	PHF11|PHF11	48995326|48995326	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.032000|0.032000	0.12392|0.12392	0.232000|0.232000	0.17891|0.17891	0.881000|0.881000	0.35993|0.35993	0.462000|0.462000	0.41574|0.41574	ATG|TGA	PHF11	-	NULL	ENSG00000136147		0.343	PHF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PHF11	HGNC	protein_coding	OTTHUMT00000044915.1	61	0.00	0	G	NM_016119		50097325	50097325	+1	no_errors	ENST00000378319	ensembl	human	known	69_37n	missense	32	51.52	34	SNP	0.000	C
PHF12	57649	genome.wustl.edu	37	17	27237210	27237210	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:27237210C>G	ENST00000577226.1	-	11	2739	c.2393G>C	c.(2392-2394)aGa>aCa	p.R798T	PHF12_ENST00000332830.4_Intron|PHF12_ENST00000582655.1_5'UTR					PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			GAGGGGAGATCTGATGATGTG	0.527																																						dbGAP											0													123.0	111.0	115.0					17																	27237210		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"""Zinc fingers, PHD-type"""	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000577226.1:c.2393G>C	17.37:g.27237210C>G	ENSP00000465161:p.Arg798Thr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.R798T	ENST00000577226.1	37	c.2393		17	.	.	.	.	.	.	.	.	.	.	C	9.577	1.122452	0.20877	.	.	ENSG00000109118	ENST00000378879	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	T	0.55401	0.1918	.	.	.	0.80722	D	1	B;B	0.13594	0.008;0.002	B;B	0.12156	0.007;0.007	T	0.54827	-0.8235	7	0.62326	D	0.03	.	13.8662	0.63590	0.0:1.0:0.0:0.0	.	798;798	Q2TAK2;C9J9G2	.;.	T	798	.	ENSP00000368157:R798T	R	-	2	0	PHF12	24261336	0.001000	0.12720	0.202000	0.23494	0.012000	0.07955	0.568000	0.23623	2.727000	0.93392	0.655000	0.94253	AGA	PHF12	-	NULL	ENSG00000109118		0.527	PHF12-004	PUTATIVE	basic	protein_coding	PHF12	HGNC	protein_coding	OTTHUMT00000446737.3	53	0.00	0	C	NM_020889		27237210	27237210	-1	no_errors	ENST00000577226	ensembl	human	putative	69_37n	missense	52	23.53	16	SNP	0.211	G
PHF14	9678	genome.wustl.edu	37	7	11091322	11091322	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:11091322G>A	ENST00000403050.3	+	14	2848	c.2396G>A	c.(2395-2397)cGa>cAa	p.R799Q	PHF14_ENST00000445996.2_Missense_Mutation_p.R514Q	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	799					lung alveolus development (GO:0048286)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of platelet-derived growth factor receptor-alpha signaling pathway (GO:2000584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		GGAACCAAACGATCAAGGAGG	0.458																																						dbGAP											0													68.0	68.0	68.0					7																	11091322		1967	4147	6114	-	-	-	SO:0001583	missense	0			AB018326	CCDS47542.1	7p21.3	2013-01-28			ENSG00000106443	ENSG00000106443		"""Zinc fingers, PHD-type"""	22203	protein-coding gene	gene with protein product						9872452	Standard	NM_014660		Approved	KIAA0783	uc003sry.2	O94880	OTTHUMG00000150463	ENST00000403050.3:c.2396G>A	7.37:g.11091322G>A	ENSP00000385795:p.Arg799Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MCZ3|B4DI82	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.R799Q	ENST00000403050.3	37	c.2396	CCDS47542.1	7	.	.	.	.	.	.	.	.	.	.	G	31	5.094844	0.94197	.	.	ENSG00000106443	ENST00000403050;ENST00000445996	T;T	0.72282	-0.26;-0.64	5.18	4.29	0.51040	.	0.000000	0.85682	D	0.000000	T	0.70771	0.3262	L	0.29908	0.895	0.58432	D	0.999998	D;D;D;D	0.71674	0.996;0.993;0.997;0.998	P;B;P;P	0.54174	0.564;0.361;0.715;0.744	T	0.75363	-0.3344	10	0.72032	D	0.01	.	16.1047	0.81212	0.0:0.1341:0.8659:0.0	.	514;514;799;799	O94880-2;B4DG57;A8MSQ1;O94880	.;.;.;PHF14_HUMAN	Q	799;514	ENSP00000385795:R799Q;ENSP00000403907:R514Q	ENSP00000385795:R799Q	R	+	2	0	PHF14	11057847	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.753000	0.98904	1.291000	0.44653	0.650000	0.86243	CGA	PHF14	-	NULL	ENSG00000106443		0.458	PHF14-001	KNOWN	basic|CCDS	protein_coding	PHF14	HGNC	protein_coding	OTTHUMT00000318212.1	82	0.00	0	G	NM_014660		11091322	11091322	+1	no_errors	ENST00000403050	ensembl	human	known	69_37n	missense	45	16.67	9	SNP	1.000	A
JADE3	9767	genome.wustl.edu	37	X	46917722	46917722	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:46917722C>G	ENST00000218343.4	+	11	2013	c.1715C>G	c.(1714-1716)tCt>tGt	p.S572C	PHF16_ENST00000397189.1_Missense_Mutation_p.S572C	NM_014735.3	NP_055550.1														NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						AGCAGCTCATCTGTTCACAGT	0.458																																						dbGAP											0													108.0	88.0	95.0					X																	46917722		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000218343.4:c.1715C>G	X.37:g.46917722C>G	ENSP00000218343:p.Ser572Cys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.S572C	ENST00000218343.4	37	c.1715	CCDS14271.1	X	.	.	.	.	.	.	.	.	.	.	C	11.23	1.578200	0.28180	.	.	ENSG00000102221	ENST00000397189;ENST00000218343	T;T	0.51574	0.7;0.7	5.88	5.02	0.67125	.	2.018650	0.02628	N	0.103967	T	0.35828	0.0945	N	0.08118	0	0.23903	N	0.99651	P	0.39624	0.681	B	0.35971	0.215	T	0.51060	-0.8753	10	0.56958	D	0.05	.	14.034	0.64634	0.0:0.926:0.0:0.074	.	572	Q92613	JADE3_HUMAN	C	572	ENSP00000380373:S572C;ENSP00000218343:S572C	ENSP00000218343:S572C	S	+	2	0	PHF16	46802666	0.039000	0.19947	0.732000	0.30844	0.741000	0.42261	2.236000	0.43052	1.230000	0.43646	0.600000	0.82982	TCT	PHF16	-	NULL	ENSG00000102221		0.458	PHF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF16	HGNC	protein_coding	OTTHUMT00000056376.1	133	0.00	0	C			46917722	46917722	+1	no_errors	ENST00000218343	ensembl	human	known	69_37n	missense	112	18.84	26	SNP	0.982	G
PHF20	51230	genome.wustl.edu	37	20	34459740	34459740	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:34459740C>T	ENST00000374012.3	+	9	1400	c.1271C>T	c.(1270-1272)tCg>tTg	p.S424L	PHF20_ENST00000439301.1_3'UTR|PHF20_ENST00000481202.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	424					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.S424L(1)		breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					CAAGAGATTTCGACTGTGGAA	0.378																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											82.0	85.0	84.0					20																	34459740		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL109965	CCDS13268.1	20q11.22-q11.23	2013-01-28	2004-12-01	2004-12-01	ENSG00000025293	ENSG00000025293		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	16098	protein-coding gene	gene with protein product	"""tudor domain containing 20A"""	610335	"""chromosome 20 open reading frame 104"""	C20orf104			Standard	NM_016436		Approved	dJ1121G12.1, TDRD20A	uc002xek.1	Q9BVI0	OTTHUMG00000032367	ENST00000374012.3:c.1271C>T	20.37:g.34459740C>T	ENSP00000363124:p.Ser424Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22	Missense_Mutation	SNP	pfam_DUF3776,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_C2H2	p.S424L	ENST00000374012.3	37	c.1271	CCDS13268.1	20	.	.	.	.	.	.	.	.	.	.	C	13.39	2.222971	0.39300	.	.	ENSG00000025293	ENST00000374012;ENST00000339089;ENST00000374000	T;T;T	0.58060	1.12;0.36;0.36	5.56	5.56	0.83823	.	0.256554	0.33610	N	0.004735	T	0.48040	0.1478	L	0.46157	1.445	0.80722	D	1	P;D	0.59357	0.897;0.985	B;B	0.42386	0.122;0.386	T	0.48525	-0.9028	10	0.40728	T	0.16	.	15.0108	0.71547	0.0:1.0:0.0:0.0	.	424;424	Q9BVI0;Q66K49	PHF20_HUMAN;.	L	424	ENSP00000363124:S424L;ENSP00000341900:S424L;ENSP00000363112:S424L	ENSP00000341900:S424L	S	+	2	0	PHF20	33923154	0.991000	0.36638	0.924000	0.36721	0.107000	0.19398	3.776000	0.55356	2.617000	0.88574	0.591000	0.81541	TCG	PHF20	-	NULL	ENSG00000025293		0.378	PHF20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF20	HGNC	protein_coding	OTTHUMT00000078949.2	67	0.00	0	C	NM_016436		34459740	34459740	+1	no_errors	ENST00000374012	ensembl	human	known	69_37n	missense	68	17.07	14	SNP	0.982	T
PHF21A	51317	genome.wustl.edu	37	11	45986874	45986874	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:45986874C>G	ENST00000418153.2	-	9	1184	c.985G>C	c.(985-987)Gaa>Caa	p.E329Q	PHF21A_ENST00000257821.4_Missense_Mutation_p.E330Q|PHF21A_ENST00000527753.1_5'UTR|PHF21A_ENST00000323180.6_Missense_Mutation_p.E330Q			Q96BD5	PF21A_HUMAN	PHD finger protein 21A	329					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						ACCTGTTTTTCAAGACTTGGC	0.507											OREG0020936	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													53.0	46.0	48.0					11																	45986874		2202	4299	6501	-	-	-	SO:0001583	missense	0			AL359593	CCDS31474.1, CCDS44578.1	11p11.2	2013-01-28			ENSG00000135365	ENSG00000135365		"""Zinc fingers, PHD-type"""	24156	protein-coding gene	gene with protein product		608325				11214970, 12032298	Standard	NM_001101802		Approved	BHC80, KIAA1696, BM-006	uc001ncc.4	Q96BD5	OTTHUMG00000167038	ENST00000418153.2:c.985G>C	11.37:g.45986874C>G	ENSP00000398824:p.Glu329Gln	Somatic	935	WXS	Illumina GAIIx	Phase_IV	D3DQP5|Q6AWA2|Q9C0G7|Q9H8V9|Q9HAK6|Q9NZE9	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.E330Q	ENST00000418153.2	37	c.988	CCDS44578.1	11	.	.	.	.	.	.	.	.	.	.	C	21.7	4.192963	0.78902	.	.	ENSG00000135365	ENST00000257821;ENST00000323180;ENST00000418153	T;T;T	0.61510	0.1;0.1;0.1	6.17	6.17	0.99709	.	0.259165	0.44285	D	0.000462	T	0.69088	0.3072	L	0.39898	1.24	0.58432	D	0.999992	D;D;D	0.71674	0.985;0.998;0.996	P;D;D	0.75484	0.836;0.954;0.986	T	0.58329	-0.7655	10	0.16420	T	0.52	-10.2081	20.8794	0.99867	0.0:1.0:0.0:0.0	.	329;330;330	Q96BD5;Q96BD5-2;Q96BD5-3	PF21A_HUMAN;.;.	Q	330;330;329	ENSP00000257821:E330Q;ENSP00000323152:E330Q;ENSP00000398824:E329Q	ENSP00000257821:E330Q	E	-	1	0	PHF21A	45943450	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.766000	0.68843	2.941000	0.99782	0.655000	0.94253	GAA	PHF21A	-	NULL	ENSG00000135365		0.507	PHF21A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHF21A	HGNC	protein_coding	OTTHUMT00000392583.1	68	0.00	0	C	NM_016621		45986874	45986874	-1	no_errors	ENST00000257821	ensembl	human	known	69_37n	missense	86	18.87	20	SNP	1.000	G
PHF3	23469	genome.wustl.edu	37	6	64394966	64394966	+	Nonsense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:64394966C>G	ENST00000262043.3	+	4	1683	c.1343C>G	c.(1342-1344)tCa>tGa	p.S448*	PHF3_ENST00000509330.1_Nonsense_Mutation_p.S448*|PHF3_ENST00000393387.1_Nonsense_Mutation_p.S448*			Q92576	PHF3_HUMAN	PHD finger protein 3	448					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GACCAAAATTCAAAACAGTTG	0.358																																					GBM(135;136 1820 29512 34071 46235)	dbGAP											0													75.0	83.0	80.0					6																	64394966		2202	4299	6501	-	-	-	SO:0001587	stop_gained	0			AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.1343C>G	6.37:g.64394966C>G	ENSP00000262043:p.Ser448*	Somatic		WXS	Illumina GAIIx	Phase_IV	A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Nonsense_Mutation	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger	p.S448*	ENST00000262043.3	37	c.1343	CCDS4966.1	6	.	.	.	.	.	.	.	.	.	.	C	15.19	2.760637	0.49468	.	.	ENSG00000118482	ENST00000506783;ENST00000481385;ENST00000262043;ENST00000494284;ENST00000509330;ENST00000393387	.	.	.	5.72	2.01	0.26516	.	0.959545	0.08446	N	0.944651	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	-0.746	4.8945	0.13744	0.1394:0.4907:0.0:0.3699	.	.	.	.	X	262;360;448;401;448;448	.	ENSP00000262043:S448X	S	+	2	0	PHF3	64452925	0.789000	0.28775	0.276000	0.24689	0.504000	0.33889	0.119000	0.15626	0.358000	0.24211	0.591000	0.81541	TCA	PHF3	-	NULL	ENSG00000118482		0.358	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF3	HGNC	protein_coding	OTTHUMT00000041086.2	33	0.00	0	C			64394966	64394966	+1	no_errors	ENST00000262043	ensembl	human	known	69_37n	nonsense	36	26.53	13	SNP	0.007	G
PHF7	51533	genome.wustl.edu	37	3	52456828	52456828	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:52456828G>C	ENST00000327906.3	+	10	1510	c.850G>C	c.(850-852)Gac>Cac	p.D284H	PHF7_ENST00000347025.2_Missense_Mutation_p.D245H	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7	284						Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		AACCCACAGGGACTGCTCCTC	0.562																																						dbGAP											0													127.0	123.0	124.0					3																	52456828		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY014283	CCDS2854.1, CCDS2855.1	3p21.31	2013-01-28			ENSG00000010318	ENSG00000010318		"""Zinc fingers, PHD-type"""	18458	protein-coding gene	gene with protein product						11042152, 11829468	Standard	NM_016483		Approved	NYD-SP6, HSPC226	uc003ddy.3	Q9BWX1	OTTHUMG00000158495	ENST00000327906.3:c.850G>C	3.37:g.52456828G>C	ENSP00000333024:p.Asp284His	Somatic		WXS	Illumina GAIIx	Phase_IV	K4DI82	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_RING	p.D284H	ENST00000327906.3	37	c.850	CCDS2854.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.64|14.64	2.597220|2.597220	0.46318|0.46318	.|.	.|.	ENSG00000010318|ENSG00000010318	ENST00000478707;ENST00000327906;ENST00000347025;ENST00000394916|ENST00000454052	T;T;T|.	0.43294|.	0.95;0.95;0.95|.	6.05|6.05	4.26|4.26	0.50523|0.50523	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);|.	0.610776|.	0.19133|.	N|.	0.121892|.	T|T	0.39436|0.39436	0.1078|0.1078	N|N	0.19112|0.19112	0.55|0.55	0.31980|0.31980	N|N	0.606009|0.606009	P;P|.	0.34780|.	0.468;0.468|.	B;B|.	0.32289|.	0.143;0.143|.	T|T	0.52866|0.52866	-0.8518|-0.8518	10|6	0.40728|0.87932	T|D	0.16|0	-18.6587|-18.6587	9.6412|9.6412	0.39839|0.39839	0.1631:0.0:0.8369:0.0|0.1631:0.0:0.8369:0.0	.|.	284;284|.	A8K856;Q9BWX1|.	.;PHF7_HUMAN|.	H|A	284;284;245;193|209	ENSP00000419316:D284H;ENSP00000333024:D284H;ENSP00000246282:D245H|.	ENSP00000333024:D284H|ENSP00000399257:G209A	D|G	+|+	1|2	0|0	PHF7|PHF7	52431868|52431868	0.041000|0.041000	0.20044|0.20044	1.000000|1.000000	0.80357|0.80357	0.593000|0.593000	0.36681|0.36681	0.703000|0.703000	0.25646|0.25646	1.579000|1.579000	0.49836|0.49836	-0.140000|-0.140000	0.14226|0.14226	GAC|GGA	PHF7	-	superfamily_Znf_FYVE_PHD,smart_Znf_PHD	ENSG00000010318		0.562	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF7	HGNC	protein_coding	OTTHUMT00000351155.1	71	0.00	0	G	NM_016483		52456828	52456828	+1	no_errors	ENST00000327906	ensembl	human	known	69_37n	missense	87	20.91	23	SNP	0.983	C
PHF8	23133	genome.wustl.edu	37	X	54043158	54043158	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:54043158C>G	ENST00000357988.5	-	6	932	c.574G>C	c.(574-576)Gag>Cag	p.E192Q	PHF8_ENST00000338154.6_Missense_Mutation_p.E156Q|PHF8_ENST00000338946.6_Missense_Mutation_p.E156Q|PHF8_ENST00000322659.8_Missense_Mutation_p.E156Q	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	192					brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|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)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						ACATCAATCTCTTTGTCAGAA	0.468																																						dbGAP											0													102.0	78.0	86.0					X																	54043158		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	20672	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1F"""	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.574G>C	X.37:g.54043158C>G	ENSP00000350676:p.Glu192Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger	p.E192Q	ENST00000357988.5	37	c.574	CCDS55420.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.36|10.36	1.327607|1.327607	0.24080|0.24080	.|.	.|.	ENSG00000172943|ENSG00000172943	ENST00000357988;ENST00000338154;ENST00000338946;ENST00000396277;ENST00000322659|ENST00000396282	T;T;T;T|T	0.25085|0.33216	2.42;2.16;2.21;1.82|1.42	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	0.097713|.	0.64402|.	D|.	0.000003|.	T|T	0.47801|0.47801	0.1465|0.1465	L|L	0.59436|0.59436	1.845|1.845	0.36704|0.36704	D|D	0.880297|0.880297	B;B;B|.	0.29232|.	0.078;0.238;0.134|.	B;B;B|.	0.28465|.	0.03;0.09;0.033|.	T|T	0.56774|0.56774	-0.7923|-0.7923	10|7	0.26408|0.66056	T|D	0.33|0.02	-24.0095|-24.0095	17.0269|17.0269	0.86450|0.86450	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	156;192;192|.	B7Z911;Q9UPP1-3;Q9UPP1|.	.;.;PHF8_HUMAN|.	Q|N	192;156;156;186;156|59	ENSP00000350676:E192Q;ENSP00000338868:E156Q;ENSP00000340051:E156Q;ENSP00000319473:E156Q|ENSP00000379578:K59N	ENSP00000319473:E156Q|ENSP00000379578:K59N	E|K	-|-	1|3	0|2	PHF8|PHF8	54059883|54059883	0.781000|0.781000	0.28676|0.28676	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	1.117000|1.117000	0.31234|0.31234	2.284000|2.284000	0.76573|0.76573	0.513000|0.513000	0.50165|0.50165	GAG|AAG	PHF8	-	NULL	ENSG00000172943		0.468	PHF8-001	KNOWN	basic|CCDS	protein_coding	PHF8	HGNC	protein_coding	OTTHUMT00000056784.2	108	0.00	0	C	NM_015107		54043158	54043158	-1	no_errors	ENST00000357988	ensembl	human	known	69_37n	missense	103	24.46	34	SNP	1.000	G
PHLPP1	23239	genome.wustl.edu	37	18	60646418	60646418	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr18:60646418G>A	ENST00000262719.5	+	17	5142	c.4908G>A	c.(4906-4908)gtG>gtA	p.V1636V	PHLPP1_ENST00000400316.4_Silent_p.V1124V			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1636					apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						GCCACAATGTGATAGAGGTGG	0.597																																						dbGAP											0													26.0	28.0	28.0					18																	60646418		1951	4141	6092	-	-	-	SO:0001819	synonymous_variant	0			AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	20610	protein-coding gene	gene with protein product		609396	"""pleckstrin homology domain containing, family E (with leucine rich repeats) member 1"", ""PH domain and leucine rich repeat protein phosphatase"""	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.4908G>A	18.37:g.60646418G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Silent	SNP	pfam_PP2C-like,pfam_Leu-rich_rpt,superfamily_PP2C-like,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like,pfscan_Pleckstrin_homology	p.V1636	ENST00000262719.5	37	c.4908	CCDS45881.2	18																																																																																			PHLPP1	-	NULL	ENSG00000081913		0.597	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PHLPP1	HGNC	protein_coding	OTTHUMT00000319249.2	23	0.00	0	G	NM_194449		60646418	60646418	+1	no_errors	ENST00000262719	ensembl	human	known	69_37n	silent	8	38.46	5	SNP	0.990	A
PHLPP2	23035	genome.wustl.edu	37	16	71689143	71689143	+	Splice_Site	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:71689143C>A	ENST00000568954.1	-	17	2963	c.2585G>T	c.(2584-2586)aGg>aTg	p.R862M	PHLPP2_ENST00000540628.1_Splice_Site_p.R72M|RP11-432I5.6_ENST00000567077.1_RNA|PHLPP2_ENST00000360429.3_Splice_Site_p.R862M|PHLPP2_ENST00000356272.3_Splice_Site_p.R862M|PHLPP2_ENST00000567016.1_Splice_Site_p.R897M|PHLPP2_ENST00000393524.2_Splice_Site_p.R795M			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	862	PP2C-like.				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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						ACCTGCTTACCTGTGAGATAC	0.413																																						dbGAP											0													160.0	155.0	157.0					16																	71689143		2198	4300	6498	-	-	-	SO:0001630	splice_region_variant	0			BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	29149	protein-coding gene	gene with protein product		611066	"""PH domain and leucine rich repeat protein phosphatase-like"""	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.2585+1G>T	16.37:g.71689143C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L374|Q9NV17|Q9Y2E3	Nonsense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_PP2C-like,superfamily_PP2C-like,smart_Leu-rich_rpt_typical-subtyp	p.G225*	ENST00000568954.1	37	c.673	CCDS32479.1	16	.	.	.	.	.	.	.	.	.	.	C	23.3	4.402539	0.83230	.	.	ENSG00000040199	ENST00000540628;ENST00000299971;ENST00000360429;ENST00000356272;ENST00000393524	T;T;T;T	0.18338	2.22;2.22;2.22;2.22	5.42	5.42	0.78866	Protein phosphatase 2C-like (3);	0.041897	0.85682	D	0.000000	T	0.47322	0.1439	M	0.85777	2.775	0.54753	D	0.999988	D;D	0.89917	1.0;1.0	D;D	0.68943	0.952;0.961	T	0.50415	-0.8831	9	.	.	.	-13.8309	18.2027	0.89844	0.0:1.0:0.0:0.0	.	795;862	Q6ZVD8-3;Q6ZVD8	.;PHLP2_HUMAN	M	72;669;862;862;795	ENSP00000445781:R72M;ENSP00000353610:R862M;ENSP00000348611:R862M;ENSP00000377159:R795M	.	R	-	2	0	PHLPP2	70246644	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.086000	0.71352	2.535000	0.85469	0.655000	0.94253	AGG	PHLPP2	-	pfam_PP2C-like,superfamily_PP2C-like	ENSG00000040199		0.413	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHLPP2	HGNC	protein_coding	OTTHUMT00000434139.1	105	0.00	0	C	NM_015020	Missense_Mutation	71689143	71689143	-1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000564884	ensembl	human	known	69_37n	nonsense	126	13.10	19	SNP	1.000	A
PHLPP2	23035	genome.wustl.edu	37	16	71712799	71712799	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:71712799G>A	ENST00000568954.1	-	8	1505	c.1127C>T	c.(1126-1128)tCc>tTc	p.S376F	PHLPP2_ENST00000360429.3_Missense_Mutation_p.S376F|PHLPP2_ENST00000356272.3_Missense_Mutation_p.S376F|PHLPP2_ENST00000567016.1_Missense_Mutation_p.S411F|PHLPP2_ENST00000393524.2_Missense_Mutation_p.S376F			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	376					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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						GTTGTTGAAGGAAATTCCCAA	0.403																																						dbGAP											0													77.0	75.0	75.0					16																	71712799		2198	4300	6498	-	-	-	SO:0001583	missense	0			BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	29149	protein-coding gene	gene with protein product		611066	"""PH domain and leucine rich repeat protein phosphatase-like"""	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.1127C>T	16.37:g.71712799G>A	ENSP00000457991:p.Ser376Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L374|Q9NV17|Q9Y2E3	Missense_Mutation	SNP	pfam_PP2C-like,pfam_Leu-rich_rpt,superfamily_PP2C-like,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like	p.S376F	ENST00000568954.1	37	c.1127	CCDS32479.1	16	.	.	.	.	.	.	.	.	.	.	G	26.1	4.707330	0.89018	.	.	ENSG00000040199	ENST00000299971;ENST00000360429;ENST00000356272;ENST00000393524;ENST00000538126	T;T;T	0.29142	1.58;1.58;1.58	5.81	5.81	0.92471	.	0.050188	0.85682	D	0.000000	T	0.61451	0.2348	M	0.89163	3.01	0.58432	D	0.999991	D;D	0.71674	0.998;0.996	D;P	0.67103	0.949;0.853	T	0.60535	-0.7244	10	0.26408	T	0.33	-11.3891	19.0677	0.93119	0.0:0.0:1.0:0.0	.	376;376	Q6ZVD8-3;Q6ZVD8	.;PHLP2_HUMAN	F	183;376;376;376;376	ENSP00000353610:S376F;ENSP00000348611:S376F;ENSP00000377159:S376F	ENSP00000299971:S183F	S	-	2	0	PHLPP2	70270300	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	9.869000	0.99810	2.747000	0.94245	0.650000	0.86243	TCC	PHLPP2	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000040199		0.403	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHLPP2	HGNC	protein_coding	OTTHUMT00000434139.1	75	0.00	0	G	NM_015020		71712799	71712799	-1	no_errors	ENST00000356272	ensembl	human	known	69_37n	missense	54	21.74	15	SNP	1.000	A
PHLPP2	23035	genome.wustl.edu	37	16	71748425	71748425	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:71748425C>G	ENST00000568954.1	-	2	652	c.274G>C	c.(274-276)Gac>Cac	p.D92H	PHLPP2_ENST00000360429.3_Missense_Mutation_p.D92H|PHLPP2_ENST00000356272.3_Missense_Mutation_p.D92H|PHLPP2_ENST00000567016.1_Missense_Mutation_p.D127H|PHLPP2_ENST00000393524.2_Missense_Mutation_p.D92H			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	92					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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						CTGACCAGGTCTCCATGAAGC	0.393																																						dbGAP											0													75.0	69.0	71.0					16																	71748425		2198	4300	6498	-	-	-	SO:0001583	missense	0			BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	29149	protein-coding gene	gene with protein product		611066	"""PH domain and leucine rich repeat protein phosphatase-like"""	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.274G>C	16.37:g.71748425C>G	ENSP00000457991:p.Asp92His	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L374|Q9NV17|Q9Y2E3	Missense_Mutation	SNP	pfam_PP2C-like,pfam_Leu-rich_rpt,superfamily_PP2C-like,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like	p.D92H	ENST00000568954.1	37	c.274	CCDS32479.1	16	.	.	.	.	.	.	.	.	.	.	C	19.80	3.895051	0.72639	.	.	ENSG00000040199	ENST00000360429;ENST00000356272;ENST00000393524;ENST00000538126	T;T;T	0.38560	1.13;1.13;1.13	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.63295	0.2499	L	0.56769	1.78	0.58432	D	0.99999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.64761	-0.6331	10	0.87932	D	0	-20.0667	18.5248	0.90968	0.0:1.0:0.0:0.0	.	92;92	Q6ZVD8-3;Q6ZVD8	.;PHLP2_HUMAN	H	92	ENSP00000353610:D92H;ENSP00000348611:D92H;ENSP00000377159:D92H	ENSP00000348611:D92H	D	-	1	0	PHLPP2	70305926	1.000000	0.71417	1.000000	0.80357	0.635000	0.38103	6.602000	0.74141	2.617000	0.88574	0.585000	0.79938	GAC	PHLPP2	-	NULL	ENSG00000040199		0.393	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHLPP2	HGNC	protein_coding	OTTHUMT00000434139.1	87	0.00	0	C	NM_015020		71748425	71748425	-1	no_errors	ENST00000356272	ensembl	human	known	69_37n	missense	65	48.00	60	SNP	1.000	G
PHTF2	57157	genome.wustl.edu	37	7	77558579	77558579	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:77558579G>C	ENST00000248550.7	+	11	1349	c.1273G>C	c.(1273-1275)Gat>Cat	p.D425H	PHTF2_ENST00000416283.2_Missense_Mutation_p.D391H|PHTF2_ENST00000307305.8_Missense_Mutation_p.D387H|PHTF2_ENST00000424760.1_Missense_Mutation_p.D387H|PHTF2_ENST00000275575.7_Missense_Mutation_p.D387H|PHTF2_ENST00000422959.2_Missense_Mutation_p.D391H|PHTF2_ENST00000454592.1_3'UTR			Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	425					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						CAGTGAGACAGATGTGGAAAA	0.393																																						dbGAP											0													135.0	129.0	131.0					7																	77558579		1885	4132	6017	-	-	-	SO:0001583	missense	0			AL136883	CCDS47621.1, CCDS47622.1, CCDS47623.1, CCDS47624.1	7q11.23-q21	2008-02-01			ENSG00000006576	ENSG00000006576			13411	protein-coding gene	gene with protein product						10729229	Standard	NM_020432		Approved	DKFZp434D166	uc003ugq.4	Q8N3S3	OTTHUMG00000155557	ENST00000248550.7:c.1273G>C	7.37:g.77558579G>C	ENSP00000248550:p.Asp425His	Somatic		WXS	Illumina GAIIx	Phase_IV	A0JP04|A0JP05|A4D1C2|E9PEE3|G5E9H7|Q6NW35|Q8TBW4|Q9H099	Missense_Mutation	SNP	pfam_TF_homeodomain_male	p.D425H	ENST00000248550.7	37	c.1273		7	.	.	.	.	.	.	.	.	.	.	G	25.6	4.654884	0.88056	.	.	ENSG00000006576	ENST00000427986;ENST00000422959;ENST00000307305;ENST00000424760;ENST00000275575;ENST00000416283;ENST00000248550	.	.	.	6.06	6.06	0.98353	.	0.144051	0.64402	D	0.000009	T	0.77718	0.4172	L	0.54323	1.7	0.80722	D	1	D;D;D;D;P;D;D	0.89917	1.0;0.995;0.998;0.991;0.604;0.999;0.994	D;P;P;P;B;D;P	0.76575	0.988;0.847;0.907;0.907;0.369;0.94;0.873	T	0.77294	-0.2641	9	0.87932	D	0	-20.0062	20.6208	0.99490	0.0:0.0:1.0:0.0	.	229;387;250;391;425;387;387	Q8WVD6;Q8N3S3-4;Q8N5I6;Q8N3S3-2;Q8N3S3;Q8N3S3-3;B3KQZ2	.;.;.;.;PHTF2_HUMAN;.;.	H	391;391;387;387;387;391;425	.	ENSP00000248550:D425H	D	+	1	0	PHTF2	77396515	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.230000	0.95299	2.882000	0.98803	0.655000	0.94253	GAT	PHTF2	-	NULL	ENSG00000006576		0.393	PHTF2-006	KNOWN	basic	protein_coding	PHTF2	HGNC	protein_coding	OTTHUMT00000340638.2	121	0.00	0	G	NM_020432		77558579	77558579	+1	no_errors	ENST00000248550	ensembl	human	known	69_37n	missense	86	28.33	34	SNP	1.000	C
PI4KA	5297	genome.wustl.edu	37	22	21081626	21081626	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:21081626G>C	ENST00000572273.1	-	41	4889	c.4659C>G	c.(4657-4659)tgC>tgG	p.C1553W	AC007308.6_ENST00000430719.1_RNA|PI4KA_ENST00000255882.6_Missense_Mutation_p.C1611W|PI4KA_ENST00000414196.3_Missense_Mutation_p.C363W			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1553	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)			TGGGCGCCCAGCACAGCACAT	0.647																																					GBM(136;1332 1831 3115 23601 50806)	dbGAP											0													32.0	34.0	33.0					22																	21081626		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.4659C>G	22.37:g.21081626G>C	ENSP00000458238:p.Cys1553Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z625|Q9UPG2	Missense_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.C1611W	ENST00000572273.1	37	c.4833		22	.	.	.	.	.	.	.	.	.	.	G	19.15	3.770931	0.69992	.	.	ENSG00000241973	ENST00000255882;ENST00000414196	T	0.63255	-0.03	5.44	-0.36	0.12568	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.067865	0.85682	D	0.000000	T	0.65491	0.2696	L	0.51422	1.61	0.80722	D	1	D	0.62365	0.991	D	0.69142	0.962	T	0.60110	-0.7327	10	0.38643	T	0.18	-26.7042	6.1432	0.20271	0.2637:0.0:0.6155:0.1208	.	1553	P42356	PI4KA_HUMAN	W	1553;363	ENSP00000402981:C363W	ENSP00000255882:C1553W	C	-	3	2	PI4KA	19411626	1.000000	0.71417	0.838000	0.33150	0.854000	0.48673	3.365000	0.52335	-0.083000	0.12618	0.655000	0.94253	TGC	PI4KA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000241973		0.647	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	PI4KA	HGNC	protein_coding		17	0.00	0	G	NM_058004		21081626	21081626	-1	no_errors	ENST00000255882	ensembl	human	known	69_37n	missense	22	20.69	6	SNP	1.000	C
PI4KB	5298	genome.wustl.edu	37	1	151274390	151274390	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:151274390G>C	ENST00000368873.1	-	8	1847	c.1679C>G	c.(1678-1680)tCa>tGa	p.S560*	PI4KB_ENST00000368874.4_Nonsense_Mutation_p.S545*|PI4KB_ENST00000529142.1_Nonsense_Mutation_p.S228*|RN7SL444P_ENST00000578948.1_RNA|PI4KB_ENST00000368875.2_Nonsense_Mutation_p.S572*|PI4KB_ENST00000271657.5_Nonsense_Mutation_p.S572*|PI4KB_ENST00000368872.1_Nonsense_Mutation_p.S545*			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	560	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269, ECO:0000305}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GACAATGACTGACAGGAGCCG	0.552																																					Colon(154;765 1838 9854 28443 37492)	dbGAP											0													52.0	58.0	56.0					1																	151274390		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348	ENST00000368873.1:c.1679C>G	1.37:g.151274390G>C	ENSP00000357867:p.Ser560*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Nonsense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.S572*	ENST00000368873.1	37	c.1715		1	.	.	.	.	.	.	.	.	.	.	G	42	9.778629	0.99261	.	.	ENSG00000143393	ENST00000368874;ENST00000368875;ENST00000271657;ENST00000368873;ENST00000529142;ENST00000368872	.	.	.	4.96	4.96	0.65561	.	0.119433	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-4.1448	16.9277	0.86181	0.0:0.0:1.0:0.0	.	.	.	.	X	545;572;572;560;228;545	.	ENSP00000271657:S572X	S	-	2	0	PI4KB	149541014	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	9.221000	0.95188	2.578000	0.87016	0.462000	0.41574	TCA	PI4KB	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000143393		0.552	PI4KB-002	KNOWN	basic	protein_coding	PI4KB	HGNC	protein_coding	OTTHUMT00000034400.3	73	0.00	0	G	NM_002651		151274390	151274390	-1	no_errors	ENST00000271657	ensembl	human	known	69_37n	nonsense	63	16.00	12	SNP	1.000	C
PIAS2	9063	genome.wustl.edu	37	18	44398376	44398376	+	Intron	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr18:44398376C>T	ENST00000585916.1	-	12	1648				PIAS2_ENST00000324794.7_Silent_p.L561L|PIAS2_ENST00000545673.1_Silent_p.L271L	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT, 2						androgen receptor signaling pathway (GO:0030521)|negative regulation of androgen receptor signaling pathway (GO:0060766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|regulation of osteoblast differentiation (GO:0045667)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						TTCCAAGCTTCAGTTCATTAT	0.274																																						dbGAP											0													119.0	109.0	113.0					18																	44398376		2201	4295	6496	-	-	-	SO:0001627	intron_variant	0			AF077953	CCDS32824.1, CCDS32825.1	18q12.1-q12.3	2011-10-11				ENSG00000078043		"""Zinc fingers, MIZ-type"""	17311	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 4"""	603567				9724754, 9256341	Standard	NM_004671		Approved	PIASX-BETA, miz, PIASX-ALPHA, ZMIZ4	uc002lck.3	O75928		ENST00000585916.1:c.1648+2519G>A	18.37:g.44398376C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O75927|Q96BT5|Q96KE3	Silent	SNP	pfam_Znf_MIZ,smart_SAP_DNA-bd,pfscan_Znf_MIZ,pfscan_SAP_DNA-bd	p.L561	ENST00000585916.1	37	c.1683	CCDS32824.1	18																																																																																			PIAS2	-	NULL	ENSG00000078043		0.274	PIAS2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	PIAS2	HGNC	protein_coding	OTTHUMT00000445656.2	219	0.45	1	C	NM_004671		44398376	44398376	-1	no_errors	ENST00000324794	ensembl	human	known	69_37n	silent	30	62.03	49	SNP	0.996	T
PIBF1	10464	genome.wustl.edu	37	13	73372093	73372093	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr13:73372093C>G	ENST00000326291.6	+	5	939	c.601C>G	c.(601-603)Cta>Gta	p.L201V		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	201						centrosome (GO:0005813)				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		AATCTGTGAACTACAAGTGAA	0.323																																						dbGAP											0													100.0	105.0	103.0					13																	73372093		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF330046	CCDS31991.1	13q21.33	2014-02-20	2007-10-17	2007-10-17	ENSG00000083535	ENSG00000083535			23352	protein-coding gene	gene with protein product	"""progesterone-induced blocking factor 1"""	607532	"""chromosome 13 open reading frame 24"""	C13orf24		11935316	Standard	NM_006346		Approved	CEP90	uc001vjc.3	Q8WXW3	OTTHUMG00000017071	ENST00000326291.6:c.601C>G	13.37:g.73372093C>G	ENSP00000317144:p.Leu201Val	Somatic		WXS	Illumina GAIIx	Phase_IV	O95664|Q6U9V2|Q6UG50|Q86V07|Q96SF4	Missense_Mutation	SNP	superfamily_t-SNARE	p.L201V	ENST00000326291.6	37	c.601	CCDS31991.1	13	.	.	.	.	.	.	.	.	.	.	C	21.6	4.169727	0.78452	.	.	ENSG00000083535	ENST00000326291;ENST00000538949	T	0.06768	3.26	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.31638	0.0803	M	0.73598	2.24	0.58432	D	0.999996	D;D	0.71674	0.998;0.998	D;D	0.83275	0.996;0.99	T	0.02220	-1.1193	10	0.62326	D	0.03	-7.056	18.985	0.92766	0.0:1.0:0.0:0.0	.	201;201	Q8WXW3;Q4G0R1	PIBF1_HUMAN;.	V	201	ENSP00000317144:L201V	ENSP00000317144:L201V	L	+	1	2	PIBF1	72270094	1.000000	0.71417	0.998000	0.56505	0.869000	0.49853	4.848000	0.62874	2.486000	0.83907	0.650000	0.86243	CTA	PIBF1	-	NULL	ENSG00000083535		0.323	PIBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIBF1	HGNC	protein_coding	OTTHUMT00000045255.1	70	0.00	0	C	NM_006346		73372093	73372093	+1	no_errors	ENST00000326291	ensembl	human	known	69_37n	missense	30	50.82	31	SNP	1.000	G
PICALM	8301	genome.wustl.edu	37	11	85692938	85692938	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:85692938G>A	ENST00000393346.3	-	15	1773	c.1625C>T	c.(1624-1626)tCa>tTa	p.S542L	PICALM_ENST00000356360.5_Missense_Mutation_p.S542L|PICALM_ENST00000526033.1_Missense_Mutation_p.S535L|PICALM_ENST00000528398.1_Missense_Mutation_p.S441L|PICALM_ENST00000532317.1_Missense_Mutation_p.S492L			Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	542					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)				GGCTAAAGATGAATCCAAGTC	0.403			T	"""MLLT10, MLL"""	"""TALL, AML, """																																	dbGAP		Dom	yes		11	11q14	8301	phosphatidylinositol binding clathrin assembly protein (CALM)		L	0													121.0	115.0	117.0					11																	85692938		2203	4299	6502	-	-	-	SO:0001583	missense	0			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.1625C>T	11.37:g.85692938G>A	ENSP00000377015:p.Ser542Leu	Somatic		WXS	Illumina GAIIx	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.S542L	ENST00000393346.3	37	c.1625	CCDS8272.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.212031|5.212031	0.95069|0.95069	.|.	.|.	ENSG00000073921|ENSG00000073921	ENST00000530692;ENST00000529016|ENST00000532317;ENST00000526033;ENST00000447890;ENST00000393346;ENST00000528398;ENST00000356360	.|T;T;T;T;T	.|0.47869	.|0.83;0.83;0.83;0.83;0.83	5.28|5.28	5.28|5.28	0.74379|0.74379	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.69815|0.69815	0.3153|0.3153	M|M	0.74647|0.74647	2.275|2.275	0.80722|0.80722	D|D	1|1	.|D;D;D;D;P;D	.|0.89917	.|0.993;0.992;0.989;0.999;0.947;1.0	.|D;D;P;D;P;D	.|0.76071	.|0.977;0.974;0.883;0.987;0.471;0.983	T|T	0.69569|0.69569	-0.5110|-0.5110	5|9	.|.	.|.	.|.	-7.6675|-7.6675	19.2688|19.2688	0.94000|0.94000	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|441;119;542;535;542;492	.|E9PN05;B4DLM1;A8MX97;F8VPG7;Q13492;Q13492-3	.|.;.;.;.;PICAL_HUMAN;.	Y|L	71;189|492;535;542;542;441;542	.|ENSP00000436958:S492L;ENSP00000433846:S535L;ENSP00000377015:S542L;ENSP00000434884:S441L;ENSP00000348718:S542L	.|.	H|S	-|-	1|2	0|0	PICALM|PICALM	85370586|85370586	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.420000|9.420000	0.97426|0.97426	2.639000|2.639000	0.89480|0.89480	0.591000|0.591000	0.81541|0.81541	CAT|TCA	PICALM	-	NULL	ENSG00000073921		0.403	PICALM-005	KNOWN	basic|appris_principal|CCDS	protein_coding	PICALM	HGNC	protein_coding	OTTHUMT00000392224.1	120	0.00	0	G	NM_007166		85692938	85692938	-1	no_errors	ENST00000393346	ensembl	human	known	69_37n	missense	23	74.73	68	SNP	1.000	A
PICK1	9463	genome.wustl.edu	37	22	38461060	38461060	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:38461060G>A	ENST00000404072.3	+	4	552	c.205G>A	c.(205-207)Gag>Aag	p.E69K	RP5-1039K5.13_ENST00000445483.1_RNA|PICK1_ENST00000356976.3_Missense_Mutation_p.E69K|PICK1_ENST00000468288.1_3'UTR	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN	protein interacting with PRKCA 1	69	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				ATP catabolic process (GO:0006200)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|dendritic spine maintenance (GO:0097062)|dendritic spine organization (GO:0097061)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|glial cell development (GO:0021782)|long term synaptic depression (GO:0060292)|monoamine transport (GO:0015844)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|neuronal ion channel clustering (GO:0045161)|positive regulation of receptor internalization (GO:0002092)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|protein targeting (GO:0006605)|receptor clustering (GO:0043113)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endocytic vesicle membrane (GO:0030666)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein kinase C binding (GO:0005080)|receptor binding (GO:0005102)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					AGCTGGCGATGAGATCACCGG	0.547																																						dbGAP											0													119.0	96.0	104.0					22																	38461060		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL049654	CCDS13965.1	22q13.1	2006-02-14	2006-02-14	2006-02-14	ENSG00000100151	ENSG00000100151			9394	protein-coding gene	gene with protein product		605926	"""protein kinase C, alpha binding protein"", ""protein interacting with PRKCA"""	PRKCABP		10340301, 10591208	Standard	XM_006724377		Approved	dJ1039K5, MGC15204	uc003aus.3	Q9NRD5	OTTHUMG00000151159	ENST00000404072.3:c.205G>A	22.37:g.38461060G>A	ENSP00000385205:p.Glu69Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KS52|O95906	Missense_Mutation	SNP	pfam_Arfaptin_homology_dom,pfam_PDZ,pfam_BAR_dom,superfamily_PDZ,smart_PDZ,pfscan_Arfaptin_homology_dom,pfscan_PDZ	p.E69K	ENST00000404072.3	37	c.205	CCDS13965.1	22	.	.	.	.	.	.	.	.	.	.	G	35	5.520072	0.96416	.	.	ENSG00000100151	ENST00000404072;ENST00000424694;ENST00000437453;ENST00000356976;ENST00000435166	T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88	5.12	5.12	0.69794	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.50360	0.1611	M	0.76938	2.355	0.80722	D	1	D	0.57257	0.979	P	0.58266	0.836	T	0.55927	-0.8063	10	0.87932	D	0	-41.8721	18.9552	0.92655	0.0:0.0:1.0:0.0	.	69	Q9NRD5	PICK1_HUMAN	K	69	ENSP00000385205:E69K;ENSP00000398141:E69K;ENSP00000410793:E69K;ENSP00000349465:E69K;ENSP00000397588:E69K	ENSP00000349465:E69K	E	+	1	0	PICK1	36791006	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.534000	0.98061	2.562000	0.86427	0.563000	0.77884	GAG	PICK1	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000100151		0.547	PICK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PICK1	HGNC	protein_coding	OTTHUMT00000321569.2	81	0.00	0	G	NM_012407		38461060	38461060	+1	no_errors	ENST00000356976	ensembl	human	known	69_37n	missense	79	31.30	36	SNP	1.000	A
PIEZO1	9780	genome.wustl.edu	37	16	88783103	88783103	+	Missense_Mutation	SNP	C	C	G	rs80295101		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:88783103C>G	ENST00000301015.9	-	47	7036	c.6790G>C	c.(6790-6792)Gac>Cac	p.D2264H	PIEZO1_ENST00000327397.7_Missense_Mutation_p.D132H|RP5-1142A6.9_ENST00000564984.1_RNA|MIR4722_ENST00000578292.1_RNA	NM_001142864.2	NP_001136336.2	Q92508	PIEZ1_HUMAN	piezo-type mechanosensitive ion channel component 1	2264					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						GTGACGATGTCCTCAGGGCTG	0.642																																						dbGAP											0													44.0	48.0	47.0					16																	88783103		692	1586	2278	-	-	-	SO:0001583	missense	0			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	ENST00000301015.9:c.6790G>C	16.37:g.88783103C>G	ENSP00000301015:p.Asp2264His	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHT9|A7E2B7|Q0KKZ9	Missense_Mutation	SNP	pfam_DUF3595	p.D132H	ENST00000301015.9	37	c.394	CCDS54058.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.8|22.8	4.340436|4.340436	0.81911|0.81911	.|.	.|.	ENSG00000103335|ENSG00000103335	ENST00000301015;ENST00000327397|ENST00000451779	T;T|.	0.74106|.	-0.81;-0.81|.	4.67|4.67	4.67|4.67	0.58626|0.58626	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85199|0.85199	0.5642|0.5642	M|M	0.92367|0.92367	3.3|3.3	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.999;1.0;1.0|.	D|D	0.89338|0.89338	0.3652|0.3652	10|5	0.72032|.	D|.	0.01|.	-37.0538|-37.0538	16.3541|16.3541	0.83228|0.83228	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2264;132;132|.	Q92508;E7EUT2;Q96HU3|.	PIEZ1_HUMAN;.;.|.	H|A	2264;132|2209	ENSP00000301015:D2264H;ENSP00000333704:D132H|.	ENSP00000301015:D2264H|.	D|G	-|-	1|2	0|0	FAM38A|FAM38A	87310604|87310604	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.915000|0.915000	0.54546|0.54546	7.218000|7.218000	0.77991|0.77991	2.136000|2.136000	0.66102|0.66102	0.563000|0.563000	0.77884|0.77884	GAC|GGA	PIEZO1	-	pfam_DUF3595	ENSG00000103335		0.642	PIEZO1-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	PIEZO1	HGNC	protein_coding	OTTHUMT00000345699.4	36	0.00	0	C	NM_014745		88783103	88783103	-1	no_errors	ENST00000327397	ensembl	human	known	69_37n	missense	32	27.27	12	SNP	1.000	G
PIEZO1	9780	genome.wustl.edu	37	16	88786251	88786251	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:88786251G>A	ENST00000301015.9	-	43	6528	c.6282C>T	c.(6280-6282)ctC>ctT	p.L2094L	PIEZO1_ENST00000327397.7_5'UTR|RP5-1142A6.9_ENST00000564984.1_RNA	NM_001142864.2	NP_001136336.2	Q92508	PIEZ1_HUMAN	piezo-type mechanosensitive ion channel component 1	2094					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						ACTTCTTGGTGAGGAAGTTGC	0.627																																						dbGAP											0													79.0	85.0	83.0					16																	88786251		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			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	ENST00000301015.9:c.6282C>T	16.37:g.88786251G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHT9|A7E2B7|Q0KKZ9	Missense_Mutation	SNP	pfam_DUF3595	p.S936L	ENST00000301015.9	37	c.2807	CCDS54058.1	16	.	.	.	.	.	.	.	.	.	.	G	15.57	2.873843	0.51695	.	.	ENSG00000103335	ENST00000451779	.	.	.	5.65	3.67	0.42095	.	.	.	.	.	T	0.59376	0.2189	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54456	-0.8291	4	.	.	.	-53.0383	9.6431	0.39850	0.0708:0.2708:0.6584:0.0	.	.	.	.	Y	2040	.	.	H	-	1	0	FAM38A	87313752	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.400000	0.34577	0.721000	0.32231	0.561000	0.74099	CAC	PIEZO1	-	NULL	ENSG00000103335		0.627	PIEZO1-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	PIEZO1	HGNC	protein_coding	OTTHUMT00000345699.4	51	0.00	0	G	NM_014745		88786251	88786251	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000451779	ensembl	human	putative	69_37n	missense	41	14.58	7	SNP	1.000	A
PIEZO2	63895	genome.wustl.edu	37	18	10803884	10803884	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr18:10803884C>T	ENST00000503781.3	-	9	1188	c.1189G>A	c.(1189-1191)Gat>Aat	p.D397N	PIEZO2_ENST00000302079.6_Missense_Mutation_p.D397N|PIEZO2_ENST00000580640.1_Missense_Mutation_p.D397N	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	397					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)										TTTCTCTCATCAGTGGGGTAA	0.438																																						dbGAP											0													140.0	127.0	131.0					18																	10803884		692	1591	2283	-	-	-	SO:0001583	missense	0			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.1189G>A	18.37:g.10803884C>T	ENSP00000421377:p.Asp397Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Missense_Mutation	SNP	NULL	p.D397N	ENST00000503781.3	37	c.1189		18	.	.	.	.	.	.	.	.	.	.	C	15.23	2.770407	0.49680	.	.	ENSG00000154864	ENST00000302079	T	0.73789	-0.78	5.33	5.33	0.75918	.	0.155160	0.56097	D	0.000029	T	0.82107	0.4965	L	0.60455	1.87	0.80722	D	1	.	.	.	.	.	.	T	0.82065	-0.0642	8	0.49607	T	0.09	-19.4665	19.0528	0.93052	0.0:1.0:0.0:0.0	.	.	.	.	N	397	ENSP00000303316:D397N	ENSP00000303316:D397N	D	-	1	0	FAM38B	10793884	1.000000	0.71417	0.575000	0.28536	0.806000	0.45545	6.176000	0.71955	2.488000	0.83962	0.650000	0.86243	GAT	PIEZO2	-	NULL	ENSG00000154864		0.438	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	PIEZO2	HGNC	protein_coding	OTTHUMT00000442385.4	120	0.00	0	C	NM_022068		10803884	10803884	-1	no_errors	ENST00000582913	ensembl	human	known	69_37n	missense	70	35.19	38	SNP	1.000	T
PIGG	54872	genome.wustl.edu	37	4	502673	502673	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:502673C>T	ENST00000453061.2	+	5	921	c.815C>T	c.(814-816)tCt>tTt	p.S272F	PIGG_ENST00000383028.4_Missense_Mutation_p.S139F|PIGG_ENST00000504346.1_Missense_Mutation_p.S183F|PIGG_ENST00000509768.1_Missense_Mutation_p.S183F|PIGG_ENST00000503111.1_Missense_Mutation_p.S183F|PIGG_ENST00000296306.7_Missense_Mutation_p.S183F|PIGG_ENST00000536264.1_Missense_Mutation_p.S150F|PIGG_ENST00000310340.5_Missense_Mutation_p.S272F	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	272					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						CATGGCATGTCTGAAACAGGA	0.463																																						dbGAP											0													141.0	128.0	133.0					4																	502673		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1	4p16.3	2013-02-26	2006-06-28		ENSG00000174227	ENSG00000174227		"""Phosphatidylinositol glycan anchor biosynthesis"""	25985	protein-coding gene	gene with protein product			"""phosphatidylinositol glycan, class G"""			15632136	Standard	XM_005272287		Approved	FLJ20265, GPI7, LAS21	uc003gak.4	Q5H8A4	OTTHUMG00000112457	ENST00000453061.2:c.815C>T	4.37:g.502673C>T	ENSP00000415203:p.Ser272Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.S272F	ENST00000453061.2	37	c.815	CCDS46992.1	4	.	.	.	.	.	.	.	.	.	.	C	24.0	4.483071	0.84747	.	.	ENSG00000174227	ENST00000296306;ENST00000536264;ENST00000310340;ENST00000453061;ENST00000504346;ENST00000503111;ENST00000383028;ENST00000509768	T;T;T;T;T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81;-0.81;-0.81;1.51;-0.81	5.63	5.63	0.86233	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.88183	0.6368	M	0.86953	2.85	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D	0.91635	0.99;0.999;0.996;0.972;0.999;0.997	D	0.89628	0.3853	10	0.72032	D	0.01	.	17.1807	0.86854	0.0:1.0:0.0:0.0	.	150;139;183;183;272;272	B4DKC7;Q5H8A4-3;D6RFE8;Q5H8A4-5;Q5H8A4;Q5H8A4-2	.;.;.;.;PIGG_HUMAN;.	F	183;150;272;272;183;183;139;183	ENSP00000296306:S183F;ENSP00000439240:S150F;ENSP00000311750:S272F;ENSP00000415203:S272F;ENSP00000424800:S183F;ENSP00000426002:S183F;ENSP00000372494:S139F;ENSP00000421550:S183F	ENSP00000296306:S183F	S	+	2	0	PIGG	492673	1.000000	0.71417	0.972000	0.41901	0.604000	0.37047	7.193000	0.77780	2.675000	0.91044	0.655000	0.94253	TCT	PIGG	-	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	ENSG00000174227		0.463	PIGG-001	KNOWN	basic|CCDS	protein_coding	PIGG	HGNC	protein_coding	OTTHUMT00000357494.1	130	0.00	0	C	NM_017733		502673	502673	+1	no_errors	ENST00000453061	ensembl	human	known	69_37n	missense	94	28.79	38	SNP	1.000	T
PIGW	284098	genome.wustl.edu	37	17	34894238	34894238	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:34894238G>A	ENST00000592983.1	+	2	1868	c.1288G>A	c.(1288-1290)Gaa>Aaa	p.E430K	PIGW_ENST00000328396.2_Missense_Mutation_p.E430K|MYO19_ENST00000590081.1_Intron			Q7Z7B1	PIGW_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class W	430					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups (GO:0016746)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TCTAGTCCCTGAAGCCGAAAG	0.353																																						dbGAP											0													74.0	74.0	74.0					17																	34894238		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB097818	CCDS11313.1	17q21.1	2014-05-06	2006-06-28		ENSG00000184886	ENSG00000277161		"""Phosphatidylinositol glycan anchor biosynthesis"""	23213	protein-coding gene	gene with protein product		610275	"""phosphatidylinositol glycan, class W"""			14517336, 12714589	Standard	XM_005257238		Approved	Gwt1, FLJ37433	uc002hmz.1	Q7Z7B1	OTTHUMG00000188438	ENST00000592983.1:c.1288G>A	17.37:g.34894238G>A	ENSP00000468778:p.Glu430Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N9G3	Missense_Mutation	SNP	pfam_GWT1,pirsf_GWT1	p.E430K	ENST00000592983.1	37	c.1288	CCDS11313.1	17	.	.	.	.	.	.	.	.	.	.	G	0.544	-0.852294	0.02651	.	.	ENSG00000184886	ENST00000328396	.	.	.	5.72	1.13	0.20643	.	0.334802	0.30410	N	0.009685	T	0.14917	0.0360	N	0.05487	-0.04	0.09310	N	1	B	0.12013	0.005	B	0.14578	0.011	T	0.22730	-1.0208	8	.	.	.	-0.6189	6.7202	0.23327	0.2492:0.1739:0.5769:0.0	.	430	Q7Z7B1	PIGW_HUMAN	K	430	.	.	E	+	1	0	PIGW	31968351	0.001000	0.12720	0.338000	0.25549	0.030000	0.12068	0.334000	0.19787	0.360000	0.24265	0.462000	0.41574	GAA	PIGW	-	pfam_GWT1,pirsf_GWT1	ENSG00000184886		0.353	PIGW-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PIGW	HGNC	protein_coding	OTTHUMT00000451318.1	93	0.00	0	G	NM_178517		34894238	34894238	+1	no_errors	ENST00000328396	ensembl	human	known	69_37n	missense	51	29.17	21	SNP	0.049	A
PIK3C2B	5287	genome.wustl.edu	37	1	204438647	204438647	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:204438647G>A	ENST00000367187.3	-	3	840	c.284C>T	c.(283-285)tCa>tTa	p.S95L	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.S95L	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	95	Interaction with GRB2.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|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)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			TGGGGAGAGTGAGTTGTAGTT	0.592																																						dbGAP											0													114.0	97.0	103.0					1																	204438647		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.284C>T	1.37:g.204438647G>A	ENSP00000356155:p.Ser95Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	O95666|Q5SW99	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_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.S95L	ENST00000367187.3	37	c.284	CCDS1446.1	1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.441005	0.63067	.	.	ENSG00000133056	ENST00000367187;ENST00000424712;ENST00000415899	T;T	0.67523	-0.12;-0.27	5.25	5.25	0.73442	.	0.000000	0.48286	D	0.000183	T	0.54095	0.1837	L	0.27053	0.805	0.33649	D	0.608251	B;B	0.29646	0.253;0.164	B;B	0.27608	0.081;0.037	T	0.61753	-0.6998	10	0.26408	T	0.33	.	16.6306	0.85032	0.0:0.0:1.0:0.0	.	95;95	F5GWN5;O00750	.;P3C2B_HUMAN	L	95	ENSP00000356155:S95L;ENSP00000400561:S95L	ENSP00000356155:S95L	S	-	2	0	PIK3C2B	202705270	1.000000	0.71417	0.951000	0.38953	0.983000	0.72400	5.415000	0.66411	2.449000	0.82847	0.455000	0.32223	TCA	PIK3C2B	-	NULL	ENSG00000133056		0.592	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3C2B	HGNC	protein_coding	OTTHUMT00000087965.1	136	0.00	0	G	NM_002646		204438647	204438647	-1	no_errors	ENST00000367187	ensembl	human	known	69_37n	missense	124	20.51	32	SNP	0.991	A
PIK3C3	5289	genome.wustl.edu	37	18	39567853	39567853	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr18:39567853G>T	ENST00000262039.4	+	5	695	c.609G>T	c.(607-609)atG>atT	p.M203I	PIK3C3_ENST00000398870.3_Missense_Mutation_p.M140I	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	203					autophagic vacuole assembly (GO:0000045)|cytokinesis (GO:0000910)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein processing (GO:0016485)|regulation of protein secretion (GO:0050708)|response to leucine (GO:0043201)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)|midbody (GO:0030496)|phagocytic vesicle (GO:0045335)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						AAATAGAAATGATAAATGAGG	0.284										TSP Lung(28;0.18)																											NSCLC(37;552 1060 2683 16430 37914)	dbGAP											0													87.0	88.0	88.0					18																	39567853		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z46973	CCDS11920.1	18q12.3	2012-07-13	2012-07-13		ENSG00000078142	ENSG00000078142	2.7.1.137		8974	protein-coding gene	gene with protein product		602609	"""phosphoinositide-3-kinase, class 3"""			7628435	Standard	NM_002647		Approved	Vps34	uc002lap.3	Q8NEB9	OTTHUMG00000132593	ENST00000262039.4:c.609G>T	18.37:g.39567853G>T	ENSP00000262039:p.Met203Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15134	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pirsf_PI3K_Vps34,pfscan_PI3/4_kinase_cat_dom	p.M203I	ENST00000262039.4	37	c.609	CCDS11920.1	18	.	.	.	.	.	.	.	.	.	.	G	18.08	3.543023	0.65198	.	.	ENSG00000078142	ENST00000262039;ENST00000398870	T;T	0.63255	-0.03;0.34	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.59280	0.2182	L	0.51422	1.61	0.80722	D	1	B;B	0.27997	0.091;0.197	B;B	0.26202	0.065;0.067	T	0.53401	-0.8444	9	.	.	.	.	20.1041	0.97884	0.0:0.0:1.0:0.0	.	140;203	A8MYT4;Q8NEB9	.;PK3C3_HUMAN	I	203;140	ENSP00000262039:M203I;ENSP00000381845:M140I	.	M	+	3	0	PIK3C3	37821851	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.781000	0.99029	2.826000	0.97356	0.655000	0.94253	ATG	PIK3C3	-	pirsf_PI3K_Vps34	ENSG00000078142		0.284	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3C3	HGNC	protein_coding	OTTHUMT00000255804.1	94	0.00	0	G	NM_002647		39567853	39567853	+1	no_errors	ENST00000262039	ensembl	human	known	69_37n	missense	36	23.40	11	SNP	1.000	T
PIK3C3	5289	genome.wustl.edu	37	18	39623707	39623707	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr18:39623707G>C	ENST00000262039.4	+	20	2200	c.2114G>C	c.(2113-2115)aGa>aCa	p.R705T	PIK3C3_ENST00000587402.1_Missense_Mutation_p.R52T|PIK3C3_ENST00000398870.3_Missense_Mutation_p.R642T|PIK3C3_ENST00000593098.1_Missense_Mutation_p.R190T|PIK3C3_ENST00000589056.1_Missense_Mutation_p.R52T	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	705	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				autophagic vacuole assembly (GO:0000045)|cytokinesis (GO:0000910)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein processing (GO:0016485)|regulation of protein secretion (GO:0050708)|response to leucine (GO:0043201)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)|midbody (GO:0030496)|phagocytic vesicle (GO:0045335)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						AACTTTTTTAGAAAATATGCA	0.343										TSP Lung(28;0.18)																											NSCLC(37;552 1060 2683 16430 37914)	dbGAP											0													111.0	108.0	109.0					18																	39623707		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z46973	CCDS11920.1	18q12.3	2012-07-13	2012-07-13		ENSG00000078142	ENSG00000078142	2.7.1.137		8974	protein-coding gene	gene with protein product		602609	"""phosphoinositide-3-kinase, class 3"""			7628435	Standard	NM_002647		Approved	Vps34	uc002lap.3	Q8NEB9	OTTHUMG00000132593	ENST00000262039.4:c.2114G>C	18.37:g.39623707G>C	ENSP00000262039:p.Arg705Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15134	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pirsf_PI3K_Vps34,pfscan_PI3/4_kinase_cat_dom	p.R705T	ENST00000262039.4	37	c.2114	CCDS11920.1	18	.	.	.	.	.	.	.	.	.	.	G	26.9	4.783175	0.90282	.	.	ENSG00000078142	ENST00000262039;ENST00000398870	T;T	0.75477	-0.94;-0.94	5.46	5.46	0.80206	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.128342	0.56097	D	0.000036	D	0.86802	0.6020	M	0.77616	2.38	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.968	D;D;P	0.78314	0.991;0.975;0.707	D	0.86144	0.1583	9	.	.	.	.	19.6752	0.95928	0.0:0.0:1.0:0.0	.	642;642;705	A8MYT4;B4DPV9;Q8NEB9	.;.;PK3C3_HUMAN	T	705;642	ENSP00000262039:R705T;ENSP00000381845:R642T	.	R	+	2	0	PIK3C3	37877705	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.289000	0.96061	2.718000	0.92993	0.650000	0.86243	AGA	PIK3C3	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pirsf_PI3K_Vps34,pfscan_PI3/4_kinase_cat_dom	ENSG00000078142		0.343	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3C3	HGNC	protein_coding	OTTHUMT00000255804.1	124	0.00	0	G	NM_002647		39623707	39623707	+1	no_errors	ENST00000262039	ensembl	human	known	69_37n	missense	50	43.18	38	SNP	1.000	C
PIK3CA	5290	genome.wustl.edu	37	3	178928090	178928090	+	Silent	SNP	G	G	A	rs397517200		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:178928090G>A	ENST00000263967.3	+	8	1525	c.1368G>A	c.(1366-1368)ctG>ctA	p.L456L		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	456	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				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.H450fs*9(1)		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)	AAGATTTGCTGAACCCTATTG	0.333		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1	Complex - frameshift(1)	endometrium(1)											138.0	129.0	132.0					3																	178928090		1825	4089	5914	-	-	-	SO:0001819	synonymous_variant	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1368G>A	3.37:g.178928090G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CW1|Q99762	Silent	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.L456	ENST00000263967.3	37	c.1368	CCDS43171.1	3																																																																																			PIK3CA	-	pfam_PI3K_C2_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB	ENSG00000121879		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	152	0.00	0	G			178928090	178928090	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	silent	164	14.58	28	SNP	0.998	A
PIK3CA	5290	genome.wustl.edu	37	3	178937419	178937419	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:178937419G>C	ENST00000263967.3	+	12	1964	c.1807G>C	c.(1807-1809)Gac>Cac	p.D603H		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	603	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				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)			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)	GGAACTTCTGGACTGTAATTA	0.368		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	0													62.0	57.0	59.0					3																	178937419		1815	4069	5884	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1807G>C	3.37:g.178937419G>C	ENSP00000263967:p.Asp603His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.D603H	ENST00000263967.3	37	c.1807	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	28.9	4.958423	0.92726	.	.	ENSG00000121879	ENST00000263967	T	0.66099	-0.19	5.97	5.97	0.96955	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.67249	0.2873	M	0.66560	2.04	0.80722	D	1	B	0.30068	0.267	B	0.34385	0.181	T	0.65619	-0.6124	10	0.56958	D	0.05	5.3243	20.4324	0.99085	0.0:0.0:1.0:0.0	.	603	P42336	PK3CA_HUMAN	H	603	ENSP00000263967:D603H	ENSP00000263967:D603H	D	+	1	0	PIK3CA	180420113	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.833000	0.97629	0.585000	0.79938	GAC	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.368	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	71	0.00	0	G			178937419	178937419	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	91	14.95	16	SNP	1.000	C
PIK3CB	5291	genome.wustl.edu	37	3	138474622	138474622	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:138474622G>C	ENST00000477593.1	-	3	444	c.371C>G	c.(370-372)tCa>tGa	p.S124*	PIK3CB_ENST00000289153.2_Nonsense_Mutation_p.S124*			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	124					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)	TCCAATTTTTGAGTCTAATTT	0.289																																						dbGAP											0													70.0	72.0	71.0					3																	138474622		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				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.371C>G	3.37:g.138474622G>C	ENSP00000418143:p.Ser124*	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DNF0|Q24JU2	Nonsense_Mutation	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.S124*	ENST00000477593.1	37	c.371	CCDS3104.1	3	.	.	.	.	.	.	.	.	.	.	G	26.3	4.725713	0.89298	.	.	ENSG00000051382	ENST00000477593;ENST00000289153;ENST00000483968	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-10.987	19.442	0.94824	0.0:0.0:1.0:0.0	.	.	.	.	X	124	.	ENSP00000289153:S124X	S	-	2	0	PIK3CB	139957312	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.360000	0.97119	2.591000	0.87537	0.585000	0.79938	TCA	PIK3CB	-	NULL	ENSG00000051382		0.289	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3CB	HGNC	protein_coding	OTTHUMT00000358019.1	73	0.00	0	G			138474622	138474622	-1	no_errors	ENST00000289153	ensembl	human	known	69_37n	nonsense	61	23.75	19	SNP	1.000	C
PIK3CA	5290	genome.wustl.edu	37	3	178951910	178951910	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:178951910C>G	ENST00000263967.3	+	21	3122	c.2965C>G	c.(2965-2967)Cta>Gta	p.L989V	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	989	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				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.L989I(1)		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)	CAAGGCTTATCTAGCTATTCG	0.373		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1	Substitution - Missense(1)	endometrium(1)											121.0	111.0	114.0					3																	178951910		1872	4098	5970	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.2965C>G	3.37:g.178951910C>G	ENSP00000263967:p.Leu989Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.L989V	ENST00000263967.3	37	c.2965	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	C	14.73	2.624091	0.46840	.	.	ENSG00000121879	ENST00000263967	T	0.76316	-1.01	6.07	5.03	0.67393	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.64402	D	0.000002	D	0.85579	0.5729	M	0.74647	2.275	0.80722	D	1	D	0.69078	0.997	D	0.67725	0.953	D	0.84245	0.0474	10	0.40728	T	0.16	-11.8723	12.6071	0.56529	0.0:0.8607:0.0:0.1393	.	989	P42336	PK3CA_HUMAN	V	989	ENSP00000263967:L989V	ENSP00000263967:L989V	L	+	1	2	PIK3CA	180434604	0.690000	0.27699	0.998000	0.56505	0.992000	0.81027	0.808000	0.27154	2.890000	0.99128	0.585000	0.79938	CTA	PIK3CA	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.373	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	99	0.00	0	C			178951910	178951910	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	91	14.15	15	SNP	0.999	G
PIK3R3	8503	genome.wustl.edu	37	1	46509513	46509513	+	Silent	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:46509513G>T	ENST00000262741.5	-	10	1907	c.1218C>A	c.(1216-1218)atC>atA	p.I406I	PIK3R3_ENST00000488808.1_5'UTR|PIK3R3_ENST00000372006.1_Silent_p.I406I|PIK3R3_ENST00000420542.1_Silent_p.I406I|PIK3R3_ENST00000354242.4_Silent_p.I347I|PIK3R3_ENST00000423209.1_Silent_p.I347I|PIK3R3_ENST00000340332.6_Silent_p.I311I|RP4-533D7.4_ENST00000450004.1_RNA|PIK3R3_ENST00000540385.1_Silent_p.I452I	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	406	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)				Isoprenaline(DB01064)	CAGTGCTGTAGATCACACAGT	0.488																																						dbGAP											0													105.0	90.0	95.0					1																	46509513		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC021622	CCDS529.1	1p34.1	2013-02-14	2008-02-04		ENSG00000117461	ENSG00000117461		"""SH2 domain containing"""	8981	protein-coding gene	gene with protein product		606076				9524259	Standard	NM_003629		Approved	p55	uc001cpb.4	Q92569	OTTHUMG00000008096	ENST00000262741.5:c.1218C>A	1.37:g.46509513G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9C1|D3DQ12|O60482|Q5T4P1|Q5T4P2	Silent	SNP	pfam_SH2,smart_SH2,pfscan_SH2,prints_PI3kinase_P85,prints_SH2	p.I452	ENST00000262741.5	37	c.1356	CCDS529.1	1																																																																																			PIK3R3	-	pfam_SH2,smart_SH2,pfscan_SH2,prints_PI3kinase_P85,prints_SH2	ENSG00000117461		0.488	PIK3R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R3	HGNC	protein_coding	OTTHUMT00000022171.1	70	0.00	0	G	NM_003629		46509513	46509513	-1	no_errors	ENST00000540385	ensembl	human	known	69_37n	silent	70	20.45	18	SNP	1.000	T
PIK3R5	23533	genome.wustl.edu	37	17	8789614	8789614	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:8789614G>C	ENST00000447110.1	-	14	2184	c.2060C>G	c.(2059-2061)aCg>aGg	p.T687R	PIK3R5_ENST00000581552.1_Missense_Mutation_p.T687R|PIK3R5_ENST00000584803.1_Missense_Mutation_p.T686R	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	687	Interaction with beta-gamma G protein dimers. {ECO:0000250}.				blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GATCTCTGTCGTCTTCTCCCC	0.582																																					NSCLC(18;589 615 7696 20311 50332)	dbGAP											0													110.0	83.0	92.0					17																	8789614		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.2060C>G	17.37:g.8789614G>C	ENSP00000392812:p.Thr687Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Missense_Mutation	SNP	pfam_PI3K_1B_gamma_p101_su	p.T687R	ENST00000447110.1	37	c.2060	CCDS11147.1	17	.	.	.	.	.	.	.	.	.	.	G	6.490	0.458554	0.12342	.	.	ENSG00000141506	ENST00000269300;ENST00000447110	T	0.78003	-1.14	5.05	-0.539	0.11865	.	0.439791	0.25124	N	0.032950	T	0.48333	0.1494	N	0.11560	0.145	0.20403	N	0.999903	B	0.02656	0.0	B	0.09377	0.004	T	0.16276	-1.0408	10	0.24483	T	0.36	-7.0071	0.5006	0.00579	0.3421:0.1257:0.2757:0.2565	.	687	Q8WYR1	PI3R5_HUMAN	R	687	ENSP00000392812:T687R	ENSP00000269300:T687R	T	-	2	0	PIK3R5	8730339	0.101000	0.21875	0.518000	0.27811	0.522000	0.34438	0.602000	0.24134	0.148000	0.19059	0.563000	0.77884	ACG	PIK3R5	-	pfam_PI3K_1B_gamma_p101_su	ENSG00000141506		0.582	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PIK3R5	HGNC	protein_coding	OTTHUMT00000227003.2	44	0.00	0	G	NM_014308		8789614	8789614	-1	no_errors	ENST00000447110	ensembl	human	known	69_37n	missense	64	12.33	9	SNP	0.222	C
PIKFYVE	200576	genome.wustl.edu	37	2	209163367	209163367	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:209163367C>T	ENST00000264380.4	+	8	1072	c.914C>T	c.(913-915)tCa>tTa	p.S305L	PIKFYVE_ENST00000392202.3_Missense_Mutation_p.S208L|PIKFYVE_ENST00000407449.1_Missense_Mutation_p.S305L|PIKFYVE_ENST00000308862.6_Missense_Mutation_p.S219L	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	305					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						ATTTCCAGATCAGCCAGCATT	0.358																																						dbGAP											0													104.0	94.0	97.0					2																	209163367		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.914C>T	2.37:g.209163367C>T	ENSP00000264380:p.Ser305Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	pfam_PInositol-4-P-5-kinase_core,pfam_Cpn60/TCP-1,pfam_DEP_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,smart_DEP_dom,smart_PInositol-4P-5-kinase_core_sub,pfscan_DEP_dom,pfscan_Znf_FYVE-rel	p.S305L	ENST00000264380.4	37	c.914	CCDS2382.1	2	.	.	.	.	.	.	.	.	.	.	C	34	5.412066	0.96072	.	.	ENSG00000115020	ENST00000392202;ENST00000264380;ENST00000407449;ENST00000308862;ENST00000452564	T;T;T	0.69806	1.31;-0.43;1.39	5.53	5.53	0.82687	.	0.153041	0.45606	D	0.000343	T	0.73273	0.3566	N	0.24115	0.695	0.80722	D	1	D;D;D;D;D	0.63880	0.993;0.993;0.978;0.967;0.981	D;D;P;P;D	0.72338	0.977;0.977;0.852;0.879;0.962	T	0.74598	-0.3612	10	0.51188	T	0.08	-11.7917	19.8143	0.96560	0.0:1.0:0.0:0.0	.	305;305;219;305;208	Q9Y2I7;E9PDH4;Q9Y2I7-3;Q08AR7;Q9Y2I7-2	FYV1_HUMAN;.;.;.;.	L	208;305;305;219;305	ENSP00000264380:S305L;ENSP00000384356:S305L;ENSP00000405736:S305L	ENSP00000264380:S305L	S	+	2	0	PIKFYVE	208871612	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.247000	0.78257	2.747000	0.94245	0.650000	0.86243	TCA	PIKFYVE	-	NULL	ENSG00000115020		0.358	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIKFYVE	HGNC	protein_coding	OTTHUMT00000256477.2	169	0.00	0	C	NM_015040		209163367	209163367	+1	no_errors	ENST00000264380	ensembl	human	known	69_37n	missense	159	17.62	34	SNP	1.000	T
PIP5K1A	8394	genome.wustl.edu	37	1	151171555	151171555	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:151171555C>T	ENST00000368888.4	+	1	505	c.83C>T	c.(82-84)tCa>tTa	p.S28L	PIP5K1A_ENST00000441902.2_Missense_Mutation_p.S28L|PIP5K1A_ENST00000409426.1_Missense_Mutation_p.S28L|PIP5K1A_ENST00000368890.4_Missense_Mutation_p.S28L	NM_001135638.1	NP_001129110.1	Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	28					actin cytoskeleton reorganization (GO:0031532)|activation of Rac GTPase activity (GO:0032863)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|fibroblast migration (GO:0010761)|focal adhesion assembly (GO:0048041)|glycerophospholipid metabolic process (GO:0006650)|keratinocyte differentiation (GO:0030216)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|protein targeting to plasma membrane (GO:0072661)|ruffle assembly (GO:0097178)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|kinase binding (GO:0019900)			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			ACCTTGTCCTCAGGTAAGCCC	0.612																																					Pancreas(80;36 1443 2325 16095 21302)	dbGAP											0													72.0	79.0	77.0					1																	151171555		2203	4300	6503	-	-	-	SO:0001583	missense	0			U78575	CCDS990.1, CCDS44219.1, CCDS44220.1, CCDS44221.1	1q21.3	2010-04-08			ENSG00000143398	ENSG00000143398			8994	protein-coding gene	gene with protein product		603275				8955136, 10828584	Standard	NM_003557		Approved		uc001exj.3	Q99755	OTTHUMG00000012351	ENST00000368888.4:c.83C>T	1.37:g.151171555C>T	ENSP00000357883:p.Ser28Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4Q0|B4DIN0|Q99754|Q99756	Missense_Mutation	SNP	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	p.S28L	ENST00000368888.4	37	c.83	CCDS44219.1	1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.612888	0.46631	.	.	ENSG00000143398	ENST00000349792;ENST00000409426;ENST00000441902;ENST00000368890;ENST00000424999;ENST00000368888	T;T;T;T;T	0.31769	1.73;1.72;1.48;1.52;1.72	4.46	3.53	0.40419	.	3.295970	0.01114	N	0.005655	T	0.10852	0.0265	N	0.16478	0.41	0.80722	D	1	B;B;B;B	0.20261	0.02;0.013;0.043;0.013	B;B;B;B	0.21917	0.023;0.015;0.011;0.037	T	0.33548	-0.9864	10	0.36615	T	0.2	.	8.4772	0.33021	0.0:0.891:0.0:0.109	.	28;28;28;28	Q99755-4;Q99755-2;Q99755;Q99755-3	.;.;PI51A_HUMAN;.	L	28	ENSP00000271663:S28L;ENSP00000386432:S28L;ENSP00000415648:S28L;ENSP00000357885:S28L;ENSP00000357883:S28L	ENSP00000271663:S28L	S	+	2	0	PIP5K1A	149438179	0.702000	0.27816	0.976000	0.42696	0.130000	0.20726	1.107000	0.31110	2.328000	0.79073	0.462000	0.41574	TCA	PIP5K1A	-	NULL	ENSG00000143398		0.612	PIP5K1A-003	KNOWN	basic|CCDS	protein_coding	PIP5K1A	HGNC	protein_coding	OTTHUMT00000034425.2	110	0.00	0	C	NM_003557		151171555	151171555	+1	no_errors	ENST00000368888	ensembl	human	known	69_37n	missense	100	18.03	22	SNP	0.941	T
PIP5K1C	23396	genome.wustl.edu	37	19	3638912	3638912	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:3638912C>T	ENST00000335312.3	-	16	1978	c.1890G>A	c.(1888-1890)gaG>gaA	p.E630E	PIP5K1C_ENST00000539785.1_Silent_p.E630E|PIP5K1C_ENST00000537021.1_Silent_p.E630E|PIP5K1C_ENST00000589578.1_Silent_p.E630E	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	630					actin cytoskeleton organization (GO:0030036)|adherens junction assembly (GO:0034333)|axon guidance (GO:0007411)|clathrin-mediated endocytosis (GO:0072583)|cytoskeletal anchoring at plasma membrane (GO:0007016)|neutrophil chemotaxis (GO:0030593)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet aggregation (GO:0070527)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle exocytosis (GO:0016079)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		GCGCGTCCTCCTCGTCCGAGG	0.667																																					Esophageal Squamous(135;99 1744 12852 27186 39851)	dbGAP											0													61.0	60.0	61.0					19																	3638912		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AB011161	CCDS32872.1, CCDS56074.1, CCDS74257.1	19p13.3	2012-10-02			ENSG00000186111	ENSG00000186111			8996	protein-coding gene	gene with protein product		606102				9535851	Standard	NM_001195733		Approved	PIP5Kgamma, KIAA0589, LCCS3	uc002lyj.2	O60331	OTTHUMG00000180870	ENST00000335312.3:c.1890G>A	19.37:g.3638912C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z9E7|C6GIJ7|C6GIJ8|Q7LE07	Silent	SNP	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	p.E630	ENST00000335312.3	37	c.1890	CCDS32872.1	19																																																																																			PIP5K1C	-	NULL	ENSG00000186111		0.667	PIP5K1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PIP5K1C	HGNC	protein_coding	OTTHUMT00000453432.2	29	0.00	0	C	NM_012398		3638912	3638912	-1	no_errors	ENST00000537021	ensembl	human	known	69_37n	silent	14	39.13	9	SNP	1.000	T
PITHD1	57095	genome.wustl.edu	37	1	24112196	24112196	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:24112196G>A	ENST00000246151.4	+	4	463	c.352G>A	c.(352-354)Gat>Aat	p.D118N	PITHD1_ENST00000374524.1_Missense_Mutation_p.D5N	NM_020362.4	NP_065095.2	Q9GZP4	PITH1_HUMAN	PITH (C-terminal proteasome-interacting domain of thioredoxin-like) domain containing 1	118	PITH. {ECO:0000255|PROSITE- ProRule:PRU00864}.					nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	6						GTCCTTTGATGATACAGAAAG	0.393																																						dbGAP											0													91.0	86.0	87.0					1																	24112196		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS240.1	1p36.11	2011-02-21	2011-02-21	2011-02-21	ENSG00000057757	ENSG00000057757			25022	protein-coding gene	gene with protein product	"""TXNL1 C-terminal like"""		"""chromosome 1 open reading frame 128"""	C1orf128		12477932	Standard	NM_020362		Approved	HT014, TXNL1CL	uc001bhq.3	Q9GZP4	OTTHUMG00000002960	ENST00000246151.4:c.352G>A	1.37:g.24112196G>A	ENSP00000246151:p.Asp118Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7J4|Q5QPN6|Q5QPN7|Q9NRI8	Missense_Mutation	SNP	pfam_PITH_dom,superfamily_Galactose-bd-like	p.D118N	ENST00000246151.4	37	c.352	CCDS240.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.905332	0.97087	.	.	ENSG00000057757	ENST00000246151;ENST00000415372;ENST00000374524	.	.	.	5.98	5.98	0.97165	Proteasome-interacting thioredoxin-like domain, C-terminal (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.67392	0.2888	L	0.37507	1.11	0.80722	D	1	P	0.40066	0.701	P	0.51777	0.679	T	0.57934	-0.7725	9	0.22706	T	0.39	0.7699	20.4434	0.99119	0.0:0.0:1.0:0.0	.	118	Q9GZP4	PITH1_HUMAN	N	118;25;5	.	ENSP00000246151:D118N	D	+	1	0	PITHD1	23984783	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.454000	0.97621	2.838000	0.97847	0.655000	0.94253	GAT	PITHD1	-	pfam_PITH_dom,superfamily_Galactose-bd-like	ENSG00000057757		0.393	PITHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PITHD1	HGNC	protein_coding	OTTHUMT00000008243.1	77	0.00	0	G	NM_020362		24112196	24112196	+1	no_errors	ENST00000246151	ensembl	human	known	69_37n	missense	64	22.89	19	SNP	1.000	A
PITPNC1	26207	genome.wustl.edu	37	17	65688999	65688999	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:65688999G>C	ENST00000581322.1	+	9	994	c.994G>C	c.(994-996)Gag>Cag	p.E332Q	PITPNC1_ENST00000580974.1_3'UTR|PITPNC1_ENST00000335257.6_Missense_Mutation_p.E332Q|PITPNC1_ENST00000299954.9_3'UTR			Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein, cytoplasmic 1	332					phospholipid transport (GO:0015914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)			breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			GCCCAAATCTGAGTAACTTTA	0.388																																						dbGAP											0													58.0	59.0	59.0					17																	65688999		1800	4060	5860	-	-	-	SO:0001583	missense	0			AF171102	CCDS58587.1, CCDS58588.1	17q24.3	2008-02-05							21045	protein-coding gene	gene with protein product		605134				10531358	Standard	NM_012417		Approved	RDGBB1, RDGBB, RDGB-BETA	uc002jgc.4	Q9UKF7		ENST00000581322.1:c.994G>C	17.37:g.65688999G>C	ENSP00000464006:p.Glu332Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K473|J3QR20|Q96I07	Missense_Mutation	SNP	pfam_PI_transfer,prints_PI_transfer	p.E332Q	ENST00000581322.1	37	c.994	CCDS58588.1	17	.	.	.	.	.	.	.	.	.	.	G	21.2	4.107710	0.77096	.	.	ENSG00000154217	ENST00000335257	T	0.49720	0.77	5.87	5.87	0.94306	.	0.505114	0.20690	N	0.087467	T	0.39627	0.1085	N	0.24115	0.695	0.80722	D	1	B	0.26635	0.155	B	0.22386	0.039	T	0.22452	-1.0216	10	0.66056	D	0.02	-8.2384	19.5705	0.95413	0.0:0.0:1.0:0.0	.	332	Q9UKF7	PITC1_HUMAN	Q	332	ENSP00000335618:E332Q	ENSP00000335618:E332Q	E	+	1	0	PITPNC1	63119461	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	4.672000	0.61597	2.941000	0.99782	0.655000	0.94253	GAG	PITPNC1	-	NULL	ENSG00000154217		0.388	PITPNC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PITPNC1	HGNC	protein_coding	OTTHUMT00000447194.1	35	0.00	0	G	NM_012417		65688999	65688999	+1	no_errors	ENST00000335257	ensembl	human	known	69_37n	missense	65	18.75	15	SNP	1.000	C
PITRM1	10531	genome.wustl.edu	37	10	3190235	3190235	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:3190235G>A	ENST00000224949.4	-	18	2047	c.2013C>T	c.(2011-2013)ctC>ctT	p.L671L	PITRM1-AS1_ENST00000441377.1_RNA|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000380994.1_Silent_p.L229L|PITRM1_ENST00000464395.1_5'UTR|PITRM1_ENST00000380989.2_Silent_p.L672L|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000451104.2_Intron			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	671					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						GATCCAGGCAGAGAGAGGAGA	0.448																																						dbGAP											0													116.0	113.0	114.0					10																	3190235		1951	4156	6107	-	-	-	SO:0001819	synonymous_variant	0			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.2013C>T	10.37:g.3190235G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Silent	SNP	pfam_Peptidase_M16C_assoc,pfam_Peptidase_M16_C,pfam_Pept_M16_N,superfamily_Metalloenz_metal-bd	p.L672	ENST00000224949.4	37	c.2016	CCDS59208.1	10																																																																																			PITRM1	-	pfam_Peptidase_M16C_assoc,superfamily_Metalloenz_metal-bd	ENSG00000107959		0.448	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	PITRM1	HGNC	protein_coding	OTTHUMT00000046469.2	126	0.00	0	G			3190235	3190235	-1	no_errors	ENST00000380989	ensembl	human	known	69_37n	silent	105	25.53	36	SNP	1.000	A
PITRM1	10531	genome.wustl.edu	37	10	3202519	3202519	+	Missense_Mutation	SNP	G	G	C	rs565029700		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:3202519G>C	ENST00000224949.4	-	8	829	c.795C>G	c.(793-795)ttC>ttG	p.F265L	PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000380994.1_5'Flank|PITRM1_ENST00000380989.2_Missense_Mutation_p.F265L|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000451104.2_Missense_Mutation_p.F233L			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	265					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						CGTACGTGAAGAACCTAAAAT	0.398																																						dbGAP											0													73.0	72.0	72.0					10																	3202519		1843	4093	5936	-	-	-	SO:0001583	missense	0			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.795C>G	10.37:g.3202519G>C	ENSP00000224949:p.Phe265Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Missense_Mutation	SNP	pfam_Peptidase_M16C_assoc,pfam_Peptidase_M16_C,pfam_Pept_M16_N,superfamily_Metalloenz_metal-bd	p.F265L	ENST00000224949.4	37	c.795	CCDS59208.1	10	.	.	.	.	.	.	.	.	.	.	g	15.96	2.987807	0.53934	.	.	ENSG00000107959	ENST00000224949;ENST00000380980;ENST00000380989;ENST00000451104	T;T;T	0.04706	3.57;3.57;3.57	5.67	4.75	0.60458	Peptidase M16, C-terminal (1);Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.044872	0.85682	D	0.000000	T	0.20981	0.0505	M	0.80746	2.51	0.48571	D	0.999674	B;B;D;D;D;D	0.76494	0.326;0.193;0.994;0.999;0.999;0.999	B;B;D;D;D;D	0.78314	0.145;0.241;0.95;0.991;0.991;0.991	T	0.00033	-1.2269	10	0.59425	D	0.04	.	12.7108	0.57088	0.1469:0.0:0.8531:0.0	.	258;233;265;265;265;258	E9PDX6;E7ES23;Q5JRX3-2;C9JSL2;Q5JRX3;B4DH07	.;.;.;.;PREP_HUMAN;.	L	265;258;265;233	ENSP00000224949:F265L;ENSP00000370377:F265L;ENSP00000401201:F233L	ENSP00000224949:F265L	F	-	3	2	PITRM1	3192519	1.000000	0.71417	1.000000	0.80357	0.229000	0.25112	1.751000	0.38339	2.820000	0.97059	0.655000	0.94253	TTC	PITRM1	-	pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd	ENSG00000107959		0.398	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	PITRM1	HGNC	protein_coding	OTTHUMT00000046469.2	92	0.00	0	G			3202519	3202519	-1	no_errors	ENST00000380989	ensembl	human	known	69_37n	missense	65	26.14	23	SNP	1.000	C
PIWIL1	9271	genome.wustl.edu	37	12	130827159	130827159	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:130827159G>C	ENST00000245255.3	+	2	295	c.23G>C	c.(22-24)aGa>aCa	p.R8T		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	8					gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		GCCCGAGCCAGAGCCAGAGGA	0.493																																						dbGAP											0													29.0	39.0	36.0					12																	130827159		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"""Argonaute/PIWI family"""	9007	protein-coding gene	gene with protein product		605571	"""piwi (Drosophila)-like 1"", ""piwi-like 1 (Drosophila)"""			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.23G>C	12.37:g.130827159G>C	ENSP00000245255:p.Arg8Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ,pfam_GAGE,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.R8T	ENST00000245255.3	37	c.23	CCDS9268.1	12	.	.	.	.	.	.	.	.	.	.	G	20.5	3.994674	0.74703	.	.	ENSG00000125207	ENST00000245255;ENST00000546060;ENST00000539400;ENST00000539995;ENST00000535956;ENST00000542723	T;T;T;T;T;T	0.08458	3.09;3.09;3.09;3.09;3.09;3.09	5.22	5.22	0.72569	.	0.046336	0.85682	D	0.000000	T	0.30448	0.0765	M	0.73598	2.24	0.80722	D	1	D;D	0.76494	0.991;0.999	D;D	0.80764	0.991;0.994	T	0.02121	-1.1210	10	0.72032	D	0.01	-8.5102	17.3367	0.87283	0.0:0.0:1.0:0.0	.	8;8	Q96J94;Q96J94-2	PIWL1_HUMAN;.	T	8	ENSP00000245255:R8T;ENSP00000442086:R8T;ENSP00000440677:R8T;ENSP00000439096:R8T;ENSP00000444353:R8T;ENSP00000438582:R8T	ENSP00000245255:R8T	R	+	2	0	PIWIL1	129393112	1.000000	0.71417	0.879000	0.34478	0.978000	0.69477	7.867000	0.87062	2.421000	0.82119	0.655000	0.94253	AGA	PIWIL1	-	pfam_GAGE	ENSG00000125207		0.493	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIWIL1	HGNC	protein_coding	OTTHUMT00000399510.1	41	0.00	0	G			130827159	130827159	+1	no_errors	ENST00000245255	ensembl	human	known	69_37n	missense	45	18.18	10	SNP	1.000	C
PIWIL2	55124	genome.wustl.edu	37	8	22141726	22141726	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:22141726G>A	ENST00000454009.2	+	6	1193	c.684G>A	c.(682-684)ctG>ctA	p.L228L	PIWIL2_ENST00000521356.1_Silent_p.L228L|PIWIL2_ENST00000356766.6_Silent_p.L228L	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	228					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		CTTTGGGACTGAACCTCGTCA	0.343																																						dbGAP											0													142.0	124.0	130.0					8																	22141726		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"""Argonaute/PIWI family"""	17644	protein-coding gene	gene with protein product	"""Hiwi-like"", ""cancer/testis antigen 80"""	610312	"""piwi-like 2 (Drosophila)"""			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.684G>A	8.37:g.22141726G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Silent	SNP	pfam_Piwi,pfam_PAZ,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.L228	ENST00000454009.2	37	c.684	CCDS6029.1	8																																																																																			PIWIL2	-	superfamily_PAZ	ENSG00000197181		0.343	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	PIWIL2	HGNC	protein_coding	OTTHUMT00000375438.1	82	0.00	0	G			22141726	22141726	+1	no_errors	ENST00000356766	ensembl	human	known	69_37n	silent	13	71.11	32	SNP	1.000	A
PKD1	5310	genome.wustl.edu	37	16	2152430	2152430	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:2152430G>A	ENST00000262304.4	-	25	9361	c.9153C>T	c.(9151-9153)ttC>ttT	p.F3051F	PKD1_ENST00000561991.1_5'Flank|PKD1_ENST00000423118.1_Silent_p.F3051F	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3051	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GGCTGGCGCCGAAGGCGGTGA	0.682																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.9153C>T	16.37:g.2152430G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q15140|Q15141	Missense_Mutation	SNP	pfam_LipOase_LH2,pfam_GPS_dom,superfamily_Lipase_LipOase,smart_GPS_dom,smart_LipOase_LH2,pfscan_GPS_dom,pfscan_LipOase_LH2,pfscan_REJ-like,prints_PKD_1	p.S252L	ENST00000262304.4	37	c.755	CCDS32369.1	16																																																																																			PKD1	-	pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom	ENSG00000008710		0.682	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKD1	HGNC	protein_coding	OTTHUMT00000341688.1	15	0.00	0	G			2152430	2152430	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000567946	ensembl	human	novel	69_37n	missense	24	24.24	8	SNP	0.922	A
PKD1L1	168507	genome.wustl.edu	37	7	47870889	47870889	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:47870889C>A	ENST00000289672.2	-	42	6449	c.6399G>T	c.(6397-6399)tgG>tgT	p.W2133C		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2133					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CTGCAGAGCTCCACCAAGGCT	0.542																																						dbGAP											0													95.0	84.0	88.0					7																	47870889		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.6399G>T	7.37:g.47870889C>A	ENSP00000289672:p.Trp2133Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UWK1	Missense_Mutation	SNP	pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_LipOase_LH2,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like	p.W2133C	ENST00000289672.2	37	c.6399	CCDS34633.1	7	.	.	.	.	.	.	.	.	.	.	C	7.352	0.623080	0.14193	.	.	ENSG00000158683	ENST00000289672	T	0.22336	1.96	5.3	-5.41	0.02648	.	0.605504	0.14959	N	0.288464	T	0.11281	0.0275	L	0.29908	0.895	0.09310	N	1	B	0.18461	0.028	B	0.13407	0.009	T	0.14839	-1.0458	10	0.38643	T	0.18	0.2597	7.8685	0.29552	0.1038:0.6324:0.0:0.2638	.	2133	Q8TDX9	PK1L1_HUMAN	C	2133	ENSP00000289672:W2133C	ENSP00000289672:W2133C	W	-	3	0	PKD1L1	47837414	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.267000	0.00533	-0.991000	0.03476	-0.471000	0.05019	TGG	PKD1L1	-	NULL	ENSG00000158683		0.542	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD1L1	HGNC	protein_coding	OTTHUMT00000340974.1	35	0.00	0	C	NM_138295		47870889	47870889	-1	no_errors	ENST00000289672	ensembl	human	known	69_37n	missense	39	31.58	18	SNP	0.000	A
PKD1L2	114780	genome.wustl.edu	37	16	81214872	81214872	+	RNA	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:81214872C>T	ENST00000527937.1	-	0	60				PKD1L2_ENST00000531391.1_RNA|PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000525539.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CAGTTCCTCTCACAGCTGAAA	0.507																																						dbGAP											0													93.0	90.0	91.0					16																	81214872		2037	4195	6232	-	-	-			0			AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81214872C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	pfam_Lectin_gal-bd_dom,pfam_C-type_lectin,pfam_PKD/REJ-like,superfamily_C-type_lectin_fold,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_PKD_dom,smart_C-type_lectin,pfscan_C-type_lectin,pfscan_Lectin_gal-bd_dom,pfscan_REJ-like	p.E668K	ENST00000527937.1	37	c.2002		16	.	.	.	.	.	.	.	.	.	.	C	14.39	2.521814	0.44866	.	.	ENSG00000166473	ENST00000337114	T	0.68765	-0.35	4.9	3.93	0.45458	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	0.349068	0.28841	N	0.013972	T	0.52008	0.1708	.	.	.	0.24296	N	0.995146	P;B	0.41524	0.753;0.111	B;B	0.33454	0.164;0.081	T	0.45991	-0.9223	9	0.40728	T	0.16	-13.8485	12.9554	0.58424	0.0:0.8375:0.1625:0.0	.	668;668	Q7Z442-3;Q7Z442	.;PK1L2_HUMAN	K	668	ENSP00000337397:E668K	ENSP00000337397:E668K	E	-	1	0	PKD1L2	79772373	0.984000	0.35163	0.956000	0.39512	0.533000	0.34776	1.662000	0.37418	1.171000	0.42768	0.563000	0.77884	GAG	PKD1L2	-	pfam_PKD/REJ-like,pfscan_REJ-like	ENSG00000166473		0.507	PKD1L2-007	KNOWN	basic|exp_conf	protein_coding	PKD1L2	HGNC	polymorphic_pseudogene	OTTHUMT00000387978.1	89	0.00	0	C			81214872	81214872	-1	no_errors	ENST00000337114	ensembl	human	known	69_37n	missense	56	42.27	41	SNP	0.990	T
PKD1L3	342372	genome.wustl.edu	37	16	72001871	72001871	+	RNA	SNP	G	G	A	rs372942015	byFrequency	TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:72001871G>A	ENST00000534738.1	-	0	2219							Q7Z443	PK1L3_HUMAN	polycystic kidney disease 1-like 3						cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|neuropeptide signaling pathway (GO:0007218)|sensory perception of sour taste (GO:0050915)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)			autonomic_ganglia(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|lung(3)|skin(2)	22						GAAATTGAGCGCTGGGGTCAT	0.453																																						dbGAP											0													132.0	107.0	115.0					16																	72001871		692	1591	2283	-	-	-			0			AY164485	CCDS73912.1	16q22.2	2008-02-05				ENSG00000277481			21716	protein-coding gene	gene with protein product		607895				12782129	Standard	NM_181536		Approved		uc010vmm.2	Q7Z443			16.37:g.72001871G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000534738.1	37	NULL		16																																																																																			PKD1L3	-	-	ENSG00000187008		0.453	PKD1L3-001	KNOWN	basic	processed_transcript	PKD1L3	HGNC	processed_transcript	OTTHUMT00000387876.1	77	0.00	0	G	NM_181536		72001871	72001871	-1	no_errors	ENST00000335106	ensembl	human	known	69_37n	rna	66	26.67	24	SNP	0.000	A
PKD1L3	342372	genome.wustl.edu	37	16	72013720	72013720	+	RNA	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:72013720C>G	ENST00000534738.1	-	0	1362							Q7Z443	PK1L3_HUMAN	polycystic kidney disease 1-like 3						cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|neuropeptide signaling pathway (GO:0007218)|sensory perception of sour taste (GO:0050915)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)			autonomic_ganglia(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|lung(3)|skin(2)	22						TTCAAGAGCTCCTTCAAAGCT	0.448																																						dbGAP											0													99.0	76.0	83.0					16																	72013720		692	1591	2283	-	-	-			0			AY164485	CCDS73912.1	16q22.2	2008-02-05				ENSG00000277481			21716	protein-coding gene	gene with protein product		607895				12782129	Standard	NM_181536		Approved		uc010vmm.2	Q7Z443			16.37:g.72013720C>G		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000534738.1	37	NULL		16																																																																																			PKD1L3	-	-	ENSG00000187008		0.448	PKD1L3-001	KNOWN	basic	processed_transcript	PKD1L3	HGNC	processed_transcript	OTTHUMT00000387876.1	92	0.00	0	C	NM_181536		72013720	72013720	-1	no_errors	ENST00000335106	ensembl	human	known	69_37n	rna	95	14.41	16	SNP	0.898	G
PKD1L2	114780	genome.wustl.edu	37	16	81248664	81248664	+	RNA	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:81248664G>A	ENST00000525539.1	-	0	598				PKD1L2_ENST00000337114.4_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)	p.S200L(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CTCCAGATCTGAAGGACGCCC	0.652											OREG0023964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											2	Substitution - Missense(2)	upper_aerodigestive_tract(2)											17.0	22.0	21.0					16																	81248664		2009	4167	6176	-	-	-			0			AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81248664G>A		Somatic	1204	WXS	Illumina GAIIx	Phase_IV	Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	pfam_Lectin_gal-bd_dom,pfam_C-type_lectin,pfam_PKD/REJ-like,superfamily_C-type_lectin_fold,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_PKD_dom,smart_C-type_lectin,pfscan_C-type_lectin,pfscan_Lectin_gal-bd_dom,pfscan_REJ-like	p.S200L	ENST00000525539.1	37	c.599		16	.	.	.	.	.	.	.	.	.	.	G	8.661	0.900649	0.17686	.	.	ENSG00000166473	ENST00000337114	T	0.18502	2.21	4.67	4.67	0.58626	D-galactoside/L-rhamnose binding SUEL lectin domain (2);	1.910350	0.03083	N	0.158819	T	0.14527	0.0351	.	.	.	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.12156	0.006;0.007	T	0.11036	-1.0604	9	0.45353	T	0.12	-0.1246	6.4261	0.21770	0.1299:0.0:0.7016:0.1685	.	200;200	Q7Z442-3;Q7Z442	.;PK1L2_HUMAN	L	200	ENSP00000337397:S200L	ENSP00000337397:S200L	S	-	2	0	PKD1L2	79806165	0.006000	0.16342	0.706000	0.30403	0.021000	0.10359	1.571000	0.36450	2.132000	0.65825	0.650000	0.86243	TCA	PKD1L2	-	pfam_Lectin_gal-bd_dom,pfscan_Lectin_gal-bd_dom	ENSG00000166473		0.652	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	PKD1L2	HGNC	polymorphic_pseudogene	OTTHUMT00000387972.2	27	0.00	0	G			81248664	81248664	-1	no_errors	ENST00000337114	ensembl	human	known	69_37n	missense	39	15.22	7	SNP	0.020	A
PKDREJ	10343	genome.wustl.edu	37	22	46654366	46654366	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:46654366G>A	ENST00000253255.5	-	1	4853	c.4854C>T	c.(4852-4854)ttC>ttT	p.F1618F		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1618					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CTGACTGACAGAATGAACAAA	0.383																																						dbGAP											0													87.0	83.0	85.0					22																	46654366		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.4854C>T	22.37:g.46654366G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AJY3|O95850	Silent	SNP	pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_Ion_trans_dom,superfamily_Lipase_LipOase,smart_GPS_dom,smart_LipOase_LH2,pfscan_LipOase_LH2,pfscan_REJ-like,prints_PKD_2	p.F1618	ENST00000253255.5	37	c.4854	CCDS14073.1	22																																																																																			PKDREJ	-	NULL	ENSG00000130943		0.383	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKDREJ	HGNC	protein_coding	OTTHUMT00000318466.1	110	0.00	0	G	NM_006071		46654366	46654366	-1	no_errors	ENST00000253255	ensembl	human	known	69_37n	silent	86	38.13	53	SNP	0.005	A
PKDREJ	10343	genome.wustl.edu	37	22	46655190	46655190	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:46655190G>A	ENST00000253255.5	-	1	4029	c.4030C>T	c.(4030-4032)Cac>Tac	p.H1344Y		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1344	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TGGGTAACGTGAAATGTTCTG	0.383																																						dbGAP											0													97.0	92.0	93.0					22																	46655190		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.4030C>T	22.37:g.46655190G>A	ENSP00000253255:p.His1344Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AJY3|O95850	Missense_Mutation	SNP	pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_Ion_trans_dom,superfamily_Lipase_LipOase,smart_GPS_dom,smart_LipOase_LH2,pfscan_LipOase_LH2,pfscan_REJ-like,prints_PKD_2	p.H1344Y	ENST00000253255.5	37	c.4030	CCDS14073.1	22	.	.	.	.	.	.	.	.	.	.	G	0.178	-1.064525	0.01934	.	.	ENSG00000130943	ENST00000253255	T	0.34275	1.37	5.09	1.56	0.23342	Lipoxygenase, LH2 (1);Lipase/lipooxygenase, PLAT/LH2 (1);	2.272200	0.01679	N	0.026033	T	0.15132	0.0365	N	0.03154	-0.405	0.09310	N	1	B	0.15719	0.014	B	0.12837	0.008	T	0.32955	-0.9887	10	0.02654	T	1	-5.0E-4	4.5679	0.12196	0.2731:0.2892:0.4377:0.0	.	1344	Q9NTG1	PKDRE_HUMAN	Y	1344	ENSP00000253255:H1344Y	ENSP00000253255:H1344Y	H	-	1	0	PKDREJ	45033854	0.010000	0.17322	0.013000	0.15412	0.190000	0.23558	0.025000	0.13577	0.634000	0.30469	0.511000	0.50034	CAC	PKDREJ	-	superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2	ENSG00000130943		0.383	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKDREJ	HGNC	protein_coding	OTTHUMT00000318466.1	76	0.00	0	G	NM_006071		46655190	46655190	-1	no_errors	ENST00000253255	ensembl	human	known	69_37n	missense	72	19.10	17	SNP	0.011	A
PKHD1	5314	genome.wustl.edu	37	6	51927319	51927319	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:51927319G>A	ENST00000371117.3	-	14	1391	c.1116C>T	c.(1114-1116)ttC>ttT	p.F372F	AL590391.1_ENST00000408630.2_RNA|PKHD1_ENST00000340994.4_Silent_p.F372F	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	372			F -> L (in ARPKD). {ECO:0000269|PubMed:16677362}.		cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CAACATACCTGAAAGGTTGTC	0.488																																						dbGAP											0			GRCh37	CM051123	PKHD1	M							124.0	117.0	119.0					6																	51927319		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.1116C>T	6.37:g.51927319G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1	p.F372	ENST00000371117.3	37	c.1116	CCDS4935.1	6																																																																																			PKHD1	-	NULL	ENSG00000170927		0.488	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	HGNC	protein_coding	OTTHUMT00000040893.1	74	0.00	0	G	NM_138694		51927319	51927319	-1	no_errors	ENST00000371117	ensembl	human	known	69_37n	silent	87	17.14	18	SNP	1.000	A
PKIA	5569	genome.wustl.edu	37	8	79510626	79510626	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:79510626G>A	ENST00000396418.2	+	3	493	c.7G>A	c.(7-9)Gat>Aat	p.D3N	PKIA_ENST00000518467.1_Missense_Mutation_p.D3N|PKIA_ENST00000352966.5_Missense_Mutation_p.D3N	NM_006823.3|NM_181839.2	NP_006814.1|NP_862822.1	P61925	IPKA_HUMAN	protein kinase (cAMP-dependent, catalytic) inhibitor alpha	3					negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cAMP-dependent protein kinase inhibitor activity (GO:0004862)|protein kinase A catalytic subunit binding (GO:0034236)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	6						AGCAATGACTGATGTGGAAAC	0.368																																						dbGAP											0													126.0	119.0	121.0					8																	79510626		2203	4300	6503	-	-	-	SO:0001583	missense	0			S76965	CCDS6222.1	8q21.13	2014-08-12			ENSG00000171033	ENSG00000171033			9017	protein-coding gene	gene with protein product		606059		PRKACN1		1770951	Standard	NM_006823		Approved		uc003ybb.3	P61925	OTTHUMG00000164618	ENST00000396418.2:c.7G>A	8.37:g.79510626G>A	ENSP00000379696:p.Asp3Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	P04541|Q6IAV2	Missense_Mutation	SNP	pfam_cAMP_dep_PKI,pirsf_cAMP_dep_PKI	p.D3N	ENST00000396418.2	37	c.7	CCDS6222.1	8	.	.	.	.	.	.	.	.	.	.	G	20.9	4.061616	0.76187	.	.	ENSG00000171033	ENST00000396418;ENST00000352966;ENST00000518467	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.82568	0.5065	.	.	.	0.58432	D	0.999993	D	0.69078	0.997	D	0.80764	0.994	T	0.82697	-0.0329	7	.	.	.	-1.2403	19.1925	0.93672	0.0:0.0:1.0:0.0	.	3	P61925	IPKA_HUMAN	N	3	.	.	D	+	1	0	PKIA	79673181	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.555000	0.90693	2.529000	0.85273	0.585000	0.79938	GAT	PKIA	-	pfam_cAMP_dep_PKI,pirsf_cAMP_dep_PKI	ENSG00000171033		0.368	PKIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKIA	HGNC	protein_coding	OTTHUMT00000379420.1	89	0.00	0	G			79510626	79510626	+1	no_errors	ENST00000352966	ensembl	human	known	69_37n	missense	99	18.85	23	SNP	1.000	A
PKHD1L1	93035	genome.wustl.edu	37	8	110413741	110413741	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:110413741C>G	ENST00000378402.5	+	14	1401	c.1297C>G	c.(1297-1299)Cat>Gat	p.H433D		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	433					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)			GATTGCATATCATTCTGCTAA	0.323										HNSCC(38;0.096)																												dbGAP											0													83.0	75.0	78.0					8																	110413741		1825	4079	5904	-	-	-	SO:0001583	missense	0			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.1297C>G	8.37:g.110413741C>G	ENSP00000367655:p.His433Asp	Somatic		WXS	Illumina GAIIx	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.H433D	ENST00000378402.5	37	c.1297	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	C	1.794	-0.478848	0.04414	.	.	ENSG00000205038	ENST00000378402	D	0.85556	-2.0	5.75	3.94	0.45596	PA14 (1);	0.131336	0.52532	D	0.000066	T	0.74831	0.3768	L	0.40543	1.245	0.23180	N	0.998162	B	0.33583	0.418	B	0.31614	0.133	T	0.63567	-0.6608	10	0.35671	T	0.21	.	5.0619	0.14560	0.1686:0.6589:0.0:0.1725	.	433	Q86WI1	PKHL1_HUMAN	D	433	ENSP00000367655:H433D	ENSP00000367655:H433D	H	+	1	0	PKHD1L1	110482917	1.000000	0.71417	1.000000	0.80357	0.254000	0.26022	1.505000	0.35736	0.757000	0.33036	-0.238000	0.12139	CAT	PKHD1L1	-	pfam_PA14,smart_PA14	ENSG00000205038		0.323	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	83	0.00	0	C	NM_177531		110413741	110413741	+1	no_errors	ENST00000378402	ensembl	human	known	69_37n	missense	63	14.86	11	SNP	1.000	G
PKLR	5313	genome.wustl.edu	37	1	155265252	155265252	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:155265252C>G	ENST00000342741.4	-	4	521	c.483G>C	c.(481-483)gaG>gaC	p.E161D	PKLR_ENST00000392414.3_Missense_Mutation_p.E130D	NM_000298.5	NP_000289.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	161					ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of cellular metabolic process (GO:0031325)|pyruvate biosynthetic process (GO:0042866)|response to ATP (GO:0033198)|response to cAMP (GO:0051591)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to nutrient (GO:0007584)|response to other organism (GO:0051707)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	CAGTGCGGATCTCCGGTCCCT	0.697																																						dbGAP											0													18.0	20.0	19.0					1																	155265252		2199	4294	6493	-	-	-	SO:0001583	missense	0			BC025737, M15465	CCDS1109.1, CCDS44240.1	1q22	2012-10-02			ENSG00000143627	ENSG00000143627	2.7.1.40		9020	protein-coding gene	gene with protein product		609712				3566732	Standard	NM_000298		Approved		uc001fkb.4	P30613	OTTHUMG00000035875	ENST00000342741.4:c.483G>C	1.37:g.155265252C>G	ENSP00000339933:p.Glu161Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	O75758|P11973	Missense_Mutation	SNP	pfam_Pyrv_Knase_brl,pfam_Pyrv_Knase_C,superfamily_Pyrv/PenolPyrv_Kinase,superfamily_Pyrv_Knase_C,superfamily_Pyrv_Knase-like_insert_dom,prints_Pyr_Knase,tigrfam_Pyr_Knase	p.E161D	ENST00000342741.4	37	c.483	CCDS1109.1	1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.111029	0.77210	.	.	ENSG00000143627	ENST00000423816;ENST00000392414;ENST00000342741;ENST00000271946	D;D	0.91945	-2.94;-2.94	4.14	4.14	0.48551	Pyruvate/Phosphoenolpyruvate kinase (2);Pyruvate kinase-like, insert domain (1);Pyruvate kinase, barrel (1);	0.000000	0.85682	D	0.000000	D	0.94978	0.8375	H	0.96398	3.815	0.58432	D	0.999997	P;P	0.47545	0.897;0.811	P;P	0.53266	0.722;0.582	D	0.95482	0.8561	10	0.87932	D	0	-31.6793	7.983	0.30194	0.0:0.8886:0.0:0.1114	.	161;152	P30613;B1AVT1	KPYR_HUMAN;.	D	186;130;161;75	ENSP00000376214:E130D;ENSP00000339933:E161D	ENSP00000271946:E75D	E	-	3	2	PKLR	153531876	1.000000	0.71417	0.990000	0.47175	0.814000	0.46013	1.678000	0.37586	2.296000	0.77279	0.573000	0.79308	GAG	PKLR	-	pfam_Pyrv_Knase_brl,superfamily_Pyrv/PenolPyrv_Kinase,superfamily_Pyrv_Knase-like_insert_dom,prints_Pyr_Knase,tigrfam_Pyr_Knase	ENSG00000143627		0.697	PKLR-001	KNOWN	basic|CCDS	protein_coding	PKLR	HGNC	protein_coding	OTTHUMT00000087407.2	13	0.00	0	C	NM_000298		155265252	155265252	-1	no_errors	ENST00000342741	ensembl	human	known	69_37n	missense	15	55.88	19	SNP	1.000	G
PKN3	29941	genome.wustl.edu	37	9	131469042	131469042	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:131469042G>A	ENST00000291906.4	+	4	855	c.462G>A	c.(460-462)ctG>ctA	p.L154L		NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	154					epithelial cell migration (GO:0010631)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						ACAGCCAGCTGAAGGTGGCCC	0.652																																						dbGAP											0													16.0	18.0	17.0					9																	131469042		2200	4295	6495	-	-	-	SO:0001819	synonymous_variant	0			AB019692	CCDS6908.1	9q34.13	2008-02-05			ENSG00000160447	ENSG00000160447			17999	protein-coding gene	gene with protein product		610714				10441506	Standard	NM_013355		Approved	PKNbeta	uc004bvw.3	Q6P5Z2	OTTHUMG00000020757	ENST00000291906.4:c.462G>A	9.37:g.131469042G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UM03	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom	p.L154	ENST00000291906.4	37	c.462	CCDS6908.1	9																																																																																			PKN3	-	pfam_HR1_rho-bd,superfamily_HR1_rho-bd,smart_HR1_rho-bd	ENSG00000160447		0.652	PKN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKN3	HGNC	protein_coding	OTTHUMT00000054487.1	15	0.00	0	G	NM_013355		131469042	131469042	+1	no_errors	ENST00000291906	ensembl	human	known	69_37n	silent	16	23.81	5	SNP	0.999	A
PKP2	5318	genome.wustl.edu	37	12	32955377	32955377	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:32955377C>T	ENST00000070846.6	-	11	2283	c.2259G>A	c.(2257-2259)ctG>ctA	p.L753L	PKP2_ENST00000340811.4_Silent_p.L709L	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	753					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					ACAGATTCCTCAGCAGCGAGA	0.453																																						dbGAP											0													166.0	162.0	163.0					12																	32955377		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"""Armadillo repeat containing"""	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.2259G>A	12.37:g.32955377C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Silent	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.L753	ENST00000070846.6	37	c.2259	CCDS8731.1	12																																																																																			PKP2	-	superfamily_ARM-type_fold,smart_Armadillo	ENSG00000057294		0.453	PKP2-002	KNOWN	basic|CCDS	protein_coding	PKP2	HGNC	protein_coding	OTTHUMT00000404449.1	60	0.00	0	C	NM_004572		32955377	32955377	-1	no_errors	ENST00000070846	ensembl	human	known	69_37n	silent	68	24.44	22	SNP	0.999	T
PLA1A	51365	genome.wustl.edu	37	3	119325795	119325795	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:119325795G>C	ENST00000273371.4	+	2	320	c.248G>C	c.(247-249)gGa>gCa	p.G83A	PLA1A_ENST00000494440.1_Missense_Mutation_p.G67A|PLA1A_ENST00000488919.1_Intron|PLA1A_ENST00000495992.1_Missense_Mutation_p.G83A	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	83					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|phosphatidylserine metabolic process (GO:0006658)	extracellular vesicular exosome (GO:0070062)	phosphatidylcholine 1-acylhydrolase activity (GO:0008970)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GCCACTCTGGGAACCAAACTA	0.423																																						dbGAP											0													127.0	134.0	132.0					3																	119325795		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF035268	CCDS2991.1, CCDS56268.1, CCDS56269.1	3q13.13-q13.2	2002-11-28			ENSG00000144837	ENSG00000144837			17661	protein-coding gene	gene with protein product		607460				10196188	Standard	NM_015900		Approved	ps-PLA1	uc003ecu.3	Q53H76	OTTHUMG00000159425	ENST00000273371.4:c.248G>C	3.37:g.119325795G>C	ENSP00000273371:p.Gly83Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8V2|B4DXA2|O95991|Q86WX6|Q9UPD2	Missense_Mutation	SNP	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase	p.G83A	ENST00000273371.4	37	c.248	CCDS2991.1	3	.	.	.	.	.	.	.	.	.	.	G	15.01	2.706924	0.48412	.	.	ENSG00000144837	ENST00000273371;ENST00000495992;ENST00000494440	D;D;D	0.90620	-2.7;-2.7;-2.7	4.67	2.86	0.33363	Lipase, N-terminal (1);	0.211539	0.49916	D	0.000131	D	0.85410	0.5690	L	0.35487	1.065	0.32661	N	0.518115	P;P	0.48834	0.897;0.916	B;P	0.45913	0.363;0.497	D	0.86276	0.1664	10	0.41790	T	0.15	-7.4212	8.7903	0.34845	0.1879:0.0:0.8121:0.0	.	83;83	Q53H76-3;Q53H76	.;PLA1A_HUMAN	A	83;83;67	ENSP00000273371:G83A;ENSP00000417326:G83A;ENSP00000418793:G67A	ENSP00000273371:G83A	G	+	2	0	PLA1A	120808485	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.123000	0.31308	1.332000	0.45431	0.655000	0.94253	GGA	PLA1A	-	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase	ENSG00000144837		0.423	PLA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA1A	HGNC	protein_coding	OTTHUMT00000355252.2	41	0.00	0	G			119325795	119325795	+1	no_errors	ENST00000273371	ensembl	human	known	69_37n	missense	49	19.67	12	SNP	1.000	C
PLA1A	51365	genome.wustl.edu	37	3	119331884	119331884	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:119331884G>A	ENST00000273371.4	+	5	655	c.583G>A	c.(583-585)Gag>Aag	p.E195K	PLA1A_ENST00000494440.1_Missense_Mutation_p.E179K|PLA1A_ENST00000488919.1_Missense_Mutation_p.E22K|PLA1A_ENST00000495992.1_Missense_Mutation_p.E179K	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	195					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|phosphatidylserine metabolic process (GO:0006658)	extracellular vesicular exosome (GO:0070062)	phosphatidylcholine 1-acylhydrolase activity (GO:0008970)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CGCTGGACCTGAGTACACCAG	0.582																																						dbGAP											0													54.0	42.0	46.0					3																	119331884		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF035268	CCDS2991.1, CCDS56268.1, CCDS56269.1	3q13.13-q13.2	2002-11-28			ENSG00000144837	ENSG00000144837			17661	protein-coding gene	gene with protein product		607460				10196188	Standard	NM_015900		Approved	ps-PLA1	uc003ecu.3	Q53H76	OTTHUMG00000159425	ENST00000273371.4:c.583G>A	3.37:g.119331884G>A	ENSP00000273371:p.Glu195Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8V2|B4DXA2|O95991|Q86WX6|Q9UPD2	Missense_Mutation	SNP	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase	p.E195K	ENST00000273371.4	37	c.583	CCDS2991.1	3	.	.	.	.	.	.	.	.	.	.	G	7.103	0.574528	0.13623	.	.	ENSG00000144837	ENST00000273371;ENST00000488919;ENST00000495992;ENST00000494440;ENST00000475963	D;D;D;D;D	0.90955	-2.76;-2.76;-2.76;-2.76;-2.76	6.06	6.06	0.98353	Lipase, N-terminal (1);	0.134612	0.64402	D	0.000003	T	0.79857	0.4518	N	0.08118	0	0.36261	D	0.854526	B;B	0.22851	0.049;0.076	B;B	0.25884	0.028;0.064	T	0.77199	-0.2675	10	0.26408	T	0.33	-27.3226	9.8469	0.41032	0.1188:0.0:0.8812:0.0	.	179;195	Q53H76-3;Q53H76	.;PLA1A_HUMAN	K	195;22;179;179;61	ENSP00000273371:E195K;ENSP00000420625:E22K;ENSP00000417326:E179K;ENSP00000418793:E179K;ENSP00000417295:E61K	ENSP00000273371:E195K	E	+	1	0	PLA1A	120814574	1.000000	0.71417	0.985000	0.45067	0.342000	0.28953	4.520000	0.60524	2.879000	0.98667	0.650000	0.86243	GAG	PLA1A	-	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH	ENSG00000144837		0.582	PLA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA1A	HGNC	protein_coding	OTTHUMT00000355252.2	41	0.00	0	G			119331884	119331884	+1	no_errors	ENST00000273371	ensembl	human	known	69_37n	missense	44	18.52	10	SNP	0.986	A
PLA2G2C	391013	genome.wustl.edu	37	1	20499354	20499354	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:20499354C>T	ENST00000429261.2	-	3	276	c.216G>A	c.(214-216)ctG>ctA	p.L72L	PLA2G2C_ENST00000247992.5_Silent_p.L73L|PLA2G2C_ENST00000495760.2_Intron			Q5R387	PA2GC_HUMAN	phospholipase A2, group IIC	72					lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)	7		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.14e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.000528)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TGAACTCCTTCAGCTTCTCGT	0.527																																						dbGAP											0													62.0	65.0	64.0					1																	20499354		1958	4148	6106	-	-	-	SO:0001819	synonymous_variant	0					1p36.12	2010-06-04	2003-10-13		ENSG00000187980	ENSG00000187980			9032	protein-coding gene	gene with protein product			"""phospholipase A2, group IIC (possible pseudogene)"""			8838795	Standard	NM_001105572		Approved		uc009vpq.1	Q5R387	OTTHUMG00000002705	ENST00000429261.2:c.216G>A	1.37:g.20499354C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q7M4M6	Silent	SNP	pfam_PLipase_A2_euk,superfamily_PLipase_A2,smart_PLipase_A2,prints_PLipase_A2_euk	p.L73	ENST00000429261.2	37	c.219		1																																																																																			PLA2G2C	-	pfam_PLipase_A2_euk,superfamily_PLipase_A2,smart_PLipase_A2	ENSG00000187980		0.527	PLA2G2C-001	PUTATIVE	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	PLA2G2C	HGNC	protein_coding	OTTHUMT00000007689.3	46	0.00	0	C	NM_001105572		20499354	20499354	-1	no_errors	ENST00000247992	ensembl	human	known	69_37n	silent	29	21.62	8	SNP	1.000	T
PLA2G4A	5321	genome.wustl.edu	37	1	186946853	186946853	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:186946853G>C	ENST00000367466.3	+	16	2045	c.1893G>C	c.(1891-1893)gaG>gaC	p.E631D	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.E571D	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	631	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	CTGATATGGAGAAAGATTGCC	0.423																																						dbGAP											0													130.0	119.0	123.0					1																	186946853		2203	4300	6503	-	-	-	SO:0001583	missense	0			M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.1893G>C	1.37:g.186946853G>C	ENSP00000356436:p.Glu631Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AKG4|Q29R80	Missense_Mutation	SNP	pfam_LysoPLipase_cat_dom,pfam_C2_Ca-dep,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_LysoPLipase_cat_dom,pfscan_C2_membr_targeting,pfscan_LysoPLipase_cat_dom	p.E631D	ENST00000367466.3	37	c.1893	CCDS1372.1	1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.354955	0.41700	.	.	ENSG00000116711	ENST00000367466;ENST00000442353	T;T	0.04083	3.71;3.71	5.98	-0.585	0.11698	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.230755	0.50627	N	0.000104	T	0.01765	0.0056	N	0.12746	0.255	0.41508	D	0.988327	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.003	T	0.47289	-0.9129	10	0.06757	T	0.87	-10.8313	1.6169	0.02705	0.2607:0.2323:0.3873:0.1196	.	571;631	E7EU42;P47712	.;PA24A_HUMAN	D	631;571	ENSP00000356436:E631D;ENSP00000406892:E571D	ENSP00000356436:E631D	E	+	3	2	PLA2G4A	185213476	1.000000	0.71417	0.949000	0.38748	0.932000	0.56968	0.877000	0.28106	-0.100000	0.12241	-0.169000	0.13324	GAG	PLA2G4A	-	pfam_LysoPLipase_cat_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom	ENSG00000116711		0.423	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G4A	HGNC	protein_coding	OTTHUMT00000086236.1	66	0.00	0	G	NM_024420		186946853	186946853	+1	no_errors	ENST00000367466	ensembl	human	known	69_37n	missense	80	14.89	14	SNP	0.996	C
PLA2G4E	123745	genome.wustl.edu	37	15	42293365	42293365	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:42293365C>G	ENST00000399518.3	-	7	1149	c.663G>C	c.(661-663)aaG>aaC	p.K221N	CTD-2382E5.1_ENST00000499478.2_RNA|PLA2G4E_ENST00000413860.2_Missense_Mutation_p.K192N	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	212					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		TTTTCTCCCTCTTCCTCCGCC	0.542																																						dbGAP											0													93.0	102.0	99.0					15																	42293365		1951	4151	6102	-	-	-	SO:0001583	missense	0				CCDS55962.1	15q15.1	2008-09-19			ENSG00000188089	ENSG00000188089	3.1.1.4		24791	protein-coding gene	gene with protein product						15866882	Standard	NM_001206670		Approved	FLJ45651	uc021sjp.1	Q3MJ16	OTTHUMG00000130371	ENST00000399518.3:c.663G>C	15.37:g.42293365C>G	ENSP00000382434:p.Lys221Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZSC0	Missense_Mutation	SNP	pfam_LysoPLipase_cat_dom,pfam_C2_Ca-dep,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_LysoPLipase_cat_dom,pfscan_C2_membr_targeting,pfscan_LysoPLipase_cat_dom	p.K192N	ENST00000399518.3	37	c.576	CCDS55962.1	15	.	.	.	.	.	.	.	.	.	.	c	12.30	1.895442	0.33442	.	.	ENSG00000188089	ENST00000399518;ENST00000413860	T;T	0.01572	4.85;4.76	5.34	2.45	0.29901	.	0.501813	0.16399	U	0.216117	T	0.03178	0.0093	M	0.77103	2.36	0.09310	N	1	B	0.23490	0.086	B	0.28553	0.091	T	0.35919	-0.9769	10	0.36615	T	0.2	0.0375	5.6582	0.17654	0.1572:0.6772:0.0:0.1656	.	192	C9JK77	.	N	221;192	ENSP00000382434:K221N;ENSP00000413897:K192N	ENSP00000382434:K221N	K	-	3	2	PLA2G4E	40080657	0.150000	0.22732	0.037000	0.18230	0.282000	0.26991	0.303000	0.19210	0.249000	0.21456	0.651000	0.88453	AAG	PLA2G4E	-	NULL	ENSG00000188089		0.542	PLA2G4E-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PLA2G4E	HGNC	protein_coding	OTTHUMT00000252738.2	77	0.00	0	C	NM_198442		42293365	42293365	-1	no_errors	ENST00000413860	ensembl	human	known	69_37n	missense	60	28.57	24	SNP	0.249	G
PLA2G4D	283748	genome.wustl.edu	37	15	42373776	42373776	+	Silent	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:42373776G>T	ENST00000290472.3	-	11	952	c.858C>A	c.(856-858)ctC>ctA	p.L286L		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	286	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		CCTCTGCACAGAGATTGAAGC	0.637																																						dbGAP											0													68.0	71.0	70.0					15																	42373776		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AB090876	CCDS32203.1	15q14	2008-09-19				ENSG00000159337	3.1.1.4		30038	protein-coding gene	gene with protein product		612864				14709560	Standard	NM_178034		Approved	cPLA2delta	uc001zox.3	Q86XP0		ENST00000290472.3:c.858C>A	15.37:g.42373776G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N176	Silent	SNP	pfam_LysoPLipase_cat_dom,pfam_C2_Ca-dep,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_LysoPLipase_cat_dom,pfscan_C2_membr_targeting,pfscan_LysoPLipase_cat_dom	p.L286	ENST00000290472.3	37	c.858	CCDS32203.1	15																																																																																			PLA2G4D	-	superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom	ENSG00000159337		0.637	PLA2G4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G4D	HGNC	protein_coding	OTTHUMT00000419317.1	37	0.00	0	G	NM_178034		42373776	42373776	-1	no_errors	ENST00000290472	ensembl	human	known	69_37n	silent	25	30.56	11	SNP	0.001	T
PLAA	9373	genome.wustl.edu	37	9	26905603	26905603	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:26905603G>C	ENST00000397292.3	-	14	2711	c.2294C>G	c.(2293-2295)tCt>tGt	p.S765C		NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	765	PUL. {ECO:0000255|PROSITE- ProRule:PRU00729}.				inflammatory response (GO:0006954)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	phospholipase A2 activator activity (GO:0016005)			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		AACACCTAAAGACTTGGCTAA	0.368																																					Melanoma(175;2670 2735 14091 35526)	dbGAP											0													94.0	93.0	94.0					9																	26905603		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF083395	CCDS35000.1	9p21	2013-01-10			ENSG00000137055	ENSG00000137055		"""WD repeat domain containing"""	9043	protein-coding gene	gene with protein product	"""DOA1 homolog (S. cerevisiae)"""	603873				9931468, 10644453	Standard	NM_001031689		Approved	PLAP, PLA2P, FLJ11281, FLJ12699, DOA1	uc003zqd.3	Q9Y263	OTTHUMG00000019708	ENST00000397292.3:c.2294C>G	9.37:g.26905603G>C	ENSP00000380460:p.Ser765Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53EU5|Q5VY33|Q9NUL8|Q9NVE9|Q9UF53|Q9Y5L1	Missense_Mutation	SNP	pfam_PUL,pfam_WD40_repeat,pfam_PLAA_fam_Ub-bd_PFU,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S765C	ENST00000397292.3	37	c.2294	CCDS35000.1	9	.	.	.	.	.	.	.	.	.	.	G	22.6	4.317010	0.81469	.	.	ENSG00000137055	ENST00000397292	T	0.51574	0.7	6.07	6.07	0.98685	PUL (2);	0.045581	0.85682	D	0.000000	T	0.64897	0.2640	L	0.47716	1.5	0.80722	D	1	D	0.76494	0.999	D	0.68353	0.957	T	0.63184	-0.6694	10	0.66056	D	0.02	-16.4801	20.6593	0.99626	0.0:0.0:1.0:0.0	.	765	Q9Y263	PLAP_HUMAN	C	765	ENSP00000380460:S765C	ENSP00000380460:S765C	S	-	2	0	PLAA	26895603	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.966000	0.93397	2.885000	0.99019	0.655000	0.94253	TCT	PLAA	-	pfam_PUL,superfamily_ARM-type_fold	ENSG00000137055		0.368	PLAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLAA	HGNC	protein_coding	OTTHUMT00000051958.2	64	0.00	0	G	NM_001031689		26905603	26905603	-1	no_errors	ENST00000397292	ensembl	human	known	69_37n	missense	68	18.07	15	SNP	1.000	C
PLAT	5327	genome.wustl.edu	37	8	42038190	42038190	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:42038190C>G	ENST00000220809.4	-	10	1159	c.903G>C	c.(901-903)ctG>ctC	p.L301L	PLAT_ENST00000352041.3_Silent_p.L255L|PLAT_ENST00000524009.1_Silent_p.L212L|PLAT_ENST00000429089.2_Silent_p.L301L|PLAT_ENST00000270189.6_Intron|PLAT_ENST00000519510.1_Silent_p.L238L|PLAT_ENST00000429710.2_Silent_p.L175L	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	301					blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|fibrinolysis (GO:0042730)|negative regulation of proteolysis (GO:0045861)|plasminogen activation (GO:0031639)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of ovulation (GO:0060279)|proteolysis (GO:0006508)|regulation of synaptic plasticity (GO:0048167)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|smooth muscle cell migration (GO:0014909)|synaptic transmission, glutamatergic (GO:0035249)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|synapse (GO:0045202)	serine-type endopeptidase activity (GO:0004252)	p.L301L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Aminocaproic Acid(DB00513)|Ibuprofen(DB01050)|Iloprost(DB01088)|Urokinase(DB00013)	TGTACTGTCTCAGGCCGCAGG	0.617																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											47.0	44.0	45.0					8																	42038190		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS6126.1, CCDS6127.1	8p11.21	2012-10-02			ENSG00000104368	ENSG00000104368			9051	protein-coding gene	gene with protein product		173370					Standard	NM_033011		Approved		uc003xos.2	P00750	OTTHUMG00000164072	ENST00000220809.4:c.903G>C	8.37:g.42038190C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K022|B2R8E8|Q15103|Q503B0|Q6PJA5|Q7Z7N2|Q86YK8|Q9BU99|Q9BZW1	Silent	SNP	pfam_Peptidase_S1_S6,pfam_Kringle,pfam_Fibronectin_type1,pfam_EGF-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1_S6,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.L301	ENST00000220809.4	37	c.903	CCDS6126.1	8																																																																																			PLAT	-	superfamily_Pept_cys/ser_Trypsin-like	ENSG00000104368		0.617	PLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLAT	HGNC	protein_coding	OTTHUMT00000377100.1	40	0.00	0	C	NM_000930		42038190	42038190	-1	no_errors	ENST00000220809	ensembl	human	known	69_37n	silent	11	31.25	5	SNP	0.994	G
PLB1	151056	genome.wustl.edu	37	2	28836897	28836897	+	Splice_Site	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:28836897G>C	ENST00000327757.5	+	44	3173		c.e44-1		PLB1_ENST00000422425.2_Splice_Site|PLB1_ENST00000541605.1_Splice_Site	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1						glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TTTTCTCTTAGAATGAGCCCT	0.433																																						dbGAP											0													123.0	120.0	121.0					2																	28836897		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.3130-1G>C	2.37:g.28836897G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAX2|Q53S03|Q8IUP7|Q96DP9	Splice_Site	SNP	-	e43-1	ENST00000327757.5	37	c.3097-1	CCDS33168.1	2	.	.	.	.	.	.	.	.	.	.	G	12.25	1.880617	0.33255	.	.	ENSG00000163803	ENST00000327757;ENST00000422425;ENST00000404858;ENST00000541605	.	.	.	5.69	4.8	0.61643	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.9093	0.41394	0.0911:0.0:0.9089:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PLB1	28690401	0.738000	0.28186	0.347000	0.25668	0.127000	0.20565	1.799000	0.38824	2.847000	0.97988	0.655000	0.94253	.	PLB1	-	-	ENSG00000163803		0.433	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	PLB1	HGNC	protein_coding	OTTHUMT00000353348.2	105	0.00	0	G		Intron	28836897	28836897	+1	no_errors	ENST00000422425	ensembl	human	known	69_37n	splice_site	74	20.43	19	SNP	0.253	C
PLCB1	23236	genome.wustl.edu	37	20	8703027	8703027	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:8703027G>A	ENST00000338037.6	+	15	1567	c.1540G>A	c.(1540-1542)Gac>Aac	p.D514N	PLCB1_ENST00000378641.3_Missense_Mutation_p.D514N|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Missense_Mutation_p.D514N	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	514					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AAGTGACGACGACGATGATGA	0.413																																						dbGAP											0													214.0	174.0	188.0					20																	8703027		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.1540G>A	20.37:g.8703027G>A	ENSP00000338185:p.Asp514Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.D514N	ENST00000338037.6	37	c.1540	CCDS13102.1	20	.	.	.	.	.	.	.	.	.	.	G	8.162	0.789641	0.16258	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	T;T;T	0.52754	0.65;0.65;0.65	5.96	5.96	0.96718	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);	0.439893	0.25529	N	0.030041	T	0.41166	0.1147	L	0.40543	1.245	0.58432	D	0.999999	B;P	0.51791	0.084;0.948	B;B	0.40285	0.018;0.325	T	0.17471	-1.0368	10	0.16896	T	0.51	.	19.4101	0.94667	0.0:0.0:1.0:0.0	.	514;514	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	N	514;514;514;434;434	ENSP00000367908:D514N;ENSP00000338185:D514N;ENSP00000367904:D514N	ENSP00000338185:D514N	D	+	1	0	PLCB1	8651027	1.000000	0.71417	0.156000	0.22583	0.054000	0.15201	7.939000	0.87685	2.832000	0.97577	0.655000	0.94253	GAC	PLCB1	-	pirsf_PLC-beta,superfamily_PLC-like_Pdiesterase_TIM-brl	ENSG00000182621		0.413	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCB1	HGNC	protein_coding	OTTHUMT00000077938.3	101	0.00	0	G			8703027	8703027	+1	no_errors	ENST00000338037	ensembl	human	known	69_37n	missense	83	20.95	22	SNP	0.998	A
PLCB1	23236	genome.wustl.edu	37	20	8703030	8703030	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:8703030G>A	ENST00000338037.6	+	15	1570	c.1543G>A	c.(1543-1545)Gat>Aat	p.D515N	PLCB1_ENST00000378641.3_Missense_Mutation_p.D515N|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Missense_Mutation_p.D515N	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	515					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TGACGACGACGATGATGATGA	0.418																																						dbGAP											0													216.0	175.0	189.0					20																	8703030		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.1543G>A	20.37:g.8703030G>A	ENSP00000338185:p.Asp515Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.D515N	ENST00000338037.6	37	c.1543	CCDS13102.1	20	.	.	.	.	.	.	.	.	.	.	G	12.51	1.959899	0.34565	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	T;T;T	0.52754	0.65;0.65;0.65	5.96	5.96	0.96718	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);	0.433763	0.25948	N	0.027265	T	0.41305	0.1153	N	0.19112	0.55	0.80722	D	1	B;P	0.51791	0.179;0.948	B;P	0.45406	0.014;0.479	T	0.16335	-1.0406	10	0.33940	T	0.23	.	19.4101	0.94667	0.0:0.0:1.0:0.0	.	515;515	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	N	515;515;515;435;435	ENSP00000367908:D515N;ENSP00000338185:D515N;ENSP00000367904:D515N	ENSP00000338185:D515N	D	+	1	0	PLCB1	8651030	1.000000	0.71417	0.136000	0.22124	0.052000	0.14988	5.991000	0.70602	2.832000	0.97577	0.655000	0.94253	GAT	PLCB1	-	pirsf_PLC-beta,superfamily_PLC-like_Pdiesterase_TIM-brl	ENSG00000182621		0.418	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCB1	HGNC	protein_coding	OTTHUMT00000077938.3	100	0.00	0	G			8703030	8703030	+1	no_errors	ENST00000338037	ensembl	human	known	69_37n	missense	79	23.30	24	SNP	0.997	A
PLCB1	23236	genome.wustl.edu	37	20	8737717	8737717	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:8737717G>A	ENST00000338037.6	+	24	2575	c.2548G>A	c.(2548-2550)Gag>Aag	p.E850K	PLCB1_ENST00000378641.3_Missense_Mutation_p.E850K|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Missense_Mutation_p.E850K	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	850					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AACACCATCAGAGGCTCCAAG	0.463																																						dbGAP											0													63.0	68.0	66.0					20																	8737717		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.2548G>A	20.37:g.8737717G>A	ENSP00000338185:p.Glu850Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.E850K	ENST00000338037.6	37	c.2548	CCDS13102.1	20	.	.	.	.	.	.	.	.	.	.	G	12.10	1.835429	0.32421	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	T;T;T	0.18174	2.24;2.23;2.24	5.47	4.52	0.55395	.	0.285243	0.34828	N	0.003649	T	0.12603	0.0306	L	0.35414	1.06	0.47308	D	0.999381	B;B	0.26147	0.143;0.046	B;B	0.25291	0.025;0.059	T	0.03249	-1.1056	10	0.06625	T	0.88	.	14.7633	0.69621	0.0701:0.0:0.9299:0.0	.	850;850	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	K	850;850;850;770;770	ENSP00000367908:E850K;ENSP00000338185:E850K;ENSP00000367904:E850K	ENSP00000338185:E850K	E	+	1	0	PLCB1	8685717	1.000000	0.71417	0.876000	0.34364	0.669000	0.39330	6.653000	0.74382	1.435000	0.47434	0.650000	0.86243	GAG	PLCB1	-	pirsf_PLC-beta	ENSG00000182621		0.463	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCB1	HGNC	protein_coding	OTTHUMT00000077938.3	52	0.00	0	G			8737717	8737717	+1	no_errors	ENST00000338037	ensembl	human	known	69_37n	missense	45	21.05	12	SNP	1.000	A
PLCB3	5331	genome.wustl.edu	37	11	64026030	64026030	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:64026030G>A	ENST00000540288.1	+	11	1201	c.1098G>A	c.(1096-1098)tgG>tgA	p.W366*	PLCB3_ENST00000279230.6_Nonsense_Mutation_p.W366*|PLCB3_ENST00000325234.5_Nonsense_Mutation_p.W299*	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	366	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						TGGACGTGTGGAAGGGACGGC	0.672																																						dbGAP											0													121.0	104.0	110.0					11																	64026030		2201	4297	6498	-	-	-	SO:0001587	stop_gained	0			Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.1098G>A	11.37:g.64026030G>A	ENSP00000443631:p.Trp366*	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKZ6|G5E960|Q8N1A4	Nonsense_Mutation	SNP	pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,pfam_PLC-beta_CS,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.W366*	ENST00000540288.1	37	c.1098	CCDS8064.1	11	.	.	.	.	.	.	.	.	.	.	G	28.5	4.926043	0.92319	.	.	ENSG00000149782	ENST00000279230;ENST00000540288;ENST00000325234	.	.	.	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.7888	0.85582	0.0:0.0:1.0:0.0	.	.	.	.	X	366;366;299	.	ENSP00000279230:W366X	W	+	3	0	PLCB3	63782606	1.000000	0.71417	1.000000	0.80357	0.342000	0.28953	9.718000	0.98758	2.268000	0.75426	0.484000	0.47621	TGG	PLCB3	-	pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom,prints_Pinositol_PLipase_C	ENSG00000149782		0.672	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	PLCB3	HGNC	protein_coding	OTTHUMT00000396405.1	47	0.00	0	G			64026030	64026030	+1	no_errors	ENST00000279230	ensembl	human	known	69_37n	nonsense	43	14.00	7	SNP	1.000	A
PLCB4	5332	genome.wustl.edu	37	20	9352991	9352991	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:9352991C>G	ENST00000378493.1	+	8	642	c.627C>G	c.(625-627)ttC>ttG	p.F209L	PLCB4_ENST00000414679.2_Missense_Mutation_p.F209L|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378501.2_Missense_Mutation_p.F209L|PLCB4_ENST00000278655.4_Missense_Mutation_p.F209L|PLCB4_ENST00000334005.3_Missense_Mutation_p.F209L|PLCB4_ENST00000378473.3_Missense_Mutation_p.F209L			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	209					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						ATGAAAAGTTCTATGAACTGA	0.338																																						dbGAP											0													79.0	80.0	79.0					20																	9352991		2202	4300	6502	-	-	-	SO:0001583	missense	0				CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.627C>G	20.37:g.9352991C>G	ENSP00000367754:p.Phe209Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_PLC-beta_CS,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.F209L	ENST00000378493.1	37	c.627	CCDS13105.1	20	.	.	.	.	.	.	.	.	.	.	C	16.16	3.043127	0.55003	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41;-0.41	5.91	2.59	0.31030	.	0.000000	0.85682	D	0.000000	T	0.81498	0.4835	M	0.90650	3.135	0.52099	D	0.999941	D;P;P;D	0.71674	0.998;0.664;0.924;0.998	D;B;P;D	0.79108	0.989;0.223;0.878;0.992	T	0.81243	-0.1021	10	0.87932	D	0	.	7.3754	0.26825	0.0:0.4717:0.0:0.5283	.	209;56;209;209	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	L	209;209;209;209;209;45	ENSP00000334105:F209L;ENSP00000367734:F209L;ENSP00000278655:F209L;ENSP00000367754:F209L;ENSP00000367762:F209L;ENSP00000390616:F45L	ENSP00000278655:F209L	F	+	3	2	PLCB4	9300991	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	1.705000	0.37867	0.763000	0.33175	0.655000	0.94253	TTC	PLCB4	-	pirsf_PLC-beta	ENSG00000101333		0.338	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLCB4	HGNC	protein_coding	OTTHUMT00000077948.2	74	0.00	0	C			9352991	9352991	+1	no_errors	ENST00000334005	ensembl	human	known	69_37n	missense	93	20.51	24	SNP	1.000	G
PLCB4	5332	genome.wustl.edu	37	20	9400470	9400470	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:9400470G>C	ENST00000378493.1	+	22	2047	c.2032G>C	c.(2032-2034)Gat>Cat	p.D678H	PLCB4_ENST00000414679.2_Missense_Mutation_p.D690H|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378501.2_Missense_Mutation_p.D678H|PLCB4_ENST00000278655.4_Missense_Mutation_p.D678H|PLCB4_ENST00000334005.3_Missense_Mutation_p.D678H|PLCB4_ENST00000378473.3_Missense_Mutation_p.D690H			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	678	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TCTCAAACCAGATTTCATGAG	0.443																																						dbGAP											0													163.0	157.0	159.0					20																	9400470		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.2032G>C	20.37:g.9400470G>C	ENSP00000367754:p.Asp678His	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_PLC-beta_CS,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.D678H	ENST00000378493.1	37	c.2032	CCDS13105.1	20	.	.	.	.	.	.	.	.	.	.	G	26.2	4.715651	0.89112	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5;0.5	5.36	5.36	0.76844	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.000000	0.85682	D	0.000000	T	0.77157	0.4089	M	0.85945	2.785	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.87578	0.996;0.972;0.998;0.996	T	0.80551	-0.1332	10	0.87932	D	0	.	19.4501	0.94863	0.0:0.0:1.0:0.0	.	690;525;678;678	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	H	678;690;678;678;678;526	ENSP00000334105:D678H;ENSP00000367734:D690H;ENSP00000278655:D678H;ENSP00000367754:D678H;ENSP00000367762:D678H;ENSP00000390616:D526H	ENSP00000278655:D678H	D	+	1	0	PLCB4	9348470	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.781000	0.99029	2.678000	0.91216	0.563000	0.77884	GAT	PLCB4	-	pirsf_PLC-beta,pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,pfscan_PLipase_C_Pinositol-sp_Y	ENSG00000101333		0.443	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLCB4	HGNC	protein_coding	OTTHUMT00000077948.2	96	0.00	0	G			9400470	9400470	+1	no_errors	ENST00000334005	ensembl	human	known	69_37n	missense	145	14.20	24	SNP	1.000	C
PLCD1	5333	genome.wustl.edu	37	3	38049301	38049301	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:38049301G>C	ENST00000334661.4	-	15	2456	c.2234C>G	c.(2233-2235)tCa>tGa	p.S745*	PLCD1_ENST00000463876.1_Nonsense_Mutation_p.S766*	NM_006225.3	NP_006216.2	P51178	PLCD1_HUMAN	phospholipase C, delta 1	745					angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTPase activating protein binding (GO:0032794)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol phosphate binding (GO:1901981)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylserine binding (GO:0001786)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		GAGGGTGGCTGATGGATGCTG	0.602																																						dbGAP											0													114.0	95.0	101.0					3																	38049301		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS2671.1, CCDS46793.1	3p22-p21.3	2013-01-10			ENSG00000187091	ENSG00000187091	3.1.4.11	"""EF-hand domain containing"""	9060	protein-coding gene	gene with protein product		602142				9345909	Standard	NM_001130964		Approved		uc003chm.3	P51178	OTTHUMG00000130813	ENST00000334661.4:c.2234C>G	3.37:g.38049301G>C	ENSP00000335600:p.Ser745*	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KR14|Q86VN8	Nonsense_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.S766*	ENST00000334661.4	37	c.2297	CCDS2671.1	3	.	.	.	.	.	.	.	.	.	.	G	41	8.635774	0.98895	.	.	ENSG00000187091	ENST00000463876;ENST00000334661	.	.	.	5.01	5.01	0.66863	.	0.321368	0.34725	N	0.003730	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	.	14.7631	0.69619	0.0:0.1454:0.8546:0.0	.	.	.	.	X	766;745	.	ENSP00000335600:S745X	S	-	2	0	PLCD1	38024305	1.000000	0.71417	1.000000	0.80357	0.606000	0.37113	7.820000	0.86633	2.498000	0.84270	0.655000	0.94253	TCA	PLCD1	-	superfamily_C2_Ca/lipid-bd_dom_CaLB	ENSG00000187091		0.602	PLCD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLCD1	HGNC	protein_coding	OTTHUMT00000253359.2	50	0.00	0	G			38049301	38049301	-1	no_errors	ENST00000463876	ensembl	human	known	69_37n	nonsense	81	17.35	17	SNP	1.000	C
PLCD1	5333	genome.wustl.edu	37	3	38050068	38050068	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:38050068C>T	ENST00000334661.4	-	12	2005	c.1783G>A	c.(1783-1785)Gac>Aac	p.D595N	PLCD1_ENST00000479619.1_5'Flank|PLCD1_ENST00000463876.1_Missense_Mutation_p.D616N	NM_006225.3	NP_006216.2	P51178	PLCD1_HUMAN	phospholipase C, delta 1	595	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTPase activating protein binding (GO:0032794)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol phosphate binding (GO:1901981)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylserine binding (GO:0001786)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		GCCCCGTTGTCCTGGAAGCGG	0.667																																						dbGAP											0													58.0	62.0	61.0					3																	38050068		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2671.1, CCDS46793.1	3p22-p21.3	2013-01-10			ENSG00000187091	ENSG00000187091	3.1.4.11	"""EF-hand domain containing"""	9060	protein-coding gene	gene with protein product		602142				9345909	Standard	NM_001130964		Approved		uc003chm.3	P51178	OTTHUMG00000130813	ENST00000334661.4:c.1783G>A	3.37:g.38050068C>T	ENSP00000335600:p.Asp595Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KR14|Q86VN8	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.D616N	ENST00000334661.4	37	c.1846	CCDS2671.1	3	.	.	.	.	.	.	.	.	.	.	C	28.3	4.904337	0.92035	.	.	ENSG00000187091	ENST00000463876;ENST00000334661	T;T	0.67171	-0.25;-0.25	4.71	4.71	0.59529	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.147079	0.64402	D	0.000012	T	0.77532	0.4144	M	0.66939	2.045	0.46798	D	0.999208	D;P	0.60160	0.987;0.941	P;P	0.60345	0.873;0.857	T	0.76162	-0.3060	10	0.32370	T	0.25	.	17.6247	0.88091	0.0:1.0:0.0:0.0	.	595;616	P51178;B3KR14	PLCD1_HUMAN;.	N	616;595	ENSP00000430344:D616N;ENSP00000335600:D595N	ENSP00000335600:D595N	D	-	1	0	PLCD1	38025072	0.954000	0.32549	1.000000	0.80357	0.995000	0.86356	0.997000	0.29731	2.358000	0.79984	0.561000	0.74099	GAC	PLCD1	-	pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,pfscan_PLipase_C_Pinositol-sp_Y	ENSG00000187091		0.667	PLCD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLCD1	HGNC	protein_coding	OTTHUMT00000253359.2	34	0.00	0	C			38050068	38050068	-1	no_errors	ENST00000463876	ensembl	human	known	69_37n	missense	44	10.20	5	SNP	1.000	T
PLCG1	5335	genome.wustl.edu	37	20	39798809	39798809	+	Missense_Mutation	SNP	C	C	T	rs200504048		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:39798809C>T	ENST00000373271.1	+	24	3113	c.2708C>T	c.(2707-2709)tCg>tTg	p.S903L	PLCG1_ENST00000373272.2_Missense_Mutation_p.S903L|PLCG1_ENST00000244007.3_Missense_Mutation_p.S903L	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	903	PH 2; second part. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|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)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				AGCATGGCGTCGGTGGCCCAC	0.592													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19701	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													107.0	103.0	104.0					20																	39798809		2203	4300	6503	-	-	-	SO:0001583	missense	0			M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"", ""SH2 domain containing"""	9065	protein-coding gene	gene with protein product		172420	"""phospholipase C, gamma 1 (formerly subtype 148)"""	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.2708C>T	20.37:g.39798809C>T	ENSP00000362368:p.Ser903Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLY7|B9EGH4|E1P5W4|Q2V575	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,pfam_SH3_domain,pfam_SH3_2,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pirsf_PLC-gamma,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2	p.S903L	ENST00000373271.1	37	c.2708	CCDS13314.1	20	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	15.98	2.993099	0.54041	.	.	ENSG00000124181	ENST00000244007;ENST00000373271;ENST00000373272	T;T;T	0.50813	0.73;0.73;0.73	5.29	4.34	0.51931	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.676716	0.14620	N	0.308483	T	0.37046	0.0989	L	0.36672	1.1	0.21105	N	0.999789	B;B;B;B	0.32800	0.385;0.003;0.327;0.266	B;B;B;B	0.23716	0.045;0.001;0.048;0.02	T	0.17868	-1.0355	10	0.45353	T	0.12	.	13.7561	0.62937	0.0:0.9255:0.0:0.0745	.	903;479;903;903	P19174-2;B4DMA3;P19174;A2A284	.;.;PLCG1_HUMAN;.	L	903	ENSP00000244007:S903L;ENSP00000362368:S903L;ENSP00000362369:S903L	ENSP00000244007:S903L	S	+	2	0	PLCG1	39232223	0.853000	0.29707	0.020000	0.16555	0.972000	0.66771	2.831000	0.48144	1.232000	0.43678	0.563000	0.77884	TCG	PLCG1	-	superfamily_PLC-like_Pdiesterase_TIM-brl,smart_Pleckstrin_homology,pirsf_PLC-gamma,pfscan_Pleckstrin_homology	ENSG00000124181		0.592	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLCG1	HGNC	protein_coding	OTTHUMT00000080514.3	69	0.00	0	C	NM_182811		39798809	39798809	+1	no_errors	ENST00000244007	ensembl	human	known	69_37n	missense	58	18.06	13	SNP	0.156	T
PLCG1	5335	genome.wustl.edu	37	20	39800883	39800883	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:39800883C>G	ENST00000373271.1	+	25	3264	c.2859C>G	c.(2857-2859)ctC>ctG	p.L953L	PLCG1_ENST00000373272.2_Silent_p.L953L|PLCG1_ENST00000244007.3_Silent_p.L953L	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	953	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|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)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				CCCTGGAGCTCTCTGAACTTG	0.602																																						dbGAP											0													149.0	134.0	139.0					20																	39800883		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"", ""SH2 domain containing"""	9065	protein-coding gene	gene with protein product		172420	"""phospholipase C, gamma 1 (formerly subtype 148)"""	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.2859C>G	20.37:g.39800883C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLY7|B9EGH4|E1P5W4|Q2V575	Silent	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,pfam_SH3_domain,pfam_SH3_2,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pirsf_PLC-gamma,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2	p.L953	ENST00000373271.1	37	c.2859	CCDS13314.1	20																																																																																			PLCG1	-	pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,pirsf_PLC-gamma,pfscan_PLipase_C_Pinositol-sp_Y	ENSG00000124181		0.602	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLCG1	HGNC	protein_coding	OTTHUMT00000080514.3	54	0.00	0	C	NM_182811		39800883	39800883	+1	no_errors	ENST00000244007	ensembl	human	known	69_37n	silent	81	11.96	11	SNP	0.900	G
PLCL1	5334	genome.wustl.edu	37	2	198950526	198950526	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:198950526C>G	ENST00000428675.1	+	2	2683	c.2285C>G	c.(2284-2286)tCg>tGg	p.S762W	PLCL1_ENST00000437704.2_Missense_Mutation_p.S664W	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	762	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GCGGATTGTTCGGAACAAAGA	0.423																																						dbGAP											0													84.0	80.0	81.0					2																	198950526		2203	4300	6503	-	-	-	SO:0001583	missense	0			D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.2285C>G	2.37:g.198950526C>G	ENSP00000402861:p.Ser762Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3MJ90|Q53SD3|Q7Z3S3	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_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.S762W	ENST00000428675.1	37	c.2285	CCDS2326.2	2	.	.	.	.	.	.	.	.	.	.	C	13.36	2.214012	0.39102	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.70282	-0.47;-0.47	5.36	4.48	0.54585	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.641681	0.14625	N	0.308147	T	0.80592	0.4652	L	0.60904	1.88	0.42771	D	0.993832	D;D	0.65815	0.995;0.991	P;P	0.62813	0.907;0.856	T	0.79468	-0.1791	9	.	.	.	.	16.4683	0.84092	0.0:0.8693:0.1307:0.0	.	762;688	Q15111;B4DYZ4	PLCL1_HUMAN;.	W	762;664	ENSP00000402861:S762W;ENSP00000414138:S664W	.	S	+	2	0	PLCL1	198658771	0.995000	0.38212	0.096000	0.21009	0.968000	0.65278	3.868000	0.56055	1.474000	0.48178	0.561000	0.74099	TCG	PLCL1	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	ENSG00000115896		0.423	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCL1	HGNC	protein_coding	OTTHUMT00000340210.1	62	0.00	0	C	NM_006226		198950526	198950526	+1	no_errors	ENST00000428675	ensembl	human	known	69_37n	missense	78	17.02	16	SNP	0.717	G
PLCL2	23228	genome.wustl.edu	37	3	17051210	17051210	+	5'UTR	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:17051210C>T	ENST00000418129.2	+	0	459				PLCL2_ENST00000396755.2_5'UTR|PLCL2_ENST00000432376.1_5'UTR|PLCL2_ENST00000460467.1_3'UTR	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2						B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						CAGTCTCATTCAGCAGCATGC	0.383																																						dbGAP											0													58.0	59.0	59.0					3																	17051210		2203	4300	6503	-	-	-	SO:0001623	5_prime_UTR_variant	0			AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"""phospholipase C, epsilon 2"""	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.-7C>T	3.37:g.17051210C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5V4|Q8N498|Q9H8L0|Q9UFP9	RNA	SNP	-	NULL	ENST00000418129.2	37	NULL	CCDS33713.1	3																																																																																			PLCL2	-	-	ENSG00000154822		0.383	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCL2	HGNC	protein_coding	OTTHUMT00000340250.3	30	0.00	0	C			17051210	17051210	+1	no_errors	ENST00000460467	ensembl	human	known	69_37n	rna	32	15.79	6	SNP	1.000	T
PLD2	5338	genome.wustl.edu	37	17	4711584	4711584	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:4711584C>T	ENST00000263088.6	+	4	387	c.256C>T	c.(256-258)Ctg>Ttg	p.L86L	PLD2_ENST00000572940.1_Silent_p.L86L|RP11-81A22.5_ENST00000571067.1_lincRNA	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	86	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor internalization (GO:0002031)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	AACCTGCACTCTGTATTCTGT	0.562																																						dbGAP											0													176.0	163.0	168.0					17																	4711584		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF035483	CCDS11057.1, CCDS58507.1	17p13.3	2008-04-14			ENSG00000129219	ENSG00000129219	3.1.4.4		9068	protein-coding gene	gene with protein product	"""choline phosphatase 2"""	602384				9858823, 9582313	Standard	NM_002663		Approved		uc002fzc.3	O14939	OTTHUMG00000090779	ENST00000263088.6:c.256C>T	17.37:g.4711584C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	I3L2C9|O43540|O43579|O43580|Q6PGR0|Q96BY3	Silent	SNP	pfam_Phox,pfam_PLipase_D/transphosphatidylase,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase	p.L86	ENST00000263088.6	37	c.256	CCDS11057.1	17																																																																																			PLD2	-	pfam_Phox,superfamily_Phox,smart_Phox,pirsf_PLipase_D_euk,pfscan_Phox	ENSG00000129219		0.562	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLD2	HGNC	protein_coding	OTTHUMT00000207561.3	59	0.00	0	C	NM_002663		4711584	4711584	+1	no_errors	ENST00000263088	ensembl	human	known	69_37n	silent	45	18.18	10	SNP	1.000	T
PLD5	200150	genome.wustl.edu	37	1	242451670	242451670	+	Silent	SNP	T	T	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:242451670T>G	ENST00000536534.2	-	3	730	c.489A>C	c.(487-489)gcA>gcC	p.A163A	PLD5_ENST00000427495.1_Silent_p.A101A|PLD5_ENST00000442594.2_Silent_p.A71A			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	163						integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			TTACCTGACATGCTGATGGAT	0.423																																						dbGAP											0													183.0	157.0	166.0					1																	242451670		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.489A>C	1.37:g.242451670T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A1KXV0|B7Z324|Q494U9|Q8NB22	Silent	SNP	smart_PLipase_D/transphosphatidylase	p.A163	ENST00000536534.2	37	c.489	CCDS1621.2	1																																																																																			PLD5	-	NULL	ENSG00000180287		0.423	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PLD5	HGNC	protein_coding	OTTHUMT00000397213.2	119	0.00	0	T	NM_152666		242451670	242451670	-1	no_errors	ENST00000536534	ensembl	human	known	69_37n	silent	143	14.88	25	SNP	1.000	G
PLEC	5339	genome.wustl.edu	37	8	145005745	145005745	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:145005745G>C	ENST00000322810.4	-	19	2841	c.2672C>G	c.(2671-2673)tCc>tGc	p.S891C	PLEC_ENST00000436759.2_Missense_Mutation_p.S781C|PLEC_ENST00000357649.2_Missense_Mutation_p.S758C|PLEC_ENST00000354589.3_Missense_Mutation_p.S754C|PLEC_ENST00000527096.1_Missense_Mutation_p.S777C|PLEC_ENST00000356346.3_Missense_Mutation_p.S740C|PLEC_ENST00000398774.2_Missense_Mutation_p.S722C|PLEC_ENST00000345136.3_Missense_Mutation_p.S754C|PLEC_ENST00000354958.2_Missense_Mutation_p.S732C	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	891	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						GACGGTGGCGGAGCGATCACA	0.667																																						dbGAP											0													29.0	39.0	36.0					8																	145005745		2103	4229	6332	-	-	-	SO:0001583	missense	0			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.2672C>G	8.37:g.145005745G>C	ENSP00000323856:p.Ser891Cys	Somatic		WXS	Illumina GAIIx	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.S891C	ENST00000322810.4	37	c.2672	CCDS43772.1	8	.	.	.	.	.	.	.	.	.	.	G	10.85	1.466455	0.26335	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	D;D;D;D;D;D;D;D;D	0.93859	-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3	3.79	3.79	0.43588	.	0.092952	0.43747	U	0.000537	D	0.92153	0.7512	M	0.73962	2.25	0.50467	D	0.99987	P;P;P;B;P;P;P;P	0.37122	0.583;0.583;0.583;0.447;0.583;0.583;0.583;0.583	B;B;B;B;B;B;B;B	0.34824	0.19;0.19;0.19;0.093;0.19;0.19;0.19;0.19	D	0.93574	0.6906	10	0.87932	D	0	.	14.9205	0.70835	0.0:0.0:1.0:0.0	.	781;740;732;891;722;754;758;754	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	C	754;758;754;722;891;732;740;781;777	ENSP00000344848:S754C;ENSP00000350277:S758C;ENSP00000346602:S754C;ENSP00000381756:S722C;ENSP00000323856:S891C;ENSP00000347044:S732C;ENSP00000348702:S740C;ENSP00000388180:S781C;ENSP00000434583:S777C	ENSP00000323856:S891C	S	-	2	0	PLEC	145077733	0.616000	0.27035	0.790000	0.31976	0.118000	0.20060	3.415000	0.52700	2.117000	0.64856	0.551000	0.68910	TCC	PLEC	-	smart_Spectrin/alpha-actinin	ENSG00000178209		0.667	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	35	0.00	0	G	NM_000445		145005745	145005745	-1	no_errors	ENST00000322810	ensembl	human	known	69_37n	missense	20	69.23	45	SNP	1.000	C
PLEKHA5	54477	genome.wustl.edu	37	12	19501417	19501417	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:19501417G>C	ENST00000299275.6	+	19	2491	c.2485G>C	c.(2485-2487)Gaa>Caa	p.E829Q	PLEKHA5_ENST00000424268.1_Missense_Mutation_p.E818Q|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.E811Q|PLEKHA5_ENST00000538714.1_Missense_Mutation_p.E887Q|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.E995Q|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.E892Q|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.E587Q|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.E887Q|PLEKHA5_ENST00000359180.3_Intron	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	829					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					AGAAAAATCAGAACCTGTTTC	0.348																																					Pancreas(196;329 2193 11246 14234 19524)	dbGAP											0													90.0	91.0	90.0					12																	19501417		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"""Pleckstrin homology (PH) domain containing"""	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.2485G>C	12.37:g.19501417G>C	ENSP00000299275:p.Glu829Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Missense_Mutation	SNP	pfam_Pleckstrin_homology,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_Rsp5_WWP	p.E892Q	ENST00000299275.6	37	c.2674	CCDS8682.1	12	.	.	.	.	.	.	.	.	.	.	G	25.8	4.673238	0.88445	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000542828;ENST00000429027;ENST00000299275;ENST00000539256;ENST00000538714;ENST00000424268;ENST00000543806;ENST00000536974	T;T;T;T;T;T;T;T;T	0.09445	2.98;2.98;2.98;2.98;2.98;2.98;2.98;2.98;2.98	4.82	4.82	0.62117	.	0.861314	0.09822	N	0.751369	T	0.32734	0.0839	L	0.58669	1.825	0.53005	D	0.999965	D;D;D;D;D;D;D	0.76494	0.991;0.999;0.972;0.997;0.999;0.987;0.997	D;D;P;D;D;P;D	0.77004	0.974;0.963;0.726;0.986;0.989;0.827;0.917	T	0.01273	-1.1399	10	0.33940	T	0.23	-19.9809	18.2762	0.90084	0.0:0.0:1.0:0.0	.	892;811;818;990;995;829;887	Q9HAU0-4;F5H0I0;E7EME8;B4DHK5;E9PHQ3;Q9HAU0;Q9HAU0-2	.;.;.;.;.;PKHA5_HUMAN;.	Q	892;887;991;995;829;587;887;818;811;784	ENSP00000325155:E892Q;ENSP00000347560:E887Q;ENSP00000404296:E995Q;ENSP00000299275:E829Q;ENSP00000440611:E587Q;ENSP00000439673:E887Q;ENSP00000400411:E818Q;ENSP00000439837:E811Q;ENSP00000440371:E784Q	ENSP00000299275:E829Q	E	+	1	0	PLEKHA5	19392684	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.173000	0.89680	2.347000	0.79759	0.563000	0.77884	GAA	PLEKHA5	-	NULL	ENSG00000052126		0.348	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHA5	HGNC	protein_coding	OTTHUMT00000397013.1	74	0.00	0	G	NM_019012		19501417	19501417	+1	no_errors	ENST00000317589	ensembl	human	known	69_37n	missense	36	37.93	22	SNP	1.000	C
PLEKHA5	54477	genome.wustl.edu	37	12	19512388	19512388	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:19512388G>C	ENST00000299275.6	+	22	2899	c.2893G>C	c.(2893-2895)Gaa>Caa	p.E965Q	PLEKHA5_ENST00000424268.1_Missense_Mutation_p.E954Q|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.E947Q|PLEKHA5_ENST00000538714.1_Missense_Mutation_p.E1023Q|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.E1131Q|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.E1028Q|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.E723Q|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.E1023Q|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.E909Q	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	965					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					TGCCATTAGAGAAAATGATGT	0.393																																					Pancreas(196;329 2193 11246 14234 19524)	dbGAP											0													121.0	113.0	116.0					12																	19512388		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"""Pleckstrin homology (PH) domain containing"""	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.2893G>C	12.37:g.19512388G>C	ENSP00000299275:p.Glu965Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Missense_Mutation	SNP	pfam_Pleckstrin_homology,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_Rsp5_WWP	p.E1028Q	ENST00000299275.6	37	c.3082	CCDS8682.1	12	.	.	.	.	.	.	.	.	.	.	G	22.3	4.273671	0.80580	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000359180;ENST00000542828;ENST00000429027;ENST00000299275;ENST00000539256;ENST00000538714;ENST00000424268;ENST00000543806;ENST00000536974;ENST00000538972	T;T;T;T;T;T;T;T;T;T;T	0.10005	2.92;2.92;2.92;2.92;2.92;2.92;2.92;2.92;2.92;2.92;2.92	4.75	4.75	0.60458	.	0.488569	0.22550	N	0.058609	T	0.14356	0.0347	L	0.29908	0.895	0.32653	N	0.519108	P;B;B;B;P;B;B;B	0.51791	0.882;0.018;0.011;0.085;0.948;0.185;0.026;0.045	B;B;B;B;P;B;B;B	0.49999	0.367;0.029;0.013;0.012;0.628;0.048;0.021;0.046	T	0.02345	-1.1173	10	0.52906	T	0.07	-13.8725	15.1768	0.72920	0.0:0.0:1.0:0.0	.	1028;947;954;1126;909;1131;965;1023	Q9HAU0-4;F5H0I0;E7EME8;B4DHK5;Q9HAU0-5;E9PHQ3;Q9HAU0;Q9HAU0-2	.;.;.;.;.;.;PKHA5_HUMAN;.	Q	1028;1023;909;1127;1131;965;723;1023;954;947;920;246	ENSP00000325155:E1028Q;ENSP00000347560:E1023Q;ENSP00000352104:E909Q;ENSP00000404296:E1131Q;ENSP00000299275:E965Q;ENSP00000440611:E723Q;ENSP00000439673:E1023Q;ENSP00000400411:E954Q;ENSP00000439837:E947Q;ENSP00000440371:E920Q;ENSP00000443553:E246Q	ENSP00000299275:E965Q	E	+	1	0	PLEKHA5	19403655	1.000000	0.71417	0.700000	0.30305	0.945000	0.59286	5.737000	0.68606	2.627000	0.88993	0.460000	0.39030	GAA	PLEKHA5	-	NULL	ENSG00000052126		0.393	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHA5	HGNC	protein_coding	OTTHUMT00000397013.1	108	0.00	0	G	NM_019012		19512388	19512388	+1	no_errors	ENST00000317589	ensembl	human	known	69_37n	missense	44	39.73	29	SNP	0.887	C
PLEKHA6	22874	genome.wustl.edu	37	1	204218354	204218354	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:204218354C>T	ENST00000272203.3	-	11	1948	c.1632G>A	c.(1630-1632)gtG>gtA	p.V544V	PLEKHA6_ENST00000414478.1_Silent_p.V564V	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	544										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			CCTGCTCCCTCACCACCTTGT	0.567																																						dbGAP											0													100.0	99.0	99.0					1																	204218354		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"""Pleckstrin homology (PH) domain containing"""	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.1632G>A	1.37:g.204218354C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A7MD51|Q5VTI6	Silent	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.V544	ENST00000272203.3	37	c.1632	CCDS1444.1	1																																																																																			PLEKHA6	-	NULL	ENSG00000143850		0.567	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHA6	HGNC	protein_coding	OTTHUMT00000087889.3	107	0.00	0	C	NM_014935		204218354	204218354	-1	no_errors	ENST00000272203	ensembl	human	known	69_37n	silent	181	19.56	44	SNP	1.000	T
PLEKHA6	22874	genome.wustl.edu	37	1	204228864	204228864	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:204228864C>A	ENST00000272203.3	-	8	845	c.529G>T	c.(529-531)Gag>Tag	p.E177*	PLEKHA6_ENST00000485632.1_5'Flank|PLEKHA6_ENST00000414478.1_Nonsense_Mutation_p.E197*	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	177	Pro-rich.									breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			TCTGGCTTCTCATGGCTGCAG	0.617																																						dbGAP											0													45.0	42.0	43.0					1																	204228864		2202	4292	6494	-	-	-	SO:0001587	stop_gained	0			AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"""Pleckstrin homology (PH) domain containing"""	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.529G>T	1.37:g.204228864C>A	ENSP00000272203:p.Glu177*	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MD51|Q5VTI6	Nonsense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E177*	ENST00000272203.3	37	c.529	CCDS1444.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.593882	0.97692	.	.	ENSG00000143850	ENST00000272203;ENST00000414478	.	.	.	5.68	5.68	0.88126	.	0.118535	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-32.8365	19.3877	0.94564	0.0:1.0:0.0:0.0	.	.	.	.	X	177;197	.	ENSP00000272203:E177X	E	-	1	0	PLEKHA6	202495487	1.000000	0.71417	0.983000	0.44433	0.594000	0.36715	5.189000	0.65098	2.670000	0.90874	0.655000	0.94253	GAG	PLEKHA6	-	NULL	ENSG00000143850		0.617	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHA6	HGNC	protein_coding	OTTHUMT00000087889.3	17	0.00	0	C	NM_014935		204228864	204228864	-1	no_errors	ENST00000272203	ensembl	human	known	69_37n	nonsense	34	19.05	8	SNP	0.993	A
PLEKHA8	84725	genome.wustl.edu	37	7	30087519	30087519	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:30087519C>T	ENST00000449726.1	+	4	735	c.385C>T	c.(385-387)Cag>Tag	p.Q129*	PLEKHA8_ENST00000396257.2_Nonsense_Mutation_p.Q129*|PLEKHA8_ENST00000396259.1_Nonsense_Mutation_p.Q129*|PLEKHA8_ENST00000483799.1_3'UTR|PLEKHA8_ENST00000258679.7_Nonsense_Mutation_p.Q129*	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	129					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						CCTCCTTGTTCAGCAAGTAGA	0.294																																						dbGAP											0													85.0	78.0	81.0					7																	30087519		2203	4299	6502	-	-	-	SO:0001587	stop_gained	0			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.385C>T	7.37:g.30087519C>T	ENSP00000397947:p.Gln129*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DH00|Q7Z5V8|Q9BU78|Q9H274|Q9H8Z7	Nonsense_Mutation	SNP	pfam_Glycolipid_transfer_prot_dom,pfam_Pleckstrin_homology,superfamily_Glycolipid_transfer_prot_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.Q129*	ENST00000449726.1	37	c.385	CCDS56473.1	7	.	.	.	.	.	.	.	.	.	.	C	40	8.131656	0.98670	.	.	ENSG00000106086	ENST00000258679;ENST00000449726;ENST00000396257;ENST00000396259;ENST00000440706	.	.	.	5.49	5.49	0.81192	.	0.062472	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	-31.3019	17.9408	0.89026	0.0:1.0:0.0:0.0	.	.	.	.	X	129;129;129;129;155	.	ENSP00000258679:Q129X	Q	+	1	0	PLEKHA8	30054044	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.726000	0.61986	2.586000	0.87340	0.561000	0.74099	CAG	PLEKHA8	-	NULL	ENSG00000106086		0.294	PLEKHA8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHA8	HGNC	protein_coding		73	0.00	0	C	NM_032639		30087519	30087519	+1	no_errors	ENST00000449726	ensembl	human	known	69_37n	nonsense	44	40.54	30	SNP	1.000	T
PLEKHB2	55041	genome.wustl.edu	37	2	131883450	131883450	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:131883450C>G	ENST00000403716.1	+	3	722	c.162C>G	c.(160-162)atC>atG	p.I54M	PLEKHB2_ENST00000409279.1_Missense_Mutation_p.I54M|PLEKHB2_ENST00000538982.1_Missense_Mutation_p.I6M|PLEKHB2_ENST00000404460.1_Missense_Mutation_p.I54M|PLEKHB2_ENST00000409612.1_Missense_Mutation_p.I54M|PLEKHB2_ENST00000303908.3_Missense_Mutation_p.I54M|PLEKHB2_ENST00000234115.6_Missense_Mutation_p.I54M|PLEKHB2_ENST00000409158.1_Missense_Mutation_p.I54M|PLEKHB2_ENST00000438882.2_Missense_Mutation_p.I54M|PLEKHB2_ENST00000439822.2_Missense_Mutation_p.I54M	NM_001100623.1|NM_001267062.1|NM_001267063.1|NM_001267064.1|NM_001267065.1|NM_001267066.1|NM_017958.2	NP_001094093.1|NP_001253991.1|NP_001253992.1|NP_001253993.1|NP_001253994.1|NP_001253995.1|NP_060428.2	Q96CS7	PKHB2_HUMAN	pleckstrin homology domain containing, family B (evectins) member 2	54	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					endosome (GO:0005768)|membrane (GO:0016020)				large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.0828)		TGGACTGCATCAACATCCGCA	0.522																																						dbGAP											0													124.0	110.0	115.0					2																	131883450		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2166.1, CCDS46413.1, CCDS58729.1, CCDS58730.1, CCDS74576.1, CCDS74577.1	2q22.1	2013-01-10			ENSG00000115762	ENSG00000115762		"""Pleckstrin homology (PH) domain containing"""	19236	protein-coding gene	gene with protein product						10200314	Standard	NM_017958		Approved	EVT2, FLJ20783	uc031rpd.1	Q96CS7	OTTHUMG00000131656	ENST00000403716.1:c.162C>G	2.37:g.131883450C>G	ENSP00000385892:p.Ile54Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DF08|B4DZ66|B8ZZN1|Q53FF1|Q53TH7|Q86W37|Q9BV75|Q9NWK1	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.I54M	ENST00000403716.1	37	c.162	CCDS46413.1	2	.	.	.	.	.	.	.	.	.	.	C	16.54	3.151314	0.57151	.	.	ENSG00000115762	ENST00000409158;ENST00000403716;ENST00000234115;ENST00000439822;ENST00000438882;ENST00000538982;ENST00000404460;ENST00000409612;ENST00000409279;ENST00000303908	D;D;D;D;D;T;D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86;-1.86;1.08;-1.86;-1.86;-1.86;-1.86	4.93	4.05	0.47172	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	U	0.000000	D	0.90748	0.7096	M	0.75264	2.295	0.58432	D	0.999994	D;D;D;D;D;D;D	0.76494	0.999;0.997;0.997;0.999;0.999;0.997;0.999	D;D;D;D;D;D;D	0.87578	0.998;0.995;0.995;0.995;0.997;0.995;0.997	D	0.89892	0.4038	10	0.42905	T	0.14	0.0046	11.4937	0.50396	0.0:0.9106:0.0:0.0894	.	54;54;54;54;54;54;54	B4DZ66;B4DF08;Q53FF1;Q96CS7-3;B7WPA5;Q96CS7;B8ZZN1	.;.;.;.;.;PKHB2_HUMAN;.	M	54;54;54;54;54;6;54;54;54;54	ENSP00000386410:I54M;ENSP00000385892:I54M;ENSP00000234115:I54M;ENSP00000389629:I54M;ENSP00000401193:I54M;ENSP00000444389:I6M;ENSP00000385609:I54M;ENSP00000386662:I54M;ENSP00000386666:I54M;ENSP00000306852:I54M	ENSP00000234115:I54M	I	+	3	3	PLEKHB2	131599920	0.998000	0.40836	1.000000	0.80357	0.922000	0.55478	0.522000	0.22909	1.204000	0.43247	0.462000	0.41574	ATC	PLEKHB2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000115762		0.522	PLEKHB2-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLEKHB2	HGNC	protein_coding	OTTHUMT00000331304.2	46	0.00	0	C	NM_017958		131883450	131883450	+1	no_errors	ENST00000303908	ensembl	human	known	69_37n	missense	55	12.70	8	SNP	1.000	G
PLEKHG1	57480	genome.wustl.edu	37	6	151153181	151153181	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:151153181G>C	ENST00000358517.2	+	15	3145	c.2934G>C	c.(2932-2934)atG>atC	p.M978I	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.M978I			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	978							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GGGTGTTTATGATGGCTCGGC	0.502																																						dbGAP											0													118.0	130.0	126.0					6																	151153181		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.2934G>C	6.37:g.151153181G>C	ENSP00000351318:p.Met978Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T1F2	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.M978I	ENST00000358517.2	37	c.2934	CCDS34552.1	6	.	.	.	.	.	.	.	.	.	.	G	13.67	2.305214	0.40795	.	.	ENSG00000120278	ENST00000367328;ENST00000358517	T;T	0.21932	1.98;1.98	5.81	3.91	0.45181	.	0.256644	0.45867	D	0.000331	T	0.12305	0.0299	L	0.56769	1.78	0.38161	D	0.939032	B;B;B	0.23442	0.085;0.001;0.001	B;B;B	0.15870	0.014;0.002;0.002	T	0.06023	-1.0850	10	0.72032	D	0.01	.	14.6598	0.68861	0.0:0.0:0.7351:0.2649	.	785;978;978	Q5EBL9;Q5JYA6;Q9ULL1	.;.;PKHG1_HUMAN	I	978	ENSP00000356297:M978I;ENSP00000351318:M978I	ENSP00000351318:M978I	M	+	3	0	PLEKHG1	151194874	1.000000	0.71417	0.995000	0.50966	0.948000	0.59901	2.717000	0.47227	1.440000	0.47531	-0.181000	0.13052	ATG	PLEKHG1	-	NULL	ENSG00000120278		0.502	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG1	HGNC	protein_coding	OTTHUMT00000042691.1	60	0.00	0	G			151153181	151153181	+1	no_errors	ENST00000358517	ensembl	human	known	69_37n	missense	26	27.78	10	SNP	1.000	C
PLEKHG2	64857	genome.wustl.edu	37	19	39904788	39904788	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:39904788G>A	ENST00000409794.3	+	2	912	c.62G>A	c.(61-63)cGa>cAa	p.R21Q	PLEKHG2_ENST00000409797.2_Missense_Mutation_p.R21Q|PLEKHG2_ENST00000378550.1_Missense_Mutation_p.R21Q|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.R21Q|PLEKHG2_ENST00000425673.1_Missense_Mutation_p.R21Q	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	21					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGGTGTGGCCGAAGAGGTGAA	0.622																																						dbGAP											0													75.0	87.0	84.0					19																	39904788		692	1591	2283	-	-	-	SO:0001583	missense	0			AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.62G>A	19.37:g.39904788G>A	ENSP00000386733:p.Arg21Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.R21Q	ENST00000409794.3	37	c.62	CCDS33022.2	19	.	.	.	.	.	.	.	.	.	.	G	14.38	2.519507	0.44866	.	.	ENSG00000090924	ENST00000409794;ENST00000425673;ENST00000378550;ENST00000458508;ENST00000438123;ENST00000409797;ENST00000451354	T;T;T;T;T;T	0.71934	-0.31;-0.26;-0.61;-0.43;-0.61;1.84	3.76	-6.34	0.01982	.	.	.	.	.	T	0.38639	0.1048	N	0.08118	0	0.09310	N	1	P;P;B	0.35328	0.495;0.495;0.272	B;B;B	0.26864	0.059;0.074;0.05	T	0.28299	-1.0048	9	0.40728	T	0.16	.	5.8045	0.18432	0.5373:0.2993:0.1633:0.0	.	21;21;21	Q9H7P9;E7ESZ3;Q9H7P9-2	PKHG2_HUMAN;.;.	Q	21	ENSP00000386733:R21Q;ENSP00000392906:R21Q;ENSP00000367812:R21Q;ENSP00000408857:R21Q;ENSP00000386492:R21Q;ENSP00000412818:R21Q	ENSP00000367812:R21Q	R	+	2	0	PLEKHG2	44596628	0.025000	0.19082	0.041000	0.18516	0.922000	0.55478	-0.142000	0.10311	-0.944000	0.03686	-0.218000	0.12543	CGA	PLEKHG2	-	NULL	ENSG00000090924		0.622	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG2	HGNC	protein_coding	OTTHUMT00000326802.1	54	0.00	0	G	NM_022835		39904788	39904788	+1	no_errors	ENST00000409794	ensembl	human	known	69_37n	missense	54	18.18	12	SNP	0.025	A
PLEKHG2	64857	genome.wustl.edu	37	19	39909616	39909616	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:39909616G>C	ENST00000409794.3	+	11	2086	c.1236G>C	c.(1234-1236)gaG>gaC	p.E412D	PLEKHG2_ENST00000409797.2_Missense_Mutation_p.E412D|PLEKHG2_ENST00000378550.1_Missense_Mutation_p.E412D|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.E353D|PLEKHG2_ENST00000425673.1_Missense_Mutation_p.E412D	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	412					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TCTTCTTTGAGAACCACCCTG	0.597																																						dbGAP											0													74.0	81.0	79.0					19																	39909616		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.1236G>C	19.37:g.39909616G>C	ENSP00000386733:p.Glu412Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.E412D	ENST00000409794.3	37	c.1236	CCDS33022.2	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.34|15.34	2.803289|2.803289	0.50315|0.50315	.|.	.|.	ENSG00000090924|ENSG00000090924	ENST00000409794;ENST00000425673;ENST00000378550;ENST00000458508;ENST00000409797|ENST00000205135	D;D;D;D;D|.	0.88046|.	-2.33;-2.33;-2.33;-2.33;-2.33|.	4.6|4.6	2.37|2.37	0.29283|0.29283	Pleckstrin homology-type (1);Pleckstrin homology domain (1);|.	0.185352|.	0.32244|.	N|.	0.006371|.	T|T	0.37945|0.37945	0.1022|0.1022	N|N	0.19112|0.19112	0.55|0.55	0.39609|0.39609	D|D	0.969851|0.969851	B;B;B;B|.	0.33494|.	0.099;0.307;0.175;0.414|.	B;B;B;B|.	0.39094|.	0.146;0.079;0.141;0.29|.	T|T	0.14144|0.14144	-1.0483|-1.0483	10|5	0.66056|.	D|.	0.02|.	.|.	7.2481|7.2481	0.26133|0.26133	0.3013:0.0:0.6987:0.0|0.3013:0.0:0.6987:0.0	.|.	412;412;353;412|.	Q9H7P9-3;Q9H7P9;E7ESZ3;Q9H7P9-2|.	.;PKHG2_HUMAN;.;.|.	D|T	412;412;412;353;412|309	ENSP00000386733:E412D;ENSP00000392906:E412D;ENSP00000367812:E412D;ENSP00000408857:E353D;ENSP00000386492:E412D|.	ENSP00000367812:E412D|.	E|R	+|+	3|2	2|0	PLEKHG2|PLEKHG2	44601456|44601456	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	0.914000|0.914000	0.28624|0.28624	1.181000|1.181000	0.42912|0.42912	0.462000|0.462000	0.41574|0.41574	GAG|AGA	PLEKHG2	-	smart_Pleckstrin_homology	ENSG00000090924		0.597	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG2	HGNC	protein_coding	OTTHUMT00000326802.1	32	0.00	0	G	NM_022835		39909616	39909616	+1	no_errors	ENST00000409794	ensembl	human	known	69_37n	missense	22	29.03	9	SNP	1.000	C
PLEKHG2	64857	genome.wustl.edu	37	19	39915317	39915317	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:39915317C>T	ENST00000409794.3	+	19	4394	c.3544C>T	c.(3544-3546)Ccg>Tcg	p.P1182S	PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.P1123S|PLEKHG2_ENST00000425673.1_Missense_Mutation_p.P1153S|CTB-60E11.4_ENST00000601124.1_lincRNA	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	1182	Pro-rich.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			ACCTCCACTTCCGGAGCCAAG	0.567																																						dbGAP											0													130.0	131.0	130.0					19																	39915317		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.3544C>T	19.37:g.39915317C>T	ENSP00000386733:p.Pro1182Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.P1182S	ENST00000409794.3	37	c.3544	CCDS33022.2	19	.	.	.	.	.	.	.	.	.	.	C	11.46	1.644709	0.29246	.	.	ENSG00000090924	ENST00000409794;ENST00000425673;ENST00000458508	T;T;T	0.68331	-0.19;-0.2;-0.32	4.07	3.01	0.34805	.	1.429870	0.05220	N	0.508372	T	0.52885	0.1762	N	0.22421	0.69	0.24096	N	0.995893	B;B;B	0.27732	0.187;0.067;0.067	B;B;B	0.19946	0.027;0.012;0.012	T	0.37103	-0.9720	9	.	.	.	.	10.4781	0.44676	0.0:0.8017:0.1983:0.0	.	1153;1182;1123	Q9H7P9-3;Q9H7P9;E7ESZ3	.;PKHG2_HUMAN;.	S	1182;1153;1123	ENSP00000386733:P1182S;ENSP00000392906:P1153S;ENSP00000408857:P1123S	.	P	+	1	0	PLEKHG2	44607157	0.000000	0.05858	0.007000	0.13788	0.075000	0.17131	0.558000	0.23469	1.010000	0.39314	0.511000	0.50034	CCG	PLEKHG2	-	NULL	ENSG00000090924		0.567	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG2	HGNC	protein_coding	OTTHUMT00000326802.1	55	0.00	0	C	NM_022835		39915317	39915317	+1	no_errors	ENST00000409794	ensembl	human	known	69_37n	missense	35	20.45	9	SNP	0.006	T
PLEKHG3	26030	genome.wustl.edu	37	14	65194521	65194521	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:65194521C>G	ENST00000394691.1	+	2	319	c.172C>G	c.(172-174)Ctg>Gtg	p.L58V	PLEKHG3_ENST00000247226.7_Missense_Mutation_p.L58V			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	58	Ser-rich.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		AAGCCGGCATCTGCCCAACAG	0.652																																						dbGAP											0													30.0	30.0	30.0					14																	65194521		2201	4300	6501	-	-	-	SO:0001583	missense	0			AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20364	protein-coding gene	gene with protein product			"""KIAA0599"""	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.172C>G	14.37:g.65194521C>G	ENSP00000378183:p.Leu58Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.L58V	ENST00000394691.1	37	c.172		14	.	.	.	.	.	.	.	.	.	.	C	1.427	-0.571419	0.03882	.	.	ENSG00000126822	ENST00000555982;ENST00000247226;ENST00000394691;ENST00000554499	T;T;T;T	0.60299	1.97;0.7;0.2;1.0	5.35	-8.46	0.00942	.	2.396660	0.01132	N	0.006011	T	0.32406	0.0828	N	0.22421	0.69	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.09377	0.002;0.004	T	0.42155	-0.9468	10	0.02654	T	1	.	6.0703	0.19885	0.2562:0.2587:0.4205:0.0647	.	58;58	A1L390;A1L390-3	PKHG3_HUMAN;.	V	58	ENSP00000450501:L58V;ENSP00000247226:L58V;ENSP00000378183:L58V;ENSP00000451256:L58V	ENSP00000247226:L58V	L	+	1	2	PLEKHG3	64264274	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.750000	0.04808	-1.095000	0.03050	0.561000	0.74099	CTG	PLEKHG3	-	NULL	ENSG00000126822		0.652	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	PLEKHG3	HGNC	protein_coding	OTTHUMT00000412028.1	14	0.00	0	C	NM_015549		65194521	65194521	+1	no_errors	ENST00000394691	ensembl	human	known	69_37n	missense	9	43.75	7	SNP	0.000	G
PLEKHG4B	153478	genome.wustl.edu	37	5	173086	173086	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:173086G>C	ENST00000283426.6	+	15	3107	c.3057G>C	c.(3055-3057)ctG>ctC	p.L1019L		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	1019	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		AGAAGTATCTGAGGCATGTGT	0.512																																						dbGAP											0													148.0	138.0	141.0					5																	173086		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.3057G>C	5.37:g.173086G>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.L1019	ENST00000283426.6	37	c.3057	CCDS34124.1	5																																																																																			PLEKHG4B	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000153404		0.512	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG4B	HGNC	protein_coding	OTTHUMT00000365359.1	73	0.00	0	G	NM_052909		173086	173086	+1	no_errors	ENST00000283426	ensembl	human	known	69_37n	silent	79	19.39	19	SNP	1.000	C
PLEKHG5	57449	genome.wustl.edu	37	1	6556591	6556591	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:6556591G>A	ENST00000400915.3	-	2	109	c.43C>T	c.(43-45)Cag>Tag	p.Q15*	PLEKHG5_ENST00000377740.3_Nonsense_Mutation_p.Q36*|PLEKHG5_ENST00000537245.1_Nonsense_Mutation_p.Q38*|PLEKHG5_ENST00000377732.1_5'UTR|PLEKHG5_ENST00000377748.1_Nonsense_Mutation_p.Q36*|PLEKHG5_ENST00000377737.2_5'UTR|PLEKHG5_ENST00000544978.1_5'UTR	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	15					apoptotic signaling pathway (GO:0097190)|endothelial cell chemotaxis (GO:0035767)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		GCGGGGTTCTGACAGCGCAGT	0.697																																						dbGAP											0													37.0	41.0	39.0					1																	6556591		1913	4116	6029	-	-	-	SO:0001587	stop_gained	0			AK024676	CCDS79.1, CCDS41240.1, CCDS41241.1, CCDS57967.1, CCDS57968.1, CCDS57969.1	1p36.31	2014-09-17		2005-08-09	ENSG00000171680	ENSG00000171680		"""Pleckstrin homology (PH) domain containing"""	29105	protein-coding gene	gene with protein product	"""synectin-binding guanine exchange factor"""	611101				17564964	Standard	NM_001042663		Approved	KIAA0720, Syx, GEF720, Tech	uc010nzr.1	O94827	OTTHUMG00000000905	ENST00000400915.3:c.43C>T	1.37:g.6556591G>A	ENSP00000383706:p.Gln15*	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	Nonsense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.Q38*	ENST00000400915.3	37	c.112	CCDS41241.1	1	.	.	.	.	.	.	.	.	.	.	G	42	9.683705	0.99238	.	.	ENSG00000171680	ENST00000377748;ENST00000400915;ENST00000377740;ENST00000537245	.	.	.	4.74	2.79	0.32731	.	0.639880	0.13749	N	0.365412	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-17.0185	11.6216	0.51121	0.0:0.3446:0.6554:0.0	.	.	.	.	X	36;15;36;38	.	ENSP00000366969:Q36X	Q	-	1	0	PLEKHG5	6479178	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.557000	0.45871	0.500000	0.27991	0.609000	0.83330	CAG	PLEKHG5	-	NULL	ENSG00000171680		0.697	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHG5	HGNC	protein_coding	OTTHUMT00000002631.1	47	0.00	0	G	NM_020631		6556591	6556591	-1	no_errors	ENST00000537245	ensembl	human	known	69_37n	nonsense	32	21.95	9	SNP	1.000	A
PLEKHM3	389072	genome.wustl.edu	37	2	208866250	208866250	+	Silent	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:208866250C>A	ENST00000427836.2	-	2	603	c.114G>T	c.(112-114)ggG>ggT	p.G38G	PLEKHM3_ENST00000389247.4_Silent_p.G38G|PLEKHM3_ENST00000457206.1_Silent_p.G38G	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	38					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTTCCTGGATCCCATAAACCT	0.478																																						dbGAP											0													113.0	112.0	112.0					2																	208866250		1926	4130	6056	-	-	-	SO:0001819	synonymous_variant	0			AK057612	CCDS42808.1	2q33.3	2013-01-10	2008-04-03	2008-04-03	ENSG00000178385	ENSG00000178385		"""Pleckstrin homology (PH) domain containing"""	34006	protein-coding gene	gene with protein product	"""differentiation associated protein"""		"""pleckstrin homology domain containing, family M, member 1-like"""	PLEKHM1L		19028694	Standard	NM_001080475		Approved	DAPR	uc002vcl.2	Q6ZWE6	OTTHUMG00000154781	ENST00000427836.2:c.114G>T	2.37:g.208866250C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B9EKV2|Q8WW68	Silent	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.G38	ENST00000427836.2	37	c.114	CCDS42808.1	2																																																																																			PLEKHM3	-	NULL	ENSG00000178385		0.478	PLEKHM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHM3	HGNC	protein_coding	OTTHUMT00000337036.1	60	0.00	0	C	NM_001080475		208866250	208866250	-1	no_errors	ENST00000427836	ensembl	human	known	69_37n	silent	82	17.17	17	SNP	0.850	A
PLG	5340	genome.wustl.edu	37	6	161135825	161135825	+	Splice_Site	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:161135825G>C	ENST00000308192.9	+	6	610		c.e6-1			NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen						blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	ACTCTGTCCAGAGGAATGTAT	0.468																																						dbGAP											0													61.0	61.0	61.0					6																	161135825		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.548-1G>C	6.37:g.161135825G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q15146|Q5TEH4|Q6PA00	Splice_Site	SNP	-	e6-1	ENST00000308192.9	37	c.548-1	CCDS5279.1	6	.	.	.	.	.	.	.	.	.	.	G	15.76	2.929446	0.52759	.	.	ENSG00000122194	ENST00000308192	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7629	0.91860	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PLG	161055815	1.000000	0.71417	0.438000	0.26821	0.369000	0.29798	9.354000	0.97083	2.723000	0.93209	0.655000	0.94253	.	PLG	-	-	ENSG00000122194		0.468	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLG	HGNC	protein_coding	OTTHUMT00000042959.2	62	0.00	0	G	NM_000301	Intron	161135825	161135825	+1	no_errors	ENST00000308192	ensembl	human	known	69_37n	splice_site	44	20.00	11	SNP	0.983	C
PLIN5	440503	genome.wustl.edu	37	19	4525716	4525716	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:4525716C>T	ENST00000381848.3	-	6	729	c.649G>A	c.(649-651)Gtg>Atg	p.V217M		NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	217	Interaction with PNPLA2 and ABHD5. {ECO:0000250}.				lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|mitochondrion localization (GO:0051646)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of lipase activity (GO:0060192)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of triglyceride catabolic process (GO:0010897)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of lipase activity (GO:0060193)|positive regulation of lipid storage (GO:0010884)|positive regulation of sequestering of triglyceride (GO:0010890)|positive regulation of triglyceride biosynthetic process (GO:0010867)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						AGTTTCCCCACAGAGTGCTCG	0.657																																						dbGAP											0													57.0	67.0	63.0					19																	4525716		2137	4231	6368	-	-	-	SO:0001583	missense	0			DQ839131	CCDS42473.1	19p13.3	2009-08-12			ENSG00000214456	ENSG00000214456		"""Perilipins"""	33196	protein-coding gene	gene with protein product	"""lipid storage droplet protein 5"""	613248				17234449, 19638644	Standard	NM_001013706		Approved	LSDP5, LSDA5, OXPAT, MLDP	uc002mas.3	Q00G26		ENST00000381848.3:c.649G>A	19.37:g.4525716C>T	ENSP00000371272:p.Val217Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRC1|Q6ZS68	Missense_Mutation	SNP	pfam_Perilipin,pirsf_Perilipin	p.V217M	ENST00000381848.3	37	c.649	CCDS42473.1	19	.	.	.	.	.	.	.	.	.	.	.	21.9	4.218097	0.79464	.	.	ENSG00000214456	ENST00000381848	T	0.18502	2.21	4.92	2.72	0.32119	.	0.000000	0.52532	U	0.000076	T	0.09512	0.0234	N	0.24115	0.695	0.80722	D	1	B	0.10296	0.003	B	0.16722	0.016	T	0.23368	-1.0190	10	0.62326	D	0.03	-2.9105	1.7536	0.02977	0.1843:0.1642:0.4821:0.1695	.	217	Q00G26	PLIN5_HUMAN	M	217	ENSP00000371272:V217M	ENSP00000371272:V217M	V	-	1	0	PLIN5	4476716	0.695000	0.27747	0.964000	0.40570	0.955000	0.61496	0.757000	0.26433	0.191000	0.20236	-0.216000	0.12614	GTG	PLIN5	-	pfam_Perilipin,pirsf_Perilipin	ENSG00000214456		0.657	PLIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLIN5	HGNC	protein_coding	OTTHUMT00000458647.1	44	0.00	0	C	NM_001013706		4525716	4525716	-1	no_errors	ENST00000381848	ensembl	human	known	69_37n	missense	27	32.50	13	SNP	0.911	T
PLK2	10769	genome.wustl.edu	37	5	57751523	57751523	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:57751523C>G	ENST00000274289.3	-	11	1768	c.1468G>C	c.(1468-1470)Gat>Cat	p.D490H	PLK2_ENST00000502671.1_Intron	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	490					G1/S transition of mitotic cell cycle (GO:0000082)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|mitotic cell cycle checkpoint (GO:0007093)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|Rap protein signal transduction (GO:0032486)|Ras protein signal transduction (GO:0007265)|regulation of centriole replication (GO:0046599)|regulation of synaptic plasticity (GO:0048167)	centriole (GO:0005814)|centrosome (GO:0005813)|dendrite (GO:0030425)|intracellular (GO:0005622)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		GGAATGCAATCAGCTTCCGGC	0.483																																						dbGAP											0													95.0	93.0	94.0					5																	57751523		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3974.1, CCDS75250.1	5q12.1-q13.2	2013-01-18	2010-06-24		ENSG00000145632	ENSG00000145632			19699	protein-coding gene	gene with protein product	"""serum-inducible kinase"""	607023	"""polo-like kinase 2 (Drosophila)"""				Standard	NM_006622		Approved	SNK	uc003jrn.3	Q9NYY3	OTTHUMG00000097047	ENST00000274289.3:c.1468G>C	5.37:g.57751523C>G	ENSP00000274289:p.Asp490His	Somatic		WXS	Illumina GAIIx	Phase_IV	O60679|Q96CV7|Q9UE61	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_cat_dom	p.D490H	ENST00000274289.3	37	c.1468	CCDS3974.1	5	.	.	.	.	.	.	.	.	.	.	C	15.48	2.846006	0.51164	.	.	ENSG00000145632	ENST00000274289	T	0.14640	2.49	5.88	5.88	0.94601	.	0.086849	0.85682	D	0.000000	T	0.23330	0.0564	L	0.54323	1.7	0.58432	D	0.999997	P	0.40875	0.731	B	0.43990	0.438	T	0.00174	-1.1956	10	0.54805	T	0.06	-27.7628	20.2422	0.98381	0.0:1.0:0.0:0.0	.	490	Q9NYY3	PLK2_HUMAN	H	490	ENSP00000274289:D490H	ENSP00000274289:D490H	D	-	1	0	PLK2	57787280	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	4.384000	0.59607	2.788000	0.95919	0.650000	0.86243	GAT	PLK2	-	NULL	ENSG00000145632		0.483	PLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLK2	HGNC	protein_coding	OTTHUMT00000214150.1	123	0.00	0	C	NM_006622		57751523	57751523	-1	no_errors	ENST00000274289	ensembl	human	known	69_37n	missense	76	14.61	13	SNP	1.000	G
PLK4	10733	genome.wustl.edu	37	4	128807454	128807454	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:128807454G>C	ENST00000270861.5	+	5	1203	c.929G>C	c.(928-930)aGa>aCa	p.R310T	PLK4_ENST00000513090.1_Missense_Mutation_p.R278T|PLK4_ENST00000507249.1_Missense_Mutation_p.R310T|PLK4_ENST00000514379.1_Missense_Mutation_p.R269T|PLK4_ENST00000515069.1_Missense_Mutation_p.R310T	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	310					centriole replication (GO:0007099)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of centriole replication (GO:0046601)|protein phosphorylation (GO:0006468)|trophoblast giant cell differentiation (GO:0060707)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						TTTGACAAAAGAAGACTTTTG	0.363																																					Colon(135;508 1718 19061 31832 42879)	dbGAP											0													40.0	42.0	41.0					4																	128807454		2203	4299	6502	-	-	-	SO:0001583	missense	0			Y13115	CCDS3735.1, CCDS54803.1, CCDS54804.1	4q27-q28	2013-01-18	2010-06-24	2004-01-28	ENSG00000142731	ENSG00000142731			11397	protein-coding gene	gene with protein product		605031	"""serine/threonine kinase 18"", ""polo-like kinase 4 (Drosophila)"""	STK18			Standard	NM_014264		Approved	Sak	uc003ifo.3	O00444	OTTHUMG00000133301	ENST00000270861.5:c.929G>C	4.37:g.128807454G>C	ENSP00000270861:p.Arg310Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAL0|B7Z837|B7Z8G7|Q8IYF0|Q96Q95|Q9UD84|Q9UDE2	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_cat_dom	p.R310T	ENST00000270861.5	37	c.929	CCDS3735.1	4	.	.	.	.	.	.	.	.	.	.	G	11.31	1.599574	0.28534	.	.	ENSG00000142731	ENST00000270861;ENST00000515069;ENST00000513090;ENST00000507249;ENST00000514379	T;T;T;T;T	0.68903	-0.2;-0.2;-0.36;-0.17;-0.28	5.47	3.71	0.42584	.	0.253328	0.44285	D	0.000468	T	0.53158	0.1779	L	0.43152	1.355	0.35537	D	0.802707	B;B	0.19331	0.035;0.021	B;B	0.15052	0.012;0.005	T	0.55127	-0.8189	10	0.19147	T	0.46	-10.5565	9.1297	0.36837	0.2591:0.0:0.7409:0.0	.	278;310	O00444-2;O00444	.;PLK4_HUMAN	T	310;310;278;310;269	ENSP00000270861:R310T;ENSP00000421774:R310T;ENSP00000427554:R278T;ENSP00000423412:R310T;ENSP00000423582:R269T	ENSP00000270861:R310T	R	+	2	0	PLK4	129026904	1.000000	0.71417	0.988000	0.46212	0.983000	0.72400	2.618000	0.46393	1.426000	0.47256	0.655000	0.94253	AGA	PLK4	-	NULL	ENSG00000142731		0.363	PLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLK4	HGNC	protein_coding	OTTHUMT00000257095.3	43	0.00	0	G			128807454	128807454	+1	no_errors	ENST00000270861	ensembl	human	known	69_37n	missense	33	28.26	13	SNP	1.000	C
PLXNA1	5361	genome.wustl.edu	37	3	126739145	126739145	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:126739145C>G	ENST00000393409.2	+	20	3996	c.3996C>G	c.(3994-3996)ctC>ctG	p.L1332L	PLXNA1_ENST00000251772.4_Silent_p.L1309L	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1332					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TGCGGGTGCTCTTTCCTGGGA	0.597																																						dbGAP											0													91.0	74.0	79.0					3																	126739145		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.3996C>G	3.37:g.126739145C>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	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.L1332	ENST00000393409.2	37	c.3996	CCDS33847.2	3																																																																																			PLXNA1	-	pfam_Plexin_cytoplasmic_RasGAP_dom	ENSG00000114554		0.597	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA1	HGNC	protein_coding	OTTHUMT00000356451.1	29	0.00	0	C	NM_032242		126739145	126739145	+1	no_errors	ENST00000393409	ensembl	human	known	69_37n	silent	65	15.58	12	SNP	0.936	G
PLXNA2	5362	genome.wustl.edu	37	1	208215578	208215578	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:208215578C>T	ENST00000367033.3	-	22	4908	c.4151G>A	c.(4150-4152)gGc>gAc	p.G1384D		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1384					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)		AGCCACGTTGCCCCGGTCGCG	0.587																																						dbGAP											0													94.0	92.0	93.0					1																	208215578		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.4151G>A	1.37:g.208215578C>T	ENSP00000356000:p.Gly1384Asp	Somatic		WXS	Illumina GAIIx	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.G1384D	ENST00000367033.3	37	c.4151	CCDS31013.1	1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.288650	0.80914	.	.	ENSG00000076356	ENST00000367033	T	0.11930	2.73	5.15	5.15	0.70609	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.044558	0.85682	N	0.000000	T	0.43211	0.1237	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.42982	-0.9419	10	0.52906	T	0.07	.	18.6381	0.91385	0.0:1.0:0.0:0.0	.	1384	O75051	PLXA2_HUMAN	D	1384	ENSP00000356000:G1384D	ENSP00000356000:G1384D	G	-	2	0	PLXNA2	206282201	1.000000	0.71417	0.999000	0.59377	0.897000	0.52465	7.480000	0.81109	2.391000	0.81399	0.455000	0.32223	GGC	PLXNA2	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot	ENSG00000076356		0.587	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA2	HGNC	protein_coding	OTTHUMT00000088932.6	97	0.00	0	C	NM_025179		208215578	208215578	-1	no_errors	ENST00000367033	ensembl	human	known	69_37n	missense	180	14.29	30	SNP	1.000	T
PLXNA4	91584	genome.wustl.edu	37	7	131859547	131859547	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:131859547C>T	ENST00000359827.3	-	21	4969	c.4007G>A	c.(4006-4008)cGg>cAg	p.R1336Q	PLXNA4_ENST00000321063.4_Missense_Mutation_p.R1336Q			Q9HCM2	PLXA4_HUMAN	plexin A4	1336					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CTCAAGGTCCCGGAGGACAGG	0.552																																						dbGAP											0													101.0	105.0	103.0					7																	131859547		2088	4242	6330	-	-	-	SO:0001583	missense	0			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.4007G>A	7.37:g.131859547C>T	ENSP00000352882:p.Arg1336Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	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.R1336Q	ENST00000359827.3	37	c.4007	CCDS43646.1	7	.	.	.	.	.	.	.	.	.	.	C	13.43	2.234308	0.39498	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.11277	2.79;2.79	5.59	5.59	0.84812	Plexin, cytoplasmic RasGAP domain (1);	0.000000	0.53938	D	0.000048	T	0.09379	0.0231	N	0.17278	0.47	0.58432	D	0.999998	P	0.35551	0.509	B	0.38264	0.269	T	0.34601	-0.9822	10	0.12430	T	0.62	.	19.5911	0.95511	0.0:1.0:0.0:0.0	.	1336	Q9HCM2	PLXA4_HUMAN	Q	1336	ENSP00000323194:R1336Q;ENSP00000352882:R1336Q	ENSP00000323194:R1336Q	R	-	2	0	PLXNA4	131510087	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	3.284000	0.51708	2.643000	0.89663	0.655000	0.94253	CGG	PLXNA4	-	pfam_Plexin_cytoplasmic_RasGAP_dom	ENSG00000221866		0.552	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA4	HGNC	protein_coding	OTTHUMT00000338422.2	52	0.00	0	C	NM_181775		131859547	131859547	-1	no_errors	ENST00000321063	ensembl	human	known	69_37n	missense	57	16.18	11	SNP	1.000	T
PLXNA4	91584	genome.wustl.edu	37	7	132169688	132169688	+	Intron	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:132169688G>A	ENST00000359827.3	-	3	2334				PLXNA4_ENST00000423507.2_Intron|PLXNA4_ENST00000378539.5_Nonsense_Mutation_p.Q486*|PLXNA4_ENST00000321063.4_Intron			Q9HCM2	PLXA4_HUMAN	plexin A4						anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						ATCTGTTCCTGAGAAGCAATG	0.512																																						dbGAP											0													103.0	98.0	100.0					7																	132169688		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.1371+4362C>T	7.37:g.132169688G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Nonsense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag	p.Q486*	ENST00000359827.3	37	c.1456	CCDS43646.1	7	.	.	.	.	.	.	.	.	.	.	G	36	5.713150	0.96830	.	.	ENSG00000221866	ENST00000378539	.	.	.	3.16	-0.914	0.10497	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	2.351	0.04283	0.1132:0.362:0.3397:0.1852	.	.	.	.	X	486	.	ENSP00000367800:Q486X	Q	-	1	0	PLXNA4	131820228	0.075000	0.21258	0.001000	0.08648	0.533000	0.34776	-0.163000	0.09997	-0.209000	0.10156	-0.225000	0.12378	CAG	PLXNA4	-	superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag	ENSG00000221866		0.512	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA4	HGNC	protein_coding	OTTHUMT00000338422.2	58	0.00	0	G	NM_181775		132169688	132169688	-1	no_errors	ENST00000378539	ensembl	human	known	69_37n	nonsense	65	23.53	20	SNP	0.001	A
PLXNA4	91584	genome.wustl.edu	37	7	132174105	132174105	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:132174105G>C	ENST00000359827.3	-	3	2279	c.1317C>G	c.(1315-1317)gtC>gtG	p.V439V	PLXNA4_ENST00000423507.2_Silent_p.V439V|PLXNA4_ENST00000378539.5_Silent_p.V439V|PLXNA4_ENST00000321063.4_Silent_p.V439V			Q9HCM2	PLXA4_HUMAN	plexin A4	439	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GGTTCTTGTAGACATATGCGA	0.527																																						dbGAP											0													131.0	106.0	114.0					7																	132174105		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.1317C>G	7.37:g.132174105G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Silent	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.V439	ENST00000359827.3	37	c.1317	CCDS43646.1	7																																																																																			PLXNA4	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag	ENSG00000221866		0.527	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA4	HGNC	protein_coding	OTTHUMT00000338422.2	58	0.00	0	G	NM_181775		132174105	132174105	-1	no_errors	ENST00000321063	ensembl	human	known	69_37n	silent	61	16.44	12	SNP	1.000	C
PLXNB2	23654	genome.wustl.edu	37	22	50718989	50718989	+	Silent	SNP	G	G	T	rs28735952		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:50718989G>T	ENST00000449103.1	-	25	4244	c.4104C>A	c.(4102-4104)atC>atA	p.I1368I	PLXNB2_ENST00000359337.4_Silent_p.I1368I|PLXNB2_ENST00000496720.1_5'Flank			O15031	PLXB2_HUMAN	plexin B2	1368					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|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)		GCGTGTGCATGATGTCCGTGT	0.652																																						dbGAP											0													92.0	100.0	97.0					22																	50718989		2193	4295	6488	-	-	-	SO:0001819	synonymous_variant	0				CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.4104C>A	22.37:g.50718989G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6QRH0|Q7KZU3|Q9BSU7	Silent	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.I1368	ENST00000449103.1	37	c.4104	CCDS43035.1	22																																																																																			PLXNB2	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot	ENSG00000196576		0.652	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNB2	HGNC	protein_coding	OTTHUMT00000316874.3	11	0.00	0	G	NM_012401		50718989	50718989	-1	no_errors	ENST00000359337	ensembl	human	known	69_37n	silent	17	32.00	8	SNP	1.000	T
PLXNB2	23654	genome.wustl.edu	37	22	50720621	50720621	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:50720621G>A	ENST00000449103.1	-	19	3249	c.3109C>T	c.(3109-3111)Ccc>Tcc	p.P1037S	PLXNB2_ENST00000359337.4_Missense_Mutation_p.P1037S|PLXNB2_ENST00000496720.1_5'Flank			O15031	PLXB2_HUMAN	plexin B2	1037	IPT/TIG 3.				brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|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)		ACCGTCATGGGCTGCAGGGAT	0.697																																						dbGAP											0													23.0	27.0	26.0					22																	50720621		2025	4156	6181	-	-	-	SO:0001583	missense	0				CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.3109C>T	22.37:g.50720621G>A	ENSP00000409171:p.Pro1037Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A6QRH0|Q7KZU3|Q9BSU7	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.P1037S	ENST00000449103.1	37	c.3109	CCDS43035.1	22	.	.	.	.	.	.	.	.	.	.	G	6.997	0.554093	0.13374	.	.	ENSG00000196576	ENST00000449103;ENST00000359337	T;T	0.74842	-0.88;-0.88	4.59	0.908	0.19326	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.744593	0.11064	N	0.603623	T	0.53498	0.1800	N	0.21448	0.665	0.30120	N	0.805784	B	0.02656	0.0	B	0.04013	0.001	T	0.43065	-0.9414	10	0.21014	T	0.42	.	3.5688	0.07909	0.1003:0.1648:0.5662:0.1688	.	1037	O15031	PLXB2_HUMAN	S	1037	ENSP00000409171:P1037S;ENSP00000352288:P1037S	ENSP00000352288:P1037S	P	-	1	0	PLXNB2	49062748	0.039000	0.19947	0.178000	0.23040	0.056000	0.15407	0.450000	0.21762	0.453000	0.26858	0.305000	0.20034	CCC	PLXNB2	-	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt	ENSG00000196576		0.697	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNB2	HGNC	protein_coding	OTTHUMT00000316874.3	16	0.00	0	G	NM_012401		50720621	50720621	-1	no_errors	ENST00000359337	ensembl	human	known	69_37n	missense	14	41.67	10	SNP	0.513	A
PLXNB3	5365	genome.wustl.edu	37	X	153042978	153042978	+	Intron	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:153042978C>T	ENST00000361971.5	+	31	5214				PLXNB3_ENST00000485980.1_Intron|PLXNB3_ENST00000538966.1_Intron|SRPK3_ENST00000489426.1_Intron|PLXNB3_ENST00000538776.1_Intron	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3						axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCCCTGCCTCGCAGGGCACG	0.657																																						dbGAP											0													74.0	59.0	64.0					X																	153042978		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.5101-5C>T	X.37:g.153042978C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot	p.R3C	ENST00000361971.5	37	c.7	CCDS14729.1	X	.	.	.	.	.	.	.	.	.	.	C	15.32	2.797270	0.50208	.	.	ENSG00000198753	ENST00000448847	.	.	.	5.0	-4.11	0.03928	.	.	.	.	.	T	0.29389	0.0732	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36114	-0.9761	4	.	.	.	.	8.8047	0.34929	0.0:0.5066:0.1278:0.3656	.	.	.	.	C	3	.	.	R	+	1	0	PLXNB3	152696172	0.000000	0.05858	0.001000	0.08648	0.164000	0.22412	-0.373000	0.07494	-0.748000	0.04753	-1.225000	0.01585	CGC	PLXNB3	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot	ENSG00000198753		0.657	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLXNB3	HGNC	protein_coding	OTTHUMT00000061063.1	34	0.00	0	C			153042978	153042978	+1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000448847	ensembl	human	known	69_37n	missense	40	18.37	9	SNP	0.000	T
PM20D2	135293	genome.wustl.edu	37	6	89859062	89859062	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:89859062C>G	ENST00000275072.4	+	2	639	c.544C>G	c.(544-546)Ctt>Gtt	p.L182V		NM_001010853.1	NP_001010853.1	Q8IYS1	P20D2_HUMAN	peptidase M20 domain containing 2	182						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|skin(1)	12		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00813)		TTTTACAAATCTTGATGTTGT	0.403																																						dbGAP											0													161.0	159.0	160.0					6																	89859062		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC035036	CCDS34499.1	6q15	2014-07-14	2007-11-14	2007-11-14	ENSG00000146281	ENSG00000146281			21408	protein-coding gene	gene with protein product	"""&#946;-alanyl-lysine dipeptidase"""	615913	"""aminoacylase 1-like 2"""	ACY1L2		24891507	Standard	NM_001010853		Approved	bA63L7.3	uc003pmz.4	Q8IYS1	OTTHUMG00000015193	ENST00000275072.4:c.544C>G	6.37:g.89859062C>G	ENSP00000275072:p.Leu182Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DYJ2|Q5T7J9|Q6MZV2|Q86XD9	Missense_Mutation	SNP	pfam_Peptidase_M20_dimer,pfam_Peptidase_M20,superfamily_Peptidase_M20_dimer,pirsf_Pept_M20D_amidohydro_pred	p.L182V	ENST00000275072.4	37	c.544	CCDS34499.1	6	.	.	.	.	.	.	.	.	.	.	C	4.910	0.169058	0.09339	.	.	ENSG00000146281	ENST00000275072	T	0.37235	1.21	5.87	5.87	0.94306	.	0.292105	0.33813	N	0.004540	T	0.06050	0.0157	N	0.02842	-0.48	0.33190	D	0.550745	B	0.10296	0.003	B	0.20184	0.028	T	0.08411	-1.0723	10	0.02654	T	1	-11.5909	14.9754	0.71267	0.1427:0.8572:0.0:0.0	.	182	Q8IYS1	P20D2_HUMAN	V	182	ENSP00000275072:L182V	ENSP00000275072:L182V	L	+	1	0	PM20D2	89915781	0.719000	0.27986	1.000000	0.80357	0.924000	0.55760	0.431000	0.21444	2.941000	0.99782	0.655000	0.94253	CTT	PM20D2	-	pfam_Peptidase_M20,pirsf_Pept_M20D_amidohydro_pred	ENSG00000146281		0.403	PM20D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PM20D2	HGNC	protein_coding	OTTHUMT00000041477.1	125	0.00	0	C	NM_001010853		89859062	89859062	+1	no_errors	ENST00000275072	ensembl	human	known	69_37n	missense	66	26.67	24	SNP	1.000	G
PM20D2	135293	genome.wustl.edu	37	6	89859097	89859097	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:89859097G>C	ENST00000275072.4	+	2	674	c.579G>C	c.(577-579)gaG>gaC	p.E193D		NM_001010853.1	NP_001010853.1	Q8IYS1	P20D2_HUMAN	peptidase M20 domain containing 2	193						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|skin(1)	12		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00813)		CATCACAAGAGAATGCTGCTT	0.393																																						dbGAP											0													153.0	153.0	153.0					6																	89859097		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC035036	CCDS34499.1	6q15	2014-07-14	2007-11-14	2007-11-14	ENSG00000146281	ENSG00000146281			21408	protein-coding gene	gene with protein product	"""&#946;-alanyl-lysine dipeptidase"""	615913	"""aminoacylase 1-like 2"""	ACY1L2		24891507	Standard	NM_001010853		Approved	bA63L7.3	uc003pmz.4	Q8IYS1	OTTHUMG00000015193	ENST00000275072.4:c.579G>C	6.37:g.89859097G>C	ENSP00000275072:p.Glu193Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DYJ2|Q5T7J9|Q6MZV2|Q86XD9	Missense_Mutation	SNP	pfam_Peptidase_M20_dimer,pfam_Peptidase_M20,superfamily_Peptidase_M20_dimer,pirsf_Pept_M20D_amidohydro_pred	p.E193D	ENST00000275072.4	37	c.579	CCDS34499.1	6	.	.	.	.	.	.	.	.	.	.	G	13.70	2.314612	0.40996	.	.	ENSG00000146281	ENST00000275072	T	0.42131	0.98	5.87	4.07	0.47477	.	0.101329	0.64402	D	0.000002	T	0.24509	0.0594	L	0.46947	1.48	0.42638	D	0.993405	P	0.44578	0.838	P	0.47915	0.561	T	0.04509	-1.0946	10	0.13108	T	0.6	-15.5179	9.9646	0.41717	0.2325:0.0:0.7675:0.0	.	193	Q8IYS1	P20D2_HUMAN	D	193	ENSP00000275072:E193D	ENSP00000275072:E193D	E	+	3	2	PM20D2	89915816	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.081000	0.41596	1.626000	0.50381	0.655000	0.94253	GAG	PM20D2	-	pfam_Peptidase_M20,pirsf_Pept_M20D_amidohydro_pred	ENSG00000146281		0.393	PM20D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PM20D2	HGNC	protein_coding	OTTHUMT00000041477.1	114	0.00	0	G	NM_001010853		89859097	89859097	+1	no_errors	ENST00000275072	ensembl	human	known	69_37n	missense	85	18.27	19	SNP	1.000	C
PMCH	5367	genome.wustl.edu	37	12	102591446	102591446	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:102591446C>T	ENST00000329406.4	-	1	177	c.103G>A	c.(103-105)Gat>Aat	p.D35N		NM_002674.2	NP_002665.2	P20382	MCH_HUMAN	pro-melanin-concentrating hormone	35					cell differentiation (GO:0030154)|feeding behavior (GO:0007631)|multicellular organismal development (GO:0007275)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|nucleus (GO:0005634)				large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	6						ACCATGTCATCATCTAAATTT	0.328																																						dbGAP											0													71.0	69.0	70.0					12																	102591446		2201	4300	6501	-	-	-	SO:0001583	missense	0			M57703	CCDS31885.1	12q23.2	2013-02-26			ENSG00000183395	ENSG00000183395		"""Endogenous ligands"""	9109	protein-coding gene	gene with protein product		176795				2149166	Standard	NM_002674		Approved	MCH	uc001tjl.3	P20382	OTTHUMG00000170479	ENST00000329406.4:c.103G>A	12.37:g.102591446C>T	ENSP00000332225:p.Asp35Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16044|Q8WVG0	Missense_Mutation	SNP	pfam_Prepro-melanin_conc_hormone,prints_Prepro-melanin_conc_hormone	p.D35N	ENST00000329406.4	37	c.103	CCDS31885.1	12	.	.	.	.	.	.	.	.	.	.	C	15.16	2.749764	0.49257	.	.	ENSG00000183395	ENST00000329406	.	.	.	6.17	6.17	0.99709	.	0.257895	0.36893	N	0.002350	T	0.41811	0.1175	L	0.29908	0.895	0.43069	D	0.994705	P	0.42409	0.779	B	0.37480	0.251	T	0.46034	-0.9220	9	0.87932	D	0	.	13.9957	0.64397	0.0:0.9315:0.0:0.0685	.	35	P20382	MCH_HUMAN	N	35	.	ENSP00000332225:D35N	D	-	1	0	PMCH	101115576	1.000000	0.71417	0.998000	0.56505	0.807000	0.45602	3.709000	0.54853	2.941000	0.99782	0.655000	0.94253	GAT	PMCH	-	NULL	ENSG00000183395		0.328	PMCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMCH	HGNC	protein_coding	OTTHUMT00000409337.1	122	0.00	0	C	NM_002674		102591446	102591446	-1	no_errors	ENST00000329406	ensembl	human	known	69_37n	missense	121	24.38	39	SNP	1.000	T
PMS2	5395	genome.wustl.edu	37	7	6013168	6013168	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:6013168C>T	ENST00000265849.7	-	15	2556	c.2451G>A	c.(2449-2451)atG>atA	p.M817I	RSPH10B_ENST00000405415.1_5'Flank|RSPH10B_ENST00000404406.1_5'Flank|PMS2_ENST00000441476.2_Missense_Mutation_p.M711I|PMS2_ENST00000382321.4_Missense_Mutation_p.M416I	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	817					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		CAGTCCCAATCATCACCTGAG	0.473			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													dbGAP	yes	Rec		"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	7	7p22	5395	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)		E	0													5.0	5.0	5.0					7																	6013168		1574	3325	4899	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"""postmeiotic segregation increased (S. cerevisiae) 2"""	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.2451G>A	7.37:g.6013168C>T	ENSP00000265849:p.Met817Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Missense_Mutation	SNP	pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_MutL_C,tigrfam_DNA_mismatch_repair_N	p.M817I	ENST00000265849.7	37	c.2451	CCDS5343.1	7	.	.	.	.	.	.	.	.	.	.	C	22.2	4.252066	0.80135	.	.	ENSG00000122512	ENST00000265849;ENST00000382322;ENST00000382321;ENST00000441476	T;T;T	0.74209	-0.82;-0.82;-0.82	5.35	5.35	0.76521	MutL, C-terminal, dimerisation (2);	0.000000	0.85682	D	0.000000	D	0.91106	0.7200	H	0.96691	3.865	0.80722	D	1	D;D;D	0.71674	0.982;0.998;0.998	D;D;D	0.79108	0.961;0.992;0.991	D	0.93843	0.7138	10	0.72032	D	0.01	-19.5411	18.0569	0.89366	0.0:1.0:0.0:0.0	.	416;817;711	P54278-2;P54278;C9J167	.;PMS2_HUMAN;.	I	817;770;416;711	ENSP00000265849:M817I;ENSP00000371758:M416I;ENSP00000392843:M711I	ENSP00000265849:M817I	M	-	3	0	PMS2	5979694	1.000000	0.71417	1.000000	0.80357	0.589000	0.36550	7.814000	0.86154	2.526000	0.85167	0.561000	0.74099	ATG	PMS2	-	pfam_MutL_C,smart_MutL_C	ENSG00000122512		0.473	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMS2	HGNC	protein_coding	OTTHUMT00000207353.3	11	0.00	0	C	NM_000535		6013168	6013168	-1	no_errors	ENST00000265849	ensembl	human	known	69_37n	missense	2	75.00	6	SNP	1.000	T
PMS2	5395	genome.wustl.edu	37	7	6017294	6017294	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:6017294C>T	ENST00000265849.7	-	14	2475	c.2370G>A	c.(2368-2370)ctG>ctA	p.L790L	PMS2_ENST00000441476.2_Silent_p.L684L|PMS2_ENST00000382321.4_Silent_p.L389L	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	790					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		GGCTGTCGCTCAGCATGAAGA	0.527			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													dbGAP	yes	Rec		"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	7	7p22	5395	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)		E	0													43.0	36.0	38.0					7																	6017294		2191	4280	6471	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"""postmeiotic segregation increased (S. cerevisiae) 2"""	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.2370G>A	7.37:g.6017294C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Silent	SNP	pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_MutL_C,tigrfam_DNA_mismatch_repair_N	p.L790	ENST00000265849.7	37	c.2370	CCDS5343.1	7																																																																																			PMS2	-	pfam_MutL_C,smart_MutL_C	ENSG00000122512		0.527	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMS2	HGNC	protein_coding	OTTHUMT00000207353.3	64	0.00	0	C	NM_000535		6017294	6017294	-1	no_errors	ENST00000265849	ensembl	human	known	69_37n	silent	62	18.42	14	SNP	0.031	T
PNKD	25953	genome.wustl.edu	37	2	219137293	219137293	+	Intron	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:219137293G>T	ENST00000273077.4	+	2	287				PNKD_ENST00000248451.3_Splice_Site_p.W79C|PNKD_ENST00000472650.1_Intron|AAMP_ENST00000444053.1_5'Flank|AAMP_ENST00000420660.1_5'Flank|AAMP_ENST00000248450.4_5'Flank	NM_015488.4	NP_056303.3	Q8N490	PNKD_HUMAN	paroxysmal nonkinesigenic dyskinesia						glutathione biosynthetic process (GO:0006750)|neuromuscular process controlling posture (GO:0050884)|regulation of dopamine metabolic process (GO:0042053)|regulation of synaptic transmission, dopaminergic (GO:0032225)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydroxyacylglutathione hydrolase activity (GO:0004416)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10		Renal(207;0.0474)		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCACCCGTAGGGCCATCGGCT	0.587											OREG0015199	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													68.0	73.0	71.0					2																	219137293		2095	4229	6324	-	-	-	SO:0001627	intron_variant	0				CCDS2411.1, CCDS2413.1, CCDS42816.1	2q35	2011-01-21	2007-07-12		ENSG00000127838	ENSG00000127838			9153	protein-coding gene	gene with protein product	"""myofibrillogenesis regulator 1"""	609023	"""paroxysmal nonkinesiogenic dyskinesia"""			8659518	Standard	NM_015488		Approved	DYT8, PDC, DKFZp564N1362, FPD1, MR-1, BRP17, FKSG19, TAHCCP2, KIAA1184, KIPP1184, MGC31943, PKND1	uc002vhn.3	Q8N490	OTTHUMG00000133110	ENST00000273077.4:c.236+1021G>T	2.37:g.219137293G>T		Somatic	2256	WXS	Illumina GAIIx	Phase_IV	A8K1F2|Q96A48|Q9BU26|Q9NSX4|Q9ULN6|Q9Y4T1	Missense_Mutation	SNP	NULL	p.W79C	ENST00000273077.4	37	c.237	CCDS2411.1	2	.	.	.	.	.	.	.	.	.	.	G	19.05	3.751179	0.69533	.	.	ENSG00000127838	ENST00000248451	D	0.96651	-4.08	5.19	4.31	0.51392	.	.	.	.	.	D	0.95802	0.8634	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94642	0.7831	8	.	.	.	.	13.5541	0.61749	0.0752:0.0:0.9248:0.0	.	79	Q8N490-2	.	C	79	ENSP00000248451:W79C	.	W	+	3	0	PNKD	218845537	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	8.087000	0.89521	1.175000	0.42826	0.561000	0.74099	TGG	PNKD	-	NULL	ENSG00000127838		0.587	PNKD-001	KNOWN	basic|CCDS	protein_coding	PNKD	HGNC	protein_coding	OTTHUMT00000256775.2	43	0.00	0	G			219137293	219137293	+1	no_errors	ENST00000248451	ensembl	human	known	69_37n	missense	50	24.24	16	SNP	1.000	T
PNLDC1	154197	genome.wustl.edu	37	6	160240034	160240034	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:160240034C>T	ENST00000610273.1	+	17	1452	c.1281C>T	c.(1279-1281)gtC>gtT	p.V427V	PNLDC1_ENST00000392167.3_Silent_p.V438V	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	427						integral component of membrane (GO:0016021)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TCCTCAGCGTCAAAAGGTGGC	0.468																																						dbGAP											0													102.0	105.0	104.0					6																	160240034		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK097559	CCDS5271.1, CCDS5271.2, CCDS64561.1	6q25.3	2008-02-05			ENSG00000146453	ENSG00000146453			21185	protein-coding gene	gene with protein product							Standard	NM_001271862		Approved	FLJ40240, dJ195P10.2	uc003qsy.2	Q8NA58	OTTHUMG00000015941	ENST00000610273.1:c.1281C>T	6.37:g.160240034C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TAP7|Q8N7X5	Silent	SNP	pfam_RNase_CAF1,superfamily_RNaseH-like_dom	p.V427	ENST00000610273.1	37	c.1281	CCDS5271.1	6																																																																																			PNLDC1	-	NULL	ENSG00000146453		0.468	PNLDC1-201	KNOWN	basic|CCDS	protein_coding	PNLDC1	HGNC	protein_coding		85	0.00	0	C	NM_173516		160240034	160240034	+1	no_errors	ENST00000275275	ensembl	human	known	69_37n	silent	54	26.03	19	SNP	0.000	T
PNLDC1	154197	genome.wustl.edu	37	6	160240301	160240301	+	Silent	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:160240301G>T	ENST00000610273.1	+	18	1587	c.1416G>T	c.(1414-1416)ctG>ctT	p.L472L	PNLDC1_ENST00000392167.3_Silent_p.L483L	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	472						integral component of membrane (GO:0016021)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		GGAACATCCTGAAGGAGTACC	0.597																																						dbGAP											0													107.0	81.0	90.0					6																	160240301		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK097559	CCDS5271.1, CCDS5271.2, CCDS64561.1	6q25.3	2008-02-05			ENSG00000146453	ENSG00000146453			21185	protein-coding gene	gene with protein product							Standard	NM_001271862		Approved	FLJ40240, dJ195P10.2	uc003qsy.2	Q8NA58	OTTHUMG00000015941	ENST00000610273.1:c.1416G>T	6.37:g.160240301G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TAP7|Q8N7X5	Silent	SNP	pfam_RNase_CAF1,superfamily_RNaseH-like_dom	p.L472	ENST00000610273.1	37	c.1416	CCDS5271.1	6																																																																																			PNLDC1	-	NULL	ENSG00000146453		0.597	PNLDC1-201	KNOWN	basic|CCDS	protein_coding	PNLDC1	HGNC	protein_coding		51	0.00	0	G	NM_173516		160240301	160240301	+1	no_errors	ENST00000275275	ensembl	human	known	69_37n	silent	25	40.48	17	SNP	0.975	T
PNN	5411	genome.wustl.edu	37	14	39645775	39645775	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:39645775G>C	ENST00000216832.4	+	3	297	c.230G>C	c.(229-231)aGa>aCa	p.R77T	RP11-407N17.4_ENST00000556537.1_lincRNA|PNN_ENST00000556530.1_Missense_Mutation_p.R77T|PNN_ENST00000553331.1_Missense_Mutation_p.R77T	NM_002687.3	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	77	Necessary for interaction with RNPS1.|Necessary for interactions with KRT8, KRT18 and KRT19.|Necessary for mediating alternative 5' splicing.				cell adhesion (GO:0007155)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		GCCAAACAGAGAGACCTTGAA	0.368																																						dbGAP											0													73.0	76.0	75.0					14																	39645775		2203	4300	6503	-	-	-	SO:0001583	missense	0			U77718	CCDS9671.1	14q21.1	2010-07-02			ENSG00000100941	ENSG00000100941			9162	protein-coding gene	gene with protein product		603154				8922384	Standard	NM_002687		Approved	memA	uc001wuw.4	Q9H307	OTTHUMG00000028821	ENST00000216832.4:c.230G>C	14.37:g.39645775G>C	ENSP00000216832:p.Arg77Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZX8|O60899|Q53EM7|Q6P5X4|Q7KYL1|Q99738|Q9UHZ9|Q9UQR9	Missense_Mutation	SNP	pfam_Pinin_SDK_N,pfam_Pinin_SDK_MemA	p.R77T	ENST00000216832.4	37	c.230	CCDS9671.1	14	.	.	.	.	.	.	.	.	.	.	G	26.9	4.781249	0.90282	.	.	ENSG00000100941	ENST00000553331;ENST00000216832;ENST00000556530	T	0.36699	1.24	5.61	5.61	0.85477	Pinin/SDK (2);	0.000000	0.85682	D	0.000000	T	0.56819	0.2011	L	0.59436	1.845	0.80722	D	1	D	0.63046	0.992	P	0.62885	0.908	T	0.57487	-0.7803	10	0.72032	D	0.01	-14.2902	19.2382	0.93871	0.0:0.0:1.0:0.0	.	77	Q9H307	PININ_HUMAN	T	77	ENSP00000216832:R77T	ENSP00000216832:R77T	R	+	2	0	PNN	38715526	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.582000	0.90791	2.624000	0.88883	0.655000	0.94253	AGA	PNN	-	pfam_Pinin_SDK_N	ENSG00000100941		0.368	PNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNN	HGNC	protein_coding	OTTHUMT00000276776.2	150	0.00	0	G	NM_002687		39645775	39645775	+1	no_errors	ENST00000216832	ensembl	human	known	69_37n	missense	82	26.13	29	SNP	1.000	C
PNO1	56902	genome.wustl.edu	37	2	68401923	68401923	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:68401923G>T	ENST00000263657.2	+	7	839	c.748G>T	c.(748-750)Gat>Tat	p.D250Y	RP11-474G23.1_ENST00000406334.3_Intron	NM_020143.2	NP_064528.1	Q9NRX1	PNO1_HUMAN	partner of NOB1 homolog (S. cerevisiae)	250						nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(2)	4						CAGATCAGCAGATCGATTCTG	0.388																																					NSCLC(83;642 1410 13044 32832 40058)	dbGAP											0													107.0	103.0	104.0					2																	68401923		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF164799	CCDS1885.1	2p14	2010-07-06			ENSG00000115946	ENSG00000115946			32790	protein-coding gene	gene with protein product	"""RNA binding protein"""		"""KH-type RNA binding protein 1"", ""KH-type RNA-binding protein 1"""	KHRBP1		15497447	Standard	NM_020143		Approved	RRP20	uc002seh.3	Q9NRX1	OTTHUMG00000129563	ENST00000263657.2:c.748G>T	2.37:g.68401923G>T	ENSP00000263657:p.Asp250Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6Q0|Q53G13|Q8WVB8	Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom	p.D250Y	ENST00000263657.2	37	c.748	CCDS1885.1	2	.	.	.	.	.	.	.	.	.	.	G	28.9	4.956176	0.92726	.	.	ENSG00000115946	ENST00000263657	T	0.42900	0.96	5.93	5.93	0.95920	.	0.142140	0.64402	D	0.000004	T	0.49287	0.1548	L	0.38175	1.15	0.58432	D	0.999999	P	0.50819	0.939	P	0.52554	0.702	T	0.46721	-0.9171	10	0.87932	D	0	-11.8947	18.5344	0.91004	0.0:0.0:1.0:0.0	.	250	Q9NRX1	PNO1_HUMAN	Y	250	ENSP00000263657:D250Y	ENSP00000263657:D250Y	D	+	1	0	PNO1	68255427	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.651000	0.74372	2.826000	0.97356	0.655000	0.94253	GAT	PNO1	-	NULL	ENSG00000115946		0.388	PNO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNO1	HGNC	protein_coding	OTTHUMT00000251756.1	163	0.00	0	G	NM_020143		68401923	68401923	+1	no_errors	ENST00000263657	ensembl	human	known	69_37n	missense	116	20.55	30	SNP	1.000	T
PNPLA6	10908	genome.wustl.edu	37	19	7625554	7625554	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:7625554G>A	ENST00000221249.6	+	32	4037	c.3606G>A	c.(3604-3606)ggG>ggA	p.G1202G	PNPLA6_ENST00000545201.2_Silent_p.G1175G|PNPLA6_ENST00000450331.3_Silent_p.G1202G|PNPLA6_ENST00000414982.3_Silent_p.G1250G|PNPLA6_ENST00000600737.1_Silent_p.G1240G	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	1241					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						ACCAGTACGGGAAGGCGGTGT	0.582																																						dbGAP											0													78.0	62.0	67.0					19																	7625554		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"""Patatin-like phospholipase domain containing"""	16268	protein-coding gene	gene with protein product	"""neuropathy target esterase"""	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.3606G>A	19.37:g.7625554G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Silent	SNP	pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.G1250	ENST00000221249.6	37	c.3750	CCDS32891.1	19																																																																																			PNPLA6	-	NULL	ENSG00000032444		0.582	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	PNPLA6	HGNC	protein_coding	OTTHUMT00000459275.1	44	0.00	0	G	NM_006702		7625554	7625554	+1	no_errors	ENST00000414982	ensembl	human	known	69_37n	silent	19	26.92	7	SNP	1.000	A
PNPT1	87178	genome.wustl.edu	37	2	55906821	55906821	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:55906821C>G	ENST00000447944.2	-	8	761	c.675G>C	c.(673-675)caG>caC	p.Q225H		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	225					cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA polyadenylation (GO:0097222)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA 5'-end processing (GO:0000964)|mitochondrial RNA catabolic process (GO:0000957)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle arrest (GO:0071850)|mRNA catabolic process (GO:0006402)|negative regulation of growth (GO:0045926)|nuclear polyadenylation-dependent mRNA catabolic process (GO:0071042)|positive regulation of miRNA catabolic process (GO:2000627)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|positive regulation of mRNA catabolic process (GO:0061014)|protein homooligomerization (GO:0051260)|protein homotrimerization (GO:0070207)|regulation of cellular respiration (GO:0043457)|regulation of cellular senescence (GO:2000772)|RNA catabolic process (GO:0006401)|RNA import into mitochondrion (GO:0035927)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA polyadenylation (GO:0043631)|rRNA import into mitochondrion (GO:0035928)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrial degradosome (GO:0045025)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	3'-5'-exoribonuclease activity (GO:0000175)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|polyribonucleotide nucleotidyltransferase activity (GO:0004654)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ACTTACCAATCTGACTTTTAG	0.323																																						dbGAP											0													94.0	93.0	93.0					2																	55906821		2201	4298	6499	-	-	-	SO:0001583	missense	0			BC053660	CCDS1856.1	2p15	2013-01-08			ENSG00000138035	ENSG00000138035			23166	protein-coding gene	gene with protein product	"""polynucleotide phosphorylase"", ""3'-5' RNA exonuclease"""	610316	"""deafness, autosomal recessive 70"""	DFNB70		12419256	Standard	NM_033109		Approved	PNPase, OLD35, old-35	uc002rzf.3	Q8TCS8	OTTHUMG00000129335	ENST00000447944.2:c.675G>C	2.37:g.55906821C>G	ENSP00000400646:p.Gln225His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53SU0|Q68CN1|Q7Z7D1|Q8IWX1|Q96T05|Q9BRU3|Q9BVX0	Missense_Mutation	SNP	pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,pfam_PNPase_PH_RNA-bd_bac/org-type,pfam_KH_dom_type_1,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2,superfamily_PNPase_PH_RNA-bd_bac/org-type,superfamily_NA-bd_OB-fold-like,smart_KH_dom,smart_RNA-binding_domain_S1,pirsf_PNPase,pfscan_KH_dom_type_1,pfscan_Rbsml_prot_S1_RNA-bd_dom,tigrfam_PNPase	p.Q225H	ENST00000447944.2	37	c.675	CCDS1856.1	2	.	.	.	.	.	.	.	.	.	.	C	7.814	0.716369	0.15306	.	.	ENSG00000138035	ENST00000447944	T	0.42131	0.98	4.78	1.62	0.23740	Exoribonuclease, phosphorolytic domain 2 (2);	0.000000	0.85682	D	0.000000	T	0.33702	0.0872	L	0.48642	1.525	0.47308	D	0.999387	B	0.12630	0.006	B	0.17979	0.02	T	0.13575	-1.0504	10	0.87932	D	0	-8.8312	8.4879	0.33082	0.0:0.5544:0.0:0.4456	.	225	Q8TCS8	PNPT1_HUMAN	H	225	ENSP00000400646:Q225H	ENSP00000386075:Q225H	Q	-	3	2	PNPT1	55760325	0.998000	0.40836	1.000000	0.80357	0.988000	0.76386	0.502000	0.22594	0.083000	0.17047	0.549000	0.68633	CAG	PNPT1	-	pfam_ExoRNase_PH_dom2,superfamily_ExoRNase_PH_dom2,pirsf_PNPase,tigrfam_PNPase	ENSG00000138035		0.323	PNPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNPT1	HGNC	protein_coding	OTTHUMT00000251481.2	92	0.00	0	C	NM_033109		55906821	55906821	-1	no_errors	ENST00000415374	ensembl	human	known	69_37n	missense	102	21.54	28	SNP	1.000	G
POC1B	282809	genome.wustl.edu	37	12	89818982	89818982	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:89818982C>T	ENST00000313546.3	-	11	1416	c.1288G>A	c.(1288-1290)Gat>Aat	p.D430N	POC1B_ENST00000541909.1_3'UTR|POC1B_ENST00000549035.1_Missense_Mutation_p.D388N|POC1B_ENST00000378528.2_3'UTR|POC1B_ENST00000393179.4_Missense_Mutation_p.D300N|POC1B_ENST00000546740.1_5'UTR	NM_172240.2	NP_758440.1	Q8TC44	POC1B_HUMAN	POC1 centriolar protein B	430					cell proliferation (GO:0008283)|cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						TCTAAAGCATCAGTCACAGCG	0.428																																						dbGAP											0													244.0	190.0	208.0					12																	89818982		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL832918	CCDS31869.1, CCDS55859.1	12q21.33	2014-05-02	2013-08-21	2010-03-26	ENSG00000139323	ENSG00000139323		"""WD repeat domain containing"""	30836	protein-coding gene	gene with protein product		614784	"""WD repeat domain 51B"", ""POC1 centriolar protein homolog B (Chlamydomonas)"""	WDR51B		19109428	Standard	NM_172240		Approved	TUWD12, FLJ14923		Q8TC44	OTTHUMG00000169944	ENST00000313546.3:c.1288G>A	12.37:g.89818982C>T	ENSP00000323302:p.Asp430Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	G3V1X0	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_TIF2A_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D430N	ENST00000313546.3	37	c.1288	CCDS31869.1	12	.	.	.	.	.	.	.	.	.	.	C	0.283	-0.985112	0.02180	.	.	ENSG00000139323	ENST00000393179;ENST00000313546;ENST00000549035	T;T;T	0.46819	0.86;0.86;0.86	5.8	3.97	0.46021	.	0.685825	0.14984	N	0.287069	T	0.27594	0.0678	N	0.17474	0.49	0.20873	N	0.99984	B	0.09022	0.002	B	0.04013	0.001	T	0.16247	-1.0409	10	0.14656	T	0.56	.	7.9053	0.29759	0.0:0.8189:0.0:0.1811	.	430	Q8TC44	POC1B_HUMAN	N	300;430;388	ENSP00000376877:D300N;ENSP00000323302:D430N;ENSP00000447916:D388N	ENSP00000323302:D430N	D	-	1	0	POC1B	88343113	0.214000	0.23563	0.028000	0.17463	0.129000	0.20672	1.847000	0.39299	1.438000	0.47492	0.563000	0.77884	GAT	POC1B	-	NULL	ENSG00000139323		0.428	POC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POC1B	HGNC	protein_coding	OTTHUMT00000406637.1	117	0.00	0	C	NM_172240		89818982	89818982	-1	no_errors	ENST00000313546	ensembl	human	known	69_37n	missense	102	25.55	35	SNP	0.015	T
POC1B	282809	genome.wustl.edu	37	12	89864264	89864264	+	Silent	SNP	G	G	A	rs185311452	byFrequency	TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:89864264G>A	ENST00000313546.3	-	7	812	c.684C>T	c.(682-684)agC>agT	p.S228S	POC1B_ENST00000541909.1_Silent_p.S98S|POC1B_ENST00000549035.1_Silent_p.S186S|POC1B_ENST00000378528.2_Intron|POC1B_ENST00000393179.4_Silent_p.S98S|POC1B_ENST00000549504.1_Intron	NM_172240.2	NP_758440.1	Q8TC44	POC1B_HUMAN	POC1 centriolar protein B	228					cell proliferation (GO:0008283)|cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						TAACTCCACCGCTGTGAACTG	0.388													G|||	4	0.000798722	0.0	0.0	5008	,	,		12769	0.004		0.0	False		,,,				2504	0.0					dbGAP											0													106.0	105.0	105.0					12																	89864264		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL832918	CCDS31869.1, CCDS55859.1	12q21.33	2014-05-02	2013-08-21	2010-03-26	ENSG00000139323	ENSG00000139323		"""WD repeat domain containing"""	30836	protein-coding gene	gene with protein product		614784	"""WD repeat domain 51B"", ""POC1 centriolar protein homolog B (Chlamydomonas)"""	WDR51B		19109428	Standard	NM_172240		Approved	TUWD12, FLJ14923		Q8TC44	OTTHUMG00000169944	ENST00000313546.3:c.684C>T	12.37:g.89864264G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	G3V1X0	Silent	SNP	pfam_WD40_repeat,pfam_TIF2A_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S228	ENST00000313546.3	37	c.684	CCDS31869.1	12																																																																																			POC1B	-	pfam_WD40_repeat,pfam_TIF2A_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000139323		0.388	POC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POC1B	HGNC	protein_coding	OTTHUMT00000406637.1	77	0.00	0	G	NM_172240		89864264	89864264	-1	no_errors	ENST00000313546	ensembl	human	known	69_37n	silent	62	28.74	25	SNP	0.955	A
PODXL2	50512	genome.wustl.edu	37	3	127358154	127358154	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:127358154C>T	ENST00000342480.6	+	2	176	c.137C>T	c.(136-138)tCc>tTc	p.S46F		NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	46					leukocyte tethering or rolling (GO:0050901)	integral component of plasma membrane (GO:0005887)	glycosaminoglycan binding (GO:0005539)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						ACCTCCACCTCCCTGCTAGAC	0.642																																						dbGAP											0													56.0	52.0	53.0					3																	127358154		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF219137	CCDS3044.1	3q21.3	2005-02-18			ENSG00000114631	ENSG00000114631			17936	protein-coding gene	gene with protein product	"""endoglycan"""					10722749	Standard	NM_015720		Approved	PODLX2, endoglycan	uc003ejq.3	Q9NZ53	OTTHUMG00000159642	ENST00000342480.6:c.137C>T	3.37:g.127358154C>T	ENSP00000345359:p.Ser46Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UVY4|Q8WUV6	Missense_Mutation	SNP	pfam_CD34/Podocalyxin	p.S46F	ENST00000342480.6	37	c.137	CCDS3044.1	3	.	.	.	.	.	.	.	.	.	.	C	25.4	4.635188	0.87760	.	.	ENSG00000114631	ENST00000342480;ENST00000302192	T	0.49432	0.78	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000007	T	0.62429	0.2427	L	0.34521	1.04	0.41619	D	0.988958	D	0.76494	0.999	D	0.85130	0.997	T	0.63014	-0.6731	10	0.87932	D	0	-24.7997	20.6525	0.99598	0.0:1.0:0.0:0.0	.	46	Q9NZ53	PDXL2_HUMAN	F	46	ENSP00000345359:S46F	ENSP00000304498:S46F	S	+	2	0	PODXL2	128840844	1.000000	0.71417	0.994000	0.49952	0.970000	0.65996	5.065000	0.64344	2.890000	0.99128	0.585000	0.79938	TCC	PODXL2	-	NULL	ENSG00000114631		0.642	PODXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PODXL2	HGNC	protein_coding	OTTHUMT00000356638.1	63	0.00	0	C	NM_015720		127358154	127358154	+1	no_errors	ENST00000342480	ensembl	human	known	69_37n	missense	92	13.21	14	SNP	0.999	T
PODXL2	50512	genome.wustl.edu	37	3	127379391	127379391	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:127379391G>T	ENST00000342480.6	+	3	559	c.520G>T	c.(520-522)Gag>Tag	p.E174*		NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	174	Glu-rich.				leukocyte tethering or rolling (GO:0050901)	integral component of plasma membrane (GO:0005887)	glycosaminoglycan binding (GO:0005539)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						ggaggagagggagaaggaaga	0.542																																						dbGAP											0													62.0	67.0	65.0					3																	127379391		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF219137	CCDS3044.1	3q21.3	2005-02-18			ENSG00000114631	ENSG00000114631			17936	protein-coding gene	gene with protein product	"""endoglycan"""					10722749	Standard	NM_015720		Approved	PODLX2, endoglycan	uc003ejq.3	Q9NZ53	OTTHUMG00000159642	ENST00000342480.6:c.520G>T	3.37:g.127379391G>T	ENSP00000345359:p.Glu174*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UVY4|Q8WUV6	Nonsense_Mutation	SNP	pfam_CD34/Podocalyxin	p.E174*	ENST00000342480.6	37	c.520	CCDS3044.1	3	.	.	.	.	.	.	.	.	.	.	G	22.7	4.328163	0.81690	.	.	ENSG00000114631	ENST00000342480;ENST00000302192	.	.	.	3.48	3.48	0.39840	.	0.187259	0.25146	U	0.032785	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-1.7986	10.6565	0.45678	0.0:0.0:1.0:0.0	.	.	.	.	X	174	.	ENSP00000304498:E174X	E	+	1	0	PODXL2	128862081	0.993000	0.37304	0.940000	0.37924	0.904000	0.53231	2.825000	0.48096	1.947000	0.56498	0.491000	0.48974	GAG	PODXL2	-	NULL	ENSG00000114631		0.542	PODXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PODXL2	HGNC	protein_coding	OTTHUMT00000356638.1	60	0.00	0	G	NM_015720		127379391	127379391	+1	no_errors	ENST00000342480	ensembl	human	known	69_37n	nonsense	75	13.79	12	SNP	0.821	T
POFUT1	23509	genome.wustl.edu	37	20	30795824	30795824	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:30795824G>A	ENST00000375749.3	+	1	142	c.80G>A	c.(79-81)gGc>gAc	p.G27D	POFUT1_ENST00000539210.1_5'UTR|POFUT1_ENST00000486717.1_3'UTR|PLAGL2_ENST00000246229.4_5'Flank|POFUT1_ENST00000375730.3_Missense_Mutation_p.G27D	NM_015352.1	NP_056167.1	Q9H488	OFUT1_HUMAN	protein O-fucosyltransferase 1	27					angiogenesis (GO:0001525)|embryo development (GO:0009790)|fucose metabolic process (GO:0006004)|heart development (GO:0007507)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|O-glycan processing (GO:0016266)|protein O-linked fucosylation (GO:0036066)|protein O-linked glycosylation (GO:0006493)|regulation of transcription, DNA-templated (GO:0006355)|somitogenesis (GO:0001756)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	fucosyltransferase activity (GO:0008417)|peptide-O-fucosyltransferase activity (GO:0046922)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	6			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ATGCCTGCGGGCTCCTGGGAC	0.687																																						dbGAP											0													6.0	9.0	8.0					20																	30795824		2141	4216	6357	-	-	-	SO:0001583	missense	0			AF375884	CCDS13198.1, CCDS13199.1	20q11	2013-03-06			ENSG00000101346	ENSG00000101346	2.4.1.221	"""Fucosyltransferases"""	14988	protein-coding gene	gene with protein product	"""peptide-O-fucosyltransferase"", ""GDP-fucose protein O-fucosyltransferase 1"""	607491				9023546, 9525914	Standard	NM_015352		Approved	O-FUT, O-Fuc-T, KIAA0180, FUT12	uc002wxp.3	Q9H488	OTTHUMG00000133268	ENST00000375749.3:c.80G>A	20.37:g.30795824G>A	ENSP00000364902:p.Gly27Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4R8|E1P5M4|Q14685|Q5W185|Q9BW76	Missense_Mutation	SNP	pfam_GDP-Fuc_O-FucTrfase	p.G27D	ENST00000375749.3	37	c.80	CCDS13198.1	20	.	.	.	.	.	.	.	.	.	.	G	11.34	1.609113	0.28623	.	.	ENSG00000101346	ENST00000375749;ENST00000375730	T	0.29397	1.57	4.63	1.39	0.22231	.	0.547731	0.18978	N	0.125955	T	0.15869	0.0382	N	0.19112	0.55	0.35897	D	0.830077	B;B	0.18166	0.026;0.001	B;B	0.22880	0.042;0.001	T	0.10451	-1.0629	10	0.32370	T	0.25	-19.1511	4.3055	0.10944	0.1282:0.2352:0.5125:0.1241	.	27;27	Q9H488;Q9H488-2	OFUT1_HUMAN;.	D	27	ENSP00000364902:G27D	ENSP00000364882:G27D	G	+	2	0	POFUT1	30259485	0.189000	0.23263	0.689000	0.30133	0.343000	0.28985	0.759000	0.26461	1.123000	0.41961	0.655000	0.94253	GGC	POFUT1	-	NULL	ENSG00000101346		0.687	POFUT1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	POFUT1	HGNC	protein_coding	OTTHUMT00000078613.1	12	0.00	0	G	NM_015352		30795824	30795824	+1	no_errors	ENST00000375749	ensembl	human	known	69_37n	missense	8	33.33	4	SNP	0.045	A
POFUT2	23275	genome.wustl.edu	37	21	46686137	46686137	+	Intron	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr21:46686137C>T	ENST00000349485.5	-	9	1163				POFUT2_ENST00000331343.7_3'UTR|POFUT2_ENST00000471540.1_5'UTR	NM_133635.4	NP_598368.2	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2						fucose metabolic process (GO:0006004)|mesoderm formation (GO:0001707)|protein O-linked fucosylation (GO:0036066)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of gene expression (GO:0010468)|regulation of secretion (GO:0051046)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	peptide-O-fucosyltransferase activity (GO:0046922)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		AGCGGCACTTCATGAACTTCG	0.602																																						dbGAP											0													96.0	93.0	94.0					21																	46686137		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AJ203079	CCDS13719.1, CCDS13721.1	21q22.3	2013-03-06	2004-06-07	2004-06-09	ENSG00000186866	ENSG00000186866	2.4.1.221	"""Fucosyltransferases"""	14683	protein-coding gene	gene with protein product	"""peptide-O-fucosyltransferase"", ""GDP-fucose protein O-fucosyltransferase 2"""	610249	"""chromosome 21 open reading frame 80"""	C21orf80			Standard	NM_133635		Approved	KIAA0958, FUT13	uc002zhc.3	Q9Y2G5	OTTHUMG00000084874	ENST00000349485.5:c.1137-587G>A	21.37:g.46686137C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6PJV1|Q7Z4N0|Q8WWU6|Q9BQS4|Q9BQS5|Q9UFY3	Silent	SNP	pfam_GDP-Fuc_O-FucTrfase,superfamily_DUF749	p.*381	ENST00000349485.5	37	c.1142	CCDS13719.1	21																																																																																			POFUT2	-	NULL	ENSG00000186866		0.602	POFUT2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	POFUT2	HGNC	protein_coding	OTTHUMT00000192573.2	35	0.00	0	C	NM_015227		46686137	46686137	-1	no_errors	ENST00000334538	ensembl	human	known	69_37n	silent	29	21.62	8	SNP	0.020	T
POLA1	5422	genome.wustl.edu	37	X	24839691	24839691	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:24839691C>T	ENST00000379059.3	+	31	3549	c.3534C>T	c.(3532-3534)gtC>gtT	p.V1178V	POLA1_ENST00000379068.3_Silent_p.V1184V	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	1178					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	TGTCATATGTCATCTGTCAGG	0.393																																						dbGAP											0													81.0	68.0	73.0					X																	24839691		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"""DNA polymerases"""	9173	protein-coding gene	gene with protein product		312040	"""polymerase (DNA directed), alpha"", ""polymerase (DNA directed), alpha 1"", ""N syndrome (mental retardation, malformations, chromosome breakage)"""	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.3534C>T	X.37:g.24839691C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86UQ7	Silent	SNP	pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_Znf_DNA-dir_DNA_pol_B_alpha,pfam_DNA_pol_a_cat_su_N,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2	p.V1184	ENST00000379059.3	37	c.3552	CCDS14214.1	X																																																																																			POLA1	-	pfam_DNA-dir_DNA_pol_B_multi_dom,tigrfam_DNA-dir_DNA_pol_B_pol2	ENSG00000101868		0.393	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	POLA1	HGNC	protein_coding	OTTHUMT00000056111.1	54	0.00	0	C	NM_016937		24839691	24839691	+1	no_errors	ENST00000379068	ensembl	human	known	69_37n	silent	60	21.05	16	SNP	1.000	T
POLA1	5422	genome.wustl.edu	37	X	24844657	24844657	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:24844657C>T	ENST00000379059.3	+	32	3672	c.3657C>T	c.(3655-3657)gtC>gtT	p.V1219V	POLA1_ENST00000379068.3_Silent_p.V1225V	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	1219					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	TCCACCCAGTCGTGGCTCGGA	0.517																																						dbGAP											0													132.0	81.0	98.0					X																	24844657		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"""DNA polymerases"""	9173	protein-coding gene	gene with protein product		312040	"""polymerase (DNA directed), alpha"", ""polymerase (DNA directed), alpha 1"", ""N syndrome (mental retardation, malformations, chromosome breakage)"""	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.3657C>T	X.37:g.24844657C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86UQ7	Silent	SNP	pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_Znf_DNA-dir_DNA_pol_B_alpha,pfam_DNA_pol_a_cat_su_N,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2	p.V1225	ENST00000379059.3	37	c.3675	CCDS14214.1	X																																																																																			POLA1	-	pfam_DNA-dir_DNA_pol_B_multi_dom,tigrfam_DNA-dir_DNA_pol_B_pol2	ENSG00000101868		0.517	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	POLA1	HGNC	protein_coding	OTTHUMT00000056111.1	95	0.00	0	C	NM_016937		24844657	24844657	+1	no_errors	ENST00000379068	ensembl	human	known	69_37n	silent	74	25.25	25	SNP	0.279	T
POLA2	23649	genome.wustl.edu	37	11	65034164	65034164	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:65034164C>G	ENST00000265465.3	+	2	722	c.191C>G	c.(190-192)tCt>tGt	p.S64C	POLA2_ENST00000541089.1_Intron	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	64					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein import into nucleus, translocation (GO:0000060)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|protein heterodimerization activity (GO:0046982)			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	ATCCTGAACTCTTTTGAGCAT	0.433																																						dbGAP											0													108.0	91.0	97.0					11																	65034164		2201	4297	6498	-	-	-	SO:0001583	missense	0			BC002990	CCDS8098.1	11q13	2012-05-18	2012-05-18		ENSG00000014138	ENSG00000014138		"""DNA polymerases"""	30073	protein-coding gene	gene with protein product	"""DNA polymerase alpha subunit B"", ""DNA polymerase alpha 70 kDa subunit"""		"""polymerase (DNA directed), alpha 2 (70kD subunit)"""			8223465, 11433027	Standard	NM_002689		Approved	FLJ21662	uc001odj.3	Q14181	OTTHUMG00000165951	ENST00000265465.3:c.191C>G	11.37:g.65034164C>G	ENSP00000265465:p.Ser64Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DNB4|Q9BPV3	Missense_Mutation	SNP	pfam_Pol_alpha_B_N,pfam_DNA_pol_alpha/epsilon_bsu,pirsf_DNA_pol_alpha_bsu	p.S64C	ENST00000265465.3	37	c.191	CCDS8098.1	11	.	.	.	.	.	.	.	.	.	.	C	25.2	4.618669	0.87460	.	.	ENSG00000014138	ENST00000265465;ENST00000532391	T	0.24723	1.84	5.24	4.33	0.51752	DNA polymerase alpha, subunit B N-terminal (1);	0.543088	0.19703	N	0.107987	T	0.40694	0.1127	L	0.60455	1.87	0.37760	D	0.92627	D;P	0.65815	0.995;0.941	P;P	0.62649	0.905;0.8	T	0.37033	-0.9723	10	0.56958	D	0.05	-9.404	8.7912	0.34852	0.0:0.9:0.0:0.1	.	24;64	E9PIQ6;Q14181	.;DPOA2_HUMAN	C	64;24	ENSP00000265465:S64C	ENSP00000265465:S64C	S	+	2	0	POLA2	64790740	0.085000	0.21516	0.560000	0.28344	0.995000	0.86356	2.114000	0.41911	2.436000	0.82500	0.563000	0.77884	TCT	POLA2	-	pfam_Pol_alpha_B_N,pirsf_DNA_pol_alpha_bsu	ENSG00000014138		0.433	POLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLA2	HGNC	protein_coding	OTTHUMT00000387223.1	95	0.00	0	C	NM_002689		65034164	65034164	+1	no_errors	ENST00000265465	ensembl	human	known	69_37n	missense	67	42.24	49	SNP	0.432	G
POLB	5423	genome.wustl.edu	37	8	42227455	42227455	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:42227455G>A	ENST00000265421.4	+	13	1032	c.862G>A	c.(862-864)Gaa>Aaa	p.E288K	POLB_ENST00000538005.1_Missense_Mutation_p.E134K|POLB_ENST00000521492.1_Missense_Mutation_p.E7K	NM_002690.2	NP_002681.1	P06746	DPOLB_HUMAN	polymerase (DNA directed), beta	288					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neuron apoptotic process (GO:0051402)|pyrimidine dimer repair (GO:0006290)|response to ethanol (GO:0045471)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|enzyme binding (GO:0019899)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)|microtubule binding (GO:0008017)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	16	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		Cytarabine(DB00987)	TCATGCCCTAGAAAAGGGTTT	0.413								DNA polymerases (catalytic subunits)																														dbGAP											0													105.0	100.0	102.0					8																	42227455		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6129.1	8p12-p11	2012-10-02			ENSG00000070501	ENSG00000070501	2.7.7.7	"""DNA polymerases"""	9174	protein-coding gene	gene with protein product		174760					Standard	NM_002690		Approved		uc003xoz.2	P06746	OTTHUMG00000164093	ENST00000265421.4:c.862G>A	8.37:g.42227455G>A	ENSP00000265421:p.Glu288Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RC78|Q3KP48|Q6FI34	Missense_Mutation	SNP	pfam_DNA_pol_lambd_fingers_domain,superfamily_DNA-dir_DNA_pol_X_beta-like_N,superfamily_DNA_pol_lambd_fingers_domain,smart_DNA-dir_DNA_pol_X,smart_Hlx-hairpin-Hlx_DNA-bd_motif,prints_DNA_pol_X_beta-like,prints_DNA_pol_X	p.E288K	ENST00000265421.4	37	c.862	CCDS6129.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.2|22.2	4.252576|4.252576	0.80135|0.80135	.|.	.|.	ENSG00000070501|ENSG00000070501	ENST00000265421;ENST00000538005;ENST00000521492|ENST00000521290	T;T;T|.	0.39592|.	1.07;1.07;1.07|.	5.09|5.09	5.09|5.09	0.68999|0.68999	DNA-directed DNA polymerase X (1);|.	0.049134|.	0.85682|.	D|.	0.000000|.	T|T	0.50480|0.50480	0.1618|0.1618	N|N	0.17345|0.17345	0.48|0.48	0.80722|0.80722	D|D	1|1	B;B|.	0.14805|.	0.003;0.011|.	B;B|.	0.10450|.	0.005;0.004|.	T|T	0.45366|0.45366	-0.9266|-0.9266	10|5	0.17832|.	T|.	0.49|.	-10.4085|-10.4085	16.3325|16.3325	0.83048|0.83048	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	288;288|.	Q53EV2;P06746|.	.;DPOLB_HUMAN|.	K|K	288;134;7|189	ENSP00000265421:E288K;ENSP00000440497:E134K;ENSP00000430831:E7K|.	ENSP00000265421:E288K|.	E|R	+|+	1|2	0|0	POLB|POLB	42346612|42346612	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	9.745000|9.745000	0.98856|0.98856	2.536000|2.536000	0.85505|0.85505	0.491000|0.491000	0.48974|0.48974	GAA|AGA	POLB	-	smart_DNA-dir_DNA_pol_X	ENSG00000070501		0.413	POLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLB	HGNC	protein_coding	OTTHUMT00000377242.1	87	0.00	0	G	NM_002690		42227455	42227455	+1	no_errors	ENST00000265421	ensembl	human	known	69_37n	missense	44	33.33	22	SNP	1.000	A
POLE2	5427	genome.wustl.edu	37	14	50117145	50117145	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:50117145G>C	ENST00000216367.5	-	17	1434	c.1335C>G	c.(1333-1335)atC>atG	p.I445M	POLE2_ENST00000554396.1_Missense_Mutation_p.I445M|POLE2_ENST00000556584.1_5'UTR|POLE2_ENST00000539565.2_Missense_Mutation_p.I419M	NM_002692.3	NP_002683.2	P56282	DPOE2_HUMAN	polymerase (DNA directed), epsilon 2, accessory subunit	445					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	epsilon DNA polymerase complex (GO:0008622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)	p.I445M(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10	all_epithelial(31;0.0021)|Breast(41;0.0124)				Cladribine(DB00242)	CTTGGGATAAGATAGTCTTTA	0.358																																						dbGAP											1	Substitution - Missense(1)	lung(1)											111.0	108.0	109.0					14																	50117145		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF025840	CCDS32073.1, CCDS55914.1, CCDS55915.1	14q21-q22	2012-05-18	2012-05-18		ENSG00000100479	ENSG00000100479		"""DNA polymerases"""	9178	protein-coding gene	gene with protein product	"""DNA polymerase epsilon subunit B"""	602670	"""polymerase (DNA directed), epsilon 2 (p59 subunit)"""			9405441, 9443964	Standard	NM_002692		Approved	DPE2	uc001wwu.3	P56282	OTTHUMG00000170813	ENST00000216367.5:c.1335C>G	14.37:g.50117145G>C	ENSP00000216367:p.Ile445Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV55|A4FU92|A4LBB7|A6NH58|B4DDE6|O43560	Missense_Mutation	SNP	pfam_DNA_pol_alpha/epsilon_bsu,pfam_DNA_pol_e_bsu_N,pirsf_DNA_pol_e_bsu	p.I445M	ENST00000216367.5	37	c.1335	CCDS32073.1	14	.	.	.	.	.	.	.	.	.	.	G	14.58	2.578567	0.46006	.	.	ENSG00000100479	ENST00000216367;ENST00000539565;ENST00000554396	T;T;T	0.38887	1.11;1.11;1.11	5.88	-2.08	0.07254	DNA polymerase alpha/epsilon, subunit B (1);	0.461581	0.26133	N	0.026148	T	0.46698	0.1406	M	0.71206	2.165	0.24328	N	0.995019	P;P;P	0.41546	0.754;0.563;0.563	P;P;P	0.54629	0.757;0.502;0.502	T	0.40440	-0.9563	10	0.56958	D	0.05	-1.5964	1.9754	0.03415	0.4071:0.1001:0.3152:0.1776	.	445;419;445	A4FU92;B4DDE6;P56282	.;.;DPOE2_HUMAN	M	445;419;445	ENSP00000216367:I445M;ENSP00000446313:I419M;ENSP00000451621:I445M	ENSP00000216367:I445M	I	-	3	3	POLE2	49186895	0.992000	0.36948	0.124000	0.21820	0.986000	0.74619	0.254000	0.18314	-0.102000	0.12197	-0.157000	0.13467	ATC	POLE2	-	pfam_DNA_pol_alpha/epsilon_bsu,pirsf_DNA_pol_e_bsu	ENSG00000100479		0.358	POLE2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	POLE2	HGNC	protein_coding	OTTHUMT00000410512.1	66	0.00	0	G	NM_002692		50117145	50117145	-1	no_errors	ENST00000216367	ensembl	human	known	69_37n	missense	35	50.00	35	SNP	0.003	C
POLG2	11232	genome.wustl.edu	37	17	62488822	62488822	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:62488822C>T	ENST00000539111.2	-	3	824	c.757G>A	c.(757-759)Gat>Aat	p.D253N		NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	polymerase (DNA directed), gamma 2, accessory subunit	253					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)	extracellular vesicular exosome (GO:0070062)|mitochondrial chromosome (GO:0000262)|mitochondrial nucleoid (GO:0042645)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			AACCAGAAATCAAGCCACTGG	0.368																																					Colon(3;18 21 435 17652 48887)	dbGAP											0													52.0	46.0	48.0					17																	62488822		2203	4300	6503	-	-	-	SO:0001583	missense	0			U94703	CCDS32706.1	17q23.3	2012-05-18			ENSG00000256525	ENSG00000256525		"""DNA polymerases"""	9180	protein-coding gene	gene with protein product		604983				9153213	Standard	NM_007215		Approved	MTPOLB, HP55	uc002jei.3	Q9UHN1		ENST00000539111.2:c.757G>A	17.37:g.62488822C>T	ENSP00000442563:p.Asp253Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O00419|Q0IJ81|Q96GW2|Q9UK35|Q9UK94	Missense_Mutation	SNP	pfam_Anticodon-bd,superfamily_Anticodon-bd	p.D253N	ENST00000539111.2	37	c.757	CCDS32706.1	17	.	.	.	.	.	.	.	.	.	.	C	32	5.113147	0.94339	.	.	ENSG00000256525	ENST00000539111	T	0.80214	-1.35	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.89955	0.6865	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.88465	0.3058	10	0.38643	T	0.18	-25.2166	19.6391	0.95749	0.0:1.0:0.0:0.0	.	253;253	E5KS15;Q9UHN1	.;DPOG2_HUMAN	N	253	ENSP00000442563:D253N	ENSP00000442563:D253N	D	-	1	0	POLG2	59919284	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.955000	0.76007	2.715000	0.92844	0.655000	0.94253	GAT	POLG2	-	NULL	ENSG00000256525		0.368	POLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLG2	HGNC	protein_coding	OTTHUMT00000443820.1	52	0.00	0	C	NM_007215		62488822	62488822	-1	no_errors	ENST00000539111	ensembl	human	known	69_37n	missense	54	21.43	15	SNP	1.000	T
POLM	27434	genome.wustl.edu	37	7	44112992	44112992	+	Intron	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:44112992G>A	ENST00000242248.5	-	11	1500				POLM_ENST00000335195.6_Intron|POLM_ENST00000492971.1_5'Flank|POLM_ENST00000395831.3_Missense_Mutation_p.S399F	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu						DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						ACAGAAGCAGGACTTCCGTGA	0.572								DNA polymerases (catalytic subunits)																														dbGAP											0													54.0	47.0	50.0					7																	44112992		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AF176097	CCDS34625.1, CCDS64635.1, CCDS64636.1	7p13	2012-05-18			ENSG00000122678	ENSG00000122678		"""DNA polymerases"""	9185	protein-coding gene	gene with protein product	"""Pol iota"""	606344				10982892	Standard	XM_005249708		Approved	Tdt-N	uc003tjt.3	Q9NP87	OTTHUMG00000155353	ENST00000242248.5:c.1399-16C>T	7.37:g.44112992G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DVK4|Q6P5X8|Q86WQ9	Missense_Mutation	SNP	superfamily_DNA-dir_DNA_pol_X_beta-like_N,superfamily_BRCT_dom,smart_DNA-dir_DNA_pol_X,pfscan_BRCT_dom,prints_DNA_nucleotidylexotransferase,prints_DNA_pol_X	p.S399F	ENST00000242248.5	37	c.1196	CCDS34625.1	7	.	.	.	.	.	.	.	.	.	.	G	14.77	2.633160	0.47049	.	.	ENSG00000122678	ENST00000395831	T	0.26810	1.71	4.09	-2.6	0.06190	.	.	.	.	.	T	0.15478	0.0373	.	.	.	0.09310	N	1	B	0.33135	0.399	B	0.33750	0.169	T	0.20338	-1.0278	8	0.72032	D	0.01	.	0.6673	0.00853	0.3739:0.2108:0.2563:0.159	.	399	Q86WQ9	.	F	399	ENSP00000379174:S399F	ENSP00000379174:S399F	S	-	2	0	POLM	44079517	0.002000	0.14202	0.000000	0.03702	0.018000	0.09664	-0.345000	0.07770	-1.243000	0.02519	0.505000	0.49811	TCC	POLM	-	NULL	ENSG00000122678		0.572	POLM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	POLM	HGNC	protein_coding	OTTHUMT00000339594.1	36	0.00	0	G	NM_013284		44112992	44112992	-1	no_errors	ENST00000395831	ensembl	human	novel	69_37n	missense	39	27.78	15	SNP	0.000	A
POLM	27434	genome.wustl.edu	37	7	44119319	44119319	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:44119319C>T	ENST00000242248.5	-	4	594	c.493G>A	c.(493-495)Gag>Aag	p.E165K	POLM_ENST00000335195.6_Missense_Mutation_p.E165K|POLM_ENST00000492971.1_5'Flank|POLM_ENST00000395831.3_Missense_Mutation_p.E165K	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	165					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						CCTGCTGCCTCGGCCAGTATC	0.647								DNA polymerases (catalytic subunits)																														dbGAP											0													37.0	40.0	39.0					7																	44119319		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF176097	CCDS34625.1, CCDS64635.1, CCDS64636.1	7p13	2012-05-18			ENSG00000122678	ENSG00000122678		"""DNA polymerases"""	9185	protein-coding gene	gene with protein product	"""Pol iota"""	606344				10982892	Standard	XM_005249708		Approved	Tdt-N	uc003tjt.3	Q9NP87	OTTHUMG00000155353	ENST00000242248.5:c.493G>A	7.37:g.44119319C>T	ENSP00000242248:p.Glu165Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DVK4|Q6P5X8|Q86WQ9	Missense_Mutation	SNP	pfam_DNA_pol_lambd_fingers_domain,superfamily_DNA-dir_DNA_pol_X_beta-like_N,superfamily_DNA_pol_lambd_fingers_domain,superfamily_BRCT_dom,smart_DNA-dir_DNA_pol_X,pirsf_DNA_nucleotidylexotransferase,pfscan_BRCT_dom,prints_DNA_nucleotidylexotransferase,prints_DNA_pol_X,prints_DNA_pol_X_beta-like	p.E165K	ENST00000242248.5	37	c.493	CCDS34625.1	7	.	.	.	.	.	.	.	.	.	.	C	22.1	4.250664	0.80135	.	.	ENSG00000122678	ENST00000335195;ENST00000242248;ENST00000395831;ENST00000414235	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.75	5.75	0.90469	DNA-directed DNA polymerase X (1);DNA-directed DNA polymerase, family X, beta-like, N-terminal (2);	0.154038	0.56097	D	0.000024	T	0.59555	0.2202	L	0.60957	1.885	0.48341	D	0.999632	P;D;P;D;D;D	0.89917	0.897;0.997;0.946;1.0;0.999;0.999	B;P;B;D;P;P	0.87578	0.341;0.471;0.423;0.998;0.893;0.812	T	0.51356	-0.8716	10	0.25106	T	0.35	-36.2438	15.4404	0.75178	0.0:1.0:0.0:0.0	.	132;165;165;165;165;165	B4DG75;Q6PIY2;Q9H980;Q86WQ9;Q6P5X8;Q9NP87	.;.;.;.;.;DPOLM_HUMAN	K	165;165;165;132	ENSP00000335141:E165K;ENSP00000242248:E165K;ENSP00000379174:E165K;ENSP00000390899:E132K	ENSP00000242248:E165K	E	-	1	0	POLM	44085844	1.000000	0.71417	0.955000	0.39395	0.411000	0.31082	5.471000	0.66762	2.725000	0.93324	0.655000	0.94253	GAG	POLM	-	superfamily_DNA-dir_DNA_pol_X_beta-like_N,smart_DNA-dir_DNA_pol_X,pirsf_DNA_nucleotidylexotransferase,prints_DNA_nucleotidylexotransferase	ENSG00000122678		0.647	POLM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	POLM	HGNC	protein_coding	OTTHUMT00000339594.1	23	0.00	0	C	NM_013284		44119319	44119319	-1	no_errors	ENST00000242248	ensembl	human	known	69_37n	missense	28	26.32	10	SNP	1.000	T
POLR1B	84172	genome.wustl.edu	37	2	113317069	113317069	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:113317069G>A	ENST00000263331.5	+	9	2110	c.1530G>A	c.(1528-1530)ctG>ctA	p.L510L	POLR1B_ENST00000417433.2_Silent_p.L454L|POLR1B_ENST00000541869.1_Silent_p.L548L|POLR1B_ENST00000409894.3_Intron|POLR1B_ENST00000537335.1_Silent_p.L299L	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	510					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						CCTGTGGCCTGATGAACCACC	0.527																																					Ovarian(16;256 576 9537 23969 41147)	dbGAP											0													121.0	108.0	112.0					2																	113317069		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK001678	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	2q13	2013-01-21			ENSG00000125630	ENSG00000125630		"""RNA polymerase subunits"""	20454	protein-coding gene	gene with protein product		602000					Standard	NM_001137604		Approved	Rpo1-2, FLJ21921, FLJ10816, RPA2	uc002thw.2	Q9H9Y6	OTTHUMG00000131314	ENST00000263331.5:c.1530G>A	2.37:g.113317069G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	Silent	SNP	pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpa2-specific,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_5	p.L548	ENST00000263331.5	37	c.1644	CCDS2097.1	2																																																																																			POLR1B	-	pfam_RNA_pol_Rpb2_3	ENSG00000125630		0.527	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1B	HGNC	protein_coding	OTTHUMT00000254083.1	79	0.00	0	G	NM_019014		113317069	113317069	+1	no_errors	ENST00000541869	ensembl	human	known	69_37n	silent	72	17.98	16	SNP	0.999	A
POLR2B	5431	genome.wustl.edu	37	4	57889525	57889525	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:57889525G>A	ENST00000381227.1	+	20	2958	c.2545G>A	c.(2545-2547)Gat>Aat	p.D849N	POLR2B_ENST00000441246.2_Missense_Mutation_p.D842N|POLR2B_ENST00000431623.2_Missense_Mutation_p.D774N|POLR2B_ENST00000314595.5_Missense_Mutation_p.D849N			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	849					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)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					CGACAAGCTGGATGATGATGG	0.413																																						dbGAP											0													92.0	84.0	86.0					4																	57889525		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"""RNA polymerase subunits"""	9188	protein-coding gene	gene with protein product		180661	"""polymerase (RNA) II (DNA directed) polypeptide B (140kD)"""			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.2545G>A	4.37:g.57889525G>A	ENSP00000370625:p.Asp849Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1A8|Q8IZ61	Missense_Mutation	SNP	pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_5	p.D849N	ENST00000381227.1	37	c.2545	CCDS3511.1	4	.	.	.	.	.	.	.	.	.	.	G	18.12	3.553062	0.65425	.	.	ENSG00000047315	ENST00000381227;ENST00000431623;ENST00000441246;ENST00000314595	D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73	5.52	4.67	0.58626	RNA polymerase Rpb2, OB-fold (1);DNA-directed RNA polymerase, subunit 2, domain 6 (1);	0.000000	0.85682	D	0.000000	D	0.92632	0.7659	M	0.90870	3.155	0.80722	D	1	D;D	0.67145	0.996;0.992	D;D	0.70016	0.967;0.967	D	0.94466	0.7680	10	0.87932	D	0	.	16.4926	0.84206	0.0:0.131:0.869:0.0	.	774;849	C9J4M6;P30876	.;RPB2_HUMAN	N	849;774;842;849	ENSP00000370625:D849N;ENSP00000391096:D774N;ENSP00000391452:D842N;ENSP00000312735:D849N	ENSP00000312735:D849N	D	+	1	0	POLR2B	57584282	1.000000	0.71417	1.000000	0.80357	0.140000	0.21249	9.657000	0.98554	1.550000	0.49438	-0.302000	0.09304	GAT	POLR2B	-	pfam_DNA-dir_RNA_pol_su2_6	ENSG00000047315		0.413	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2B	HGNC	protein_coding	OTTHUMT00000250692.1	74	0.00	0	G	NM_000938		57889525	57889525	+1	no_errors	ENST00000314595	ensembl	human	known	69_37n	missense	53	29.33	22	SNP	1.000	A
POLRMT	5442	genome.wustl.edu	37	19	618747	618747	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:618747C>A	ENST00000588649.2	-	16	3365	c.3281G>T	c.(3280-3282)gGa>gTa	p.G1094V	AC005559.2_ENST00000591847.1_RNA	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	1094	Mediates interaction with TEFM.				gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|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;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GCTCTGAATTCCACCTCCTAT	0.637																																						dbGAP											0													22.0	20.0	21.0					19																	618747		2186	4294	6480	-	-	-	SO:0001583	missense	0				CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.3281G>T	19.37:g.618747C>A	ENSP00000465759:p.Gly1094Val	Somatic		WXS	Illumina GAIIx	Phase_IV	O60370	Missense_Mutation	SNP	pfam_DNA-dir_Rpol_phage-type	p.G1109V	ENST00000588649.2	37	c.3326	CCDS12036.1	19	.	.	.	.	.	.	.	.	.	.	.	13.88	2.370335	0.42003	.	.	ENSG00000099821	ENST00000215591	T	0.39406	1.08	4.19	1.88	0.25563	.	0.876921	0.09821	N	0.751470	T	0.31827	0.0809	N	0.20685	0.6	0.22911	N	0.998578	P	0.43750	0.816	P	0.48488	0.579	T	0.14811	-1.0459	10	0.26408	T	0.33	-46.8064	5.4597	0.16610	0.0:0.6344:0.1931:0.1725	.	1094	O00411	RPOM_HUMAN	V	1094	ENSP00000215591:G1094V	ENSP00000215591:G1094V	G	-	2	0	POLRMT	569747	0.000000	0.05858	0.164000	0.22755	0.105000	0.19272	0.146000	0.16180	2.048000	0.60808	0.205000	0.17691	GGA	POLRMT	-	pfam_DNA-dir_Rpol_phage-type	ENSG00000099821		0.637	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	POLRMT	HGNC	protein_coding	OTTHUMT00000452172.3	36	0.00	0	C	NM_005035		618747	618747	-1	no_errors	ENST00000588649	ensembl	human	known	69_37n	missense	33	21.43	9	SNP	0.018	A
POMP	51371	genome.wustl.edu	37	13	29252209	29252209	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr13:29252209G>C	ENST00000380842.4	+	6	477	c.396G>C	c.(394-396)ttG>ttC	p.L132F	POMP_ENST00000460403.1_3'UTR	NM_015932.5	NP_057016.1	Q9Y244	POMP_HUMAN	proteasome maturation protein	132					proteasome assembly (GO:0043248)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				endometrium(2)|kidney(1)|large_intestine(1)	4		Lung SC(185;0.0367)		all cancers(112;0.141)|OV - Ovarian serous cystadenocarcinoma(117;0.216)		AGCCACACTTGATGGTGGAAT	0.358																																						dbGAP											0													239.0	216.0	224.0					13																	29252209		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF077200	CCDS9331.1	13q12.13	2013-11-11	2006-07-04	2006-07-04	ENSG00000132963	ENSG00000132963			20330	protein-coding gene	gene with protein product	"""proteassemblin"""	613386	"""chromosome 13 open reading frame 12"""	C13orf12		11042152	Standard	NM_015932		Approved	HSPC014, UMP1	uc001usf.3	Q9Y244	OTTHUMG00000016652	ENST00000380842.4:c.396G>C	13.37:g.29252209G>C	ENSP00000370222:p.Leu132Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A5HKJ2|D6MXU3|Q9HB69	Missense_Mutation	SNP	pfam_UMP1	p.L132F	ENST00000380842.4	37	c.396	CCDS9331.1	13	.	.	.	.	.	.	.	.	.	.	G	16.53	3.147900	0.57151	.	.	ENSG00000132963	ENST00000380842	.	.	.	5.7	3.93	0.45458	.	0.603318	0.17545	N	0.170378	T	0.57184	0.2036	L	0.47716	1.5	0.43824	D	0.996394	P	0.35714	0.517	B	0.44163	0.443	T	0.55496	-0.8132	9	0.56958	D	0.05	-0.0554	10.3578	0.43975	0.0743:0.1357:0.79:0.0	.	132	Q9Y244	POMP_HUMAN	F	132	.	ENSP00000370222:L132F	L	+	3	2	POMP	28150209	1.000000	0.71417	0.986000	0.45419	0.988000	0.76386	2.648000	0.46647	0.730000	0.32425	0.655000	0.94253	TTG	POMP	-	pfam_UMP1	ENSG00000132963		0.358	POMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POMP	HGNC	protein_coding	OTTHUMT00000044327.1	179	0.00	0	G	NM_015932		29252209	29252209	+1	no_errors	ENST00000380842	ensembl	human	known	69_37n	missense	128	17.95	28	SNP	0.996	C
POPDC2	64091	genome.wustl.edu	37	3	119367224	119367224	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:119367224G>A	ENST00000264231.3	-	3	1058	c.892C>T	c.(892-894)Cag>Tag	p.Q298*	POPDC2_ENST00000538678.1_Nonsense_Mutation_p.Q298*|POPDC2_ENST00000493094.1_Nonsense_Mutation_p.Q298*|POPDC2_ENST00000474523.1_5'UTR|POPDC2_ENST00000468801.1_Nonsense_Mutation_p.Q298*	NM_022135.2	NP_071418.2	Q9HBU9	POPD2_HUMAN	popeye domain containing 2	298					regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sinoatrial node cell development (GO:0060931)	integral component of membrane (GO:0016021)	cAMP binding (GO:0030552)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.242)		GGTGTGGCCTGAGGAGGGGAC	0.612																																						dbGAP											0													115.0	113.0	114.0					3																	119367224		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF204173	CCDS2992.1	3q13.33	2004-01-15			ENSG00000121577	ENSG00000121577			17648	protein-coding gene	gene with protein product		605823				10882522	Standard	NM_022135		Approved	POP2	uc031sbc.1	Q9HBU9	OTTHUMG00000159438	ENST00000264231.3:c.892C>T	3.37:g.119367224G>A	ENSP00000264231:p.Gln298*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86UE7	Nonsense_Mutation	SNP	pfam_Popeye_prot,superfamily_cNMP-bd-like	p.Q298*	ENST00000264231.3	37	c.892	CCDS2992.1	3	.	.	.	.	.	.	.	.	.	.	G	8.471	0.857548	0.17106	.	.	ENSG00000121577	ENST00000264231;ENST00000493094;ENST00000468801;ENST00000538678	.	.	.	4.83	4.83	0.62350	.	1.848780	0.02428	N	0.083227	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	9.1562	0.36994	0.0784:0.0:0.7738:0.1478	.	.	.	.	X	298	.	ENSP00000264231:Q298X	Q	-	1	0	POPDC2	120849914	0.088000	0.21588	0.053000	0.19242	0.027000	0.11550	0.563000	0.23547	2.495000	0.84180	0.462000	0.41574	CAG	POPDC2	-	NULL	ENSG00000121577		0.612	POPDC2-002	KNOWN	basic|CCDS	protein_coding	POPDC2	HGNC	protein_coding	OTTHUMT00000355378.1	134	0.00	0	G	NM_022135		119367224	119367224	-1	no_errors	ENST00000341124	ensembl	human	known	69_37n	nonsense	107	44.33	86	SNP	0.001	A
POTEG	404785	genome.wustl.edu	37	14	19571371	19571371	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:19571371G>C	ENST00000409832.3	+	7	1202	c.1150G>C	c.(1150-1152)Gag>Cag	p.E384Q		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	384										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GCTGACATCAGAGGAAGAGTC	0.308																																						dbGAP											0													18.0	20.0	20.0					14																	19571371		1940	3883	5823	-	-	-	SO:0001583	missense	0				CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.1150G>C	14.37:g.19571371G>C	ENSP00000386971:p.Glu384Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.E384Q	ENST00000409832.3	37	c.1150	CCDS32018.1	14	.	.	.	.	.	.	.	.	.	.	g	8.442	0.850964	0.17034	.	.	ENSG00000222036	ENST00000409832	T	0.28666	1.6	1.18	-0.925	0.10458	.	.	.	.	.	T	0.20495	0.0493	L	0.29908	0.895	0.09310	N	1	B	0.32573	0.376	B	0.36666	0.23	T	0.26018	-1.0115	9	0.56958	D	0.05	.	3.8855	0.09096	0.5102:0.0:0.4898:0.0	.	384	Q6S5H5	POTEG_HUMAN	Q	384	ENSP00000386971:E384Q	ENSP00000386971:E384Q	E	+	1	0	POTEG	18641371	0.001000	0.12720	0.125000	0.21846	0.548000	0.35241	-0.139000	0.10358	-0.339000	0.08401	0.184000	0.17185	GAG	POTEG	-	NULL	ENSG00000222036		0.308	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEG	HGNC	protein_coding	OTTHUMT00000408579.1	331	0.00	0	G	NM_001005356		19571371	19571371	+1	no_errors	ENST00000409832	ensembl	human	known	69_37n	missense	244	11.91	33	SNP	0.184	C
POTEH	23784	genome.wustl.edu	37	22	16267011	16267011	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:16267011C>T	ENST00000343518.6	-	9	1489	c.1438G>A	c.(1438-1440)Gat>Aat	p.D480N		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	480										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						AATCCATCATCACCATTGTCA	0.428																																						dbGAP											0													304.0	266.0	277.0					22																	16267011		692	1591	2283	-	-	-	SO:0001583	missense	0			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.1438G>A	22.37:g.16267011C>T	ENSP00000340610:p.Asp480Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.D480N	ENST00000343518.6	37	c.1438	CCDS46658.1	22	.	.	.	.	.	.	.	.	.	.	C	12.02	1.813407	0.32053	.	.	ENSG00000198062	ENST00000359587;ENST00000343518	T	0.26223	1.75	1.1	-1.17	0.09648	.	.	.	.	.	T	0.32224	0.0822	L	0.36672	1.1	0.09310	N	1	D;D	0.89917	1.0;0.958	D;P	0.87578	0.998;0.531	T	0.16217	-1.0410	9	0.48119	T	0.1	.	3.6862	0.08329	0.0:0.497:0.0:0.503	.	480;443	Q6S545;A6NKF6	POTEH_HUMAN;.	N	443;480	ENSP00000340610:D480N	ENSP00000340610:D480N	D	-	1	0	POTEH	14647011	0.000000	0.05858	0.001000	0.08648	0.161000	0.22273	0.134000	0.15932	-0.330000	0.08514	0.184000	0.17185	GAT	POTEH	-	NULL	ENSG00000198062		0.428	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	POTEH	HGNC	protein_coding	OTTHUMT00000276918.4	853	0.12	1	C	NM_001136213		16267011	16267011	-1	no_errors	ENST00000343518	ensembl	human	known	69_37n	missense	756	12.89	112	SNP	0.001	T
POU3F2	5454	genome.wustl.edu	37	6	99283859	99283859	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:99283859G>T	ENST00000328345.5	+	1	1280	c.1110G>T	c.(1108-1110)gaG>gaT	p.E370D		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	370					astrocyte development (GO:0014002)|cellular response to organic substance (GO:0071310)|cerebral cortex radially oriented cell migration (GO:0021799)|epidermis development (GO:0008544)|forebrain ventricular zone progenitor cell division (GO:0021869)|hypothalamus cell differentiation (GO:0021979)|myelination in peripheral nervous system (GO:0022011)|neurohypophysis development (GO:0021985)|neuron differentiation (GO:0030182)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of axonogenesis (GO:0050770)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	identical protein binding (GO:0042802)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		GGGCTCTGGAGAGCCATTTCC	0.602																																						dbGAP											0													61.0	69.0	66.0					6																	99283859		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z11933	CCDS5040.1	6q16.2	2011-06-20	2007-07-13		ENSG00000184486	ENSG00000184486		"""Homeoboxes / POU class"""	9215	protein-coding gene	gene with protein product		600494	"""POU domain class 3, transcription factor 2"""	OTF7		8441633	Standard	NM_005604		Approved	POUF3, BRN2, OCT7	uc003ppe.3	P20265	OTTHUMG00000015258	ENST00000328345.5:c.1110G>T	6.37:g.99283859G>T	ENSP00000329170:p.Glu370Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14960|Q86V54|Q9UJL0	Missense_Mutation	SNP	pirsf_Transcription_factor_POU,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.E370D	ENST00000328345.5	37	c.1110	CCDS5040.1	6	.	.	.	.	.	.	.	.	.	.	G	17.91	3.503973	0.64410	.	.	ENSG00000184486	ENST00000328345;ENST00000425116	D	0.97791	-4.54	4.66	3.7	0.42460	Homeodomain-related (1);Homeobox (3);POU (1);Homeodomain-like (1);	0.000000	0.64402	U	0.000003	D	0.98720	0.9570	H	0.95402	3.665	0.58432	D	0.999991	D	0.61697	0.99	D	0.68765	0.96	D	0.98860	1.0762	10	0.87932	D	0	.	7.9561	0.30045	0.1944:0.0:0.8056:0.0	.	370	P20265	PO3F2_HUMAN	D	370;303	ENSP00000329170:E370D	ENSP00000329170:E370D	E	+	3	2	POU3F2	99390580	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.964000	0.56780	2.407000	0.81776	0.555000	0.69702	GAG	POU3F2	-	pirsf_Transcription_factor_POU,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_POU	ENSG00000184486		0.602	POU3F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU3F2	HGNC	protein_coding	OTTHUMT00000041586.2	33	0.00	0	G			99283859	99283859	+1	no_errors	ENST00000328345	ensembl	human	known	69_37n	missense	29	34.09	15	SNP	1.000	T
POU5F2	134187	genome.wustl.edu	37	5	93076442	93076442	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:93076442C>G	ENST00000510627.4	-	1	901	c.828G>C	c.(826-828)gaG>gaC	p.E276D	FAM172A_ENST00000395965.3_Intron|RP11-185E12.2_ENST00000606528.1_RNA|FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000505869.1_Intron|FAM172A_ENST00000509739.1_Intron|POU5F2_ENST00000606183.1_5'UTR	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	276					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		TCCCCACAATCTCCCGTGGGG	0.577																																						dbGAP											0													37.0	41.0	40.0					5																	93076442		1972	4136	6108	-	-	-	SO:0001583	missense	0				CCDS59489.1	5q15	2011-06-20				ENSG00000248483		"""Homeoboxes / POU class"""	26367	protein-coding gene	gene with protein product						7908264	Standard	NM_153216		Approved	SPRM-1, FLJ25680	uc003kkl.1	Q8N7G0		ENST00000510627.4:c.828G>C	5.37:g.93076442C>G	ENSP00000464890:p.Glu276Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15169|Q6MZL7|Q8N748	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.E276D	ENST00000510627.4	37	c.828	CCDS59489.1	5																																																																																			POU5F2	-	superfamily_Homeodomain-like	ENSG00000248483		0.577	POU5F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU5F2	HGNC	protein_coding	OTTHUMT00000369873.5	51	0.00	0	C	NM_153216		93076442	93076442	-1	no_errors	ENST00000510627	ensembl	human	known	69_37n	missense	34	22.73	10	SNP	0.011	G
POU5F2	134187	genome.wustl.edu	37	5	93077087	93077087	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:93077087C>G	ENST00000510627.4	-	1	256	c.183G>C	c.(181-183)tgG>tgC	p.W61C	FAM172A_ENST00000395965.3_Intron|RP11-185E12.2_ENST00000606528.1_RNA|FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000505869.1_Intron|FAM172A_ENST00000509739.1_Intron|POU5F2_ENST00000606183.1_5'Flank	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	61					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		GGGGAATCCTCCACACGTCAG	0.672																																						dbGAP											0													17.0	20.0	19.0					5																	93077087		1926	4125	6051	-	-	-	SO:0001583	missense	0				CCDS59489.1	5q15	2011-06-20				ENSG00000248483		"""Homeoboxes / POU class"""	26367	protein-coding gene	gene with protein product						7908264	Standard	NM_153216		Approved	SPRM-1, FLJ25680	uc003kkl.1	Q8N7G0		ENST00000510627.4:c.183G>C	5.37:g.93077087C>G	ENSP00000464890:p.Trp61Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15169|Q6MZL7|Q8N748	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.W61C	ENST00000510627.4	37	c.183	CCDS59489.1	5																																																																																			POU5F2	-	NULL	ENSG00000248483		0.672	POU5F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU5F2	HGNC	protein_coding	OTTHUMT00000369873.5	19	0.00	0	C	NM_153216		93077087	93077087	-1	no_errors	ENST00000510627	ensembl	human	known	69_37n	missense	14	22.22	4	SNP	0.840	G
PPARA	5465	genome.wustl.edu	37	22	46628068	46628068	+	Missense_Mutation	SNP	A	A	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:46628068A>C	ENST00000396000.2	+	7	1356	c.1091A>C	c.(1090-1092)aAg>aCg	p.K364T	PPARA_ENST00000407236.1_Missense_Mutation_p.K364T|PPARA_ENST00000402126.1_Missense_Mutation_p.K364T|PPARA_ENST00000262735.5_Missense_Mutation_p.K364T|PPARA_ENST00000434345.2_3'UTR			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	364	Ligand-binding.|Required for heterodimerization with RXRA.				behavioral response to nicotine (GO:0035095)|cellular lipid metabolic process (GO:0044255)|circadian regulation of gene expression (GO:0032922)|enamel mineralization (GO:0070166)|epidermis development (GO:0008544)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|negative regulation of appetite (GO:0032099)|negative regulation of blood pressure (GO:0045776)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of glycolytic process (GO:0045820)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular ketone metabolic process by positive regulation of transcription from RNA polymerase II promoter (GO:0072366)|regulation of circadian rhythm (GO:0042752)|regulation of glycolytic by positive regulation of transcription from RNA polymerase II promoter (GO:0072363)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|lipid binding (GO:0008289)|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)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Indomethacin(DB00328)	TTTGCCATGAAGTTCAATGCA	0.418																																						dbGAP											0													260.0	231.0	241.0					22																	46628068		2203	4300	6503	-	-	-	SO:0001583	missense	0			L02932	CCDS33669.1	22q12-q13.1	2013-01-16	2006-10-17		ENSG00000186951	ENSG00000186951		"""Nuclear hormone receptors"""	9232	protein-coding gene	gene with protein product		170998	"""peroxisome proliferative activated receptor, alpha"""	PPAR		7684926, 10591208	Standard	XM_005261655		Approved	hPPAR, NR1C1	uc003bgx.1	Q07869	OTTHUMG00000150443	ENST00000396000.2:c.1091A>C	22.37:g.46628068A>C	ENSP00000379322:p.Lys364Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B0G0X3|Q16241|Q6I9S0|Q92486|Q92689|Q9Y3N1	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_1Cnucl_rcpt_A,prints_1Cnucl_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.K364T	ENST00000396000.2	37	c.1091	CCDS33669.1	22	.	.	.	.	.	.	.	.	.	.	A	18.80	3.700741	0.68501	.	.	ENSG00000186951	ENST00000396000;ENST00000262735;ENST00000535613;ENST00000407236;ENST00000402126	D;D;D;D	0.96830	-4.14;-4.14;-4.14;-4.14	5.48	5.48	0.80851	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.97748	0.9261	M	0.75264	2.295	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.72982	0.968;0.979	D	0.98556	1.0639	10	0.87932	D	0	.	14.7735	0.69699	1.0:0.0:0.0:0.0	.	145;364	F5H1U1;Q07869	.;PPARA_HUMAN	T	364;364;145;364;364	ENSP00000379322:K364T;ENSP00000262735:K364T;ENSP00000385523:K364T;ENSP00000385246:K364T	ENSP00000262735:K364T	K	+	2	0	PPARA	45006732	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.163000	0.64948	2.084000	0.62774	0.533000	0.62120	AAG	PPARA	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_1Cnucl_rcpt	ENSG00000186951		0.418	PPARA-202	KNOWN	basic|appris_principal|CCDS	protein_coding	PPARA	HGNC	protein_coding	OTTHUMT00000318129.3	182	0.00	0	A	NM_001001928		46628068	46628068	+1	no_errors	ENST00000262735	ensembl	human	known	69_37n	missense	239	12.77	35	SNP	1.000	C
PPARGC1A	10891	genome.wustl.edu	37	4	23797539	23797539	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:23797539G>C	ENST00000264867.2	-	13	2422	c.2303C>G	c.(2302-2304)tCa>tGa	p.S768*	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	768	Mediates interaction with RNF34. {ECO:0000269|PubMed:22064484}.				androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|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 stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				AAAGTCATCTGAGTTTGAATC	0.388																																					Esophageal Squamous(29;694 744 13796 34866 44181)	dbGAP											0													88.0	89.0	89.0					4																	23797539		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"""RNA binding motif (RRM) containing"""	9237	protein-coding gene	gene with protein product		604517	"""peroxisome proliferative activated receptor, gamma, coactivator 1"", ""peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"""	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.2303C>G	4.37:g.23797539G>C	ENSP00000264867:p.Ser768*	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Nonsense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S768*	ENST00000264867.2	37	c.2303	CCDS3429.1	4	.	.	.	.	.	.	.	.	.	.	G	38	7.161329	0.98103	.	.	ENSG00000109819	ENST00000264867	.	.	.	5.42	5.42	0.78866	.	0.069314	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-1.2318	19.5823	0.95473	0.0:0.0:1.0:0.0	.	.	.	.	X	768	.	ENSP00000264867:S768X	S	-	2	0	PPARGC1A	23406637	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.420000	0.97426	2.695000	0.91970	0.655000	0.94253	TCA	PPARGC1A	-	NULL	ENSG00000109819		0.388	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPARGC1A	HGNC	protein_coding	OTTHUMT00000214976.1	61	0.00	0	G	NM_013261		23797539	23797539	-1	no_errors	ENST00000264867	ensembl	human	known	69_37n	nonsense	52	24.64	17	SNP	1.000	C
PPARGC1B	133522	genome.wustl.edu	37	5	149206235	149206235	+	Splice_Site	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:149206235G>C	ENST00000309241.5	+	3	284		c.e3-1		PPARGC1B_ENST00000403750.1_Splice_Site|PPARGC1B_ENST00000360453.4_Splice_Site|PPARGC1B_ENST00000394320.3_Splice_Site	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta						actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CCTCACTCCAGATTGACAGTG	0.592																																						dbGAP											0													106.0	92.0	97.0					5																	149206235		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"""RNA binding motif (RRM) containing"""	30022	protein-coding gene	gene with protein product		608886	"""peroxisome proliferative activated receptor, gamma, coactivator 1, beta"""			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.253-1G>C	5.37:g.149206235G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Splice_Site	SNP	-	e3-1	ENST00000309241.5	37	c.253-1	CCDS4298.1	5	.	.	.	.	.	.	.	.	.	.	G	19.54	3.847386	0.71603	.	.	ENSG00000155846	ENST00000360453;ENST00000394320;ENST00000309241;ENST00000403750	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5021	0.87734	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PPARGC1B	149186428	1.000000	0.71417	0.999000	0.59377	0.749000	0.42624	8.027000	0.88791	2.573000	0.86826	0.655000	0.94253	.	PPARGC1B	-	-	ENSG00000155846		0.592	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPARGC1B	HGNC	protein_coding	OTTHUMT00000252334.1	11	0.00	0	G	NM_133263	Intron	149206235	149206235	+1	no_errors	ENST00000309241	ensembl	human	known	69_37n	splice_site	21	36.36	12	SNP	1.000	C
PPEF1	5475	genome.wustl.edu	37	X	18822166	18822166	+	Missense_Mutation	SNP	G	G	A	rs199621863		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:18822166G>A	ENST00000361511.4	+	14	1716	c.1222G>A	c.(1222-1224)Gaa>Aaa	p.E408K	PPEF1_ENST00000543630.1_Intron|PPEF1_ENST00000349874.5_Intron|PPEF1_ENST00000359763.6_Missense_Mutation_p.E355K|PPEF1_ENST00000544635.1_Missense_Mutation_p.E343K	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	408	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|phototransduction, visible light (GO:0007603)|protein dephosphorylation (GO:0006470)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					ATGTAAGCCCGAAGGGTATGA	0.433													G|||	1	0.000264901	0.0	0.0	3775	,	,		14850	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													104.0	94.0	97.0					X																	18822166		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC036026	CCDS14188.1, CCDS43920.1	Xp22	2013-01-10			ENSG00000086717	ENSG00000086717		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9243	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, alpha isozyme"""	300109		PPEF		9215685, 9326663	Standard	NM_152224		Approved	PPP7CA	uc004cyq.3	O14829	OTTHUMG00000021219	ENST00000361511.4:c.1222G>A	X.37:g.18822166G>A	ENSP00000354871:p.Glu408Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHP4|A8K348|O15253|Q9NU21|Q9UJH0	Missense_Mutation	SNP	pfam_Metallo_PEstase_dom,pfam_EF-hand,pfam_PPP_dom,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,smart_Ser/Thr-sp_prot-phosphatase,smart_EF_hand_Ca-bd,pirsf_Ser/Thr-Pase_EF-hand_contain,pfscan_EF_HAND_2,pfscan_IQ_motif_EF-hand-BS,prints_Ser/Thr-sp_prot-phosphatase	p.E408K	ENST00000361511.4	37	c.1222	CCDS14188.1	X	1	6.027727546714888E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	32	5.119993	0.94385	.	.	ENSG00000086717	ENST00000361511;ENST00000359763;ENST00000544635	T;T;T	0.06371	3.31;3.31;3.31	5.4	5.4	0.78164	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);	0.315608	0.27811	N	0.017757	T	0.15046	0.0363	L	0.48260	1.515	0.58432	D	0.999999	D;D	0.69078	0.997;0.995	P;P	0.53954	0.726;0.738	T	0.00593	-1.1654	10	0.48119	T	0.1	-11.3484	18.2534	0.90011	0.0:0.0:1.0:0.0	.	408;380	O14829;O14829-3	PPE1_HUMAN;.	K	408;355;343	ENSP00000354871:E408K;ENSP00000352806:E355K;ENSP00000441289:E343K	ENSP00000352806:E355K	E	+	1	0	PPEF1	18732087	1.000000	0.71417	0.938000	0.37757	0.995000	0.86356	7.641000	0.83368	2.248000	0.74166	0.594000	0.82650	GAA	PPEF1	-	smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr-Pase_EF-hand_contain,prints_Ser/Thr-sp_prot-phosphatase	ENSG00000086717		0.433	PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPEF1	HGNC	protein_coding	OTTHUMT00000055953.3	92	0.00	0	G	NM_006240		18822166	18822166	+1	no_errors	ENST00000361511	ensembl	human	known	69_37n	missense	99	13.91	16	SNP	1.000	A
PPFIA1	8500	genome.wustl.edu	37	11	70194314	70194314	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:70194314G>T	ENST00000253925.7	+	16	2166	c.1951G>T	c.(1951-1953)Gaa>Taa	p.E651*	AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Nonsense_Mutation_p.E651*	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	651					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			GGAAGAAAAAGAAAATACAGA	0.413																																						dbGAP											0													91.0	81.0	84.0					11																	70194314		2200	4294	6494	-	-	-	SO:0001587	stop_gained	0			U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.1951G>T	11.37:g.70194314G>T	ENSP00000253925:p.Glu651*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLE3|Q13135|Q14567|Q8N4I2	Nonsense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.E651*	ENST00000253925.7	37	c.1951	CCDS31627.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	42|42	9.406925|9.406925	0.99161|0.99161	.|.	.|.	ENSG00000131626|ENSG00000131626	ENST00000253925;ENST00000389547;ENST00000544950|ENST00000528750	.|T	.|0.53206	.|0.63	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.69314	.|0.3097	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73110	.|-0.4086	.|5	0.66056|0.87932	D|D	0.02|0	.|.	19.3945|19.3945	0.94601|0.94601	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|N	651;651;138|54	.|ENSP00000434445:K54N	ENSP00000253925:E651X|ENSP00000434445:K54N	E|K	+|+	1|3	0|2	PPFIA1|PPFIA1	69871962|69871962	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.958000|0.958000	0.62258|0.62258	9.160000|9.160000	0.94734|0.94734	2.581000|2.581000	0.87130|0.87130	0.655000|0.655000	0.94253|0.94253	GAA|AAG	PPFIA1	-	NULL	ENSG00000131626		0.413	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPFIA1	HGNC	protein_coding	OTTHUMT00000393905.1	66	0.00	0	G	NM_003626		70194314	70194314	+1	no_errors	ENST00000253925	ensembl	human	known	69_37n	nonsense	280	11.39	36	SNP	1.000	T
PPFIA2	8499	genome.wustl.edu	37	12	81777896	81777896	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:81777896C>G	ENST00000549396.1	-	9	1050	c.890G>C	c.(889-891)cGa>cCa	p.R297P	RP11-315E17.1_ENST00000546936.1_RNA|PPFIA2_ENST00000549325.1_Missense_Mutation_p.R279P|PPFIA2_ENST00000548586.1_Missense_Mutation_p.R297P|PPFIA2_ENST00000443686.3_Missense_Mutation_p.R198P|PPFIA2_ENST00000550359.2_Missense_Mutation_p.R144P|PPFIA2_ENST00000545296.2_5'UTR|PPFIA2_ENST00000550584.2_Missense_Mutation_p.R297P|PPFIA2_ENST00000333447.7_Missense_Mutation_p.R279P|PPFIA2_ENST00000407050.4_Missense_Mutation_p.R223P|PPFIA2_ENST00000552948.1_Missense_Mutation_p.R297P	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	297	Glu-rich.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CTCTCCCACTCGGGAAGAAAG	0.413																																						dbGAP											0													139.0	132.0	134.0					12																	81777896		1887	4119	6006	-	-	-	SO:0001583	missense	0			AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.890G>C	12.37:g.81777896C>G	ENSP00000450337:p.Arg297Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.R297P	ENST00000549396.1	37	c.890	CCDS55857.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.214484|5.214484	0.95104|0.95104	.|.	.|.	ENSG00000139220|ENSG00000139220	ENST00000548790|ENST00000549396;ENST00000549325;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948	.|T;T;T;T;T;T;T	.|0.81330	.|1.12;1.12;1.12;-1.48;1.12;1.12;1.12	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.90403|0.90403	0.6996|0.6996	M|M	0.77820|0.77820	2.39|2.39	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.999;0.996	.|D;D	.|0.85130	.|0.997;0.979	D|D	0.90651|0.90651	0.4582|0.4582	5|10	.|0.72032	.|D	.|0.01	-11.4109|-11.4109	19.9576|19.9576	0.97228|0.97228	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|197;297	.|B7Z4H8;O75334	.|.;LIPA2_HUMAN	Q|P	115|297;279;223;308;279;297;198;297	.|ENSP00000450337:R297P;ENSP00000450298:R279P;ENSP00000385093:R223P;ENSP00000327416:R279P;ENSP00000449338:R297P;ENSP00000388373:R198P;ENSP00000447868:R297P	.|ENSP00000327416:R279P	E|R	-|-	1|2	0|0	PPFIA2|PPFIA2	80302027|80302027	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.776000|7.776000	0.85560|0.85560	2.720000|2.720000	0.93068|0.93068	0.557000|0.557000	0.71058|0.71058	GAG|CGA	PPFIA2	-	NULL	ENSG00000139220		0.413	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPFIA2	HGNC	protein_coding	OTTHUMT00000408030.1	170	0.00	0	C			81777896	81777896	-1	no_errors	ENST00000549396	ensembl	human	known	69_37n	missense	177	21.33	48	SNP	1.000	G
PPFIBP1	8496	genome.wustl.edu	37	12	27844717	27844717	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:27844717G>C	ENST00000318304.8	+	27	3022	c.2739G>C	c.(2737-2739)ttG>ttC	p.L913F	PPFIBP1_ENST00000228425.6_Missense_Mutation_p.L907F|PPFIBP1_ENST00000542629.1_Missense_Mutation_p.L882F|PPFIBP1_ENST00000537927.1_Missense_Mutation_p.L760F	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	913					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)			PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					TTGGGAATTTGAGAAAGAAGA	0.353																																						dbGAP											0													109.0	109.0	109.0					12																	27844717		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF034802	CCDS8713.1, CCDS55812.1, CCDS55813.1, CCDS55814.1	12p12.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9249	protein-coding gene	gene with protein product		603141				9624153, 11836260	Standard	NM_003622		Approved	L2, hSGT2, hSgt2p, SGT2	uc001ric.2	Q86W92		ENST00000318304.8:c.2739G>C	12.37:g.27844717G>C	ENSP00000314724:p.Leu913Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	O75336|Q86X70|Q9NY03|Q9ULJ0	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.L913F	ENST00000318304.8	37	c.2739	CCDS55812.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.71|18.71	3.682389|3.682389	0.68157|0.68157	.|.	.|.	ENSG00000110841|ENSG00000110841	ENST00000540114;ENST00000537927;ENST00000318304;ENST00000542629;ENST00000228425|ENST00000539326	T;T;T;T;T|.	0.46819|.	0.86;1.35;1.77;1.77;1.77|.	5.5|5.5	4.41|4.41	0.53225|0.53225	.|.	0.000000|.	0.27861|.	U|.	0.017543|.	T|.	0.72811|.	0.3507|.	M|M	0.76170|0.76170	2.325|2.325	0.53688|0.53688	D|D	0.999979|0.999979	D;D;D;P;D|.	0.89917|.	0.997;1.0;1.0;0.84;0.999|.	D;D;D;P;D|.	0.91635|.	0.986;0.999;0.98;0.655;0.991|.	T|.	0.73319|.	-0.4020|.	10|.	0.37606|.	T|.	0.19|.	-11.9901|-11.9901	12.6936|12.6936	0.56990|0.56990	0.1365:0.0:0.8635:0.0|0.1365:0.0:0.8635:0.0	.|.	760;744;913;907;882|.	Q86W92-3;F5GZP6;Q86W92;Q86W92-2;Q86W92-4|.	.;.;LIPB1_HUMAN;.;.|.	F|S	744;760;913;882;907|144	ENSP00000444304:L744F;ENSP00000445425:L760F;ENSP00000314724:L913F;ENSP00000443442:L882F;ENSP00000228425:L907F|.	ENSP00000228425:L907F|.	L|X	+|+	3|2	2|2	PPFIBP1|PPFIBP1	27735984|27735984	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.932000|0.932000	0.56968|0.56968	3.133000|3.133000	0.50531|0.50531	2.577000|2.577000	0.86979|0.86979	0.655000|0.655000	0.94253|0.94253	TTG|TGA	PPFIBP1	-	NULL	ENSG00000110841		0.353	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	PPFIBP1	HGNC	protein_coding	OTTHUMT00000402877.1	73	0.00	0	G	NM_003622		27844717	27844717	+1	no_errors	ENST00000318304	ensembl	human	known	69_37n	missense	29	39.58	19	SNP	1.000	C
PPFIA2	8499	genome.wustl.edu	37	12	81839383	81839383	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:81839383G>C	ENST00000549396.1	-	6	682	c.522C>G	c.(520-522)ctC>ctG	p.L174L	PPFIA2_ENST00000549325.1_Silent_p.L156L|PPFIA2_ENST00000548586.1_Silent_p.L174L|PPFIA2_ENST00000443686.3_Silent_p.L100L|PPFIA2_ENST00000550359.2_Silent_p.L21L|PPFIA2_ENST00000545296.2_5'UTR|RP11-315E17.1_ENST00000550272.1_RNA|PPFIA2_ENST00000550584.2_Silent_p.L174L|PPFIA2_ENST00000333447.7_Silent_p.L156L|PPFIA2_ENST00000407050.4_Silent_p.L100L|PPFIA2_ENST00000552948.1_Silent_p.L174L	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	174	Glu-rich.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TCAGTGCCTTGAGAACTTCAA	0.443																																						dbGAP											0													137.0	130.0	132.0					12																	81839383		1925	4138	6063	-	-	-	SO:0001819	synonymous_variant	0			AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.522C>G	12.37:g.81839383G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.Q100E	ENST00000549396.1	37	c.298	CCDS55857.1	12																																																																																			PPFIA2	-	NULL	ENSG00000139220		0.443	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPFIA2	HGNC	protein_coding	OTTHUMT00000408030.1	113	0.00	0	G			81839383	81839383	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000550359	ensembl	human	known	69_37n	missense	108	21.74	30	SNP	1.000	C
PPFIBP2	8495	genome.wustl.edu	37	11	7674392	7674392	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:7674392C>T	ENST00000299492.4	+	24	2962	c.2574C>T	c.(2572-2574)ctC>ctT	p.L858L	PPFIBP2_ENST00000528883.1_Silent_p.L746L|PPFIBP2_ENST00000533792.1_Silent_p.L700L|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000530181.1_Silent_p.L715L	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	858					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		ACCGGGGCCTCAGCCCCCTTG	0.562																																						dbGAP											0													93.0	82.0	86.0					11																	7674392		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387		"""Sterile alpha motif (SAM) domain containing"""	9250	protein-coding gene	gene with protein product		603142				9624153	Standard	NM_003621		Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000299492.4:c.2574C>T	11.37:g.7674392C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z433|E9PK77|O75337|Q8WW26	Nonsense_Mutation	SNP	NULL	p.Q90*	ENST00000299492.4	37	c.268	CCDS31419.1	11	.	.	.	.	.	.	.	.	.	.	c	9.126	1.010169	0.19277	.	.	ENSG00000166387	ENST00000537467;ENST00000534552	.	.	.	5.92	-0.302	0.12796	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.1834	10.2863	0.43568	0.0:0.5881:0.0:0.4119	.	.	.	.	X	398;90	.	.	Q	+	1	0	PPFIBP2	7630968	0.029000	0.19370	0.584000	0.28653	0.957000	0.61999	-0.716000	0.04991	-0.060000	0.13132	-0.119000	0.15052	CAG	PPFIBP2	-	NULL	ENSG00000166387		0.562	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPFIBP2	HGNC	protein_coding	OTTHUMT00000385345.2	30	0.00	0	C	NM_003621		7674392	7674392	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000534552	ensembl	human	putative	69_37n	nonsense	29	21.62	8	SNP	0.921	T
PPIAL4G	644591	genome.wustl.edu	37	1	143767710	143767710	+	Missense_Mutation	SNP	G	G	A	rs267597992		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:143767710G>A	ENST00000419275.1	-	1	171	c.139C>T	c.(139-141)Cgt>Tgt	p.R47C		NM_001123068.1	NP_001116540.1	A2BFH1	PAL4G_HUMAN	peptidylprolyl isomerase A (cyclophilin A)-like 4G	47	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				protein folding (GO:0006457)	cytoplasm (GO:0005737)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.R47C(1)		breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						CCCTTATAACGAAATCCTTTC	0.483																																						dbGAP											1	Substitution - Missense(1)	skin(1)											61.0	62.0	62.0					1																	143767710		1568	3561	5129	-	-	-	SO:0001583	missense	0				CCDS41375.1, CCDS41375.2	1q21.1	2010-06-03			ENSG00000236334	ENSG00000236334			33996	protein-coding gene	gene with protein product							Standard	NM_001123068		Approved		uc001ejt.3	A2BFH1	OTTHUMG00000013629	ENST00000419275.1:c.139C>T	1.37:g.143767710G>A	ENSP00000393845:p.Arg47Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L431	Missense_Mutation	SNP	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.R47C	ENST00000419275.1	37	c.139	CCDS41375.1	1	.	.	.	.	.	.	.	.	.	.	.	8.665	0.901393	0.17760	.	.	ENSG00000236334	ENST00000419275	T	0.22336	1.96	0.523	-1.05	0.10036	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (3);Cyclophilin-like (1);	0.128764	0.51477	U	0.000087	T	0.02304	0.0071	N	0.04297	-0.235	0.29873	N	0.826698	B	0.06786	0.001	B	0.04013	0.001	T	0.41520	-0.9504	10	0.62326	D	0.03	.	7.3641	0.26762	0.0:0.5204:0.4796:0.0	.	47	A2BFH1	PAL4G_HUMAN	C	47	ENSP00000393845:R47C	ENSP00000393845:R47C	R	-	1	0	PPIAL4G	142559233	1.000000	0.71417	0.035000	0.18076	0.121000	0.20230	3.736000	0.55052	-2.182000	0.00764	-2.075000	0.00382	CGT	PPIAL4G	-	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom	ENSG00000236334		0.483	PPIAL4G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPIAL4G	HGNC	protein_coding	OTTHUMT00000037969.1	246	0.00	0	G	NM_001123068		143767710	143767710	-1	no_errors	ENST00000419275	ensembl	human	known	69_37n	missense	266	12.46	38	SNP	1.000	A
PPID	5481	genome.wustl.edu	37	4	159631981	159631981	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:159631981G>C	ENST00000307720.3	-	8	1021	c.914C>G	c.(913-915)tCa>tGa	p.S305*		NM_005038.2	NP_005029.1	Q08752	PPID_HUMAN	peptidylprolyl isomerase D	305	Interaction with HSP90AB1. {ECO:0000250}.				apoptotic process (GO:0006915)|cellular response to UV-A (GO:0071492)|chaperone-mediated protein folding (GO:0061077)|lipid particle organization (GO:0034389)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein secretion (GO:0050714)|positive regulation of viral genome replication (GO:0045070)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)|protein transport (GO:0015031)|viral release from host cell (GO:0019076)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|estrogen receptor binding (GO:0030331)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|transcription factor binding (GO:0008134)	p.S305L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0159)		TTTGGTATTTGATGGGTCTAG	0.318																																						dbGAP											1	Substitution - Missense(1)	endometrium(1)											129.0	140.0	136.0					4																	159631981		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS3801.1	4q31.3	2013-01-10	2008-10-24		ENSG00000171497	ENSG00000171497		"""Tetratricopeptide (TTC) repeat domain containing"""	9257	protein-coding gene	gene with protein product	"""cyclophilin 40"""	601753	"""peptidylprolyl isomerase D (cyclophilin D)"""			8509368	Standard	NM_005038		Approved	CYP-40	uc003iqc.3	Q08752	OTTHUMG00000161927	ENST00000307720.3:c.914C>G	4.37:g.159631981G>C	ENSP00000303754:p.Ser305*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9V2	Nonsense_Mutation	SNP	pfam_Cyclophilin-like_PPIase_dom,pfam_TPR-1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.S305*	ENST00000307720.3	37	c.914	CCDS3801.1	4	.	.	.	.	.	.	.	.	.	.	G	38	7.241987	0.98157	.	.	ENSG00000171497	ENST00000307720	.	.	.	5.44	2.75	0.32379	.	0.240061	0.21239	N	0.077844	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-2.3809	11.6635	0.51361	0.1989:0.0:0.8011:0.0	.	.	.	.	X	305	.	ENSP00000303754:S305X	S	-	2	0	PPID	159851431	0.980000	0.34600	0.996000	0.52242	0.976000	0.68499	1.893000	0.39758	0.465000	0.27167	0.650000	0.86243	TCA	PPID	-	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000171497		0.318	PPID-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPID	HGNC	protein_coding	OTTHUMT00000366436.1	192	0.00	0	G	NM_005038		159631981	159631981	-1	no_errors	ENST00000307720	ensembl	human	known	69_37n	nonsense	78	53.25	90	SNP	0.992	C
PPIG	9360	genome.wustl.edu	37	2	170492643	170492643	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:170492643C>T	ENST00000260970.3	+	13	1279	c.1059C>T	c.(1057-1059)ttC>ttT	p.F353F	PPIG_ENST00000448752.2_Silent_p.F353F|PPIG_ENST00000409714.3_Silent_p.F338F|PPIG_ENST00000482772.1_3'UTR	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	353					protein folding (GO:0006457)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	GGGATCGTTTCAGACGTAGTG	0.423																																						dbGAP											0													101.0	98.0	99.0					2																	170492643		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X99717	CCDS2235.1	2q31.1	2010-07-23	2006-01-12		ENSG00000138398	ENSG00000138398	6.1.1.16		14650	protein-coding gene	gene with protein product	"""SR-related CTD-associated factor 10"""	606093	"""peptidyl-prolyl isomerase G (cyclophilin G)"""			8973360, 9153302	Standard	NM_004792		Approved	CARS-Cyp, SRCyp, SCAF10	uc002uez.3	Q13427	OTTHUMG00000132206	ENST00000260970.3:c.1059C>T	2.37:g.170492643C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Silent	SNP	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.F353	ENST00000260970.3	37	c.1059	CCDS2235.1	2																																																																																			PPIG	-	NULL	ENSG00000138398		0.423	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPIG	HGNC	protein_coding	OTTHUMT00000255264.2	66	0.00	0	C			170492643	170492643	+1	no_errors	ENST00000260970	ensembl	human	known	69_37n	silent	97	14.91	17	SNP	1.000	T
PPIP5K2	23262	genome.wustl.edu	37	5	102530701	102530701	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:102530701G>C	ENST00000358359.3	+	30	4103	c.3594G>C	c.(3592-3594)aaG>aaC	p.K1198N	PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.K1177N|PPIP5K2_ENST00000321521.9_Missense_Mutation_p.K1177N	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	1198					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CTACCTTAAAGAGCACTAAAG	0.393																																						dbGAP											0													123.0	98.0	106.0					5																	102530701		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"""histidine acid phosphatase domain containing 1"""	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.3594G>C	5.37:g.102530701G>C	ENSP00000351126:p.Lys1198Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A1NI53|A6NGS8|Q8TB50	Missense_Mutation	SNP	pfam_His_Pase_superF_clade-2	p.K1198N	ENST00000358359.3	37	c.3594		5	.	.	.	.	.	.	.	.	.	.	G	18.25	3.582216	0.65992	.	.	ENSG00000145725	ENST00000321521;ENST00000358359;ENST00000451606;ENST00000414217;ENST00000509597	T;T;T;T	0.23754	2.49;2.48;2.49;1.89	5.78	4.9	0.64082	.	0.328112	0.29594	N	0.011701	T	0.20170	0.0485	L	0.36672	1.1	0.27804	N	0.942387	B;B;B	0.25667	0.131;0.062;0.037	B;B;B	0.22386	0.039;0.025;0.011	T	0.07271	-1.0781	10	0.25106	T	0.35	-13.9827	13.0996	0.59212	0.0761:0.0:0.9239:0.0	.	1233;1177;1198	E9PGM8;O43314-2;O43314	.;.;VIP2_HUMAN	N	1177;1198;1233;1177;353	ENSP00000313070:K1177N;ENSP00000351126:K1198N;ENSP00000416016:K1177N;ENSP00000424948:K353N	ENSP00000313070:K1177N	K	+	3	2	PPIP5K2	102558600	0.995000	0.38212	0.986000	0.45419	0.966000	0.64601	2.908000	0.48750	2.724000	0.93272	0.655000	0.94253	AAG	PPIP5K2	-	NULL	ENSG00000145725		0.393	PPIP5K2-003	KNOWN	basic	protein_coding	PPIP5K2	HGNC	protein_coding	OTTHUMT00000370487.1	96	0.00	0	G	NM_015216		102530701	102530701	+1	no_errors	ENST00000358359	ensembl	human	known	69_37n	missense	73	25.51	25	SNP	0.872	C
PPM1E	22843	genome.wustl.edu	37	17	56833543	56833543	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:56833543C>T	ENST00000308249.2	+	1	314	c.185C>T	c.(184-186)tCg>tTg	p.S62L		NM_014906.4	NP_055721.3	Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	0	PP2C-like.				protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|manganese ion binding (GO:0030145)			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			GCCGAGGCTTCGGTAGAGGAA	0.711																																						dbGAP											0													11.0	12.0	11.0					17																	56833543		2106	4160	6266	-	-	-	SO:0001583	missense	0			AB028995	CCDS11613.1	17q24.2	2012-04-17	2010-03-05		ENSG00000175175	ENSG00000175175		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	19322	protein-coding gene	gene with protein product	"""partner of PIX 1"", ""nuclear calmodulin-dependent protein kinase phosphatase"""		"""protein phosphatase 1E (PP2C domain containing)"""			11864573, 10470851	Standard	NR_048561		Approved	POPX1, KIAA1072, PP2CH, CaMKP-N	uc002iwx.4	Q8WY54		ENST00000308249.2:c.185C>T	17.37:g.56833543C>T	ENSP00000312411:p.Ser62Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N8J9|Q96DB8	Missense_Mutation	SNP	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	p.S62L	ENST00000308249.2	37	c.185	CCDS11613.1	17	.	.	.	.	.	.	.	.	.	.	C	13.90	2.375399	0.42105	.	.	ENSG00000175175	ENST00000308249	T	0.24350	1.86	3.42	0.163	0.14986	.	2.822290	0.02020	U	0.047683	T	0.17916	0.0430	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.20874	-1.0262	10	0.40728	T	0.16	-16.5185	6.1261	0.20180	0.0:0.6264:0.0:0.3736	.	62	Q8WY54-2	.	L	62	ENSP00000312411:S62L	ENSP00000312411:S62L	S	+	2	0	PPM1E	54188542	0.986000	0.35501	0.426000	0.26672	0.799000	0.45148	0.087000	0.14958	-0.037000	0.13646	0.462000	0.41574	TCG	PPM1E	-	NULL	ENSG00000175175		0.711	PPM1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPM1E	HGNC	protein_coding	OTTHUMT00000445458.1	15	0.00	0	C	NM_014906		56833543	56833543	+1	no_errors	ENST00000308249	ensembl	human	known	69_37n	missense	30	16.22	6	SNP	0.132	T
TRIM37	4591	genome.wustl.edu	37	17	57057971	57057971	+	IGR	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:57057971C>G	ENST00000393066.3	-	0	3622				PPM1E_ENST00000308249.2_Nonsense_Mutation_p.S616*	NM_001005207.2	NP_001005207.1	O94972	TRI37_HUMAN	tripartite motif containing 37						aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					GTTCAGTCATCATTGCCTGAA	0.433									Mulibrey Nanism																													dbGAP											0													122.0	121.0	121.0					17																	57057971		2203	4300	6503	-	-	-	SO:0001628	intergenic_variant	0	Familial Cancer Database	Perheentupa syndrome	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	7523	protein-coding gene	gene with protein product	"""RING-B-box-coiled-coil protein"""	605073	"""tripartite motif-containing 37"""	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972			17.37:g.57057971C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z3E6|Q8IYF7|Q8WYF7	Nonsense_Mutation	SNP	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	p.S616*	ENST00000393066.3	37	c.1847	CCDS45746.1	17	.	.	.	.	.	.	.	.	.	.	C	24.0	4.480877	0.84747	.	.	ENSG00000175175	ENST00000308249;ENST00000443121	.	.	.	5.58	5.58	0.84498	.	0.857246	0.10498	N	0.667601	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-16.6295	12.111	0.53840	0.0:0.921:0.0:0.079	.	.	.	.	X	616;467	.	ENSP00000312411:S616X	S	+	2	0	PPM1E	54412753	0.889000	0.30405	1.000000	0.80357	0.992000	0.81027	2.126000	0.42026	2.639000	0.89480	0.491000	0.48974	TCA	PPM1E	-	NULL	ENSG00000175175		0.433	TRIM37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPM1E	HGNC	protein_coding	OTTHUMT00000445928.1	65	0.00	0	C	NM_015294		57057971	57057971	+1	no_errors	ENST00000308249	ensembl	human	known	69_37n	nonsense	186	12.26	26	SNP	0.946	G
PPP1R12A	4659	genome.wustl.edu	37	12	80214596	80214596	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:80214596C>T	ENST00000450142.2	-	8	1338	c.1072G>A	c.(1072-1074)Gaa>Aaa	p.E358K	PPP1R12A_ENST00000437004.2_Missense_Mutation_p.E358K|PPP1R12A_ENST00000261207.5_Missense_Mutation_p.E358K|PPP1R12A_ENST00000550107.1_Missense_Mutation_p.E358K|PPP1R12A_ENST00000546369.1_Missense_Mutation_p.E271K|RP11-530C5.2_ENST00000548469.1_RNA	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	358					centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)|regulation of nucleocytoplasmic transport (GO:0046822)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|PTW/PP1 phosphatase complex (GO:0072357)	14-3-3 protein binding (GO:0071889)|enzyme inhibitor activity (GO:0004857)|phosphatase regulator activity (GO:0019208)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						TCATCTTCTTCACTAGAGCAG	0.363																																						dbGAP											0													209.0	202.0	204.0					12																	80214596		1905	4105	6010	-	-	-	SO:0001583	missense	0			D87930	CCDS44947.1, CCDS44948.1, CCDS58259.1, CCDS58260.1	12q15-q21	2013-01-18	2011-10-04	2001-08-10	ENSG00000058272	ENSG00000058272		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7618	protein-coding gene	gene with protein product	"""myosin phosphatase-targeting subunit 1"", ""myosin binding subunit"""	602021	"""protein phosphatase 1, regulatory (inhibitor) subunit 12A"""	MYPT1		9286714	Standard	NM_002480		Approved	MBS, M130	uc001syz.3	O14974	OTTHUMG00000170100	ENST00000450142.2:c.1072G>A	12.37:g.80214596C>T	ENSP00000389168:p.Glu358Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZ09|F8VWB4|Q2NKL4|Q569H0|Q86WU3|Q8NFR6|Q9BYH0	Missense_Mutation	SNP	pirsf_Pase-1_reg_su_12A/B/C_euk,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E358K	ENST00000450142.2	37	c.1072	CCDS44947.1	12	.	.	.	.	.	.	.	.	.	.	C	33	5.236766	0.95240	.	.	ENSG00000058272	ENST00000261207;ENST00000546189;ENST00000360825;ENST00000341878;ENST00000312727;ENST00000450142;ENST00000437004;ENST00000546369;ENST00000550107;ENST00000547330;ENST00000547131	T;T;T;T;T;T;T	0.52754	1.16;1.16;1.18;1.18;1.13;1.09;0.65	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.68586	0.3017	M	0.79693	2.465	0.80722	D	1	D;D;D;D	0.71674	0.996;0.998;0.996;0.997	D;D;D;D	0.78314	0.987;0.991;0.987;0.98	T	0.63844	-0.6545	10	0.06891	T	0.86	.	20.1392	0.98050	0.0:1.0:0.0:0.0	.	358;358;358;358	F8W8Q6;O14974-2;O14974-3;O14974	.;.;.;MYPT1_HUMAN	K	358;358;358;358;358;358;358;271;358;358;53	ENSP00000261207:E358K;ENSP00000389168:E358K;ENSP00000416769:E358K;ENSP00000449514:E271K;ENSP00000446855:E358K;ENSP00000446816:E358K;ENSP00000450061:E53K	ENSP00000261207:E358K	E	-	1	0	PPP1R12A	78738727	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.247000	0.78257	2.751000	0.94390	0.591000	0.81541	GAA	PPP1R12A	-	pirsf_Pase-1_reg_su_12A/B/C_euk	ENSG00000058272		0.363	PPP1R12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R12A	HGNC	protein_coding	OTTHUMT00000407254.2	303	0.00	0	C	NM_002480		80214596	80214596	-1	no_errors	ENST00000261207	ensembl	human	known	69_37n	missense	270	10.60	32	SNP	1.000	T
PPP1R13L	10848	genome.wustl.edu	37	19	45885896	45885896	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:45885896G>C	ENST00000418234.2	-	12	2415	c.2337C>G	c.(2335-2337)ttC>ttG	p.F779L	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.F779L	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	779	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic camera-type eye development (GO:0031076)|hair cycle (GO:0042633)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle tissue development (GO:0003229)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CGCCCTCGCGGAAGGACAGCT	0.682																																					Pancreas(61;1447 1663 31419 50578)	dbGAP											0													55.0	46.0	49.0					19																	45885896		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF078036	CCDS33050.1	19q13.32	2013-01-10	2011-10-04		ENSG00000104881	ENSG00000104881		"""Ankyrin repeat domain containing"""	18838	protein-coding gene	gene with protein product		607463	"""protein phosphatase 1, regulatory (inhibitor) subunit 13 like"""			10336463	Standard	NM_006663		Approved	RAI, IASPP	uc002pbo.3	Q8WUF5		ENST00000418234.2:c.2337C>G	19.37:g.45885896G>C	ENSP00000403902:p.Phe779Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain	p.F779L	ENST00000418234.2	37	c.2337	CCDS33050.1	19	.	.	.	.	.	.	.	.	.	.	G	16.39	3.110041	0.56398	.	.	ENSG00000104881	ENST00000418234;ENST00000360957;ENST00000221478	T;T	0.34472	1.36;1.36	4.61	4.61	0.57282	Src homology-3 domain (5);	0.053909	0.85682	D	0.000000	T	0.31918	0.0812	L	0.39020	1.185	0.54753	D	0.999987	P;P	0.43607	0.812;0.792	P;B	0.44422	0.449;0.324	T	0.04017	-1.0984	10	0.35671	T	0.21	.	10.9358	0.47245	0.0:0.1904:0.8096:0.0	.	779;358	Q8WUF5;A7YME7	IASPP_HUMAN;.	L	779;779;353	ENSP00000403902:F779L;ENSP00000354218:F779L	ENSP00000221478:F353L	F	-	3	2	PPP1R13L	50577736	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.513000	0.53414	2.100000	0.63781	0.462000	0.41574	TTC	PPP1R13L	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain	ENSG00000104881		0.682	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PPP1R13L	HGNC	protein_coding	OTTHUMT00000457586.1	20	0.00	0	G	NM_006663		45885896	45885896	-1	no_errors	ENST00000360957	ensembl	human	known	69_37n	missense	18	25.00	6	SNP	1.000	C
PPP1R15B	84919	genome.wustl.edu	37	1	204378679	204378679	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:204378679C>T	ENST00000367188.4	-	1	2240	c.1861G>A	c.(1861-1863)Gac>Aac	p.D621N	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	621					ER overload response (GO:0006983)|regulation of translation (GO:0006417)|response to hydrogen peroxide (GO:0042542)	protein phosphatase type 1 complex (GO:0000164)	protein serine/threonine phosphatase activity (GO:0004722)			breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			TGTACCGAGTCTGGACATTCA	0.443																																						dbGAP											0													72.0	71.0	71.0					1																	204378679		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK027650	CCDS1445.1	1q32.1	2012-04-17	2011-10-04		ENSG00000158615	ENSG00000158615		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14951	protein-coding gene	gene with protein product		613257	"""protein phosphatase 1, regulatory (inhibitor) subunit 15B"""			11948623	Standard	XM_005245551		Approved	FLJ14744	uc001hav.4	Q5SWA1	OTTHUMG00000036105	ENST00000367188.4:c.1861G>A	1.37:g.204378679C>T	ENSP00000356156:p.Asp621Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53GQ4|Q658M2|Q6P156|Q96SN1	Missense_Mutation	SNP	pfam_Prot_Pase1_reg-su15B_N,pfam_Prot_Pase1_reg-su15A/B_C	p.D621N	ENST00000367188.4	37	c.1861	CCDS1445.1	1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.566026	0.45694	.	.	ENSG00000158615	ENST00000367188;ENST00000543650	T	0.22539	1.95	5.28	2.35	0.29111	Protein phosphatase 1, regulatory subunit 15A/B, C-terminal (1);	0.571409	0.17586	N	0.168926	T	0.18045	0.0433	L	0.52364	1.645	0.09310	N	1	B	0.24258	0.1	B	0.26094	0.066	T	0.17592	-1.0364	10	0.41790	T	0.15	-4.8955	6.331	0.21270	0.0:0.684:0.1525:0.1634	.	621	Q5SWA1	PR15B_HUMAN	N	621;531	ENSP00000356156:D621N	ENSP00000356156:D621N	D	-	1	0	PPP1R15B	202645302	0.168000	0.22989	0.365000	0.25901	0.972000	0.66771	2.013000	0.40942	0.582000	0.29556	0.655000	0.94253	GAC	PPP1R15B	-	pfam_Prot_Pase1_reg-su15A/B_C	ENSG00000158615		0.443	PPP1R15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R15B	HGNC	protein_coding	OTTHUMT00000087974.1	61	0.00	0	C	NM_032833		204378679	204378679	-1	no_errors	ENST00000367188	ensembl	human	known	69_37n	missense	65	33.67	33	SNP	0.162	T
PPP1R35	221908	genome.wustl.edu	37	7	100033135	100033135	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:100033135C>G	ENST00000292330.2	-	4	800	c.610G>C	c.(610-612)Gac>Cac	p.D204H	PPP1R35_ENST00000476185.1_5'UTR|RP11-758P17.3_ENST00000475250.1_RNA|RP11-758P17.2_ENST00000492523.1_RNA	NM_145030.2	NP_659467.1	Q8TAP8	PPR35_HUMAN	protein phosphatase 1, regulatory subunit 35	204					negative regulation of phosphatase activity (GO:0010923)		phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										ATGGTCATGTCTGGCCCAGGC	0.597																																						dbGAP											0													68.0	67.0	67.0					7																	100033135		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC026269	CCDS5694.1	7q22.1	2012-04-17	2011-10-11	2011-10-11	ENSG00000160813	ENSG00000160813		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	28320	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 47"""	C7orf47		12477932	Standard	NM_145030		Approved	MGC22793	uc003uuy.1	Q8TAP8	OTTHUMG00000159540	ENST00000292330.2:c.610G>C	7.37:g.100033135C>G	ENSP00000292330:p.Asp204His	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D2C5	Missense_Mutation	SNP	NULL	p.D204H	ENST00000292330.2	37	c.610	CCDS5694.1	7	.	.	.	.	.	.	.	.	.	.	C	20.9	4.069342	0.76301	.	.	ENSG00000160813	ENST00000292330	.	.	.	4.62	4.62	0.57501	.	0.294663	0.28946	N	0.013640	T	0.54631	0.1870	N	0.14661	0.345	0.48632	D	0.999686	D	0.89917	1.0	D	0.74023	0.982	T	0.61272	-0.7096	9	0.87932	D	0	-25.6001	12.8437	0.57817	0.0:1.0:0.0:0.0	.	204	Q8TAP8	PPR35_HUMAN	H	204	.	ENSP00000292330:D204H	D	-	1	0	C7orf47	99871071	0.994000	0.37717	1.000000	0.80357	0.944000	0.59088	3.891000	0.56227	2.400000	0.81607	0.561000	0.74099	GAC	PPP1R35	-	NULL	ENSG00000160813		0.597	PPP1R35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R35	HGNC	protein_coding	OTTHUMT00000356095.2	97	0.00	0	C	NM_145030		100033135	100033135	-1	no_errors	ENST00000292330	ensembl	human	known	69_37n	missense	93	13.89	15	SNP	1.000	G
PPP1R3A	5506	genome.wustl.edu	37	7	113519643	113519643	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:113519643C>T	ENST00000284601.3	-	4	1572	c.1504G>A	c.(1504-1506)Gaa>Aaa	p.E502K		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	502					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GATCCTTCTTCTGTTGATTCT	0.318																																						dbGAP											0													64.0	61.0	62.0					7																	113519643		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1504G>A	7.37:g.113519643C>T	ENSP00000284601:p.Glu502Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	pfam_CBM_21,pfscan_CBM_21	p.E502K	ENST00000284601.3	37	c.1504	CCDS5759.1	7	.	.	.	.	.	.	.	.	.	.	C	13.74	2.328650	0.41197	.	.	ENSG00000154415	ENST00000284601;ENST00000449795	T;T	0.35236	1.99;1.32	5.52	1.61	0.23674	.	0.727089	0.12306	N	0.480686	T	0.31040	0.0784	L	0.60455	1.87	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.25222	-1.0138	10	0.34782	T	0.22	-0.597	6.4462	0.21877	0.0:0.3681:0.4082:0.2237	.	502	Q16821	PPR3A_HUMAN	K	502;181	ENSP00000284601:E502K;ENSP00000401278:E181K	ENSP00000284601:E502K	E	-	1	0	PPP1R3A	113306879	0.007000	0.16637	0.000000	0.03702	0.141000	0.21300	1.385000	0.34408	0.021000	0.15133	-0.251000	0.11542	GAA	PPP1R3A	-	NULL	ENSG00000154415		0.318	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R3A	HGNC	protein_coding	OTTHUMT00000346724.1	68	0.00	0	C	NM_002711		113519643	113519643	-1	no_errors	ENST00000284601	ensembl	human	known	69_37n	missense	60	21.05	16	SNP	0.000	T
PPP1R3A	5506	genome.wustl.edu	37	7	113558909	113558909	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:113558909G>C	ENST00000284601.3	-	1	211	c.143C>G	c.(142-144)tCt>tGt	p.S48C		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	48					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GTCTTCAGAAGAATCAGAACC	0.373																																						dbGAP											0													82.0	81.0	81.0					7																	113558909		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.143C>G	7.37:g.113558909G>C	ENSP00000284601:p.Ser48Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	pfam_CBM_21,pfscan_CBM_21	p.S48C	ENST00000284601.3	37	c.143	CCDS5759.1	7	.	.	.	.	.	.	.	.	.	.	G	17.06	3.291706	0.59976	.	.	ENSG00000154415	ENST00000284601	T	0.20200	2.09	6.17	6.17	0.99709	.	0.189734	0.46442	D	0.000297	T	0.39759	0.1090	M	0.76002	2.32	0.50313	D	0.99986	D	0.63880	0.993	P	0.49561	0.615	T	0.19712	-1.0297	10	0.87932	D	0	-0.0738	20.8794	0.99867	0.0:0.0:1.0:0.0	.	48	Q16821	PPR3A_HUMAN	C	48	ENSP00000284601:S48C	ENSP00000284601:S48C	S	-	2	0	PPP1R3A	113346145	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	5.986000	0.70563	2.941000	0.99782	0.655000	0.94253	TCT	PPP1R3A	-	NULL	ENSG00000154415		0.373	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R3A	HGNC	protein_coding	OTTHUMT00000346724.1	49	0.00	0	G	NM_002711		113558909	113558909	-1	no_errors	ENST00000284601	ensembl	human	known	69_37n	missense	39	20.41	10	SNP	0.998	C
PPP1R3C	5507	genome.wustl.edu	37	10	93390236	93390236	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:93390236C>T	ENST00000238994.5	-	2	486	c.402G>A	c.(400-402)ttG>ttA	p.L134L		NM_005398.5	NP_005389.1			protein phosphatase 1, regulatory subunit 3C											breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1)	12		Colorectal(252;0.235)				AATCTAAAATCAAGTTTTTCT	0.458																																						dbGAP											0													84.0	85.0	85.0					10																	93390236		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Y18207	CCDS7416.1	10q23-q24	2012-04-17	2011-10-04	2001-08-01	ENSG00000119938	ENSG00000119938		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9293	protein-coding gene	gene with protein product	"""Phosphatase 1, regulatory inhibitor subunit 5"", ""protein targeting to glycogen"""	602999	"""protein phosphatase 1, regulatory (inhibitor) subunit 3C"""	PPP1R5		8985175	Standard	NM_005398		Approved	PTG	uc001kho.3	Q9UQK1	OTTHUMG00000018745	ENST00000238994.5:c.402G>A	10.37:g.93390236C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_CBM_21,pirsf_Pase-1_Glycogen_target-su_met,pfscan_CBM_21	p.L134	ENST00000238994.5	37	c.402	CCDS7416.1	10																																																																																			PPP1R3C	-	pirsf_Pase-1_Glycogen_target-su_met	ENSG00000119938		0.458	PPP1R3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R3C	HGNC	protein_coding	OTTHUMT00000049372.1	80	0.00	0	C	NM_005398		93390236	93390236	-1	no_errors	ENST00000238994	ensembl	human	known	69_37n	silent	33	37.74	20	SNP	1.000	T
PPP1R3F	89801	genome.wustl.edu	37	X	49138468	49138468	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:49138468C>T	ENST00000055335.6	+	3	1101	c.1085C>T	c.(1084-1086)tCa>tTa	p.S362L	PPP1R3F_ENST00000438316.1_Missense_Mutation_p.S33L|PPP1R3F_ENST00000495799.1_Missense_Mutation_p.S16L|PPP1R3F_ENST00000376188.1_Missense_Mutation_p.S16L|PPP1R3F_ENST00000466508.1_Missense_Mutation_p.S16L	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	362					regulation of glycogen (starch) synthase activity (GO:2000465)|regulation of glycogen biosynthetic process (GO:0005979)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycogen binding (GO:2001069)|protein phosphatase binding (GO:0019903)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					GTCCAGGAGTCAGTGGGTCCA	0.532																																						dbGAP											0													135.0	94.0	108.0					X																	49138468		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS35254.1, CCDS55415.1	Xp11.23	2012-04-17	2011-10-04		ENSG00000049769	ENSG00000049769		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14944	protein-coding gene	gene with protein product			"""protein phosphatase 1, regulatory (inhibitor) subunit 3F"""			11948623	Standard	NM_033215		Approved	Hb2E	uc004dnh.2	Q6ZSY5	OTTHUMG00000024139	ENST00000055335.6:c.1085C>T	X.37:g.49138468C>T	ENSP00000055335:p.Ser362Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A2VDJ8|B3KPW2|E9PCM3	Nonsense_Mutation	SNP	pfam_CBM_21	p.Q112*	ENST00000055335.6	37	c.334	CCDS35254.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.61|14.61	2.586687|2.586687	0.46110|0.46110	.|.	.|.	ENSG00000049769|ENSG00000049769	ENST00000471261|ENST00000466508;ENST00000438316;ENST00000055335;ENST00000495799;ENST00000376188	.|T;T;T;T;T	.|0.62941	.|0.33;0.22;-0.01;0.33;0.33	3.81|3.81	2.94|2.94	0.34122|0.34122	.|.	.|0.206172	.|0.24642	.|N	.|0.036788	.|T	.|0.42698	.|0.1214	N|N	0.19112|0.19112	0.55|0.55	0.27343|0.27343	N|N	0.956453|0.956453	.|B;B;B	.|0.27823	.|0.019;0.019;0.19	.|B;B;B	.|0.27608	.|0.007;0.007;0.081	.|T	.|0.37842	.|-0.9688	.|10	.|0.59425	.|D	.|0.04	0.0615|0.0615	6.3121|6.3121	0.21171|0.21171	0.0:0.8629:0.0:0.1371|0.0:0.8629:0.0:0.1371	.|.	.|33;47;362	.|F5H262;A2VDJ8;Q6ZSY5	.|.;.;PPR3F_HUMAN	X|L	112|16;33;362;16;16	.|ENSP00000420687:S16L;ENSP00000415548:S33L;ENSP00000055335:S362L;ENSP00000417535:S16L;ENSP00000365359:S16L	.|ENSP00000055335:S362L	Q|S	+|+	1|2	0|0	PPP1R3F|PPP1R3F	49025412|49025412	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.925000|0.925000	0.55904|0.55904	1.705000|1.705000	0.37867|0.37867	0.969000|0.969000	0.38237|0.38237	0.529000|0.529000	0.55759|0.55759	CAG|TCA	PPP1R3F	-	NULL	ENSG00000049769		0.532	PPP1R3F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP1R3F	HGNC	protein_coding	OTTHUMT00000060819.2	146	0.00	0	C	NM_033215		49138468	49138468	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000471261	ensembl	human	putative	69_37n	nonsense	126	31.72	59	SNP	1.000	T
PPP1R42	286187	genome.wustl.edu	37	8	67926767	67926767	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:67926767G>C	ENST00000324682.5	-	3	334	c.190C>G	c.(190-192)Caa>Gaa	p.Q64E	PPP1R42_ENST00000517834.1_Intron|PPP1R42_ENST00000522909.1_Missense_Mutation_p.Q64E	NM_001013626.2	NP_001013648.1	Q7Z4L9	PPR42_HUMAN	protein phosphatase 1, regulatory subunit 42	64					regulation of phosphatase activity (GO:0010921)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|manchette (GO:0002177)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)	actin binding (GO:0003779)|dynein binding (GO:0045502)|tubulin binding (GO:0015631)										TTAGTGATTTGACTAATACAA	0.313																																						dbGAP											0													79.0	89.0	86.0					8																	67926767		2203	4291	6494	-	-	-	SO:0001583	missense	0			BC055413	CCDS34902.1	8q13.1-q13.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000178125	ENSG00000178125		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	33732	protein-coding gene	gene with protein product	"""testis leucine-rich repeat"""		"""leucine rich repeat containing 67"""	LRRC67			Standard	NM_001013626		Approved	dtr, TLLR	uc003xxc.3	Q7Z4L9	OTTHUMG00000164745	ENST00000324682.5:c.190C>G	8.37:g.67926767G>C	ENSP00000315035:p.Gln64Glu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Leu-rich_rpt	p.Q64E	ENST00000324682.5	37	c.190	CCDS34902.1	8	.	.	.	.	.	.	.	.	.	.	G	11.07	1.529627	0.27387	.	.	ENSG00000178125	ENST00000522909;ENST00000421742;ENST00000324682	T;T	0.36520	2.37;1.25	5.76	3.91	0.45181	.	0.318650	0.37906	N	0.001881	T	0.17534	0.0421	N	0.05124	-0.11	0.39988	D	0.975002	B	0.02656	0.0	B	0.06405	0.002	T	0.05818	-1.0862	10	0.16896	T	0.51	-2.6838	11.8373	0.52333	0.0:0.2492:0.6215:0.1293	.	64	Q7Z4L9-2	.	E	64	ENSP00000429721:Q64E;ENSP00000315035:Q64E	ENSP00000315035:Q64E	Q	-	1	0	LRRC67	68089321	0.955000	0.32602	1.000000	0.80357	0.882000	0.50991	0.873000	0.28052	0.732000	0.32470	0.591000	0.81541	CAA	PPP1R42	-	NULL	ENSG00000178125		0.313	PPP1R42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R42	HGNC	protein_coding	OTTHUMT00000380034.2	141	0.00	0	G	NM_001013626		67926767	67926767	-1	no_errors	ENST00000522909	ensembl	human	known	69_37n	missense	124	11.43	16	SNP	0.992	C
PPP1R9A	55607	genome.wustl.edu	37	7	94917887	94917887	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:94917887C>T	ENST00000433881.1	+	15	3473	c.2941C>T	c.(2941-2943)Cag>Tag	p.Q981*	PPP1R9A_ENST00000340694.4_Nonsense_Mutation_p.Q981*|PPP1R9A_ENST00000433360.1_Nonsense_Mutation_p.Q1257*|PPP1R9A_ENST00000456331.2_Intron|PPP1R9A_ENST00000424654.1_Intron|PPP1R9A_ENST00000289495.5_Nonsense_Mutation_p.Q1179*			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	981	Interacts with TGN38. {ECO:0000250}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			CAGTCAGTGTCAGAATCGGGC	0.433										HNSCC(28;0.073)																												dbGAP											0													165.0	135.0	145.0					7																	94917887		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.2941C>T	7.37:g.94917887C>T	ENSP00000398870:p.Gln981*	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Nonsense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,superfamily_Smac_DIABLO-like,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM	p.Q1179*	ENST00000433881.1	37	c.3535	CCDS34683.1	7	.	.	.	.	.	.	.	.	.	.	C	40	7.930567	0.98568	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000433881;ENST00000289495	.	.	.	5.61	5.61	0.85477	.	0.069884	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	20.0216	0.97506	0.0:1.0:0.0:0.0	.	.	.	.	X	1257;981;981;1179	.	ENSP00000289495:Q1179X	Q	+	1	0	PPP1R9A	94755823	1.000000	0.71417	0.996000	0.52242	0.038000	0.13279	5.999000	0.70665	2.826000	0.97356	0.655000	0.94253	CAG	PPP1R9A	-	NULL	ENSG00000158528		0.433	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R9A	HGNC	protein_coding	OTTHUMT00000340662.1	88	0.00	0	C	NM_001166160		94917887	94917887	+1	no_errors	ENST00000289495	ensembl	human	known	69_37n	nonsense	58	33.33	29	SNP	1.000	T
PPP1R9A	55607	genome.wustl.edu	37	7	94917889	94917889	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:94917889G>A	ENST00000433881.1	+	15	3475	c.2943G>A	c.(2941-2943)caG>caA	p.Q981Q	PPP1R9A_ENST00000340694.4_Silent_p.Q981Q|PPP1R9A_ENST00000433360.1_Silent_p.Q1257Q|PPP1R9A_ENST00000456331.2_Intron|PPP1R9A_ENST00000424654.1_Intron|PPP1R9A_ENST00000289495.5_Silent_p.Q1179Q			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	981	Interacts with TGN38. {ECO:0000250}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GTCAGTGTCAGAATCGGGCCG	0.428										HNSCC(28;0.073)																												dbGAP											0													168.0	137.0	147.0					7																	94917889		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.2943G>A	7.37:g.94917889G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Silent	SNP	pfam_SAM_2,pfam_SAM_type1,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,superfamily_Smac_DIABLO-like,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM	p.Q1179	ENST00000433881.1	37	c.3537	CCDS34683.1	7																																																																																			PPP1R9A	-	NULL	ENSG00000158528		0.428	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R9A	HGNC	protein_coding	OTTHUMT00000340662.1	85	0.00	0	G	NM_001166160		94917889	94917889	+1	no_errors	ENST00000289495	ensembl	human	known	69_37n	silent	47	45.98	40	SNP	0.998	A
PPP2R3B	28227	genome.wustl.edu	37	X	299558	299558	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:299558C>G	ENST00000390665.3	-	11	1443	c.1425G>C	c.(1423-1425)gaG>gaC	p.E475D		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	475					cell cycle arrest (GO:0007050)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|phosphoprotein phosphatase activity (GO:0004721)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(5)|lung(5)|skin(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)				CGAGGTACTTCTCGATGTTGA	0.637																																						dbGAP											0													200.0	194.0	196.0					X																	299558		2197	4288	6485	-	-	-	SO:0001583	missense	0			AF215840	CCDS14104.1	Xp22.3 and Yp11.3	2013-01-10	2010-06-18		ENSG00000167393	ENSG00000167393		"""Pseudoautosomal regions / PAR1"", ""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	13417	protein-coding gene	gene with protein product		300339	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'', beta"""	PPP2R3L		11173861	Standard	NM_013239		Approved	PPP2R3LY, PR48	uc004cpg.3	Q9Y5P8	OTTHUMG00000021052	ENST00000390665.3:c.1425G>C	X.37:g.299558C>G	ENSP00000375080:p.Glu475Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P4G9|Q7RTT1|Q96H01	Missense_Mutation	SNP	pfscan_EF_HAND_2	p.E475D	ENST00000390665.3	37	c.1425	CCDS14104.1	X	.	.	.	.	.	.	.	.	.	.	C	4.323	0.059282	0.08339	.	.	ENSG00000167393	ENST00000390665	T	0.44482	0.92	2.04	1.05	0.20165	.	0.072590	0.56097	N	0.000028	T	0.28499	0.0705	L	0.45744	1.44	0.09310	N	1	B	0.12013	0.005	B	0.15484	0.013	T	0.17684	-1.0361	10	0.35671	T	0.21	.	2.8138	0.05450	0.0:0.4151:0.2484:0.3364	.	475	Q9Y5P8	P2R3B_HUMAN	D	475	ENSP00000375080:E475D	ENSP00000375080:E475D	E	-	3	2	PPP2R3B	219558	1.000000	0.71417	0.419000	0.26584	0.173000	0.22820	2.365000	0.44196	-0.336000	0.08438	0.409000	0.27619	GAG	PPP2R3B	-	NULL	ENSG00000167393		0.637	PPP2R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R3B	HGNC	protein_coding	OTTHUMT00000055577.2	111	0.00	0	C	NM_013239		299558	299558	-1	no_errors	ENST00000390665	ensembl	human	known	69_37n	missense	109	28.29	43	SNP	1.000	G
PPP2R3B	28227	genome.wustl.edu	37	X	299630	299630	+	Splice_Site	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:299630C>T	ENST00000390665.3	-	11	1371	c.1353G>A	c.(1351-1353)ggG>ggA	p.G451G		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	451					cell cycle arrest (GO:0007050)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|phosphoprotein phosphatase activity (GO:0004721)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(5)|lung(5)|skin(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)				GCGTGATCTTCCCTGCGGGGA	0.622																																						dbGAP											0													161.0	156.0	158.0					X																	299630		2198	4290	6488	-	-	-	SO:0001630	splice_region_variant	0			AF215840	CCDS14104.1	Xp22.3 and Yp11.3	2013-01-10	2010-06-18		ENSG00000167393	ENSG00000167393		"""Pseudoautosomal regions / PAR1"", ""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	13417	protein-coding gene	gene with protein product		300339	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'', beta"""	PPP2R3L		11173861	Standard	NM_013239		Approved	PPP2R3LY, PR48	uc004cpg.3	Q9Y5P8	OTTHUMG00000021052	ENST00000390665.3:c.1352-1G>A	X.37:g.299630C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P4G9|Q7RTT1|Q96H01	Silent	SNP	pfscan_EF_HAND_2	p.G451	ENST00000390665.3	37	c.1353	CCDS14104.1	X																																																																																			PPP2R3B	-	NULL	ENSG00000167393		0.622	PPP2R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R3B	HGNC	protein_coding	OTTHUMT00000055577.2	64	0.00	0	C	NM_013239	Silent	299630	299630	-1	no_errors	ENST00000390665	ensembl	human	known	69_37n	silent	87	17.92	19	SNP	0.995	T
PPP2R4	5524	genome.wustl.edu	37	9	131900019	131900019	+	Intron	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:131900019G>C	ENST00000337738.1	+	9	1158				PPP2R4_ENST00000347048.4_Intron|PPP2R4_ENST00000414510.1_5'Flank|PPP2R4_ENST00000524946.2_5'Flank|PPP2R4_ENST00000423100.1_5'Flank|PPP2R4_ENST00000355007.3_Intron|PPP2R4_ENST00000358994.4_Intron|PPP2R4_ENST00000348141.5_Intron|PPP2R4_ENST00000436883.1_5'Flank|PPP2R4_ENST00000357197.4_Intron|PPP2R4_ENST00000432124.1_5'Flank|PPP2R4_ENST00000435305.1_5'Flank|PPP2R4_ENST00000393370.2_Intron|PPP2R4_ENST00000452489.2_Intron	NM_178001.2	NP_821068.1	Q15257	PTPA_HUMAN	protein phosphatase 2A activator, regulatory subunit 4						ATP catabolic process (GO:0006200)|mitotic spindle organization in nucleus (GO:0030472)|negative regulation of phosphoprotein phosphatase activity (GO:0032515)|negative regulation of protein dephosphorylation (GO:0035308)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein dephosphorylation (GO:0035307)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of phosphoprotein phosphatase activity (GO:0043666)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	ATP binding (GO:0005524)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)|protein tyrosine phosphatase activator activity (GO:0008160)|receptor binding (GO:0005102)			breast(3)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12		Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		TCCAGGCTCAGATGAACCAAG	0.552																																					Colon(158;2158 2504 4450 20433)	dbGAP											0													57.0	47.0	50.0					9																	131900019		2199	4296	6495	-	-	-	SO:0001627	intron_variant	0			X73478	CCDS6920.1, CCDS65156.1, CCDS75917.1	9q34	2010-06-18	2007-01-22		ENSG00000119383	ENSG00000119383		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9308	protein-coding gene	gene with protein product	"""phosphotyrosyl phosphatase activator"", ""PP2A phosphatase activator"""	600756	"""protein phosphatase 2A, regulatory subunit B' (PR 53)"""			8530035	Standard	NM_021131		Approved	PTPA, PR53	uc004bxm.2	Q15257	OTTHUMG00000020774	ENST00000337738.1:c.891+48G>C	9.37:g.131900019G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A2A347|A9IZU4|B4DXM4|Q15258|Q53GZ3|Q5TZQ2|Q9BUK1|Q9NNZ7|Q9NNZ8|Q9NNZ9	Missense_Mutation	SNP	pfam_Phstyr_phstse_ac	p.D92H	ENST00000337738.1	37	c.274		9	.	.	.	.	.	.	.	.	.	.	G	0.035	-1.311687	0.01342	.	.	ENSG00000119383	ENST00000455240	.	.	.	3.76	0.383	0.16239	.	.	.	.	.	T	0.30572	0.0769	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26467	-1.0102	4	.	.	.	.	6.0713	0.19891	0.419:0.0:0.581:0.0	.	.	.	.	H	92	.	.	D	+	1	0	PPP2R4	130939840	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.213000	0.09305	-0.165000	0.10908	0.555000	0.69702	GAT	PPP2R4	-	NULL	ENSG00000119383		0.552	PPP2R4-201	KNOWN	basic	protein_coding	PPP2R4	HGNC	protein_coding		56	0.00	0	G	NM_021131		131900019	131900019	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000455240	ensembl	human	putative	69_37n	missense	86	23.21	26	SNP	0.000	C
PPP2R5E	5529	genome.wustl.edu	37	14	63920533	63920533	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:63920533G>C	ENST00000337537.3	-	3	830	c.228C>G	c.(226-228)ttC>ttG	p.F76L	PPP2R5E_ENST00000422769.2_5'UTR|PPP2R5E_ENST00000555899.1_Missense_Mutation_p.F76L|PPP2R5E_ENST00000553266.1_Intron	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	76					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)		GCGTGTCCATGAAGTCAAAAA	0.408																																						dbGAP											0													112.0	105.0	108.0					14																	63920533		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.228C>G	14.37:g.63920533G>C	ENSP00000337641:p.Phe76Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A4FU37|B7ZAW5|B7ZKK8|B7ZKK9|J3KQN6|Q52LW4	Missense_Mutation	SNP	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56	p.F76L	ENST00000337537.3	37	c.228	CCDS9758.1	14	.	.	.	.	.	.	.	.	.	.	G	22.0	4.231434	0.79688	.	.	ENSG00000154001	ENST00000337537;ENST00000555899	.	.	.	6.03	6.03	0.97812	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.87204	0.6119	M	0.93062	3.375	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.985;0.985;0.999	D	0.88928	0.3371	9	0.87932	D	0	-7.6943	20.5666	0.99351	0.0:0.0:1.0:0.0	.	76;76;76	B7ZKK9;B7Z5X1;Q16537	.;.;2A5E_HUMAN	L	76	.	ENSP00000337641:F76L	F	-	3	2	PPP2R5E	62990286	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.980000	0.56895	2.854000	0.98071	0.655000	0.94253	TTC	PPP2R5E	-	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56	ENSG00000154001		0.408	PPP2R5E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP2R5E	HGNC	protein_coding	OTTHUMT00000276973.1	133	0.00	0	G	NM_006246		63920533	63920533	-1	no_errors	ENST00000337537	ensembl	human	known	69_37n	missense	81	31.36	37	SNP	1.000	C
PPP4R2	151987	genome.wustl.edu	37	3	73114211	73114211	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:73114211C>T	ENST00000356692.5	+	8	1100	c.847C>T	c.(847-849)Cag>Tag	p.Q283*	PPP4R2_ENST00000295862.9_Nonsense_Mutation_p.Q227*|PPP4R2_ENST00000394284.3_Nonsense_Mutation_p.Q226*			Q9NY27	PP4R2_HUMAN	protein phosphatase 4, regulatory subunit 2	283					cellular protein modification process (GO:0006464)|hematopoietic progenitor cell differentiation (GO:0002244)|mRNA processing (GO:0006397)|regulation of catalytic activity (GO:0050790)|regulation of double-strand break repair via homologous recombination (GO:0010569)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)	protein binding, bridging (GO:0030674)|protein phosphatase type 4 regulator activity (GO:0030362)			breast(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)|urinary_tract(2)	12		Prostate(10;0.0187)|Lung SC(41;0.236)		Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031)		ATCTTCATCTCAGGATAAAGA	0.428																																						dbGAP											0													58.0	62.0	61.0					3																	73114211		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AJ271448	CCDS2917.1	3q29	2010-06-18			ENSG00000163605	ENSG00000163605		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	18296	protein-coding gene	gene with protein product		613822				10769191	Standard	NM_174907		Approved		uc003dph.1	Q9NY27	OTTHUMG00000158816	ENST00000356692.5:c.847C>T	3.37:g.73114211C>T	ENSP00000349124:p.Gln283*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1I6|Q2TAJ9|Q498B8|Q8WXX6	Nonsense_Mutation	SNP	pfam_PPP4R2	p.Q283*	ENST00000356692.5	37	c.847	CCDS2917.1	3	.	.	.	.	.	.	.	.	.	.	C	14.61	2.586436	0.46110	.	.	ENSG00000163605	ENST00000356692;ENST00000394284;ENST00000295862	.	.	.	4.87	4.87	0.63330	.	0.933440	0.09181	N	0.837481	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	14.0434	0.64690	0.0:0.8489:0.1511:0.0	.	.	.	.	X	283;226;227	.	ENSP00000295862:Q227X	Q	+	1	0	PPP4R2	73196901	1.000000	0.71417	0.971000	0.41717	0.607000	0.37147	2.844000	0.48246	2.391000	0.81399	0.585000	0.79938	CAG	PPP4R2	-	NULL	ENSG00000163605		0.428	PPP4R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP4R2	HGNC	protein_coding	OTTHUMT00000352321.1	67	0.00	0	C	NM_174907		73114211	73114211	+1	no_errors	ENST00000356692	ensembl	human	known	69_37n	nonsense	36	44.62	29	SNP	1.000	T
PPP5C	5536	genome.wustl.edu	37	19	46886682	46886682	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:46886682C>T	ENST00000012443.4	+	5	751	c.648C>T	c.(646-648)gtC>gtT	p.V216V	PPP5C_ENST00000391919.1_Intron|AC007193.9_ENST00000599645.1_RNA	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	216	Catalytic.				cell death (GO:0008219)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein dephosphorylation (GO:0006470)|protein heterooligomerization (GO:0051291)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|RNA binding (GO:0003723)|signal transducer activity (GO:0004871)			endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		TGGTACAGGTCAAAGAGGTCC	0.647																																						dbGAP											0													50.0	42.0	45.0					19																	46886682		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS12684.1	19q13.3	2013-01-10			ENSG00000011485	ENSG00000011485	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	9322	protein-coding gene	gene with protein product		600658		PPP5		8666404	Standard	NM_006247		Approved	PP5	uc002pem.3	P53041	OTTHUMG00000134287	ENST00000012443.4:c.648C>T	19.37:g.46886682C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q16722|Q53XV2	Missense_Mutation	SNP	pfam_Metallo_PEstase_dom,pfam_PPP_dom,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr_PPase_5,prints_Ser/Thr-sp_prot-phosphatase,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S215L	ENST00000012443.4	37	c.644	CCDS12684.1	19																																																																																			PPP5C	-	pfam_PPP_dom,smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr_PPase_5	ENSG00000011485		0.647	PPP5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP5C	HGNC	protein_coding	OTTHUMT00000258969.2	21	0.00	0	C	NM_006247		46886682	46886682	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000478046	ensembl	human	known	69_37n	missense	29	25.64	10	SNP	0.980	T
PPP6R3	55291	genome.wustl.edu	37	11	68315555	68315555	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:68315555G>A	ENST00000393800.2	+	5	689	c.435G>A	c.(433-435)aaG>aaA	p.K145K	PPP6R3_ENST00000524845.1_Silent_p.K145K|PPP6R3_ENST00000527403.2_Silent_p.K145K|PPP6R3_ENST00000529710.1_Silent_p.K145K|PPP6R3_ENST00000393801.3_Silent_p.K145K|PPP6R3_ENST00000534534.1_Silent_p.K54K|PPP6R3_ENST00000265636.5_Silent_p.K145K|PPP6R3_ENST00000524904.1_Silent_p.K145K|PPP6R3_ENST00000393799.2_Silent_p.K145K|PPP6R3_ENST00000265637.4_Silent_p.K145K	NM_001164161.1|NM_001164162.1|NM_001164163.1	NP_001157633.1|NP_001157634.1|NP_001157635.1	Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	145					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TCTTAAAGAAGAAGCATGATT	0.393																																						dbGAP											0													109.0	105.0	107.0					11																	68315555		2200	4294	6494	-	-	-	SO:0001819	synonymous_variant	0			AF264779	CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1	11q13	2012-04-17	2010-06-28	2010-06-28	ENSG00000110075	ENSG00000110075		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	1173	protein-coding gene	gene with protein product	"""sporulation-induced transcript 4-associated protein"""	610879	"""chromosome 11 open reading frame 23"", ""SAPS domain family, member 3"""	C11orf23, SAPS3		11401438, 16769727	Standard	NM_018312		Approved	SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712	uc001onv.3	Q5H9R7		ENST00000393800.2:c.435G>A	11.37:g.68315555G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Silent	SNP	pfam_SAPS,superfamily_ARM-type_fold	p.K145	ENST00000393800.2	37	c.435	CCDS53672.1	11																																																																																			PPP6R3	-	pfam_SAPS,superfamily_ARM-type_fold	ENSG00000110075		0.393	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP6R3	HGNC	protein_coding	OTTHUMT00000395275.1	133	0.00	0	G	NM_018312		68315555	68315555	+1	no_errors	ENST00000393799	ensembl	human	known	69_37n	silent	151	26.34	54	SNP	1.000	A
PPRC1	23082	genome.wustl.edu	37	10	103906590	103906590	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:103906590G>T	ENST00000278070.2	+	9	3880	c.3841G>T	c.(3841-3843)Gaa>Taa	p.E1281*	PPRC1_ENST00000370012.1_Nonsense_Mutation_p.E248*|PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000489648.1_Intron	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1281					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TCGCCTCCAAGAAGGGGTCCA	0.582																																						dbGAP											0													87.0	75.0	79.0					10																	103906590		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.3841G>T	10.37:g.103906590G>T	ENSP00000278070:p.Glu1281*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Nonsense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.E1281*	ENST00000278070.2	37	c.3841	CCDS7529.1	10	.	.	.	.	.	.	.	.	.	.	G	41	8.748314	0.98939	.	.	ENSG00000148840	ENST00000278070;ENST00000370012	.	.	.	5.46	5.46	0.80206	.	1.062860	0.07143	N	0.847642	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	.	16.4678	0.84090	0.0:0.0:1.0:0.0	.	.	.	.	X	1281;248	.	ENSP00000278070:E1281X	E	+	1	0	PPRC1	103896580	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.361000	0.73070	2.562000	0.86427	0.462000	0.41574	GAA	PPRC1	-	NULL	ENSG00000148840		0.582	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPRC1	HGNC	protein_coding	OTTHUMT00000050021.1	59	0.00	0	G	NM_015062		103906590	103906590	+1	no_errors	ENST00000278070	ensembl	human	known	69_37n	nonsense	27	40.00	18	SNP	1.000	T
PRAMEF1	65121	genome.wustl.edu	37	1	12856020	12856020	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:12856020C>T	ENST00000332296.7	+	4	1403	c.1300C>T	c.(1300-1302)Cgg>Tgg	p.R434W	PRAMEF1_ENST00000400814.3_Missense_Mutation_p.R189W	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	434					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CACCCCACTTCGGGCTGAGCT	0.562																																						dbGAP											0													152.0	154.0	153.0					1																	12856020		2203	4299	6502	-	-	-	SO:0001583	missense	0			AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"""-"""	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.1300C>T	1.37:g.12856020C>T	ENSP00000332134:p.Arg434Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UQP2	Missense_Mutation	SNP	NULL	p.R434W	ENST00000332296.7	37	c.1300	CCDS148.1	1	.	.	.	.	.	.	.	.	.	.	.	2.898	-0.228058	0.06022	.	.	ENSG00000116721	ENST00000332296;ENST00000400814	T;T	0.49720	0.77;0.77	1.55	-3.1	0.05315	.	1.049970	0.07620	N	0.926839	T	0.38081	0.1027	L	0.60455	1.87	0.09310	N	1	B	0.18310	0.027	B	0.16722	0.016	T	0.34675	-0.9819	10	0.66056	D	0.02	.	2.2752	0.04101	0.4108:0.2378:0.0:0.3513	.	434	O95521	PRAM1_HUMAN	W	434;189	ENSP00000332134:R434W;ENSP00000383616:R189W	ENSP00000332134:R434W	R	+	1	2	PRAMEF1	12778607	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.845000	0.01677	-1.463000	0.01904	-1.152000	0.01820	CGG	PRAMEF1	-	NULL	ENSG00000116721		0.562	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF1	HGNC	protein_coding	OTTHUMT00000005458.1	168	0.00	0	C	NM_023013		12856020	12856020	+1	no_errors	ENST00000332296	ensembl	human	known	69_37n	missense	162	11.48	21	SNP	0.000	T
PRAMEF4	400735	genome.wustl.edu	37	1	12939863	12939863	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:12939863C>G	ENST00000235349.5	-	4	1009	c.939G>C	c.(937-939)ttG>ttC	p.L313F		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	313					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATAGATGCTTCAAGTCTGATT	0.463																																						dbGAP											0													39.0	54.0	49.0					1																	12939863		1383	2623	4006	-	-	-	SO:0001583	missense	0				CCDS30592.1	1p36.21	2013-01-17			ENSG00000243073	ENSG00000243073		"""-"""	31971	protein-coding gene	gene with protein product							Standard	NM_001009611		Approved	RP5-845O24.6	uc001aun.2	O60810	OTTHUMG00000001987	ENST00000235349.5:c.939G>C	1.37:g.12939863C>G	ENSP00000235349:p.Leu313Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5LJB5	Missense_Mutation	SNP	NULL	p.L313F	ENST00000235349.5	37	c.939	CCDS30592.1	1	.	.	.	.	.	.	.	.	.	.	c	10.43	1.346825	0.24426	.	.	ENSG00000243073	ENST00000235349	T	0.11495	2.77	1.48	0.539	0.17156	.	0.333388	0.23260	N	0.050157	T	0.23133	0.0559	M	0.71581	2.175	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.04467	-1.0949	10	0.45353	T	0.12	.	3.7756	0.08659	0.0:0.7551:0.0:0.2449	.	313	O60810	PRAM4_HUMAN	F	313	ENSP00000235349:L313F	ENSP00000235349:L313F	L	-	3	2	PRAMEF4	12862450	0.003000	0.15002	0.000000	0.03702	0.001000	0.01503	0.419000	0.21247	0.196000	0.20367	0.400000	0.26472	TTG	PRAMEF4	-	NULL	ENSG00000243073		0.463	PRAMEF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF4	HGNC	protein_coding	OTTHUMT00000005518.1	164	0.00	0	C	NM_001009611		12939863	12939863	-1	no_errors	ENST00000235349	ensembl	human	known	69_37n	missense	131	22.02	37	SNP	0.001	G
PRAMEF13	400736	genome.wustl.edu	37	1	13448422	13448422	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:13448422G>C	ENST00000376132.3	-	4	1155	c.1053C>G	c.(1051-1053)ctC>ctG	p.L351L		NM_001024661.1	NP_001019832.1	Q5VWM6	PRA13_HUMAN	PRAME family member 13	351					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(1)|large_intestine(1)|lung(3)|skin(2)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;9.86e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|COAD - Colon adenocarcinoma(227;0.000502)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGAGGGTTTCGAGAGAGGCAG	0.547																																						dbGAP											0													9.0	9.0	9.0					1																	13448422		2015	4148	6163	-	-	-	SO:0001819	synonymous_variant	0					1p36.21	2013-01-17			ENSG00000204495			"""-"""	13262	protein-coding gene	gene with protein product							Standard	NG_005159		Approved	OTTHUMG00000008034	uc010obi.1	Q5VWM6	OTTHUMG00000008034	ENST00000376132.3:c.1053C>G	1.37:g.13448422G>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.L351	ENST00000376132.3	37	c.1053	CCDS41257.1	1																																																																																			PRAMEF13	-	NULL	ENSG00000204495		0.547	PRAMEF13-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	PRAMEF13	HGNC	protein_coding	OTTHUMT00000022040.1	43	0.00	0	G	XM_375688		13448422	13448422	-1	no_errors	ENST00000376132	ensembl	human	known	69_37n	silent	57	10.94	7	SNP	0.002	C
PRB1	5542	genome.wustl.edu	37	12	11507489	11507489	+	Splice_Site	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:11507489C>G	ENST00000500254.2	-	2	102		c.e2-1		PRB1_ENST00000546254.1_Intron|PRB1_ENST00000545626.1_Splice_Site	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1							extracellular region (GO:0005576)		p.?(1)		NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGGCTGACATCTAGAAGAGAA	0.438																																						dbGAP											1	Unknown(1)	large_intestine(1)											186.0	175.0	179.0					12																	11507489		2179	4277	6456	-	-	-	SO:0001630	splice_region_variant	0				CCDS8642.1, CCDS55805.1	12p13.2	2012-10-02							9337	protein-coding gene	gene with protein product		180989				8317492	Standard	NM_199353		Approved	PM, PMF, PMS, PRB1M, PRB1L	uc001qzu.1	P04280		ENST00000500254.2:c.65-1G>C	12.37:g.11507489C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	Splice_Site	SNP	-	e2-1	ENST00000500254.2	37	c.65-1	CCDS8642.1	12	.	.	.	.	.	.	.	.	.	.	C	3.394	-0.123589	0.06795	.	.	ENSG00000251655	ENST00000545626;ENST00000500254	.	.	.	1.7	1.7	0.24286	.	.	.	.	.	.	.	.	.	.	.	0.22127	N	0.999342	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.9445	0.24510	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRB1	11398756	0.346000	0.24844	0.098000	0.21074	0.006000	0.05464	1.273000	0.33121	1.265000	0.44215	0.558000	0.71614	.	PRB1	-	-	ENSG00000251655		0.438	PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRB1	HGNC	protein_coding	OTTHUMT00000402312.1	153	0.00	0	C	NM_005039	Intron	11507489	11507489	-1	no_errors	ENST00000500254	ensembl	human	known	69_37n	splice_site	94	20.34	24	SNP	0.155	G
PRDM1	639	genome.wustl.edu	37	6	106552744	106552744	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:106552744G>A	ENST00000369096.4	+	5	943	c.709G>A	c.(709-711)Gaa>Aaa	p.E237K	PRDM1_ENST00000369091.2_Missense_Mutation_p.E201K|PRDM1_ENST00000369089.3_Missense_Mutation_p.E103K	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	237					cell fate commitment (GO:0045165)|eye photoreceptor cell development (GO:0042462)|germ cell development (GO:0007281)|intestinal epithelial cell development (GO:0060576)|maternal placenta development (GO:0001893)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gene expression (GO:0010628)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		TGAGAAAAATGAACTCTGCCC	0.438			"""D, N, Mis, F, S"""		DLBCL																																	dbGAP		Rec	yes		6	6q21	639	"""PR domain containing 1, with ZNF domain"""		L	0													184.0	196.0	192.0					6																	106552744		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5054.2, CCDS34505.1	6q21	2013-01-08			ENSG00000057657	ENSG00000057657		"""Zinc fingers, C2H2-type"""	9346	protein-coding gene	gene with protein product		603423		BLIMP1		1851123	Standard	NM_001198		Approved	PRDI-BF1	uc003prd.2	O75626	OTTHUMG00000015299	ENST00000369096.4:c.709G>A	6.37:g.106552744G>A	ENSP00000358092:p.Glu237Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2REA6|E1P5E0|Q86WM7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_Znf_PRDM1,pfscan_SET_dom,pfscan_Znf_C2H2	p.E237K	ENST00000369096.4	37	c.709	CCDS5054.2	6	.	.	.	.	.	.	.	.	.	.	G	17.25	3.340826	0.60963	.	.	ENSG00000057657	ENST00000369091;ENST00000369096;ENST00000456278;ENST00000450060;ENST00000369089	T;T;T;T	0.56941	3.25;3.22;0.43;3.24	5.79	5.79	0.91817	.	0.472859	0.23981	N	0.042662	T	0.39886	0.1095	M	0.62723	1.935	0.48571	D	0.999671	B;B	0.29085	0.232;0.011	B;B	0.29176	0.099;0.009	T	0.35276	-0.9795	10	0.45353	T	0.12	-10.2493	14.8236	0.70091	0.0:0.0:0.8562:0.1438	.	103;237	Q86WM7;O75626	.;PRDM1_HUMAN	K	201;237;201;116;103	ENSP00000358087:E201K;ENSP00000358092:E237K;ENSP00000399772:E116K;ENSP00000358085:E103K	ENSP00000358085:E103K	E	+	1	0	PRDM1	106659437	1.000000	0.71417	0.993000	0.49108	0.977000	0.68977	4.083000	0.57643	2.746000	0.94184	0.655000	0.94253	GAA	PRDM1	-	pirsf_Znf_PRDM1	ENSG00000057657		0.438	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM1	HGNC	protein_coding	OTTHUMT00000041661.3	61	0.00	0	G			106552744	106552744	+1	no_errors	ENST00000369096	ensembl	human	known	69_37n	missense	54	27.03	20	SNP	1.000	A
PRDM2	7799	genome.wustl.edu	37	1	14105857	14105857	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:14105857G>C	ENST00000235372.7	+	8	2423	c.1567G>C	c.(1567-1569)Gag>Cag	p.E523Q	PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.E322Q|PRDM2_ENST00000311066.5_Missense_Mutation_p.E523Q|PRDM2_ENST00000343137.4_Missense_Mutation_p.E322Q|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000376048.5_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	523					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)		AGGCCTTGAAGAGCCCCAGCC	0.517																																						dbGAP											0													50.0	54.0	53.0					1																	14105857		2203	4300	6503	-	-	-	SO:0001583	missense	0			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	ENST00000235372.7:c.1567G>C	1.37:g.14105857G>C	ENSP00000235372:p.Glu523Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	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.E523Q	ENST00000235372.7	37	c.1567	CCDS150.1	1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.753420	0.49362	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.01572	4.87;4.76;4.76;4.76	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.08492	0.0211	L	0.55103	1.725	0.43453	D	0.995648	D;P;D;D	0.89917	1.0;0.856;0.986;1.0	D;B;P;D	0.81914	0.989;0.383;0.857;0.995	T	0.18147	-1.0346	10	0.39692	T	0.17	.	18.2252	0.89915	0.0:0.0:1.0:0.0	.	523;381;523;523	A8MW16;Q5THJ0;Q13029;Q13029-2	.;.;PRDM2_HUMAN;.	Q	523;523;523;322;322	ENSP00000235372:E523Q;ENSP00000312352:E523Q;ENSP00000411103:E322Q;ENSP00000341621:E322Q	ENSP00000235372:E523Q	E	+	1	0	PRDM2	13978444	1.000000	0.71417	0.984000	0.44739	0.867000	0.49689	9.476000	0.97823	2.633000	0.89246	0.655000	0.94253	GAG	PRDM2	-	pirsf_RIZ_retinblastoma-bd_prot	ENSG00000116731		0.517	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRDM2	HGNC	protein_coding	OTTHUMT00000021792.2	43	0.00	0	G	NM_012231		14105857	14105857	+1	no_errors	ENST00000235372	ensembl	human	known	69_37n	missense	32	31.91	15	SNP	1.000	C
PRDM2	7799	genome.wustl.edu	37	1	14108961	14108961	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:14108961C>G	ENST00000235372.7	+	8	5527	c.4671C>G	c.(4669-4671)gtC>gtG	p.V1557V	PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Silent_p.V1356V|PRDM2_ENST00000311066.5_Silent_p.V1557V|PRDM2_ENST00000343137.4_Silent_p.V1356V|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000376048.5_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1557					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)		AGCAGAACGTCAAGTTTGCAG	0.517																																						dbGAP											0													65.0	70.0	68.0					1																	14108961		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			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	ENST00000235372.7:c.4671C>G	1.37:g.14108961C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Silent	SNP	pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2	p.V1557	ENST00000235372.7	37	c.4671	CCDS150.1	1																																																																																			PRDM2	-	pirsf_RIZ_retinblastoma-bd_prot	ENSG00000116731		0.517	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRDM2	HGNC	protein_coding	OTTHUMT00000021792.2	26	0.00	0	C	NM_012231		14108961	14108961	+1	no_errors	ENST00000235372	ensembl	human	known	69_37n	silent	24	22.58	7	SNP	0.999	G
PRDM8	56978	genome.wustl.edu	37	4	81123172	81123172	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:81123172G>A	ENST00000504452.1	+	8	1395	c.556G>A	c.(556-558)Gat>Aat	p.D186N	PRDM8_ENST00000339711.4_Missense_Mutation_p.D186N|PRDM8_ENST00000415738.2_Missense_Mutation_p.D186N			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	186					corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						TCACAGCGCTGATATAAGTCC	0.622											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													86.0	94.0	91.0					4																	81123172		2044	4198	6242	-	-	-	SO:0001583	missense	0			AF275815	CCDS43243.1	4q21	2008-08-21				ENSG00000152784			13993	protein-coding gene	gene with protein product							Standard	NM_020226		Approved		uc003hmc.4	Q9NQV8		ENST00000504452.1:c.556G>A	4.37:g.81123172G>A	ENSP00000423985:p.Asp186Asn	Somatic	1203	WXS	Illumina GAIIx	Phase_IV	A8K7X2|Q6IQ36	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D186N	ENST00000504452.1	37	c.556	CCDS43243.1	4	.	.	.	.	.	.	.	.	.	.	G	12.02	1.811584	0.32053	.	.	ENSG00000152784	ENST00000504452;ENST00000515013;ENST00000339711;ENST00000415738	T;T;T;T	0.64085	-0.08;0.49;-0.08;-0.08	4.99	4.15	0.48705	.	0.558730	0.17430	N	0.174510	T	0.49864	0.1582	L	0.29908	0.895	0.29720	N	0.838692	P	0.37525	0.598	B	0.37346	0.247	T	0.43556	-0.9384	10	0.17832	T	0.49	.	14.6981	0.69136	0.0:0.0:0.8535:0.1465	.	186	Q9NQV8	PRDM8_HUMAN	N	186	ENSP00000423985:D186N;ENSP00000425149:D186N;ENSP00000339764:D186N;ENSP00000406998:D186N	ENSP00000339764:D186N	D	+	1	0	PRDM8	81342196	0.928000	0.31464	0.064000	0.19789	0.031000	0.12232	1.871000	0.39539	1.347000	0.45714	-0.678000	0.03780	GAT	PRDM8	-	NULL	ENSG00000152784		0.622	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRDM8	HGNC	protein_coding	OTTHUMT00000362793.1	38	0.00	0	G			81123172	81123172	+1	no_errors	ENST00000339711	ensembl	human	known	69_37n	missense	23	17.86	5	SNP	0.647	A
PRDM9	56979	genome.wustl.edu	37	5	23527069	23527069	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:23527069C>T	ENST00000296682.3	+	11	2054	c.1872C>T	c.(1870-1872)ctC>ctT	p.L624L		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	624					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CAGTCCTCCTCACTCACCAGA	0.617										HNSCC(3;0.000094)																												dbGAP											0													12.0	13.0	13.0					5																	23527069		1568	3421	4989	-	-	-	SO:0001819	synonymous_variant	0			AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1872C>T	5.37:g.23527069C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DX22|Q27Q50	Silent	SNP	pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.L624	ENST00000296682.3	37	c.1872	CCDS43307.1	5																																																																																			PRDM9	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000164256		0.617	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM9	HGNC	protein_coding	OTTHUMT00000366375.1	66	0.00	0	C	NM_020227		23527069	23527069	+1	no_errors	ENST00000296682	ensembl	human	known	69_37n	silent	31	23.81	10	SNP	0.001	T
PRDM9	56979	genome.wustl.edu	37	5	23527741	23527741	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:23527741C>T	ENST00000296682.3	+	11	2726	c.2544C>T	c.(2542-2544)ctC>ctT	p.L848L		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	848					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CACACCTCCTCAGACACCAGA	0.577										HNSCC(3;0.000094)																												dbGAP											0													68.0	76.0	73.0					5																	23527741		2187	4294	6481	-	-	-	SO:0001819	synonymous_variant	0			AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.2544C>T	5.37:g.23527741C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DX22|Q27Q50	Silent	SNP	pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.L848	ENST00000296682.3	37	c.2544	CCDS43307.1	5																																																																																			PRDM9	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000164256		0.577	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM9	HGNC	protein_coding	OTTHUMT00000366375.1	79	0.00	0	C	NM_020227		23527741	23527741	+1	no_errors	ENST00000296682	ensembl	human	known	69_37n	silent	39	48.68	37	SNP	0.000	T
PRDM9	56979	genome.wustl.edu	37	5	23527874	23527874	+	Missense_Mutation	SNP	G	G	C	rs574139716		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:23527874G>C	ENST00000296682.3	+	11	2859	c.2677G>C	c.(2677-2679)Gat>Cat	p.D893H		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	893					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CTGCAGGGAGGATGAGTAAGT	0.522										HNSCC(3;0.000094)																												dbGAP											0													50.0	57.0	55.0					5																	23527874		2160	4285	6445	-	-	-	SO:0001583	missense	0			AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.2677G>C	5.37:g.23527874G>C	ENSP00000296682:p.Asp893His	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DX22|Q27Q50	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.D893H	ENST00000296682.3	37	c.2677	CCDS43307.1	5	.	.	.	.	.	.	.	.	.	.	G	7.225	0.598078	0.13939	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.08984	3.03	1.96	-3.92	0.04155	.	.	.	.	.	T	0.03136	0.0092	N	0.04508	-0.205	0.19300	N	0.999973	B	0.13145	0.007	B	0.11329	0.006	T	0.41233	-0.9520	9	0.72032	D	0.01	2.5733	3.0096	0.06040	0.3085:0.0:0.2184:0.4732	.	893	Q9NQV7	PRDM9_HUMAN	H	893;407	ENSP00000296682:D893H	ENSP00000253473:D407H	D	+	1	0	PRDM9	23563631	0.264000	0.24093	0.000000	0.03702	0.011000	0.07611	0.974000	0.29436	-0.886000	0.03966	0.423000	0.28283	GAT	PRDM9	-	NULL	ENSG00000164256		0.522	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM9	HGNC	protein_coding	OTTHUMT00000366375.1	47	0.00	0	G	NM_020227		23527874	23527874	+1	no_errors	ENST00000296682	ensembl	human	known	69_37n	missense	37	28.85	15	SNP	0.587	C
PREB	10113	genome.wustl.edu	37	2	27356068	27356068	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:27356068G>C	ENST00000260643.2	-	3	716	c.463C>G	c.(463-465)Cca>Gca	p.P155A	PREB_ENST00000416802.1_5'UTR|PREB_ENST00000406567.3_Missense_Mutation_p.P155A	NM_013388.4	NP_037520.1	Q9HCU5	PREB_HUMAN	prolactin regulatory element binding	155					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|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)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCTGCAGTGGATCGGAGCTA	0.542																																						dbGAP											0													277.0	289.0	285.0					2																	27356068		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1738.1	2p23	2013-01-10			ENSG00000138073	ENSG00000138073		"""WD repeat domain containing"""	9356	protein-coding gene	gene with protein product		606395				10194769, 12735795	Standard	NM_013388		Approved	SEC12	uc002rix.1	Q9HCU5	OTTHUMG00000097076	ENST00000260643.2:c.463C>G	2.37:g.27356068G>C	ENSP00000260643:p.Pro155Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53SZ8|Q9UH94	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P155A	ENST00000260643.2	37	c.463	CCDS1738.1	2	.	.	.	.	.	.	.	.	.	.	G	12.81	2.048184	0.36181	.	.	ENSG00000138073	ENST00000260643;ENST00000406567;ENST00000546336	T;T	0.80033	1.68;-1.33	5.84	3.96	0.45880	.	0.159357	0.56097	N	0.000024	T	0.71745	0.3376	M	0.64567	1.98	0.49483	D	0.999796	B;P	0.39665	0.321;0.682	B;B	0.31390	0.09;0.129	T	0.66344	-0.5947	10	0.27785	T	0.31	-1.4465	8.8388	0.35129	0.0:0.1472:0.5487:0.3041	.	155;155	B5MC98;Q9HCU5	.;PREB_HUMAN	A	155	ENSP00000260643:P155A;ENSP00000384032:P155A	ENSP00000260643:P155A	P	-	1	0	PREB	27209572	0.981000	0.34729	0.669000	0.29828	0.933000	0.57130	1.607000	0.36836	0.745000	0.32763	0.561000	0.74099	CCA	PREB	-	smart_WD40_repeat	ENSG00000138073		0.542	PREB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREB	HGNC	protein_coding	OTTHUMT00000214195.1	157	0.00	0	G	NM_013388		27356068	27356068	-1	no_errors	ENST00000260643	ensembl	human	known	69_37n	missense	123	26.79	45	SNP	0.991	C
PRELID1	27166	genome.wustl.edu	37	5	176733425	176733425	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:176733425G>A	ENST00000303204.4	+	5	726	c.514G>A	c.(514-516)Gag>Aag	p.E172K	MXD3_ENST00000427908.2_3'UTR|PRELID1_ENST00000503216.1_Intron|RAB24_ENST00000303270.6_5'Flank|RAB24_ENST00000393611.2_5'Flank|RAB24_ENST00000303251.6_5'Flank			Q9Y255	PRLD1_HUMAN	PRELI domain containing 1	172	PRELI/MSF1. {ECO:0000255|PROSITE- ProRule:PRU00158}.				apoptotic process (GO:0006915)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mitochondrial membrane potential (GO:0010917)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|phospholipid transport (GO:0015914)|positive regulation of cellular respiration (GO:1901857)|positive regulation of endopeptidase activity (GO:0010950)|positive regulation of phospholipid transport (GO:2001140)|positive regulation of T cell apoptotic process (GO:0070234)|regulation of membrane lipid distribution (GO:0097035)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of T cell differentiation (GO:0045580)	mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)				endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	7	all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGCGACAGGCGAGGCCCCTTC	0.577																																						dbGAP											0													27.0	27.0	27.0					5																	176733425		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC013748	CCDS4415.1, CCDS64328.1	5q35.3	2010-01-18			ENSG00000169230	ENSG00000169230			30255	protein-coding gene	gene with protein product	"""protein of relevant evolutionary and lymphoid interest"", ""px19-like protein"""	605733				10784606, 14640972	Standard	NM_013237		Approved	CGI-106, PX19, PRELI	uc003mfx.4	Q9Y255	OTTHUMG00000130847	ENST00000303204.4:c.514G>A	5.37:g.176733425G>A	ENSP00000302114:p.Glu172Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5F7|D6RD25|Q549N2|Q9UI13|Q9UJS9	Missense_Mutation	SNP	pfam_PRELI/MSF1,pfscan_PRELI/MSF1	p.E172K	ENST00000303204.4	37	c.514	CCDS4415.1	5	.	.	.	.	.	.	.	.	.	.	G	13.44	2.238680	0.39598	.	.	ENSG00000169230	ENST00000303204;ENST00000503853	T	0.19806	2.12	4.79	4.79	0.61399	PRELI/MSF1 (1);	0.052767	0.85682	D	0.000000	T	0.24122	0.0584	L	0.56769	1.78	0.80722	D	1	B	0.21309	0.054	B	0.15484	0.013	T	0.04053	-1.0981	10	0.25106	T	0.35	-6.0582	18.0274	0.89273	0.0:0.0:1.0:0.0	.	172	Q9Y255	PRLD1_HUMAN	K	172;140	ENSP00000302114:E172K	ENSP00000302114:E172K	E	+	1	0	PRELID1	176666031	1.000000	0.71417	0.998000	0.56505	0.384000	0.30261	8.746000	0.91604	2.469000	0.83416	0.561000	0.74099	GAG	PRELID1	-	pfscan_PRELI/MSF1	ENSG00000169230		0.577	PRELID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRELID1	HGNC	protein_coding	OTTHUMT00000253414.1	47	0.00	0	G	NM_013237		176733425	176733425	+1	no_errors	ENST00000303204	ensembl	human	known	69_37n	missense	28	20.00	7	SNP	1.000	A
PRELID1P1	728666	genome.wustl.edu	37	6	126964865	126964865	+	RNA	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:126964865C>T	ENST00000567272.1	+	0	232									PRELI domain containing 1 pseudogene 1																		CAGCGGTACCCGAATCCCTAT	0.592																																						dbGAP											0																																										-	-	-			0					6q22.32	2012-04-23			ENSG00000217325	ENSG00000217325			43886	pseudogene	pseudogene							Standard	NG_022903		Approved				OTTHUMG00000015520		6.37:g.126964865C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000567272.1	37	NULL		6																																																																																			PRELID1P1	-	-	ENSG00000217325		0.592	PRELID1P1-002	KNOWN	basic	processed_transcript	PRELID1P1	HGNC	pseudogene	OTTHUMT00000436205.1	46	0.00	0	C	NG_022903		126964865	126964865	+1	no_errors	ENST00000567272	ensembl	human	known	69_37n	rna	33	25.00	11	SNP	0.192	T
PREX2	80243	genome.wustl.edu	37	8	69104691	69104691	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:69104691C>T	ENST00000288368.4	+	37	4812	c.4535C>T	c.(4534-4536)tCa>tTa	p.S1512L		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1512					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GGACTGCTGTCAGTTTCCTCG	0.562																																						dbGAP											0													68.0	55.0	60.0					8																	69104691		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.4535C>T	8.37:g.69104691C>T	ENSP00000288368:p.Ser1512Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.S1512L	ENST00000288368.4	37	c.4535	CCDS6201.1	8	.	.	.	.	.	.	.	.	.	.	C	16.69	3.193535	0.58017	.	.	ENSG00000046889	ENST00000288368	T	0.59224	0.28	4.89	4.89	0.63831	.	0.080287	0.52532	D	0.000069	T	0.48187	0.1486	L	0.27053	0.805	0.58432	D	0.999999	B	0.06786	0.001	B	0.08055	0.003	T	0.43228	-0.9404	10	0.52906	T	0.07	.	18.4181	0.90577	0.0:1.0:0.0:0.0	.	1512	Q70Z35	PREX2_HUMAN	L	1512	ENSP00000288368:S1512L	ENSP00000288368:S1512L	S	+	2	0	PREX2	69267245	0.999000	0.42202	0.943000	0.38184	0.912000	0.54170	4.487000	0.60293	2.427000	0.82271	0.467000	0.42956	TCA	PREX2	-	NULL	ENSG00000046889		0.562	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREX2	HGNC	protein_coding	OTTHUMT00000378620.1	41	0.00	0	C	NM_025170		69104691	69104691	+1	no_errors	ENST00000288368	ensembl	human	known	69_37n	missense	34	35.85	19	SNP	1.000	T
HELZ2	85441	genome.wustl.edu	37	20	62193004	62193004	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:62193004C>G	ENST00000467148.1	-	12	6855	c.6786G>C	c.(6784-6786)agG>agC	p.R2262S	HELZ2_ENST00000427522.2_Missense_Mutation_p.R1693S	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	2262	Interaction with THRAP3.				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)										TGAGCAGCTTCCTGCTGCCCA	0.662																																						dbGAP											0													47.0	54.0	51.0					20																	62193004		2203	4298	6501	-	-	-	SO:0001583	missense	0			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.6786G>C	20.37:g.62193004C>G	ENSP00000417401:p.Arg2262Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	pfam_RNase_II/R,smart_RNase_II/R	p.R2262S	ENST00000467148.1	37	c.6786	CCDS33508.1	20	.	.	.	.	.	.	.	.	.	.	C	4.447	0.082773	0.08533	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	D;D	0.81996	-1.56;-1.56	4.49	-3.66	0.04489	ATPase, AAA+ type, core (1);	0.896314	0.09689	N	0.768610	T	0.69441	0.3111	L	0.39566	1.225	0.09310	N	1	B;B	0.15141	0.009;0.012	B;B	0.16722	0.016;0.009	T	0.53655	-0.8408	10	0.34782	T	0.22	-9.9782	2.8772	0.05635	0.111:0.3875:0.1097:0.3918	.	2262;1693	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	S	1693;2262	ENSP00000393257:R1693S;ENSP00000417401:R2262S	ENSP00000393257:R1693S	R	-	3	2	RP4-697K14.7	61663448	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.010000	0.12743	-0.567000	0.06046	-0.500000	0.04577	AGG	RP4-697K14.7	-	NULL	ENSG00000130589		0.662	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PRIC285	Clone_based_vega_gene	protein_coding	OTTHUMT00000354127.1	9	0.00	0	C	NM_001037335		62193004	62193004	-1	no_errors	ENST00000467148	ensembl	human	known	69_37n	missense	16	30.43	7	SNP	0.000	G
HELZ2	85441	genome.wustl.edu	37	20	62197421	62197421	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:62197421G>C	ENST00000467148.1	-	8	2823	c.2754C>G	c.(2752-2754)ctC>ctG	p.L918L	HELZ2_ENST00000427522.2_Silent_p.L349L	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	918	Interaction with THRAP3.				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)										CGAAGGAGCAGAGGGCCACGG	0.692																																						dbGAP											0													14.0	16.0	15.0					20																	62197421		2172	4279	6451	-	-	-	SO:0001819	synonymous_variant	0			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.2754C>G	20.37:g.62197421G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	pfam_RNase_II/R,smart_RNase_II/R	p.L918	ENST00000467148.1	37	c.2754	CCDS33508.1	20																																																																																			RP4-697K14.7	-	NULL	ENSG00000130589		0.692	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PRIC285	Clone_based_vega_gene	protein_coding	OTTHUMT00000354127.1	12	0.00	0	G	NM_001037335		62197421	62197421	-1	no_errors	ENST00000467148	ensembl	human	known	69_37n	silent	8	33.33	4	SNP	0.985	C
PRKACG	5568	genome.wustl.edu	37	9	71628914	71628914	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:71628914C>T	ENST00000377276.2	-	1	125	c.95G>A	c.(94-96)gGa>gAa	p.G32E		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	32					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|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)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|male gonad development (GO:0008584)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	cytosol (GO:0005829)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						AGCGGGGTTTCCCCATCTGTA	0.622																																					Esophageal Squamous(110;2236 2623 32146)	dbGAP											0													71.0	74.0	73.0					9																	71628914		2203	4300	6503	-	-	-	SO:0001583	missense	0			M34182	CCDS6625.1	9q13	2012-10-02			ENSG00000165059	ENSG00000165059	2.7.11.1		9382	protein-coding gene	gene with protein product		176893				2342480, 9598317	Standard	NM_002732		Approved	PKACg	uc004agy.3	P22612	OTTHUMG00000019974	ENST00000377276.2:c.95G>A	9.37:g.71628914C>T	ENSP00000366488:p.Gly32Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	O60850|Q5VZ02|Q86YI1	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,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G32E	ENST00000377276.2	37	c.95	CCDS6625.1	9	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.719854	0.00700	.	.	ENSG00000165059	ENST00000377276	T	0.65732	-0.17	1.03	-2.07	0.07276	Protein kinase-like domain (1);	0.319446	0.16188	N	0.225527	T	0.17195	0.0413	N	0.00399	-1.545	0.27685	N	0.946305	B	0.02656	0.0	B	0.01281	0.0	T	0.34650	-0.9820	10	0.02654	T	1	.	4.5459	0.12081	0.0:0.5089:0.0:0.4911	.	32	P22612	KAPCG_HUMAN	E	32	ENSP00000366488:G32E	ENSP00000366488:G32E	G	-	2	0	PRKACG	70818734	0.903000	0.30736	0.003000	0.11579	0.003000	0.03518	1.291000	0.33330	-0.657000	0.05373	-0.670000	0.03821	GGA	PRKACG	-	superfamily_Kinase-like_dom	ENSG00000165059		0.622	PRKACG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKACG	HGNC	protein_coding	OTTHUMT00000052559.1	78	0.00	0	C			71628914	71628914	-1	no_errors	ENST00000377276	ensembl	human	known	69_37n	missense	72	20.88	19	SNP	0.995	T
PRKAR1A	5573	genome.wustl.edu	37	17	66518949	66518949	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:66518949C>T	ENST00000589228.1	+	3	358	c.230C>T	c.(229-231)tCa>tTa	p.S77L	PRKAR1A_ENST00000586397.1_Missense_Mutation_p.S77L|PRKAR1A_ENST00000588188.2_Missense_Mutation_p.S77L|PRKAR1A_ENST00000358598.2_Missense_Mutation_p.S77L|PRKAR1A_ENST00000536854.2_Missense_Mutation_p.S77L|PRKAR1A_ENST00000392711.1_Missense_Mutation_p.S77L	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	77	Dimerization and phosphorylation.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cardiac muscle cell proliferation (GO:0060038)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|female meiotic division (GO:0007143)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sarcomere organization (GO:0045214)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)	p.S77*(2)		adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					CGTACAGACTCAAGGGAGGAT	0.498			"""T, Mis, N, F, S"""	RET	papillary thyroid	"""myxoma, endocrine, papillary thyroid"""			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of																												Ovarian(167;637 1670 33025 39608 46699 51856)	dbGAP	yes	"""Dom, Rec"""	yes	Carney complex	17	17q23-q24	5573	"""protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1)"""		"""E, M"""	2	Substitution - Nonsense(2)	large_intestine(1)|lung(1)											84.0	81.0	82.0					17																	66518949		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2;Carney syndrome, NAME syndrome, LAMB syndrome, Familial Myxoma syndrome;		CCDS11678.1, CCDS62307.1	17q24.2	2014-09-17	2012-07-31		ENSG00000108946	ENSG00000108946	2.7.11.1		9388	protein-coding gene	gene with protein product	"""Carney complex type 1"""	188830	"""tissue specific extinguisher 1"""	PRKAR1, TSE1		3479018, 10973256	Standard	NM_212471		Approved	CNC1	uc002jhg.4	P10644	OTTHUMG00000180128	ENST00000589228.1:c.230C>T	17.37:g.66518949C>T	ENSP00000464977:p.Ser77Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	K7ER48|Q567S7	Nonsense_Mutation	SNP	pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b	p.Q74*	ENST00000589228.1	37	c.220	CCDS11678.1	17	.	.	.	.	.	.	.	.	.	.	C	21.2	4.106348	0.77096	.	.	ENSG00000108946	ENST00000358598;ENST00000392711;ENST00000392710;ENST00000536854	D;D;D	0.87729	-2.29;-2.29;-2.29	5.96	5.96	0.96718	.	0.055972	0.85682	D	0.000000	D	0.87920	0.6299	M	0.71581	2.175	0.80722	D	1	B;B	0.12013	0.005;0.005	B;B	0.11329	0.006;0.006	T	0.82645	-0.0355	10	0.46703	T	0.11	-23.3383	20.3866	0.98944	0.0:1.0:0.0:0.0	.	77;77	B2R5T5;P10644	.;KAP0_HUMAN	L	77	ENSP00000351410:S77L;ENSP00000376475:S77L;ENSP00000445625:S77L	ENSP00000351410:S77L	S	+	2	0	PRKAR1A	64030544	1.000000	0.71417	0.961000	0.40146	0.861000	0.49209	7.818000	0.86416	2.826000	0.97356	0.650000	0.86243	TCA	PRKAR1A	-	NULL	ENSG00000108946		0.498	PRKAR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKAR1A	HGNC	protein_coding	OTTHUMT00000449884.1	43	0.00	0	C			66518949	66518949	+1	no_errors	ENST00000392710	ensembl	human	known	69_37n	nonsense	50	20.63	13	SNP	1.000	T
PRKCB	5579	genome.wustl.edu	37	16	24202522	24202522	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:24202522G>C	ENST00000321728.7	+	16	2009	c.1834G>C	c.(1834-1836)Gag>Cag	p.E612Q	PRKCB_ENST00000303531.7_Missense_Mutation_p.E612Q	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	612	AGC-kinase C-terminal.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	TGAACGCAAAGAGATCCAGCC	0.473																																						dbGAP											0													122.0	124.0	123.0					16																	24202522		2197	4300	6497	-	-	-	SO:0001583	missense	0			M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.1834G>C	16.37:g.24202522G>C	ENSP00000318315:p.Glu612Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_Ca-dep,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,prints_DAG/PE-bd,prints_C2_dom,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.E612Q	ENST00000321728.7	37	c.1834	CCDS10618.1	16	.	.	.	.	.	.	.	.	.	.	G	18.47	3.630243	0.67015	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	T;T	0.47177	0.85;0.85	5.58	5.58	0.84498	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.258675	0.36200	N	0.002739	T	0.40619	0.1124	N	0.20610	0.595	0.58432	D	0.999997	P;P	0.35401	0.491;0.499	B;B	0.40940	0.344;0.186	T	0.25328	-1.0135	10	0.35671	T	0.21	.	17.0713	0.86574	0.0:0.0:1.0:0.0	.	612;612	P05771-2;P05771	.;KPCB_HUMAN	Q	612	ENSP00000318315:E612Q;ENSP00000305355:E612Q	ENSP00000305355:E612Q	E	+	1	0	PRKCB	24110023	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.639000	0.83342	2.634000	0.89283	0.650000	0.86243	GAG	PRKCB	-	superfamily_Kinase-like_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g	ENSG00000166501		0.473	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCB	HGNC	protein_coding	OTTHUMT00000254504.2	98	0.00	0	G	NM_212535		24202522	24202522	+1	no_errors	ENST00000303531	ensembl	human	known	69_37n	missense	71	25.26	24	SNP	1.000	C
PRKCQ	5588	genome.wustl.edu	37	10	6540497	6540497	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:6540497C>G	ENST00000263125.5	-	5	502	c.403G>C	c.(403-405)Gag>Cag	p.E135Q	PRKCQ_ENST00000397176.2_Missense_Mutation_p.E135Q|PRKCQ_ENST00000539722.1_Missense_Mutation_p.E10Q	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	135					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of T cell apoptotic process (GO:0070233)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of T-helper 2 cell activation (GO:2000570)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of transcription, DNA-templated (GO:0006355)|rhodopsin mediated signaling pathway (GO:0016056)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45					Tamoxifen(DB00675)	CCTTCCGTCTCAAATTCATTC	0.522																																					Ovarian(50;572 1126 10530 25349 30594)	dbGAP											0													149.0	127.0	134.0					10																	6540497		2203	4300	6503	-	-	-	SO:0001583	missense	0			L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	2.7.11.1		9410	protein-coding gene	gene with protein product		600448				8444877	Standard	NM_001282645		Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.403G>C	10.37:g.6540497C>G	ENSP00000263125:p.Glu135Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,prints_DAG/PE-bd,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.E135Q	ENST00000263125.5	37	c.403	CCDS7079.1	10	.	.	.	.	.	.	.	.	.	.	C	13.42	2.230984	0.39399	.	.	ENSG00000065675	ENST00000263125;ENST00000397176;ENST00000539722	T;T;T	0.69685	-0.39;-0.34;-0.42	5.62	5.62	0.85841	.	0.108239	0.64402	D	0.000008	T	0.62319	0.2418	L	0.39147	1.195	0.58432	D	0.999992	B;B;B	0.21905	0.027;0.059;0.062	B;B;B	0.24701	0.021;0.055;0.019	T	0.55872	-0.8072	10	0.33141	T	0.24	.	19.6768	0.95939	0.0:1.0:0.0:0.0	.	10;135;135	B4DF52;Q04759-2;Q04759	.;.;KPCT_HUMAN	Q	135;135;10	ENSP00000263125:E135Q;ENSP00000380361:E135Q;ENSP00000441752:E10Q	ENSP00000263125:E135Q	E	-	1	0	PRKCQ	6580503	.	.	0.954000	0.39281	0.031000	0.12232	.	.	2.634000	0.89283	0.655000	0.94253	GAG	PRKCQ	-	pirsf_Prot_kin_PKC_delta	ENSG00000065675		0.522	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCQ	HGNC	protein_coding	OTTHUMT00000046665.1	140	0.00	0	C	NM_006257		6540497	6540497	-1	no_errors	ENST00000263125	ensembl	human	known	69_37n	missense	108	25.52	37	SNP	1.000	G
PRKD3	23683	genome.wustl.edu	37	2	37516622	37516622	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:37516622G>C	ENST00000379066.1	-	5	1356	c.594C>G	c.(592-594)ttC>ttG	p.F198L	PRKD3_ENST00000234179.2_Missense_Mutation_p.F198L			O94806	KPCD3_HUMAN	protein kinase D3	198					intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				TTGGAATCTTGAAGGCACATC	0.348																																					Melanoma(80;621 1355 8613 11814 51767)	dbGAP											0													93.0	90.0	91.0					2																	37516622		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"""Pleckstrin homology (PH) domain containing"""	9408	protein-coding gene	gene with protein product		607077	"""protein kinase C, nu"""	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.594C>G	2.37:g.37516622G>C	ENSP00000368356:p.Phe198Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	D6W587|Q53TR7|Q8NEL8	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,pfam_LipoPS_kinase,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.F198L	ENST00000379066.1	37	c.594	CCDS1789.1	2	.	.	.	.	.	.	.	.	.	.	G	20.7	4.038757	0.75617	.	.	ENSG00000115825	ENST00000379066;ENST00000234179;ENST00000443187	D;D;D	0.92545	-3.06;-3.06;-3.06	5.17	5.17	0.71159	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.000000	0.85682	D	0.000000	D	0.82637	0.5080	N	0.02721	-0.515	0.53688	D	0.999972	B;B	0.32101	0.307;0.356	B;B	0.36922	0.236;0.225	T	0.83074	-0.0141	10	0.42905	T	0.14	-13.3262	13.0565	0.58984	0.077:0.0:0.923:0.0	.	198;198	O94806-2;O94806	.;KPCD3_HUMAN	L	198;198;94	ENSP00000368356:F198L;ENSP00000234179:F198L;ENSP00000401839:F94L	ENSP00000234179:F198L	F	-	3	2	PRKD3	37370126	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.254000	0.51477	2.404000	0.81709	0.655000	0.94253	TTC	PRKD3	-	pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd	ENSG00000115825		0.348	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKD3	HGNC	protein_coding	OTTHUMT00000218570.3	105	0.00	0	G	NM_005813		37516622	37516622	-1	no_errors	ENST00000234179	ensembl	human	known	69_37n	missense	64	25.58	22	SNP	1.000	C
PRKDC	5591	genome.wustl.edu	37	8	48771175	48771175	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:48771175G>A	ENST00000314191.2	-	49	6420	c.6364C>T	c.(6364-6366)Cct>Tct	p.P2122S	PRKDC_ENST00000338368.3_Missense_Mutation_p.P2122S|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2123					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)	ATCCAAGAAGGAAGATCTCTT	0.333								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	dbGAP											0													45.0	42.0	43.0					8																	48771175		1813	4070	5883	-	-	-	SO:0001583	missense	0				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.6364C>T	8.37:g.48771175G>A	ENSP00000313420:p.Pro2122Ser	Somatic		WXS	Illumina GAIIx	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.P2122S	ENST00000314191.2	37	c.6364		8	.	.	.	.	.	.	.	.	.	.	G	19.36	3.812980	0.70912	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.42131	0.98;0.98	5.55	4.68	0.58851	NUC194 (1);Armadillo-type fold (1);	0.060180	0.64402	N	0.000002	T	0.65069	0.2656	M	0.78801	2.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.70396	-0.4883	10	0.87932	D	0	.	13.996	0.64402	0.0729:0.0:0.9271:0.0	.	2122;2123	E7EUY0;P78527	.;PRKDC_HUMAN	S	2122	ENSP00000313420:P2122S;ENSP00000345182:P2122S	ENSP00000313420:P2122S	P	-	1	0	PRKDC	48933728	1.000000	0.71417	1.000000	0.80357	0.631000	0.37964	9.153000	0.94687	1.483000	0.48342	-0.291000	0.09656	CCT	PRKDC	-	pfam_NUC194,superfamily_ARM-type_fold	ENSG00000253729		0.333	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		75	0.00	0	G	NM_001081640		48771175	48771175	-1	no_errors	ENST00000314191	ensembl	human	known	69_37n	missense	59	13.24	9	SNP	1.000	A
PRKDC	5591	genome.wustl.edu	37	8	48792181	48792181	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:48792181G>A	ENST00000314191.2	-	40	5159	c.5103C>T	c.(5101-5103)ctC>ctT	p.L1701L	PRKDC_ENST00000338368.3_Silent_p.L1701L|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1702					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)	TGCCTCCAGTGAGGCTGGTGA	0.498								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	dbGAP											0													30.0	32.0	31.0					8																	48792181		1987	4163	6150	-	-	-	SO:0001819	synonymous_variant	0				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.5103C>T	8.37:g.48792181G>A		Somatic		WXS	Illumina GAIIx	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.L1701	ENST00000314191.2	37	c.5103		8																																																																																			PRKDC	-	superfamily_ARM-type_fold	ENSG00000253729		0.498	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		37	0.00	0	G	NM_001081640		48792181	48792181	-1	no_errors	ENST00000314191	ensembl	human	known	69_37n	silent	35	16.67	7	SNP	0.008	A
PRKDC	5591	genome.wustl.edu	37	8	48811100	48811100	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:48811100C>T	ENST00000314191.2	-	29	3450	c.3394G>A	c.(3394-3396)Gat>Aat	p.D1132N	PRKDC_ENST00000338368.3_Missense_Mutation_p.D1132N|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1132					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)	CATAGGTGATCAATGGCATCA	0.358								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	dbGAP											0													82.0	78.0	79.0					8																	48811100		1873	4106	5979	-	-	-	SO:0001583	missense	0				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.3394G>A	8.37:g.48811100C>T	ENSP00000313420:p.Asp1132Asn	Somatic		WXS	Illumina GAIIx	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.D1132N	ENST00000314191.2	37	c.3394		8	.	.	.	.	.	.	.	.	.	.	C	15.89	2.967095	0.53507	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.63744	-0.06;-0.06	5.46	4.58	0.56647	Armadillo-like helical (1);Armadillo-type fold (1);	0.122273	0.56097	N	0.000032	T	0.51770	0.1694	.	.	.	0.49798	D	0.999826	B;B	0.25390	0.043;0.125	B;B	0.24701	0.037;0.055	T	0.48670	-0.9015	9	0.38643	T	0.18	.	10.814	0.46564	0.0:0.8354:0.0:0.1646	.	1132;1132	E7EUY0;P78527	.;PRKDC_HUMAN	N	1132	ENSP00000313420:D1132N;ENSP00000345182:D1132N	ENSP00000313420:D1132N	D	-	1	0	PRKDC	48973653	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.775000	0.47702	1.300000	0.44818	0.557000	0.71058	GAT	PRKDC	-	superfamily_ARM-type_fold	ENSG00000253729		0.358	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		89	0.00	0	C	NM_001081640		48811100	48811100	-1	no_errors	ENST00000314191	ensembl	human	known	69_37n	missense	73	34.23	38	SNP	1.000	T
PRKG2	5593	genome.wustl.edu	37	4	82027078	82027078	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:82027078G>A	ENST00000395578.1	-	16	2068	c.1952C>T	c.(1951-1953)tCt>tTt	p.S651F	PRKG2_ENST00000545647.1_Missense_Mutation_p.S231F|PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000264399.1_Missense_Mutation_p.S651F|PRKG2_ENST00000418486.2_Missense_Mutation_p.S622F			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	651	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						GTCAACCCCAGAAAAGGGTGG	0.393																																						dbGAP											0													86.0	86.0	86.0					4																	82027078		2203	4300	6503	-	-	-	SO:0001583	missense	0			X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.1952C>T	4.37:g.82027078G>A	ENSP00000378945:p.Ser651Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DMX3|E7EPE6|O00125|O60916	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_cGMP-dependent_protein_kinase,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_cat_dom,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin	p.S651F	ENST00000395578.1	37	c.1952	CCDS3589.1	4	.	.	.	.	.	.	.	.	.	.	g	15.76	2.928175	0.52759	.	.	ENSG00000138669	ENST00000395578;ENST00000264399;ENST00000418486;ENST00000545647	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	5.41	4.51	0.55191	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.326558	0.37483	N	0.002077	T	0.62865	0.2463	N	0.05441	-0.05	0.54753	D	0.999981	P;P	0.52842	0.956;0.791	D;D	0.67382	0.951;0.928	T	0.60234	-0.7303	10	0.18276	T	0.48	-13.7203	15.2314	0.73390	0.0:0.141:0.859:0.0	.	622;651	E7EPE6;Q13237	.;KGP2_HUMAN	F	651;651;622;231	ENSP00000378945:S651F;ENSP00000264399:S651F;ENSP00000389038:S622F;ENSP00000439967:S231F	ENSP00000264399:S651F	S	-	2	0	PRKG2	82246102	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.597000	0.61062	2.553000	0.86117	0.491000	0.48974	TCT	PRKG2	-	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,pirsf_cGMP-dependent_protein_kinase,pfscan_Prot_kinase_cat_dom	ENSG00000138669		0.393	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKG2	HGNC	protein_coding	OTTHUMT00000252639.1	90	0.00	0	G	NM_006259		82027078	82027078	-1	no_errors	ENST00000264399	ensembl	human	known	69_37n	missense	65	23.53	20	SNP	1.000	A
PRKRA	8575	genome.wustl.edu	37	2	179308111	179308111	+	Splice_Site	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:179308111C>G	ENST00000325748.4	-	5	597	c.397G>C	c.(397-399)Gaa>Caa	p.E133Q	PRKRA_ENST00000438687.3_Splice_Site_p.E20Q|PRKRA_ENST00000487082.1_Splice_Site_p.E108Q|PRKRA_ENST00000432031.2_Splice_Site_p.E122Q|PRKRA_ENST00000470200.1_5'Flank	NM_003690.4	NP_003681.1	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double stranded RNA dependent activator	133	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.|Sufficient for self-association and interaction with TARBP2.				cellular response to oxidative stress (GO:0034599)|gene expression (GO:0010467)|immune response (GO:0006955)|middle ear morphogenesis (GO:0042474)|negative regulation of cell proliferation (GO:0008285)|outer ear morphogenesis (GO:0042473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|production of siRNA involved in RNA interference (GO:0030422)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	enzyme activator activity (GO:0008047)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			ATAGCCAATTCCTATAAAATC	0.358																																					Melanoma(200;68 3001 23825 48764)	dbGAP											0													59.0	60.0	59.0					2																	179308111		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF072860	CCDS2279.1, CCDS46460.1, CCDS46461.1	2q31.2	2009-08-25			ENSG00000180228	ENSG00000180228			9438	protein-coding gene	gene with protein product	"""protein activator of the interferon-induced protein kinase"""	603424				9687506, 10336432	Standard	NM_003690		Approved	PACT, RAX, HSD14, DYT16	uc002umf.3	O75569	OTTHUMG00000132576	ENST00000325748.4:c.397-1G>C	2.37:g.179308111C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3I6|Q53G24|Q6X7T5|Q8NDK4	Missense_Mutation	SNP	pfam_Ds-RNA-bd,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd	p.E133Q	ENST00000325748.4	37	c.397	CCDS2279.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.5|22.5	4.299063|4.299063	0.81025|0.81025	.|.	.|.	ENSG00000180228|ENSG00000180228	ENST00000325748;ENST00000438687;ENST00000487082;ENST00000432031|ENST00000457633	T;T;T;T|.	0.80653|.	-1.4;-1.4;-1.4;-1.4|.	5.43|5.43	5.43|5.43	0.79202|0.79202	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78394|0.78394	0.4276|0.4276	M|M	0.83384|0.83384	2.64|2.64	0.47476|0.47476	D|D	0.99943|0.99943	D;D|.	0.89917|.	1.0;0.994|.	D;D|.	0.87578|.	0.998;0.966|.	T|T	0.79780|0.79780	-0.1659|-0.1659	10|6	0.27785|0.48119	T|T	0.31|0.1	.|.	16.1484|16.1484	0.81586|0.81586	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	133;122|.	O75569;O75569-2|.	PRKRA_HUMAN;.|.	Q|C	133;20;108;122|95	ENSP00000318176:E133Q;ENSP00000398980:E20Q;ENSP00000430604:E108Q;ENSP00000393883:E122Q|.	ENSP00000318176:E133Q|ENSP00000408668:W95C	E|W	-|-	1|3	0|0	PRKRA|PRKRA	179016357|179016357	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.847000|0.847000	0.48162|0.48162	4.693000|4.693000	0.61753|0.61753	2.541000|2.541000	0.85698|0.85698	0.655000|0.655000	0.94253|0.94253	GAA|TGG	PRKRA	-	pfam_Ds-RNA-bd,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd	ENSG00000180228		0.358	PRKRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKRA	HGNC	protein_coding	OTTHUMT00000255782.2	87	0.00	0	C	NM_003690	Missense_Mutation	179308111	179308111	-1	no_errors	ENST00000325748	ensembl	human	known	69_37n	missense	59	10.61	7	SNP	1.000	G
PRKX	5613	genome.wustl.edu	37	X	3539329	3539329	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:3539329C>T	ENST00000262848.5	-	6	1198	c.844G>A	c.(844-846)Gac>Aac	p.D282N	PRKX_ENST00000425240.1_5'UTR	NM_005044.4	NP_005035.1	P51817	PRKX_HUMAN	protein kinase, X-linked	282	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial tube morphogenesis (GO:0060562)|kidney morphogenesis (GO:0060993)|myeloid cell differentiation (GO:0030099)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of epithelial cell differentiation involved in kidney development (GO:2000696)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)			kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2)	12		all_lung(23;0.000396)|Lung NSC(23;0.00123)				CTTGTTCTGTCAACCACGAGC	0.443																																						dbGAP											0													188.0	133.0	152.0					X																	3539329		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14125.1	Xp22.3	2008-08-01			ENSG00000183943	ENSG00000183943	2.7.11.1		9441	protein-coding gene	gene with protein product		300083				7633447	Standard	NM_005044		Approved	PKX1	uc010nde.3	P51817	OTTHUMG00000021087	ENST00000262848.5:c.844G>A	X.37:g.3539329C>T	ENSP00000262848:p.Asp282Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		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,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D282N	ENST00000262848.5	37	c.844	CCDS14125.1	X	.	.	.	.	.	.	.	.	.	.	C	15.87	2.959675	0.53400	.	.	ENSG00000183943	ENST00000262848	T	0.09817	2.94	3.31	3.31	0.37934	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.20047	0.0482	L	0.31476	0.935	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.01549	-1.1327	10	0.87932	D	0	-33.2341	11.7265	0.51712	0.0:1.0:0.0:0.0	.	282	P51817	PRKX_HUMAN	N	282	ENSP00000262848:D282N	ENSP00000262848:D282N	D	-	1	0	PRKX	3549329	1.000000	0.71417	0.399000	0.26333	0.105000	0.19272	5.506000	0.66993	1.277000	0.44412	0.600000	0.82982	GAC	PRKX	-	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	ENSG00000183943		0.443	PRKX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKX	HGNC	protein_coding	OTTHUMT00000055659.1	138	0.00	0	C	NM_005044		3539329	3539329	-1	no_errors	ENST00000262848	ensembl	human	known	69_37n	missense	144	18.99	34	SNP	0.997	T
PRMT5	10419	genome.wustl.edu	37	14	23398425	23398425	+	Intron	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:23398425G>C	ENST00000324366.8	-	1	334				PRMT5_ENST00000553641.1_Intron|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5-AS1_ENST00000595662.1_RNA|RP11-298I3.1_ENST00000548819.1_RNA|PRMT5_ENST00000216350.8_Missense_Mutation_p.P4A|PRMT5_ENST00000553897.1_Intron|PRMT5_ENST00000397441.2_Missense_Mutation_p.P4A|RP11-298I3.1_ENST00000548322.1_RNA|PRMT5_ENST00000538452.1_5'UTR|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5_ENST00000397440.4_Missense_Mutation_p.P4A|PRMT5-AS1_ENST00000599580.2_RNA	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5						cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|endothelial cell activation (GO:0042118)|gene expression (GO:0010467)|histone H4-R3 methylation (GO:0043985)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|peptidyl-arginine N-methylation (GO:0035246)|regulation of mitosis (GO:0007088)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|histone-arginine N-methyltransferase activity (GO:0008469)|methyltransferase activity (GO:0008168)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|transcription corepressor activity (GO:0003714)			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		CCCGAGTTCGGACCCCGCATT	0.627																																						dbGAP											0													66.0	69.0	68.0					14																	23398425		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AF015913	CCDS9579.1, CCDS41922.1, CCDS61394.1, CCDS61395.1, CCDS61396.1	14q11.2	2014-06-12	2006-02-16	2006-02-16	ENSG00000100462	ENSG00000100462	2.1.1.125	"""Protein arginine methyltransferases"""	10894	protein-coding gene	gene with protein product		604045	"""skb1 (S. pombe) homolog"", ""SKB1 homolog (S. pombe)"""	HRMT1L5, SKB1		9843966	Standard	NM_001282955		Approved	SKB1Hs	uc001whm.1	O14744	OTTHUMG00000028709	ENST00000324366.8:c.110+35C>G	14.37:g.23398425G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MTP3|A8MZ91|B4DX49|B4DY30|B5BU10|D3DS33|E2QRE7|Q6IBR1|Q9UKH1	Missense_Mutation	SNP	pfam_Arg_MeTrfase,pirsf_Arg_MeTrfase_PRMT5	p.P4A	ENST00000324366.8	37	c.10	CCDS9579.1	14	.	.	.	.	.	.	.	.	.	.	G	8.657	0.899740	0.17686	.	.	ENSG00000100462	ENST00000397441;ENST00000397440;ENST00000216350	.	.	.	4.81	2.98	0.34508	.	.	.	.	.	T	0.22166	0.0534	N	0.14661	0.345	0.22226	N	0.99928	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.18366	-1.0339	8	0.16420	T	0.52	.	6.6099	0.22745	0.2089:0.0:0.7911:0.0	.	4;4;4	B4DX49;A8MTP3;A8MZ91	.;.;.	A	4	.	ENSP00000216350:P4A	P	-	1	0	PRMT5	22468265	0.810000	0.29049	0.997000	0.53966	0.901000	0.52897	0.597000	0.24059	1.402000	0.46780	0.563000	0.77884	CCG	PRMT5	-	pirsf_Arg_MeTrfase_PRMT5	ENSG00000100462		0.627	PRMT5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT5	HGNC	protein_coding	OTTHUMT00000071674.3	54	0.00	0	G			23398425	23398425	-1	no_errors	ENST00000397441	ensembl	human	known	69_37n	missense	50	16.67	10	SNP	0.125	C
PRNP	5621	genome.wustl.edu	37	20	4680571	4680571	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:4680571C>T	ENST00000379440.4	+	2	992	c.705C>T	c.(703-705)ttC>ttT	p.F235F	PRNP_ENST00000430350.2_Silent_p.F235F	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	F7VJQ1	APRIO_HUMAN	prion protein	0						integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14						TGGTCCTCTTCTCCTCTCCAC	0.483																																						dbGAP											0													88.0	77.0	81.0					20																	4680571		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M13899	CCDS13080.1	20p13	2014-06-05	2008-07-28		ENSG00000171867	ENSG00000171867		"""CD molecules"""	9449	protein-coding gene	gene with protein product	"""Creutzfeldt-Jakob disease"", ""Gerstmann-Strausler-Scheinker syndrome"", ""fatal familial insomnia"", ""p27-30"""	176640	"""prion protein (p27-30)"""	PRIP, GSS, CJD			Standard	NM_000311		Approved	CD230, PRP, AltPrP	uc002wkw.4	F7VJQ1	OTTHUMG00000031786	ENST00000379440.4:c.705C>T	20.37:g.4680571C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Prion/Doppel_prot_b-ribbon_dom,pfam_Prion_N_dom,superfamily_Prion/Doppel_prot_b-ribbon_dom,smart_Prion,prints_Prion	p.F235	ENST00000379440.4	37	c.705	CCDS13080.1	20																																																																																			PRNP	-	pfam_Prion/Doppel_prot_b-ribbon_dom,smart_Prion,prints_Prion	ENSG00000171867		0.483	PRNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRNP	HGNC	protein_coding	OTTHUMT00000077820.2	49	0.00	0	C	NM_000311		4680571	4680571	+1	no_errors	ENST00000379440	ensembl	human	known	69_37n	silent	43	30.65	19	SNP	1.000	T
PROCR	10544	genome.wustl.edu	37	20	33759963	33759963	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:33759963G>T	ENST00000216968.4	+	1	88	c.6G>T	c.(4-6)ttG>ttT	p.L2F	EDEM2_ENST00000540582.1_Intron	NM_006404.3	NP_006395.2	Q9UNN8	EPCR_HUMAN	protein C receptor, endothelial	2					antigen processing and presentation (GO:0019882)|blood coagulation (GO:0007596)|immune response (GO:0006955)|negative regulation of coagulation (GO:0050819)	cell surface (GO:0009986)|centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	TCAGGATGTTGACAACATTGC	0.602																																						dbGAP											0													93.0	81.0	85.0					20																	33759963		2203	4300	6503	-	-	-	SO:0001583	missense	0			L35545	CCDS13248.1	20q11.2	2010-05-04	2010-05-04		ENSG00000101000	ENSG00000101000		"""CD molecules"""	9452	protein-coding gene	gene with protein product		600646				7929370, 10518938	Standard	NM_006404		Approved	EPCR, CCD41, CD201	uc002xbt.3	Q9UNN8	OTTHUMG00000032323	ENST00000216968.4:c.6G>T	20.37:g.33759963G>T	ENSP00000216968:p.Leu2Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RC04|Q14218|Q6IB56|Q96CB3|Q9ULX1	Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog	p.L2F	ENST00000216968.4	37	c.6	CCDS13248.1	20	.	.	.	.	.	.	.	.	.	.	g	9.978	1.227327	0.22542	.	.	ENSG00000101000	ENST00000374477;ENST00000216968	T	0.10382	2.88	4.6	3.63	0.41609	.	0.475800	0.17619	N	0.167784	T	0.20088	0.0483	M	0.77820	2.39	0.30196	N	0.799055	P	0.50943	0.94	P	0.49276	0.605	T	0.07252	-1.0782	10	0.87932	D	0	.	8.7455	0.34583	0.1062:0.0:0.8938:0.0	.	2	Q9UNN8	EPCR_HUMAN	F	2	ENSP00000216968:L2F	ENSP00000216968:L2F	L	+	3	2	PROCR	33223624	0.994000	0.37717	1.000000	0.80357	0.066000	0.16364	1.579000	0.36536	2.393000	0.81446	0.645000	0.84053	TTG	PROCR	-	NULL	ENSG00000101000		0.602	PROCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROCR	HGNC	protein_coding	OTTHUMT00000078843.3	70	0.00	0	G			33759963	33759963	+1	no_errors	ENST00000216968	ensembl	human	known	69_37n	missense	65	19.75	16	SNP	0.986	T
PRODH	5625	genome.wustl.edu	37	22	18908915	18908915	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:18908915C>T	ENST00000357068.6	-	8	1216	c.951G>A	c.(949-951)tgG>tgA	p.W317*	PRODH_ENST00000334029.2_Nonsense_Mutation_p.W209*|PRODH_ENST00000420436.1_Nonsense_Mutation_p.W209*	NM_016335.4	NP_057419	O43272	PROD_HUMAN	proline dehydrogenase (oxidase) 1	317					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)	FAD binding (GO:0071949)|proline dehydrogenase activity (GO:0004657)			breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9					L-Proline(DB00172)	TGAGGCTGCTCCAGTCCAGCA	0.647																																						dbGAP											0													77.0	36.0	49.0					22																	18908915		2152	4207	6359	-	-	-	SO:0001587	stop_gained	0			AF010310	CCDS13754.1, CCDS56223.1	22q11.2	2014-07-10	2001-12-05		ENSG00000100033	ENSG00000100033	1.5.5.2		9453	protein-coding gene	gene with protein product		606810	"""proline dehydrogenase (proline oxidase )"""			9385373, 10192398	Standard	NM_001195226		Approved	HSPOX2, PRODH1, PIG6, PRODH2, TP53I6	uc002zok.4	O43272	OTTHUMG00000150163	ENST00000357068.6:c.951G>A	22.37:g.18908915C>T	ENSP00000349577:p.Trp317*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NF53|O14680|Q0P507|Q147W8|Q504W1|Q59FI8|Q6NV86|Q9UF13	Nonsense_Mutation	SNP	pfam_Proline_DH	p.W317*	ENST00000357068.6	37	c.951	CCDS13754.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	23.5|23.5	4.426347|4.426347	0.83667|0.83667	.|.	.|.	ENSG00000100033|ENSG00000100033	ENST00000438924|ENST00000357068;ENST00000446371	.|.	.|.	.|.	4.69|4.69	4.69|4.69	0.59074|0.59074	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.37237|.	0.0996|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.31696|.	-0.9934|.	3|.	.|0.02654	.|T	.|1	-15.6664|-15.6664	15.5561|15.5561	0.76196|0.76196	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	K|X	178|317;6	.|.	.|ENSP00000334726:W209X	E|W	-|-	1|3	0|0	PRODH|PRODH	17288915|17288915	1.000000|1.000000	0.71417|0.71417	0.940000|0.940000	0.37924|0.37924	0.862000|0.862000	0.49288|0.49288	7.092000|7.092000	0.76930|0.76930	2.328000|2.328000	0.79073|0.79073	0.549000|0.549000	0.68633|0.68633	GAG|TGG	PRODH	-	pfam_Proline_DH	ENSG00000100033		0.647	PRODH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRODH	HGNC	protein_coding	OTTHUMT00000316637.2	30	0.00	0	C	NM_016335		18908915	18908915	-1	no_errors	ENST00000357068	ensembl	human	known	69_37n	nonsense	39	33.90	20	SNP	1.000	T
PRODH2	58510	genome.wustl.edu	37	19	36303418	36303418	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:36303418G>C	ENST00000301175.3	-	3	460	c.443C>G	c.(442-444)tCa>tGa	p.S148*		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	148					proline catabolic process to glutamate (GO:0010133)	mitochondrial inner membrane (GO:0005743)	proline dehydrogenase activity (GO:0004657)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AAATGCGCCTGAGAGCCGGGA	0.662																																						dbGAP											0													26.0	29.0	28.0					19																	36303418		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U80018	CCDS12478.1	19q13.1	2014-07-11				ENSG00000250799			17325	protein-coding gene	gene with protein product							Standard	NM_021232		Approved	HSPOX1	uc002obx.1	Q9UF12		ENST00000301175.3:c.443C>G	19.37:g.36303418G>C	ENSP00000301175:p.Ser148*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_Proline_DH	p.S148*	ENST00000301175.3	37	c.443	CCDS12478.1	19	.	.	.	.	.	.	.	.	.	.	G	18.64	3.668191	0.67814	.	.	ENSG00000250799	ENST00000301175	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.4787	0.44680	0.088:0.0:0.912:0.0	.	.	.	.	X	148	.	ENSP00000301175:S148X	S	-	2	0	PRODH2	40995258	0.996000	0.38824	0.835000	0.33067	0.086000	0.17979	2.916000	0.48813	2.618000	0.88619	0.591000	0.81541	TCA	PRODH2	-	NULL	ENSG00000250799		0.662	PRODH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRODH2	HGNC	protein_coding	OTTHUMT00000452552.2	15	0.00	0	G	NM_021232		36303418	36303418	-1	no_errors	ENST00000301175	ensembl	human	known	69_37n	nonsense	24	20.00	6	SNP	0.939	C
PROM2	150696	genome.wustl.edu	37	2	95942342	95942342	+	Splice_Site	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:95942342G>A	ENST00000317620.9	+	5	752	c.619G>A	c.(619-621)Gag>Aag	p.E207K	PROM2_ENST00000317668.4_Splice_Site_p.E207K|PROM2_ENST00000403131.2_Splice_Site_p.E207K|PROM2_ENST00000542147.1_Splice_Site_p.E207K|PROM2_ENST00000463580.1_3'UTR	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	207					negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088)	cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914)	cholesterol binding (GO:0015485)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GTTTGCCTAGGAGCTGCAGGC	0.642																																						dbGAP											0													91.0	94.0	93.0					2																	95942342		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.619-1G>A	2.37:g.95942342G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Missense_Mutation	SNP	pfam_Prominin	p.E207K	ENST00000317620.9	37	c.619	CCDS2012.1	2	.	.	.	.	.	.	.	.	.	.	G	9.830	1.188230	0.21954	.	.	ENSG00000155066	ENST00000403131;ENST00000317668;ENST00000317620;ENST00000542147	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	4.37	3.47	0.39725	.	0.202618	0.33670	N	0.004670	T	0.31575	0.0801	L	0.44542	1.39	0.80722	D	1	B	0.15141	0.012	B	0.17433	0.018	T	0.07986	-1.0744	9	.	.	.	-17.742	8.4356	0.32784	0.1091:0.0:0.8909:0.0	.	207	Q8N271	PROM2_HUMAN	K	207	ENSP00000385716:E207K;ENSP00000318520:E207K;ENSP00000318270:E207K;ENSP00000442542:E207K	.	E	+	1	0	PROM2	95306069	1.000000	0.71417	1.000000	0.80357	0.298000	0.27526	3.362000	0.52314	1.028000	0.39785	0.462000	0.41574	GAG	PROM2	-	pfam_Prominin	ENSG00000155066		0.642	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PROM2	HGNC	protein_coding	OTTHUMT00000252771.1	61	0.00	0	G	NM_144707	Missense_Mutation	95942342	95942342	+1	no_errors	ENST00000317620	ensembl	human	known	69_37n	missense	58	27.50	22	SNP	1.000	A
PRPF3	9129	genome.wustl.edu	37	1	150316909	150316909	+	Splice_Site	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:150316909G>C	ENST00000324862.6	+	12	1691		c.e12-1		PRPF3_ENST00000467329.1_3'UTR|PRPF3_ENST00000543398.1_Splice_Site|PRPF3_ENST00000414970.2_Splice_Site	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3						mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 x U5 tri-snRNP complex (GO:0046540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		TGTCACGACAGAGCGCATGAA	0.498																																					Ovarian(168;1070 2670 5178 20729)	dbGAP											0													96.0	103.0	101.0					1																	150316909		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF001947	CCDS951.1	1q21.1	2013-07-16	2013-06-10		ENSG00000117360	ENSG00000117360			17348	protein-coding gene	gene with protein product		607301	"""retinitis pigmentosa 18 (autosomal dominant)"", ""PRP3 pre-mRNA processing factor 3 homolog (yeast)"", ""PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae)"""	RP18			Standard	NM_004698		Approved	Prp3, hPrp3, SNRNP90	uc001eum.4	O43395	OTTHUMG00000012807	ENST00000324862.6:c.1527-1G>C	1.37:g.150316909G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DSY9|O43446|Q5VT54	Splice_Site	SNP	-	e11-1	ENST00000324862.6	37	c.1527-1	CCDS951.1	1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.175396	0.78564	.	.	ENSG00000117360	ENST00000324862;ENST00000414970	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3116	0.94189	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRPF3	148583533	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.527000	0.90594	2.797000	0.96272	0.655000	0.94253	.	PRPF3	-	-	ENSG00000117360		0.498	PRPF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF3	HGNC	protein_coding	OTTHUMT00000035836.1	60	0.00	0	G	NM_004698	Intron	150316909	150316909	+1	no_errors	ENST00000324862	ensembl	human	known	69_37n	splice_site	47	16.07	9	SNP	1.000	C
PRPF40B	25766	genome.wustl.edu	37	12	50025642	50025642	+	Splice_Site	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:50025642G>C	ENST00000380281.1	+	3	226		c.e3-1		PRPF40B_ENST00000548825.2_Splice_Site|PRPF40B_ENST00000261897.1_Splice_Site			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						TGTATCCATAGATACCAGGAA	0.557																																						dbGAP											0													255.0	228.0	237.0					12																	50025642		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"""Huntingtin interacting protein C"""		"""PRP40 pre-mRNA processing factor 40 homolog B (yeast)"""			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.163-1G>C	12.37:g.50025642G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Splice_Site	SNP	-	e3-1	ENST00000380281.1	37	c.163-1		12	.	.	.	.	.	.	.	.	.	.	G	20.4	3.982041	0.74474	.	.	ENSG00000110844	ENST00000548825;ENST00000261897;ENST00000380281	.	.	.	4.72	4.72	0.59763	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.974	0.86309	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRPF40B	48311909	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.458000	0.80787	2.617000	0.88574	0.561000	0.74099	.	PRPF40B	-	-	ENSG00000110844		0.557	PRPF40B-001	KNOWN	basic	protein_coding	PRPF40B	HGNC	protein_coding	OTTHUMT00000404838.1	59	0.00	0	G	NM_012272	Intron	50025642	50025642	+1	no_errors	ENST00000380281	ensembl	human	known	69_37n	splice_site	62	21.52	17	SNP	1.000	C
PRPF40B	25766	genome.wustl.edu	37	12	50029197	50029197	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:50029197G>A	ENST00000380281.1	+	13	1214	c.1150G>A	c.(1150-1152)Gag>Aag	p.E384K	PRPF40B_ENST00000548825.2_Missense_Mutation_p.E406K|FMNL3_ENST00000550668.1_5'Flank|PRPF40B_ENST00000261897.1_Missense_Mutation_p.E378K			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	384	FF 2.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						TGTGGTCCCTGAGAGGGATCG	0.532																																						dbGAP											0													143.0	142.0	142.0					12																	50029197		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"""Huntingtin interacting protein C"""		"""PRP40 pre-mRNA processing factor 40 homolog B (yeast)"""			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.1150G>A	12.37:g.50029197G>A	ENSP00000369634:p.Glu384Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Missense_Mutation	SNP	pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP	p.E384K	ENST00000380281.1	37	c.1150		12	.	.	.	.	.	.	.	.	.	.	G	35	5.489098	0.96323	.	.	ENSG00000110844	ENST00000261897;ENST00000380281	T;T	0.29397	1.57;1.57	5.0	5.0	0.66597	FF domain (1);	0.000000	0.64402	D	0.000009	T	0.55893	0.1949	M	0.75777	2.31	0.80722	D	1	D;D;D	0.69078	0.991;0.997;0.997	P;D;D	0.70935	0.884;0.971;0.971	T	0.54931	-0.8219	9	.	.	.	-22.5558	17.599	0.88021	0.0:0.0:1.0:0.0	.	384;378;384	Q6NWY9;Q6NWY9-2;Q6NWY9-3	PR40B_HUMAN;.;.	K	378;384	ENSP00000261897:E378K;ENSP00000369634:E384K	.	E	+	1	0	PRPF40B	48315464	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.388000	0.97237	2.775000	0.95449	0.563000	0.77884	GAG	PRPF40B	-	superfamily_FF_domain	ENSG00000110844		0.532	PRPF40B-001	KNOWN	basic	protein_coding	PRPF40B	HGNC	protein_coding	OTTHUMT00000404838.1	62	0.00	0	G	NM_012272		50029197	50029197	+1	no_errors	ENST00000380281	ensembl	human	known	69_37n	missense	39	39.06	25	SNP	1.000	A
PRPF40B	25766	genome.wustl.edu	37	12	50037942	50037942	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:50037942G>C	ENST00000380281.1	+	25	2647	c.2583G>C	c.(2581-2583)cgG>cgC	p.R861R	FMNL3_ENST00000335154.5_3'UTR|PRPF40B_ENST00000548825.2_Silent_p.R882R|PRPF40B_ENST00000261897.1_Silent_p.R848R			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	861					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						GGCGGCGGCGGACACTCCTAC	0.597											OREG0021798	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													136.0	106.0	116.0					12																	50037942		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"""Huntingtin interacting protein C"""		"""PRP40 pre-mRNA processing factor 40 homolog B (yeast)"""			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.2583G>C	12.37:g.50037942G>C		Somatic	966	WXS	Illumina GAIIx	Phase_IV	O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Silent	SNP	pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP	p.R861	ENST00000380281.1	37	c.2583		12																																																																																			PRPF40B	-	NULL	ENSG00000110844		0.597	PRPF40B-001	KNOWN	basic	protein_coding	PRPF40B	HGNC	protein_coding	OTTHUMT00000404838.1	94	0.00	0	G	NM_012272		50037942	50037942	+1	no_errors	ENST00000380281	ensembl	human	known	69_37n	silent	38	58.24	53	SNP	1.000	C
PRPF4B	8899	genome.wustl.edu	37	6	4047419	4047419	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:4047419G>C	ENST00000337659.6	+	7	1972	c.1872G>C	c.(1870-1872)caG>caC	p.Q624H	PRPF4B_ENST00000538861.1_Missense_Mutation_p.Q610H	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	624					mRNA splicing, via spliceosome (GO:0000398)|protein phosphorylation (GO:0006468)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|chromosome (GO:0005694)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				GTTCATCTCAGAAGAAGTTGT	0.279																																						dbGAP											0													154.0	147.0	150.0					6																	4047419		2202	4299	6501	-	-	-	SO:0001583	missense	0			U48736	CCDS4488.1	6p24.2	2013-10-03	2013-10-03		ENSG00000112739	ENSG00000112739			17346	protein-coding gene	gene with protein product		602338	"""PRP4 pre-mRNA processing factor 4 homolog B (yeast)"""			9628581, 11418604	Standard	XR_241936		Approved	Prp4, PR4H, KIAA0536	uc003mvv.3	Q13523	OTTHUMG00000014157	ENST00000337659.6:c.1872G>C	6.37:g.4047419G>C	ENSP00000337194:p.Gln624His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6	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.Q624H	ENST00000337659.6	37	c.1872	CCDS4488.1	6	.	.	.	.	.	.	.	.	.	.	G	15.74	2.922385	0.52653	.	.	ENSG00000112739	ENST00000337659;ENST00000538861	T;T	0.68025	-0.3;-0.3	5.51	1.78	0.24846	.	0.000000	0.64402	D	0.000005	T	0.55130	0.1901	N	0.20986	0.625	0.45452	D	0.998428	D	0.57571	0.98	D	0.66979	0.948	T	0.58194	-0.7679	10	0.49607	T	0.09	.	10.4695	0.44629	0.2631:0.0:0.7369:0.0	.	624	Q13523	PRP4B_HUMAN	H	624;610	ENSP00000337194:Q624H;ENSP00000439331:Q610H	ENSP00000337194:Q624H	Q	+	3	2	PRPF4B	3992418	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	1.140000	0.31516	0.106000	0.17784	-0.143000	0.13931	CAG	PRPF4B	-	NULL	ENSG00000112739		0.279	PRPF4B-011	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF4B	HGNC	protein_coding	OTTHUMT00000314018.2	264	0.00	0	G			4047419	4047419	+1	no_errors	ENST00000337659	ensembl	human	known	69_37n	missense	159	24.64	52	SNP	1.000	C
PRPSAP2	5636	genome.wustl.edu	37	17	18832250	18832250	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:18832250G>C	ENST00000268835.2	+	11	1214	c.931G>C	c.(931-933)Gaa>Caa	p.E311Q	PRPSAP2_ENST00000536323.1_Missense_Mutation_p.E225Q|PRPSAP2_ENST00000419071.2_Missense_Mutation_p.E271Q|PRPSAP2_ENST00000542013.1_Intron	NM_002767.3	NP_002758.1	O60256	KPRB_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 2	311					bone development (GO:0060348)|negative regulation of catalytic activity (GO:0043086)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide biosynthetic process (GO:0009165)	ribose phosphate diphosphokinase complex (GO:0002189)	enzyme inhibitor activity (GO:0004857)|magnesium ion binding (GO:0000287)|ribose phosphate diphosphokinase activity (GO:0004749)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						CCGGCGGATTGAAGAGTCTGC	0.507																																						dbGAP											0													136.0	134.0	134.0					17																	18832250		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007851	CCDS11200.1, CCDS58525.1, CCDS58526.1, CCDS58527.1	17p12-p11.2	2008-05-14			ENSG00000141127	ENSG00000141127			9467	protein-coding gene	gene with protein product		603762				9806849	Standard	NM_002767		Approved	PAP41	uc002gup.2	O60256	OTTHUMG00000059406	ENST00000268835.2:c.931G>C	17.37:g.18832250G>C	ENSP00000268835:p.Glu311Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E1M8|B4E329|B7ZKZ1|E7EMY2|Q6IAS2	Missense_Mutation	SNP	tigrfam_Rib-P_diPkinase	p.E311Q	ENST00000268835.2	37	c.931	CCDS11200.1	17	.	.	.	.	.	.	.	.	.	.	G	20.4	3.985265	0.74474	.	.	ENSG00000141127	ENST00000395656;ENST00000419071;ENST00000268835;ENST00000536323	T;T;T	0.75821	-0.97;-0.97;-0.97	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.74831	0.3768	M	0.64997	1.995	0.80722	D	1	B;B;B	0.27971	0.196;0.071;0.096	B;B;B	0.31337	0.128;0.074;0.082	T	0.72411	-0.4302	10	0.39692	T	0.17	0.621	19.0724	0.93145	0.0:0.0:1.0:0.0	.	271;98;311	E7EMY2;Q6ZTP6;O60256	.;.;KPRB_HUMAN	Q	311;271;311;225	ENSP00000392536:E271Q;ENSP00000268835:E311Q;ENSP00000443967:E225Q	ENSP00000268835:E311Q	E	+	1	0	PRPSAP2	18772975	1.000000	0.71417	0.985000	0.45067	0.972000	0.66771	9.729000	0.98795	2.566000	0.86566	0.585000	0.79938	GAA	PRPSAP2	-	tigrfam_Rib-P_diPkinase	ENSG00000141127		0.507	PRPSAP2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPSAP2	HGNC	protein_coding	OTTHUMT00000132112.3	61	0.00	0	G	NM_002767		18832250	18832250	+1	no_errors	ENST00000268835	ensembl	human	known	69_37n	missense	49	24.62	16	SNP	1.000	C
PRR12	57479	genome.wustl.edu	37	19	50102590	50102590	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:50102590C>T	ENST00000418929.2	+	5	3752	c.3740C>T	c.(3739-3741)tCa>tTa	p.S1247L		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0							DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GATGCCATATCAGGCACTGAC	0.602																																						dbGAP											0													31.0	32.0	31.0					19																	50102590		2072	4221	6293	-	-	-	SO:0001583	missense	0			AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.3740C>T	19.37:g.50102590C>T	ENSP00000394510:p.Ser1247Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PB06|Q8N4J6	Missense_Mutation	SNP	NULL	p.S1247L	ENST00000418929.2	37	c.3740	CCDS46143.1	19	.	.	.	.	.	.	.	.	.	.	C	2.950	-0.216959	0.06101	.	.	ENSG00000126464	ENST00000418929;ENST00000246798;ENST00000314734	.	.	.	4.85	3.8	0.43715	.	0.755390	0.11329	N	0.575199	T	0.37019	0.0988	L	0.43923	1.385	0.09310	N	1	B	0.29301	0.241	B	0.32022	0.139	T	0.29731	-1.0002	9	0.48119	T	0.1	-10.1016	9.2757	0.37698	0.1645:0.6766:0.1589:0.0	.	1247	Q9ULL5-3	.	L	1247;427;427	.	ENSP00000246798:S427L	S	+	2	0	PRR12	54794402	0.001000	0.12720	0.010000	0.14722	0.017000	0.09413	1.072000	0.30678	1.236000	0.43740	0.563000	0.77884	TCA	PRR12	-	NULL	ENSG00000126464		0.602	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PRR12	HGNC	protein_coding	OTTHUMT00000465915.1	25	0.00	0	C	NM_020719		50102590	50102590	+1	no_errors	ENST00000418929	ensembl	human	known	69_37n	missense	14	30.00	6	SNP	0.071	T
PRR14	78994	genome.wustl.edu	37	16	30666207	30666207	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:30666207C>T	ENST00000542965.2	+	7	1372	c.916C>T	c.(916-918)Cgg>Tgg	p.R306W	PRR14_ENST00000300835.4_Missense_Mutation_p.R306W|PRR14_ENST00000571654.1_3'UTR			Q9BWN1	PRR14_HUMAN	proline rich 14	306	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			TGTCAGCCCCCGGCCCCCAAT	0.657																																						dbGAP											0													46.0	49.0	48.0					16																	30666207		2196	4300	6496	-	-	-	SO:0001583	missense	0			AK074783	CCDS10687.1	16p11.2	2008-02-05			ENSG00000156858	ENSG00000156858			28458	protein-coding gene	gene with protein product						12477932	Standard	NM_024031		Approved	MGC3121	uc002dyy.3	Q9BWN1	OTTHUMG00000132414	ENST00000542965.2:c.916C>T	16.37:g.30666207C>T	ENSP00000441641:p.Arg306Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WTX2	Missense_Mutation	SNP	NULL	p.R306W	ENST00000542965.2	37	c.916	CCDS10687.1	16	.	.	.	.	.	.	.	.	.	.	C	18.35	3.604393	0.66445	.	.	ENSG00000156858	ENST00000287463;ENST00000300835;ENST00000542965	T;T	0.60424	0.19;0.19	5.77	3.79	0.43588	.	0.118768	0.38058	N	0.001829	T	0.73442	0.3587	M	0.69823	2.125	0.36475	D	0.867485	D	0.89917	1.0	D	0.91635	0.999	T	0.79981	-0.1574	10	0.87932	D	0	-14.0443	12.9976	0.58657	0.2917:0.7083:0.0:0.0	.	306	Q9BWN1	PRR14_HUMAN	W	279;306;306	ENSP00000300835:R306W;ENSP00000441641:R306W	ENSP00000287463:R279W	R	+	1	2	PRR14	30573708	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.522000	0.22909	0.759000	0.33084	0.655000	0.94253	CGG	PRR14	-	NULL	ENSG00000156858		0.657	PRR14-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRR14	HGNC	protein_coding	OTTHUMT00000434433.1	27	0.00	0	C	NM_024031		30666207	30666207	+1	no_errors	ENST00000300835	ensembl	human	known	69_37n	missense	11	54.17	13	SNP	1.000	T
PRR14L	253143	genome.wustl.edu	37	22	32108527	32108527	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:32108527G>A	ENST00000327423.6	-	4	5487	c.5298C>T	c.(5296-5298)ttC>ttT	p.F1766F	PRR14L_ENST00000397493.2_Silent_p.F1766F|PRR14L_ENST00000434485.1_Silent_p.F1766F	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN	proline rich 14-like	1766										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						GGGACAAGAAGAAAGAAAAGG	0.582																																						dbGAP											0													48.0	51.0	50.0					22																	32108527		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			BC040859	CCDS13900.2	22q12.2	2011-01-25	2011-01-25	2011-01-25	ENSG00000183530	ENSG00000183530			28738	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 30"""	C22orf30		12477932	Standard	NM_173566		Approved	MGC50372	uc003alp.4	Q5THK1	OTTHUMG00000030139	ENST00000327423.6:c.5298C>T	22.37:g.32108527G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5THK4|Q6ZNN1|Q6ZWH0|Q8IW74|Q9H5T4	Missense_Mutation	SNP	NULL	p.L69F	ENST00000327423.6	37	c.205	CCDS13900.2	22	.	.	.	.	.	.	.	.	.	.	G	7.725	0.697949	0.15106	.	.	ENSG00000183530	ENST00000330495	.	.	.	5.81	-0.0418	0.13866	.	.	.	.	.	T	0.51109	0.1655	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38478	-0.9659	4	.	.	.	-6.5462	5.6628	0.17678	0.3368:0.2341:0.4291:0.0	.	.	.	.	F	69	.	.	L	-	1	0	PRR14L	30438527	0.996000	0.38824	0.956000	0.39512	0.961000	0.63080	0.168000	0.16622	0.063000	0.16370	0.655000	0.94253	CTT	PRR14L	-	NULL	ENSG00000183530		0.582	PRR14L-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PRR14L	HGNC	protein_coding	OTTHUMT00000074993.2	52	0.00	0	G	NM_173566		32108527	32108527	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000330495	ensembl	human	novel	69_37n	missense	101	10.53	12	SNP	0.833	A
PRR7	80758	genome.wustl.edu	37	5	176882158	176882158	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:176882158C>T	ENST00000323249.3	+	3	580	c.90C>T	c.(88-90)ttC>ttT	p.F30F	PRR7_ENST00000502922.1_Silent_p.F30F|PRR7_ENST00000510492.1_Silent_p.F30F	NM_030567.4	NP_085044.2	Q8TB68	PRR7_HUMAN	proline rich 7 (synaptic)	30						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)						all_cancers(89;1.51e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTGCTGCTTCTGCAGCTTCC	0.667																																						dbGAP											0													44.0	39.0	40.0					5																	176882158		2200	4299	6499	-	-	-	SO:0001819	synonymous_variant	0			BC021240	CCDS4419.1	5q35.3	2005-01-20			ENSG00000131188	ENSG00000131188			28130	protein-coding gene	gene with protein product						15629447	Standard	NM_030567		Approved	MGC10772	uc003mgw.2	Q8TB68	OTTHUMG00000130861	ENST00000323249.3:c.90C>T	5.37:g.176882158C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WU53|Q9BTA7	Silent	SNP	pfam_Uncharacterised_WW-bd	p.F30	ENST00000323249.3	37	c.90	CCDS4419.1	5																																																																																			PRR7	-	pfam_Uncharacterised_WW-bd	ENSG00000131188		0.667	PRR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRR7	HGNC	protein_coding	OTTHUMT00000253435.1	28	0.00	0	C	NM_030567		176882158	176882158	+1	no_errors	ENST00000323249	ensembl	human	known	69_37n	silent	9	30.77	4	SNP	1.000	T
PRRC2A	7916	genome.wustl.edu	37	6	31593278	31593278	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:31593278G>A	ENST00000376033.2	+	7	883	c.649G>A	c.(649-651)Gag>Aag	p.E217K	SNORA38_ENST00000363946.1_RNA|PRRC2A_ENST00000376007.4_Missense_Mutation_p.E217K|PRRC2A_ENST00000469577.1_3'UTR	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	217	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TGGCCCTGATGAGCTGGAGGG	0.552																																						dbGAP											0													80.0	84.0	83.0					6																	31593278		2203	4300	6503	-	-	-	SO:0001583	missense	0			M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.649G>A	6.37:g.31593278G>A	ENSP00000365201:p.Glu217Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	pfam_BAT2_N	p.E217K	ENST00000376033.2	37	c.649	CCDS4708.1	6	.	.	.	.	.	.	.	.	.	.	G	15.47	2.842260	0.51057	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033	T;T	0.01685	4.69;4.69	4.97	4.97	0.65823	.	0.263237	0.27043	N	0.021204	T	0.00967	0.0032	L	0.29908	0.895	0.30127	N	0.805171	B	0.26635	0.155	B	0.24155	0.051	T	0.45411	-0.9263	10	0.87932	D	0	-8.0704	17.1404	0.86752	0.0:0.0:1.0:0.0	.	217	P48634	PRC2A_HUMAN	K	217	ENSP00000365175:E217K;ENSP00000365201:E217K	ENSP00000365175:E217K	E	+	1	0	PRRC2A	31701257	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.014000	0.64029	2.580000	0.87095	0.591000	0.81541	GAG	PRRC2A	-	NULL	ENSG00000204469		0.552	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2A	HGNC	protein_coding	OTTHUMT00000259319.1	66	0.00	0	G	NM_080686		31593278	31593278	+1	no_errors	ENST00000376007	ensembl	human	known	69_37n	missense	66	29.79	28	SNP	1.000	A
PRRC2B	84726	genome.wustl.edu	37	9	134349858	134349858	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:134349858C>T	ENST00000357304.4	+	15	2397	c.2342C>T	c.(2341-2343)tCt>tTt	p.S781F	PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Intron	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	781							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						AGCTCTTTCTCTGCCTCACTC	0.493																																						dbGAP											0													78.0	80.0	79.0					9																	134349858		1901	4121	6022	-	-	-	SO:0001583	missense	0			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.2342C>T	9.37:g.134349858C>T	ENSP00000349856:p.Ser781Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	pfam_BAT2_N	p.S781F	ENST00000357304.4	37	c.2342	CCDS48044.1	9	.	.	.	.	.	.	.	.	.	.	C	15.79	2.936668	0.52972	.	.	ENSG00000130723	ENST00000357304;ENST00000418650;ENST00000456307	T;T	0.11063	2.81;2.81	5.46	3.32	0.38043	.	.	.	.	.	T	0.09642	0.0237	N	0.24115	0.695	0.80722	D	1	B;B	0.28350	0.208;0.017	B;B	0.29598	0.104;0.007	T	0.11131	-1.0600	9	0.62326	D	0.03	.	15.4934	0.75629	0.0:0.6731:0.3269:0.0	.	77;781	Q5H9R5;Q5JSZ5	.;PRC2B_HUMAN	F	781;77;50	ENSP00000349856:S781F;ENSP00000400608:S50F	ENSP00000349856:S781F	S	+	2	0	PRRC2B	133339679	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.206000	0.32321	0.435000	0.26365	0.655000	0.94253	TCT	PRRC2B	-	NULL	ENSG00000130723		0.493	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2B	HGNC	protein_coding		43	0.00	0	C			134349858	134349858	+1	no_errors	ENST00000357304	ensembl	human	known	69_37n	missense	57	19.72	14	SNP	1.000	T
PRRC2B	84726	genome.wustl.edu	37	9	134358247	134358247	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:134358247G>A	ENST00000357304.4	+	21	5381	c.5326G>A	c.(5326-5328)Gac>Aac	p.D1776N	PRRC2B_ENST00000405995.1_Missense_Mutation_p.D1082N|PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Missense_Mutation_p.D1082N|SNORD62A_ENST00000428514.1_RNA	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1776							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GATTCACGTGGACTCCGTGCT	0.517																																						dbGAP											0													25.0	29.0	28.0					9																	134358247		1971	4151	6122	-	-	-	SO:0001583	missense	0			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.5326G>A	9.37:g.134358247G>A	ENSP00000349856:p.Asp1776Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	pfam_BAT2_N	p.D1776N	ENST00000357304.4	37	c.5326	CCDS48044.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.099997|5.099997	0.94197|0.94197	.|.	.|.	ENSG00000130723|ENSG00000130723	ENST00000405995;ENST00000357304;ENST00000458550|ENST00000451855	T;T;T|.	0.02837|.	4.14;4.46;4.14|.	5.03|5.03	5.03|5.03	0.67393|0.67393	.|.	0.000000|.	0.43110|.	U|.	0.000605|.	T|T	0.68970|0.68970	0.3059|0.3059	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.998|.	T|T	0.66795|0.66795	-0.5833|-0.5833	10|5	0.27785|.	T|.	0.31|.	-45.8231|-45.8231	17.3541|17.3541	0.87331|0.87331	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	508;1776|.	Q5JSZ8;Q5JSZ5|.	.;PRC2B_HUMAN|.	N|E	1082;1776;1082|508	ENSP00000384606:D1082N;ENSP00000349856:D1776N;ENSP00000398853:D1082N|.	ENSP00000349856:D1776N|.	D|G	+|+	1|2	0|0	PRRC2B|PRRC2B	133348068|133348068	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	9.188000|9.188000	0.94921|0.94921	2.333000|2.333000	0.79357|0.79357	0.561000|0.561000	0.74099|0.74099	GAC|GGA	PRRC2B	-	NULL	ENSG00000130723		0.517	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2B	HGNC	protein_coding		37	0.00	0	G			134358247	134358247	+1	no_errors	ENST00000357304	ensembl	human	known	69_37n	missense	32	33.33	16	SNP	1.000	A
PRRC2C	23215	genome.wustl.edu	37	1	171501579	171501579	+	Missense_Mutation	SNP	G	G	A	rs148915470		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:171501579G>A	ENST00000338920.4	+	12	1583	c.1346G>A	c.(1345-1347)cGa>cAa	p.R449Q	PRRC2C_ENST00000426496.2_Missense_Mutation_p.R449Q|PRRC2C_ENST00000392078.3_Missense_Mutation_p.R451Q|PRRC2C_ENST00000476522.1_3'UTR|PRRC2C_ENST00000367742.3_Missense_Mutation_p.R451Q	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	449					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										AAGCAAAGACGAAGACAACAA	0.498													G|||	1	0.000199681	0.0	0.0	5008	,	,		21648	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													69.0	64.0	66.0					1																	171501579		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.1346G>A	1.37:g.171501579G>A	ENSP00000343629:p.Arg449Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	pfam_BAT2_N	p.R451Q	ENST00000338920.4	37	c.1352	CCDS1296.2	1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	19.54	3.846788	0.71603	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080;ENST00000483654	T;T;T;T	0.08458	3.09;3.09;3.09;3.09	6.03	6.03	0.97812	.	0.000000	0.40144	N	0.001168	T	0.24005	0.0581	M	0.72894	2.215	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	T	0.00203	-1.1924	10	0.51188	T	0.08	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	449;451	Q9Y520-4;E7EPN9	.;.	Q	451;449;449;451;449;205;207	ENSP00000375928:R451Q;ENSP00000410219:R449Q;ENSP00000356716:R451Q;ENSP00000343629:R449Q	ENSP00000343629:R449Q	R	+	2	0	PRRC2C	169768203	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.259000	0.95561	2.861000	0.98227	0.655000	0.94253	CGA	PRRC2C	-	NULL	ENSG00000117523		0.498	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRRC2C	HGNC	protein_coding	OTTHUMT00000314826.4	58	0.00	0	G	NM_015172		171501579	171501579	+1	no_errors	ENST00000392078	ensembl	human	known	69_37n	missense	73	31.13	33	SNP	1.000	A
PRRC2C	23215	genome.wustl.edu	37	1	171501701	171501701	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:171501701G>A	ENST00000338920.4	+	12	1705	c.1468G>A	c.(1468-1470)Gag>Aag	p.E490K	PRRC2C_ENST00000426496.2_Missense_Mutation_p.E490K|PRRC2C_ENST00000392078.3_Missense_Mutation_p.E492K|PRRC2C_ENST00000476522.1_3'UTR|PRRC2C_ENST00000367742.3_Missense_Mutation_p.E492K	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	490	Glu-rich.				hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										ACGATTGGATGAGAAGCTTGG	0.468																																						dbGAP											0													67.0	59.0	62.0					1																	171501701		2202	4293	6495	-	-	-	SO:0001583	missense	0			AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.1468G>A	1.37:g.171501701G>A	ENSP00000343629:p.Glu490Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	pfam_BAT2_N	p.E492K	ENST00000338920.4	37	c.1474	CCDS1296.2	1	.	.	.	.	.	.	.	.	.	.	G	19.74	3.882946	0.72410	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080;ENST00000483654	T;T;T;T	0.07908	3.15;3.15;3.15;3.15	6.02	6.02	0.97574	.	0.000000	0.47852	D	0.000220	T	0.24586	0.0596	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.00353	-1.1795	10	0.66056	D	0.02	.	20.5373	0.99239	0.0:0.0:1.0:0.0	.	490;492	Q9Y520-4;E7EPN9	.;.	K	492;490;490;492;490;246;248	ENSP00000375928:E492K;ENSP00000410219:E490K;ENSP00000356716:E492K;ENSP00000343629:E490K	ENSP00000343629:E490K	E	+	1	0	PRRC2C	169768325	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.259000	0.95561	2.857000	0.98124	0.650000	0.86243	GAG	PRRC2C	-	NULL	ENSG00000117523		0.468	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRRC2C	HGNC	protein_coding	OTTHUMT00000314826.4	86	0.00	0	G	NM_015172		171501701	171501701	+1	no_errors	ENST00000392078	ensembl	human	known	69_37n	missense	76	37.70	46	SNP	1.000	A
PRRC2C	23215	genome.wustl.edu	37	1	171509807	171509807	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:171509807C>G	ENST00000338920.4	+	16	3433	c.3196C>G	c.(3196-3198)Cag>Gag	p.Q1066E	PRRC2C_ENST00000426496.2_Missense_Mutation_p.Q1066E|PRRC2C_ENST00000392078.3_Missense_Mutation_p.Q1068E|PRRC2C_ENST00000367742.3_Missense_Mutation_p.Q1068E	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1066	Pro-rich.				hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										ACCACCACCTCAGCCACCAGC	0.468																																						dbGAP											0													94.0	104.0	101.0					1																	171509807		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.3196C>G	1.37:g.171509807C>G	ENSP00000343629:p.Gln1066Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	pfam_BAT2_N	p.Q1068E	ENST00000338920.4	37	c.3202	CCDS1296.2	1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.514747	0.00151	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080	T;T;T;T	0.01745	4.66;4.66;4.66;4.66	0.225	0.225	0.15325	.	0.475015	0.17578	N	0.169239	T	0.00271	0.0008	N	0.08118	0	0.09310	N	1	B	0.24533	0.105	B	0.28638	0.092	T	0.40136	-0.9579	9	0.02654	T	1	.	.	.	.	.	1066	Q9Y520-4	.	E	1068;1067;1066;1068;1066;823	ENSP00000375928:Q1068E;ENSP00000410219:Q1066E;ENSP00000356716:Q1068E;ENSP00000343629:Q1066E	ENSP00000343629:Q1066E	Q	+	1	0	PRRC2C	169776431	0.009000	0.17119	0.132000	0.22025	0.530000	0.34684	0.305000	0.19254	0.300000	0.22699	0.305000	0.20034	CAG	PRRC2C	-	NULL	ENSG00000117523		0.468	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRRC2C	HGNC	protein_coding	OTTHUMT00000314826.4	184	0.00	0	C	NM_015172		171509807	171509807	+1	no_errors	ENST00000392078	ensembl	human	known	69_37n	missense	228	15.24	41	SNP	0.003	G
PRSS21	10942	genome.wustl.edu	37	16	2868967	2868967	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:2868967G>A	ENST00000005995.3	+	4	589	c.547G>A	c.(547-549)Gag>Aag	p.E183K	PRSS21_ENST00000575739.1_3'UTR|PRSS21_ENST00000455114.1_Missense_Mutation_p.E181K|PRSS21_ENST00000450020.3_Missense_Mutation_p.E183K			Q9Y6M0	TEST_HUMAN	protease, serine, 21 (testisin)	183	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				spermatogenesis (GO:0007283)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	15						CAAAGAGGATGAGGGTGAGGC	0.577																																						dbGAP											0													56.0	53.0	54.0					16																	2868967		2198	4300	6498	-	-	-	SO:0001583	missense	0			AF058300	CCDS10478.1, CCDS45388.1	16p13.3	2010-05-07			ENSG00000007038	ENSG00000007038		"""Serine peptidases / Serine peptidases"""	9485	protein-coding gene	gene with protein product		608159				10397266, 9826525	Standard	NM_006799		Approved	ESP-1, TEST1, TESTISIN	uc002crt.4	Q9Y6M0	OTTHUMG00000128931	ENST00000005995.3:c.547G>A	16.37:g.2868967G>A	ENSP00000005995:p.Glu183Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NS34|Q9P2V6	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.E183K	ENST00000005995.3	37	c.547	CCDS10478.1	16	.	.	.	.	.	.	.	.	.	.	g	1.517	-0.547998	0.04024	.	.	ENSG00000007038	ENST00000455114;ENST00000450020;ENST00000005995	D;D;D	0.88124	-2.34;-2.34;-2.34	4.34	-8.68	0.00859	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	4.730510	0.01265	N	0.009287	T	0.71626	0.3362	N	0.25332	0.735	0.09310	N	1	B;B;B	0.14012	0.009;0.007;0.007	B;B;B	0.15484	0.013;0.007;0.007	T	0.66516	-0.5904	10	0.06365	T	0.9	.	3.8943	0.09133	0.104:0.4539:0.268:0.1742	.	183;181;183	Q9Y6M0;Q9Y6M0-2;Q9Y6M0-3	TEST_HUMAN;.;.	K	181;183;183	ENSP00000400632:E181K;ENSP00000407741:E183K;ENSP00000005995:E183K	ENSP00000005995:E183K	E	+	1	0	PRSS21	2808968	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-5.665000	0.00106	-2.272000	0.00682	-0.290000	0.09829	GAG	PRSS21	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000007038		0.577	PRSS21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRSS21	HGNC	protein_coding	OTTHUMT00000250910.1	69	0.00	0	G	NM_006799		2868967	2868967	+1	no_errors	ENST00000005995	ensembl	human	known	69_37n	missense	108	20.59	28	SNP	0.000	A
PRSS36	146547	genome.wustl.edu	37	16	31153200	31153200	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:31153200G>C	ENST00000268281.4	-	11	1661	c.1603C>G	c.(1603-1605)Cta>Gta	p.L535V	PRSS36_ENST00000418068.2_Missense_Mutation_p.L535V|PRSS36_ENST00000569305.1_Missense_Mutation_p.L530V	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	535	Peptidase S1 2. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	serine-type endopeptidase activity (GO:0004252)			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						CGGGGACGTAGACAGCCACTG	0.582																																						dbGAP											0													95.0	84.0	88.0					16																	31153200		2197	4300	6497	-	-	-	SO:0001583	missense	0			AK075142	CCDS32436.1, CCDS58452.1, CCDS58453.1	16p11.2	2014-09-04			ENSG00000178226			"""Serine peptidases / Serine peptidases"""	26906	protein-coding gene	gene with protein product	"""polyserase 2"""	610560				15536082	Standard	NM_173502		Approved	FLJ90661	uc002ebd.4	Q5K4E3	OTTHUMG00000176751	ENST00000268281.4:c.1603C>G	16.37:g.31153200G>C	ENSP00000268281:p.Leu535Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2P5|B4DW80|B7ZMK8|E7EX56|Q8NBY4	Missense_Mutation	SNP	pirsf_Pept_S1A_polyserase-2,pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6	p.L535V	ENST00000268281.4	37	c.1603	CCDS32436.1	16	.	.	.	.	.	.	.	.	.	.	G	18.80	3.701928	0.68501	.	.	ENSG00000178226	ENST00000268281;ENST00000418068	T;T	0.29655	1.56;1.56	5.15	5.15	0.70609	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (2);	.	.	.	.	T	0.51483	0.1677	L	0.57536	1.79	0.34363	D	0.691239	D;D;D	0.76494	0.999;0.997;0.999	D;D;D	0.85130	0.997;0.978;0.994	T	0.62599	-0.6820	9	0.66056	D	0.02	.	13.9993	0.64424	0.0:0.0:1.0:0.0	.	535;530;535	E7EX56;B7ZMK8;Q5K4E3	.;.;POLS2_HUMAN	V	535	ENSP00000268281:L535V;ENSP00000407160:L535V	ENSP00000268281:L535V	L	-	1	2	PRSS36	31060701	1.000000	0.71417	0.998000	0.56505	0.915000	0.54546	2.729000	0.47327	2.684000	0.91462	0.555000	0.69702	CTA	PRSS36	-	pirsf_Pept_S1A_polyserase-2,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000178226		0.582	PRSS36-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRSS36	HGNC	protein_coding	OTTHUMT00000433542.1	22	0.00	0	G	NM_173502		31153200	31153200	-1	no_errors	ENST00000268281	ensembl	human	known	69_37n	missense	17	29.17	7	SNP	0.998	C
PRSS42	339906	genome.wustl.edu	37	3	46875149	46875149	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:46875149G>C	ENST00000429665.1	-	2	231	c.232C>G	c.(232-234)Ctg>Gtg	p.L78V	PRSS42_ENST00000447340.1_Intron	NM_182702.1	NP_874361.1	Q7Z5A4	PRS42_HUMAN	protease, serine, 42	78					germ cell development (GO:0007281)|spermatogenesis (GO:0007283)	anchored component of plasma membrane (GO:0046658)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	8						ACGATTCTCAGAGGGGTTCGG	0.627																																						dbGAP											0													16.0	20.0	18.0					3																	46875149		2094	4175	6269	-	-	-	SO:0001583	missense	0				CCDS46816.1	3p21.31	2010-05-07			ENSG00000178055	ENSG00000178055		"""Serine peptidases / Serine peptidases"""	30716	protein-coding gene	gene with protein product	"""testis serine protease 2"""					12838346	Standard	NM_182702		Approved	TESSP2	uc011bap.2	Q7Z5A4	OTTHUMG00000156496	ENST00000429665.1:c.232C>G	3.37:g.46875149G>C	ENSP00000401701:p.Leu78Val	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6	p.L78V	ENST00000429665.1	37	c.232	CCDS46816.1	3	.	.	.	.	.	.	.	.	.	.	G	1.140	-0.649780	0.03506	.	.	ENSG00000178055	ENST00000429665	T	0.29397	1.57	3.05	-3.05	0.05396	Peptidase cysteine/serine, trypsin-like (1);	1.618620	0.04361	N	0.357508	T	0.15046	0.0363	N	0.14661	0.345	0.09310	N	1	B	0.24721	0.11	B	0.19148	0.024	T	0.16600	-1.0397	10	0.15499	T	0.54	.	5.6922	0.17835	0.1182:0.1722:0.6012:0.1084	.	78	Q7Z5A4	PRS42_HUMAN	V	78	ENSP00000401701:L78V	ENSP00000401701:L78V	L	-	1	2	PRSS42	46850153	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-1.537000	0.02206	-0.763000	0.04658	0.511000	0.50034	CTG	PRSS42	-	superfamily_Pept_cys/ser_Trypsin-like	ENSG00000178055		0.627	PRSS42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS42	HGNC	protein_coding	OTTHUMT00000344347.1	20	0.00	0	G	NM_182702		46875149	46875149	-1	no_errors	ENST00000429665	ensembl	human	known	69_37n	missense	41	21.15	11	SNP	0.015	C
PRTG	283659	genome.wustl.edu	37	15	55930811	55930811	+	Silent	SNP	T	T	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:55930811T>C	ENST00000389286.4	-	14	2435	c.2388A>G	c.(2386-2388)cgA>cgG	p.R796R		NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		CCACATGTAATCGAACGGCAA	0.393																																						dbGAP											0													66.0	65.0	65.0					15																	55930811		1859	4105	5964	-	-	-	SO:0001819	synonymous_variant	0			AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.2388A>G	15.37:g.55930811T>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	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.R796	ENST00000389286.4	37	c.2388	CCDS42040.1	15																																																																																			PRTG	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000166450		0.393	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRTG	HGNC	protein_coding	OTTHUMT00000419357.1	47	0.00	0	T	NM_173814		55930811	55930811	-1	no_errors	ENST00000389286	ensembl	human	known	69_37n	silent	35	22.22	10	SNP	0.093	C
PRUNE2	158471	genome.wustl.edu	37	9	79321077	79321077	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:79321077G>C	ENST00000376718.3	-	8	6236	c.6113C>G	c.(6112-6114)tCt>tGt	p.S2038C	PRUNE2_ENST00000428286.1_Missense_Mutation_p.S1679C	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2038					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ACTTGGGGTAGAGCCATCCCA	0.512																																						dbGAP											0													87.0	78.0	81.0					9																	79321077		1568	3582	5150	-	-	-	SO:0001583	missense	0			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.6113C>G	9.37:g.79321077G>C	ENSP00000365908:p.Ser2038Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.S1679C	ENST00000376718.3	37	c.5036	CCDS47982.1	9	.	.	.	.	.	.	.	.	.	.	G	1.708	-0.499863	0.04291	.	.	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.49720	0.77;0.78	5.76	1.7	0.24286	.	0.411381	0.21002	N	0.081860	T	0.37785	0.1016	L	0.56769	1.78	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37384	-0.9708	10	0.66056	D	0.02	-2.9524	3.6058	0.08042	0.1152:0.2795:0.4623:0.143	.	2038	Q8WUY3	PRUN2_HUMAN	C	2038;1679;2037	ENSP00000365908:S2038C;ENSP00000397425:S1679C	ENSP00000365908:S2038C	S	-	2	0	PRUNE2	78510897	0.009000	0.17119	0.001000	0.08648	0.040000	0.13550	0.350000	0.20079	0.300000	0.22699	0.655000	0.94253	TCT	PRUNE2	-	NULL	ENSG00000106772		0.512	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PRUNE2	HGNC	protein_coding	OTTHUMT00000052730.2	84	0.00	0	G	NM_138818		79321077	79321077	-1	no_errors	ENST00000428286	ensembl	human	known	69_37n	missense	84	22.22	24	SNP	0.000	C
PRUNE2	158471	genome.wustl.edu	37	9	79321864	79321864	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:79321864C>A	ENST00000376718.3	-	8	5449	c.5326G>T	c.(5326-5328)Gaa>Taa	p.E1776*	PRUNE2_ENST00000428286.1_Nonsense_Mutation_p.E1417*	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1776					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ATCTGCATTTCAGTCTCCGTT	0.468																																						dbGAP											0													132.0	103.0	112.0					9																	79321864		1568	3582	5150	-	-	-	SO:0001587	stop_gained	0			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.5326G>T	9.37:g.79321864C>A	ENSP00000365908:p.Glu1776*	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Nonsense_Mutation	SNP	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.E1417*	ENST00000376718.3	37	c.4249	CCDS47982.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.824093|5.824093	0.96989|0.96989	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033|ENST00000426088	.|.	.|.	.|.	5.73|5.73	2.84|2.84	0.33178|0.33178	.|.	0.226350|.	0.31071|.	N|.	0.008304|.	.|.	.|.	.|.	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999995|0.999995	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.54805|.	T|.	0.06|.	-3.5649|-3.5649	6.9688|6.9688	0.24637|0.24637	0.0:0.7025:0.1427:0.1548|0.0:0.7025:0.1427:0.1548	.|.	.|.	.|.	.|.	X|L	1776;1417;1775|1097	.|.	ENSP00000365908:E1776X|.	E|X	-|-	1|2	0|2	PRUNE2|PRUNE2	78511684|78511684	0.005000|0.005000	0.15991|0.15991	0.099000|0.099000	0.21106|0.21106	0.022000|0.022000	0.10575|0.10575	0.272000|0.272000	0.18644|0.18644	0.417000|0.417000	0.25871|0.25871	-0.140000|-0.140000	0.14226|0.14226	GAA|TGA	PRUNE2	-	NULL	ENSG00000106772		0.468	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PRUNE2	HGNC	protein_coding	OTTHUMT00000052730.2	115	0.86	1	C	NM_138818		79321864	79321864	-1	no_errors	ENST00000428286	ensembl	human	known	69_37n	nonsense	146	17.51	31	SNP	0.038	A
PRUNE2	158471	genome.wustl.edu	37	9	79321897	79321897	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:79321897C>G	ENST00000376718.3	-	8	5416	c.5293G>C	c.(5293-5295)Gat>Cat	p.D1765H	PRUNE2_ENST00000428286.1_Missense_Mutation_p.D1406H	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1765					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GTCCAGGGATCAGGGCTGCTT	0.438																																						dbGAP											0													172.0	135.0	146.0					9																	79321897		1568	3582	5150	-	-	-	SO:0001583	missense	0			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.5293G>C	9.37:g.79321897C>G	ENSP00000365908:p.Asp1765His	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.D1406H	ENST00000376718.3	37	c.4216	CCDS47982.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.53|14.53	2.563888|2.563888	0.45694|0.45694	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033|ENST00000426088	T;T|.	0.53857|.	0.6;0.6|.	6.03|6.03	6.03|6.03	0.97812|0.97812	.|.	0.343008|.	0.25130|.	N|.	0.032920|.	T|.	0.71904|.	0.3395|.	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	D|D	1|1	D|.	0.65815|.	0.995|.	P|.	0.57371|.	0.819|.	T|.	0.67772|.	-0.5584|.	10|.	0.87932|.	D|.	0|.	-7.3706|-7.3706	17.2761|17.2761	0.87115|0.87115	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1765|.	Q8WUY3|.	PRUN2_HUMAN|.	H|S	1765;1406;1764|1086	ENSP00000365908:D1765H;ENSP00000397425:D1406H|.	ENSP00000365908:D1765H|.	D|X	-|-	1|2	0|2	PRUNE2|PRUNE2	78511717|78511717	0.624000|0.624000	0.27102|0.27102	0.958000|0.958000	0.39756|0.39756	0.091000|0.091000	0.18340|0.18340	1.081000|1.081000	0.30791|0.30791	2.861000|2.861000	0.98227|0.98227	0.655000|0.655000	0.94253|0.94253	GAT|TGA	PRUNE2	-	NULL	ENSG00000106772		0.438	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PRUNE2	HGNC	protein_coding	OTTHUMT00000052730.2	131	0.00	0	C	NM_138818		79321897	79321897	-1	no_errors	ENST00000428286	ensembl	human	known	69_37n	missense	173	17.92	38	SNP	0.988	G
PRUNE2	158471	genome.wustl.edu	37	9	79325415	79325415	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:79325415C>T	ENST00000376718.3	-	8	1898	c.1775G>A	c.(1774-1776)gGa>gAa	p.G592E	PRUNE2_ENST00000428286.1_Missense_Mutation_p.G233E	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	592					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GGATTCATCTCCCACAAAATC	0.443																																						dbGAP											0													68.0	61.0	63.0					9																	79325415		1568	3582	5150	-	-	-	SO:0001583	missense	0			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.1775G>A	9.37:g.79325415C>T	ENSP00000365908:p.Gly592Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.G233E	ENST00000376718.3	37	c.698	CCDS47982.1	9	.	.	.	.	.	.	.	.	.	.	C	4.542	0.100573	0.08731	.	.	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.39997	1.05;1.08	5.71	2.56	0.30785	.	0.446097	0.19373	N	0.115854	T	0.22282	0.0537	L	0.27053	0.805	0.80722	D	1	B	0.17465	0.022	B	0.17433	0.018	T	0.05321	-1.0892	10	0.09084	T	0.74	-6.5137	4.0572	0.09823	0.0:0.4435:0.1675:0.389	.	592	Q8WUY3	PRUN2_HUMAN	E	592;233;591	ENSP00000365908:G592E;ENSP00000397425:G233E	ENSP00000365908:G592E	G	-	2	0	PRUNE2	78515235	0.435000	0.25577	0.981000	0.43875	0.938000	0.57974	0.199000	0.17237	0.688000	0.31529	0.655000	0.94253	GGA	PRUNE2	-	NULL	ENSG00000106772		0.443	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PRUNE2	HGNC	protein_coding	OTTHUMT00000052730.2	74	0.00	0	C	NM_138818		79325415	79325415	-1	no_errors	ENST00000428286	ensembl	human	known	69_37n	missense	76	22.45	22	SNP	0.964	T
PSD2	84249	genome.wustl.edu	37	5	139193008	139193008	+	Silent	SNP	C	C	T	rs573050249		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:139193008C>T	ENST00000274710.3	+	3	691	c.486C>T	c.(484-486)gaC>gaT	p.D162D		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	162					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTCCCTAGACGGGCTGAGCC	0.657													C|||	1	0.000199681	0.0	0.0	5008	,	,		16429	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													41.0	43.0	42.0					5																	139193008		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"""Pleckstrin homology (PH) domain containing"""	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.486C>T	5.37:g.139193008C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DQD3|Q8N3J8	Silent	SNP	pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_Pleckstrin_homology,pfscan_Sec7	p.D162	ENST00000274710.3	37	c.486	CCDS4216.1	5																																																																																			PSD2	-	NULL	ENSG00000146005		0.657	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSD2	HGNC	protein_coding	OTTHUMT00000251339.1	26	0.00	0	C	NM_032289		139193008	139193008	+1	no_errors	ENST00000274710	ensembl	human	known	69_37n	silent	19	17.39	4	SNP	0.915	T
PSD3	23362	genome.wustl.edu	37	8	18413859	18413859	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:18413859C>G	ENST00000327040.8	-	15	2890	c.2788G>C	c.(2788-2790)Gag>Cag	p.E930Q	PSD3_ENST00000440756.2_Missense_Mutation_p.E932Q|PSD3_ENST00000286485.8_Missense_Mutation_p.E396Q|PSD3_ENST00000428502.2_Missense_Mutation_p.E259Q|PSD3_ENST00000523619.1_Missense_Mutation_p.E865Q	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	931					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TTCAGTTGCTCCTCCTGCAGG	0.453																																						dbGAP											0													155.0	142.0	146.0					8																	18413859		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"""Pleckstrin homology (PH) domain containing"""	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.2788G>C	8.37:g.18413859C>G	ENSP00000324127:p.Glu930Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Missense_Mutation	SNP	pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7	p.E932Q	ENST00000327040.8	37	c.2794	CCDS43720.1	8	.	.	.	.	.	.	.	.	.	.	C	28.7	4.942076	0.92526	.	.	ENSG00000156011	ENST00000327040;ENST00000440756;ENST00000286485;ENST00000428502;ENST00000523619	T;T;T;T	0.24350	2.55;2.57;1.86;2.55	5.94	5.94	0.96194	.	0.000000	0.49305	U	0.000145	T	0.52789	0.1756	M	0.83312	2.635	0.58432	D	0.999999	P;P;P;D	0.56746	0.928;0.928;0.929;0.977	P;P;P;P	0.59825	0.757;0.757;0.773;0.864	T	0.56263	-0.8008	10	0.87932	D	0	.	17.8532	0.88754	0.0:1.0:0.0:0.0	.	930;931;396;259	E9KL50;Q9NYI0;Q9NYI0-3;B4DKF8	.;PSD3_HUMAN;.;.	Q	930;932;396;259;865	ENSP00000324127:E930Q;ENSP00000401704:E932Q;ENSP00000286485:E396Q;ENSP00000430640:E865Q	ENSP00000286485:E396Q	E	-	1	0	PSD3	18458139	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	7.373000	0.79623	2.816000	0.96949	0.563000	0.77884	GAG	PSD3	-	NULL	ENSG00000156011		0.453	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PSD3	HGNC	protein_coding	OTTHUMT00000374867.1	100	0.00	0	C	NM_015310		18413859	18413859	-1	no_errors	ENST00000440756	ensembl	human	known	69_37n	missense	30	46.43	26	SNP	1.000	G
PSD3	23362	genome.wustl.edu	37	8	18729344	18729344	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:18729344G>C	ENST00000327040.8	-	3	1132	c.1030C>G	c.(1030-1032)Ctc>Gtc	p.L344V	PSD3_ENST00000440756.2_Missense_Mutation_p.L344V|PSD3_ENST00000523619.1_Missense_Mutation_p.L279V	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	344					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		GATGAGATGAGATGGCGTGGC	0.473																																						dbGAP											0													174.0	176.0	176.0					8																	18729344		2047	4208	6255	-	-	-	SO:0001583	missense	0			AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"""Pleckstrin homology (PH) domain containing"""	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.1030C>G	8.37:g.18729344G>C	ENSP00000324127:p.Leu344Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Missense_Mutation	SNP	pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7	p.L344V	ENST00000327040.8	37	c.1030	CCDS43720.1	8	.	.	.	.	.	.	.	.	.	.	G	0.148	-1.094080	0.01858	.	.	ENSG00000156011	ENST00000327040;ENST00000440756;ENST00000523619	T;T;T	0.10099	2.92;2.92;2.91	5.62	1.84	0.25277	.	1.128750	0.06665	N	0.765190	T	0.07954	0.0199	L	0.27053	0.805	0.09310	N	1	B	0.17038	0.02	B	0.17433	0.018	T	0.44757	-0.9307	10	0.16896	T	0.51	.	6.6863	0.23146	0.3823:0.0:0.6177:0.0	.	344	E9KL50	.	V	344;344;279	ENSP00000324127:L344V;ENSP00000401704:L344V;ENSP00000430640:L279V	ENSP00000324127:L344V	L	-	1	0	PSD3	18773624	0.001000	0.12720	0.000000	0.03702	0.022000	0.10575	0.465000	0.22004	0.326000	0.23384	-0.137000	0.14449	CTC	PSD3	-	NULL	ENSG00000156011		0.473	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PSD3	HGNC	protein_coding	OTTHUMT00000374867.1	122	0.00	0	G	NM_015310		18729344	18729344	-1	no_errors	ENST00000440756	ensembl	human	known	69_37n	missense	58	15.94	11	SNP	0.003	C
PSG11	5680	genome.wustl.edu	37	19	43519417	43519417	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:43519417G>C	ENST00000401740.1	-	4	918	c.815C>G	c.(814-816)tCt>tGt	p.S272C	PSG11_ENST00000595312.1_5'Flank|PSG11_ENST00000403486.1_Missense_Mutation_p.S150C|PSG11_ENST00000306322.7_Missense_Mutation_p.S150C|PSG11_ENST00000320078.7_Missense_Mutation_p.S272C			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 11	272	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				AATTGTCCAAGAATACTGTGC	0.458																																						dbGAP											0													152.0	158.0	156.0					19																	43519417		2200	4297	6497	-	-	-	SO:0001583	missense	0			U25988	CCDS12614.2, CCDS12615.2	19q13.2	2013-01-29			ENSG00000243130	ENSG00000243130		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9516	protein-coding gene	gene with protein product	"""pregnancy specific beta-1-glycoprotein 13"""	176401		PSG13, PSG14		7794280	Standard	NM_001113410		Approved	MGC22484	uc002ovm.1	Q9UQ72	OTTHUMG00000151546	ENST00000401740.1:c.815C>G	19.37:g.43519417G>C	ENSP00000384995:p.Ser272Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S272C	ENST00000401740.1	37	c.815	CCDS12614.2	19	.	.	.	.	.	.	.	.	.	.	g	6.490	0.458637	0.12342	.	.	ENSG00000243130	ENST00000320078;ENST00000403486;ENST00000306322;ENST00000401740	T;T;T;T	0.13307	2.6;2.6;2.6;2.6	0.976	-0.244	0.13031	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.32823	0.0842	M	0.89095	3.005	0.09310	N	1	B;D	0.57257	0.014;0.979	B;D	0.63703	0.058;0.917	T	0.12218	-1.0556	9	0.62326	D	0.03	.	2.9069	0.05723	0.3903:0.0:0.6097:0.0	.	150;272	Q9UQ72-2;Q9UQ72	.;PSG11_HUMAN	C	272;150;150;272	ENSP00000319140:S272C;ENSP00000385427:S150C;ENSP00000304913:S150C;ENSP00000384995:S272C	ENSP00000304913:S150C	S	-	2	0	PSG11	48211257	0.000000	0.05858	0.201000	0.23476	0.063000	0.16089	-0.839000	0.04368	0.453000	0.26858	0.184000	0.17185	TCT	PSG11	-	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000243130		0.458	PSG11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PSG11	HGNC	protein_coding	OTTHUMT00000323079.1	153	0.00	0	G	NM_002785		43519417	43519417	-1	no_errors	ENST00000320078	ensembl	human	known	69_37n	missense	105	22.79	31	SNP	0.208	C
PSG9	5678	genome.wustl.edu	37	19	43772168	43772168	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:43772168G>C	ENST00000270077.3	-	2	294	c.198C>G	c.(196-198)ttC>ttG	p.F66L	PSG9_ENST00000596730.1_Missense_Mutation_p.F66L|PSG9_ENST00000443718.3_Missense_Mutation_p.F66L|PSG9_ENST00000593948.1_Missense_Mutation_p.F66L|PSG9_ENST00000244293.7_Missense_Mutation_p.F66L|PSG9_ENST00000291752.5_Missense_Mutation_p.F66L|PSG9_ENST00000418820.2_Missense_Mutation_p.F66L	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	66	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				CTTTGTACCAGAAGTAGCCAG	0.433																																						dbGAP											0													168.0	168.0	168.0					19																	43772168		2203	4300	6503	-	-	-	SO:0001583	missense	0			M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000270077.3:c.198C>G	19.37:g.43772168G>C	ENSP00000270077:p.Phe66Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.F66L	ENST00000270077.3	37	c.198	CCDS12618.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	0.040|0.040	-1.290024|-1.290024	0.01387|0.01387	.|.	.|.	ENSG00000183668|ENSG00000183668	ENST00000270077;ENST00000291752;ENST00000443718;ENST00000244293|ENST00000418820	T;T;T;T|.	0.64618|.	-0.11;-0.11;-0.11;-0.11|.	1.56|1.56	0.468|0.468	0.16732|0.16732	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);|.	.|.	.|.	.|.	.|.	T|T	0.23846|0.23846	0.0577|0.0577	L|L	0.28556|0.28556	0.865|0.865	0.09310|0.09310	N|N	1|1	B;B;B;B;B;B|.	0.25609|.	0.002;0.008;0.019;0.13;0.001;0.002|.	B;B;B;B;B;B|.	0.25884|.	0.012;0.026;0.026;0.064;0.009;0.009|.	T|T	0.24693|0.24693	-1.0153|-1.0153	9|5	0.11794|.	T|.	0.64|.	.|.	4.2029|4.2029	0.10475|0.10475	0.2234:0.0:0.7766:0.0|0.2234:0.0:0.7766:0.0	.|.	66;15;66;66;66;66|.	E7EW65;Q15225;Q15227;G3XAA7;Q6LEU7;Q00887|.	.;.;.;.;.;PSG9_HUMAN|.	L|C	66|53	ENSP00000270077:F66L;ENSP00000291752:F66L;ENSP00000396753:F66L;ENSP00000244293:F66L|.	ENSP00000244293:F66L|.	F|S	-|-	3|2	2|0	PSG9|PSG9	48464008|48464008	0.057000|0.057000	0.20700|0.20700	0.007000|0.007000	0.13788|0.13788	0.001000|0.001000	0.01503|0.01503	-0.201000|-0.201000	0.09464|0.09464	0.224000|0.224000	0.20940|0.20940	-0.736000|-0.736000	0.03550|0.03550	TTC|TCT	PSG9	-	pfam_Ig_V-set,smart_Ig_sub	ENSG00000183668		0.433	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSG9	HGNC	protein_coding	OTTHUMT00000323065.1	236	0.00	0	G	NM_002784		43772168	43772168	-1	no_errors	ENST00000270077	ensembl	human	known	69_37n	missense	141	23.78	44	SNP	0.008	C
PSIP1	11168	genome.wustl.edu	37	9	15472749	15472749	+	Splice_Site	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:15472749C>G	ENST00000380733.4	-	10	1202		c.e10-1		PSIP1_ENST00000380716.4_Splice_Site|PSIP1_ENST00000397519.2_Splice_Site|PSIP1_ENST00000380715.1_Splice_Site|PSIP1_ENST00000380738.4_Splice_Site			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1						establishment of integrated proviral latency (GO:0075713)|mRNA 5'-splice site recognition (GO:0000395)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to heat (GO:0009408)|response to oxidative stress (GO:0006979)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription coactivator activity (GO:0001105)|supercoiled DNA binding (GO:0097100)			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		CTTTTCTCTTCTGTTTTGAGA	0.388																																						dbGAP											0													143.0	128.0	133.0					9																	15472749		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF098482	CCDS6479.1, CCDS6480.1	9p22.2	2008-02-05	2004-02-24		ENSG00000164985	ENSG00000164985			9527	protein-coding gene	gene with protein product		603620	"""PC4 and SFRS1 interacting protein 2"""	PSIP2		9822615, 9885563	Standard	NM_033222		Approved	p52, LEDGF, p75	uc003zlw.4	O75475	OTTHUMG00000021021	ENST00000380733.4:c.859-1G>C	9.37:g.15472749C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DRI9|O00256|O95368|Q6P391|Q86YB9|Q9NZI3|Q9UER6	Splice_Site	SNP	-	e9-1	ENST00000380733.4	37	c.859-1	CCDS6479.1	9	.	.	.	.	.	.	.	.	.	.	C	17.39	3.378735	0.61735	.	.	ENSG00000164985	ENST00000380733;ENST00000380738;ENST00000380715;ENST00000380716;ENST00000397519	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8331	0.92150	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PSIP1	15462749	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.022000	0.64078	2.890000	0.99128	0.585000	0.79938	.	PSIP1	-	-	ENSG00000164985		0.388	PSIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PSIP1	HGNC	protein_coding	OTTHUMT00000055445.1	243	0.00	0	C	NM_033222	Intron	15472749	15472749	-1	no_errors	ENST00000380733	ensembl	human	known	69_37n	splice_site	113	32.94	56	SNP	1.000	G
PSMA5	5686	genome.wustl.edu	37	1	109957929	109957929	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:109957929C>T	ENST00000271308.4	-	3	173	c.153G>A	c.(151-153)gaG>gaA	p.E51E	PSMA5_ENST00000490870.1_5'UTR|PSMA5_ENST00000538610.1_5'UTR	NM_002790.3	NP_002781.2	P28066	PSA5_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 5	51					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)			kidney(1)|large_intestine(2)|lung(2)	5		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.045)|Colorectal(144;0.116)|Epithelial(280;0.187)|all cancers(265;0.196)|LUSC - Lung squamous cell carcinoma(189;0.235)		TAATTCTCTTCTCCACAGCTA	0.438																																						dbGAP											0													161.0	139.0	147.0					1																	109957929		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X61970	CCDS799.1, CCDS55619.1	1p13	2008-02-05			ENSG00000143106	ENSG00000143106		"""Proteasome (prosome, macropain) subunits"""	9534	protein-coding gene	gene with protein product		176844				1888762	Standard	NM_002790		Approved	ZETA	uc001dxn.3	P28066	OTTHUMG00000012001	ENST00000271308.4:c.153G>A	1.37:g.109957929C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8F6|B4E2V4|Q3T1C1|Q6IBF7	Silent	SNP	pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N	p.E51	ENST00000271308.4	37	c.153	CCDS799.1	1																																																																																			PSMA5	-	pfam_Proteasome_sua/b	ENSG00000143106		0.438	PSMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMA5	HGNC	protein_coding	OTTHUMT00000033192.2	80	0.00	0	C	NM_002790		109957929	109957929	-1	no_errors	ENST00000271308	ensembl	human	known	69_37n	silent	46	47.13	41	SNP	1.000	T
PSMC4	5704	genome.wustl.edu	37	19	40480442	40480442	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:40480442G>C	ENST00000157812.2	+	5	679	c.481G>C	c.(481-483)Gat>Cat	p.D161H	PSMC4_ENST00000455878.2_Missense_Mutation_p.D130H	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4	161					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)|ATP catabolic process (GO:0006200)|blastocyst development (GO:0001824)|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)|proteolysis (GO:0006508)|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)|cytosolic proteasome complex (GO:0031597)|inclusion body (GO:0016234)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CCAGAAGCCAGATGTGATGTA	0.637																																					Colon(105;1478 1543 4034 6132 38638)	dbGAP											0													53.0	58.0	56.0					19																	40480442		2203	4300	6503	-	-	-	SO:0001583	missense	0			U27515	CCDS12547.1, CCDS46076.1	19q13.11-q13.13	2010-04-21			ENSG00000013275	ENSG00000013275		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9551	protein-coding gene	gene with protein product	"""protease 26S subunit 6"", ""Tat-binding protein 7"", ""MB67 interacting protein"""	602707		MIP224		9473509, 8603043	Standard	NM_006503		Approved	TBP7, S6, MGC8570, MGC13687, MGC23214, TBP-7	uc002omq.4	P43686		ENST00000157812.2:c.481G>C	19.37:g.40480442G>C	ENSP00000157812:p.Asp161His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96FV5|Q9UBM3|Q9UEX3	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase,tigrfam_26S_Psome_P45	p.D161H	ENST00000157812.2	37	c.481	CCDS12547.1	19	.	.	.	.	.	.	.	.	.	.	g	18.05	3.537543	0.65085	.	.	ENSG00000013275	ENST00000157812;ENST00000455878	D;D	0.95238	-3.65;-3.65	4.85	2.55	0.30701	.	0.000000	0.85682	D	0.000000	D	0.93749	0.8002	L	0.48174	1.505	0.58432	D	0.999999	P;D	0.53745	0.708;0.962	P;P	0.55161	0.642;0.77	D	0.92833	0.6282	10	0.72032	D	0.01	-7.3376	9.4651	0.38809	0.0:0.1552:0.6841:0.1607	.	130;161	P43686-2;P43686	.;PRS6B_HUMAN	H	161;130	ENSP00000157812:D161H;ENSP00000413869:D130H	ENSP00000157812:D161H	D	+	1	0	PSMC4	45172282	1.000000	0.71417	0.787000	0.31911	0.695000	0.40330	9.146000	0.94640	0.999000	0.39023	0.491000	0.48974	GAT	PSMC4	-	tigrfam_26S_Psome_P45	ENSG00000013275		0.637	PSMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMC4	HGNC	protein_coding	OTTHUMT00000462485.1	32	0.00	0	G	NM_006503		40480442	40480442	+1	no_errors	ENST00000157812	ensembl	human	known	69_37n	missense	27	15.62	5	SNP	1.000	C
PSMD14	10213	genome.wustl.edu	37	2	162224044	162224044	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:162224044C>T	ENST00000409682.3	+	4	808	c.104C>T	c.(103-105)tCc>tTc	p.S35F		NM_005805.5	NP_005796.1	O00487	PSDE_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 14	35	MPN.				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)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|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 endopeptidase activity (GO:0010950)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K63-linked deubiquitination (GO:0070536)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle, lid subcomplex (GO:0008541)	endopeptidase activator activity (GO:0061133)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|proteasome binding (GO:0070628)|ubiquitin thiolesterase activity (GO:0004221)			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	12						TATATCTCTTCCCTGGCACTG	0.363																																						dbGAP											0													56.0	58.0	57.0					2																	162224044		1855	4099	5954	-	-	-	SO:0001583	missense	0			U86782	CCDS46437.1	2q14.3	2008-05-22			ENSG00000115233	ENSG00000115233		"""Proteasome (prosome, macropain) subunits"""	16889	protein-coding gene	gene with protein product		607173				9374539	Standard	NM_005805		Approved	POH1, pad1, Rpn11	uc002ubu.3	O00487	OTTHUMG00000153882	ENST00000409682.3:c.104C>T	2.37:g.162224044C>T	ENSP00000386541:p.Ser35Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KNW2|O00176	Missense_Mutation	SNP	pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1	p.S35F	ENST00000409682.3	37	c.104	CCDS46437.1	2	.	.	.	.	.	.	.	.	.	.	C	23.4	4.416142	0.83449	.	.	ENSG00000115233	ENST00000409682;ENST00000437630	T;T	0.59364	0.27;0.27	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.83046	0.5169	M	0.93328	3.405	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	D	0.87274	0.2288	10	0.87932	D	0	-7.0429	19.4714	0.94965	0.0:1.0:0.0:0.0	.	35	O00487	PSDE_HUMAN	F	35	ENSP00000386541:S35F;ENSP00000399311:S35F	ENSP00000386541:S35F	S	+	2	0	PSMD14	161932290	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.615000	0.61190	2.588000	0.87417	0.591000	0.81541	TCC	PSMD14	-	pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1	ENSG00000115233		0.363	PSMD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD14	HGNC	protein_coding	OTTHUMT00000332833.1	61	0.00	0	C	NM_005805		162224044	162224044	+1	no_errors	ENST00000409682	ensembl	human	known	69_37n	missense	58	13.43	9	SNP	1.000	T
PSMD1	5707	genome.wustl.edu	37	2	232035373	232035373	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:232035373G>A	ENST00000308696.6	+	24	2971	c.2809G>A	c.(2809-2811)Gag>Aag	p.E937K	PSMD1_ENST00000373635.4_Missense_Mutation_p.E906K|PSMD1_ENST00000409643.1_Missense_Mutation_p.E906K	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	937	Poly-Glu.				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 protein catabolic process (GO:0042176)|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)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	AAAAATCGAGGAGGAGGAACA	0.468																																						dbGAP											0													104.0	99.0	101.0					2																	232035373		2203	4300	6503	-	-	-	SO:0001583	missense	0			D44466	CCDS2482.1, CCDS54436.1	2q37.1	2008-05-22			ENSG00000173692	ENSG00000173692		"""Proteasome (prosome, macropain) subunits"""	9554	protein-coding gene	gene with protein product						8816993	Standard	NM_002807		Approved	S1, P112, Rpn2	uc002vrn.2	Q99460	OTTHUMG00000133223	ENST00000308696.6:c.2809G>A	2.37:g.232035373G>A	ENSP00000309474:p.Glu937Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Missense_Mutation	SNP	pfam_APC_proteasome,superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn2	p.E937K	ENST00000308696.6	37	c.2809	CCDS2482.1	2	.	.	.	.	.	.	.	.	.	.	G	18.28	3.588437	0.66105	.	.	ENSG00000173692	ENST00000308696;ENST00000373635;ENST00000409643	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	L	0.32530	0.975	0.80722	D	1	P	0.52842	0.956	P	0.62184	0.899	T	0.53330	-0.8454	9	0.06891	T	0.86	-17.5998	19.3542	0.94404	0.0:0.0:1.0:0.0	.	937	Q99460	PSMD1_HUMAN	K	937;906;906	.	ENSP00000309474:E937K	E	+	1	0	PSMD1	231743617	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.468000	0.97676	2.575000	0.86900	0.655000	0.94253	GAG	PSMD1	-	pirsf_26S_Psome_Rpn2	ENSG00000173692		0.468	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD1	HGNC	protein_coding	OTTHUMT00000256958.2	89	0.00	0	G			232035373	232035373	+1	no_errors	ENST00000308696	ensembl	human	known	69_37n	missense	112	13.18	17	SNP	1.000	A
PSMF1	9491	genome.wustl.edu	37	20	1108104	1108104	+	Silent	SNP	G	G	A	rs559251019		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:1108104G>A	ENST00000335877.6	+	3	494	c.318G>A	c.(316-318)ctG>ctA	p.L106L	PSMF1_ENST00000438768.2_Silent_p.L106L|PSMF1_ENST00000381898.4_Silent_p.L18L|PSMF1_ENST00000246015.4_Silent_p.L106L|PSMF1_ENST00000333082.3_Silent_p.L106L	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN	proteasome (prosome, macropain) inhibitor subunit 1 (PI31)	106	Important for homodimerization and interaction with FBXO7.				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 endopeptidase activity (GO:0010951)|negative regulation of proteasomal protein catabolic process (GO:1901799)|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)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome core complex (GO:0005839)	endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						ACTTGACCCTGAACTTGGATG	0.453																																						dbGAP											0													134.0	135.0	135.0					20																	1108104		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D88378	CCDS13010.1	20p13	2008-07-02			ENSG00000125818	ENSG00000125818		"""Proteasome (prosome, macropain) subunits"""	9571	protein-coding gene	gene with protein product	"""proteasome inhibitor hP131 subunit"""					10363639	Standard	NM_006814		Approved	PI31	uc002wen.4	Q92530	OTTHUMG00000031656	ENST00000335877.6:c.318G>A	20.37:g.1108104G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVQ9|D3DVW3|Q9H4I1	Silent	SNP	pfam_Inhibitor_PI31,pfam_PI31_Prot_Reg	p.L106	ENST00000335877.6	37	c.318	CCDS13010.1	20																																																																																			PSMF1	-	pfam_Inhibitor_PI31	ENSG00000125818		0.453	PSMF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMF1	HGNC	protein_coding	OTTHUMT00000077504.2	87	0.00	0	G	NM_178578		1108104	1108104	+1	no_errors	ENST00000333082	ensembl	human	known	69_37n	silent	99	18.18	22	SNP	1.000	A
PTAR1	375743	genome.wustl.edu	37	9	72333514	72333514	+	Intron	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:72333514C>A	ENST00000340434.4	-	8	986				PTAR1_ENST00000377200.5_Missense_Mutation_p.G266V	NM_001099666.1	NP_001093136.1	Q7Z6K3	PTAR1_HUMAN	protein prenyltransferase alpha subunit repeat containing 1						protein prenylation (GO:0018342)		protein prenyltransferase activity (GO:0008318)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)	5						ACTCAAAGTCCCCCCAGGGCT	0.512																																						dbGAP											0													70.0	70.0	70.0					9																	72333514		1947	4148	6095	-	-	-	SO:0001627	intron_variant	0			BC053622	CCDS47978.1	9q21.13	2008-10-01			ENSG00000188647	ENSG00000188647		"""Prenyltransferase alpha subunit repeat containing"""	30449	protein-coding gene	gene with protein product						12477932	Standard	NM_001099666		Approved		uc004ahj.4	Q7Z6K3	OTTHUMG00000019982	ENST00000340434.4:c.983-30G>T	9.37:g.72333514C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T7V5|Q5T7V6	Missense_Mutation	SNP	pfam_Prenyl_trans_a,pfscan_Prenyl_trans_a	p.G266V	ENST00000340434.4	37	c.797	CCDS47978.1	9	.	.	.	.	.	.	.	.	.	.	C	11.54	1.669094	0.29604	.	.	ENSG00000188647	ENST00000377200	T	0.45668	0.89	6.02	0.936	0.19488	.	0.548000	0.17226	N	0.182126	T	0.24774	0.0601	.	.	.	0.40217	D	0.977691	.	.	.	.	.	.	T	0.06844	-1.0804	7	0.13853	T	0.58	.	2.8031	0.05420	0.1116:0.4761:0.1094:0.303	.	.	.	.	V	266	ENSP00000366405:G266V	ENSP00000366405:G266V	G	-	2	0	PTAR1	71523334	0.069000	0.21087	0.146000	0.22360	0.994000	0.84299	0.441000	0.21611	0.128000	0.18479	0.655000	0.94253	GGG	PTAR1	-	NULL	ENSG00000188647		0.512	PTAR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTAR1	HGNC	protein_coding	OTTHUMT00000052582.4	84	0.00	0	C	NM_001099666		72333514	72333514	-1	no_errors	ENST00000377200	ensembl	human	novel	69_37n	missense	64	23.81	20	SNP	0.068	A
PTBP1	5725	genome.wustl.edu	37	19	810754	810754	+	Silent	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:810754C>A	ENST00000349038.4	+	14	1597	c.1524C>A	c.(1522-1524)ctC>ctA	p.L508L	PTBP1_ENST00000394601.4_Silent_p.L527L|PTBP1_ENST00000356948.6_Silent_p.L534L|PTBP1_ENST00000350092.4_Silent_p.L174L|MIR3187_ENST00000583431.1_RNA	NM_031991.3	NP_114368.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	508	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of muscle cell differentiation (GO:0051148)|negative regulation of RNA splicing (GO:0033119)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly-pyrimidine tract binding (GO:0008187)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		TCCAGGCCCTCATTGACCTGC	0.682																																						dbGAP											0													72.0	75.0	74.0					19																	810754		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X60648	CCDS32859.1, CCDS42456.1, CCDS45892.1	19p13.3	2013-07-16	2002-01-25	2002-01-25	ENSG00000011304	ENSG00000011304		"""RNA binding motif (RRM) containing"""	9583	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein I"""	600693	"""polypyrimidine tract binding protein (heterogeneous nuclear ribonucleoprotein I)"""	PTB		1906036, 11024286	Standard	NM_002819		Approved	HNRPI, HNRNP-I, PTB2, PTB3, PTB-1, PTB4, pPTB	uc002lpp.2	P26599		ENST00000349038.4:c.1524C>A	19.37:g.810754C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BUQ0	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	p.L534	ENST00000349038.4	37	c.1602	CCDS32859.1	19																																																																																			PTBP1	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	ENSG00000011304		0.682	PTBP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PTBP1	HGNC	protein_coding	OTTHUMT00000457605.1	39	0.00	0	C			810754	810754	+1	no_errors	ENST00000356948	ensembl	human	known	69_37n	silent	30	37.50	18	SNP	0.988	A
PTCH1	5727	genome.wustl.edu	37	9	98224263	98224263	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:98224263C>G	ENST00000331920.6	-	16	2877	c.2578G>C	c.(2578-2580)Gac>Cac	p.D860H	PTCH1_ENST00000375274.2_Missense_Mutation_p.D859H|PTCH1_ENST00000418258.1_Missense_Mutation_p.D709H|PTCH1_ENST00000421141.1_Missense_Mutation_p.D709H|PTCH1_ENST00000429896.2_Missense_Mutation_p.D709H|PTCH1_ENST00000430669.2_Missense_Mutation_p.D794H|PTCH1_ENST00000437951.1_Missense_Mutation_p.D794H	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	860					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|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 (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CAGTCACTGTCAAATGCATCC	0.498																																						dbGAP											0													184.0	156.0	165.0					9																	98224263		2203	4300	6503	-	-	-	SO:0001583	missense	0			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.2578G>C	9.37:g.98224263C>G	ENSP00000332353:p.Asp860His	Somatic		WXS	Illumina GAIIx	Phase_IV	A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched	p.D860H	ENST00000331920.6	37	c.2578	CCDS6714.1	9	.	.	.	.	.	.	.	.	.	.	C	24.4	4.526816	0.85706	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000375275;ENST00000430669;ENST00000429896;ENST00000375274	D;D;D;D;D;D;D	0.84660	-1.88;-1.88;-1.88;-1.88;-1.88;-1.88;-1.88	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.93106	0.7805	M	0.84219	2.685	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.996;0.999	D	0.93388	0.6749	10	0.66056	D	0.02	-40.1937	19.191	0.93666	0.0:1.0:0.0:0.0	.	794;859;860	Q13635-3;Q13635-2;Q13635	.;.;PTC1_HUMAN	H	860;794;709;709;296;794;709;859	ENSP00000332353:D860H;ENSP00000389744:D794H;ENSP00000399981:D709H;ENSP00000396135:D709H;ENSP00000410287:D794H;ENSP00000414823:D709H;ENSP00000364423:D859H	ENSP00000332353:D860H	D	-	1	0	PTCH1	97264084	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.286000	0.78671	2.772000	0.95346	0.655000	0.94253	GAC	PTCH1	-	pfam_Patched,tigrfam_TM_rcpt_patched	ENSG00000185920		0.498	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCH1	HGNC	protein_coding	OTTHUMT00000053229.2	142	0.00	0	C	NM_000264		98224263	98224263	-1	no_errors	ENST00000331920	ensembl	human	known	69_37n	missense	164	22.64	48	SNP	1.000	G
PTGIS	5740	genome.wustl.edu	37	20	48130909	48130909	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:48130909G>C	ENST00000244043.4	-	7	908	c.879C>G	c.(877-879)ttC>ttG	p.F293L	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	293					apoptotic signaling pathway (GO:0097190)|arachidonic acid metabolic process (GO:0019369)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|positive regulation of angiogenesis (GO:0045766)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|prostaglandin-I synthase activity (GO:0008116)			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Epoprostenol(DB01240)|Phenylbutazone(DB00812)	GCAGGAGCCAGAAGGCAGCGG	0.602																																						dbGAP											0													39.0	35.0	36.0					20																	48130909		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13419.1	20q13	2013-11-18			ENSG00000124212	ENSG00000124212	5.3.99.4	"""Cytochrome P450s"""	9603	protein-coding gene	gene with protein product	"""cytochrome P450, family 8, subfamily A, polypeptide 1"""	601699				8812456	Standard	NM_000961		Approved	PGIS, CYP8A1	uc002xut.3	Q16647	OTTHUMG00000033077	ENST00000244043.4:c.879C>G	20.37:g.48130909G>C	ENSP00000244043:p.Phe293Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3MII8|Q9HAX2|Q9HAX3|Q9HAX4	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I	p.F293L	ENST00000244043.4	37	c.879	CCDS13419.1	20	.	.	.	.	.	.	.	.	.	.	G	18.14	3.557140	0.65425	.	.	ENSG00000124212	ENST00000244043	T	0.68181	-0.31	4.1	3.13	0.36017	.	0.000000	0.85682	D	0.000000	T	0.79246	0.4413	M	0.85197	2.74	0.50813	D	0.999892	D	0.89917	1.0	D	0.91635	0.999	T	0.79465	-0.1792	10	0.59425	D	0.04	-21.2731	5.7325	0.18049	0.2281:0.0:0.7719:0.0	.	293	Q16647	PTGIS_HUMAN	L	293	ENSP00000244043:F293L	ENSP00000244043:F293L	F	-	3	2	PTGIS	47564316	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	2.607000	0.46300	1.995000	0.58328	0.561000	0.74099	TTC	PTGIS	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I	ENSG00000124212		0.602	PTGIS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGIS	HGNC	protein_coding	OTTHUMT00000080496.2	20	0.00	0	G			48130909	48130909	-1	no_errors	ENST00000244043	ensembl	human	known	69_37n	missense	33	23.26	10	SNP	1.000	C
PTGS2	5743	genome.wustl.edu	37	1	186646840	186646840	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:186646840G>A	ENST00000367468.5	-	5	716	c.580C>T	c.(580-582)Cag>Tag	p.Q194*	RP5-973M2.2_ENST00000608917.1_lincRNA|PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	194					anagen (GO:0042640)|angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|brown fat cell differentiation (GO:0050873)|cellular component movement (GO:0006928)|cellular response to ATP (GO:0071318)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|cyclooxygenase pathway (GO:0019371)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|learning (GO:0007612)|lipoxygenase pathway (GO:0019372)|maintenance of blood-brain barrier (GO:0035633)|memory (GO:0007613)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|ovulation (GO:0030728)|positive regulation of apoptotic process (GO:0043065)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of fever generation (GO:0031622)|positive regulation of fibroblast growth factor production (GO:0090271)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasoconstriction (GO:0045907)|positive regulation vascular endothelial growth factor production (GO:0010575)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|regulation of blood pressure (GO:0008217)|regulation of inflammatory response (GO:0050727)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to fructose (GO:0009750)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to manganese ion (GO:0010042)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|response to vitamin D (GO:0033280)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)	arachidonate 15-lipoxygenase activity (GO:0050473)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	TTGAAAAACTGATGCGTGAAG	0.423																																						dbGAP											0													117.0	120.0	119.0					1																	186646840		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	1.14.99.1		9605	protein-coding gene	gene with protein product		600262				1380156	Standard	NM_000963		Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.580C>T	1.37:g.186646840G>A	ENSP00000356438:p.Gln194*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K802|Q16876	Nonsense_Mutation	SNP	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,prints_Haem_peroxidase_animal_subgr,pfscan_EG-like_dom,pfscan_Haem_peroxidase_animal	p.Q194*	ENST00000367468.5	37	c.580	CCDS1371.1	1	.	.	.	.	.	.	.	.	.	.	G	38	6.729914	0.97796	.	.	ENSG00000073756	ENST00000367468	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-19.9586	20.0465	0.97608	0.0:0.0:1.0:0.0	.	.	.	.	X	194	.	ENSP00000356438:Q194X	Q	-	1	0	PTGS2	184913463	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.622000	0.98378	2.735000	0.93741	0.557000	0.71058	CAG	PTGS2	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,prints_Haem_peroxidase_animal_subgr,pfscan_Haem_peroxidase_animal	ENSG00000073756		0.423	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGS2	HGNC	protein_coding	OTTHUMT00000086157.2	100	0.00	0	G	NM_000963		186646840	186646840	-1	no_errors	ENST00000367468	ensembl	human	known	69_37n	nonsense	107	16.28	21	SNP	1.000	A
PTK2	5747	genome.wustl.edu	37	8	141684440	141684440	+	Missense_Mutation	SNP	G	G	A	rs542542126	byFrequency	TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:141684440G>A	ENST00000522684.1	-	29	2895	c.2666C>T	c.(2665-2667)gCc>gTc	p.A889V	PTK2_ENST00000538769.1_Missense_Mutation_p.A557V|PTK2_ENST00000521059.1_Missense_Mutation_p.A889V|PTK2_ENST00000430260.2_Missense_Mutation_p.A199V|PTK2_ENST00000395218.2_Missense_Mutation_p.A899V|PTK2_ENST00000340930.3_Missense_Mutation_p.A899V|PTK2_ENST00000519465.1_Missense_Mutation_p.A517V|PTK2_ENST00000519419.1_Missense_Mutation_p.A933V|PTK2_ENST00000517887.1_Missense_Mutation_p.A933V|PTK2_ENST00000535192.1_Missense_Mutation_p.A843V	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	889	Interaction with TGFB1I1.|Pro-rich.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			GCTGAGGCTGGCAAGGCTTCC	0.577													G|||	2	0.000399361	0.0	0.0	5008	,	,		19009	0.0		0.0	False		,,,				2504	0.002					dbGAP											0													48.0	40.0	43.0					8																	141684440		2203	4300	6503	-	-	-	SO:0001583	missense	0			L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9611	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 71"""	600758	"""PTK2 protein tyrosine kinase 2"""			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.2666C>T	8.37:g.141684440G>A	ENSP00000429911:p.Ala889Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E2N6|F5H4S4|Q14291|Q9UD85	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_cat_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A899V	ENST00000522684.1	37	c.2696	CCDS6381.1	8	.	.	.	.	.	.	.	.	.	.	G	20.3	3.975687	0.74360	.	.	ENSG00000169398	ENST00000522684;ENST00000535192;ENST00000519465;ENST00000517887;ENST00000521059;ENST00000395214;ENST00000395218;ENST00000354438;ENST00000395221;ENST00000523539;ENST00000340930;ENST00000538769;ENST00000519419;ENST00000430260;ENST00000521986	T;T;T;T;T;T;T;T;T;T;T;T	0.76316	-0.97;-1.01;-0.97;-0.97;-0.97;-0.96;-0.96;-0.96;-0.95;-0.97;1.46;-0.96	5.96	5.96	0.96718	.	0.288673	0.38272	N	0.001751	T	0.70150	0.3191	N	0.19112	0.55	0.46131	D	0.998884	B;B;B;B;B;B;B;B;B;B	0.26935	0.072;0.087;0.148;0.1;0.054;0.1;0.04;0.043;0.031;0.164	B;B;B;B;B;B;B;B;B;B	0.31337	0.05;0.031;0.05;0.024;0.034;0.014;0.044;0.128;0.034;0.034	T	0.64153	-0.6474	10	0.34782	T	0.22	.	20.4192	0.99033	0.0:0.0:1.0:0.0	.	899;584;809;889;911;843;841;716;557;517	B4E2N6;B4DH13;Q59GN8;Q05397;Q658W2;Q8IYN9;Q59GM6;Q05397-2;Q8N9D7;E9PEI4	.;.;.;FAK1_HUMAN;.;.;.;.;.;.	V	889;843;517;933;889;841;899;810;584;561;899;557;933;199;587	ENSP00000429911:A889V;ENSP00000438009:A843V;ENSP00000429170:A517V;ENSP00000429082:A933V;ENSP00000429474:A889V;ENSP00000378644:A899V;ENSP00000428492:A561V;ENSP00000341189:A899V;ENSP00000445742:A557V;ENSP00000429129:A933V;ENSP00000403416:A199V;ENSP00000430603:A587V	ENSP00000341189:A899V	A	-	2	0	PTK2	141753622	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.547000	0.98100	2.831000	0.97527	0.650000	0.86243	GCC	PTK2	-	NULL	ENSG00000169398		0.577	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTK2	HGNC	protein_coding	OTTHUMT00000378054.5	44	0.00	0	G	NM_005607		141684440	141684440	-1	no_errors	ENST00000395218	ensembl	human	known	69_37n	missense	76	11.63	10	SNP	1.000	A
PTPDC1	138639	genome.wustl.edu	37	9	96847012	96847012	+	Intron	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:96847012G>A	ENST00000375360.3	+	3	422				PTPDC1_ENST00000288976.3_Missense_Mutation_p.S67N	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1						cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						TCCTCAGTCAGCCATGCAGAG	0.527																																						dbGAP											0													68.0	64.0	65.0					9																	96847012		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			BC051654	CCDS6707.1, CCDS6708.1, CCDS75860.1	9q22.32	2011-06-09			ENSG00000158079	ENSG00000158079		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	30184	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase PTP9Q22"""					14702039	Standard	NM_152422		Approved	PTP9Q22, FLJ37312	uc010mrj.2	A2A3K4	OTTHUMG00000020258	ENST00000375360.3:c.83-521G>A	9.37:g.96847012G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	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	p.S67N	ENST00000375360.3	37	c.200	CCDS6707.1	9	.	.	.	.	.	.	.	.	.	.	.	6.982	0.551184	0.13374	.	.	ENSG00000158079	ENST00000288976	T	0.13196	2.61	5.97	5.07	0.68467	.	0.653770	0.14315	N	0.327384	T	0.14787	0.0357	L	0.36672	1.1	0.20074	N	0.999935	B;B	0.12630	0.003;0.006	B;B	0.10450	0.002;0.005	T	0.16247	-1.0409	10	0.33141	T	0.24	-6.0918	17.419	0.87510	0.0659:0.0:0.9341:0.0	.	67;67	E7EN59;A2A3K4-2	.;.	N	67	ENSP00000288976:S67N	ENSP00000288976:S67N	S	+	2	0	PTPDC1	95886833	1.000000	0.71417	0.373000	0.26003	0.116000	0.19942	2.618000	0.46393	0.876000	0.35872	-1.094000	0.02160	AGC	PTPDC1	-	NULL	ENSG00000158079		0.527	PTPDC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPDC1	HGNC	protein_coding	OTTHUMT00000215007.1	16	0.00	0	G	NM_177995, NM_152422		96847012	96847012	+1	no_errors	ENST00000288976	ensembl	human	putative	69_37n	missense	19	20.83	5	SNP	0.987	A
PTPN13	5783	genome.wustl.edu	37	4	87653744	87653744	+	Splice_Site	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:87653744G>C	ENST00000411767.2	+	12	1746		c.e12-1		PTPN13_ENST00000511467.1_Splice_Site|PTPN13_ENST00000316707.6_Splice_Site|PTPN13_ENST00000427191.2_Splice_Site|PTPN13_ENST00000436978.1_Splice_Site			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)						peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TTCAATTGTAGACTAAGAAAG	0.308																																						dbGAP											0													84.0	77.0	79.0					4																	87653744		1814	4075	5889	-	-	-	SO:0001630	splice_region_variant	0				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.1684-1G>C	4.37:g.87653744G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Splice_Site	SNP	-	e11-1	ENST00000411767.2	37	c.1684-1	CCDS47094.1	4	.	.	.	.	.	.	.	.	.	.	G	8.576	0.881131	0.17467	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	.	.	.	5.54	4.69	0.59074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3675	0.83338	0.0:0.1322:0.8678:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTPN13	87872768	1.000000	0.71417	0.295000	0.24960	0.005000	0.04900	7.203000	0.77864	1.315000	0.45114	-0.302000	0.09304	.	PTPN13	-	-	ENSG00000163629		0.308	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPN13	HGNC	protein_coding	OTTHUMT00000363191.1	78	0.00	0	G		Intron	87653744	87653744	+1	no_errors	ENST00000436978	ensembl	human	known	69_37n	splice_site	48	46.67	42	SNP	1.000	C
PTPN13	5783	genome.wustl.edu	37	4	87653856	87653856	+	Missense_Mutation	SNP	G	G	A	rs61757790	byFrequency	TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:87653856G>A	ENST00000411767.2	+	12	1858	c.1795G>A	c.(1795-1797)Gat>Aat	p.D599N	PTPN13_ENST00000511467.1_Missense_Mutation_p.D599N|PTPN13_ENST00000316707.6_Missense_Mutation_p.D599N|PTPN13_ENST00000427191.2_Missense_Mutation_p.D599N|PTPN13_ENST00000436978.1_Missense_Mutation_p.D599N			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	599	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AGATGTGTTTGATATGGTTGT	0.373																																						dbGAP											0													124.0	117.0	119.0					4																	87653856		1910	4139	6049	-	-	-	SO:0001583	missense	0				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.1795G>A	4.37:g.87653856G>A	ENSP00000407249:p.Asp599Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.D599N	ENST00000411767.2	37	c.1795	CCDS47094.1	4	.	.	.	.	.	.	.	.	.	.	G	14.89	2.671306	0.47781	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15;-1.15	5.31	4.45	0.53987	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.000000	0.48767	D	0.000166	D	0.84197	0.5419	L	0.59967	1.855	0.58432	D	0.999998	P;D;D;D	0.89917	0.494;1.0;1.0;1.0	P;D;D;D	0.97110	0.479;1.0;1.0;1.0	T	0.80834	-0.1205	10	0.15066	T	0.55	.	15.2479	0.73521	0.0:0.0:0.8582:0.1418	.	599;599;599;599	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	N	599;599;599;599;599;567	ENSP00000408368:D599N;ENSP00000394794:D599N;ENSP00000322675:D599N;ENSP00000407249:D599N;ENSP00000426626:D599N	ENSP00000322675:D599N	D	+	1	0	PTPN13	87872880	1.000000	0.71417	0.939000	0.37840	0.000000	0.00434	9.837000	0.99465	1.203000	0.43233	-0.311000	0.09066	GAT	PTPN13	-	pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain	ENSG00000163629		0.373	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPN13	HGNC	protein_coding	OTTHUMT00000363191.1	109	0.00	0	G			87653856	87653856	+1	no_errors	ENST00000436978	ensembl	human	known	69_37n	missense	57	49.11	55	SNP	1.000	A
PTPN13	5783	genome.wustl.edu	37	4	87671906	87671906	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:87671906C>G	ENST00000411767.2	+	18	2997	c.2934C>G	c.(2932-2934)ctC>ctG	p.L978L	PTPN13_ENST00000511467.1_Silent_p.L978L|PTPN13_ENST00000316707.6_Intron|PTPN13_ENST00000427191.2_Silent_p.L978L|PTPN13_ENST00000436978.1_Silent_p.L978L			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	978					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AGGCCTCTCTCTATCCACATC	0.433																																						dbGAP											0													51.0	48.0	49.0					4																	87671906		1897	4119	6016	-	-	-	SO:0001819	synonymous_variant	0				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.2934C>G	4.37:g.87671906C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Silent	SNP	pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.L978	ENST00000411767.2	37	c.2934	CCDS47094.1	4																																																																																			PTPN13	-	pirsf_Tyr_Pase_non-rcpt_typ-13	ENSG00000163629		0.433	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPN13	HGNC	protein_coding	OTTHUMT00000363191.1	55	0.00	0	C			87671906	87671906	+1	no_errors	ENST00000436978	ensembl	human	known	69_37n	silent	47	22.95	14	SNP	0.969	G
PTPN13	5783	genome.wustl.edu	37	4	87707075	87707075	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:87707075G>C	ENST00000411767.2	+	40	6394	c.6331G>C	c.(6331-6333)Gag>Cag	p.E2111Q	PTPN13_ENST00000511467.1_Missense_Mutation_p.E2116Q|PTPN13_ENST00000316707.6_Missense_Mutation_p.E1920Q|PTPN13_ENST00000427191.2_Missense_Mutation_p.E2092Q|PTPN13_ENST00000436978.1_Missense_Mutation_p.E2116Q			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	2111					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		ACCTTTACCTGAGTATTTTAC	0.368																																						dbGAP											0													56.0	51.0	53.0					4																	87707075		1866	4092	5958	-	-	-	SO:0001583	missense	0				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.6331G>C	4.37:g.87707075G>C	ENSP00000407249:p.Glu2111Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.E2116Q	ENST00000411767.2	37	c.6346	CCDS47094.1	4	.	.	.	.	.	.	.	.	.	.	G	5.053	0.195372	0.09599	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.56103	0.49;0.51;0.6;0.48;0.51	5.04	2.36	0.29203	.	0.136283	0.32753	N	0.005686	T	0.48114	0.1482	M	0.69823	2.125	0.34188	D	0.671692	B;B;B;B	0.18968	0.0;0.032;0.019;0.032	B;B;B;B	0.19148	0.005;0.024;0.011;0.024	T	0.53158	-0.8478	10	0.56958	D	0.05	.	7.4096	0.27009	0.1557:0.1381:0.7062:0.0	.	1920;2092;2111;2116	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	Q	2092;2116;1920;2111;2116;2060	ENSP00000408368:E2092Q;ENSP00000394794:E2116Q;ENSP00000322675:E1920Q;ENSP00000407249:E2111Q;ENSP00000426626:E2116Q	ENSP00000322675:E1920Q	E	+	1	0	PTPN13	87926099	1.000000	0.71417	0.006000	0.13384	0.051000	0.14879	1.895000	0.39778	0.239000	0.21243	-0.384000	0.06662	GAG	PTPN13	-	pirsf_Tyr_Pase_non-rcpt_typ-13	ENSG00000163629		0.368	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPN13	HGNC	protein_coding	OTTHUMT00000363191.1	56	0.00	0	G			87707075	87707075	+1	no_errors	ENST00000436978	ensembl	human	known	69_37n	missense	44	15.38	8	SNP	0.984	C
PTPN13	5783	genome.wustl.edu	37	4	87724873	87724873	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:87724873C>T	ENST00000411767.2	+	43	6580	c.6517C>T	c.(6517-6519)Ctg>Ttg	p.L2173L	PTPN13_ENST00000511467.1_Silent_p.L2178L|PTPN13_ENST00000316707.6_Silent_p.L1982L|PTPN13_ENST00000427191.2_Silent_p.L2154L|PTPN13_ENST00000436978.1_Silent_p.L2178L			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	2173					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TCATTCCTTTCTGACAAACGA	0.428																																						dbGAP											0													159.0	149.0	152.0					4																	87724873		1895	4112	6007	-	-	-	SO:0001819	synonymous_variant	0				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.6517C>T	4.37:g.87724873C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Silent	SNP	pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.L2178	ENST00000411767.2	37	c.6532	CCDS47094.1	4																																																																																			PTPN13	-	pirsf_Tyr_Pase_non-rcpt_typ-13	ENSG00000163629		0.428	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPN13	HGNC	protein_coding	OTTHUMT00000363191.1	140	0.00	0	C			87724873	87724873	+1	no_errors	ENST00000436978	ensembl	human	known	69_37n	silent	117	22.00	33	SNP	0.976	T
PTPN22	26191	genome.wustl.edu	37	1	114402066	114402066	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:114402066G>T	ENST00000359785.5	-	2	239	c.104C>A	c.(103-105)tCt>tAt	p.S35Y	PTPN22_ENST00000528414.1_Missense_Mutation_p.S35Y|PTPN22_ENST00000525799.1_Missense_Mutation_p.S35Y|AP4B1-AS1_ENST00000419536.1_RNA|PTPN22_ENST00000460620.1_Missense_Mutation_p.S35Y|PTPN22_ENST00000534519.1_5'UTR|PTPN22_ENST00000420377.2_Missense_Mutation_p.S35Y|PTPN22_ENST00000538253.1_5'UTR	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	35	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of T cell activation (GO:0050868)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphoanandamide dephosphorylation (GO:0035644)|protein dephosphorylation (GO:0006470)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of innate immune response (GO:0045088)|regulation of natural killer cell proliferation (GO:0032817)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	kinase binding (GO:0019900)|protein tyrosine phosphatase activity (GO:0004725)|SH3 domain binding (GO:0017124)			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		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)		GTACTTGGTAGATTGCCTTTT	0.373																																						dbGAP											0													151.0	150.0	150.0					1																	114402066		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF001846	CCDS863.1, CCDS864.1, CCDS864.2	1p13.2	2011-06-09	2005-02-02		ENSG00000134242	ENSG00000134242		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9652	protein-coding gene	gene with protein product		600716	"""protein tyrosine phosphatase, non-receptor type 8"""	PTPN8		10068674, 1373816	Standard	NM_015967		Approved	Lyp, Lyp1, Lyp2	uc001eds.3	Q9Y2R2	OTTHUMG00000011936	ENST00000359785.5:c.104C>A	1.37:g.114402066G>T	ENSP00000352833:p.Ser35Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A0N0K6|B1ALC8|D4NZ71|E9PLD8|E9PPI1|O95063|O95064|Q6IPX8|Q8WVM1	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Non-rcpt_Tyr_Pase_8/22,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.S35Y	ENST00000359785.5	37	c.104	CCDS863.1	1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.737448	0.69304	.	.	ENSG00000134242	ENST00000460620;ENST00000359785;ENST00000528414;ENST00000420377;ENST00000525799;ENST00000354605	T;T;T;T;T	0.13901	2.77;3.56;2.77;3.45;2.55	5.16	4.24	0.50183	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.132627	0.53938	D	0.000056	T	0.26882	0.0658	M	0.82630	2.6	0.80722	D	1	D;D;D;D;B;D	0.89917	1.0;1.0;1.0;1.0;0.215;1.0	D;D;D;D;B;D	0.91635	0.938;0.99;0.974;0.999;0.209;0.995	T	0.05582	-1.0876	10	0.32370	T	0.25	.	12.6455	0.56731	0.0814:0.0:0.9185:0.0	.	35;35;35;35;35;35	E9PPI1;E9PMT0;E9PLD8;G5E984;Q9Y2R2-5;Q9Y2R2	.;.;.;.;.;PTN22_HUMAN	Y	35	ENSP00000433141:S35Y;ENSP00000352833:S35Y;ENSP00000435176:S35Y;ENSP00000388229:S35Y;ENSP00000432674:S35Y	ENSP00000346621:S35Y	S	-	2	0	PTPN22	114203589	1.000000	0.71417	0.172000	0.22920	0.909000	0.53808	7.094000	0.76944	1.304000	0.44892	0.563000	0.77884	TCT	PTPN22	-	smart_Tyr_Pase_rcpt/non-rcpt,pirsf_Non-rcpt_Tyr_Pase_8/22,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000134242		0.373	PTPN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN22	HGNC	protein_coding	OTTHUMT00000033015.1	161	0.00	0	G	NM_015967		114402066	114402066	-1	no_errors	ENST00000359785	ensembl	human	known	69_37n	missense	103	24.82	34	SNP	0.997	T
PTPN23	25930	genome.wustl.edu	37	3	47451182	47451182	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:47451182G>A	ENST00000265562.4	+	19	2064	c.1987G>A	c.(1987-1989)Gaa>Aaa	p.E663K	PTPN23_ENST00000431726.1_Missense_Mutation_p.E537K	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	663					cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGCCTCGTATGAAGCCTATGA	0.627																																						dbGAP											0													41.0	42.0	42.0					3																	47451182		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.1987G>A	3.37:g.47451182G>A	ENSP00000265562:p.Glu663Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Missense_Mutation	SNP	pfam_BRO1_dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_BRO1_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.E663K	ENST00000265562.4	37	c.1987	CCDS2754.1	3	.	.	.	.	.	.	.	.	.	.	G	23.8	4.456136	0.84209	.	.	ENSG00000076201	ENST00000456408;ENST00000265562	T	0.29397	1.57	4.22	4.22	0.49857	.	0.274240	0.33712	N	0.004633	T	0.46073	0.1374	L	0.56769	1.78	0.80722	D	1	B;D	0.58620	0.235;0.983	B;P	0.57425	0.22;0.82	T	0.44452	-0.9327	10	0.48119	T	0.1	-12.0971	15.5092	0.75766	0.0:0.0:1.0:0.0	.	537;663	B4DST5;Q9H3S7	.;PTN23_HUMAN	K	628;663	ENSP00000265562:E663K	ENSP00000265562:E663K	E	+	1	0	PTPN23	47426186	1.000000	0.71417	0.756000	0.31282	0.740000	0.42216	9.481000	0.97933	2.181000	0.69327	0.462000	0.41574	GAA	PTPN23	-	NULL	ENSG00000076201		0.627	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN23	HGNC	protein_coding	OTTHUMT00000257492.2	23	0.00	0	G	NM_015466		47451182	47451182	+1	no_errors	ENST00000265562	ensembl	human	known	69_37n	missense	37	21.28	10	SNP	0.997	A
PTPN4	5775	genome.wustl.edu	37	2	120677737	120677737	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:120677737C>G	ENST00000263708.2	+	12	1692	c.921C>G	c.(919-921)ttC>ttG	p.F307L	snoU13_ENST00000459555.1_RNA	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	307	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	ATCACACATTCTTCCGTTTGG	0.338																																						dbGAP											0													128.0	127.0	127.0					2																	120677737		2202	4300	6502	-	-	-	SO:0001583	missense	0				CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.921C>G	2.37:g.120677737C>G	ENSP00000263708:p.Phe307Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBV8|Q9UDA7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,pfam_PDZ,pfam_FERM-adjacent,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin	p.F307L	ENST00000263708.2	37	c.921	CCDS2129.1	2	.	.	.	.	.	.	.	.	.	.	C	25.3	4.624074	0.87560	.	.	ENSG00000088179	ENST00000263708	D	0.89123	-2.47	5.55	3.72	0.42706	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.95017	0.8387	M	0.92412	3.305	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.95327	0.8426	10	0.87932	D	0	.	10.762	0.46270	0.0:0.796:0.0:0.204	.	307	P29074	PTN4_HUMAN	L	307	ENSP00000263708:F307L	ENSP00000263708:F307L	F	+	3	2	PTPN4	120394207	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.434000	0.34958	1.582000	0.49881	0.655000	0.94253	TTC	PTPN4	-	pfam_FERM_PH-like_C,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_FERM_domain	ENSG00000088179		0.338	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN4	HGNC	protein_coding	OTTHUMT00000254233.2	89	0.00	0	C			120677737	120677737	+1	no_errors	ENST00000263708	ensembl	human	known	69_37n	missense	90	24.37	29	SNP	1.000	G
PTPN9	5780	genome.wustl.edu	37	15	75801285	75801285	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:75801285G>C	ENST00000306726.2	-	6	1124	c.612C>G	c.(610-612)ctC>ctG	p.L204L		NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	204	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|protein tyrosine phosphatase activity (GO:0004725)			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCTTCAGGAGGAGACTGATGA	0.473																																						dbGAP											0													70.0	67.0	68.0					15																	75801285		2197	4294	6491	-	-	-	SO:0001819	synonymous_variant	0				CCDS10280.1	15q23	2011-06-09			ENSG00000169410	ENSG00000169410		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9661	protein-coding gene	gene with protein product		600768				1557404	Standard	NM_002833		Approved	MEG2	uc002bal.3	P43378	OTTHUMG00000142838	ENST00000306726.2:c.612C>G	15.37:g.75801285G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53XR9	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_CRAL-TRIO_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_CRAL-bd_toc_tran	p.L204	ENST00000306726.2	37	c.612	CCDS10280.1	15																																																																																			PTPN9	-	pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran	ENSG00000169410		0.473	PTPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN9	HGNC	protein_coding	OTTHUMT00000286474.1	60	0.00	0	G			75801285	75801285	-1	no_errors	ENST00000306726	ensembl	human	known	69_37n	silent	44	26.67	16	SNP	1.000	C
PTPRA	5786	genome.wustl.edu	37	20	3016453	3016453	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:3016453G>T	ENST00000216877.6	+	21	2437	c.2037G>T	c.(2035-2037)caG>caT	p.Q679H	PTPRA_ENST00000318266.5_Missense_Mutation_p.Q679H|PTPRA_ENST00000358719.4_Missense_Mutation_p.Q544H|PTPRA_ENST00000380393.3_Missense_Mutation_p.Q688H|PTPRA_ENST00000425918.2_Missense_Mutation_p.Q699H|PTPRA_ENST00000356147.3_Missense_Mutation_p.Q679H|PTPRA_ENST00000399903.2_Missense_Mutation_p.Q688H	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	688	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AGAGCCGGCAGATCCGGCAGT	0.587																																						dbGAP											0													48.0	50.0	49.0					20																	3016453		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.2037G>T	20.37:g.3016453G>T	ENSP00000216877:p.Gln679His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Missense_Mutation	SNP	pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.Q699H	ENST00000216877.6	37	c.2097	CCDS13039.1	20	.	.	.	.	.	.	.	.	.	.	G	15.57	2.873697	0.51695	.	.	ENSG00000132670	ENST00000380393;ENST00000216877;ENST00000399903;ENST00000358719;ENST00000542217;ENST00000425918;ENST00000318266;ENST00000356147	D;D;D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74	5.57	4.61	0.57282	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.216213	0.39210	U	0.001438	T	0.74921	0.3780	N	0.16037	0.36	0.48288	D	0.999627	B;P;B	0.51537	0.002;0.946;0.001	B;P;B	0.45913	0.006;0.497;0.003	T	0.78588	-0.2146	10	0.56958	D	0.05	.	14.8781	0.70510	0.07:0.0:0.93:0.0	.	699;688;679	B7Z2A4;P18433;P18433-4	.;PTPRA_HUMAN;.	H	688;679;688;544;298;699;679;679	ENSP00000369756:Q688H;ENSP00000216877:Q679H;ENSP00000382787:Q688H;ENSP00000351559:Q544H;ENSP00000393553:Q699H;ENSP00000314568:Q679H;ENSP00000348468:Q679H	ENSP00000216877:Q679H	Q	+	3	2	PTPRA	2964453	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.525000	0.45598	1.308000	0.44962	0.563000	0.77884	CAG	PTPRA	-	pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000132670		0.587	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTPRA	HGNC	protein_coding	OTTHUMT00000077682.3	65	0.00	0	G			3016453	3016453	+1	no_errors	ENST00000425918	ensembl	human	known	69_37n	missense	73	12.05	10	SNP	1.000	T
PTPRB	5787	genome.wustl.edu	37	12	70946603	70946603	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:70946603G>C	ENST00000261266.5	-	19	4716	c.4687C>G	c.(4687-4689)Cag>Gag	p.Q1563E	PTPRB_ENST00000550358.1_Missense_Mutation_p.Q1693E|PTPRB_ENST00000538708.1_Missense_Mutation_p.Q1473E|PTPRB_ENST00000334414.6_Missense_Mutation_p.Q1781E|PTPRB_ENST00000550857.1_Missense_Mutation_p.Q1473E|PTPRB_ENST00000451516.2_Missense_Mutation_p.Q1473E	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1563					angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AATTTTTGCTGAGTGGGATCG	0.443																																						dbGAP											0													126.0	121.0	122.0					12																	70946603		1940	4151	6091	-	-	-	SO:0001583	missense	0			X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.4687C>G	12.37:g.70946603G>C	ENSP00000261266:p.Gln1563Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.Q1781E	ENST00000261266.5	37	c.5341	CCDS44944.1	12	.	.	.	.	.	.	.	.	.	.	G	11.78	1.742086	0.30865	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266	T;T;T;T;T;T	0.75704	0.68;0.68;0.68;-0.96;0.68;0.68	5.55	4.64	0.57946	Fibronectin, type III (2);	0.441443	0.26112	N	0.026265	T	0.59715	0.2214	N	0.21097	0.63	0.39156	D	0.962328	B;B;B;B;B	0.17465	0.012;0.012;0.022;0.002;0.021	B;B;B;B;B	0.16722	0.009;0.009;0.009;0.004;0.016	T	0.55042	-0.8202	10	0.10902	T	0.67	.	14.6157	0.68547	0.0:0.277:0.723:0.0	.	1473;1473;1781;1563;1693	P23467-2;F5H3G6;P23467-3;P23467;F8VU56	.;.;.;PTPRB_HUMAN;.	E	1781;1473;1693;1473;1473;1563	ENSP00000334928:Q1781E;ENSP00000393028:Q1473E;ENSP00000448058:Q1693E;ENSP00000438927:Q1473E;ENSP00000447302:Q1473E;ENSP00000261266:Q1563E	ENSP00000261266:Q1563E	Q	-	1	0	PTPRB	69232870	1.000000	0.71417	0.991000	0.47740	0.975000	0.68041	2.170000	0.42443	1.277000	0.44412	0.585000	0.79938	CAG	PTPRB	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3	ENSG00000127329		0.443	PTPRB-007	KNOWN	basic|CCDS	protein_coding	PTPRB	HGNC	protein_coding	OTTHUMT00000404439.1	102	0.00	0	G			70946603	70946603	-1	no_errors	ENST00000334414	ensembl	human	known	69_37n	missense	125	13.79	20	SNP	1.000	C
PTPRD	5789	genome.wustl.edu	37	9	8497247	8497247	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:8497247C>T	ENST00000381196.4	-	23	2887	c.2344G>A	c.(2344-2346)Gaa>Aaa	p.E782K	PTPRD_ENST00000356435.5_Missense_Mutation_p.E782K|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.E769K|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000358503.5_Intron|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000471274.1_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.E782K	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	782	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CTCACATGTTCAGTAGTATCA	0.338										TSP Lung(15;0.13)																												dbGAP											0													81.0	73.0	76.0					9																	8497247		2203	4300	6503	-	-	-	SO:0001583	missense	0			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.2344G>A	9.37:g.8497247C>T	ENSP00000370593:p.Glu782Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt	p.E782K	ENST00000381196.4	37	c.2344	CCDS43786.1	9	.	.	.	.	.	.	.	.	.	.	C	16.85	3.236935	0.58886	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000540109	T;T;T;T	0.58797	0.31;0.31;0.31;0.31	5.95	5.95	0.96441	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.144833	0.50627	D	0.000114	T	0.57681	0.2070	L	0.46819	1.47	0.58432	D	0.999999	B;B	0.23990	0.026;0.095	B;B	0.33121	0.025;0.158	T	0.49495	-0.8934	9	.	.	.	.	20.0128	0.97467	0.0:1.0:0.0:0.0	.	769;782	G3XAE2;P23468	.;PTPRD_HUMAN	K	782;782;769;782	ENSP00000370593:E782K;ENSP00000348812:E782K;ENSP00000353187:E769K;ENSP00000438164:E782K	.	E	-	1	0	PTPRD	8487247	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.380000	0.79704	2.827000	0.97445	0.650000	0.86243	GAA	PTPRD	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000153707		0.338	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3	97	0.00	0	C			8497247	8497247	-1	no_errors	ENST00000356435	ensembl	human	known	69_37n	missense	44	27.87	17	SNP	1.000	T
PTPRF	5792	genome.wustl.edu	37	1	44086512	44086512	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:44086512G>A	ENST00000359947.4	+	32	5708	c.5368G>A	c.(5368-5370)Ggg>Agg	p.G1790R	PTPRF_ENST00000372414.3_Missense_Mutation_p.G1790R|PTPRF_ENST00000438120.1_Missense_Mutation_p.G1781R|PTPRF_ENST00000372413.3_Missense_Mutation_p.G1781R|PTPRF_ENST00000422171.2_Missense_Mutation_p.G1149R|PTPRF_ENST00000496447.1_3'UTR	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1790	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TTCCCAGGATGGGCAGTCAAG	0.562																																						dbGAP											0													69.0	60.0	63.0					1																	44086512		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.5368G>A	1.37:g.44086512G>A	ENSP00000353030:p.Gly1790Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Nonsense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.W1214*	ENST00000359947.4	37	c.3641	CCDS489.2	1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	34|34|34	5.335699|5.335699|5.335699	0.95758|0.95758|0.95758	.|.|.	.|.|.	ENSG00000142949|ENSG00000142949|ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171;ENST00000372407|ENST00000429895|ENST00000412568;ENST00000414879	D;D;D;D;D;D|.|.	0.83335|.|.	-1.71;-1.71;-1.71;-1.71;-1.71;-1.71|.|.	5.13|5.13|5.13	5.13|5.13|5.13	0.70059|0.70059|0.70059	Protein-tyrosine phosphatase, receptor/non-receptor type (3);|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|.	0.72969|0.72969|.	0.3527|0.3527|.	L|L|L	0.60067|0.60067|0.60067	1.865|1.865|1.865	0.80722|0.80722|0.80722	D|D|D	1|1|1	P;D;D;D;D|.|.	0.89917|.|.	0.768;0.993;0.992;1.0;1.0|.|.	B;P;D;D;D|.|.	0.97110|.|.	0.255;0.903;0.946;1.0;0.998|.|.	T|T|.	0.69793|0.69793|.	-0.5049|-0.5049|.	9|5|.	0.41790|.|.	T|.|.	0.15|.|.	.|.|.	19.4788|19.4788|19.4788	0.95000|0.95000|0.95000	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	1435;1149;1367;1781;1790|.|.	Q59FI2;F2Z3B8;Q5W9G3;P10586-2;P10586|.|.	.;.;.;.;PTPRF_HUMAN|.|.	R|I|X	1790;1781;1790;1781;1149;862|1435|1173;1214	ENSP00000353030:G1790R;ENSP00000398822:G1781R;ENSP00000361491:G1790R;ENSP00000361490:G1781R;ENSP00000387885:G1149R;ENSP00000361484:G862R|.|.	ENSP00000353030:G1790R|.|.	G|M|W	+|+|+	1|3|2	0|0|0	PTPRF|PTPRF|PTPRF	43859099|43859099|43859099	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.995000|0.995000|0.995000	0.86356|0.86356|0.86356	9.414000|9.414000|9.414000	0.97362|0.97362|0.97362	2.774000|2.774000|2.774000	0.95407|0.95407|0.95407	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	GGG|ATG|TGG	PTPRF	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000142949		0.562	PTPRF-001	KNOWN	basic|CCDS	protein_coding	PTPRF	HGNC	protein_coding	OTTHUMT00000019710.1	51	0.00	0	G			44086512	44086512	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000414879	ensembl	human	novel	69_37n	nonsense	37	22.92	11	SNP	1.000	A
PTPRG	5793	genome.wustl.edu	37	3	62216898	62216898	+	Splice_Site	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:62216898G>C	ENST00000474889.1	+	14	2665		c.e14-1		PTPRG_ENST00000295874.10_Intron	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G						brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		TGTCCATTTAGAGGGTGTAAC	0.478																																						dbGAP											0													85.0	90.0	88.0					3																	62216898		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.2289-1G>C	3.37:g.62216898G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Splice_Site	SNP	-	e14-1	ENST00000474889.1	37	c.2289-1	CCDS2895.1	3	.	.	.	.	.	.	.	.	.	.	G	19.82	3.899199	0.72754	.	.	ENSG00000144724	ENST00000474889	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4351	0.87549	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTPRG	62191938	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.438000	0.66550	2.884000	0.98904	0.655000	0.94253	.	PTPRG	-	-	ENSG00000144724		0.478	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRG	HGNC	protein_coding	OTTHUMT00000351674.1	187	0.00	0	G	NM_002841	Intron	62216898	62216898	+1	no_errors	ENST00000474889	ensembl	human	known	69_37n	splice_site	152	17.30	32	SNP	1.000	C
PTPRG	5793	genome.wustl.edu	37	3	62254775	62254775	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:62254775G>A	ENST00000474889.1	+	20	3317	c.2940G>A	c.(2938-2940)ctG>ctA	p.L980L	PTPRG-AS1_ENST00000495542.1_RNA|PTPRG_ENST00000295874.10_Silent_p.L951L|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	980	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		TTGTCACGCTGAAGAGCACAA	0.398																																						dbGAP											0													119.0	107.0	111.0					3																	62254775		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.2940G>A	3.37:g.62254775G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt	p.L980	ENST00000474889.1	37	c.2940	CCDS2895.1	3																																																																																			PTPRG	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000144724		0.398	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRG	HGNC	protein_coding	OTTHUMT00000351674.1	65	0.00	0	G	NM_002841		62254775	62254775	+1	no_errors	ENST00000474889	ensembl	human	known	69_37n	silent	77	18.95	18	SNP	1.000	A
PTPRH	5794	genome.wustl.edu	37	19	55703097	55703097	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:55703097C>G	ENST00000376350.3	-	11	2292	c.2270G>C	c.(2269-2271)gGa>gCa	p.G757A	PTPRH_ENST00000263434.5_Missense_Mutation_p.G579A|PTPRH_ENST00000588559.1_5'Flank	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	757					apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CACAAAGGCTCCGGCAATGAC	0.607																																						dbGAP											0													61.0	63.0	62.0					19																	55703097		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.2270G>C	19.37:g.55703097C>G	ENSP00000365528:p.Gly757Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.G757A	ENST00000376350.3	37	c.2270	CCDS33110.1	19	.	.	.	.	.	.	.	.	.	.	C	17.13	3.310644	0.60414	.	.	ENSG00000080031	ENST00000376350;ENST00000263434	T;T	0.07908	3.15;4.17	4.4	4.4	0.53042	.	0.275088	0.20245	N	0.096211	T	0.14098	0.0341	L	0.60455	1.87	0.25426	N	0.988228	P;D	0.58268	0.952;0.982	P;P	0.46885	0.452;0.53	T	0.06058	-1.0848	10	0.46703	T	0.11	.	14.8662	0.70419	0.0:1.0:0.0:0.0	.	579;757	C9JCH2;Q9HD43	.;PTPRH_HUMAN	A	757;579	ENSP00000365528:G757A;ENSP00000263434:G579A	ENSP00000263434:G579A	G	-	2	0	PTPRH	60394909	0.823000	0.29233	0.029000	0.17559	0.312000	0.27988	4.159000	0.58157	2.448000	0.82819	0.555000	0.69702	GGA	PTPRH	-	NULL	ENSG00000080031		0.607	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRH	HGNC	protein_coding	OTTHUMT00000452649.1	36	0.00	0	C			55703097	55703097	-1	no_errors	ENST00000376350	ensembl	human	known	69_37n	missense	48	29.41	20	SNP	0.225	G
PTPRN	5798	genome.wustl.edu	37	2	220161522	220161522	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:220161522C>T	ENST00000295718.2	-	16	2499	c.2259G>A	c.(2257-2259)ctG>ctA	p.L753L	PTPRN_ENST00000497977.1_5'Flank|PTPRN_ENST00000423636.2_Silent_p.L663L|PTPRN_ENST00000409251.3_Silent_p.L724L|MIR153-1_ENST00000384914.1_RNA|AC114803.3_ENST00000417355.1_RNA	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	753	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				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)		TCTCCACCTTCAGTTTTATGC	0.612																																						dbGAP											0													119.0	101.0	107.0					2																	220161522		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				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.2259G>A	2.37:g.220161522C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Silent	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.L753	ENST00000295718.2	37	c.2259	CCDS2440.1	2																																																																																			PTPRN	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000054356		0.612	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRN	HGNC	protein_coding	OTTHUMT00000256819.2	81	0.00	0	C			220161522	220161522	-1	no_errors	ENST00000295718	ensembl	human	known	69_37n	silent	107	18.94	25	SNP	1.000	T
PTPRO	5800	genome.wustl.edu	37	12	15652375	15652375	+	Splice_Site	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:15652375G>T	ENST00000281171.4	+	4	838		c.e4-1		PTPRO_ENST00000543886.1_Splice_Site|PTPRO_ENST00000348962.2_Splice_Site	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O						axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				TCTCTTCACAGATTTCTTTAA	0.313																																						dbGAP											0													71.0	73.0	72.0					12																	15652375		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.509-1G>T	12.37:g.15652375G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Splice_Site	SNP	-	e4-1	ENST00000281171.4	37	c.509-1	CCDS8675.1	12	.	.	.	.	.	.	.	.	.	.	G	21.6	4.176612	0.78564	.	.	ENSG00000151490	ENST00000281171;ENST00000543886;ENST00000348962	.	.	.	4.99	4.99	0.66335	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4628	0.90745	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTPRO	15543642	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	9.257000	0.95545	2.584000	0.87258	0.650000	0.86243	.	PTPRO	-	-	ENSG00000151490		0.313	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRO	HGNC	protein_coding	OTTHUMT00000401079.1	97	0.00	0	G		Intron	15652375	15652375	+1	no_errors	ENST00000281171	ensembl	human	known	69_37n	splice_site	39	25.00	13	SNP	1.000	T
PTPRQ	374462	genome.wustl.edu	37	12	80889016	80889016	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:80889016C>T	ENST00000266688.5	+	17	1736	c.1736C>T	c.(1735-1737)tCa>tTa	p.S579L				Q9UMZ3	PTPRQ_HUMAN	protein tyrosine phosphatase, receptor type, Q	625	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				regulation of fat cell differentiation (GO:0045598)	integral component of membrane (GO:0016021)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(7)|kidney(9)|lung(2)|prostate(1)|skin(2)|stomach(2)	24						attaGTTCTTCATCTATTTTG	0.299																																						dbGAP											0													38.0	31.0	33.0					12																	80889016		692	1585	2277	-	-	-	SO:0001583	missense	0			AF169351	CCDS73501.1	12q21.31	2013-02-11	2001-12-04		ENSG00000139304	ENSG00000139304		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9679	protein-coding gene	gene with protein product		603317	"""deafness, autosomal recessive 84"""	DFNB84		20346435	Standard	NM_001145026		Approved		uc001sze.2	Q9UMZ3	OTTHUMG00000170171	ENST00000266688.5:c.1736C>T	12.37:g.80889016C>T	ENSP00000266688:p.Ser579Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Fibronectin_type3,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	p.S579L	ENST00000266688.5	37	c.1736		12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.77|19.77	3.889658|3.889658	0.72524|0.72524	.|.	.|.	ENSG00000139304|ENSG00000139304	ENST00000532722|ENST00000266688	.|T	.|0.59638	.|0.25	6.03|6.03	6.03|6.03	0.97812|0.97812	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|.	.|.	.|.	.|.	T|T	0.65903|0.65903	0.2736|0.2736	.|.	.|.	.|.	0.50813|0.50813	D|D	0.999893|0.999893	.|P	.|0.41673	.|0.759	.|P	.|0.47299	.|0.543	T|T	0.62220|0.62220	-0.6900|-0.6900	4|8	.|0.42905	.|T	.|0.14	.|.	20.5753|20.5753	0.99366|0.99366	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|625	.|Q9UMZ3	.|PTPRQ_HUMAN	Y|L	280|579	.|ENSP00000266688:S579L	.|ENSP00000266688:S579L	H|S	+|+	1|2	0|0	PTPRQ|PTPRQ	79413147|79413147	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	6.990000|6.990000	0.76225|0.76225	2.868000|2.868000	0.98415|0.98415	0.557000|0.557000	0.71058|0.71058	CAT|TCA	PTPRQ	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000139304		0.299	PTPRQ-201	KNOWN	basic|appris_principal	protein_coding	PTPRQ	HGNC	protein_coding		64	0.00	0	C	NM_001145026		80889016	80889016	+1	no_errors	ENST00000266688	ensembl	human	known	69_37n	missense	40	39.39	26	SNP	1.000	T
PTPRS	5802	genome.wustl.edu	37	19	5221138	5221138	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:5221138G>A	ENST00000587303.1	-	19	3427	c.3328C>T	c.(3328-3330)Cag>Tag	p.Q1110*	PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Nonsense_Mutation_p.Q1088*|PTPRS_ENST00000357368.4_Nonsense_Mutation_p.Q1110*|PTPRS_ENST00000353284.2_Nonsense_Mutation_p.Q679*|PTPRS_ENST00000348075.2_Nonsense_Mutation_p.Q1088*|PTPRS_ENST00000262963.6_Nonsense_Mutation_p.Q1106*|PTPRS_ENST00000372412.4_Nonsense_Mutation_p.Q1111*|PTPRS_ENST00000592099.1_Nonsense_Mutation_p.Q679*			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1110	Fibronectin type-III 8. {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)	ACCGTCTGCTGGAGGCCGCCC	0.607																																						dbGAP											0													120.0	96.0	104.0					19																	5221138		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			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.3328C>T	19.37:g.5221138G>A	ENSP00000467537:p.Gln1110*	Somatic		WXS	Illumina GAIIx	Phase_IV	O75255|O75870|Q15718|Q16341|Q2M3R7	Nonsense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like	p.Q1111*	ENST00000587303.1	37	c.3331	CCDS45930.1	19	.	.	.	.	.	.	.	.	.	.	G	43	9.892914	0.99289	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	.	.	.	3.7	3.7	0.42460	.	0.000000	0.64402	U	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	15.6489	0.77076	0.0:0.0:1.0:0.0	.	.	.	.	X	705;1111;1110;1110;1101;1106;1088;692;683;679	.	ENSP00000262963:Q1106X	Q	-	1	0	PTPRS	5172138	0.999000	0.42202	1.000000	0.80357	0.882000	0.50991	2.886000	0.48578	1.911000	0.55334	0.561000	0.74099	CAG	PTPRS	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000105426		0.607	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRS	HGNC	protein_coding	OTTHUMT00000450762.2	74	0.00	0	G			5221138	5221138	-1	no_errors	ENST00000372412	ensembl	human	known	69_37n	nonsense	59	24.36	19	SNP	0.979	A
PTPRT	11122	genome.wustl.edu	37	20	40747129	40747129	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:40747129C>T	ENST00000373187.1	-	21	2895	c.2896G>A	c.(2896-2898)Gag>Aag	p.E966K	PTPRT_ENST00000356100.2_Missense_Mutation_p.E975K|PTPRT_ENST00000373184.1_Missense_Mutation_p.E956K|PTPRT_ENST00000373193.3_Missense_Mutation_p.E969K|PTPRT_ENST00000373190.1_Missense_Mutation_p.E965K|PTPRT_ENST00000373198.4_Missense_Mutation_p.E985K|PTPRT_ENST00000373201.1_Missense_Mutation_p.E956K			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	966	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TTTACAGTCTCCTGCATCGGA	0.537																																						dbGAP											0													78.0	76.0	77.0					20																	40747129		1992	4170	6162	-	-	-	SO:0001583	missense	0			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.2896G>A	20.37:g.40747129C>T	ENSP00000362283:p.Glu966Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_MAM_dom,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.E988K	ENST00000373187.1	37	c.2962	CCDS42874.1	20	.	.	.	.	.	.	.	.	.	.	C	35	5.440218	0.96168	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49;1.49	5.43	5.43	0.79202	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.000000	0.85682	D	0.000000	T	0.54870	0.1885	L	0.60904	1.88	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.997	T	0.56159	-0.8025	10	0.87932	D	0	.	19.2449	0.93898	0.0:1.0:0.0:0.0	.	988;966	O14522-1;O14522	.;PTPRT_HUMAN	K	965;966;969;975;988;956;956	ENSP00000362286:E965K;ENSP00000362283:E966K;ENSP00000362289:E969K;ENSP00000348408:E975K;ENSP00000362294:E988K;ENSP00000362280:E956K;ENSP00000362297:E956K	ENSP00000348408:E975K	E	-	1	0	PTPRT	40180543	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.763000	0.85283	2.560000	0.86352	0.561000	0.74099	GAG	PTPRT	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	ENSG00000196090		0.537	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	HGNC	protein_coding	OTTHUMT00000080315.1	64	0.00	0	C			40747129	40747129	-1	no_errors	ENST00000373198	ensembl	human	known	69_37n	missense	77	15.38	14	SNP	1.000	T
PTRH1	138428	genome.wustl.edu	37	9	130477846	130477846	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:130477846G>A	ENST00000419060.1	-	2	1529	c.73C>T	c.(73-75)Cgc>Tgc	p.R25C	PTRH1_ENST00000543175.1_Missense_Mutation_p.R25C|TTC16_ENST00000393748.4_5'Flank|PTRH1_ENST00000423807.1_Missense_Mutation_p.R25C|C9orf117_ENST00000373293.5_3'UTR|C9orf117_ENST00000464092.1_3'UTR|PTRH1_ENST00000429848.1_5'Flank|TTC16_ENST00000373289.3_5'Flank			Q86Y79	PTH_HUMAN	peptidyl-tRNA hydrolase 1 homolog (S. cerevisiae)	25						mitochondrion (GO:0005739)	aminoacyl-tRNA hydrolase activity (GO:0004045)|poly(A) RNA binding (GO:0044822)			NS(1)	1						CCCGGGGGGCGAGGCTCCAAA	0.677																																						dbGAP											0													45.0	47.0	46.0					9																	130477846		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK090922	CCDS35147.1	9q34.11	2006-02-13	2006-02-13	2006-02-13	ENSG00000187024	ENSG00000187024			27039	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 115"""	C9orf115			Standard	NM_001002913		Approved	PTH1	uc004bro.3	Q86Y79	OTTHUMG00000020710	ENST00000419060.1:c.73C>T	9.37:g.130477846G>A	ENSP00000418661:p.Arg25Cys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Pept_tRNA_hydro,superfamily_Pept_tRNA_hydro	p.R25C	ENST00000419060.1	37	c.73	CCDS35147.1	9	.	.	.	.	.	.	.	.	.	.	G	31	5.060116	0.93846	.	.	ENSG00000187024	ENST00000423807;ENST00000419060;ENST00000543175	.	.	.	4.7	2.77	0.32553	.	0.437392	0.22817	N	0.055279	T	0.27524	0.0676	N	0.08118	0	0.19300	N	0.999978	D;D	0.76494	0.999;0.995	P;B	0.51657	0.676;0.446	T	0.12319	-1.0552	9	0.72032	D	0.01	-9.751	10.9128	0.47118	0.0:0.3552:0.6448:0.0	.	25;25	C9J7Z1;Q86Y79	.;PTH_HUMAN	C	25	.	ENSP00000418661:R25C	R	-	1	0	PTRH1	129517667	0.556000	0.26538	0.268000	0.24571	0.795000	0.44927	2.023000	0.41040	0.542000	0.28846	0.484000	0.47621	CGC	PTRH1	-	NULL	ENSG00000187024		0.677	PTRH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTRH1	HGNC	protein_coding	OTTHUMT00000054219.4	20	0.00	0	G	NM_001002913		130477846	130477846	-1	no_errors	ENST00000419060	ensembl	human	known	69_37n	missense	28	17.65	6	SNP	0.086	A
PURG	29942	genome.wustl.edu	37	8	30889438	30889438	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:30889438C>T	ENST00000475541.1	-	1	1793	c.861G>A	c.(859-861)ctG>ctA	p.L287L	WRN_ENST00000298139.5_5'Flank|PURG_ENST00000339382.2_Silent_p.L287L	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	287						nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		CACTTACCTTCAGGAAAATTC	0.413																																						dbGAP											0													57.0	57.0	57.0					8																	30889438		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF195513	CCDS34878.1, CCDS6081.1	8p11	2004-02-09			ENSG00000172733	ENSG00000172733			17930	protein-coding gene	gene with protein product						12034829	Standard	NM_013357		Approved	PURG-A, PURG-B	uc003xin.3	Q9UJV8	OTTHUMG00000157357	ENST00000475541.1:c.861G>A	8.37:g.30889438C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TE64	Silent	SNP	pfam_PUR_DNA_RNA-bd,smart_PUR_DNA_RNA-bd	p.L287	ENST00000475541.1	37	c.861	CCDS6081.1	8																																																																																			PURG	-	pfam_PUR_DNA_RNA-bd,smart_PUR_DNA_RNA-bd	ENSG00000172733		0.413	PURG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PURG	HGNC	protein_coding	OTTHUMT00000348565.1	61	0.00	0	C	NM_013357		30889438	30889438	-1	no_errors	ENST00000475541	ensembl	human	known	69_37n	silent	23	43.90	18	SNP	1.000	T
PURG	29942	genome.wustl.edu	37	8	30889906	30889906	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:30889906C>T	ENST00000475541.1	-	1	1325	c.393G>A	c.(391-393)ctG>ctA	p.L131L	WRN_ENST00000298139.5_5'Flank|PURG_ENST00000339382.2_Silent_p.L131L	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	131						nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		GGTGGCCTTTCAGGCCCAGGT	0.592																																						dbGAP											0													84.0	86.0	85.0					8																	30889906		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF195513	CCDS34878.1, CCDS6081.1	8p11	2004-02-09			ENSG00000172733	ENSG00000172733			17930	protein-coding gene	gene with protein product						12034829	Standard	NM_013357		Approved	PURG-A, PURG-B	uc003xin.3	Q9UJV8	OTTHUMG00000157357	ENST00000475541.1:c.393G>A	8.37:g.30889906C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TE64	Silent	SNP	pfam_PUR_DNA_RNA-bd,smart_PUR_DNA_RNA-bd	p.L131	ENST00000475541.1	37	c.393	CCDS6081.1	8																																																																																			PURG	-	pfam_PUR_DNA_RNA-bd	ENSG00000172733		0.592	PURG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PURG	HGNC	protein_coding	OTTHUMT00000348565.1	21	0.00	0	C	NM_013357		30889906	30889906	-1	no_errors	ENST00000475541	ensembl	human	known	69_37n	silent	5	50.00	5	SNP	1.000	T
PUS7	54517	genome.wustl.edu	37	7	105098242	105098242	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:105098242G>A	ENST00000356362.2	-	16	2195	c.1981C>T	c.(1981-1983)Cgc>Tgc	p.R661C	PUS7_ENST00000469408.1_Missense_Mutation_p.R661C	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 (putative)	661					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)	p.R661C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						ACTGCTCAGCGAAGCCAGGTT	0.448																																					Colon(138;2387 3051 17860)	dbGAP											1	Substitution - Missense(1)	lung(1)											251.0	228.0	236.0					7																	105098242		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK128629	CCDS34725.1	7q22.3	2014-02-14	2014-02-14		ENSG00000091127	ENSG00000091127			26033	protein-coding gene	gene with protein product			"""pseudouridylate synthase 7 homolog (S. cerevisiae)"""			11572484	Standard	NM_019042		Approved	FLJ20485	uc003vcx.3	Q96PZ0	OTTHUMG00000157399	ENST00000356362.2:c.1981C>T	7.37:g.105098242G>A	ENSP00000348722:p.Arg661Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q75MG4|Q9NX19	Missense_Mutation	SNP	pfam_PsdUridine_synth_TruD,superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruD_euk,pfscan_PsdUridine_synth_TruD_insert,tigrfam_PsdUridine_synth_TruD	p.R661C	ENST00000356362.2	37	c.1981	CCDS34725.1	7	.	.	.	.	.	.	.	.	.	.	G	23.8	4.463168	0.84425	.	.	ENSG00000091127	ENST00000356362;ENST00000544995;ENST00000469408	T;T	0.52057	0.68;0.68	5.86	5.86	0.93980	.	0.155733	0.64402	D	0.000016	T	0.59390	0.2190	N	0.25647	0.755	0.54753	D	0.999983	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	T	0.61043	-0.7142	10	0.87932	D	0	.	19.5509	0.95319	0.0:0.0:1.0:0.0	.	661;661	B3KY42;Q96PZ0	.;PUS7_HUMAN	C	661	ENSP00000348722:R661C;ENSP00000417402:R661C	ENSP00000348722:R661C	R	-	1	0	PUS7	104885478	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	5.845000	0.69437	2.937000	0.99478	0.650000	0.86243	CGC	PUS7	-	NULL	ENSG00000091127		0.448	PUS7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PUS7	HGNC	protein_coding	OTTHUMT00000348681.1	178	0.00	0	G	NM_019042		105098242	105098242	-1	no_errors	ENST00000356362	ensembl	human	known	69_37n	missense	117	39.06	75	SNP	1.000	A
PUS7L	83448	genome.wustl.edu	37	12	44148574	44148574	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:44148574G>C	ENST00000416848.2	-	2	963	c.475C>G	c.(475-477)Cct>Gct	p.P159A	PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000344862.5_Missense_Mutation_p.P159A|PUS7L_ENST00000551923.1_Missense_Mutation_p.P159A|PUS7L_ENST00000553166.1_Missense_Mutation_p.P159A	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	159					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		GAGAATTCAGGAGGTAGTCCA	0.368																																						dbGAP											0													109.0	108.0	108.0					12																	44148574		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX647494	CCDS8743.1, CCDS61104.1	12q12	2006-02-07				ENSG00000129317			25276	protein-coding gene	gene with protein product						11230166	Standard	NM_001098615		Approved	DKFZP434G1415	uc001rnr.5	Q9H0K6	OTTHUMG00000169423	ENST00000416848.2:c.475C>G	12.37:g.44148574G>C	ENSP00000415899:p.Pro159Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KUJ1|Q05CU0|Q6AHZ3|Q6NUP2	Missense_Mutation	SNP	pfam_PsdUridine_synth_TruD,superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruD_euk,pfscan_PsdUridine_synth_TruD_insert,tigrfam_PsdUridine_synth_TruD	p.P159A	ENST00000416848.2	37	c.475	CCDS8743.1	12	.	.	.	.	.	.	.	.	.	.	G	0.909	-0.719617	0.03182	.	.	ENSG00000129317	ENST00000416848;ENST00000344862;ENST00000551923;ENST00000553166	T;T;T;T	0.21932	2.01;2.01;2.01;1.98	5.26	0.955	0.19602	Pseudouridine synthase, catalytic domain (1);	0.659408	0.14939	N	0.289656	T	0.12689	0.0308	L	0.50919	1.6	0.46011	D	0.998816	B	0.17465	0.022	B	0.11329	0.006	T	0.16100	-1.0414	10	0.09590	T	0.72	-5.046	0.5898	0.00726	0.2747:0.1232:0.3472:0.2549	.	159	Q9H0K6	PUS7L_HUMAN	A	159	ENSP00000415899:P159A;ENSP00000343081:P159A;ENSP00000447706:P159A;ENSP00000446865:P159A	ENSP00000343081:P159A	P	-	1	0	PUS7L	42434841	0.965000	0.33210	0.812000	0.32479	0.139000	0.21198	0.830000	0.27462	0.391000	0.25143	0.591000	0.81541	CCT	PUS7L	-	superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruD_euk	ENSG00000129317		0.368	PUS7L-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PUS7L	HGNC	protein_coding	OTTHUMT00000403931.1	106	0.00	0	G	NM_031292		44148574	44148574	-1	no_errors	ENST00000344862	ensembl	human	known	69_37n	missense	52	49.51	51	SNP	0.696	C
PVALB	5816	genome.wustl.edu	37	22	37213029	37213029	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:37213029C>G	ENST00000216200.5	-	2	76	c.21G>C	c.(19-21)ctG>ctC	p.L7L	PVALB_ENST00000417718.2_Silent_p.L7L|PVALB_ENST00000404171.1_5'Flank|CITF22-24E5.1_ENST00000417792.1_RNA	NM_002854.2	NP_002845.1	P20472	PRVA_HUMAN	parvalbumin	7					cytosolic calcium ion homeostasis (GO:0051480)	axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)			large_intestine(1)|lung(1)|skin(1)	3						CCTCAGCGTTCAGCAAGTCTG	0.562																																						dbGAP											0													82.0	55.0	64.0					22																	37213029		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS13933.1	22q13.1	2013-01-10			ENSG00000100362	ENSG00000100362		"""EF-hand domain containing"""	9704	protein-coding gene	gene with protein product		168890				1559707, 10591208	Standard	NM_002854		Approved	D22S749	uc003apx.3	P20472	OTTHUMG00000150547	ENST00000216200.5:c.21G>C	22.37:g.37213029C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R4H7|P78378|Q4VB78|Q5R3Q9	Nonstop_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Parvalbumin	p.*6S	ENST00000216200.5	37	c.17	CCDS13933.1	22	.	.	.	.	.	.	.	.	.	.	C	9.042	0.989997	0.18966	.	.	ENSG00000100362	ENST00000406910	.	.	.	4.04	3.02	0.34903	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-23.0839	14.1052	0.65085	0.0:0.1534:0.8466:0.0	.	.	.	.	S	6	.	.	X	-	2	2	PVALB	35542975	1.000000	0.71417	0.894000	0.35097	0.941000	0.58515	2.097000	0.41748	1.051000	0.40369	-0.244000	0.11960	TGA	PVALB	-	NULL	ENSG00000100362		0.562	PVALB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PVALB	HGNC	protein_coding	OTTHUMT00000318857.1	37	0.00	0	C	NM_002854		37213029	37213029	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000406910	ensembl	human	novel	69_37n	nonstop	30	21.05	8	SNP	0.947	G
PXDNL	137902	genome.wustl.edu	37	8	52284470	52284470	+	Silent	SNP	C	C	A	rs369118716		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:52284470C>A	ENST00000356297.4	-	19	3964	c.3864G>T	c.(3862-3864)ccG>ccT	p.P1288P	PXDNL_ENST00000543296.1_Silent_p.P1288P	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1288					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GGTCCACCTTCGGGATCTCGC	0.483																																						dbGAP											0													62.0	63.0	62.0					8																	52284470		2049	4194	6243	-	-	-	SO:0001819	synonymous_variant	0				CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.3864G>T	8.37:g.52284470C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_VWF_C,superfamily_Haem_peroxidase,smart_VWF_C,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.R362L	ENST00000356297.4	37	c.1085	CCDS47855.1	8	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.568376	0.00895	.	.	ENSG00000147485	ENST00000522933	.	.	.	4.81	-9.62	0.00547	.	.	.	.	.	T	0.46814	0.1412	.	.	.	0.43360	D	0.995433	.	.	.	.	.	.	T	0.64141	-0.6477	4	.	.	.	.	8.1198	0.30965	0.0788:0.3902:0.4126:0.1184	.	.	.	.	L	362	.	.	R	-	2	0	PXDNL	52447023	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.835000	0.01692	-4.467000	0.00047	-2.706000	0.00135	CGA	PXDNL	-	superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal	ENSG00000147485		0.483	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDNL	HGNC	protein_coding	OTTHUMT00000377905.1	67	0.00	0	C	NM_144651		52284470	52284470	-1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000522933	ensembl	human	novel	69_37n	missense	32	63.22	55	SNP	0.000	A
PYCR1	5831	genome.wustl.edu	37	17	79890827	79890827	+	3'UTR	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:79890827G>C	ENST00000329875.8	-	0	1287				RP11-498C9.13_ENST00000583521.1_RNA|PYCR1_ENST00000403172.4_3'UTR|MAFG-AS1_ENST00000583492.1_RNA|PYCR1_ENST00000337943.5_Missense_Mutation_p.L294V|MAFG-AS1_ENST00000582106.1_RNA|PYCR1_ENST00000577756.1_3'UTR|PYCR1_ENST00000402252.2_3'UTR	NM_001282280.1|NM_001282281.1|NM_006907.2	NP_001269209.1|NP_001269210.1|NP_008838.2	P32322	P5CR1_HUMAN	pyrroline-5-carboxylate reductase 1						cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to oxidative stress (GO:0034599)|L-proline biosynthetic process (GO:0055129)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|proline biosynthetic process (GO:0006561)|regulation of mitochondrial membrane potential (GO:0051881)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|pyrroline-5-carboxylate reductase activity (GO:0004735)			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		L-Proline(DB00172)	CCGAGCTCTAGAGGAAGGTGG	0.582																																						dbGAP											0													38.0	38.0	38.0					17																	79890827		2200	4296	6496	-	-	-	SO:0001624	3_prime_UTR_variant	0				CCDS11794.1, CCDS11795.1, CCDS62365.1, CCDS62366.1	17q25.3	2013-09-23			ENSG00000183010	ENSG00000183010	1.5.1.2		9721	protein-coding gene	gene with protein product		179035				1730675	Standard	XM_005256381		Approved	P5C	uc002kcr.1	P32322	OTTHUMG00000178436	ENST00000329875.8:c.*263C>G	17.37:g.79890827G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFM2|B4DMU0|Q6FHI4|Q96DI6|Q9HBQ4	Missense_Mutation	SNP	pfam_NADP_OxRdtase_F420,pfam_G3P_DH_NAD-dep_N,superfamily_6-PGluconate_DH_C-like,pirsf_Pyrroline-COOH_reductase,tigrfam_Pyrroline-COOH_reductase	p.L294V	ENST00000329875.8	37	c.880	CCDS11795.1	17	.	.	.	.	.	.	.	.	.	.	G	0.141	-1.102627	0.01828	.	.	ENSG00000183010	ENST00000337943	T	0.73789	-0.78	3.11	-3.03	0.05429	.	.	.	.	.	T	0.49457	0.1558	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34551	-0.9824	9	0.72032	D	0.01	.	5.8911	0.18913	0.0:0.3281:0.3388:0.3331	.	294	A6NFM2	.	V	294	ENSP00000336579:L294V	ENSP00000336579:L294V	L	-	1	2	PYCR1	77484118	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.490000	0.06482	-0.652000	0.05408	0.557000	0.71058	CTA	PYCR1	-	NULL	ENSG00000183010		0.582	PYCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYCR1	HGNC	protein_coding	OTTHUMT00000441953.1	69	0.00	0	G			79890827	79890827	-1	no_errors	ENST00000337943	ensembl	human	known	69_37n	missense	18	40.00	12	SNP	0.000	C
PYGM	5837	genome.wustl.edu	37	11	64514172	64514172	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:64514172G>T	ENST00000164139.3	-	20	2886	c.2488C>A	c.(2488-2490)Cct>Act	p.P830T	RASGRP2_ENST00000377486.3_5'Flank|RASGRP2_ENST00000394432.3_5'Flank|RASGRP2_ENST00000377497.3_5'Flank|RASGRP2_ENST00000377489.1_5'Flank|RASGRP2_ENST00000354024.3_5'Flank|PYGM_ENST00000377432.3_Missense_Mutation_p.P742T|RASGRP2_ENST00000377494.1_5'Flank|RASGRP2_ENST00000394430.1_5'Flank|RASGRP2_ENST00000377487.1_5'Flank	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	830					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGGCGGGAAGGCTCCACACCC	0.632																																						dbGAP											0													77.0	79.0	78.0					11																	64514172		2201	4297	6498	-	-	-	SO:0001583	missense	0				CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"""Glycogen phosphorylases"""	9726	protein-coding gene	gene with protein product	"""McArdle syndrome"", ""glycogen storage disease type V"", ""glycogen phosphorylase, muscle form"""	608455	"""phosphorylase, glycogen; muscle"""				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.2488C>A	11.37:g.64514172G>T	ENSP00000164139:p.Pro830Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVK1|A6NDY6	Missense_Mutation	SNP	pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas	p.P830T	ENST00000164139.3	37	c.2488	CCDS8079.1	11	.	.	.	.	.	.	.	.	.	.	G	24.2	4.507039	0.85282	.	.	ENSG00000068976	ENST00000377432;ENST00000164139;ENST00000540450	D;D	0.93953	-3.19;-3.32	4.39	4.39	0.52855	.	0.098862	0.41001	D	0.000961	D	0.96978	0.9013	M	0.90309	3.105	0.80722	D	1	D;D	0.71674	0.994;0.998	D;D	0.74348	0.983;0.977	D	0.97709	1.0189	10	0.87932	D	0	-10.0606	14.4912	0.67651	0.0:0.0:1.0:0.0	.	742;830	A6NDY6;P11217	.;PYGM_HUMAN	T	742;830;811	ENSP00000366650:P742T;ENSP00000164139:P830T	ENSP00000164139:P830T	P	-	1	0	PYGM	64270748	1.000000	0.71417	0.846000	0.33378	0.932000	0.56968	9.578000	0.98200	2.292000	0.77174	0.462000	0.41574	CCT	PYGM	-	pfam_Glyco_trans_35,pirsf_Glyco_trans_35	ENSG00000068976		0.632	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYGM	HGNC	protein_coding	OTTHUMT00000143254.2	81	0.00	0	G	NM_005609		64514172	64514172	-1	no_errors	ENST00000164139	ensembl	human	known	69_37n	missense	100	23.08	30	SNP	1.000	T
PYGO1	26108	genome.wustl.edu	37	15	55839113	55839113	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:55839113G>A	ENST00000302000.6	-	3	462	c.368C>T	c.(367-369)tCa>tTa	p.S123L	PYGO1_ENST00000563719.1_Missense_Mutation_p.S123L	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN	pygopus family PHD finger 1	123	Pro-rich.				hematopoietic progenitor cell differentiation (GO:0002244)|kidney development (GO:0001822)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|spermatid nucleus differentiation (GO:0007289)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		GTTCCTGAGTGAGTAAGGACC	0.473																																						dbGAP											0													88.0	79.0	82.0					15																	55839113		2193	4292	6485	-	-	-	SO:0001583	missense	0			AF457207	CCDS10155.1	15q21.1	2013-10-09	2013-10-09		ENSG00000171016	ENSG00000171016		"""Zinc fingers, PHD-type"""	30256	protein-coding gene	gene with protein product		606902	"""pygopus homolog 1 (Drosophila)"""			11988739	Standard	NM_015617		Approved		uc002adf.1	Q9Y3Y4	OTTHUMG00000132009	ENST00000302000.6:c.368C>T	15.37:g.55839113G>A	ENSP00000302327:p.Ser123Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A7Y2D6	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.S123L	ENST00000302000.6	37	c.368	CCDS10155.1	15	.	.	.	.	.	.	.	.	.	.	G	13.64	2.297039	0.40594	.	.	ENSG00000171016	ENST00000302000;ENST00000401688	T	0.47177	0.85	5.09	4.17	0.49024	.	0.460339	0.21526	N	0.073139	T	0.30479	0.0766	N	0.14661	0.345	0.38828	D	0.955798	B;B	0.27823	0.084;0.19	B;B	0.21360	0.034;0.034	T	0.17684	-1.0361	10	0.49607	T	0.09	-11.7044	12.7951	0.57555	0.079:0.0:0.9209:0.0	.	123;123	A7Y2D6;Q9Y3Y4	.;PYGO1_HUMAN	L	123	ENSP00000302327:S123L	ENSP00000302327:S123L	S	-	2	0	PYGO1	53626405	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.093000	0.64517	1.264000	0.44198	0.585000	0.79938	TCA	PYGO1	-	NULL	ENSG00000171016		0.473	PYGO1-001	KNOWN	basic|CCDS	protein_coding	PYGO1	HGNC	protein_coding	OTTHUMT00000254977.2	68	0.00	0	G	NM_015617		55839113	55839113	-1	no_errors	ENST00000302000	ensembl	human	known	69_37n	missense	54	28.95	22	SNP	1.000	A
PYHIN1	149628	genome.wustl.edu	37	1	158908888	158908888	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:158908888G>A	ENST00000368140.1	+	4	675	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	PYHIN1_ENST00000368135.4_Missense_Mutation_p.E144K|PYHIN1_ENST00000392252.3_Missense_Mutation_p.E135K|PYHIN1_ENST00000368138.3_Missense_Mutation_p.E135K|PYHIN1_ENST00000392254.2_Missense_Mutation_p.E144K	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	144					cell cycle (GO:0007049)	nucleus (GO:0005634)				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					AAAACCATCTGAAGAAGAGAC	0.418																																						dbGAP											0													56.0	55.0	56.0					1																	158908888		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.430G>A	1.37:g.158908888G>A	ENSP00000357122:p.Glu144Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Missense_Mutation	SNP	pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN,pfscan_HIN200/IF120x	p.E144K	ENST00000368140.1	37	c.430	CCDS1178.1	1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.797958	0.00617	.	.	ENSG00000163564	ENST00000458222;ENST00000368140;ENST00000368138;ENST00000392254;ENST00000392252;ENST00000368135	T;T;T;T;T;T	0.28069	1.63;3.48;3.54;3.5;3.55;1.89	2.27	-0.0553	0.13810	.	.	.	.	.	T	0.02304	0.0071	N	0.03177	-0.4	0.09310	N	1	B;B;B;B;B	0.15473	0.012;0.012;0.012;0.007;0.013	B;B;B;B;B	0.17722	0.007;0.005;0.007;0.002;0.019	T	0.45425	-0.9262	9	0.02654	T	1	.	4.2487	0.10684	0.5417:0.0:0.4583:0.0	.	135;144;135;144;144	Q6K0P9-4;Q6K0P9-3;Q6K0P9-2;Q6K0P9;Q6K0P9-5	.;.;.;IFIX_HUMAN;.	K	144;144;135;144;135;144	ENSP00000407616:E144K;ENSP00000357122:E144K;ENSP00000357120:E135K;ENSP00000376083:E144K;ENSP00000376082:E135K;ENSP00000357117:E144K	ENSP00000357117:E144K	E	+	1	0	PYHIN1	157175512	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.145000	0.10265	-0.037000	0.13646	-0.484000	0.04775	GAA	PYHIN1	-	NULL	ENSG00000163564		0.418	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PYHIN1	HGNC	protein_coding	OTTHUMT00000090110.1	61	0.00	0	G	NM_152501		158908888	158908888	+1	no_errors	ENST00000368140	ensembl	human	known	69_37n	missense	65	24.42	21	SNP	0.000	A
PYROXD2	84795	genome.wustl.edu	37	10	100154999	100154999	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:100154999C>T	ENST00000370575.4	-	8	787	c.739G>A	c.(739-741)Gat>Aat	p.D247N	MIR1287_ENST00000408492.1_RNA|PYROXD2_ENST00000483923.1_5'UTR	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	247							oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						ATCACTGCATCTGTGGCTAGA	0.582																																						dbGAP											0													120.0	119.0	119.0					10																	100154999		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074429	CCDS7474.1	10q24.2	2009-04-22	2009-04-22	2009-04-22	ENSG00000119943	ENSG00000119943			23517	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 33"""	C10orf33			Standard	NM_032709		Approved	FLJ23849	uc001kpc.3	Q8N2H3	OTTHUMG00000018877	ENST00000370575.4:c.739G>A	10.37:g.100154999C>T	ENSP00000359607:p.Asp247Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DR61|Q5TAA9|Q9BRQ1	Missense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Amino_oxidase	p.D247N	ENST00000370575.4	37	c.739	CCDS7474.1	10	.	.	.	.	.	.	.	.	.	.	C	23.8	4.458726	0.84317	.	.	ENSG00000119943	ENST00000370575	T	0.59364	0.27	5.34	5.34	0.76211	.	0.089617	0.85682	D	0.000000	T	0.65903	0.2736	M	0.89414	3.03	0.80722	D	1	B	0.34015	0.435	B	0.32677	0.15	T	0.72381	-0.4311	10	0.66056	D	0.02	-42.518	16.8607	0.86017	0.0:1.0:0.0:0.0	.	247	Q8N2H3	PYRD2_HUMAN	N	247	ENSP00000359607:D247N	ENSP00000359607:D247N	D	-	1	0	PYROXD2	100144989	1.000000	0.71417	0.972000	0.41901	0.931000	0.56810	7.379000	0.79691	2.492000	0.84095	0.655000	0.94253	GAT	PYROXD2	-	NULL	ENSG00000119943		0.582	PYROXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYROXD2	HGNC	protein_coding	OTTHUMT00000049782.2	47	0.00	0	C	NM_032709		100154999	100154999	-1	no_errors	ENST00000370575	ensembl	human	known	69_37n	missense	37	30.19	16	SNP	1.000	T
QARS	5859	genome.wustl.edu	37	3	49133479	49133479	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:49133479C>G	ENST00000306125.6	-	24	2648	c.2311G>C	c.(2311-2313)Gac>Cac	p.D771H	QRICH1_ENST00000424300.1_5'Flank|QARS_ENST00000414533.1_Missense_Mutation_p.D760H|QRICH1_ENST00000357496.2_5'Flank|QRICH1_ENST00000395443.2_5'Flank			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	771					brain development (GO:0007420)|gene expression (GO:0010467)|glutaminyl-tRNA aminoacylation (GO:0006425)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|glutamine-tRNA ligase activity (GO:0004819)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	TTTCCTGGGTCTTCCTTCAGT	0.547																																						dbGAP											0													98.0	77.0	84.0					3																	49133479		2203	4300	6503	-	-	-	SO:0001583	missense	0			X76013	CCDS2788.1, CCDS63633.1	3p21.31	2011-07-01			ENSG00000172053	ENSG00000172053	6.1.1.18	"""Aminoacyl tRNA synthetases / Class I"""	9751	protein-coding gene	gene with protein product	"""glutamine tRNA ligase"""	603727				8078941, 10393422	Standard	NM_005051		Approved		uc003cvx.4	P47897	OTTHUMG00000156774	ENST00000306125.6:c.2311G>C	3.37:g.49133479C>G	ENSP00000307567:p.Asp771His	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DWJ2	Missense_Mutation	SNP	pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_Gln-tRNA-synth_Ib_RNA-bd_N,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_Gln-tRNA-synth_Ib_RNA-bd_2,superfamily_Ribosomal_L25/Gln-tRNA_synth,prints_Glu/Gln-tRNA-synth_Ib,tigrfam_Gln-tRNA-synth_Ib	p.D771H	ENST00000306125.6	37	c.2311	CCDS2788.1	3	.	.	.	.	.	.	.	.	.	.	C	29.8	5.033007	0.93575	.	.	ENSG00000172053	ENST00000453392;ENST00000306125;ENST00000414533	T;T	0.25579	1.8;1.79	6.06	6.06	0.98353	Ribosomal protein L25/Gln-tRNA synthetase, anti-codon-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.65450	0.2692	H	0.94183	3.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.73770	-0.3878	10	0.72032	D	0.01	-28.0866	19.3958	0.94607	0.0:1.0:0.0:0.0	.	760;771	B4DWJ2;P47897	.;SYQ_HUMAN	H	249;771;760	ENSP00000307567:D771H;ENSP00000390015:D760H	ENSP00000307567:D771H	D	-	1	0	QARS	49108483	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	7.099000	0.76981	2.879000	0.98667	0.650000	0.86243	GAC	QARS	-	superfamily_Ribosomal_L25/Gln-tRNA_synth,tigrfam_Gln-tRNA-synth_Ib	ENSG00000172053		0.547	QARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QARS	HGNC	protein_coding	OTTHUMT00000345689.2	72	0.00	0	C	NM_005051		49133479	49133479	-1	no_errors	ENST00000306125	ensembl	human	known	69_37n	missense	64	22.89	19	SNP	1.000	G
QARS	5859	genome.wustl.edu	37	3	49135466	49135466	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:49135466G>C	ENST00000306125.6	-	23	2573	c.2236C>G	c.(2236-2238)Ctt>Gtt	p.L746V	QARS_ENST00000414533.1_Missense_Mutation_p.L735V|QARS_ENST00000470225.1_5'Flank			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	746					brain development (GO:0007420)|gene expression (GO:0010467)|glutaminyl-tRNA aminoacylation (GO:0006425)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|glutamine-tRNA ligase activity (GO:0004819)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	AAATATCCAAGACGCTCAAAC	0.537																																						dbGAP											0													149.0	146.0	147.0					3																	49135466		2203	4300	6503	-	-	-	SO:0001583	missense	0			X76013	CCDS2788.1, CCDS63633.1	3p21.31	2011-07-01			ENSG00000172053	ENSG00000172053	6.1.1.18	"""Aminoacyl tRNA synthetases / Class I"""	9751	protein-coding gene	gene with protein product	"""glutamine tRNA ligase"""	603727				8078941, 10393422	Standard	NM_005051		Approved		uc003cvx.4	P47897	OTTHUMG00000156774	ENST00000306125.6:c.2236C>G	3.37:g.49135466G>C	ENSP00000307567:p.Leu746Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DWJ2	Missense_Mutation	SNP	pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_Gln-tRNA-synth_Ib_RNA-bd_N,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_Gln-tRNA-synth_Ib_RNA-bd_2,superfamily_Ribosomal_L25/Gln-tRNA_synth,prints_Glu/Gln-tRNA-synth_Ib,tigrfam_Gln-tRNA-synth_Ib	p.L746V	ENST00000306125.6	37	c.2236	CCDS2788.1	3	.	.	.	.	.	.	.	.	.	.	G	11.67	1.708086	0.30322	.	.	ENSG00000172053	ENST00000306125;ENST00000414533	T;T	0.21932	1.98;1.98	5.73	3.88	0.44766	Ribosomal protein L25/Gln-tRNA synthetase, anti-codon-binding domain (1);Ribosomal protein L25/Gln-tRNA synthetase, beta-barrel domain (1);Glutamyl/glutaminyl-tRNA synthetase, class Ib, anti-codon binding domain (1);	0.131566	0.49916	D	0.000122	T	0.11367	0.0277	N	0.16233	0.39	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.11329	0.006;0.006	T	0.09357	-1.0678	10	0.09843	T	0.71	-15.5749	10.6594	0.45694	0.0697:0.0:0.7994:0.1309	.	735;746	B4DWJ2;P47897	.;SYQ_HUMAN	V	746;735	ENSP00000307567:L746V;ENSP00000390015:L735V	ENSP00000307567:L746V	L	-	1	0	QARS	49110470	0.978000	0.34361	0.937000	0.37676	0.986000	0.74619	1.956000	0.40382	1.373000	0.46208	0.655000	0.94253	CTT	QARS	-	pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,tigrfam_Gln-tRNA-synth_Ib	ENSG00000172053		0.537	QARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QARS	HGNC	protein_coding	OTTHUMT00000345689.2	81	0.00	0	G	NM_005051		49135466	49135466	-1	no_errors	ENST00000306125	ensembl	human	known	69_37n	missense	77	23.00	23	SNP	0.983	C
QARS	5859	genome.wustl.edu	37	3	49136834	49136834	+	Silent	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:49136834G>T	ENST00000306125.6	-	17	1894	c.1557C>A	c.(1555-1557)ctC>ctA	p.L519L	QARS_ENST00000414533.1_Silent_p.L508L|QARS_ENST00000470225.1_5'Flank			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	519					brain development (GO:0007420)|gene expression (GO:0010467)|glutaminyl-tRNA aminoacylation (GO:0006425)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|glutamine-tRNA ligase activity (GO:0004819)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	GCAGGGCCGTGAGTGTAAAGA	0.557																																						dbGAP											0													81.0	86.0	85.0					3																	49136834		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X76013	CCDS2788.1, CCDS63633.1	3p21.31	2011-07-01			ENSG00000172053	ENSG00000172053	6.1.1.18	"""Aminoacyl tRNA synthetases / Class I"""	9751	protein-coding gene	gene with protein product	"""glutamine tRNA ligase"""	603727				8078941, 10393422	Standard	NM_005051		Approved		uc003cvx.4	P47897	OTTHUMG00000156774	ENST00000306125.6:c.1557C>A	3.37:g.49136834G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DWJ2	Silent	SNP	pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_Gln-tRNA-synth_Ib_RNA-bd_N,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_Gln-tRNA-synth_Ib_RNA-bd_2,superfamily_Ribosomal_L25/Gln-tRNA_synth,prints_Glu/Gln-tRNA-synth_Ib,tigrfam_Gln-tRNA-synth_Ib	p.L519	ENST00000306125.6	37	c.1557	CCDS2788.1	3																																																																																			QARS	-	pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,tigrfam_Gln-tRNA-synth_Ib	ENSG00000172053		0.557	QARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QARS	HGNC	protein_coding	OTTHUMT00000345689.2	101	0.00	0	G	NM_005051		49136834	49136834	-1	no_errors	ENST00000306125	ensembl	human	known	69_37n	silent	98	19.01	23	SNP	0.998	T
QARS	5859	genome.wustl.edu	37	3	49138812	49138812	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:49138812G>C	ENST00000306125.6	-	10	1189	c.852C>G	c.(850-852)atC>atG	p.I284M	QARS_ENST00000414533.1_Missense_Mutation_p.I273M|QARS_ENST00000420147.2_Missense_Mutation_p.Q274E|QARS_ENST00000470225.1_5'UTR			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	284					brain development (GO:0007420)|gene expression (GO:0010467)|glutaminyl-tRNA aminoacylation (GO:0006425)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|glutamine-tRNA ligase activity (GO:0004819)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	AGTTGAAATTGATGGCTTTGG	0.478																																						dbGAP											0													137.0	123.0	128.0					3																	49138812		2203	4300	6503	-	-	-	SO:0001583	missense	0			X76013	CCDS2788.1, CCDS63633.1	3p21.31	2011-07-01			ENSG00000172053	ENSG00000172053	6.1.1.18	"""Aminoacyl tRNA synthetases / Class I"""	9751	protein-coding gene	gene with protein product	"""glutamine tRNA ligase"""	603727				8078941, 10393422	Standard	NM_005051		Approved		uc003cvx.4	P47897	OTTHUMG00000156774	ENST00000306125.6:c.852C>G	3.37:g.49138812G>C	ENSP00000307567:p.Ile284Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DWJ2	Missense_Mutation	SNP	pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_Gln-tRNA-synth_Ib_RNA-bd_N,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_Gln-tRNA-synth_Ib_RNA-bd_2,superfamily_Ribosomal_L25/Gln-tRNA_synth,prints_Glu/Gln-tRNA-synth_Ib,tigrfam_Gln-tRNA-synth_Ib	p.I284M	ENST00000306125.6	37	c.852	CCDS2788.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.81|18.81	3.702669|3.702669	0.68501|0.68501	.|.	.|.	ENSG00000172053|ENSG00000172053	ENST00000306125;ENST00000414533|ENST00000420147	T;T|.	0.24723|.	1.84;1.84|.	5.73|5.73	5.73|5.73	0.89815|0.89815	Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain (1);Rossmann-like alpha/beta/alpha sandwich fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77075|0.77075	0.4077|0.4077	M|M	0.76574|0.76574	2.34|2.34	0.31525|0.31525	N|N	0.661952|0.661952	D;D|D	0.89917|0.58268	1.0;1.0|0.982	D;D|D	0.97110|0.67548	1.0;1.0|0.952	T|T	0.78811|0.78811	-0.2057|-0.2057	10|8	0.28530|0.87932	T|D	0.3|0	-24.5027|-24.5027	19.4958|19.4958	0.95072|0.95072	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	273;284|274	B4DWJ2;P47897|B7Z840	.;SYQ_HUMAN|.	M|E	284;273|274	ENSP00000307567:I284M;ENSP00000390015:I273M|.	ENSP00000307567:I284M|ENSP00000399119:Q274E	I|Q	-|-	3|1	3|0	QARS|QARS	49113816|49113816	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.034000|4.034000	0.57289|0.57289	2.708000|2.708000	0.92522|0.92522	0.655000|0.655000	0.94253|0.94253	ATC|CAA	QARS	-	pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,prints_Glu/Gln-tRNA-synth_Ib,tigrfam_Gln-tRNA-synth_Ib	ENSG00000172053		0.478	QARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QARS	HGNC	protein_coding	OTTHUMT00000345689.2	89	0.00	0	G	NM_005051		49138812	49138812	-1	no_errors	ENST00000306125	ensembl	human	known	69_37n	missense	51	56.41	66	SNP	1.000	C
QDPR	5860	genome.wustl.edu	37	4	17493920	17493920	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:17493920G>C	ENST00000281243.5	-	5	659	c.480C>G	c.(478-480)ctC>ctG	p.L160L	QDPR_ENST00000508623.1_Intron|QDPR_ENST00000513615.1_Intron|QDPR_ENST00000428702.2_Silent_p.L129L	NM_000320.2	NP_000311.2	P09417	DHPR_HUMAN	quinoid dihydropteridine reductase	160					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|dihydrobiopterin metabolic process (GO:0051066)|L-phenylalanine catabolic process (GO:0006559)|liver development (GO:0001889)|response to aluminum ion (GO:0010044)|response to glucagon (GO:0033762)|response to lead ion (GO:0010288)|small molecule metabolic process (GO:0044281)|tetrahydrobiopterin biosynthetic process (GO:0006729)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	6,7-dihydropteridine reductase activity (GO:0004155)|electron carrier activity (GO:0009055)|NADH binding (GO:0070404)|NADPH binding (GO:0070402)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	13						GGCTCTGGCAGAGCTGGTGAA	0.652																																						dbGAP											0													48.0	50.0	49.0					4																	17493920		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB053170	CCDS3421.1	4p15.31	2014-04-01			ENSG00000151552	ENSG00000151552	1.5.1.34	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	9752	protein-coding gene	gene with protein product	"""6,7-dihydropteridine reductase"", ""short chain dehydrogenase/reductase family 33C, member 1"""	612676				19027726	Standard	NM_000320		Approved	DHPR, PKU2, SDR33C1	uc003gpd.3	P09417	OTTHUMG00000128537	ENST00000281243.5:c.480C>G	4.37:g.17493920G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K158|B3KW71|Q53F52|Q9H3M5	Silent	SNP	pfam_DH_sc/Rdtase_SDR	p.L160	ENST00000281243.5	37	c.480	CCDS3421.1	4																																																																																			QDPR	-	pfam_DH_sc/Rdtase_SDR	ENSG00000151552		0.652	QDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QDPR	HGNC	protein_coding	OTTHUMT00000250372.1	29	0.00	0	G	NM_000320		17493920	17493920	-1	no_errors	ENST00000281243	ensembl	human	known	69_37n	silent	7	68.18	15	SNP	0.998	C
QRICH1	54870	genome.wustl.edu	37	3	49081898	49081898	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:49081898C>A	ENST00000395443.2	-	6	2183	c.1711G>T	c.(1711-1713)Gat>Tat	p.D571Y	QRICH1_ENST00000424300.1_Missense_Mutation_p.D571Y|QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000357496.2_Missense_Mutation_p.D571Y	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	571						nucleus (GO:0005634)				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		TAATAAAGATCGGAGAAAATG	0.408																																						dbGAP											0													114.0	115.0	115.0					3																	49081898		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772	ENST00000395443.2:c.1711G>T	3.37:g.49081898C>A	ENSP00000378830:p.Asp571Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G0F7|Q7L621|Q8TEA5	Missense_Mutation	SNP	pfam_DUF3504,superfamily_DEATH-like	p.D571Y	ENST00000395443.2	37	c.1711	CCDS2787.1	3	.	.	.	.	.	.	.	.	.	.	C	26.3	4.723708	0.89298	.	.	ENSG00000198218	ENST00000395443;ENST00000357496;ENST00000424300	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.83885	0.5351	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85024	0.0913	9	0.87932	D	0	-3.8662	20.0493	0.97618	0.0:1.0:0.0:0.0	.	571	Q2TAL8	QRIC1_HUMAN	Y	571	.	ENSP00000350094:D571Y	D	-	1	0	QRICH1	49056902	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.244000	0.78228	2.745000	0.94114	0.491000	0.48974	GAT	QRICH1	-	NULL	ENSG00000198218		0.408	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QRICH1	HGNC	protein_coding	OTTHUMT00000345669.1	39	0.00	0	C	NM_017730		49081898	49081898	-1	no_errors	ENST00000357496	ensembl	human	known	69_37n	missense	32	52.94	36	SNP	1.000	A
QRICH2	84074	genome.wustl.edu	37	17	74274261	74274261	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:74274261C>T	ENST00000262765.5	-	15	4607	c.4428G>A	c.(4426-4428)ctG>ctA	p.L1476L		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1476										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						AGGCGCTGCCCAGCTTGAGGC	0.622																																						dbGAP											0													43.0	44.0	43.0					17																	74274261		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.4428G>A	17.37:g.74274261C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRE1|Q96LM3	Nonsense_Mutation	SNP	NULL	p.W124*	ENST00000262765.5	37	c.371	CCDS32741.1	17	.	.	.	.	.	.	.	.	.	.	C	10.16	1.275145	0.23307	.	.	ENSG00000129646	ENST00000532549	.	.	.	5.65	4.68	0.58851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.9978	8.7267	0.34474	0.0:0.8281:0.0:0.1719	.	.	.	.	X	124	.	.	W	-	2	0	QRICH2	71785856	1.000000	0.71417	0.988000	0.46212	0.872000	0.50106	0.952000	0.29149	1.397000	0.46682	0.491000	0.48974	TGG	QRICH2	-	NULL	ENSG00000129646		0.622	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	QRICH2	HGNC	protein_coding	OTTHUMT00000395140.1	40	0.00	0	C	NM_032134		74274261	74274261	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000532549	ensembl	human	putative	69_37n	nonsense	41	24.07	13	SNP	0.998	T
QRICH2	84074	genome.wustl.edu	37	17	74287895	74287895	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:74287895C>G	ENST00000262765.5	-	4	2594	c.2415G>C	c.(2413-2415)ttG>ttC	p.L805F		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	805										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CAGGTTGTCTCAAACCATACT	0.463																																						dbGAP											0													124.0	116.0	119.0					17																	74287895		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.2415G>C	17.37:g.74287895C>G	ENSP00000262765:p.Leu805Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRE1|Q96LM3	Missense_Mutation	SNP	NULL	p.L805F	ENST00000262765.5	37	c.2415	CCDS32741.1	17	.	.	.	.	.	.	.	.	.	.	C	11.82	1.752791	0.31046	.	.	ENSG00000129646	ENST00000262765;ENST00000301613	T	0.09817	2.94	4.66	0.0866	0.14447	.	.	.	.	.	T	0.20618	0.0496	M	0.78637	2.42	0.09310	N	1	D;D	0.67145	0.996;0.992	D;P	0.64237	0.923;0.877	T	0.25606	-1.0127	9	0.10902	T	0.67	-0.0673	2.7798	0.05357	0.3236:0.4259:0.1574:0.0931	.	805;805	B5MD94;Q9H0J4	.;QRIC2_HUMAN	F	805	ENSP00000262765:L805F	ENSP00000262765:L805F	L	-	3	2	QRICH2	71799490	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.016000	0.12613	-0.122000	0.11766	0.448000	0.29417	TTG	QRICH2	-	NULL	ENSG00000129646		0.463	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	QRICH2	HGNC	protein_coding	OTTHUMT00000395140.1	54	0.00	0	C	NM_032134		74287895	74287895	-1	no_errors	ENST00000262765	ensembl	human	known	69_37n	missense	79	18.56	18	SNP	0.005	G
QRICH2	84074	genome.wustl.edu	37	17	74290028	74290028	+	Silent	SNP	G	G	A	rs138067412	byFrequency	TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:74290028G>A	ENST00000262765.5	-	4	461	c.282C>T	c.(280-282)agC>agT	p.S94S		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	94										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						TAGAGTCTCCGCTTAGAGTCC	0.517													G|||	3	0.000599042	0.0023	0.0	5008	,	,		19043	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													107.0	108.0	108.0					17																	74290028		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.282C>T	17.37:g.74290028G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRE1|Q96LM3	Silent	SNP	NULL	p.S94	ENST00000262765.5	37	c.282	CCDS32741.1	17																																																																																			QRICH2	-	NULL	ENSG00000129646		0.517	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	QRICH2	HGNC	protein_coding	OTTHUMT00000395140.1	53	0.00	0	G	NM_032134		74290028	74290028	-1	no_errors	ENST00000262765	ensembl	human	known	69_37n	silent	62	21.52	17	SNP	0.000	A
QSER1	79832	genome.wustl.edu	37	11	32954530	32954530	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:32954530C>G	ENST00000399302.2	+	4	1674	c.1339C>G	c.(1339-1341)Caa>Gaa	p.Q447E	QSER1_ENST00000527788.1_Intron	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	447	Ser-rich.									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)					CTATTCATCTCAATCACAAGT	0.423																																						dbGAP											0													117.0	112.0	114.0					11																	32954530		1883	4113	5996	-	-	-	SO:0001583	missense	0			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.1339C>G	11.37:g.32954530C>G	ENSP00000382241:p.Gln447Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	NULL	p.Q447E	ENST00000399302.2	37	c.1339	CCDS41631.1	11	.	.	.	.	.	.	.	.	.	.	C	14.62	2.589333	0.46214	.	.	ENSG00000060749	ENST00000399302	T	0.49139	0.79	4.73	4.73	0.59995	.	0.000000	0.39687	U	0.001295	T	0.46502	0.1396	L	0.57536	1.79	0.80722	D	1	P	0.50443	0.935	B	0.39971	0.315	T	0.53493	-0.8431	10	0.44086	T	0.13	.	18.0553	0.89362	0.0:1.0:0.0:0.0	.	447	Q2KHR3	QSER1_HUMAN	E	447	ENSP00000382241:Q447E	ENSP00000382241:Q447E	Q	+	1	0	QSER1	32911106	1.000000	0.71417	0.992000	0.48379	0.263000	0.26337	5.354000	0.66040	2.348000	0.79779	0.467000	0.42956	CAA	QSER1	-	NULL	ENSG00000060749		0.423	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QSER1	HGNC	protein_coding	OTTHUMT00000388448.1	58	0.00	0	C	NM_024774		32954530	32954530	+1	no_errors	ENST00000399302	ensembl	human	known	69_37n	missense	51	29.17	21	SNP	1.000	G
QSER1	79832	genome.wustl.edu	37	11	32954651	32954651	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:32954651C>G	ENST00000399302.2	+	4	1795	c.1460C>G	c.(1459-1461)tCt>tGt	p.S487C	QSER1_ENST00000527788.1_Missense_Mutation_p.S248C	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	487	Ser-rich.									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)					TTGCCAGACTCTAGCCCGACC	0.458																																						dbGAP											0													69.0	66.0	67.0					11																	32954651		1836	4080	5916	-	-	-	SO:0001583	missense	0			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.1460C>G	11.37:g.32954651C>G	ENSP00000382241:p.Ser487Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	NULL	p.S487C	ENST00000399302.2	37	c.1460	CCDS41631.1	11	.	.	.	.	.	.	.	.	.	.	C	14.51	2.556907	0.45590	.	.	ENSG00000060749	ENST00000399302;ENST00000078652;ENST00000527788	T;T	0.44881	1.4;0.91	4.74	4.74	0.60224	.	0.202308	0.34652	N	0.003795	T	0.55689	0.1936	M	0.61703	1.905	0.54753	D	0.999988	D;P	0.58268	0.982;0.927	P;P	0.54026	0.74;0.554	T	0.60291	-0.7292	10	0.56958	D	0.05	.	18.072	0.89410	0.0:1.0:0.0:0.0	.	248;487	Q2KHR3-2;Q2KHR3	.;QSER1_HUMAN	C	487;248;248	ENSP00000382241:S487C;ENSP00000432766:S248C	ENSP00000078652:S248C	S	+	2	0	QSER1	32911227	1.000000	0.71417	0.830000	0.32933	0.504000	0.33889	7.445000	0.80570	2.352000	0.79861	0.467000	0.42956	TCT	QSER1	-	NULL	ENSG00000060749		0.458	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QSER1	HGNC	protein_coding	OTTHUMT00000388448.1	92	0.00	0	C	NM_024774		32954651	32954651	+1	no_errors	ENST00000399302	ensembl	human	known	69_37n	missense	68	19.05	16	SNP	0.988	G
R3HCC1L	27291	genome.wustl.edu	37	10	99995882	99995882	+	Missense_Mutation	SNP	G	G	A	rs115268639	byFrequency	TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:99995882G>A	ENST00000298999.3	+	9	2533	c.2230G>A	c.(2230-2232)Gaa>Aaa	p.E744K	R3HCC1L_ENST00000370584.3_Missense_Mutation_p.E744K|R3HCC1L_ENST00000370586.2_Missense_Mutation_p.E150K|R3HCC1L_ENST00000314594.5_Missense_Mutation_p.E160K	NM_014472.4	NP_055287	Q7Z5L2	R3HCL_HUMAN	R3H domain and coiled-coil containing 1-like	758							nucleotide binding (GO:0000166)										GAGCAAAACCGAACGAGAAGC	0.522													G|||	14	0.00279553	0.0076	0.0014	5008	,	,		19462	0.0		0.003	False		,,,				2504	0.0					dbGAP											0													111.0	105.0	107.0					10																	99995882		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF525304	CCDS31267.1, CCDS58093.1, CCDS73178.1	10q24.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166024	ENSG00000166024			23512	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 28"""	C10orf28			Standard	NM_014472		Approved	GIDRP86, PSORT	uc001kox.4	Q7Z5L2	OTTHUMG00000018873	ENST00000298999.3:c.2230G>A	10.37:g.99995882G>A	ENSP00000298999:p.Glu744Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O60598|Q5W0B4|Q5W0B5|Q86VT9|Q8N9H0	Missense_Mutation	SNP	NULL	p.E744K	ENST00000298999.3	37	c.2230	CCDS31267.1	10	7	0.003205128205128205	4	0.008130081300813009	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	G	14.17	2.456347	0.43634	.	.	ENSG00000166024	ENST00000370584;ENST00000298999;ENST00000370586;ENST00000314594;ENST00000544834	T;T;T;T	0.23348	1.91;1.91;1.91;1.91	5.27	4.37	0.52481	.	0.300521	0.35970	N	0.002871	T	0.21062	0.0507	M	0.71581	2.175	0.39860	D	0.973363	B;P;P	0.49090	0.198;0.919;0.469	B;B;B	0.37833	0.049;0.259;0.232	T	0.21075	-1.0256	9	.	.	.	-4.138	15.3235	0.74141	0.0:0.1409:0.8591:0.0	.	150;758;744	Q7Z5L2-3;Q7Z5L2;Q7Z5L2-2	.;GIDRP_HUMAN;.	K	744;744;150;160;151	ENSP00000359616:E744K;ENSP00000298999:E744K;ENSP00000359618:E150K;ENSP00000314018:E160K	.	E	+	1	0	C10orf28	99985872	0.982000	0.34865	0.616000	0.29078	0.949000	0.60115	1.912000	0.39946	1.352000	0.45808	-0.196000	0.12772	GAA	R3HCC1L	-	NULL	ENSG00000166024		0.522	R3HCC1L-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	R3HCC1L	HGNC	protein_coding	OTTHUMT00000049764.1	68	0.00	0	G	NM_014472		99995882	99995882	+1	no_errors	ENST00000298999	ensembl	human	known	69_37n	missense	41	18.00	9	SNP	0.948	A
R3HDM2	22864	genome.wustl.edu	37	12	57689238	57689238	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:57689238G>C	ENST00000347140.3	-	10	1144	c.754C>G	c.(754-756)Caa>Gaa	p.Q252E	R3HDM2_ENST00000358907.2_Missense_Mutation_p.Q252E|R3HDM2_ENST00000403821.2_Missense_Mutation_p.Q252E|R3HDM2_ENST00000402412.1_Missense_Mutation_p.Q252E|R3HDM2_ENST00000413953.2_Missense_Mutation_p.F7L|RP11-123K3.4_ENST00000548184.1_Missense_Mutation_p.Q43E			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	252	SUZ. {ECO:0000255|PROSITE- ProRule:PRU01009}.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						AACCTCTGTTGAAATTCTGTA	0.423																																						dbGAP											0													204.0	159.0	172.0					12																	57689238		692	1591	2283	-	-	-	SO:0001583	missense	0			AB023219	CCDS8937.2	12q13.3	2012-11-19			ENSG00000179912	ENSG00000179912			29167	protein-coding gene	gene with protein product							Standard	NM_014925		Approved	KIAA1002	uc009zpm.1	Q9Y2K5	OTTHUMG00000171568	ENST00000347140.3:c.754C>G	12.37:g.57689238G>C	ENSP00000317903:p.Gln252Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M1T9|Q3ZCT5	Missense_Mutation	SNP	pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd	p.Q252E	ENST00000347140.3	37	c.754	CCDS8937.2	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.58|19.58	3.853876|3.853876	0.71719|0.71719	.|.	.|.	ENSG00000179912|ENSG00000179912	ENST00000413953;ENST00000393811|ENST00000347140;ENST00000402412;ENST00000358907;ENST00000429355;ENST00000403821;ENST00000547262	T;T|T;T;T;T;T;T	0.39787|0.43688	1.06;1.07|0.97;0.94;0.97;0.94;0.97;0.97	4.99|4.99	4.99|4.99	0.66335|0.66335	.|.	.|0.055536	.|0.64402	.|D	.|0.000001	T|T	0.41789|0.41789	0.1174|0.1174	L|L	0.58510|0.58510	1.815|1.815	0.80722|0.80722	D|D	1|1	B|B;B	0.31817|0.19331	0.341|0.003;0.035	B|B;B	0.32864|0.22601	0.154|0.028;0.04	T|T	0.22382|0.22382	-1.0218|-1.0218	9|10	0.02654|0.20046	T|T	1|0.44	-7.0759|-7.0759	17.5691|17.5691	0.87930|0.87930	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	7|252;252	E9PAL1|B5MCU0;Q9Y2K5	.|.;R3HD2_HUMAN	L|E	7|252;252;252;9;252;140	ENSP00000409146:F7L;ENSP00000377400:F7L|ENSP00000317903:Q252E;ENSP00000385839:Q252E;ENSP00000351784:Q252E;ENSP00000394676:Q9E;ENSP00000385169:Q252E;ENSP00000450411:Q140E	ENSP00000377400:F7L|ENSP00000317903:Q252E	F|Q	-|-	3|1	2|0	R3HDM2|R3HDM2	55975505|55975505	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	9.657000|9.657000	0.98554|0.98554	2.752000|2.752000	0.94435|0.94435	0.655000|0.655000	0.94253|0.94253	TTC|CAA	R3HDM2	-	NULL	ENSG00000179912		0.423	R3HDM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	R3HDM2	HGNC	protein_coding	OTTHUMT00000326570.2	141	0.00	0	G	NM_014925		57689238	57689238	-1	no_errors	ENST00000347140	ensembl	human	known	69_37n	missense	161	21.08	43	SNP	1.000	C
RAB10	10890	genome.wustl.edu	37	2	26257507	26257507	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:26257507C>G	ENST00000264710.4	+	1	529	c.30C>G	c.(28-30)ttC>ttG	p.F10L		NM_016131.4	NP_057215.3	P61026	RAB10_HUMAN	RAB10, member RAS oncogene family	10					antigen processing and presentation (GO:0019882)|axonogenesis (GO:0007409)|basolateral protein localization (GO:0061467)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum tubular network organization (GO:0071786)|endosomal transport (GO:0016197)|establishment of neuroblast polarity (GO:0045200)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|establishment of protein localization to membrane (GO:0090150)|Golgi to plasma membrane protein transport (GO:0043001)|Golgi to plasma membrane transport (GO:0006893)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|polarized epithelial cell differentiation (GO:0030859)|protein localization to plasma membrane (GO:0072659)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum tubular network (GO:0071782)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|insulin-responsive compartment (GO:0032593)|primary cilium (GO:0072372)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			lung(2)|ovary(1)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACCTGCTTTTCAAGCTGCTCC	0.572																																						dbGAP											0													90.0	85.0	87.0					2																	26257507		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF106681	CCDS1720.1	2p23.3	2008-05-21			ENSG00000084733	ENSG00000084733		"""RAB, member RAS oncogene"""	9759	protein-coding gene	gene with protein product	"""ras-related GTP-binding protein"""	612672				7688123	Standard	NM_016131		Approved		uc002rgv.3	P61026	OTTHUMG00000094796	ENST00000264710.4:c.30C>G	2.37:g.26257507C>G	ENSP00000264710:p.Phe10Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	D6W538|O88386|Q6IA52|Q9D7X6|Q9H0T3	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_ARF,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.F10L	ENST00000264710.4	37	c.30	CCDS1720.1	2	.	.	.	.	.	.	.	.	.	.	C	29.4	4.999555	0.93227	.	.	ENSG00000084733	ENST00000264710	T	0.79749	-1.3	5.21	5.21	0.72293	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.83514	0.5271	L	0.31120	0.905	0.80722	D	1	D	0.76494	0.999	D	0.65987	0.94	D	0.85484	0.1181	10	0.66056	D	0.02	.	16.28	0.82672	0.0:1.0:0.0:0.0	.	10	P61026	RAB10_HUMAN	L	10	ENSP00000264710:F10L	ENSP00000264710:F10L	F	+	3	2	RAB10	26111011	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.264000	0.58859	2.432000	0.82394	0.655000	0.94253	TTC	RAB10	-	pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000084733		0.572	RAB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB10	HGNC	protein_coding	OTTHUMT00000211610.1	56	0.00	0	C	NM_016131		26257507	26257507	+1	no_errors	ENST00000264710	ensembl	human	known	69_37n	missense	40	29.82	17	SNP	1.000	G
RAB11FIP4	84440	genome.wustl.edu	37	17	29844699	29844699	+	Missense_Mutation	SNP	G	G	A	rs145415010	byFrequency	TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:29844699G>A	ENST00000325874.8	+	4	596	c.367G>A	c.(367-369)Gat>Aat	p.D123N	RAB11FIP4_ENST00000394744.2_Missense_Mutation_p.D21N|RN7SL45P_ENST00000578050.1_RNA	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	123	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis (GO:0000910)|transport (GO:0006810)|viral process (GO:0016032)	cleavage furrow (GO:0032154)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|midbody (GO:0030496)|recycling endosome membrane (GO:0055038)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				CACCTTTGCTGATGGCGAGCT	0.602																																						dbGAP											0													26.0	23.0	24.0					17																	29844699		2202	4299	6501	-	-	-	SO:0001583	missense	0			AB058724	CCDS11267.1	17q11.2	2013-01-10			ENSG00000131242	ENSG00000131242		"""EF-hand domain containing"""	30267	protein-coding gene	gene with protein product		611999				11347906, 11468690	Standard	NM_032932		Approved	RAB11-FIP4, KIAA1821, MGC11316, FLJ00131	uc002hgn.1	Q86YS3	OTTHUMG00000132787	ENST00000325874.8:c.367G>A	17.37:g.29844699G>A	ENSP00000312837:p.Asp123Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q52LI1|Q8N829|Q8NDT7|Q969D8	Missense_Mutation	SNP	pfam_Rab-bd_FIP-RBD,pfscan_EF_HAND_2	p.D123N	ENST00000325874.8	37	c.367	CCDS11267.1	17	.	.	.	.	.	.	.	.	.	.	G	13.42	2.231383	0.39399	.	.	ENSG00000131242	ENST00000325874;ENST00000394744	.	.	.	5.54	5.54	0.83059	.	0.183252	0.46758	D	0.000263	T	0.48150	0.1484	L	0.38175	1.15	0.40961	D	0.984627	P;B	0.35575	0.51;0.309	B;B	0.35413	0.202;0.058	T	0.45323	-0.9269	8	.	.	.	-26.0407	14.9838	0.71330	0.0:0.0:1.0:0.0	.	21;123	Q86YS3-2;Q86YS3	.;RFIP4_HUMAN	N	123	.	.	D	+	1	0	RAB11FIP4	26868819	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	3.068000	0.50018	2.616000	0.88540	0.505000	0.49811	GAT	RAB11FIP4	-	NULL	ENSG00000131242		0.602	RAB11FIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB11FIP4	HGNC	protein_coding	OTTHUMT00000256195.2	37	0.00	0	G	NM_032932		29844699	29844699	+1	no_errors	ENST00000325874	ensembl	human	known	69_37n	missense	14	30.00	6	SNP	0.994	A
RAB11FIP4	84440	genome.wustl.edu	37	17	29852190	29852190	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:29852190G>A	ENST00000325874.8	+	10	1445	c.1216G>A	c.(1216-1218)Gag>Aag	p.E406K	RAB11FIP4_ENST00000394744.2_Missense_Mutation_p.E304K	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	406	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis (GO:0000910)|transport (GO:0006810)|viral process (GO:0016032)	cleavage furrow (GO:0032154)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|midbody (GO:0030496)|recycling endosome membrane (GO:0055038)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				GCGCCACCGCGAGGCCTACGG	0.677																																						dbGAP											0													30.0	24.0	26.0					17																	29852190		1960	3879	5839	-	-	-	SO:0001583	missense	0			AB058724	CCDS11267.1	17q11.2	2013-01-10			ENSG00000131242	ENSG00000131242		"""EF-hand domain containing"""	30267	protein-coding gene	gene with protein product		611999				11347906, 11468690	Standard	NM_032932		Approved	RAB11-FIP4, KIAA1821, MGC11316, FLJ00131	uc002hgn.1	Q86YS3	OTTHUMG00000132787	ENST00000325874.8:c.1216G>A	17.37:g.29852190G>A	ENSP00000312837:p.Glu406Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q52LI1|Q8N829|Q8NDT7|Q969D8	Missense_Mutation	SNP	pfam_Rab-bd_FIP-RBD,pfscan_EF_HAND_2	p.E406K	ENST00000325874.8	37	c.1216	CCDS11267.1	17	.	.	.	.	.	.	.	.	.	.	G	20.2	3.950584	0.73787	.	.	ENSG00000131242	ENST00000325874;ENST00000394744	T	0.18657	2.2	6.08	6.08	0.98989	.	0.046217	0.85682	D	0.000000	T	0.39809	0.1092	M	0.63428	1.95	0.80722	D	1	D;P	0.71674	0.998;0.84	P;B	0.58721	0.844;0.108	T	0.01819	-1.1267	9	.	.	.	-37.096	16.1635	0.81734	0.0:0.0:1.0:0.0	.	304;406	Q86YS3-2;Q86YS3	.;RFIP4_HUMAN	K	406	ENSP00000312837:E406K	.	E	+	1	0	RAB11FIP4	26876310	1.000000	0.71417	0.966000	0.40874	0.810000	0.45777	9.442000	0.97566	2.894000	0.99253	0.655000	0.94253	GAG	RAB11FIP4	-	NULL	ENSG00000131242		0.677	RAB11FIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB11FIP4	HGNC	protein_coding	OTTHUMT00000256195.2	19	0.00	0	G	NM_032932		29852190	29852190	+1	no_errors	ENST00000325874	ensembl	human	known	69_37n	missense	13	26.32	5	SNP	1.000	A
RAB12	201475	genome.wustl.edu	37	18	8638171	8638171	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr18:8638171G>A	ENST00000329286.6	+	6	929	c.646G>A	c.(646-648)Gag>Aag	p.E216K	RP11-661O13.1_ENST00000580267.1_RNA	NM_001025300.2	NP_001020471.2	Q6IQ22	RAB12_HUMAN	RAB12, member RAS oncogene family	216					autophagy (GO:0006914)|cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|recycling endosome membrane (GO:0055038)|secretory granule (GO:0030141)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			breast(1)|lung(4)|prostate(1)|urinary_tract(1)	7						TTTAAGGAATGAGTTGTCCAA	0.408																																						dbGAP											0													95.0	92.0	93.0					18																	8638171		1908	4116	6024	-	-	-	SO:0001583	missense	0				CCDS42410.1	18p11.22	2006-12-18				ENSG00000206418		"""RAB, member RAS oncogene"""	31332	protein-coding gene	gene with protein product							Standard	NM_001025300		Approved		uc002knp.3	Q6IQ22		ENST00000329286.6:c.646G>A	18.37:g.8638171G>A	ENSP00000331748:p.Glu216Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEF5|Q4KMQ3	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,pfam_Gtr1_RagA,pfam_SRP_receptor_beta_su,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.E216K	ENST00000329286.6	37	c.646	CCDS42410.1	18	.	.	.	.	.	.	.	.	.	.	G	19.81	3.897084	0.72639	.	.	ENSG00000206418	ENST00000329286	T	0.62364	0.03	6.07	6.07	0.98685	.	0.064987	0.64402	U	0.000014	T	0.68016	0.2955	N	0.19112	0.55	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	T	0.62353	-0.6872	10	0.22109	T	0.4	.	20.6452	0.99591	0.0:0.0:1.0:0.0	.	216	Q6IQ22	RAB12_HUMAN	K	216	ENSP00000331748:E216K	ENSP00000331748:E216K	E	+	1	0	RAB12	8628171	1.000000	0.71417	0.929000	0.37066	0.987000	0.75469	9.119000	0.94362	2.885000	0.99019	0.650000	0.86243	GAG	RAB12	-	smart_Ran_GTPase	ENSG00000206418		0.408	RAB12-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	RAB12	HGNC	protein_coding	OTTHUMT00000444080.1	111	0.00	0	G	XM_113967		8638171	8638171	+1	no_errors	ENST00000329286	ensembl	human	known	69_37n	missense	36	34.55	19	SNP	1.000	A
RAB13	5872	genome.wustl.edu	37	1	153955277	153955277	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:153955277G>A	ENST00000368575.3	-	5	447	c.332C>T	c.(331-333)tCg>tTg	p.S111L	RAB13_ENST00000462680.1_5'UTR	NM_002870.2	NP_002861.1	P51153	RAB13_HUMAN	RAB13, member RAS oncogene family	111					cellular response to insulin stimulus (GO:0032869)|cortical actin cytoskeleton organization (GO:0030866)|endocytic recycling (GO:0032456)|endosomal transport (GO:0016197)|endothelial cell chemotaxis (GO:0035767)|establishment of protein localization to plasma membrane (GO:0090002)|establishment of Sertoli cell barrier (GO:0097368)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|protein kinase A signaling (GO:0010737)|protein localization to cell leading edge (GO:1902463)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)|trans-Golgi network to recycling endosome transport (GO:0044795)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|insulin-responsive compartment (GO:0032593)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|tight junction (GO:0005923)|trans-Golgi network (GO:0005802)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(3)|kidney(1)|lung(5)|urinary_tract(1)	11	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CACCCCAGCCGAGGCATTCTG	0.607																																					Ovarian(138;395 2427 24306 43415)	dbGAP											0													41.0	38.0	39.0					1																	153955277		2203	4300	6503	-	-	-	SO:0001583	missense	0			X75593	CCDS1058.1, CCDS72921.1	1q21.2	2008-02-05			ENSG00000143545	ENSG00000143545		"""RAB, member RAS oncogene"""	9762	protein-coding gene	gene with protein product		602672				8294494	Standard	NM_002870		Approved		uc001fdt.2	P51153	OTTHUMG00000036589	ENST00000368575.3:c.332C>T	1.37:g.153955277G>A	ENSP00000357564:p.Ser111Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6B5|D3DV67|Q5U0A6|Q6GPG6|Q96GU4	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_ProtSyn_GTP-bd,pfam_SRP_receptor_beta_su,smart_Small_GTPase_ARF,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.S111L	ENST00000368575.3	37	c.332	CCDS1058.1	1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.943499	0.53079	.	.	ENSG00000143545	ENST00000368575	T	0.77620	-1.11	4.95	4.95	0.65309	Small GTP-binding protein domain (1);	0.070972	0.64402	D	0.000014	T	0.61788	0.2375	L	0.41356	1.27	0.80722	D	1	B	0.17038	0.02	B	0.12156	0.007	T	0.64976	-0.6280	10	0.87932	D	0	.	15.7383	0.77863	0.0:0.0:1.0:0.0	.	111	P51153	RAB13_HUMAN	L	111	ENSP00000357564:S111L	ENSP00000357564:S111L	S	-	2	0	RAB13	152221901	1.000000	0.71417	0.953000	0.39169	0.065000	0.16274	9.073000	0.93992	2.589000	0.87451	0.650000	0.86243	TCG	RAB13	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_ProtSyn_GTP-bd,pfam_SRP_receptor_beta_su,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000143545		0.607	RAB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB13	HGNC	protein_coding	OTTHUMT00000088992.1	67	0.00	0	G	NM_002870		153955277	153955277	-1	no_errors	ENST00000368575	ensembl	human	known	69_37n	missense	70	16.47	14	SNP	1.000	A
RAB21	23011	genome.wustl.edu	37	12	72175817	72175817	+	Missense_Mutation	SNP	A	A	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:72175817A>G	ENST00000261263.3	+	5	654	c.398A>G	c.(397-399)aAa>aGa	p.K133R		NM_014999.2	NP_055814.1	Q9UL25	RAB21_HUMAN	RAB21, member RAS oncogene family	133					GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(1)|lung(4)|prostate(1)	6						ATAGGTAATAAAATAGACTTG	0.303																																						dbGAP											0													60.0	61.0	60.0					12																	72175817		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF091035	CCDS9003.1	12q21.1	2014-09-04			ENSG00000080371	ENSG00000080371		"""RAB, member RAS oncogene"""	18263	protein-coding gene	gene with protein product		612398				10887961, 11697911, 16754960	Standard	NM_014999		Approved	KIAA0118	uc001swt.3	Q9UL25	OTTHUMG00000169572	ENST00000261263.3:c.398A>G	12.37:g.72175817A>G	ENSP00000261263:p.Lys133Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14466|Q569H3	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,pfam_Gtr1_RagA,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.K133R	ENST00000261263.3	37	c.398	CCDS9003.1	12	.	.	.	.	.	.	.	.	.	.	A	27.6	4.843219	0.91197	.	.	ENSG00000080371	ENST00000261263	D	0.84800	-1.9	5.54	5.54	0.83059	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.95934	0.8676	H	0.99074	4.42	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97905	1.0305	10	0.87932	D	0	-2.0809	15.9801	0.80102	1.0:0.0:0.0:0.0	.	133	Q9UL25	RAB21_HUMAN	R	133	ENSP00000261263:K133R	ENSP00000261263:K133R	K	+	2	0	RAB21	70462084	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	8.405000	0.90213	2.230000	0.72887	0.528000	0.53228	AAA	RAB21	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000080371		0.303	RAB21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB21	HGNC	protein_coding	OTTHUMT00000404855.1	63	0.00	0	A			72175817	72175817	+1	no_errors	ENST00000261263	ensembl	human	known	69_37n	missense	24	64.71	44	SNP	1.000	G
RAB36	9609	genome.wustl.edu	37	22	23501136	23501136	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:23501136C>G	ENST00000263116.2	+	8	736	c.696C>G	c.(694-696)atC>atG	p.I232M	RAB36_ENST00000341989.4_Missense_Mutation_p.I210M	NM_004914.2	NP_004905.2	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family	232					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		CCTGCTTCATCTTCCTCGTGG	0.582																																						dbGAP											0													80.0	63.0	69.0					22																	23501136		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023061	CCDS13805.1	22q11.22	2008-06-11			ENSG00000100228	ENSG00000100228		"""RAB, member RAS oncogene"""	9775	protein-coding gene	gene with protein product		605662				9920784, 10591208	Standard	NM_004914		Approved		uc002zwv.1	O95755	OTTHUMG00000150601	ENST00000263116.2:c.696C>G	22.37:g.23501136C>G	ENSP00000263116:p.Ile232Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M390|Q7Z4A9|Q9UHP5	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,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.I232M	ENST00000263116.2	37	c.696	CCDS13805.1	22	.	.	.	.	.	.	.	.	.	.	C	10.33	1.319446	0.23994	.	.	ENSG00000100228	ENST00000263116;ENST00000341989	D;D	0.82167	-1.58;-1.58	5.23	0.491	0.16867	Small GTP-binding protein domain (1);	0.401940	0.24615	N	0.037018	T	0.75700	0.3885	L	0.52823	1.66	0.27523	N	0.951325	B;B	0.23185	0.081;0.066	B;B	0.32928	0.033;0.155	T	0.67760	-0.5587	10	0.66056	D	0.02	-12.9759	2.5943	0.04850	0.1299:0.4788:0.2112:0.1801	.	210;232	O95755-2;O95755	.;RAB36_HUMAN	M	232;210	ENSP00000263116:I232M;ENSP00000343494:I210M	ENSP00000263116:I232M	I	+	3	3	RAB36	21831136	0.186000	0.23225	0.938000	0.37757	0.497000	0.33675	-0.186000	0.09670	0.699000	0.31761	0.462000	0.41574	ATC	RAB36	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000100228		0.582	RAB36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB36	HGNC	protein_coding	OTTHUMT00000319046.1	49	0.00	0	C	NM_004914		23501136	23501136	+1	no_errors	ENST00000263116	ensembl	human	known	69_37n	missense	51	25.00	17	SNP	0.336	G
RAB36	9609	genome.wustl.edu	37	22	23503088	23503088	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:23503088C>A	ENST00000263116.2	+	10	880	c.840C>A	c.(838-840)ttC>ttA	p.F280L	RAB36_ENST00000341989.4_Missense_Mutation_p.F258L	NM_004914.2	NP_004905.2	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family	280					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		AGGCATTCTTCAGCCGCGTAG	0.612																																						dbGAP											0													75.0	65.0	68.0					22																	23503088		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023061	CCDS13805.1	22q11.22	2008-06-11			ENSG00000100228	ENSG00000100228		"""RAB, member RAS oncogene"""	9775	protein-coding gene	gene with protein product		605662				9920784, 10591208	Standard	NM_004914		Approved		uc002zwv.1	O95755	OTTHUMG00000150601	ENST00000263116.2:c.840C>A	22.37:g.23503088C>A	ENSP00000263116:p.Phe280Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M390|Q7Z4A9|Q9UHP5	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,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.F280L	ENST00000263116.2	37	c.840	CCDS13805.1	22	.	.	.	.	.	.	.	.	.	.	C	20.6	4.023307	0.75390	.	.	ENSG00000100228	ENST00000263116;ENST00000341989	D;D	0.82526	-1.62;-1.62	5.49	3.39	0.38822	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90024	0.6885	M	0.87827	2.91	0.58432	D	0.999999	D;D	0.89917	0.99;1.0	P;D	0.79784	0.701;0.993	D	0.89747	0.3937	10	0.87932	D	0	-29.8299	6.941	0.24492	0.0:0.7372:0.0:0.2628	.	258;280	O95755-2;O95755	.;RAB36_HUMAN	L	280;258	ENSP00000263116:F280L;ENSP00000343494:F258L	ENSP00000263116:F280L	F	+	3	2	RAB36	21833088	1.000000	0.71417	1.000000	0.80357	0.399000	0.30720	1.267000	0.33050	1.480000	0.48289	0.655000	0.94253	TTC	RAB36	-	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000100228		0.612	RAB36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB36	HGNC	protein_coding	OTTHUMT00000319046.1	23	0.00	0	C	NM_004914		23503088	23503088	+1	no_errors	ENST00000263116	ensembl	human	known	69_37n	missense	31	32.61	15	SNP	1.000	A
RAB3GAP1	22930	genome.wustl.edu	37	2	135870805	135870805	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:135870805G>A	ENST00000264158.8	+	6	490	c.447G>A	c.(445-447)ctG>ctA	p.L149L	RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000539493.1_Silent_p.L105L|RAB3GAP1_ENST00000442034.1_Silent_p.L149L	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	149					brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		ACCTTCTTCTGAGTTCTGTTT	0.398																																						dbGAP											0													168.0	150.0	156.0					2																	135870805		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.447G>A	2.37:g.135870805G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8Z3|C9J837|Q659F5|Q8TBB4	Silent	SNP	NULL	p.L149	ENST00000264158.8	37	c.447	CCDS33294.1	2																																																																																			RAB3GAP1	-	NULL	ENSG00000115839		0.398	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB3GAP1	HGNC	protein_coding	OTTHUMT00000337514.2	121	0.00	0	G	NM_012233		135870805	135870805	+1	no_errors	ENST00000264158	ensembl	human	known	69_37n	silent	139	18.71	32	SNP	0.999	A
RAB3GAP1	22930	genome.wustl.edu	37	2	135911344	135911344	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:135911344G>A	ENST00000264158.8	+	19	2230	c.2187G>A	c.(2185-2187)atG>atA	p.M729I	RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.M685I|ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.M729I	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	729					brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		GTGCCCGGATGAAGATTCCAA	0.458																																						dbGAP											0													118.0	118.0	118.0					2																	135911344		2203	4300	6503	-	-	-	SO:0001583	missense	0			D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.2187G>A	2.37:g.135911344G>A	ENSP00000264158:p.Met729Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8Z3|C9J837|Q659F5|Q8TBB4	Missense_Mutation	SNP	NULL	p.M729I	ENST00000264158.8	37	c.2187	CCDS33294.1	2	.	.	.	.	.	.	.	.	.	.	G	29.3	4.993860	0.93167	.	.	ENSG00000115839	ENST00000264158;ENST00000539493;ENST00000442034	T;T;T	0.67171	-0.24;-0.25;-0.25	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.78698	0.4324	M	0.90977	3.165	0.80722	D	1	B;B	0.32302	0.363;0.309	B;B	0.37833	0.259;0.132	T	0.80863	-0.1192	10	0.59425	D	0.04	-19.22	19.5144	0.95157	0.0:0.0:1.0:0.0	.	729;729	C9J837;Q15042	.;RB3GP_HUMAN	I	729;685;729	ENSP00000264158:M729I;ENSP00000444306:M685I;ENSP00000411418:M729I	ENSP00000264158:M729I	M	+	3	0	RAB3GAP1	135627814	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.817000	0.99352	2.618000	0.88619	0.655000	0.94253	ATG	RAB3GAP1	-	NULL	ENSG00000115839		0.458	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB3GAP1	HGNC	protein_coding	OTTHUMT00000337514.2	76	0.00	0	G	NM_012233		135911344	135911344	+1	no_errors	ENST00000264158	ensembl	human	known	69_37n	missense	104	16.80	21	SNP	1.000	A
RAB4B	53916	genome.wustl.edu	37	19	41292818	41292818	+	Missense_Mutation	SNP	C	C	T	rs369688842		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:41292818C>T	ENST00000594800.1	+	7	752	c.592C>T	c.(592-594)Cgg>Tgg	p.R198W	RAB4B_ENST00000357052.2_Missense_Mutation_p.R198W|RAB4B-EGLN2_ENST00000601949.1_3'UTR|RAB4B-EGLN2_ENST00000594136.1_Missense_Mutation_p.R198W			P61018	RAB4B_HUMAN	RAB4B, member RAS oncogene family	198					glucose import (GO:0046323)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	insulin-responsive compartment (GO:0032593)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	GTP binding (GO:0005525)			endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	11			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CCGCCAGCTTCGGCAGCCTCG	0.677																																						dbGAP											0													40.0	40.0	40.0					19																	41292818		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF165522	CCDS33030.1	19q13.2	2012-10-15			ENSG00000167578	ENSG00000167578		"""RAB, member RAS oncogene"""	9782	protein-coding gene	gene with protein product	"""ras-related GTP-binding protein 4b"", ""small GTP binding protein RAB4B"""	612945					Standard	NM_016154		Approved	FLJ78649, MGC52123	uc002opd.2	P61018		ENST00000594800.1:c.592C>T	19.37:g.41292818C>T	ENSP00000470246:p.Arg198Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	P22750|Q7Z514|Q9HBR6	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,pfam_Gtr1_RagA,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.R198W	ENST00000594800.1	37	c.592	CCDS33030.1	19	.	.	.	.	.	.	.	.	.	.	-	14.03	2.413759	0.42817	.	.	ENSG00000167578	ENST00000357052	T	0.63913	-0.07	4.77	2.58	0.30949	.	0.076168	0.52532	D	0.000069	T	0.57286	0.2043	N	0.14661	0.345	0.80722	D	1	D;D	0.71674	0.998;0.991	P;P	0.57776	0.827;0.586	T	0.61063	-0.7138	10	0.66056	D	0.02	.	11.7145	0.51643	0.4638:0.5362:0.0:0.0	.	233;198	P61018-2;P61018	.;RAB4B_HUMAN	W	198	ENSP00000349560:R198W	ENSP00000349560:R198W	R	+	1	2	RAB4B	45984658	0.948000	0.32251	1.000000	0.80357	0.002000	0.02628	0.963000	0.29293	0.588000	0.29660	-0.455000	0.05494	CGG	RAB4B	-	smart_Ran_GTPase	ENSG00000167578		0.677	RAB4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB4B	HGNC	protein_coding	OTTHUMT00000463168.1	31	0.00	0	C	NM_016154		41292818	41292818	+1	no_errors	ENST00000357052	ensembl	human	known	69_37n	missense	21	38.24	13	SNP	1.000	T
RABEP2	79874	genome.wustl.edu	37	16	28935841	28935841	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:28935841C>G	ENST00000358201.4	-	2	745	c.157G>C	c.(157-159)Gaa>Caa	p.E53Q	RABEP2_ENST00000544477.1_Intron|RABEP2_ENST00000357573.6_Missense_Mutation_p.E53Q|RABEP2_ENST00000561803.1_5'UTR	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	53					endocytosis (GO:0006897)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						GTTTCCATTTCTGCCAGGGCG	0.657																																					Pancreas(66;639 1284 10093 31061 49099)	dbGAP											0													48.0	54.0	52.0					16																	28935841		2080	4213	6293	-	-	-	SO:0001583	missense	0			AK026935	CCDS42140.1	16p11.2	2014-09-11			ENSG00000177548	ENSG00000177548			24817	protein-coding gene	gene with protein product		611869				12477932	Standard	NM_024816		Approved	FRA, FLJ23282	uc002drq.3	Q9H5N1	OTTHUMG00000176593	ENST00000358201.4:c.157G>C	16.37:g.28935841C>G	ENSP00000350934:p.Glu53Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Rabaptin_coiled-coil,pfam_Rabaptin_Rab5-bd_dom,prints_Rabaptin	p.E53Q	ENST00000358201.4	37	c.157	CCDS42140.1	16	.	.	.	.	.	.	.	.	.	.	C	29.3	4.991083	0.93106	.	.	ENSG00000177548	ENST00000358201;ENST00000357573	T;T	0.57752	0.39;0.38	3.76	3.76	0.43208	.	0.068366	0.64402	D	0.000015	T	0.58963	0.2159	N	0.24115	0.695	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.83275	0.996;0.994;0.994	T	0.65681	-0.6109	10	0.87932	D	0	-10.8054	14.9063	0.70721	0.0:1.0:0.0:0.0	.	53;53;53	Q9H5N1-2;Q49AT6;Q9H5N1	.;.;RABE2_HUMAN	Q	53	ENSP00000350934:E53Q;ENSP00000350186:E53Q	ENSP00000350186:E53Q	E	-	1	0	RABEP2	28843342	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	5.188000	0.65093	2.106000	0.64143	0.555000	0.69702	GAA	RABEP2	-	prints_Rabaptin	ENSG00000177548		0.657	RABEP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RABEP2	HGNC	protein_coding	OTTHUMT00000432691.1	22	0.00	0	C	NM_024816		28935841	28935841	-1	no_errors	ENST00000358201	ensembl	human	known	69_37n	missense	24	27.27	9	SNP	1.000	G
RABGAP1	23637	genome.wustl.edu	37	9	125748604	125748604	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:125748604G>A	ENST00000373647.4	+	4	630	c.496G>A	c.(496-498)Gaa>Aaa	p.E166K		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	166	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						GAGTGAAGTGGAAGCCTTAAG	0.463																																						dbGAP											0													184.0	168.0	174.0					9																	125748604		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"""rab6 GTPase activating protein (GAP and centrosome-associated)"", ""TBC1 domain family, member 11"""	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.496G>A	9.37:g.125748604G>A	ENSP00000362751:p.Glu166Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,pfam_PTyr_interaction_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTyr_interaction_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTyr_interaction_dom,pfscan_Rab-GTPase-TBC_dom	p.E166K	ENST00000373647.4	37	c.496	CCDS6848.2	9	.	.	.	.	.	.	.	.	.	.	G	35	5.489580	0.96323	.	.	ENSG00000011454	ENST00000373647;ENST00000317419	T	0.19394	2.15	5.16	5.16	0.70880	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.193412	0.44097	D	0.000486	T	0.52354	0.1729	M	0.86028	2.79	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.81914	0.995;0.987	T	0.59621	-0.7420	10	0.66056	D	0.02	-19.4291	17.6581	0.88183	0.0:0.0:1.0:0.0	.	166;166	Q9Y3P9;Q9Y3P9-4	RBGP1_HUMAN;.	K	166	ENSP00000362751:E166K	ENSP00000324973:E166K	E	+	1	0	RABGAP1	124788425	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.422000	0.97458	2.416000	0.81992	0.557000	0.71058	GAA	RABGAP1	-	pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom	ENSG00000011454		0.463	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABGAP1	HGNC	protein_coding	OTTHUMT00000053976.3	101	0.00	0	G	NM_012197		125748604	125748604	+1	no_errors	ENST00000373647	ensembl	human	known	69_37n	missense	76	34.48	40	SNP	1.000	A
RABGAP1L	9910	genome.wustl.edu	37	1	174245061	174245061	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:174245061G>C	ENST00000251507.4	+	9	1318	c.1144G>C	c.(1144-1146)Gaa>Caa	p.E382Q	RABGAP1L_ENST00000367689.3_Missense_Mutation_p.E29Q|RABGAP1L_ENST00000357444.6_Missense_Mutation_p.E345Q	NM_014857.4	NP_055672.3	B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like	0										NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						ACTTAACGAGGAAACCCCAAA	0.358																																						dbGAP											0													79.0	78.0	79.0					1																	174245061		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF279778	CCDS1314.1, CCDS41437.1, CCDS55662.1, CCDS58046.1	1q24	2011-11-21			ENSG00000152061	ENSG00000152061			24663	protein-coding gene	gene with protein product		609238				10585558	Standard	NM_014857		Approved	HHL, TBC1D18, KIAA0471, FLJ38519	uc001gjx.3	B7ZAP0	OTTHUMG00000034899	ENST00000251507.4:c.1144G>C	1.37:g.174245061G>C	ENSP00000251507:p.Glu382Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZAA4	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,pfam_PTyr_interaction_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTyr_interaction_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTyr_interaction_dom,pfscan_Rab-GTPase-TBC_dom	p.E382Q	ENST00000251507.4	37	c.1144	CCDS1314.1	1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.578669	0.86645	.	.	ENSG00000152061	ENST00000357444;ENST00000367689;ENST00000251507;ENST00000457696;ENST00000367692	T;T;T	0.53423	0.62;3.25;0.62	5.37	5.37	0.77165	.	0.158255	0.56097	D	0.000029	T	0.71762	0.3378	M	0.81497	2.545	0.80722	D	1	D;D;D;D;D	0.67145	0.996;0.994;0.996;0.996;0.993	D;D;D;D;D	0.74023	0.964;0.946;0.982;0.982;0.91	T	0.75838	-0.3176	10	0.87932	D	0	.	19.1063	0.93296	0.0:0.0:1.0:0.0	.	394;29;382;382;345	B7WPG6;Q5JZA9;F1LJ00;Q5R372;Q5R372-2	.;.;.;RBG1L_HUMAN;.	Q	345;29;382;394;394	ENSP00000350027:E345Q;ENSP00000251507:E382Q;ENSP00000403136:E394Q	ENSP00000251507:E382Q	E	+	1	0	RABGAP1L	172511684	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	9.280000	0.95786	2.528000	0.85240	0.551000	0.68910	GAA	RABGAP1L	-	pfam_Kinesin-like	ENSG00000152061		0.358	RABGAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABGAP1L	HGNC	protein_coding	OTTHUMT00000084497.1	45	0.00	0	G	NM_001243765		174245061	174245061	+1	no_errors	ENST00000251507	ensembl	human	known	69_37n	missense	51	24.64	17	SNP	1.000	C
RAD17	5884	genome.wustl.edu	37	5	68669831	68669831	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:68669831G>C	ENST00000509734.1	+	4	895	c.217G>C	c.(217-219)Gaa>Caa	p.E73Q	RAD17_ENST00000504177.1_Intron|RAD17_ENST00000354868.5_Missense_Mutation_p.E62Q|RAD17_ENST00000380774.3_Missense_Mutation_p.E73Q|RAD17_ENST00000521422.1_5'UTR|RAD17_ENST00000361732.2_Missense_Mutation_p.E62Q|RAD17_ENST00000282891.6_Intron|RAD17_ENST00000305138.4_Missense_Mutation_p.E62Q|RAD17_ENST00000354312.3_Missense_Mutation_p.E62Q|RAD17_ENST00000358030.2_5'UTR|RAD17_ENST00000345306.6_Missense_Mutation_p.E62Q			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	73					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)		ATCTTCCTTAGAACAGATTTA	0.343								Other conserved DNA damage response genes																														dbGAP											0													76.0	82.0	80.0					5																	68669831		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.217G>C	5.37:g.68669831G>C	ENSP00000426191:p.Glu73Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8X2|D3DWA5|O75714|Q7Z3S4|Q9UNK7|Q9UNR7|Q9UNR8|Q9UPF5	Missense_Mutation	SNP	tigrfam_Checkpoint_prot_Rad24_fun/met	p.E73Q	ENST00000509734.1	37	c.217	CCDS4003.1	5	.	.	.	.	.	.	.	.	.	.	G	9.682	1.149524	0.21288	.	.	ENSG00000152942	ENST00000361732;ENST00000509734;ENST00000354868;ENST00000354312;ENST00000345306;ENST00000506564;ENST00000305138;ENST00000380774	T;T;T;T;T;T;T;T	0.44083	2.24;2.27;2.24;2.24;2.24;0.93;2.24;2.27	5.49	1.6	0.23607	.	0.336355	0.36628	N	0.002498	T	0.32041	0.0816	L	0.47716	1.5	0.33492	D	0.588767	B;B	0.10296	0.002;0.003	B;B	0.12156	0.002;0.007	T	0.33828	-0.9853	10	0.25106	T	0.35	-12.4356	9.6741	0.40030	0.3239:0.0:0.6761:0.0	.	73;62	O75943;O75943-2	RAD17_HUMAN;.	Q	62;73;62;62;62;62;62;73	ENSP00000355226:E62Q;ENSP00000426191:E73Q;ENSP00000346938:E62Q;ENSP00000346271:E62Q;ENSP00000311227:E62Q;ENSP00000424696:E62Q;ENSP00000303134:E62Q;ENSP00000370151:E73Q	ENSP00000303134:E62Q	E	+	1	0	RAD17	68705587	0.669000	0.27502	0.013000	0.15412	0.638000	0.38207	0.490000	0.22403	0.360000	0.24265	0.563000	0.77884	GAA	RAD17	-	tigrfam_Checkpoint_prot_Rad24_fun/met	ENSG00000152942		0.343	RAD17-008	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	RAD17	HGNC	protein_coding	OTTHUMT00000369171.1	63	0.00	0	G	NM_133344		68669831	68669831	+1	no_errors	ENST00000380774	ensembl	human	known	69_37n	missense	43	28.33	17	SNP	0.103	C
RAD21L1	642636	genome.wustl.edu	37	20	1220030	1220030	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:1220030G>A	ENST00000409241.1	+	7	814	c.721G>A	c.(721-723)Gag>Aag	p.E241K	RAD21L1_ENST00000402452.1_Missense_Mutation_p.E241K|RAD21L1_ENST00000381882.2_Missense_Mutation_p.E241K	NM_001136566.2	NP_001130038.2	Q9H4I0	RD21L_HUMAN	RAD21-like 1 (S. pombe)	241					attachment of telomeric heterochromatin to nuclear envelope (GO:0070197)|chromosome segregation (GO:0007059)|double-strand break repair via homologous recombination (GO:0000724)|fertilization (GO:0009566)|linear element assembly (GO:0030999)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)	chromosome (GO:0005694)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleus (GO:0005634)				NS(1)|breast(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	7						CCTGCCTTCTGAGCCTCCCAA	0.338																																						dbGAP											0													124.0	113.0	116.0					20																	1220030		692	1590	2282	-	-	-	SO:0001583	missense	0			AL031665	CCDS46568.1	20p13	2011-08-12			ENSG00000244588	ENSG00000244588			16271	protein-coding gene	gene with protein product							Standard	NM_001136566		Approved	dJ545L17.2, RAD21L	uc010gab.1	Q9H4I0	OTTHUMG00000031664	ENST00000409241.1:c.721G>A	20.37:g.1220030G>A	ENSP00000386414:p.Glu241Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RXL0|B7ZBB1|B7ZW76|Q5W0X5	Missense_Mutation	SNP	pfam_Rad21_Rec8_N,pfam_Rad21/Rec8_C_eu	p.E241K	ENST00000409241.1	37	c.721	CCDS46568.1	20	.	.	.	.	.	.	.	.	.	.	G	15.65	2.895070	0.52121	.	.	ENSG00000244588	ENST00000402452;ENST00000409241;ENST00000381882	T;T;T	0.42513	0.97;0.97;0.97	5.21	5.21	0.72293	.	.	.	.	.	T	0.44329	0.1288	M	0.73598	2.24	0.28512	N	0.913517	B	0.33512	0.415	B	0.35278	0.199	T	0.43669	-0.9377	9	0.37606	T	0.19	.	9.6556	0.39923	0.092:0.0:0.908:0.0	.	241	Q9H4I0	RD21L_HUMAN	K	241	ENSP00000385925:E241K;ENSP00000386414:E241K;ENSP00000371306:E241K	ENSP00000371306:E241K	E	+	1	0	RAD21L1	1168030	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	3.298000	0.51818	2.705000	0.92388	0.557000	0.71058	GAG	RAD21L1	-	NULL	ENSG00000244588		0.338	RAD21L1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD21L1	HGNC	protein_coding	OTTHUMT00000334022.1	101	0.00	0	G			1220030	1220030	+1	no_errors	ENST00000409241	ensembl	human	known	69_37n	missense	125	24.24	40	SNP	1.000	A
RAD23B	5887	genome.wustl.edu	37	9	110086287	110086287	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:110086287C>G	ENST00000358015.3	+	8	1285	c.934C>G	c.(934-936)Caa>Gaa	p.Q312E	RAD23B_ENST00000416373.2_Missense_Mutation_p.Q240E	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN	RAD23 homolog B (S. cerevisiae)	312	STI1.				DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|XPC complex (GO:0071942)	damaged DNA binding (GO:0003684)|polyubiquitin binding (GO:0031593)|single-stranded DNA binding (GO:0003697)			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						AGAGAATCCTCAATTACTTCA	0.413								Direct reversal of damage;Nucleotide excision repair (NER)																														dbGAP											0													138.0	124.0	129.0					9																	110086287		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6769.1, CCDS59138.1	9q31.2	2008-07-21	2001-11-28		ENSG00000119318	ENSG00000119318			9813	protein-coding gene	gene with protein product	"""XP-C repair complementing protein"", ""XP-C repair complementing complex 58 kDa"""	600062	"""RAD23 (S. cerevisiae) homolog B"""			7851894, 8168482	Standard	NM_002874		Approved	HHR23B, P58, HR23B	uc004bde.3	P54727	OTTHUMG00000020446	ENST00000358015.3:c.934C>G	9.37:g.110086287C>G	ENSP00000350708:p.Gln312Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWK8|G5E9P0|Q7Z5K8|Q8WUB0	Missense_Mutation	SNP	pfam_XPC-bd,pfam_Ubiquitin,pfam_UBA/transl_elong_EF1B_N,pfam_SUMO,superfamily_XPC-bd,superfamily_UBA-like,smart_Ubiquitin,smart_UBA/transl_elong_EF1B_N_euk,smart_STI1_HS-bd,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup,prints_Rad23,tigrfam_Rad23	p.Q312E	ENST00000358015.3	37	c.934	CCDS6769.1	9	.	.	.	.	.	.	.	.	.	.	C	13.10	2.135080	0.37728	.	.	ENSG00000119318	ENST00000358015;ENST00000416373	T;T	0.19669	2.15;2.13	5.51	5.51	0.81932	XPC-binding domain (3);Heat shock chaperonin-binding (1);	0.153973	0.64402	D	0.000016	T	0.18964	0.0455	N	0.17901	0.54	0.44123	D	0.996904	B;B;P	0.37370	0.007;0.226;0.592	B;B;P	0.44422	0.015;0.349;0.449	T	0.04333	-1.0959	10	0.28530	T	0.3	-17.0113	13.0514	0.58957	0.0:0.9263:0.0:0.0737	.	291;312;312	B7Z4W4;B4DEA3;P54727	.;.;RD23B_HUMAN	E	312;240	ENSP00000350708:Q312E;ENSP00000405623:Q240E	ENSP00000350708:Q312E	Q	+	1	0	RAD23B	109126108	1.000000	0.71417	0.999000	0.59377	0.786000	0.44442	3.214000	0.51161	2.747000	0.94245	0.650000	0.86243	CAA	RAD23B	-	pfam_XPC-bd,superfamily_XPC-bd,smart_STI1_HS-bd,prints_Rad23,tigrfam_Rad23	ENSG00000119318		0.413	RAD23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD23B	HGNC	protein_coding	OTTHUMT00000053548.1	91	0.00	0	C	NM_002874		110086287	110086287	+1	no_errors	ENST00000358015	ensembl	human	known	69_37n	missense	101	19.84	25	SNP	1.000	G
RAD23B	5887	genome.wustl.edu	37	9	110091887	110091887	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:110091887G>A	ENST00000358015.3	+	10	1531	c.1180G>A	c.(1180-1182)Gag>Aag	p.E394K	RAD23B_ENST00000416373.2_Missense_Mutation_p.E322K	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN	RAD23 homolog B (S. cerevisiae)	394	UBA 2. {ECO:0000255|PROSITE- ProRule:PRU00212}.				DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|XPC complex (GO:0071942)	damaged DNA binding (GO:0003684)|polyubiquitin binding (GO:0031593)|single-stranded DNA binding (GO:0003697)			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						TGAGAAGAATGAGAATTTGGC	0.353								Direct reversal of damage;Nucleotide excision repair (NER)																														dbGAP											0													87.0	88.0	88.0					9																	110091887		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6769.1, CCDS59138.1	9q31.2	2008-07-21	2001-11-28		ENSG00000119318	ENSG00000119318			9813	protein-coding gene	gene with protein product	"""XP-C repair complementing protein"", ""XP-C repair complementing complex 58 kDa"""	600062	"""RAD23 (S. cerevisiae) homolog B"""			7851894, 8168482	Standard	NM_002874		Approved	HHR23B, P58, HR23B	uc004bde.3	P54727	OTTHUMG00000020446	ENST00000358015.3:c.1180G>A	9.37:g.110091887G>A	ENSP00000350708:p.Glu394Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWK8|G5E9P0|Q7Z5K8|Q8WUB0	Missense_Mutation	SNP	pfam_XPC-bd,pfam_Ubiquitin,pfam_UBA/transl_elong_EF1B_N,pfam_SUMO,superfamily_XPC-bd,superfamily_UBA-like,smart_Ubiquitin,smart_UBA/transl_elong_EF1B_N_euk,smart_STI1_HS-bd,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup,prints_Rad23,tigrfam_Rad23	p.E394K	ENST00000358015.3	37	c.1180	CCDS6769.1	9	.	.	.	.	.	.	.	.	.	.	G	23.3	4.395429	0.83011	.	.	ENSG00000119318	ENST00000358015;ENST00000416373	T;T	0.25414	1.8;1.8	4.85	4.85	0.62838	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (2);Ubiquitin-associated/translation elongation factor EF1B, N-terminal (1);UBA-like (1);	0.000000	0.85682	D	0.000000	T	0.56062	0.1960	M	0.82193	2.58	0.80722	D	1	D;D	0.69078	0.997;0.993	D;D	0.79108	0.992;0.951	T	0.63216	-0.6687	10	0.66056	D	0.02	-4.9731	18.3185	0.90229	0.0:0.0:1.0:0.0	.	373;394	B7Z4W4;P54727	.;RD23B_HUMAN	K	394;322	ENSP00000350708:E394K;ENSP00000405623:E322K	ENSP00000350708:E394K	E	+	1	0	RAD23B	109131708	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.439000	0.97543	2.399000	0.81585	0.563000	0.77884	GAG	RAD23B	-	pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,prints_Rad23,tigrfam_Rad23	ENSG00000119318		0.353	RAD23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD23B	HGNC	protein_coding	OTTHUMT00000053548.1	77	0.00	0	G	NM_002874		110091887	110091887	+1	no_errors	ENST00000358015	ensembl	human	known	69_37n	missense	66	27.47	25	SNP	1.000	A
RAD50	10111	genome.wustl.edu	37	5	131940517	131940517	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:131940517G>A	ENST00000265335.6	+	16	2931	c.2544G>A	c.(2542-2544)ttG>ttA	p.L848L	RAD50_ENST00000378823.3_Silent_p.L709L			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	848					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGATTGAATTGAATCGTAAGC	0.313								Homologous recombination																														dbGAP											0													62.0	59.0	60.0					5																	131940517		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"""RAD50 (S. cerevisiae) homolog"""			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.2544G>A	5.37:g.131940517G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Silent	SNP	pfam_Rad50_Zn_hook,superfamily_Prefoldin,pfscan_Zn_hook_Rad50,tigrfam_Rad50	p.L848	ENST00000265335.6	37	c.2544	CCDS34233.1	5																																																																																			RAD50	-	tigrfam_Rad50	ENSG00000113522		0.313	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD50	HGNC	protein_coding	OTTHUMT00000132566.5	82	0.00	0	G	NM_005732		131940517	131940517	+1	no_errors	ENST00000265335	ensembl	human	known	69_37n	silent	47	28.79	19	SNP	1.000	A
RAD51D	5892	genome.wustl.edu	37	17	33446176	33446176	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:33446176G>A	ENST00000345365.6	-	2	353	c.98C>T	c.(97-99)tCt>tTt	p.S33F	RAD51L3-RFFL_ENST00000593039.1_Intron|RAD51D_ENST00000394589.4_Missense_Mutation_p.S33F|RAD51D_ENST00000590016.1_Missense_Mutation_p.S33F|RAD51D_ENST00000590380.1_5'UTR|RAD51D_ENST00000357906.3_Missense_Mutation_p.S33F|RAD51D_ENST00000335858.7_Missense_Mutation_p.S33F|RAD51D_ENST00000360276.3_Missense_Mutation_p.S33F|FNDC8_ENST00000158009.5_5'Flank|RAD51D_ENST00000460118.2_5'UTR	NM_002878.3	NP_002869.3	O75771	RA51D_HUMAN	RAD51 paralog D	33	Preferencially binds ssDNA.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|reciprocal meiotic recombination (GO:0007131)|strand invasion (GO:0042148)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|gamma-tubulin binding (GO:0043015)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CAGGTCTGCAGAAACCAGGTC	0.478								Direct reversal of damage																														dbGAP											0													69.0	70.0	69.0					17																	33446176		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF034956	CCDS11287.1, CCDS11288.1, CCDS45646.1	17q11	2014-09-17	2013-07-02	2011-07-01	ENSG00000185379	ENSG00000185379			9823	protein-coding gene	gene with protein product	"""recombination repair protein"", ""DNA repair protein RAD51 homolog 4"""	602954	"""RAD51 (S. cerevisiae)-like 3"", ""RAD51-like 3 (S. cerevisiae)"", ""RAD51 homolog D (S. cerevisiae)"""	RAD51L3		9570954	Standard	NM_001142571		Approved	R51H3, Trad, HsTRAD	uc010ctj.2	O75771	OTTHUMG00000132930	ENST00000345365.6:c.98C>T	17.37:g.33446176G>A	ENSP00000338790:p.Ser33Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DJU7|E1P637|O43537|O60355|O75196|O75847|O75848|O76073|O76085|O94908|Q9UFU5	Missense_Mutation	SNP	pfam_DNA_recomb/repair_Rad51_C,pfam_Circ_KaiC/RadA,smart_AAA+_ATPase,pfscan_DNA_recomb_RecA/RadB_ATP-bd	p.S33F	ENST00000345365.6	37	c.98	CCDS11287.1	17	.	.	.	.	.	.	.	.	.	.	G	23.7	4.445959	0.84101	.	.	ENSG00000185379	ENST00000345365;ENST00000394589;ENST00000335858;ENST00000360276;ENST00000345766;ENST00000418935;ENST00000415064;ENST00000357906	T;T;T;T;T	0.50001	0.93;0.93;2.42;1.62;0.76	5.13	4.14	0.48551	.	0.173219	0.53938	D	0.000058	T	0.51568	0.1682	L	0.53249	1.67	0.44149	D	0.996941	P;P;P	0.52577	0.954;0.911;0.93	P;P;P	0.55545	0.646;0.653;0.778	T	0.47649	-0.9101	10	0.10377	T	0.69	-0.3177	11.3659	0.49671	0.0:0.183:0.817:0.0	.	33;33;33	B4DJU7;O75771-3;O75771	.;.;RA51D_HUMAN	F	33;33;33;33;33;33;36;33	ENSP00000338790:S33F;ENSP00000378090:S33F;ENSP00000338408:S33F;ENSP00000353417:S33F;ENSP00000350581:S33F	ENSP00000338408:S33F	S	-	2	0	RAD51D	30470289	1.000000	0.71417	0.848000	0.33437	0.997000	0.91878	5.724000	0.68500	1.363000	0.46019	0.561000	0.74099	TCT	RAD51D	-	NULL	ENSG00000185379		0.478	RAD51D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD51D	HGNC	protein_coding	OTTHUMT00000256446.1	68	0.00	0	G	NM_002878		33446176	33446176	-1	no_errors	ENST00000590016	ensembl	human	known	69_37n	missense	24	31.43	11	SNP	0.994	A
RAD54B	25788	genome.wustl.edu	37	8	95419762	95419762	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:95419762G>C	ENST00000336148.5	-	5	810	c.686C>G	c.(685-687)tCt>tGt	p.S229C		NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	229					ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			GAAAGGGTTAGAGAAACATTT	0.423								Direct reversal of damage;Homologous recombination																														dbGAP											0													95.0	94.0	94.0					8																	95419762		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.686C>G	8.37:g.95419762G>C	ENSP00000336606:p.Ser229Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	F6WBS8	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S229C	ENST00000336148.5	37	c.686	CCDS6262.1	8	.	.	.	.	.	.	.	.	.	.	G	11.27	1.590333	0.28357	.	.	ENSG00000197275	ENST00000336148	D	0.89270	-2.49	6.02	4.15	0.48705	.	0.347909	0.33401	N	0.004954	T	0.81842	0.4908	L	0.29908	0.895	0.80722	D	1	B	0.13145	0.007	B	0.09377	0.004	T	0.78079	-0.2344	10	0.49607	T	0.09	-26.7644	10.9841	0.47513	0.076:0.2001:0.7239:0.0	.	229	Q9Y620	RA54B_HUMAN	C	229	ENSP00000336606:S229C	ENSP00000336606:S229C	S	-	2	0	RAD54B	95488938	1.000000	0.71417	0.999000	0.59377	0.733000	0.41908	1.938000	0.40203	1.555000	0.49500	0.650000	0.86243	TCT	RAD54B	-	NULL	ENSG00000197275		0.423	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD54B	HGNC	protein_coding	OTTHUMT00000257806.3	91	0.00	0	G	NM_012415		95419762	95419762	-1	no_errors	ENST00000336148	ensembl	human	known	69_37n	missense	44	58.10	61	SNP	0.970	C
RAD54L	8438	genome.wustl.edu	37	1	46743953	46743953	+	Nonstop_Mutation	SNP	G	G	T	rs201687621		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:46743953G>T	ENST00000371975.4	+	18	2917	c.2243G>T	c.(2242-2244)tGa>tTa	p.*748L	RAD54L_ENST00000442598.1_Nonstop_Mutation_p.*748L|LRRC41_ENST00000472710.1_5'Flank	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	0					chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		GGCCTCCGCTGATAACCAGCT	0.572								Direct reversal of damage;Homologous recombination																														dbGAP											0													18.0	19.0	19.0					1																	46743953		2203	4299	6502	-	-	-	SO:0001578	stop_lost	0			X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"""RAD54 (S.cerevisiae)-like"""			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.2243G>T	1.37:g.46743953G>T	ENSP00000361043:p.*748Leuext*1	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TE31|Q6IUY3	Nonstop_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,pfam_Rad54_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.*748L	ENST00000371975.4	37	c.2243	CCDS532.1	1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.087203	0.36855	.	.	ENSG00000085999	ENST00000442598;ENST00000371975;ENST00000535499	.	.	.	5.69	2.74	0.32292	.	.	.	.	.	.	.	.	.	.	.	0.20638	N	0.99988	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.4806	0.04587	0.2127:0.133:0.5174:0.1369	.	.	.	.	L	748;748;568	.	.	X	+	2	2	RAD54L	46516540	0.979000	0.34478	0.353000	0.25747	0.913000	0.54294	0.720000	0.25896	0.320000	0.23234	0.561000	0.74099	TGA	RAD54L	-	NULL	ENSG00000085999		0.572	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD54L	HGNC	protein_coding	OTTHUMT00000021272.1	25	0.00	0	G	NM_003579		46743953	46743953	+1	no_errors	ENST00000371975	ensembl	human	known	69_37n	nonstop	23	17.86	5	SNP	0.179	T
RALGAPB	57148	genome.wustl.edu	37	20	37117154	37117154	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:37117154G>C	ENST00000262879.6	+	2	363	c.79G>C	c.(79-81)Gag>Cag	p.E27Q	RALGAPB_ENST00000397042.3_Missense_Mutation_p.E27Q|RALGAPB_ENST00000397038.1_5'UTR|RALGAPB_ENST00000397040.1_Missense_Mutation_p.E27Q|RALGAPB_ENST00000537204.1_Missense_Mutation_p.E27Q			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	27					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CAGCTATCCAGAGAGCGTTGG	0.488																																						dbGAP											0													217.0	187.0	197.0					20																	37117154		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.79G>C	20.37:g.37117154G>C	ENSP00000262879:p.Glu27Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	superfamily_ARM-type_fold,pfscan_Rap_GAP	p.E27Q	ENST00000262879.6	37	c.79	CCDS13305.1	20	.	.	.	.	.	.	.	.	.	.	G	14.10	2.435685	0.43224	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000304939;ENST00000537204;ENST00000397040	.	.	.	5.44	5.44	0.79542	.	0.302038	0.36854	N	0.002372	T	0.55210	0.1906	L	0.36672	1.1	0.80722	D	1	B;B;B;B	0.16603	0.018;0.018;0.018;0.018	B;B;B;B	0.25759	0.043;0.063;0.063;0.063	T	0.49588	-0.8924	9	0.14252	T	0.57	.	19.6344	0.95724	0.0:0.0:1.0:0.0	.	27;27;27;27	B4E2E8;Q86X10-4;A2A2E9;Q86X10	.;.;.;RLGPB_HUMAN	Q	27	.	ENSP00000262879:E27Q	E	+	1	0	RALGAPB	36550568	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.413000	0.52686	2.709000	0.92574	0.637000	0.83480	GAG	RALGAPB	-	NULL	ENSG00000170471		0.488	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	RALGAPB	HGNC	protein_coding	OTTHUMT00000079191.1	151	0.66	1	G	NM_020336		37117154	37117154	+1	no_errors	ENST00000262879	ensembl	human	known	69_37n	missense	97	54.46	116	SNP	1.000	C
RALGAPB	57148	genome.wustl.edu	37	20	37154615	37154615	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:37154615G>C	ENST00000262879.6	+	13	2264	c.1980G>C	c.(1978-1980)ttG>ttC	p.L660F	RALGAPB_ENST00000397042.3_Missense_Mutation_p.L660F|RALGAPB_ENST00000397038.1_Missense_Mutation_p.L438F|RALGAPB_ENST00000397040.1_Missense_Mutation_p.L660F			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	660					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CCCTGAAGTTGAGACTTGTGA	0.353																																						dbGAP											0													109.0	110.0	110.0					20																	37154615		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.1980G>C	20.37:g.37154615G>C	ENSP00000262879:p.Leu660Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	superfamily_ARM-type_fold,pfscan_Rap_GAP	p.L660F	ENST00000262879.6	37	c.1980	CCDS13305.1	20	.	.	.	.	.	.	.	.	.	.	G	19.85	3.903576	0.72754	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000304939;ENST00000397038;ENST00000397040;ENST00000438490	T;T	0.65178	-0.14;-0.14	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.75391	0.3843	L	0.46157	1.445	0.80722	D	1	D;D;D;D	0.76494	0.997;0.997;0.999;0.997	D;D;D;D	0.83275	0.931;0.991;0.996;0.991	T	0.71724	-0.4506	10	0.38643	T	0.18	.	20.0832	0.97789	0.0:0.0:1.0:0.0	.	488;660;660;660	A2A2F0;Q86X10-4;A2A2E9;Q86X10	.;.;.;RLGPB_HUMAN	F	660;660;660;438;660;488	ENSP00000262879:L660F;ENSP00000380233:L660F	ENSP00000262879:L660F	L	+	3	2	RALGAPB	36588029	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.873000	0.39558	2.751000	0.94390	0.650000	0.86243	TTG	RALGAPB	-	superfamily_ARM-type_fold	ENSG00000170471		0.353	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	RALGAPB	HGNC	protein_coding	OTTHUMT00000079191.1	81	0.00	0	G	NM_020336		37154615	37154615	+1	no_errors	ENST00000262879	ensembl	human	known	69_37n	missense	89	19.09	21	SNP	1.000	C
RALGPS1	9649	genome.wustl.edu	37	9	129974506	129974506	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:129974506G>A	ENST00000259351.5	+	15	1611	c.1344G>A	c.(1342-1344)cgG>cgA	p.R448R	RALGPS1_ENST00000424082.2_Silent_p.R406R|RP13-225O21.2_ENST00000453199.1_RNA|RALGPS1_ENST00000373434.1_Silent_p.R406R	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	448	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.|Required for stimulation of nucleotide exchange by RALA.				intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ral GTPase activity (GO:0032852)|regulation of Ral protein signal transduction (GO:0032485)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ral guanyl-nucleotide exchange factor activity (GO:0008321)			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						AGGAAGGGCGGAAGCCTGCGG	0.592																																						dbGAP											0													45.0	43.0	43.0					9																	129974506		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB002349	CCDS35143.1, CCDS55344.1, CCDS55345.1, CCDS55346.1	9q33.3	2013-01-10			ENSG00000136828	ENSG00000136828		"""Pleckstrin homology (PH) domain containing"""	16851	protein-coding gene	gene with protein product		614444				9205841, 10747847	Standard	NM_001190728		Approved	RALGPS1A, RALGEF2, KIAA0351	uc004bqo.2	Q5JS13	OTTHUMG00000020696	ENST00000259351.5:c.1344G>A	9.37:g.129974506G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DR86|E9PBQ5|O15059|Q5JT60|Q5JT65|Q5JUG5|Q8N4S6|Q8N5H4|Q8WUV7|Q9NZ16	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.G44E	ENST00000259351.5	37	c.131	CCDS35143.1	9	.	.	.	.	.	.	.	.	.	.	G	8.389	0.839318	0.16891	.	.	ENSG00000136828	ENST00000438723	.	.	.	4.23	2.2	0.27929	.	.	.	.	.	T	0.56963	0.2021	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52366	-0.8585	4	.	.	.	.	8.8918	0.35439	0.2078:0.0:0.7922:0.0	.	.	.	.	E	44	.	.	G	+	2	0	RALGPS1	129014327	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	0.532000	0.23067	0.995000	0.38917	0.561000	0.74099	GGA	RALGPS1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000136828		0.592	RALGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RALGPS1	HGNC	protein_coding	OTTHUMT00000054133.1	42	0.00	0	G	NM_014636		129974506	129974506	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000438723	ensembl	human	known	69_37n	missense	38	32.14	18	SNP	1.000	A
RANBP2	5903	genome.wustl.edu	37	2	109368406	109368406	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:109368406C>T	ENST00000283195.6	+	12	1837	c.1711C>T	c.(1711-1713)Caa>Taa	p.Q571*		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	571					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)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ACATGGCCTTCAACCTGCTCT	0.343																																						dbGAP											0													129.0	155.0	146.0					2																	109368406		1509	2707	4216	-	-	-	SO:0001587	stop_gained	0			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.1711C>T	2.37:g.109368406C>T	ENSP00000283195:p.Gln571*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13074|Q15280|Q53TE2|Q59FH7	Nonsense_Mutation	SNP	pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR-1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom	p.Q571*	ENST00000283195.6	37	c.1711	CCDS2079.1	2	.	.	.	.	.	.	.	.	.	.	C	38	7.258507	0.98168	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	.	.	.	4.93	4.93	0.64822	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-16.5823	18.4965	0.90866	0.0:1.0:0.0:0.0	.	.	.	.	X	571	.	ENSP00000283195:Q571X	Q	+	1	0	RANBP2	108734838	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	6.402000	0.73260	2.420000	0.82092	0.650000	0.86243	CAA	RANBP2	-	NULL	ENSG00000153201		0.343	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP2	HGNC	protein_coding	OTTHUMT00000253594.1	259	0.00	0	C	NM_006267		109368406	109368406	+1	no_errors	ENST00000283195	ensembl	human	known	69_37n	nonsense	200	15.61	37	SNP	1.000	T
RANBP2	5903	genome.wustl.edu	37	2	109380363	109380363	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:109380363C>G	ENST00000283195.6	+	20	3494	c.3368C>G	c.(3367-3369)tCt>tGt	p.S1123C		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1123					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)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CAAAAGAATTCTGGTTTTCGG	0.398																																						dbGAP											0													63.0	67.0	66.0					2																	109380363		2203	4297	6500	-	-	-	SO:0001583	missense	0			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.3368C>G	2.37:g.109380363C>G	ENSP00000283195:p.Ser1123Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR-1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom	p.S1123C	ENST00000283195.6	37	c.3368	CCDS2079.1	2	.	.	.	.	.	.	.	.	.	.	C	9.004	0.980911	0.18812	.	.	ENSG00000153201	ENST00000283195	T	0.28454	1.61	5.62	3.79	0.43588	.	.	.	.	.	T	0.25121	0.0610	L	0.44542	1.39	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.18745	-1.0327	9	0.38643	T	0.18	-7.9629	7.7176	0.28712	0.0:0.7034:0.1365:0.1601	.	1123	P49792	RBP2_HUMAN	C	1123	ENSP00000283195:S1123C	ENSP00000283195:S1123C	S	+	2	0	RANBP2	108746795	0.025000	0.19082	0.987000	0.45799	0.329000	0.28539	1.847000	0.39299	0.695000	0.31675	0.557000	0.71058	TCT	RANBP2	-	NULL	ENSG00000153201		0.398	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP2	HGNC	protein_coding	OTTHUMT00000253594.1	16	0.00	0	C	NM_006267		109380363	109380363	+1	no_errors	ENST00000283195	ensembl	human	known	69_37n	missense	14	33.33	7	SNP	0.053	G
RANBP2	5903	genome.wustl.edu	37	2	109384012	109384012	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:109384012C>G	ENST00000283195.6	+	20	7143	c.7017C>G	c.(7015-7017)ctC>ctG	p.L2339L		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2339	RanBD1 3. {ECO:0000255|PROSITE- ProRule:PRU00164}.				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)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GGGCAAAACTCTACAGATATG	0.353																																						dbGAP											0													182.0	203.0	196.0					2																	109384012		2200	4295	6495	-	-	-	SO:0001819	synonymous_variant	0			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.7017C>G	2.37:g.109384012C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q13074|Q15280|Q53TE2|Q59FH7	Silent	SNP	pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR-1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom	p.L2339	ENST00000283195.6	37	c.7017	CCDS2079.1	2																																																																																			RANBP2	-	pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom	ENSG00000153201		0.353	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP2	HGNC	protein_coding	OTTHUMT00000253594.1	151	0.00	0	C	NM_006267		109384012	109384012	+1	no_errors	ENST00000283195	ensembl	human	known	69_37n	silent	123	14.58	21	SNP	0.980	G
RANBP6	26953	genome.wustl.edu	37	9	6015410	6015410	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:6015410C>T	ENST00000259569.5	-	1	208	c.198G>A	c.(196-198)gtG>gtA	p.V66V	RANBP6_ENST00000485372.1_Intron	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	66					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		CCATTTGTCTCACCTCATAAC	0.473																																						dbGAP											0													87.0	93.0	91.0					9																	6015410		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.198G>A	9.37:g.6015410C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T7X4|Q7Z3V2|Q96E78	Silent	SNP	pfam_HEAT,superfamily_ARM-type_fold	p.V66	ENST00000259569.5	37	c.198	CCDS6467.1	9																																																																																			RANBP6	-	superfamily_ARM-type_fold	ENSG00000137040		0.473	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP6	HGNC	protein_coding	OTTHUMT00000051650.1	65	0.00	0	C	NM_012416		6015410	6015410	-1	no_errors	ENST00000259569	ensembl	human	known	69_37n	silent	94	15.32	17	SNP	1.000	T
RANGRF	29098	genome.wustl.edu	37	17	8192698	8192698	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:8192698C>A	ENST00000226105.6	+	3	609	c.317C>A	c.(316-318)tCt>tAt	p.S106Y	RANGRF_ENST00000580434.1_Missense_Mutation_p.S106Y|SLC25A35_ENST00000581320.1_5'Flank|SLC25A35_ENST00000580340.1_3'UTR|SLC25A35_ENST00000380067.2_3'UTR|SLC25A35_ENST00000579192.1_Intron|RANGRF_ENST00000407006.4_Missense_Mutation_p.S106Y|SLC25A35_ENST00000396278.1_Intron|RANGRF_ENST00000439238.3_Missense_Mutation_p.S106Y	NM_016492.4	NP_057576.2	Q9HD47	MOG1_HUMAN	RAN guanine nucleotide release factor	106					ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein localization to cell surface (GO:2000010)|protein exit from endoplasmic reticulum (GO:0032527)|regulation of heart rate (GO:0002027)|regulation of membrane depolarization (GO:0003254)|regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900825)|regulation of membrane potential (GO:0042391)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	guanyl-nucleotide exchange factor activity (GO:0005085)|ion channel binding (GO:0044325)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)|sodium channel regulator activity (GO:0017080)			endometrium(1)	1						TGGGTCCTCTCTGGCAAGCAG	0.607																																						dbGAP											0													42.0	44.0	43.0					17																	8192698		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF151070	CCDS11137.1, CCDS54086.1, CCDS54087.1	17p13	2014-05-09				ENSG00000108961			17679	protein-coding gene	gene with protein product	"""MOG1 homolog (S. cerevisiae)"""	607954				11290418	Standard	NM_016492		Approved	MOG1, HSPC165, HSPC236, RANGNRF	uc002gkv.3	Q9HD47		ENST00000226105.6:c.317C>A	17.37:g.8192698C>A	ENSP00000226105:p.Ser106Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTR6|Q68DI3|Q9BR68|Q9HD48|Q9NRU9|Q9P001|Q9P0P2	Missense_Mutation	SNP	pfam_Mog1,superfamily_Mog1/PsbP/DUF1795_a/b/a-sand	p.S106Y	ENST00000226105.6	37	c.317	CCDS11137.1	17	.	.	.	.	.	.	.	.	.	.	C	12.64	1.999208	0.35226	.	.	ENSG00000108961	ENST00000226105;ENST00000407006;ENST00000439238	T;T;T	0.78364	-1.17;-1.17;-1.17	5.38	4.37	0.52481	Mog1/PsbP, alpha/beta/alpha sandwich (1);Mog1/PsbP/DUF1795, alpha/beta/alpha sandwich (1);	0.138297	0.47852	D	0.000203	T	0.82038	0.4950	M	0.64997	1.995	0.39700	D	0.97117	D;D;D	0.89917	1.0;0.99;0.992	D;D;D	0.70016	0.967;0.912;0.947	T	0.76790	-0.2829	10	0.08381	T	0.77	-12.6457	11.1611	0.48516	0.0:0.8001:0.1999:0.0	.	106;106;106	Q9HD47-3;Q9HD47-4;Q9HD47	.;.;MOG1_HUMAN	Y	106	ENSP00000226105:S106Y;ENSP00000383940:S106Y;ENSP00000413190:S106Y	ENSP00000226105:S106Y	S	+	2	0	RANGRF	8133423	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.213000	0.42844	2.793000	0.96121	0.655000	0.94253	TCT	RANGRF	-	pfam_Mog1,superfamily_Mog1/PsbP/DUF1795_a/b/a-sand	ENSG00000108961		0.607	RANGRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANGRF	HGNC	protein_coding	OTTHUMT00000442127.1	61	0.00	0	C	NM_016492		8192698	8192698	+1	no_errors	ENST00000226105	ensembl	human	known	69_37n	missense	52	20.00	13	SNP	1.000	A
RAP1GDS1	5910	genome.wustl.edu	37	4	99273631	99273631	+	Silent	SNP	T	T	C	rs561509613		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:99273631T>C	ENST00000408927.3	+	4	353	c.240T>C	c.(238-240)ttT>ttC	p.F80F	RAP1GDS1_ENST00000264572.7_Silent_p.F81F|RAP1GDS1_ENST00000453712.2_Silent_p.F81F|RAP1GDS1_ENST00000380158.4_Silent_p.F81F|RAP1GDS1_ENST00000512857.1_3'UTR|RAP1GDS1_ENST00000408900.3_Silent_p.F80F|RAP1GDS1_ENST00000339360.5_Silent_p.F81F	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	80					myosin filament assembly (GO:0031034)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of Rho GTPase activity (GO:0032321)|vascular smooth muscle contraction (GO:0014829)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		TTTCAGAGTTTATGCGAATTC	0.368			T	NUP98	T-ALL																																	dbGAP		Dom	yes		4	4q21-q25	5910	"""RAP1, GTP-GDP dissociation stimulator 1"""		L	0													65.0	63.0	64.0					4																	99273631		1857	4104	5961	-	-	-	SO:0001819	synonymous_variant	0				CCDS43253.1, CCDS43254.1, CCDS47105.1, CCDS47106.1, CCDS47107.1, CCDS47108.1	4q23-q25	2013-02-14			ENSG00000138698	ENSG00000138698		"""Armadillo repeat containing"""	9859	protein-coding gene	gene with protein product		179502				8262526, 17951244	Standard	NM_001100426		Approved	SmgGDS	uc003htw.4	P52306	OTTHUMG00000160987	ENST00000408927.3:c.240T>C	4.37:g.99273631T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	E9PH06|G5E9P9|Q499L7|Q4KMV2|Q4QQI8|Q9BUW9|Q9BUX6|Q9NYM2|Q9NZA8	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.Y101H	ENST00000408927.3	37	c.301	CCDS43253.1	4																																																																																			RAP1GDS1	-	NULL	ENSG00000138698		0.368	RAP1GDS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RAP1GDS1	HGNC	protein_coding	OTTHUMT00000363273.2	73	0.00	0	T	NM_001100426		99273631	99273631	+1	no_errors	ENST00000515187	ensembl	human	known	69_37n	missense	42	23.64	13	SNP	1.000	C
RAP1GDS1	5910	genome.wustl.edu	37	4	99355171	99355171	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:99355171G>C	ENST00000408927.3	+	13	1638	c.1525G>C	c.(1525-1527)Gaa>Caa	p.E509Q	RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.E418Q|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.E509Q|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.E461Q|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.E460Q|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.E510Q	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	509					myosin filament assembly (GO:0031034)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of Rho GTPase activity (GO:0032321)|vascular smooth muscle contraction (GO:0014829)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		AATGCAGAATGAAGCTCTTGT	0.348			T	NUP98	T-ALL																																	dbGAP		Dom	yes		4	4q21-q25	5910	"""RAP1, GTP-GDP dissociation stimulator 1"""		L	0													116.0	112.0	113.0					4																	99355171		1907	4125	6032	-	-	-	SO:0001583	missense	0				CCDS43253.1, CCDS43254.1, CCDS47105.1, CCDS47106.1, CCDS47107.1, CCDS47108.1	4q23-q25	2013-02-14			ENSG00000138698	ENSG00000138698		"""Armadillo repeat containing"""	9859	protein-coding gene	gene with protein product		179502				8262526, 17951244	Standard	NM_001100426		Approved	SmgGDS	uc003htw.4	P52306	OTTHUMG00000160987	ENST00000408927.3:c.1525G>C	4.37:g.99355171G>C	ENSP00000386153:p.Glu509Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PH06|G5E9P9|Q499L7|Q4KMV2|Q4QQI8|Q9BUW9|Q9BUX6|Q9NYM2|Q9NZA8	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.E510Q	ENST00000408927.3	37	c.1528	CCDS43253.1	4	.	.	.	.	.	.	.	.	.	.	G	27.3	4.819326	0.90873	.	.	ENSG00000138698	ENST00000380158;ENST00000264572;ENST00000408927;ENST00000453712;ENST00000408900;ENST00000339360	T;T;T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51;-0.51;-0.51	5.92	5.92	0.95590	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	D	0.83418	0.5250	L	0.61218	1.895	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.989;0.991;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.979;0.988;0.998;0.999;0.999	T	0.81686	-0.0820	10	0.46703	T	0.11	-17.252	20.3085	0.98641	0.0:0.0:1.0:0.0	.	418;460;461;509;510;509	E9PH06;P52306-2;Q499L7;P52306;Q4QQI8;G5E9P9	.;.;.;GDS1_HUMAN;.;.	Q	461;418;509;509;460;510	ENSP00000369503:E461Q;ENSP00000264572:E418Q;ENSP00000386153:E509Q;ENSP00000407157:E509Q;ENSP00000386223:E460Q;ENSP00000340454:E510Q	ENSP00000264572:E418Q	E	+	1	0	RAP1GDS1	99574194	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.826000	0.92034	2.797000	0.96272	0.555000	0.69702	GAA	RAP1GDS1	-	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo	ENSG00000138698		0.348	RAP1GDS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RAP1GDS1	HGNC	protein_coding	OTTHUMT00000363273.2	93	0.00	0	G	NM_001100426		99355171	99355171	+1	no_errors	ENST00000339360	ensembl	human	known	69_37n	missense	74	22.92	22	SNP	1.000	C
RAPGEF2	9693	genome.wustl.edu	37	4	160252648	160252648	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:160252648G>A	ENST00000264431.4	+	8	1469	c.1050G>A	c.(1048-1050)atG>atA	p.M350I		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	350	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		ATCCTGCAATGACTCGATTTT	0.308																																						dbGAP											0													67.0	64.0	65.0					4																	160252648		1817	4080	5897	-	-	-	SO:0001583	missense	0			AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.1050G>A	4.37:g.160252648G>A	ENSP00000264431:p.Met350Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DP27	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,pfam_PDZ,pfam_cNMP-bd_dom,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.M350I	ENST00000264431.4	37	c.1050	CCDS43277.1	4	.	.	.	.	.	.	.	.	.	.	G	23.1	4.370783	0.82573	.	.	ENSG00000109756	ENST00000264431	T	0.44881	0.91	5.09	5.09	0.68999	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.69015	0.3064	M	0.84326	2.69	0.80722	D	1	D	0.65815	0.995	D	0.77004	0.989	T	0.74253	-0.3725	10	0.87932	D	0	.	18.8712	0.92315	0.0:0.0:1.0:0.0	.	350	Q9Y4G8	RPGF2_HUMAN	I	350	ENSP00000264431:M350I	ENSP00000264431:M350I	M	+	3	0	RAPGEF2	160472098	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.823000	0.86660	2.535000	0.85469	0.467000	0.42956	ATG	RAPGEF2	-	pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N	ENSG00000109756		0.308	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAPGEF2	HGNC	protein_coding	OTTHUMT00000364980.2	66	0.00	0	G	NM_014247		160252648	160252648	+1	no_errors	ENST00000264431	ensembl	human	known	69_37n	missense	27	12.90	4	SNP	1.000	A
RAPGEF3	10411	genome.wustl.edu	37	12	48142249	48142249	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:48142249G>A	ENST00000449771.2	-	12	1319	c.1231C>T	c.(1231-1233)Cat>Tat	p.H411Y	RAPGEF3_ENST00000549151.1_Missense_Mutation_p.H369Y|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.H369Y|RAPGEF3_ENST00000395358.3_Missense_Mutation_p.H411Y|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.H369Y|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.H411Y|RAPGEF3_ENST00000405493.2_Missense_Mutation_p.H369Y			O95398	RPGF3_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	411	Interaction with PDE3B.|N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of stress fiber assembly (GO:0051496)|Rap protein signal transduction (GO:0032486)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|extracellular vesicular exosome (GO:0070062)|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)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		GTTGGGTCATGAGCACTGGAA	0.542																																						dbGAP											0													130.0	107.0	115.0					12																	48142249		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK092448	CCDS31784.1, CCDS41775.1	12q13.1	2006-04-12	2004-03-26		ENSG00000079337	ENSG00000079337			16629	protein-coding gene	gene with protein product	"""exchange protein directly activated by cAMP 1"""	606057	"""RAP guanine-nucleotide-exchange factor (GEF) 3"""			10777494, 9856955	Standard	NM_001098531		Approved	cAMP-GEFI, EPAC, bcm910	uc001rpz.4	O95398	OTTHUMG00000133667	ENST00000449771.2:c.1231C>T	12.37:g.48142249G>A	ENSP00000395708:p.His411Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2G5|E7EQC8|O95634|Q8WVN0	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_DEP_dom,smart_cNMP-bd_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.H411Y	ENST00000449771.2	37	c.1231	CCDS41775.1	12	.	.	.	.	.	.	.	.	.	.	G	13.54	2.269036	0.40095	.	.	ENSG00000079337	ENST00000405493;ENST00000449771;ENST00000541821;ENST00000549151;ENST00000171000;ENST00000389211;ENST00000389212;ENST00000397089;ENST00000548919;ENST00000395358	T;T;T;T;T;T;T	0.70282	-0.3;-0.31;-0.3;-0.3;-0.31;-0.47;-0.38	5.16	5.16	0.70880	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.181615	0.20354	U	0.093986	T	0.70228	0.3200	L	0.40543	1.245	0.32229	N	0.574212	P;D	0.56521	0.933;0.976	P;P	0.55577	0.745;0.779	T	0.66106	-0.6006	10	0.08179	T	0.78	.	14.5125	0.67797	0.0:0.0:1.0:0.0	.	423;411	B7Z5J6;O95398	.;RPGF3_HUMAN	Y	369;411;58;369;369;369;411;423;369;411	ENSP00000384521:H369Y;ENSP00000395708:H411Y;ENSP00000448619:H369Y;ENSP00000171000:H369Y;ENSP00000373864:H411Y;ENSP00000448480:H369Y;ENSP00000378764:H411Y	ENSP00000171000:H369Y	H	-	1	0	RAPGEF3	46428516	0.358000	0.24947	1.000000	0.80357	0.998000	0.95712	1.897000	0.39799	2.588000	0.87417	0.650000	0.86243	CAT	RAPGEF3	-	pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N	ENSG00000079337		0.542	RAPGEF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPGEF3	HGNC	protein_coding	OTTHUMT00000257848.1	72	0.00	0	G	NM_006105		48142249	48142249	-1	no_errors	ENST00000389212	ensembl	human	known	69_37n	missense	79	19.39	19	SNP	1.000	A
RAPH1	65059	genome.wustl.edu	37	2	204313535	204313535	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:204313535G>A	ENST00000319170.5	-	11	1737	c.1438C>T	c.(1438-1440)Caa>Taa	p.Q480*	RAPH1_ENST00000374488.2_Nonsense_Mutation_p.Q505*|RAPH1_ENST00000418114.1_Nonsense_Mutation_p.Q480*|RAPH1_ENST00000374489.2_Nonsense_Mutation_p.Q507*|RAPH1_ENST00000453034.1_Nonsense_Mutation_p.Q532*|RAPH1_ENST00000457812.1_Nonsense_Mutation_p.Q480*|RAPH1_ENST00000423104.1_Nonsense_Mutation_p.Q507*|RAPH1_ENST00000308091.4_Nonsense_Mutation_p.Q532*|RAPH1_ENST00000439222.1_Nonsense_Mutation_p.Q505*|RAPH1_ENST00000419464.1_Nonsense_Mutation_p.Q480*|RAPH1_ENST00000374493.3_Nonsense_Mutation_p.Q532*	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	480	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTGATATATTGAGATTTCTTC	0.373																																						dbGAP											0													128.0	120.0	123.0					2																	204313535		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"""Pleckstrin homology (PH) domain containing"""	14436	protein-coding gene	gene with protein product	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"""	609035	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"""	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.1438C>T	2.37:g.204313535G>A	ENSP00000316543:p.Gln480*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96Q37|Q9C0I2	Nonsense_Mutation	SNP	pfam_Ras-assoc,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ras-assoc,smart_Pleckstrin_homology,prints_Paxillin,pfscan_Pleckstrin_homology,pfscan_Ras-assoc	p.Q532*	ENST00000319170.5	37	c.1594	CCDS2359.1	2	.	.	.	.	.	.	.	.	.	.	G	35	5.491766	0.96339	.	.	ENSG00000173166	ENST00000457812;ENST00000319170;ENST00000374493;ENST00000374489;ENST00000374488;ENST00000308091;ENST00000439222;ENST00000419464;ENST00000423104;ENST00000453034;ENST00000432342;ENST00000418114;ENST00000413201	.	.	.	5.2	5.2	0.72013	.	0.000000	0.41396	D	0.000895	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-15.8366	18.7336	0.91746	0.0:0.0:1.0:0.0	.	.	.	.	X	480;480;532;507;505;532;505;480;507;532;505;480;507	.	ENSP00000311293:Q532X	Q	-	1	0	RAPH1	204021780	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.807000	0.99171	2.427000	0.82271	0.467000	0.42956	CAA	RAPH1	-	pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000173166		0.373	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPH1	HGNC	protein_coding	OTTHUMT00000256363.2	93	0.00	0	G	NM_025252		204313535	204313535	-1	no_errors	ENST00000374493	ensembl	human	known	69_37n	nonsense	97	13.39	15	SNP	1.000	A
RAPH1	65059	genome.wustl.edu	37	2	204326613	204326613	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:204326613G>A	ENST00000319170.5	-	5	1067	c.768C>T	c.(766-768)atC>atT	p.I256I	RAPH1_ENST00000374488.2_Silent_p.I281I|RAPH1_ENST00000418114.1_Silent_p.I256I|RAPH1_ENST00000374489.2_Silent_p.I283I|RAPH1_ENST00000453034.1_Silent_p.I308I|RAPH1_ENST00000457812.1_Silent_p.I256I|RAPH1_ENST00000423104.1_Silent_p.I283I|RAPH1_ENST00000308091.4_Silent_p.I308I|RAPH1_ENST00000439222.1_Silent_p.I281I|RAPH1_ENST00000419464.1_Silent_p.I256I|RAPH1_ENST00000374493.3_Silent_p.I308I	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	256					axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGGCAACTCTGATCTTCTCAG	0.353																																						dbGAP											0													117.0	112.0	114.0					2																	204326613		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"""Pleckstrin homology (PH) domain containing"""	14436	protein-coding gene	gene with protein product	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"""	609035	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"""	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.768C>T	2.37:g.204326613G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96Q37|Q9C0I2	Silent	SNP	pfam_Ras-assoc,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ras-assoc,smart_Pleckstrin_homology,prints_Paxillin,pfscan_Pleckstrin_homology,pfscan_Ras-assoc	p.I308	ENST00000319170.5	37	c.924	CCDS2359.1	2																																																																																			RAPH1	-	superfamily_Kinase-like_dom	ENSG00000173166		0.353	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPH1	HGNC	protein_coding	OTTHUMT00000256363.2	210	0.00	0	G	NM_025252		204326613	204326613	-1	no_errors	ENST00000374493	ensembl	human	known	69_37n	silent	211	16.60	42	SNP	1.000	A
RAPH1	65059	genome.wustl.edu	37	2	204354534	204354534	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:204354534C>T	ENST00000319170.5	-	4	804	c.505G>A	c.(505-507)Gag>Aag	p.E169K	RAPH1_ENST00000374488.2_Missense_Mutation_p.E169K|RAPH1_ENST00000418114.1_Missense_Mutation_p.E169K|RAPH1_ENST00000374489.2_Missense_Mutation_p.E169K|RAPH1_ENST00000453034.1_Missense_Mutation_p.E169K|RAPH1_ENST00000457812.1_Missense_Mutation_p.E169K|RAPH1_ENST00000423104.1_Missense_Mutation_p.E169K|RAPH1_ENST00000308091.4_Missense_Mutation_p.E169K|RAPH1_ENST00000439222.1_Missense_Mutation_p.E169K|RAPH1_ENST00000419464.1_Missense_Mutation_p.E169K|RAPH1_ENST00000374493.3_Missense_Mutation_p.E169K	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	169					axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGAGCAGCCTCATCCATACTC	0.453																																						dbGAP											0													143.0	131.0	135.0					2																	204354534		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"""Pleckstrin homology (PH) domain containing"""	14436	protein-coding gene	gene with protein product	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"""	609035	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"""	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.505G>A	2.37:g.204354534C>T	ENSP00000316543:p.Glu169Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96Q37|Q9C0I2	Missense_Mutation	SNP	pfam_Ras-assoc,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ras-assoc,smart_Pleckstrin_homology,prints_Paxillin,pfscan_Pleckstrin_homology,pfscan_Ras-assoc	p.E169K	ENST00000319170.5	37	c.505	CCDS2359.1	2	.	.	.	.	.	.	.	.	.	.	C	35	5.581450	0.96565	.	.	ENSG00000173166	ENST00000457812;ENST00000319170;ENST00000374493;ENST00000374489;ENST00000374488;ENST00000308091;ENST00000439222;ENST00000419464;ENST00000423104;ENST00000453034;ENST00000432342;ENST00000418114;ENST00000413201;ENST00000428637	T;T;T;T;T;T;T;T;T;T;T	0.62364	0.67;0.67;0.03;0.39;0.45;0.07;0.45;0.67;0.39;0.08;0.66	5.51	5.51	0.81932	.	0.000000	0.45867	D	0.000322	T	0.76428	0.3986	L	0.55481	1.735	0.80722	D	1	D;D;D	0.76494	0.999;0.993;0.999	D;D;D	0.80764	0.98;0.971;0.994	T	0.74990	-0.3475	10	0.44086	T	0.13	-24.3345	19.4235	0.94732	0.0:1.0:0.0:0.0	.	169;169;169	Q70E73-6;C9K0J5;Q70E73	.;.;RAPH1_HUMAN	K	169	ENSP00000392854:E169K;ENSP00000316543:E169K;ENSP00000363617:E169K;ENSP00000363613:E169K;ENSP00000363612:E169K;ENSP00000311293:E169K;ENSP00000411138:E169K;ENSP00000390578:E169K;ENSP00000397751:E169K;ENSP00000406662:E169K;ENSP00000396711:E169K	ENSP00000311293:E169K	E	-	1	0	RAPH1	204062779	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.607000	0.82883	2.564000	0.86499	0.650000	0.86243	GAG	RAPH1	-	NULL	ENSG00000173166		0.453	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPH1	HGNC	protein_coding	OTTHUMT00000256363.2	136	0.00	0	C	NM_025252		204354534	204354534	-1	no_errors	ENST00000374493	ensembl	human	known	69_37n	missense	120	16.08	23	SNP	1.000	T
RASAL1	8437	genome.wustl.edu	37	12	113544914	113544914	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:113544914C>G	ENST00000261729.5	-	16	1960	c.1645G>C	c.(1645-1647)Gat>Cat	p.D549H	RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000546530.1_Missense_Mutation_p.D550H|RASAL1_ENST00000548055.1_Missense_Mutation_p.D549H|RASAL1_ENST00000446861.3_Missense_Mutation_p.D549H			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	549					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)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						TCATCCCCATCCACATCCACC	0.612																																						dbGAP											0													87.0	75.0	79.0					12																	113544914		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"""Pleckstrin homology (PH) domain containing"""	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.1645G>C	12.37:g.113544914C>G	ENSP00000261729:p.Asp549His	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Missense_Mutation	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	p.D550H	ENST00000261729.5	37	c.1648	CCDS9165.1	12	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344638	0.61073	.	.	ENSG00000111344	ENST00000546530;ENST00000261729;ENST00000446861;ENST00000548055	T;T;T;T	0.19250	2.16;2.16;2.16;2.16	4.6	1.54	0.23209	Rho GTPase activation protein (1);Ras GTPase-activating protein (2);	0.493348	0.22038	N	0.065496	T	0.36524	0.0970	M	0.73598	2.24	0.28683	N	0.905007	P;D;D;B;B;D	0.64830	0.934;0.984;0.994;0.1;0.06;0.984	P;P;P;B;B;P	0.57620	0.672;0.824;0.743;0.073;0.022;0.824	T	0.23547	-1.0185	10	0.66056	D	0.02	.	9.6276	0.39761	0.1501:0.5594:0.2904:0.0	.	549;549;562;550;549;549	B4DG06;F8VRH9;Q59H24;F8VQX1;O95294;O95294-2	.;.;.;.;RASL1_HUMAN;.	H	550;549;549;549	ENSP00000450244:D550H;ENSP00000261729:D549H;ENSP00000395920:D549H;ENSP00000448510:D549H	ENSP00000261729:D549H	D	-	1	0	RASAL1	112029297	1.000000	0.71417	0.010000	0.14722	0.992000	0.81027	3.565000	0.53798	0.124000	0.18369	0.561000	0.74099	GAT	RASAL1	-	superfamily_Rho_GTPase_activation_prot,smart_RasGAP	ENSG00000111344		0.612	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RASAL1	HGNC	protein_coding	OTTHUMT00000405522.2	52	0.00	0	C	NM_004658		113544914	113544914	-1	no_errors	ENST00000546530	ensembl	human	known	69_37n	missense	48	16.95	10	SNP	0.521	G
RASD1	51655	genome.wustl.edu	37	17	17398810	17398810	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:17398810C>T	ENST00000225688.3	-	2	686	c.475G>A	c.(475-477)Gag>Aag	p.E159K	RASD1_ENST00000579152.1_3'UTR	NM_001199989.1|NM_016084.4	NP_001186918.1|NP_057168.1	Q9Y272	RASD1_HUMAN	RAS, dexamethasone-induced 1	159					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of transcription, DNA-templated (GO:0045892)|nitric oxide mediated signal transduction (GO:0007263)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4						TGCTCGATCTCGCGCTGGTCC	0.617																																						dbGAP											0													29.0	27.0	27.0					17																	17398810		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF069506	CCDS11185.1, CCDS58519.1	17p11.2	2014-05-09			ENSG00000108551	ENSG00000108551			15828	protein-coding gene	gene with protein product	"""ras-related protein"", ""dexamethasone-induced ras-related protein 1"", ""activator of G protein signaling"""	605550				10947988	Standard	NM_001199989		Approved	DEXRAS1, AGS1	uc002gri.3	Q9Y272	OTTHUMG00000059292	ENST00000225688.3:c.475G>A	17.37:g.17398810C>T	ENSP00000225688:p.Glu159Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R709|B4DFF4|Q9NYB4	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,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.E159K	ENST00000225688.3	37	c.475	CCDS11185.1	17	.	.	.	.	.	.	.	.	.	.	C	37	6.106698	0.97291	.	.	ENSG00000108551	ENST00000225688	T	0.78595	-1.19	5.05	5.05	0.67936	Small GTP-binding protein domain (1);	0.047538	0.85682	D	0.000000	D	0.85344	0.5675	M	0.72894	2.215	0.80722	D	1	P	0.48998	0.918	P	0.56700	0.804	D	0.87206	0.2244	10	0.72032	D	0.01	.	17.3754	0.87391	0.0:1.0:0.0:0.0	.	159	Q9Y272	RASD1_HUMAN	K	159	ENSP00000225688:E159K	ENSP00000225688:E159K	E	-	1	0	RASD1	17339535	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.819000	0.69243	2.328000	0.79073	0.655000	0.94253	GAG	RASD1	-	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000108551		0.617	RASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASD1	HGNC	protein_coding	OTTHUMT00000131668.1	14	0.00	0	C	NM_016084		17398810	17398810	-1	no_errors	ENST00000225688	ensembl	human	known	69_37n	missense	16	46.67	14	SNP	1.000	T
RASGEF1B	153020	genome.wustl.edu	37	4	82368682	82368682	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:82368682C>G	ENST00000264400.2	-	6	856	c.705G>C	c.(703-705)caG>caC	p.Q235H	RASGEF1B_ENST00000335927.7_Missense_Mutation_p.Q193H|RASGEF1B_ENST00000509081.1_Missense_Mutation_p.Q234H	NM_152545.1	NP_689758.1	Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	235	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	endosome (GO:0005768)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						AAGGGTCCTTCTGCACGAACG	0.398																																						dbGAP											0													86.0	81.0	83.0					4																	82368682		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK056257	CCDS34022.1, CCDS75151.1, CCDS75152.1	4q21.21	2013-09-24				ENSG00000138670			24881	protein-coding gene	gene with protein product		614532				12488504	Standard	XM_005262776		Approved	GPIG4, FLJ31695	uc003hmi.1	Q0VAM2		ENST00000264400.2:c.705G>C	4.37:g.82368682C>G	ENSP00000264400:p.Gln235His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VAM1|Q4W5L7|Q4W5M3|Q96MY8	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.Q235H	ENST00000264400.2	37	c.705	CCDS34022.1	4	.	.	.	.	.	.	.	.	.	.	C	3.247	-0.154036	0.06585	.	.	ENSG00000138670	ENST00000509081;ENST00000264400;ENST00000335927;ENST00000504863	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	4.93	4.09	0.47781	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.15782	0.0380	N	0.11756	0.17	0.80722	D	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.12156	0.007;0.007;0.006	T	0.07501	-1.0769	10	0.22706	T	0.39	.	8.6012	0.33745	0.0:0.7815:0.0:0.2185	.	193;234;235	Q0VAM2-2;Q0VAM2-3;Q0VAM2	.;.;RGF1B_HUMAN	H	234;235;193;80	ENSP00000425393:Q234H;ENSP00000264400:Q235H;ENSP00000338437:Q193H;ENSP00000426929:Q80H	ENSP00000264400:Q235H	Q	-	3	2	RASGEF1B	82587706	1.000000	0.71417	1.000000	0.80357	0.678000	0.39670	1.482000	0.35486	1.304000	0.44892	-0.150000	0.13652	CAG	RASGEF1B	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25	ENSG00000138670		0.398	RASGEF1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RASGEF1B	HGNC	protein_coding	OTTHUMT00000362830.1	91	0.00	0	C	NM_152545		82368682	82368682	-1	no_errors	ENST00000264400	ensembl	human	known	69_37n	missense	68	22.73	20	SNP	1.000	G
RASGEF1C	255426	genome.wustl.edu	37	5	179529117	179529117	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:179529117C>T	ENST00000393371.2	-	12	1626	c.1330G>A	c.(1330-1332)Gag>Aag	p.E444K	RASGEF1C_ENST00000361132.4_Missense_Mutation_p.E444K|RASGEF1C_ENST00000522500.1_Missense_Mutation_p.E293K			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	444	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTGGGCTCTCACTTTCGTAA	0.433																																						dbGAP											0													102.0	91.0	95.0					5																	179529117		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK093160	CCDS4452.1	5q35.3	2005-08-16			ENSG00000146090	ENSG00000146090			27400	protein-coding gene	gene with protein product						12477932	Standard	XM_006714839		Approved	FLJ35841	uc003mlr.3	Q8N431	OTTHUMG00000130914	ENST00000393371.2:c.1330G>A	5.37:g.179529117C>T	ENSP00000377037:p.Glu444Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DWQ7|Q7Z4T0|Q8NA49	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.E444K	ENST00000393371.2	37	c.1330	CCDS4452.1	5	.	.	.	.	.	.	.	.	.	.	C	29.7	5.031050	0.93575	.	.	ENSG00000146090	ENST00000361132;ENST00000393371;ENST00000522500	T;T;T	0.59638	0.25;0.25;0.25	4.02	4.02	0.46733	Guanine-nucleotide dissociation stimulator CDC25 (2);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.80481	0.4631	M	0.93550	3.43	0.80722	D	1	D	0.63046	0.992	D	0.68192	0.956	D	0.86159	0.1592	10	0.87932	D	0	.	14.0354	0.64642	0.0:1.0:0.0:0.0	.	444	Q8N431	RGF1C_HUMAN	K	444;444;293	ENSP00000354963:E444K;ENSP00000377037:E444K;ENSP00000429114:E293K	ENSP00000354963:E444K	E	-	1	0	RASGEF1C	179461723	1.000000	0.71417	0.994000	0.49952	0.988000	0.76386	6.961000	0.76042	1.966000	0.57179	0.462000	0.41574	GAG	RASGEF1C	-	superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25	ENSG00000146090		0.433	RASGEF1C-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RASGEF1C	HGNC	protein_coding	OTTHUMT00000253506.2	142	0.00	0	C	NM_175062		179529117	179529117	-1	no_errors	ENST00000361132	ensembl	human	known	69_37n	missense	89	28.23	35	SNP	1.000	T
RASGRF1	5923	genome.wustl.edu	37	15	79282575	79282575	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:79282575C>T	ENST00000419573.3	-	23	3494	c.3220G>A	c.(3220-3222)Gaa>Aaa	p.E1074K	RASGRF1_ENST00000394745.3_Missense_Mutation_p.E290K|RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.E1058K	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	1074	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GGGGTCCTTTCATTCTTTTCC	0.483																																						dbGAP											0													181.0	151.0	161.0					15																	79282575		2196	4293	6489	-	-	-	SO:0001583	missense	0			M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.3220G>A	15.37:g.79282575C>T	ENSP00000405963:p.Glu1074Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	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.E1074K	ENST00000419573.3	37	c.3220	CCDS10309.1	15	.	.	.	.	.	.	.	.	.	.	C	29.3	4.990920	0.93106	.	.	ENSG00000058335	ENST00000419573;ENST00000394741;ENST00000394745	T;T	0.30182	1.54;1.54	4.53	4.53	0.55603	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.128481	0.51477	D	0.000094	T	0.43033	0.1229	L	0.39467	1.215	0.80722	D	1	D;D;B;P	0.89917	1.0;0.985;0.386;0.666	D;P;P;P	0.91635	0.999;0.897;0.489;0.472	T	0.10706	-1.0618	10	0.13108	T	0.6	.	14.7861	0.69806	0.0:1.0:0.0:0.0	.	470;1058;1076;1058	B7Z6Z6;Q8IUU5;Q13972;F8VPA5	.;.;RGRF1_HUMAN;.	K	1074;1058;290	ENSP00000405963:E1074K;ENSP00000378228:E290K	ENSP00000378224:E1058K	E	-	1	0	RASGRF1	77069630	1.000000	0.71417	0.519000	0.27824	0.928000	0.56348	7.441000	0.80485	2.327000	0.79052	0.561000	0.74099	GAA	RASGRF1	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25	ENSG00000058335		0.483	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	RASGRF1	HGNC	protein_coding	OTTHUMT00000291371.3	129	0.00	0	C	NM_002891		79282575	79282575	-1	no_errors	ENST00000419573	ensembl	human	known	69_37n	missense	104	25.18	35	SNP	1.000	T
RASGRF1	5923	genome.wustl.edu	37	15	79296384	79296384	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:79296384G>A	ENST00000419573.3	-	16	2531	c.2257C>T	c.(2257-2259)Cgc>Tgc	p.R753C	RASGRF1_ENST00000394745.3_5'UTR|RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.R737C	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	753	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TTCCGCCGGCGGCTCGGTGAC	0.632																																						dbGAP											0													57.0	57.0	57.0					15																	79296384		2196	4293	6489	-	-	-	SO:0001583	missense	0			M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.2257C>T	15.37:g.79296384G>A	ENSP00000405963:p.Arg753Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	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.R753C	ENST00000419573.3	37	c.2257	CCDS10309.1	15	.	.	.	.	.	.	.	.	.	.	G	18.96	3.733982	0.69189	.	.	ENSG00000058335	ENST00000419573;ENST00000394741	T	0.55413	0.52	4.35	3.35	0.38373	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.64000	0.2559	L	0.51422	1.61	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.997;0.973;0.973;0.973;0.954	T	0.66697	-0.5858	10	0.87932	D	0	.	11.1384	0.48388	0.0:0.0:0.8041:0.1959	.	149;753;737;753;737	B7Z6Z6;A8K270;Q8IUU5;Q13972;F8VPA5	.;.;.;RGRF1_HUMAN;.	C	753;737	ENSP00000405963:R753C	ENSP00000378224:R737C	R	-	1	0	RASGRF1	77083439	1.000000	0.71417	0.992000	0.48379	0.717000	0.41224	5.289000	0.65656	2.261000	0.74972	0.491000	0.48974	CGC	RASGRF1	-	pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N	ENSG00000058335		0.632	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	RASGRF1	HGNC	protein_coding	OTTHUMT00000291371.3	29	0.00	0	G	NM_002891		79296384	79296384	-1	no_errors	ENST00000419573	ensembl	human	known	69_37n	missense	36	26.53	13	SNP	1.000	A
RASGRF1	5923	genome.wustl.edu	37	15	79312447	79312447	+	Splice_Site	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:79312447C>G	ENST00000419573.3	-	11	1817		c.e11-1		RASGRF1_ENST00000560334.1_Splice_Site|RASGRF1_ENST00000558480.2_Splice_Site	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1						activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TGACTCCATTCTGAAAAAGAG	0.502																																						dbGAP											0													108.0	100.0	103.0					15																	79312447		2196	4293	6489	-	-	-	SO:0001630	splice_region_variant	0			M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.1543-1G>C	15.37:g.79312447C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	F8VPA5|H0YKF2|J3KQP9|Q16027	Splice_Site	SNP	-	e11-1	ENST00000419573.3	37	c.1543-1	CCDS10309.1	15	.	.	.	.	.	.	.	.	.	.	C	10.37	1.332270	0.24167	.	.	ENSG00000058335	ENST00000419573;ENST00000394741	.	.	.	4.05	4.05	0.47172	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1462	0.65351	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RASGRF1	77099502	1.000000	0.71417	1.000000	0.80357	0.040000	0.13550	7.375000	0.79646	2.252000	0.74401	0.555000	0.69702	.	RASGRF1	-	-	ENSG00000058335		0.502	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	RASGRF1	HGNC	protein_coding	OTTHUMT00000291371.3	92	0.00	0	C	NM_002891	Intron	79312447	79312447	-1	no_errors	ENST00000419573	ensembl	human	known	69_37n	splice_site	74	30.19	32	SNP	1.000	G
RASGRF1	5923	genome.wustl.edu	37	15	79320179	79320179	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:79320179C>T	ENST00000419573.3	-	9	1559	c.1285G>A	c.(1285-1287)Gag>Aag	p.E429K	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.E429K	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	429					activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TTCTCCGTCTCACTTACTTCA	0.542																																						dbGAP											0													231.0	187.0	202.0					15																	79320179		2196	4293	6489	-	-	-	SO:0001583	missense	0			M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.1285G>A	15.37:g.79320179C>T	ENSP00000405963:p.Glu429Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	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.E429K	ENST00000419573.3	37	c.1285	CCDS10309.1	15	.	.	.	.	.	.	.	.	.	.	C	28.3	4.905374	0.92107	.	.	ENSG00000058335	ENST00000419573;ENST00000394741	T	0.67523	-0.27	4.09	4.09	0.47781	Dbl homology (DH) domain (2);	0.061993	0.64402	D	0.000005	T	0.76615	0.4012	M	0.65498	2.005	0.80722	D	1	D;D;D;P	0.61080	0.989;0.97;0.97;0.951	P;P;P;P	0.61328	0.887;0.83;0.83;0.864	T	0.77752	-0.2470	10	0.45353	T	0.12	.	13.9228	0.63942	0.0:1.0:0.0:0.0	.	429;429;429;429	A8K270;Q8IUU5;Q13972;F8VPA5	.;.;RGRF1_HUMAN;.	K	429	ENSP00000405963:E429K	ENSP00000378224:E429K	E	-	1	0	RASGRF1	77107234	1.000000	0.71417	0.915000	0.36163	0.857000	0.48899	7.410000	0.80065	2.118000	0.64928	0.479000	0.44913	GAG	RASGRF1	-	superfamily_DH-domain	ENSG00000058335		0.542	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	RASGRF1	HGNC	protein_coding	OTTHUMT00000291371.3	62	0.00	0	C	NM_002891		79320179	79320179	-1	no_errors	ENST00000419573	ensembl	human	known	69_37n	missense	47	42.68	35	SNP	1.000	T
RASGRF2	5924	genome.wustl.edu	37	5	80369113	80369113	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:80369113G>C	ENST00000265080.4	+	5	796	c.729G>C	c.(727-729)aaG>aaC	p.K243N	RASGRF2_ENST00000502677.1_3'UTR	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	243	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				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)		GTATGAGGAAGAGAAACCAGA	0.502																																						dbGAP											0													165.0	142.0	150.0					5																	80369113		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.729G>C	5.37:g.80369113G>C	ENSP00000265080:p.Lys243Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EG89|Q9UK56	Missense_Mutation	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.K243N	ENST00000265080.4	37	c.729	CCDS4052.1	5	.	.	.	.	.	.	.	.	.	.	G	19.35	3.810990	0.70797	.	.	ENSG00000113319	ENST00000265080	T	0.72282	-0.64	5.14	4.25	0.50352	Dbl homology (DH) domain (3);	0.190086	0.53938	N	0.000045	T	0.81327	0.4799	M	0.77313	2.365	0.48087	D	0.999587	D;D	0.76494	0.998;0.999	D;D	0.71656	0.974;0.926	T	0.82675	-0.0340	10	0.87932	D	0	.	9.3205	0.37962	0.2158:0.0:0.7842:0.0	.	243;243	D6RAS9;O14827	.;RGRF2_HUMAN	N	243	ENSP00000265080:K243N	ENSP00000265080:K243N	K	+	3	2	RASGRF2	80404869	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	2.442000	0.44873	2.542000	0.85734	0.297000	0.19635	AAG	RASGRF2	-	superfamily_DH-domain,pfscan_DH-domain	ENSG00000113319		0.502	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASGRF2	HGNC	protein_coding	OTTHUMT00000239215.2	120	0.00	0	G	NM_006909		80369113	80369113	+1	no_errors	ENST00000265080	ensembl	human	known	69_37n	missense	92	22.03	26	SNP	1.000	C
RASGRP1	10125	genome.wustl.edu	37	15	38811530	38811530	+	Silent	SNP	C	C	T	rs368259294		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:38811530C>T	ENST00000310803.5	-	4	546	c.369G>A	c.(367-369)ctG>ctA	p.L123L	RASGRP1_ENST00000450598.2_Silent_p.L123L|RASGRP1_ENST00000561180.1_Silent_p.L174L|RASGRP1_ENST00000558164.1_Silent_p.L123L|RASGRP1_ENST00000559830.1_Silent_p.L123L|RASGRP1_ENST00000539159.1_Silent_p.L75L	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	123	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				activation of Rho GTPase activity (GO:0032862)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)|secretory granule localization (GO:0032252)|signal transduction (GO:0007165)|vesicle transport along microtubule (GO:0047496)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		AACAGATCTTCAGGCAAAGTC	0.408																																						dbGAP											0													113.0	110.0	111.0					15																	38811530		1831	4083	5914	-	-	-	SO:0001819	synonymous_variant	0			AF106071	CCDS45221.1, CCDS45222.1	15q15	2013-01-10				ENSG00000172575		"""EF-hand domain containing"""	9878	protein-coding gene	gene with protein product		603962				10087292, 9789079	Standard	NM_005739		Approved	CalDAG-GEFII, RASGRP	uc001zke.4	O95267		ENST00000310803.5:c.369G>A	15.37:g.38811530C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q56CZ0|Q58G75|Q59HB1|Q5I3A8|Q6GV31|Q6NX39|Q7LDG6|Q9UI94|Q9UNN9	Silent	SNP	pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,prints_DAG/PE-bd,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.L123	ENST00000310803.5	37	c.369	CCDS45222.1	15																																																																																			RASGRP1	-	superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N	ENSG00000172575		0.408	RASGRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASGRP1	HGNC	protein_coding	OTTHUMT00000418223.1	60	0.00	0	C	NM_005739		38811530	38811530	-1	no_errors	ENST00000310803	ensembl	human	known	69_37n	silent	47	17.54	10	SNP	1.000	T
RASGRP2	10235	genome.wustl.edu	37	11	64496381	64496381	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:64496381G>A	ENST00000354024.3	-	15	1977	c.1725C>T	c.(1723-1725)ttC>ttT	p.F575F	RASGRP2_ENST00000394432.3_Silent_p.F575F|RASGRP2_ENST00000377497.3_Silent_p.F575F|RASGRP2_ENST00000377494.1_Silent_p.F575F	NM_153819.1	NP_722541.1	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	575					blood coagulation (GO:0007596)|cellular response to calcium ion (GO:0071277)|platelet activation (GO:0030168)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GAGAGAAGCTGAAGGCGCGGT	0.642																																						dbGAP											0													61.0	52.0	55.0					11																	64496381		2201	4297	6498	-	-	-	SO:0001819	synonymous_variant	0			U78170	CCDS31598.1	11q13	2014-09-17			ENSG00000068831	ENSG00000068831		"""EF-hand domain containing"""	9879	protein-coding gene	gene with protein product		605577				9789079	Standard	NM_001098670		Approved	CALDAG-GEFI	uc009ypv.3	Q7LDG7	OTTHUMG00000045420	ENST00000354024.3:c.1725C>T	11.37:g.64496381G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDC7|O00538|Q9UL65	Silent	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_Ca-bd,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	p.F575	ENST00000354024.3	37	c.1725	CCDS31598.1	11																																																																																			RASGRP2	-	NULL	ENSG00000068831		0.642	RASGRP2-002	NOVEL	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	RASGRP2	HGNC	protein_coding	OTTHUMT00000142062.1	49	0.00	0	G	NM_153819		64496381	64496381	-1	no_errors	ENST00000377494	ensembl	human	known	69_37n	silent	76	26.92	28	SNP	1.000	A
RASL12	51285	genome.wustl.edu	37	15	65351707	65351707	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:65351707C>T	ENST00000220062.4	-	3	486	c.210G>A	c.(208-210)ctG>ctA	p.L70L	RASL12_ENST00000421977.3_Silent_p.L51L|RASL12_ENST00000434605.2_Silent_p.L59L	NM_016563.2	NP_057647.1	Q9NYN1	RASLC_HUMAN	RAS-like, family 12	70					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)			lung(1)|ovary(1)|skin(1)|urinary_tract(1)	4						CCATGACCCTCAGGTGGACAG	0.547																																						dbGAP											0													188.0	145.0	159.0					15																	65351707		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			AF233588	CCDS10200.1	15q11.2-q22.33	2014-05-09			ENSG00000103710	ENSG00000103710			30289	protein-coding gene	gene with protein product	"""Ras family member Ris"""					12107412	Standard	NM_016563		Approved	RIS	uc002aoi.1	Q9NYN1	OTTHUMG00000133115	ENST00000220062.4:c.210G>A	15.37:g.65351707C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RC29|B4DJW2|B4DU82	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,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.L70	ENST00000220062.4	37	c.210	CCDS10200.1	15																																																																																			RASL12	-	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	ENSG00000103710		0.547	RASL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASL12	HGNC	protein_coding	OTTHUMT00000256782.2	80	0.00	0	C	NM_016563		65351707	65351707	-1	no_errors	ENST00000220062	ensembl	human	known	69_37n	silent	76	13.64	12	SNP	1.000	T
RASSF2	9770	genome.wustl.edu	37	20	4768401	4768401	+	Splice_Site	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:4768401C>G	ENST00000379400.3	-	10	887		c.e10-1		RASSF2_ENST00000379376.2_Splice_Site|RASSF2_ENST00000478553.1_Intron	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2						bone remodeling (GO:0046849)|cell cycle (GO:0007049)|epidermal growth factor receptor signaling pathway via I-kappaB kinase/NF-kappaB cascade (GO:0038168)|homeostasis of number of cells (GO:0048872)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|ossification (GO:0001503)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						TTCTGTTTCTCTGCAACCACA	0.532																																					Melanoma(158;1891 3343 50738)	dbGAP											0													114.0	98.0	103.0					20																	4768401		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			D79990	CCDS13083.1	20p13	2011-08-12	2008-02-22		ENSG00000101265	ENSG00000101265			9883	protein-coding gene	gene with protein product	"""centromere protein 34"""	609492				8724849, 15806169	Standard	NM_014737		Approved	KIAA0168, CENP-34	uc002wld.3	P50749	OTTHUMG00000031790	ENST00000379400.3:c.692-1G>C	20.37:g.4768401C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NIX9|A8K5Z3|Q17S06|Q53HD0|Q6AHZ2|Q8IZA5	Splice_Site	SNP	-	e8-1	ENST00000379400.3	37	c.692-1	CCDS13083.1	20	.	.	.	.	.	.	.	.	.	.	C	22.6	4.308806	0.81247	.	.	ENSG00000101265	ENST00000379400;ENST00000379376	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9201	0.88963	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RASSF2	4716401	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.247000	0.78257	2.815000	0.96918	0.561000	0.74099	.	RASSF2	-	-	ENSG00000101265		0.532	RASSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASSF2	HGNC	protein_coding	OTTHUMT00000077828.1	130	0.00	0	C	NM_014737	Intron	4768401	4768401	-1	no_errors	ENST00000379376	ensembl	human	known	69_37n	splice_site	138	11.54	18	SNP	1.000	G
RASSF4	83937	genome.wustl.edu	37	10	45478085	45478085	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:45478085G>A	ENST00000340258.5	+	4	368	c.255G>A	c.(253-255)tgG>tgA	p.W85*	RASSF4_ENST00000374417.2_Nonsense_Mutation_p.W85*|RASSF4_ENST00000334940.6_Nonsense_Mutation_p.W67*|RASSF4_ENST00000472561.1_3'UTR	NM_032023.3	NP_114412.2	Q8WYP3	RIN2_HUMAN	Ras association (RalGDS/AF-6) domain family member 4	621					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						CCACCTCATGGATGCCCAGAC	0.652																																						dbGAP											0													76.0	74.0	75.0					10																	45478085		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC032593	CCDS7208.1	10q11.1	2008-02-22	2008-02-22		ENSG00000107551	ENSG00000107551			20793	protein-coding gene	gene with protein product		610559					Standard	NM_032023		Approved	AD037, MGC44914	uc001jbo.3	Q9H2L5	OTTHUMG00000018060	ENST00000340258.5:c.255G>A	10.37:g.45478085G>A	ENSP00000339692:p.Trp85*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q00425|Q5TFT8|Q9BQL3|Q9H071	Nonsense_Mutation	SNP	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH	p.W67*	ENST00000340258.5	37	c.201	CCDS7208.1	10	.	.	.	.	.	.	.	.	.	.	G	19.80	3.895606	0.72639	.	.	ENSG00000107551	ENST00000334940;ENST00000374417;ENST00000374414;ENST00000340258;ENST00000427758;ENST00000428466;ENST00000374411	.	.	.	5.25	5.25	0.73442	.	0.324717	0.35235	N	0.003351	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-21.0558	14.2009	0.65705	0.0:0.0:1.0:0.0	.	.	.	.	X	67;85;85;85;85;78;176	.	ENSP00000334543:W67X	W	+	3	0	RASSF4	44798091	1.000000	0.71417	0.694000	0.30210	0.054000	0.15201	4.077000	0.57598	2.732000	0.93576	0.655000	0.94253	TGG	RASSF4	-	NULL	ENSG00000107551		0.652	RASSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASSF4	HGNC	protein_coding	OTTHUMT00000047745.2	39	0.00	0	G	NM_032023		45478085	45478085	+1	no_errors	ENST00000334940	ensembl	human	known	69_37n	nonsense	30	16.67	6	SNP	0.864	A
RB1	5925	genome.wustl.edu	37	13	49039421	49039421	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr13:49039421G>C	ENST00000267163.4	+	23	2544	c.2406G>C	c.(2404-2406)ggG>ggC	p.G802G		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	802	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.				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.?(11)|p.L797fs*1(1)		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)"""	TTCCTGGAGGGAACATCTATA	0.423		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)																												dbGAP	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	27	Whole gene deletion(15)|Unknown(11)|Deletion - Frameshift(1)	bone(11)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|lung(1)|ovary(1)|liver(1)											109.0	111.0	110.0					13																	49039421		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	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.2406G>C	13.37:g.49039421G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5E3|P78499|Q5VW46|Q8IZL4	Silent	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.G802	ENST00000267163.4	37	c.2406	CCDS31973.1	13																																																																																			RB1	-	pfam_Rb_C	ENSG00000139687		0.423	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	HGNC	protein_coding	OTTHUMT00000044884.1	160	0.00	0	G			49039421	49039421	+1	no_errors	ENST00000267163	ensembl	human	known	69_37n	silent	113	23.13	34	SNP	0.979	C
RBBP6	5930	genome.wustl.edu	37	16	24574557	24574557	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:24574557G>T	ENST00000319715.4	+	11	1759	c.1327G>T	c.(1327-1329)Gca>Tca	p.A443S	RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Missense_Mutation_p.A443S	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	443					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		TGCAGCTCTTGCATCAGAGCA	0.313																																						dbGAP											0													77.0	85.0	82.0					16																	24574557		2178	4289	6467	-	-	-	SO:0001583	missense	0				CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.1327G>T	16.37:g.24574557G>T	ENSP00000317872:p.Ala443Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	pfam_DWNN_domain,pfam_Ubox_domain,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_CCHC	p.A443S	ENST00000319715.4	37	c.1327	CCDS10621.1	16	.	.	.	.	.	.	.	.	.	.	G	15.75	2.926445	0.52759	.	.	ENSG00000122257	ENST00000319715;ENST00000348022	T;T	0.14266	2.52;2.52	5.75	4.78	0.61160	.	0.242049	0.28630	N	0.014669	T	0.08179	0.0204	N	0.08118	0	0.24034	N	0.996103	B;B	0.25904	0.137;0.084	B;B	0.31614	0.133;0.063	T	0.36335	-0.9752	10	0.15952	T	0.53	-12.2959	13.5213	0.61569	0.0733:0.0:0.9267:0.0	.	443;443	Q7Z6E9-2;Q7Z6E9	.;RBBP6_HUMAN	S	443	ENSP00000317872:A443S;ENSP00000316291:A443S	ENSP00000317872:A443S	A	+	1	0	RBBP6	24482058	0.992000	0.36948	0.999000	0.59377	0.977000	0.68977	4.408000	0.59761	1.398000	0.46701	0.563000	0.77884	GCA	RBBP6	-	NULL	ENSG00000122257		0.313	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBBP6	HGNC	protein_coding	OTTHUMT00000214067.2	60	0.00	0	G	NM_006910		24574557	24574557	+1	no_errors	ENST00000319715	ensembl	human	known	69_37n	missense	37	21.28	10	SNP	0.991	T
RBL1	5933	genome.wustl.edu	37	20	35695166	35695166	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:35695166G>C	ENST00000373664.3	-	6	873	c.807C>G	c.(805-807)caC>caG	p.H269Q	RBL1_ENST00000344359.3_Missense_Mutation_p.H269Q	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	269					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)				GCTTAAAGTAGTGCTCCTTTA	0.393																																						dbGAP											0													117.0	116.0	117.0					20																	35695166		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.807C>G	20.37:g.35695166G>C	ENSP00000362768:p.His269Gln	Somatic		WXS	Illumina GAIIx	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.H269Q	ENST00000373664.3	37	c.807	CCDS13289.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.70|16.70	3.196620|3.196620	0.58126|0.58126	.|.	.|.	ENSG00000080839|ENSG00000080839	ENST00000373664;ENST00000344359|ENST00000525052	D;D|.	0.93859|.	-3.07;-3.3|.	5.11|5.11	0.678|0.678	0.17969|0.17969	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70482|0.70482	0.3229|0.3229	M|M	0.81942|0.81942	2.565|2.565	0.49130|0.49130	D|D	0.999757|0.999757	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.996|.	T|T	0.68830|0.68830	-0.5305|-0.5305	10|5	0.31617|.	T|.	0.26|.	-16.4007|-16.4007	9.0257|9.0257	0.36227|0.36227	0.4551:0.0:0.5449:0.0|0.4551:0.0:0.5449:0.0	.|.	269;269|.	P28749-2;P28749|.	.;RBL1_HUMAN|.	Q|S	269|74	ENSP00000362768:H269Q;ENSP00000343646:H269Q|.	ENSP00000343646:H269Q|.	H|T	-|-	3|2	2|0	RBL1|RBL1	35128580|35128580	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	0.569000|0.569000	0.23638|0.23638	0.319000|0.319000	0.23209|0.23209	0.491000|0.491000	0.48974|0.48974	CAC|ACT	RBL1	-	NULL	ENSG00000080839		0.393	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBL1	HGNC	protein_coding	OTTHUMT00000079067.2	134	0.00	0	G	NM_002895		35695166	35695166	-1	no_errors	ENST00000373664	ensembl	human	known	69_37n	missense	148	13.95	24	SNP	0.998	C
RBM10	8241	genome.wustl.edu	37	X	47035949	47035949	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:47035949C>G	ENST00000377604.3	+	7	1369	c.627C>G	c.(625-627)ccC>ccG	p.P209P	RBM10_ENST00000345781.6_Silent_p.P132P|RBM10_ENST00000329236.7_Silent_p.P132P	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	209	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				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						ACAGTGACCCCAAGCCCAAGA	0.587																																					Melanoma(171;120 2705 19495 39241)	dbGAP											0													178.0	112.0	134.0					X																	47035949		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			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.627C>G	X.37:g.47035949C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Silent	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.P209	ENST00000377604.3	37	c.627	CCDS14274.1	X																																																																																			RBM10	-	pfscan_RRM_dom	ENSG00000182872		0.587	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM10	HGNC	protein_coding	OTTHUMT00000056381.1	82	0.00	0	C	NM_005676		47035949	47035949	+1	no_errors	ENST00000377604	ensembl	human	known	69_37n	silent	84	20.00	21	SNP	1.000	G
RBM11	54033	genome.wustl.edu	37	21	15588559	15588559	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr21:15588559G>C	ENST00000400577.3	+	1	61	c.52G>C	c.(52-54)Gag>Cag	p.E18Q	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	18	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|mRNA processing (GO:0006397)|multicellular organismal development (GO:0007275)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(U) RNA binding (GO:0008266)|protein homodimerization activity (GO:0042803)			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		TGGGAATTTAGAGGCCCGAGT	0.607																																						dbGAP											0													51.0	55.0	54.0					21																	15588559		1568	3582	5150	-	-	-	SO:0001583	missense	0			AF130358	CCDS46635.1	21q11	2013-02-12			ENSG00000185272	ENSG00000185272		"""RNA binding motif (RRM) containing"""	9897	protein-coding gene	gene with protein product						12036298	Standard	NM_144770		Approved		uc002yjo.4	P57052	OTTHUMG00000074263	ENST00000400577.3:c.52G>C	21.37:g.15588559G>C	ENSP00000383421:p.Glu18Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6YNC2|Q8NBA1|Q8NFF6	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.E18Q	ENST00000400577.3	37	c.52	CCDS46635.1	21	.	.	.	.	.	.	.	.	.	.	G	33	5.198325	0.94997	.	.	ENSG00000185272	ENST00000400577	T	0.74209	-0.82	5.13	5.13	0.70059	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.082423	0.49916	D	0.000125	T	0.78387	0.4275	L	0.28344	0.845	0.43313	D	0.995323	D	0.61697	0.99	D	0.64410	0.925	T	0.80402	-0.1397	10	0.56958	D	0.05	-14.9651	17.7392	0.88403	0.0:0.0:1.0:0.0	.	18	P57052	RBM11_HUMAN	Q	18	ENSP00000383421:E18Q	ENSP00000383421:E18Q	E	+	1	0	RBM11	14510430	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.295000	0.65692	2.551000	0.86045	0.591000	0.81541	GAG	RBM11	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000185272		0.607	RBM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM11	HGNC	protein_coding	OTTHUMT00000157818.1	81	0.00	0	G	NM_144770		15588559	15588559	+1	no_errors	ENST00000400577	ensembl	human	known	69_37n	missense	39	20.41	10	SNP	1.000	C
RBM15	64783	genome.wustl.edu	37	1	110884645	110884645	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:110884645C>G	ENST00000369784.3	+	1	3518	c.2618C>G	c.(2617-2619)tCt>tGt	p.S873C	RBM15_ENST00000487146.2_Missense_Mutation_p.S873C|RBM15_ENST00000602849.1_Missense_Mutation_p.S873C|RP5-1074L1.1_ENST00000449169.1_RNA	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	873	SPOC. {ECO:0000255|PROSITE- ProRule:PRU00249}.				negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		CGGTCCTCCTCTTCCTCAGCT	0.522			T	MKL1	acute megakaryocytic leukemia																																	dbGAP		Dom	yes		1	1p13	64783	RNA binding motif protein 15		L	0													87.0	91.0	89.0					1																	110884645		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"""RNA binding motif (RRM) containing"""	14959	protein-coding gene	gene with protein product	"""one twenty-two"""	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.2618C>G	1.37:g.110884645C>G	ENSP00000358799:p.Ser873Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Missense_Mutation	SNP	pfam_SPOC_C,pfam_RRM_dom,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.S873C	ENST00000369784.3	37	c.2618	CCDS822.1	1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.360092	0.41801	.	.	ENSG00000162775	ENST00000369784	T	0.20200	2.09	5.4	5.4	0.78164	Spen Paralogue and Orthologue SPOC, C-terminal-like (2);Spen paralogue/orthologue C-terminal, metazoa (1);Spen paralogue and orthologue SPOC, C-terminal (1);	0.000000	0.40469	N	0.001096	T	0.12008	0.0292	N	0.08118	0	0.26666	N	0.971826	B;B	0.29988	0.264;0.064	P;B	0.46144	0.505;0.021	T	0.42849	-0.9427	10	0.66056	D	0.02	-6.725	17.3211	0.87236	0.0:1.0:0.0:0.0	.	873;873	Q96T37-3;Q96T37	.;RBM15_HUMAN	C	873	ENSP00000358799:S873C	ENSP00000358799:S873C	S	+	2	0	RBM15	110686168	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.829000	0.48128	2.531000	0.85337	0.655000	0.94253	TCT	RBM15	-	pfam_SPOC_C,superfamily_SPOC-like,pfscan_SPOC_met	ENSG00000162775		0.522	RBM15-001	KNOWN	basic|CCDS	protein_coding	RBM15	HGNC	protein_coding	OTTHUMT00000031114.2	71	0.00	0	C	NM_022768		110884645	110884645	+1	no_errors	ENST00000369784	ensembl	human	known	69_37n	missense	49	25.76	17	SNP	0.613	G
RBM25	58517	genome.wustl.edu	37	14	73578242	73578242	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:73578242C>G	ENST00000261973.7	+	16	2309	c.2024C>G	c.(2023-2025)tCc>tGc	p.S675C	RBM25_ENST00000532483.1_3'UTR|RBM25_ENST00000527432.1_Missense_Mutation_p.S675C	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	675					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		GTAGGTGCTTCCAATAGTCCT	0.373																																						dbGAP											0													89.0	89.0	89.0					14																	73578242		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"""RNA binding motif (RRM) containing"""	23244	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 94"""	612427	"""RNA-binding region (RNP1, RRM) containing 7"""	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.2024C>G	14.37:g.73578242C>G	ENSP00000261973:p.Ser675Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Missense_Mutation	SNP	pfam_PWI,pfam_RRM_dom,superfamily_PWI,smart_RRM_dom,smart_PWI,pfscan_RRM_dom	p.S675C	ENST00000261973.7	37	c.2024	CCDS32113.1	14	.	.	.	.	.	.	.	.	.	.	C	13.62	2.291094	0.40494	.	.	ENSG00000119707	ENST00000261973;ENST00000527432	T;T	0.12879	2.64;2.64	6.08	6.08	0.98989	.	0.210963	0.51477	D	0.000083	T	0.26048	0.0635	L	0.48642	1.525	0.80722	D	1	D	0.61697	0.99	P	0.55824	0.785	T	0.00026	-1.2311	10	0.46703	T	0.11	.	16.3571	0.83239	0.0:0.8333:0.1667:0.0	.	675	P49756	RBM25_HUMAN	C	675	ENSP00000261973:S675C;ENSP00000431150:S675C	ENSP00000261973:S675C	S	+	2	0	RBM25	72647995	1.000000	0.71417	1.000000	0.80357	0.248000	0.25809	5.997000	0.70646	2.894000	0.99253	0.591000	0.81541	TCC	RBM25	-	NULL	ENSG00000119707		0.373	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM25	HGNC	protein_coding	OTTHUMT00000394966.1	59	0.00	0	C	XM_027330		73578242	73578242	+1	no_errors	ENST00000261973	ensembl	human	known	69_37n	missense	25	19.35	6	SNP	1.000	G
RBM26	64062	genome.wustl.edu	37	13	79943060	79943060	+	Missense_Mutation	SNP	G	G	C	rs569861265		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr13:79943060G>C	ENST00000438737.2	-	6	1140	c.700C>G	c.(700-702)Cca>Gca	p.P234A	RBM26_ENST00000267229.7_Missense_Mutation_p.P234A|RBM26_ENST00000438724.1_Missense_Mutation_p.P234A|RBM26_ENST00000461008.1_5'Flank			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	234					mRNA processing (GO:0006397)|negative regulation of phosphatase activity (GO:0010923)		metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		GAAGAGACTGGAGTATAATTA	0.378																																						dbGAP											0													142.0	140.0	141.0					13																	79943060		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF116667	CCDS9462.1, CCDS66566.1, CCDS73591.1	13q31.1	2014-06-13	2006-06-22	2006-06-22	ENSG00000139746	ENSG00000139746		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	20327	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 2"", ""protein phosphatase 1, regulatory 132"""		"""chromosome 13 open reading frame 10"""	C13orf10		11149944, 15741184	Standard	XM_005266497		Approved	PRO1777, SE70-2, FLJ20957, ZC3H17, ARRS2, PPP1R132	uc001vky.2	Q5T8P6	OTTHUMG00000017133	ENST00000438737.2:c.700C>G	13.37:g.79943060G>C	ENSP00000387531:p.Pro234Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	Missense_Mutation	SNP	pfam_PWI,superfamily_PWI,smart_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom	p.P234A	ENST00000438737.2	37	c.700		13	.	.	.	.	.	.	.	.	.	.	G	14.96	2.692412	0.48202	.	.	ENSG00000139746	ENST00000267229;ENST00000438737;ENST00000327303;ENST00000438724	T;T	0.42131	0.98;0.98	5.79	5.79	0.91817	.	0.054222	0.85682	D	0.000000	T	0.28995	0.0720	N	0.12961	0.28	0.54753	D	0.999984	B;B;B	0.27656	0.184;0.029;0.184	B;B;B	0.33890	0.172;0.023;0.172	T	0.12167	-1.0558	9	.	.	.	-11.0949	13.2637	0.60120	0.0723:0.0:0.9277:0.0	.	234;234;234	Q5T8P6-2;Q5T8P6;Q5T8P6-3	.;RBM26_HUMAN;.	A	234;235;234;234	ENSP00000267229:P234A;ENSP00000390222:P234A	.	P	-	1	0	RBM26	78841061	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.936000	0.63506	2.727000	0.93392	0.591000	0.81541	CCA	RBM26	-	NULL	ENSG00000139746		0.378	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	RBM26	HGNC	protein_coding	OTTHUMT00000045373.4	128	0.00	0	G	NM_022118		79943060	79943060	-1	no_errors	ENST00000327303	ensembl	human	known	69_37n	missense	70	43.55	54	SNP	1.000	C
RBM3	5935	genome.wustl.edu	37	X	48434506	48434506	+	Intron	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:48434506G>A	ENST00000376759.3	+	4	273				RBM3_ENST00000376755.1_Intron|RBM3_ENST00000466764.1_Intron|RBM3_ENST00000354480.2_5'UTR|RBM3_ENST00000430348.2_5'UTR|AC115618.1_ENST00000376775.2_5'Flank	NM_006743.4	NP_006734.1	P98179	RBM3_HUMAN	RNA binding motif (RNP1, RRM) protein 3						positive regulation of translation (GO:0045727)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|regulation of translation (GO:0006417)|response to cold (GO:0009409)|RNA processing (GO:0006396)|translation (GO:0006412)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ribosomal large subunit binding (GO:0043023)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4						GTGCATTCAGGTCATTTTGTG	0.502																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			BC006825	CCDS14301.1	Xp11.2	2014-05-19	2004-04-23		ENSG00000102317	ENSG00000102317		"""RNA binding motif (RRM) containing"""	9900	protein-coding gene	gene with protein product		300027	"""RNA binding motif protein 3"""			8634703	Standard	NM_006743		Approved	IS1-RNPL	uc004dkf.2	P98179	OTTHUMG00000024121	ENST00000376759.3:c.211-196G>A	X.37:g.48434506G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000376759.3	37	NULL	CCDS14301.1	X																																																																																			RBM3	-	-	ENSG00000102317		0.502	RBM3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM3	HGNC	protein_coding	OTTHUMT00000060755.1	8	0.00	0	G	NM_006743		48434506	48434506	+1	no_errors	ENST00000485213	ensembl	human	known	69_37n	rna	4	50.00	4	SNP	1.000	A
RBM33	155435	genome.wustl.edu	37	7	155471326	155471326	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:155471326G>C	ENST00000401878.3	+	4	394	c.196G>C	c.(196-198)Gag>Cag	p.E66Q	RBM33_ENST00000287912.3_Missense_Mutation_p.E66Q|RBM33_ENST00000392759.3_Missense_Mutation_p.E66Q	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	66							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		GTCAGATGAAGAGCTAAATGA	0.269																																						dbGAP											0													45.0	46.0	46.0					7																	155471326		1802	4061	5863	-	-	-	SO:0001583	missense	0			AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"""RNA binding motif (RRM) containing"""	27223	protein-coding gene	gene with protein product			"""proline rich 8"""	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.196G>C	7.37:g.155471326G>C	ENSP00000384160:p.Glu66Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Missense_Mutation	SNP	smart_RRM_dom	p.E66Q	ENST00000401878.3	37	c.196	CCDS5941.2	7	.	.	.	.	.	.	.	.	.	.	G	31	5.059052	0.93846	.	.	ENSG00000184863	ENST00000287912;ENST00000401878;ENST00000392759	T;T;T	0.34072	1.38;1.38;1.38	5.87	5.87	0.94306	.	.	.	.	.	T	0.59252	0.2180	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.994	T	0.58340	-0.7653	9	0.87932	D	0	.	20.2191	0.98319	0.0:0.0:1.0:0.0	.	66;66	Q96EV2;Q96EV2-2	RBM33_HUMAN;.	Q	66	ENSP00000287912:E66Q;ENSP00000384160:E66Q;ENSP00000376513:E66Q	ENSP00000287912:E66Q	E	+	1	0	RBM33	155164087	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.922000	0.92789	2.780000	0.95670	0.655000	0.94253	GAG	RBM33	-	NULL	ENSG00000184863		0.269	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RBM33	HGNC	protein_coding	OTTHUMT00000317225.3	118	0.00	0	G	NM_001008408		155471326	155471326	+1	no_errors	ENST00000401878	ensembl	human	known	69_37n	missense	71	17.44	15	SNP	1.000	C
RBM4	5936	genome.wustl.edu	37	11	66410985	66410985	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:66410985G>C	ENST00000409406.1	+	2	1254	c.477G>C	c.(475-477)caG>caC	p.Q159H	RBM14-RBM4_ENST00000412278.2_Missense_Mutation_p.Q134H|RBM4_ENST00000408993.2_Missense_Mutation_p.Q159H|RBM4_ENST00000396053.4_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000503028.2_Missense_Mutation_p.Q159H|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000514361.3_Missense_Mutation_p.Q134H|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000310092.7_Missense_Mutation_p.Q159H			Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	159					cap-independent translational initiation (GO:0002190)|cell differentiation (GO:0030154)|circadian regulation of translation (GO:0097167)|entrainment of circadian clock by photoperiod (GO:0043153)|IRES-dependent translational initiation (GO:0002192)|mRNA processing (GO:0006397)|negative regulation of translation (GO:0017148)|negative regulation of translation in response to stress (GO:0032055)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of nucleocytoplasmic transport (GO:0046822)|response to arsenic-containing substance (GO:0046685)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|stress-activated MAPK cascade (GO:0051403)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	miRNA binding (GO:0035198)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|pre-mRNA intronic pyrimidine-rich binding (GO:0097158)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		TGGGAGACCAGAGCGGCTGCT	0.567																																						dbGAP											0													48.0	57.0	54.0					11																	66410985		2187	4288	6475	-	-	-	SO:0001583	missense	0			U89505	CCDS41676.1, CCDS55776.1, CCDS55777.1	11q13	2013-02-12			ENSG00000173933	ENSG00000173933		"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	9901	protein-coding gene	gene with protein product		602571				9169144, 16260624	Standard	NM_002896		Approved	LARK, RBM4A, ZCRB3A, ZCCHC21		Q9BWF3	OTTHUMG00000154171	ENST00000409406.1:c.477G>C	11.37:g.66410985G>C	ENSP00000386894:p.Gln159His	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KUN0|B4E1U0|E7EQS3|O02916|Q4VC48|Q6P1P2|Q8WU85	Missense_Mutation	SNP	pfam_RRM_dom,pfam_Znf_CCHC,smart_RRM_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_RRM_dom	p.Q159H	ENST00000409406.1	37	c.477	CCDS41676.1	11	.	.	.	.	.	.	.	.	.	.	G	12.37	1.917199	0.33815	.	.	ENSG00000248643;ENSG00000248643;ENSG00000248643;ENSG00000173933;ENSG00000173933;ENSG00000173933;ENSG00000173933	ENST00000412278;ENST00000503028;ENST00000514361;ENST00000310092;ENST00000408993;ENST00000510173;ENST00000409406	T;T;T;T;T;T	0.76578	-1.03;-0.85;-0.85;-0.85;-0.85;-0.85	6.06	6.06	0.98353	.	0.154071	0.41001	U	0.000963	T	0.69663	0.3136	L	0.34521	1.04	0.37191	D	0.903914	B;B	0.20368	0.044;0.022	B;B	0.12837	0.005;0.008	T	0.65651	-0.6116	10	0.23302	T	0.38	-6.9729	18.1147	0.89549	0.0:0.0:1.0:0.0	.	134;159	B0LM41;Q9BWF3	.;RBM4_HUMAN	H	134;159;159;159;159;159;159	ENSP00000388552:Q134H;ENSP00000425760:Q159H;ENSP00000309166:Q159H;ENSP00000386561:Q159H;ENSP00000422301:Q159H;ENSP00000386894:Q159H	ENSP00000388552:Q134H	Q	+	3	2	RBM4;RBM14-RBM4	66167561	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.161000	0.58170	2.882000	0.98803	0.655000	0.94253	CAG	RBM4	-	NULL	ENSG00000173933		0.567	RBM4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RBM4	HGNC	protein_coding	OTTHUMT00000334212.1	58	0.00	0	G	NM_002896		66410985	66410985	+1	no_errors	ENST00000310092	ensembl	human	known	69_37n	missense	72	29.41	30	SNP	1.000	C
RBM47	54502	genome.wustl.edu	37	4	40440152	40440152	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:40440152G>A	ENST00000381793.2	-	3	1155	c.759C>T	c.(757-759)ctC>ctT	p.L253L	RBM47_ENST00000319592.4_Silent_p.L253L|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000295971.7_Silent_p.L253L|RBM47_ENST00000514014.1_Silent_p.L215L|RBM47_ENST00000381795.6_Silent_p.L253L			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	253	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						TCTCGATCATGAGGTTGCGCA	0.612																																						dbGAP											0													123.0	105.0	111.0					4																	40440152		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"""RNA binding motif (RRM) containing"""	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.759C>T	4.37:g.40440152G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	p.L253	ENST00000381793.2	37	c.759	CCDS43223.1	4																																																																																			RBM47	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	ENSG00000163694		0.612	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM47	HGNC	protein_coding	OTTHUMT00000250456.2	32	0.00	0	G	NM_019027		40440152	40440152	-1	no_errors	ENST00000295971	ensembl	human	known	69_37n	silent	37	30.19	16	SNP	0.998	A
RBMS1	5937	genome.wustl.edu	37	2	161138771	161138771	+	Intron	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:161138771G>C	ENST00000348849.3	-	10	1331				RBMS1_ENST00000409289.2_Intron|RBMS1_ENST00000392753.3_Missense_Mutation_p.I312M|RBMS1_ENST00000409075.1_Intron|RBMS1_ENST00000409972.1_Intron|RBMS1_ENST00000474820.1_5'UTR	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting protein 1						DNA replication (GO:0006260)|RNA processing (GO:0006396)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)		PLA2R1/RBMS1(2)								GATTTACCTTGATAGCAGAGC	0.433																																						dbGAP											0													229.0	212.0	218.0					2																	161138771		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			D28482	CCDS2213.1	2q24.2	2013-02-12			ENSG00000153250	ENSG00000153250		"""RNA binding motif (RRM) containing"""	9907	protein-coding gene	gene with protein product	"""suppressor of cdc 2 (cdc13) with RNA binding motif 2"", ""c-myc gene single strand binding protein 2"""	602310	"""chromosome 2 open reading frame 12"""	C2orf12		8041632, 8134115, 7838710	Standard	NM_016836		Approved	SCR2, MSSP-1, MSSP-2, MSSP-3, YC1, HCC-4, DKFZp564H0764	uc002ubo.3	P29558	OTTHUMG00000132031	ENST00000348849.3:c.901-896C>G	2.37:g.161138771G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14869|Q15433|Q53P46|Q53QX8|Q53RG6|Q8WV20	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA	p.I312M	ENST00000348849.3	37	c.936	CCDS2213.1	2	.	.	.	.	.	.	.	.	.	.	G	9.307	1.054522	0.19907	.	.	ENSG00000153250	ENST00000392753	T	0.22336	1.96	5.67	3.85	0.44370	.	.	.	.	.	T	0.14399	0.0348	.	.	.	0.24554	N	0.99401	B;B;B	0.25169	0.013;0.005;0.119	B;B;B	0.20384	0.001;0.001;0.029	T	0.14811	-1.0459	8	0.33940	T	0.23	.	9.0875	0.36590	0.1765:0.0:0.8235:0.0	.	178;181;312	Q5CZ65;Q5CZ66;B4DN88	.;.;.	M	312	ENSP00000376508:I312M	ENSP00000376508:I312M	I	-	3	3	RBMS1	160847017	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.954000	0.49113	1.542000	0.49330	0.655000	0.94253	ATC	RBMS1	-	NULL	ENSG00000153250		0.433	RBMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMS1	HGNC	protein_coding	OTTHUMT00000255043.4	151	0.00	0	G	NM_016836		161138771	161138771	-1	no_errors	ENST00000392753	ensembl	human	known	69_37n	missense	146	13.10	22	SNP	1.000	C
RC3H1	149041	genome.wustl.edu	37	1	173930982	173930982	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:173930982C>T	ENST00000367696.2	-	12	2434	c.2083G>A	c.(2083-2085)Gag>Aag	p.E695K	RC3H1_ENST00000367694.2_Missense_Mutation_p.E695K|RC3H1_ENST00000258349.4_Missense_Mutation_p.E695K			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	695	Pro-rich.				B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						GGTGGAATCTCAATGGGTATA	0.473																																						dbGAP											0													324.0	319.0	321.0					1																	173930982		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	29434	protein-coding gene	gene with protein product	"""KIAA2025 protein"""	609424	"""ring finger and CCCH-type zinc finger domains 1"""			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.2083G>A	1.37:g.173930982C>T	ENSP00000356669:p.Glu695Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING	p.E695K	ENST00000367696.2	37	c.2083	CCDS30940.1	1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.247066	0.80024	.	.	ENSG00000135870	ENST00000367696;ENST00000258349;ENST00000367694	T;T;T	0.48836	0.8;0.8;0.8	5.78	5.78	0.91487	.	0.140469	0.64402	D	0.000006	T	0.32912	0.0845	L	0.44542	1.39	0.43088	D	0.994758	B;B;B;B	0.27656	0.058;0.058;0.184;0.048	B;B;B;B	0.26094	0.022;0.022;0.066;0.021	T	0.12344	-1.0551	10	0.48119	T	0.1	-9.312	20.0044	0.97430	0.0:1.0:0.0:0.0	.	695;695;695;695	B9EGU6;B7ZMB3;Q5TC82-2;Q5TC82	.;.;.;RC3H1_HUMAN	K	695	ENSP00000356669:E695K;ENSP00000258349:E695K;ENSP00000356667:E695K	ENSP00000258349:E695K	E	-	1	0	RC3H1	172197605	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.961000	0.70356	2.714000	0.92807	0.650000	0.86243	GAG	RC3H1	-	NULL	ENSG00000135870		0.473	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RC3H1	HGNC	protein_coding	OTTHUMT00000090733.2	199	0.00	0	C	NM_172071		173930982	173930982	-1	no_errors	ENST00000258349	ensembl	human	known	69_37n	missense	316	14.13	52	SNP	1.000	T
RCOR2	283248	genome.wustl.edu	37	11	63681960	63681960	+	Missense_Mutation	SNP	C	C	G	rs145394702		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:63681960C>G	ENST00000301459.4	-	6	921	c.534G>C	c.(532-534)aaG>aaC	p.K178N	RCOR2_ENST00000473926.2_5'Flank	NM_173587.3	NP_775858.2	Q8IZ40	RCOR2_HUMAN	REST corepressor 2	178	SANT 1. {ECO:0000255|PROSITE- ProRule:PRU00624}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						GGCTGCGGGTCTTCTTCCAAG	0.602																																						dbGAP											0													61.0	73.0	69.0					11																	63681960		2201	4297	6498	-	-	-	SO:0001583	missense	0			BC010608	CCDS8052.1	11q13.1	2008-02-05			ENSG00000167771	ENSG00000167771			27455	protein-coding gene	gene with protein product						12477932	Standard	NM_173587		Approved		uc001nyc.3	Q8IZ40	OTTHUMG00000150472	ENST00000301459.4:c.534G>C	11.37:g.63681960C>G	ENSP00000301459:p.Lys178Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96FP3	Missense_Mutation	SNP	pfam_SANT/Myb,pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom	p.K178N	ENST00000301459.4	37	c.534	CCDS8052.1	11	.	.	.	.	.	.	.	.	.	.	C	20.8	4.051746	0.75960	.	.	ENSG00000167771	ENST00000301459	T	0.48522	0.81	4.36	4.36	0.52297	SANT domain, DNA binding (1);Homeodomain-like (1);SANT, eukarya (1);	0.000000	0.85682	D	0.000000	T	0.67097	0.2857	M	0.84326	2.69	0.80722	D	1	D	0.69078	0.997	P	0.58577	0.841	T	0.75093	-0.3439	10	0.87932	D	0	.	16.0555	0.80801	0.0:1.0:0.0:0.0	.	178	Q8IZ40	RCOR2_HUMAN	N	178	ENSP00000301459:K178N	ENSP00000301459:K178N	K	-	3	2	RCOR2	63438536	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.710000	0.37920	2.142000	0.66516	0.549000	0.68633	AAG	RCOR2	-	superfamily_Homeodomain-like,smart_SANT/Myb	ENSG00000167771		0.602	RCOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCOR2	HGNC	protein_coding	OTTHUMT00000318233.1	64	0.00	0	C	NM_173587		63681960	63681960	-1	no_errors	ENST00000301459	ensembl	human	known	69_37n	missense	44	25.42	15	SNP	1.000	G
RD3	343035	genome.wustl.edu	37	1	211652587	211652587	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:211652587C>G	ENST00000367002.4	-	3	1542	c.379G>C	c.(379-381)Gag>Cag	p.E127Q	RD3_ENST00000484910.1_5'UTR	NM_001164688.1|NM_183059.2	NP_001158160.1|NP_898882.1	Q7Z3Z2	RD3_HUMAN	retinal degeneration 3	127					response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)					central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10				OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689)		TTCATCCTCTCCAGGACCTCC	0.706																																						dbGAP											0													19.0	19.0	19.0					1																	211652587		2198	4299	6497	-	-	-	SO:0001583	missense	0			AY191519	CCDS1498.1	1q32.3	2008-02-05	2006-11-13	2006-11-13	ENSG00000198570	ENSG00000198570			19689	protein-coding gene	gene with protein product		180040	"""chromosome 1 open reading frame 36"""	C1orf36		12914764	Standard	NM_183059		Approved	LCA12	uc001hin.2	Q7Z3Z2	OTTHUMG00000037002	ENST00000367002.4:c.379G>C	1.37:g.211652587C>G	ENSP00000355969:p.Glu127Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K595	Missense_Mutation	SNP	NULL	p.E127Q	ENST00000367002.4	37	c.379	CCDS1498.1	1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.851560	0.71719	.	.	ENSG00000198570	ENST00000367002	T	0.13420	2.59	4.33	4.33	0.51752	.	0.195741	0.47455	D	0.000240	T	0.32255	0.0823	L	0.59436	1.845	0.51482	D	0.999922	D	0.71674	0.998	D	0.66351	0.943	T	0.03534	-1.1027	10	0.40728	T	0.16	-23.3685	17.2474	0.87032	0.0:1.0:0.0:0.0	.	127	Q7Z3Z2	RD3_HUMAN	Q	127	ENSP00000355969:E127Q	ENSP00000355969:E127Q	E	-	1	0	RD3	209719210	1.000000	0.71417	1.000000	0.80357	0.477000	0.33069	6.829000	0.75314	2.131000	0.65755	0.555000	0.69702	GAG	RD3	-	NULL	ENSG00000198570		0.706	RD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RD3	HGNC	protein_coding	OTTHUMT00000089837.1	18	0.00	0	C	NM_183059		211652587	211652587	-1	no_errors	ENST00000367002	ensembl	human	known	69_37n	missense	23	28.12	9	SNP	1.000	G
RDH11	51109	genome.wustl.edu	37	14	68159249	68159249	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:68159249G>A	ENST00000381346.4	-	3	365	c.255C>T	c.(253-255)atC>atT	p.I85I	RP11-1012A1.4_ENST00000553306.1_5'Flank|RDH11_ENST00000428130.2_Silent_p.I85I|RDH11_ENST00000553384.1_Silent_p.I72I|RP11-1012A1.4_ENST00000554493.1_5'Flank	NM_001252650.1|NM_016026.3	NP_001239579.1|NP_057110.3	Q8TC12	RDH11_HUMAN	retinol dehydrogenase 11 (all-trans/9-cis/11-cis)	85					adaptation of rhodopsin mediated signaling (GO:0016062)|phototransduction, visible light (GO:0007603)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|photoreceptor inner segment (GO:0001917)	NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)	12				all cancers(60;0.00047)|OV - Ovarian serous cystadenocarcinoma(108;0.00206)|BRCA - Breast invasive adenocarcinoma(234;0.00924)	Vitamin A(DB00162)	TCGTGGTCTGGATCTCTTTGG	0.488																																						dbGAP											0													213.0	202.0	206.0					14																	68159249		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF151840	CCDS32104.1, CCDS58326.1	14q24.1	2013-10-15	2006-05-09		ENSG00000072042	ENSG00000072042	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	17964	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 1"", ""androgen-regulated short-chain dehydrogenase/reductase 1"""	607849	"""retinol dehydrogenase 11 (all-trans and 9-cis)"""			12226107, 8018917, 19027726	Standard	NM_016026		Approved	MDT1, SDR7C1, ARSDR1	uc001xjv.4	Q8TC12	OTTHUMG00000171196	ENST00000381346.4:c.255C>T	14.37:g.68159249G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDK3|A8K062|B2RB26|B4DDW0|Q0QD40|Q6IAH5|Q9NRW0|Q9Y391	Missense_Mutation	SNP	NULL	p.P46S	ENST00000381346.4	37	c.136	CCDS32104.1	14																																																																																			RDH11	-	NULL	ENSG00000072042		0.488	RDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RDH11	HGNC	protein_coding	OTTHUMT00000412257.3	163	0.00	0	G			68159249	68159249	-1	no_errors	ENST00000557331	ensembl	human	known	69_37n	missense	106	40.11	71	SNP	1.000	A
RDX	5962	genome.wustl.edu	37	11	110134900	110134900	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:110134900G>C	ENST00000343115.4	-	5	571	c.252C>G	c.(250-252)ttC>ttG	p.F84L	RDX_ENST00000405097.1_Missense_Mutation_p.F84L|RDX_ENST00000530301.1_Missense_Mutation_p.F52L|RDX_ENST00000528900.1_Intron|RDX_ENST00000528498.1_Missense_Mutation_p.F84L|RDX_ENST00000544551.1_Intron	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	84	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament capping (GO:0051693)|apical protein localization (GO:0045176)|establishment of endothelial barrier (GO:0061028)|microvillus assembly (GO:0030033)|positive regulation of gene expression (GO:0010628)	apical part of cell (GO:0045177)|cell tip (GO:0051286)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|stereocilium (GO:0032420)|T-tubule (GO:0030315)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		CTTCAGGAAAGAATTTAGCTC	0.313																																					Esophageal Squamous(55;25 1062 11040 28755 44273)	dbGAP											0													37.0	39.0	38.0					11																	110134900		2201	4298	6499	-	-	-	SO:0001583	missense	0			BC020751	CCDS8343.1, CCDS58171.1, CCDS58172.1, CCDS58173.1, CCDS58174.1	11q23	2008-03-17				ENSG00000137710			9944	protein-coding gene	gene with protein product		179410	"""deafness, autosomal recessive 24"""	DFNB24		8486357, 17226784	Standard	NM_001260492		Approved		uc031qdy.1	P35241		ENST00000343115.4:c.252C>G	11.37:g.110134900G>C	ENSP00000342830:p.Phe84Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A7YIJ8|A7YIK0|A7YIK3|B7Z9U6|F5H1A7|Q86Y61	Missense_Mutation	SNP	pirsf_ERM,pfam_ERM_C,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Band_41_domain,prints_Ez/rad/moesin,prints_Band_41_fam,pfscan_FERM_domain	p.F84L	ENST00000343115.4	37	c.252	CCDS8343.1	11	.	.	.	.	.	.	.	.	.	.	G	15.26	2.779337	0.49891	.	.	ENSG00000137710	ENST00000528498;ENST00000429481;ENST00000405097;ENST00000530301;ENST00000343115;ENST00000532118;ENST00000533991	D;D;D;D;D;D	0.84589	-1.87;-1.87;-1.79;-1.87;-1.87;-1.87	4.99	1.06	0.20224	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);FERM conserved site (1);	0.000000	0.85682	D	0.000000	D	0.90438	0.7006	H	0.98883	4.36	0.80722	D	1	B;B;P	0.42203	0.043;0.394;0.773	B;B;B	0.42319	0.179;0.273;0.383	D	0.88467	0.3059	10	0.72032	D	0.01	.	8.5869	0.33664	0.5523:0.0:0.4477:0.0	.	52;84;84	A7YIK0;A7YIJ8;P35241	.;.;RADI_HUMAN	L	84;84;84;52;84;73;73	ENSP00000432112:F84L;ENSP00000384136:F84L;ENSP00000436277:F52L;ENSP00000342830:F84L;ENSP00000437140:F73L;ENSP00000432572:F73L	ENSP00000342830:F84L	F	-	3	2	RDX	109640110	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	1.134000	0.31442	0.003000	0.14656	-0.808000	0.03180	TTC	RDX	-	pirsf_ERM,pfam_FERM_N,smart_Band_41_domain,prints_Ez/rad/moesin,pfscan_FERM_domain	ENSG00000137710		0.313	RDX-001	KNOWN	basic|CCDS	protein_coding	RDX	HGNC	protein_coding	OTTHUMT00000390535.2	67	0.00	0	G	NM_002906		110134900	110134900	-1	no_errors	ENST00000530749	ensembl	human	known	69_37n	missense	33	26.67	12	SNP	1.000	C
RECQL5	9400	genome.wustl.edu	37	17	73623727	73623727	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:73623727G>C	ENST00000317905.5	-	19	3010	c.2851C>G	c.(2851-2853)Cag>Gag	p.Q951E	RECQL5_ENST00000443199.2_5'UTR|RECQL5_ENST00000423245.2_Missense_Mutation_p.Q924E	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	951					chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			GAGGTCTTCTGAGTCAGCAAG	0.612								Other identified genes with known or suspected DNA repair function																														dbGAP											0													33.0	38.0	36.0					17																	73623727		2134	4248	6382	-	-	-	SO:0001583	missense	0			AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"""RecQ protein 5"""	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.2851C>G	17.37:g.73623727G>C	ENSP00000317636:p.Gln951Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H0B1|Q9P1W7|Q9UNC8	Missense_Mutation	SNP	pfam_RecQ_helicase-like_5,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.Q951E	ENST00000317905.5	37	c.2851	CCDS42380.1	17	.	.	.	.	.	.	.	.	.	.	G	10.92	1.486600	0.26686	.	.	ENSG00000108469	ENST00000443199;ENST00000423245;ENST00000317905	T	0.52754	0.65	5.14	5.14	0.70334	.	0.150377	0.43919	D	0.000512	T	0.33440	0.0863	L	0.31926	0.97	0.29974	N	0.818274	B;B;B	0.28419	0.01;0.01;0.211	B;B;B	0.22601	0.004;0.004;0.04	T	0.17868	-1.0355	10	0.06891	T	0.86	-9.2885	15.5295	0.75942	0.0:0.2109:0.7891:0.0	.	951;924;147	O94762;Q6P4G0;Q6FIC9	RECQ5_HUMAN;.;.	E	546;951;951	ENSP00000317636:Q951E	ENSP00000317636:Q951E	Q	-	1	0	RECQL5	71135322	0.995000	0.38212	0.359000	0.25824	0.147000	0.21601	4.232000	0.58645	2.397000	0.81536	0.563000	0.77884	CAG	RECQL5	-	NULL	ENSG00000108469		0.612	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	RECQL5	HGNC	protein_coding	OTTHUMT00000448207.1	57	0.00	0	G	NM_004259		73623727	73623727	-1	no_errors	ENST00000317905	ensembl	human	known	69_37n	missense	75	15.73	14	SNP	0.351	C
RECQL5	9400	genome.wustl.edu	37	17	73624334	73624334	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:73624334G>A	ENST00000317905.5	-	18	2928	c.2769C>T	c.(2767-2769)ctC>ctT	p.L923L	RECQL5_ENST00000443199.2_5'UTR|RECQL5_ENST00000423245.2_Silent_p.L896L	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	923					chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			AGAAAGGGGTGAGGCACTTGA	0.592								Other identified genes with known or suspected DNA repair function																														dbGAP											0													77.0	88.0	84.0					17																	73624334		2048	4200	6248	-	-	-	SO:0001819	synonymous_variant	0			AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"""RecQ protein 5"""	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.2769C>T	17.37:g.73624334G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H0B1|Q9P1W7|Q9UNC8	Missense_Mutation	SNP	pfam_RecQ_helicase-like_5	p.H148Y	ENST00000317905.5	37	c.442	CCDS42380.1	17																																																																																			RECQL5	-	NULL	ENSG00000108469		0.592	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	RECQL5	HGNC	protein_coding	OTTHUMT00000448207.1	39	0.00	0	G	NM_004259		73624334	73624334	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000581825	ensembl	human	putative	69_37n	missense	82	14.43	14	SNP	0.987	A
RELN	5649	genome.wustl.edu	37	7	103207129	103207129	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:103207129C>T	ENST00000428762.1	-	32	4825	c.4666G>A	c.(4666-4668)Gaa>Aaa	p.E1556K	RELN_ENST00000343529.5_Missense_Mutation_p.E1556K|RELN_ENST00000424685.2_Missense_Mutation_p.E1556K	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1556					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATCTGTGGTTCCAGGAAGGAC	0.463																																					NSCLC(146;835 1944 15585 22231 52158)	dbGAP											0													124.0	104.0	111.0					7																	103207129		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.4666G>A	7.37:g.103207129C>T	ENSP00000392423:p.Glu1556Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Neuraminidase,superfamily_Growth_fac_rcpt,smart_EGF-like,pfscan_EG-like_dom,pfscan_Reeler_dom	p.E1556K	ENST00000428762.1	37	c.4666	CCDS47680.1	7	.	.	.	.	.	.	.	.	.	.	C	31	5.069774	0.93950	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.54675	1.88;0.56;1.88	6.08	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.57888	0.2084	N	0.19112	0.55	0.54753	D	0.999984	P;D	0.61697	0.939;0.99	P;D	0.68943	0.804;0.961	T	0.61327	-0.7085	10	0.46703	T	0.11	.	15.5187	0.75846	0.0:0.934:0.0:0.066	.	1556;1556	P78509-2;P78509	.;RELN_HUMAN	K	1556	ENSP00000392423:E1556K;ENSP00000345694:E1556K;ENSP00000388446:E1556K	ENSP00000345694:E1556K	E	-	1	0	RELN	102994365	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.280000	0.78610	1.589000	0.49982	0.591000	0.81541	GAA	RELN	-	NULL	ENSG00000189056		0.463	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	HGNC	protein_coding	OTTHUMT00000348148.1	61	0.00	0	C	NM_005045		103207129	103207129	-1	no_errors	ENST00000424685	ensembl	human	known	69_37n	missense	45	31.82	21	SNP	1.000	T
RELN	5649	genome.wustl.edu	37	7	103473983	103473983	+	Splice_Site	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:103473983C>T	ENST00000428762.1	-	3	633		c.e3+1		RELN_ENST00000343529.5_Splice_Site|RELN_ENST00000424685.2_Splice_Site	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin						associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TGGGTACTTACATGAAATTCA	0.448																																					NSCLC(146;835 1944 15585 22231 52158)	dbGAP											0													98.0	90.0	92.0					7																	103473983		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.473+1G>A	7.37:g.103473983C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Splice_Site	SNP	-	e3+1	ENST00000428762.1	37	c.473+1	CCDS47680.1	7	.	.	.	.	.	.	.	.	.	.	C	27.4	4.823774	0.90873	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3931	0.94592	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RELN	103261219	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.956000	0.76013	2.634000	0.89283	0.650000	0.86243	.	RELN	-	-	ENSG00000189056		0.448	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	HGNC	protein_coding	OTTHUMT00000348148.1	48	0.00	0	C	NM_005045	Intron	103473983	103473983	-1	no_errors	ENST00000424685	ensembl	human	known	69_37n	splice_site	46	24.59	15	SNP	1.000	T
RENBP	5973	genome.wustl.edu	37	X	153208406	153208406	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:153208406C>T	ENST00000393700.3	-	6	668	c.588G>A	c.(586-588)ctG>ctA	p.L196L	RENBP_ENST00000462086.1_5'UTR|RENBP_ENST00000412763.1_Silent_p.L196L|RENBP_ENST00000369997.3_Silent_p.L182L	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	196	Leucine-zipper.				N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262)|regulation of blood pressure (GO:0008217)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|endopeptidase inhibitor activity (GO:0004866)|N-acylglucosamine 2-epimerase activity (GO:0050121)			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	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)				N-Acetyl-D-glucosamine(DB00141)	CCACCAGGTTCAGTAGCATCA	0.692																																						dbGAP											0													52.0	48.0	49.0					X																	153208406		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0				CCDS14738.2	Xq28	2013-09-23	2001-11-28		ENSG00000102032	ENSG00000102032			9959	protein-coding gene	gene with protein product	"""N-acylglucosamine 2-epimerase"", ""GlcNAc 2-epimerase"", ""N-acetyl-D-glucosamine 2-epimerase"""	312420	"""renin-binding protein"""			1618798	Standard	NM_002910		Approved	RNBP, RBP	uc004fjo.2	P51606	OTTHUMG00000024224	ENST00000393700.3:c.588G>A	X.37:g.153208406C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DNZ3|Q96BI6	Silent	SNP	pfam_AGE/RnBP,superfamily_6-hairpin_glycosidase-like	p.L196	ENST00000393700.3	37	c.588	CCDS14738.2	X																																																																																			RENBP	-	pfam_AGE/RnBP,superfamily_6-hairpin_glycosidase-like	ENSG00000102032		0.692	RENBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RENBP	HGNC	protein_coding	OTTHUMT00000061103.3	30	0.00	0	C	NM_002910		153208406	153208406	-1	no_errors	ENST00000393700	ensembl	human	known	69_37n	silent	26	13.33	4	SNP	0.232	T
REV3L	5980	genome.wustl.edu	37	6	111695066	111695066	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:111695066C>T	ENST00000358835.3	-	14	4946	c.4492G>A	c.(4492-4494)Gaa>Aaa	p.E1498K	REV3L_ENST00000368802.3_Missense_Mutation_p.E1498K|REV3L_ENST00000435970.1_Missense_Mutation_p.E1420K|REV3L_ENST00000368805.1_Missense_Mutation_p.E1498K			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1498					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GAAATTGCTTCTGATAACGAC	0.378								DNA polymerases (catalytic subunits)																														dbGAP											0													147.0	139.0	141.0					6																	111695066		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.4492G>A	6.37:g.111695066C>T	ENSP00000351697:p.Glu1498Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O43214|Q5TC33	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B	p.E1498K	ENST00000358835.3	37	c.4492	CCDS5091.2	6	.	.	.	.	.	.	.	.	.	.	C	18.50	3.637411	0.67130	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.02067	4.57;4.57;4.57;4.47	6.04	5.16	0.70880	Ribonuclease H-like (1);	0.094996	0.46145	D	0.000310	T	0.01940	0.0061	M	0.61703	1.905	0.41246	D	0.986672	P	0.39060	0.657	B	0.35182	0.197	T	0.49370	-0.8947	10	0.72032	D	0.01	-1.3241	17.1972	0.86895	0.0:0.8739:0.1261:0.0	.	1498	O60673	DPOLZ_HUMAN	K	1498;1498;1498;1420	ENSP00000357792:E1498K;ENSP00000357795:E1498K;ENSP00000351697:E1498K;ENSP00000402003:E1420K	ENSP00000351697:E1498K	E	-	1	0	REV3L	111801759	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.095000	0.57728	1.528000	0.49103	0.563000	0.77884	GAA	REV3L	-	superfamily_RNaseH-like_dom	ENSG00000009413		0.378	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	REV3L	HGNC	protein_coding	OTTHUMT00000043695.1	105	0.00	0	C	NM_002912		111695066	111695066	-1	no_errors	ENST00000358835	ensembl	human	known	69_37n	missense	89	29.92	38	SNP	1.000	T
REV3L	5980	genome.wustl.edu	37	6	111696334	111696334	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:111696334G>A	ENST00000358835.3	-	14	3678	c.3224C>T	c.(3223-3225)tCt>tTt	p.S1075F	REV3L_ENST00000368802.3_Missense_Mutation_p.S1075F|REV3L_ENST00000435970.1_Missense_Mutation_p.S997F|REV3L_ENST00000368805.1_Missense_Mutation_p.S1075F			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1075					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TTTCCTGAAAGACAAAGTTCT	0.333								DNA polymerases (catalytic subunits)																														dbGAP											0													111.0	107.0	108.0					6																	111696334		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.3224C>T	6.37:g.111696334G>A	ENSP00000351697:p.Ser1075Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	O43214|Q5TC33	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B	p.S1075F	ENST00000358835.3	37	c.3224	CCDS5091.2	6	.	.	.	.	.	.	.	.	.	.	G	11.92	1.782071	0.31502	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.01599	4.84;4.84;4.84;4.74	5.53	5.53	0.82687	Ribonuclease H-like (1);	0.472690	0.22570	N	0.058344	T	0.01353	0.0044	L	0.54323	1.7	0.35556	D	0.804291	P	0.48016	0.904	B	0.38264	0.269	T	0.57201	-0.7852	10	0.87932	D	0	.	15.0903	0.72188	0.0:0.0:0.8577:0.1423	.	1075	O60673	DPOLZ_HUMAN	F	1075;1075;1075;997	ENSP00000357792:S1075F;ENSP00000357795:S1075F;ENSP00000351697:S1075F;ENSP00000402003:S997F	ENSP00000351697:S1075F	S	-	2	0	REV3L	111803027	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.980000	0.56895	2.584000	0.87258	0.585000	0.79938	TCT	REV3L	-	superfamily_RNaseH-like_dom	ENSG00000009413		0.333	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	REV3L	HGNC	protein_coding	OTTHUMT00000043695.1	183	0.00	0	G	NM_002912		111696334	111696334	-1	no_errors	ENST00000358835	ensembl	human	known	69_37n	missense	121	21.43	33	SNP	1.000	A
REXO2	25996	genome.wustl.edu	37	11	114311459	114311459	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:114311459G>C	ENST00000265881.5	+	2	372	c.229G>C	c.(229-231)Gaa>Caa	p.E77Q	REXO2_ENST00000539754.1_Missense_Mutation_p.E77Q|REXO2_ENST00000544196.1_Missense_Mutation_p.E77Q|REXO2_ENST00000539275.1_Missense_Mutation_p.E77Q|RP11-212D19.4_ENST00000544347.1_3'UTR	NM_015523.3	NP_056338.2	Q9Y3B8	ORN_HUMAN	RNA exonuclease 2	77	Exonuclease.				nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide metabolic process (GO:0009117)	focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(1)	4		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.65e-06)|Epithelial(105;6.09e-05)|all cancers(92;0.000494)		CATTTTGGCTGAAGTACGTGA	0.338																																						dbGAP											0													173.0	151.0	158.0					11																	114311459		2201	4296	6497	-	-	-	SO:0001583	missense	0			AF151872	CCDS8371.1	11q23.2	2013-06-10	2013-06-10		ENSG00000076043	ENSG00000076043			17851	protein-coding gene	gene with protein product		607149	"""REX2, RNA exonuclease 2 homolog (S. cerevisiae)"""			10851236, 10810093, 23741365	Standard	NM_015523		Approved	DKFZP566E144, SFN, CGI-114	uc001poy.3	Q9Y3B8	OTTHUMG00000168271	ENST00000265881.5:c.229G>C	11.37:g.114311459G>C	ENSP00000265881:p.Glu77Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R532|Q32Q18|Q53FT1|Q6FIC6|Q9UFY7	Missense_Mutation	SNP	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	p.E77Q	ENST00000265881.5	37	c.229	CCDS8371.1	11	.	.	.	.	.	.	.	.	.	.	G	16.93	3.259191	0.59321	.	.	ENSG00000076043	ENST00000265881;ENST00000544196;ENST00000539754;ENST00000539275	T;T;T;D	0.95656	1.83;1.83;1.83;-3.77	5.73	4.82	0.62117	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.046632	0.85682	D	0.000000	D	0.94059	0.8096	L	0.61387	1.9	0.80722	D	1	B;B	0.31989	0.35;0.085	B;B	0.35655	0.207;0.015	D	0.92965	0.6392	10	0.48119	T	0.1	-12.3549	13.2567	0.60083	0.0758:0.0:0.9242:0.0	.	77;77	Q9BTR4;Q9Y3B8	.;ORN_HUMAN	Q	77	ENSP00000265881:E77Q;ENSP00000437460:E77Q;ENSP00000440665:E77Q;ENSP00000443842:E77Q	ENSP00000265881:E77Q	E	+	1	0	REXO2	113816669	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.210000	0.58500	2.693000	0.91896	0.650000	0.86243	GAA	REXO2	-	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	ENSG00000076043		0.338	REXO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REXO2	HGNC	protein_coding	OTTHUMT00000399087.1	125	0.00	0	G	NM_015523		114311459	114311459	+1	no_errors	ENST00000265881	ensembl	human	known	69_37n	missense	50	54.13	59	SNP	1.000	C
REXO2	25996	genome.wustl.edu	37	11	114315287	114315288	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:114315287_114315288insA	ENST00000265881.5	+	4	477_478	c.334_335insA	c.(334-336)gagfs	p.E112fs	REXO2_ENST00000538791.1_Frame_Shift_Ins_p.E22fs|REXO2_ENST00000539754.1_Intron|REXO2_ENST00000539275.1_Intron	NM_015523.3	NP_056338.2	Q9Y3B8	ORN_HUMAN	RNA exonuclease 2	112	Exonuclease.				nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide metabolic process (GO:0009117)	focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(1)	4		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.65e-06)|Epithelial(105;6.09e-05)|all cancers(92;0.000494)		GGCAGTGAAGGAGAGTACAATT	0.465																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF151872	CCDS8371.1	11q23.2	2013-06-10	2013-06-10		ENSG00000076043	ENSG00000076043			17851	protein-coding gene	gene with protein product		607149	"""REX2, RNA exonuclease 2 homolog (S. cerevisiae)"""			10851236, 10810093, 23741365	Standard	NM_015523		Approved	DKFZP566E144, SFN, CGI-114	uc001poy.3	Q9Y3B8	OTTHUMG00000168271	ENST00000265881.5:c.335dupA	11.37:g.114315288_114315288dupA	ENSP00000265881:p.Glu112fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R532|Q32Q18|Q53FT1|Q6FIC6|Q9UFY7	Frame_Shift_Ins	INS	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	p.S113fs	ENST00000265881.5	37	c.334_335	CCDS8371.1	11																																																																																			REXO2	-	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	ENSG00000076043		0.465	REXO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REXO2	HGNC	protein_coding	OTTHUMT00000399087.1	57	0.00	0	-	NM_015523		114315287	114315288	+1	no_errors	ENST00000265881	ensembl	human	known	69_37n	frame_shift_ins	53	22.06	15	INS	1.000:1.000	A
RFC4	5984	genome.wustl.edu	37	3	186507946	186507946	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:186507946G>A	ENST00000392481.2	-	10	1262	c.981C>T	c.(979-981)atC>atT	p.I327I	SNORA63_ENST00000363450.1_RNA|SNORA4_ENST00000584302.1_RNA|RFC4_ENST00000296273.2_Silent_p.I327I|RFC4_ENST00000433496.1_Silent_p.I300I	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	327					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		GTTTTTCTGTGATAATAGACT	0.358																																						dbGAP											0													107.0	103.0	104.0					3																	186507946		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS3283.1	3q27	2010-04-21	2002-08-29		ENSG00000163918	ENSG00000163918		"""ATPases / AAA-type"""	9972	protein-coding gene	gene with protein product	"""A1 37 kDa subunit"", ""activator 1 37 kDa subunit"", ""RFC 37 kDa subunit"""	102577	"""replication factor C (activator 1) 4 (37kD)"""			7774928	Standard	NM_181573		Approved	A1, RFC37	uc003fqz.3	P35249	OTTHUMG00000156515	ENST00000392481.2:c.981C>T	3.37:g.186507946G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DM41|D3DNV2|Q6FHX7	Silent	SNP	pfam_Rep_factorC_C_dom,pfam_ATPase_AAA_core,superfamily_DNA_pol3_clamp-load_cplx_C,smart_AAA+_ATPase	p.I327	ENST00000392481.2	37	c.981	CCDS3283.1	3																																																																																			RFC4	-	pfam_Rep_factorC_C_dom,superfamily_DNA_pol3_clamp-load_cplx_C	ENSG00000163918		0.358	RFC4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RFC4	HGNC	protein_coding	OTTHUMT00000344471.1	153	0.00	0	G	NM_002916		186507946	186507946	-1	no_errors	ENST00000296273	ensembl	human	known	69_37n	silent	130	16.67	26	SNP	0.965	A
RFPL1	5988	genome.wustl.edu	37	22	29834683	29834683	+	5'UTR	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:29834683C>A	ENST00000354373.2	+	0	112				RFPL1S_ENST00000539579.1_RNA|RFPL1S_ENST00000461286.3_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1								zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						AATAGAACTTCAAATCTCTGA	0.488																																						dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0			AJ010228	CCDS13857.2	22q12	2006-04-25			ENSG00000128250	ENSG00000128250		"""RING-type (C3HC4) zinc fingers"""	9977	protein-coding gene	gene with protein product		605968				10508838	Standard	NM_021026		Approved	RNF78	uc003afn.3	O75677	OTTHUMG00000150516	ENST00000354373.2:c.-98C>A	22.37:g.29834683C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IC06|Q9UJ97	RNA	SNP	-	NULL	ENST00000354373.2	37	NULL	CCDS13857.2	22																																																																																			RFPL1-AS1	-	-	ENSG00000225465		0.488	RFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFPL1-AS1	HGNC	protein_coding	OTTHUMT00000318719.1	24	0.00	0	C	NM_021026		29834683	29834683	-1	no_errors	ENST00000461286	ensembl	human	known	69_37n	rna	55	16.67	11	SNP	0.005	A
RFTN1	23180	genome.wustl.edu	37	3	16419302	16419302	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:16419302G>A	ENST00000334133.4	-	5	1021	c.749C>T	c.(748-750)tCa>tTa	p.S250L	RFTN1_ENST00000432519.1_Missense_Mutation_p.S214L	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	250					B cell receptor signaling pathway (GO:0050853)|dsRNA transport (GO:0033227)|growth (GO:0040007)|interleukin-17 production (GO:0032620)|membrane raft assembly (GO:0001765)|protein localization to membrane raft (GO:1903044)|protein transport into membrane raft (GO:0032596)|response to exogenous dsRNA (GO:0043330)|T cell antigen processing and presentation (GO:0002457)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 3 signaling pathway (GO:0034138)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	double-stranded RNA binding (GO:0003725)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						CCCCTGTGGTGAAAGTTCTCC	0.602																																						dbGAP											0													64.0	68.0	66.0					3																	16419302		2203	4300	6503	-	-	-	SO:0001583	missense	0			D42043	CCDS33712.1	3p24.3	2010-04-09			ENSG00000131378	ENSG00000131378			30278	protein-coding gene	gene with protein product	"""raft-linking protein"""					7788527, 12805216	Standard	NM_015150		Approved	MIG2, KIAA0084, FLJ23866, Raftlin	uc003cay.3	Q14699	OTTHUMG00000156973	ENST00000334133.4:c.749C>T	3.37:g.16419302G>A	ENSP00000334153:p.Ser250Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	Missense_Mutation	SNP	NULL	p.S250L	ENST00000334133.4	37	c.749	CCDS33712.1	3	.	.	.	.	.	.	.	.	.	.	G	10.56	1.384047	0.25031	.	.	ENSG00000131378	ENST00000432519;ENST00000334133;ENST00000451036	T;T;T	0.45276	1.44;1.44;0.9	5.36	2.56	0.30785	.	2.435080	0.01316	N	0.010788	T	0.35595	0.0937	L	0.36672	1.1	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.09377	0.004;0.003	T	0.19647	-1.0299	10	0.49607	T	0.09	-0.0535	4.9663	0.14093	0.243:0.0:0.6091:0.1479	.	214;250	G3XAJ6;Q14699	.;RFTN1_HUMAN	L	214;250;250	ENSP00000403926:S214L;ENSP00000334153:S250L;ENSP00000403997:S250L	ENSP00000334153:S250L	S	-	2	0	RFTN1	16394306	0.119000	0.22226	0.006000	0.13384	0.019000	0.09904	1.775000	0.38584	0.621000	0.30232	0.561000	0.74099	TCA	RFTN1	-	NULL	ENSG00000131378		0.602	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RFTN1	HGNC	protein_coding	OTTHUMT00000346908.1	51	0.00	0	G	NM_015150		16419302	16419302	-1	no_errors	ENST00000334133	ensembl	human	known	69_37n	missense	61	12.86	9	SNP	0.002	A
RFT1	91869	genome.wustl.edu	37	3	53138048	53138048	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:53138048C>T	ENST00000296292.3	-	10	1084	c.1023G>A	c.(1021-1023)ctG>ctA	p.L341L	RFT1_ENST00000394738.3_Silent_p.L302L	NM_052859.3	NP_443091.1	Q96AA3	RFT1_HUMAN	RFT1 homolog (S. cerevisiae)	341					carbohydrate transport (GO:0008643)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)	lipid transporter activity (GO:0005319)			NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		CAGTGATGGTCAGGCCGGCCA	0.562																																						dbGAP											0													53.0	52.0	52.0					3																	53138048		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ318099	CCDS2869.1	3p21.1	2014-02-06	2005-01-26		ENSG00000163933	ENSG00000163933			30220	protein-coding gene	gene with protein product	"""congenital disorder of glycosylation 1N"""	611908	"""RFT1, requiring fifty three 1 homolog (S. cerevisiae)"""			12477932	Standard	NM_052859		Approved	CDG1N	uc003dgj.3	Q96AA3	OTTHUMG00000074035	ENST00000296292.3:c.1023G>A	3.37:g.53138048C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96J03	Silent	SNP	pfam_RFT1	p.L341	ENST00000296292.3	37	c.1023	CCDS2869.1	3																																																																																			RFT1	-	pfam_RFT1	ENSG00000163933		0.562	RFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFT1	HGNC	protein_coding	OTTHUMT00000157136.2	45	0.00	0	C	NM_052859		53138048	53138048	-1	no_errors	ENST00000296292	ensembl	human	known	69_37n	silent	33	29.79	14	SNP	1.000	T
RFTN2	130132	genome.wustl.edu	37	2	198436896	198436896	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:198436896C>G	ENST00000295049.4	-	9	1878	c.1342G>C	c.(1342-1344)Gag>Cag	p.E448Q		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2	448					dsRNA transport (GO:0033227)|response to exogenous dsRNA (GO:0043330)	plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						CGGCACTCCTCAGGCAGGTGT	0.542																																						dbGAP											0													205.0	168.0	180.0					2																	198436896		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK055136	CCDS2323.1	2q33.1	2008-02-05	2006-09-28	2006-09-28	ENSG00000162944	ENSG00000162944			26402	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 11"""	C2orf11			Standard	NM_144629		Approved	FLJ30574, Raftlin-2	uc002uuo.4	Q52LD8	OTTHUMG00000132746	ENST00000295049.4:c.1342G>C	2.37:g.198436896C>G	ENSP00000295049:p.Glu448Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14DH4|Q2TA69|Q53QE0|Q53SE1|Q96NM3	Missense_Mutation	SNP	NULL	p.E448Q	ENST00000295049.4	37	c.1342	CCDS2323.1	2	.	.	.	.	.	.	.	.	.	.	C	12.89	2.073148	0.36566	.	.	ENSG00000162944	ENST00000295049;ENST00000454447	T;T	0.50277	0.81;0.75	4.84	2.03	0.26663	.	1.613400	0.03336	N	0.194154	T	0.35595	0.0937	L	0.27053	0.805	0.09310	N	1	B	0.23937	0.094	B	0.23275	0.045	T	0.17471	-1.0368	10	0.24483	T	0.36	-1.8448	6.4861	0.22089	0.0:0.692:0.1485:0.1596	.	448	Q52LD8	RFTN2_HUMAN	Q	448;140	ENSP00000295049:E448Q;ENSP00000387459:E140Q	ENSP00000295049:E448Q	E	-	1	0	RFTN2	198145141	0.000000	0.05858	0.001000	0.08648	0.445000	0.32107	0.566000	0.23593	0.252000	0.21531	0.561000	0.74099	GAG	RFTN2	-	NULL	ENSG00000162944		0.542	RFTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFTN2	HGNC	protein_coding	OTTHUMT00000256106.2	142	0.00	0	C	NM_144629		198436896	198436896	-1	no_errors	ENST00000295049	ensembl	human	known	69_37n	missense	121	39.50	79	SNP	0.006	G
RFWD2	64326	genome.wustl.edu	37	1	176132107	176132107	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:176132107C>G	ENST00000367669.3	-	5	1174	c.660G>C	c.(658-660)caG>caC	p.Q220H	RFWD2_ENST00000308769.8_Missense_Mutation_p.Q216H	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	220					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin protein ligase activity (GO:0061630)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CTTGAAATATCTGCCACCTGT	0.373																																					Ovarian(134;1413 1765 5706 35534 51541)	dbGAP											0													81.0	79.0	80.0					1																	176132107		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001278	CCDS30944.1, CCDS44279.1	1q25.1-q25.2	2013-01-09	2012-02-23		ENSG00000143207	ENSG00000143207		"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	17440	protein-coding gene	gene with protein product		608067	"""ring finger and WD repeat domain 2"""			10395541	Standard	XM_005245447		Approved	FLJ10416, COP1, RNF200	uc001gku.1	Q8NHY2	OTTHUMG00000034986	ENST00000367669.3:c.660G>C	1.37:g.176132107C>G	ENSP00000356641:p.Gln220His	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PKI0|Q504W6|Q6H103|Q9H6L7|X5D9B4	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,superfamily_WD40_repeat_dom,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q220H	ENST00000367669.3	37	c.660	CCDS30944.1	1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.017034	0.54576	.	.	ENSG00000143207	ENST00000367669;ENST00000367666;ENST00000308769;ENST00000498306;ENST00000436424	T;T;T;T	0.12147	2.71;2.71;2.71;2.71	5.65	-1.5	0.08691	.	0.000000	0.85682	D	0.000000	T	0.21631	0.0521	L	0.36672	1.1	0.51767	D	0.99993	B;D;P	0.57571	0.069;0.98;0.86	B;D;P	0.69654	0.018;0.965;0.585	T	0.00150	-1.1986	10	0.39692	T	0.17	-10.0966	12.7795	0.57469	0.0:0.6715:0.0:0.3285	.	216;220;220	Q8NHY2-2;Q8NHY2;Q504W6	.;RFWD2_HUMAN;.	H	220;75;216;79;220	ENSP00000356641:Q220H;ENSP00000356638:Q75H;ENSP00000310943:Q216H;ENSP00000433810:Q79H	ENSP00000310943:Q216H	Q	-	3	2	RFWD2	174398730	0.998000	0.40836	0.991000	0.47740	0.987000	0.75469	0.475000	0.22164	-0.223000	0.09943	-0.482000	0.04802	CAG	RFWD2	-	NULL	ENSG00000143207		0.373	RFWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFWD2	HGNC	protein_coding	OTTHUMT00000084672.2	98	0.00	0	C	NM_022457		176132107	176132107	-1	no_errors	ENST00000367669	ensembl	human	known	69_37n	missense	81	27.03	30	SNP	0.998	G
RFWD3	55159	genome.wustl.edu	37	16	74670336	74670336	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:74670336G>C	ENST00000361070.4	-	8	1431	c.1334C>G	c.(1333-1335)tCt>tGt	p.S445C	RFWD3_ENST00000571750.1_Missense_Mutation_p.S445C	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	445					DNA repair (GO:0006281)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|response to ionizing radiation (GO:0010212)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|MDM2/MDM4 family protein binding (GO:0097371)|p53 binding (GO:0002039)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						TCCTGCCTGAGATACTGTGAA	0.552																																						dbGAP											0													128.0	118.0	121.0					16																	74670336		2198	4300	6498	-	-	-	SO:0001583	missense	0			AK001382	CCDS32486.1	16q22.3	2013-01-09						"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	25539	protein-coding gene	gene with protein product		614151				21504906	Standard	XM_005256021		Approved	FLJ10520, RNF201	uc002fda.3	Q6PCD5		ENST00000361070.4:c.1334C>G	16.37:g.74670336G>C	ENSP00000354361:p.Ser445Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K585|B2RE35|D3DUJ8|Q5XKR3|Q9H9Q3|Q9NVT4	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING	p.S445C	ENST00000361070.4	37	c.1334	CCDS32486.1	16	.	.	.	.	.	.	.	.	.	.	G	22.5	4.297913	0.81025	.	.	ENSG00000168411	ENST00000361070	T	0.20463	2.07	5.61	5.61	0.85477	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.52549	0.1741	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.54275	-0.8318	10	0.52906	T	0.07	-13.7221	19.6262	0.95678	0.0:0.0:1.0:0.0	.	445	Q6PCD5	RFWD3_HUMAN	C	445	ENSP00000354361:S445C	ENSP00000354361:S445C	S	-	2	0	RFWD3	73227837	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.367000	0.97148	2.631000	0.89168	0.655000	0.94253	TCT	RFWD3	-	NULL	ENSG00000168411		0.552	RFWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFWD3	HGNC	protein_coding	OTTHUMT00000436506.2	68	0.00	0	G	NM_018124		74670336	74670336	-1	no_errors	ENST00000361070	ensembl	human	known	69_37n	missense	39	47.30	35	SNP	1.000	C
RFX2	5990	genome.wustl.edu	37	19	6004218	6004218	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:6004218C>G	ENST00000303657.5	-	13	1643	c.1494G>C	c.(1492-1494)caG>caC	p.Q498H	RFX2_ENST00000359161.3_Missense_Mutation_p.Q498H|CTC-232P5.1_ENST00000587836.1_RNA|RFX2_ENST00000592546.1_Missense_Mutation_p.Q473H	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	498					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GCACCTTGGTCTGGATGACCT	0.602																																					Colon(38;171 817 19800 47433 48051)	dbGAP											0													154.0	137.0	143.0					19																	6004218		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12157.1, CCDS12158.1	19p13.3	2011-11-23			ENSG00000087903	ENSG00000087903			9983	protein-coding gene	gene with protein product	"""trans-acting regulatory factor 2"", ""DNA binding protein RFX2"", ""HLA class II regulatory factor RFX2"""	142765				1505960	Standard	NM_000635		Approved	FLJ14226	uc002meb.3	P48378		ENST00000303657.5:c.1494G>C	19.37:g.6004218C>G	ENSP00000306335:p.Gln498His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K581|B3KNC4|Q6IQ44|Q8SNA2	Missense_Mutation	SNP	pfam_RFX1_trans_act,pfam_DNA-bd_RFX	p.Q498H	ENST00000303657.5	37	c.1494	CCDS12157.1	19	.	.	.	.	.	.	.	.	.	.	C	14.49	2.550426	0.45383	.	.	ENSG00000087903	ENST00000303657;ENST00000359161;ENST00000537791	T	0.08370	3.1	5.14	1.79	0.24919	.	0.169639	0.53938	D	0.000055	T	0.07593	0.0191	L	0.46157	1.445	0.44129	D	0.996914	B;B	0.16603	0.018;0.01	B;B	0.20384	0.029;0.013	T	0.16571	-1.0398	10	0.56958	D	0.05	-31.7535	5.5318	0.16989	0.1412:0.6184:0.0:0.2404	.	473;498	P48378-2;P48378	.;RFX2_HUMAN	H	498;473;285	ENSP00000306335:Q498H	ENSP00000306335:Q498H	Q	-	3	2	RFX2	5955218	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.704000	0.37857	0.666000	0.31087	0.655000	0.94253	CAG	RFX2	-	NULL	ENSG00000087903		0.602	RFX2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RFX2	HGNC	protein_coding	OTTHUMT00000452687.1	77	0.00	0	C	NM_000635		6004218	6004218	-1	no_errors	ENST00000303657	ensembl	human	known	69_37n	missense	51	25.00	17	SNP	1.000	G
RFX7	64864	genome.wustl.edu	37	15	56390356	56390356	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:56390356G>C	ENST00000559447.2	-	8	1010	c.739C>G	c.(739-741)Ctt>Gtt	p.L247V	RFX7_ENST00000317318.6_Missense_Mutation_p.L344V|RFX7_ENST00000422057.1_Missense_Mutation_p.L247V|RFX7_ENST00000423270.1_Missense_Mutation_p.L344V			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	247					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CCATTAGGAAGATTAGTCACT	0.408																																						dbGAP											0													118.0	113.0	115.0					15																	56390356		1895	4110	6005	-	-	-	SO:0001583	missense	0					15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"""regulatory factor X domain containing 2"""	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.739C>G	15.37:g.56390356G>C	ENSP00000453281:p.Leu247Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Missense_Mutation	SNP	pfam_DNA-bd_RFX	p.L344V	ENST00000559447.2	37	c.1030		15	.	.	.	.	.	.	.	.	.	.	G	7.058	0.565784	0.13560	.	.	ENSG00000181827	ENST00000422057;ENST00000317318;ENST00000423270	T;T;T	0.52526	0.66;0.67;0.67	5.54	2.06	0.26882	.	0.083243	0.48286	D	0.000187	T	0.23014	0.0556	N	0.08118	0	0.25115	N	0.990688	B;B	0.06786	0.0;0.001	B;B	0.06405	0.0;0.002	T	0.15178	-1.0446	10	0.22706	T	0.39	-7.4523	8.3041	0.32032	0.0:0.1239:0.405:0.4711	.	247;247	Q2KHR2;C9JU50	RFX7_HUMAN;.	V	247;344;344	ENSP00000387504:L247V;ENSP00000313299:L344V;ENSP00000397644:L344V	ENSP00000313299:L344V	L	-	1	0	RFX7	54177648	0.998000	0.40836	0.124000	0.21820	0.287000	0.27160	1.878000	0.39608	0.760000	0.33108	-0.152000	0.13540	CTT	RFX7	-	NULL	ENSG00000181827		0.408	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	RFX7	HGNC	protein_coding	OTTHUMT00000418841.3	135	0.00	0	G	NM_022841		56390356	56390356	-1	no_errors	ENST00000423270	ensembl	human	known	69_37n	missense	87	23.68	27	SNP	0.594	C
RGAG1	57529	genome.wustl.edu	37	X	109694739	109694739	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:109694739C>G	ENST00000465301.2	+	3	1140	c.894C>G	c.(892-894)ctC>ctG	p.L298L	RGAG1_ENST00000540313.1_Silent_p.L298L	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	298										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CTACCCCGCTCATGTCAGATC	0.488																																						dbGAP											0													188.0	162.0	171.0					X																	109694739		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.894C>G	X.37:g.109694739C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9P2M8	Silent	SNP	NULL	p.L298	ENST00000465301.2	37	c.894	CCDS14552.1	X																																																																																			RGAG1	-	NULL	ENSG00000243978		0.488	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGAG1	HGNC	protein_coding	OTTHUMT00000057906.2	95	0.00	0	C	NM_020769		109694739	109694739	+1	no_errors	ENST00000465301	ensembl	human	known	69_37n	silent	80	23.08	24	SNP	0.103	G
RGL2	5863	genome.wustl.edu	37	6	33263957	33263957	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:33263957C>T	ENST00000497454.1	-	6	1111	c.616G>A	c.(616-618)Gac>Aac	p.D206N	PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000437840.2_5'UTR|RGL2_ENST00000444031.2_Missense_Mutation_p.D124N	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	206	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.D206N(1)		breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						CGGATGAGGTCAGCGCTGCCC	0.652																																						dbGAP											1	Substitution - Missense(1)	lung(1)											91.0	105.0	100.0					6																	33263957		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4774.1	6p21.3	2010-02-17	2004-06-11	2004-06-16	ENSG00000237441	ENSG00000237441			9769	protein-coding gene	gene with protein product		602306	"""RAB2, member RAS oncogene family-like"""	RAB2L		8976381	Standard	NM_001243738		Approved	KE1.5, HKE1.5	uc003odv.3	O15211	OTTHUMG00000031072	ENST00000497454.1:c.616G>A	6.37:g.33263957C>T	ENSP00000420211:p.Asp206Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DG72|Q5STK0|Q9Y3F3	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.D206N	ENST00000497454.1	37	c.616	CCDS4774.1	6	.	.	.	.	.	.	.	.	.	.	C	8.277	0.814640	0.16607	.	.	ENSG00000237441	ENST00000497454;ENST00000421215;ENST00000444031	T;T	0.28666	1.6;1.6	4.88	4.88	0.63580	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (2);	0.293434	0.35067	N	0.003480	T	0.08714	0.0216	L	0.34521	1.04	0.35127	D	0.767578	B;B	0.29531	0.001;0.247	B;B	0.28139	0.002;0.086	T	0.02560	-1.1141	10	0.02654	T	1	.	13.4	0.60876	0.0:1.0:0.0:0.0	.	124;206	B4DG72;O15211	.;RGL2_HUMAN	N	206;70;124	ENSP00000420211:D206N;ENSP00000403070:D124N	ENSP00000400083:D70N	D	-	1	0	RGL2	33371935	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.837000	0.55820	2.512000	0.84698	0.643000	0.83706	GAC	RGL2	-	superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N	ENSG00000237441		0.652	RGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGL2	HGNC	protein_coding	OTTHUMT00000076098.2	42	0.00	0	C			33263957	33263957	-1	no_errors	ENST00000497454	ensembl	human	known	69_37n	missense	32	21.95	9	SNP	1.000	T
RGMA	56963	genome.wustl.edu	37	15	93616198	93616198	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:93616198G>C	ENST00000329082.7	-	2	348	c.77C>G	c.(76-78)tCa>tGa	p.S26*	RGMA_ENST00000425933.2_Nonsense_Mutation_p.S10*|RGMA_ENST00000543599.1_Nonsense_Mutation_p.S10*|RGMA_ENST00000538818.1_5'UTR|RGMA_ENST00000556658.1_5'UTR|RGMA_ENST00000557301.1_Nonsense_Mutation_p.S34*|RGMA_ENST00000556087.1_Nonsense_Mutation_p.S10*|RGMA_ENST00000557420.1_Nonsense_Mutation_p.S10*|RGMA_ENST00000542321.2_Nonsense_Mutation_p.S10*	NM_020211.2	NP_064596	Q96B86	RGMA_HUMAN	repulsive guidance molecule family member a	26					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|neural tube closure (GO:0001843)|regulation of BMP signaling pathway (GO:0030510)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			TCCCAGGGCTGAACGTCCTGC	0.622																																						dbGAP											0													47.0	62.0	57.0					15																	93616198		1941	4133	6074	-	-	-	SO:0001587	stop_gained	0			AL390083	CCDS45357.1, CCDS53973.1, CCDS53974.1	15q26.1	2013-11-06	2013-11-06			ENSG00000182175			30308	protein-coding gene	gene with protein product		607362	"""RGM domain family, member A"""			15975920	Standard	NM_020211		Approved	RGM, RGMa	uc010urc.2	Q96B86		ENST00000329082.7:c.77C>G	15.37:g.93616198G>C	ENSP00000330005:p.Ser26*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTW1|B7Z5S8|F5GXQ7|F5GZU6|G3V518|Q0JV97|Q8NC80|Q9H0E6|Q9NPM3	Nonsense_Mutation	SNP	pfam_RGM_N,pfam_RGM_C	p.S26*	ENST00000329082.7	37	c.77	CCDS45357.1	15	.	.	.	.	.	.	.	.	.	.	G	36	5.794567	0.96952	.	.	ENSG00000182175	ENST00000543599;ENST00000425933;ENST00000329082;ENST00000542321;ENST00000557301;ENST00000557420;ENST00000555598;ENST00000556950	.	.	.	4.06	4.06	0.47325	.	0.310111	0.29853	N	0.011024	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-13.2997	10.6133	0.45434	0.0:0.0:0.6689:0.3311	.	.	.	.	X	10;10;26;10;34;10;10;10	.	ENSP00000330005:S26X	S	-	2	0	RGMA	91417202	1.000000	0.71417	0.993000	0.49108	0.977000	0.68977	2.794000	0.47853	1.972000	0.57404	0.455000	0.32223	TCA	RGMA	-	pfam_RGM_N	ENSG00000182175		0.622	RGMA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RGMA	HGNC	protein_coding	OTTHUMT00000415091.1	46	0.00	0	G	NM_020211		93616198	93616198	-1	no_errors	ENST00000329082	ensembl	human	known	69_37n	nonsense	35	12.50	5	SNP	0.986	C
MSMP	692094	genome.wustl.edu	37	9	35752770	35752770	+	IGR	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:35752770G>C	ENST00000436428.2	-	0	670				RGP1_ENST00000378078.4_Missense_Mutation_p.D359H|GBA2_ENST00000545786.1_5'Flank|MSMP_ENST00000414286.1_5'Flank|RGP1_ENST00000456972.2_Missense_Mutation_p.D399H	NM_001044264.2	NP_001037729.1	Q1L6U9	MSMP_HUMAN	microseminoprotein, prostate associated							cytoplasm (GO:0005737)|extracellular space (GO:0005615)				endometrium(2)|kidney(1)|lung(3)|prostate(3)	9						AGTACCTGTAGACACCTTCAG	0.572																																						dbGAP											0													59.0	58.0	58.0					9																	35752770		1971	4167	6138	-	-	-	SO:0001628	intergenic_variant	0			DQ012170	CCDS43797.1	9p13.3	2012-10-02			ENSG00000215183	ENSG00000215183			29663	protein-coding gene	gene with protein product		612191				17338636	Standard	NM_001044264		Approved	PC-3, PSMP	uc003zyb.2	Q1L6U9	OTTHUMG00000019882		9.37:g.35752770G>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Rgp1	p.D399H	ENST00000436428.2	37	c.1195	CCDS43797.1	9	.	.	.	.	.	.	.	.	.	.	G	21.2	4.117655	0.77323	.	.	ENSG00000107185	ENST00000456972;ENST00000378078	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.76543	0.4002	M	0.63428	1.95	0.80722	D	1	D;D	0.69078	0.997;0.997	P;P	0.62089	0.898;0.898	T	0.77125	-0.2703	9	0.72032	D	0.01	-16.4395	19.3249	0.94258	0.0:0.0:1.0:0.0	.	359;359	Q92546;A8K0K1	RGP1_HUMAN;.	H	399;359	.	ENSP00000367318:D359H	D	+	1	0	RGP1	35742770	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	8.442000	0.90317	2.805000	0.96524	0.655000	0.94253	GAC	RGP1	-	NULL	ENSG00000107185		0.572	MSMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGP1	HGNC	protein_coding	OTTHUMT00000052384.2	64	0.00	0	G	NM_001044264		35752770	35752770	+1	no_errors	ENST00000456972	ensembl	human	known	69_37n	missense	104	11.86	14	SNP	1.000	C
RGPD3	653489	genome.wustl.edu	37	2	107041450	107041450	+	Silent	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:107041450G>T	ENST00000409886.3	-	20	3060	c.2973C>A	c.(2971-2973)ctC>ctA	p.L991L	RGPD3_ENST00000304514.7_Silent_p.L991L	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	991					protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CCTTGAAATTGAGGTCTTTTT	0.388																																						dbGAP											0													4.0	8.0	7.0					2																	107041450		627	1435	2062	-	-	-	SO:0001819	synonymous_variant	0				CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2973C>A	2.37:g.107041450G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B8ZZM4	Silent	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.L991	ENST00000409886.3	37	c.2973	CCDS46379.1	2																																																																																			RGPD3	-	NULL	ENSG00000153165		0.388	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD3	HGNC	protein_coding	OTTHUMT00000329975.1	154	0.00	0	G	XM_929931		107041450	107041450	-1	no_errors	ENST00000304514	ensembl	human	known	69_37n	silent	193	15.35	35	SNP	0.999	T
RGPD4	285190	genome.wustl.edu	37	2	108487503	108487503	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:108487503G>T	ENST00000408999.3	+	20	3120	c.3043G>T	c.(3043-3045)Gca>Tca	p.A1015S	RGPD4_ENST00000354986.4_Missense_Mutation_p.A1015S	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1015					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GGCCAATAAAGCAAACACTTC	0.393																																						dbGAP											0													1.0	2.0	2.0					2																	108487503		163	632	795	-	-	-	SO:0001583	missense	0			BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"""Tetratricopeptide (TTC) repeat domain containing"""	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.3043G>T	2.37:g.108487503G>T	ENSP00000386810:p.Ala1015Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B9A029	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.A1015S	ENST00000408999.3	37	c.3043	CCDS46381.1	2	.	.	.	.	.	.	.	.	.	.	-	0.006	-2.051699	0.00394	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000439322	T;T	0.38240	1.15;1.15	2.33	1.42	0.22433	.	.	.	.	.	T	0.24890	0.0604	L	0.43923	1.385	0.09310	N	0.999999	B	0.22909	0.077	B	0.24541	0.054	T	0.32561	-0.9902	9	0.07325	T	0.83	-5.7959	7.6685	0.28445	0.1397:0.0:0.8603:0.0	.	1015	Q7Z3J3	RGPD4_HUMAN	S	1015;1015;773	ENSP00000347081:A1015S;ENSP00000386810:A1015S	ENSP00000347081:A1015S	A	+	1	0	RGPD4	107853935	0.999000	0.42202	0.026000	0.17262	0.182000	0.23217	2.309000	0.43699	0.309000	0.22966	0.162000	0.16502	GCA	RGPD4	-	NULL	ENSG00000196862		0.393	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD4	HGNC	protein_coding	OTTHUMT00000330096.2	48	0.00	0	G	XM_496581		108487503	108487503	+1	no_errors	ENST00000354986	ensembl	human	known	69_37n	missense	60	17.81	13	SNP	0.419	T
RGPD4	285190	genome.wustl.edu	37	2	108488586	108488586	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:108488586G>C	ENST00000408999.3	+	20	4203	c.4126G>C	c.(4126-4128)Gaa>Caa	p.E1376Q	RGPD4_ENST00000354986.4_Missense_Mutation_p.E1376Q	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1376	RanBD1 2. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TCAATGGAAAGAAAGGGGCAT	0.348																																						dbGAP											0													2.0	3.0	3.0					2																	108488586		565	1292	1857	-	-	-	SO:0001583	missense	0			BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"""Tetratricopeptide (TTC) repeat domain containing"""	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.4126G>C	2.37:g.108488586G>C	ENSP00000386810:p.Glu1376Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B9A029	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.E1376Q	ENST00000408999.3	37	c.4126	CCDS46381.1	2	.	.	.	.	.	.	.	.	.	.	-	11.57	1.678032	0.29783	.	.	ENSG00000196862	ENST00000354986;ENST00000408999	T;T	0.55760	0.5;0.5	2.33	2.33	0.28932	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	T	0.75110	0.3805	M	0.91872	3.25	0.32192	N	0.578894	D	0.59357	0.985	D	0.69479	0.964	T	0.80701	-0.1265	9	0.87932	D	0	-37.9742	11.5771	0.50869	0.0:0.0:1.0:0.0	.	1376	Q7Z3J3	RGPD4_HUMAN	Q	1376	ENSP00000347081:E1376Q;ENSP00000386810:E1376Q	ENSP00000347081:E1376Q	E	+	1	0	RGPD4	107855018	1.000000	0.71417	1.000000	0.80357	0.451000	0.32288	7.582000	0.82546	1.303000	0.44873	0.162000	0.16502	GAA	RGPD4	-	pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom	ENSG00000196862		0.348	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD4	HGNC	protein_coding	OTTHUMT00000330096.2	134	0.00	0	G	XM_496581		108488586	108488586	+1	no_errors	ENST00000354986	ensembl	human	known	69_37n	missense	99	23.85	31	SNP	1.000	C
RGS12	6002	genome.wustl.edu	37	4	3441334	3441334	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:3441334G>C	ENST00000344733.5	+	18	5171	c.4267G>C	c.(4267-4269)Gac>Cac	p.D1423H	HGFAC_ENST00000511533.1_5'Flank|HGFAC_ENST00000382774.3_5'Flank|RGS12_ENST00000338806.4_Missense_Mutation_p.D775H	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1423					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TCCTACATCAGACCTCCCTGG	0.687																																						dbGAP											0													26.0	25.0	25.0					4																	3441334		2200	4296	6496	-	-	-	SO:0001583	missense	0			AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.4267G>C	4.37:g.3441334G>C	ENSP00000339381:p.Asp1423His	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	pfam_Raf-like_ras-bd,pfam_Regulat_G_prot_signal,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTyr_interaction_dom,smart_Regulat_G_prot_signal,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTyr_interaction_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.D1423H	ENST00000344733.5	37	c.4267	CCDS3366.1	4	.	.	.	.	.	.	.	.	.	.	G	12.14	1.850041	0.32699	.	.	ENSG00000159788	ENST00000344733;ENST00000338806	T;T	0.41400	1.36;1.0	3.18	2.31	0.28768	.	1.389620	0.05460	U	0.551019	T	0.27594	0.0678	N	0.08118	0	0.09310	N	1	B;P;B	0.35628	0.372;0.513;0.255	B;B;B	0.39419	0.299;0.299;0.157	T	0.32771	-0.9894	10	0.66056	D	0.02	-7.0119	5.5984	0.17339	0.1576:0.0:0.8424:0.0	.	765;775;1423	O14924-2;O14924-3;O14924	.;.;RGS12_HUMAN	H	1423;775	ENSP00000339381:D1423H;ENSP00000342133:D775H	ENSP00000342133:D775H	D	+	1	0	RGS12	3411132	0.000000	0.05858	0.002000	0.10522	0.044000	0.14063	0.328000	0.19681	0.876000	0.35872	0.462000	0.41574	GAC	RGS12	-	NULL	ENSG00000159788		0.687	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGS12	HGNC	protein_coding	OTTHUMT00000206602.1	10	0.00	0	G	NM_002926		3441334	3441334	+1	no_errors	ENST00000344733	ensembl	human	known	69_37n	missense	10	28.57	4	SNP	0.002	C
RGS22	26166	genome.wustl.edu	37	8	101084415	101084415	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:101084415C>G	ENST00000360863.6	-	5	577	c.383G>C	c.(382-384)aGa>aCa	p.R128T	RGS22_ENST00000523437.1_Missense_Mutation_p.R128T|RGS22_ENST00000523287.1_Intron	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	128					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TGCTGGAAGTCTTTCTTTTTT	0.318																																						dbGAP											0													113.0	103.0	106.0					8																	101084415		1814	4078	5892	-	-	-	SO:0001583	missense	0			AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.383G>C	8.37:g.101084415C>G	ENSP00000354109:p.Arg128Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal	p.R128T	ENST00000360863.6	37	c.383	CCDS43758.1	8	.	.	.	.	.	.	.	.	.	.	C	24.0	4.484674	0.84854	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523437;ENST00000520117;ENST00000519092;ENST00000519408	T;T	0.64260	-0.09;-0.09	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.80465	0.4628	M	0.76328	2.33	0.36554	D	0.87201	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.84317	0.0514	10	0.87932	D	0	.	19.7782	0.96405	0.0:1.0:0.0:0.0	.	128;128	A8K944;Q8NE09	.;RGS22_HUMAN	T	128;128;128;47;32;32	ENSP00000354109:R128T;ENSP00000428212:R128T	ENSP00000354109:R128T	R	-	2	0	RGS22	101153591	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.211000	0.72182	2.759000	0.94783	0.591000	0.81541	AGA	RGS22	-	NULL	ENSG00000132554		0.318	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGS22	HGNC	protein_coding	OTTHUMT00000380365.1	147	0.00	0	C	NM_015668		101084415	101084415	-1	no_errors	ENST00000360863	ensembl	human	known	69_37n	missense	159	14.05	26	SNP	1.000	G
RGS5	8490	genome.wustl.edu	37	1	163131767	163131767	+	Splice_Site	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:163131767C>G	ENST00000313961.5	-	3	433		c.e3-1		RGS5_ENST00000534288.1_Splice_Site|RP11-267N12.1_ENST00000415437.1_RNA|RGS5_ENST00000530507.1_Splice_Site|RGS5_ENST00000527988.1_Intron|RGS5_ENST00000367903.3_Splice_Site	NM_001254749.1|NM_003617.3	NP_001241678.1|NP_003608.1	O15539	RGS5_HUMAN	regulator of G-protein signaling 5						positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20			LUSC - Lung squamous cell carcinoma(543;0.187)			CAGCGAGGTTCTACATCAATA	0.423																																						dbGAP											0													86.0	86.0	86.0					1																	163131767		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF030108	CCDS1244.1, CCDS55652.1, CCDS58041.1	1q23.1	2008-02-05	2007-08-14		ENSG00000143248	ENSG00000143248		"""Regulators of G-protein signaling"""	10001	protein-coding gene	gene with protein product		603276	"""regulator of G-protein signalling 5"""			9747037	Standard	NM_003617		Approved		uc021pdt.1	O15539	OTTHUMG00000034441	ENST00000313961.5:c.156-1G>C	1.37:g.163131767C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	E9PMP5|Q53XA9|Q599J0	Splice_Site	SNP	-	e3-1	ENST00000313961.5	37	c.156-1	CCDS1244.1	1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.895600	0.72639	.	.	ENSG00000143248	ENST00000313961;ENST00000367903;ENST00000530507;ENST00000531476	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6285	0.84993	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RGS5	161398391	1.000000	0.71417	0.688000	0.30117	0.454000	0.32378	6.764000	0.74960	2.854000	0.98071	0.655000	0.94253	.	RGS5	-	-	ENSG00000143248		0.423	RGS5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RGS5	HGNC	protein_coding	OTTHUMT00000083264.1	54	0.00	0	C	NM_003617	Intron	163131767	163131767	-1	no_errors	ENST00000313961	ensembl	human	known	69_37n	splice_site	62	11.43	8	SNP	1.000	G
RGSL1	353299	genome.wustl.edu	37	1	182458129	182458129	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:182458129C>T	ENST00000294854.8	+	8	1529	c.1509C>T	c.(1507-1509)ttC>ttT	p.F503F	RGSL1_ENST00000542961.1_Silent_p.F538F	NM_001137669.1	NP_001131141.1	A5PLK6	RGSL_HUMAN	regulator of G-protein signaling like 1	503					termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)				central_nervous_system(2)|skin(4)	6						AGAACAGGTTCATCAGCTCCA	0.408																																					Ovarian(71;11 616 11292 12944 18021 32289 33994 41738 46526)	dbGAP											0													48.0	41.0	44.0					1																	182458129		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AF510428	CCDS58049.1	1q25	2013-04-02	2007-08-14		ENSG00000121446	ENSG00000121446			18636	protein-coding gene	gene with protein product		611012	"""regulator of G-protein signalling like 1"", ""regulator of G-protein signaling like 2"", ""regulator of G-protein signalling like 2"""	RGSL2		12801632	Standard	NM_001137669		Approved		uc009wxw.3	A5PLK6	OTTHUMG00000035217	ENST00000294854.8:c.1509C>T	1.37:g.182458129C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2Z0|A6PVM2|A6PVM3|Q0VAJ4|Q0VAJ5|Q6ZRL0|Q86UV0|Q9H084	Silent	SNP	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam	p.F503	ENST00000294854.8	37	c.1509	CCDS58049.1	1																																																																																			RGSL1	-	NULL	ENSG00000121446		0.408	RGSL1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	RGSL1	HGNC	protein_coding	OTTHUMT00000320710.3	37	0.00	0	C	NM_181572		182458129	182458129	+1	no_errors	ENST00000294854	ensembl	human	known	69_37n	silent	43	28.33	17	SNP	0.000	T
RHBDF2	79651	genome.wustl.edu	37	17	74472980	74472980	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:74472980C>T	ENST00000313080.4	-	9	1407	c.1134G>A	c.(1132-1134)ctG>ctA	p.L378L	RHBDF2_ENST00000389760.4_Silent_p.L349L|RHBDF2_ENST00000591885.1_Silent_p.L349L|RHBDF2_ENST00000592378.1_5'Flank	NM_024599.5	NP_078875.4	Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	378					negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						AGCTGCGGTTCAGCCAGTTGC	0.677																																						dbGAP											0													21.0	27.0	25.0					17																	74472980		2200	4299	6499	-	-	-	SO:0001819	synonymous_variant	0			BC016034	CCDS32743.1, CCDS32744.1	17q25.3	2014-09-17	2006-02-22	2006-02-22		ENSG00000129667			20788	protein-coding gene	gene with protein product		614404	"""rhomboid, veinlet-like 6 (Drosophila)"", ""tylosis with oesophageal cancer"""	RHBDL6, TOC		12838346, 22265016	Standard	NM_024599		Approved	FLJ22341, RHBDL5, TOCG	uc002jrq.2	Q6PJF5		ENST00000313080.4:c.1134G>A	17.37:g.74472980C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEM3|A8K801|Q5U607|Q5YGQ8|Q9H6E9	Silent	SNP	pfam_Rhomboid_SP,pfam_Peptidase_S54_rhomboid_dom	p.L378	ENST00000313080.4	37	c.1134	CCDS32743.1	17																																																																																			RHBDF2	-	NULL	ENSG00000129667		0.677	RHBDF2-001	KNOWN	basic|CCDS	protein_coding	RHBDF2	HGNC	protein_coding	OTTHUMT00000450134.1	18	0.00	0	C	NM_024599		74472980	74472980	-1	no_errors	ENST00000313080	ensembl	human	known	69_37n	silent	20	31.03	9	SNP	0.997	T
RHBG	57127	genome.wustl.edu	37	1	156354347	156354348	+	Frame_Shift_Ins	INS	-	-	C	rs71591938|rs11303415|rs587735548	byFrequency	TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:156354347_156354348insC	ENST00000368249.1	+	9	1302_1303	c.1264_1265insC	c.(1264-1266)tccfs	p.S422fs	RHBG_ENST00000368246.2_Splice_Site|RHBG_ENST00000494874.1_Intron|RHBG_ENST00000255013.3_Frame_Shift_Ins_p.S353fs|RHBG_ENST00000400992.2_Frame_Shift_Ins_p.S390fs	NM_001256396.1|NM_020407.4	NP_001243325.1|NP_065140.3	Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	422	Interaction with ANK3.				ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	anchored component of plasma membrane (GO:0046658)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|spectrin-associated cytoskeleton (GO:0014731)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)	p.R425fs*>17(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					CTTTCTGGACTCCCCCCCCAGA	0.634											OREG0013871	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											1	Deletion - Frameshift(1)	ovary(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AF193807		1q22	2013-05-22	2009-01-22		ENSG00000132677	ENSG00000132677		"""Solute carriers"""	14572	protein-coding gene	gene with protein product		607079	"""Rhesus blood group, B glycoprotein"""			10852913	Standard	NM_020407		Approved	SLC42A2	uc010pho.3	Q9H310	OTTHUMG00000024057	ENST00000368249.1:c.1272dupC	1.37:g.156354355_156354355dupC	ENSP00000357232:p.Ser422fs	Somatic	1777	WXS	Illumina GAIIx	Phase_IV	A8K475|Q5SZW4|Q5SZW6|Q5SZW7|Q6P193|Q6YJI2|Q6YJI3	Frame_Shift_Ins	INS	pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD	p.R393fs	ENST00000368249.1	37	c.1168_1169		1																																																																																			RHBG	-	superfamily_NH4_transpt_AmtB-like	ENSG00000132677		0.634	RHBG-001	NOVEL	basic	protein_coding	RHBG	HGNC	protein_coding	OTTHUMT00000060589.2	61	0.00	0	-	NM_001256395		156354347	156354348	+1	no_errors	ENST00000400992	ensembl	human	known	69_37n	frame_shift_ins	69	18.82	16	INS	0.006:0.723	C
RHEBL1	121268	genome.wustl.edu	37	12	49458909	49458909	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:49458909C>T	ENST00000301068.6	-	8	768	c.529G>A	c.(529-531)Gag>Aag	p.E177K		NM_144593.1	NP_653194.1	Q8TAI7	REBL1_HUMAN	Ras homolog enriched in brain like 1	177					GTP catabolic process (GO:0006184)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|small GTPase mediated signal transduction (GO:0007264)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(2)|large_intestine(2)|lung(5)	9						CAGCGACGCTCTTGCCCATAG	0.552																																						dbGAP											0													101.0	85.0	90.0					12																	49458909		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK098663	CCDS8778.1	12q13.12	2014-05-09				ENSG00000167550			21166	protein-coding gene	gene with protein product						12477932	Standard	NM_144593		Approved	MGC34869, FLJ25797	uc001rtc.1	Q8TAI7	OTTHUMG00000170407	ENST00000301068.6:c.529G>A	12.37:g.49458909C>T	ENSP00000301068:p.Glu177Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q56VH8	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.E177K	ENST00000301068.6	37	c.529	CCDS8778.1	12	.	.	.	.	.	.	.	.	.	.	C	10.11	1.260276	0.23051	.	.	ENSG00000167550	ENST00000301068	T	0.66815	-0.23	5.5	3.67	0.42095	.	0.118658	0.64402	N	0.000017	T	0.41880	0.1178	N	0.17723	0.515	0.36354	D	0.860259	B	0.09022	0.002	B	0.14023	0.01	T	0.36212	-0.9757	10	0.02654	T	1	.	6.1206	0.20151	0.0:0.6774:0.1545:0.1682	.	177	Q8TAI7	REBL1_HUMAN	K	177	ENSP00000301068:E177K	ENSP00000301068:E177K	E	-	1	0	RHEBL1	47745176	0.972000	0.33761	0.904000	0.35570	0.814000	0.46013	1.205000	0.32308	0.803000	0.34113	0.655000	0.94253	GAG	RHEBL1	-	NULL	ENSG00000167550		0.552	RHEBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHEBL1	HGNC	protein_coding	OTTHUMT00000408969.1	55	0.00	0	C	NM_144593		49458909	49458909	-1	no_errors	ENST00000301068	ensembl	human	known	69_37n	missense	47	18.97	11	SNP	0.933	T
RICTOR	253260	genome.wustl.edu	37	5	38947460	38947460	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:38947460G>A	ENST00000357387.3	-	32	4250	c.4220C>T	c.(4219-4221)tCc>tTc	p.S1407F	RICTOR_ENST00000296782.5_Missense_Mutation_p.S1431F	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					CCGCACTGAGGAAGATCGTTG	0.383																																						dbGAP											0													134.0	122.0	126.0					5																	38947460		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.4220C>T	5.37:g.38947460G>A	ENSP00000349959:p.Ser1407Phe	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	superfamily_ARM-type_fold	p.S1431F	ENST00000357387.3	37	c.4292	CCDS34148.1	5	.	.	.	.	.	.	.	.	.	.	G	32	5.119855	0.94385	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.55760	0.59;0.5	5.69	5.69	0.88448	.	0.098213	0.64402	D	0.000001	T	0.71290	0.3322	L	0.59436	1.845	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.80764	0.994;0.994	T	0.72500	-0.4274	10	0.87932	D	0	-7.2572	19.8165	0.96571	0.0:0.0:1.0:0.0	.	1407;1431	Q6R327;Q6R327-3	RICTR_HUMAN;.	F	1407;1431	ENSP00000349959:S1407F;ENSP00000296782:S1431F	ENSP00000296782:S1431F	S	-	2	0	RICTOR	38983217	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.292000	0.96076	2.683000	0.91414	0.655000	0.94253	TCC	RICTOR	-	NULL	ENSG00000164327		0.383	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RICTOR	HGNC	protein_coding	OTTHUMT00000366985.1	89	0.00	0	G	NM_152756		38947460	38947460	-1	no_errors	ENST00000296782	ensembl	human	known	69_37n	missense	54	28.00	21	SNP	1.000	A
RIF1	55183	genome.wustl.edu	37	2	152319552	152319553	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:152319552_152319553insA	ENST00000243326.5	+	29	4001_4002	c.3518_3519insA	c.(3517-3522)agaaaafs	p.RK1173fs	RIF1_ENST00000453091.2_Frame_Shift_Ins_p.RK1173fs|RIF1_ENST00000430328.2_Frame_Shift_Ins_p.RK1173fs|RIF1_ENST00000428287.2_Frame_Shift_Ins_p.RK1173fs|RIF1_ENST00000444746.2_Frame_Shift_Ins_p.RK1173fs			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)		AATGATGAAAGAAAAAAAGCTT	0.356																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			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.3525dupA	2.37:g.152319559_152319559dupA	ENSP00000243326:p.Arg1173fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVS0|Q9NS16	Frame_Shift_Ins	INS	pfam_Rif1_N,superfamily_ARM-type_fold	p.A1176fs	ENST00000243326.5	37	c.3518_3519	CCDS2194.1	2																																																																																			RIF1	-	NULL	ENSG00000080345		0.356	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RIF1	HGNC	protein_coding	OTTHUMT00000254836.3	75	0.00	0	-			152319552	152319553	+1	no_errors	ENST00000243326	ensembl	human	known	69_37n	frame_shift_ins	77	18.95	18	INS	0.001:0.019	A
RIMS3	9783	genome.wustl.edu	37	1	41095016	41095016	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:41095016C>G	ENST00000372684.3	-	6	970	c.501G>C	c.(499-501)cgG>cgC	p.R167R	RIMS3_ENST00000372683.1_Silent_p.R167R	NM_014747.2	NP_055562.2	Q9UJD0	RIMS3_HUMAN	regulating synaptic membrane exocytosis 3	167	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)			GCTGGCCACTCCGGTCCATGA	0.587																																						dbGAP											0													64.0	66.0	66.0					1																	41095016		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC003103	CCDS30687.1	1p34.2	2013-09-19			ENSG00000117016	ENSG00000117016			21292	protein-coding gene	gene with protein product		611600				12620390, 10748113	Standard	NM_014747		Approved	RIM3, NIM3	uc001cfu.1	Q9UJD0	OTTHUMG00000007453	ENST00000372684.3:c.501G>C	1.37:g.41095016C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPV8|Q92511|X5D7U7	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.R167	ENST00000372684.3	37	c.501	CCDS30687.1	1																																																																																			RIMS3	-	superfamily_C2_Ca/lipid-bd_dom_CaLB	ENSG00000117016		0.587	RIMS3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RIMS3	HGNC	protein_coding	OTTHUMT00000019585.1	40	0.00	0	C	NM_014747		41095016	41095016	-1	no_errors	ENST00000372683	ensembl	human	known	69_37n	silent	37	19.57	9	SNP	0.979	G
RIPK1	8737	genome.wustl.edu	37	6	3104462	3104462	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:3104462G>C	ENST00000259808.4	+	8	1217	c.919G>C	c.(919-921)Gag>Cag	p.E307Q	RIPK1_ENST00000479389.1_3'UTR|RIPK1_ENST00000541791.1_Missense_Mutation_p.E261Q|RIPK1_ENST00000380409.2_Missense_Mutation_p.E307Q			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	307	Interaction with SQSTM1.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|amyloid fibril formation (GO:1990000)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to tumor necrosis factor (GO:0071356)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|peptidyl-serine autophosphorylation (GO:0036289)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of ATP:ADP antiporter activity (GO:0070926)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to tumor necrosis factor (GO:0034612)|ripoptosome assembly (GO:0097343)|ripoptosome assembly involved in necroptotic process (GO:1901026)|T cell apoptotic process (GO:0070231)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|death domain binding (GO:0070513)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				ATTATAGAAAGAGTATTCAAA	0.348																																						dbGAP											0													83.0	82.0	82.0					6																	3104462		2203	4300	6503	-	-	-	SO:0001583	missense	0			U25994	CCDS4482.1	6p25.2	2008-02-05			ENSG00000137275	ENSG00000137275			10019	protein-coding gene	gene with protein product		603453				7538908, 8612133	Standard	XM_005249458		Approved	RIP	uc003mux.3	Q13546	OTTHUMG00000014134	ENST00000259808.4:c.919G>C	6.37:g.3104462G>C	ENSP00000259808:p.Glu307Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV89|B2RAG1|B4E3F9|Q13180|Q59H33	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Death,superfamily_Kinase-like_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Death,pfscan_Death,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E307Q	ENST00000259808.4	37	c.919	CCDS4482.1	6	.	.	.	.	.	.	.	.	.	.	G	0.272	-0.991900	0.02162	.	.	ENSG00000137275	ENST00000259808;ENST00000541791;ENST00000380409	T;T;T	0.76709	-1.04;-0.58;-1.04	5.07	-2.99	0.05497	Protein kinase-like domain (1);	1.120050	0.06338	N	0.707525	T	0.40743	0.1129	L	0.38838	1.175	0.58432	D	0.999994	B;B	0.15473	0.013;0.008	B;B	0.10450	0.005;0.003	T	0.48410	-0.9038	10	0.18276	T	0.48	-2.5208	1.8976	0.03261	0.3025:0.2252:0.3585:0.1139	.	261;307	Q13546-2;Q13546	.;RIPK1_HUMAN	Q	307;261;307	ENSP00000259808:E307Q;ENSP00000442294:E261Q;ENSP00000369773:E307Q	ENSP00000259808:E307Q	E	+	1	0	RIPK1	3049461	0.009000	0.17119	0.001000	0.08648	0.091000	0.18340	-0.421000	0.07053	-0.414000	0.07495	-0.156000	0.13503	GAG	RIPK1	-	superfamily_Kinase-like_dom	ENSG00000137275		0.348	RIPK1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	RIPK1	HGNC	protein_coding	OTTHUMT00000039659.2	89	0.00	0	G	NM_003804		3104462	3104462	+1	no_errors	ENST00000259808	ensembl	human	known	69_37n	missense	76	22.45	22	SNP	0.003	C
RLF	6018	genome.wustl.edu	37	1	40702532	40702532	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:40702532C>T	ENST00000372771.4	+	8	2185	c.2158C>T	c.(2158-2160)Cga>Tga	p.R720*		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	720					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			TACTTACTGTCGACGACATTT	0.383																																						dbGAP											0													117.0	118.0	118.0					1																	40702532		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.2158C>T	1.37:g.40702532C>T	ENSP00000361857:p.Arg720*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CQ1|Q9NU60	Nonsense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R720*	ENST00000372771.4	37	c.2158	CCDS448.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.337650	0.95758	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.2224	14.1492	0.65370	0.2615:0.7385:0.0:0.0	.	.	.	.	X	720;413	.	ENSP00000361857:R720X	R	+	1	2	RLF	40475119	0.996000	0.38824	0.998000	0.56505	0.985000	0.73830	1.667000	0.37471	2.941000	0.99782	0.655000	0.94253	CGA	RLF	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000117000		0.383	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLF	HGNC	protein_coding	OTTHUMT00000015767.1	46	0.00	0	C	NM_012421		40702532	40702532	+1	no_errors	ENST00000372771	ensembl	human	known	69_37n	nonsense	35	20.45	9	SNP	1.000	T
RLF	6018	genome.wustl.edu	37	1	40705496	40705496	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:40705496G>C	ENST00000372771.4	+	8	5149	c.5122G>C	c.(5122-5124)Gaa>Caa	p.E1708Q		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1708					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			CAATGGGACTGAAAGTGGGAC	0.388																																						dbGAP											0													58.0	59.0	59.0					1																	40705496		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.5122G>C	1.37:g.40705496G>C	ENSP00000361857:p.Glu1708Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CQ1|Q9NU60	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E1708Q	ENST00000372771.4	37	c.5122	CCDS448.1	1	.	.	.	.	.	.	.	.	.	.	G	11.76	1.735767	0.30774	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	T	0.15139	2.45	5.78	4.81	0.61882	.	0.326534	0.36703	N	0.002449	T	0.16428	0.0395	L	0.29908	0.895	0.43172	D	0.994973	P;P	0.46142	0.873;0.799	B;B	0.43225	0.412;0.234	T	0.01027	-1.1476	10	0.72032	D	0.01	-20.602	15.0173	0.71597	0.0:0.1415:0.8585:0.0	.	1401;1708	F5H2M5;Q13129	.;RLF_HUMAN	Q	1708;1401	ENSP00000361857:E1708Q	ENSP00000361857:E1708Q	E	+	1	0	RLF	40478083	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.341000	0.52151	2.890000	0.99128	0.655000	0.94253	GAA	RLF	-	NULL	ENSG00000117000		0.388	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLF	HGNC	protein_coding	OTTHUMT00000015767.1	18	0.00	0	G	NM_012421		40705496	40705496	+1	no_errors	ENST00000372771	ensembl	human	known	69_37n	missense	12	25.00	4	SNP	1.000	C
RIT1	6016	genome.wustl.edu	37	1	155874117	155874117	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:155874117G>C	ENST00000368323.3	-	5	618	c.414C>G	c.(412-414)ctC>ctG	p.L138L	RIT1_ENST00000368322.3_Silent_p.L155L|RIT1_ENST00000539040.1_Silent_p.L102L	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	138					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)			TTAGCTGTTTGAGGTCTGACT	0.393																																						dbGAP											0													112.0	100.0	104.0					1																	155874117		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			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.414C>G	1.37:g.155874117G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DQE8|O00646|O00720|Q5VY89|Q5VY90	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,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.L138	ENST00000368323.3	37	c.414	CCDS1123.1	1																																																																																			RIT1	-	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000143622		0.393	RIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIT1	HGNC	protein_coding	OTTHUMT00000039593.1	72	0.00	0	G	NM_006912		155874117	155874117	-1	no_errors	ENST00000368323	ensembl	human	known	69_37n	silent	60	25.93	21	SNP	0.006	C
RLIM	51132	genome.wustl.edu	37	X	73812248	73812248	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:73812248G>C	ENST00000332687.6	-	4	1120	c.902C>G	c.(901-903)tCa>tGa	p.S301*	RLIM_ENST00000349225.2_Nonsense_Mutation_p.S301*	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	301					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGCTGTGTCTGAAGAACCTGC	0.468																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	dbGAP											0													58.0	50.0	52.0					X																	73812248		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"""RING-type (C3HC4) zinc fingers"""	13429	protein-coding gene	gene with protein product	"""ring zinc finger protein NY-REN-43antigen"", ""LIM domain interacting ring finger protein"""	300379	"""ring finger protein 12"""	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.902C>G	X.37:g.73812248G>C	ENSP00000328059:p.Ser301*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBQ1|D3DTE0|Q96D38|Q9Y598	Nonsense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.S301*	ENST00000332687.6	37	c.902	CCDS14427.1	X	.	.	.	.	.	.	.	.	.	.	G	37	6.308049	0.97462	.	.	ENSG00000131263	ENST00000332687;ENST00000349225	.	.	.	5.79	5.79	0.91817	.	0.380726	0.28488	N	0.015170	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-0.5771	19.0094	0.92867	0.0:0.0:1.0:0.0	.	.	.	.	X	301	.	ENSP00000328059:S301X	S	-	2	0	RLIM	73728973	1.000000	0.71417	0.998000	0.56505	0.891000	0.51852	6.778000	0.75043	2.437000	0.82529	0.600000	0.82982	TCA	RLIM	-	NULL	ENSG00000131263		0.468	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLIM	HGNC	protein_coding	OTTHUMT00000057268.1	92	0.00	0	G	NM_016120		73812248	73812248	-1	no_errors	ENST00000332687	ensembl	human	known	69_37n	nonsense	39	48.00	36	SNP	1.000	C
RLTPR	146206	genome.wustl.edu	37	16	67679969	67679969	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:67679969G>A	ENST00000334583.6	+	4	563	c.235G>A	c.(235-237)Gag>Aag	p.E79K	RLTPR_ENST00000545661.1_Missense_Mutation_p.E79K	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	79					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GGCGCTGCAGGAGACACCCCC	0.637																																						dbGAP											0													85.0	93.0	90.0					16																	67679969		2083	4214	6297	-	-	-	SO:0001583	missense	0			AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"""RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein"", ""leucine rich repeat containing 16C"""	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.235G>A	16.37:g.67679969G>A	ENSP00000334958:p.Glu79Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B8X2Z3	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.E79K	ENST00000334583.6	37	c.235	CCDS45513.1	16	.	.	.	.	.	.	.	.	.	.	G	8.587	0.883766	0.17467	.	.	ENSG00000159753	ENST00000334583;ENST00000545661	T;T	0.13089	2.62;2.63	4.57	4.57	0.56435	.	0.267927	0.40222	N	0.001148	T	0.10252	0.0251	N	0.14661	0.345	0.34071	D	0.658509	P;P	0.51791	0.948;0.63	P;B	0.49276	0.605;0.084	T	0.01874	-1.1256	10	0.02654	T	1	-17.4277	14.1996	0.65693	0.0:0.0:1.0:0.0	.	79;79	B8X2Z3;Q6F5E8	.;LR16C_HUMAN	K	79	ENSP00000334958:E79K;ENSP00000441481:E79K	ENSP00000334958:E79K	E	+	1	0	RLTPR	66237470	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	3.874000	0.56101	2.380000	0.81148	0.561000	0.74099	GAG	RLTPR	-	NULL	ENSG00000159753		0.637	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RLTPR	HGNC	protein_coding	OTTHUMT00000467858.1	35	0.00	0	G	NM_001013838		67679969	67679969	+1	no_errors	ENST00000334583	ensembl	human	known	69_37n	missense	60	11.76	8	SNP	1.000	A
RMI1	80010	genome.wustl.edu	37	9	86617579	86617579	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:86617579G>C	ENST00000325875.3	+	3	2010	c.1678G>C	c.(1678-1680)Gaa>Caa	p.E560Q		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	560					DNA replication (GO:0006260)|glucose homeostasis (GO:0042593)|multicellular organism growth (GO:0035264)|reduction of food intake in response to dietary excess (GO:0002023)|response to glucose (GO:0009749)	nucleus (GO:0005634)				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						CTCAGTACCAGAAATGAAACA	0.373																																						dbGAP											0													146.0	141.0	143.0					9																	86617579		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK022950	CCDS6669.1	9q22.1	2013-06-10	2013-06-10	2006-06-12	ENSG00000178966	ENSG00000178966			25764	protein-coding gene	gene with protein product	"""BLM-Associated Polypeptide, 75 kDa"""	610404	"""chromosome 9 open reading frame 76"", ""RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae)"""	C9orf76		15775963, 20826341	Standard	NM_024945		Approved	FLJ12888, BLAP75	uc004anq.4	Q9H9A7	OTTHUMG00000020113	ENST00000325875.3:c.1678G>C	9.37:g.86617579G>C	ENSP00000317039:p.Glu560Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q05BX1|Q05CW3|Q5SQG8|Q5SQG9|Q6P1Q4|Q6PI89|Q7Z6L6	Missense_Mutation	SNP	pfam_DUF1767	p.E560Q	ENST00000325875.3	37	c.1678	CCDS6669.1	9	.	.	.	.	.	.	.	.	.	.	G	17.61	3.432354	0.62844	.	.	ENSG00000178966	ENST00000325875	T	0.39592	1.07	5.76	5.76	0.90799	.	0.053328	0.64402	D	0.000001	T	0.60996	0.2312	L	0.49350	1.555	0.54753	D	0.999984	D	0.89917	1.0	D	0.78314	0.991	T	0.54443	-0.8293	9	.	.	.	-2.1446	19.9731	0.97292	0.0:0.0:1.0:0.0	.	560	Q9H9A7	RMI1_HUMAN	Q	560	ENSP00000317039:E560Q	.	E	+	1	0	RMI1	85807399	1.000000	0.71417	1.000000	0.80357	0.584000	0.36387	8.571000	0.90752	2.715000	0.92844	0.563000	0.77884	GAA	RMI1	-	NULL	ENSG00000178966		0.373	RMI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RMI1	HGNC	protein_coding	OTTHUMT00000052870.1	104	0.00	0	G	NM_024945		86617579	86617579	+1	no_errors	ENST00000325875	ensembl	human	known	69_37n	missense	87	40.82	60	SNP	1.000	C
RMND1	55005	genome.wustl.edu	37	6	151766927	151766927	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:151766927C>T	ENST00000367303.4	-	2	142	c.20G>A	c.(19-21)aGa>aAa	p.R7K	RMND1_ENST00000336451.3_5'Flank|RMND1_ENST00000491268.1_5'UTR	NM_017909.2	NP_060379.2	Q9NWS8	RMND1_HUMAN	required for meiotic nuclear division 1 homolog (S. cerevisiae)	7					translation (GO:0006412)	mitochondrion (GO:0005739)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)		GGCCACGGCTCTGAGGAGTGT	0.343																																						dbGAP											0													26.0	23.0	24.0					6																	151766927		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000634	CCDS5232.1, CCDS75539.1	6q25.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000155906	ENSG00000155906			21176	protein-coding gene	gene with protein product		614917	"""chromosome 6 open reading frame 96"""	C6orf96			Standard	NM_001271937		Approved	bA351K16.3, FLJ20627, RMD1	uc003qoi.3	Q9NWS8	OTTHUMG00000015837	ENST00000367303.4:c.20G>A	6.37:g.151766927C>T	ENSP00000356272:p.Arg7Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8H4|Q0VDG6|Q5SZ48|Q5SZ83|Q6NSC5|Q96EN7	Missense_Mutation	SNP	pfam_DUF155	p.R7K	ENST00000367303.4	37	c.20	CCDS5232.1	6	.	.	.	.	.	.	.	.	.	.	C	9.021	0.984933	0.18889	.	.	ENSG00000155906	ENST00000367303	T	0.47177	0.85	5.57	1.56	0.23342	.	1.078860	0.07278	N	0.870287	T	0.16642	0.0400	L	0.29908	0.895	0.09310	N	0.999999	P;B	0.38078	0.617;0.043	B;B	0.36464	0.225;0.027	T	0.18335	-1.0340	10	0.37606	T	0.19	-0.0732	8.2148	0.31505	0.0:0.6554:0.0:0.3446	.	7;7	Q9NWS8-3;Q9NWS8	.;RMND1_HUMAN	K	7	ENSP00000356272:R7K	ENSP00000356272:R7K	R	-	2	0	RMND1	151808620	0.000000	0.05858	0.015000	0.15790	0.021000	0.10359	-0.025000	0.12413	0.242000	0.21303	0.563000	0.77884	AGA	RMND1	-	NULL	ENSG00000155906		0.343	RMND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RMND1	HGNC	protein_coding	OTTHUMT00000042718.2	47	0.00	0	C	NM_017909		151766927	151766927	-1	no_errors	ENST00000367303	ensembl	human	known	69_37n	missense	34	20.93	9	SNP	0.002	T
LINC01410	103352539	genome.wustl.edu	37	9	66458146	66458146	+	lincRNA	SNP	C	C	T	rs148666006		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:66458146C>T	ENST00000424345.1	+	0	67				RNA5SP283_ENST00000365604.1_RNA																							AAGCCAaaagcctacggtacc	0.627																																						dbGAP											0																																										-	-	-			0																															9.37:g.66458146C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000424345.1	37	NULL		9																																																																																			RNA5SP283	-	-	ENSG00000202474		0.627	RP11-262H14.1-001	KNOWN	basic	lincRNA	RNA5SP283	HGNC	lincRNA	OTTHUMT00000128851.1	8	0.00	0	C			66458146	66458146	-1	no_errors	ENST00000365604	ensembl	human	known	69_37n	rna	12	25.00	4	SNP	0.031	T
RNASEH2A	10535	genome.wustl.edu	37	19	12923949	12923949	+	Missense_Mutation	SNP	C	C	A	rs79767407		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:12923949C>A	ENST00000221486.4	+	7	784	c.690C>A	c.(688-690)ttC>ttA	p.F230L		NM_006397.2	NP_006388.2	O75792	RNH2A_HUMAN	ribonuclease H2, subunit A	230			F -> L (in AGS4). {ECO:0000269|PubMed:17846997}.		DNA replication (GO:0006260)|mismatch repair (GO:0006298)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	nucleus (GO:0005634)|ribonuclease H2 complex (GO:0032299)	metal ion binding (GO:0046872)|ribonuclease activity (GO:0004540)|RNA binding (GO:0003723)|RNA-DNA hybrid ribonuclease activity (GO:0004523)			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	14						TGTTCGGCTTCCCCCAGTTTG	0.562																																						dbGAP											0			GRCh37	CM074477	RNASEH2A	M	rs79767407						110.0	78.0	88.0					19																	12923949		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z97029	CCDS12282.1	19p13.13	2014-09-17	2006-08-17			ENSG00000104889	3.1.26.-		18518	protein-coding gene	gene with protein product		606034	"""ribonuclease H2, large subunit"", ""Aicardi-Goutieres syndrome 4"""			9789007, 16845400	Standard	NM_006397		Approved	RNASEHI, RNHIA, RNHL, AGS4	uc002mvg.1	O75792		ENST00000221486.4:c.690C>A	19.37:g.12923949C>A	ENSP00000221486:p.Phe230Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCY1|Q96F11	Missense_Mutation	SNP	pfam_RNase_HII/HIII_dom,superfamily_RNaseH-like_dom,tigrfam_RNase_H2_suA	p.F230L	ENST00000221486.4	37	c.690	CCDS12282.1	19	.	.	.	.	.	.	.	.	.	.	C	22.7	4.319880	0.81469	.	.	ENSG00000104889	ENST00000221486	D	0.84298	-1.83	5.59	-1.38	0.09027	Ribonuclease HII, helix-loop-helix cap domain (1);Ribonuclease HII/HIII domain (1);Ribonuclease H-like (1);	0.120166	0.64402	D	0.000020	D	0.84933	0.5582	L	0.43757	1.38	0.50039	D	0.999842	D	0.65815	0.995	P	0.61874	0.895	T	0.80535	-0.1339	10	0.28530	T	0.3	-22.302	11.4358	0.50068	0.0:0.5948:0.0:0.4052	.	230	O75792	RNH2A_HUMAN	L	230	ENSP00000221486:F230L	ENSP00000221486:F230L	F	+	3	2	RNASEH2A	12784949	0.921000	0.31238	0.998000	0.56505	0.820000	0.46376	0.003000	0.13083	-0.014000	0.14175	0.655000	0.94253	TTC	RNASEH2A	-	pfam_RNase_HII/HIII_dom,superfamily_RNaseH-like_dom,tigrfam_RNase_H2_suA	ENSG00000104889		0.562	RNASEH2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNASEH2A	HGNC	protein_coding	OTTHUMT00000451507.1	95	0.00	0	C	NM_006397		12923949	12923949	+1	no_errors	ENST00000221486	ensembl	human	known	69_37n	missense	60	17.81	13	SNP	0.997	A
RNASEH2A	10535	genome.wustl.edu	37	19	12924231	12924231	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:12924231C>T	ENST00000221486.4	+	8	945	c.851C>T	c.(850-852)tCc>tTc	p.S284F		NM_006397.2	NP_006388.2	O75792	RNH2A_HUMAN	ribonuclease H2, subunit A	284					DNA replication (GO:0006260)|mismatch repair (GO:0006298)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	nucleus (GO:0005634)|ribonuclease H2 complex (GO:0032299)	metal ion binding (GO:0046872)|ribonuclease activity (GO:0004540)|RNA binding (GO:0003723)|RNA-DNA hybrid ribonuclease activity (GO:0004523)			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	14						CCCCGTTCTTCCCACCGATAT	0.562																																						dbGAP											0													99.0	82.0	88.0					19																	12924231		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z97029	CCDS12282.1	19p13.13	2014-09-17	2006-08-17			ENSG00000104889	3.1.26.-		18518	protein-coding gene	gene with protein product		606034	"""ribonuclease H2, large subunit"", ""Aicardi-Goutieres syndrome 4"""			9789007, 16845400	Standard	NM_006397		Approved	RNASEHI, RNHIA, RNHL, AGS4	uc002mvg.1	O75792		ENST00000221486.4:c.851C>T	19.37:g.12924231C>T	ENSP00000221486:p.Ser284Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCY1|Q96F11	Missense_Mutation	SNP	pfam_RNase_HII/HIII_dom,superfamily_RNaseH-like_dom,tigrfam_RNase_H2_suA	p.S284F	ENST00000221486.4	37	c.851	CCDS12282.1	19	.	.	.	.	.	.	.	.	.	.	C	10.77	1.443057	0.25987	.	.	ENSG00000104889	ENST00000221486	D	0.83250	-1.7	4.06	4.06	0.47325	.	0.332930	0.30556	N	0.009366	T	0.79528	0.4461	L	0.54323	1.7	0.33153	D	0.545975	B	0.30406	0.278	B	0.29716	0.106	D	0.85502	0.1192	10	0.66056	D	0.02	-5.3968	14.1547	0.65410	0.0:1.0:0.0:0.0	.	284	O75792	RNH2A_HUMAN	F	284	ENSP00000221486:S284F	ENSP00000221486:S284F	S	+	2	0	RNASEH2A	12785231	0.027000	0.19231	0.891000	0.34965	0.041000	0.13682	1.335000	0.33839	2.542000	0.85734	0.655000	0.94253	TCC	RNASEH2A	-	NULL	ENSG00000104889		0.562	RNASEH2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNASEH2A	HGNC	protein_coding	OTTHUMT00000451507.1	58	0.00	0	C	NM_006397		12924231	12924231	+1	no_errors	ENST00000221486	ensembl	human	known	69_37n	missense	33	26.67	12	SNP	0.956	T
RNASEL	6041	genome.wustl.edu	37	1	182554545	182554545	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:182554545G>A	ENST00000367559.3	-	2	1650	c.1397C>T	c.(1396-1398)tCa>tTa	p.S466L	RNASEL_ENST00000539397.1_Missense_Mutation_p.S466L|RNASEL_ENST00000444138.1_Missense_Mutation_p.S466L	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	466	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mRNA processing (GO:0006397)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						AAATATAGATGACAGGACATT	0.468																																						dbGAP											0													133.0	130.0	131.0					1																	182554545		2203	4300	6503	-	-	-	SO:0001583	missense	0			L10381	CCDS1347.1	1q25	2013-01-10			ENSG00000135828	ENSG00000135828	3.1.26.-	"""Ankyrin repeat domain containing"""	10050	protein-coding gene	gene with protein product		180435	"""prostate cancer 1"""	RNS4, PRCA1		7514564	Standard	NM_021133		Approved		uc009wxz.2	Q05823	OTTHUMG00000035213	ENST00000367559.3:c.1397C>T	1.37:g.182554545G>A	ENSP00000356530:p.Ser466Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5W0L2|Q6AI46	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KEN_RNase_activator,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_PUG-dom,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom	p.S466L	ENST00000367559.3	37	c.1397	CCDS1347.1	1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.239220	0.39598	.	.	ENSG00000135828	ENST00000367559;ENST00000444138;ENST00000543858;ENST00000539397	T;T;T	0.17854	2.25;2.25;2.25	5.95	-9.62	0.00547	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	2.443990	0.02153	N	0.058163	T	0.06600	0.0169	N	0.02876	-0.465	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.003;0.003;0.003	T	0.34700	-0.9818	10	0.35671	T	0.21	3.2513	10.5699	0.45194	0.1352:0.0:0.5802:0.2846	.	466;466;466	Q5W0L2;Q6AI46;Q05823	.;.;RN5A_HUMAN	L	466;466;110;466	ENSP00000356530:S466L;ENSP00000411147:S466L;ENSP00000440844:S466L	ENSP00000356530:S466L	S	-	2	0	RNASEL	180821168	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.378000	0.07446	-0.894000	0.03925	-0.355000	0.07637	TCA	RNASEL	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	ENSG00000135828		0.468	RNASEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNASEL	HGNC	protein_coding	OTTHUMT00000085189.1	101	0.00	0	G	NM_021133		182554545	182554545	-1	no_errors	ENST00000367559	ensembl	human	known	69_37n	missense	127	11.19	16	SNP	0.000	A
RNASET2	8635	genome.wustl.edu	37	6	167366026	167366026	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:167366026C>T	ENST00000508775.1	-	2	616	c.97G>A	c.(97-99)Gag>Aag	p.E33K	RNASET2_ENST00000366855.6_5'UTR|RNASET2_ENST00000496851.2_5'Flank|RP11-514O12.4_ENST00000507747.1_Missense_Mutation_p.M13I|RNASET2_ENST00000476238.2_Missense_Mutation_p.E33K	NM_003730.4	NP_003721.2	O00584	RNT2_HUMAN	ribonuclease T2	33					RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	ribonuclease activity (GO:0004540)|ribonuclease T2 activity (GO:0033897)|RNA binding (GO:0003723)			large_intestine(4)|lung(4)	8		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665)		TTTTTCCACTCATGGTTGTCA	0.423																																						dbGAP											0													108.0	98.0	102.0					6																	167366026		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ419866	CCDS5295.1	6q27	2014-05-20			ENSG00000026297	ENSG00000026297			21686	protein-coding gene	gene with protein product		612944				9192857	Standard	NM_003730		Approved	RNASE6PL, FLJ10907, bA514O12.3	uc003qve.3	O00584	OTTHUMG00000016009	ENST00000508775.1:c.97G>A	6.37:g.167366026C>T	ENSP00000426455:p.Glu33Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDA7|E1P5C3|Q5T8Q0|Q8TCU2|Q9BZ46|Q9BZ47	Missense_Mutation	SNP	pfam_RNase_T2-like,superfamily_RNase_T2-like	p.E33K	ENST00000508775.1	37	c.97	CCDS5295.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.12|13.12	2.143659|2.143659	0.37825|0.37825	.|.	.|.	ENSG00000026297|ENSG00000249141	ENST00000508775;ENST00000428859;ENST00000476238;ENST00000478180;ENST00000310843;ENST00000425007|ENST00000507747	T;T;T|.	0.77098|.	-1.07;-1.07;-1.07|.	4.35|4.35	4.35|4.35	0.52113|0.52113	.|.	0.422776|.	0.24597|.	N|.	0.037178|.	T|T	0.18509|0.18509	0.0444|0.0444	N|N	0.24115|0.24115	0.695|0.695	0.26697|0.26697	N|N	0.971236|0.971236	P|.	0.36438|.	0.553|.	B|.	0.28553|.	0.091|.	T|T	0.12041|0.12041	-1.0563|-1.0563	10|5	0.54805|.	T|.	0.06|.	-4.2103|-4.2103	12.2605|12.2605	0.54647|0.54647	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	33|.	O00584|.	RNT2_HUMAN|.	K|I	33|13	ENSP00000426455:E33K;ENSP00000422846:E33K;ENSP00000426059:E33K|.	ENSP00000028008:E33K|.	E|M	-|-	1|3	0|0	RNASET2|RP11-514O12.4	167286016|167286016	0.240000|0.240000	0.23847|0.23847	0.015000|0.015000	0.15790|0.15790	0.058000|0.058000	0.15608|0.15608	0.990000|0.990000	0.29642|0.29642	2.243000|2.243000	0.73865|0.73865	0.655000|0.655000	0.94253|0.94253	GAG|ATG	RNASET2	-	superfamily_RNase_T2-like	ENSG00000026297		0.423	RNASET2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNASET2	HGNC	protein_coding	OTTHUMT00000043089.2	75	0.00	0	C	NM_003730		167366026	167366026	-1	no_errors	ENST00000476238	ensembl	human	known	69_37n	missense	63	13.51	10	SNP	0.089	T
RND3	390	genome.wustl.edu	37	2	151331453	151331453	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:151331453G>A	ENST00000375734.2	-	3	533	c.284C>T	c.(283-285)tCg>tTg	p.S95L	RND3_ENST00000263895.4_Missense_Mutation_p.S95L|RND3_ENST00000472416.1_5'UTR|RND3_ENST00000409557.1_5'UTR	NM_001254738.1	NP_001241667.1	P61587	RND3_HUMAN	Rho family GTPase 3	95					actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.S95L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.106)		CACAGCATCCGAATCAGGGTA	0.463																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											96.0	94.0	95.0					2																	151331453		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2190.1	2q23.3	2008-02-05	2005-01-24	2005-01-27	ENSG00000115963	ENSG00000115963			671	protein-coding gene	gene with protein product		602924	"""ras homolog gene family, member E"""	ARHE		8649376	Standard	NM_001254738		Approved	RhoE, Rho8	uc002txe.3	P61587	OTTHUMG00000131859	ENST00000375734.2:c.284C>T	2.37:g.151331453G>A	ENSP00000364886:p.Ser95Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DP95|P52199	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.S95L	ENST00000375734.2	37	c.284	CCDS2190.1	2	.	.	.	.	.	.	.	.	.	.	G	36	5.655655	0.96724	.	.	ENSG00000115963	ENST00000375734;ENST00000263895;ENST00000439275;ENST00000454202	T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45	6.02	6.02	0.97574	Small GTP-binding protein domain (1);	0.053071	0.85682	D	0.000000	D	0.84005	0.5377	M	0.90705	3.14	0.80722	D	1	D;D;D	0.69078	0.994;0.997;0.997	P;P;P	0.59115	0.852;0.814;0.814	D	0.86453	0.1774	10	0.87932	D	0	-3.7159	19.5289	0.95219	0.0:0.0:1.0:0.0	.	95;95;95	B2R838;D3DP96;P61587	.;.;RND3_HUMAN	L	95	ENSP00000364886:S95L;ENSP00000263895:S95L;ENSP00000395997:S95L;ENSP00000411950:S95L	ENSP00000263895:S95L	S	-	2	0	RND3	151039699	1.000000	0.71417	0.836000	0.33094	0.889000	0.51656	9.751000	0.98889	2.865000	0.98341	0.655000	0.94253	TCG	RND3	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom	ENSG00000115963		0.463	RND3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RND3	HGNC	protein_coding	OTTHUMT00000254809.1	98	0.00	0	G	NM_005168		151331453	151331453	-1	no_errors	ENST00000263895	ensembl	human	known	69_37n	missense	93	22.50	27	SNP	1.000	A
RNF10	9921	genome.wustl.edu	37	12	120972697	120972697	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:120972697C>T	ENST00000325954.4	+	1	544	c.83C>T	c.(82-84)tCg>tTg	p.S28L	RNF10_ENST00000413266.2_Missense_Mutation_p.S28L	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	28	Ser-rich.				negative regulation of Schwann cell proliferation (GO:0010626)|positive regulation of myelination (GO:0031643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autoubiquitination (GO:0051865)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCCGCCTCTTCGGGCAGCAGC	0.716																																						dbGAP											0													16.0	21.0	19.0					12																	120972697		2190	4276	6466	-	-	-	SO:0001583	missense	0			AB027196	CCDS9201.1	12q23-q24	2013-01-09			ENSG00000022840	ENSG00000022840		"""RING-type (C3HC4) zinc fingers"""	10055	protein-coding gene	gene with protein product							Standard	NM_014868		Approved	KIAA0262, RIE2	uc001typ.4	Q8N5U6	OTTHUMG00000168999	ENST00000325954.4:c.83C>T	12.37:g.120972697C>T	ENSP00000322242:p.Ser28Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q92550|Q9NPP8|Q9ULW4	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.S28L	ENST00000325954.4	37	c.83	CCDS9201.1	12	.	.	.	.	.	.	.	.	.	.	C	15.67	2.902599	0.52227	.	.	ENSG00000022840	ENST00000325954;ENST00000458409;ENST00000542438;ENST00000413266	D;D	0.89196	-2.48;-2.48	4.96	1.98	0.26296	.	0.842085	0.10450	N	0.673231	T	0.78910	0.4358	N	0.14661	0.345	0.32498	N	0.539264	B	0.10296	0.003	B	0.04013	0.001	T	0.72754	-0.4198	10	0.33141	T	0.24	.	9.8541	0.41075	0.0:0.6384:0.2807:0.081	.	28	Q8N5U6	RNF10_HUMAN	L	28	ENSP00000322242:S28L;ENSP00000415682:S28L	ENSP00000322242:S28L	S	+	2	0	RNF10	119457080	1.000000	0.71417	1.000000	0.80357	0.089000	0.18198	3.922000	0.56462	0.675000	0.31264	-0.467000	0.05162	TCG	RNF10	-	NULL	ENSG00000022840		0.716	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF10	HGNC	protein_coding	OTTHUMT00000401898.4	15	0.00	0	C			120972697	120972697	+1	no_errors	ENST00000413266	ensembl	human	known	69_37n	missense	13	23.53	4	SNP	0.987	T
RNF10	9921	genome.wustl.edu	37	12	120995234	120995234	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:120995234C>T	ENST00000325954.4	+	5	1256	c.795C>T	c.(793-795)atC>atT	p.I265I	RNF10_ENST00000413266.2_Silent_p.I265I	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	265					negative regulation of Schwann cell proliferation (GO:0010626)|positive regulation of myelination (GO:0031643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autoubiquitination (GO:0051865)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I265M(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AATGTCCCATCTGTTACAGTT	0.458																																						dbGAP											1	Substitution - Missense(1)	lung(1)											196.0	170.0	178.0					12																	120995234		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB027196	CCDS9201.1	12q23-q24	2013-01-09			ENSG00000022840	ENSG00000022840		"""RING-type (C3HC4) zinc fingers"""	10055	protein-coding gene	gene with protein product							Standard	NM_014868		Approved	KIAA0262, RIE2	uc001typ.4	Q8N5U6	OTTHUMG00000168999	ENST00000325954.4:c.795C>T	12.37:g.120995234C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q92550|Q9NPP8|Q9ULW4	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.S63F	ENST00000325954.4	37	c.188	CCDS9201.1	12	.	.	.	.	.	.	.	.	.	.	C	9.616	1.132505	0.21041	.	.	ENSG00000022840	ENST00000542207;ENST00000541955	.	.	.	5.74	2.91	0.33838	.	.	.	.	.	T	0.58850	0.2151	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54370	-0.8304	4	.	.	.	.	9.3912	0.38374	0.0:0.6523:0.0:0.3477	.	.	.	.	F	63;58	.	.	S	+	2	0	RNF10	119479617	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.345000	0.33953	0.897000	0.36392	0.563000	0.77884	TCT	RNF10	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	ENSG00000022840		0.458	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF10	HGNC	protein_coding	OTTHUMT00000401898.4	101	0.00	0	C			120995234	120995234	+1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000542207	ensembl	human	putative	69_37n	missense	151	18.38	34	SNP	1.000	T
RNF113A	7737	genome.wustl.edu	37	X	119005243	119005243	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:119005243C>G	ENST00000371442.2	-	1	548	c.334G>C	c.(334-336)Gag>Cag	p.E112Q	NDUFA1_ENST00000371437.4_5'Flank	NM_006978.2	NP_008909.1	O15541	R113A_HUMAN	ring finger protein 113A	112							zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						CCCATATCCTCTGGTCCCACG	0.562																																						dbGAP											0													183.0	183.0	183.0					X																	119005243		2203	4300	6503	-	-	-	SO:0001583	missense	0			X98253	CCDS14589.1	Xq24	2013-10-22	2005-03-22	2005-03-22	ENSG00000125352	ENSG00000125352		"""RING-type (C3HC4) zinc fingers"""	12974	protein-coding gene	gene with protein product			"""zinc finger protein 183 (RING finger, C3HC4 type)"""	ZNF183		9224902	Standard	NM_006978		Approved	RNF113, Cwc24	uc004esb.3	O15541	OTTHUMG00000022283	ENST00000371442.2:c.334G>C	X.37:g.119005243C>G	ENSP00000360497:p.Glu112Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBR7	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING	p.E112Q	ENST00000371442.2	37	c.334	CCDS14589.1	X	.	.	.	.	.	.	.	.	.	.	C	13.77	2.336404	0.41398	.	.	ENSG00000125352	ENST00000371442	T	0.30182	1.54	5.49	5.49	0.81192	.	0.177069	0.49305	D	0.000154	T	0.30541	0.0768	L	0.29908	0.895	0.53688	D	0.999978	D	0.60160	0.987	P	0.51945	0.685	T	0.02758	-1.1114	10	0.07175	T	0.84	-12.3244	15.7553	0.78018	0.0:1.0:0.0:0.0	.	112	O15541	R113A_HUMAN	Q	112	ENSP00000360497:E112Q	ENSP00000360497:E112Q	E	-	1	0	RNF113A	118889271	1.000000	0.71417	0.988000	0.46212	0.984000	0.73092	7.475000	0.81041	2.318000	0.78349	0.600000	0.82982	GAG	RNF113A	-	NULL	ENSG00000125352		0.562	RNF113A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF113A	HGNC	protein_coding	OTTHUMT00000058071.1	88	0.00	0	C	NM_006978		119005243	119005243	-1	no_errors	ENST00000371442	ensembl	human	known	69_37n	missense	81	24.30	26	SNP	1.000	G
RNF123	63891	genome.wustl.edu	37	3	49739544	49739544	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:49739544G>A	ENST00000327697.6	+	18	1668	c.1524G>A	c.(1522-1524)ctG>ctA	p.L508L	RNF123_ENST00000432042.1_Silent_p.L362L	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	508					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		TCCAGATCCTGAAGCTGCTGC	0.612																																						dbGAP											0													65.0	62.0	63.0					3																	49739544		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.1524G>A	3.37:g.49739544G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Silent	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING	p.L508	ENST00000327697.6	37	c.1524	CCDS33758.1	3																																																																																			RNF123	-	NULL	ENSG00000164068		0.612	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF123	HGNC	protein_coding	OTTHUMT00000346475.2	30	0.00	0	G	NM_022064		49739544	49739544	+1	no_errors	ENST00000327697	ensembl	human	known	69_37n	silent	79	16.84	16	SNP	1.000	A
RNF13	11342	genome.wustl.edu	37	3	149563845	149563845	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:149563845C>T	ENST00000344229.3	+	3	734	c.32C>T	c.(31-33)tCa>tTa	p.S11L	RNF13_ENST00000392894.3_Missense_Mutation_p.S11L|ANKUB1_ENST00000473672.1_5'UTR	NM_007282.4	NP_009213.1	O43567	RNF13_HUMAN	ring finger protein 13	11					protein autoubiquitination (GO:0051865)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	11		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CTCATGCTGTCAGCCACACAA	0.443																																						dbGAP											0													141.0	125.0	131.0					3																	149563845		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF037204	CCDS3146.1	3q25.1	2013-01-09			ENSG00000082996	ENSG00000082996		"""RING-type (C3HC4) zinc fingers"""	10057	protein-coding gene	gene with protein product		609247					Standard	NM_183381		Approved	RZF	uc003exp.4	O43567	OTTHUMG00000150338	ENST00000344229.3:c.32C>T	3.37:g.149563845C>T	ENSP00000341361:p.Ser11Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NC87|B3KR12|Q05D66|Q6IBJ9	Missense_Mutation	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.S11L	ENST00000344229.3	37	c.32	CCDS3146.1	3	.	.	.	.	.	.	.	.	.	.	C	21.1	4.096413	0.76870	.	.	ENSG00000082996	ENST00000392894;ENST00000344229;ENST00000470151;ENST00000466478;ENST00000543506;ENST00000468648;ENST00000459632;ENST00000466795;ENST00000482539;ENST00000490631	T;T;T;T;T;T;T;T	0.48201	3.67;3.67;0.82;2.47;2.88;2.88;0.84;2.88	5.56	5.56	0.83823	.	0.128558	0.53938	D	0.000042	T	0.32704	0.0838	N	0.12182	0.205	0.80722	D	1	B	0.14438	0.01	B	0.12156	0.007	T	0.06807	-1.0806	10	0.33940	T	0.23	-10.6979	16.8069	0.85708	0.0:1.0:0.0:0.0	.	11	O43567	RNF13_HUMAN	L	11	ENSP00000376628:S11L;ENSP00000341361:S11L;ENSP00000419836:S11L;ENSP00000420067:S11L;ENSP00000419069:S11L;ENSP00000417655:S11L;ENSP00000420691:S11L;ENSP00000417294:S11L	ENSP00000341361:S11L	S	+	2	0	RNF13	151046535	1.000000	0.71417	0.986000	0.45419	0.992000	0.81027	6.648000	0.74359	2.781000	0.95711	0.591000	0.81541	TCA	RNF13	-	NULL	ENSG00000082996		0.443	RNF13-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RNF13	HGNC	protein_coding	OTTHUMT00000356876.1	105	0.00	0	C	NM_183384		149563845	149563845	+1	no_errors	ENST00000344229	ensembl	human	known	69_37n	missense	92	31.34	42	SNP	0.999	T
RNF138	51444	genome.wustl.edu	37	18	29704794	29704794	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr18:29704794C>G	ENST00000261593.3	+	6	1005	c.547C>G	c.(547-549)Cag>Gag	p.Q183E	RP11-53I6.4_ENST00000583138.1_RNA|RNF138_ENST00000257190.5_Missense_Mutation_p.Q89E	NM_001191324.1|NM_016271.4	NP_001178253.2|NP_057355.2	Q8WVD3	RN138_HUMAN	ring finger protein 138, E3 ubiquitin protein ligase	183					protein ubiquitination (GO:0016567)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	ligase activity (GO:0016874)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						TCACCTATTTCAGATAGTTCC	0.363																																						dbGAP											0													134.0	124.0	127.0					18																	29704794		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF162680	CCDS11903.1, CCDS11904.1	18q12.1	2013-01-28	2012-02-23		ENSG00000134758	ENSG00000134758		"""RING-type (C3HC4) zinc fingers"""	17765	protein-coding gene	gene with protein product	"""nemo-like kinase associated ring finger protein"""		"""ring finger protein 138"""			22155992, 16714285	Standard	NM_016271		Approved	STRIN, NARF	uc021uip.2	Q8WVD3	OTTHUMG00000132265	ENST00000261593.3:c.547C>G	18.37:g.29704794C>G	ENSP00000261593:p.Gln183Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RE17|Q9H8K2|Q9UF87|Q9UKI6	Missense_Mutation	SNP	pfam_Znf_MIZ,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.Q183E	ENST00000261593.3	37	c.547	CCDS11903.1	18	.	.	.	.	.	.	.	.	.	.	C	13.55	2.271750	0.40194	.	.	ENSG00000134758	ENST00000261593;ENST00000257190	D	0.86694	-2.16	5.25	5.25	0.73442	Zinc finger, RING-type (1);	0.000000	0.64402	D	0.000001	D	0.82737	0.5102	L	0.38175	1.15	0.46113	D	0.998879	B;B	0.24576	0.106;0.01	B;B	0.20184	0.028;0.013	T	0.77787	-0.2457	10	0.31617	T	0.26	-11.0748	19.2178	0.93785	0.0:1.0:0.0:0.0	.	89;183	Q8WVD3-2;Q8WVD3	.;RN138_HUMAN	E	183;89	ENSP00000261593:Q183E	ENSP00000257190:Q89E	Q	+	1	0	RNF138	27958792	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.356000	0.52269	2.618000	0.88619	0.655000	0.94253	CAG	RNF138	-	smart_Znf_RING	ENSG00000134758		0.363	RNF138-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF138	HGNC	protein_coding	OTTHUMT00000255352.2	170	0.00	0	C	NM_016271		29704794	29704794	+1	no_errors	ENST00000261593	ensembl	human	known	69_37n	missense	62	27.91	24	SNP	1.000	G
TATDN1	83940	genome.wustl.edu	37	8	125498103	125498103	+	IGR	SNP	G	G	C	rs371078119		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:125498103G>C	ENST00000276692.6	-	0	1018				RP11-158K1.3_ENST00000518639.1_RNA|RNF139_ENST00000303545.3_Missense_Mutation_p.L71F	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1						DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TTCTGATCTTGTCACAACGAT	0.353																																						dbGAP											0													147.0	124.0	132.0					8																	125498103		2202	4299	6501	-	-	-	SO:0001628	intergenic_variant	0			AF212250	CCDS6351.1, CCDS55273.1	8q24.13	2004-06-07			ENSG00000147687	ENSG00000147687			24220	protein-coding gene	gene with protein product						12477932	Standard	NM_032026		Approved	CDA11	uc003yrd.2	Q6P1N9	OTTHUMG00000165068		8.37:g.125498103G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5J0|Q8TD02|Q9BY40	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING	p.L71F	ENST00000276692.6	37	c.213	CCDS6351.1	8	.	.	.	.	.	.	.	.	.	.	G	18.14	3.557792	0.65425	.	.	ENSG00000170881	ENST00000303545	T	0.59224	0.28	5.06	4.17	0.49024	.	0.000000	0.64402	D	0.000002	T	0.72827	0.3509	M	0.73962	2.25	0.54753	D	0.999983	D	0.89917	1.0	D	0.91635	0.999	T	0.75491	-0.3299	10	0.87932	D	0	-10.2891	10.6935	0.45886	0.146:0.0:0.854:0.0	.	71	Q8WU17	RN139_HUMAN	F	71	ENSP00000304051:L71F	ENSP00000304051:L71F	L	+	3	2	RNF139	125567284	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	1.585000	0.36600	2.501000	0.84356	0.650000	0.86243	TTG	RNF139	-	NULL	ENSG00000170881		0.353	TATDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF139	HGNC	protein_coding	OTTHUMT00000381655.1	137	0.00	0	G	NM_032026		125498103	125498103	+1	no_errors	ENST00000303545	ensembl	human	known	69_37n	missense	75	60.94	117	SNP	1.000	C
TATDN1	83940	genome.wustl.edu	37	8	125498340	125498340	+	IGR	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:125498340C>G	ENST00000276692.6	-	0	1018				RP11-158K1.3_ENST00000518639.1_RNA|RNF139_ENST00000303545.3_Missense_Mutation_p.I150M	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1						DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TTCATTCCATCTATTCACAAT	0.398																																						dbGAP											0													114.0	108.0	110.0					8																	125498340		2203	4300	6503	-	-	-	SO:0001628	intergenic_variant	0			AF212250	CCDS6351.1, CCDS55273.1	8q24.13	2004-06-07			ENSG00000147687	ENSG00000147687			24220	protein-coding gene	gene with protein product						12477932	Standard	NM_032026		Approved	CDA11	uc003yrd.2	Q6P1N9	OTTHUMG00000165068		8.37:g.125498340C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5J0|Q8TD02|Q9BY40	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING	p.I150M	ENST00000276692.6	37	c.450	CCDS6351.1	8	.	.	.	.	.	.	.	.	.	.	C	8.833	0.940406	0.18281	.	.	ENSG00000170881	ENST00000303545;ENST00000517684	T	0.26660	1.72	5.34	4.4	0.53042	.	0.380726	0.25584	N	0.029673	T	0.18173	0.0436	L	0.38175	1.15	0.36058	D	0.841238	B	0.30068	0.267	B	0.27380	0.079	T	0.11743	-1.0575	10	0.36615	T	0.2	-1.7626	8.4726	0.32995	0.2171:0.6456:0.1373:0.0	.	150	Q8WU17	RN139_HUMAN	M	150;23	ENSP00000304051:I150M	ENSP00000304051:I150M	I	+	3	3	RNF139	125567521	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	1.370000	0.34238	2.642000	0.89623	0.650000	0.86243	ATC	RNF139	-	NULL	ENSG00000170881		0.398	TATDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF139	HGNC	protein_coding	OTTHUMT00000381655.1	115	0.00	0	C	NM_032026		125498340	125498340	+1	no_errors	ENST00000303545	ensembl	human	known	69_37n	missense	144	14.79	25	SNP	1.000	G
RNF14	9604	genome.wustl.edu	37	5	141354446	141354446	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:141354446G>C	ENST00000394520.2	+	4	541	c.232G>C	c.(232-234)Gaa>Caa	p.E78Q	RNF14_ENST00000394514.2_Intron|RNF14_ENST00000347642.3_Missense_Mutation_p.E78Q|RNF14_ENST00000502341.1_Intron|RNF14_ENST00000394515.3_Missense_Mutation_p.E78Q|RNF14_ENST00000540015.1_Intron|AC005740.5_ENST00000520882.1_RNA|RNF14_ENST00000356143.1_Missense_Mutation_p.E78Q|RNF14_ENST00000394519.1_Missense_Mutation_p.E78Q	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	ring finger protein 14	78	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.				androgen receptor signaling pathway (GO:0030521)|positive regulation of transcription, DNA-templated (GO:0045893)|protein ubiquitination (GO:0016567)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|small conjugating protein ligase activity (GO:0019787)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		GCTGAACTTTGAACTGCCACC	0.413																																						dbGAP											0													181.0	160.0	167.0					5																	141354446		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF060544	CCDS4270.1, CCDS4271.1	5q23.3-q31.1	2008-02-05			ENSG00000013561	ENSG00000013561		"""RING-type (C3HC4) zinc fingers"""	10058	protein-coding gene	gene with protein product		605675				10085091, 10320776	Standard	NM_183399		Approved	ARA54, HFB30, TRIAD2	uc003lmc.3	Q9UBS8	OTTHUMG00000129660	ENST00000394520.2:c.232G>C	5.37:g.141354446G>C	ENSP00000378028:p.Glu78Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV26|A6NMR2|A8MTW5|B3KN72|B7ZLV2|D3DQE4|O94793|Q6IBV0	Missense_Mutation	SNP	pfam_RWD-domain,pfam_Znf_C6HC,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,smart_Znf_C6HC,pfscan_RWD-domain,pfscan_Znf_RING	p.E78Q	ENST00000394520.2	37	c.232	CCDS4270.1	5	.	.	.	.	.	.	.	.	.	.	G	21.1	4.095124	0.76870	.	.	ENSG00000013561	ENST00000511961;ENST00000506822;ENST00000513019;ENST00000356143;ENST00000394520;ENST00000347642;ENST00000506938;ENST00000394515;ENST00000507163;ENST00000394519	T;T;T;T;T;T;T;T;T;T	0.22336	1.96;1.96;1.96;1.96;1.96;1.96;1.96;1.96;1.96;1.96	5.87	5.87	0.94306	Ubiquitin-conjugating enzyme/RWD-like (2);RWD domain (3);	0.045006	0.85682	D	0.000000	T	0.41971	0.1182	L	0.52905	1.665	0.80722	D	1	D;B	0.76494	0.999;0.256	D;B	0.68943	0.961;0.241	T	0.02173	-1.1201	10	0.19147	T	0.46	.	20.2084	0.98285	0.0:0.0:1.0:0.0	.	78;78	B7Z229;Q9UBS8	.;RNF14_HUMAN	Q	78	ENSP00000423420:E78Q;ENSP00000423273:E78Q;ENSP00000421780:E78Q;ENSP00000348462:E78Q;ENSP00000378028:E78Q;ENSP00000324956:E78Q;ENSP00000420837:E78Q;ENSP00000378023:E78Q;ENSP00000422527:E78Q;ENSP00000378027:E78Q	ENSP00000324956:E78Q	E	+	1	0	RNF14	141334630	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.795000	0.99099	2.774000	0.95407	0.650000	0.86243	GAA	RNF14	-	pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pfscan_RWD-domain	ENSG00000013561		0.413	RNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF14	HGNC	protein_coding	OTTHUMT00000251860.2	162	0.00	0	G	NM_004290		141354446	141354446	+1	no_errors	ENST00000347642	ensembl	human	known	69_37n	missense	113	25.17	38	SNP	1.000	C
RNF145	153830	genome.wustl.edu	37	5	158601064	158601064	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:158601064G>A	ENST00000424310.2	-	6	1083	c.724C>T	c.(724-726)Cag>Tag	p.Q242*	RNF145_ENST00000519865.1_Nonsense_Mutation_p.Q242*|RNF145_ENST00000274542.2_Nonsense_Mutation_p.Q270*|RNF145_ENST00000521606.2_Nonsense_Mutation_p.Q259*|RNF145_ENST00000520638.1_Nonsense_Mutation_p.Q256*|RNF145_ENST00000518802.1_Nonsense_Mutation_p.Q272*	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	242						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAGTAAATCTGAAGAGCAAAT	0.428																																						dbGAP											0													65.0	60.0	62.0					5																	158601064		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC042684	CCDS4344.1, CCDS56390.1, CCDS56391.1, CCDS56392.1, CCDS56393.1	5q33.3	2013-01-09			ENSG00000145860	ENSG00000145860		"""RING-type (C3HC4) zinc fingers"""	20853	protein-coding gene	gene with protein product							Standard	NM_001199380		Approved	FLJ31951	uc003lxo.2	Q96MT1	OTTHUMG00000130306	ENST00000424310.2:c.724C>T	5.37:g.158601064G>A	ENSP00000409064:p.Gln242*	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z903|B7Z949|E7EVI7|Q8IVP7	Nonsense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING	p.Q270*	ENST00000424310.2	37	c.808	CCDS56390.1	5	.	.	.	.	.	.	.	.	.	.	G	42	9.346295	0.99143	.	.	ENSG00000145860	ENST00000274542;ENST00000519865;ENST00000424310;ENST00000521606;ENST00000413445;ENST00000518802;ENST00000535312;ENST00000520638	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-11.6998	19.7531	0.96277	0.0:0.0:1.0:0.0	.	.	.	.	X	270;242;242;258;259;272;242;256	.	ENSP00000274542:Q270X	Q	-	1	0	RNF145	158533642	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.753000	0.94483	0.557000	0.71058	CAG	RNF145	-	NULL	ENSG00000145860		0.428	RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RNF145	HGNC	protein_coding	OTTHUMT00000374048.1	60	0.00	0	G	NM_144726		158601064	158601064	-1	no_errors	ENST00000274542	ensembl	human	known	69_37n	nonsense	23	50.00	23	SNP	1.000	A
RNF149	284996	genome.wustl.edu	37	2	101911596	101911596	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:101911596C>G	ENST00000295317.3	-	2	615	c.508G>C	c.(508-510)Gaa>Caa	p.E170Q		NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN	ring finger protein 149	170	PA.				cellular response to drug (GO:0035690)|negative regulation of MAPK cascade (GO:0043409)|regulation of protein stability (GO:0031647)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						TCCAAAATTTCTCTTCCTTTT	0.413																																					Colon(25;331 612 6521 7355 31028)	dbGAP											0													129.0	120.0	123.0					2																	101911596		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074985	CCDS2051.1	2q12.1	2013-01-09			ENSG00000163162	ENSG00000163162		"""RING-type (C3HC4) zinc fingers"""	23137	protein-coding gene	gene with protein product							Standard	NM_173647		Approved	FLJ90504	uc002taz.2	Q8NC42	OTTHUMG00000130685	ENST00000295317.3:c.508G>C	2.37:g.101911596C>G	ENSP00000295317:p.Glu170Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53S14|Q8N5I8|Q8NBY5|Q8WUU3	Missense_Mutation	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.E170Q	ENST00000295317.3	37	c.508	CCDS2051.1	2	.	.	.	.	.	.	.	.	.	.	C	26.3	4.725551	0.89298	.	.	ENSG00000163162	ENST00000295317	T	0.07327	3.2	5.33	5.33	0.75918	Protease-associated domain, PA (1);	0.000000	0.64402	D	0.000007	T	0.25457	0.0619	L	0.50333	1.59	0.58432	D	0.999997	D	0.76494	0.999	D	0.69824	0.966	T	0.00373	-1.1781	10	0.87932	D	0	.	19.0467	0.93022	0.0:1.0:0.0:0.0	.	170	Q8NC42	RN149_HUMAN	Q	170	ENSP00000295317:E170Q	ENSP00000295317:E170Q	E	-	1	0	RNF149	101278028	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	7.664000	0.83830	2.490000	0.84030	0.591000	0.81541	GAA	RNF149	-	pfam_Protease-assoc_domain	ENSG00000163162		0.413	RNF149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF149	HGNC	protein_coding	OTTHUMT00000253180.2	97	0.00	0	C	NM_173647		101911596	101911596	-1	no_errors	ENST00000295317	ensembl	human	known	69_37n	missense	95	18.10	21	SNP	1.000	G
RNF169	254225	genome.wustl.edu	37	11	74546613	74546613	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:74546613C>G	ENST00000299563.4	+	6	978	c.965C>G	c.(964-966)tCc>tGc	p.S322C		NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169	322					cellular response to DNA damage stimulus (GO:0006974)|negative regulation of double-strand break repair (GO:2000780)|protein ubiquitination (GO:0016567)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|site of double-strand break (GO:0035861)	K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						ACTCCAGCCTCCAACCCCATC	0.443																																						dbGAP											0													76.0	79.0	78.0					11																	74546613		2004	4162	6166	-	-	-	SO:0001583	missense	0			AB082522	CCDS41691.1	11q13.4	2008-02-05			ENSG00000166439	ENSG00000166439		"""RING-type (C3HC4) zinc fingers"""	26961	protein-coding gene	gene with protein product						12056414	Standard	NM_001098638		Approved	KIAA1991	uc001ovl.4	Q8NCN4	OTTHUMG00000165516	ENST00000299563.4:c.965C>G	11.37:g.74546613C>G	ENSP00000299563:p.Ser322Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6N015	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.S322C	ENST00000299563.4	37	c.965	CCDS41691.1	11	.	.	.	.	.	.	.	.	.	.	C	15.28	2.786240	0.49997	.	.	ENSG00000166439	ENST00000299563	T	0.53423	0.62	5.52	4.6	0.57074	.	0.160399	0.56097	D	0.000026	T	0.66247	0.2770	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.68192	0.956	T	0.70077	-0.4971	10	0.62326	D	0.03	-23.7851	12.9725	0.58520	0.0:0.6888:0.3112:0.0	.	322	Q8NCN4	RN169_HUMAN	C	322	ENSP00000299563:S322C	ENSP00000299563:S322C	S	+	2	0	RNF169	74224261	0.832000	0.29368	1.000000	0.80357	0.958000	0.62258	2.472000	0.45136	1.459000	0.47892	0.655000	0.94253	TCC	RNF169	-	NULL	ENSG00000166439		0.443	RNF169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF169	HGNC	protein_coding	OTTHUMT00000384741.1	57	0.00	0	C	XM_495886		74546613	74546613	+1	no_errors	ENST00000299563	ensembl	human	known	69_37n	missense	27	59.70	40	SNP	1.000	G
RNF17	56163	genome.wustl.edu	37	13	25440294	25440294	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr13:25440294G>T	ENST00000255324.5	+	30	4166	c.4114G>T	c.(4114-4116)Gat>Tat	p.D1372Y	RNF17_ENST00000381921.1_Missense_Mutation_p.D1330Y|RNF17_ENST00000339524.3_Missense_Mutation_p.D382Y	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1372					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)		ACCAAGATCAGATCATGATAA	0.318																																						dbGAP											0													100.0	99.0	100.0					13																	25440294		2203	4295	6498	-	-	-	SO:0001583	missense	0			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.4114G>T	13.37:g.25440294G>T	ENSP00000255324:p.Asp1372Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor,pfscan_Znf_RING	p.D1372Y	ENST00000255324.5	37	c.4114	CCDS9308.2	13	.	.	.	.	.	.	.	.	.	.	G	13.14	2.147519	0.37923	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000418120;ENST00000339524	T;T;T;T	0.25579	3.48;3.45;2.68;1.79	4.74	3.89	0.44902	.	0.394487	0.24307	N	0.039680	T	0.32645	0.0836	L	0.44542	1.39	0.80722	D	1	P;P;D;P	0.54964	0.956;0.906;0.969;0.925	P;B;P;B	0.55999	0.459;0.272;0.789;0.438	T	0.03673	-1.1014	10	0.51188	T	0.08	-5.9035	8.5767	0.33603	0.104:0.0:0.896:0.0	.	1368;382;1366;1372	B7Z7S1;Q5T6R1;Q9BXT8-5;Q9BXT8	.;.;.;RNF17_HUMAN	Y	1372;1330;696;382	ENSP00000255324:D1372Y;ENSP00000371346:D1330Y;ENSP00000388892:D696Y;ENSP00000344776:D382Y	ENSP00000255324:D1372Y	D	+	1	0	RNF17	24338294	0.832000	0.29368	0.901000	0.35422	0.559000	0.35586	0.910000	0.28571	1.363000	0.46019	0.561000	0.74099	GAT	RNF17	-	NULL	ENSG00000132972		0.318	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF17	HGNC	protein_coding	OTTHUMT00000044217.1	82	0.00	0	G	NM_031994		25440294	25440294	+1	no_errors	ENST00000255324	ensembl	human	known	69_37n	missense	32	44.83	26	SNP	0.951	T
RNF2	6045	genome.wustl.edu	37	1	185067212	185067212	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:185067212G>A	ENST00000367510.3	+	5	761	c.473G>A	c.(472-474)cGa>cAa	p.R158Q	RNF2_ENST00000367509.4_Missense_Mutation_p.R86Q	NM_007212.3	NP_009143.1	Q99496	RING2_HUMAN	ring finger protein 2	158	Interaction with HIP2.				anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|large_intestine(4)|lung(3)|skin(2)	14		Breast(1374;0.000496)		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)		AGACTGCAGCGAGGCAAGAAA	0.403																																						dbGAP											0													93.0	82.0	86.0					1																	185067212		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC012583, Y10571	CCDS1365.1	1q25.3	2013-01-09			ENSG00000121481	ENSG00000121481		"""RING-type (C3HC4) zinc fingers"""	10061	protein-coding gene	gene with protein product		608985				11513855	Standard	XM_005245413		Approved	BAP-1, BAP1, DING, HIPI3, RING1B, RING2	uc001grc.1	Q99496	OTTHUMG00000035391	ENST00000367510.3:c.473G>A	1.37:g.185067212G>A	ENSP00000356480:p.Arg158Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.R158Q	ENST00000367510.3	37	c.473	CCDS1365.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.516609	0.96402	.	.	ENSG00000121481	ENST00000367510;ENST00000367509;ENST00000453650	T;T	0.21543	2.0;2.0	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.43077	0.1231	M	0.61703	1.905	0.21473	N	0.999675	D;D	0.69078	0.997;0.985	D;P	0.70227	0.968;0.726	T	0.36359	-0.9751	10	0.20046	T	0.44	-13.4642	18.8053	0.92034	0.0:0.0:1.0:0.0	.	86;158	B3KRH1;Q99496	.;RING2_HUMAN	Q	158;86;158	ENSP00000356480:R158Q;ENSP00000400722:R158Q	ENSP00000356479:R86Q	R	+	2	0	RNF2	183333835	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.154000	0.94694	2.423000	0.82170	0.655000	0.94253	CGA	RNF2	-	NULL	ENSG00000121481		0.403	RNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF2	HGNC	protein_coding	OTTHUMT00000085793.1	51	0.00	0	G	NM_007212		185067212	185067212	+1	no_errors	ENST00000367510	ensembl	human	known	69_37n	missense	49	35.53	27	SNP	1.000	A
RNF213	57674	genome.wustl.edu	37	17	78363039	78363039	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:78363039G>A	ENST00000582970.1	+	65	15210	c.15067G>A	c.(15067-15069)Gaa>Aaa	p.E5023K	RNF213_ENST00000427003.3_3'UTR|CTD-2047H16.4_ENST00000573394.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.E5072K|RNF213_ENST00000336301.6_Missense_Mutation_p.E3096K	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	5023					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CGATGCCTGTGAAGTGCTGTC	0.522																																						dbGAP											0													138.0	122.0	127.0					17																	78363039		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.15067G>A	17.37:g.78363039G>A	ENSP00000464087:p.Glu5023Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.E5023K	ENST00000582970.1	37	c.15067	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	G	16.20	3.056118	0.55325	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301;ENST00000427003	T	0.25579	1.79	5.39	4.42	0.53409	.	0.124753	0.52532	N	0.000080	T	0.26011	0.0634	L	0.56769	1.78	0.38396	D	0.945546	B;B	0.34255	0.445;0.074	B;B	0.29440	0.102;0.03	T	0.13602	-1.0503	10	0.52906	T	0.07	.	14.2245	0.65850	0.0719:0.0:0.9281:0.0	.	5023;3096	D6RI12;Q63HN8	.;RN213_HUMAN	K	5023;5072;3096;373	ENSP00000338218:E3096K	ENSP00000338218:E3096K	E	+	1	0	RNF213	75977634	1.000000	0.71417	0.965000	0.40720	0.377000	0.30045	7.178000	0.77657	1.269000	0.44280	0.655000	0.94253	GAA	RNF213	-	NULL	ENSG00000173821		0.522	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	95	0.00	0	G	NM_020914		78363039	78363039	+1	no_errors	ENST00000582970	ensembl	human	known	69_37n	missense	67	30.93	30	SNP	1.000	A
RNF217	154214	genome.wustl.edu	37	6	125366417	125366417	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:125366417G>A	ENST00000521654.2	+	2	943	c.943G>A	c.(943-945)Gaa>Aaa	p.E315K	RNF217_ENST00000560949.1_Missense_Mutation_p.E80K|RNF217_ENST00000359704.2_Missense_Mutation_p.E23K|RNF217_ENST00000275184.6_5'Flank|RNF217_ENST00000368414.2_5'UTR|RNF217_ENST00000454842.2_3'UTR			Q8TC41	RN217_HUMAN	ring finger protein 217	315					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		ATTCTTGGAAGAAACAACTGT	0.418																																						dbGAP											0													110.0	101.0	104.0					6																	125366417		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC026087	CCDS5129.1, CCDS69191.1	6q22.33	2014-07-15	2007-08-20	2007-08-20	ENSG00000146373	ENSG00000146373		"""RING-type (C3HC4) zinc fingers"""	21487	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 172"", ""IBR domain containing 1"""	C6orf172, IBRDC1			Standard	NM_001286398		Approved	MGC26996, dJ84N20.1	uc003pzs.3	Q8TC41	OTTHUMG00000015504	ENST00000521654.2:c.943G>A	6.37:g.125366417G>A	ENSP00000428698:p.Glu315Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	H7C5V4|Q5TCA4|Q9BX48	Missense_Mutation	SNP	pfam_Znf_C6HC,smart_Znf_C6HC	p.E80K	ENST00000521654.2	37	c.238		6	.	.	.	.	.	.	.	.	.	.	G	22.0	4.225135	0.79576	.	.	ENSG00000146373	ENST00000521654;ENST00000359704	T	0.47869	0.83	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.29491	0.0735	L	0.32530	0.975	0.80722	D	1	B;B	0.16603	0.011;0.018	B;B	0.18871	0.023;0.008	T	0.03597	-1.1021	10	0.33940	T	0.23	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	23;80	Q8TC41;F2Z2M4	RN217_HUMAN;.	K	80;23	ENSP00000352734:E23K	ENSP00000352734:E23K	E	+	1	0	RNF217	125408116	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.945000	0.75947	2.941000	0.99782	0.655000	0.94253	GAA	RNF217	-	NULL	ENSG00000146373		0.418	RNF217-002	NOVEL	basic|appris_principal	protein_coding	RNF217	HGNC	protein_coding	OTTHUMT00000042063.3	100	0.00	0	G	NM_152553		125366417	125366417	+1	no_errors	ENST00000560949	ensembl	human	known	69_37n	missense	51	25.00	17	SNP	1.000	A
RNF219	79596	genome.wustl.edu	37	13	79191224	79191224	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr13:79191224G>C	ENST00000282003.6	-	6	730	c.672C>G	c.(670-672)tcC>tcG	p.S224S	RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606429.1_RNA	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	224							zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		GTTCTACTTTGGACTGAAGAG	0.393																																						dbGAP											0													85.0	83.0	83.0					13																	79191224		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC028586	CCDS31997.1	13q31.1	2011-05-23	2008-03-26	2008-03-26	ENSG00000152193	ENSG00000152193		"""RING-type (C3HC4) zinc fingers"""	20308	protein-coding gene	gene with protein product		615906	"""chromosome 13 open reading frame 7"""	C13orf7			Standard	XM_006719865		Approved	FLJ13449	uc001vkw.1	Q5W0B1	OTTHUMG00000017122	ENST00000282003.6:c.672C>G	13.37:g.79191224G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RN99|Q8TBY2|Q9H0T2|Q9H8M0	Silent	SNP	pfscan_Znf_RING	p.S224	ENST00000282003.6	37	c.672	CCDS31997.1	13																																																																																			RNF219	-	NULL	ENSG00000152193		0.393	RNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF219	HGNC	protein_coding	OTTHUMT00000045363.1	87	0.00	0	G	NM_024546		79191224	79191224	-1	no_errors	ENST00000282003	ensembl	human	known	69_37n	silent	67	24.72	22	SNP	1.000	C
RNF219	79596	genome.wustl.edu	37	13	79212993	79212993	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr13:79212993C>G	ENST00000282003.6	-	4	572	c.514G>C	c.(514-516)Gaa>Caa	p.E172Q		NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	172							zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		TTCACTTTTTCATAGATTTCA	0.303																																						dbGAP											0													156.0	150.0	152.0					13																	79212993		2202	4300	6502	-	-	-	SO:0001583	missense	0			BC028586	CCDS31997.1	13q31.1	2011-05-23	2008-03-26	2008-03-26	ENSG00000152193	ENSG00000152193		"""RING-type (C3HC4) zinc fingers"""	20308	protein-coding gene	gene with protein product		615906	"""chromosome 13 open reading frame 7"""	C13orf7			Standard	XM_006719865		Approved	FLJ13449	uc001vkw.1	Q5W0B1	OTTHUMG00000017122	ENST00000282003.6:c.514G>C	13.37:g.79212993C>G	ENSP00000282003:p.Glu172Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RN99|Q8TBY2|Q9H0T2|Q9H8M0	Missense_Mutation	SNP	pfscan_Znf_RING	p.E172Q	ENST00000282003.6	37	c.514	CCDS31997.1	13	.	.	.	.	.	.	.	.	.	.	C	21.3	4.124996	0.77436	.	.	ENSG00000152193	ENST00000282003	.	.	.	5.71	5.71	0.89125	.	0.225087	0.46758	D	0.000275	T	0.59905	0.2228	L	0.32530	0.975	0.34148	D	0.667144	D	0.89917	1.0	D	0.66084	0.941	T	0.69300	-0.5181	9	0.54805	T	0.06	-3.0E-4	13.1	0.59214	0.0:0.9269:0.0:0.0731	.	172	Q5W0B1	RN219_HUMAN	Q	172	.	ENSP00000282003:E172Q	E	-	1	0	RNF219	78110994	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.146000	0.58072	2.688000	0.91661	0.655000	0.94253	GAA	RNF219	-	NULL	ENSG00000152193		0.303	RNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF219	HGNC	protein_coding	OTTHUMT00000045363.1	288	0.00	0	C	NM_024546		79212993	79212993	-1	no_errors	ENST00000282003	ensembl	human	known	69_37n	missense	236	20.20	60	SNP	1.000	G
RNF219	79596	genome.wustl.edu	37	13	79216331	79216331	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr13:79216331C>T	ENST00000282003.6	-	3	284	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K		NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	76							zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		AGCATAGGTTCACTTTCACTT	0.313																																						dbGAP											0													142.0	139.0	140.0					13																	79216331		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC028586	CCDS31997.1	13q31.1	2011-05-23	2008-03-26	2008-03-26	ENSG00000152193	ENSG00000152193		"""RING-type (C3HC4) zinc fingers"""	20308	protein-coding gene	gene with protein product		615906	"""chromosome 13 open reading frame 7"""	C13orf7			Standard	XM_006719865		Approved	FLJ13449	uc001vkw.1	Q5W0B1	OTTHUMG00000017122	ENST00000282003.6:c.226G>A	13.37:g.79216331C>T	ENSP00000282003:p.Glu76Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RN99|Q8TBY2|Q9H0T2|Q9H8M0	Missense_Mutation	SNP	pfscan_Znf_RING	p.E76K	ENST00000282003.6	37	c.226	CCDS31997.1	13	.	.	.	.	.	.	.	.	.	.	C	22.7	4.321159	0.81580	.	.	ENSG00000152193	ENST00000282003	.	.	.	5.61	5.61	0.85477	.	0.149916	0.64402	D	0.000017	T	0.33644	0.0870	N	0.14661	0.345	0.45883	D	0.998737	P	0.49090	0.919	B	0.42692	0.395	T	0.12578	-1.0542	9	0.39692	T	0.17	-4.2226	13.8821	0.63688	0.0:0.9273:0.0:0.0727	.	76	Q5W0B1	RN219_HUMAN	K	76	.	ENSP00000282003:E76K	E	-	1	0	RNF219	78114332	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.463000	0.60128	2.646000	0.89796	0.563000	0.77884	GAA	RNF219	-	NULL	ENSG00000152193		0.313	RNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF219	HGNC	protein_coding	OTTHUMT00000045363.1	171	0.00	0	C	NM_024546		79216331	79216331	-1	no_errors	ENST00000282003	ensembl	human	known	69_37n	missense	103	35.62	57	SNP	1.000	T
RNF31	55072	genome.wustl.edu	37	14	24626762	24626762	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:24626762C>T	ENST00000324103.6	+	16	2962	c.2642C>T	c.(2641-2643)gCc>gTc	p.A881V	RNF31_ENST00000559275.1_Missense_Mutation_p.A730V|RP11-468E2.4_ENST00000558468.1_Missense_Mutation_p.A356V|RNF31_ENST00000382687.3_Missense_Mutation_p.A730V|RNA5SP383_ENST00000362934.1_RNA	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	881					CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		TACGCCCTGGCCCGAGGAGGC	0.582																																						dbGAP											0													98.0	105.0	103.0					14																	24626762		2074	4215	6289	-	-	-	SO:0001583	missense	0			AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"""RING-type (C3HC4) zinc fingers"""	16031	protein-coding gene	gene with protein product	"""HOIL-1-interacting protein"""	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.2642C>T	14.37:g.24626762C>T	ENSP00000315112:p.Ala881Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Missense_Mutation	SNP	pfam_PUB_domain,pfam_Znf_C6HC,superfamily_UBA-like,superfamily_DEATH-like,superfamily_Znf_FYVE_PHD,smart_Znf_RanBP2,smart_Znf_C6HC,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RanBP2	p.A881V	ENST00000324103.6	37	c.2642	CCDS41931.1	14	.	.	.	.	.	.	.	.	.	.	C	34	5.335695	0.95758	.	.	ENSG00000092098	ENST00000382682;ENST00000324103;ENST00000382687	T;T	0.79454	-1.27;-1.27	5.45	5.45	0.79879	Zinc finger, C6HC-type (1);Zinc finger, RING-type (1);	0.128894	0.52532	D	0.000072	D	0.86851	0.6032	M	0.62723	1.935	0.58432	D	0.999995	D;D;D;D	0.76494	0.999;0.998;0.991;0.995	D;D;P;P	0.80764	0.994;0.93;0.787;0.894	D	0.87240	0.2266	10	0.72032	D	0.01	-16.7474	18.2333	0.89941	0.0:1.0:0.0:0.0	.	881;640;881;730	A0A962;B3KV71;Q96EP0;Q96EP0-3	.;.;RNF31_HUMAN;.	V	314;881;730	ENSP00000315112:A881V;ENSP00000372134:A730V	ENSP00000315112:A881V	A	+	2	0	RNF31	23696602	1.000000	0.71417	1.000000	0.80357	0.721000	0.41392	6.726000	0.74758	2.835000	0.97688	0.650000	0.86243	GCC	RNF31	-	smart_Znf_C6HC	ENSG00000092098		0.582	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF31	HGNC	protein_coding	OTTHUMT00000071921.3	68	0.00	0	C	NM_017999		24626762	24626762	+1	no_errors	ENST00000324103	ensembl	human	known	69_37n	missense	42	39.13	27	SNP	1.000	T
RNF34	80196	genome.wustl.edu	37	12	121858422	121858422	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:121858422G>C	ENST00000392464.2	+	5	838	c.769G>C	c.(769-771)Gac>Cac	p.D257H	RNF34_ENST00000555076.1_Intron|RNF34_ENST00000392465.3_Missense_Mutation_p.D258H|RNF34_ENST00000361234.5_Missense_Mutation_p.D257H					ring finger protein 34, E3 ubiquitin protein ligase											breast(1)|large_intestine(1)	2	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233)		TTCACTGTCTGACTTGTCAAG	0.507																																						dbGAP											0													95.0	97.0	97.0					12																	121858422		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF306709, AB084914	CCDS9221.1, CCDS31915.1, CCDS73538.1	12q24.31	2012-02-23	2012-02-23			ENSG00000170633		"""RING-type (C3HC4) zinc fingers"""	17297	protein-coding gene	gene with protein product		608299	"""ring finger protein 34"""			12118383	Standard	NM_025126		Approved	RIFF, FLJ21786, RIF	uc001ual.2	Q969K3		ENST00000392464.2:c.769G>C	12.37:g.121858422G>C	ENSP00000376257:p.Asp257His	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD,smart_Znf_RING,pfscan_Znf_RING	p.D258H	ENST00000392464.2	37	c.772		12	.	.	.	.	.	.	.	.	.	.	G	17.02	3.282654	0.59867	.	.	ENSG00000170633	ENST00000361234;ENST00000392465;ENST00000392464;ENST00000354795	T;T;T	0.55588	0.6;0.61;0.51	6.07	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.75722	0.3888	M	0.83118	2.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.80645	-0.1290	10	0.87932	D	0	-25.4539	17.405	0.87471	0.0:0.1247:0.8753:0.0	.	257;258	Q969K3;Q969K3-2	RNF34_HUMAN;.	H	257;258;257;258	ENSP00000355137:D257H;ENSP00000376258:D258H;ENSP00000376257:D257H	ENSP00000346850:D258H	D	+	1	0	RNF34	120342805	1.000000	0.71417	0.996000	0.52242	0.204000	0.24138	9.321000	0.96353	1.560000	0.49568	-0.175000	0.13238	GAC	RNF34	-	NULL	ENSG00000170633		0.507	RNF34-005	PUTATIVE	basic|exp_conf	protein_coding	RNF34	HGNC	protein_coding	OTTHUMT00000413892.1	59	0.00	0	G	NM_194271		121858422	121858422	+1	no_errors	ENST00000392465	ensembl	human	known	69_37n	missense	54	18.18	12	SNP	1.000	C
RNF40	9810	genome.wustl.edu	37	16	30775646	30775646	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:30775646G>C	ENST00000324685.6	+	5	1024	c.589G>C	c.(589-591)Gag>Cag	p.E197Q	C16orf93_ENST00000543610.1_5'Flank|C16orf93_ENST00000541260.1_5'Flank|RNF40_ENST00000357890.5_Missense_Mutation_p.E197Q|RNF40_ENST00000402121.3_Intron|C16orf93_ENST00000545825.1_5'Flank|RNF40_ENST00000563683.1_Missense_Mutation_p.E197Q	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	197					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			TCGTGTGGTAGAGGCCTCAGA	0.612																																						dbGAP											0													81.0	67.0	72.0					16																	30775646		2197	4300	6497	-	-	-	SO:0001583	missense	0			AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"""RING-type (C3HC4) zinc fingers"""	16867	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"""	607700	"""ring finger protein 40"""			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.589G>C	16.37:g.30775646G>C	ENSP00000325677:p.Glu197Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.E197Q	ENST00000324685.6	37	c.589	CCDS10691.1	16	.	.	.	.	.	.	.	.	.	.	G	12.18	1.859537	0.32884	.	.	ENSG00000103549	ENST00000324685;ENST00000357890;ENST00000452273	T;T	0.29397	1.6;1.57	5.54	5.54	0.83059	.	0.280271	0.38436	N	0.001681	T	0.29556	0.0737	N	0.16790	0.44	0.80722	D	1	P;D;D	0.64830	0.939;0.994;0.994	P;P;P	0.54706	0.565;0.656;0.759	T	0.01416	-1.1360	10	0.05721	T	0.95	-34.7635	18.4191	0.90582	0.0:0.0:1.0:0.0	.	197;197;197	O75150-4;A8K6K1;O75150	.;.;BRE1B_HUMAN	Q	197;197;46	ENSP00000325677:E197Q;ENSP00000350563:E197Q	ENSP00000325677:E197Q	E	+	1	0	RNF40	30683147	1.000000	0.71417	0.988000	0.46212	0.988000	0.76386	3.706000	0.54830	2.884000	0.98904	0.655000	0.94253	GAG	RNF40	-	NULL	ENSG00000103549		0.612	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF40	HGNC	protein_coding	OTTHUMT00000255524.2	61	0.00	0	G	NM_014771		30775646	30775646	+1	no_errors	ENST00000324685	ensembl	human	known	69_37n	missense	60	21.79	17	SNP	0.987	C
RNF41	10193	genome.wustl.edu	37	12	56601468	56601468	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:56601468C>T	ENST00000345093.4	-	6	933	c.564G>A	c.(562-564)caG>caA	p.Q188Q	RNF41_ENST00000552244.1_Silent_p.Q188Q|RNF41_ENST00000552656.1_Silent_p.Q188Q|RNF41_ENST00000394013.2_Silent_p.Q117Q	NM_005785.3|NM_194359.2	NP_005776.1|NP_919340.1	Q9H4P4	RNF41_HUMAN	ring finger protein 41, E3 ubiquitin protein ligase	188					extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|proteasomal protein catabolic process (GO:0010498)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|regulation of establishment of cell polarity (GO:2000114)|regulation of lymphocyte differentiation (GO:0045619)|regulation of MAPK cascade (GO:0043408)|regulation of myeloid cell differentiation (GO:0045637)|regulation of protein kinase B signaling (GO:0051896)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytosol (GO:0005829)	acid-amino acid ligase activity (GO:0016881)|protein tag (GO:0031386)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	11						CCTCCAGGTTCTGAAGGTTGG	0.478																																						dbGAP											0													281.0	238.0	253.0					12																	56601468		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF077599	CCDS8909.1, CCDS8910.1	12q13.13	2014-03-24	2014-03-24		ENSG00000181852	ENSG00000181852		"""RING-type (C3HC4) zinc fingers"""	18401	protein-coding gene	gene with protein product			"""ring finger protein 41"""				Standard	NM_005785		Approved	SBBI03, NRDP1	uc001skg.2	Q9H4P4	OTTHUMG00000170328	ENST00000345093.4:c.564G>A	12.37:g.56601468C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFW0|B2RBT8|O75598	Silent	SNP	pfam_USP8_interacting,pfam_Znf_C3HC4_RING-type,pfam_Ubox_domain,superfamily_TRAF-like,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SIAH	p.Q188	ENST00000345093.4	37	c.564	CCDS8909.1	12																																																																																			RNF41	-	pfam_USP8_interacting	ENSG00000181852		0.478	RNF41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF41	HGNC	protein_coding	OTTHUMT00000408525.1	147	0.00	0	C	NM_005785		56601468	56601468	-1	no_errors	ENST00000345093	ensembl	human	known	69_37n	silent	185	13.15	28	SNP	1.000	T
RNF7	9616	genome.wustl.edu	37	3	141464118	141464118	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:141464118G>A	ENST00000273480.3	+	3	479	c.341G>A	c.(340-342)tGa>tAa	p.*114*	RNF7_ENST00000393000.3_3'UTR|RNF7_ENST00000480908.1_Silent_p.*98*	NM_014245.4|NM_183237.2	NP_055060.1|NP_899060.1	Q9UBF6	RBX2_HUMAN	ring finger protein 7	0					intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of apoptotic process (GO:0043066)|protein neddylation (GO:0045116)|protein ubiquitination (GO:0016567)|response to redox state (GO:0051775)	Cul5-RING ubiquitin ligase complex (GO:0031466)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|NEDD8 ligase activity (GO:0019788)|zinc ion binding (GO:0008270)			kidney(1)|lung(3)|upper_aerodigestive_tract(1)	5						ATCGGCAAATGAGAGTGGTTA	0.502																																						dbGAP											0													63.0	52.0	56.0					3																	141464118		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF092878	CCDS3118.1, CCDS43158.1, CCDS56283.1	3q22-q24	2008-07-18			ENSG00000114125	ENSG00000114125		"""RING-type (C3HC4) zinc fingers"""	10070	protein-coding gene	gene with protein product	"""sensitive to apoptosis, zinc RING finger protein SAG, regulator of cullins 2"""	603863				10082581, 10230407	Standard	NM_014245		Approved	SAG, ROC2, CKBBP1	uc003eud.3	Q9UBF6	OTTHUMG00000141305	ENST00000273480.3:c.341G>A	3.37:g.141464118G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1H9|A8MTB5|C9JYL3|D3DNF7|D3DNF8|Q9BXN8|Q9Y5M7	Silent	SNP	pfscan_Znf_RING	p.*114	ENST00000273480.3	37	c.341	CCDS3118.1	3																																																																																			RNF7	-	NULL	ENSG00000114125		0.502	RNF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF7	HGNC	protein_coding	OTTHUMT00000280602.1	47	0.00	0	G	NM_014245		141464118	141464118	+1	no_errors	ENST00000273480	ensembl	human	known	69_37n	silent	25	43.18	19	SNP	1.000	A
RNPEPL1	57140	genome.wustl.edu	37	2	241516344	241516344	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:241516344G>C	ENST00000270357.4	+	10	1721	c.1128G>C	c.(1126-1128)caG>caC	p.Q376H	RNPEPL1_ENST00000464550.1_3'UTR	NM_018226.4	NP_060696.4	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like 1	376					leukotriene biosynthetic process (GO:0019370)		aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		GCTGGCTGCAGATTGTGGTCC	0.647																																						dbGAP											0													97.0	82.0	87.0					2																	241516344		2203	4300	6503	-	-	-	SO:0001583	missense	0					2q37.3	2012-03-06			ENSG00000142327	ENSG00000142327			10079	protein-coding gene	gene with protein product		605287				19508204	Standard	NM_018226		Approved		uc002vzi.4	Q9HAU8	OTTHUMG00000133357	ENST00000270357.4:c.1128G>C	2.37:g.241516344G>C	ENSP00000270357:p.Gln376His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5XKC3|Q6NX56|Q96AC9|Q9H033|Q9NVD0	Missense_Mutation	SNP	pfam_Peptidase_M1_C,pfam_Peptidase_M1_N,superfamily_ARM-type_fold,prints_Peptidase_M1_N	p.Q376H	ENST00000270357.4	37	c.1128		2	.	.	.	.	.	.	.	.	.	.	G	19.38	3.816150	0.70912	.	.	ENSG00000142327	ENST00000270357;ENST00000437406	T;T	0.48201	0.82;0.82	4.73	3.85	0.44370	Peptidase M1, leukotriene A4 hydrolase, aminopeptidase C-terminal (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.65719	0.2718	M	0.75264	2.295	0.49130	D	0.999755	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	T	0.67381	-0.5685	10	0.62326	D	0.03	-0.5076	10.6509	0.45647	0.0967:0.0:0.9033:0.0	.	282;376	A4FTX9;Q9HAU8	.;RNPL1_HUMAN	H	376;129	ENSP00000270357:Q376H;ENSP00000403319:Q129H	ENSP00000270357:Q376H	Q	+	3	2	RNPEPL1	241165017	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	8.955000	0.93058	0.981000	0.38548	-0.229000	0.12294	CAG	RNPEPL1	-	pfam_Peptidase_M1_C,superfamily_ARM-type_fold	ENSG00000142327		0.647	RNPEPL1-001	KNOWN	basic|appris_principal	protein_coding	RNPEPL1	HGNC	protein_coding	OTTHUMT00000257190.4	36	0.00	0	G	NM_018226		241516344	241516344	+1	no_errors	ENST00000270357	ensembl	human	known	69_37n	missense	40	23.08	12	SNP	1.000	C
ROBO3	64221	genome.wustl.edu	37	11	124739441	124739441	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:124739441G>C	ENST00000397801.1	+	3	775	c.583G>C	c.(583-585)Gag>Cag	p.E195Q	ROBO3_ENST00000538940.1_Missense_Mutation_p.E173Q	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	195	Ig-like C2-type 2.				axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CGGCCACCCGGAGCCTTCCGT	0.617																																						dbGAP											0													21.0	23.0	22.0					11																	124739441		1861	4069	5930	-	-	-	SO:0001583	missense	0			AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.583G>C	11.37:g.124739441G>C	ENSP00000380903:p.Glu195Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E195Q	ENST00000397801.1	37	c.583	CCDS44755.1	11	.	.	.	.	.	.	.	.	.	.	G	27.5	4.836926	0.91117	.	.	ENSG00000154134	ENST00000397801;ENST00000538940	T;T	0.67171	-0.25;-0.25	3.73	3.73	0.42828	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.38111	N	0.001803	T	0.72301	0.3443	L	0.31207	0.915	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74937	-0.3494	10	0.49607	T	0.09	.	15.6648	0.77221	0.0:0.0:1.0:0.0	.	195	Q96MS0	ROBO3_HUMAN	Q	195;173	ENSP00000380903:E195Q;ENSP00000441797:E173Q	ENSP00000380903:E195Q	E	+	1	0	ROBO3	124244651	1.000000	0.71417	0.956000	0.39512	0.985000	0.73830	9.450000	0.97607	2.074000	0.62210	0.563000	0.77884	GAG	ROBO3	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000154134		0.617	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO3	HGNC	protein_coding	OTTHUMT00000387091.1	32	0.00	0	G	XM_370663		124739441	124739441	+1	no_errors	ENST00000397801	ensembl	human	known	69_37n	missense	9	64.00	16	SNP	1.000	C
ROCK2	9475	genome.wustl.edu	37	2	11332423	11332423	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:11332423C>T	ENST00000315872.6	-	32	4462	c.4014G>A	c.(4012-4014)caG>caA	p.Q1338Q	ROCK2_ENST00000401753.1_Silent_p.Q1095Q	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	1338	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TAACCCACTTCTGCTGCTCTT	0.358																																						dbGAP											0													172.0	164.0	166.0					2																	11332423		1807	4068	5875	-	-	-	SO:0001819	synonymous_variant	0			D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.4014G>A	2.37:g.11332423C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53QZ0|Q53SJ7|Q9UQN5	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_tRNA-bd_arm,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.Q1338	ENST00000315872.6	37	c.4014	CCDS42654.1	2																																																																																			ROCK2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pirsf_Rho-assoc_coiled-coil_kinase,pfscan_Pleckstrin_homology	ENSG00000134318		0.358	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROCK2	HGNC	protein_coding	OTTHUMT00000313886.3	168	0.00	0	C			11332423	11332423	-1	no_errors	ENST00000315872	ensembl	human	known	69_37n	silent	92	23.33	28	SNP	1.000	T
ROM1	6094	genome.wustl.edu	37	11	62381027	62381027	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:62381027C>G	ENST00000278833.3	+	1	815	c.274C>G	c.(274-276)Cta>Gta	p.L92V	EML3_ENST00000531557.1_5'Flank|ROM1_ENST00000534093.1_Intron|EML3_ENST00000529309.1_5'Flank|EML3_ENST00000278845.4_5'Flank|EML3_ENST00000494176.2_5'Flank|EML3_ENST00000394773.2_5'Flank	NM_000327.3	NP_000318	Q03395	ROM1_HUMAN	retinal outer segment membrane protein 1	92					camera-type eye photoreceptor cell differentiation (GO:0060219)|cell adhesion (GO:0007155)|regulation of gene expression (GO:0010468)|retina vasculature development in camera-type eye (GO:0061298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	8						GAATGCAGCTCTATACCCTCC	0.706																																						dbGAP											0													36.0	32.0	34.0					11																	62381027		2201	4298	6499	-	-	-	SO:0001583	missense	0			L07894	CCDS8024.1	11q13	2013-02-14				ENSG00000149489		"""Tetraspanins"""	10254	protein-coding gene	gene with protein product		180721				8504299	Standard	NM_000327		Approved	TSPAN23, ROM	uc001ntv.3	Q03395		ENST00000278833.3:c.274C>G	11.37:g.62381027C>G	ENSP00000278833:p.Leu92Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R978	Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Peripherin/rom-1	p.L92V	ENST00000278833.3	37	c.274	CCDS8024.1	11	.	.	.	.	.	.	.	.	.	.	C	9.449	1.090148	0.20390	.	.	ENSG00000149489	ENST00000278833	T	0.03094	4.05	4.64	3.73	0.42828	.	0.381500	0.28062	N	0.016754	T	0.02230	0.0069	N	0.08118	0	0.09310	N	1	B	0.20780	0.048	B	0.24006	0.05	T	0.41305	-0.9516	10	0.72032	D	0.01	-2.9187	5.9691	0.19342	0.1862:0.7174:0.0:0.0964	.	92	Q03395	ROM1_HUMAN	V	92	ENSP00000278833:L92V	ENSP00000278833:L92V	L	+	1	2	ROM1	62137603	0.000000	0.05858	0.697000	0.30258	0.707000	0.40811	0.140000	0.16056	1.188000	0.43014	-0.671000	0.03813	CTA	ROM1	-	pfam_Tetraspanin/Peripherin	ENSG00000149489		0.706	ROM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROM1	HGNC	protein_coding	OTTHUMT00000394929.1	20	0.00	0	C	NM_000327		62381027	62381027	+1	no_errors	ENST00000278833	ensembl	human	known	69_37n	missense	48	22.58	14	SNP	0.001	G
ROS1	6098	genome.wustl.edu	37	6	117724314	117724314	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:117724314G>A	ENST00000368508.3	-	6	763	c.565C>T	c.(565-567)Cat>Tat	p.H189Y	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.H198Y	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	189	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CCATGAGGATGAGTCCTGTAA	0.423			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	dbGAP		Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"""O, E"""	0													97.0	96.0	96.0					6																	117724314		2203	4300	6503	-	-	-	SO:0001583	missense	0			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.565C>T	6.37:g.117724314G>A	ENSP00000357494:p.His189Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15368|Q5TDB5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom	p.H189Y	ENST00000368508.3	37	c.565	CCDS5116.1	6	.	.	.	.	.	.	.	.	.	.	G	12.20	1.865637	0.32977	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.53206	0.63;0.63	5.21	5.21	0.72293	.	0.100675	0.45126	D	0.000386	T	0.36220	0.0959	L	0.48362	1.52	0.80722	D	1	D	0.58268	0.982	P	0.54270	0.747	T	0.32745	-0.9895	10	0.02654	T	1	.	16.2838	0.82709	0.0:0.0:1.0:0.0	.	189	P08922	ROS1_HUMAN	Y	189;198	ENSP00000357494:H189Y;ENSP00000357493:H198Y	ENSP00000357493:H198Y	H	-	1	0	ROS1	117831007	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	3.625000	0.54238	2.600000	0.87896	0.655000	0.94253	CAT	ROS1	-	superfamily_Fibronectin_type3	ENSG00000047936		0.423	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ROS1	HGNC	protein_coding	OTTHUMT00000043464.1	48	0.00	0	G			117724314	117724314	-1	no_errors	ENST00000368508	ensembl	human	known	69_37n	missense	52	21.21	14	SNP	0.997	A
RP1	6101	genome.wustl.edu	37	8	55538337	55538337	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:55538337C>T	ENST00000220676.1	+	4	2043	c.1895C>T	c.(1894-1896)tCa>tTa	p.S632L		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	632					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)			GCTCCAGCTTCAGAAGCATCC	0.363																																					Colon(91;1014 1389 7634 14542 40420)	dbGAP											0													38.0	41.0	40.0					8																	55538337		2200	4294	6494	-	-	-	SO:0001583	missense	0			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.1895C>T	8.37:g.55538337C>T	ENSP00000220676:p.Ser632Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.S632L	ENST00000220676.1	37	c.1895	CCDS6160.1	8	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.512784	0.00975	.	.	ENSG00000104237	ENST00000220676	T	0.37411	1.2	5.53	3.74	0.42951	.	0.299915	0.24189	N	0.040739	T	0.20414	0.0491	N	0.20401	0.57	0.09310	N	1	B	0.24533	0.105	B	0.22880	0.042	T	0.16660	-1.0395	10	0.25751	T	0.34	.	6.6784	0.23108	0.1422:0.709:0.0:0.1488	.	632	P56715	RP1_HUMAN	L	632	ENSP00000220676:S632L	ENSP00000220676:S632L	S	+	2	0	RP1	55700890	0.006000	0.16342	0.188000	0.23233	0.138000	0.21146	0.730000	0.26043	0.701000	0.31803	0.491000	0.48974	TCA	RP1	-	NULL	ENSG00000104237		0.363	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1	HGNC	protein_coding	OTTHUMT00000378532.2	36	0.00	0	C	NM_006269		55538337	55538337	+1	no_errors	ENST00000220676	ensembl	human	known	69_37n	missense	34	20.93	9	SNP	0.021	T
RP9	6100	genome.wustl.edu	37	7	33136887	33136887	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:33136887C>G	ENST00000297157.3	-	4	418	c.401G>C	c.(400-402)aGa>aCa	p.R134T		NM_203288.1	NP_976033.1	Q8TA86	RP9_HUMAN	retinitis pigmentosa 9 (autosomal dominant)	134	PIM1-binding. {ECO:0000250}.				cognition (GO:0050890)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|signal recognition particle receptor complex (GO:0005785)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|urinary_tract(1)	7			GBM - Glioblastoma multiforme(11;0.0403)			ACTTACCACTCTGAACTGCTC	0.393																																						dbGAP											0													126.0	120.0	122.0					7																	33136887		2203	4300	6503	-	-	-	SO:0001583	missense	0			AX016710	CCDS5440.1	7p14.3	2014-01-28			ENSG00000164610	ENSG00000164610			10288	protein-coding gene	gene with protein product	"""Pim-1 kinase associated protein"""	607331				8513323	Standard	NM_203288		Approved	PAP-1	uc003tdm.3	Q8TA86	OTTHUMG00000152988	ENST00000297157.3:c.401G>C	7.37:g.33136887C>G	ENSP00000297157:p.Arg134Thr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.R134T	ENST00000297157.3	37	c.401	CCDS5440.1	7	.	.	.	.	.	.	.	.	.	.	C	19.46	3.832243	0.71258	.	.	ENSG00000164610	ENST00000297157;ENST00000448915	D;D	0.82344	-1.6;-1.56	3.77	3.77	0.43336	.	0.000000	0.85682	D	0.000000	D	0.90452	0.7010	M	0.77103	2.36	0.53688	D	0.999975	D	0.71674	0.998	D	0.70487	0.969	D	0.92302	0.5850	10	0.87932	D	0	-35.0534	16.449	0.83973	0.0:1.0:0.0:0.0	.	134	Q8TA86	RP9_HUMAN	T	134;100	ENSP00000297157:R134T;ENSP00000411577:R100T	ENSP00000297157:R134T	R	-	2	0	RP9	33103412	1.000000	0.71417	1.000000	0.80357	0.617000	0.37484	7.032000	0.76498	2.028000	0.59812	0.400000	0.26472	AGA	RP9	-	NULL	ENSG00000164610		0.393	RP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP9	HGNC	protein_coding	OTTHUMT00000328914.1	139	0.71	1	C	NM_203288		33136887	33136887	-1	no_errors	ENST00000297157	ensembl	human	known	69_37n	missense	77	25.96	27	SNP	1.000	G
RPGR	6103	genome.wustl.edu	37	X	38145107	38145107	+	Intron	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:38145107C>G	ENST00000339363.3	-	14	2688				RPGR_ENST00000338898.3_Intron|RPGR_ENST00000342811.3_Intron|RPGR_ENST00000318842.7_Intron|RPGR_ENST00000378505.2_Missense_Mutation_p.E1049Q|RPGR_ENST00000309513.3_Intron|TM4SF2_ENST00000465127.1_Intron			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator						cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						ccttccccctccttttccctt	0.537																																						dbGAP											0													206.0	150.0	169.0					X																	38145107		2200	4297	6497	-	-	-	SO:0001627	intron_variant	0			U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"""retinitis pigmentosa 15"", ""cone dystrophy 1 (X-linked)"""	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.2520+1239G>C	X.37:g.38145107C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Missense_Mutation	SNP	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.E1049Q	ENST00000339363.3	37	c.3145		X	.	.	.	.	.	.	.	.	.	.	c	6.424	0.446341	0.12164	.	.	ENSG00000156313	ENST00000378505	T	0.02552	4.25	2.08	2.08	0.27032	.	1.474430	0.04673	U	0.410988	T	0.06188	0.0160	L	0.54323	1.7	0.58432	D	0.99999	D	0.63046	0.992	P	0.45577	0.486	T	0.49725	-0.8909	10	0.34782	T	0.22	.	11.3887	0.49800	0.0:1.0:0.0:0.0	.	1049	E9PE28	.	Q	1049	ENSP00000367766:E1049Q	ENSP00000367766:E1049Q	E	-	1	0	RPGR	38030051	0.097000	0.21791	0.002000	0.10522	0.012000	0.07955	1.502000	0.35704	1.020000	0.39573	0.339000	0.21740	GAG	RPGR	-	NULL	ENSG00000156313		0.537	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	RPGR	HGNC	protein_coding		221	0.00	0	C	NM_000328		38145107	38145107	-1	no_errors	ENST00000378505	ensembl	human	known	69_37n	missense	282	19.89	70	SNP	0.020	G
RPGR	6103	genome.wustl.edu	37	X	38145215	38145215	+	Intron	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:38145215C>A	ENST00000339363.3	-	14	2688				RPGR_ENST00000338898.3_Intron|RPGR_ENST00000342811.3_Intron|RPGR_ENST00000318842.7_Intron|RPGR_ENST00000378505.2_Missense_Mutation_p.G1013W|RPGR_ENST00000309513.3_Intron|TM4SF2_ENST00000465127.1_Intron			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator						cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						tcttcctccccttctccctcc	0.592																																						dbGAP											0													35.0	25.0	28.0					X																	38145215		2147	4174	6321	-	-	-	SO:0001627	intron_variant	0			U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"""retinitis pigmentosa 15"", ""cone dystrophy 1 (X-linked)"""	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.2520+1131G>T	X.37:g.38145215C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Missense_Mutation	SNP	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.G1013W	ENST00000339363.3	37	c.3037		X	.	.	.	.	.	.	.	.	.	.	c	4.890	0.165466	0.09339	.	.	ENSG00000156313	ENST00000378505	T	0.37915	1.17	1.48	1.48	0.22813	.	1.166530	0.06658	U	0.763942	T	0.30696	0.0773	L	0.55481	1.735	0.80722	D	1	P	0.44195	0.828	B	0.31290	0.127	T	0.38045	-0.9679	10	0.66056	D	0.02	.	10.2677	0.43464	0.0:1.0:0.0:0.0	.	1013	E9PE28	.	W	1013	ENSP00000367766:G1013W	ENSP00000367766:G1013W	G	-	1	0	RPGR	38030159	0.000000	0.05858	0.002000	0.10522	0.006000	0.05464	0.336000	0.19823	0.682000	0.31407	0.339000	0.21740	GGG	RPGR	-	NULL	ENSG00000156313		0.592	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	RPGR	HGNC	protein_coding		63	0.00	0	C	NM_000328		38145215	38145215	-1	no_errors	ENST00000378505	ensembl	human	known	69_37n	missense	88	24.14	28	SNP	0.911	A
RPGR	6103	genome.wustl.edu	37	X	38176595	38176595	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:38176595C>A	ENST00000339363.3	-	6	760	c.593G>T	c.(592-594)gGa>gTa	p.G198V	RPGR_ENST00000338898.3_Missense_Mutation_p.G198V|RPGR_ENST00000342811.3_Missense_Mutation_p.G198V|RPGR_ENST00000318842.7_Missense_Mutation_p.G198V|RPGR_ENST00000378505.2_Missense_Mutation_p.G198V|RPGR_ENST00000309513.3_Missense_Mutation_p.G198V|TM4SF2_ENST00000465127.1_Intron			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	198					cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						ATGGTAATATCCACAAGAGAT	0.353																																						dbGAP											0			GRCh37	CM083080	RPGR	M							104.0	91.0	95.0					X																	38176595		2202	4300	6502	-	-	-	SO:0001583	missense	0			U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"""retinitis pigmentosa 15"", ""cone dystrophy 1 (X-linked)"""	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.593G>T	X.37:g.38176595C>A	ENSP00000343671:p.Gly198Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Missense_Mutation	SNP	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.G198V	ENST00000339363.3	37	c.593		X	.	.	.	.	.	.	.	.	.	.	c	26.8	4.770561	0.90108	.	.	ENSG00000156313	ENST00000339363;ENST00000309513;ENST00000338898;ENST00000318842;ENST00000342811;ENST00000378505	D;D;D;D;D;D	0.98120	-4.73;-4.73;-4.73;-4.73;-4.73;-4.73	5.55	5.55	0.83447	.	0.000000	0.85682	U	0.000000	D	0.99342	0.9769	H	0.98664	4.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98455	1.0593	10	0.87932	D	0	.	18.6092	0.91277	0.0:1.0:0.0:0.0	.	198;198	E9PE28;Q92834-2	.;.	V	198	ENSP00000343671:G198V;ENSP00000308783:G198V;ENSP00000340208:G198V;ENSP00000322219:G198V;ENSP00000339531:G198V;ENSP00000367766:G198V	ENSP00000308783:G198V	G	-	2	0	RPGR	38061539	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.433000	0.80362	2.338000	0.79540	0.596000	0.82720	GGA	RPGR	-	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens	ENSG00000156313		0.353	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	RPGR	HGNC	protein_coding		132	0.00	0	C	NM_000328		38176595	38176595	-1	no_errors	ENST00000378505	ensembl	human	known	69_37n	missense	89	14.42	15	SNP	1.000	A
RPA4	29935	genome.wustl.edu	37	X	96139471	96139471	+	Silent	SNP	T	T	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:96139471T>G	ENST00000373040.3	+	1	565	c.162T>G	c.(160-162)ctT>ctG	p.L54L	DIAPH2_ENST00000373061.3_Intron|DIAPH2_ENST00000355827.4_Intron|DIAPH2_ENST00000373054.4_Intron|DIAPH2_ENST00000373049.4_Intron|DIAPH2_ENST00000324765.8_Intron	NM_013347.4	NP_037479.1	Q13156	RFA4_HUMAN	replication protein A4, 30kDa	54					DNA damage checkpoint (GO:0000077)|DNA recombination (GO:0006310)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)	DNA replication factor A complex (GO:0005662)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						TGAACCAGCTTCTCAGCTCTA	0.488								Other identified genes with known or suspected DNA repair function																														dbGAP											0													156.0	130.0	139.0					X																	96139471		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U24186	CCDS35345.1	Xq21	2010-04-09	2010-04-09		ENSG00000204086	ENSG00000204086			30305	protein-coding gene	gene with protein product		300767	"""replication protein A4, 34kDa"""			7760808	Standard	NM_013347		Approved	HSU24186	uc004efv.4	Q13156	OTTHUMG00000021987	ENST00000373040.3:c.162T>G	X.37:g.96139471T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3SY03	Silent	SNP	pfam_RPA_C,pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,pirsf_RPA32	p.L54	ENST00000373040.3	37	c.162	CCDS35345.1	X																																																																																			RPA4	-	superfamily_NA-bd_OB-fold-like,pirsf_RPA32	ENSG00000204086		0.488	RPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPA4	HGNC	protein_coding	OTTHUMT00000057464.1	110	0.00	0	T	NM_013347		96139471	96139471	+1	no_errors	ENST00000373040	ensembl	human	known	69_37n	silent	116	22.67	34	SNP	0.082	G
RPL17	6139	genome.wustl.edu	37	18	47017915	47017915	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr18:47017915C>T	ENST00000418495.1	-	2	367	c.27G>A	c.(25-27)gaG>gaA	p.E9E	RPL17_ENST00000580210.1_Intron|RPL17-C18orf32_ENST00000332968.6_5'UTR|RPL17_ENST00000579408.1_Silent_p.E9E|SNORD58C_ENST00000365223.1_RNA|RPL17_ENST00000579248.1_Silent_p.E9E|SNORD58B_ENST00000607313.1_RNA|RPL17_ENST00000581091.1_5'UTR|SNORD58A_ENST00000383875.1_RNA|RPL17-C18orf32_ENST00000584895.1_Silent_p.E9E|RPL17_ENST00000580261.1_Silent_p.E9E|RPL17_ENST00000581373.1_5'UTR|MIR1539_ENST00000581232.1_RNA	NM_000985.4|NM_001199340.1	NP_000976.1|NP_001186269.1	P18621	RL17_HUMAN	ribosomal protein L17	9					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)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|lung(3)	5						TCGTGGGGTTCTCCGGGTCAA	0.393																																						dbGAP											0													189.0	175.0	179.0					18																	47017915		1874	4101	5975	-	-	-	SO:0001819	synonymous_variant	0			AB007174	CCDS45865.1, CCDS56070.1	18q21	2011-04-06				ENSG00000265681		"""L ribosomal proteins"""	10307	protein-coding gene	gene with protein product		603661				2402465, 9582194	Standard	NM_000985		Approved	rpL23, L17		P18621		ENST00000418495.1:c.27G>A	18.37:g.47017915C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R4H3|B4E3C2|B5ME31|J3QL51|Q3KQW2|Q6NZ54|Q7M4M5	Silent	SNP	pfam_Ribosomal_L22,superfamily_Ribosomal_L22,tigrfam_Ribosomal_L22/L17_euk/arc	p.E9	ENST00000418495.1	37	c.27	CCDS45865.1	18																																																																																			RP11-110H1.2	-	superfamily_Ribosomal_L22,tigrfam_Ribosomal_L22/L17_euk/arc	ENSG00000215472		0.393	RPL17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL17-C18ORF32	Clone_based_vega_gene	protein_coding	OTTHUMT00000447589.2	150	0.00	0	C	NM_000985		47017915	47017915	-1	no_errors	ENST00000418495	ensembl	human	known	69_37n	silent	60	31.82	28	SNP	1.000	T
RPL23	9349	genome.wustl.edu	37	17	37006660	37006660	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:37006660C>G	ENST00000479035.2	-	4	427	c.295G>C	c.(295-297)Gaa>Caa	p.E99Q	SNORA21_ENST00000362423.1_RNA|RPL23_ENST00000577407.1_Missense_Mutation_p.E99Q|SNORA21_ENST00000516890.1_RNA|RPL23_ENST00000245857.5_Missense_Mutation_p.E40Q|RPL23_ENST00000394332.1_Missense_Mutation_p.E99Q|RPL23_ENST00000394333.1_Intron	NM_000978.3	NP_000969.1	P62829	RL23_HUMAN	ribosomal protein L23	99					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 protein import into nucleus (GO:0006610)|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 large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|large_intestine(1)	3						GCATTATCTTCAAAATAAAGA	0.413																																						dbGAP											0													164.0	144.0	151.0					17																	37006660		2203	4300	6503	-	-	-	SO:0001583	missense	0			X52839	CCDS11330.1	17q12	2011-04-06			ENSG00000125691	ENSG00000125691		"""L ribosomal proteins"""	10316	protein-coding gene	gene with protein product		603662				1861993	Standard	NM_000978		Approved	rpL17, L23	uc002hqx.1	P62829	OTTHUMG00000133118	ENST00000479035.2:c.295G>C	17.37:g.37006660C>G	ENSP00000420311:p.Glu99Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	P23131|P24048|Q29246|Q3SWV7|Q6P5S1	Missense_Mutation	SNP	pfam_Ribosomal_L14b/L23e,superfamily_Ribosomal_L14_dom	p.E99Q	ENST00000479035.2	37	c.295	CCDS11330.1	17	.	.	.	.	.	.	.	.	.	.	C	33	5.214199	0.95104	.	.	ENSG00000125691	ENST00000479035;ENST00000394332	.	.	.	5.4	5.4	0.78164	Ribosomal protein L14 conserved site (1);Ribosomal protein L14 domain (2);	0.000000	0.85682	U	0.000000	D	0.84220	0.5424	H	0.96111	3.77	0.80722	D	1	P	0.46020	0.871	P	0.51415	0.669	D	0.88936	0.3376	9	0.66056	D	0.02	-31.5658	17.7265	0.88366	0.0:1.0:0.0:0.0	.	99	P62829	RL23_HUMAN	Q	99	.	ENSP00000377865:E99Q	E	-	1	0	RPL23	34260186	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.743000	0.85020	2.548000	0.85928	0.484000	0.47621	GAA	RPL23	-	pfam_Ribosomal_L14b/L23e,superfamily_Ribosomal_L14_dom	ENSG00000125691		0.413	RPL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL23	HGNC	protein_coding	OTTHUMT00000256785.3	86	0.00	0	C	NM_000978		37006660	37006660	-1	no_errors	ENST00000479035	ensembl	human	known	69_37n	missense	52	28.77	21	SNP	1.000	G
RPL39L	116832	genome.wustl.edu	37	3	186838938	186838938	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:186838938G>C	ENST00000296277.4	-	3	553	c.151C>G	c.(151-153)Cta>Gta	p.L51V	RPL39L_ENST00000455270.1_Missense_Mutation_p.L51V|RPL39L_ENST00000433055.1_Missense_Mutation_p.L51V	NM_052969.1	NP_443201.1	Q96EH5	RL39L_HUMAN	ribosomal protein L39-like	51					spermatogenesis (GO:0007283)|translation (GO:0006412)	cytosolic large ribosomal subunit (GO:0022625)	structural constituent of ribosome (GO:0003735)					all_cancers(143;2.61e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.87e-18)	GBM - Glioblastoma multiforme(93;0.0745)		ATTCCTTATAGACCCAGCTTG	0.428																																						dbGAP											0													122.0	116.0	118.0					3																	186838938		2203	4297	6500	-	-	-	SO:0001583	missense	0			BC012328	CCDS3286.1	3q27.3	2008-02-01	2002-01-15	2002-01-18	ENSG00000163923	ENSG00000163923		"""L ribosomal proteins"""	17094	protein-coding gene	gene with protein product		607547	"""ribosomal protein L39-like 1"""	RPL39L1			Standard	NM_052969		Approved		uc003fre.1	Q96EH5	OTTHUMG00000156465	ENST00000296277.4:c.151C>G	3.37:g.186838938G>C	ENSP00000296277:p.Leu51Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IUD0	Missense_Mutation	SNP	pfam_Ribosomal_L39,superfamily_Ribosomal_L39e_dom	p.L51V	ENST00000296277.4	37	c.151	CCDS3286.1	3	.	.	.	.	.	.	.	.	.	.	G	12.65	2.001913	0.35320	.	.	ENSG00000163923	ENST00000455270;ENST00000296277;ENST00000433055	.	.	.	2.13	1.24	0.21308	Ribosomal protein L39e domain (2);	0.000000	0.41294	U	0.000919	T	0.69459	0.3113	.	.	.	0.53688	D	0.999979	D	0.89917	1.0	D	0.91635	0.999	T	0.67126	-0.5749	8	0.56958	D	0.05	-2.1682	6.7235	0.23342	0.161:0.0:0.839:0.0	.	51	Q96EH5	RL39L_HUMAN	V	51	.	ENSP00000296277:L51V	L	-	1	2	RPL39L	188321632	1.000000	0.71417	0.847000	0.33407	0.459000	0.32528	0.719000	0.25881	0.443000	0.26582	0.591000	0.81541	CTA	RPL39L	-	superfamily_Ribosomal_L39e_dom	ENSG00000163923		0.428	RPL39L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RPL39L	HGNC	protein_coding	OTTHUMT00000344283.2	49	0.00	0	G	NM_052969		186838938	186838938	-1	no_errors	ENST00000296277	ensembl	human	known	69_37n	missense	37	22.92	11	SNP	1.000	C
RPL3L	6123	genome.wustl.edu	37	16	2002910	2002910	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:2002910G>A	ENST00000268661.7	-	3	424	c.330C>T	c.(328-330)ctC>ctT	p.L110L	RPL3L_ENST00000566484.1_5'Flank	NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like	110					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)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|ribosome (GO:0005840)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						ACTCATCACTGAGGTGTTCTG	0.622																																						dbGAP											0													83.0	80.0	81.0					16																	2002910		2199	4300	6499	-	-	-	SO:0001819	synonymous_variant	0			U65581	CCDS10450.1	16p13.3	2008-02-05			ENSG00000140986	ENSG00000140986		"""L ribosomal proteins"""	10351	protein-coding gene	gene with protein product						8921388	Standard	NM_005061		Approved		uc002cnh.3	Q92901	OTTHUMG00000128685	ENST00000268661.7:c.330C>T	16.37:g.2002910G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Ribosomal_L3,superfamily_Transl_elong_init/rib_B-barrel	p.L110	ENST00000268661.7	37	c.330	CCDS10450.1	16																																																																																			RPL3L	-	pfam_Ribosomal_L3,superfamily_Transl_elong_init/rib_B-barrel	ENSG00000140986		0.622	RPL3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL3L	HGNC	protein_coding	OTTHUMT00000250582.2	26	0.00	0	G	NM_005061		2002910	2002910	-1	no_errors	ENST00000268661	ensembl	human	known	69_37n	silent	39	18.75	9	SNP	0.986	A
RPL5	6125	genome.wustl.edu	37	1	93301752	93301752	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:93301752C>G	ENST00000370321.3	+	5	420	c.330C>G	c.(328-330)ctC>ctG	p.L110L	SNORA66_ENST00000515986.1_RNA|SNORD21_ENST00000383953.1_RNA	NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5	110					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)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	5S rRNA binding (GO:0008097)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		AATAGCTTCTCAATAGGTTTG	0.403																																						dbGAP											0													123.0	130.0	128.0					1																	93301752		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U14966	CCDS741.1	1p22.1	2014-06-13			ENSG00000122406	ENSG00000122406		"""L ribosomal proteins"""	10360	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 135"""	603634				7937132, 7772601	Standard	NM_000969		Approved	L5, PPP1R135	uc001doz.3	P46777	OTTHUMG00000010899	ENST00000370321.3:c.330C>G	1.37:g.93301752C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q32LZ3|Q53HH6|Q9H3F4	Silent	SNP	pfam_Ribosomal_L18/L5,prints_Rbsml_L5_euk/L18_arc	p.L110	ENST00000370321.3	37	c.330	CCDS741.1	1																																																																																			RPL5	-	pfam_Ribosomal_L18/L5	ENSG00000122406		0.403	RPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL5	HGNC	protein_coding	OTTHUMT00000030058.2	83	0.00	0	C	NM_000969		93301752	93301752	+1	no_errors	ENST00000370321	ensembl	human	known	69_37n	silent	63	27.59	24	SNP	0.903	G
RPLP0	6175	genome.wustl.edu	37	12	120634635	120634635	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:120634635C>T	ENST00000551150.1	-	7	1210	c.895G>A	c.(895-897)Gaa>Aaa	p.E299K	RPLP0_ENST00000228306.4_Missense_Mutation_p.E299K|RPLP0_ENST00000392514.4_Missense_Mutation_p.E299K|RPLP0_ENST00000550296.1_5'Flank|RPLP0_ENST00000552292.1_Missense_Mutation_p.E89K|RPLP0_ENST00000546989.1_Missense_Mutation_p.E263K|RPLP0_ENST00000313104.5_Missense_Mutation_p.E237K|GCN1L1_ENST00000300648.6_5'Flank			P05388	RLA0_HUMAN	ribosomal protein, large, P0	299					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)|ribosome biogenesis (GO:0042254)|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)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCCTTGGCTTCAACCTTAGCT	0.527																																						dbGAP											0													22.0	24.0	23.0					12																	120634635		2193	4268	6461	-	-	-	SO:0001583	missense	0			AB007187	CCDS9193.1	12q24.2	2011-07-29			ENSG00000089157	ENSG00000089157		"""L ribosomal proteins"""	10371	protein-coding gene	gene with protein product	"""acidic ribosomal phosphoprotein P0"""	180510				9582194	Standard	NM_053275		Approved	PRLP0, P0, L10E, RPP0, LP0	uc001txq.3	P05388	OTTHUMG00000169317	ENST00000551150.1:c.895G>A	12.37:g.120634635C>T	ENSP00000449328:p.Glu299Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3B7A4|Q9BVK4	Missense_Mutation	SNP	pfam_Ribosomal_L10/acidic_P0,pfam_Ribosomal_60S	p.E299K	ENST00000551150.1	37	c.895	CCDS9193.1	12	.	.	.	.	.	.	.	.	.	.	C	20.3	3.974784	0.74360	.	.	ENSG00000089157	ENST00000392514;ENST00000551150;ENST00000552292;ENST00000313104;ENST00000546989;ENST00000228306	.	.	.	5.67	5.67	0.87782	.	0.150760	0.41605	U	0.000847	T	0.62913	0.2467	L	0.43923	1.385	0.80722	D	1	P;B	0.36909	0.573;0.319	B;B	0.43838	0.433;0.303	T	0.55885	-0.8070	9	0.21014	T	0.42	.	19.3832	0.94545	0.0:1.0:0.0:0.0	.	237;299	Q3B7A4;P05388	.;RLA0_HUMAN	K	299;299;89;237;263;299	.	ENSP00000339027:E299K	E	-	1	0	RPLP0	119119018	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.715000	0.68430	2.687000	0.91594	0.655000	0.94253	GAA	RPLP0	-	pfam_Ribosomal_60S	ENSG00000089157		0.527	RPLP0-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RPLP0	HGNC	protein_coding	OTTHUMT00000403448.3	57	0.00	0	C	NM_053275		120634635	120634635	-1	no_errors	ENST00000228306	ensembl	human	known	69_37n	missense	61	18.67	14	SNP	1.000	T
RPRD1B	58490	genome.wustl.edu	37	20	36676792	36676792	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:36676792G>C	ENST00000373433.4	+	3	726	c.324G>C	c.(322-324)ctG>ctC	p.L108L		NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B	108	CID. {ECO:0000255|PROSITE- ProRule:PRU00724}.				dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle process (GO:0010564)|transcription, DNA-templated (GO:0006351)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						AAAGATTGCTGAACATCTGGC	0.423																																						dbGAP											0													106.0	91.0	96.0					20																	36676792		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL109823	CCDS13301.1	20q11.21-q12	2012-02-09	2008-08-15	2008-07-28	ENSG00000101413	ENSG00000101413			16209	protein-coding gene	gene with protein product		614694	"""chromosome 20 open reading frame 77"""	C20orf77		22231121	Standard	NM_021215		Approved	dJ1057B20.2, DKFZp434P0735, CREPT, FLJ44520, NET60	uc002xho.4	Q9NQG5	OTTHUMG00000032434	ENST00000373433.4:c.324G>C	20.37:g.36676792G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q1WDE7|Q6PKF4	Silent	SNP	pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD	p.L108	ENST00000373433.4	37	c.324	CCDS13301.1	20																																																																																			RPRD1B	-	pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD	ENSG00000101413		0.423	RPRD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPRD1B	HGNC	protein_coding	OTTHUMT00000079142.2	77	0.00	0	G	NM_021215		36676792	36676792	+1	no_errors	ENST00000373433	ensembl	human	known	69_37n	silent	80	16.67	16	SNP	1.000	C
RPRM	56475	genome.wustl.edu	37	2	154334842	154334842	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:154334842G>C	ENST00000325926.3	-	1	480	c.238C>G	c.(238-240)Ctg>Gtg	p.L80V	AC012501.2_ENST00000424322.1_RNA	NM_019845.2	NP_062819.1	Q9NS64	RPRM_HUMAN	reprimo, TP53 dependent G2 arrest mediator candidate	80					cell cycle arrest (GO:0007050)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				large_intestine(2)|lung(1)|prostate(1)	4						TTGATGAGCAGATTGCAGCCG	0.607																																						dbGAP											0													95.0	74.0	81.0					2																	154334842		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074808	CCDS2198.1	2q24.1	2011-01-26	2005-12-01		ENSG00000177519	ENSG00000177519			24201	protein-coding gene	gene with protein product	"""candidate mediator of the p53 dependent G2 arrest"", ""REPRIMO"""	612171	"""reprimo, TP53 dependant G2 arrest mediator candidate"""			10930422	Standard	NM_019845		Approved	FLJ90327, REPRIMO	uc002tyq.1	Q9NS64	OTTHUMG00000131905	ENST00000325926.3:c.238C>G	2.37:g.154334842G>C	ENSP00000314946:p.Leu80Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R4V1	Missense_Mutation	SNP	NULL	p.L80V	ENST00000325926.3	37	c.238	CCDS2198.1	2	.	.	.	.	.	.	.	.	.	.	G	19.57	3.852008	0.71719	.	.	ENSG00000177519	ENST00000325926	.	.	.	5.02	4.15	0.48705	.	0.000000	0.64402	D	0.000002	T	0.61850	0.2380	M	0.76574	2.34	0.52099	D	0.999944	B	0.27997	0.197	B	0.28553	0.091	T	0.64071	-0.6493	9	0.87932	D	0	-1.7841	11.2803	0.49190	0.0904:0.0:0.9096:0.0	.	80	Q9NS64	RPRM_HUMAN	V	80	.	ENSP00000314946:L80V	L	-	1	2	RPRM	154043088	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.795000	0.55499	1.107000	0.41642	0.591000	0.81541	CTG	RPRM	-	NULL	ENSG00000177519		0.607	RPRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPRM	HGNC	protein_coding	OTTHUMT00000254856.1	17	0.00	0	G	NM_019845		154334842	154334842	-1	no_errors	ENST00000325926	ensembl	human	known	69_37n	missense	19	36.67	11	SNP	1.000	C
RPS29	6235	genome.wustl.edu	37	14	50053006	50053006	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:50053006G>A	ENST00000245458.6	-	1	88	c.59C>T	c.(58-60)tCt>tTt	p.S20F	RPS29_ENST00000396020.3_Missense_Mutation_p.S20F|RN7SL1_ENST00000553637.1_RNA|RPS29_ENST00000557111.1_Intron	NM_001032.3	NP_001023.1	P62273	RS29_HUMAN	ribosomal protein S29	20					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)|focal adhesion (GO:0005925)|small ribosomal subunit (GO:0015935)	structural constituent of ribosome (GO:0003735)|zinc ion binding (GO:0008270)	p.S20C(2)		endometrium(1)|kidney(1)|lung(1)|ovary(1)	4	all_epithelial(31;0.00214)|Breast(41;0.0124)					TTCTCACCAAGAGCGAGAACC	0.557																																						dbGAP											2	Substitution - Missense(2)	endometrium(2)											72.0	79.0	77.0					14																	50053006		2203	4300	6503	-	-	-	SO:0001583	missense	0			L31610	CCDS9685.1, CCDS32072.1	14q21.3	2011-04-06			ENSG00000213741	ENSG00000213741		"""S ribosomal proteins"""	10419	protein-coding gene	gene with protein product		603633				8781548, 7772601	Standard	NM_001032		Approved	S29	uc001wwl.4	P62273	OTTHUMG00000140272	ENST00000245458.6:c.59C>T	14.37:g.50053006G>A	ENSP00000245458:p.Ser20Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MZ73|P30054	Missense_Mutation	SNP	pfam_Ribosomal_S14	p.S20F	ENST00000245458.6	37	c.59	CCDS9685.1	14	.	.	.	.	.	.	.	.	.	.	G	17.85	3.489191	0.64074	.	.	ENSG00000213741	ENST00000396020;ENST00000245458	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.59582	0.2204	.	.	.	0.80722	D	1	B;B	0.20459	0.026;0.045	B;B	0.29077	0.098;0.071	T	0.54430	-0.8295	8	0.40728	T	0.16	.	17.9357	0.89011	0.0:0.0:1.0:0.0	.	20;20	P62273;A8MZ73	RS29_HUMAN;.	F	20	.	ENSP00000245458:S20F	S	-	2	0	RPS29	49122756	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	8.913000	0.92730	2.816000	0.96949	0.563000	0.77884	TCT	RPS29	-	pfam_Ribosomal_S14	ENSG00000213741		0.557	RPS29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS29	HGNC	protein_coding	OTTHUMT00000276809.1	67	0.00	0	G	NM_001030001		50053006	50053006	-1	no_errors	ENST00000396020	ensembl	human	known	69_37n	missense	53	22.06	15	SNP	1.000	A
RPS6KA3	6197	genome.wustl.edu	37	X	20183077	20183077	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:20183077C>T	ENST00000379565.3	-	18	1911	c.1704G>A	c.(1702-1704)ctG>ctA	p.L568L	RPS6KA3_ENST00000479809.1_5'UTR|RPS6KA3_ENST00000540702.1_Silent_p.L539L|RPS6KA3_ENST00000379548.4_Silent_p.L538L|RPS6KA3_ENST00000544447.1_Silent_p.L540L	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	568	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|central nervous system development (GO:0007417)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41					Acetylsalicylic acid(DB00945)	TTTCCGCTCTCAGCTGTTTTG	0.383																																						dbGAP											0													108.0	94.0	99.0					X																	20183077		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U08316	CCDS14197.1	Xp22.2-p22.1	2013-06-03	2002-08-29		ENSG00000177189	ENSG00000177189			10432	protein-coding gene	gene with protein product		300075	"""ribosomal protein S6 kinase, 90kD, polypeptide 3"", ""mental retardation, X-linked 19"", ""Coffin-Lowry syndrome"""	MRX19, CLS		8141249, 11896450, 16879200	Standard	XM_005274573		Approved	RSK, RSK2, HU-3	uc004czu.3	P51812	OTTHUMG00000021231	ENST00000379565.3:c.1704G>A	X.37:g.20183077C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9V4|Q4VAP3|Q59H26|Q5JPK8|Q7Z3Z7	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L568	ENST00000379565.3	37	c.1704	CCDS14197.1	X																																																																																			RPS6KA3	-	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,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom	ENSG00000177189		0.383	RPS6KA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPS6KA3	HGNC	protein_coding	OTTHUMT00000056011.3	50	0.00	0	C	NM_004586		20183077	20183077	-1	no_errors	ENST00000379565	ensembl	human	known	69_37n	silent	50	21.88	14	SNP	0.876	T
RPS6KB2	6199	genome.wustl.edu	37	11	67200852	67200852	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:67200852G>C	ENST00000312629.5	+	10	885	c.840G>C	c.(838-840)aaG>aaC	p.K280N	AP003419.16_ENST00000535922.1_RNA	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	280	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|signal transduction (GO:0007165)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CCATGGATAAGATCATCAGGG	0.627																																						dbGAP											0													102.0	114.0	110.0					11																	67200852		1962	4133	6095	-	-	-	SO:0001583	missense	0			AB019245	CCDS41677.1	11q13.1	2011-04-05	2002-08-29		ENSG00000175634	ENSG00000175634			10437	protein-coding gene	gene with protein product		608939	"""ribosomal protein S6 kinase, 70kD, polypeptide 2"""			9878560, 9804755	Standard	XM_005274164		Approved	p70S6Kb, P70-BETA, STK14B, KLS	uc001old.3	Q9UBS0	OTTHUMG00000167673	ENST00000312629.5:c.840G>C	11.37:g.67200852G>C	ENSP00000308413:p.Lys280Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RMZ9|B4DML8|O94809|Q9UEC1	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase,pfscan_Prot_kinase_cat_dom	p.K280N	ENST00000312629.5	37	c.840	CCDS41677.1	11	.	.	.	.	.	.	.	.	.	.	G	11.87	1.768178	0.31320	.	.	ENSG00000175634	ENST00000312629	T	0.53423	0.62	5.4	1.42	0.22433	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.062059	0.64402	D	0.000008	T	0.32645	0.0836	N	0.11698	0.16	0.80722	D	1	P;P	0.43314	0.803;0.599	P;B	0.46320	0.512;0.348	T	0.08229	-1.0732	10	0.52906	T	0.07	.	8.8726	0.35325	0.4665:0.0:0.5335:0.0	.	280;280	Q9BRS0;Q9UBS0	.;KS6B2_HUMAN	N	280	ENSP00000308413:K280N	ENSP00000308413:K280N	K	+	3	2	RPS6KB2	66957428	1.000000	0.71417	0.996000	0.52242	0.545000	0.35147	1.761000	0.38440	0.006000	0.14734	-0.258000	0.10820	AAG	RPS6KB2	-	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,pirsf_Ribosomal_S6_kinase,pfscan_Prot_kinase_cat_dom	ENSG00000175634		0.627	RPS6KB2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KB2	HGNC	protein_coding	OTTHUMT00000395508.1	49	0.00	0	G	NM_003952		67200852	67200852	+1	no_errors	ENST00000312629	ensembl	human	known	69_37n	missense	66	15.38	12	SNP	0.996	C
RPS6KC1	26750	genome.wustl.edu	37	1	213434972	213434972	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:213434972C>G	ENST00000366960.3	+	13	3133	c.2983C>G	c.(2983-2985)Ctc>Gtc	p.L995V	RPS6KC1_ENST00000366959.3_Missense_Mutation_p.L983V|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.L783V|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543354.1_3'UTR	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	995	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		CTTTGAACTTCTCACTGGCAA	0.398																																						dbGAP											0													217.0	217.0	217.0					1																	213434972		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"""ribosomal protein S6 kinase, 52kD, polypeptide 1"""			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.2983C>G	1.37:g.213434972C>G	ENSP00000355927:p.Leu995Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_MIT,pfam_Phox,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Phox,smart_Phox,smart_MIT,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Phox,pfscan_Prot_kinase_cat_dom	p.L995V	ENST00000366960.3	37	c.2983	CCDS1513.1	1	.	.	.	.	.	.	.	.	.	.	C	19.07	3.755936	0.69648	.	.	ENSG00000136643	ENST00000543470;ENST00000366960;ENST00000366959	T;T;T	0.68479	-0.33;-0.33;-0.33	5.65	5.65	0.86999	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.070966	0.64402	N	0.000020	T	0.75910	0.3914	L	0.46741	1.465	0.80722	D	1	D;D;D	0.69078	0.996;0.997;0.997	P;D;D	0.65573	0.833;0.936;0.936	T	0.77576	-0.2536	10	0.87932	D	0	-40.3964	15.3924	0.74755	0.1398:0.8602:0.0:0.0	.	783;995;983	F5H7T0;Q96S38;B1APS8	.;KS6C1_HUMAN;.	V	783;995;983	ENSP00000442306:L783V;ENSP00000355927:L995V;ENSP00000355926:L983V	ENSP00000355926:L983V	L	+	1	0	RPS6KC1	211501595	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.882000	0.63121	2.668000	0.90789	0.644000	0.83932	CTC	RPS6KC1	-	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	ENSG00000136643		0.398	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	RPS6KC1	HGNC	protein_coding	OTTHUMT00000089690.3	192	0.00	0	C	NM_012424		213434972	213434972	+1	no_errors	ENST00000366960	ensembl	human	known	69_37n	missense	244	16.72	49	SNP	1.000	G
RPS9	6203	genome.wustl.edu	37	19	54705145	54705145	+	Silent	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:54705145G>T	ENST00000302907.4	+	2	265	c.93G>T	c.(91-93)ctG>ctT	p.L31L	RPS9_ENST00000391753.2_Silent_p.L31L|RPS9_ENST00000391752.1_Silent_p.L31L|RPS9_ENST00000441429.1_Silent_p.L31L|AC012314.20_ENST00000426213.1_RNA|RPS9_ENST00000402367.1_Silent_p.L31L|RPS9_ENST00000391751.3_Silent_p.L31L	NM_001013.3	NP_001004.2	P46781	RS9_HUMAN	ribosomal protein S9	31					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)|positive regulation of cell proliferation (GO:0008284)|regulation of translation (GO:0006417)|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)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)|translation regulator activity (GO:0045182)			NS(1)|breast(1)|kidney(11)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	20	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.18)		AGCTGAAGCTGATCGGTGAGT	0.582																																						dbGAP											0													40.0	41.0	41.0					19																	54705145		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U14971	CCDS12884.1	19q13.4	2011-04-05			ENSG00000170889	ENSG00000170889		"""S ribosomal proteins"""	10442	protein-coding gene	gene with protein product	"""40S ribosomal protein S9"""	603631				7772601, 9582194	Standard	XM_005259135		Approved	S9	uc002qdx.3	P46781	OTTHUMG00000066618	ENST00000302907.4:c.93G>T	19.37:g.54705145G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A9C4C1|Q4QRK7|Q9BVZ0	Silent	SNP	pfam_Ribosomal_S4/S9_N,pfam_S4_RNA-bd,smart_S4_RNA-bd,pfscan_S4_RNA-bd,tigrfam_Ribosomal_S4/S9_euk/arc	p.L31	ENST00000302907.4	37	c.93	CCDS12884.1	19																																																																																			RPS9	-	pfam_Ribosomal_S4/S9_N,tigrfam_Ribosomal_S4/S9_euk/arc	ENSG00000170889		0.582	RPS9-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS9	HGNC	protein_coding	OTTHUMT00000142834.3	58	0.00	0	G	NM_001013		54705145	54705145	+1	no_errors	ENST00000302907	ensembl	human	known	69_37n	silent	43	17.31	9	SNP	1.000	T
RPTN	126638	genome.wustl.edu	37	1	152129019	152129019	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:152129019C>G	ENST00000316073.3	-	3	620	c.556G>C	c.(556-558)Gag>Cag	p.E186Q		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	186	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.E186Q(1)		breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TCTTGTCTCTCAGACTGATTG	0.468																																						dbGAP											1	Substitution - Missense(1)	breast(1)											442.0	378.0	397.0					1																	152129019		1568	3582	5150	-	-	-	SO:0001583	missense	0			AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.556G>C	1.37:g.152129019C>G	ENSP00000317895:p.Glu186Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZBZ3	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.E186Q	ENST00000316073.3	37	c.556	CCDS41397.1	1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.619888	0.66787	.	.	ENSG00000215853	ENST00000316073	T	0.14893	2.47	5.17	4.22	0.49857	.	0.817187	0.09901	U	0.741073	T	0.12178	0.0296	L	0.61387	1.9	0.19575	N	0.999966	D	0.57257	0.979	P	0.52554	0.702	T	0.14531	-1.0469	10	0.16896	T	0.51	-0.0474	8.3676	0.32395	0.0:0.8819:0.0:0.118	.	186	Q6XPR3	RPTN_HUMAN	Q	186	ENSP00000317895:E186Q	ENSP00000317895:E186Q	E	-	1	0	RPTN	150395643	0.000000	0.05858	0.241000	0.24154	0.309000	0.27889	-0.035000	0.12205	1.086000	0.41228	0.542000	0.68232	GAG	RPTN	-	NULL	ENSG00000215853		0.468	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPTN	HGNC	protein_coding	OTTHUMT00000333867.1	218	0.00	0	C	XM_371312		152129019	152129019	-1	no_errors	ENST00000316073	ensembl	human	known	69_37n	missense	252	15.72	47	SNP	0.714	G
RPTOR	57521	genome.wustl.edu	37	17	78811744	78811744	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:78811744G>C	ENST00000306801.3	+	10	1521	c.1159G>C	c.(1159-1161)Gac>Cac	p.D387H	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000537330.1_Missense_Mutation_p.D202H|RPTOR_ENST00000544334.2_Missense_Mutation_p.D387H	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	387					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CCTGGCTGTTGACATCTGTCT	0.607																																						dbGAP											0													113.0	78.0	90.0					17																	78811744		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"""WD repeat domain containing"""	30287	protein-coding gene	gene with protein product	"""regulatory associated protein of mTOR"""	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.1159G>C	17.37:g.78811744G>C	ENSP00000307272:p.Asp387His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	pfam_HEAT,pfam_WD40_repeat,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Raptor	p.D387H	ENST00000306801.3	37	c.1159	CCDS11773.1	17	.	.	.	.	.	.	.	.	.	.	G	25.0	4.592475	0.86953	.	.	ENSG00000141564	ENST00000537330;ENST00000306801;ENST00000544334	T;T	0.64438	0.01;-0.1	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.85279	0.5660	H	0.95151	3.63	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.99	D	0.89703	0.3906	10	0.87932	D	0	.	16.3867	0.83507	0.0:0.0:1.0:0.0	.	387;202;387	F5H7J5;F5GXV9;Q8N122	.;.;RPTOR_HUMAN	H	202;387;387	ENSP00000307272:D387H;ENSP00000442479:D387H	ENSP00000307272:D387H	D	+	1	0	RPTOR	76426339	1.000000	0.71417	0.999000	0.59377	0.801000	0.45260	8.545000	0.90657	2.459000	0.83118	0.557000	0.71058	GAC	RPTOR	-	NULL	ENSG00000141564		0.607	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPTOR	HGNC	protein_coding	OTTHUMT00000438125.1	66	0.00	0	G	NM_020761		78811744	78811744	+1	no_errors	ENST00000306801	ensembl	human	known	69_37n	missense	36	29.41	15	SNP	1.000	C
RQCD1	9125	genome.wustl.edu	37	2	219449345	219449345	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:219449345C>T	ENST00000273064.6	+	4	706	c.331C>T	c.(331-333)Ctc>Ttc	p.L111F	RQCD1_ENST00000509807.2_Missense_Mutation_p.L111F|RQCD1_ENST00000542068.1_Missense_Mutation_p.L111F|RQCD1_ENST00000295701.5_Missense_Mutation_p.L111F	NM_005444.2	NP_005435.1	Q92600	RCD1_HUMAN	RCD1 required for cell differentiation1 homolog (S. pombe)	111					cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of ligand-dependent nuclear receptor transcription coactivator activity (GO:2000327)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)	15		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTCAGCGTTTCTCGCAGCACA	0.438																																						dbGAP											0													257.0	259.0	259.0					2																	219449345		2203	4300	6503	-	-	-	SO:0001583	missense	0			D87957	CCDS33379.1, CCDS63123.1	2q35	2010-04-23	2001-11-28		ENSG00000144580	ENSG00000144580			10445	protein-coding gene	gene with protein product	"""cancer/testis antigen 129"""	612054	"""rcd1 (required for cell differentiation, S.pombe) homolog 1"""			9447985	Standard	NM_001271634		Approved	RCD1, RCD1+, CNOT9, CT129	uc010zki.3	Q92600	OTTHUMG00000154750	ENST00000273064.6:c.331C>T	2.37:g.219449345C>T	ENSP00000273064:p.Leu111Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPI0|B5MDQ4|B7Z1E5|Q96IX4	Missense_Mutation	SNP	pfam_Cell_differentiation_Rcd1,superfamily_ARM-type_fold	p.L111F	ENST00000273064.6	37	c.331	CCDS33379.1	2	.	.	.	.	.	.	.	.	.	.	C	23.2	4.387351	0.82902	.	.	ENSG00000144580	ENST00000273064;ENST00000509807;ENST00000542068;ENST00000295701	T;T;T;T	0.59083	0.29;0.29;0.29;0.29	5.22	5.22	0.72569	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81837	0.4907	H	0.94264	3.515	0.80722	D	1	D;D;D	0.89917	0.997;0.999;1.0	D;D;D	0.78314	0.984;0.985;0.991	D	0.86304	0.1682	10	0.66056	D	0.02	-2.833	14.455	0.67411	0.0:0.9266:0.0:0.0734	.	111;111;111	B7Z1E5;Q92600;B5MDQ4	.;RCD1_HUMAN;.	F	111	ENSP00000273064:L111F;ENSP00000441357:L111F;ENSP00000443687:L111F;ENSP00000295701:L111F	ENSP00000273064:L111F	L	+	1	0	RQCD1	219157589	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.748000	0.62148	2.587000	0.87381	0.563000	0.77884	CTC	RQCD1	-	pfam_Cell_differentiation_Rcd1,superfamily_ARM-type_fold	ENSG00000144580		0.438	RQCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RQCD1	HGNC	protein_coding	OTTHUMT00000336920.1	139	0.00	0	C	NM_005444		219449345	219449345	+1	no_errors	ENST00000509807	ensembl	human	known	69_37n	missense	135	20.59	35	SNP	1.000	T
RRBP1	6238	genome.wustl.edu	37	20	17640694	17640694	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:17640694G>C	ENST00000377813.1	-	3	762	c.459C>G	c.(457-459)gtC>gtG	p.V153V	RRBP1_ENST00000360807.4_Silent_p.V153V|RRBP1_ENST00000377807.2_Silent_p.V153V|RRBP1_ENST00000246043.4_Silent_p.V153V|RRBP1_ENST00000455029.2_Intron			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	153					osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						CTACAGAGCTGACAGCTGGTT	0.557																																						dbGAP											0													92.0	75.0	81.0					20																	17640694		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"""ribosome binding protein 1 (dog 180kD homolog)"", ""ribosome binding protein 1 homolog 180kDa (dog)"""			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.459C>G	20.37:g.17640694G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Silent	SNP	pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom	p.V153	ENST00000377813.1	37	c.459		20																																																																																			RRBP1	-	pfam_Rib_rcpt_KP	ENSG00000125844		0.557	RRBP1-002	NOVEL	basic	protein_coding	RRBP1	HGNC	protein_coding	OTTHUMT00000078125.1	150	0.00	0	G	NM_001042576		17640694	17640694	-1	no_errors	ENST00000246043	ensembl	human	known	69_37n	silent	185	13.95	30	SNP	0.998	C
RRN3	54700	genome.wustl.edu	37	16	15159159	15159159	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:15159159C>G	ENST00000198767.6	-	16	1706	c.1623G>C	c.(1621-1623)agG>agC	p.R541S	RRN3_ENST00000327307.7_Missense_Mutation_p.R508S|RRN3_ENST00000563559.1_Missense_Mutation_p.R541S|RRN3_ENST00000540462.1_Missense_Mutation_p.R359S|PDXDC1_ENST00000535621.2_Intron|RRN3_ENST00000429751.2_Missense_Mutation_p.R511S	NM_018427.3	NP_060897.3	Q9NYV6	RRN3_HUMAN	RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae)	541	Interaction with TWISTNB.				cell proliferation (GO:0008283)|cytoplasm organization (GO:0007028)|gene expression (GO:0010467)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902254)|nucleolus organization (GO:0007000)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, initiation (GO:2000142)|ribosome biogenesis (GO:0042254)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)	20						CAGCGGTACTCCTAATGACTG	0.488																																						dbGAP											0													119.0	103.0	109.0					16																	15159159		2197	4300	6497	-	-	-	SO:0001583	missense	0			AF227156	CCDS10559.1, CCDS73833.1	16p13.11	2009-10-26	2006-04-04		ENSG00000085721	ENSG00000085721			30346	protein-coding gene	gene with protein product		605121	"""RRN3 RNA polymerase I transcription factor homolog (yeast)"""			10758157, 11250903	Standard	XM_005255375		Approved	DKFZp566E104	uc002dde.3	Q9NYV6	OTTHUMG00000129847	ENST00000198767.6:c.1623G>C	16.37:g.15159159C>G	ENSP00000198767:p.Arg541Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RTY9|B4E0J7|B4E3T2|Q3MHU9|Q6IPL4|Q9H4F0	Missense_Mutation	SNP	pfam_RNA_pol_I_trans_ini_fac_RRN3,superfamily_ARM-type_fold	p.R541S	ENST00000198767.6	37	c.1623	CCDS10559.1	16	.	.	.	.	.	.	.	.	.	.	.	6.606	0.480115	0.12581	.	.	ENSG00000085721	ENST00000198767;ENST00000429751;ENST00000327307;ENST00000540462	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.39	-1.03	0.10102	.	0.000000	0.85682	D	0.000000	T	0.44371	0.1290	L	0.43923	1.385	0.30042	N	0.812484	B;P;D	0.89917	0.119;0.728;1.0	B;B;D	0.91635	0.067;0.425;0.999	T	0.48234	-0.9053	10	0.11182	T	0.66	.	6.8709	0.24121	0.0:0.3721:0.1243:0.5036	.	511;442;541	F5H148;B4DZL9;Q9NYV6	.;.;RRN3_HUMAN	S	541;511;508;359	ENSP00000198767:R541S;ENSP00000402027:R511S;ENSP00000318484:R508S;ENSP00000437963:R359S	ENSP00000198767:R541S	R	-	3	2	RRN3	15066660	0.999000	0.42202	0.003000	0.11579	0.011000	0.07611	0.552000	0.23376	-0.393000	0.07739	-0.312000	0.09012	AGG	RRN3	-	pfam_RNA_pol_I_trans_ini_fac_RRN3	ENSG00000085721		0.488	RRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRN3	HGNC	protein_coding	OTTHUMT00000252087.2	75	0.00	0	C	NM_018427		15159159	15159159	-1	no_errors	ENST00000198767	ensembl	human	known	69_37n	missense	69	26.60	25	SNP	0.133	G
RRN3P2	653390	genome.wustl.edu	37	16	29127471	29127471	+	lincRNA	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:29127471G>C	ENST00000562902.1	+	0	24				RRN3P2_ENST00000564580.1_RNA																							CCATCAACCAGACAATCTGCT	0.463																																						dbGAP											0																																										-	-	-			0																															16.37:g.29127471G>C		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000562902.1	37	NULL		16																																																																																			RRN3P2	-	-	ENSG00000103472		0.463	RP11-426C22.5-001	KNOWN	basic	lincRNA	RRN3P2	HGNC	lincRNA	OTTHUMT00000433246.1	93	0.00	0	G			29127471	29127471	+1	no_errors	ENST00000427965	ensembl	human	known	69_37n	rna	57	26.92	21	SNP	1.000	C
RRP9	9136	genome.wustl.edu	37	3	51969380	51969380	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:51969380G>A	ENST00000232888.6	-	10	1022	c.949C>T	c.(949-951)Cag>Tag	p.Q317*		NM_004704.3	NP_004695.1	O43818	U3IP2_HUMAN	ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast)	317					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1)	21				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)		AAGACAAGCTGGGACTCCTCG	0.647																																						dbGAP											0													38.0	38.0	38.0					3																	51969380		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AJ001340	CCDS2837.1	3p21.31	2013-01-10	2008-02-26	2006-10-24	ENSG00000114767	ENSG00000114767		"""WD repeat domain containing"""	16829	protein-coding gene	gene with protein product			"""RNA, U3 small nucleolar interacting protein 2"""	RNU3IP2		9418896, 12032086	Standard	NM_004704		Approved	U3-55K	uc003dbw.2	O43818	OTTHUMG00000156930	ENST00000232888.6:c.949C>T	3.37:g.51969380G>A	ENSP00000232888:p.Gln317*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R996|Q8IZ30	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q317*	ENST00000232888.6	37	c.949	CCDS2837.1	3	.	.	.	.	.	.	.	.	.	.	G	32	5.164377	0.94727	.	.	ENSG00000114767	ENST00000232888	.	.	.	4.36	3.46	0.39613	.	0.062133	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-27.9476	13.1265	0.59358	0.0:0.0:0.8386:0.1614	.	.	.	.	X	317	.	ENSP00000232888:Q317X	Q	-	1	0	RRP9	51944420	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.955000	0.93058	1.026000	0.39733	0.561000	0.74099	CAG	RRP9	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000114767		0.647	RRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRP9	HGNC	protein_coding	OTTHUMT00000346637.1	22	0.00	0	G	NM_004704		51969380	51969380	-1	no_errors	ENST00000232888	ensembl	human	known	69_37n	nonsense	22	56.86	29	SNP	1.000	A
RSC1A1	6248	genome.wustl.edu	37	1	15987464	15987464	+	Silent	SNP	T	T	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:15987464T>C	ENST00000345034.1	+	1	1101	c.1101T>C	c.(1099-1101)agT>agC	p.S367S	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	367					intestinal absorption (GO:0050892)|negative regulation of transport (GO:0051051)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	brush border (GO:0005903)|cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel inhibitor activity (GO:0008200)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTGTTAGCAGTAAACCAGCTT	0.433																																						dbGAP											0													45.0	44.0	44.0					1																	15987464		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BN000122, X82877	CCDS161.1	1p36.1	1998-08-25			ENSG00000215695	ENSG00000215695			10458	protein-coding gene	gene with protein product		601966					Standard	NM_006511		Approved	RS1	uc010obn.2	Q92681	OTTHUMG00000067830	ENST00000345034.1:c.1101T>C	1.37:g.15987464T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBP5	Silent	SNP	superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.S367	ENST00000345034.1	37	c.1101	CCDS161.1	1																																																																																			RSC1A1	-	NULL	ENSG00000215695		0.433	RSC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSC1A1	HGNC	protein_coding	OTTHUMT00000145500.1	45	0.00	0	T	NM_006511		15987464	15987464	+1	no_errors	ENST00000345034	ensembl	human	known	69_37n	silent	32	25.58	11	SNP	0.999	C
RSPO2	340419	genome.wustl.edu	37	8	108913393	108913393	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:108913393C>G	ENST00000276659.5	-	6	1262	c.642G>C	c.(640-642)gaG>gaC	p.E214D	RSPO2_ENST00000378439.2_Missense_Mutation_p.E150D|RSPO2_ENST00000517781.1_Missense_Mutation_p.E150D|RSPO2_ENST00000517939.1_Missense_Mutation_p.E147D	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	214					bone mineralization (GO:0030282)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|lung growth (GO:0060437)|osteoblast differentiation (GO:0001649)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			tgttcctcttctccttcgcct	0.418																																						dbGAP											0													89.0	82.0	84.0					8																	108913393		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK123023	CCDS6307.1, CCDS64953.1	8q23.1	2014-01-30	2011-06-29		ENSG00000147655	ENSG00000147655		"""Endogenous ligands"""	28583	protein-coding gene	gene with protein product		610575	"""R-spondin 2 homolog (Xenopus laevis)"""			15469841	Standard	NM_178565		Approved	MGC35555	uc003yms.3	Q6UXX9	OTTHUMG00000164893	ENST00000276659.5:c.642G>C	8.37:g.108913393C>G	ENSP00000276659:p.Glu214Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVP0|Q4G0U4|Q8N6X6	Missense_Mutation	SNP	superfamily_Growth_fac_rcpt,superfamily_Thrombospondin_1_rpt,smart_Furin_repeat,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.E214D	ENST00000276659.5	37	c.642	CCDS6307.1	8	.	.	.	.	.	.	.	.	.	.	C	11.41	1.631108	0.28978	.	.	ENSG00000147655	ENST00000517939;ENST00000517781;ENST00000378439;ENST00000276659;ENST00000521502	T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22	5.95	4.13	0.48395	.	0.309734	0.34959	N	0.003551	T	0.54791	0.1880	N	0.08118	0	0.37345	D	0.910555	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.52823	-0.8524	10	0.20046	T	0.44	0.01	8.5643	0.33530	0.0:0.5606:0.3477:0.0916	.	214;150	Q6UXX9;Q6UXX9-3	RSPO2_HUMAN;.	D	147;150;150;214;147	ENSP00000428940:E147D;ENSP00000427937:E150D;ENSP00000367698:E150D;ENSP00000276659:E214D;ENSP00000428614:E147D	ENSP00000276659:E214D	E	-	3	2	RSPO2	108982569	0.999000	0.42202	1.000000	0.80357	0.888000	0.51559	1.273000	0.33121	1.531000	0.49152	0.650000	0.86243	GAG	RSPO2	-	NULL	ENSG00000147655		0.418	RSPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPO2	HGNC	protein_coding	OTTHUMT00000380830.1	157	0.00	0	C	NM_178565		108913393	108913393	-1	no_errors	ENST00000276659	ensembl	human	known	69_37n	missense	135	17.68	29	SNP	1.000	G
RSRC2	65117	genome.wustl.edu	37	12	123001897	123001897	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:123001897C>G	ENST00000331738.7	-	5	624	c.479G>C	c.(478-480)aGa>aCa	p.R160T	RSRC2_ENST00000354654.2_Missense_Mutation_p.R112T	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	160	Ser-rich.						poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		CTTCCTCTCTCTGCTTCTGGA	0.502																																						dbGAP											0													195.0	162.0	173.0					12																	123001897		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF161432	CCDS31920.1	12q24.31	2007-02-13			ENSG00000111011	ENSG00000111011			30559	protein-coding gene	gene with protein product						17203224	Standard	NM_023012		Approved	FLJ11021	uc001ucr.3	Q7L4I2	OTTHUMG00000167572	ENST00000331738.7:c.479G>C	12.37:g.123001897C>G	ENSP00000330188:p.Arg160Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6N040|Q6NW16|Q9H864	Missense_Mutation	SNP	NULL	p.R160T	ENST00000331738.7	37	c.479	CCDS31920.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.38|15.38	2.816454|2.816454	0.50527|0.50527	.|.	.|.	ENSG00000111011|ENSG00000111011	ENST00000526560|ENST00000331738;ENST00000354654;ENST00000418773;ENST00000344591	T|T;T;T	0.55930|0.37752	0.49|1.18;1.18;1.18	5.28|5.28	4.39|4.39	0.52855|0.52855	.|.	.|0.000000	.|0.64402	.|D	.|0.000004	T|T	0.19805|0.19805	0.0476|0.0476	N|N	0.19112|0.19112	0.55|0.55	0.35288|0.35288	D|D	0.781966|0.781966	.|P;B;P;B	.|0.36874	.|0.572;0.072;0.572;0.072	.|B;B;B;B	.|0.33960	.|0.173;0.107;0.173;0.107	T|T	0.20672|0.20672	-1.0268|-1.0268	7|10	0.87932|0.12103	D|T	0|0.63	.|.	10.3734|10.3734	0.44068|0.44068	0.0:0.9086:0.0:0.0914|0.0:0.9086:0.0:0.0914	.|.	.|160;112;160;101	.|F5GXM2;Q7L4I2-2;Q7L4I2;E1B6W4	.|.;.;RSRC2_HUMAN;.	Q|T	54|160;112;160;101	ENSP00000446470:E54Q|ENSP00000330188:R160T;ENSP00000346678:R112T;ENSP00000343315:R101T	ENSP00000446470:E54Q|ENSP00000330188:R160T	E|R	-|-	1|2	0|0	RSRC2|RSRC2	121567850|121567850	0.950000|0.950000	0.32346|0.32346	1.000000|1.000000	0.80357|0.80357	0.786000|0.786000	0.44442|0.44442	0.746000|0.746000	0.26275|0.26275	1.367000|1.367000	0.46095|0.46095	0.655000|0.655000	0.94253|0.94253	GAG|AGA	RSRC2	-	NULL	ENSG00000111011		0.502	RSRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSRC2	HGNC	protein_coding	OTTHUMT00000395096.3	191	0.00	0	C	NM_023012		123001897	123001897	-1	no_errors	ENST00000331738	ensembl	human	known	69_37n	missense	145	32.87	71	SNP	1.000	G
RTF1	23168	genome.wustl.edu	37	15	41749930	41749930	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:41749930C>T	ENST00000389629.4	+	4	530	c.518C>T	c.(517-519)tCa>tTa	p.S173L		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	173	Ser-rich.				DNA-templated transcription, initiation (GO:0006352)|endodermal cell fate commitment (GO:0001711)|histone H3-K4 trimethylation (GO:0080182)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		GACTCTTCCTCAGAAGATGAA	0.478																																						dbGAP											0													189.0	169.0	176.0					15																	41749930		2203	4300	6503	-	-	-	SO:0001583	missense	0			D87440	CCDS32200.2	15q14	2004-03-03	2005-07-20	2005-07-20	ENSG00000137815	ENSG00000137815			28996	protein-coding gene	gene with protein product		611633	"""KIAA0252"""	KIAA0252		15632063	Standard	NM_015138		Approved		uc001zny.3	Q92541	OTTHUMG00000133744	ENST00000389629.4:c.518C>T	15.37:g.41749930C>T	ENSP00000374280:p.Ser173Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96BX6	Missense_Mutation	SNP	pfam_Plus-3,smart_Plus3-dom_subgr	p.S173L	ENST00000389629.4	37	c.518	CCDS32200.2	15	.	.	.	.	.	.	.	.	.	.	C	36	5.742932	0.96873	.	.	ENSG00000137815	ENST00000389629	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.76385	0.3980	M	0.68317	2.08	0.80722	D	1	D	0.54601	0.967	P	0.60789	0.879	T	0.73503	-0.3962	9	0.37606	T	0.19	-6.3819	19.7706	0.96363	0.0:1.0:0.0:0.0	.	173	Q92541	RTF1_HUMAN	L	173	.	ENSP00000374280:S173L	S	+	2	0	RTF1	39537222	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	7.487000	0.81328	2.697000	0.92050	0.655000	0.94253	TCA	RTF1	-	NULL	ENSG00000137815		0.478	RTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTF1	HGNC	protein_coding	OTTHUMT00000258111.1	130	0.00	0	C	NM_015138		41749930	41749930	+1	no_errors	ENST00000389629	ensembl	human	known	69_37n	missense	123	20.65	32	SNP	1.000	T
WDR54	84058	genome.wustl.edu	37	2	74655445	74655445	+	IGR	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:74655445C>T	ENST00000348227.4	+	0	1147				RTKN_ENST00000233330.6_Missense_Mutation_p.E296K|RTKN_ENST00000272430.5_Missense_Mutation_p.E346K|RTKN_ENST00000305557.5_Missense_Mutation_p.E333K	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54											breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						TCTGCATCCTCAGGTTGCCGG	0.537																																						dbGAP											0													171.0	156.0	161.0					2																	74655445		2203	4300	6503	-	-	-	SO:0001628	intergenic_variant	0			AK023015	CCDS1940.1	2p13.1	2013-01-09			ENSG00000005448	ENSG00000005448		"""WD repeat domain containing"""	25770	protein-coding gene	gene with protein product						12477932	Standard	NM_032118		Approved	FLJ12953	uc002slb.3	Q9H977	OTTHUMG00000129951		2.37:g.74655445C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D6W5I3|Q53H85|Q86V45	Missense_Mutation	SNP	pfam_Pleckstrin_homology,pfam_HR1_rho-bd,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E346K	ENST00000348227.4	37	c.1036	CCDS1940.1	2	.	.	.	.	.	.	.	.	.	.	C	25.9	4.681965	0.88542	.	.	ENSG00000114993	ENST00000305557;ENST00000272430;ENST00000233330	T;T;T	0.73575	-0.76;-0.76;-0.76	4.84	3.97	0.46021	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.061993	0.64402	D	0.000006	T	0.80065	0.4555	M	0.68317	2.08	0.48341	D	0.999634	D;P	0.56287	0.975;0.894	P;P	0.58660	0.843;0.678	T	0.80402	-0.1397	10	0.59425	D	0.04	.	8.9702	0.35901	0.0:0.8998:0.0:0.1002	.	346;333	Q9BST9;Q9BST9-2	RTKN_HUMAN;.	K	333;346;296	ENSP00000305298:E333K;ENSP00000272430:E346K;ENSP00000233330:E296K	ENSP00000233330:E296K	E	-	1	0	RTKN	74508953	0.892000	0.30473	0.505000	0.27651	0.969000	0.65631	3.074000	0.50065	1.293000	0.44690	0.655000	0.94253	GAG	RTKN	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000114993		0.537	WDR54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTKN	HGNC	protein_coding	OTTHUMT00000252213.1	112	0.00	0	C	NM_032118		74655445	74655445	-1	no_errors	ENST00000272430	ensembl	human	known	69_37n	missense	102	20.93	27	SNP	0.998	T
RTN1	6252	genome.wustl.edu	37	14	60213020	60213020	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:60213020C>T	ENST00000267484.5	-	2	756	c.421G>A	c.(421-423)Gag>Aag	p.E141K		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	141					neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		CCCAGCTCCTCAGGGCTCTCT	0.478																																						dbGAP											0													51.0	49.0	50.0					14																	60213020		2203	4300	6503	-	-	-	SO:0001583	missense	0			L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"""neuroendocrine-specific protein"""	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.421G>A	14.37:g.60213020C>T	ENSP00000267484:p.Glu141Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	pfam_Reticulon,pfscan_Reticulon	p.E141K	ENST00000267484.5	37	c.421	CCDS9740.1	14	.	.	.	.	.	.	.	.	.	.	C	13.50	2.256098	0.39896	.	.	ENSG00000139970	ENST00000267484;ENST00000433623	T	0.30714	1.52	5.7	3.89	0.44902	.	0.493831	0.22737	N	0.056260	T	0.27205	0.0667	L	0.52364	1.645	0.33823	D	0.629304	B	0.24132	0.098	B	0.17979	0.02	T	0.27640	-1.0068	10	0.28530	T	0.3	.	12.0006	0.53228	0.0:0.8604:0.0:0.1396	.	141	Q16799	RTN1_HUMAN	K	141;67	ENSP00000267484:E141K	ENSP00000267484:E141K	E	-	1	0	RTN1	59282773	1.000000	0.71417	1.000000	0.80357	0.621000	0.37620	3.153000	0.50685	0.772000	0.33382	0.557000	0.71058	GAG	RTN1	-	NULL	ENSG00000139970		0.478	RTN1-001	KNOWN	basic|CCDS	protein_coding	RTN1	HGNC	protein_coding	OTTHUMT00000072278.2	49	0.00	0	C			60213020	60213020	-1	no_errors	ENST00000267484	ensembl	human	known	69_37n	missense	56	17.65	12	SNP	1.000	T
RUFY2	55680	genome.wustl.edu	37	10	70138408	70138408	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:70138408G>C	ENST00000399200.2	-	12	1227	c.1123C>G	c.(1123-1125)Caa>Gaa	p.Q375E	RUFY2_ENST00000602465.1_Intron|RUFY2_ENST00000454950.2_Missense_Mutation_p.Q351E|RUFY2_ENST00000265865.3_5'Flank|RUFY2_ENST00000472394.2_5'Flank|RUFY2_ENST00000388768.2_Intron	NM_001042417.1	NP_001035882.1	Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	275						nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						GTCCTAGTTTGAGTTAACAAA	0.353																																						dbGAP											0													86.0	75.0	78.0					10																	70138408		1887	4121	6008	-	-	-	SO:0001583	missense	0			AF461266	CCDS41534.1, CCDS44414.1, CCDS60544.1	10q22.2	2007-01-29			ENSG00000204130	ENSG00000204130		"""Zinc fingers, FYVE domain containing"""	19761	protein-coding gene	gene with protein product		610328				11877430	Standard	NM_001042417		Approved	RABIP4R, FLJ10063, KIAA1537, ZFYVE13	uc001job.3	Q8WXA3	OTTHUMG00000018353	ENST00000399200.2:c.1123C>G	10.37:g.70138408G>C	ENSP00000382151:p.Gln375Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXB2|B4DFR0|Q5TC48|Q8IW33|Q96P51|Q9P1Z1	Missense_Mutation	SNP	pfam_Run	p.Q375E	ENST00000399200.2	37	c.1123	CCDS44414.1	10	.	.	.	.	.	.	.	.	.	.	G	14.34	2.506758	0.44558	.	.	ENSG00000204130	ENST00000399200;ENST00000454950	T;T	0.31769	1.96;1.48	5.87	5.87	0.94306	.	.	.	.	.	T	0.41719	0.1171	.	.	.	0.38199	D	0.940135	P;P	0.49447	0.924;0.811	P;P	0.62298	0.9;0.83	T	0.06552	-1.0820	8	0.02654	T	1	.	20.1935	0.98237	0.0:0.0:1.0:0.0	.	351;375	B4DFR0;Q8WXA3-4	.;.	E	375;351	ENSP00000382151:Q375E;ENSP00000404986:Q351E	ENSP00000382151:Q375E	Q	-	1	0	RUFY2	69808414	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.407000	0.97325	2.779000	0.95612	0.591000	0.81541	CAA	RUFY2	-	NULL	ENSG00000204130		0.353	RUFY2-202	KNOWN	basic|CCDS	protein_coding	RUFY2	HGNC	protein_coding		92	0.00	0	G	NM_017987		70138408	70138408	-1	no_errors	ENST00000399200	ensembl	human	known	69_37n	missense	58	28.40	23	SNP	1.000	C
RUNX1T1	862	genome.wustl.edu	37	8	93017505	93017505	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:93017505C>G	ENST00000523629.1	-	6	1033	c.579G>C	c.(577-579)caG>caC	p.Q193H	RUNX1T1_ENST00000521553.1_Missense_Mutation_p.Q156H|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.Q204H|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.Q166H|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.Q193H|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.Q156H|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.Q156H|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.Q166H|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.Q156H	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	193	TAFH. {ECO:0000255|PROSITE- ProRule:PRU00440}.				fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GGAGCTCACGCTGCAGCAGGG	0.552																																						dbGAP											0													110.0	88.0	96.0					8																	93017505		2203	4300	6503	-	-	-	SO:0001583	missense	0			D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.579G>C	8.37:g.93017505C>G	ENSP00000428543:p.Gln193His	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8	p.Q204H	ENST00000523629.1	37	c.612	CCDS6256.1	8	.	.	.	.	.	.	.	.	.	.	C	19.92	3.916490	0.73098	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844;ENST00000521553;ENST00000518992;ENST00000521054	T;T;T;T;T;T;T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78	5.67	3.55	0.40652	TAFH/NHR1 (3);	0.000000	0.85682	D	0.000000	T	0.66925	0.2839	M	0.73962	2.25	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.83275	0.991;0.996;0.994	T	0.72144	-0.4379	10	0.87932	D	0	-14.1891	13.2963	0.60298	0.0:0.8496:0.0:0.1504	.	204;193;166	E7EPN4;Q06455;Q06455-2	.;MTG8_HUMAN;.	H	193;166;193;156;156;156;204;166;156;193;156	ENSP00000428543:Q193H;ENSP00000379520:Q166H;ENSP00000265814:Q193H;ENSP00000353504:Q156H;ENSP00000390137:Q156H;ENSP00000428742:Q156H;ENSP00000402257:Q204H;ENSP00000430728:Q166H;ENSP00000429728:Q156H;ENSP00000431094:Q193H;ENSP00000427763:Q156H	ENSP00000265814:Q193H	Q	-	3	2	RUNX1T1	93086681	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.068000	0.71201	1.405000	0.46838	-0.136000	0.14681	CAG	RUNX1T1	-	pfam_TAFH_NHR1,smart_TAFH_NHR1,pfscan_TAFH_NHR1,prints_ETO	ENSG00000079102		0.552	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RUNX1T1	HGNC	protein_coding	OTTHUMT00000377045.3	95	0.00	0	C	NM_004349, NM_175635		93017505	93017505	-1	no_errors	ENST00000436581	ensembl	human	known	69_37n	missense	62	57.53	84	SNP	1.000	G
RUNX2	860	genome.wustl.edu	37	6	45399733	45399733	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:45399733G>T	ENST00000371438.1	+	3	915	c.557G>T	c.(556-558)aGa>aTa	p.R186I	RUNX2_ENST00000371432.3_Missense_Mutation_p.R172I|RUNX2_ENST00000359524.5_Missense_Mutation_p.R172I|RUNX2_ENST00000352853.5_Missense_Mutation_p.R254I|RUNX2_ENST00000371436.6_Missense_Mutation_p.R186I|RUNX2_ENST00000576263.1_Missense_Mutation_p.R186I|RUNX2_ENST00000541979.1_Missense_Mutation_p.R254I|RUNX2_ENST00000465038.2_Missense_Mutation_p.R186I	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	186	Runt. {ECO:0000255|PROSITE- ProRule:PRU00399}.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						AACGATCTGAGATTTGTGGGC	0.433																																						dbGAP											0													81.0	82.0	82.0					6																	45399733		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.557G>T	6.37:g.45399733G>T	ENSP00000360493:p.Arg186Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	O14614|O14615|O95181	Missense_Mutation	SNP	pfam_AML1/Runt_N,pfam_RunxI,superfamily_p53-like_TF_DNA-bd,pfscan_AML1/Runt_N,prints_AML1_Runt	p.R254I	ENST00000371438.1	37	c.761	CCDS43467.2	6	.	.	.	.	.	.	.	.	.	.	G	28.6	4.935015	0.92458	.	.	ENSG00000124813	ENST00000465038;ENST00000352853;ENST00000541979;ENST00000371438;ENST00000371436;ENST00000359524;ENST00000371432	D;D;D;D;D;D;D	0.99714	-6.5;-6.5;-6.5;-6.5;-6.5;-6.5;-6.5	5.23	5.23	0.72850	Acute myeloid leukemia 1 (AML 1)/Runt (2);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99806	0.9916	M	0.91300	3.195	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.97110	0.987;0.991;1.0	D	0.97219	0.9876	10	0.87932	D	0	-1.6948	19.1642	0.93548	0.0:0.0:1.0:0.0	.	254;186;172	F6RGB9;Q13950;Q13950-2	.;RUNX2_HUMAN;.	I	186;254;254;186;186;172;172	ENSP00000420707:R186I;ENSP00000319087:R254I;ENSP00000446290:R254I;ENSP00000360493:R186I;ENSP00000360491:R186I;ENSP00000352514:R172I;ENSP00000360486:R172I	ENSP00000319087:R254I	R	+	2	0	RUNX2	45507711	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.375000	0.97178	2.600000	0.87896	0.650000	0.86243	AGA	RUNX2	-	pfam_AML1/Runt_N,superfamily_p53-like_TF_DNA-bd,pfscan_AML1/Runt_N,prints_AML1_Runt	ENSG00000124813		0.433	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	RUNX2	HGNC	protein_coding	OTTHUMT00000040755.2	116	0.00	0	G	NM_004348		45399733	45399733	+1	no_errors	ENST00000352853	ensembl	human	known	69_37n	missense	51	28.17	20	SNP	1.000	T
RWDD4	201965	genome.wustl.edu	37	4	184577115	184577115	+	Splice_Site	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:184577115C>G	ENST00000326397.5	-	2	297		c.e2-1		RWDD4_ENST00000510968.1_Intron|RWDD4_ENST00000512740.1_Intron|RWDD4_ENST00000327570.9_Splice_Site|RNU6-479P_ENST00000516348.1_RNA	NM_152682.2	NP_689895.2	Q6NW29	RWDD4_HUMAN	RWD domain containing 4											large_intestine(2)|lung(4)|ovary(1)|prostate(1)	8						CTAGTTCCATCTGAAATAAAG	0.338																																						dbGAP											0													64.0	71.0	68.0					4																	184577115		2203	4297	6500	-	-	-	SO:0001630	splice_region_variant	0			BC017472	CCDS34111.1	4q35.1	2012-12-07	2010-09-30	2010-09-30	ENSG00000182552	ENSG00000182552			23750	protein-coding gene	gene with protein product			"""family with sequence similarity 28, member A"", ""RWD domain containing 4A"""	FAM28A, RWDD4A			Standard	NM_152682		Approved	MGC10198	uc003ivt.1	Q6NW29	OTTHUMG00000160632	ENST00000326397.5:c.25-1G>C	4.37:g.184577115C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDE9|B4DDP2|Q75LA9|Q8WVW2	Splice_Site	SNP	-	e2-1	ENST00000326397.5	37	c.25-1	CCDS34111.1	4	.	.	.	.	.	.	.	.	.	.	C	19.29	3.799155	0.70567	.	.	ENSG00000182552	ENST00000326397;ENST00000327570	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1172	0.93346	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RWDD4	184814109	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	6.898000	0.75676	2.515000	0.84797	0.557000	0.71058	.	RWDD4	-	-	ENSG00000182552		0.338	RWDD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RWDD4	HGNC	protein_coding	OTTHUMT00000361499.2	87	0.00	0	C	NM_152682	Intron	184577115	184577115	-1	no_errors	ENST00000326397	ensembl	human	known	69_37n	splice_site	77	20.62	20	SNP	1.000	G
RXRG	6258	genome.wustl.edu	37	1	165386387	165386387	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:165386387G>A	ENST00000359842.5	-	4	815	c.513C>T	c.(511-513)ctC>ctT	p.L171L	RXRG_ENST00000470566.1_5'UTR	NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	171					gene expression (GO:0010467)|heart development (GO:0007507)|neuron differentiation (GO:0030182)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|skeletal muscle tissue development (GO:0007519)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	9-cis retinoic acid receptor activity (GO:0004886)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tretinoin(DB00755)	ACGTGTAGATGAGGTCCTTCC	0.478																																						dbGAP											0													197.0	172.0	180.0					1																	165386387		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U38480	CCDS1248.1, CCDS72970.1	1q22-q23	2013-01-16			ENSG00000143171	ENSG00000143171		"""Nuclear hormone receptors"""	10479	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 3"""	180247				8034312	Standard	NR_033824		Approved	NR2B3	uc001gda.3	P48443	OTTHUMG00000034626	ENST00000359842.5:c.513C>T	1.37:g.165386387G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NIP1|Q6IBU7	Silent	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_DUF3345,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF	p.L171	ENST00000359842.5	37	c.513	CCDS1248.1	1																																																																																			RXRG	-	pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt	ENSG00000143171		0.478	RXRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RXRG	HGNC	protein_coding	OTTHUMT00000083794.2	89	0.00	0	G	NM_006917		165386387	165386387	-1	no_errors	ENST00000359842	ensembl	human	known	69_37n	silent	116	29.70	49	SNP	0.921	A
RYBP	23429	genome.wustl.edu	37	3	72427764	72427764	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:72427764C>G	ENST00000477973.2	-	4	723	c.724G>C	c.(724-726)Gag>Cag	p.E242Q		NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN	RING1 and YY1 binding protein	0					apoptotic process (GO:0006915)|histone H2A monoubiquitination (GO:0035518)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			prostate(1)|upper_aerodigestive_tract(1)	2		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		GTGCAGTGCTCCTGTCCACGT	0.483																																						dbGAP											0													113.0	108.0	110.0					3																	72427764		2058	4187	6245	-	-	-	SO:0001583	missense	0			AF179286		3p14.2	2008-07-18			ENSG00000163602	ENSG00000163602			10480	protein-coding gene	gene with protein product	"""YY1 and E4TF1 associated factor 1"", ""ring1 interactor RYBP"", ""apoptin-associating protein 1"", ""death effector domain-associated factor"""	607535				10369680	Standard	NM_012234		Approved	YEAF1, AAP1, DEDAF	uc003dpe.3	Q8N488	OTTHUMG00000159190	ENST00000477973.2:c.724G>C	3.37:g.72427764C>G	ENSP00000419494:p.Glu242Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9P2W5|Q9UMW4	Missense_Mutation	SNP	pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2	p.E242Q	ENST00000477973.2	37	c.724		3	.	.	.	.	.	.	.	.	.	.	C	18.42	3.619364	0.66787	.	.	ENSG00000163602	ENST00000477973	.	.	.	5.86	3.4	0.38934	.	.	.	.	.	T	0.58538	0.2129	M	0.77486	2.375	.	.	.	.	.	.	.	.	.	T	0.66578	-0.5888	4	.	.	.	-9.0662	4.6702	0.12685	0.0:0.496:0.0:0.504	.	.	.	.	Q	242	.	.	E	-	1	0	RYBP	72510454	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.153000	0.42282	1.364000	0.46038	0.650000	0.86243	GAG	RYBP	-	NULL	ENSG00000163602		0.483	RYBP-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	RYBP	HGNC	protein_coding	OTTHUMT00000353762.3	84	0.00	0	C	NM_012234		72427764	72427764	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000477973	ensembl	human	known	69_37n	missense	91	22.22	26	SNP	1.000	G
RYBP	23429	genome.wustl.edu	37	3	72427768	72427768	+	Silent	SNP	T	T	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:72427768T>C	ENST00000477973.2	-	4	719	c.720A>G	c.(718-720)ggA>ggG	p.G240G		NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN	RING1 and YY1 binding protein	0					apoptotic process (GO:0006915)|histone H2A monoubiquitination (GO:0035518)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			prostate(1)|upper_aerodigestive_tract(1)	2		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		AGTGCTCCTGTCCACGTTTTT	0.478																																						dbGAP											0													111.0	105.0	107.0					3																	72427768		2051	4183	6234	-	-	-	SO:0001819	synonymous_variant	0			AF179286		3p14.2	2008-07-18			ENSG00000163602	ENSG00000163602			10480	protein-coding gene	gene with protein product	"""YY1 and E4TF1 associated factor 1"", ""ring1 interactor RYBP"", ""apoptin-associating protein 1"", ""death effector domain-associated factor"""	607535				10369680	Standard	NM_012234		Approved	YEAF1, AAP1, DEDAF	uc003dpe.3	Q8N488	OTTHUMG00000159190	ENST00000477973.2:c.720A>G	3.37:g.72427768T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9P2W5|Q9UMW4	Silent	SNP	pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2	p.G240	ENST00000477973.2	37	c.720		3																																																																																			RYBP	-	NULL	ENSG00000163602		0.478	RYBP-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	RYBP	HGNC	protein_coding	OTTHUMT00000353762.3	83	0.00	0	T	NM_012234		72427768	72427768	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000477973	ensembl	human	known	69_37n	silent	99	12.39	14	SNP	1.000	C
RYR1	6261	genome.wustl.edu	37	19	38979988	38979988	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:38979988G>T	ENST00000359596.3	+	35	5719	c.5719G>T	c.(5719-5721)Gaa>Taa	p.E1907*	RYR1_ENST00000360985.3_Nonsense_Mutation_p.E1907*|RYR1_ENST00000355481.4_Nonsense_Mutation_p.E1907*			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1907	6 X approximate repeats.|Glu-rich (acidic).				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	ggaagatgaggaaaaagagga	0.527																																						dbGAP											0													141.0	108.0	119.0					19																	38979988		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.5719G>T	19.37:g.38979988G>T	ENSP00000352608:p.Glu1907*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16314|Q16368|Q9NPK1|Q9P1U4	Nonsense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.E1907*	ENST00000359596.3	37	c.5719	CCDS33011.1	19	.	.	.	.	.	.	.	.	.	.	g	46	12.510045	0.99674	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	.	.	.	4.06	2.98	0.34508	.	0.282905	0.20570	U	0.089742	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	11.0726	0.48012	0.097:0.0:0.903:0.0	.	.	.	.	X	1907	.	ENSP00000347667:E1907X	E	+	1	0	RYR1	43671828	1.000000	0.71417	0.799000	0.32177	0.790000	0.44656	2.981000	0.49329	2.073000	0.62155	0.552000	0.68991	GAA	RYR1	-	NULL	ENSG00000196218		0.527	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	128	0.00	0	G			38979988	38979988	+1	no_errors	ENST00000359596	ensembl	human	known	69_37n	nonsense	82	27.43	31	SNP	0.524	T
RYR1	6261	genome.wustl.edu	37	19	39075591	39075591	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:39075591G>C	ENST00000359596.3	+	102	14655	c.14655G>C	c.(14653-14655)ctG>ctC	p.L4885L	RYR1_ENST00000360985.3_Silent_p.L4880L|RYR1_ENST00000355481.4_Silent_p.L4880L			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4885					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	AGTGTTACCTGTTTCACATGT	0.582																																						dbGAP											0													171.0	155.0	161.0					19																	39075591		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.14655G>C	19.37:g.39075591G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.L4885	ENST00000359596.3	37	c.14655	CCDS33011.1	19																																																																																			RYR1	-	pfam_Ion_trans_dom	ENSG00000196218		0.582	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	109	0.00	0	G			39075591	39075591	+1	no_errors	ENST00000359596	ensembl	human	known	69_37n	silent	124	22.98	37	SNP	0.987	C
RYR2	6262	genome.wustl.edu	37	1	237982376	237982376	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:237982376G>T	ENST00000366574.2	+	101	14791	c.14474G>T	c.(14473-14475)gGa>gTa	p.G4825V	RYR2_ENST00000360064.6_Missense_Mutation_p.G4831V|RYR2_ENST00000542537.1_Missense_Mutation_p.G4809V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4825					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CGTGCTGGAGGAGGGATCGGG	0.408																																						dbGAP											0													189.0	189.0	189.0					1																	237982376		1934	4125	6059	-	-	-	SO:0001583	missense	0			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.14474G>T	1.37:g.237982376G>T	ENSP00000355533:p.Gly4825Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.G4831V	ENST00000366574.2	37	c.14492	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.870645	0.72065	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000536033	D;D;D	0.98362	-4.89;-4.89;-4.89	5.58	5.58	0.84498	Ion transport (1);	0.000000	0.64402	U	0.000013	D	0.99342	0.9769	H	0.95043	3.615	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98776	1.0730	10	0.87932	D	0	.	19.5837	0.95482	0.0:0.0:1.0:0.0	.	258;4825	F5H3C7;Q92736	.;RYR2_HUMAN	V	4825;4831;4809;258	ENSP00000355533:G4825V;ENSP00000353174:G4831V;ENSP00000443798:G4809V	ENSP00000353174:G4831V	G	+	2	0	RYR2	236048999	1.000000	0.71417	0.990000	0.47175	0.270000	0.26580	9.813000	0.99286	2.630000	0.89119	0.655000	0.94253	GGA	RYR2	-	pfam_Ion_trans_dom	ENSG00000198626		0.408	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	205	0.00	0	G	NM_001035		237982376	237982376	+1	no_errors	ENST00000360064	ensembl	human	known	69_37n	missense	225	16.97	46	SNP	1.000	T
RYR3	6263	genome.wustl.edu	37	15	33922234	33922234	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:33922234G>A	ENST00000389232.4	+	22	2843	c.2773G>A	c.(2773-2775)Gaa>Aaa	p.E925K	RYR3_ENST00000415757.3_Missense_Mutation_p.E925K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	925	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AATGTCAACTGAAACCTTAAA	0.353																																						dbGAP											0													76.0	70.0	72.0					15																	33922234		1834	4083	5917	-	-	-	SO:0001583	missense	0				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.2773G>A	15.37:g.33922234G>A	ENSP00000373884:p.Glu925Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O15175|Q15412	Missense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.E925K	ENST00000389232.4	37	c.2773	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	G	32	5.176034	0.94846	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.93247	-3.19;-3.19	5.35	5.35	0.76521	Ryanodine receptor Ryr (1);	0.000000	0.85682	D	0.000000	D	0.97374	0.9141	M	0.90019	3.08	0.80722	D	1	D;D	0.61697	0.99;0.99	D;P	0.72982	0.979;0.814	D	0.97820	1.0256	10	0.87932	D	0	.	19.2593	0.93961	0.0:0.0:1.0:0.0	.	925;925	Q15413-2;Q15413	.;RYR3_HUMAN	K	925	ENSP00000373884:E925K;ENSP00000399610:E925K	ENSP00000354735:E925K	E	+	1	0	RYR3	31709526	1.000000	0.71417	0.991000	0.47740	0.942000	0.58702	9.146000	0.94640	2.770000	0.95276	0.650000	0.86243	GAA	RYR3	-	pfam_Ryanodine_rcpt	ENSG00000198838		0.353	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	93	0.00	0	G			33922234	33922234	+1	no_errors	ENST00000389232	ensembl	human	known	69_37n	missense	46	48.31	43	SNP	1.000	A
RYR3	6263	genome.wustl.edu	37	15	33954549	33954549	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:33954549C>G	ENST00000389232.4	+	35	4888	c.4818C>G	c.(4816-4818)ttC>ttG	p.F1606L	RYR3_ENST00000415757.3_Missense_Mutation_p.F1606L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1606	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GATCTGGTTTCTATGACCTGC	0.562																																						dbGAP											0													74.0	71.0	72.0					15																	33954549		2004	4164	6168	-	-	-	SO:0001583	missense	0				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.4818C>G	15.37:g.33954549C>G	ENSP00000373884:p.Phe1606Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	O15175|Q15412	Missense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.F1606L	ENST00000389232.4	37	c.4818	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	C	16.85	3.237638	0.58886	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.72725	-0.68;-0.68	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.72716	0.3495	M	0.76170	2.325	0.48830	D	0.999717	B;B	0.33477	0.061;0.413	B;B	0.38106	0.067;0.265	T	0.76399	-0.2973	10	0.87932	D	0	.	12.7085	0.57076	0.0:0.9216:0.0:0.0784	.	1606;1606	Q15413-2;Q15413	.;RYR3_HUMAN	L	1606	ENSP00000373884:F1606L;ENSP00000399610:F1606L	ENSP00000354735:F1606L	F	+	3	2	RYR3	31741841	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.882000	0.56160	2.563000	0.86464	0.650000	0.86243	TTC	RYR3	-	NULL	ENSG00000198838		0.562	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	91	0.00	0	C			33954549	33954549	+1	no_errors	ENST00000389232	ensembl	human	known	69_37n	missense	67	29.47	28	SNP	1.000	G
RYR3	6263	genome.wustl.edu	37	15	34134146	34134146	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:34134146G>C	ENST00000389232.4	+	91	13189	c.13119G>C	c.(13117-13119)aaG>aaC	p.K4373N	RYR3_ENST00000415757.3_Missense_Mutation_p.K4368N	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4373					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CAAAAAAGAAGAAGCGGCGGT	0.463																																						dbGAP											0													71.0	80.0	77.0					15																	34134146		1893	4112	6005	-	-	-	SO:0001583	missense	0				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.13119G>C	15.37:g.34134146G>C	ENSP00000373884:p.Lys4373Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O15175|Q15412	Missense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.K4373N	ENST00000389232.4	37	c.13119	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	G	11.53	1.664944	0.29604	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	D	0.94280	-3.39	5.55	5.55	0.83447	Ryanodine Receptor TM 4-6 (1);	0.187553	0.47455	D	0.000235	D	0.92306	0.7559	L	0.49126	1.545	0.34802	D	0.736879	P;P	0.45827	0.867;0.645	P;P	0.47346	0.544;0.53	D	0.93853	0.7147	10	0.38643	T	0.18	.	13.9062	0.63836	0.0721:0.0:0.9279:0.0	.	4368;4373	Q15413-2;Q15413	.;RYR3_HUMAN	N	4373;4369	ENSP00000373884:K4373N	ENSP00000354735:K4369N	K	+	3	2	RYR3	31921438	1.000000	0.71417	1.000000	0.80357	0.104000	0.19210	2.546000	0.45778	2.894000	0.99253	0.655000	0.94253	AAG	RYR3	-	pfam_Ryanrecept_TM4-6,superfamily_4_helix_cytokine-like_core	ENSG00000198838		0.463	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	140	0.00	0	G			34134146	34134146	+1	no_errors	ENST00000389232	ensembl	human	known	69_37n	missense	78	17.89	17	SNP	1.000	C
SACS	26278	genome.wustl.edu	37	13	23904867	23904867	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr13:23904867G>A	ENST00000382292.3	-	9	13421	c.13148C>T	c.(13147-13149)tCa>tTa	p.S4383L	SACS_ENST00000402364.1_Missense_Mutation_p.S3633L|SACS_ENST00000382298.3_Missense_Mutation_p.S4383L			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	4383	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.S4383*(1)|p.S4236*(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TCGGGATGCTGAGGTTGAAAA	0.378																																						dbGAP											2	Substitution - Nonsense(2)	urinary_tract(2)											100.0	101.0	101.0					13																	23904867		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.13148C>T	13.37:g.23904867G>A	ENSP00000371729:p.Ser4383Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	pfam_HEPN,pfam_Ubiquitin,superfamily_ATPase-like_ATP-bd,superfamily_DnaJ_N,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_N,pfscan_Ubiquitin_supergroup	p.S4383L	ENST00000382292.3	37	c.13148	CCDS9300.2	13	.	.	.	.	.	.	.	.	.	.	G	17.93	3.509728	0.64522	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.89050	-2.31;-2.46;-2.31	5.8	5.8	0.92144	Heat shock protein DnaJ, N-terminal (1);	0.062950	0.64402	D	0.000003	D	0.85141	0.5629	L	0.29908	0.895	0.58432	D	0.999996	P	0.39282	0.666	B	0.37508	0.252	D	0.86112	0.1563	10	0.66056	D	0.02	.	20.062	0.97678	0.0:0.0:1.0:0.0	.	4383	Q9NZJ4	SACS_HUMAN	L	4383;3633;4383	ENSP00000371729:S4383L;ENSP00000385844:S3633L;ENSP00000371735:S4383L	ENSP00000371729:S4383L	S	-	2	0	SACS	22802867	1.000000	0.71417	0.987000	0.45799	0.943000	0.58893	9.869000	0.99810	2.730000	0.93505	0.563000	0.77884	TCA	SACS	-	pfscan_DnaJ_N	ENSG00000151835		0.378	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	HGNC	protein_coding	OTTHUMT00000044148.3	108	0.00	0	G	NM_014363		23904867	23904867	-1	no_errors	ENST00000382292	ensembl	human	known	69_37n	missense	72	19.10	17	SNP	1.000	A
SACS	26278	genome.wustl.edu	37	13	23910337	23910337	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr13:23910337C>G	ENST00000382292.3	-	9	7951	c.7678G>C	c.(7678-7680)Gaa>Caa	p.E2560Q	SACS_ENST00000402364.1_Missense_Mutation_p.E1810Q|SACS_ENST00000382298.3_Missense_Mutation_p.E2560Q			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2560					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAACAGATTTCTGTCGCCTTT	0.393																																						dbGAP											0													109.0	110.0	110.0					13																	23910337		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.7678G>C	13.37:g.23910337C>G	ENSP00000371729:p.Glu2560Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	pfam_HEPN,pfam_Ubiquitin,superfamily_ATPase-like_ATP-bd,superfamily_DnaJ_N,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_N,pfscan_Ubiquitin_supergroup	p.E2560Q	ENST00000382292.3	37	c.7678	CCDS9300.2	13	.	.	.	.	.	.	.	.	.	.	C	21.6	4.172795	0.78452	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.90004	-2.6;-2.6;-2.6	5.59	5.59	0.84812	ATPase-like, ATP-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.92244	0.7540	L	0.41236	1.265	0.54753	D	0.999988	D	0.89917	1.0	D	0.78314	0.991	D	0.91602	0.5296	10	0.44086	T	0.13	.	19.592	0.95518	0.0:1.0:0.0:0.0	.	2560	Q9NZJ4	SACS_HUMAN	Q	2560;1810;2560	ENSP00000371729:E2560Q;ENSP00000385844:E1810Q;ENSP00000371735:E2560Q	ENSP00000371729:E2560Q	E	-	1	0	SACS	22808337	1.000000	0.71417	0.978000	0.43139	0.957000	0.61999	7.484000	0.81180	2.629000	0.89072	0.462000	0.41574	GAA	SACS	-	superfamily_ATPase-like_ATP-bd	ENSG00000151835		0.393	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	HGNC	protein_coding	OTTHUMT00000044148.3	94	0.00	0	C	NM_014363		23910337	23910337	-1	no_errors	ENST00000382292	ensembl	human	known	69_37n	missense	73	23.96	23	SNP	1.000	G
SAE1	10055	genome.wustl.edu	37	19	47634224	47634224	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:47634224G>C	ENST00000270225.7	+	1	105	c.37G>C	c.(37-39)Gag>Cag	p.E13Q	SAE1_ENST00000598840.1_Missense_Mutation_p.E13Q|SAE1_ENST00000392776.3_Missense_Mutation_p.E13Q|SAE1_ENST00000540850.1_Intron|SAE1_ENST00000413379.3_Missense_Mutation_p.E13Q	NM_005500.2	NP_005491.1	Q9UBE0	SAE1_HUMAN	SUMO1 activating enzyme subunit 1	13					cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|regulation of mitotic cell cycle (GO:0007346)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP-dependent protein binding (GO:0043008)|enzyme activator activity (GO:0008047)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|ubiquitin activating enzyme activity (GO:0004839)			endometrium(3)|large_intestine(5)|lung(4)|ovary(1)	13		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)		CGGCATTAGCGAGGAGGAGGC	0.711																																						dbGAP											0													18.0	14.0	16.0					19																	47634224		1720	3157	4877	-	-	-	SO:0001583	missense	0			BC018271	CCDS12696.1, CCDS54284.1, CCDS54285.1	19q13.32	2013-09-26				ENSG00000142230		"""Ubiquitin-like modifier activating enzymes"""	30660	protein-coding gene	gene with protein product	"""activator Of sumo 1"""	613294				10187858, 9920803, 10217437	Standard	NM_005500		Approved	AOS1, FLJ3091, Sua1	uc002pgc.3	Q9UBE0		ENST00000270225.7:c.37G>C	19.37:g.47634224G>C	ENSP00000270225:p.Glu13Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDP5|B3KMQ2|F5GXX7|G3XAK6|O95717|Q9P020	Missense_Mutation	SNP	pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like	p.E13Q	ENST00000270225.7	37	c.37	CCDS12696.1	19	.	.	.	.	.	.	.	.	.	.	G	20.4	3.979877	0.74360	.	.	ENSG00000142230	ENST00000413379;ENST00000270225;ENST00000392776;ENST00000414294	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	5.38	4.35	0.52113	Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.66548	0.2800	M	0.84846	2.72	0.80722	D	1	D;P;P	0.55800	0.973;0.785;0.455	P;B;B	0.58210	0.835;0.435;0.251	T	0.72527	-0.4266	10	0.62326	D	0.03	.	13.1007	0.59218	0.079:0.0:0.921:0.0	.	13;13;13	G3XAK6;F5GXX7;Q9UBE0	.;.;SAE1_HUMAN	Q	13	ENSP00000416557:E13Q;ENSP00000270225:E13Q;ENSP00000440818:E13Q;ENSP00000398818:E13Q	ENSP00000270225:E13Q	E	+	1	0	SAE1	52326064	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.062000	0.71155	1.301000	0.44836	0.485000	0.47835	GAG	SAE1	-	superfamily_Molybdenum_cofac_synth_MoeB	ENSG00000142230		0.711	SAE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SAE1	HGNC	protein_coding	OTTHUMT00000466775.1	44	0.00	0	G	NM_005500		47634224	47634224	+1	no_errors	ENST00000270225	ensembl	human	known	69_37n	missense	7	50.00	7	SNP	1.000	C
SAMD9	54809	genome.wustl.edu	37	7	92735193	92735193	+	Missense_Mutation	SNP	T	T	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:92735193T>A	ENST00000379958.2	-	3	487	c.218A>T	c.(217-219)gAa>gTa	p.E73V		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	73	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.					cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TTTCCGCAATTCTTTGAATAG	0.393																																						dbGAP											0													147.0	146.0	146.0					7																	92735193		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.218A>T	7.37:g.92735193T>A	ENSP00000369292:p.Glu73Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.E73V	ENST00000379958.2	37	c.218	CCDS34680.1	7	.	.	.	.	.	.	.	.	.	.	T	18.29	3.591975	0.66219	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.41065	1.01;1.01	4.66	4.66	0.58398	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (2);	0.624103	0.13921	N	0.353575	T	0.45696	0.1355	L	0.34521	1.04	0.19300	N	0.999978	D	0.53462	0.96	P	0.54100	0.742	T	0.32587	-0.9901	10	0.66056	D	0.02	.	11.8401	0.52348	0.0:0.0:0.0:1.0	.	73	Q5K651	SAMD9_HUMAN	V	73	ENSP00000369292:E73V;ENSP00000414529:E73V	ENSP00000369292:E73V	E	-	2	0	SAMD9	92573129	0.018000	0.18449	0.338000	0.25549	0.301000	0.27625	1.160000	0.31761	2.094000	0.63399	0.413000	0.27773	GAA	SAMD9	-	superfamily_SAM/pointed,smart_SAM	ENSG00000205413		0.393	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD9	HGNC	protein_coding	OTTHUMT00000341761.1	190	0.00	0	T	NM_017654		92735193	92735193	-1	no_errors	ENST00000379958	ensembl	human	known	69_37n	missense	129	21.34	35	SNP	0.434	A
SAMD9L	219285	genome.wustl.edu	37	7	92762413	92762413	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:92762413C>G	ENST00000318238.4	-	5	4088	c.2872G>C	c.(2872-2874)Gaa>Caa	p.E958Q	SAMD9L_ENST00000437805.1_Missense_Mutation_p.E958Q|SAMD9L_ENST00000411955.1_Missense_Mutation_p.E958Q	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	958					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TCTAAGCTTTCAGGTTCCCAG	0.388																																						dbGAP											0													85.0	82.0	83.0					7																	92762413		2203	4298	6501	-	-	-	SO:0001583	missense	0			AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.2872G>C	7.37:g.92762413C>G	ENSP00000326247:p.Glu958Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	superfamily_SAM/pointed,pfscan_SAM	p.E958Q	ENST00000318238.4	37	c.2872	CCDS34681.1	7	.	.	.	.	.	.	.	.	.	.	C	14.11	2.438811	0.43326	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.24538	1.85;1.85;1.85	5.22	4.32	0.51571	.	0.297087	0.30969	N	0.008508	T	0.32704	0.0838	M	0.65498	2.005	0.23693	N	0.997096	P	0.46512	0.879	P	0.45639	0.488	T	0.19192	-1.0313	10	0.34782	T	0.22	-21.3878	14.0475	0.64714	0.0:0.9248:0.0:0.0752	.	958	Q8IVG5	SAM9L_HUMAN	Q	958	ENSP00000326247:E958Q;ENSP00000405760:E958Q;ENSP00000408796:E958Q	ENSP00000326247:E958Q	E	-	1	0	SAMD9L	92600349	0.612000	0.27000	0.560000	0.28344	0.654000	0.38779	1.206000	0.32321	2.716000	0.92895	0.467000	0.42956	GAA	SAMD9L	-	NULL	ENSG00000177409		0.388	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD9L	HGNC	protein_coding	OTTHUMT00000341730.1	68	0.00	0	C	NM_152703		92762413	92762413	-1	no_errors	ENST00000318238	ensembl	human	known	69_37n	missense	55	21.43	15	SNP	0.397	G
SAMD9L	219285	genome.wustl.edu	37	7	92763635	92763635	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:92763635G>C	ENST00000318238.4	-	5	2866	c.1650C>G	c.(1648-1650)ctC>ctG	p.L550L	SAMD9L_ENST00000437805.1_Silent_p.L550L|SAMD9L_ENST00000411955.1_Silent_p.L550L	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	550					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CCACTGAAGAGAGTAATAGAA	0.363																																						dbGAP											0													39.0	43.0	41.0					7																	92763635		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.1650C>G	7.37:g.92763635G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Silent	SNP	superfamily_SAM/pointed,pfscan_SAM	p.L550	ENST00000318238.4	37	c.1650	CCDS34681.1	7																																																																																			SAMD9L	-	NULL	ENSG00000177409		0.363	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD9L	HGNC	protein_coding	OTTHUMT00000341730.1	26	0.00	0	G	NM_152703		92763635	92763635	-1	no_errors	ENST00000318238	ensembl	human	known	69_37n	silent	18	45.45	15	SNP	0.055	C
SAP25	100316904	genome.wustl.edu	37	7	100170192	100170192	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:100170192C>T	ENST00000538735.1	-	6	495	c.318G>A	c.(316-318)atG>atA	p.M106I		NM_001168682.1	NP_001162153.1	Q8TEE9	SAP25_HUMAN	Sin3A-associated protein, 25kDa	106					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											GGGAGCCCATCATCTGAGGAG	0.657																																						dbGAP											0													23.0	27.0	26.0					7																	100170192		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS55137.1	7q22.1	2011-05-19			ENSG00000205307	ENSG00000205307			41908	protein-coding gene	gene with protein product						16449650	Standard	NM_001168682		Approved	FLJ00248	uc022aip.1	Q8TEE9		ENST00000538735.1:c.318G>A	7.37:g.100170192C>T	ENSP00000442339:p.Met106Ile	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.M106I	ENST00000538735.1	37	c.318	CCDS55137.1	7	.	.	.	.	.	.	.	.	.	.	C	12.98	2.101441	0.37048	.	.	ENSG00000205307	ENST00000342773;ENST00000538735	.	.	.	5.38	-1.37	0.09056	.	1.621330	0.04411	N	0.365962	T	0.24661	0.0598	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.25187	-1.0139	9	0.41790	T	0.15	-24.7218	9.4088	0.38477	0.0:0.2238:0.6048:0.1715	.	106	Q8TEE9	SAP25_HUMAN	I	106	.	ENSP00000340429:M106I	M	-	3	0	SAP25	100008128	0.000000	0.05858	0.325000	0.25375	0.909000	0.53808	-0.095000	0.11077	-0.490000	0.06707	0.555000	0.69702	ATG	SAP25	-	NULL	ENSG00000205307		0.657	SAP25-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SAP25	HGNC	protein_coding		15	0.00	0	C			100170192	100170192	-1	no_errors	ENST00000538735	ensembl	human	known	69_37n	missense	14	39.13	9	SNP	0.165	T
SARDH	1757	genome.wustl.edu	37	9	136555504	136555504	+	Silent	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:136555504G>T	ENST00000371872.4	-	16	2324	c.2067C>A	c.(2065-2067)gcC>gcA	p.A689A	SARDH_ENST00000371868.1_Silent_p.A117A|SARDH_ENST00000422262.2_Silent_p.A521A|SARDH_ENST00000439388.1_Silent_p.A689A	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	689					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		TCTCTCACCTGGCTGGGCCCT	0.637																																						dbGAP											0													49.0	49.0	49.0					9																	136555504		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.2067C>A	9.37:g.136555504G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Silent	SNP	pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C	p.A689	ENST00000371872.4	37	c.2067	CCDS6978.1	9																																																																																			SARDH	-	pfam_GCV_T_N	ENSG00000123453		0.637	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SARDH	HGNC	protein_coding	OTTHUMT00000054931.1	25	0.00	0	G			136555504	136555504	-1	no_errors	ENST00000371872	ensembl	human	known	69_37n	silent	39	25.00	13	SNP	0.868	T
SARM1	23098	genome.wustl.edu	37	17	26715448	26715448	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:26715448G>A	ENST00000457710.3	+	7	2182	c.1711G>A	c.(1711-1713)Gac>Aac	p.D571N	SARM1_ENST00000379061.4_3'UTR	NM_015077.2	NP_055892.2	Q6SZW1	SARM1_HUMAN	sterile alpha and TIR motif containing 1	605	TIR.				innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|regulation of apoptotic process (GO:0042981)|regulation of dendrite morphogenesis (GO:0048814)|regulation of neuron death (GO:1901214)|response to glucose (GO:0009749)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of mitochondrial outer membrane (GO:0031315)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|synapse (GO:0045202)				cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		CAAGTTCGAGGACAAACTCAT	0.517																																						dbGAP											0													159.0	135.0	143.0					17																	26715448		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011096		17q11	2013-01-10			ENSG00000004139	ENSG00000004139		"""Sterile alpha motif (SAM) domain containing"""	17074	protein-coding gene	gene with protein product		607732				9628581	Standard	NM_015077		Approved	SARM, SAMD2, KIAA0524	uc010crl.1	Q6SZW1	OTTHUMG00000132499	ENST00000457710.3:c.1711G>A	17.37:g.26715448G>A	ENSP00000406738:p.Asp571Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O60277|Q7LGG3|Q9NXY5	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,superfamily_ARM-type_fold,superfamily_TIR_dom,superfamily_SAM/pointed,smart_SAM,smart_TIR_dom,pfscan_SAM	p.D571N	ENST00000457710.3	37	c.1711		17	.	.	.	.	.	.	.	.	.	.	G	19.34	3.808628	0.70797	.	.	ENSG00000004139	ENST00000457710;ENST00000003834	T	0.25414	1.8	5.39	5.39	0.77823	Toll/interleukin-1 receptor homology (TIR) domain (2);	0.050743	0.85682	D	0.000000	T	0.35595	0.0937	.	.	.	0.58432	D	0.999997	D	0.76494	0.999	D	0.66847	0.947	T	0.02307	-1.1179	9	0.02654	T	1	-42.5238	17.5118	0.87762	0.0:0.0:1.0:0.0	.	605	Q6SZW1	SARM1_HUMAN	N	603;571	ENSP00000406738:D603N	ENSP00000003834:D571N	D	+	1	0	SARM1	23739575	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	9.657000	0.98554	2.795000	0.96236	0.655000	0.94253	GAC	SARM1	-	superfamily_TIR_dom,smart_TIR_dom	ENSG00000004139		0.517	SARM1-001	NOVEL	basic|appris_principal|exp_conf	protein_coding	SARM1	HGNC	protein_coding	OTTHUMT00000255679.3	58	0.00	0	G	NM_015077		26715448	26715448	+1	no_errors	ENST00000457710	ensembl	human	novel	69_37n	missense	55	24.32	18	SNP	1.000	A
SART1	9092	genome.wustl.edu	37	11	65745368	65745368	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:65745368G>T	ENST00000312397.5	+	17	2262	c.2170G>T	c.(2170-2172)Gag>Tag	p.E724*		NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells	724					cell cycle arrest (GO:0007050)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|spliceosomal snRNP assembly (GO:0000387)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CACACCCAAGGAGGTGAGCAG	0.617																																						dbGAP											0													51.0	43.0	45.0					11																	65745368		2201	4295	6496	-	-	-	SO:0001587	stop_gained	0			AB006198	CCDS31611.1	11q13.1	2009-01-06	2006-12-07		ENSG00000175467	ENSG00000175467			10538	protein-coding gene	gene with protein product	"""small nuclear ribonucleoprotein 110kDa (U4/U6.U5)"""	605941	"""squamous cell carcinoma antigen recognised by T cells"""			9449708	Standard	NM_005146		Approved	Ara1, Snu66, SNRNP110	uc001ogl.3	O43290	OTTHUMG00000166771	ENST00000312397.5:c.2170G>T	11.37:g.65745368G>T	ENSP00000310448:p.Glu724*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDN1|Q53GB5	Nonsense_Mutation	SNP	pfam_SART_1	p.E724*	ENST00000312397.5	37	c.2170	CCDS31611.1	11	.	.	.	.	.	.	.	.	.	.	G	39	7.644631	0.98409	.	.	ENSG00000175467	ENST00000312397;ENST00000542816	.	.	.	5.11	4.2	0.49525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-35.9005	11.3566	0.49620	0.0895:0.0:0.9105:0.0	.	.	.	.	X	724;566	.	ENSP00000310448:E724X	E	+	1	0	SART1	65501944	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	9.139000	0.94554	1.162000	0.42619	0.491000	0.48974	GAG	SART1	-	pfam_SART_1	ENSG00000175467		0.617	SART1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SART1	HGNC	protein_coding	OTTHUMT00000391409.1	20	0.00	0	G			65745368	65745368	+1	no_errors	ENST00000312397	ensembl	human	known	69_37n	nonsense	17	41.38	12	SNP	1.000	T
SATB2	23314	genome.wustl.edu	37	2	200173558	200173558	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:200173558G>C	ENST00000417098.1	-	10	2481	c.1665C>G	c.(1663-1665)atC>atG	p.I555M	SATB2_ENST00000260926.5_Missense_Mutation_p.I555M|SATB2_ENST00000457245.1_Missense_Mutation_p.I555M|SATB2_ENST00000443023.1_Missense_Mutation_p.I496M|SATB2_ENST00000428695.1_Missense_Mutation_p.I437M	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	555					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CCTCCTCATAGATGACATCCC	0.597																																					Colon(30;262 767 11040 24421 36230)	dbGAP											0													177.0	142.0	154.0					2																	200173558		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"""Homeoboxes / CUT class"""	21637	protein-coding gene	gene with protein product		608148	"""SATB family member 2"""				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.1665C>G	2.37:g.200173558G>C	ENSP00000401112:p.Ile555Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5Z8|Q3ZB87|Q4V763	Missense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT	p.I555M	ENST00000417098.1	37	c.1665	CCDS2327.1	2	.	.	.	.	.	.	.	.	.	.	G	17.15	3.316065	0.60524	.	.	ENSG00000119042	ENST00000417098;ENST00000443023;ENST00000260926;ENST00000428695;ENST00000457245	T;T;T;T;T	0.55588	0.57;0.59;0.57;0.51;0.57	5.35	2.53	0.30540	Homeodomain protein CUT (2);Lambda repressor-like, DNA-binding (1);	0.188967	0.48286	D	0.000195	T	0.62792	0.2457	M	0.65498	2.005	0.43073	D	0.994713	P;D	0.53885	0.918;0.963	P;D	0.63793	0.601;0.918	T	0.61695	-0.7010	10	0.72032	D	0.01	-17.5053	5.7921	0.18367	0.2307:0.139:0.6304:0.0	.	437;555	Q3ZB87;Q9UPW6	.;SATB2_HUMAN	M	555;496;555;437;555	ENSP00000401112:I555M;ENSP00000388764:I496M;ENSP00000260926:I555M;ENSP00000388581:I437M;ENSP00000405420:I555M	ENSP00000260926:I555M	I	-	3	3	SATB2	199881803	1.000000	0.71417	0.998000	0.56505	0.722000	0.41435	1.254000	0.32897	0.462000	0.27095	-0.140000	0.14226	ATC	SATB2	-	pfam_Hmoeo_CUT,superfamily_Lambda_DNA-bd_dom,pfscan_Hmoeo_CUT	ENSG00000119042		0.597	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SATB2	HGNC	protein_coding	OTTHUMT00000256140.1	73	0.00	0	G	NM_015265		200173558	200173558	-1	no_errors	ENST00000260926	ensembl	human	known	69_37n	missense	64	22.89	19	SNP	1.000	C
SATB2	23314	genome.wustl.edu	37	2	200188564	200188564	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:200188564G>C	ENST00000417098.1	-	9	2320	c.1504C>G	c.(1504-1506)Caa>Gaa	p.Q502E	SATB2_ENST00000260926.5_Missense_Mutation_p.Q502E|RP11-486F17.1_ENST00000489557.2_RNA|SATB2_ENST00000457245.1_Missense_Mutation_p.Q502E|SATB2_ENST00000443023.1_Missense_Mutation_p.Q443E|SATB2_ENST00000428695.1_Missense_Mutation_p.Q384E	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	502					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AACAGGGCTTGAGACACCTTG	0.473																																					Colon(30;262 767 11040 24421 36230)	dbGAP											0													120.0	116.0	117.0					2																	200188564		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"""Homeoboxes / CUT class"""	21637	protein-coding gene	gene with protein product		608148	"""SATB family member 2"""				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.1504C>G	2.37:g.200188564G>C	ENSP00000401112:p.Gln502Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5Z8|Q3ZB87|Q4V763	Missense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT	p.Q502E	ENST00000417098.1	37	c.1504	CCDS2327.1	2	.	.	.	.	.	.	.	.	.	.	G	22.2	4.258481	0.80246	.	.	ENSG00000119042	ENST00000417098;ENST00000443023;ENST00000260926;ENST00000428695;ENST00000457245	T;T;T;T;T	0.57752	0.38;0.39;0.38;0.48;0.38	5.86	5.86	0.93980	Homeodomain protein CUT (2);Lambda repressor-like, DNA-binding (2);	0.000000	0.85682	D	0.000000	T	0.74921	0.3780	M	0.74881	2.28	0.80722	D	1	D;D	0.65815	0.985;0.995	D;D	0.83275	0.981;0.996	T	0.75994	-0.3121	10	0.87932	D	0	-10.9662	20.2019	0.98263	0.0:0.0:1.0:0.0	.	384;502	Q3ZB87;Q9UPW6	.;SATB2_HUMAN	E	502;443;502;384;502	ENSP00000401112:Q502E;ENSP00000388764:Q443E;ENSP00000260926:Q502E;ENSP00000388581:Q384E;ENSP00000405420:Q502E	ENSP00000260926:Q502E	Q	-	1	0	SATB2	199896809	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.776000	0.95493	0.655000	0.94253	CAA	SATB2	-	pfam_Hmoeo_CUT,superfamily_Lambda_DNA-bd_dom,pfscan_Hmoeo_CUT	ENSG00000119042		0.473	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SATB2	HGNC	protein_coding	OTTHUMT00000256140.1	84	0.00	0	G	NM_015265		200188564	200188564	-1	no_errors	ENST00000260926	ensembl	human	known	69_37n	missense	88	20.00	22	SNP	1.000	C
SATB2	23314	genome.wustl.edu	37	2	200193423	200193423	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:200193423G>A	ENST00000417098.1	-	8	2200	c.1384C>T	c.(1384-1386)Cag>Tag	p.Q462*	SATB2_ENST00000260926.5_Nonsense_Mutation_p.Q462*|RP11-486F17.1_ENST00000489557.2_RNA|SATB2_ENST00000457245.1_Nonsense_Mutation_p.Q462*|SATB2_ENST00000443023.1_Nonsense_Mutation_p.Q403*|SATB2_ENST00000428695.1_Nonsense_Mutation_p.Q344*	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	462					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TTTCTCACCTGAGGGGTTCGG	0.493																																					Colon(30;262 767 11040 24421 36230)	dbGAP											0													91.0	85.0	87.0					2																	200193423		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"""Homeoboxes / CUT class"""	21637	protein-coding gene	gene with protein product		608148	"""SATB family member 2"""				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.1384C>T	2.37:g.200193423G>A	ENSP00000401112:p.Gln462*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5Z8|Q3ZB87|Q4V763	Nonsense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT	p.Q462*	ENST00000417098.1	37	c.1384	CCDS2327.1	2	.	.	.	.	.	.	.	.	.	.	G	41	8.648768	0.98899	.	.	ENSG00000119042	ENST00000417098;ENST00000443023;ENST00000260926;ENST00000428695;ENST00000457245	.	.	.	4.87	4.87	0.63330	.	0.068364	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-17.6749	18.575	0.91151	0.0:0.0:1.0:0.0	.	.	.	.	X	462;403;462;344;462	.	ENSP00000260926:Q462X	Q	-	1	0	SATB2	199901668	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.623000	0.90957	2.691000	0.91804	0.650000	0.86243	CAG	SATB2	-	NULL	ENSG00000119042		0.493	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SATB2	HGNC	protein_coding	OTTHUMT00000256140.1	66	0.00	0	G	NM_015265		200193423	200193423	-1	no_errors	ENST00000260926	ensembl	human	known	69_37n	nonsense	53	42.39	39	SNP	1.000	A
SBDS	51119	genome.wustl.edu	37	7	66460354	66460354	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:66460354C>G	ENST00000246868.2	-	1	234	c.51G>C	c.(49-51)gtG>gtC	p.V17V	TYW1_ENST00000491969.1_3'UTR|TYW1_ENST00000359626.5_5'Flank	NM_016038.2	NP_057122.2	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome	17					bone marrow development (GO:0048539)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|inner cell mass cell proliferation (GO:0001833)|leukocyte chemotaxis (GO:0030595)|mature ribosome assembly (GO:0042256)|mitotic spindle stabilization (GO:0043148)|ribosomal large subunit biogenesis (GO:0042273)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|rRNA binding (GO:0019843)			cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						TCATCCGTACCACGGCCACAT	0.637			Gene Conversion			"""AML, MDS"""			Shwachman-Diamond syndrome																													dbGAP	yes	Rec		Schwachman-Diamond syndrome	7	7q11	51119	Shwachman-Bodian-Diamond syndrome protein		L	0													59.0	55.0	56.0					7																	66460354		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	Shwachman syndrome, Shwachman-Bodian syndrome, Congenital Lipomatosis of the Pancreas	AF151855	CCDS5537.1	7q11.22	2014-09-17			ENSG00000126524	ENSG00000126524			19440	protein-coding gene	gene with protein product		607444				12496757	Standard	NM_016038		Approved	CGI-97, FLJ10917, SDS, SWDS	uc003tvm.1	Q9Y3A5	OTTHUMG00000023165	ENST00000246868.2:c.51G>C	7.37:g.66460354C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0P4|Q96FX0|Q9NV53	Silent	SNP	pfam_Ribosome_mat_SBDS_C,pfam_Ribosome_mat_SBDS_N,superfamily_Ribosome_mat_SBDS_N,tigrfam_Ribosome_maturation_pr_SBDS	p.V17	ENST00000246868.2	37	c.51	CCDS5537.1	7																																																																																			SBDS	-	pfam_Ribosome_mat_SBDS_N,superfamily_Ribosome_mat_SBDS_N,tigrfam_Ribosome_maturation_pr_SBDS	ENSG00000126524		0.637	SBDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SBDS	HGNC	protein_coding	OTTHUMT00000251746.2	49	0.00	0	C	NM_016038		66460354	66460354	-1	no_errors	ENST00000246868	ensembl	human	known	69_37n	silent	32	25.58	11	SNP	0.999	G
SBF1	6305	genome.wustl.edu	37	22	50885852	50885852	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:50885852C>A	ENST00000390679.3	-	39	5588	c.5404G>T	c.(5404-5406)Gag>Tag	p.E1802*	SBF1_ENST00000380817.3_Nonsense_Mutation_p.E1828*|SBF1_ENST00000348911.6_Nonsense_Mutation_p.E1803*			O95248	MTMR5_HUMAN	SET binding factor 1	1802	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CCCTTGCACTCTGTGTCCACA	0.632																																						dbGAP											0													70.0	77.0	75.0					22																	50885852		2184	4278	6462	-	-	-	SO:0001587	stop_gained	0			U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.5404G>T	22.37:g.50885852C>A	ENSP00000375097:p.Glu1802*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Nonsense_Mutation	SNP	pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotub-related,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology	p.E1828*	ENST00000390679.3	37	c.5482		22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.8|28.8	4.951449|4.951449	0.92660|0.92660	.|.	.|.	ENSG00000100241|ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000337034;ENST00000390679|ENST00000418590	.|.	.|.	.|.	3.22|3.22	3.22|3.22	0.36961|0.36961	.|.	0.126930|.	0.51477|.	D|.	0.000094|.	.|T	.|0.63224	.|0.2493	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.71441	.|-0.4592	.|3	0.07030|.	T|.	0.85|.	.|.	14.5477|14.5477	0.68044|0.68044	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	1828;1803;1838;1802|349	.|.	ENSP00000336522:E1838X|.	E|R	-|-	1|2	0|0	SBF1|SBF1	49232718|49232718	0.032000|0.032000	0.19561|0.19561	0.993000|0.993000	0.49108|0.49108	0.933000|0.933000	0.57130|0.57130	1.098000|1.098000	0.31000|0.31000	1.818000|1.818000	0.53035|0.53035	0.462000|0.462000	0.41574|0.41574	GAG|AGA	SBF1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000100241		0.632	SBF1-201	KNOWN	basic	protein_coding	SBF1	HGNC	protein_coding		32	0.00	0	C			50885852	50885852	-1	no_errors	ENST00000380817	ensembl	human	known	69_37n	nonsense	36	25.00	12	SNP	0.995	A
SBF1	6305	genome.wustl.edu	37	22	50904848	50904848	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:50904848G>T	ENST00000390679.3	-	7	903	c.719C>A	c.(718-720)tCc>tAc	p.S240Y	SBF1_ENST00000380817.3_Missense_Mutation_p.S240Y|SBF1_ENST00000348911.6_Missense_Mutation_p.S241Y			O95248	MTMR5_HUMAN	SET binding factor 1	240	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GTAGCTCCGGGACAGGAAGAG	0.617																																						dbGAP											0													13.0	19.0	17.0					22																	50904848		1944	4078	6022	-	-	-	SO:0001583	missense	0			U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.719C>A	22.37:g.50904848G>T	ENSP00000375097:p.Ser240Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotub-related,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology	p.S240Y	ENST00000390679.3	37	c.719		22	.	.	.	.	.	.	.	.	.	.	G	25.1	4.601278	0.87055	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000356279;ENST00000337034;ENST00000390679	T;T;T	0.30182	1.54;1.54;1.54	4.33	4.33	0.51752	.	0.000000	0.85682	D	0.000000	T	0.69324	0.3098	H	0.96777	3.88	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	T	0.82047	-0.0651	10	0.87932	D	0	.	16.6062	0.84830	0.0:0.0:1.0:0.0	.	241;240	G5E933;O95248-4	.;.	Y	240;241;251;250;240	ENSP00000370196:S240Y;ENSP00000252027:S241Y;ENSP00000375097:S240Y	ENSP00000336522:S250Y	S	-	2	0	SBF1	49251714	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	6.343000	0.72986	2.253000	0.74438	0.462000	0.41574	TCC	SBF1	-	pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom	ENSG00000100241		0.617	SBF1-201	KNOWN	basic	protein_coding	SBF1	HGNC	protein_coding		20	0.00	0	G			50904848	50904848	-1	no_errors	ENST00000380817	ensembl	human	known	69_37n	missense	23	20.69	6	SNP	1.000	T
SBF2	81846	genome.wustl.edu	37	11	10024132	10024132	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:10024132C>A	ENST00000256190.8	-	7	861	c.724G>T	c.(724-726)Gaa>Taa	p.E242*	SBF2_ENST00000527019.1_5'UTR	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	242	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		ATTAAAGATTCCAGGGCTCTA	0.343																																						dbGAP											0													70.0	72.0	71.0					11																	10024132		2201	4294	6495	-	-	-	SO:0001587	stop_gained	0			AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	2135	protein-coding gene	gene with protein product	"""myotubularin related 13"""	607697	"""Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)"", ""DENN/MADD domain containing 7B"""	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.724G>T	11.37:g.10024132C>A	ENSP00000256190:p.Glu242*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Nonsense_Mutation	SNP	pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotub-related,pfam_dDENN_dom,pfam_Pleckstrin_homology,pfam_GRAM,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology	p.E242*	ENST00000256190.8	37	c.724	CCDS31427.1	11	.	.	.	.	.	.	.	.	.	.	C	38	6.673366	0.97751	.	.	ENSG00000133812	ENST00000256190	.	.	.	5.41	5.41	0.78517	.	0.117488	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1739	0.93594	0.0:1.0:0.0:0.0	.	.	.	.	X	242	.	.	E	-	1	0	SBF2	9980708	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	7.818000	0.86416	2.525000	0.85131	0.591000	0.81541	GAA	SBF2	-	pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom	ENSG00000133812		0.343	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SBF2	HGNC	protein_coding	OTTHUMT00000386911.2	100	0.00	0	C	NM_030962		10024132	10024132	-1	no_errors	ENST00000256190	ensembl	human	known	69_37n	nonsense	84	25.00	28	SNP	1.000	A
SBNO1	55206	genome.wustl.edu	37	12	123805113	123805113	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:123805113G>C	ENST00000602398.1	-	19	2660	c.2533C>G	c.(2533-2535)Cag>Gag	p.Q845E	SBNO1_ENST00000420886.2_Missense_Mutation_p.Q845E|SBNO1_ENST00000267176.4_Missense_Mutation_p.Q844E|SBNO1_ENST00000602750.1_Missense_Mutation_p.Q844E			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	845					regulation of transcription, DNA-templated (GO:0006355)					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)		ACAGCATCCTGACTTGTTATA	0.363																																						dbGAP											0													143.0	141.0	142.0					12																	123805113		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.2533C>G	12.37:g.123805113G>C	ENSP00000473665:p.Gln845Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	pfam_Helicase/UvrB_dom,superfamily_Prismane-like	p.Q845E	ENST00000602398.1	37	c.2533	CCDS53844.1	12	.	.	.	.	.	.	.	.	.	.	G	14.98	2.696362	0.48202	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	T;T	0.29142	1.58;1.58	5.72	5.72	0.89469	.	0.063724	0.64402	D	0.000005	T	0.30355	0.0762	L	0.44542	1.39	0.58432	D	0.999999	B;B	0.28801	0.143;0.223	B;B	0.24701	0.025;0.055	T	0.02789	-1.1110	10	0.30854	T	0.27	-11.7753	19.8879	0.96917	0.0:0.0:1.0:0.0	.	845;844	A3KN83;A3KN83-2	SBNO1_HUMAN;.	E	845;844	ENSP00000387361:Q845E;ENSP00000267176:Q844E	ENSP00000267176:Q844E	Q	-	1	0	SBNO1	122371066	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.373000	0.97168	2.693000	0.91896	0.655000	0.94253	CAG	SBNO1	-	NULL	ENSG00000139697		0.363	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SBNO1	HGNC	protein_coding	OTTHUMT00000467684.1	154	0.65	1	G	NM_018183		123805113	123805113	-1	no_errors	ENST00000420886	ensembl	human	known	69_37n	missense	65	55.10	81	SNP	1.000	C
SBSPON	157869	genome.wustl.edu	37	8	73979689	73979689	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:73979689G>C	ENST00000297354.6	-	5	886	c.682C>G	c.(682-684)Cag>Gag	p.Q228E	SBSPON_ENST00000519697.1_5'UTR	NM_153225.3	NP_694957.3	Q8IVN8	SBSPO_HUMAN	somatomedin B and thrombospondin, type 1 domain containing	228					immune response (GO:0006955)	proteinaceous extracellular matrix (GO:0005578)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)										TGGAGAGTCTGATTTCTGAAA	0.383																																						dbGAP											0													102.0	95.0	97.0					8																	73979689		1844	4093	5937	-	-	-	SO:0001583	missense	0				CCDS43747.2	8q21.11	2013-08-07	2012-05-15	2012-05-15	ENSG00000164764	ENSG00000164764			30362	protein-coding gene	gene with protein product	"""RPE spondin"", ""rpe-spondin"""		"""chromosome 8 open reading frame 84"""	C8orf84		12107410	Standard	NM_153225		Approved	RPESP	uc003xzf.3	Q8IVN8	OTTHUMG00000157144	ENST00000297354.6:c.682C>G	8.37:g.73979689G>C	ENSP00000297354:p.Gln228Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAA5|Q96J64	Missense_Mutation	SNP	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Somatomedin_B_dom,pfscan_Thrombospondin_1_rpt	p.Q228E	ENST00000297354.6	37	c.682	CCDS43747.2	8	.	.	.	.	.	.	.	.	.	.	G	14.51	2.558325	0.45590	.	.	ENSG00000164764	ENST00000297354	T	0.22945	1.93	5.79	5.79	0.91817	.	0.273133	0.37715	N	0.001966	T	0.19485	0.0468	L	0.35414	1.06	0.32566	N	0.530418	B	0.22003	0.063	B	0.15870	0.014	T	0.13255	-1.0516	10	0.14252	T	0.57	-17.0545	14.5104	0.67784	0.0:0.0:0.8169:0.1831	.	228	Q8IVN8	RPESP_HUMAN	E	228	ENSP00000297354:Q228E	ENSP00000297354:Q228E	Q	-	1	0	C8orf84	74142243	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.227000	0.42972	2.740000	0.93945	0.644000	0.83932	CAG	SBSPON	-	NULL	ENSG00000164764		0.383	SBSPON-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SBSPON	HGNC	protein_coding	OTTHUMT00000347584.2	66	0.00	0	G	NM_153225		73979689	73979689	-1	no_errors	ENST00000297354	ensembl	human	known	69_37n	missense	57	22.97	17	SNP	1.000	C
SCAF1	58506	genome.wustl.edu	37	19	50156060	50156060	+	Nonsense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:50156060C>G	ENST00000360565.3	+	7	2538	c.2414C>G	c.(2413-2415)tCa>tGa	p.S805*		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	805	Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)	p.S805*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		GCGCCTTCCTCAGGGCCCCCG	0.662																																						dbGAP											1	Substitution - Nonsense(1)	upper_aerodigestive_tract(1)											43.0	55.0	51.0					19																	50156060		2200	4300	6500	-	-	-	SO:0001587	stop_gained	0			AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.2414C>G	19.37:g.50156060C>G	ENSP00000353769:p.Ser805*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z5V7|Q8WVA1|Q9NR59	Nonsense_Mutation	SNP	NULL	p.S805*	ENST00000360565.3	37	c.2414	CCDS33074.1	19	.	.	.	.	.	.	.	.	.	.	C	38	6.670280	0.97751	.	.	ENSG00000126461	ENST00000360565	.	.	.	3.82	1.4	0.22301	.	0.000000	0.30809	N	0.008822	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.9261	7.5946	0.28041	0.2814:0.5679:0.1507:0.0	.	.	.	.	X	805	.	.	S	+	2	0	SCAF1	54847872	0.392000	0.25229	0.006000	0.13384	0.992000	0.81027	1.028000	0.30128	0.917000	0.36895	0.561000	0.74099	TCA	SCAF1	-	NULL	ENSG00000126461		0.662	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAF1	HGNC	protein_coding	OTTHUMT00000465764.1	60	0.00	0	C	NM_021228		50156060	50156060	+1	no_errors	ENST00000360565	ensembl	human	known	69_37n	nonsense	31	32.61	15	SNP	0.001	G
SCAF8	22828	genome.wustl.edu	37	6	155131280	155131280	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:155131280G>A	ENST00000367178.3	+	12	1934	c.1358G>A	c.(1357-1359)aGa>aAa	p.R453K	SCAF8_ENST00000367186.4_Missense_Mutation_p.R519K|SCAF8_ENST00000417268.1_Missense_Mutation_p.R453K	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	453	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						AGGAGAGCCAGAGAAAGGGAG	0.413																																						dbGAP											0													114.0	114.0	114.0					6																	155131280		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"""RNA binding motif (RRM) containing"""	20959	protein-coding gene	gene with protein product			"""RNA binding motif protein 16"""	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.1358G>A	6.37:g.155131280G>A	ENSP00000356146:p.Arg453Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Missense_Mutation	SNP	pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD,smart_RRM_dom,pfscan_RRM_dom	p.R519K	ENST00000367178.3	37	c.1556	CCDS5247.1	6	.	.	.	.	.	.	.	.	.	.	G	24.2	4.507103	0.85282	.	.	ENSG00000213079	ENST00000367178;ENST00000417268;ENST00000367186	T;T;T	0.38401	1.14;1.14;1.14	5.88	5.88	0.94601	.	0.000000	0.85682	U	0.000000	T	0.48466	0.1501	M	0.69185	2.1	0.80722	D	1	D;D;D;D	0.62365	0.991;0.991;0.983;0.991	P;P;P;P	0.57425	0.82;0.82;0.708;0.82	T	0.37641	-0.9697	10	0.48119	T	0.1	.	20.2381	0.98363	0.0:0.0:1.0:0.0	.	498;519;531;453	B7Z876;B7Z888;B7Z3A4;Q9UPN6	.;.;.;SCAF8_HUMAN	K	453;453;519	ENSP00000356146:R453K;ENSP00000413098:R453K;ENSP00000356154:R519K	ENSP00000356146:R453K	R	+	2	0	SCAF8	155172972	1.000000	0.71417	0.987000	0.45799	0.823000	0.46562	9.869000	0.99810	2.779000	0.95612	0.650000	0.86243	AGA	SCAF8	-	NULL	ENSG00000213079		0.413	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAF8	HGNC	protein_coding	OTTHUMT00000042798.1	85	0.00	0	G	NM_014892		155131280	155131280	+1	no_errors	ENST00000367186	ensembl	human	known	69_37n	missense	57	22.97	17	SNP	1.000	A
SCAF8	22828	genome.wustl.edu	37	6	155154383	155154383	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:155154383C>T	ENST00000367178.3	+	20	4246	c.3670C>T	c.(3670-3672)Cag>Tag	p.Q1224*	TIAM2_ENST00000461783.3_5'UTR|SCAF8_ENST00000367186.4_Nonsense_Mutation_p.Q1290*|SCAF8_ENST00000417268.1_Nonsense_Mutation_p.Q1224*	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	1224					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						GAGACATGCTCAGCCACCACC	0.398																																						dbGAP											0													81.0	78.0	79.0					6																	155154383		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"""RNA binding motif (RRM) containing"""	20959	protein-coding gene	gene with protein product			"""RNA binding motif protein 16"""	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.3670C>T	6.37:g.155154383C>T	ENSP00000356146:p.Gln1224*	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Nonsense_Mutation	SNP	pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD,smart_RRM_dom,pfscan_RRM_dom	p.Q1290*	ENST00000367178.3	37	c.3868	CCDS5247.1	6	.	.	.	.	.	.	.	.	.	.	C	40	8.423511	0.98806	.	.	ENSG00000213079;ENSG00000213079;ENSG00000213079;ENSG00000146426	ENST00000367178;ENST00000417268;ENST00000367186;ENST00000528928	.	.	.	5.62	4.73	0.59995	.	0.556241	0.16846	U	0.197132	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	16.2988	0.82793	0.0:0.8674:0.1326:0.0	.	.	.	.	X	1224;1224;1290;185	.	ENSP00000356146:Q1224X	Q	+	1	0	TIAM2;SCAF8	155196075	1.000000	0.71417	0.944000	0.38274	0.998000	0.95712	4.124000	0.57924	1.313000	0.45069	0.655000	0.94253	CAG	SCAF8	-	NULL	ENSG00000213079		0.398	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAF8	HGNC	protein_coding	OTTHUMT00000042798.1	83	0.00	0	C	NM_014892		155154383	155154383	+1	no_errors	ENST00000367186	ensembl	human	known	69_37n	nonsense	74	14.94	13	SNP	1.000	T
SCAI	286205	genome.wustl.edu	37	9	127781102	127781102	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:127781102G>C	ENST00000336505.6	-	9	895	c.837C>G	c.(835-837)ctC>ctG	p.L279L	SCAI_ENST00000373549.4_Silent_p.L302L	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion	279					negative regulation of cell migration (GO:0030336)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						TACCAATAATGAGTGCGTCAG	0.378																																						dbGAP											0													103.0	96.0	99.0					9																	127781102		1917	4131	6048	-	-	-	SO:0001819	synonymous_variant	0			AK093983	CCDS43877.1, CCDS48017.1	9q34.11	2009-11-06	2009-07-09	2009-07-09	ENSG00000173611	ENSG00000173611			26709	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 126"""	C9orf126			Standard	NM_173690		Approved	FLJ36664, NET40	uc004bpd.3	Q8N9R8	OTTHUMG00000020667	ENST00000336505.6:c.837C>G	9.37:g.127781102G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3SXZ1|Q3SXZ2|Q5T163|Q8N1I4	Silent	SNP	pfam_DUF3550,pirsf_UCP013022	p.L302	ENST00000336505.6	37	c.906	CCDS48017.1	9																																																																																			SCAI	-	pfam_DUF3550,pirsf_UCP013022	ENSG00000173611		0.378	SCAI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAI	HGNC	protein_coding	OTTHUMT00000054055.3	58	0.00	0	G	NM_173690		127781102	127781102	-1	no_errors	ENST00000373549	ensembl	human	known	69_37n	silent	64	18.99	15	SNP	1.000	C
SCAP	22937	genome.wustl.edu	37	3	47462167	47462167	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:47462167C>G	ENST00000265565.5	-	12	1852	c.1440G>C	c.(1438-1440)gtG>gtC	p.V480V	SCAP_ENST00000545718.1_Silent_p.V88V|SCAP_ENST00000465628.1_5'UTR|SCAP_ENST00000441517.2_Silent_p.V225V	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	480					aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		TGGACGGCCTCACAGCCAGCT	0.647											OREG0015548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(149;978 1908 29304 37806 46700)	dbGAP											0													56.0	56.0	56.0					3																	47462167		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"""WD repeat domain containing"""	30634	protein-coding gene	gene with protein product	"""SREBP cleavage activating protein"""	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.1440G>C	3.37:g.47462167C>G		Somatic	947	WXS	Illumina GAIIx	Phase_IV	Q8N2E0|Q8WUA1	Silent	SNP	pfam_Patched,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_SSD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V480	ENST00000265565.5	37	c.1440	CCDS2755.2	3																																																																																			SCAP	-	NULL	ENSG00000114650		0.647	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAP	HGNC	protein_coding	OTTHUMT00000246872.2	33	0.00	0	C	NM_012235		47462167	47462167	-1	no_errors	ENST00000265565	ensembl	human	known	69_37n	silent	28	22.22	8	SNP	0.571	G
SCARA3	51435	genome.wustl.edu	37	8	27514305	27514305	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:27514305G>A	ENST00000301904.3	+	4	253	c.233G>A	c.(232-234)aGa>aAa	p.R78K	SCARA3_ENST00000337221.4_Missense_Mutation_p.R78K	NM_016240.2	NP_057324.2	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3	78					receptor-mediated endocytosis (GO:0006898)|response to oxidative stress (GO:0006979)|UV protection (GO:0009650)	collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)			breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		ACAGTTTTCAGAAAAGTGGAC	0.458																																						dbGAP											0													104.0	98.0	100.0					8																	27514305		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007829	CCDS34870.1, CCDS34871.1	8p21	2010-03-24			ENSG00000168077	ENSG00000168077			19000	protein-coding gene	gene with protein product	"""macrophage scavenger receptor-like 1"""	602728				9747040, 9580669	Standard	NM_182826		Approved	CSR1, CSR, MSLR1, APC7, MSRL1	uc003xga.1	Q6AZY7	OTTHUMG00000163898	ENST00000301904.3:c.233G>A	8.37:g.27514305G>A	ENSP00000301904:p.Arg78Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UM15|Q9UM16	Missense_Mutation	SNP	pfam_Collagen	p.R78K	ENST00000301904.3	37	c.233	CCDS34871.1	8	.	.	.	.	.	.	.	.	.	.	G	10.19	1.282099	0.23392	.	.	ENSG00000168077	ENST00000337221;ENST00000301904	T;D	0.90955	2.51;-2.76	5.81	3.79	0.43588	.	0.087857	0.85682	D	0.000000	T	0.78904	0.4357	N	0.12746	0.255	0.34145	D	0.666882	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.75465	-0.3308	10	0.22706	T	0.39	-24.0498	8.1427	0.31093	0.2289:0.0:0.7711:0.0	.	78;78	Q6AZY7-2;Q6AZY7	.;SCAR3_HUMAN	K	78	ENSP00000337985:R78K;ENSP00000301904:R78K	ENSP00000301904:R78K	R	+	2	0	SCARA3	27570224	1.000000	0.71417	1.000000	0.80357	0.347000	0.29111	1.940000	0.40223	1.465000	0.48006	0.655000	0.94253	AGA	SCARA3	-	NULL	ENSG00000168077		0.458	SCARA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCARA3	HGNC	protein_coding	OTTHUMT00000376258.2	118	0.00	0	G	NM_016240		27514305	27514305	+1	no_errors	ENST00000301904	ensembl	human	known	69_37n	missense	97	16.38	19	SNP	1.000	A
SCFD2	152579	genome.wustl.edu	37	4	54231338	54231338	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:54231338C>G	ENST00000401642.3	-	1	904	c.771G>C	c.(769-771)aaG>aaC	p.K257N	SCFD2_ENST00000388940.4_Missense_Mutation_p.K257N	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	257					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TCTTCCTGTTCTTTGCAGGGG	0.493																																						dbGAP											0													132.0	126.0	128.0					4																	54231338		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY299407	CCDS33984.1	4q12	2004-01-15			ENSG00000184178	ENSG00000184178			30676	protein-coding gene	gene with protein product						12477932	Standard	NM_152540		Approved	STXBP1L1, FLJ39514	uc003gzu.3	Q8WU76	OTTHUMG00000160588	ENST00000401642.3:c.771G>C	4.37:g.54231338C>G	ENSP00000384182:p.Lys257Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N5F3|Q8N8H0|Q96ED3	Missense_Mutation	SNP	pfam_Sec1-like,superfamily_Sec1-like	p.K257N	ENST00000401642.3	37	c.771	CCDS33984.1	4	.	.	.	.	.	.	.	.	.	.	C	11.82	1.752649	0.31046	.	.	ENSG00000184178	ENST00000401642;ENST00000388940	T;T	0.78924	-1.22;-1.22	5.03	3.28	0.37604	.	0.000000	0.85682	D	0.000000	D	0.83700	0.5311	M	0.68952	2.095	0.43750	D	0.996254	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.963	T	0.81797	-0.0768	10	0.34782	T	0.22	.	9.7255	0.40328	0.0:0.8266:0.0:0.1734	.	257;257	Q8WU76-2;Q8WU76	.;SCFD2_HUMAN	N	257	ENSP00000384182:K257N;ENSP00000373592:K257N	ENSP00000373592:K257N	K	-	3	2	SCFD2	53926095	0.999000	0.42202	1.000000	0.80357	0.060000	0.15804	0.573000	0.23699	1.370000	0.46153	0.462000	0.41574	AAG	SCFD2	-	NULL	ENSG00000184178		0.493	SCFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCFD2	HGNC	protein_coding	OTTHUMT00000361311.3	64	0.00	0	C	NM_152540		54231338	54231338	-1	no_errors	ENST00000401642	ensembl	human	known	69_37n	missense	72	21.74	20	SNP	1.000	G
SCLT1	132320	genome.wustl.edu	37	4	129891610	129891610	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:129891610C>G	ENST00000281142.5	-	10	1203	c.700G>C	c.(700-702)Gag>Cag	p.E234Q	SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000502495.1_5'UTR	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	234					cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)	sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						ACTCTCAGCTCTAATTTGGCT	0.303																																						dbGAP											0													78.0	77.0	77.0					4																	129891610		2203	4299	6502	-	-	-	SO:0001583	missense	0			AK055217	CCDS3740.1	4q28.2	2008-05-02			ENSG00000151466	ENSG00000151466			26406	protein-coding gene	gene with protein product		611399				15797711	Standard	XM_005262732		Approved	hCAP-1A, FLJ30655	uc003igp.2	Q96NL6	OTTHUMG00000133346	ENST00000281142.5:c.700G>C	4.37:g.129891610C>G	ENSP00000281142:p.Glu234Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A4QN04|Q0VAH2|Q6P2M4	Missense_Mutation	SNP	NULL	p.E234Q	ENST00000281142.5	37	c.700	CCDS3740.1	4	.	.	.	.	.	.	.	.	.	.	C	6.100	0.386772	0.11524	.	.	ENSG00000151466	ENST00000281142	T	0.10099	2.91	4.58	2.85	0.33270	.	0.157306	0.56097	D	0.000033	T	0.06280	0.0162	N	0.19112	0.55	0.80722	D	1	B	0.30361	0.277	B	0.31547	0.132	T	0.42632	-0.9440	9	.	.	.	-5.2178	7.043	0.25031	0.0:0.7932:0.0:0.2068	.	234	Q96NL6	SCLT1_HUMAN	Q	234	ENSP00000281142:E234Q	.	E	-	1	0	SCLT1	130111060	1.000000	0.71417	0.999000	0.59377	0.113000	0.19764	4.108000	0.57817	0.667000	0.31107	-0.384000	0.06662	GAG	SCLT1	-	NULL	ENSG00000151466		0.303	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCLT1	HGNC	protein_coding	OTTHUMT00000257176.2	118	0.00	0	C	NM_144643		129891610	129891610	-1	no_errors	ENST00000281142	ensembl	human	known	69_37n	missense	109	16.15	21	SNP	0.999	G
SCML4	256380	genome.wustl.edu	37	6	108093437	108093437	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:108093437G>A	ENST00000369020.3	-	2	340	c.95C>T	c.(94-96)tCa>tTa	p.S32L	SCML4_ENST00000369022.2_Intron	NM_198081.3	NP_932347.2	Q8N228	SCML4_HUMAN	sex comb on midleg-like 4 (Drosophila)	32					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		AGAGCCAGCTGAAGCAGAATA	0.517																																						dbGAP											0													120.0	121.0	121.0					6																	108093437		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS5060.2, CCDS69163.1, CCDS75500.1	6q21	2013-01-10			ENSG00000146285	ENSG00000146285		"""Sterile alpha motif (SAM) domain containing"""	21397	protein-coding gene	gene with protein product							Standard	NM_001286409		Approved	dJ47M23.1	uc010kdf.3	Q8N228	OTTHUMG00000015313	ENST00000369020.3:c.95C>T	6.37:g.108093437G>A	ENSP00000358016:p.Ser32Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B0QZ10|B0QZ11|B7ZBX3|Q5JXD0|Q5T0T6|Q8IYY6	Missense_Mutation	SNP	pfam_DUF3588,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM	p.S32L	ENST00000369020.3	37	c.95	CCDS5060.2	6	.	.	.	.	.	.	.	.	.	.	G	19.58	3.853861	0.71719	.	.	ENSG00000146285	ENST00000369020	T	0.46819	0.86	5.88	5.88	0.94601	.	.	.	.	.	T	0.27594	0.0678	L	0.44542	1.39	0.80722	D	1	P;P	0.39282	0.666;0.57	B;B	0.35859	0.212;0.206	T	0.08638	-1.0712	9	0.14252	T	0.57	.	19.8332	0.96644	0.0:0.0:1.0:0.0	.	32;32	B4E0X3;Q8N228	.;SCML4_HUMAN	L	32	ENSP00000358016:S32L	ENSP00000358016:S32L	S	-	2	0	SCML4	108200130	0.980000	0.34600	0.847000	0.33407	0.971000	0.66376	6.376000	0.73141	2.789000	0.95967	0.655000	0.94253	TCA	SCML4	-	NULL	ENSG00000146285		0.517	SCML4-005	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	SCML4	HGNC	protein_coding	OTTHUMT00000041700.3	117	0.00	0	G	XM_171128		108093437	108093437	-1	no_errors	ENST00000369020	ensembl	human	novel	69_37n	missense	108	27.03	40	SNP	0.939	A
SCN10A	6336	genome.wustl.edu	37	3	38805036	38805036	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:38805036G>C	ENST00000449082.2	-	5	650	c.651C>G	c.(649-651)ttC>ttG	p.F217L		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	217					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	TAAGAACTCTGAATGTCCGCA	0.458																																						dbGAP											0													159.0	154.0	155.0					3																	38805036		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.651C>G	3.37:g.38805036G>C	ENSP00000390600:p.Phe217Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDQ1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2	p.F217L	ENST00000449082.2	37	c.651	CCDS33736.1	3	.	.	.	.	.	.	.	.	.	.	G	19.18	3.777888	0.70107	.	.	ENSG00000185313	ENST00000449082	D	0.98105	-4.72	4.53	4.53	0.55603	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97729	0.9255	L	0.46947	1.48	0.38553	D	0.949502	D	0.76494	0.999	D	0.81914	0.995	D	0.98537	1.0630	10	0.87932	D	0	.	12.3045	0.54893	0.0822:0.0:0.9178:0.0	.	217	Q9Y5Y9	SCNAA_HUMAN	L	217	ENSP00000390600:F217L	ENSP00000390600:F217L	F	-	3	2	SCN10A	38780040	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.861000	0.56002	2.489000	0.83994	0.557000	0.71058	TTC	SCN10A	-	pfam_Ion_trans_dom	ENSG00000185313		0.458	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN10A	HGNC	protein_coding	OTTHUMT00000109745.3	128	0.00	0	G	NM_006514		38805036	38805036	-1	no_errors	ENST00000449082	ensembl	human	known	69_37n	missense	86	47.56	78	SNP	1.000	C
SCN2A	6326	genome.wustl.edu	37	2	166170140	166170140	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:166170140G>C	ENST00000375437.2	+	9	1335	c.1045G>C	c.(1045-1047)Gaa>Caa	p.E349Q	SCN2A_ENST00000283256.6_Missense_Mutation_p.E349Q|SCN2A_ENST00000375427.2_Missense_Mutation_p.E349Q|SCN2A_ENST00000357398.3_Missense_Mutation_p.E349Q	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	349					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCAGTGTCCTGAAGGATACAT	0.408																																						dbGAP											0													137.0	131.0	133.0					2																	166170140		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.1045G>C	2.37:g.166170140G>C	ENSP00000364586:p.Glu349Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.E349Q	ENST00000375437.2	37	c.1045	CCDS33314.1	2	.	.	.	.	.	.	.	.	.	.	G	29.2	4.985466	0.93044	.	.	ENSG00000136531	ENST00000424833;ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D;D	0.96716	-4.1;-4.06;-4.06;-4.06;-4.06	5.77	5.77	0.91146	Ion transport (1);	0.000000	0.64402	D	0.000002	D	0.98021	0.9348	M	0.87381	2.88	0.80722	D	1	P;P	0.52170	0.951;0.929	P;P	0.56216	0.69;0.794	D	0.98350	1.0543	10	0.87932	D	0	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	349;349	Q99250-2;Q99250	.;SCN2A_HUMAN	Q	349	ENSP00000406454:E349Q;ENSP00000364586:E349Q;ENSP00000349973:E349Q;ENSP00000283256:E349Q;ENSP00000364576:E349Q	ENSP00000283256:E349Q	E	+	1	0	SCN2A	165878386	1.000000	0.71417	0.998000	0.56505	0.941000	0.58515	9.869000	0.99810	2.885000	0.99019	0.655000	0.94253	GAA	SCN2A	-	pfam_Ion_trans_dom	ENSG00000136531		0.408	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	HGNC	protein_coding	OTTHUMT00000102659.2	103	0.00	0	G	NM_021007		166170140	166170140	+1	no_errors	ENST00000283256	ensembl	human	known	69_37n	missense	76	33.62	39	SNP	1.000	C
SCN1A	6323	genome.wustl.edu	37	2	166847916	166847916	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:166847916C>G	ENST00000303395.4	-	26	5868	c.5869G>C	c.(5869-5871)Gaa>Caa	p.E1957Q	AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.E1946Q|SCN1A_ENST00000409050.1_Missense_Mutation_p.E1929Q|SCN1A_ENST00000423058.2_Missense_Mutation_p.E1957Q			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1957			E -> G (in infantile spasms; dbSNP:rs121918802). {ECO:0000269|PubMed:14504318}.		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)	ATCATGTCTTCTTTTATAAGA	0.388																																						dbGAP											0													75.0	73.0	74.0					2																	166847916		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.5869G>C	2.37:g.166847916C>G	ENSP00000303540:p.Glu1957Gln	Somatic		WXS	Illumina GAIIx	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.E1957Q	ENST00000303395.4	37	c.5869	CCDS54413.1	2	.	.	.	.	.	.	.	.	.	.	C	10.68	1.419450	0.25552	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.96745	-4.11;-4.11;-4.06;-4.05	5.67	5.67	0.87782	.	0.083331	0.51477	D	0.000086	D	0.93739	0.7999	L	0.31371	0.925	0.40631	D	0.98185	B	0.14805	0.011	B	0.19666	0.026	D	0.89645	0.3865	10	0.45353	T	0.12	.	19.7714	0.96367	0.0:1.0:0.0:0.0	.	1946	P35498-2	.	Q	1957;1957;1946;1929	ENSP00000407030:E1957Q;ENSP00000303540:E1957Q;ENSP00000364554:E1946Q;ENSP00000386312:E1929Q	ENSP00000303540:E1957Q	E	-	1	0	SCN1A	166556162	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.817000	0.55668	2.672000	0.90937	0.484000	0.47621	GAA	SCN1A	-	NULL	ENSG00000144285		0.388	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN1A	HGNC	protein_coding	OTTHUMT00000102661.1	163	0.00	0	C	NM_006920		166847916	166847916	-1	no_errors	ENST00000303395	ensembl	human	known	69_37n	missense	162	15.62	30	SNP	1.000	G
SCN3B	55800	genome.wustl.edu	37	11	123516351	123516351	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:123516351C>T	ENST00000392770.2	-	2	965	c.163G>A	c.(163-165)Gag>Aag	p.E55K	SCN3B_ENST00000530277.1_Missense_Mutation_p.E55K|SCN3B_ENST00000299333.3_Missense_Mutation_p.E55K	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	55	Ig-like C2-type.				atrial cardiac muscle cell action potential (GO:0086014)|axon guidance (GO:0007411)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|positive regulation of heart rate (GO:0010460)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|ventricular cardiac muscle cell action potential (GO:0086005)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)	Valproic Acid(DB00313)|Zonisamide(DB00909)	GTGGTGGCCTCCACCTCCTCT	0.587																																						dbGAP											0													128.0	126.0	127.0					11																	123516351		2202	4299	6501	-	-	-	SO:0001583	missense	0			AJ243396	CCDS8442.1	11q24.1	2014-09-17	2012-02-28		ENSG00000166257	ENSG00000166257		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"""	20665	protein-coding gene	gene with protein product		608214	"""sodium channel, voltage-gated, type III, beta"""			10688874	Standard	XR_428980		Approved	HSA243396	uc001pzb.1	Q9NY72	OTTHUMG00000166006	ENST00000392770.2:c.163G>A	11.37:g.123516351C>T	ENSP00000376523:p.Glu55Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A5H1I5|Q17RL3|Q9ULR2	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like	p.E55K	ENST00000392770.2	37	c.163	CCDS8442.1	11	.	.	.	.	.	.	.	.	.	.	C	8.945	0.966717	0.18659	.	.	ENSG00000166257	ENST00000392770;ENST00000299333;ENST00000530277;ENST00000527836;ENST00000528267	T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23	5.87	4.86	0.63082	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.358348	0.35040	N	0.003496	T	0.35537	0.0935	N	0.05230	-0.09	0.26278	N	0.978326	B	0.02656	0.0	B	0.04013	0.001	T	0.33675	-0.9859	10	0.06236	T	0.91	-8.6797	5.3927	0.16253	0.2095:0.6561:0.0:0.1344	.	55	Q9NY72	SCN3B_HUMAN	K	55	ENSP00000376523:E55K;ENSP00000299333:E55K;ENSP00000432785:E55K;ENSP00000435554:E55K;ENSP00000434363:E55K	ENSP00000299333:E55K	E	-	1	0	SCN3B	123021561	0.004000	0.15560	1.000000	0.80357	0.997000	0.91878	0.340000	0.19892	2.764000	0.94973	0.609000	0.83330	GAG	SCN3B	-	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like	ENSG00000166257		0.587	SCN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN3B	HGNC	protein_coding	OTTHUMT00000387412.1	56	0.00	0	C	NM_018400		123516351	123516351	-1	no_errors	ENST00000299333	ensembl	human	known	69_37n	missense	56	15.15	10	SNP	0.983	T
SCN5A	6331	genome.wustl.edu	37	3	38651376	38651376	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:38651376G>A	ENST00000333535.4	-	7	932	c.783C>T	c.(781-783)ctC>ctT	p.L261L	SCN5A_ENST00000443581.1_Silent_p.L261L|SCN5A_ENST00000451551.2_Silent_p.L261L|SCN5A_ENST00000414099.2_Silent_p.L261L|SCN5A_ENST00000450102.2_Silent_p.L261L|SCN5A_ENST00000449557.2_Silent_p.L261L|SCN5A_ENST00000423572.2_Silent_p.L261L|SCN5A_ENST00000413689.1_Silent_p.L261L|SCN5A_ENST00000455624.2_Silent_p.L261L|SCN5A_ENST00000425664.1_Silent_p.L261L			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	261					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)	CAAAGACGCTGAGGCAGAAGA	0.592																																						dbGAP											0													84.0	92.0	89.0					3																	38651376		2189	4291	6480	-	-	-	SO:0001819	synonymous_variant	0			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.783C>T	3.37:g.38651376G>A		Somatic		WXS	Illumina GAIIx	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.L261	ENST00000333535.4	37	c.783	CCDS46796.1	3																																																																																			SCN5A	-	pfam_Ion_trans_dom	ENSG00000183873		0.592	SCN5A-014	KNOWN	basic|CCDS	protein_coding	SCN5A	HGNC	protein_coding	OTTHUMT00000377958.1	57	0.00	0	G	NM_198056		38651376	38651376	-1	no_errors	ENST00000333535	ensembl	human	known	69_37n	silent	68	20.00	17	SNP	0.997	A
SCN7A	6332	genome.wustl.edu	37	2	167273228	167273228	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:167273228G>C	ENST00000409855.1	-	20	3529	c.3403C>G	c.(3403-3405)Ctg>Gtg	p.L1135V		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1135					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	ACTTGAAGCAGAGAAAGGAAA	0.338																																						dbGAP											0													74.0	64.0	67.0					2																	167273228		1833	4086	5919	-	-	-	SO:0001583	missense	0			M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.3403C>G	2.37:g.167273228G>C	ENSP00000386796:p.Leu1135Val	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.L1135V	ENST00000409855.1	37	c.3403	CCDS46442.1	2	.	.	.	.	.	.	.	.	.	.	G	16.90	3.249696	0.59212	.	.	ENSG00000136546	ENST00000409855;ENST00000259060	D	0.97430	-4.38	4.87	1.82	0.25136	Ion transport (1);	0.000000	0.50627	D	0.000112	D	0.95614	0.8574	M	0.63208	1.945	0.34774	D	0.73399	P	0.40398	0.716	P	0.45610	0.487	D	0.94523	0.7729	10	0.87932	D	0	.	6.5401	0.22375	0.4982:0.0:0.5018:0.0	.	1135	Q01118	SCN7A_HUMAN	V	1135	ENSP00000386796:L1135V	ENSP00000259060:L1135V	L	-	1	2	SCN7A	166981474	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	1.948000	0.40303	0.161000	0.19458	-0.157000	0.13467	CTG	SCN7A	-	pfam_Ion_trans_dom	ENSG00000136546		0.338	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN7A	HGNC	protein_coding	OTTHUMT00000333745.1	58	0.00	0	G			167273228	167273228	-1	no_errors	ENST00000409855	ensembl	human	known	69_37n	missense	54	15.62	10	SNP	1.000	C
SCN7A	6332	genome.wustl.edu	37	2	167300026	167300026	+	Missense_Mutation	SNP	C	C	G	rs200998554		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:167300026C>G	ENST00000409855.1	-	13	1913	c.1787G>C	c.(1786-1788)cGa>cCa	p.R596P		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	596					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	CCTGAATAATCGAAGAAGAGC	0.353																																						dbGAP											0													63.0	56.0	58.0					2																	167300026		1835	4090	5925	-	-	-	SO:0001583	missense	0			M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.1787G>C	2.37:g.167300026C>G	ENSP00000386796:p.Arg596Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.R596P	ENST00000409855.1	37	c.1787	CCDS46442.1	2	.	.	.	.	.	.	.	.	.	.	C	13.05	2.122523	0.37436	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992	D;D	0.98602	-5.02;-5.02	4.87	-3.82	0.04281	Ion transport (1);	1.159790	0.06484	N	0.733496	D	0.97723	0.9253	M	0.93241	3.395	0.09310	N	1	P	0.35821	0.523	B	0.36808	0.233	D	0.93596	0.6926	10	0.87932	D	0	.	6.4852	0.22085	0.1177:0.4093:0.0:0.473	.	596	Q01118	SCN7A_HUMAN	P	596	ENSP00000386796:R596P;ENSP00000413699:R596P	ENSP00000259060:R596P	R	-	2	0	SCN7A	167008272	0.000000	0.05858	0.000000	0.03702	0.346000	0.29079	0.597000	0.24059	-0.892000	0.03935	-0.216000	0.12614	CGA	SCN7A	-	pfam_Ion_trans_dom	ENSG00000136546		0.353	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN7A	HGNC	protein_coding	OTTHUMT00000333745.1	64	0.00	0	C			167300026	167300026	-1	no_errors	ENST00000409855	ensembl	human	known	69_37n	missense	74	22.11	21	SNP	0.000	G
SCN8A	6334	genome.wustl.edu	37	12	52056722	52056722	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:52056722G>A	ENST00000354534.6	+	2	299	c.121G>A	c.(121-123)Gat>Aat	p.D41N	SCN8A_ENST00000545061.1_Missense_Mutation_p.D41N|SCN8A_ENST00000550891.1_Missense_Mutation_p.D41N	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	41					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	ACCAAAGGCCGATGGCAGTCA	0.552																																						dbGAP											0													91.0	96.0	95.0					12																	52056722		2046	4201	6247	-	-	-	SO:0001583	missense	0			AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.121G>A	12.37:g.52056722G>A	ENSP00000346534:p.Asp41Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.D41N	ENST00000354534.6	37	c.121	CCDS44891.1	12	.	.	.	.	.	.	.	.	.	.	G	21.8	4.203775	0.79127	.	.	ENSG00000196876	ENST00000550891;ENST00000354534;ENST00000545061;ENST00000355133	D;D;D;D	0.95918	-3.82;-3.85;-3.82;-3.68	5.12	5.12	0.69794	.	.	.	.	.	D	0.93543	0.7939	L	0.57536	1.79	0.80722	D	1	B	0.32128	0.357	B	0.18871	0.023	D	0.92771	0.6232	9	0.72032	D	0.01	.	19.1381	0.93436	0.0:0.0:1.0:0.0	.	41	Q9UQD0	SCN8A_HUMAN	N	41	ENSP00000448415:D41N;ENSP00000346534:D41N;ENSP00000440360:D41N;ENSP00000347255:D41N	ENSP00000346534:D41N	D	+	1	0	SCN8A	50342989	1.000000	0.71417	0.970000	0.41538	0.980000	0.70556	9.263000	0.95617	2.836000	0.97738	0.655000	0.94253	GAT	SCN8A	-	NULL	ENSG00000196876		0.552	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN8A	HGNC	protein_coding	OTTHUMT00000404372.3	50	0.00	0	G	NM_014191		52056722	52056722	+1	no_errors	ENST00000354534	ensembl	human	known	69_37n	missense	40	24.53	13	SNP	1.000	A
SCN9A	6335	genome.wustl.edu	37	2	167085206	167085206	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:167085206G>C	ENST00000409435.1	-	21	4200	c.4201C>G	c.(4201-4203)Caa>Gaa	p.Q1401E	SCN9A_ENST00000303354.6_Missense_Mutation_p.Q1402E|SCN9A_ENST00000375387.4_Missense_Mutation_p.Q1402E|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.Q1390E			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1401					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTTACAACTTGAAGCAGAGAT	0.318																																						dbGAP											0													158.0	155.0	156.0					2																	167085206		1860	4107	5967	-	-	-	SO:0001583	missense	0			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.4201C>G	2.37:g.167085206G>C	ENSP00000386330:p.Gln1401Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.Q1402E	ENST00000409435.1	37	c.4204	CCDS46441.1	2	.	.	.	.	.	.	.	.	.	.	G	26.3	4.721114	0.89205	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.97529	-4.42;-4.42;-4.42;-4.42	5.23	5.23	0.72850	.	0.000000	0.64402	D	0.000002	D	0.98626	0.9540	M	0.87682	2.9	0.58432	D	0.999999	D	0.89917	1.0	D	0.81914	0.995	D	0.99758	1.1020	10	0.87932	D	0	.	18.8019	0.92022	0.0:0.0:1.0:0.0	.	1390	E7EUN6	.	E	1390;1402;1402;1401	ENSP00000386306:Q1390E;ENSP00000364536:Q1402E;ENSP00000304748:Q1402E;ENSP00000386330:Q1401E	ENSP00000304748:Q1402E	Q	-	1	0	SCN9A	166793452	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.778000	0.99011	2.454000	0.82982	0.557000	0.71058	CAA	SCN9A	-	pfam_Ion_trans_dom	ENSG00000169432		0.318	SCN9A-004	KNOWN	basic|CCDS	protein_coding	SCN9A	HGNC	protein_coding	OTTHUMT00000333639.1	79	0.00	0	G	NM_002977		167085206	167085206	-1	no_errors	ENST00000303354	ensembl	human	known	69_37n	missense	89	23.28	27	SNP	1.000	C
SCN9A	6335	genome.wustl.edu	37	2	167099064	167099064	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:167099064C>G	ENST00000409435.1	-	18	3574	c.3575G>C	c.(3574-3576)aGt>aCt	p.S1192T	SCN9A_ENST00000303354.6_Missense_Mutation_p.S1193T|SCN9A_ENST00000375387.4_Missense_Mutation_p.S1193T|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.S1181T			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1192					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTCAAACCAACTGTGTTCAAC	0.408																																						dbGAP											0													95.0	94.0	94.0					2																	167099064		2017	4218	6235	-	-	-	SO:0001583	missense	0			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.3575G>C	2.37:g.167099064C>G	ENSP00000386330:p.Ser1192Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.S1193T	ENST00000409435.1	37	c.3578	CCDS46441.1	2	.	.	.	.	.	.	.	.	.	.	C	15.52	2.858916	0.51376	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.84944	-1.92;-1.92;-1.92;-1.92	5.01	2.65	0.31530	.	0.195219	0.36409	N	0.002618	D	0.82582	0.5068	M	0.69358	2.11	0.34257	D	0.679468	B	0.14438	0.01	B	0.24006	0.05	D	0.84162	0.0429	10	0.59425	D	0.04	.	10.3916	0.44175	0.0:0.7168:0.0:0.2832	.	1181	E7EUN6	.	T	1181;1193;1193;1192	ENSP00000386306:S1181T;ENSP00000364536:S1193T;ENSP00000304748:S1193T;ENSP00000386330:S1192T	ENSP00000304748:S1193T	S	-	2	0	SCN9A	166807310	1.000000	0.71417	0.992000	0.48379	0.996000	0.88848	1.819000	0.39022	1.075000	0.40932	0.650000	0.86243	AGT	SCN9A	-	pfam_Na_trans_assoc	ENSG00000169432		0.408	SCN9A-004	KNOWN	basic|CCDS	protein_coding	SCN9A	HGNC	protein_coding	OTTHUMT00000333639.1	121	0.00	0	C	NM_002977		167099064	167099064	-1	no_errors	ENST00000303354	ensembl	human	known	69_37n	missense	83	22.43	24	SNP	0.998	G
SCN9A	6335	genome.wustl.edu	37	2	167108278	167108278	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:167108278C>T	ENST00000409435.1	-	17	3468	c.3469G>A	c.(3469-3471)Gat>Aat	p.D1157N	SCN9A_ENST00000303354.6_Missense_Mutation_p.D1158N|SCN9A_ENST00000375387.4_Missense_Mutation_p.D1158N|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.D1146N			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1157					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GTCTTACCATCTGTGAAACAG	0.458																																						dbGAP											0													106.0	100.0	102.0					2																	167108278		1883	4117	6000	-	-	-	SO:0001583	missense	0			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.3469G>A	2.37:g.167108278C>T	ENSP00000386330:p.Asp1157Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.D1158N	ENST00000409435.1	37	c.3472	CCDS46441.1	2	.	.	.	.	.	.	.	.	.	.	C	32	5.129987	0.94473	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94	5.82	5.82	0.92795	.	0.105878	0.41823	D	0.000809	D	0.87478	0.6187	L	0.39397	1.21	0.54753	D	0.999989	P	0.46952	0.887	P	0.53518	0.728	D	0.88191	0.2877	10	0.87932	D	0	.	18.8681	0.92301	0.0:1.0:0.0:0.0	.	1146	E7EUN6	.	N	1146;1158;1158;1157	ENSP00000386306:D1146N;ENSP00000364536:D1158N;ENSP00000304748:D1158N;ENSP00000386330:D1157N	ENSP00000304748:D1158N	D	-	1	0	SCN9A	166816524	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	7.256000	0.78350	2.751000	0.94390	0.650000	0.86243	GAT	SCN9A	-	pfam_Na_trans_assoc	ENSG00000169432		0.458	SCN9A-004	KNOWN	basic|CCDS	protein_coding	SCN9A	HGNC	protein_coding	OTTHUMT00000333639.1	97	0.00	0	C	NM_002977		167108278	167108278	-1	no_errors	ENST00000303354	ensembl	human	known	69_37n	missense	101	14.41	17	SNP	1.000	T
SCN9A	6335	genome.wustl.edu	37	2	167133666	167133666	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:167133666C>T	ENST00000409435.1	-	15	2700	c.2701G>A	c.(2701-2703)Gat>Aat	p.D901N	SCN9A_ENST00000303354.6_Missense_Mutation_p.D902N|SCN9A_ENST00000375387.4_Missense_Mutation_p.D902N|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.D890N			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	901					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GTACAGTCATCATTGATCTTG	0.493																																						dbGAP											0													188.0	176.0	180.0					2																	167133666		2202	4281	6483	-	-	-	SO:0001583	missense	0			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.2701G>A	2.37:g.167133666C>T	ENSP00000386330:p.Asp901Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.D902N	ENST00000409435.1	37	c.2704	CCDS46441.1	2	.	.	.	.	.	.	.	.	.	.	C	11.68	1.710165	0.30322	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.98362	-4.89;-4.89;-4.89;-4.89	5.65	2.72	0.32119	.	1.181460	0.05871	N	0.624572	D	0.93174	0.7826	N	0.04320	-0.23	0.09310	N	1	B	0.02656	0.0	B	0.11329	0.006	D	0.86872	0.2036	10	0.17832	T	0.49	.	8.7584	0.34658	0.0:0.6211:0.0:0.3789	.	890	E7EUN6	.	N	890;902;902;901	ENSP00000386306:D890N;ENSP00000364536:D902N;ENSP00000304748:D902N;ENSP00000386330:D901N	ENSP00000304748:D902N	D	-	1	0	SCN9A	166841912	0.000000	0.05858	0.007000	0.13788	0.910000	0.53928	-0.269000	0.08596	0.778000	0.33520	0.650000	0.86243	GAT	SCN9A	-	pfam_Ion_trans_dom	ENSG00000169432		0.493	SCN9A-004	KNOWN	basic|CCDS	protein_coding	SCN9A	HGNC	protein_coding	OTTHUMT00000333639.1	132	0.00	0	C	NM_002977		167133666	167133666	-1	no_errors	ENST00000303354	ensembl	human	known	69_37n	missense	143	16.37	28	SNP	0.000	T
SCNN1A	6337	genome.wustl.edu	37	12	6457910	6457910	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:6457910C>G	ENST00000228916.2	-	12	1710	c.1612G>C	c.(1612-1614)Gag>Cag	p.E538Q	SCNN1A_ENST00000396966.2_3'UTR|SCNN1A_ENST00000358945.3_Missense_Mutation_p.E560Q|SCNN1A_ENST00000540037.1_Missense_Mutation_p.E238Q|SCNN1A_ENST00000360168.3_Missense_Mutation_p.E597Q|SCNN1A_ENST00000543768.1_Missense_Mutation_p.E561Q	NM_001038.5	NP_001029.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	538					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ciliary membrane (GO:0060170)|cortical actin cytoskeleton (GO:0030864)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	GAGGGAGACTCAGAATTGGTT	0.522																																						dbGAP											0													155.0	138.0	144.0					12																	6457910		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z92978	CCDS8543.1, CCDS53738.1, CCDS53739.1	12p13	2012-02-28	2012-02-28		ENSG00000111319	ENSG00000111319		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10599	protein-coding gene	gene with protein product		600228	"""sodium channel, nonvoltage-gated 1 alpha"", ""sodium channel, non-voltage-gated 1 alpha"""	SCNN1		7896277	Standard	NM_001038		Approved	ENaCalpha	uc001qnw.3	P37088	OTTHUMG00000168268	ENST00000228916.2:c.1612G>C	12.37:g.6457910C>G	ENSP00000228916:p.Glu538Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A5X2U9|B4E2Q5|C5HTZ0|O43271|Q6GSQ6|Q9UM64	Missense_Mutation	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.E560Q	ENST00000228916.2	37	c.1678	CCDS8543.1	12	.	.	.	.	.	.	.	.	.	.	C	23.9	4.470701	0.84533	.	.	ENSG00000111319	ENST00000360168;ENST00000358945;ENST00000540037;ENST00000228916;ENST00000543768	T;T;T;T;T	0.62364	0.03;0.03;0.03;0.03;0.03	5.0	5.0	0.66597	.	0.000000	0.64402	D	0.000003	T	0.79464	0.4450	M	0.79011	2.435	0.54753	D	0.999986	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.82497	-0.0428	10	0.87932	D	0	-30.6766	15.7833	0.78281	0.0:1.0:0.0:0.0	.	561;538;597	B4E2Q5;P37088;P37088-2	.;SCNNA_HUMAN;.	Q	597;560;238;538;561	ENSP00000353292:E597Q;ENSP00000351825:E560Q;ENSP00000440876:E238Q;ENSP00000228916:E538Q;ENSP00000438739:E561Q	ENSP00000228916:E538Q	E	-	1	0	SCNN1A	6328171	0.999000	0.42202	1.000000	0.80357	0.969000	0.65631	5.399000	0.66314	2.331000	0.79229	0.591000	0.81541	GAG	SCNN1A	-	pfam_Na+channel_ASC,prints_Na+channel_ASC	ENSG00000111319		0.522	SCNN1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SCNN1A	HGNC	protein_coding	OTTHUMT00000399055.1	36	0.00	0	C			6457910	6457910	-1	no_errors	ENST00000358945	ensembl	human	known	69_37n	missense	19	45.71	16	SNP	1.000	G
SCNN1A	6337	genome.wustl.edu	37	12	6483783	6483783	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:6483783C>T	ENST00000228916.2	-	2	265	c.167G>A	c.(166-168)cGa>cAa	p.R56Q	LTBR_ENST00000539925.1_5'Flank|SCNN1A_ENST00000538979.1_Intron|SCNN1A_ENST00000396966.2_Missense_Mutation_p.R56Q|SCNN1A_ENST00000358945.3_Missense_Mutation_p.R56Q|SCNN1A_ENST00000360168.3_Missense_Mutation_p.R115Q|SCNN1A_ENST00000543768.1_Missense_Mutation_p.R79Q	NM_001038.5	NP_001029.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	56					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ciliary membrane (GO:0060170)|cortical actin cytoskeleton (GO:0030864)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	GAAGAGCTCTCGGTAGGAGCG	0.662																																						dbGAP											0													73.0	59.0	64.0					12																	6483783		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z92978	CCDS8543.1, CCDS53738.1, CCDS53739.1	12p13	2012-02-28	2012-02-28		ENSG00000111319	ENSG00000111319		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10599	protein-coding gene	gene with protein product		600228	"""sodium channel, nonvoltage-gated 1 alpha"", ""sodium channel, non-voltage-gated 1 alpha"""	SCNN1		7896277	Standard	NM_001038		Approved	ENaCalpha	uc001qnw.3	P37088	OTTHUMG00000168268	ENST00000228916.2:c.167G>A	12.37:g.6483783C>T	ENSP00000228916:p.Arg56Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A5X2U9|B4E2Q5|C5HTZ0|O43271|Q6GSQ6|Q9UM64	Missense_Mutation	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.R56Q	ENST00000228916.2	37	c.167	CCDS8543.1	12	.	.	.	.	.	.	.	.	.	.	C	17.82	3.484301	0.63962	.	.	ENSG00000111319	ENST00000360168;ENST00000358945;ENST00000228916;ENST00000396966;ENST00000543768;ENST00000536788	T;T;T;T;T;D	0.85955	-0.62;-0.61;-0.56;-0.18;-0.6;-2.05	4.82	4.82	0.62117	.	0.130542	0.34628	N	0.003818	T	0.81749	0.4888	L	0.55103	1.725	0.34645	D	0.721057	D;P;P	0.53745	0.962;0.933;0.87	B;B;B	0.40444	0.301;0.223;0.329	D	0.87485	0.2423	10	0.42905	T	0.14	-24.488	15.3895	0.74731	0.0:1.0:0.0:0.0	.	79;56;115	B4E2Q5;P37088;P37088-2	.;SCNNA_HUMAN;.	Q	115;56;56;56;79;77	ENSP00000353292:R115Q;ENSP00000351825:R56Q;ENSP00000228916:R56Q;ENSP00000380166:R56Q;ENSP00000438739:R79Q;ENSP00000443434:R77Q	ENSP00000228916:R56Q	R	-	2	0	SCNN1A	6354044	0.935000	0.31712	0.982000	0.44146	0.992000	0.81027	1.719000	0.38011	2.234000	0.73211	0.491000	0.48974	CGA	SCNN1A	-	tigrfam_EnaC	ENSG00000111319		0.662	SCNN1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SCNN1A	HGNC	protein_coding	OTTHUMT00000399055.1	43	0.00	0	C			6483783	6483783	-1	no_errors	ENST00000358945	ensembl	human	known	69_37n	missense	35	18.60	8	SNP	0.985	T
SCOC	60592	genome.wustl.edu	37	4	141302167	141302167	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:141302167C>T	ENST00000608372.1	+	4	416	c.389C>T	c.(388-390)tCa>tTa	p.S130L	SCOC_ENST00000394205.3_Missense_Mutation_p.S93L|SCOC_ENST00000512749.1_Missense_Mutation_p.S53L|SCOC_ENST00000338517.4_Missense_Mutation_p.S93L|SCOC_ENST00000394203.3_Missense_Mutation_p.S93L|SCOC_ENST00000394201.4_Missense_Mutation_p.S53L|SCOC_ENST00000510586.1_Missense_Mutation_p.S53L|SCOC_ENST00000502535.1_Missense_Mutation_p.S53L|SCOC_ENST00000506322.1_Missense_Mutation_p.S53L|SCOC_ENST00000506597.1_Missense_Mutation_p.S102L			Q9UIL1	SCOC_HUMAN	short coiled-coil protein	130					positive regulation of macroautophagy (GO:0016239)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5	all_hematologic(180;0.162)					AAGCTAAAATCAGAAAACCAA	0.308																																						dbGAP											0													51.0	56.0	55.0					4																	141302167		2203	4298	6501	-	-	-	SO:0001583	missense	0			AK027797	CCDS3750.1, CCDS54806.1, CCDS54807.1	4q28.3	2014-05-22	2003-03-19		ENSG00000153130	ENSG00000153130			20335	protein-coding gene	gene with protein product			"""short coiled coil protein"""			11303027	Standard	NM_032547		Approved	HRIHFB2072, SCOCO	uc011che.1	Q9UIL1	OTTHUMG00000133416	ENST00000608372.1:c.389C>T	4.37:g.141302167C>T	ENSP00000477352:p.Ser130Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B7WPH7|D3DNY7|E9PB65|Q6P5T9|Q7L2Y0|Q7Z4P2|Q96JY9|Q9BZB2	Missense_Mutation	SNP	pfam_DUF2205_coiled-coil	p.S130L	ENST00000608372.1	37	c.389	CCDS54806.1	4	.	.	.	.	.	.	.	.	.	.	C	26.1	4.703766	0.88924	.	.	ENSG00000153130	ENST00000394205;ENST00000338517;ENST00000394203;ENST00000506322;ENST00000512749;ENST00000394201;ENST00000506597;ENST00000502535	.	.	.	5.58	5.58	0.84498	.	0.057925	0.64402	N	0.000001	T	0.77287	0.4108	L	0.55213	1.73	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.996;0.998;0.998;0.999;0.999	T	0.78420	-0.2211	9	0.87932	D	0	-25.5695	19.569	0.95405	0.0:1.0:0.0:0.0	.	25;102;130;92;93	Q9UIL1-4;E9PB65;Q9UIL1;Q9UIL1-3;Q9UIL1-2	.;.;SCOC_HUMAN;.;.	L	93;93;93;53;53;130;102;53	.	ENSP00000345262:S93L	S	+	2	0	SCOC	141521617	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.789000	0.85783	2.637000	0.89404	0.585000	0.79938	TCA	SCOC	-	pfam_DUF2205_coiled-coil	ENSG00000153130		0.308	SCOC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCOC	HGNC	protein_coding	OTTHUMT00000257274.2	57	0.00	0	C			141302167	141302167	+1	no_errors	ENST00000394201	ensembl	human	known	69_37n	missense	28	22.22	8	SNP	1.000	T
SCRIB	23513	genome.wustl.edu	37	8	144890907	144890907	+	Missense_Mutation	SNP	C	C	G	rs201714353	byFrequency	TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:144890907C>G	ENST00000320476.3	-	15	1993	c.1987G>C	c.(1987-1989)Gag>Cag	p.E663Q	SCRIB_ENST00000377533.3_Missense_Mutation_p.E582Q|SCRIB_ENST00000356994.2_Missense_Mutation_p.E663Q	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	663	Glu-rich.|Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			tcttcctcctcctcctcctcc	0.662																																					Pancreas(51;966 1133 10533 14576 29674)	dbGAP											0													64.0	65.0	64.0					8																	144890907		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.1987G>C	8.37:g.144890907C>G	ENSP00000322938:p.Glu663Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.E663Q	ENST00000320476.3	37	c.1987	CCDS6411.1	8	.	.	.	.	.	.	.	.	.	.	c	7.981	0.751275	0.15778	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533;ENST00000377539	T;T;T	0.37752	1.41;1.38;1.18	4.19	0.794	0.18638	.	.	.	.	.	T	0.15609	0.0376	N	0.08118	0	0.41956	D	0.990686	B;B	0.20671	0.028;0.047	B;B	0.18561	0.01;0.022	T	0.07790	-1.0754	9	0.40728	T	0.16	.	4.3877	0.11325	0.0:0.461:0.1733:0.3658	.	663;663	Q14160;Q14160-3	SCRIB_HUMAN;.	Q	663;663;582;32	ENSP00000349486:E663Q;ENSP00000322938:E663Q;ENSP00000366756:E582Q	ENSP00000322938:E663Q	E	-	1	0	SCRIB	144962895	0.024000	0.19004	0.986000	0.45419	0.344000	0.29017	2.420000	0.44679	0.756000	0.33013	0.401000	0.26515	GAG	SCRIB	-	NULL	ENSG00000180900		0.662	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SCRIB	HGNC	protein_coding	OTTHUMT00000382215.1	58	0.00	0	C	NM_015356		144890907	144890907	-1	no_errors	ENST00000320476	ensembl	human	known	69_37n	missense	65	37.50	39	SNP	0.999	G
SCRIB	23513	genome.wustl.edu	37	8	144892910	144892910	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:144892910G>A	ENST00000320476.3	-	12	1356	c.1350C>T	c.(1348-1350)ttC>ttT	p.F450F	SCRIB_ENST00000377533.3_Silent_p.F369F|MIR937_ENST00000401271.1_RNA|SCRIB_ENST00000356994.2_Silent_p.F450F	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	450	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GGGCCTCCAGGAACTGGATGA	0.662																																					Pancreas(51;966 1133 10533 14576 29674)	dbGAP											0													80.0	77.0	78.0					8																	144892910		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.1350C>T	8.37:g.144892910G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Silent	SNP	pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.F450	ENST00000320476.3	37	c.1350	CCDS6411.1	8																																																																																			SCRIB	-	NULL	ENSG00000180900		0.662	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SCRIB	HGNC	protein_coding	OTTHUMT00000382215.1	33	0.00	0	G	NM_015356		144892910	144892910	-1	no_errors	ENST00000320476	ensembl	human	known	69_37n	silent	55	19.12	13	SNP	0.999	A
SCRIB	23513	genome.wustl.edu	37	8	144895654	144895654	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:144895654G>C	ENST00000320476.3	-	5	495	c.489C>G	c.(487-489)ctC>ctG	p.L163L	SCRIB_ENST00000377533.3_Silent_p.L82L|MIR937_ENST00000401271.1_RNA|SCRIB_ENST00000356994.2_Silent_p.L163L	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	163	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GCAGGGACTTGAGCAGGTTCT	0.647																																					Pancreas(51;966 1133 10533 14576 29674)	dbGAP											0													43.0	42.0	43.0					8																	144895654		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.489C>G	8.37:g.144895654G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Silent	SNP	pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.L163	ENST00000320476.3	37	c.489	CCDS6411.1	8																																																																																			SCRIB	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000180900		0.647	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SCRIB	HGNC	protein_coding	OTTHUMT00000382215.1	35	0.00	0	G	NM_015356		144895654	144895654	-1	no_errors	ENST00000320476	ensembl	human	known	69_37n	silent	59	18.06	13	SNP	0.992	C
SCUBE1	80274	genome.wustl.edu	37	22	43619223	43619223	+	Splice_Site	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:43619223C>G	ENST00000360835.4	-	11	1334		c.e11-1			NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				TTGCCTGTCTCTATGAAGGGA	0.642																																						dbGAP											0													72.0	79.0	77.0					22																	43619223		2203	4298	6501	-	-	-	SO:0001630	splice_region_variant	0				CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.1208-1G>C	22.37:g.43619223C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5R336	Splice_Site	SNP	-	e11-1	ENST00000360835.4	37	c.1208-1	CCDS14048.1	22	.	.	.	.	.	.	.	.	.	.	C	12.86	2.063454	0.36373	.	.	ENSG00000159307	ENST00000360835	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7977	0.92001	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SCUBE1	41949167	1.000000	0.71417	0.893000	0.35052	0.024000	0.10985	6.902000	0.75699	2.666000	0.90696	0.561000	0.74099	.	SCUBE1	-	-	ENSG00000159307		0.642	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCUBE1	HGNC	protein_coding	OTTHUMT00000319582.3	15	0.00	0	C	NM_173050	Intron	43619223	43619223	-1	no_errors	ENST00000360835	ensembl	human	known	69_37n	splice_site	10	33.33	5	SNP	1.000	G
SCUBE3	222663	genome.wustl.edu	37	6	35200679	35200679	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:35200679G>A	ENST00000274938.7	+	5	522	c.522G>A	c.(520-522)gaG>gaA	p.E174E	SCUBE3_ENST00000394681.1_Silent_p.E174E	NM_152753.2	NP_689966.2			signal peptide, CUB domain, EGF-like 3											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						TTTGCCGGGAGACACCCAAGG	0.507																																						dbGAP											0													125.0	124.0	124.0					6																	35200679		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF452494.1	CCDS4800.1	6p21.3	2008-02-05	2004-05-19	2004-05-21		ENSG00000146197			13655	protein-coding gene	gene with protein product		614708	"""CUB domain and EGF-like repeat containing 3"""	CEGF3		12270931	Standard	NM_152753		Approved	FLJ34743	uc003okf.1	Q8IX30		ENST00000274938.7:c.522G>A	6.37:g.35200679G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_EGF-like_Ca-bd,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EGF-like_dom,pfam_CUB,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_CUB,prints_Thrombomodulin,pfscan_CUB,pfscan_EG-like_dom	p.E174	ENST00000274938.7	37	c.522	CCDS4800.1	6																																																																																			SCUBE3	-	smart_EGF-like	ENSG00000146197		0.507	SCUBE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCUBE3	HGNC	protein_coding	OTTHUMT00000040275.1	60	0.00	0	G	NM_152753		35200679	35200679	+1	no_errors	ENST00000394681	ensembl	human	known	69_37n	silent	21	62.50	35	SNP	1.000	A
SCYL2	55681	genome.wustl.edu	37	12	100706413	100706413	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:100706413C>A	ENST00000360820.2	+	6	1271	c.834C>A	c.(832-834)ttC>ttA	p.F278L		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	278	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				endosome to lysosome transport (GO:0008333)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of receptor internalization (GO:0002092)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						ACAAGAGTTTCAGTAGGCAGT	0.299																																						dbGAP											0													66.0	67.0	67.0					12																	100706413		2203	4299	6502	-	-	-	SO:0001583	missense	0			AB037781	CCDS9076.1	12q23.1	2005-01-20				ENSG00000136021			19286	protein-coding gene	gene with protein product						10718198	Standard	NM_017988		Approved	KIAA1360	uc001thn.3	Q6P3W7	OTTHUMG00000170319	ENST00000360820.2:c.834C>A	12.37:g.100706413C>A	ENSP00000354061:p.Phe278Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	p.F278L	ENST00000360820.2	37	c.834	CCDS9076.1	12	.	.	.	.	.	.	.	.	.	.	C	17.75	3.465402	0.63513	.	.	ENSG00000136021	ENST00000549687;ENST00000258506;ENST00000360820	T;T	0.72394	-0.65;-0.65	5.97	3.13	0.36017	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.58452	0.2123	N	0.25825	0.765	0.80722	D	1	B	0.30361	0.277	B	0.39935	0.314	T	0.40608	-0.9554	10	0.11794	T	0.64	.	9.9778	0.41795	0.0:0.6993:0.0:0.3007	.	278	Q6P3W7	SCYL2_HUMAN	L	278;105;278	ENSP00000448366:F278L;ENSP00000354061:F278L	ENSP00000258506:F105L	F	+	3	2	SCYL2	99230544	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.668000	0.37481	0.395000	0.25257	0.655000	0.94253	TTC	SCYL2	-	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	ENSG00000136021		0.299	SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCYL2	HGNC	protein_coding	OTTHUMT00000408493.2	96	0.00	0	C	NM_017988		100706413	100706413	+1	no_errors	ENST00000360820	ensembl	human	known	69_37n	missense	95	14.29	16	SNP	1.000	A
SDCCAG3	10807	genome.wustl.edu	37	9	139301688	139301688	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:139301688G>A	ENST00000357365.3	-	5	857	c.728C>T	c.(727-729)tCt>tTt	p.S243F	SDCCAG3_ENST00000371725.3_Missense_Mutation_p.S170F|SDCCAG3_ENST00000461693.1_5'Flank|SDCCAG3_ENST00000298537.7_Missense_Mutation_p.S220F	NM_001039707.1	NP_001034796.1	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3	243						cytoplasm (GO:0005737)				NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		CCCTGCCGGAGAGGCCGGAGA	0.592																																						dbGAP											0													28.0	30.0	29.0					9																	139301688		2020	4189	6209	-	-	-	SO:0001583	missense	0			AF039688	CCDS6999.2, CCDS43903.1, CCDS43904.1	9q34.3	2010-10-27			ENSG00000165689	ENSG00000165689			10667	protein-coding gene	gene with protein product						9610721	Standard	XM_005266050		Approved	NY-CO-3	uc004chi.3	Q96C92	OTTHUMG00000020928	ENST00000357365.3:c.728C>T	9.37:g.139301688G>A	ENSP00000349929:p.Ser243Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NCP1|O60525|Q5SXN1|Q5SXN2|Q5SXN3|Q5SXN4|Q5SXN8|Q6V704|Q9NVY5	Missense_Mutation	SNP	NULL	p.S243F	ENST00000357365.3	37	c.728	CCDS43904.1	9	.	.	.	.	.	.	.	.	.	.	G	17.53	3.413432	0.62511	.	.	ENSG00000165689	ENST00000357365;ENST00000298537;ENST00000371725;ENST00000371723	T;T;T;T	0.39592	1.86;2.02;1.95;1.07	5.4	5.4	0.78164	.	0.160166	0.44285	D	0.000466	T	0.58090	0.2098	M	0.62723	1.935	0.28609	N	0.908754	D;D;D	0.89917	0.996;1.0;1.0	D;D;D	0.74023	0.942;0.982;0.982	T	0.54186	-0.8331	10	0.09084	T	0.74	-5.0503	16.6728	0.85271	0.0:0.0:1.0:0.0	.	170;220;243	Q96C92-4;Q96C92-2;Q96C92	.;.;SDCG3_HUMAN	F	243;220;170;193	ENSP00000349929:S243F;ENSP00000298537:S220F;ENSP00000360790:S170F;ENSP00000360788:S193F	ENSP00000298537:S220F	S	-	2	0	SDCCAG3	138421509	0.835000	0.29415	0.081000	0.20488	0.438000	0.31896	5.159000	0.64923	2.521000	0.84997	0.655000	0.94253	TCT	SDCCAG3	-	NULL	ENSG00000165689		0.592	SDCCAG3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SDCCAG3	HGNC	protein_coding	OTTHUMT00000055060.2	32	0.00	0	G	NM_006643		139301688	139301688	-1	no_errors	ENST00000357365	ensembl	human	known	69_37n	missense	35	28.57	14	SNP	0.412	A
SDCCAG8	10806	genome.wustl.edu	37	1	243493899	243493899	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:243493899G>C	ENST00000366541.3	+	10	1244	c.1126G>C	c.(1126-1128)Gaa>Caa	p.E376Q	SDCCAG8_ENST00000355875.4_Missense_Mutation_p.E333Q|SDCCAG8_ENST00000343783.6_Missense_Mutation_p.E231Q	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	376	Sufficient for homodimerization. {ECO:0000250}.				establishment of cell polarity (GO:0030010)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|tube formation (GO:0035148)	cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)		p.E376Q(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		GGAGCGACTTGAAAAAGAACT	0.443																																						dbGAP											1	Substitution - Missense(1)	lung(1)											69.0	66.0	67.0					1																	243493899		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF039690	CCDS31075.1	1q43	2011-08-02			ENSG00000054282	ENSG00000054282			10671	protein-coding gene	gene with protein product		613524				9610721, 20835237	Standard	NM_006642		Approved	NY-CO-8, CCCAP, SLSN7, NPHP10, BBS16	uc001hzw.3	Q86SQ7	OTTHUMG00000039996	ENST00000366541.3:c.1126G>C	1.37:g.243493899G>C	ENSP00000355499:p.Glu376Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O60527|Q3ZCR6|Q8N5F2|Q9P0F1	Missense_Mutation	SNP	NULL	p.E376Q	ENST00000366541.3	37	c.1126	CCDS31075.1	1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.737755	0.69304	.	.	ENSG00000054282	ENST00000355875;ENST00000366541;ENST00000343783;ENST00000435549	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.78	4.86	0.63082	.	0.098785	0.64402	D	0.000002	T	0.63616	0.2526	M	0.71581	2.175	0.32196	N	0.578471	P;D	0.76494	0.835;0.999	P;D	0.66979	0.453;0.948	T	0.69439	-0.5145	10	0.26408	T	0.33	-1.24	12.9067	0.58156	0.0:0.163:0.837:0.0	.	333;376	E9PFS7;Q86SQ7	.;SDCG8_HUMAN	Q	333;376;231;156	ENSP00000348137:E333Q;ENSP00000355499:E376Q;ENSP00000341260:E231Q;ENSP00000410200:E156Q	ENSP00000341260:E231Q	E	+	1	0	SDCCAG8	241560522	1.000000	0.71417	0.907000	0.35723	0.899000	0.52679	2.123000	0.41996	1.424000	0.47217	0.655000	0.94253	GAA	SDCCAG8	-	NULL	ENSG00000054282		0.443	SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDCCAG8	HGNC	protein_coding	OTTHUMT00000096485.1	43	0.00	0	G	NM_006642		243493899	243493899	+1	no_errors	ENST00000366541	ensembl	human	known	69_37n	missense	43	16.98	9	SNP	1.000	C
SDK1	221935	genome.wustl.edu	37	7	3861174	3861174	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:3861174G>A	ENST00000404826.2	+	5	945	c.806G>A	c.(805-807)gGa>gAa	p.G269E	SDK1_ENST00000389531.3_Missense_Mutation_p.G269E	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	269	Ig-like C2-type 2.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GAGAAAAATGGAGAAAACAAG	0.433																																						dbGAP											0													126.0	127.0	127.0					7																	3861174		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.806G>A	7.37:g.3861174G>A	ENSP00000385899:p.Gly269Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	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.G269E	ENST00000404826.2	37	c.806	CCDS34590.1	7	.	.	.	.	.	.	.	.	.	.	G	27.8	4.863808	0.91511	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.73152	-0.72;-0.72	5.91	5.03	0.67393	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.000000	0.46758	D	0.000272	D	0.85371	0.5681	M	0.83012	2.62	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.87938	0.2715	10	0.87932	D	0	.	16.5173	0.84304	0.0:0.0:0.868:0.1319	.	269	Q7Z5N4	SDK1_HUMAN	E	269	ENSP00000385899:G269E;ENSP00000374182:G269E	ENSP00000374182:G269E	G	+	2	0	SDK1	3827700	1.000000	0.71417	0.979000	0.43373	0.996000	0.88848	9.685000	0.98661	1.484000	0.48361	0.655000	0.94253	GGA	SDK1	-	pfam_Ig_I-set,smart_Ig_sub	ENSG00000146555		0.433	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK1	HGNC	protein_coding	OTTHUMT00000323702.1	57	0.00	0	G	NM_152744		3861174	3861174	+1	no_errors	ENST00000404826	ensembl	human	known	69_37n	missense	44	24.14	14	SNP	1.000	A
SDK1	221935	genome.wustl.edu	37	7	4167016	4167016	+	Missense_Mutation	SNP	C	C	T	rs139818000		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:4167016C>T	ENST00000404826.2	+	26	3966	c.3827C>T	c.(3826-3828)cCt>cTt	p.P1276L	SDK1_ENST00000389531.3_Missense_Mutation_p.P1276L	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1276					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TTTGCAGTTCCTTCAGCCGCC	0.468																																						dbGAP											0													122.0	121.0	121.0					7																	4167016		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.3827C>T	7.37:g.4167016C>T	ENSP00000385899:p.Pro1276Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	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.P1276L	ENST00000404826.2	37	c.3827	CCDS34590.1	7	.	.	.	.	.	.	.	.	.	.	C	29.4	5.005759	0.93287	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	D;D	0.86432	-2.12;-2.12	5.62	5.62	0.85841	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	D	0.96436	0.8837	H	0.98629	4.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.97900	1.0302	10	0.87932	D	0	.	17.8418	0.88717	0.0:1.0:0.0:0.0	.	1276;1276	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	L	1276	ENSP00000385899:P1276L;ENSP00000374182:P1276L	ENSP00000374182:P1276L	P	+	2	0	SDK1	4133542	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	6.857000	0.75455	2.639000	0.89480	0.650000	0.86243	CCT	SDK1	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000146555		0.468	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK1	HGNC	protein_coding	OTTHUMT00000323702.1	59	0.00	0	C	NM_152744		4167016	4167016	+1	no_errors	ENST00000404826	ensembl	human	known	69_37n	missense	45	25.00	15	SNP	1.000	T
SDK2	54549	genome.wustl.edu	37	17	71390362	71390362	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:71390362C>T	ENST00000392650.3	-	26	3694	c.3694G>A	c.(3694-3696)Gtg>Atg	p.V1232M	SDK2_ENST00000388726.3_Missense_Mutation_p.V1232M	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1232	Fibronectin type-III 7. {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						TAGCCCAGCACGAGCCCGTTG	0.647																																						dbGAP											0													34.0	30.0	31.0					17																	71390362		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.3694G>A	17.37:g.71390362C>T	ENSP00000376421:p.Val1232Met	Somatic		WXS	Illumina GAIIx	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.V1232M	ENST00000392650.3	37	c.3694	CCDS45769.1	17	.	.	.	.	.	.	.	.	.	.	C	13.25	2.180457	0.38511	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893	T;T;T	0.59224	0.28;0.28;0.28	5.19	4.2	0.49525	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.131459	0.51477	D	0.000086	T	0.66137	0.2759	M	0.67517	2.055	0.39156	D	0.962319	D;D;D	0.60575	0.985;0.988;0.985	P;P;P	0.59546	0.859;0.824;0.73	T	0.68796	-0.5314	10	0.56958	D	0.05	.	6.8211	0.23857	0.0:0.6953:0.1529:0.1518	.	1232;1232;1232	Q58EX2-2;Q58EX2;Q58EX2-3	.;SDK2_HUMAN;.	M	856;1232;1232;408;1232	ENSP00000376421:V1232M;ENSP00000373378:V1232M;ENSP00000407098:V408M	ENSP00000324967:V1232M	V	-	1	0	SDK2	68901957	0.990000	0.36364	0.851000	0.33527	0.032000	0.12392	2.442000	0.44873	1.160000	0.42584	0.313000	0.20887	GTG	SDK2	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000069188		0.647	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK2	HGNC	protein_coding	OTTHUMT00000327598.2	44	0.00	0	C	NM_019064		71390362	71390362	-1	no_errors	ENST00000392650	ensembl	human	known	69_37n	missense	65	15.58	12	SNP	0.951	T
SDK2	54549	genome.wustl.edu	37	17	71391372	71391372	+	Missense_Mutation	SNP	G	G	A	rs144170771	byFrequency	TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:71391372G>A	ENST00000392650.3	-	25	3514	c.3514C>T	c.(3514-3516)Cgc>Tgc	p.R1172C	SDK2_ENST00000388726.3_Missense_Mutation_p.R1172C	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1172	Fibronectin type-III 6. {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						ACCTGGACGCGGTACTCTGTC	0.672													G|||	5	0.000998403	0.0	0.0	5008	,	,		17623	0.005		0.0	False		,,,				2504	0.0					dbGAP											0													70.0	50.0	57.0					17																	71391372		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.3514C>T	17.37:g.71391372G>A	ENSP00000376421:p.Arg1172Cys	Somatic		WXS	Illumina GAIIx	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.R1172C	ENST00000392650.3	37	c.3514	CCDS45769.1	17	4	0.0018315018315018315	0	0.0	0	0.0	4	0.006993006993006993	0	0.0	G	23.8	4.464593	0.84425	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893	T;T;T	0.58210	0.35;0.35;0.35	5.05	5.05	0.67936	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.119190	0.64402	D	0.000018	T	0.59945	0.2231	M	0.79123	2.44	0.52099	D	0.99994	D;D;D	0.65815	0.995;0.993;0.991	P;P;P	0.56088	0.764;0.791;0.687	T	0.70389	-0.4885	10	0.87932	D	0	.	14.084	0.64944	0.0:0.1505:0.8495:0.0	.	1172;1172;1172	Q58EX2-2;Q58EX2;Q58EX2-3	.;SDK2_HUMAN;.	C	796;1172;1172;348;1172	ENSP00000376421:R1172C;ENSP00000373378:R1172C;ENSP00000407098:R348C	ENSP00000324967:R1172C	R	-	1	0	SDK2	68902967	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	4.584000	0.60971	2.350000	0.79820	0.561000	0.74099	CGC	SDK2	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000069188		0.672	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK2	HGNC	protein_coding	OTTHUMT00000327598.2	22	0.00	0	G	NM_019064		71391372	71391372	-1	no_errors	ENST00000392650	ensembl	human	known	69_37n	missense	48	17.24	10	SNP	1.000	A
SDK2	54549	genome.wustl.edu	37	17	71415322	71415322	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:71415322G>C	ENST00000392650.3	-	16	2169	c.2169C>G	c.(2167-2169)ctC>ctG	p.L723L	SDK2_ENST00000388726.3_Silent_p.L723L	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	723	Fibronectin type-III 2. {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						TGTAACCCTTGAGAATTCCAT	0.597																																						dbGAP											0													56.0	47.0	50.0					17																	71415322		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			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.2169C>G	17.37:g.71415322G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Silent	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.L723	ENST00000392650.3	37	c.2169	CCDS45769.1	17																																																																																			SDK2	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000069188		0.597	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK2	HGNC	protein_coding	OTTHUMT00000327598.2	80	0.00	0	G	NM_019064		71415322	71415322	-1	no_errors	ENST00000392650	ensembl	human	known	69_37n	silent	84	14.29	14	SNP	0.998	C
SDK2	54549	genome.wustl.edu	37	17	71415334	71415334	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:71415334C>G	ENST00000392650.3	-	16	2157	c.2157G>C	c.(2155-2157)caG>caC	p.Q719H	SDK2_ENST00000388726.3_Missense_Mutation_p.Q719H	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	719	Fibronectin type-III 2. {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						GAATTCCATTCTGGTGGCTCT	0.617																																						dbGAP											0													56.0	48.0	51.0					17																	71415334		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.2157G>C	17.37:g.71415334C>G	ENSP00000376421:p.Gln719His	Somatic		WXS	Illumina GAIIx	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.Q719H	ENST00000392650.3	37	c.2157	CCDS45769.1	17	.	.	.	.	.	.	.	.	.	.	C	5.136	0.210704	0.09757	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000316893	T;T	0.57436	0.4;0.4	4.87	3.8	0.43715	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.35508	0.0934	L	0.31804	0.96	0.48511	D	0.999663	B;B	0.12630	0.005;0.006	B;B	0.14023	0.006;0.01	T	0.13548	-1.0505	10	0.19590	T	0.45	.	8.5511	0.33451	0.0:0.785:0.0:0.215	.	719;719	Q58EX2-2;Q58EX2	.;SDK2_HUMAN	H	343;719;719;719	ENSP00000376421:Q719H;ENSP00000373378:Q719H	ENSP00000324967:Q719H	Q	-	3	2	SDK2	68926929	1.000000	0.71417	1.000000	0.80357	0.653000	0.38743	0.922000	0.28734	2.266000	0.75297	0.462000	0.41574	CAG	SDK2	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000069188		0.617	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK2	HGNC	protein_coding	OTTHUMT00000327598.2	86	0.00	0	C	NM_019064		71415334	71415334	-1	no_errors	ENST00000392650	ensembl	human	known	69_37n	missense	80	14.89	14	SNP	1.000	G
SDK2	54549	genome.wustl.edu	37	17	71429906	71429906	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:71429906G>A	ENST00000392650.3	-	10	1277	c.1277C>T	c.(1276-1278)tCg>tTg	p.S426L	SDK2_ENST00000388726.3_Missense_Mutation_p.S426L	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	426	Ig-like C2-type 5.				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						GGGCGCCCCCGAGGTCTCACA	0.567																																						dbGAP											0													49.0	38.0	42.0					17																	71429906		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.1277C>T	17.37:g.71429906G>A	ENSP00000376421:p.Ser426Leu	Somatic		WXS	Illumina GAIIx	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.S426L	ENST00000392650.3	37	c.1277	CCDS45769.1	17	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400605	0.62177	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000316893	T;T	0.68765	-0.35;-0.35	4.8	4.8	0.61643	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.224806	0.38663	N	0.001614	T	0.54727	0.1876	L	0.35341	1.055	0.58432	D	0.99999	P;B	0.40602	0.723;0.272	B;B	0.34652	0.187;0.15	T	0.56208	-0.8017	10	0.29301	T	0.29	.	17.8294	0.88676	0.0:0.0:1.0:0.0	.	426;426	Q58EX2-2;Q58EX2	.;SDK2_HUMAN	L	50;426;426;426	ENSP00000376421:S426L;ENSP00000373378:S426L	ENSP00000324967:S426L	S	-	2	0	SDK2	68941501	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	8.581000	0.90788	2.375000	0.81037	0.462000	0.41574	TCG	SDK2	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000069188		0.567	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK2	HGNC	protein_coding	OTTHUMT00000327598.2	20	0.00	0	G	NM_019064		71429906	71429906	-1	no_errors	ENST00000392650	ensembl	human	known	69_37n	missense	33	35.29	18	SNP	1.000	A
SDR16C5	195814	genome.wustl.edu	37	8	57228644	57228644	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:57228644C>T	ENST00000303749.3	-	2	900	c.263G>A	c.(262-264)gGa>gAa	p.G88E	SDR16C5_ENST00000396721.2_Missense_Mutation_p.G88E|SDR16C5_ENST00000522671.1_Missense_Mutation_p.G88E	NM_138969.2	NP_620419.2	Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	88					detection of light stimulus involved in visual perception (GO:0050908)|keratinocyte proliferation (GO:0043616)|retinal metabolic process (GO:0042574)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	retinol dehydrogenase activity (GO:0004745)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						TCTTGTGGCTCCAGCTTCCCG	0.473																																						dbGAP											0													118.0	120.0	119.0					8																	57228644		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6167.1	8q12.1	2011-09-20			ENSG00000170786	ENSG00000170786	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	30311	protein-coding gene	gene with protein product		608989				12372410	Standard	NM_138969		Approved	RDHE2, RDH-E2	uc003xsy.1	Q8N3Y7	OTTHUMG00000164311	ENST00000303749.3:c.263G>A	8.37:g.57228644C>T	ENSP00000307607:p.Gly88Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DGK2|Q330K3|Q8TDV9|Q96LX1	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.G88E	ENST00000303749.3	37	c.263	CCDS6167.1	8	.	.	.	.	.	.	.	.	.	.	C	19.39	3.819238	0.71028	.	.	ENSG00000170786	ENST00000396721;ENST00000303749;ENST00000522671;ENST00000538514	D;D;D	0.93133	-3.17;-3.17;-2.9	5.14	5.14	0.70334	NAD(P)-binding domain (1);	0.050567	0.85682	D	0.000000	D	0.96250	0.8777	M	0.66506	2.035	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.997	D;D;D	0.78314	0.978;0.977;0.991	D	0.96565	0.9418	10	0.66056	D	0.02	.	18.5981	0.91236	0.0:1.0:0.0:0.0	.	88;88;88	Q8N3Y7-2;G3V145;Q8N3Y7	.;.;RDHE2_HUMAN	E	88	ENSP00000379947:G88E;ENSP00000307607:G88E;ENSP00000431010:G88E	ENSP00000307607:G88E	G	-	2	0	SDR16C5	57391198	0.998000	0.40836	0.398000	0.26321	0.272000	0.26649	4.639000	0.61361	2.408000	0.81797	0.563000	0.77884	GGA	SDR16C5	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR	ENSG00000170786		0.473	SDR16C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDR16C5	HGNC	protein_coding	OTTHUMT00000378235.1	43	0.00	0	C	NM_138969		57228644	57228644	-1	no_errors	ENST00000303749	ensembl	human	known	69_37n	missense	21	66.13	41	SNP	1.000	T
SDSL	113675	genome.wustl.edu	37	12	113867090	113867090	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:113867090C>T	ENST00000403593.4	+	4	602	c.340C>T	c.(340-342)Cag>Tag	p.Q114*	SDSL_ENST00000345635.4_Nonsense_Mutation_p.Q114*			Q96GA7	SDSL_HUMAN	serine dehydratase-like	114					cellular amino acid metabolic process (GO:0006520)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	L-serine ammonia-lyase activity (GO:0003941)|L-threonine ammonia-lyase activity (GO:0004794)|pyridoxal phosphate binding (GO:0030170)			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15						GGCCGAGGTTCAGCTGACTGG	0.617																																						dbGAP											0													52.0	49.0	50.0					12																	113867090		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF134473	CCDS9170.1	12q24.21	2014-06-24				ENSG00000139410			30404	protein-coding gene	gene with protein product						16580895	Standard	NM_138432		Approved	SDS-RS1, cSDH	uc001tvi.3	Q96GA7		ENST00000403593.4:c.340C>T	12.37:g.113867090C>T	ENSP00000385790:p.Gln114*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_PyrdxlP-dep_enz_bsu,superfamily_PyrdxlP-dep_enz_bsu	p.Q114*	ENST00000403593.4	37	c.340	CCDS9170.1	12	.	.	.	.	.	.	.	.	.	.	C	17.68	3.449994	0.63290	.	.	ENSG00000139410	ENST00000403593;ENST00000553248;ENST00000345635	.	.	.	4.67	3.71	0.42584	.	0.448234	0.23055	N	0.052458	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-16.2	11.8028	0.52137	0.0:0.6039:0.3961:0.0	.	.	.	.	X	114;56;114	.	ENSP00000341117:Q114X	Q	+	1	0	SDSL	112351473	0.919000	0.31177	0.967000	0.41034	0.171000	0.22731	1.714000	0.37961	2.133000	0.65898	0.555000	0.69702	CAG	SDSL	-	pfam_PyrdxlP-dep_enz_bsu,superfamily_PyrdxlP-dep_enz_bsu	ENSG00000139410		0.617	SDSL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SDSL	HGNC	protein_coding	OTTHUMT00000404782.1	19	0.00	0	C	NM_138432		113867090	113867090	+1	no_errors	ENST00000345635	ensembl	human	known	69_37n	nonsense	12	61.29	19	SNP	0.985	T
SEC13	6396	genome.wustl.edu	37	3	10343034	10343034	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:10343034C>T	ENST00000350697.3	-	9	1005	c.880G>A	c.(880-882)Gat>Aat	p.D294N	SEC13_ENST00000383801.2_Missense_Mutation_p.D340N|SEC13_ENST00000397109.3_Missense_Mutation_p.D280N|SEC13_ENST00000397117.1_Intron|SEC13_ENST00000337354.4_Missense_Mutation_p.D297N|SEC13_ENST00000492602.1_Intron	NM_183352.1	NP_899195.1	P55735	SEC13_HUMAN	SEC13 homolog (S. cerevisiae)	294					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)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						CACTGCCCATCAACTGACTCC	0.557																																						dbGAP											0													116.0	84.0	95.0					3																	10343034		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2599.1, CCDS46751.1, CCDS63540.1	3p25-p24	2013-01-10	2006-11-07	2006-11-07	ENSG00000157020	ENSG00000157020		"""WD repeat domain containing"""	10697	protein-coding gene	gene with protein product		600152	"""SEC13 (S. cerevisiae)-like 1"", ""SEC13-like 1 (S. cerevisiae)"""	D3S1231E, SEC13L1		7987303	Standard	NM_183352		Approved	SEC13R, npp-20	uc003bvn.3	P55735	OTTHUMG00000128671	ENST00000350697.3:c.880G>A	3.37:g.10343034C>T	ENSP00000312122:p.Asp294Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MV37|B4DXJ1|Q5BJF0|Q9BRM6|Q9BUG7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D294N	ENST00000350697.3	37	c.880	CCDS2599.1	3	.	.	.	.	.	.	.	.	.	.	C	20.1	3.940408	0.73557	.	.	ENSG00000157020	ENST00000397109;ENST00000337354;ENST00000350697;ENST00000383801	T;T;T;T	0.67345	-0.17;-0.17;-0.17;-0.26	5.23	5.23	0.72850	WD40/YVTN repeat-like-containing domain (1);	0.045464	0.85682	D	0.000000	T	0.55273	0.1910	L	0.29908	0.895	0.80722	D	1	P;B	0.39576	0.679;0.001	B;B	0.35931	0.214;0.001	T	0.59867	-0.7373	10	0.46703	T	0.11	.	16.3231	0.82958	0.0:1.0:0.0:0.0	.	340;294	B4DXJ1;P55735	.;SEC13_HUMAN	N	280;297;294;340	ENSP00000380298:D280N;ENSP00000336566:D297N;ENSP00000312122:D294N;ENSP00000373312:D340N	ENSP00000336566:D297N	D	-	1	0	SEC13	10318034	1.000000	0.71417	0.641000	0.29422	0.993000	0.82548	7.696000	0.84270	2.433000	0.82419	0.655000	0.94253	GAT	SEC13	-	NULL	ENSG00000157020		0.557	SEC13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SEC13	HGNC	protein_coding	OTTHUMT00000250563.3	67	0.00	0	C			10343034	10343034	-1	no_errors	ENST00000350697	ensembl	human	known	69_37n	missense	56	21.13	15	SNP	1.000	T
SEC14L4	284904	genome.wustl.edu	37	22	30890862	30890862	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:30890862G>A	ENST00000255858.7	-	6	593	c.510C>T	c.(508-510)gtC>gtT	p.V170V	SEC14L4_ENST00000381982.3_Silent_p.V170V|RP4-539M6.14_ENST00000610156.1_RNA|SEC14L4_ENST00000392772.2_Silent_p.V116V|RP4-539M6.14_ENST00000442126.1_RNA|SEC14L4_ENST00000540456.1_Silent_p.V155V	NM_001161368.1|NM_174977.3	NP_001154840.1|NP_777637.1	Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	170	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	CCTGCTGGTAGACCTCCACAG	0.577																																						dbGAP											0													116.0	91.0	100.0					22																	30890862		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY158085	CCDS13878.1, CCDS54517.1	22q12.1	2003-03-10			ENSG00000133488	ENSG00000133488			20627	protein-coding gene	gene with protein product		612825					Standard	NM_174977		Approved	TAP3, dJ130H16.5	uc003aid.2	Q9UDX3	OTTHUMG00000151258	ENST00000255858.7:c.510C>T	22.37:g.30890862G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A5D6W7|A6NCV4	Silent	SNP	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_GOLD,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,prints_CRAL-bd_toc_tran	p.V170	ENST00000255858.7	37	c.510	CCDS13878.1	22																																																																																			SEC14L4	-	pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	ENSG00000133488		0.577	SEC14L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC14L4	HGNC	protein_coding	OTTHUMT00000321946.1	50	0.00	0	G	NM_174977		30890862	30890862	-1	no_errors	ENST00000255858	ensembl	human	known	69_37n	silent	87	17.92	19	SNP	0.977	A
SEC16B	89866	genome.wustl.edu	37	1	177930798	177930798	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:177930798G>A	ENST00000308284.6	-	6	803	c.714C>T	c.(712-714)ctC>ctT	p.L238L	SEC16B_ENST00000464631.2_Silent_p.L238L|RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	238					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						TGTACTGACTGAGCTCATAGC	0.507																																						dbGAP											0													52.0	53.0	53.0					1																	177930798		1959	4166	6125	-	-	-	SO:0001819	synonymous_variant	0			AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"""regucalcin gene promotor region related protein"""	612855	"""leucine zipper transcription regulator 2"""	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.714C>T	1.37:g.177930798G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Silent	SNP	NULL	p.L238	ENST00000308284.6	37	c.714	CCDS44281.1	1																																																																																			SEC16B	-	NULL	ENSG00000120341		0.507	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC16B	Clone_based_vega_gene	protein_coding	OTTHUMT00000084773.16	57	0.00	0	G	NM_033127		177930798	177930798	-1	no_errors	ENST00000308284	ensembl	human	known	69_37n	silent	44	37.14	26	SNP	1.000	A
SEC22C	9117	genome.wustl.edu	37	3	42610512	42610512	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:42610512C>G	ENST00000264454.3	-	2	170	c.27G>C	c.(25-27)gtG>gtC	p.V9V	SEC22C_ENST00000417572.1_Silent_p.V9V|SEC22C_ENST00000493107.1_5'UTR|SEC22C_ENST00000536332.1_5'UTR|SEC22C_ENST00000273156.7_Silent_p.V9V|SEC22C_ENST00000423701.2_Silent_p.V9V			Q9BRL7	SC22C_HUMAN	SEC22 vesicle trafficking protein homolog C (S. cerevisiae)	9	Longin. {ECO:0000255|PROSITE- ProRule:PRU00231}.				ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)	3				KIRC - Kidney renal clear cell carcinoma(284;0.222)		TTACCCGTACCACGCAGGCAA	0.498																																						dbGAP											0													74.0	67.0	69.0					3																	42610512		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF039568	CCDS2699.1, CCDS2700.1, CCDS56246.1	3p24.3-p22.1	2006-04-25	2006-04-25	2006-04-25	ENSG00000093183	ENSG00000093183			16828	protein-coding gene	gene with protein product		604028	"""SEC22 vesicle trafficking protein-like 3 (S. cerevisiae)"""	SEC22L3		9501016, 11001058	Standard	NM_004206		Approved	MGC13261, MGC5373	uc003clj.3	Q9BRL7	OTTHUMG00000131797	ENST00000264454.3:c.27G>C	3.37:g.42610512C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	O95152|Q68CX3|Q6UW18	Silent	SNP	superfamily_Longin-like_dom,pfscan_Longin_dom	p.V9	ENST00000264454.3	37	c.27	CCDS2700.1	3																																																																																			SEC22C	-	superfamily_Longin-like_dom,pfscan_Longin_dom	ENSG00000093183		0.498	SEC22C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC22C	HGNC	protein_coding	OTTHUMT00000254734.1	68	0.00	0	C	NM_004206		42610512	42610512	-1	no_errors	ENST00000264454	ensembl	human	known	69_37n	silent	40	20.00	10	SNP	1.000	G
SEC24A	10802	genome.wustl.edu	37	5	134018068	134018068	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:134018068G>A	ENST00000398844.2	+	9	1675	c.1387G>A	c.(1387-1389)Gaa>Aaa	p.E463K	SEC24A_ENST00000322887.4_Missense_Mutation_p.E463K	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	463					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)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TATAGTTCCTGAAGAATTCTT	0.328																																						dbGAP											0													90.0	81.0	84.0					5																	134018068		1809	4068	5877	-	-	-	SO:0001583	missense	0			AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"""SEC24 (S. cerevisiae) related gene family, member A"", ""SEC24 family, member A (S. cerevisiae)"""			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.1387G>A	5.37:g.134018068G>A	ENSP00000381823:p.Glu463Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MVW3|Q8WUV2|Q96GP7	Missense_Mutation	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom	p.E463K	ENST00000398844.2	37	c.1387	CCDS43363.1	5	.	.	.	.	.	.	.	.	.	.	G	24.6	4.548888	0.86127	.	.	ENSG00000113615	ENST00000398844;ENST00000322887	T;T	0.76709	-1.04;-1.04	5.71	5.71	0.89125	Zinc finger, Sec23/Sec24-type (1);	0.256458	0.45361	N	0.000366	D	0.84977	0.5592	M	0.63428	1.95	0.80722	D	1	P;P	0.48911	0.917;0.915	P;P	0.58577	0.543;0.841	T	0.81072	-0.1098	10	0.26408	T	0.33	-17.6842	19.8493	0.96733	0.0:0.0:1.0:0.0	.	227;463	B4E205;O95486	.;SC24A_HUMAN	K	463	ENSP00000381823:E463K;ENSP00000321749:E463K	ENSP00000321749:E463K	E	+	1	0	SEC24A	134045967	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.701000	0.98710	2.701000	0.92244	0.563000	0.77884	GAA	SEC24A	-	pfam_Znf_Sec23_Sec24	ENSG00000113615		0.328	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC24A	HGNC	protein_coding	OTTHUMT00000371563.1	122	0.00	0	G			134018068	134018068	+1	no_errors	ENST00000398844	ensembl	human	known	69_37n	missense	60	31.03	27	SNP	1.000	A
SEC24A	10802	genome.wustl.edu	37	5	134039561	134039561	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:134039561G>A	ENST00000398844.2	+	16	2667	c.2379G>A	c.(2377-2379)gaG>gaA	p.E793E	RNU6-1164P_ENST00000364428.1_RNA	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	793					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)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAGTGGAAGAGAGTCTTACTG	0.393																																						dbGAP											0													130.0	122.0	125.0					5																	134039561		1863	4112	5975	-	-	-	SO:0001819	synonymous_variant	0			AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"""SEC24 (S. cerevisiae) related gene family, member A"", ""SEC24 family, member A (S. cerevisiae)"""			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.2379G>A	5.37:g.134039561G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MVW3|Q8WUV2|Q96GP7	Silent	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom	p.E793	ENST00000398844.2	37	c.2379	CCDS43363.1	5																																																																																			SEC24A	-	pfam_Sec23_24_beta_S	ENSG00000113615		0.393	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC24A	HGNC	protein_coding	OTTHUMT00000371563.1	105	0.00	0	G			134039561	134039561	+1	no_errors	ENST00000398844	ensembl	human	known	69_37n	silent	73	15.12	13	SNP	0.964	A
SEC24A	10802	genome.wustl.edu	37	5	134041088	134041088	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:134041088G>C	ENST00000398844.2	+	17	2800	c.2512G>C	c.(2512-2514)Gct>Cct	p.A838P		NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	838					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)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTTTCTTGGAGCTGATGTTCA	0.368																																						dbGAP											0													226.0	206.0	212.0					5																	134041088		1878	4117	5995	-	-	-	SO:0001583	missense	0			AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"""SEC24 (S. cerevisiae) related gene family, member A"", ""SEC24 family, member A (S. cerevisiae)"""			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.2512G>C	5.37:g.134041088G>C	ENSP00000381823:p.Ala838Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MVW3|Q8WUV2|Q96GP7	Missense_Mutation	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom	p.A838P	ENST00000398844.2	37	c.2512	CCDS43363.1	5	.	.	.	.	.	.	.	.	.	.	G	34	5.372391	0.95923	.	.	ENSG00000113615	ENST00000398844	T	0.50813	0.73	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.80071	0.4556	H	0.95151	3.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.84676	0.0714	10	0.72032	D	0.01	-21.1178	20.4561	0.99145	0.0:0.0:1.0:0.0	.	602;838	B4E205;O95486	.;SC24A_HUMAN	P	838	ENSP00000381823:A838P	ENSP00000381823:A838P	A	+	1	0	SEC24A	134068987	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.373000	0.97168	2.847000	0.97988	0.591000	0.81541	GCT	SEC24A	-	NULL	ENSG00000113615		0.368	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC24A	HGNC	protein_coding	OTTHUMT00000371563.1	253	0.39	1	G			134041088	134041088	+1	no_errors	ENST00000398844	ensembl	human	known	69_37n	missense	164	22.54	48	SNP	1.000	C
SEC24B	10427	genome.wustl.edu	37	4	110384067	110384067	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:110384067G>A	ENST00000265175.5	+	2	199	c.144G>A	c.(142-144)caG>caA	p.Q48Q	SEC24B_ENST00000399100.2_Silent_p.Q48Q|SEC24B_ENST00000504968.2_Silent_p.Q79Q	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	48					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)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		GTCCAGCCCAGAATCAAATGC	0.363																																						dbGAP											0													69.0	63.0	65.0					4																	110384067		1820	4082	5902	-	-	-	SO:0001819	synonymous_variant	0			AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"""SEC24 (S. cerevisiae) related gene family, member B"", ""SEC24 family, member B (S. cerevisiae)"""			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.144G>A	4.37:g.110384067G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZKM8|B7ZKN4|Q0VG08	Silent	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24	p.Q48	ENST00000265175.5	37	c.144	CCDS47124.1	4																																																																																			SEC24B	-	NULL	ENSG00000138802		0.363	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SEC24B	HGNC	protein_coding	OTTHUMT00000364693.2	36	0.00	0	G			110384067	110384067	+1	no_errors	ENST00000265175	ensembl	human	known	69_37n	silent	30	16.67	6	SNP	1.000	A
SEC24B	10427	genome.wustl.edu	37	4	110415770	110415770	+	Splice_Site	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:110415770G>T	ENST00000265175.5	+	6	1301		c.e6-1		SEC24B_ENST00000399100.2_Splice_Site|SEC24B_ENST00000504968.2_Splice_Site	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B						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)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		CCATTTTTTAGATATGCTTTC	0.473																																						dbGAP											0													93.0	102.0	99.0					4																	110415770		2078	4252	6330	-	-	-	SO:0001630	splice_region_variant	0			AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"""SEC24 (S. cerevisiae) related gene family, member B"", ""SEC24 family, member B (S. cerevisiae)"""			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.1247-1G>T	4.37:g.110415770G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZKM8|B7ZKN4|Q0VG08	Splice_Site	SNP	-	e6-1	ENST00000265175.5	37	c.1247-1	CCDS47124.1	4	.	.	.	.	.	.	.	.	.	.	G	16.90	3.250602	0.59212	.	.	ENSG00000138802	ENST00000504968;ENST00000399100;ENST00000265175	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.343	0.74311	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SEC24B	110635219	1.000000	0.71417	0.979000	0.43373	0.707000	0.40811	4.442000	0.59988	2.685000	0.91497	0.650000	0.86243	.	SEC24B	-	-	ENSG00000138802		0.473	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SEC24B	HGNC	protein_coding	OTTHUMT00000364693.2	106	0.00	0	G		Intron	110415770	110415770	+1	no_errors	ENST00000265175	ensembl	human	known	69_37n	splice_site	74	17.78	16	SNP	0.998	T
SEC61A1	29927	genome.wustl.edu	37	3	127783794	127783794	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:127783794C>T	ENST00000243253.3	+	8	875	c.691C>T	c.(691-693)Cgg>Tgg	p.R231W	SEC61A1_ENST00000464451.1_Missense_Mutation_p.R237W|SEC61A1_ENST00000483956.1_Intron|RUVBL1_ENST00000464873.1_3'UTR|SEC61A1_ENST00000424880.2_Missense_Mutation_p.R111W	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	231					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)|cell growth (GO:0016049)|endoplasmic reticulum organization (GO:0007029)|posttranslational protein targeting to membrane (GO:0006620)|protein targeting to ER (GO:0045047)|response to interferon-gamma (GO:0034341)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						CCGAGCCCTTCGGGAGGCGTT	0.507																																						dbGAP											0													132.0	126.0	128.0					3																	127783794		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF077032	CCDS3046.1	3q21.3	2008-02-05			ENSG00000058262	ENSG00000058262			18276	protein-coding gene	gene with protein product		609213					Standard	NM_013336		Approved		uc003ekb.3	P61619	OTTHUMG00000159624	ENST00000243253.3:c.691C>T	3.37:g.127783794C>T	ENSP00000243253:p.Arg231Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	P38378|P57726|Q5JPF8|Q8N0Z4|Q8N3U3|Q8NC71|Q9BU16|Q9Y2R3	Missense_Mutation	SNP	pfam_SecY,pfam_Translocon_Sec61/SecY_plug_dom,superfamily_SecY_su_dom,pirsf_SecY,tigrfam_SecY	p.R231W	ENST00000243253.3	37	c.691	CCDS3046.1	3	.	.	.	.	.	.	.	.	.	.	C	11.68	1.709807	0.30322	.	.	ENSG00000058262	ENST00000464451;ENST00000243253;ENST00000424880	.	.	.	5.6	1.74	0.24563	SecY subunit domain (2);	0.000000	0.85682	D	0.000000	T	0.67711	0.2922	M	0.76170	2.325	0.80722	D	1	D	0.69078	0.997	D	0.66196	0.942	T	0.63346	-0.6658	9	0.37606	T	0.19	.	6.8203	0.23852	0.4584:0.4123:0.0:0.1293	.	231	P61619	S61A1_HUMAN	W	237;231;111	.	ENSP00000243253:R231W	R	+	1	2	SEC61A1	129266484	0.624000	0.27102	0.007000	0.13788	0.015000	0.08874	1.194000	0.32174	0.301000	0.22738	-0.878000	0.02970	CGG	SEC61A1	-	pfam_SecY,superfamily_SecY_su_dom,pirsf_SecY,tigrfam_SecY	ENSG00000058262		0.507	SEC61A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC61A1	HGNC	protein_coding	OTTHUMT00000356541.2	120	0.00	0	C	NM_013336		127783794	127783794	+1	no_errors	ENST00000243253	ensembl	human	known	69_37n	missense	117	16.43	23	SNP	0.075	T
SEC61A2	55176	genome.wustl.edu	37	10	12191594	12191594	+	Splice_Site	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:12191594G>A	ENST00000298428.9	+	5	310	c.221G>A	c.(220-222)gGa>gAa	p.G74E	SEC61A2_ENST00000379017.3_Splice_Site_p.G74E|SEC61A2_ENST00000379051.1_Splice_Site_p.G74E|SEC61A2_ENST00000379033.3_Splice_Site_p.G52E|SEC61A2_ENST00000304267.8_Splice_Site_p.G74E|SEC61A2_ENST00000379020.4_Splice_Site_p.G74E|SEC61A2_ENST00000495368.1_3'UTR	NM_018144.3	NP_060614.2	Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)	74					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)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ribosome binding (GO:0043022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				TCCTTTCCAGGAACTTTAATG	0.418																																						dbGAP											0													126.0	118.0	121.0					10																	12191594		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF346603	CCDS7088.1, CCDS44358.1, CCDS44359.1	10p14	2004-01-06			ENSG00000065665	ENSG00000065665			17702	protein-coding gene	gene with protein product							Standard	NM_018144		Approved	FLJ10578	uc001ile.2	Q9H9S3	OTTHUMG00000017679	ENST00000298428.9:c.221-1G>A	10.37:g.12191594G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8D0|B4DX72|F8W773	Missense_Mutation	SNP	pfam_SecY,pfam_Translocon_Sec61/SecY_plug_dom,superfamily_SecY_su_dom,pirsf_SecY,tigrfam_SecY	p.G74E	ENST00000298428.9	37	c.221	CCDS7088.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.0|23.0	4.368387|4.368387	0.82463|0.82463	.|.	.|.	ENSG00000065665|ENSG00000065665	ENST00000457034|ENST00000379051;ENST00000379033;ENST00000441368;ENST00000298428;ENST00000304267;ENST00000379020;ENST00000379017	.|.	.|.	.|.	5.58|5.58	4.64|4.64	0.57946|0.57946	.|Translocon Sec61/SecY, plug domain (1);SecY subunit domain (2);	.|0.000000	.|0.64402	.|D	.|0.000015	D|D	0.83672|0.83672	0.5305|0.5305	M|M	0.88906|0.88906	2.99|2.99	0.80722|0.80722	D|D	1|1	.|D;D;P	.|0.67145	.|0.968;0.996;0.677	.|D;D;P	.|0.74674	.|0.965;0.984;0.887	D|D	0.86301|0.86301	0.1680|0.1680	5|8	.|.	.|.	.|.	.|.	15.6383|15.6383	0.76973|0.76973	0.0:0.1368:0.8632:0.0|0.0:0.1368:0.8632:0.0	.|.	.|52;74;74	.|F8W773;Q9H9S3-2;Q9H9S3	.|.;.;S61A2_HUMAN	K|E	48|74;52;74;74;74;74;74	.|.	.|.	E|G	+|+	1|2	0|0	SEC61A2|SEC61A2	12231600|12231600	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.852000|0.852000	0.48524|0.48524	7.970000|7.970000	0.88000|0.88000	2.616000|2.616000	0.88540|0.88540	0.467000|0.467000	0.42956|0.42956	GAA|GGA	SEC61A2	-	pfam_Translocon_Sec61/SecY_plug_dom,superfamily_SecY_su_dom,pirsf_SecY,tigrfam_SecY	ENSG00000065665		0.418	SEC61A2-009	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC61A2	HGNC	protein_coding	OTTHUMT00000046795.1	75	0.00	0	G	NM_018144	Missense_Mutation	12191594	12191594	+1	no_errors	ENST00000298428	ensembl	human	known	69_37n	missense	62	19.48	15	SNP	1.000	A
SEC63	11231	genome.wustl.edu	37	6	108197773	108197773	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:108197773C>T	ENST00000369002.4	-	19	2208	c.2029G>A	c.(2029-2031)Gag>Aag	p.E677K		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	677	SEC63 2.				liver development (GO:0001889)|multicellular organismal aging (GO:0010259)|nitrogen compound metabolic process (GO:0006807)|posttranslational protein targeting to membrane (GO:0006620)|posttranslational protein targeting to membrane, translocation (GO:0031204)|protein targeting to membrane (GO:0006612)|renal system development (GO:0072001)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		GTTACCTCCTCTGTATCTTTC	0.368																																						dbGAP											0													267.0	217.0	234.0					6																	108197773		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796		"""Heat shock proteins / DNAJ (HSP40)"""	21082	protein-coding gene	gene with protein product		608648	"""SEC63-like (S. cerevisiae)"""			10219736, 10543453	Standard	NM_007214		Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.2029G>A	6.37:g.108197773C>T	ENSP00000357998:p.Glu677Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Missense_Mutation	SNP	pfam_Sec63-dom,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_ARM-type_fold,smart_DnaJ_N,smart_Sec63-dom,prints_Hsp_DnaJ,pfscan_DnaJ_N	p.E677K	ENST00000369002.4	37	c.2029	CCDS5061.1	6	.	.	.	.	.	.	.	.	.	.	C	29.5	5.007716	0.93287	.	.	ENSG00000025796	ENST00000369002;ENST00000437345	T	0.54675	0.56	4.9	4.9	0.64082	Sec63 domain (2);	0.000000	0.85682	D	0.000000	T	0.48892	0.1525	L	0.60845	1.875	0.80722	D	1	P	0.51057	0.941	P	0.48227	0.571	T	0.48801	-0.9003	10	0.39692	T	0.17	-20.1961	18.4491	0.90696	0.0:1.0:0.0:0.0	.	677	Q9UGP8	SEC63_HUMAN	K	677;295	ENSP00000357998:E677K	ENSP00000357998:E677K	E	-	1	0	SEC63	108304466	1.000000	0.71417	0.999000	0.59377	0.861000	0.49209	7.240000	0.78192	2.441000	0.82636	0.655000	0.94253	GAG	SEC63	-	pfam_Sec63-dom,smart_Sec63-dom	ENSG00000025796		0.368	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC63	HGNC	protein_coding	OTTHUMT00000041705.4	183	0.00	0	C	NM_007214		108197773	108197773	-1	no_errors	ENST00000369002	ensembl	human	known	69_37n	missense	158	22.17	45	SNP	1.000	T
SEH1L	81929	genome.wustl.edu	37	18	12971224	12971224	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr18:12971224G>C	ENST00000262124.11	+	5	721	c.594G>C	c.(592-594)caG>caC	p.Q198H	SEH1L_ENST00000399892.2_Missense_Mutation_p.Q198H	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)	198					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|carbohydrate metabolic process (GO:0005975)|cytokine production involved in inflammatory response (GO:0002534)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-positive bacterium (GO:0050830)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore organization (GO:0006999)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						CCAAGGTTCAGATTTTTGAAT	0.373																																						dbGAP											0													108.0	104.0	105.0					18																	12971224		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC012430	CCDS32791.1, CCDS45832.1	18p11.21	2013-01-10				ENSG00000085415		"""WD repeat domain containing"""	30379	protein-coding gene	gene with protein product	"""sec13 like protein"", ""nucleoporin Seh1"""	609263				12196509, 14517296	Standard	XM_005258152		Approved	SEH1A, SEH1B, Seh1, SEC13L	uc002krq.3	Q96EE3		ENST00000262124.11:c.594G>C	18.37:g.12971224G>C	ENSP00000262124:p.Gln198His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5B1|Q8NFU6|Q96MH3|Q9C069	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q198H	ENST00000262124.11	37	c.594	CCDS45832.1	18	.	.	.	.	.	.	.	.	.	.	G	10.64	1.407302	0.25378	.	.	ENSG00000085415	ENST00000399892;ENST00000262124	T;T	0.65549	-0.16;-0.16	5.76	4.89	0.63831	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.49287	0.1548	L	0.33485	1.01	0.54753	D	0.999989	B;B	0.24576	0.009;0.106	B;B	0.24269	0.005;0.052	T	0.41980	-0.9478	10	0.27082	T	0.32	-9.8432	11.2839	0.49210	0.1566:0.0:0.8434:0.0	.	198;198	Q96EE3;Q96EE3-1	SEH1_HUMAN;.	H	198	ENSP00000382779:Q198H;ENSP00000262124:Q198H	ENSP00000262124:Q198H	Q	+	3	2	SEH1L	12961224	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.696000	0.54757	1.436000	0.47453	0.563000	0.77884	CAG	SEH1L	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000085415		0.373	SEH1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEH1L	HGNC	protein_coding	OTTHUMT00000458254.1	125	0.00	0	G	NM_031216		12971224	12971224	+1	no_errors	ENST00000399892	ensembl	human	known	69_37n	missense	68	26.88	25	SNP	1.000	C
SEL1L3	23231	genome.wustl.edu	37	4	25780709	25780709	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:25780709C>G	ENST00000399878.3	-	16	2696	c.2574G>C	c.(2572-2574)gaG>gaC	p.E858D	SEL1L3_ENST00000502949.1_Missense_Mutation_p.E705D|SEL1L3_ENST00000264868.5_Missense_Mutation_p.E823D	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	858						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						CAACAGCTTTCTCAGGATCTC	0.428																																						dbGAP											0													127.0	119.0	121.0					4																	25780709		1954	4150	6104	-	-	-	SO:0001583	missense	0			BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"""KIAA0746 protein"""					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.2574G>C	4.37:g.25780709C>G	ENSP00000382767:p.Glu858Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Missense_Mutation	SNP	pfam_Sel1-like,superfamily_ConA-like_lec_gl,smart_Sel1-like	p.E858D	ENST00000399878.3	37	c.2574	CCDS47037.1	4	.	.	.	.	.	.	.	.	.	.	C	12.72	2.022152	0.35701	.	.	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949;ENST00000514321	T;T;T;T	0.53857	0.63;0.63;0.63;0.6	5.22	5.22	0.72569	Tetratricopeptide-like helical (1);	0.110177	0.64402	D	0.000012	T	0.35653	0.0939	L	0.29908	0.895	0.34230	D	0.676365	P;P	0.45078	0.487;0.85	B;B	0.38020	0.093;0.263	T	0.49312	-0.8953	10	0.27082	T	0.32	-20.8183	9.233	0.37448	0.0:0.8322:0.0:0.1678	.	265;858	B4DTH5;Q68CR1	.;SE1L3_HUMAN	D	858;823;705;39	ENSP00000382767:E858D;ENSP00000264868:E823D;ENSP00000425438:E705D;ENSP00000424564:E39D	ENSP00000264868:E823D	E	-	3	2	SEL1L3	25389807	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	2.332000	0.43903	2.429000	0.82318	0.561000	0.74099	GAG	SEL1L3	-	pfam_Sel1-like,smart_Sel1-like	ENSG00000091490		0.428	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SEL1L3	HGNC	protein_coding	OTTHUMT00000360261.1	102	0.00	0	C	NM_015187		25780709	25780709	-1	no_errors	ENST00000399878	ensembl	human	known	69_37n	missense	49	34.67	26	SNP	1.000	G
SEL1L3	23231	genome.wustl.edu	37	4	25806331	25806331	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:25806331C>T	ENST00000399878.3	-	10	1730	c.1608G>A	c.(1606-1608)aaG>aaA	p.K536K	SEL1L3_ENST00000502949.1_Silent_p.K383K|SEL1L3_ENST00000264868.5_Silent_p.K501K	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	536						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						TCTCAAATATCTTCCCACCGA	0.428																																						dbGAP											0													111.0	106.0	107.0					4																	25806331		1865	4110	5975	-	-	-	SO:0001819	synonymous_variant	0			BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"""KIAA0746 protein"""					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.1608G>A	4.37:g.25806331C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Silent	SNP	pfam_Sel1-like,superfamily_ConA-like_lec_gl,smart_Sel1-like	p.K536	ENST00000399878.3	37	c.1608	CCDS47037.1	4																																																																																			SEL1L3	-	NULL	ENSG00000091490		0.428	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SEL1L3	HGNC	protein_coding	OTTHUMT00000360261.1	136	0.00	0	C	NM_015187		25806331	25806331	-1	no_errors	ENST00000399878	ensembl	human	known	69_37n	silent	107	22.46	31	SNP	1.000	T
SELK	58515	genome.wustl.edu	37	3	53925802	53925802	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:53925802G>C	ENST00000495461.1	-	1	213	c.14C>G	c.(13-15)tCg>tGg	p.S5W	SELK_ENST00000541726.1_Missense_Mutation_p.S5W|SELK_ENST00000485414.1_5'UTR			Q9Y6D0	SELK_HUMAN		5					calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|macrophage derived foam cell differentiation (GO:0010742)|positive regulation of T cell migration (GO:2000406)|positive regulation of T cell proliferation (GO:0042102)|protein palmitoylation (GO:0018345)|regulation of protein transport (GO:0051223)|respiratory burst after phagocytosis (GO:0045728)|response to oxidative stress (GO:0006979)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)									BRCA - Breast invasive adenocarcinoma(193;0.000146)|KIRC - Kidney renal clear cell carcinoma(284;0.00549)|Kidney(284;0.00619)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		CTTACCGTTCGAGATGTAAAC	0.607																																						dbGAP											0													81.0	89.0	87.0					3																	53925802		1984	4153	6137	-	-	-	SO:0001583	missense	0																														ENST00000495461.1:c.14C>G	3.37:g.53925802G>C	ENSP00000418813:p.Ser5Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IZQ3|Q9P085	Missense_Mutation	SNP	pfam_Se_SelK/SelG	p.S5W	ENST00000495461.1	37	c.14	CCDS54597.1	3	.	.	.	.	.	.	.	.	.	.	G	24.0	4.481008	0.84747	.	.	ENSG00000113811	ENST00000495461;ENST00000541726	T;T	0.52526	0.66;0.66	4.43	4.43	0.53597	.	0.058277	0.64402	D	0.000001	T	0.62636	0.2444	.	.	.	0.80722	D	1	D	0.61697	0.99	P	0.57911	0.829	T	0.67133	-0.5747	9	0.87932	D	0	-0.4266	15.0003	0.71466	0.0:0.0:1.0:0.0	.	5	Q9Y6D0	SELK_HUMAN	W	5	ENSP00000418813:S5W;ENSP00000443164:S5W	ENSP00000417272:S5W	S	-	2	0	RP11-884K10.5	53900842	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	4.946000	0.63576	2.746000	0.94184	0.591000	0.81541	TCG	RP11-884K10.5	-	pfam_Se_SelK/SelG	ENSG00000113811		0.607	SELK-001	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	SELK	Clone_based_vega_gene	protein_coding	OTTHUMT00000351659.1	97	0.00	0	G			53925802	53925802	-1	no_errors	ENST00000541726	ensembl	human	known	69_37n	missense	62	20.51	16	SNP	1.000	C
SELP	6403	genome.wustl.edu	37	1	169582887	169582887	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:169582887C>G	ENST00000263686.6	-	4	563	c.526G>C	c.(526-528)Gag>Cag	p.E176Q	SELP_ENST00000367794.2_Missense_Mutation_p.E176Q|SELP_ENST00000367793.2_Missense_Mutation_p.E176Q|SELP_ENST00000367786.2_Missense_Mutation_p.E176Q|SELP_ENST00000367791.2_Missense_Mutation_p.E176Q|SELP_ENST00000367788.2_Missense_Mutation_p.E176Q|SELP_ENST00000367792.2_Missense_Mutation_p.E176Q|SELP_ENST00000458599.2_Missense_Mutation_p.E176Q	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	176	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	CCGATGGTCTCGAGGCACTCT	0.473																																						dbGAP											0													131.0	114.0	120.0					1																	169582887		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.526G>C	1.37:g.169582887C>G	ENSP00000263686:p.Glu176Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5R344|Q8IVD1	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily	p.E176Q	ENST00000263686.6	37	c.526	CCDS1282.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.8|22.8	4.342948|4.342948	0.82022|0.82022	.|.	.|.	ENSG00000174175|ENSG00000174175	ENST00000367795;ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000544572;ENST00000367793;ENST00000367794;ENST00000367792;ENST00000367791;ENST00000367788;ENST00000367786;ENST00000458599|ENST00000446728	T;T;T;T;T;T;T|.	0.44083|.	0.93;0.93;0.93;0.93;0.93;0.93;0.93|.	5.14|5.14	5.14|5.14	0.70334|0.70334	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);|.	0.234701|.	0.30020|.	N|.	0.010618|.	T|T	0.58409|0.58409	0.2120|0.2120	M|M	0.65975|0.65975	2.015|2.015	0.46298|0.46298	D|D	0.998972|0.998972	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.988;0.995;1.0|.	T|T	0.57112|0.57112	-0.7867|-0.7867	10|5	0.59425|.	D|.	0.04|.	-31.0744|-31.0744	11.9756|11.9756	0.53089|0.53089	0.0:0.9163:0.0:0.0837|0.0:0.9163:0.0:0.0837	.|.	176;176;176|.	Q6NUL9;P16109;G3V1U2|.	.;LYAM3_HUMAN;.|.	Q|P	176;176;175;176;176;176;176;176;176;176;176;176;161|175	ENSP00000263686:E176Q;ENSP00000356767:E176Q;ENSP00000356768:E176Q;ENSP00000356766:E176Q;ENSP00000356765:E176Q;ENSP00000356762:E176Q;ENSP00000356760:E176Q|.	ENSP00000263686:E176Q|.	E|R	-|-	1|2	0|0	SELP|SELP	167849511|167849511	1.000000|1.000000	0.71417|0.71417	0.969000|0.969000	0.41365|0.41365	0.946000|0.946000	0.59487|0.59487	6.961000|6.961000	0.76042|0.76042	2.828000|2.828000	0.97474|0.97474	0.655000|0.655000	0.94253|0.94253	GAG|CGA	SELP	-	pfscan_EG-like_dom	ENSG00000174175		0.473	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SELP	HGNC	protein_coding	OTTHUMT00000083916.4	66	0.00	0	C	NM_003005		169582887	169582887	-1	no_errors	ENST00000263686	ensembl	human	known	69_37n	missense	95	16.67	19	SNP	0.996	G
SELP	6403	genome.wustl.edu	37	1	169588399	169588399	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:169588399G>A	ENST00000263686.6	-	2	99	c.62C>T	c.(61-63)tCc>tTc	p.S21F	SELP_ENST00000367794.2_Missense_Mutation_p.S21F|SELP_ENST00000367793.2_Missense_Mutation_p.S21F|SELP_ENST00000367786.2_Missense_Mutation_p.S21F|SELP_ENST00000367791.2_Missense_Mutation_p.S21F|SELP_ENST00000367788.2_Missense_Mutation_p.S21F|SELP_ENST00000367792.2_Missense_Mutation_p.S21F|SELP_ENST00000458599.2_Missense_Mutation_p.S21F	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	21					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	AAGGAGTTGGGAAATTCCAAA	0.418																																						dbGAP											0													94.0	93.0	93.0					1																	169588399		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.62C>T	1.37:g.169588399G>A	ENSP00000263686:p.Ser21Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5R344|Q8IVD1	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily	p.S21F	ENST00000263686.6	37	c.62	CCDS1282.1	1	.	.	.	.	.	.	.	.	.	.	G	3.691	-0.063468	0.07273	.	.	ENSG00000174175	ENST00000367795;ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000544572;ENST00000367793;ENST00000367794;ENST00000367792;ENST00000367791;ENST00000367788;ENST00000367786;ENST00000458599	T;T;T;T;T;T;T	0.26373	2.25;2.06;1.78;1.74;1.95;2.06;1.78	4.31	0.41	0.16387	.	0.814061	0.10547	N	0.661941	T	0.04724	0.0128	N	0.14661	0.345	0.09310	N	1	B;B	0.22346	0.068;0.0	B;B	0.19148	0.024;0.001	T	0.40365	-0.9567	10	0.54805	T	0.06	-0.9423	6.5815	0.22596	0.3909:0.0:0.6091:0.0	.	21;21	Q6NUL9;P16109	.;LYAM3_HUMAN	F	21;21;20;21;21;21;21;21;21;21;21;21;6	ENSP00000263686:S21F;ENSP00000356767:S21F;ENSP00000356768:S21F;ENSP00000356766:S21F;ENSP00000356765:S21F;ENSP00000356762:S21F;ENSP00000356760:S21F	ENSP00000263686:S21F	S	-	2	0	SELP	167855023	0.007000	0.16637	0.000000	0.03702	0.010000	0.07245	0.417000	0.21214	0.081000	0.16988	0.655000	0.94253	TCC	SELP	-	NULL	ENSG00000174175		0.418	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SELP	HGNC	protein_coding	OTTHUMT00000083916.4	108	0.00	0	G	NM_003005		169588399	169588399	-1	no_errors	ENST00000263686	ensembl	human	known	69_37n	missense	117	13.97	19	SNP	0.000	A
SEMA3C	10512	genome.wustl.edu	37	7	80439931	80439931	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:80439931C>T	ENST00000265361.3	-	6	1095	c.534G>A	c.(532-534)atG>atA	p.M178I	SEMA3C_ENST00000544525.1_Missense_Mutation_p.M196I|SEMA3C_ENST00000419255.2_Missense_Mutation_p.M178I|SEMA3C_ENST00000536800.1_Missense_Mutation_p.M30I	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	178	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ACTTACTGATCATAACAGACA	0.383																																						dbGAP											0													155.0	141.0	146.0					7																	80439931		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"""Semaphorins"", ""Immunoglobulin superfamily / I-set domain containing"""	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.534G>A	7.37:g.80439931C>T	ENSP00000265361:p.Met178Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DRL8	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Ig_I-set,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like	p.M196I	ENST00000265361.3	37	c.588	CCDS5596.1	7	.	.	.	.	.	.	.	.	.	.	C	23.0	4.367438	0.82463	.	.	ENSG00000075223	ENST00000265361;ENST00000419255;ENST00000544525;ENST00000536800	T;T;T;T	0.09817	2.94;2.94;2.94;2.94	5.39	5.39	0.77823	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.15176	0.0366	L	0.39245	1.2	0.80722	D	1	B;B;B	0.28258	0.014;0.171;0.205	B;B;B	0.35971	0.012;0.137;0.215	T	0.05257	-1.0896	10	0.40728	T	0.16	.	19.5203	0.95182	0.0:1.0:0.0:0.0	.	30;196;178	B4DRL8;F5H1Z7;Q99985	.;.;SEM3C_HUMAN	I	178;178;196;30	ENSP00000265361:M178I;ENSP00000411193:M178I;ENSP00000445649:M196I;ENSP00000438258:M30I	ENSP00000265361:M178I	M	-	3	0	SEMA3C	80277867	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.226000	0.78060	2.678000	0.91216	0.655000	0.94253	ATG	SEMA3C	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag	ENSG00000075223		0.383	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3C	HGNC	protein_coding	OTTHUMT00000253279.1	149	0.00	0	C	NM_006379		80439931	80439931	-1	no_errors	ENST00000544525	ensembl	human	known	69_37n	missense	67	48.06	62	SNP	1.000	T
SEMA3F	6405	genome.wustl.edu	37	3	50220387	50220387	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:50220387G>A	ENST00000002829.3	+	10	1438	c.954G>A	c.(952-954)ctG>ctA	p.L318L	SEMA3F_ENST00000434342.1_Silent_p.L287L|SEMA3F_ENST00000413852.1_Silent_p.L219L	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	318	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|negative regulation of axon extension involved in axon guidance (GO:0048843)|nerve development (GO:0021675)|neural crest cell migration (GO:0001755)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	extracellular space (GO:0005615)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|receptor activity (GO:0004872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		GCACATTCCTGAAGGCGCGGC	0.617																																						dbGAP											0													64.0	63.0	63.0					3																	50220387		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U33920	CCDS2811.1	3p21.3	2013-01-11			ENSG00000001617	ENSG00000001617		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10728	protein-coding gene	gene with protein product	"""sema IV"""	601124				8786119, 8649831	Standard	NM_004186		Approved	SEMAK, Sema4	uc003cyj.3	Q13275	OTTHUMG00000156806	ENST00000002829.3:c.954G>A	3.37:g.50220387G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JQ85|Q13274|Q13372|Q15704|Q6GTR4	Silent	SNP	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,smart_Ig_sub2,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like	p.L318	ENST00000002829.3	37	c.954	CCDS2811.1	3																																																																																			SEMA3F	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag	ENSG00000001617		0.617	SEMA3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3F	HGNC	protein_coding	OTTHUMT00000345929.1	47	0.00	0	G	NM_004186		50220387	50220387	+1	no_errors	ENST00000002829	ensembl	human	known	69_37n	silent	69	17.86	15	SNP	1.000	A
SEMA4B	10509	genome.wustl.edu	37	15	90760783	90760783	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:90760783C>G	ENST00000411539.2	+	2	530	c.270C>G	c.(268-270)ctC>ctG	p.L90L	SEMA4B_ENST00000332496.6_Silent_p.L90L|SEMA4B_ENST00000379122.3_Silent_p.L85L	NM_198925.2	NP_945119.1	Q9NPR2	SEM4B_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B	85	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)|synapse (GO:0045202)	receptor activity (GO:0004872)			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			GAGAGGCCCTCTTTGCACTCA	0.592																																						dbGAP											0													60.0	59.0	59.0					15																	90760783		1987	4177	6164	-	-	-	SO:0001819	synonymous_variant	0			AB051532	CCDS45347.1	15q25	2008-07-18						"""Semaphorins"""	10730	protein-coding gene	gene with protein product				SEMAC		7748561	Standard	NM_020210		Approved	SemC, KIAA1745, MGC131831	uc002boz.3	Q9NPR2		ENST00000411539.2:c.270C>G	15.37:g.90760783C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UXE3|Q8WVP9|Q96FK5|Q9C0B8|Q9H691|Q9NPM8|Q9NPN0	Missense_Mutation	SNP	NULL	p.S13C	ENST00000411539.2	37	c.38	CCDS45347.1	15																																																																																			SEMA4B	-	NULL	ENSG00000185033		0.592	SEMA4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA4B	HGNC	protein_coding	OTTHUMT00000416810.1	53	0.00	0	C	NM_198925		90760783	90760783	+1	no_errors	ENST00000559300	ensembl	human	known	69_37n	missense	50	24.24	16	SNP	1.000	G
SEMA4G	57715	genome.wustl.edu	37	10	102738999	102738999	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:102738999C>G	ENST00000370250.4	+	8	1327	c.954C>G	c.(952-954)ttC>ttG	p.F318L	SEMA4G_ENST00000519756.1_3'UTR|MRPL43_ENST00000370241.3_Intron|MRPL43_ENST00000370242.4_Nonstop_Mutation_p.*262Y|RP11-108L7.4_ENST00000447344.1_RNA|SEMA4G_ENST00000517724.1_Missense_Mutation_p.F318L|SEMA4G_ENST00000210633.3_Missense_Mutation_p.F318L|MRPL43_ENST00000318325.2_3'UTR	NM_017893.3	NP_060363.2	Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	318	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(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		GTACACACTTCTATGCAGCCT	0.557																																						dbGAP											0													113.0	92.0	99.0					10																	102738999		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB046839	CCDS7501.1, CCDS55724.1	10q24.31	2013-01-11			ENSG00000095539	ENSG00000095539		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10735	protein-coding gene	gene with protein product							Standard	NM_017893		Approved	FLJ20590, KIAA1619	uc001krw.2	Q9NTN9	OTTHUMG00000018922	ENST00000370250.4:c.954C>G	10.37:g.102738999C>G	ENSP00000359270:p.Phe318Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A5C6|A6NJY8|Q58EY1|Q9HCF3	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like	p.F318L	ENST00000370250.4	37	c.954		10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	26.8|26.8	4.775931|4.775931	0.90195|0.90195	.|.	.|.	ENSG00000095539|ENSG00000055950	ENST00000519649;ENST00000457585;ENST00000370250;ENST00000517724;ENST00000210633|ENST00000370242	T;T;T;T|.	0.24908|.	1.83;1.83;1.83;1.83|.	5.82|5.82	4.91|4.91	0.64330|0.64330	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.63757|.	0.2538|.	L|L	0.54863|0.54863	1.705|1.705	0.58432|0.58432	D|D	0.999993|0.999993	D;D;D|.	0.89917|.	1.0;1.0;0.984|.	D;D;P|.	0.97110|.	0.999;1.0;0.907|.	T|.	0.60021|.	-0.7344|.	10|.	0.34782|.	T|.	0.22|.	.|.	13.4485|13.4485	0.61155|0.61155	0.0:0.9252:0.0:0.0748|0.0:0.9252:0.0:0.0748	.|.	318;318;318|.	Q9NTN9;A1A5C6;Q9NTN9-2|.	SEM4G_HUMAN;.;.|.	L|Y	318|262	ENSP00000428896:F318L;ENSP00000359270:F318L;ENSP00000430175:F318L;ENSP00000210633:F318L|.	ENSP00000210633:F318L|.	F|X	+|-	3|3	2|2	SEMA4G|MRPL43	102728989|102728989	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	1.738000|1.738000	0.38207|0.38207	2.770000|2.770000	0.95276|0.95276	0.479000|0.479000	0.44913|0.44913	TTC|TAG	SEMA4G	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag	ENSG00000095539		0.557	SEMA4G-002	KNOWN	basic	protein_coding	SEMA4G	HGNC	protein_coding	OTTHUMT00000049920.2	37	0.00	0	C			102738999	102738999	+1	no_errors	ENST00000210633	ensembl	human	known	69_37n	missense	28	24.32	9	SNP	1.000	G
SEMA5B	54437	genome.wustl.edu	37	3	122634667	122634667	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:122634667C>G	ENST00000357599.3	-	13	2145	c.1759G>C	c.(1759-1761)Gac>Cac	p.D587H	SEMA5B_ENST00000451055.2_Missense_Mutation_p.D641H|SEMA5B_ENST00000195173.4_Missense_Mutation_p.D587H	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	587					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		TTGGAGCTGTCCTCGAGTGTG	0.602																																						dbGAP											0													142.0	134.0	137.0					3																	122634667		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.1759G>C	3.37:g.122634667C>G	ENSP00000350215:p.Asp587His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Thrombospondin_1_rpt,superfamily_Semaphorin/CD100_Ag,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Thrombospondin_1_rpt,pfscan_Semaphorin/CD100_Ag,pfscan_Thrombospondin_1_rpt	p.D641H	ENST00000357599.3	37	c.1921	CCDS35491.1	3	.	.	.	.	.	.	.	.	.	.	C	24.7	4.564717	0.86439	.	.	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	T;T;T;T	0.23950	1.88;1.88;1.88;1.88	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.54431	0.1858	M	0.85197	2.74	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.999	D;D;D	0.75484	0.965;0.986;0.986	T	0.61903	-0.6967	10	0.72032	D	0.01	.	14.3689	0.66826	0.0:1.0:0.0:0.0	.	529;587;587	D3YTI7;B5ME80;Q9P283	.;.;SEM5B_HUMAN	H	587;587;529;641;587	ENSP00000350215:D587H;ENSP00000195173:D587H;ENSP00000389588:D641H;ENSP00000377208:D587H	ENSP00000195173:D587H	D	-	1	0	SEMA5B	124117357	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.228000	0.65310	2.404000	0.81709	0.561000	0.74099	GAC	SEMA5B	-	superfamily_Plexin-like_fold,smart_Plexin-like	ENSG00000082684		0.602	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	SEMA5B	HGNC	protein_coding	OTTHUMT00000277165.1	112	0.00	0	C	NM_001031702		122634667	122634667	-1	no_errors	ENST00000451055	ensembl	human	known	69_37n	missense	115	16.67	23	SNP	1.000	G
SEMA6C	10500	genome.wustl.edu	37	1	151107641	151107641	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:151107641C>G	ENST00000341697.3	-	15	3269	c.1578G>C	c.(1576-1578)caG>caC	p.Q526H	SEMA6C_ENST00000479820.1_5'Flank			Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	526					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCTCTCACCTCTGACAGGCCC	0.617																																						dbGAP											0													65.0	69.0	68.0					1																	151107641		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"""Semaphorins"""	10740	protein-coding gene	gene with protein product	"""m-Sema Y2"""	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.1578G>C	1.37:g.151107641C>G	ENSP00000344148:p.Gln526His	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Missense_Mutation	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.Q526H	ENST00000341697.3	37	c.1578	CCDS984.1	1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.557104	0.45590	.	.	ENSG00000143434	ENST00000368914;ENST00000368912;ENST00000368913;ENST00000341697	T;T;T;T	0.22134	1.97;1.97;1.97;1.97	4.82	1.23	0.21249	.	0.506167	0.20307	N	0.094906	T	0.07638	0.0192	L	0.43152	1.355	0.32818	D	0.502312	B;P;B;P	0.37612	0.012;0.547;0.006;0.602	B;B;B;B	0.41299	0.043;0.346;0.016;0.353	T	0.15607	-1.0431	10	0.46703	T	0.11	.	4.8325	0.13447	0.0:0.5141:0.1903:0.2955	.	526;486;526;526	B4DZD4;Q9H3T2-2;Q9H3T2-3;Q9H3T2	.;.;.;SEM6C_HUMAN	H	526;486;526;526	ENSP00000357910:Q526H;ENSP00000357908:Q486H;ENSP00000357909:Q526H;ENSP00000344148:Q526H	ENSP00000344148:Q526H	Q	-	3	2	SEMA6C	149374265	0.000000	0.05858	0.989000	0.46669	0.993000	0.82548	-0.751000	0.04803	0.217000	0.20800	0.561000	0.74099	CAG	SEMA6C	-	pfam_Plexin_repeat,superfamily_Plexin-like_fold	ENSG00000143434		0.617	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	SEMA6C	HGNC	protein_coding	OTTHUMT00000034074.1	67	0.00	0	C	NM_030913		151107641	151107641	-1	no_errors	ENST00000368913	ensembl	human	known	69_37n	missense	67	22.09	19	SNP	0.697	G
SENP2	59343	genome.wustl.edu	37	3	185304285	185304285	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:185304285G>A	ENST00000296257.5	+	1	324	c.84G>A	c.(82-84)aaG>aaA	p.K28K	SENP2_ENST00000545472.1_Intron|SENP2_ENST00000427465.2_5'UTR|SENP2_ENST00000465201.1_Intron	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	28					cellular protein metabolic process (GO:0044267)|dorsal/ventral axis specification (GO:0009950)|heart development (GO:0007507)|labyrinthine layer development (GO:0060711)|mRNA transport (GO:0051028)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein binding (GO:0032091)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|protein transport (GO:0015031)|regulation of DNA endoreduplication (GO:0032875)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of Wnt signaling pathway (GO:0030111)|spongiotrophoblast layer development (GO:0060712)|trophoblast giant cell differentiation (GO:0060707)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	SUMO-specific protease activity (GO:0016929)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CCCTCCTGAAGAGGCGGCGCT	0.642																																						dbGAP											0													53.0	58.0	56.0					3																	185304285		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF151697	CCDS33902.1	3q28	2005-08-17	2005-08-17		ENSG00000163904	ENSG00000163904			23116	protein-coding gene	gene with protein product		608261	"""SUMO1/sentrin/SMT3 specific protease 2"""			11896061, 11489887	Standard	XM_005247690		Approved	SMT3IP2, KIAA1331, DKFZp762A2316, AXAM2	uc003fpn.3	Q9HC62	OTTHUMG00000156658	ENST00000296257.5:c.84G>A	3.37:g.185304285G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DQ42|Q8IW97|Q96SR2|Q9P2L5	Silent	SNP	pfam_Peptidase_C48,pfscan_Peptidase_C48	p.K28	ENST00000296257.5	37	c.84	CCDS33902.1	3																																																																																			SENP2	-	NULL	ENSG00000163904		0.642	SENP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SENP2	HGNC	protein_coding	OTTHUMT00000345159.1	53	0.00	0	G	NM_021627		185304285	185304285	+1	no_errors	ENST00000296257	ensembl	human	known	69_37n	silent	40	16.67	8	SNP	1.000	A
SEPHS1	22929	genome.wustl.edu	37	10	13386934	13386934	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:13386934G>C	ENST00000327347.5	-	2	392	c.17C>G	c.(16-18)tCc>tGc	p.S6C	SEPHS1_ENST00000494329.1_5'UTR|SEPHS1_ENST00000537130.1_Intron|SEPHS1_ENST00000378614.4_Missense_Mutation_p.S6C|SEPHS1_ENST00000545675.1_Missense_Mutation_p.S6C	NM_001195602.1|NM_012247.4	NP_001182531.1|NP_036379.2	P49903	SPS1_HUMAN	selenophosphate synthetase 1	6					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|selenide, water dikinase activity (GO:0004756)			cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1)	16						CGGGTTAAAGGACTCCCGCGT	0.562																																						dbGAP											0													95.0	99.0	98.0					10																	13386934		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC000941	CCDS7098.1, CCDS55702.1, CCDS55703.1	10p14	2006-10-06			ENSG00000086475	ENSG00000086475			19685	protein-coding gene	gene with protein product		600902				7665581	Standard	NM_012247		Approved	SPS, SPS1	uc001imk.3	P49903	OTTHUMG00000017696	ENST00000327347.5:c.17C>G	10.37:g.13386934G>C	ENSP00000367893:p.Ser6Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DWK0|D3DRS9|D6PSQ9|Q5T5U8|Q5T5U9|Q9BVT4	Missense_Mutation	SNP	pfam_AIR_synth_C,pfam_AIR_synth,superfamily_AIR_synth_C,superfamily_PurM_N-like,pirsf_SelD,tigrfam_SelD	p.S6C	ENST00000327347.5	37	c.17	CCDS7098.1	10	.	.	.	.	.	.	.	.	.	.	G	20.3	3.962057	0.74016	.	.	ENSG00000086475	ENST00000327347;ENST00000319684;ENST00000378614;ENST00000545675;ENST00000413411	T;T;T	0.46819	0.86;0.86;0.86	4.7	4.7	0.59300	.	0.119600	0.64402	D	0.000016	T	0.52041	0.1710	L	0.42245	1.32	0.54753	D	0.999981	D;D;D;D	0.62365	0.991;0.991;0.991;0.991	P;P;P;P	0.52672	0.598;0.706;0.706;0.706	T	0.55023	-0.8205	10	0.54805	T	0.06	-14.549	14.7956	0.69876	0.0:0.0:1.0:0.0	.	6;6;6;6	Q5T5U9;P49903;D6PSQ9;D3DRS9	.;SPS1_HUMAN;.;.	C	6	ENSP00000367893:S6C;ENSP00000367877:S6C;ENSP00000441119:S6C	ENSP00000367887:S6C	S	-	2	0	SEPHS1	13426940	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.795000	0.85887	2.148000	0.66965	0.313000	0.20887	TCC	SEPHS1	-	NULL	ENSG00000086475		0.562	SEPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPHS1	HGNC	protein_coding	OTTHUMT00000046856.1	85	0.00	0	G	NM_012247		13386934	13386934	-1	no_errors	ENST00000327347	ensembl	human	known	69_37n	missense	51	21.54	14	SNP	1.000	C
SEPT10	151011	genome.wustl.edu	37	2	110303650	110303650	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:110303650C>T	ENST00000397712.2	-	10	1704	c.1326G>A	c.(1324-1326)ctG>ctA	p.L442L	SEPT10_ENST00000415095.1_Silent_p.L442L|SEPT10_ENST00000437928.1_Silent_p.L427L|SEPT10_ENST00000397714.2_Silent_p.L419L|SEPT10_ENST00000545389.1_Silent_p.L275L|SEPT10_ENST00000334001.6_Silent_p.L309L|SEPT10_ENST00000356688.4_Silent_p.L442L|SEPT10_ENST00000468616.1_5'UTR	NM_144710.3	NP_653311.1	Q9P0V9	SEP10_HUMAN	septin 10	442					cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						TGTCCTTCCTCAGGTTGCTGC	0.502											OREG0014878	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													133.0	143.0	140.0					2																	110303650		1966	4145	6111	-	-	-	SO:0001819	synonymous_variant	0			AF146760	CCDS42726.1, CCDS46383.1	2q13	2013-01-21			ENSG00000186522	ENSG00000186522		"""Septins"""	14349	protein-coding gene	gene with protein product	"""sept1-like"""	611737				12711328	Standard	NM_144710		Approved	FLJ11619	uc002tew.4	Q9P0V9	OTTHUMG00000154957	ENST00000397712.2:c.1326G>A	2.37:g.110303650C>T		Somatic	1426	WXS	Illumina GAIIx	Phase_IV	B3KRQ9|Q86VP5|Q9HAH6	Silent	SNP	pfam_Cell_div_GTP-bd,pirsf_Septin	p.L442	ENST00000397712.2	37	c.1326	CCDS46383.1	2																																																																																			SEPT10	-	NULL	ENSG00000186522		0.502	SEPT10-001	KNOWN	basic|CCDS	protein_coding	SEPT10	HGNC	protein_coding	OTTHUMT00000337804.1	168	0.00	0	C	NM_144710		110303650	110303650	-1	no_errors	ENST00000397712	ensembl	human	known	69_37n	silent	151	18.82	35	SNP	0.755	T
SEPT3	55964	genome.wustl.edu	37	22	42392933	42392933	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:42392933C>T	ENST00000396426.3	+	11	1294	c.1039C>T	c.(1039-1041)Cca>Tca	p.P347S	SEPT3_ENST00000396425.3_3'UTR|WBP2NL_ENST00000328823.9_5'Flank|SEPT3_ENST00000406029.1_Missense_Mutation_p.P283S|SEPT3_ENST00000328414.8_3'UTR	NM_145733.2	NP_663786.2	Q9UH03	SEPT3_HUMAN	septin 3	347					cell cycle (GO:0007049)|cell division (GO:0051301)	cell junction (GO:0030054)|septin complex (GO:0031105)|synapse (GO:0045202)	GTP binding (GO:0005525)			breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						CACTGTCCTTCCACCTGTGCC	0.577																																						dbGAP											0													158.0	136.0	144.0					22																	42392933		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF285107	CCDS14026.2, CCDS14027.2	22q13.2	2013-01-21			ENSG00000100167	ENSG00000100167		"""Septins"""	10750	protein-coding gene	gene with protein product		608314		SEP3			Standard	NM_019106		Approved		uc003bbr.4	Q9UH03	OTTHUMG00000030494	ENST00000396426.3:c.1039C>T	22.37:g.42392933C>T	ENSP00000379704:p.Pro347Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AHR0|Q2NKJ7|Q59GF7|Q6IBZ6|Q8N3P3|Q9HD35	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pfam_AIG1,pirsf_Septin,prints_Septin3	p.P347S	ENST00000396426.3	37	c.1039	CCDS14026.2	22	.	.	.	.	.	.	.	.	.	.	C	14.62	2.591182	0.46214	.	.	ENSG00000100167	ENST00000396426;ENST00000406029	T;T	0.50277	0.75;0.76	4.23	4.23	0.50019	.	1.851570	0.03061	N	0.155825	T	0.52208	0.1720	N	0.14661	0.345	0.80722	D	1	D;D	0.57571	0.98;0.98	P;P	0.59424	0.857;0.857	T	0.45469	-0.9259	10	0.40728	T	0.16	.	12.3031	0.54887	0.0:1.0:0.0:0.0	.	283;347	B1AHR1;Q9UH03	.;SEPT3_HUMAN	S	347;283	ENSP00000379704:P347S;ENSP00000383956:P283S	ENSP00000379704:P347S	P	+	1	0	SEPT3	40722879	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.492000	0.45311	2.375000	0.81037	0.455000	0.32223	CCA	SEPT3	-	pirsf_Septin	ENSG00000100167		0.577	SEPT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPT3	HGNC	protein_coding	OTTHUMT00000322051.1	80	0.00	0	C	NM_145734		42392933	42392933	+1	no_errors	ENST00000396426	ensembl	human	known	69_37n	missense	88	12.75	13	SNP	1.000	T
SEPT6	23157	genome.wustl.edu	37	X	118771006	118771006	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:118771006C>G	ENST00000343984.5	-	7	1204	c.940G>C	c.(940-942)Gac>Cac	p.D314H	SEPT6_ENST00000360156.7_Missense_Mutation_p.D314H|SEPT6_ENST00000394617.2_Missense_Mutation_p.D344H|SEPT6_ENST00000394610.1_Missense_Mutation_p.D314H|SEPT6_ENST00000394616.4_Missense_Mutation_p.D256H|SEPT6_ENST00000354228.4_Missense_Mutation_p.D314H|SEPT6_ENST00000354416.3_Missense_Mutation_p.D314H|SEPT6_ENST00000489216.1_Missense_Mutation_p.D314H	NM_015129.5	NP_055944.2	Q14141	SEPT6_HUMAN	septin 6	314					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						GGTTTGCTGTCAGGGTCGGTG	0.617			T	MLL	AML																																	dbGAP		Dom	yes		X	Xq24	23157	septin 6		L	0													106.0	74.0	85.0					X																	118771006		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.940G>C	X.37:g.118771006C>G	ENSP00000341524:p.Asp314His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JTK0|Q969W5|Q96A13|Q96GR1|Q96P86|Q96P87	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd,pirsf_Septin	p.D344H	ENST00000343984.5	37	c.1030	CCDS14584.1	X	.	.	.	.	.	.	.	.	.	.	C	24.4	4.526261	0.85600	.	.	ENSG00000125354	ENST00000360156;ENST00000354228;ENST00000489216;ENST00000354416;ENST00000394610;ENST00000343984;ENST00000394616;ENST00000394617	D;D;D;D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.90813	0.7115	M	0.75264	2.295	0.80722	D	1	D;B;D;D	0.89917	1.0;0.116;1.0;0.987	D;B;D;P	0.97110	1.0;0.091;0.999;0.764	D	0.91786	0.5439	10	0.66056	D	0.02	.	16.9188	0.86158	0.0:1.0:0.0:0.0	.	344;256;314;314	F5H1J5;B4E049;Q14141;Q548C9	.;.;SEPT6_HUMAN;.	H	314;314;314;314;314;314;256;344	ENSP00000353278:D314H;ENSP00000346169:D314H;ENSP00000418715:D314H;ENSP00000346397:D314H;ENSP00000378108:D314H;ENSP00000341524:D314H;ENSP00000378114:D256H;ENSP00000378115:D344H	ENSP00000341524:D314H	D	-	1	0	SEPT6	118655034	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.487000	0.81328	2.200000	0.70718	0.594000	0.82650	GAC	SEPT6	-	pirsf_Septin	ENSG00000125354		0.617	SEPT6-001	KNOWN	basic|CCDS	protein_coding	SEPT6	HGNC	protein_coding	OTTHUMT00000058059.1	58	0.00	0	C	NM_145802		118771006	118771006	-1	no_errors	ENST00000394617	ensembl	human	known	69_37n	missense	32	30.43	14	SNP	1.000	G
SEPT7	989	genome.wustl.edu	37	7	35930340	35930340	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:35930340G>A	ENST00000435235.1	+	10	1208	c.776G>A	c.(775-777)aGa>aAa	p.R259K	SEPT7_ENST00000399034.2_Missense_Mutation_p.R313K|SEPT7_ENST00000350320.6_Missense_Mutation_p.R311K|SEPT7_ENST00000399035.3_Missense_Mutation_p.R311K|SEPT7_ENST00000432293.2_Intron|SEPT7_ENST00000494488.2_Missense_Mutation_p.R298K			Q16181	SEPT7_HUMAN	septin 7	312	Septin-type G.				cilium morphogenesis (GO:0060271)|cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein heterooligomerization (GO:0051291)|regulation of embryonic cell shape (GO:0016476)	actin cytoskeleton (GO:0015629)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|septin complex (GO:0031105)|stress fiber (GO:0001725)	GTP binding (GO:0005525)|identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						TACAGAAGCAGAAAACTTGCA	0.328																																						dbGAP											0													51.0	47.0	48.0					7																	35930340		1835	4089	5924	-	-	-	SO:0001583	missense	0			S72008	CCDS75582.1	7p14.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000122545	ENSG00000122545		"""Septins"""	1717	protein-coding gene	gene with protein product		603151	"""CDC10 cell division cycle 10 homolog (S. cerevisiae)"""	CDC10		8037772	Standard	NM_001788		Approved	CDC3, SEPT7A	uc011kau.2	Q16181	OTTHUMG00000155063	ENST00000435235.1:c.776G>A	7.37:g.35930340G>A	ENSP00000413507:p.Arg259Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q52M76|Q6NX50	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd,pirsf_Septin,prints_Septin7	p.R313K	ENST00000435235.1	37	c.938		7	.	.	.	.	.	.	.	.	.	.	G	15.67	2.902274	0.52227	.	.	ENSG00000122545	ENST00000435235;ENST00000399034;ENST00000350320;ENST00000399035;ENST00000537785;ENST00000493670;ENST00000494488	T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78	4.94	4.94	0.65067	.	0.000000	0.85682	U	0.000000	T	0.32793	0.0841	N	0.20445	0.575	0.80722	D	1	B;B;B	0.10296	0.001;0.003;0.003	B;B;B	0.16289	0.009;0.009;0.015	T	0.17198	-1.0377	10	0.07030	T	0.85	.	18.5352	0.91008	0.0:0.0:1.0:0.0	.	257;311;312	B4DNE4;E7EPK1;Q16181	.;.;SEPT7_HUMAN	K	259;313;311;311;257;259;298	ENSP00000413507:R259K;ENSP00000381992:R313K;ENSP00000344868:R311K;ENSP00000381993:R311K;ENSP00000438395:R298K	ENSP00000344868:R311K	R	+	2	0	SEPT7	35896865	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.455000	0.83008	0.563000	0.77884	AGA	SEPT7	-	pfam_Cell_div_GTP-bd,pirsf_Septin	ENSG00000122545		0.328	SEPT7-001	NOVEL	basic	protein_coding	SEPT7	HGNC	protein_coding	OTTHUMT00000338285.1	77	0.00	0	G	NM_001788		35930340	35930340	+1	no_errors	ENST00000399034	ensembl	human	known	69_37n	missense	50	19.35	12	SNP	1.000	A
SERAC1	84947	genome.wustl.edu	37	6	158569906	158569906	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:158569906G>C	ENST00000367104.3	-	5	477	c.346C>G	c.(346-348)Cca>Gca	p.P116A	SERAC1_ENST00000367101.1_Missense_Mutation_p.P116A|SERAC1_ENST00000367102.2_Missense_Mutation_p.P116A|SERAC1_ENST00000607000.1_Missense_Mutation_p.P116A	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1	116					extracellular matrix organization (GO:0030198)|GPI anchor metabolic process (GO:0006505)|intracellular protein transport (GO:0006886)|phospholipid biosynthetic process (GO:0008654)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		CCAGCAAATGGATTCCGCAGT	0.338																																						dbGAP											0													157.0	125.0	136.0					6																	158569906		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC001705	CCDS5255.1	6q25.3	2003-05-12			ENSG00000122335	ENSG00000122335			21061	protein-coding gene	gene with protein product		614725					Standard	NM_032861		Approved	FLJ14917	uc003qrc.2	Q96JX3	OTTHUMG00000015905	ENST00000367104.3:c.346C>G	6.37:g.158569906G>C	ENSP00000356071:p.Pro116Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q49AT1|Q5VTX3|Q6PKF3	Missense_Mutation	SNP	pfam_PGAP1-like,superfamily_ARM-type_fold	p.P116A	ENST00000367104.3	37	c.346	CCDS5255.1	6	.	.	.	.	.	.	.	.	.	.	G	12.23	1.875169	0.33162	.	.	ENSG00000122335	ENST00000367102;ENST00000367104;ENST00000367101	T;T;T	0.75938	-0.98;-0.98;-0.98	5.61	5.61	0.85477	.	0.052944	0.85682	D	0.000000	T	0.59918	0.2229	M	0.73598	2.24	0.28660	N	0.906169	P	0.37525	0.598	B	0.30316	0.114	T	0.51236	-0.8731	10	0.54805	T	0.06	-18.6623	18.4078	0.90541	0.0:0.0:1.0:0.0	.	116	Q96JX3	SRAC1_HUMAN	A	116	ENSP00000356069:P116A;ENSP00000356071:P116A;ENSP00000356068:P116A	ENSP00000356068:P116A	P	-	1	0	SERAC1	158489894	1.000000	0.71417	0.333000	0.25482	0.381000	0.30169	5.985000	0.70556	-0.388000	0.07797	0.477000	0.44152	CCA	SERAC1	-	NULL	ENSG00000122335		0.338	SERAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERAC1	HGNC	protein_coding	OTTHUMT00000042862.1	150	0.00	0	G	NM_032861		158569906	158569906	-1	no_errors	ENST00000367104	ensembl	human	known	69_37n	missense	126	25.44	43	SNP	0.052	C
SERAC1	84947	genome.wustl.edu	37	6	158571560	158571560	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:158571560G>C	ENST00000367104.3	-	4	321	c.190C>G	c.(190-192)Caa>Gaa	p.Q64E	SERAC1_ENST00000367101.1_Missense_Mutation_p.Q64E|SERAC1_ENST00000367102.2_Missense_Mutation_p.Q64E|SERAC1_ENST00000607000.1_Missense_Mutation_p.Q64E	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1	64					extracellular matrix organization (GO:0030198)|GPI anchor metabolic process (GO:0006505)|intracellular protein transport (GO:0006886)|phospholipid biosynthetic process (GO:0008654)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		TCTACCACTTGAGTATCTAAT	0.318																																						dbGAP											0													108.0	108.0	108.0					6																	158571560		2203	4297	6500	-	-	-	SO:0001583	missense	0			BC001705	CCDS5255.1	6q25.3	2003-05-12			ENSG00000122335	ENSG00000122335			21061	protein-coding gene	gene with protein product		614725					Standard	NM_032861		Approved	FLJ14917	uc003qrc.2	Q96JX3	OTTHUMG00000015905	ENST00000367104.3:c.190C>G	6.37:g.158571560G>C	ENSP00000356071:p.Gln64Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q49AT1|Q5VTX3|Q6PKF3	Missense_Mutation	SNP	pfam_PGAP1-like,superfamily_ARM-type_fold	p.Q64E	ENST00000367104.3	37	c.190	CCDS5255.1	6	.	.	.	.	.	.	.	.	.	.	G	13.19	2.164333	0.38217	.	.	ENSG00000122335	ENST00000367102;ENST00000367104;ENST00000367101	T;T;T	0.66638	-0.22;-0.22;-0.22	5.91	0.533	0.17121	.	0.471419	0.26126	N	0.026200	T	0.44850	0.1313	M	0.65975	2.015	0.37988	D	0.933808	B	0.31910	0.346	B	0.25140	0.058	T	0.40608	-0.9554	10	0.40728	T	0.16	-6.0505	13.81	0.63256	0.0:0.5103:0.3764:0.1133	.	64	Q96JX3	SRAC1_HUMAN	E	64	ENSP00000356069:Q64E;ENSP00000356071:Q64E;ENSP00000356068:Q64E	ENSP00000356068:Q64E	Q	-	1	0	SERAC1	158491548	1.000000	0.71417	0.932000	0.37286	0.905000	0.53344	1.752000	0.38349	-0.134000	0.11516	-1.238000	0.01547	CAA	SERAC1	-	NULL	ENSG00000122335		0.318	SERAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERAC1	HGNC	protein_coding	OTTHUMT00000042862.1	144	0.00	0	G	NM_032861		158571560	158571560	-1	no_errors	ENST00000367104	ensembl	human	known	69_37n	missense	100	19.35	24	SNP	0.920	C
SERF1B	728492	genome.wustl.edu	37	5	69337536	69337536	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:69337536C>G	ENST00000380750.3	+	3	485	c.302C>G	c.(301-303)tCt>tGt	p.S101C	SERF1B_ENST00000506542.1_Intron|SERF1B_ENST00000515588.1_Missense_Mutation_p.S87C	NM_022978.2	NP_075267.1	O75920	SERF1_HUMAN	small EDRK-rich factor 1B (centromeric)	101					nervous system development (GO:0007399)								Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		ttcttcccttctttttatgag	0.403																																						dbGAP											0													2.0	2.0	2.0					5																	69337536		1051	2285	3336	-	-	-	SO:0001583	missense	0				CCDS43326.1, CCDS54866.1	5q13	2008-05-30			ENSG00000205572	ENSG00000205572			10756	protein-coding gene	gene with protein product							Standard	NM_022978		Approved	FAM2B, H4F5C		O75920	OTTHUMG00000162391	ENST00000380750.3:c.302C>G	5.37:g.69337536C>G	ENSP00000370126:p.Ser101Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZKM2|O75919|Q52LK5	Missense_Mutation	SNP	pfam_Uncharacterised_SERF	p.S101C	ENST00000380750.3	37	c.302	CCDS43326.1	5	.	.	.	.	.	.	.	.	.	.	C	3.413	-0.119756	0.06838	.	.	ENSG00000205572	ENST00000380750;ENST00000515588	T	0.55052	0.54	0.576	-0.523	0.11924	.	.	.	.	.	T	0.32346	0.0826	.	.	.	0.09310	N	1	P	0.46064	0.872	B	0.33339	0.162	T	0.19451	-1.0305	7	0.87932	D	0	-21.5293	.	.	.	.	101	O75920	SERF1_HUMAN	C	101;87	ENSP00000370126:S101C	ENSP00000370126:S101C	S	+	2	0	SERF1B	69373292	0.000000	0.05858	0.002000	0.10522	0.715000	0.41141	-0.425000	0.07017	-0.261000	0.09405	0.194000	0.17425	TCT	SERF1B	-	NULL	ENSG00000205572		0.403	SERF1B-001	KNOWN	basic|CCDS	protein_coding	SERF1B	HGNC	protein_coding	OTTHUMT00000368724.1	15	0.00	0	C	NM_022978		69337536	69337536	+1	no_errors	ENST00000380750	ensembl	human	known	69_37n	missense	8	38.46	5	SNP	0.003	G
SERINC3	10955	genome.wustl.edu	37	20	43138622	43138622	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:43138622G>A	ENST00000342374.4	-	5	680	c.523C>T	c.(523-525)Cag>Tag	p.Q175*	SERINC3_ENST00000255175.1_Nonsense_Mutation_p.Q175*|SERINC3_ENST00000541235.1_Nonsense_Mutation_p.Q120*	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	175					phosphatidylserine metabolic process (GO:0006658)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			AGCACCAGCTGAATGAGGATG	0.433																																						dbGAP											0													148.0	131.0	137.0					20																	43138622		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U49188	CCDS13333.1	20q13.12	2008-05-14	2005-11-15	2005-11-15	ENSG00000132824	ENSG00000132824			11699	protein-coding gene	gene with protein product		607165	"""tumor differentially expressed 1"""	TDE1		10559794	Standard	NM_006811		Approved	DIFF33, TDE, SBBI99, TMS-1, AIGP1	uc002xme.3	Q13530	OTTHUMG00000033087	ENST00000342374.4:c.523C>T	20.37:g.43138622G>A	ENSP00000340243:p.Gln175*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DUE9|O43717|Q9BR33	Nonsense_Mutation	SNP	pfam_TMS_TDE	p.Q175*	ENST00000342374.4	37	c.523	CCDS13333.1	20	.	.	.	.	.	.	.	.	.	.	G	37	6.015700	0.97205	.	.	ENSG00000132824	ENST00000255175;ENST00000342374;ENST00000538937;ENST00000541235	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-13.1589	19.9142	0.97043	0.0:0.0:1.0:0.0	.	.	.	.	X	175;175;142;120	.	ENSP00000255175:Q175X	Q	-	1	0	SERINC3	42572036	1.000000	0.71417	1.000000	0.80357	0.172000	0.22775	9.564000	0.98151	2.941000	0.99782	0.655000	0.94253	CAG	SERINC3	-	pfam_TMS_TDE	ENSG00000132824		0.433	SERINC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERINC3	HGNC	protein_coding	OTTHUMT00000080544.3	76	0.00	0	G	NM_006811		43138622	43138622	-1	no_errors	ENST00000255175	ensembl	human	known	69_37n	nonsense	100	23.66	31	SNP	1.000	A
SERINC5	256987	genome.wustl.edu	37	5	79498722	79498722	+	Missense_Mutation	SNP	G	G	T	rs375854503		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:79498722G>T	ENST00000507668.2	-	2	328	c.178C>A	c.(178-180)Cac>Aac	p.H60N	SERINC5_ENST00000509193.1_Missense_Mutation_p.H60N|SERINC5_ENST00000513907.1_5'UTR|SERINC5_ENST00000512972.2_Missense_Mutation_p.H60N|SERINC5_ENST00000512721.1_Missense_Mutation_p.H60N	NM_001174071.1|NM_178276.5	NP_001167542.1|NP_840060.1	Q86VE9	SERC5_HUMAN	serine incorporator 5	60					myelination (GO:0042552)|phosphatidylserine metabolic process (GO:0006658)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(3)|kidney(1)|lung(3)|ovary(1)	8		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)		TTCATCTTGTGAGCCACGGTT	0.507																																						dbGAP											0													84.0	83.0	83.0					5																	79498722		2098	4227	6325	-	-	-	SO:0001583	missense	0			AF498273	CCDS54874.1	5q14.1	2014-01-28	2005-10-14	2005-10-14		ENSG00000164300			18825	protein-coding gene	gene with protein product		614551	"""chromosome 5 open reading frame 12"""	C5orf12		12688535	Standard	NM_178276		Approved	TPO1	uc011ctj.2	Q86VE9		ENST00000507668.2:c.178C>A	5.37:g.79498722G>T	ENSP00000426237:p.His60Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DMH7|Q495A4|Q495A6	Missense_Mutation	SNP	pfam_TMS_TDE	p.H60N	ENST00000507668.2	37	c.178	CCDS54873.1	5	.	.	.	.	.	.	.	.	.	.	G	9.447	1.089496	0.20390	.	.	ENSG00000164300	ENST00000507668;ENST00000329637;ENST00000509193;ENST00000512972;ENST00000512721	T;T;T;T	0.12984	2.63;2.63;2.63;2.63	5.62	1.91	0.25777	.	1.038400	0.07467	N	0.901655	T	0.04497	0.0123	N	0.01140	-0.99	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.42783	-0.9431	10	0.20519	T	0.43	.	5.6257	0.17480	0.0:0.1401:0.2948:0.5651	.	60;60;60;60	B4DMH7;Q86VE9-2;D6RHG7;Q86VE9	.;.;.;SERC5_HUMAN	N	60;59;60;60;60	ENSP00000426237:H60N;ENSP00000426134:H60N;ENSP00000421665:H60N;ENSP00000420863:H60N	ENSP00000327542:H59N	H	-	1	0	SERINC5	79534478	0.001000	0.12720	0.000000	0.03702	0.182000	0.23217	0.480000	0.22244	0.389000	0.25086	-0.262000	0.10625	CAC	SERINC5	-	pfam_TMS_TDE	ENSG00000164300		0.507	SERINC5-201	KNOWN	basic|CCDS	protein_coding	SERINC5	HGNC	protein_coding		73	0.00	0	G	NM_178276		79498722	79498722	-1	no_errors	ENST00000509193	ensembl	human	known	69_37n	missense	54	23.29	17	SNP	0.000	T
SERPINA10	51156	genome.wustl.edu	37	14	94756904	94756904	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:94756904G>C	ENST00000393096.1	-	2	492	c.27C>G	c.(25-27)ctC>ctG	p.L9L	SERPINA10_ENST00000554173.1_Silent_p.L9L|SERPINA10_ENST00000554723.1_Silent_p.L49L|SERPINA10_ENST00000261994.4_Silent_p.L9L	NM_016186.2	NP_057270.1	Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	9					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		GGAGGACGGAGAGCAGGAGAC	0.622																																						dbGAP											0													26.0	28.0	28.0					14																	94756904		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF181467	CCDS9923.1	14q32.13	2014-02-18	2005-08-18		ENSG00000140093	ENSG00000140093		"""Serine (or cysteine) peptidase inhibitors"""	15996	protein-coding gene	gene with protein product		605271	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10"""			10460162, 9689066, 24172014	Standard	NM_016186		Approved	PZI, ZPI	uc001yct.3	Q9UK55	OTTHUMG00000171345	ENST00000393096.1:c.27C>G	14.37:g.94756904G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A5Z2A5|Q6UWX9|Q86U20	Silent	SNP	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	p.L9	ENST00000393096.1	37	c.27	CCDS9923.1	14																																																																																			SERPINA10	-	superfamily_Sepin_dom	ENSG00000140093		0.622	SERPINA10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINA10	HGNC	protein_coding	OTTHUMT00000413061.1	52	0.00	0	G	NM_016186		94756904	94756904	-1	no_errors	ENST00000261994	ensembl	human	known	69_37n	silent	19	57.78	26	SNP	0.013	C
SERPINA9	327657	genome.wustl.edu	37	14	94929466	94929466	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:94929466G>C	ENST00000380365.3	-	5	1296	c.1218C>G	c.(1216-1218)ctC>ctG	p.L406L	SERPINA9_ENST00000424550.2_Silent_p.L275L|SERPINA9_ENST00000448305.2_Silent_p.L326L|SERPINA9_ENST00000298845.7_Silent_p.L324L|SERPINA9_ENST00000337425.5_Silent_p.L424L|RP11-349I1.2_ENST00000536735.1_RNA			Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	406					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)		TCCCTAGAAAGAGAATACCGT	0.433																																						dbGAP											0													113.0	108.0	110.0					14																	94929466		1891	4118	6009	-	-	-	SO:0001819	synonymous_variant	0			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.1218C>G	14.37:g.94929466G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DVH4|B9ZVX3|Q2T9J2|Q6UWP9|Q86WD4|Q86WD5|Q86WD6|Q86YP6|Q86YP7	Silent	SNP	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom,prints_Prot_inh_Lserp2	p.L424	ENST00000380365.3	37	c.1272		14																																																																																			SERPINA9	-	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	ENSG00000170054		0.433	SERPINA9-008	KNOWN	basic|appris_principal	protein_coding	SERPINA9	HGNC	protein_coding	OTTHUMT00000395803.2	68	0.00	0	G	NM_175739		94929466	94929466	-1	no_errors	ENST00000337425	ensembl	human	known	69_37n	silent	64	22.89	19	SNP	1.000	C
SERPINB12	89777	genome.wustl.edu	37	18	61234181	61234181	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr18:61234181C>G	ENST00000269491.1	+	7	1155	c.1155C>G	c.(1153-1155)ctC>ctG	p.L385L	SERPINB12_ENST00000382768.1_Silent_p.L405L	NM_080474.1	NP_536722.1	Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	385					hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of protein catabolic process (GO:0042177)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						ACCCTTTTCTCTTTTTCATTA	0.483																																						dbGAP											0													69.0	67.0	68.0					18																	61234181		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF411191	CCDS11984.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166634	ENSG00000166634		"""Serine (or cysteine) peptidase inhibitors"""	14220	protein-coding gene	gene with protein product		615662	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 12"""			24172014	Standard	NM_080474		Approved	YUKOPIN	uc010xen.2	Q96P63	OTTHUMG00000132789	ENST00000269491.1:c.1155C>G	18.37:g.61234181C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3SYB4	Silent	SNP	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	p.L385	ENST00000269491.1	37	c.1155	CCDS11984.1	18																																																																																			SERPINB12	-	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	ENSG00000166634		0.483	SERPINB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB12	HGNC	protein_coding	OTTHUMT00000256197.1	51	0.00	0	C	NM_080474		61234181	61234181	+1	no_errors	ENST00000269491	ensembl	human	known	69_37n	silent	24	25.00	8	SNP	0.998	G
SERPINB4	6318	genome.wustl.edu	37	18	61306949	61306949	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr18:61306949C>G	ENST00000341074.5	-	6	646	c.531G>C	c.(529-531)gtG>gtC	p.V177V	SERPINB4_ENST00000356424.6_Silent_p.V177V	NM_002974.2	NP_002965.1	P48594	SPB4_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 4	177					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						AGATTGCGTTCACAAGAACCA	0.323																																						dbGAP											0													97.0	97.0	97.0					18																	61306949		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			X89015	CCDS11986.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206073	ENSG00000206073		"""Serine (or cysteine) peptidase inhibitors"""	10570	protein-coding gene	gene with protein product	"""squamous cell carcinoma antigen 2"""	600518	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4"""	SCCA2		7724531, 14630915, 24172014	Standard	NM_175041		Approved	PI11, LEUPIN, SCCA-2, SCCA1		P48594	OTTHUMG00000060405	ENST00000341074.5:c.531G>C	18.37:g.61306949C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K847	Nonstop_Mutation	SNP	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	p.*179S	ENST00000341074.5	37	c.536	CCDS11986.1	18	.	.	.	.	.	.	.	.	.	.	C	0.087	-1.173728	0.01646	.	.	ENSG00000206073	ENST00000413673	.	.	.	4.27	1.36	0.22044	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.8888	0.18896	0.1381:0.6261:0.0:0.2358	.	.	.	.	S	179	.	.	X	-	2	2	SERPINB4	59457929	0.623000	0.27094	0.881000	0.34555	0.006000	0.05464	-0.163000	0.09997	0.436000	0.26393	-0.248000	0.11899	TGA	SERPINB4	-	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	ENSG00000206073		0.323	SERPINB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB4	HGNC	protein_coding	OTTHUMT00000133794.2	193	0.00	0	C	NM_175041		61306949	61306949	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000413673	ensembl	human	novel	69_37n	nonstop	70	34.58	37	SNP	1.000	G
SERPINB11	89778	genome.wustl.edu	37	18	61379843	61379843	+	RNA	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr18:61379843C>T	ENST00000382749.5	+	0	518				SERPINB11_ENST00000544088.1_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000489748.1_RNA|SERPINB11_ENST00000538847.1_RNA			Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				GTGTCTAATTCTCTCAAATCA	0.423																																					Ovarian(27;496 784 5942 8975 23930)	dbGAP											0													101.0	102.0	102.0					18																	61379843		1898	4115	6013	-	-	-			0					18q21.33	2014-02-18	2009-01-22		ENSG00000206072	ENSG00000206072		"""Serine (or cysteine) peptidase inhibitors"""	14221	protein-coding gene	gene with protein product		615682	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 11"", ""serpin peptidase inhibitor, clade B (ovalbumin), member 11"""			17562709, 24172014	Standard	XM_006722569		Approved	EPIPIN	uc002ljk.4	Q96P15	OTTHUMG00000060404		18.37:g.61379843C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9R0|Q5Q120|Q5Q121|Q5Q122|Q5Q123|Q6ISD3|Q96P13|Q96P14	Silent	SNP	NULL	p.F91	ENST00000382749.5	37	c.273		18																																																																																			SERPINB11	-	NULL	ENSG00000206072		0.423	SERPINB11-002	KNOWN	basic	polymorphic_pseudogene	SERPINB11	HGNC	polymorphic_pseudogene	OTTHUMT00000207392.3	112	0.00	0	C	NM_080475		61379843	61379843	+1	pseudogene	ENST00000382749	ensembl	human	known	69_37n	silent	45	39.19	29	SNP	0.155	T
SERPING1	710	genome.wustl.edu	37	11	57369596	57369596	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:57369596C>T	ENST00000278407.4	+	4	866	c.639C>T	c.(637-639)ttC>ttT	p.F213F	SERPING1_ENST00000531605.1_3'UTR|SERPING1_ENST00000340687.6_Silent_p.F213F|SERPING1_ENST00000378323.4_Silent_p.F218F|SERPING1_ENST00000378324.2_Silent_p.F161F|SERPING1_ENST00000403558.1_Silent_p.F247F	NM_000062.2	NP_000053.2	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	213					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						TGAAGGGCTTCACGACCAAAG	0.572																																						dbGAP											0													105.0	84.0	91.0					11																	57369596		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			X54486	CCDS7962.1	11q12.1	2014-09-17	2008-07-31		ENSG00000149131	ENSG00000149131		"""Serine (or cysteine) peptidase inhibitors"""	1228	protein-coding gene	gene with protein product	"""plasma protease C1 inhibitor"", ""angioedema, hereditary"""	606860	"""serine (or cysteine) proteinase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary)"""	C1NH		2026152, 24172014	Standard	NM_000062		Approved	C1IN, C1-INH, HAE1, HAE2	uc001nkp.1	P05155	OTTHUMG00000150304	ENST00000278407.4:c.639C>T	11.37:g.57369596C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMU0|A8KAI9|B2R6L5|B4E1F0|B4E1H2|Q16304|Q547W3|Q59EI5|Q7Z455|Q96FE0|Q9UC49|Q9UCF9	Silent	SNP	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	p.F213	ENST00000278407.4	37	c.639	CCDS7962.1	11																																																																																			SERPING1	-	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	ENSG00000149131		0.572	SERPING1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SERPING1	HGNC	protein_coding	OTTHUMT00000317465.1	55	0.00	0	C	NM_000062		57369596	57369596	+1	no_errors	ENST00000278407	ensembl	human	known	69_37n	silent	46	24.59	15	SNP	0.000	T
SETD1B	23067	genome.wustl.edu	37	12	122268010	122268010	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:122268010G>A	ENST00000604567.1	+	17	5834	c.5766G>A	c.(5764-5766)caG>caA	p.Q1922Q	SETD1B_ENST00000542440.1_Silent_p.Q1879Q|SETD1B_ENST00000267197.5_Silent_p.Q1879Q			Q9UPS6	SET1B_HUMAN	SET domain containing 1B	1922	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|endometrium(6)|kidney(2)|prostate(2)	11						TGGAGTCACAGAAGAAGATAG	0.547																																						dbGAP											0													130.0	112.0	118.0					12																	122268010		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AB028999	CCDS53838.1	12q24.31	2013-02-12			ENSG00000139718	ENSG00000139718		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29187	protein-coding gene	gene with protein product		611055				10470851, 17355966	Standard	NM_015048		Approved	KIAA1076, Set1B, KMT2G	uc001ubi.3	Q9UPS6	OTTHUMG00000169080	ENST00000604567.1:c.5766G>A	12.37:g.122268010G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	F6MFW1	Silent	SNP	pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom	p.Q1879	ENST00000604567.1	37	c.5637		12																																																																																			SETD1B	-	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	ENSG00000139718		0.547	SETD1B-002	PUTATIVE	non_canonical_U12|basic|appris_candidate_longest	protein_coding	SETD1B	HGNC	protein_coding	OTTHUMT00000468264.1	41	0.00	0	G	XM_037523		122268010	122268010	+1	no_errors	ENST00000267197	ensembl	human	known	69_37n	silent	45	15.09	8	SNP	1.000	A
SETD3	84193	genome.wustl.edu	37	14	99865091	99865091	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:99865091G>C	ENST00000331768.5	-	13	1869	c.1710C>G	c.(1708-1710)ctC>ctG	p.L570L		NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	570					histone H3-K36 methylation (GO:0010452)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|peptidyl-lysine trimethylation (GO:0018023)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				TTTCTTGATTGAGACTTTCAT	0.468																																						dbGAP											0													218.0	199.0	205.0					14																	99865091		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK026680	CCDS9951.1, CCDS9952.1	14q32.2	2006-02-15	2006-02-15	2006-02-15	ENSG00000183576	ENSG00000183576			20493	protein-coding gene	gene with protein product		615671	"""chromosome 14 open reading frame 154"""	C14orf154			Standard	NM_032233		Approved	FLJ23027	uc001ygc.3	Q86TU7	OTTHUMG00000028970	ENST00000331768.5:c.1710C>G	14.37:g.99865091G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJU3|A5PLP0|B4DZE8|Q0VAQ2|Q659C0|Q86TU8|Q96GY9|Q9H5U5	Silent	SNP	pfam_Rubisco_LSMT_subst-bd,pfam_SET_dom,superfamily_Rubisco_LSMT_subst-bd	p.L570	ENST00000331768.5	37	c.1710	CCDS9951.1	14																																																																																			SETD3	-	NULL	ENSG00000183576		0.468	SETD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD3	HGNC	protein_coding	OTTHUMT00000072339.3	183	0.00	0	G	NM_032233		99865091	99865091	-1	no_errors	ENST00000331768	ensembl	human	known	69_37n	silent	76	50.97	79	SNP	0.000	C
SETD8	387893	genome.wustl.edu	37	12	123888131	123888131	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:123888131G>T	ENST00000402868.3	+	6	1035	c.609G>T	c.(607-609)agG>agT	p.R203S	SETD8_ENST00000330479.4_Missense_Mutation_p.R203S			Q9NQR1	SETD8_HUMAN	SET domain containing (lysine methyltransferase) 8	244					histone lysine methylation (GO:0034968)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)		CTGAAGAAAGGAAAAGAATAG	0.478																																						dbGAP											0													132.0	125.0	128.0					12																	123888131		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY102937	CCDS9247.1	12q24.31	2011-07-01			ENSG00000183955	ENSG00000183955		"""Chromatin-modifying enzymes / K-methyltransferases"""	29489	protein-coding gene	gene with protein product		607240				15933070, 12086618, 12121615	Standard	NM_020382		Approved	SET8, SET07, PR-Set7, KMT5A	uc001uew.3	Q9NQR1	OTTHUMG00000150477	ENST00000402868.3:c.609G>T	12.37:g.123888131G>T	ENSP00000384629:p.Arg203Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9D0|Q86W83|Q8TD09	Missense_Mutation	SNP	pfam_SET_dom,smart_SET_dom,pirsf_Hist_H4-K20_MeTrfase,pfscan_SET_dom	p.R203S	ENST00000402868.3	37	c.609	CCDS9247.1	12	.	.	.	.	.	.	.	.	.	.	G	16.66	3.184077	0.57800	.	.	ENSG00000183955	ENST00000402868;ENST00000330479;ENST00000437502	D;D	0.98249	-4.82;-4.82	5.05	5.05	0.67936	.	0.324927	0.36234	N	0.002710	D	0.95373	0.8498	L	0.29908	0.895	0.53688	D	0.99997	B;B	0.25743	0.133;0.038	B;B	0.18561	0.017;0.022	D	0.93713	0.7026	10	0.25106	T	0.35	-16.0806	16.9963	0.86368	0.0:0.0:1.0:0.0	.	244;203	Q9NQR1;Q9NQR1-2	SETD8_HUMAN;.	S	203;203;194	ENSP00000384629:R203S;ENSP00000332995:R203S	ENSP00000332995:R203S	R	+	3	2	SETD8	122454084	1.000000	0.71417	0.962000	0.40283	0.929000	0.56500	5.291000	0.65667	2.362000	0.80069	0.561000	0.74099	AGG	SETD8	-	pirsf_Hist_H4-K20_MeTrfase	ENSG00000183955		0.478	SETD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD8	HGNC	protein_coding	OTTHUMT00000318263.1	73	0.00	0	G	NM_020382		123888131	123888131	+1	no_errors	ENST00000330479	ensembl	human	known	69_37n	missense	69	21.59	19	SNP	1.000	T
SETDB1	9869	genome.wustl.edu	37	1	150935477	150935477	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:150935477G>C	ENST00000271640.5	+	19	3509	c.3319G>C	c.(3319-3321)Gaa>Caa	p.E1107Q	CERS2_ENST00000345896.4_5'Flank|RP11-316M1.12_ENST00000560481.1_RNA|RP11-316M1.12_ENST00000561111.1_RNA|SETDB1_ENST00000368969.4_Missense_Mutation_p.E1107Q	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	1107	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	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;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CAGCAGCACAGAAAGTGAGGG	0.532																																						dbGAP											0													69.0	57.0	61.0					1																	150935477		2203	4300	6503	-	-	-	SO:0001583	missense	0			D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.3319G>C	1.37:g.150935477G>C	ENSP00000271640:p.Glu1107Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Missense_Mutation	SNP	pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,smart_Tudor,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom	p.E1107Q	ENST00000271640.5	37	c.3319	CCDS44217.1	1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.960191	0.74016	.	.	ENSG00000143379	ENST00000271640;ENST00000368969;ENST00000498193	D;D;T	0.88509	-2.39;-2.39;1.0	5.55	5.55	0.83447	SET domain (3);	0.274178	0.35708	N	0.003033	D	0.84437	0.5472	L	0.29908	0.895	0.80722	D	1	B;B;B	0.30542	0.284;0.241;0.284	B;B;B	0.41723	0.365;0.249;0.365	D	0.83807	0.0239	10	0.49607	T	0.09	.	19.4962	0.95073	0.0:0.0:1.0:0.0	.	1107;1107;1107	E9PRF4;Q15047-3;Q15047	.;.;SETB1_HUMAN	Q	1107	ENSP00000271640:E1107Q;ENSP00000357965:E1107Q;ENSP00000432348:E1107Q	ENSP00000271640:E1107Q	E	+	1	0	SETDB1	149202101	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.633000	0.83260	2.634000	0.89283	0.561000	0.74099	GAA	SETDB1	-	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	ENSG00000143379		0.532	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SETDB1	HGNC	protein_coding	OTTHUMT00000084717.2	81	0.00	0	G			150935477	150935477	+1	no_errors	ENST00000271640	ensembl	human	known	69_37n	missense	87	24.35	28	SNP	1.000	C
SETDB2	83852	genome.wustl.edu	37	13	50034302	50034302	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr13:50034302G>C	ENST00000317257.8	+	3	901	c.76G>C	c.(76-78)Gaa>Caa	p.E26Q	SETDB2_ENST00000258672.5_Missense_Mutation_p.E26Q|SETDB2_ENST00000354234.4_Missense_Mutation_p.E26Q	NM_031915.2	NP_114121.2	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2	26					chromosome segregation (GO:0007059)|heart looping (GO:0001947)|histone H3-K9 methylation (GO:0051567)|left/right axis specification (GO:0070986)|mitotic nuclear division (GO:0007067)|negative regulation of transcription, DNA-templated (GO:0045892)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		CTTCATTTTTGAACAAGTACA	0.338																																						dbGAP											0													97.0	104.0	102.0					13																	50034302		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF334407	CCDS9417.1, CCDS53868.1	13q14	2011-07-01	2003-05-06	2003-05-09	ENSG00000136169	ENSG00000136169		"""Chromatin-modifying enzymes / K-methyltransferases"""	20263	protein-coding gene	gene with protein product		607865	"""chromosome 13 open reading frame 4"""	C13orf4		11306461	Standard	NM_031915		Approved	CLLD8, CLLL8, KMT1F	uc001vda.3	Q96T68	OTTHUMG00000016918	ENST00000317257.8:c.76G>C	13.37:g.50034302G>C	ENSP00000326477:p.Glu26Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TC65|Q5TC66|Q5W0A7|Q659A7|Q86UD6|Q96AI6	Missense_Mutation	SNP	pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom	p.E26Q	ENST00000317257.8	37	c.76	CCDS9417.1	13	.	.	.	.	.	.	.	.	.	.	G	20.7	4.028614	0.75390	.	.	ENSG00000136169	ENST00000354234;ENST00000317257;ENST00000258672	D;D;T	0.89552	-2.49;-2.53;0.83	5.46	5.46	0.80206	.	0.266059	0.42294	D	0.000731	D	0.90438	0.7006	L	0.29908	0.895	0.47374	D	0.999405	D;D;D	0.69078	0.961;0.997;0.997	P;D;P	0.67725	0.603;0.953;0.899	D	0.91203	0.4993	10	0.72032	D	0.01	.	15.1533	0.72720	0.0:0.0:1.0:0.0	.	26;26;26	Q96T68-3;Q96T68-2;Q96T68	.;.;SETB2_HUMAN	Q	26	ENSP00000346175:E26Q;ENSP00000326477:E26Q;ENSP00000258672:E26Q	ENSP00000258672:E26Q	E	+	1	0	SETDB2	48932303	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	3.609000	0.54117	2.726000	0.93360	0.655000	0.94253	GAA	SETDB2	-	NULL	ENSG00000136169		0.338	SETDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SETDB2	HGNC	protein_coding	OTTHUMT00000044925.1	116	0.00	0	G	NM_031915		50034302	50034302	+1	no_errors	ENST00000317257	ensembl	human	known	69_37n	missense	69	19.77	17	SNP	1.000	C
SETX	23064	genome.wustl.edu	37	9	135139998	135139998	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:135139998G>A	ENST00000224140.5	-	26	7844	c.7662C>T	c.(7660-7662)ttC>ttT	p.F2554F	SETX_ENST00000393220.1_Silent_p.F2521F|SETX_ENST00000372169.2_Silent_p.F2583F|SETX_ENST00000477049.1_5'UTR	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	2554					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		GATCCCAAAGGAATATTCCTC	0.552																																						dbGAP											0													98.0	99.0	99.0					9																	135139998		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.7662C>T	9.37:g.135139998G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Silent	SNP	NULL	p.F2583	ENST00000224140.5	37	c.7749	CCDS6947.1	9																																																																																			SETX	-	NULL	ENSG00000107290		0.552	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETX	HGNC	protein_coding	OTTHUMT00000054774.3	74	0.00	0	G	NM_015046		135139998	135139998	-1	no_errors	ENST00000372169	ensembl	human	known	69_37n	silent	80	22.33	23	SNP	0.009	A
SEZ6L	23544	genome.wustl.edu	37	22	26689006	26689006	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:26689006G>T	ENST00000248933.6	+	2	824	c.729G>T	c.(727-729)atG>atT	p.M243I	SEZ6L_ENST00000402979.1_Missense_Mutation_p.M16I|SEZ6L_ENST00000360929.3_Missense_Mutation_p.M243I|SEZ6L_ENST00000403121.1_Missense_Mutation_p.M16I|SEZ6L_ENST00000404234.3_Missense_Mutation_p.M243I|SEZ6L_ENST00000529632.2_Missense_Mutation_p.M243I|SEZ6L_ENST00000343706.4_Missense_Mutation_p.M243I			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	243					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TGGCCCTGATGGACAAAGGTG	0.637																																						dbGAP											0													49.0	42.0	44.0					22																	26689006		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.729G>T	22.37:g.26689006G>T	ENSP00000248933:p.Met243Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	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.M243I	ENST00000248933.6	37	c.729	CCDS13833.1	22	.	.	.	.	.	.	.	.	.	.	G	6.782	0.513299	0.12944	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706;ENST00000403121;ENST00000402979	T;T;T;T;T;T;T	0.26223	1.99;2.1;2.19;1.99;1.75;1.75;1.97	4.79	3.77	0.43336	.	0.240925	0.28371	N	0.015592	T	0.13841	0.0335	N	0.14661	0.345	0.80722	D	1	B;B;B;B;B;B;B	0.30236	0.146;0.146;0.003;0.228;0.274;0.146;0.146	B;B;B;B;B;B;B	0.30179	0.026;0.026;0.002;0.083;0.112;0.026;0.026	T	0.10590	-1.0623	10	0.18276	T	0.48	.	10.3982	0.44214	0.1652:0.0:0.8348:0.0	.	243;243;16;243;243;243;243	B7ZLJ8;B7ZLJ6;B0QYH4;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;.;SE6L1_HUMAN	I	243;243;243;243;243;16;16	ENSP00000384772:M243I;ENSP00000437037:M243I;ENSP00000354185:M243I;ENSP00000248933:M243I;ENSP00000342661:M243I;ENSP00000384838:M16I;ENSP00000384733:M16I	ENSP00000248933:M243I	M	+	3	0	SEZ6L	25019006	0.636000	0.27207	0.978000	0.43139	0.670000	0.39368	0.682000	0.25335	1.147000	0.42369	0.405000	0.27470	ATG	SEZ6L	-	NULL	ENSG00000100095		0.637	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEZ6L	HGNC	protein_coding	OTTHUMT00000320359.3	24	0.00	0	G			26689006	26689006	+1	no_errors	ENST00000248933	ensembl	human	known	69_37n	missense	33	32.00	16	SNP	0.899	T
SF3B1	23451	genome.wustl.edu	37	2	198270046	198270046	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:198270046G>A	ENST00000335508.6	-	10	1481	c.1390C>T	c.(1390-1392)Ctt>Ttt	p.L464F	SF3B1_ENST00000462613.1_5'Flank|SNORA4_ENST00000365564.1_RNA	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	464	Interaction with PPP1R8.				anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AAAAATGGAAGATTTCCAGAT	0.348			Mis		myelodysplastic syndrome																																	dbGAP		Dom	yes		2	2q33.1	23451	"""splicing factor 3b, subunit 1, 155kDa"""		L	0													52.0	55.0	54.0					2																	198270046		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.1390C>T	2.37:g.198270046G>A	ENSP00000335321:p.Leu464Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PCH3	Missense_Mutation	SNP	pfam_SF3b_su1,superfamily_ARM-type_fold	p.L464F	ENST00000335508.6	37	c.1390	CCDS33356.1	2	.	.	.	.	.	.	.	.	.	.	G	27.6	4.845138	0.91197	.	.	ENSG00000115524	ENST00000335508	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.86883	0.6040	M	0.93854	3.465	0.80722	D	1	D	0.63880	0.993	D	0.71414	0.973	D	0.89775	0.3957	9	0.87932	D	0	.	19.6287	0.95691	0.0:0.0:1.0:0.0	.	464	O75533	SF3B1_HUMAN	F	464	.	ENSP00000335321:L464F	L	-	1	0	SF3B1	197978291	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.665000	0.98609	2.710000	0.92621	0.655000	0.94253	CTT	SF3B1	-	NULL	ENSG00000115524		0.348	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B1	HGNC	protein_coding	OTTHUMT00000335245.2	55	0.00	0	G			198270046	198270046	-1	no_errors	ENST00000335508	ensembl	human	known	69_37n	missense	44	33.33	22	SNP	1.000	A
SF3B1	23451	genome.wustl.edu	37	2	198273151	198273151	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:198273151C>G	ENST00000335508.6	-	8	1150	c.1059G>C	c.(1057-1059)ctG>ctC	p.L353L		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	353	Interaction with PPP1R8.				anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TTCCAGGGGTCAGAACTGGAG	0.468			Mis		myelodysplastic syndrome																																	dbGAP		Dom	yes		2	2q33.1	23451	"""splicing factor 3b, subunit 1, 155kDa"""		L	0													114.0	110.0	112.0					2																	198273151		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.1059G>C	2.37:g.198273151C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	E9PCH3	Silent	SNP	pfam_SF3b_su1,superfamily_ARM-type_fold	p.L353	ENST00000335508.6	37	c.1059	CCDS33356.1	2																																																																																			SF3B1	-	pfam_SF3b_su1	ENSG00000115524		0.468	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B1	HGNC	protein_coding	OTTHUMT00000335245.2	102	0.00	0	C			198273151	198273151	-1	no_errors	ENST00000335508	ensembl	human	known	69_37n	silent	76	17.39	16	SNP	1.000	G
SF3B2	10992	genome.wustl.edu	37	11	65835430	65835430	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:65835430C>T	ENST00000322535.6	+	20	2393	c.2344C>T	c.(2344-2346)Cag>Tag	p.Q782*	PACS1_ENST00000320580.4_5'Flank|SF3B2_ENST00000528302.1_Nonsense_Mutation_p.Q765*|RP11-1167A19.2_ENST00000529036.1_Intron	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	782					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						TGAGACACCTCAGCTCTTCAC	0.512											OREG0021094	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													134.0	134.0	134.0					11																	65835430		2201	4295	6496	-	-	-	SO:0001587	stop_gained	0			U41371	CCDS31612.1	11q13	2010-07-21	2002-08-29		ENSG00000087365	ENSG00000087365			10769	protein-coding gene	gene with protein product		605591	"""splicing factor 3b, subunit 2, 145kD"""			8566756	Standard	XM_005273726		Approved	SAP145, SF3b1, Cus1, SF3b145	uc001ogy.1	Q13435	OTTHUMG00000166751	ENST00000322535.6:c.2344C>T	11.37:g.65835430C>T	ENSP00000318861:p.Gln782*	Somatic	1087	WXS	Illumina GAIIx	Phase_IV	A8K485|B4DT19|Q7L4T5|Q7Z627|Q969K1|Q96CM6|Q9BWD2	Nonsense_Mutation	SNP	pfam_DUF382,pfam_PSP,pfam_SAP_DNA-bd,smart_SAP_DNA-bd,smart_PSP,pfscan_SAP_DNA-bd	p.Q782*	ENST00000322535.6	37	c.2344	CCDS31612.1	11	.	.	.	.	.	.	.	.	.	.	C	39	7.716241	0.98450	.	.	ENSG00000087365	ENST00000528302;ENST00000322535;ENST00000355456	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-32.1402	17.4726	0.87650	0.0:1.0:0.0:0.0	.	.	.	.	X	765;782;686	.	ENSP00000318861:Q782X	Q	+	1	0	SF3B2	65592006	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.416000	0.80143	2.719000	0.93026	0.555000	0.69702	CAG	SF3B2	-	NULL	ENSG00000087365		0.512	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B2	HGNC	protein_coding	OTTHUMT00000391352.2	99	0.00	0	C			65835430	65835430	+1	no_errors	ENST00000322535	ensembl	human	known	69_37n	nonsense	94	16.81	19	SNP	1.000	T
SF3B3	23450	genome.wustl.edu	37	16	70595653	70595653	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:70595653G>C	ENST00000302516.5	+	17	2465	c.2254G>C	c.(2254-2256)Gag>Cag	p.E752Q		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	752					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				ACAGTGTCCCGAGGGCATTGT	0.527																																						dbGAP											0													146.0	120.0	129.0					16																	70595653		2198	4300	6498	-	-	-	SO:0001583	missense	0			AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"""splicing factor 3b, subunit 3, 130kD"""			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.2254G>C	16.37:g.70595653G>C	ENSP00000305790:p.Glu752Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Missense_Mutation	SNP	pfam_Cleavage/polyA-sp_fac_asu_C,superfamily_WD40_repeat_dom	p.E752Q	ENST00000302516.5	37	c.2254	CCDS10894.1	16	.	.	.	.	.	.	.	.	.	.	G	34	5.401037	0.96030	.	.	ENSG00000189091	ENST00000302516	T	0.35605	1.3	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.68888	0.3050	M	0.90309	3.105	0.80722	D	1	D	0.67145	0.996	D	0.69824	0.966	T	0.73157	-0.4071	10	0.59425	D	0.04	-17.3127	20.2982	0.98569	0.0:0.0:1.0:0.0	.	752	Q15393	SF3B3_HUMAN	Q	752	ENSP00000305790:E752Q	ENSP00000305790:E752Q	E	+	1	0	SF3B3	69153154	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.751000	0.98889	2.873000	0.98535	0.563000	0.77884	GAG	SF3B3	-	superfamily_WD40_repeat_dom	ENSG00000189091		0.527	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B3	HGNC	protein_coding	OTTHUMT00000268972.1	67	0.00	0	G	NM_012426		70595653	70595653	+1	no_errors	ENST00000302516	ensembl	human	known	69_37n	missense	73	19.78	18	SNP	1.000	C
SFMBT1	51460	genome.wustl.edu	37	3	52964402	52964402	+	Missense_Mutation	SNP	T	T	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:52964402T>A	ENST00000394752.3	-	8	1222	c.840A>T	c.(838-840)aaA>aaT	p.K280N	SFMBT1_ENST00000394750.1_Missense_Mutation_p.K280N|SFMBT1_ENST00000296295.6_Missense_Mutation_p.K280N|SFMBT1_ENST00000358080.2_Missense_Mutation_p.K280N	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	280					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|negative regulation of muscle organ development (GO:0048635)|negative regulation of transcription, DNA-templated (GO:0045892)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		CAGCTTCCAATTTCATGTTTA	0.398																																						dbGAP											0													93.0	94.0	94.0					3																	52964402		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF168132	CCDS2867.1	3p21.31	2013-01-10			ENSG00000163935	ENSG00000163935		"""Sterile alpha motif (SAM) domain containing"""	20255	protein-coding gene	gene with protein product		607319				10661410	Standard	NM_016329		Approved	RU1, DKFZp434L243, SFMBT	uc003dgh.3	Q9UHJ3	OTTHUMG00000159052	ENST00000394752.3:c.840A>T	3.37:g.52964402T>A	ENSP00000378235:p.Lys280Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q402F7|Q96C73|Q9Y4Q9	Missense_Mutation	SNP	pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt	p.K280N	ENST00000394752.3	37	c.840	CCDS2867.1	3	.	.	.	.	.	.	.	.	.	.	T	23.2	4.387937	0.82902	.	.	ENSG00000163935	ENST00000394752;ENST00000358080;ENST00000296295;ENST00000394750	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	6.16	-1.48	0.08745	.	0.000000	0.85682	D	0.000000	T	0.67344	0.2883	M	0.92122	3.275	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.81914	0.994;0.995	T	0.73636	-0.3920	10	0.87932	D	0	.	12.5708	0.56337	0.0:0.4814:0.0:0.5186	.	280;280	Q9UHJ3-2;Q9UHJ3	.;SMBT1_HUMAN	N	280	ENSP00000378235:K280N;ENSP00000350789:K280N;ENSP00000296295:K280N;ENSP00000378233:K280N	ENSP00000296295:K280N	K	-	3	2	SFMBT1	52939442	1.000000	0.71417	0.993000	0.49108	0.957000	0.61999	0.640000	0.24705	-0.231000	0.09825	0.528000	0.53228	AAA	SFMBT1	-	pfam_Mbt,smart_Mbt,pfscan_Mbt	ENSG00000163935		0.398	SFMBT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFMBT1	HGNC	protein_coding	OTTHUMT00000353040.3	61	0.00	0	T	NM_016329		52964402	52964402	-1	no_errors	ENST00000358080	ensembl	human	known	69_37n	missense	51	31.08	23	SNP	0.992	A
SFMBT2	57713	genome.wustl.edu	37	10	7212905	7212905	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:7212905C>G	ENST00000361972.4	-	20	2619	c.2529G>C	c.(2527-2529)aaG>aaC	p.K843N	SFMBT2_ENST00000397167.1_Missense_Mutation_p.K843N	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	843	SAM.				negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)			NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CCTGAAATATCTTGGCCAAGG	0.552																																						dbGAP											0													239.0	190.0	206.0					10																	7212905		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.2529G>C	10.37:g.7212905C>G	ENSP00000355109:p.Lys843Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MD09|Q9HCF5	Missense_Mutation	SNP	pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,superfamily_ARM-type_fold,smart_Mbt,smart_SAM,pfscan_Mbt	p.K843N	ENST00000361972.4	37	c.2529	CCDS31138.1	10	.	.	.	.	.	.	.	.	.	.	C	12.67	2.006232	0.35415	.	.	ENSG00000198879	ENST00000361972;ENST00000397167	T;T	0.50001	0.76;0.76	5.1	1.76	0.24704	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.098149	0.64402	D	0.000002	T	0.48333	0.1494	L	0.28740	0.885	0.80722	D	1	D	0.65815	0.995	D	0.75020	0.985	T	0.32640	-0.9899	10	0.29301	T	0.29	.	6.58	0.22588	0.0:0.435:0.0:0.565	.	843	Q5VUG0	SMBT2_HUMAN	N	843	ENSP00000355109:K843N;ENSP00000380353:K843N	ENSP00000355109:K843N	K	-	3	2	SFMBT2	7252911	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	0.991000	0.29654	0.145000	0.18977	0.561000	0.74099	AAG	SFMBT2	-	pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,smart_SAM	ENSG00000198879		0.552	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFMBT2	HGNC	protein_coding	OTTHUMT00000046673.1	94	0.00	0	C	NM_001029880		7212905	7212905	-1	no_errors	ENST00000361972	ensembl	human	known	69_37n	missense	79	17.71	17	SNP	1.000	G
SFN	2810	genome.wustl.edu	37	1	27189721	27189721	+	Silent	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:27189721G>T	ENST00000339276.4	+	1	89	c.18G>T	c.(16-18)ctG>ctT	p.L6L		NM_006142.3	NP_006133.1	Q9Y3B8	ORN_HUMAN	stratifin	0					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide metabolic process (GO:0009117)	focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	9		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		GAGCCAGTCTGATCCAGAAGG	0.632																																						dbGAP											0													51.0	57.0	55.0					1																	27189721		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC023552	CCDS288.1	1p36.11	2008-02-05			ENSG00000175793	ENSG00000175793			10773	protein-coding gene	gene with protein product	"""14-3-3 sigma"""	601290				8515476	Standard	NM_006142		Approved	YWHAS	uc001bnc.1	P31947	OTTHUMG00000004093	ENST00000339276.4:c.18G>T	1.37:g.27189721G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R532|Q32Q18|Q53FT1|Q6FIC6|Q9UFY7	Silent	SNP	pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3	p.L6	ENST00000339276.4	37	c.18	CCDS288.1	1																																																																																			SFN	-	pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3	ENSG00000175793		0.632	SFN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFN	HGNC	protein_coding	OTTHUMT00000011709.1	31	0.00	0	G	NM_006142		27189721	27189721	+1	no_errors	ENST00000339276	ensembl	human	known	69_37n	silent	19	20.83	5	SNP	1.000	T
SFN	2810	genome.wustl.edu	37	1	27190072	27190072	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:27190072G>T	ENST00000339276.4	+	1	440	c.369G>T	c.(367-369)atG>atT	p.M123I		NM_006142.3	NP_006133.1	Q9Y3B8	ORN_HUMAN	stratifin	0	Exonuclease.				nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide metabolic process (GO:0009117)	focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	9		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		ACCTGAAGATGAAGGGTGACT	0.637																																						dbGAP											0													63.0	71.0	68.0					1																	27190072		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC023552	CCDS288.1	1p36.11	2008-02-05			ENSG00000175793	ENSG00000175793			10773	protein-coding gene	gene with protein product	"""14-3-3 sigma"""	601290				8515476	Standard	NM_006142		Approved	YWHAS	uc001bnc.1	P31947	OTTHUMG00000004093	ENST00000339276.4:c.369G>T	1.37:g.27190072G>T	ENSP00000340989:p.Met123Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R532|Q32Q18|Q53FT1|Q6FIC6|Q9UFY7	Missense_Mutation	SNP	pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3	p.M123I	ENST00000339276.4	37	c.369	CCDS288.1	1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.949573	0.92660	.	.	ENSG00000175793	ENST00000339276;ENST00000538651	T	0.50813	0.73	5.96	5.96	0.96718	14-3-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.78698	0.4324	M	0.93420	3.415	0.46542	D	0.999098	D	0.89917	1.0	D	0.97110	1.0	T	0.83241	-0.0058	10	0.87932	D	0	-35.2384	20.0032	0.97426	0.0:0.0:1.0:0.0	.	123	P31947	1433S_HUMAN	I	123;91	ENSP00000340989:M123I	ENSP00000340989:M123I	M	+	3	0	SFN	27062659	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.864000	0.99589	2.813000	0.96785	0.655000	0.94253	ATG	SFN	-	pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3	ENSG00000175793		0.637	SFN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFN	HGNC	protein_coding	OTTHUMT00000011709.1	51	0.00	0	G	NM_006142		27190072	27190072	+1	no_errors	ENST00000339276	ensembl	human	known	69_37n	missense	36	32.08	17	SNP	1.000	T
SFR1	119392	genome.wustl.edu	37	10	105885303	105885303	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:105885303G>C	ENST00000369727.3	+	4	598	c.579G>C	c.(577-579)aaG>aaC	p.K193N	SFR1_ENST00000369729.3_Missense_Mutation_p.K180N|SFR1_ENST00000336358.5_Missense_Mutation_p.K255N	NM_001002759.1	NP_001002759.1	Q86XK3	SFR1_HUMAN	SWI5-dependent recombination repair 1	193					double-strand break repair via homologous recombination (GO:0000724)	nucleus (GO:0005634)|Swi5-Sfr1 complex (GO:0032798)											TGTTAATAAAGAAGTGGAGAA	0.353																																						dbGAP											0													84.0	84.0	84.0					10																	105885303		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC020892	CCDS31279.1, CCDS31280.1	10q25.1	2013-10-11	2011-08-01	2011-08-01	ENSG00000156384	ENSG00000156384			29574	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 78"", ""MEI5 recombination repair protein homolog (S. cerevisiae)"""	C10orf78, MEIR5		21252223, 21779174, 20976249	Standard	NM_145247		Approved	MEI5, bA373N18.1, FLJ41960	uc001kxu.3	Q86XK3	OTTHUMG00000019000	ENST00000369727.3:c.579G>C	10.37:g.105885303G>C	ENSP00000358742:p.Lys193Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K569|B2RTV8|Q5JT39|Q5JT40|Q8WW47	Missense_Mutation	SNP	pfam_Ds-recomb_repair_prot_Mei5	p.K255N	ENST00000369727.3	37	c.765	CCDS31279.1	10	.	.	.	.	.	.	.	.	.	.	G	12.72	2.021997	0.35701	.	.	ENSG00000156384	ENST00000369729;ENST00000369727;ENST00000336358	T;T;T	0.49139	0.83;0.83;0.79	5.28	2.45	0.29901	.	0.534966	0.21054	N	0.080954	T	0.48241	0.1489	L	0.53249	1.67	0.28896	N	0.893556	P;P	0.51147	0.919;0.942	P;P	0.51777	0.587;0.679	T	0.38520	-0.9657	10	0.29301	T	0.29	-7.8392	8.1124	0.30922	0.3638:0.0:0.6362:0.0	.	255;193	Q86XK3-2;Q86XK3	.;SFR1_HUMAN	N	180;193;255	ENSP00000358744:K180N;ENSP00000358742:K193N;ENSP00000338089:K255N	ENSP00000338089:K255N	K	+	3	2	SFR1	105875293	0.974000	0.33945	1.000000	0.80357	0.998000	0.95712	0.202000	0.17295	0.892000	0.36259	0.650000	0.86243	AAG	SFR1	-	pfam_Ds-recomb_repair_prot_Mei5	ENSG00000156384		0.353	SFR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SFR1	HGNC	protein_coding	OTTHUMT00000050191.1	106	0.00	0	G	NM_145247		105885303	105885303	+1	no_errors	ENST00000336358	ensembl	human	known	69_37n	missense	52	37.35	31	SNP	0.996	C
SFRP1	6422	genome.wustl.edu	37	8	41122839	41122839	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:41122839G>A	ENST00000220772.3	-	3	1129	c.792C>T	c.(790-792)ctC>ctT	p.L264L	SFRP1_ENST00000379845.3_Silent_p.L128L	NM_003012.4	NP_003003.3	Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1	264	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				bone trabecula formation (GO:0060346)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to BMP stimulus (GO:0071773)|cellular response to estradiol stimulus (GO:0071392)|cellular response to estrogen stimulus (GO:0071391)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to prostaglandin E stimulus (GO:0071380)|cellular response to starvation (GO:0009267)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vitamin D (GO:0071305)|cellular response to X-ray (GO:0071481)|convergent extension involved in somitogenesis (GO:0090246)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral axis specification (GO:0009950)|female gonad development (GO:0008585)|gonad development (GO:0008406)|hematopoietic progenitor cell differentiation (GO:0002244)|hematopoietic stem cell differentiation (GO:0060218)|male gonad development (GO:0008584)|menstrual cycle phase (GO:0022601)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of bone remodeling (GO:0046851)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation (GO:2000080)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|negative regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000054)|neural crest cell fate commitment (GO:0014034)|neural tube closure (GO:0001843)|osteoblast differentiation (GO:0001649)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of non-canonical Wnt signaling pathway (GO:2000052)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|proteolysis (GO:0006508)|regulation of angiogenesis (GO:0045765)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell cycle process (GO:0010564)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|somatic stem cell maintenance (GO:0035019)|stromal-epithelial cell signaling involved in prostate gland development (GO:0044345)|ureteric bud development (GO:0001657)|vasculature development (GO:0001944)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cysteine-type endopeptidase activity (GO:0004197)|drug binding (GO:0008144)|frizzled binding (GO:0005109)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			AGTGGTGGCTGAGGTTGTCCA	0.532																																						dbGAP											0													137.0	118.0	124.0					8																	41122839		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF017987	CCDS34886.1	8p11.21	2006-12-15			ENSG00000104332	ENSG00000104332		"""Secreted frizzled-related proteins"""	10776	protein-coding gene	gene with protein product		604156				9391078, 9192640	Standard	NM_003012		Approved	SARP2, FRP, FRP-1	uc003xnt.3	Q8N474	OTTHUMG00000164074	ENST00000220772.3:c.792C>T	8.37:g.41122839G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O00546|O14779	Silent	SNP	pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain	p.L264	ENST00000220772.3	37	c.792	CCDS34886.1	8																																																																																			SFRP1	-	pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,smart_Netrin_module_non-TIMP,pfscan_Netrin_domain	ENSG00000104332		0.532	SFRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFRP1	HGNC	protein_coding	OTTHUMT00000377132.1	149	0.00	0	G	NM_003012		41122839	41122839	-1	no_errors	ENST00000220772	ensembl	human	known	69_37n	silent	35	42.62	26	SNP	0.969	A
SFTPB	6439	genome.wustl.edu	37	2	85892442	85892442	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:85892442C>G	ENST00000519937.2	-	6	661	c.642G>C	c.(640-642)ctG>ctC	p.L214L	SFTPB_ENST00000342375.3_Silent_p.L214L|SFTPB_ENST00000409383.1_Silent_p.L226L|SFTPB_ENST00000393822.3_Silent_p.L226L			P07988	PSPB_HUMAN	surfactant protein B	214	Saposin B-type 2. {ECO:0000255|PROSITE- ProRule:PRU00415}.				organ morphogenesis (GO:0009887)|respiratory gaseous exchange (GO:0007585)|sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|lysosome (GO:0005764)				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						TCCGCTTGATCAGAGCCCTGC	0.602																																						dbGAP											0													115.0	118.0	117.0					2																	85892442		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			J02761	CCDS1983.1, CCDS1983.2	2p12-p11.2	2008-08-26	2008-08-26		ENSG00000168878	ENSG00000168878			10801	protein-coding gene	gene with protein product		178640	"""surfactant, pulmonary-associated protein B"""	SFTP3		2924687, 1346779	Standard	NM_198843		Approved	SP-B	uc002sqh.3	P07988	OTTHUMG00000130181	ENST00000519937.2:c.642G>C	2.37:g.85892442C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96R04	Missense_Mutation	SNP	pfam_SapB_2,pfam_SapA,pfam_SapB_1,superfamily_Saposin-like,smart_SapA,smart_SaposinB,prints_Saposin,pfscan_SapA,pfscan_SaposinB	p.D211H	ENST00000519937.2	37	c.631		2	.	.	.	.	.	.	.	.	.	.	C	2.522	-0.310535	0.05458	.	.	ENSG00000168878	ENST00000428225	.	.	.	4.98	-1.08	0.09936	.	.	.	.	.	T	0.20536	0.0494	.	.	.	0.21147	N	0.999773	.	.	.	.	.	.	T	0.24657	-1.0154	4	.	.	.	-8.4014	2.3553	0.04294	0.1363:0.4191:0.2688:0.1758	.	.	.	.	H	211	.	.	D	-	1	0	SFTPB	85745953	0.022000	0.18835	0.116000	0.21606	0.545000	0.35147	-0.161000	0.10026	-0.112000	0.11979	0.561000	0.74099	GAT	SFTPB	-	superfamily_Saposin-like,smart_SaposinB,pfscan_SaposinB	ENSG00000168878		0.602	SFTPB-001	KNOWN	alternative_3_UTR|basic|appris_principal	protein_coding	SFTPB	HGNC	protein_coding	OTTHUMT00000252499.3	38	0.00	0	C	NM_198843		85892442	85892442	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000428225	ensembl	human	novel	69_37n	missense	47	22.95	14	SNP	0.005	G
SGCD	6444	genome.wustl.edu	37	5	155935695	155935695	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:155935695G>C	ENST00000435422.3	+	3	761	c.274G>C	c.(274-276)Gaa>Caa	p.E92Q	SGCD_ENST00000447401.1_Missense_Mutation_p.E93Q|SGCD_ENST00000337851.4_Missense_Mutation_p.E93Q|SGCD_ENST00000517913.1_Missense_Mutation_p.E93Q	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	92					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTACGCCAAAGAAATCCAGTC	0.423																																						dbGAP											0			GRCh37	CM003618	SGCD	M							91.0	82.0	85.0					5																	155935695		1853	4106	5959	-	-	-	SO:0001583	missense	0			BX537948	CCDS47325.1, CCDS47326.1, CCDS47327.1	5q33-q34	2014-09-17	2002-08-29						10807	protein-coding gene	gene with protein product		601411	"""sarcoglycan, delta (35kD dystrophin-associated glycoprotein)"""			8776597, 8841194, 10974018	Standard	NM_000337		Approved	DAGD, LGMD2F, CMD1L	uc003lwd.4	Q92629		ENST00000435422.3:c.274G>C	5.37:g.155935695G>C	ENSP00000403003:p.Glu92Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9S9|Q53XA5|Q99644	Missense_Mutation	SNP	pfam_Sarcoglycan	p.E93Q	ENST00000435422.3	37	c.277	CCDS47327.1	5	.	.	.	.	.	.	.	.	.	.	G	25.2	4.612342	0.87258	.	.	ENSG00000170624	ENST00000517913;ENST00000435422;ENST00000337851;ENST00000447401	D;D;D;D	0.95103	-3.61;-3.61;-3.61;-3.61	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.96494	0.8856	M	0.64997	1.995	0.80722	D	1	D;D;D	0.71674	0.991;0.989;0.998	D;D;D	0.80764	0.982;0.969;0.994	D	0.95217	0.8330	10	0.32370	T	0.25	-5.6686	17.9142	0.88944	0.0:0.0:1.0:0.0	.	92;93;93	Q92629;Q92629-2;Q92629-3	SGCD_HUMAN;.;.	Q	93;92;93;93	ENSP00000429378:E93Q;ENSP00000403003:E92Q;ENSP00000338343:E93Q;ENSP00000408324:E93Q	ENSP00000338343:E93Q	E	+	1	0	SGCD	155868273	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.338000	0.96553	2.732000	0.93576	0.585000	0.79938	GAA	SGCD	-	pfam_Sarcoglycan	ENSG00000170624		0.423	SGCD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SGCD	HGNC	protein_coding	OTTHUMT00000373469.3	102	0.00	0	G			155935695	155935695	+1	no_errors	ENST00000337851	ensembl	human	known	69_37n	missense	59	19.18	14	SNP	1.000	C
SGCE	8910	genome.wustl.edu	37	7	94257670	94257670	+	Splice_Site	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:94257670G>A	ENST00000265735.7	-	3	344	c.234C>T	c.(232-234)ggC>ggT	p.G78G	SGCE_ENST00000428696.2_Splice_Site_p.G78G|SGCE_ENST00000437425.2_Splice_Site_p.G37G|SGCE_ENST00000415788.2_Splice_Site_p.G114G|SGCE_ENST00000445866.2_Splice_Site_p.G78G|SGCE_ENST00000447873.1_Splice_Site_p.G78G	NM_003919.2	NP_003910.1	O43556	SGCE_HUMAN	sarcoglycan, epsilon	78				G -> S (in Ref. 3; AAM64204). {ECO:0000305}.	cell-matrix adhesion (GO:0007160)|muscle organ development (GO:0007517)	cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|dystrophin-associated glycoprotein complex (GO:0016010)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)	calcium ion binding (GO:0005509)	p.G78G(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TACTAATCTCGCCTAGATAAG	0.333																																						dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											54.0	53.0	53.0					7																	94257670		2203	4299	6502	-	-	-	SO:0001630	splice_region_variant	0			AF036364	CCDS5637.1, CCDS47642.1, CCDS47643.1, CCDS75634.1	7q21.3	2014-09-17			ENSG00000127990	ENSG00000127990			10808	protein-coding gene	gene with protein product		604149		DYT11		9475163, 9405466	Standard	NM_001099401		Approved		uc003unn.2	O43556	OTTHUMG00000022828	ENST00000265735.7:c.233-1C>T	7.37:g.94257670G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8N2|D6W5Q8|E9PF60|G5E9K6|Q6L8P0|Q75MH8|Q8NFG8|Q8WW28	Silent	SNP	pfam_Sarcoglycan_2,superfamily_Cadherin-like,smart_Cadg	p.G78	ENST00000265735.7	37	c.234	CCDS5637.1	7																																																																																			SGCE	-	pfam_Sarcoglycan_2,superfamily_Cadherin-like,smart_Cadg	ENSG00000127990		0.333	SGCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGCE	HGNC	protein_coding	OTTHUMT00000255251.2	66	0.00	0	G		Silent	94257670	94257670	-1	no_errors	ENST00000445866	ensembl	human	known	69_37n	silent	57	16.18	11	SNP	0.872	A
SGCG	6445	genome.wustl.edu	37	13	23777859	23777859	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr13:23777859C>G	ENST00000218867.3	+	2	150	c.26C>G	c.(25-27)gCc>gGc	p.A9G	SGCG_ENST00000545013.1_Missense_Mutation_p.A9G|SGCG_ENST00000537476.1_Missense_Mutation_p.A9G	NM_000231.2	NP_000222	Q13326	SGCG_HUMAN	sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)	9					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		TACACTACAGCCACAGAAGGC	0.468																																						dbGAP											0													162.0	132.0	142.0					13																	23777859		2203	4299	6502	-	-	-	SO:0001583	missense	0			U34976	CCDS9299.1	13q12-q13	2014-09-17	2002-08-29		ENSG00000102683	ENSG00000102683			10809	protein-coding gene	gene with protein product	"""Maghrebian myopathy (autosomal recessive)"", ""35kD dystrophin-associated glycoprotein"", ""limb girdle muscular dystrophy 2C (Duchenne-like muscular dystrophy, autosomal recessive)"", ""gamma sarcoglycan"""	608896	"""sarcoglycan, gamma (35kD dystrophin-associated glycoprotein)"""	DMDA1, MAM, LGMD2C		8968757	Standard	NM_000231		Approved	SCARMD2, DAGA4, SCG3, DMDA, TYPE, A4, MGC130048	uc001uom.2	Q13326	OTTHUMG00000016563	ENST00000218867.3:c.26C>G	13.37:g.23777859C>G	ENSP00000218867:p.Ala9Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q32M32|Q5T9J6	Missense_Mutation	SNP	pfam_Sarcoglycan	p.A9G	ENST00000218867.3	37	c.26	CCDS9299.1	13	.	.	.	.	.	.	.	.	.	.	C	14.37	2.515279	0.44763	.	.	ENSG00000102683	ENST00000218867;ENST00000537476;ENST00000545013	D;D;D	0.87256	-2.23;-2.23;-2.23	5.35	4.51	0.55191	.	0.521138	0.23678	N	0.045651	D	0.82870	0.5131	L	0.46157	1.445	0.25163	N	0.990334	B	0.12630	0.006	B	0.14023	0.01	T	0.70182	-0.4942	10	0.30854	T	0.27	-15.6212	14.0325	0.64624	0.0:0.9271:0.0:0.0729	.	9	Q13326	SGCG_HUMAN	G	9	ENSP00000218867:A9G;ENSP00000444100:A9G;ENSP00000442232:A9G	ENSP00000218867:A9G	A	+	2	0	SGCG	22675859	0.101000	0.21875	0.788000	0.31933	0.788000	0.44548	2.776000	0.47709	1.270000	0.44297	0.655000	0.94253	GCC	SGCG	-	NULL	ENSG00000102683		0.468	SGCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGCG	HGNC	protein_coding	OTTHUMT00000044151.1	106	0.00	0	C	NM_000231		23777859	23777859	+1	no_errors	ENST00000218867	ensembl	human	known	69_37n	missense	50	53.27	57	SNP	0.984	G
SGSM1	129049	genome.wustl.edu	37	22	25250979	25250979	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:25250979G>A	ENST00000400359.4	+	6	479	c.472G>A	c.(472-474)Gaa>Aaa	p.E158K	SGSM1_ENST00000400358.4_Missense_Mutation_p.E158K	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	158	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.					Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						CTATGAGAAGGAAGCTCTCCT	0.502																																						dbGAP											0													98.0	96.0	97.0					22																	25250979		1972	4159	6131	-	-	-	SO:0001583	missense	0			AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"""Small G protein signaling modulators"""	29410	protein-coding gene	gene with protein product		611417	"""RUN and TBC1 domain containing 2"""	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.472G>A	22.37:g.25250979G>A	ENSP00000383212:p.Glu158Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Missense_Mutation	SNP	pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom	p.E158K	ENST00000400359.4	37	c.472	CCDS46674.1	22	.	.	.	.	.	.	.	.	.	.	G	33	5.194783	0.94960	.	.	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	T;T	0.32023	1.47;1.47	4.58	4.58	0.56647	RUN (3);	0.048685	0.85682	D	0.000000	T	0.59169	0.2174	M	0.83483	2.645	0.80722	D	1	B;B;D;D;P	0.76494	0.361;0.415;0.997;0.999;0.77	B;B;D;D;B	0.72338	0.121;0.192;0.977;0.963;0.242	T	0.66933	-0.5798	10	0.72032	D	0.01	-1.7956	16.7639	0.85519	0.0:0.0:1.0:0.0	.	158;133;291;158;133	Q2NKQ1-4;C9J7S8;Q2NKQ1-3;Q2NKQ1;B9A6J4	.;.;.;SGSM1_HUMAN;.	K	133;158;158	ENSP00000383211:E158K;ENSP00000383212:E158K	ENSP00000383211:E158K	E	+	1	0	SGSM1	23580979	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	9.730000	0.98797	2.264000	0.75181	0.579000	0.79373	GAA	SGSM1	-	pfam_Run,smart_Run,pfscan_Run	ENSG00000167037		0.502	SGSM1-004	KNOWN	basic|CCDS	protein_coding	SGSM1	HGNC	protein_coding	OTTHUMT00000320282.1	129	0.00	0	G	XM_059318		25250979	25250979	+1	no_errors	ENST00000400359	ensembl	human	known	69_37n	missense	85	50.86	89	SNP	1.000	A
SGSM1	129049	genome.wustl.edu	37	22	25313624	25313624	+	Splice_Site	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:25313624G>C	ENST00000400359.4	+	24	3100		c.e24-1		SGSM1_ENST00000400358.4_Splice_Site	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1							Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						TTCCTTGACAGATCCTGGACT	0.507																																						dbGAP											0													109.0	104.0	106.0					22																	25313624		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"""Small G protein signaling modulators"""	29410	protein-coding gene	gene with protein product		611417	"""RUN and TBC1 domain containing 2"""	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.3094-1G>C	22.37:g.25313624G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Splice_Site	SNP	-	e24-1	ENST00000400359.4	37	c.3094-1	CCDS46674.1	22	.	.	.	.	.	.	.	.	.	.	G	20.6	4.014610	0.75161	.	.	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	.	.	.	4.79	4.79	0.61399	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3756	0.87391	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SGSM1	23643624	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	9.547000	0.98100	2.657000	0.90304	0.655000	0.94253	.	SGSM1	-	-	ENSG00000167037		0.507	SGSM1-004	KNOWN	basic|CCDS	protein_coding	SGSM1	HGNC	protein_coding	OTTHUMT00000320282.1	104	0.00	0	G	XM_059318	Intron	25313624	25313624	+1	no_errors	ENST00000400359	ensembl	human	known	69_37n	splice_site	161	17.44	34	SNP	1.000	C
SGSM3	27352	genome.wustl.edu	37	22	40801715	40801715	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:40801715C>T	ENST00000248929.9	+	8	870	c.681C>T	c.(679-681)atC>atT	p.I227I	SGSM3_ENST00000454798.2_Silent_p.I160I	NM_015705.4	NP_056520.2			small G protein signaling modulator 3											cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						TGTCTGCCATCATCGAGGACC	0.642																																						dbGAP											0													118.0	122.0	121.0					22																	40801715		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL022238	CCDS14002.1	22q13.1-q13.2	2013-07-09	2007-08-14	2007-08-14	ENSG00000100359	ENSG00000100359		"""Small G protein signaling modulators"""	25228	protein-coding gene	gene with protein product	"""RUN and SH3 containing 3"""	610440	"""RUN and TBC1 domain containing 3"""	RUTBC3		11214971, 17509819	Standard	XM_005261572		Approved	DJ1042K10.2, RUSC3, RabGAP-5, RABGAP5	uc003ayu.1	Q96HU1	OTTHUMG00000151141	ENST00000248929.9:c.681C>T	22.37:g.40801715C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Rab-GTPase-TBC_dom,pfam_Run,pfam_SH3_domain,pfam_SH3_2,superfamily_Rab-GTPase-TBC_dom,superfamily_SH3_domain,smart_Rab-GTPase-TBC_dom,smart_SH3_domain,smart_Run,pfscan_Run,pfscan_SH3_domain,pfscan_Rab-GTPase-TBC_dom	p.I227	ENST00000248929.9	37	c.681	CCDS14002.1	22																																																																																			SGSM3	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000100359		0.642	SGSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGSM3	HGNC	protein_coding	OTTHUMT00000321504.2	26	0.00	0	C	NM_015705		40801715	40801715	+1	no_errors	ENST00000248929	ensembl	human	known	69_37n	silent	52	17.46	11	SNP	1.000	T
SGSM3	27352	genome.wustl.edu	37	22	40802612	40802612	+	Silent	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:40802612C>A	ENST00000248929.9	+	10	1320	c.1131C>A	c.(1129-1131)ctC>ctA	p.L377L	SGSM3_ENST00000454798.2_Silent_p.L310L	NM_015705.4	NP_056520.2			small G protein signaling modulator 3											cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						TGGCCTATCTCATTGCAGACC	0.692																																						dbGAP											0													20.0	24.0	22.0					22																	40802612		2202	4297	6499	-	-	-	SO:0001819	synonymous_variant	0			AL022238	CCDS14002.1	22q13.1-q13.2	2013-07-09	2007-08-14	2007-08-14	ENSG00000100359	ENSG00000100359		"""Small G protein signaling modulators"""	25228	protein-coding gene	gene with protein product	"""RUN and SH3 containing 3"""	610440	"""RUN and TBC1 domain containing 3"""	RUTBC3		11214971, 17509819	Standard	XM_005261572		Approved	DJ1042K10.2, RUSC3, RabGAP-5, RABGAP5	uc003ayu.1	Q96HU1	OTTHUMG00000151141	ENST00000248929.9:c.1131C>A	22.37:g.40802612C>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Rab-GTPase-TBC_dom,pfam_Run,pfam_SH3_domain,pfam_SH3_2,superfamily_Rab-GTPase-TBC_dom,superfamily_SH3_domain,smart_Rab-GTPase-TBC_dom,smart_SH3_domain,smart_Run,pfscan_Run,pfscan_SH3_domain,pfscan_Rab-GTPase-TBC_dom	p.L377	ENST00000248929.9	37	c.1131	CCDS14002.1	22																																																																																			SGSM3	-	NULL	ENSG00000100359		0.692	SGSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGSM3	HGNC	protein_coding	OTTHUMT00000321504.2	19	0.00	0	C	NM_015705		40802612	40802612	+1	no_errors	ENST00000248929	ensembl	human	known	69_37n	silent	17	39.29	11	SNP	1.000	A
SH2B1	25970	genome.wustl.edu	37	16	28878735	28878735	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:28878735G>C	ENST00000322610.8	+	5	1462	c.1023G>C	c.(1021-1023)gaG>gaC	p.E341D	SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000337120.5_Missense_Mutation_p.E341D|SH2B1_ENST00000359285.5_Missense_Mutation_p.E341D|SH2B1_ENST00000395532.4_Missense_Mutation_p.E341D|SH2B1_ENST00000545570.1_Missense_Mutation_p.E31D|SH2B1_ENST00000538342.1_Missense_Mutation_p.E5D			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	341	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation). {ECO:0000250}.|PH.				blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.E341D(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						CTGACCGGGAGAACACGTTTG	0.567																																						dbGAP											2	Substitution - Missense(2)	kidney(2)											159.0	160.0	159.0					16																	28878735		2197	4300	6497	-	-	-	SO:0001583	missense	0			AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	30417	protein-coding gene	gene with protein product	"""SH2-B homolog"""	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2		ENST00000322610.8:c.1023G>C	16.37:g.28878735G>C	ENSP00000321221:p.Glu341Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Missense_Mutation	SNP	pfam_Phe_ZIP,pfam_Pleckstrin_homology,pfam_SH2,superfamily_Phe_ZIP,smart_Pleckstrin_homology,smart_SH2,prints_SH2,pfscan_SH2	p.E341D	ENST00000322610.8	37	c.1023	CCDS53996.1	16	.	.	.	.	.	.	.	.	.	.	G	9.660	1.143887	0.21205	.	.	ENSG00000178188	ENST00000322610;ENST00000545570;ENST00000359285;ENST00000538342;ENST00000395532;ENST00000337120	T;T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34;1.34	4.28	0.943	0.19531	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.162980	0.37761	N	0.001959	T	0.26159	0.0638	N	0.17838	0.53	0.39679	D	0.970876	B;B;B;B;B	0.29646	0.008;0.253;0.038;0.038;0.035	B;B;B;B;B	0.42692	0.008;0.395;0.028;0.028;0.037	T	0.07046	-1.0793	10	0.29301	T	0.29	-31.4209	5.7137	0.17948	0.195:0.2812:0.5239:0.0	.	5;31;341;341;341	B4DLN5;F5GXU7;Q9NRF2-2;Q9NRF2-3;Q9NRF2	.;.;.;.;SH2B1_HUMAN	D	341;31;341;5;341;341	ENSP00000321221:E341D;ENSP00000440354:E31D;ENSP00000352232:E341D;ENSP00000438784:E5D;ENSP00000378903:E341D;ENSP00000337163:E341D	ENSP00000321221:E341D	E	+	3	2	SH2B1	28786236	0.858000	0.29795	1.000000	0.80357	0.975000	0.68041	-0.140000	0.10342	0.909000	0.36697	0.563000	0.77884	GAG	SH2B1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology	ENSG00000178188		0.567	SH2B1-001	KNOWN	basic|CCDS	protein_coding	SH2B1	HGNC	protein_coding	OTTHUMT00000432666.1	83	0.00	0	G	NM_015503		28878735	28878735	+1	no_errors	ENST00000322610	ensembl	human	known	69_37n	missense	71	20.22	18	SNP	1.000	C
SH2D2A	9047	genome.wustl.edu	37	1	156784028	156784028	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:156784028C>T	ENST00000368199.3	-	4	520	c.367G>A	c.(367-369)Gag>Aag	p.E123K	NTRK1_ENST00000392302.2_5'Flank|SH2D2A_ENST00000392306.2_Missense_Mutation_p.E133K|SH2D2A_ENST00000495306.1_5'Flank|SH2D2A_ENST00000368198.3_Missense_Mutation_p.E105K	NM_001161443.1|NM_001161444.1|NM_003975.3	NP_001154915.1|NP_001154916.1|NP_003966.2	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	123	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ACCGCGCTCTCGCTGAACCGC	0.692																																						dbGAP											0													33.0	33.0	33.0					1																	156784028		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ000553	CCDS1159.1, CCDS53380.1, CCDS53381.1	1q21	2013-02-14	2010-04-21		ENSG00000027869	ENSG00000027869		"""SH2 domain containing"""	10821	protein-coding gene	gene with protein product	"""T lymphocyte specific adaptor protein"", ""T cell specific adapter protein TSAd"", ""T cell specific adpater protein TSAd"""	604514	"""SH2 domain protein 2A"""			9468509	Standard	NM_003975		Approved	TSAd, F2771	uc009wsh.2	Q9NP31	OTTHUMG00000041305	ENST00000368199.3:c.367G>A	1.37:g.156784028C>T	ENSP00000357182:p.Glu123Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O43817|Q5UBZ1|Q5VZS4|Q5VZS5|Q9UPA7	Missense_Mutation	SNP	pfam_SH2,smart_SH2,pfscan_SH2	p.E133K	ENST00000368199.3	37	c.397	CCDS1159.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.511459	0.96402	.	.	ENSG00000027869	ENST00000368199;ENST00000368198;ENST00000392306	D;D;D	0.97279	-4.32;-4.32;-4.32	4.64	4.64	0.57946	SH2 motif (5);	0.119294	0.56097	D	0.000031	D	0.98235	0.9416	M	0.82323	2.585	0.47374	D	0.999405	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.99;0.999;0.994	D	0.98802	1.0740	10	0.72032	D	0.01	-26.0201	14.764	0.69626	0.0:1.0:0.0:0.0	.	133;105;123	Q9NP31-2;Q5VZS4;Q9NP31	.;.;SH22A_HUMAN	K	123;105;133	ENSP00000357182:E123K;ENSP00000357181:E105K;ENSP00000376123:E133K	ENSP00000357181:E105K	E	-	1	0	SH2D2A	155050652	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.941000	0.56607	2.572000	0.86782	0.556000	0.70494	GAG	SH2D2A	-	pfam_SH2,smart_SH2,pfscan_SH2	ENSG00000027869		0.692	SH2D2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SH2D2A	HGNC	protein_coding	OTTHUMT00000098982.1	11	0.00	0	C	NM_003975		156784028	156784028	-1	no_errors	ENST00000392306	ensembl	human	known	69_37n	missense	11	35.29	6	SNP	1.000	T
SH2D3A	10045	genome.wustl.edu	37	19	6754078	6754078	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:6754078G>C	ENST00000245908.6	-	8	1638	c.1369C>G	c.(1369-1371)Ctg>Gtg	p.L457V	CTD-3128G10.6_ENST00000594056.1_RNA|SH2D3A_ENST00000599563.1_5'Flank|SH2D3A_ENST00000437152.3_Missense_Mutation_p.L364V	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	457					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						CCCTCATCCAGAGCCCGCATC	0.622																																						dbGAP											0													30.0	37.0	35.0					19																	6754078		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF124249	CCDS12173.1	19p13.3	2013-02-14	2002-01-14			ENSG00000125731		"""SH2 domain containing"""	16885	protein-coding gene	gene with protein product		604721	"""SH2 domain-containing 3A"""			10187783	Standard	NM_005490		Approved	NSP1	uc002mft.3	Q9BRG2		ENST00000245908.6:c.1369C>G	19.37:g.6754078G>C	ENSP00000245908:p.Leu457Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9R6|B4DRS7|Q9Y2X4	Missense_Mutation	SNP	pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,prints_SH2	p.L457V	ENST00000245908.6	37	c.1369	CCDS12173.1	19	.	.	.	.	.	.	.	.	.	.	G	15.76	2.929145	0.52759	.	.	ENSG00000125731	ENST00000245908;ENST00000437152	T;T	0.50548	1.81;0.74	4.61	2.41	0.29592	Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.33180	N	0.005199	T	0.60728	0.2291	M	0.69358	2.11	0.34612	D	0.717713	D;D	0.76494	0.998;0.999	D;D	0.87578	0.996;0.998	T	0.69018	-0.5256	10	0.87932	D	0	-5.884	6.6758	0.23093	0.2212:0.0:0.7788:0.0	.	364;457	B4DRS7;Q9BRG2	.;SH23A_HUMAN	V	457;364	ENSP00000245908:L457V;ENSP00000393303:L364V	ENSP00000245908:L457V	L	-	1	2	SH2D3A	6705078	0.607000	0.26958	0.991000	0.47740	0.686000	0.39977	0.814000	0.27239	0.910000	0.36722	0.467000	0.42956	CTG	SH2D3A	-	superfamily_Ras_GEF_dom,smart_RasGRF_CDC25	ENSG00000125731		0.622	SH2D3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH2D3A	HGNC	protein_coding	OTTHUMT00000458016.1	27	0.00	0	G	NM_005490		6754078	6754078	-1	no_errors	ENST00000245908	ensembl	human	known	69_37n	missense	27	28.95	11	SNP	0.946	C
SH2D3C	10044	genome.wustl.edu	37	9	130501096	130501096	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:130501096C>A	ENST00000314830.8	-	12	2625	c.2512G>T	c.(2512-2514)Gag>Tag	p.E838*	SH2D3C_ENST00000373274.3_Nonsense_Mutation_p.E678*|SH2D3C_ENST00000429553.1_Nonsense_Mutation_p.E484*|SH2D3C_ENST00000373277.4_Nonsense_Mutation_p.E681*|SH2D3C_ENST00000373276.3_Nonsense_Mutation_p.E770*|SH2D3C_ENST00000420366.1_Nonsense_Mutation_p.E680*	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	838	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TCGAACTTCTCATAGCGCCGG	0.652																																						dbGAP											0													61.0	50.0	53.0					9																	130501096		2202	4300	6502	-	-	-	SO:0001587	stop_gained	0			AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370		"""SH2 domain containing"""	16884	protein-coding gene	gene with protein product		604722	"""SH2 domain-containing 3C"""			10187783	Standard	NM_170600		Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.2512G>T	9.37:g.130501096C>A	ENSP00000317817:p.Glu838*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Nonsense_Mutation	SNP	pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,pfscan_RasGRF_CDC25	p.E838*	ENST00000314830.8	37	c.2512	CCDS6877.1	9	.	.	.	.	.	.	.	.	.	.	C	38	7.052528	0.98029	.	.	ENSG00000095370	ENST00000373277;ENST00000420366;ENST00000373276;ENST00000373274;ENST00000429553;ENST00000314830	.	.	.	5.76	4.84	0.62591	.	0.134244	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-10.5531	9.1515	0.36967	0.0:0.7756:0.1483:0.0761	.	.	.	.	X	681;680;770;678;484;838	.	ENSP00000317817:E838X	E	-	1	0	SH2D3C	129540917	0.947000	0.32204	0.988000	0.46212	0.898000	0.52572	2.683000	0.46943	1.373000	0.46208	0.655000	0.94253	GAG	SH2D3C	-	smart_RasGRF_CDC25,pfscan_RasGRF_CDC25	ENSG00000095370		0.652	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SH2D3C	HGNC	protein_coding	OTTHUMT00000054264.1	35	0.00	0	C	NM_005489		130501096	130501096	-1	no_errors	ENST00000314830	ensembl	human	known	69_37n	nonsense	47	14.29	8	SNP	1.000	A
SH3BP4	23677	genome.wustl.edu	37	2	235949651	235949651	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:235949651G>A	ENST00000409212.1	+	4	745	c.238G>A	c.(238-240)Gac>Aac	p.D80N	SH3BP4_ENST00000392011.2_Missense_Mutation_p.D80N|SH3BP4_ENST00000344528.4_Missense_Mutation_p.D80N			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	80	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		CTCCAAGGGCGACCATCTCTA	0.532																																						dbGAP											0													146.0	132.0	137.0					2																	235949651		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.238G>A	2.37:g.235949651G>A	ENSP00000386862:p.Asp80Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O95082|Q309A3|Q53QD0|Q53TD1	Missense_Mutation	SNP	pfam_SH3_2,pfam_SH3_domain,pfam_ZU5,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.D80N	ENST00000409212.1	37	c.238	CCDS2513.1	2	.	.	.	.	.	.	.	.	.	.	G	25.8	4.671755	0.88348	.	.	ENSG00000130147	ENST00000392011;ENST00000420127;ENST00000416021;ENST00000409212;ENST00000344528;ENST00000446904	T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04	5.44	5.44	0.79542	Src homology-3 domain (4);	0.045899	0.85682	D	0.000000	D	0.82453	0.5040	M	0.88775	2.98	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.70487	0.969;0.969	D	0.85847	0.1401	10	0.87932	D	0	-3.5427	17.8307	0.88682	0.0:0.0:1.0:0.0	.	80;80	A8K594;Q9P0V3	.;SH3B4_HUMAN	N	80	ENSP00000375867:D80N;ENSP00000403251:D80N;ENSP00000386862:D80N;ENSP00000340237:D80N;ENSP00000415391:D80N	ENSP00000340237:D80N	D	+	1	0	SH3BP4	235614390	1.000000	0.71417	0.964000	0.40570	0.349000	0.29174	9.549000	0.98106	2.549000	0.85964	0.655000	0.94253	GAC	SH3BP4	-	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000130147		0.532	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SH3BP4	HGNC	protein_coding	OTTHUMT00000329763.1	69	0.00	0	G			235949651	235949651	+1	no_errors	ENST00000344528	ensembl	human	known	69_37n	missense	85	17.48	18	SNP	1.000	A
SH3GLB1	51100	genome.wustl.edu	37	1	87208822	87208822	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:87208822G>C	ENST00000370558.4	+	9	1326	c.1002G>C	c.(1000-1002)gtG>gtC	p.V334V	SH3GLB1_ENST00000482504.1_Silent_p.V355V|SH3GLB1_ENST00000535010.1_Silent_p.V234V	NM_001206651.1|NM_001206653.1|NM_016009.4	NP_001193580.1|NP_001193582.1|NP_057093.1	Q9Y371	SHLB1_HUMAN	SH3-domain GRB2-like endophilin B1	334	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				'de novo' posttranslational protein folding (GO:0051084)|apoptotic process (GO:0006915)|phosphatidic acid biosynthetic process (GO:0006654)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial outer membrane (GO:0005741)|protein complex (GO:0043234)	fatty acid binding (GO:0005504)|identical protein binding (GO:0042802)|lysophosphatidic acid acyltransferase activity (GO:0042171)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|stomach(1)	11		Lung NSC(277;0.209)		all cancers(265;0.0136)|Epithelial(280;0.0414)		TGATCACTGTGTTCAGTGTTG	0.343																																						dbGAP											0													178.0	175.0	176.0					1																	87208822		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF263293	CCDS710.1, CCDS55612.1, CCDS55613.1, CCDS72819.1	1p22.3	2012-04-17	2001-12-04		ENSG00000097033	ENSG00000097033		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	10833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 70"""	609287	"""SH3-domain, GRB2-like, endophilin B1"""			11161816, 11259440	Standard	NM_016009		Approved	CGI-61, KIAA0491, Bif-1, PPP1R70	uc001dly.3	Q9Y371	OTTHUMG00000010257	ENST00000370558.4:c.1002G>C	1.37:g.87208822G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E182|Q5H8U5|Q9H3Z0|Q9NR47|Q9NYA9	Silent	SNP	pfam_BAR_dom,pfam_BAR_dom-cont,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain	p.V355	ENST00000370558.4	37	c.1065	CCDS710.1	1																																																																																			SH3GLB1	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000097033		0.343	SH3GLB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3GLB1	HGNC	protein_coding	OTTHUMT00000028287.2	183	0.00	0	G	NM_016009		87208822	87208822	+1	no_errors	ENST00000482504	ensembl	human	known	69_37n	silent	110	25.17	37	SNP	0.997	C
SH3PXD2B	285590	genome.wustl.edu	37	5	171774304	171774304	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:171774304G>A	ENST00000311601.5	-	11	1215	c.1045C>T	c.(1045-1047)Cgc>Tgc	p.R349C	SH3PXD2B_ENST00000519643.1_Missense_Mutation_p.R349C	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	349					adipose tissue development (GO:0060612)|bone development (GO:0060348)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|eye development (GO:0001654)|heart development (GO:0007507)|podosome assembly (GO:0071800)|positive regulation of fat cell differentiation (GO:0045600)|protein localization to membrane (GO:0072657)|skeletal system development (GO:0001501)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|SH2 domain binding (GO:0042169)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ATGTCCCGGCGAGGAGGGGGT	0.562																																						dbGAP											0													104.0	90.0	95.0					5																	171774304		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK095834	CCDS34291.1	5q35.2	2008-02-05	2006-02-13	2006-02-13	ENSG00000174705	ENSG00000174705			29242	protein-coding gene	gene with protein product		613293	"""KIAA1295"""	KIAA1295		10718198	Standard	NM_001017995		Approved	FLJ20831	uc003mbr.3	A1X283	OTTHUMG00000163280	ENST00000311601.5:c.1045C>T	5.37:g.171774304G>A	ENSP00000309714:p.Arg349Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B6F0V2|Q9P2Q1	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Phox,pfam_SH3-like_bac,pfam_DUF1058,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain	p.R349C	ENST00000311601.5	37	c.1045	CCDS34291.1	5	.	.	.	.	.	.	.	.	.	.	G	24.3	4.518448	0.85495	.	.	ENSG00000174705	ENST00000519643;ENST00000311601	T;T	0.66995	0.15;-0.24	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.81059	0.4744	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.82957	-0.0199	10	0.87932	D	0	-22.1635	16.6849	0.85302	0.0:0.0:1.0:0.0	.	349	A1X283	SPD2B_HUMAN	C	349	ENSP00000430890:R349C;ENSP00000309714:R349C	ENSP00000309714:R349C	R	-	1	0	SH3PXD2B	171706909	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.942000	0.92970	2.601000	0.87937	0.561000	0.74099	CGC	SH3PXD2B	-	NULL	ENSG00000174705		0.562	SH3PXD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3PXD2B	HGNC	protein_coding	OTTHUMT00000372449.1	68	0.00	0	G	NM_017963		171774304	171774304	-1	no_errors	ENST00000311601	ensembl	human	known	69_37n	missense	42	17.65	9	SNP	1.000	A
SHANK1	50944	genome.wustl.edu	37	19	51190856	51190856	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:51190856G>C	ENST00000293441.1	-	18	2390	c.2372C>G	c.(2371-2373)tCa>tGa	p.S791*	SHANK1_ENST00000359082.3_Nonsense_Mutation_p.S782*|SHANK1_ENST00000391813.1_Nonsense_Mutation_p.S178*|SHANK1_ENST00000391814.1_Nonsense_Mutation_p.S791*	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	791					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CTCCAGCTCTGAGGTCATAGA	0.627																																						dbGAP											0													22.0	20.0	21.0					19																	51190856		2027	3857	5884	-	-	-	SO:0001587	stop_gained	0			AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.2372C>G	19.37:g.51190856G>C	ENSP00000293441:p.Ser791*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MXP5|B7WNY6|Q9NYW9	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SH3_2,pfam_SAM_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SH3_domain,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.S791*	ENST00000293441.1	37	c.2372	CCDS12799.1	19	.	.	.	.	.	.	.	.	.	.	G	42	9.214980	0.99103	.	.	ENSG00000161681	ENST00000293441;ENST00000391813;ENST00000359082;ENST00000391814	.	.	.	3.45	3.45	0.39498	.	0.000000	0.56097	U	0.000029	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-9.0962	14.2061	0.65734	0.0:0.0:1.0:0.0	.	.	.	.	X	791;178;782;791	.	ENSP00000293441:S791X	S	-	2	0	SHANK1	55882668	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	8.336000	0.90033	1.957000	0.56846	0.289000	0.19496	TCA	SHANK1	-	NULL	ENSG00000161681		0.627	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHANK1	HGNC	protein_coding	OTTHUMT00000268071.1	18	0.00	0	G	NM_016148		51190856	51190856	-1	no_errors	ENST00000391814	ensembl	human	known	69_37n	nonsense	15	25.00	5	SNP	1.000	C
SHANK3	85358	genome.wustl.edu	37	22	51160355	51160355	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:51160355C>G	ENST00000414786.2	+	21	4279	c.4052C>G	c.(4051-4053)tCc>tGc	p.S1351C	SHANK3_ENST00000445220.2_Missense_Mutation_p.S1367C|SHANK3_ENST00000262795.3_Missense_Mutation_p.S1381C			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	1365					adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		ACACGCAGCTCCAGCGACCCC	0.667																																						dbGAP											0													19.0	23.0	21.0					22																	51160355		2089	4182	6271	-	-	-	SO:0001583	missense	0			AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14294	protein-coding gene	gene with protein product	"""proline rich synapse associated protein 2"", ""shank postsynaptic density protein"""	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000414786.2:c.4052C>G	22.37:g.51160355C>G	ENSP00000464552:p.Ser1351Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	D7UT47|Q8TET3	Missense_Mutation	SNP	pfam_SAM_type1,pfam_Ankyrin_rpt,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.S1381C	ENST00000414786.2	37	c.4142		22	.	.	.	.	.	.	.	.	.	.	C	14.45	2.540243	0.45176	.	.	ENSG00000251322	ENST00000262795;ENST00000445220	T;T	0.20598	2.06;2.06	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.42359	0.1199	M	0.81497	2.545	0.28940	N	0.891022	P;D;B	0.64830	0.59;0.994;0.417	B;P;B	0.54460	0.22;0.753;0.052	T	0.47898	-0.9081	10	0.87932	D	0	.	16.0382	0.80645	0.0:1.0:0.0:0.0	.	1365;1366;1381	D7UT47;Q9BYB0;F2Z3L0	.;SHAN3_HUMAN;.	C	1381;1367	ENSP00000442518:S1381C;ENSP00000446078:S1367C	ENSP00000442518:S1381C	S	+	2	0	SHANK3	49507221	1.000000	0.71417	1.000000	0.80357	0.608000	0.37181	4.036000	0.57304	2.381000	0.81170	0.462000	0.41574	TCC	SHANK3	-	NULL	ENSG00000251322		0.667	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	SHANK3	HGNC	protein_coding	OTTHUMT00000316674.2	13	0.00	0	C	NM_001080420		51160355	51160355	+1	no_errors	ENST00000262795	ensembl	human	known	69_37n	missense	10	41.18	7	SNP	1.000	G
SHC1	6464	genome.wustl.edu	37	1	154942698	154942698	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:154942698G>C	ENST00000368445.5	-	1	519	c.305C>G	c.(304-306)tCa>tGa	p.S102*	SHC1_ENST00000368450.1_Intron|SHC1_ENST00000368453.4_Intron|SHC1_ENST00000448116.2_Nonsense_Mutation_p.S102*|SHC1_ENST00000606391.1_Intron|SHC1_ENST00000368449.4_Intron	NM_183001.4	NP_892113.4	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	102					actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|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)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|Ras protein signal transduction (GO:0007265)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of growth (GO:0040008)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|Shc-EGFR complex (GO:0070435)	ephrin receptor binding (GO:0046875)|epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phospholipid binding (GO:0005543)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TAGGGGGCCTGAGTCTGGCAT	0.697																																					NSCLC(4;32 234 1864 2492 3259 13747 17376)	dbGAP											0													27.0	32.0	30.0					1																	154942698		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U73377	CCDS1076.1, CCDS30881.1, CCDS44233.1, CCDS44234.1	1q21	2013-02-14	2002-01-14		ENSG00000160691	ENSG00000160691		"""SH2 domain containing"""	10840	protein-coding gene	gene with protein product		600560	"""SHC (Src homology 2 domain-containing) transforming protein 1"""	SHC		1623525	Standard	NM_003029		Approved	p66	uc001ffw.3	P29353	OTTHUMG00000037295	ENST00000368445.5:c.305C>G	1.37:g.154942698G>C	ENSP00000357430:p.Ser102*	Somatic		WXS	Illumina GAIIx	Phase_IV	B5BU19|D3DV78|O15290|Q5T180|Q5T183|Q5T184|Q5T185|Q5T186|Q8N4K5|Q96CL1	Nonsense_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.S102*	ENST00000368445.5	37	c.305	CCDS30881.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.571365	0.96553	.	.	ENSG00000160691	ENST00000368445;ENST00000448116;ENST00000368443	.	.	.	4.57	4.57	0.56435	.	0.264188	0.31450	N	0.007623	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	12.7778	0.57459	0.0:0.1661:0.8339:0.0	.	.	.	.	X	102;102;38	.	ENSP00000357428:S38X	S	-	2	0	SHC1	153209322	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	2.887000	0.48586	2.371000	0.80710	0.555000	0.69702	TCA	SHC1	-	NULL	ENSG00000160691		0.697	SHC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SHC1	HGNC	protein_coding	OTTHUMT00000090781.2	23	0.00	0	G	NM_183001		154942698	154942698	-1	no_errors	ENST00000448116	ensembl	human	known	69_37n	nonsense	20	35.48	11	SNP	1.000	C
SHC4	399694	genome.wustl.edu	37	15	49143415	49143415	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:49143415C>T	ENST00000332408.4	-	9	1701	c.1273G>A	c.(1273-1275)Gag>Aag	p.E425K	SHC4_ENST00000396535.3_Missense_Mutation_p.E182K|SHC4_ENST00000537958.1_Missense_Mutation_p.E139K	NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	425	CH1.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of cell proliferation (GO:0008284)|regulation of gene expression (GO:0010468)|stem cell differentiation (GO:0048863)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		AAACAGTTCTCATATACACTG	0.388																																						dbGAP											0													187.0	135.0	153.0					15																	49143415		2197	4295	6492	-	-	-	SO:0001583	missense	0			AY358250	CCDS10130.1	15q21.1-q21.2	2013-02-14			ENSG00000185634	ENSG00000185634		"""SH2 domain containing"""	16743	protein-coding gene	gene with protein product	"""rai-like protein"""						Standard	NM_203349		Approved	RaLP	uc001zxb.1	Q6S5L8	OTTHUMG00000131513	ENST00000332408.4:c.1273G>A	15.37:g.49143415C>T	ENSP00000329668:p.Glu425Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UXQ3|Q8IYW3	Missense_Mutation	SNP	pfam_PTyr_interaction_dom,pfam_SH2,smart_PTyr_interaction_dom,smart_SH2,prints_PID_domain,prints_SH2,pfscan_PTyr_interaction_dom,pfscan_SH2	p.E425K	ENST00000332408.4	37	c.1273	CCDS10130.1	15	.	.	.	.	.	.	.	.	.	.	C	14.70	2.613204	0.46631	.	.	ENSG00000185634	ENST00000332408;ENST00000396535;ENST00000537958	T;T;T	0.31769	3.45;1.48;1.51	5.12	4.19	0.49359	.	0.082693	0.49916	N	0.000126	T	0.12178	0.0296	N	0.02011	-0.69	0.33643	D	0.607506	B;B	0.11235	0.004;0.001	B;B	0.15052	0.012;0.002	T	0.10660	-1.0620	10	0.29301	T	0.29	-20.6922	10.5359	0.45004	0.0:0.9047:0.0:0.0953	.	182;425	Q6S5L8-2;Q6S5L8	.;SHC4_HUMAN	K	425;182;139	ENSP00000329668:E425K;ENSP00000379786:E182K;ENSP00000443300:E139K	ENSP00000329668:E425K	E	-	1	0	SHC4	46930707	0.990000	0.36364	0.869000	0.34112	0.987000	0.75469	2.886000	0.48578	1.351000	0.45789	0.637000	0.83480	GAG	SHC4	-	NULL	ENSG00000185634		0.388	SHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHC4	HGNC	protein_coding	OTTHUMT00000254371.1	123	0.00	0	C	NM_203349		49143415	49143415	-1	no_errors	ENST00000332408	ensembl	human	known	69_37n	missense	89	18.18	20	SNP	0.960	T
SHC4	399694	genome.wustl.edu	37	15	49254971	49254971	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:49254971G>C	ENST00000332408.4	-	1	670	c.242C>G	c.(241-243)aCc>aGc	p.T81S		NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	81	CH2.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of cell proliferation (GO:0008284)|regulation of gene expression (GO:0010468)|stem cell differentiation (GO:0048863)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		GCACAGTGGGGTGGGGCTCTC	0.637																																						dbGAP											0													42.0	45.0	44.0					15																	49254971		2196	4295	6491	-	-	-	SO:0001583	missense	0			AY358250	CCDS10130.1	15q21.1-q21.2	2013-02-14			ENSG00000185634	ENSG00000185634		"""SH2 domain containing"""	16743	protein-coding gene	gene with protein product	"""rai-like protein"""						Standard	NM_203349		Approved	RaLP	uc001zxb.1	Q6S5L8	OTTHUMG00000131513	ENST00000332408.4:c.242C>G	15.37:g.49254971G>C	ENSP00000329668:p.Thr81Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UXQ3|Q8IYW3	Missense_Mutation	SNP	pfam_PTyr_interaction_dom,pfam_SH2,smart_PTyr_interaction_dom,smart_SH2,prints_PID_domain,prints_SH2,pfscan_PTyr_interaction_dom,pfscan_SH2	p.T81S	ENST00000332408.4	37	c.242	CCDS10130.1	15	.	.	.	.	.	.	.	.	.	.	G	15.83	2.949404	0.53186	.	.	ENSG00000185634	ENST00000332408	T	0.50813	0.73	4.91	4.91	0.64330	.	0.089564	0.47093	D	0.000248	T	0.48642	0.1511	M	0.65975	2.015	0.80722	D	1	P	0.52463	0.953	P	0.47603	0.551	T	0.48536	-0.9027	10	0.40728	T	0.16	-21.3792	7.5484	0.27781	0.0841:0.0:0.7494:0.1665	.	81	Q6S5L8	SHC4_HUMAN	S	81	ENSP00000329668:T81S	ENSP00000329668:T81S	T	-	2	0	SHC4	47042263	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	2.762000	0.47597	2.543000	0.85770	0.655000	0.94253	ACC	SHC4	-	NULL	ENSG00000185634		0.637	SHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHC4	HGNC	protein_coding	OTTHUMT00000254371.1	20	0.00	0	G	NM_203349		49254971	49254971	-1	no_errors	ENST00000332408	ensembl	human	known	69_37n	missense	16	36.00	9	SNP	0.998	C
SHCBP1L	81626	genome.wustl.edu	37	1	182920488	182920488	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:182920488C>G	ENST00000367547.3	-	2	756	c.520G>C	c.(520-522)Gaa>Caa	p.E174Q	SHCBP1L_ENST00000488956.1_5'UTR|SHCBP1L_ENST00000423786.1_Missense_Mutation_p.E55Q	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN	SHC SH2-domain binding protein 1-like	246										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						ATAGAAGCTTCTTCATATTTC	0.299																																						dbGAP											0													56.0	59.0	58.0					1																	182920488		2202	4294	6496	-	-	-	SO:0001583	missense	0			AF288397	CCDS30955.1	1q25	2011-01-24	2011-01-24	2011-01-24	ENSG00000157060	ENSG00000157060			16788	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 14"""	C1orf14		11318611	Standard	NM_030933		Approved		uc001gpu.3	Q9BZQ2	OTTHUMG00000035419	ENST00000367547.3:c.520G>C	1.37:g.182920488C>G	ENSP00000356518:p.Glu174Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G195|Q9BZQ3|Q9H2B6	Missense_Mutation	SNP	superfamily_Pectin_lyase_fold/virulence,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1	p.E174Q	ENST00000367547.3	37	c.520	CCDS30955.1	1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.464400	0.63513	.	.	ENSG00000157060	ENST00000367547;ENST00000287709;ENST00000423786	T;T	0.56611	0.64;0.45	5.58	5.58	0.84498	.	0.189095	0.37304	N	0.002154	T	0.68081	0.2962	L	0.51422	1.61	0.35554	D	0.804155	D;D	0.89917	0.998;1.0	D;D	0.85130	0.994;0.997	T	0.75391	-0.3334	10	0.66056	D	0.02	-30.6719	16.4915	0.84202	0.0:1.0:0.0:0.0	.	55;174	Q9BZQ2-2;Q9BZQ2-3	.;.	Q	174;243;55	ENSP00000356518:E174Q;ENSP00000397308:E55Q	ENSP00000287709:E243Q	E	-	1	0	SHCBP1L	181187111	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	2.732000	0.47352	2.618000	0.88619	0.655000	0.94253	GAA	SHCBP1L	-	NULL	ENSG00000157060		0.299	SHCBP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHCBP1L	HGNC	protein_coding	OTTHUMT00000085956.1	69	0.00	0	C	NM_030933		182920488	182920488	-1	no_errors	ENST00000367547	ensembl	human	known	69_37n	missense	64	22.89	19	SNP	1.000	G
SHOC2	8036	genome.wustl.edu	37	10	112769570	112769570	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:112769570C>T	ENST00000369452.4	+	8	1867	c.1522C>T	c.(1522-1524)Cac>Tac	p.H508Y	SHOC2_ENST00000265277.5_Missense_Mutation_p.H462Y|SHOC2_ENST00000489390.1_3'UTR	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	508					fibroblast growth factor receptor signaling pathway (GO:0008543)|positive regulation of Ras protein signal transduction (GO:0046579)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase binding (GO:0019903)|protein phosphatase regulator activity (GO:0019888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		CCTACTTACTCACCTTCCTGA	0.398																																						dbGAP											0													102.0	90.0	94.0					10																	112769570		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020669	CCDS7568.1, CCDS58095.1	10q25	2014-09-17	2001-11-28		ENSG00000108061	ENSG00000108061			15454	protein-coding gene	gene with protein product		602775	"""soc-2 (suppressor of clear, C.elegans) homolog"""			9618511, 9674433, 10783161	Standard	NM_007373		Approved	KIAA0862, SOC2, SUR-8, SOC-2, SUR8	uc001kzl.4	Q9UQ13	OTTHUMG00000019047	ENST00000369452.4:c.1522C>T	10.37:g.112769570C>T	ENSP00000358464:p.His508Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9W8|B3KR23|O76063|Q5VZS8|Q5VZS9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.H508Y	ENST00000369452.4	37	c.1522	CCDS7568.1	10	.	.	.	.	.	.	.	.	.	.	C	7.319	0.616513	0.14129	.	.	ENSG00000108061	ENST00000265277;ENST00000369452;ENST00000451838	T;T;T	0.58358	0.34;0.34;0.34	5.75	5.75	0.90469	.	0.087086	0.85682	D	0.000000	T	0.39462	0.1079	N	0.16656	0.425	0.80722	D	1	B;B	0.25105	0.118;0.0	B;B	0.31751	0.135;0.003	T	0.28299	-1.0048	10	0.02654	T	1	.	19.9281	0.97110	0.0:1.0:0.0:0.0	.	462;508	Q9UQ13-2;Q9UQ13	.;SHOC2_HUMAN	Y	462;508;298	ENSP00000265277:H462Y;ENSP00000358464:H508Y;ENSP00000408275:H298Y	ENSP00000265277:H462Y	H	+	1	0	SHOC2	112759560	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.018000	0.70811	2.708000	0.92522	0.585000	0.79938	CAC	SHOC2	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000108061		0.398	SHOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHOC2	HGNC	protein_coding	OTTHUMT00000050355.1	62	0.00	0	C	NM_007373		112769570	112769570	+1	no_errors	ENST00000369452	ensembl	human	known	69_37n	missense	21	36.36	12	SNP	1.000	T
SHPRH	257218	genome.wustl.edu	37	6	146275931	146275931	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:146275931C>T	ENST00000367505.2	-	2	792	c.528G>A	c.(526-528)ctG>ctA	p.L176L	SHPRH_ENST00000367503.3_Silent_p.L176L|SHPRH_ENST00000438092.2_Silent_p.L176L|SHPRH_ENST00000275233.7_Silent_p.L176L			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	176					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		ATGACTCCACCAGAATACCCT	0.368																																						dbGAP											0													117.0	109.0	111.0					6																	146275931		1832	4093	5925	-	-	-	SO:0001819	synonymous_variant	0			AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.528G>A	6.37:g.146275931C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Silent	SNP	pfam_SNF2_N,pfam_Histone_H1/H5,superfamily_Znf_FYVE_PHD,superfamily_WW_Rsp5_WWP,smart_Helicase_ATP-bd,smart_Histone_H1/H5,smart_Znf_PHD,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_C	p.L176	ENST00000367505.2	37	c.528	CCDS43513.2	6																																																																																			SHPRH	-	NULL	ENSG00000146414		0.368	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SHPRH	HGNC	protein_coding	OTTHUMT00000042571.2	124	0.00	0	C	NM_173082		146275931	146275931	-1	no_errors	ENST00000367503	ensembl	human	known	69_37n	silent	95	26.92	35	SNP	0.618	T
SHPRH	257218	genome.wustl.edu	37	6	146276419	146276419	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:146276419C>T	ENST00000367505.2	-	2	304	c.40G>A	c.(40-42)Gat>Aat	p.D14N	SHPRH_ENST00000367503.3_Missense_Mutation_p.D14N|SHPRH_ENST00000438092.2_Missense_Mutation_p.D14N|SHPRH_ENST00000275233.7_Missense_Mutation_p.D14N			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	14					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TTTTCCTCATCTACCCTCACT	0.473																																						dbGAP											0													118.0	115.0	116.0					6																	146276419		1956	4165	6121	-	-	-	SO:0001583	missense	0			AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.40G>A	6.37:g.146276419C>T	ENSP00000356475:p.Asp14Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Histone_H1/H5,superfamily_Znf_FYVE_PHD,superfamily_WW_Rsp5_WWP,smart_Helicase_ATP-bd,smart_Histone_H1/H5,smart_Znf_PHD,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_C	p.D14N	ENST00000367505.2	37	c.40	CCDS43513.2	6	.	.	.	.	.	.	.	.	.	.	C	17.48	3.399310	0.62177	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233;ENST00000444767	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000001	T	0.44350	0.1289	L	0.59436	1.845	0.44388	D	0.997298	B;B;B	0.33448	0.412;0.061;0.102	B;B;B	0.32583	0.148;0.024;0.054	T	0.52510	-0.8566	10	0.48119	T	0.1	-28.7114	10.2142	0.43158	0.0:0.8529:0.0:0.1471	.	14;14;14	Q149N8-2;Q149N8;Q149N8-4	.;SHPRH_HUMAN;.	N	14	ENSP00000356475:D14N;ENSP00000356473:D14N;ENSP00000412797:D14N;ENSP00000275233:D14N	ENSP00000275233:D14N	D	-	1	0	SHPRH	146318112	0.998000	0.40836	0.962000	0.40283	0.984000	0.73092	3.834000	0.55798	2.672000	0.90937	0.655000	0.94253	GAT	SHPRH	-	NULL	ENSG00000146414		0.473	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SHPRH	HGNC	protein_coding	OTTHUMT00000042571.2	69	0.00	0	C	NM_173082		146276419	146276419	-1	no_errors	ENST00000367503	ensembl	human	known	69_37n	missense	51	23.88	16	SNP	1.000	T
SHQ1	55164	genome.wustl.edu	37	3	72799653	72799653	+	Missense_Mutation	SNP	C	C	T	rs187307658		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:72799653C>T	ENST00000325599.8	-	11	1655	c.1516G>A	c.(1516-1518)Gat>Aat	p.D506N	SHQ1_ENST00000468371.1_5'UTR|SHQ1_ENST00000463369.1_Missense_Mutation_p.D478N	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	506				D -> G (in Ref. 1; BAB14947). {ECO:0000305}.	negative regulation of rRNA processing (GO:2000233)|positive regulation of apoptotic process (GO:0043065)|ribonucleoprotein complex assembly (GO:0022618)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		ACTCCACCATCAACAATAAGA	0.483													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20882	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													126.0	124.0	124.0					3																	72799653		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC025270	CCDS33788.1	3p13	2013-01-08	2013-01-08		ENSG00000144736	ENSG00000144736			25543	protein-coding gene	gene with protein product		613663	"""SHQ1 homolog (S. cerevisiae)"""			12477932	Standard	NM_018130		Approved	FLJ10539, Shq1p	uc003dpf.3	Q6PI26	OTTHUMG00000158814	ENST00000325599.8:c.1516G>A	3.37:g.72799653C>T	ENSP00000315182:p.Asp506Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DL05|Q6MZJ4|Q7Z748|Q9H7E5|Q9NVS8	Missense_Mutation	SNP	pfam_SHQ1,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain	p.D506N	ENST00000325599.8	37	c.1516	CCDS33788.1	3	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	11.17	1.559024	0.27827	.	.	ENSG00000144736	ENST00000325599;ENST00000463369	T;T	0.31247	1.51;1.5	5.73	2.67	0.31697	.	1.831010	0.02437	N	0.084134	T	0.20414	0.0491	L	0.32530	0.975	0.09310	N	1	B	0.28128	0.201	B	0.16722	0.016	T	0.19712	-1.0297	10	0.06625	T	0.88	-10.2507	5.1427	0.14967	0.2:0.6071:0.109:0.0839	.	506	Q6PI26	SHQ1_HUMAN	N	506;478	ENSP00000315182:D506N;ENSP00000417452:D478N	ENSP00000315182:D506N	D	-	1	0	SHQ1	72882343	0.000000	0.05858	0.001000	0.08648	0.019000	0.09904	0.229000	0.17833	0.780000	0.33566	0.655000	0.94253	GAT	SHQ1	-	NULL	ENSG00000144736		0.483	SHQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHQ1	HGNC	protein_coding	OTTHUMT00000352310.1	54	0.00	0	C	NM_018130		72799653	72799653	-1	no_errors	ENST00000325599	ensembl	human	known	69_37n	missense	96	12.73	14	SNP	0.000	T
SHQ1	55164	genome.wustl.edu	37	3	72891482	72891482	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:72891482G>C	ENST00000325599.8	-	3	419	c.280C>G	c.(280-282)Ctt>Gtt	p.L94V	SHQ1_ENST00000463369.1_Missense_Mutation_p.L66V	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	94					negative regulation of rRNA processing (GO:2000233)|positive regulation of apoptotic process (GO:0043065)|ribonucleoprotein complex assembly (GO:0022618)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		GGTGCCAGAAGAGCAGTTAAC	0.383																																						dbGAP											0													108.0	106.0	107.0					3																	72891482		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC025270	CCDS33788.1	3p13	2013-01-08	2013-01-08		ENSG00000144736	ENSG00000144736			25543	protein-coding gene	gene with protein product		613663	"""SHQ1 homolog (S. cerevisiae)"""			12477932	Standard	NM_018130		Approved	FLJ10539, Shq1p	uc003dpf.3	Q6PI26	OTTHUMG00000158814	ENST00000325599.8:c.280C>G	3.37:g.72891482G>C	ENSP00000315182:p.Leu94Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DL05|Q6MZJ4|Q7Z748|Q9H7E5|Q9NVS8	Missense_Mutation	SNP	pfam_SHQ1,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain	p.L94V	ENST00000325599.8	37	c.280	CCDS33788.1	3	.	.	.	.	.	.	.	.	.	.	G	20.7	4.041736	0.75732	.	.	ENSG00000144736	ENST00000325599;ENST00000463369;ENST00000482785	T;T;T	0.67865	-0.13;-0.29;0.05	5.96	5.09	0.68999	.	0.000000	0.85682	D	0.000000	D	0.85396	0.5687	M	0.93062	3.375	0.54753	D	0.999986	D	0.89917	1.0	D	0.83275	0.996	D	0.88825	0.3301	10	0.72032	D	0.01	-2.7204	14.2143	0.65783	0.0727:0.0:0.9273:0.0	.	94	Q6PI26	SHQ1_HUMAN	V	94;66;5	ENSP00000315182:L94V;ENSP00000417452:L66V;ENSP00000418398:L5V	ENSP00000315182:L94V	L	-	1	0	SHQ1	72974172	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.693000	0.68264	1.538000	0.49270	0.591000	0.81541	CTT	SHQ1	-	NULL	ENSG00000144736		0.383	SHQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHQ1	HGNC	protein_coding	OTTHUMT00000352310.1	227	0.00	0	G	NM_018130		72891482	72891482	-1	no_errors	ENST00000325599	ensembl	human	known	69_37n	missense	217	11.07	27	SNP	1.000	C
SHROOM2	357	genome.wustl.edu	37	X	9864400	9864400	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:9864400C>G	ENST00000380913.3	+	4	2542	c.2452C>G	c.(2452-2454)Ctt>Gtt	p.L818V		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	818					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GAAGCAAGCTCTTCACGGAAT	0.607																																						dbGAP											0													54.0	52.0	53.0					X																	9864400		2203	4300	6503	-	-	-	SO:0001583	missense	0			X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.2452C>G	X.37:g.9864400C>G	ENSP00000370299:p.Leu818Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EIQ7	Missense_Mutation	SNP	pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.L818V	ENST00000380913.3	37	c.2452	CCDS14135.1	X	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.575466	0.00887	.	.	ENSG00000146950	ENST00000380913	T	0.15487	2.42	5.01	0.665	0.17896	.	3.709890	0.00508	N	0.000177	T	0.13329	0.0323	L	0.40543	1.245	0.09310	N	0.999999	B	0.31581	0.329	B	0.22386	0.039	T	0.21143	-1.0254	10	0.16420	T	0.52	-0.8382	6.4607	0.21954	0.1233:0.5844:0.2153:0.077	.	818	Q13796	SHRM2_HUMAN	V	818	ENSP00000370299:L818V	ENSP00000370299:L818V	L	+	1	0	SHROOM2	9824400	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.791000	0.26915	0.327000	0.23409	0.594000	0.82650	CTT	SHROOM2	-	NULL	ENSG00000146950		0.607	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM2	HGNC	protein_coding	OTTHUMT00000055721.1	48	0.00	0	C	NM_001649		9864400	9864400	+1	no_errors	ENST00000380913	ensembl	human	known	69_37n	missense	44	29.03	18	SNP	0.000	G
SHROOM2	357	genome.wustl.edu	37	X	9900720	9900720	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:9900720G>C	ENST00000380913.3	+	6	3487	c.3397G>C	c.(3397-3399)Gag>Cag	p.E1133Q	SHROOM2_ENST00000418909.2_5'UTR|SHROOM2_ENST00000493668.1_3'UTR	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1133					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				CACTGTCTGTGAGCGTGGAAG	0.652																																						dbGAP											0													61.0	52.0	55.0					X																	9900720		2203	4300	6503	-	-	-	SO:0001583	missense	0			X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.3397G>C	X.37:g.9900720G>C	ENSP00000370299:p.Glu1133Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EIQ7	Missense_Mutation	SNP	pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E1133Q	ENST00000380913.3	37	c.3397	CCDS14135.1	X	.	.	.	.	.	.	.	.	.	.	G	16.88	3.243718	0.58995	.	.	ENSG00000146950	ENST00000380913	T	0.17854	2.25	4.15	3.28	0.37604	.	.	.	.	.	T	0.29256	0.0728	L	0.40543	1.245	0.80722	D	1	D	0.89917	1.0	D	0.69654	0.965	T	0.00834	-1.1547	9	0.52906	T	0.07	.	11.5513	0.50723	0.0916:0.0:0.9084:0.0	.	1133	Q13796	SHRM2_HUMAN	Q	1133	ENSP00000370299:E1133Q	ENSP00000370299:E1133Q	E	+	1	0	SHROOM2	9860720	1.000000	0.71417	0.022000	0.16811	0.013000	0.08279	3.918000	0.56432	0.595000	0.29777	0.415000	0.27848	GAG	SHROOM2	-	NULL	ENSG00000146950		0.652	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM2	HGNC	protein_coding	OTTHUMT00000055721.1	38	0.00	0	G	NM_001649		9900720	9900720	+1	no_errors	ENST00000380913	ensembl	human	known	69_37n	missense	46	25.81	16	SNP	0.994	C
SHROOM2	357	genome.wustl.edu	37	X	9900768	9900768	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:9900768G>A	ENST00000380913.3	+	6	3535	c.3445G>A	c.(3445-3447)Gaa>Aaa	p.E1149K	SHROOM2_ENST00000418909.2_5'UTR|SHROOM2_ENST00000493668.1_3'UTR	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1149					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				TCCTCTGCCAGAAGCACTGCT	0.662																																						dbGAP											0													58.0	52.0	54.0					X																	9900768		2203	4300	6503	-	-	-	SO:0001583	missense	0			X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.3445G>A	X.37:g.9900768G>A	ENSP00000370299:p.Glu1149Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EIQ7	Missense_Mutation	SNP	pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E1149K	ENST00000380913.3	37	c.3445	CCDS14135.1	X	.	.	.	.	.	.	.	.	.	.	G	11.08	1.532237	0.27387	.	.	ENSG00000146950	ENST00000380913	T	0.16897	2.31	4.14	1.08	0.20341	.	3.656680	0.00780	N	0.001277	T	0.22003	0.0530	L	0.33485	1.01	0.40355	D	0.97917	D	0.58268	0.982	P	0.53006	0.715	T	0.22941	-1.0202	10	0.33940	T	0.23	-2.918	5.1921	0.15214	0.0804:0.2725:0.5165:0.1307	.	1149	Q13796	SHRM2_HUMAN	K	1149	ENSP00000370299:E1149K	ENSP00000370299:E1149K	E	+	1	0	SHROOM2	9860768	0.166000	0.22962	0.003000	0.11579	0.004000	0.04260	1.077000	0.30741	0.096000	0.17463	-0.262000	0.10625	GAA	SHROOM2	-	NULL	ENSG00000146950		0.662	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM2	HGNC	protein_coding	OTTHUMT00000055721.1	39	0.00	0	G	NM_001649		9900768	9900768	+1	no_errors	ENST00000380913	ensembl	human	known	69_37n	missense	35	27.08	13	SNP	0.138	A
SHROOM2	357	genome.wustl.edu	37	X	9914783	9914783	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:9914783G>A	ENST00000380913.3	+	10	4747	c.4657G>A	c.(4657-4659)Gac>Aac	p.D1553N	SHROOM2_ENST00000418909.2_Missense_Mutation_p.D388N	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1553	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GGAGAACCTGGACCGCCGCGA	0.547																																						dbGAP											0													44.0	40.0	41.0					X																	9914783		2202	4299	6501	-	-	-	SO:0001583	missense	0			X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.4657G>A	X.37:g.9914783G>A	ENSP00000370299:p.Asp1553Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EIQ7	Missense_Mutation	SNP	pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.D1553N	ENST00000380913.3	37	c.4657	CCDS14135.1	X	.	.	.	.	.	.	.	.	.	.	G	35	5.561585	0.96527	.	.	ENSG00000146950	ENST00000380913;ENST00000418909	T;T	0.34472	1.36;1.36	4.58	4.58	0.56647	Apx/shroom, ASD2 (2);	0.000000	0.85682	D	0.000000	T	0.64046	0.2563	M	0.82630	2.6	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.70392	-0.4884	10	0.56958	D	0.05	-42.0444	17.0822	0.86602	0.0:0.0:1.0:0.0	.	387;1553	Q68DU3;Q13796	.;SHRM2_HUMAN	N	1553;388	ENSP00000370299:D1553N;ENSP00000415229:D388N	ENSP00000370299:D1553N	D	+	1	0	SHROOM2	9874783	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	8.654000	0.91092	2.042000	0.60477	0.594000	0.82650	GAC	SHROOM2	-	pfam_ASD2	ENSG00000146950		0.547	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM2	HGNC	protein_coding	OTTHUMT00000055721.1	52	0.00	0	G	NM_001649		9914783	9914783	+1	no_errors	ENST00000380913	ensembl	human	known	69_37n	missense	47	24.19	15	SNP	1.000	A
SHROOM3	57619	genome.wustl.edu	37	4	77660065	77660065	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:77660065G>A	ENST00000296043.6	+	5	1692	c.739G>A	c.(739-741)Gac>Aac	p.D247N	SHROOM3_ENST00000473602.1_3'UTR	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	247					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CGGCAGCATTGACCAGCTCAG	0.587																																						dbGAP											0													67.0	60.0	62.0					4																	77660065		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.739G>A	4.37:g.77660065G>A	ENSP00000296043:p.Asp247Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.D247N	ENST00000296043.6	37	c.739	CCDS3579.2	4	.	.	.	.	.	.	.	.	.	.	G	34	5.342290	0.95783	.	.	ENSG00000138771	ENST00000296043;ENST00000380735	T	0.45276	0.9	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.69324	0.3098	M	0.82716	2.605	0.58432	D	0.999998	D;D;D	0.89917	1.0;0.997;0.997	D;P;P	0.68765	0.96;0.902;0.902	T	0.72127	-0.4384	10	0.87932	D	0	-28.9232	20.2822	0.98520	0.0:0.0:1.0:0.0	.	71;247;25	B4E244;Q8TF72;B3KY47	.;SHRM3_HUMAN;.	N	247;122	ENSP00000296043:D247N	ENSP00000296043:D247N	D	+	1	0	SHROOM3	77879089	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	8.019000	0.88732	2.806000	0.96561	0.655000	0.94253	GAC	SHROOM3	-	NULL	ENSG00000138771		0.587	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM3	HGNC	protein_coding	OTTHUMT00000252408.2	36	0.00	0	G	NM_020859		77660065	77660065	+1	no_errors	ENST00000296043	ensembl	human	known	69_37n	missense	38	20.83	10	SNP	1.000	A
SHROOM3	57619	genome.wustl.edu	37	4	77660746	77660746	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:77660746G>C	ENST00000296043.6	+	5	2373	c.1420G>C	c.(1420-1422)Gag>Cag	p.E474Q		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	474					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			ACCTTCCCTGGAGCCACACTT	0.587																																						dbGAP											0													96.0	99.0	98.0					4																	77660746		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.1420G>C	4.37:g.77660746G>C	ENSP00000296043:p.Glu474Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E474Q	ENST00000296043.6	37	c.1420	CCDS3579.2	4	.	.	.	.	.	.	.	.	.	.	G	21.2	4.106193	0.77096	.	.	ENSG00000138771	ENST00000296043	T	0.59224	0.28	5.49	5.49	0.81192	.	0.078453	0.52532	D	0.000070	T	0.77552	0.4147	M	0.74258	2.255	0.44117	D	0.996892	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.989;0.989	T	0.79711	-0.1689	10	0.87932	D	0	-30.1972	19.3768	0.94514	0.0:0.0:1.0:0.0	.	298;474;252	B4E244;Q8TF72;B3KY47	.;SHRM3_HUMAN;.	Q	474	ENSP00000296043:E474Q	ENSP00000296043:E474Q	E	+	1	0	SHROOM3	77879770	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	5.519000	0.67074	2.564000	0.86499	0.563000	0.77884	GAG	SHROOM3	-	NULL	ENSG00000138771		0.587	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM3	HGNC	protein_coding	OTTHUMT00000252408.2	48	0.00	0	G	NM_020859		77660746	77660746	+1	no_errors	ENST00000296043	ensembl	human	known	69_37n	missense	39	29.09	16	SNP	1.000	C
SHROOM4	57477	genome.wustl.edu	37	X	50351126	50351126	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:50351126C>G	ENST00000289292.7	-	6	3299	c.3016G>C	c.(3016-3018)Gag>Cag	p.E1006Q	SHROOM4_ENST00000376020.2_Missense_Mutation_p.E1006Q|SHROOM4_ENST00000460112.3_Missense_Mutation_p.E890Q			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																																						dbGAP											0													51.0	47.0	48.0					X																	50351126		2203	4300	6503	-	-	-	SO:0001583	missense	0			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>C	X.37:g.50351126C>G	ENSP00000289292:p.Glu1006Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E1006Q	ENST00000289292.7	37	c.3016	CCDS35277.1	X	.	.	.	.	.	.	.	.	.	.	C	13.90	2.376458	0.42105	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	T;T;T	0.16457	2.76;2.76;2.34	5.51	3.68	0.42216	.	0.324927	0.26499	N	0.024033	T	0.14614	0.0353	L	0.34521	1.04	0.28353	N	0.920799	B	0.23058	0.079	B	0.20767	0.031	T	0.09997	-1.0649	10	0.72032	D	0.01	.	12.8285	0.57733	0.0:0.6938:0.3062:0.0	.	1006	Q9ULL8	SHRM4_HUMAN	Q	1006;1006;890	ENSP00000289292:E1006Q;ENSP00000365188:E1006Q;ENSP00000421450:E890Q	ENSP00000289292:E1006Q	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	ENSG00000158352		0.438	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	SHROOM4	HGNC	protein_coding	OTTHUMT00000056564.4	44	0.00	0	C	NM_020717		50351126	50351126	-1	no_errors	ENST00000289292	ensembl	human	known	69_37n	missense	41	19.61	10	SNP	0.994	G
SHROOM4	57477	genome.wustl.edu	37	X	50376561	50376561	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:50376561G>A	ENST00000289292.7	-	4	2795	c.2512C>T	c.(2512-2514)Cat>Tat	p.H838Y	SHROOM4_ENST00000376020.2_Missense_Mutation_p.H838Y|SHROOM4_ENST00000460112.3_Missense_Mutation_p.H722Y			Q9ULL8	SHRM4_HUMAN	shroom family member 4	838					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)					TCTGTGGCATGATATGGTTGG	0.448																																						dbGAP											0													228.0	194.0	205.0					X																	50376561		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.2512C>T	X.37:g.50376561G>A	ENSP00000289292:p.His838Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.H838Y	ENST00000289292.7	37	c.2512	CCDS35277.1	X	.	.	.	.	.	.	.	.	.	.	G	9.852	1.193975	0.22037	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	D;D;D	0.88124	-2.34;-2.34;-2.34	3.62	3.62	0.41486	.	0.373706	0.27600	N	0.018647	D	0.87521	0.6198	N	0.24115	0.695	0.41948	D	0.990645	D	0.57899	0.981	D	0.65140	0.932	D	0.89386	0.3685	10	0.72032	D	0.01	.	14.1137	0.65139	0.0:0.0:1.0:0.0	.	838	Q9ULL8	SHRM4_HUMAN	Y	838;838;722	ENSP00000289292:H838Y;ENSP00000365188:H838Y;ENSP00000421450:H722Y	ENSP00000289292:H838Y	H	-	1	0	SHROOM4	50393301	1.000000	0.71417	0.975000	0.42487	0.155000	0.21991	3.470000	0.53100	2.051000	0.60960	0.600000	0.82982	CAT	SHROOM4	-	NULL	ENSG00000158352		0.448	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	SHROOM4	HGNC	protein_coding	OTTHUMT00000056564.4	200	0.00	0	G	NM_020717		50376561	50376561	-1	no_errors	ENST00000289292	ensembl	human	known	69_37n	missense	177	15.31	32	SNP	0.999	A
SI	6476	genome.wustl.edu	37	3	164750357	164750357	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:164750357G>C	ENST00000264382.3	-	24	2751	c.2689C>G	c.(2689-2691)Caa>Gaa	p.Q897E		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	897	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TTCATTGGTTGATTATTTTCC	0.323										HNSCC(35;0.089)																												dbGAP											0													158.0	149.0	152.0					3																	164750357		2202	4300	6502	-	-	-	SO:0001583	missense	0			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.2689C>G	3.37:g.164750357G>C	ENSP00000264382:p.Gln897Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.Q897E	ENST00000264382.3	37	c.2689	CCDS3196.1	3	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.541369	0.00934	.	.	ENSG00000090402	ENST00000264382	T	0.15834	2.39	4.88	2.93	0.34026	.	0.681541	0.14339	N	0.325830	T	0.10165	0.0249	L	0.33093	0.98	0.09310	N	1	B	0.15930	0.015	B	0.16289	0.015	T	0.38200	-0.9672	10	0.02654	T	1	.	8.0061	0.30325	0.0:0.3279:0.5029:0.1692	.	897	P14410	SUIS_HUMAN	E	897	ENSP00000264382:Q897E	ENSP00000264382:Q897E	Q	-	1	0	SI	166233051	0.016000	0.18221	0.003000	0.11579	0.002000	0.02628	1.352000	0.34033	1.387000	0.46486	0.655000	0.94253	CAA	SI	-	NULL	ENSG00000090402		0.323	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SI	HGNC	protein_coding	OTTHUMT00000350116.1	172	0.00	0	G	NM_001041		164750357	164750357	-1	no_errors	ENST00000264382	ensembl	human	known	69_37n	missense	146	18.44	33	SNP	0.000	C
SIDT2	51092	genome.wustl.edu	37	11	117060985	117060985	+	Missense_Mutation	SNP	C	C	T	rs200870091		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:117060985C>T	ENST00000324225.4	+	17	2128	c.1597C>T	c.(1597-1599)Cgc>Tgc	p.R533C	SIDT2_ENST00000532062.1_5'Flank|SIDT2_ENST00000431081.2_Missense_Mutation_p.R530C	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	533					cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		GGCCCTGCTGCGCAATGACCT	0.602																																						dbGAP											0													107.0	101.0	103.0					11																	117060985		2201	4296	6497	-	-	-	SO:0001583	missense	0			AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065	ENST00000324225.4:c.1597C>T	11.37:g.117060985C>T	ENSP00000314023:p.Arg533Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NBY7|Q9Y357	Missense_Mutation	SNP	NULL	p.R554C	ENST00000324225.4	37	c.1660	CCDS31682.1	11	.	.	.	.	.	.	.	.	.	.	C	15.73	2.918987	0.52546	.	.	ENSG00000149577	ENST00000324225;ENST00000278951;ENST00000431081	T;T;T	0.20332	2.09;2.1;2.08	4.6	3.68	0.42216	.	0.254605	0.38272	N	0.001742	T	0.20292	0.0488	L	0.46157	1.445	0.80722	D	1	B;B;B;B	0.25007	0.085;0.116;0.105;0.105	B;B;B;B	0.24155	0.03;0.011;0.032;0.051	T	0.04413	-1.0953	10	0.56958	D	0.05	-20.9358	12.6373	0.56690	0.1649:0.8351:0.0:0.0	.	554;530;533;554	Q8NBJ9-2;F5H8L4;Q8NBJ9;C9JBG5	.;.;SIDT2_HUMAN;.	C	533;554;530	ENSP00000314023:R533C;ENSP00000278951:R554C;ENSP00000399635:R530C	ENSP00000278951:R554C	R	+	1	0	SIDT2	116566195	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.567000	0.53813	1.130000	0.42092	0.491000	0.48974	CGC	SIDT2	-	NULL	ENSG00000149577		0.602	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIDT2	HGNC	protein_coding	OTTHUMT00000392836.1	61	0.00	0	C	NM_015996		117060985	117060985	+1	no_errors	ENST00000278951	ensembl	human	known	69_37n	missense	37	43.94	29	SNP	1.000	T
SIDT2	51092	genome.wustl.edu	37	11	117062706	117062706	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:117062706C>G	ENST00000324225.4	+	19	2379	c.1848C>G	c.(1846-1848)gtC>gtG	p.V616V	SIDT2_ENST00000532062.1_5'Flank|SIDT2_ENST00000431081.2_Silent_p.V613V	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	616					cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		TGGCCATTGTCATCTTCTTCT	0.587																																						dbGAP											0													160.0	147.0	151.0					11																	117062706		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065	ENST00000324225.4:c.1848C>G	11.37:g.117062706C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NBY7|Q9Y357	Silent	SNP	NULL	p.V637	ENST00000324225.4	37	c.1911	CCDS31682.1	11																																																																																			SIDT2	-	NULL	ENSG00000149577		0.587	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIDT2	HGNC	protein_coding	OTTHUMT00000392836.1	77	0.00	0	C	NM_015996		117062706	117062706	+1	no_errors	ENST00000278951	ensembl	human	known	69_37n	silent	64	16.88	13	SNP	1.000	G
SIGLEC6	946	genome.wustl.edu	37	19	52034085	52034085	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:52034085C>A	ENST00000425629.3	-	3	710	c.556G>T	c.(556-558)Gcc>Tcc	p.A186S	SIGLEC6_ENST00000343300.4_Missense_Mutation_p.A186S|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.A186S|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.A175S|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.A150S|SIGLEC6_ENST00000346477.3_Missense_Mutation_p.A186S|SIGLEC6_ENST00000474054.1_5'Flank	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	186	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		GAGGTGGGGGCAGCTGACATC	0.657																																						dbGAP											0													62.0	67.0	65.0					19																	52034085		2203	4300	6503	-	-	-	SO:0001583	missense	0			D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000425629.3:c.556G>T	19.37:g.52034085C>A	ENSP00000401502:p.Ala186Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	Missense_Mutation	SNP	pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.A186S	ENST00000425629.3	37	c.556	CCDS12834.3	19	.	.	.	.	.	.	.	.	.	.	C	10.42	1.344105	0.24339	.	.	ENSG00000105492	ENST00000346477;ENST00000391797;ENST00000425629;ENST00000359982;ENST00000436458;ENST00000343300	T;T;T;T	0.20332	2.08;2.08;2.08;2.08	3.47	-2.12	0.07165	Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.216858	0.23098	N	0.051950	T	0.23532	0.0569	M	0.76938	2.355	0.09310	N	1	B;B;P;B;B;B	0.39551	0.053;0.207;0.678;0.366;0.173;0.224	B;B;P;B;B;P	0.47573	0.191;0.379;0.55;0.363;0.173;0.476	T	0.16364	-1.0405	10	0.20519	T	0.43	.	1.6652	0.02800	0.3645:0.3426:0.1787:0.1142	.	186;150;175;186;186;186	F8WA78;C9JBE5;O43699-4;O43699-2;O43699-3;O43699	.;.;.;.;.;SIGL6_HUMAN	S	175;186;186;186;150;186	ENSP00000401502:A186S;ENSP00000353071:A186S;ENSP00000410679:A150S;ENSP00000345907:A186S	ENSP00000345907:A186S	A	-	1	0	SIGLEC6	56725897	0.018000	0.18449	0.000000	0.03702	0.005000	0.04900	0.625000	0.24477	-0.374000	0.07967	-0.521000	0.04368	GCC	SIGLEC6	-	pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like	ENSG00000105492		0.657	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIGLEC6	HGNC	protein_coding	OTTHUMT00000257670.3	68	0.00	0	C	NM_001245		52034085	52034085	-1	no_errors	ENST00000425629	ensembl	human	known	69_37n	missense	50	21.54	14	SNP	0.000	A
SIK1	150094	genome.wustl.edu	37	21	44840966	44840966	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr21:44840966G>A	ENST00000270162.6	-	7	804	c.672C>T	c.(670-672)ttC>ttT	p.F224F		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	224	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle cell differentiation (GO:0055007)|cell cycle (GO:0007049)|entrainment of circadian clock by photoperiod (GO:0043153)|intracellular signal transduction (GO:0035556)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of triglyceride biosynthetic process (GO:0010868)|positive regulation of anoikis (GO:2000210)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell differentiation (GO:0045595)|regulation of mitotic cell cycle (GO:0007346)|regulation of myotube differentiation (GO:0010830)|regulation of sodium ion transport (GO:0002028)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|cAMP response element binding protein binding (GO:0008140)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21					Dabrafenib(DB08912)	TAGGCCCATCGAAGGGGAGAG	0.652																																						dbGAP											0													57.0	59.0	58.0					21																	44840966		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			BC038504	CCDS33575.1	21q22.3	2008-12-23	2008-12-23	2008-12-23	ENSG00000142178	ENSG00000142178			11142	protein-coding gene	gene with protein product	"""myocardial SNF1-like kinase"""	605705	"""SNF1-like kinase"""	SNF1LK		7893599	Standard	NM_173354		Approved	msk	uc002zdf.2	P57059	OTTHUMG00000086874	ENST00000270162.6:c.672C>T	21.37:g.44840966G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NC84|Q5R2V5|Q6ZNL8|Q86YJ2	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,pirsf_Ser/Thr_kinase_SIK1/2,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom	p.F224	ENST00000270162.6	37	c.672	CCDS33575.1	21																																																																																			SIK1	-	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,pirsf_Ser/Thr_kinase_SIK1/2,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000142178		0.652	SIK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIK1	HGNC	protein_coding	OTTHUMT00000195654.1	29	0.00	0	G	NM_173354		44840966	44840966	-1	no_errors	ENST00000270162	ensembl	human	known	69_37n	silent	11	40.00	8	SNP	0.945	A
SIK3	23387	genome.wustl.edu	37	11	116827762	116827762	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:116827762C>G	ENST00000292055.4	-	2	153	c.118G>C	c.(118-120)Gat>Cat	p.D40H	SIK3_ENST00000542607.1_Missense_Mutation_p.D40H|SIK3_ENST00000446921.2_Missense_Mutation_p.D98H|SIK3_ENST00000434315.2_5'UTR|SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000375300.1_Missense_Mutation_p.D98H	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	40	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TGGGTCTTATCTATGATCTTG	0.363																																						dbGAP											0													180.0	196.0	191.0					11																	116827762		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.118G>C	11.37:g.116827762C>G	ENSP00000292055:p.Asp40His	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	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_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom	p.D98H	ENST00000292055.4	37	c.292	CCDS8379.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.2|28.2	4.896457|4.896457	0.91962|0.91962	.|.	.|.	ENSG00000160584|ENSG00000160584	ENST00000375300;ENST00000292055;ENST00000542607|ENST00000445177;ENST00000446921	T;T;T|T	0.65732|0.71698	-0.17;-0.17;-0.17|-0.59	6.17|6.17	6.17|6.17	0.99709|0.99709	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.42682|.	U|.	0.000668|.	T|T	0.76506|0.76506	0.3997|0.3997	L|L	0.42581|0.42581	1.335|1.335	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	T|T	0.70088|0.70088	-0.4968|-0.4968	10|6	0.87932|.	D|.	0|.	.|.	20.8794|20.8794	0.99867|0.99867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	40;40|.	A1A5A8;Q9Y2K2|.	.;SIK3_HUMAN|.	H|T	98;40;40|91;62	ENSP00000364449:D98H;ENSP00000292055:D40H;ENSP00000438108:D40H|ENSP00000390442:R62T	ENSP00000292055:D40H|.	D|R	-|-	1|2	0|0	SIK3|SIK3	116332972|116332972	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	7.818000|7.818000	0.86416|0.86416	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAT|AGA	SIK3	-	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	ENSG00000160584		0.363	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	SIK3	HGNC	protein_coding		144	0.00	0	C	NM_025164		116827762	116827762	-1	no_errors	ENST00000375300	ensembl	human	known	69_37n	missense	62	48.33	58	SNP	1.000	G
SIM2	6493	genome.wustl.edu	37	21	38095422	38095422	+	Silent	SNP	C	C	T	rs201234631	byFrequency	TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr21:38095422C>T	ENST00000290399.6	+	5	1147	c.534C>T	c.(532-534)agC>agT	p.S178S	SIM2_ENST00000430056.3_Silent_p.S178S	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	178					cell differentiation (GO:0030154)|embryonic pattern specification (GO:0009880)|lung development (GO:0030324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						TGACCTGCAGCGGATACAAGG	0.532													C|||	2	0.000399361	0.0	0.0014	5008	,	,		21148	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													118.0	109.0	112.0					21																	38095422		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS13646.1	21q22.2	2013-10-17	2013-10-17		ENSG00000159263	ENSG00000159263		"""Basic helix-loop-helix proteins"""	10883	protein-coding gene	gene with protein product	"""transcription factor SIM2"""	600892	"""single-minded (Drosophila) homolog 2"", ""single-minded homolog 2 (Drosophila)"""	SIM		7485157	Standard	NM_009586		Approved	MGC119447, bHLHe15	uc002yvr.2	Q14190	OTTHUMG00000086637	ENST00000290399.6:c.534C>T	21.37:g.38095422C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O60766|Q15470|Q15471|Q15472|Q15473|Q16532|Q2TBD8	Missense_Mutation	SNP	pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,smart_PAC,pfscan_PAS	p.R116W	ENST00000290399.6	37	c.346	CCDS13646.1	21	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	6.222	0.409018	0.11812	.	.	ENSG00000159263	ENST00000431229	.	.	.	5.24	-9.51	0.00581	.	.	.	.	.	T	0.64972	0.2647	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74639	-0.3598	4	.	.	.	.	19.0003	0.92830	0.0:0.6148:0.0:0.3852	.	.	.	.	W	116	.	.	R	+	1	2	SIM2	37017292	0.000000	0.05858	0.274000	0.24659	0.657000	0.38888	-3.548000	0.00434	-2.264000	0.00689	-1.004000	0.02495	CGG	SIM2	-	NULL	ENSG00000159263		0.532	SIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIM2	HGNC	protein_coding	OTTHUMT00000194692.1	60	0.00	0	C	NM_009586		38095422	38095422	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000431229	ensembl	human	putative	69_37n	missense	56	22.22	16	SNP	0.003	T
SIN3A	25942	genome.wustl.edu	37	15	75702228	75702228	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:75702228C>T	ENST00000394947.3	-	8	1580	c.1266G>A	c.(1264-1266)caG>caA	p.Q422Q	SIN3A_ENST00000360439.4_Silent_p.Q422Q|SIN3A_ENST00000394949.4_Silent_p.Q422Q	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A									p.Q422Q(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						GGCAGCCATTCTGGCTGGGCC	0.493																																						dbGAP											1	Substitution - coding silent(1)	lung(1)											133.0	132.0	132.0					15																	75702228		2197	4294	6491	-	-	-	SO:0001819	synonymous_variant	0			AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"""SIN3 homolog A, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog A (yeast)"""			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.1266G>A	15.37:g.75702228C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact	p.Q422	ENST00000394947.3	37	c.1266	CCDS10279.1	15																																																																																			SIN3A	-	NULL	ENSG00000169375		0.493	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIN3A	HGNC	protein_coding	OTTHUMT00000286469.1	137	0.00	0	C	NM_015477		75702228	75702228	-1	no_errors	ENST00000360439	ensembl	human	known	69_37n	silent	65	52.21	71	SNP	1.000	T
SIN3B	23309	genome.wustl.edu	37	19	16974522	16974522	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:16974522C>T	ENST00000248054.5	+	10	1319	c.1298C>T	c.(1297-1299)tCc>tTc	p.S433F	SIN3B_ENST00000379803.1_Missense_Mutation_p.S465F|SIN3B_ENST00000595541.1_Missense_Mutation_p.S23F					SIN3 transcription regulator family member B											endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						TCCTTCCCTTCCTGGTCTGAG	0.572																																						dbGAP											0													174.0	119.0	138.0					19																	16974522		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014600	CCDS32946.1, CCDS74308.1	19p13.12	2013-08-21	2013-08-21						19354	protein-coding gene	gene with protein product		607777	"""SIN3 homolog B, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog B (yeast)"""			9734811	Standard	XM_005259832		Approved	KIAA0700	uc002ney.2	O75182		ENST00000248054.5:c.1298C>T	19.37:g.16974522C>T	ENSP00000248054:p.Ser433Phe	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact	p.S465F	ENST00000248054.5	37	c.1394		19	.	.	.	.	.	.	.	.	.	.	C	26.9	4.781483	0.90282	.	.	ENSG00000127511	ENST00000379803;ENST00000248054	T;T	0.50813	0.76;0.73	4.62	4.62	0.57501	Histone deacetylase interacting (2);	0.000000	0.85682	D	0.000000	T	0.65903	0.2736	M	0.76938	2.355	0.80722	D	1	D;D;P	0.56287	0.974;0.975;0.571	P;P;B	0.57620	0.824;0.813;0.403	T	0.71790	-0.4486	10	0.59425	D	0.04	-33.4086	17.4419	0.87567	0.0:1.0:0.0:0.0	.	23;433;465	B7Z392;O75182-2;O75182	.;.;SIN3B_HUMAN	F	465;433	ENSP00000369131:S465F;ENSP00000248054:S433F	ENSP00000248054:S433F	S	+	2	0	SIN3B	16835522	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.621000	0.83083	2.109000	0.64355	0.555000	0.69702	TCC	SIN3B	-	pfam_HDAC_interact,smart_HDAC_interact	ENSG00000127511		0.572	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	SIN3B	HGNC	protein_coding	OTTHUMT00000462846.1	48	0.00	0	C	NM_015260		16974522	16974522	+1	no_errors	ENST00000379803	ensembl	human	known	69_37n	missense	37	35.09	20	SNP	1.000	T
SIPA1L1	26037	genome.wustl.edu	37	14	72055318	72055318	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:72055318C>T	ENST00000555818.1	+	2	1077	c.729C>T	c.(727-729)ctC>ctT	p.L243L	SIPA1L1_ENST00000358550.2_Silent_p.L243L|SIPA1L1_ENST00000381232.3_Silent_p.L243L	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	243					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CAACCAAGCTCAGTGACTTTC	0.428																																						dbGAP											0													91.0	82.0	85.0					14																	72055318		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.729C>T	14.37:g.72055318C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	J3KP19|O95321|Q9UDU4|Q9UNU4	Silent	SNP	pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.L243	ENST00000555818.1	37	c.729	CCDS9807.1	14																																																																																			SIPA1L1	-	NULL	ENSG00000197555		0.428	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIPA1L1	HGNC	protein_coding	OTTHUMT00000412806.1	40	0.00	0	C	NM_015556		72055318	72055318	+1	no_errors	ENST00000555818	ensembl	human	known	69_37n	silent	30	50.82	31	SNP	1.000	T
SIRPB1	10326	genome.wustl.edu	37	20	1585668	1585668	+	Intron	SNP	C	C	T	rs556247920	byFrequency	TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:1585668C>T	ENST00000381605.4	-	1	141				SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000279477.7_Silent_p.A157A|SIRPB1_ENST00000381596.1_5'UTR|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000568365.1_Silent_p.A157A	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1						cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GTGTGGCCCTCGCCGCAGGGC	0.532													c|||	11	0.00219649	0.0068	0.0	5008	,	,		4964	0.002		0.0	False		,,,				2504	0.0					dbGAP											0													11.0	12.0	12.0					20																	1585668		148	650	798	-	-	-	SO:0001627	intron_variant	0			Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.76+14846G>A	20.37:g.1585668C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Silent	SNP	pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like	p.A157	ENST00000381605.4	37	c.471	CCDS13019.1	20																																																																																			SIRPB1	-	pfam_CD80_C2-set,pfscan_Ig-like	ENSG00000101307		0.532	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIRPB1	HGNC	protein_coding	OTTHUMT00000077555.2	32	0.00	0	C	NM_006065		1585668	1585668	-1	no_errors	ENST00000279477	ensembl	human	known	69_37n	silent	86	21.10	23	SNP	0.026	T
SKA1	220134	genome.wustl.edu	37	18	47908574	47908574	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr18:47908574C>T	ENST00000285116.3	+	4	500	c.289C>T	c.(289-291)Caa>Taa	p.Q97*	SKA1_ENST00000488454.1_5'UTR|SKA1_ENST00000417656.2_Nonsense_Mutation_p.Q97*|SKA1_ENST00000398452.2_Nonsense_Mutation_p.Q97*	NM_001039535.2|NM_145060.3	NP_001034624.1|NP_659497.1	Q96BD8	SKA1_HUMAN	spindle and kinetochore associated complex subunit 1	97					cell division (GO:0051301)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|spindle microtubule (GO:0005876)	microtubule binding (GO:0008017)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(1)|prostate(1)	13						CCATTTGCCTCAAGTAACAGT	0.328																																						dbGAP											0													76.0	79.0	78.0					18																	47908574		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC015706	CCDS11946.1	18q21.1	2013-01-17	2009-08-19	2009-08-19	ENSG00000154839	ENSG00000154839			28109	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 24"""	C18orf24		17093495	Standard	NM_145060		Approved	MGC10200	uc002leu.3	Q96BD8	OTTHUMG00000132685	ENST00000285116.3:c.289C>T	18.37:g.47908574C>T	ENSP00000285116:p.Gln97*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9Y6|B4E0P4	Nonsense_Mutation	SNP	pfam_DUF1395	p.Q97*	ENST00000285116.3	37	c.289	CCDS11946.1	18	.	.	.	.	.	.	.	.	.	.	C	18.91	3.724450	0.68959	.	.	ENSG00000154839	ENST00000285116;ENST00000417656;ENST00000398452	.	.	.	5.66	4.7	0.59300	.	0.347798	0.32190	N	0.006453	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.9758	12.6078	0.56532	0.2374:0.7626:0.0:0.0	.	.	.	.	X	97	.	ENSP00000285116:Q97X	Q	+	1	0	SKA1	46162572	1.000000	0.71417	0.998000	0.56505	0.148000	0.21650	1.532000	0.36029	2.665000	0.90641	0.561000	0.74099	CAA	SKA1	-	pfam_DUF1395	ENSG00000154839		0.328	SKA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKA1	HGNC	protein_coding	OTTHUMT00000255982.2	73	0.00	0	C	NM_145060		47908574	47908574	+1	no_errors	ENST00000285116	ensembl	human	known	69_37n	nonsense	33	26.09	12	SNP	0.999	T
SKA2P1	729012	genome.wustl.edu	37	9	125524225	125524225	+	IGR	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:125524225G>C								OR1L6 (11163 upstream) : OR5C1 (26924 downstream)																							ATACAGGCTGGAATATGAAAT	0.388																																						dbGAP											0																																										-	-	-	SO:0001628	intergenic_variant	0																															9.37:g.125524225G>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.E32Q		37	c.94		9	.	.	.	.	.	.	.	.	.	.	g	10.27	1.303247	0.23736	.	.	ENSG00000232387	ENST00000425592	.	.	.	3.07	2.16	0.27623	.	0.155857	0.56097	D	0.000024	T	0.41351	0.1155	.	.	.	0.28022	N	0.934473	.	.	.	.	.	.	T	0.34104	-0.9842	6	0.62326	D	0.03	.	7.3769	0.26833	0.1316:0.0:0.8684:0.0	.	.	.	.	Q	32	.	ENSP00000407425:E32Q	E	+	1	0	SKA2L	124564046	1.000000	0.71417	1.000000	0.80357	0.040000	0.13550	0.803000	0.27083	0.770000	0.33336	-0.460000	0.05396	GAA	SKA2L	-	NULL	ENSG00000232387	0	0.388					SKA2L	HGNC			132	0.00	0	G			125524225	125524225	+1	no_errors	ENST00000425592	ensembl	human	known	69_37n	missense	116	17.14	24	SNP	1.000	C
SKAP2	8935	genome.wustl.edu	37	7	26765161	26765161	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:26765161C>T	ENST00000345317.2	-	9	995	c.682G>A	c.(682-684)Gag>Aag	p.E228K	SKAP2_ENST00000539623.1_Missense_Mutation_p.E56K|SKAP2_ENST00000489977.1_5'UTR	NM_003930.3	NP_003921.2	O75563	SKAP2_HUMAN	src kinase associated phosphoprotein 2	228					B cell activation (GO:0042113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of signal transduction (GO:0009967)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						TCATAATCCTCAGGAATAATA	0.274																																						dbGAP											0													100.0	98.0	99.0					7																	26765161		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5400.1	7p15.2	2013-01-10	2006-09-28	2006-09-28	ENSG00000005020	ENSG00000005020		"""Pleckstrin homology (PH) domain containing"""	15687	protein-coding gene	gene with protein product		605215	"""src family associated phosphoprotein 2"""	SCAP2		9837776, 9755858	Standard	NM_003930		Approved	RA70, SKAP-HOM, SKAP55R, SAPS	uc003syc.3	O75563	OTTHUMG00000023495	ENST00000345317.2:c.682G>A	7.37:g.26765161C>T	ENSP00000005587:p.Glu228Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D173|Q53GP6|Q75MK6|Q75MZ4|Q9UBZ3|Q9UED8	Missense_Mutation	SNP	pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_SH3_domain,prints_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain	p.E228K	ENST00000345317.2	37	c.682	CCDS5400.1	7	.	.	.	.	.	.	.	.	.	.	C	21.8	4.202988	0.79127	.	.	ENSG00000005020	ENST00000345317;ENST00000539623;ENST00000535331	T;T	0.32515	1.89;1.45	5.86	5.86	0.93980	.	0.169942	0.52532	D	0.000076	T	0.44074	0.1276	L	0.43923	1.385	0.80722	D	1	D;D	0.71674	0.996;0.998	P;P	0.58266	0.76;0.836	T	0.03795	-1.1003	10	0.28530	T	0.3	-17.4767	18.3577	0.90364	0.0:1.0:0.0:0.0	.	213;228	B7Z5N4;O75563	.;SKAP2_HUMAN	K	228;56;213	ENSP00000005587:E228K;ENSP00000443593:E56K	ENSP00000005587:E228K	E	-	1	0	SKAP2	26731686	1.000000	0.71417	0.985000	0.45067	0.988000	0.76386	4.769000	0.62300	2.778000	0.95560	0.655000	0.94253	GAG	SKAP2	-	NULL	ENSG00000005020		0.274	SKAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKAP2	HGNC	protein_coding	OTTHUMT00000214128.1	93	0.00	0	C			26765161	26765161	-1	no_errors	ENST00000345317	ensembl	human	known	69_37n	missense	80	16.67	16	SNP	1.000	T
SLAIN1	122060	genome.wustl.edu	37	13	78293699	78293699	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr13:78293699C>T	ENST00000466548.1	+	3	619	c.593C>T	c.(592-594)tCa>tTa	p.S198L	SLAIN1_ENST00000488699.1_Missense_Mutation_p.S56L|SLAIN1_ENST00000418532.1_5'UTR|SLAIN1_ENST00000267219.8_5'Flank	NM_001242868.1	NP_001229797.1	Q8ND83	SLAI1_HUMAN	SLAIN motif family, member 1	198										breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0853)		ACGTTCACCTCATCAGAGAAA	0.428																																						dbGAP											0													219.0	177.0	190.0					13																	78293699		692	1591	2283	-	-	-	SO:0001583	missense	0			AK054608	CCDS9460.1, CCDS31995.1, CCDS31995.2, CCDS55901.1, CCDS73588.1, CCDS73589.1	13q22.3	2006-09-12	2006-09-12	2006-09-12	ENSG00000139737	ENSG00000139737			26387	protein-coding gene	gene with protein product		610491	"""chromosome 13 open reading frame 32"""	C13orf32		16546155	Standard	NM_001040153		Approved	FLJ30046	uc001vkk.3	Q8ND83	OTTHUMG00000017110	ENST00000466548.1:c.593C>T	13.37:g.78293699C>T	ENSP00000419730:p.Ser198Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0Z9|B7Z209|Q5T6P4|Q5T6P7|Q8ND10|Q96NV0	Missense_Mutation	SNP	NULL	p.S198L	ENST00000466548.1	37	c.593		13	.	.	.	.	.	.	.	.	.	.	C	10.02	1.236955	0.22711	.	.	ENSG00000139737	ENST00000466548;ENST00000389459;ENST00000488699	.	.	.	5.42	3.33	0.38152	.	0.759553	0.11718	N	0.536255	T	0.13114	0.0318	N	0.01048	-1.04	0.20489	N	0.999894	B	0.06786	0.001	B	0.08055	0.003	T	0.18555	-1.0333	9	0.16420	T	0.52	-2.7636	11.4927	0.50389	0.0:0.8283:0.0:0.1717	.	56	B7Z209	.	L	198;198;56	.	ENSP00000374110:S198L	S	+	2	0	SLAIN1	77191700	0.002000	0.14202	0.996000	0.52242	0.987000	0.75469	1.292000	0.33342	1.277000	0.44412	0.561000	0.74099	TCA	SLAIN1	-	NULL	ENSG00000139737		0.428	SLAIN1-009	KNOWN	not_organism_supported|basic	protein_coding	SLAIN1	HGNC	protein_coding	OTTHUMT00000355018.1	101	0.98	1	C	NM_144595		78293699	78293699	+1	no_errors	ENST00000466548	ensembl	human	known	69_37n	missense	95	28.03	37	SNP	0.155	T
SLAMF1	6504	genome.wustl.edu	37	1	160607157	160607157	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:160607157G>A	ENST00000302035.6	-	2	588	c.239C>T	c.(238-240)tCt>tTt	p.S80F	SLAMF1_ENST00000235739.5_Missense_Mutation_p.S80F|SLAMF1_ENST00000538290.1_Missense_Mutation_p.S80F|SLAMF1_ENST00000355199.3_Missense_Mutation_p.S80F	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	80	Ig-like V-type.				lymphocyte activation (GO:0046649)|positive regulation of cell proliferation (GO:0008284)|regulation of catalytic activity (GO:0050790)|regulation of vesicle fusion (GO:0031338)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|phagocytic vesicle (GO:0045335)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TGGATCAAGAGACACTATTTT	0.448																																						dbGAP											0													197.0	158.0	171.0					1																	160607157		2203	4300	6503	-	-	-	SO:0001583	missense	0			U33017	CCDS1207.1	1q23.3	2013-01-11	2003-10-29	2003-10-31	ENSG00000117090	ENSG00000117090		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10903	protein-coding gene	gene with protein product		603492	"""signaling lymphocytic activation molecule"""	SLAM		7617038	Standard	XM_005245456		Approved	CD150	uc001fwl.4	Q13291	OTTHUMG00000024006	ENST00000302035.6:c.239C>T	1.37:g.160607157G>A	ENSP00000306190:p.Ser80Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5W172|Q9HBE8	Missense_Mutation	SNP	pfam_Sig_lymph_act_molc_N,pfscan_Ig-like	p.S80F	ENST00000302035.6	37	c.239	CCDS1207.1	1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.892718	0.91889	.	.	ENSG00000117090	ENST00000302035;ENST00000235739;ENST00000392208;ENST00000538290;ENST00000355199	T;T;T;T	0.58506	0.33;0.33;0.33;0.33	4.19	4.19	0.49359	Signaling lymphocytic activation molecule, N-terminal (2);	2.709860	0.01403	N	0.013665	T	0.66577	0.2803	L	0.52011	1.625	0.38135	D	0.93827	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.55755	-0.8091	10	0.49607	T	0.09	-1.144	12.3244	0.55003	0.0:0.0:1.0:0.0	.	80;80	B4E2E4;Q13291	.;SLAF1_HUMAN	F	80	ENSP00000306190:S80F;ENSP00000235739:S80F;ENSP00000438406:S80F;ENSP00000347333:S80F	ENSP00000235739:S80F	S	-	2	0	SLAMF1	158873781	0.954000	0.32549	0.736000	0.30914	0.965000	0.64279	3.802000	0.55553	2.619000	0.88677	0.491000	0.48974	TCT	SLAMF1	-	pfam_Sig_lymph_act_molc_N	ENSG00000117090		0.448	SLAMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLAMF1	HGNC	protein_coding	OTTHUMT00000060454.1	132	0.00	0	G			160607157	160607157	-1	no_errors	ENST00000302035	ensembl	human	known	69_37n	missense	99	13.16	15	SNP	0.823	A
SLC10A4	201780	genome.wustl.edu	37	4	48490953	48490953	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:48490953C>G	ENST00000273861.4	+	3	1530	c.1311C>G	c.(1309-1311)ctC>ctG	p.L437L	ZAR1_ENST00000327939.4_5'Flank	NM_152679.3	NP_689892.1	Q96EP9	NTCP4_HUMAN	solute carrier family 10, member 4	437						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						AGACTTCTCTCTAAATGTGGA	0.358																																						dbGAP											0													39.0	42.0	41.0					4																	48490953		2199	4283	6482	-	-	-	SO:0001819	synonymous_variant	0			BC012048	CCDS3482.1	4p12	2013-07-18	2013-07-18		ENSG00000145248	ENSG00000145248		"""Solute carriers"""	22980	protein-coding gene	gene with protein product							Standard	NM_152679		Approved	MGC29802	uc003gyc.2	Q96EP9	OTTHUMG00000102092	ENST00000273861.4:c.1311C>G	4.37:g.48490953C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WUZ2	Silent	SNP	pfam_BilAc/Na_symport	p.L437	ENST00000273861.4	37	c.1311	CCDS3482.1	4																																																																																			SLC10A4	-	NULL	ENSG00000145248		0.358	SLC10A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC10A4	HGNC	protein_coding	OTTHUMT00000219926.3	14	0.00	0	C	NM_152679		48490953	48490953	+1	no_errors	ENST00000273861	ensembl	human	known	69_37n	silent	10	37.50	6	SNP	0.906	G
SLC10A7	84068	genome.wustl.edu	37	4	147431098	147431098	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:147431098G>C	ENST00000507030.1	-	3	286	c.287C>G	c.(286-288)tCa>tGa	p.S96*	SLC10A7_ENST00000394059.4_Nonsense_Mutation_p.S96*|SLC10A7_ENST00000432059.2_Nonsense_Mutation_p.S96*|SLC10A7_ENST00000511315.1_5'UTR|SLC10A7_ENST00000511374.1_Intron|SLC10A7_ENST00000335472.7_Nonsense_Mutation_p.S96*|SLC10A7_ENST00000394062.3_Nonsense_Mutation_p.S96*|SLC10A7_ENST00000264986.3_Intron			Q0GE19	NTCP7_HUMAN	solute carrier family 10, member 7	96					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)	p.S96L(2)		endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1)	16	all_hematologic(180;0.151)					GGGTGTGATTGATAAAAGCTG	0.363																																						dbGAP											2	Substitution - Missense(2)	lung(2)											85.0	86.0	86.0					4																	147431098		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AY346324	CCDS3768.1, CCDS34073.1, CCDS75198.1	4q31.2	2013-07-18	2013-07-18	2006-12-19	ENSG00000120519	ENSG00000120519		"""Solute carriers"""	23088	protein-coding gene	gene with protein product		611459	"""chromosome 4 open reading frame 13"""	C4orf13		15932064	Standard	NM_032128		Approved	MGC25043, DKFZp566M114, DKFZp313H0531, DKFZp779O2438	uc003ikr.2	Q0GE19	OTTHUMG00000161437	ENST00000507030.1:c.287C>G	4.37:g.147431098G>C	ENSP00000421275:p.Ser96*	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2E6|A7MAX9|Q0VAP9|Q45NG1|Q45NG2|Q5H9S6|Q6P4E6|Q8IZ62|Q8NBP8|Q9H0M9	Nonsense_Mutation	SNP	pfam_BilAc/Na_symport,pirsf_Put_Na-Bile_cotransptr	p.S96*	ENST00000507030.1	37	c.287	CCDS34073.1	4	.	.	.	.	.	.	.	.	.	.	G	39	7.672047	0.98425	.	.	ENSG00000120519	ENST00000432059;ENST00000335472;ENST00000507030;ENST00000394062;ENST00000394059	.	.	.	5.47	5.47	0.80525	.	0.258301	0.39274	N	0.001406	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-16.2775	17.8694	0.88807	0.0:0.0:1.0:0.0	.	.	.	.	X	96	.	ENSP00000334594:S96X	S	-	2	0	SLC10A7	147650548	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.396000	0.90190	2.729000	0.93468	0.655000	0.94253	TCA	SLC10A7	-	pfam_BilAc/Na_symport,pirsf_Put_Na-Bile_cotransptr	ENSG00000120519		0.363	SLC10A7-009	KNOWN	basic|CCDS	protein_coding	SLC10A7	HGNC	protein_coding	OTTHUMT00000366932.1	57	0.00	0	G	NM_032128		147431098	147431098	-1	no_errors	ENST00000394062	ensembl	human	known	69_37n	nonsense	50	26.47	18	SNP	1.000	C
SLC12A3	6559	genome.wustl.edu	37	16	56916369	56916369	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:56916369C>G	ENST00000563236.1	+	13	1654	c.1629C>G	c.(1627-1629)atC>atG	p.I543M	SLC12A3_ENST00000566786.1_Missense_Mutation_p.I542M|SLC12A3_ENST00000438926.2_Missense_Mutation_p.I543M|SLC12A3_ENST00000262502.5_Missense_Mutation_p.I542M			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	543					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	ATGCCCTCATCAACTTCAGCT	0.597																																						dbGAP											0													244.0	197.0	213.0					16																	56916369		2198	4300	6498	-	-	-	SO:0001583	missense	0				CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"""Solute carriers"""	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.1629C>G	16.37:g.56916369C>G	ENSP00000456149:p.Ile543Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MSJ2|C9JNN9	Missense_Mutation	SNP	pfam_AA-permease_dom,pfam_AA_permease_N,prints_NaCl_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.I543M	ENST00000563236.1	37	c.1629	CCDS58464.1	16	.	.	.	.	.	.	.	.	.	.	C	22.2	4.253876	0.80135	.	.	ENSG00000070915	ENST00000438926;ENST00000262502	.	.	.	5.82	4.86	0.63082	Amino acid permease domain (1);	0.079475	0.64402	D	0.000001	T	0.70902	0.3277	M	0.63169	1.94	0.80722	D	1	D;D;D	0.89917	0.997;1.0;0.998	D;D;D	0.80764	0.962;0.994;0.988	T	0.72686	-0.4218	9	0.87932	D	0	.	11.3455	0.49559	0.0:0.8607:0.0:0.1393	.	542;543;543	P55017-3;P55017;P55017-2	.;S12A3_HUMAN;.	M	542;543	.	ENSP00000262502:I543M	I	+	3	3	SLC12A3	55473870	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.149000	0.50655	2.751000	0.94390	0.555000	0.69702	ATC	SLC12A3	-	pfam_AA-permease_dom,tigrfam_Na/K/Cl_cotransptS	ENSG00000070915		0.597	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC12A3	HGNC	protein_coding	OTTHUMT00000432337.1	221	0.45	1	C			56916369	56916369	+1	no_errors	ENST00000438926	ensembl	human	known	69_37n	missense	156	30.84	70	SNP	1.000	G
SLC12A4	6560	genome.wustl.edu	37	16	67986291	67986291	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:67986291G>A	ENST00000316341.3	-	7	853	c.713C>T	c.(712-714)tCg>tTg	p.S238L	SLC12A4_ENST00000572037.1_Missense_Mutation_p.S190L|SLC12A4_ENST00000537830.2_Missense_Mutation_p.S232L|SLC12A4_ENST00000576616.1_Missense_Mutation_p.S238L|SLC12A4_ENST00000541864.2_Missense_Mutation_p.S207L|SLC12A4_ENST00000422611.2_Missense_Mutation_p.S240L|SLC12A4_ENST00000338335.3_Missense_Mutation_p.S238L|SLC12A4_ENST00000572010.1_5'UTR	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	238					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)	p.S238L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	ATGAGCACCCGATGGGTAAAA	0.453																																						dbGAP											1	Substitution - Missense(1)	cervix(1)											133.0	130.0	131.0					16																	67986291		2198	4300	6498	-	-	-	SO:0001583	missense	0				CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"""Solute carriers"""	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.713C>T	16.37:g.67986291G>A	ENSP00000318557:p.Ser238Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Missense_Mutation	SNP	pfam_AA-permease_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,prints_K/Cl_cotranspt1,tigrfam_Na/K/Cl_cotransptS	p.S240L	ENST00000316341.3	37	c.719	CCDS10855.1	16	.	.	.	.	.	.	.	.	.	.	G	4.191	0.034173	0.08101	.	.	ENSG00000124067	ENST00000422611;ENST00000541864;ENST00000537830;ENST00000338335;ENST00000316341	D;D;D;D;D	0.98701	-5.08;-5.08;-5.08;-5.08;-5.08	4.96	0.568	0.17333	Amino acid permease domain (1);	0.673027	0.16309	N	0.220087	D	0.96065	0.8718	L	0.41710	1.295	0.09310	N	1	B;B;B;B;B;B	0.26672	0.04;0.02;0.156;0.001;0.002;0.02	B;B;B;B;B;B	0.25987	0.045;0.003;0.065;0.0;0.001;0.029	D	0.91613	0.5304	10	0.56958	D	0.05	.	10.1335	0.42693	0.1352:0.0:0.75:0.1148	.	240;238;207;232;238;238	F5H3C0;B4DF30;F5H066;F5H0S9;Q9UP95-2;Q9UP95	.;.;.;.;.;S12A4_HUMAN	L	240;207;232;238;238	ENSP00000395983:S240L;ENSP00000438334:S207L;ENSP00000445962:S232L;ENSP00000343374:S238L;ENSP00000318557:S238L	ENSP00000318557:S238L	S	-	2	0	SLC12A4	66543792	0.000000	0.05858	0.006000	0.13384	0.127000	0.20565	0.070000	0.14573	-0.023000	0.13963	-2.125000	0.00346	TCG	SLC12A4	-	pfam_AA-permease_dom,tigrfam_Na/K/Cl_cotransptS	ENSG00000124067		0.453	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC12A4	HGNC	protein_coding	OTTHUMT00000268864.4	138	0.00	0	G	NM_005072		67986291	67986291	-1	no_errors	ENST00000422611	ensembl	human	known	69_37n	missense	140	18.60	32	SNP	0.000	A
SLC12A6	9990	genome.wustl.edu	37	15	34528968	34528968	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:34528968C>T	ENST00000354181.3	-	23	3475	c.2983G>A	c.(2983-2985)Gaa>Aaa	p.E995K	SLC12A6_ENST00000458406.2_Missense_Mutation_p.E936K|SLC12A6_ENST00000558667.1_Missense_Mutation_p.E995K|SLC12A6_ENST00000560164.1_Missense_Mutation_p.E807K|SLC12A6_ENST00000560611.1_Missense_Mutation_p.E995K|SLC12A6_ENST00000290209.5_Missense_Mutation_p.E944K|SLC12A6_ENST00000397702.2_Missense_Mutation_p.E936K|SLC12A6_ENST00000397707.2_Missense_Mutation_p.E980K|SLC12A6_ENST00000558589.1_Missense_Mutation_p.E986K|SLC12A6_ENST00000451844.2_Missense_Mutation_p.E807K			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	995					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	GACCTTTGTTCCATCATCAAA	0.458																																						dbGAP											0													221.0	190.0	200.0					15																	34528968		2201	4298	6499	-	-	-	SO:0001583	missense	0			AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"""Solute carriers"""	10914	protein-coding gene	gene with protein product		604878	"""agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"""	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.2983G>A	15.37:g.34528968C>T	ENSP00000346112:p.Glu995Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Missense_Mutation	SNP	pfam_AA-permease_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.E986K	ENST00000354181.3	37	c.2956	CCDS58352.1	15	.	.	.	.	.	.	.	.	.	.	C	35	5.564443	0.96527	.	.	ENSG00000140199	ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406;ENST00000451844	D;D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25;-2.25	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.94545	0.8243	M	0.90369	3.11	0.80722	D	1	D;D;D;P	0.69078	0.995;0.997;0.991;0.756	P;D;P;P	0.70227	0.897;0.968;0.839;0.521	D	0.95328	0.8427	10	0.87932	D	0	.	17.5803	0.87965	0.0:1.0:0.0:0.0	.	980;995;944;807	Q9UHW9-3;Q9UHW9;A0AV76;B3KXX3	.;S12A6_HUMAN;.;.	K	944;980;986;936;936;807	ENSP00000290209:E944K;ENSP00000380819:E980K;ENSP00000380814:E936K;ENSP00000387725:E936K;ENSP00000390199:E807K	ENSP00000290209:E944K	E	-	1	0	SLC12A6	32316260	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	7.651000	0.83577	2.692000	0.91855	0.650000	0.86243	GAA	SLC12A6	-	tigrfam_Na/K/Cl_cotransptS	ENSG00000140199		0.458	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	SLC12A6	HGNC	protein_coding	OTTHUMT00000417991.1	196	0.00	0	C	NM_005135		34528968	34528968	-1	no_errors	ENST00000558589	ensembl	human	known	69_37n	missense	153	15.00	27	SNP	1.000	T
SLC13A1	6561	genome.wustl.edu	37	7	122774486	122774486	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:122774486G>T	ENST00000194130.2	-	8	949	c.910C>A	c.(910-912)Cag>Aag	p.Q304K	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	304					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	AAAAGCCACTGAAGCCAGATC	0.418																																						dbGAP											0													122.0	104.0	110.0					7																	122774486		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"""Solute carriers"""	10916	protein-coding gene	gene with protein product		606193	"""solute carrier family 13 (sodium/sulphate symporters), member 1"""			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.910C>A	7.37:g.122774486G>T	ENSP00000194130:p.Gln304Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H5Z0	Missense_Mutation	SNP	pfam_Na/sul_symport,pfam_Cit_transptr-like_dom	p.Q304K	ENST00000194130.2	37	c.910	CCDS5786.1	7	.	.	.	.	.	.	.	.	.	.	G	19.21	3.783755	0.70222	.	.	ENSG00000081800	ENST00000194130	T	0.03152	4.03	6.04	6.04	0.98038	.	0.157354	0.64402	D	0.000019	T	0.10423	0.0255	M	0.79693	2.465	0.80722	D	1	P;P	0.39044	0.656;0.656	B;B	0.40982	0.345;0.345	T	0.01621	-1.1310	10	0.37606	T	0.19	-26.8223	18.0887	0.89466	0.0:0.0:1.0:0.0	.	304;304	A4D0X1;Q9BZW2	.;S13A1_HUMAN	K	304	ENSP00000194130:Q304K	ENSP00000194130:Q304K	Q	-	1	0	SLC13A1	122561722	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.483000	0.81158	2.873000	0.98535	0.563000	0.77884	CAG	SLC13A1	-	pfam_Na/sul_symport	ENSG00000081800		0.418	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC13A1	HGNC	protein_coding	OTTHUMT00000347404.1	76	0.00	0	G	NM_022444		122774486	122774486	-1	no_errors	ENST00000194130	ensembl	human	known	69_37n	missense	73	36.52	42	SNP	1.000	T
SLC13A1	6561	genome.wustl.edu	37	7	122811951	122811951	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:122811951G>C	ENST00000194130.2	-	3	275	c.236C>G	c.(235-237)tCt>tGt	p.S79C	SLC13A1_ENST00000539873.1_Missense_Mutation_p.S15C	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	79					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	GAAATAAGCAGATGCCACCTG	0.333																																						dbGAP											0													88.0	83.0	85.0					7																	122811951		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"""Solute carriers"""	10916	protein-coding gene	gene with protein product		606193	"""solute carrier family 13 (sodium/sulphate symporters), member 1"""			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.236C>G	7.37:g.122811951G>C	ENSP00000194130:p.Ser79Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H5Z0	Missense_Mutation	SNP	pfam_Na/sul_symport,pfam_Cit_transptr-like_dom	p.S79C	ENST00000194130.2	37	c.236	CCDS5786.1	7	.	.	.	.	.	.	.	.	.	.	G	19.10	3.762423	0.69763	.	.	ENSG00000081800	ENST00000194130;ENST00000539873	T;T	0.03635	3.86;3.86	5.61	5.61	0.85477	.	0.238525	0.44483	D	0.000455	T	0.25938	0.0632	M	0.91818	3.245	0.51482	D	0.999924	D	0.89917	1.0	D	0.74023	0.982	T	0.02574	-1.1139	10	0.52906	T	0.07	.	18.9964	0.92815	0.0:0.0:1.0:0.0	.	79	Q9BZW2	S13A1_HUMAN	C	79;15	ENSP00000194130:S79C;ENSP00000441309:S15C	ENSP00000194130:S79C	S	-	2	0	SLC13A1	122599187	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	3.958000	0.56737	2.808000	0.96608	0.655000	0.94253	TCT	SLC13A1	-	pfam_Na/sul_symport	ENSG00000081800		0.333	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC13A1	HGNC	protein_coding	OTTHUMT00000347404.1	98	0.00	0	G	NM_022444		122811951	122811951	-1	no_errors	ENST00000194130	ensembl	human	known	69_37n	missense	75	20.21	19	SNP	1.000	C
SLC13A2	9058	genome.wustl.edu	37	17	26821425	26821425	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:26821425G>A	ENST00000314669.5	+	9	1623	c.1203G>A	c.(1201-1203)ctG>ctA	p.L401L	SLC13A2_ENST00000444914.3_Silent_p.L450L|SLC13A2_ENST00000545060.1_Silent_p.L358L|SLC13A2_ENST00000537681.1_Silent_p.L330L	NM_003984.3	NP_003975.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	401					dicarboxylic acid transport (GO:0006835)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	low-affinity sodium:dicarboxylate symporter activity (GO:0015361)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CAGGGAAGCTGAAGGCCCCTC	0.567											OREG0024276	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													121.0	121.0	121.0					17																	26821425		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U26209	CCDS11231.1, CCDS54098.1	17p13.2	2013-05-22			ENSG00000007216	ENSG00000007216		"""Solute carriers"""	10917	protein-coding gene	gene with protein product		604148				8967342, 10343111	Standard	NM_001145975		Approved	NaDC-1	uc010wan.2	Q13183	OTTHUMG00000132523	ENST00000314669.5:c.1203G>A	17.37:g.26821425G>A		Somatic	789	WXS	Illumina GAIIx	Phase_IV	B2RBI9|B4DPL1|E7ETH5|Q4VAR7	Silent	SNP	pfam_Na/sul_symport,pfam_Cit_transptr-like_dom	p.L450	ENST00000314669.5	37	c.1350	CCDS11231.1	17																																																																																			SLC13A2	-	pfam_Na/sul_symport	ENSG00000007216		0.567	SLC13A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC13A2	HGNC	protein_coding	OTTHUMT00000255722.1	82	0.00	0	G	NM_003984		26821425	26821425	+1	no_errors	ENST00000444914	ensembl	human	known	69_37n	silent	95	19.49	23	SNP	0.999	A
SLC13A3	64849	genome.wustl.edu	37	20	45212257	45212257	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:45212257G>A	ENST00000279027.4	-	9	1191	c.1173C>T	c.(1171-1173)ttC>ttT	p.F391F	SLC13A3_ENST00000435032.1_Missense_Mutation_p.S14F|SLC13A3_ENST00000290317.5_Silent_p.F344F|SLC13A3_ENST00000472148.1_Silent_p.F309F|SLC13A3_ENST00000495082.1_Silent_p.F344F|SLC13A3_ENST00000464518.1_5'UTR|SLC13A3_ENST00000413164.2_Silent_p.F341F|SLC13A3_ENST00000396360.1_Silent_p.F309F	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	391					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-affinity sodium:dicarboxylate symporter activity (GO:0015362)			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	GGGACGGGAAGAAGAACAAGA	0.552																																						dbGAP											0													132.0	112.0	119.0					20																	45212257		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296		"""Solute carriers"""	14430	protein-coding gene	gene with protein product		606411				10794676, 10992006	Standard	NM_001011554		Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.1173C>T	20.37:g.45212257G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Missense_Mutation	SNP	pfam_Na/sul_symport	p.S14F	ENST00000279027.4	37	c.41	CCDS13400.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.53|18.53	3.642959|3.642959	0.67244|0.67244	.|.	.|.	ENSG00000158296|ENSG00000158296	ENST00000450298|ENST00000435032	.|T	.|0.30981	.|1.51	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	.|.	.|.	.|.	.|.	T|T	0.21145|0.21145	0.0509|0.0509	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|B	.|0.25521	.|0.128	.|B	.|0.17433	.|0.018	T|T	0.05852|0.05852	-1.0860|-1.0860	4|7	.|.	.|.	.|.	-37.5457|-37.5457	13.1407|13.1407	0.59432|0.59432	0.0729:0.0:0.9271:0.0|0.0729:0.0:0.9271:0.0	.|.	.|14	.|B4E181	.|.	F|F	221|14	.|ENSP00000403394:S14F	.|.	L|S	-|-	1|2	0|0	SLC13A3|SLC13A3	44645664|44645664	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.961000|0.961000	0.63080|0.63080	5.713000|5.713000	0.68415|0.68415	2.699000|2.699000	0.92147|0.92147	0.655000|0.655000	0.94253|0.94253	CTT|TCT	SLC13A3	-	NULL	ENSG00000158296		0.552	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC13A3	HGNC	protein_coding	OTTHUMT00000080329.2	67	0.00	0	G			45212257	45212257	-1	no_errors	ENST00000435032	ensembl	human	known	69_37n	missense	114	16.79	23	SNP	1.000	A
SLC15A2	6565	genome.wustl.edu	37	3	121649779	121649779	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:121649779G>C	ENST00000489711.1	+	18	2034	c.1646G>C	c.(1645-1647)aGa>aCa	p.R549T	SLC15A2_ENST00000465060.1_3'UTR|SLC15A2_ENST00000295605.2_Missense_Mutation_p.R518T	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	549					drug transport (GO:0015893)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|dipeptide transporter activity (GO:0042936)|high-affinity oligopeptide transporter activity (GO:0015334)|peptide:proton symporter activity (GO:0015333)			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Fosinopril(DB00492)|Glyburide(DB01016)|Moexipril(DB00691)|Nateglinide(DB00731)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Tranexamic Acid(DB00302)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	TCTGCTTATAGAACTGTGCAA	0.393																																						dbGAP											0													194.0	181.0	186.0					3																	121649779		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC044572	CCDS3007.1, CCDS54631.1	3q21.1	2013-07-18	2013-07-18		ENSG00000163406	ENSG00000163406		"""Solute carriers"""	10921	protein-coding gene	gene with protein product		602339	"""solute carrier family 15 (H+/peptide transporter), member 2"""			7756356	Standard	NM_021082		Approved	PEPT2	uc003eep.2	Q16348	OTTHUMG00000159423	ENST00000489711.1:c.1646G>C	3.37:g.121649779G>C	ENSP00000417085:p.Arg549Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1A5|B4E2A7	Missense_Mutation	SNP	pfam_Oligopeptide_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_Pep_H_symport	p.R549T	ENST00000489711.1	37	c.1646	CCDS3007.1	3	.	.	.	.	.	.	.	.	.	.	G	0.808	-0.752992	0.03041	.	.	ENSG00000163406	ENST00000489711;ENST00000542599;ENST00000295605	T;T	0.02552	4.54;4.25	5.42	-0.566	0.11767	.	1.175650	0.05795	N	0.611053	T	0.01454	0.0047	N	0.08118	0	0.09310	N	0.999998	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.48490	-0.9031	10	0.13470	T	0.59	-1.8218	1.3809	0.02230	0.3195:0.1358:0.4051:0.1396	.	518;549	B4E2A7;Q16348	.;S15A2_HUMAN	T	549;511;518	ENSP00000417085:R549T;ENSP00000295605:R518T	ENSP00000295605:R518T	R	+	2	0	SLC15A2	123132469	0.001000	0.12720	0.129000	0.21949	0.527000	0.34593	-0.496000	0.06436	-0.060000	0.13132	-0.145000	0.13849	AGA	SLC15A2	-	tigrfam_Pep_H_symport	ENSG00000163406		0.393	SLC15A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC15A2	HGNC	protein_coding	OTTHUMT00000355239.1	171	0.00	0	G	NM_021082		121649779	121649779	+1	no_errors	ENST00000489711	ensembl	human	known	69_37n	missense	180	22.41	52	SNP	0.079	C
SLC15A4	121260	genome.wustl.edu	37	12	129299502	129299502	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:129299502G>A	ENST00000266771.5	-	2	699	c.660C>T	c.(658-660)gtC>gtT	p.V220V	SLC15A4_ENST00000539703.1_5'UTR	NM_145648.3	NP_663623.1	Q8N697	S15A4_HUMAN	solute carrier family 15 (oligopeptide transporter), member 4	220					ion transport (GO:0006811)|oligopeptide transport (GO:0006857)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	L-histidine transmembrane transporter activity (GO:0005290)|symporter activity (GO:0015293)			endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		TGACAAAGCTGACGTTCTGCT	0.498																																						dbGAP											0													241.0	222.0	228.0					12																	129299502		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY038999	CCDS9264.1	12q24.32	2013-07-18	2013-07-18		ENSG00000139370	ENSG00000139370		"""Solute carriers"""	23090	protein-coding gene	gene with protein product		615806	"""solute carrier family 15, member 4"""			11741232	Standard	NM_145648		Approved	PHT1, PTR4	uc001uhu.2	Q8N697	OTTHUMG00000168415	ENST00000266771.5:c.660C>T	12.37:g.129299502G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8Y9|B3KTK1|Q71M34|Q7Z5F8|Q8TAH0	Nonsense_Mutation	SNP	pfam_Oligopeptide_transporter,superfamily_MFS_dom_general_subst_transpt	p.Q166*	ENST00000266771.5	37	c.496	CCDS9264.1	12																																																																																			SLC15A4	-	pfam_Oligopeptide_transporter,superfamily_MFS_dom_general_subst_transpt	ENSG00000139370		0.498	SLC15A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC15A4	HGNC	protein_coding	OTTHUMT00000399663.1	90	0.00	0	G	NM_145648		129299502	129299502	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000376744	ensembl	human	known	69_37n	nonsense	101	17.89	22	SNP	0.998	A
SLC16A1	6566	genome.wustl.edu	37	1	113460021	113460021	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:113460021G>A	ENST00000538576.1	-	4	1838	c.1007C>T	c.(1006-1008)tCc>tTc	p.S336F	SLC16A1_ENST00000369626.3_Missense_Mutation_p.S336F|SLC16A1_ENST00000433570.4_Missense_Mutation_p.S336F	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	336					behavioral response to nutrient (GO:0051780)|blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|cellular response to organic cyclic compound (GO:0071407)|centrosome organization (GO:0051297)|glucose homeostasis (GO:0042593)|leukocyte migration (GO:0050900)|lipid metabolic process (GO:0006629)|mevalonate transport (GO:0015728)|monocarboxylic acid transport (GO:0015718)|plasma membrane lactate transport (GO:0035879)|pyruvate metabolic process (GO:0006090)|regulation of insulin secretion (GO:0050796)|response to food (GO:0032094)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	mevalonate transmembrane transporter activity (GO:0015130)|monocarboxylic acid transmembrane transporter activity (GO:0008028)|organic cyclic compound binding (GO:0097159)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Acetic acid(DB03166)|Aminohippurate(DB00345)|Ampicillin(DB00415)|Foscarnet(DB00529)|Gamma Hydroxybutyric Acid(DB01440)|Methotrexate(DB00563)|Nateglinide(DB00731)|Niacin(DB00627)|Niflumic Acid(DB04552)|Pravastatin(DB00175)|Probenecid(DB01032)|Pyruvic acid(DB00119)|Salicylic acid(DB00936)|Valproic Acid(DB00313)	TGCAACAACGGAAGCCGCAAA	0.458																																						dbGAP											0													64.0	52.0	56.0					1																	113460021		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC026317	CCDS858.1	1p12	2013-07-18	2013-07-18		ENSG00000155380	ENSG00000155380		"""Solute carriers"""	10922	protein-coding gene	gene with protein product		600682	"""solute carrier family 16 (monocarboxylic acid transporters), member 1"", ""solute carrier family 16, member 1 (monocarboxylic acid transporter 1)"""			8124722, 7835905	Standard	NM_003051		Approved	MCT, MCT1	uc001ecy.3	P53985	OTTHUMG00000012129	ENST00000538576.1:c.1007C>T	1.37:g.113460021G>A	ENSP00000441065:p.Ser336Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q49A45|Q5T8R6|Q9NSJ9	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt	p.S336F	ENST00000538576.1	37	c.1007	CCDS858.1	1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.483294	0.63962	.	.	ENSG00000155380	ENST00000369626;ENST00000538576;ENST00000458229;ENST00000433570	D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52	5.56	5.56	0.83823	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.104676	0.64402	D	0.000002	D	0.89729	0.6799	M	0.83483	2.645	0.80722	D	1	D;D	0.64830	0.99;0.994	D;D	0.73708	0.953;0.981	D	0.90250	0.4293	10	0.87932	D	0	.	19.4914	0.95050	0.0:0.0:1.0:0.0	.	336;336	Q49A45;P53985	.;MOT1_HUMAN	F	336	ENSP00000358640:S336F;ENSP00000441065:S336F;ENSP00000416167:S336F;ENSP00000445061:S336F	ENSP00000358640:S336F	S	-	2	0	SLC16A1	113261544	1.000000	0.71417	0.956000	0.39512	0.124000	0.20399	9.801000	0.99128	2.771000	0.95319	0.563000	0.77884	TCC	SLC16A1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt	ENSG00000155380		0.458	SLC16A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A1	HGNC	protein_coding	OTTHUMT00000033539.1	34	0.00	0	G	NM_003051		113460021	113460021	-1	no_errors	ENST00000369626	ensembl	human	known	69_37n	missense	29	27.50	11	SNP	0.995	A
SLC16A14	151473	genome.wustl.edu	37	2	230911083	230911083	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:230911083G>A	ENST00000295190.4	-	4	1217	c.759C>T	c.(757-759)ctC>ctT	p.L253L		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	253						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		CCTCGTTCCCGAGCCCACCAT	0.587																																						dbGAP											0													116.0	120.0	119.0					2																	230911083		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BN000146	CCDS2473.1	2q37.1	2013-07-18	2013-07-18		ENSG00000163053	ENSG00000163053		"""Solute carriers"""	26417	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 14"""		"""solute carrier family 16 (monocarboxylic acid transporters), member 14"""				Standard	NM_152527		Approved	FLJ30794, MCT14	uc002vqd.2	Q7RTX9	OTTHUMG00000133205	ENST00000295190.4:c.759C>T	2.37:g.230911083G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8KA08|Q53R92|Q96NI7	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.L253	ENST00000295190.4	37	c.759	CCDS2473.1	2																																																																																			SLC16A14	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000163053		0.587	SLC16A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A14	HGNC	protein_coding	OTTHUMT00000256918.2	60	0.00	0	G	NM_152527		230911083	230911083	-1	no_errors	ENST00000295190	ensembl	human	known	69_37n	silent	40	52.38	44	SNP	0.000	A
SLC17A4	10050	genome.wustl.edu	37	6	25776933	25776933	+	Silent	SNP	C	C	T	rs201452377		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:25776933C>T	ENST00000377905.4	+	9	1217	c.1098C>T	c.(1096-1098)atC>atT	p.I366I	SLC17A4_ENST00000439485.2_Silent_p.I136I|SLC17A4_ENST00000397076.2_Silent_p.I136I	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	366					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)			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TCATCACCATCAGGAAACTCT	0.483													C|||	1	0.000199681	0.0	0.0	5008	,	,		19677	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													160.0	145.0	150.0					6																	25776933		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB020527	CCDS4564.1, CCDS75411.1	6p22.2	2013-07-18	2013-07-18		ENSG00000146039	ENSG00000146039		"""Solute carriers"""	10932	protein-coding gene	gene with protein product		604216	"""solute carrier family 17 (sodium phosphate), member 4"""			10319585	Standard	NM_005495		Approved	KIAA2138	uc003nfe.3	Q9Y2C5	OTTHUMG00000014410	ENST00000377905.4:c.1098C>T	6.37:g.25776933C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DDV9|E7EPE8|E7EU17|Q32MB7|Q32MB8	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.I366	ENST00000377905.4	37	c.1098	CCDS4564.1	6																																																																																			SLC17A4	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000146039		0.483	SLC17A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A4	HGNC	protein_coding	OTTHUMT00000040068.1	134	0.00	0	C			25776933	25776933	+1	no_errors	ENST00000377905	ensembl	human	known	69_37n	silent	112	25.33	38	SNP	0.995	T
SLC17A2	10246	genome.wustl.edu	37	6	25921449	25921449	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:25921449C>T	ENST00000265425.3	-	3	452	c.432G>A	c.(430-432)gtG>gtA	p.V144V	SLC17A2_ENST00000360488.3_Silent_p.V144V|SLC17A2_ENST00000377850.3_Silent_p.V144V			O00624	NPT3_HUMAN	solute carrier family 17, member 2	144					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						TGACCAAAATCACTCCGAAGT	0.448																																						dbGAP											0													123.0	111.0	115.0					6																	25921449		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			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.432G>A	6.37:g.25921449C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NK81|A6NLD6|Q5TB84|Q76P85	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.V144	ENST00000265425.3	37	c.432		6																																																																																			SLC17A2	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000112337		0.448	SLC17A2-002	KNOWN	basic|appris_principal	protein_coding	SLC17A2	HGNC	protein_coding	OTTHUMT00000040075.1	103	0.00	0	C			25921449	25921449	-1	no_errors	ENST00000377850	ensembl	human	known	69_37n	silent	78	23.53	24	SNP	0.742	T
SLC22A12	116085	genome.wustl.edu	37	11	64359229	64359229	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:64359229G>C	ENST00000377574.1	+	1	948	c.201G>C	c.(199-201)ttG>ttC	p.L67F	SLC22A12_ENST00000377567.2_Missense_Mutation_p.L67F|SLC22A12_ENST00000473690.1_5'UTR|SLC22A12_ENST00000377572.1_Missense_Mutation_p.L67F|SLC22A12_ENST00000336464.7_Missense_Mutation_p.L67F	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	67					cellular homeostasis (GO:0019725)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|urate transmembrane transporter activity (GO:0015143)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27					Losartan(DB00678)|Probenecid(DB01032)	TAGGGAGCTTGAGTCCTGAGG	0.677																																						dbGAP											0													41.0	43.0	42.0					11																	64359229		2201	4297	6498	-	-	-	SO:0001583	missense	0			AB071863	CCDS8075.1, CCDS60835.1, CCDS60836.1	11q13.1	2013-05-22	2008-01-11		ENSG00000197891	ENSG00000197891		"""Solute carriers"""	17989	protein-coding gene	gene with protein product		607096	"""solute carrier family 22 (organic anion/cation transporter), member 12"""			12024214	Standard	NM_144585		Approved	OAT4L, RST, URAT1	uc009yps.2	Q96S37	OTTHUMG00000045213	ENST00000377574.1:c.201G>C	11.37:g.64359229G>C	ENSP00000366797:p.Leu67Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B7WPG1|G3XAN7|Q19PF7|Q19PF8|Q19PF9|Q19PG0|Q6UXW3|Q96DT2	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.L67F	ENST00000377574.1	37	c.201	CCDS8075.1	11	.	.	.	.	.	.	.	.	.	.	G	3.906	-0.021121	0.07634	.	.	ENSG00000197891	ENST00000377567;ENST00000377574;ENST00000377572;ENST00000336464	T;T;T;T	0.36878	1.23;1.23;1.23;1.23	4.14	0.907	0.19321	.	29.828900	0.00166	N	0.000009	T	0.47229	0.1434	M	0.81682	2.555	0.09310	N	1	B;B;P;B	0.48350	0.071;0.071;0.909;0.071	B;B;P;B	0.48524	0.038;0.038;0.58;0.038	T	0.11060	-1.0603	10	0.36615	T	0.2	.	2.3524	0.04287	0.1126:0.1812:0.5042:0.202	.	67;67;67;67	B5ME56;B3KV05;Q96S37-2;Q96S37	.;.;.;S22AC_HUMAN	F	67	ENSP00000366790:L67F;ENSP00000366797:L67F;ENSP00000366795:L67F;ENSP00000336836:L67F	ENSP00000336836:L67F	L	+	3	2	SLC22A12	64115805	0.059000	0.20769	0.000000	0.03702	0.000000	0.00434	1.542000	0.36137	-0.135000	0.11495	-0.439000	0.05793	TTG	SLC22A12	-	NULL	ENSG00000197891		0.677	SLC22A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A12	HGNC	protein_coding	OTTHUMT00000104966.2	11	0.00	0	G	NM_144585		64359229	64359229	+1	no_errors	ENST00000377574	ensembl	human	known	69_37n	missense	39	15.22	7	SNP	0.011	C
SLC22A14	9389	genome.wustl.edu	37	3	38354926	38354926	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:38354926C>T	ENST00000273173.4	+	6	1204	c.1113C>T	c.(1111-1113)ttC>ttT	p.F371F	SLC22A14_ENST00000448498.1_Silent_p.F371F	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	371					organic cation transport (GO:0015695)	integral component of plasma membrane (GO:0005887)	organic cation transmembrane transporter activity (GO:0015101)			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		TCCTGGACTTCTGTAAGAATA	0.592																																						dbGAP											0													119.0	108.0	112.0					3																	38354926		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB011082	CCDS2677.1	3p21.3	2013-05-22	2008-01-11	2003-10-15	ENSG00000144671	ENSG00000144671		"""Solute carriers"""	8495	protein-coding gene	gene with protein product		604048	"""organic cationic transporter-like 4"", ""solute carrier family 22 (organic cation transporter), member 14"""	ORCTL4		10072596	Standard	NM_004803		Approved	OCTL2	uc003cib.2	Q9Y267	OTTHUMG00000131082	ENST00000273173.4:c.1113C>T	3.37:g.38354926C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVS9|A1L4H6|B2RCX3|Q6DJT3	Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.F371	ENST00000273173.4	37	c.1113	CCDS2677.1	3																																																																																			SLC22A14	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000144671		0.592	SLC22A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A14	HGNC	protein_coding	OTTHUMT00000253742.3	118	0.00	0	C	NM_004803		38354926	38354926	+1	no_errors	ENST00000273173	ensembl	human	known	69_37n	silent	115	19.01	27	SNP	0.798	T
SLC22A2	6582	genome.wustl.edu	37	6	160670411	160670411	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:160670411C>T	ENST00000366953.3	-	4	937	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K	SLC22A2_ENST00000366952.1_Missense_Mutation_p.E206K|SLC22A2_ENST00000491092.1_5'UTR	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	227					body fluid secretion (GO:0007589)|drug transmembrane transport (GO:0006855)|histamine transport (GO:0051608)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|organic cation transport (GO:0015695)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|steroid binding (GO:0005496)	p.E227K(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Chlorphenamine(DB01114)|Choline(DB00122)|Cimetidine(DB00501)|Cisplatin(DB00515)|Cladribine(DB00242)|Cocaine(DB00907)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Desipramine(DB01151)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Famotidine(DB00927)|Flurazepam(DB00690)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Memantine(DB01043)|Metformin(DB00331)|Metoprolol(DB00264)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Oxprenolol(DB01580)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Propranolol(DB00571)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Reserpine(DB00206)|Thiamine(DB00152)|Tubocurarine(DB01199)|Vinblastine(DB00570)|Zidovudine(DB00495)	CCAACAAATTCTGTAACTGCA	0.433																																						dbGAP											1	Substitution - Missense(1)	lung(1)											103.0	97.0	99.0					6																	160670411		2203	4300	6503	-	-	-	SO:0001583	missense	0			X98333	CCDS5276.1	6q25.3	2013-05-22			ENSG00000112499	ENSG00000112499		"""Solute carriers"""	10966	protein-coding gene	gene with protein product		602608				9605850	Standard	NM_003058		Approved	OCT2	uc003qtf.3	O15244	OTTHUMG00000015950	ENST00000366953.3:c.679G>A	6.37:g.160670411C>T	ENSP00000355920:p.Glu227Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T7Q6|Q6PIQ8|Q8NG62|Q9NQB9	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.E227K	ENST00000366953.3	37	c.679	CCDS5276.1	6	.	.	.	.	.	.	.	.	.	.	C	36	5.674301	0.96764	.	.	ENSG00000112499	ENST00000366953;ENST00000366952	D;D	0.85955	-2.05;-2.05	5.31	5.31	0.75309	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.96087	0.8725	H	0.99074	4.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97582	1.0111	10	0.87932	D	0	.	19.1694	0.93570	0.0:1.0:0.0:0.0	.	227;227	O15244;O15244-2	S22A2_HUMAN;.	K	227;206	ENSP00000355920:E227K;ENSP00000355919:E206K	ENSP00000355919:E206K	E	-	1	0	SLC22A2	160590401	1.000000	0.71417	0.999000	0.59377	0.951000	0.60555	7.126000	0.77201	2.765000	0.95021	0.655000	0.94253	GAA	SLC22A2	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	ENSG00000112499		0.433	SLC22A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A2	HGNC	protein_coding	OTTHUMT00000042943.1	60	0.00	0	C	NM_003058		160670411	160670411	-1	no_errors	ENST00000366953	ensembl	human	known	69_37n	missense	40	27.27	15	SNP	0.998	T
SLC22A24	283238	genome.wustl.edu	37	11	62886349	62886349	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:62886349C>T	ENST00000326192.5	-	4	1306	c.865G>A	c.(865-867)Gag>Aag	p.E289K	SLC22A24_ENST00000417740.1_Intron			Q8N4F4	S22AO_HUMAN	solute carrier family 22, member 24	289					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				kidney(1)|stomach(1)	2						ACCATAGCCTCGCTTACAGGC	0.458																																						dbGAP											0													126.0	107.0	112.0					11																	62886349		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS73308.1	11q12.3	2013-05-22			ENSG00000197658	ENSG00000197658		"""Solute carriers"""	28542	protein-coding gene	gene with protein product		611698				17714910	Standard	NM_001136506		Approved	MGC34821, NET46	uc021qkp.1	Q8N4F4	OTTHUMG00000165372	ENST00000326192.5:c.865G>A	11.37:g.62886349C>T	ENSP00000321549:p.Glu289Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.E289K	ENST00000326192.5	37	c.865		11	.	.	.	.	.	.	.	.	.	.	C	10.50	1.366404	0.24771	.	.	ENSG00000197658	ENST00000326192	T	0.56776	0.44	2.95	-2.46	0.06461	Major facilitator superfamily domain (1);	0.154623	0.39020	U	0.001488	T	0.25419	0.0618	.	.	.	0.09310	N	1	P	0.40578	0.722	B	0.39771	0.309	T	0.29336	-1.0015	9	0.15066	T	0.55	.	0.3979	0.00421	0.188:0.2978:0.1847:0.3295	.	289	Q8N4F4	S22AO_HUMAN	K	289	ENSP00000321549:E289K	ENSP00000321549:E289K	E	-	1	0	SLC22A24	62642925	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.611000	0.05622	-0.533000	0.06323	-0.218000	0.12543	GAG	SLC22A24	-	pfam_MFS,pfscan_MFS_dom	ENSG00000197658		0.458	SLC22A24-001	KNOWN	non_canonical_conserved|basic	protein_coding	SLC22A24	HGNC	protein_coding	OTTHUMT00000383749.1	67	0.00	0	C	NM_173586		62886349	62886349	-1	no_errors	ENST00000326192	ensembl	human	known	69_37n	missense	80	18.37	18	SNP	0.000	T
SLC22A20	440044	genome.wustl.edu	37	11	65004159	65004159	+	RNA	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:65004159G>A	ENST00000525437.1	+	0	1409							A6NK97	S22AK_HUMAN	solute carrier family 22, member 20						ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						CCCACAGGCAGATGGGGATGG	0.662																																						dbGAP											0													33.0	36.0	35.0					11																	65004159		1977	4133	6110	-	-	-			0			DQ053017		11q13.1	2014-02-20			ENSG00000197847	ENSG00000197847		"""Solute carriers"""	29867	other	unknown		611696				15369770, 16478971	Standard	NM_001004326		Approved	Oat6, FLJ16331	uc021qlh.1	A6NK97	OTTHUMG00000165615		11.37:g.65004159G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B9EJB2|Q6ZN88	RNA	SNP	-	NULL	ENST00000525437.1	37	NULL		11																																																																																			SLC22A20	-	-	ENSG00000197847		0.662	SLC22A20-003	KNOWN	basic	processed_transcript	SLC22A20	HGNC	pseudogene	OTTHUMT00000385336.1	21	0.00	0	G	NM_001004326		65004159	65004159	+1	no_errors	ENST00000525437	ensembl	human	known	69_37n	rna	37	22.92	11	SNP	1.000	A
SLC22A4	6583	genome.wustl.edu	37	5	131663033	131663033	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:131663033C>G	ENST00000200652.3	+	5	1062	c.888C>G	c.(886-888)atC>atG	p.I296M	AC034220.3_ENST00000417795.1_RNA	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	296					body fluid secretion (GO:0007589)|carnitine metabolic process (GO:0009437)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cation transmembrane transport (GO:0098655)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|cation:cation antiporter activity (GO:0015491)|nucleotide binding (GO:0000166)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)|symporter activity (GO:0015293)			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Amiloride(DB00594)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Desipramine(DB01151)|Guanidine(DB00536)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|L-Lysine(DB00123)|Levofloxacin(DB01137)|Mepyramine(DB06691)|Nicotine(DB00184)|Ofloxacin(DB01165)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Spermine(DB00127)|Testosterone(DB00624)|Tiotropium(DB01409)|Verapamil(DB00661)	CTGAAGATATCATCCAAAAAG	0.353																																						dbGAP											0													71.0	70.0	70.0					5																	131663033		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007448	CCDS4153.1	5q23.3	2013-07-18	2013-07-18		ENSG00000197208	ENSG00000197208		"""Solute carriers"""	10968	protein-coding gene	gene with protein product		604190	"""solute carrier family 22 (organic cation/ergothioneine transporter), member 4"""			9426230, 15795384	Standard	NM_003059		Approved	OCTN1, MGC34546	uc003kwq.3	Q9H015	OTTHUMG00000059648	ENST00000200652.3:c.888C>G	5.37:g.131663033C>G	ENSP00000200652:p.Ile296Met	Somatic		WXS	Illumina GAIIx	Phase_IV	O14546	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.I296M	ENST00000200652.3	37	c.888	CCDS4153.1	5	.	.	.	.	.	.	.	.	.	.	C	17.04	3.286653	0.59867	.	.	ENSG00000197208	ENST00000200652	T	0.75050	-0.9	5.85	4.98	0.66077	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.248227	0.42682	D	0.000667	D	0.86201	0.5876	M	0.91038	3.17	0.49389	D	0.999786	D	0.89917	1.0	D	0.83275	0.996	D	0.86372	0.1724	10	0.72032	D	0.01	.	4.5167	0.11939	0.286:0.5246:0.0:0.1894	.	296	Q9H015	S22A4_HUMAN	M	296	ENSP00000200652:I296M	ENSP00000200652:I296M	I	+	3	3	SLC22A4	131690932	0.981000	0.34729	1.000000	0.80357	0.991000	0.79684	0.103000	0.15292	1.481000	0.48307	0.655000	0.94253	ATC	SLC22A4	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	ENSG00000197208		0.353	SLC22A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A4	HGNC	protein_coding	OTTHUMT00000132661.1	88	0.00	0	C	NM_003059		131663033	131663033	+1	no_errors	ENST00000200652	ensembl	human	known	69_37n	missense	50	26.47	18	SNP	1.000	G
SLC23A2	9962	genome.wustl.edu	37	20	4839974	4839974	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:4839974C>A	ENST00000379333.1	-	16	2073	c.1681G>T	c.(1681-1683)Ggg>Tgg	p.G561W	SLC23A2_ENST00000338244.1_Missense_Mutation_p.G561W|SLC23A2_ENST00000424750.2_Missense_Mutation_p.G447W	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	561					L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|molecular hydrogen transport (GO:0015993)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)|sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						ACACAGCCCCCTACAAACATA	0.398																																						dbGAP											0													181.0	164.0	170.0					20																	4839974		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF058319	CCDS13085.1	20p13	2013-07-18	2013-07-18	2003-03-21	ENSG00000089057	ENSG00000089057		"""Solute carriers"""	10973	protein-coding gene	gene with protein product		603791	"""solute carrier family 23 (nucleobase transporters), member 1"""	SLC23A1		9804989, 10331392	Standard	NM_005116		Approved	SVCT2, KIAA0238, YSPL2	uc002wlh.1	Q9UGH3	OTTHUMG00000031793	ENST00000379333.1:c.1681G>T	20.37:g.4839974C>A	ENSP00000368637:p.Gly561Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	Missense_Mutation	SNP	pfam_Xant/urac/vitC	p.G561W	ENST00000379333.1	37	c.1681	CCDS13085.1	20	.	.	.	.	.	.	.	.	.	.	C	26.7	4.765586	0.90020	.	.	ENSG00000089057	ENST00000379333;ENST00000338244;ENST00000424750	T;T;T	0.30448	1.54;1.54;1.53	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.61438	0.2347	M	0.85542	2.76	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	T	0.66846	-0.5820	10	0.87932	D	0	-11.8536	17.5691	0.87930	0.0:1.0:0.0:0.0	.	447;561	B4DJZ1;Q9UGH3	.;S23A2_HUMAN	W	561;561;447	ENSP00000368637:G561W;ENSP00000344322:G561W;ENSP00000406601:G447W	ENSP00000344322:G561W	G	-	1	0	SLC23A2	4787974	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	7.217000	0.77982	2.813000	0.96785	0.655000	0.94253	GGG	SLC23A2	-	NULL	ENSG00000089057		0.398	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC23A2	HGNC	protein_coding	OTTHUMT00000077832.1	82	0.00	0	C			4839974	4839974	-1	no_errors	ENST00000338244	ensembl	human	known	69_37n	missense	105	11.76	14	SNP	1.000	A
SLC23A2	9962	genome.wustl.edu	37	20	4848459	4848459	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:4848459G>C	ENST00000379333.1	-	13	1705	c.1313C>G	c.(1312-1314)tCt>tGt	p.S438C	SLC23A2_ENST00000338244.1_Missense_Mutation_p.S438C|SLC23A2_ENST00000468355.1_5'Flank|SNORA31_ENST00000516287.1_RNA|SLC23A2_ENST00000424750.2_Missense_Mutation_p.S324C	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	438					L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|molecular hydrogen transport (GO:0015993)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)|sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GGATGAAGTAGAGCCATTCCC	0.388																																						dbGAP											0													106.0	101.0	103.0					20																	4848459		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF058319	CCDS13085.1	20p13	2013-07-18	2013-07-18	2003-03-21	ENSG00000089057	ENSG00000089057		"""Solute carriers"""	10973	protein-coding gene	gene with protein product		603791	"""solute carrier family 23 (nucleobase transporters), member 1"""	SLC23A1		9804989, 10331392	Standard	NM_005116		Approved	SVCT2, KIAA0238, YSPL2	uc002wlh.1	Q9UGH3	OTTHUMG00000031793	ENST00000379333.1:c.1313C>G	20.37:g.4848459G>C	ENSP00000368637:p.Ser438Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	Missense_Mutation	SNP	pfam_Xant/urac/vitC	p.S438C	ENST00000379333.1	37	c.1313	CCDS13085.1	20	.	.	.	.	.	.	.	.	.	.	G	24.4	4.522665	0.85600	.	.	ENSG00000089057	ENST00000379333;ENST00000338244;ENST00000424750	T;T;T	0.17370	2.28;2.28;2.28	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.43033	0.1229	M	0.66506	2.035	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.997;0.995	T	0.22138	-1.0225	10	0.87932	D	0	-22.3481	18.3216	0.90241	0.0:0.0:1.0:0.0	.	324;438	B4DJZ1;Q9UGH3	.;S23A2_HUMAN	C	438;438;324	ENSP00000368637:S438C;ENSP00000344322:S438C;ENSP00000406601:S324C	ENSP00000344322:S438C	S	-	2	0	SLC23A2	4796459	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.330000	0.96422	2.754000	0.94517	0.585000	0.79938	TCT	SLC23A2	-	pfam_Xant/urac/vitC	ENSG00000089057		0.388	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC23A2	HGNC	protein_coding	OTTHUMT00000077832.1	98	0.00	0	G			4848459	4848459	-1	no_errors	ENST00000338244	ensembl	human	known	69_37n	missense	112	13.18	17	SNP	1.000	C
SLC23A2	9962	genome.wustl.edu	37	20	4913169	4913169	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:4913169C>T	ENST00000379333.1	-	3	432	c.40G>A	c.(40-42)Gag>Aag	p.E14K	SLC23A2_ENST00000338244.1_Missense_Mutation_p.E14K|SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000424750.2_Missense_Mutation_p.E14K	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	14					L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|molecular hydrogen transport (GO:0015993)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)|sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CTTCCAGCCTCCATTGATTTG	0.438																																						dbGAP											0													215.0	182.0	193.0					20																	4913169		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF058319	CCDS13085.1	20p13	2013-07-18	2013-07-18	2003-03-21	ENSG00000089057	ENSG00000089057		"""Solute carriers"""	10973	protein-coding gene	gene with protein product		603791	"""solute carrier family 23 (nucleobase transporters), member 1"""	SLC23A1		9804989, 10331392	Standard	NM_005116		Approved	SVCT2, KIAA0238, YSPL2	uc002wlh.1	Q9UGH3	OTTHUMG00000031793	ENST00000379333.1:c.40G>A	20.37:g.4913169C>T	ENSP00000368637:p.Glu14Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	Missense_Mutation	SNP	pfam_Xant/urac/vitC	p.E14K	ENST00000379333.1	37	c.40	CCDS13085.1	20	.	.	.	.	.	.	.	.	.	.	C	19.76	3.886612	0.72410	.	.	ENSG00000089057	ENST00000379333;ENST00000338244;ENST00000424750	T;T;T	0.53423	0.62;0.62;0.62	5.14	5.14	0.70334	.	0.119736	0.56097	D	0.000029	T	0.53351	0.1791	N	0.24115	0.695	0.27388	N	0.95522	P;P;P	0.52842	0.956;0.956;0.956	P;P;P	0.62184	0.899;0.899;0.899	T	0.52388	-0.8582	10	0.66056	D	0.02	-23.12	16.1366	0.81491	0.0:1.0:0.0:0.0	.	14;14;14	B4DJZ1;A0MSJ5;Q9UGH3	.;.;S23A2_HUMAN	K	14	ENSP00000368637:E14K;ENSP00000344322:E14K;ENSP00000406601:E14K	ENSP00000344322:E14K	E	-	1	0	SLC23A2	4861169	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.565000	0.60836	2.411000	0.81874	0.551000	0.68910	GAG	SLC23A2	-	NULL	ENSG00000089057		0.438	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC23A2	HGNC	protein_coding	OTTHUMT00000077832.1	155	0.00	0	C			4913169	4913169	-1	no_errors	ENST00000338244	ensembl	human	known	69_37n	missense	192	16.52	38	SNP	1.000	T
SLC24A1	9187	genome.wustl.edu	37	15	65943054	65943054	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:65943054G>C	ENST00000261892.6	+	7	2854	c.2567G>C	c.(2566-2568)gGa>gCa	p.G856A	SLC24A1_ENST00000546330.1_Missense_Mutation_p.G838A|SLC24A1_ENST00000537259.1_Missense_Mutation_p.G838A|SLC24A1_ENST00000544319.2_Missense_Mutation_p.G742A|SLC24A1_ENST00000449142.2_3'UTR|SLC24A1_ENST00000399033.4_Missense_Mutation_p.G856A|SLC24A1_ENST00000339868.6_Missense_Mutation_p.G838A	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	856					calcium ion transport (GO:0006816)|ion transport (GO:0006811)|phototransduction, visible light (GO:0007603)|response to light intensity (GO:0009642)|rhodopsin mediated signaling pathway (GO:0016056)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GGAAGTGATGGAGGGGATAGC	0.522																																						dbGAP											0													34.0	37.0	36.0					15																	65943054		2129	4246	6375	-	-	-	SO:0001583	missense	0			AF062922	CCDS45284.1, CCDS73742.1, CCDS73743.1, CCDS73744.1	15q22.31	2014-01-28			ENSG00000074621	ENSG00000074621		"""Solute carriers"""	10975	protein-coding gene	gene with protein product		603617				9856482	Standard	NM_004727		Approved	NCKX1, NCKX, RODX, KIAA0702, HsT17412, CSNB1D	uc010ujf.2	O60721	OTTHUMG00000167960	ENST00000261892.6:c.2567G>C	15.37:g.65943054G>C	ENSP00000261892:p.Gly856Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	O43485|O75184|Q17RM9	Missense_Mutation	SNP	pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger,tigrfam_K-dep_Na/Ca-exchanger-like	p.G856A	ENST00000261892.6	37	c.2567	CCDS45284.1	15	.	.	.	.	.	.	.	.	.	.	G	11.55	1.671391	0.29693	.	.	ENSG00000074621	ENST00000537259;ENST00000261892;ENST00000339868;ENST00000544319;ENST00000399033;ENST00000546330	T;T;T;T;T;T	0.66995	0.1;-0.13;2.04;2.04;-0.24;2.04	4.09	2.2	0.27929	.	1.922640	0.02706	N	0.112242	T	0.59742	0.2216	L	0.58101	1.795	0.21355	N	0.999716	B;P;B;B;P;P	0.39181	0.147;0.551;0.416;0.416;0.551;0.663	B;B;B;B;B;B	0.36092	0.025;0.135;0.103;0.064;0.209;0.217	T	0.41360	-0.9513	10	0.06891	T	0.86	.	7.9536	0.30029	0.2067:0.0:0.7933:0.0	.	183;838;856;856;838;838	B4DUG1;O60721-2;Q17RM9;O60721;F5H127;B4E1W0	.;.;.;NCKX1_HUMAN;.;.	A	838;856;838;742;856;838	ENSP00000439693:G838A;ENSP00000261892:G856A;ENSP00000341837:G838A;ENSP00000445163:G742A;ENSP00000381991:G856A;ENSP00000439190:G838A	ENSP00000261892:G856A	G	+	2	0	SLC24A1	63730108	0.471000	0.25862	0.269000	0.24586	0.416000	0.31233	0.809000	0.27168	0.385000	0.24970	0.289000	0.19496	GGA	SLC24A1	-	tigrfam_K-dep_Na/Ca-exchanger-like	ENSG00000074621		0.522	SLC24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC24A1	HGNC	protein_coding	OTTHUMT00000397304.1	65	0.00	0	G	NM_004727		65943054	65943054	+1	no_errors	ENST00000261892	ensembl	human	known	69_37n	missense	70	23.08	21	SNP	0.470	C
SLC24A4	123041	genome.wustl.edu	37	14	92949139	92949139	+	Missense_Mutation	SNP	C	C	A	rs145504963		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:92949139C>A	ENST00000532405.1	+	13	1597	c.1371C>A	c.(1369-1371)ttC>ttA	p.F457L	SLC24A4_ENST00000531433.1_Missense_Mutation_p.F438L|SLC24A4_ENST00000351924.5_Missense_Mutation_p.F421L|SLC24A4_ENST00000298877.1_Missense_Mutation_p.F440L|SLC24A4_ENST00000393265.2_Missense_Mutation_p.F393L			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	457					amelogenesis (GO:0097186)|cellular calcium ion homeostasis (GO:0006874)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|sensory perception of smell (GO:0007608)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		TGGTCACCTTCATCACCGCCA	0.597																																					NSCLC(10;315 435 10383 28450 38798)	dbGAP											0													105.0	84.0	91.0					14																	92949139		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF520704	CCDS9903.1, CCDS45155.1, CCDS45156.1, CCDS9903.2, CCDS45155.2	14q32.12	2013-05-22			ENSG00000140090	ENSG00000140090		"""Solute carriers"""	10978	protein-coding gene	gene with protein product		609840					Standard	NM_153646		Approved	NCKX4	uc001yak.3	Q8NFF2	OTTHUMG00000167589	ENST00000532405.1:c.1371C>A	14.37:g.92949139C>A	ENSP00000431840:p.Phe457Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1	Missense_Mutation	SNP	pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger-like	p.F457L	ENST00000532405.1	37	c.1371	CCDS9903.2	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.7|26.7	4.763992|4.763992	0.89932|0.89932	.|.	.|.	ENSG00000140090|ENSG00000140090	ENST00000393265;ENST00000531433;ENST00000532405;ENST00000298877;ENST00000351924;ENST00000318079|ENST00000525557	T;T;T;T;T|.	0.79454|.	0.43;-0.81;0.43;0.43;-1.27|.	5.74|5.74	3.9|3.9	0.45041|0.45041	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85128|0.85128	0.5626|0.5626	H|H	0.96398|0.96398	3.815|3.815	0.53688|0.53688	D|D	0.999974|0.999974	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;0.999;0.997|.	D|D	0.87917|0.87917	0.2701|0.2701	10|5	0.87932|.	D|.	0|.	.|.	10.1045|10.1045	0.42524|0.42524	0.0:0.793:0.0:0.207|0.0:0.793:0.0:0.207	.|.	438;393;457|.	Q8NFF2-3;Q8NFF2-2;Q8NFF2|.	.;.;NCKX4_HUMAN|.	L|N	393;438;457;440;421;309|323	ENSP00000376948:F393L;ENSP00000433302:F438L;ENSP00000431840:F457L;ENSP00000298877:F440L;ENSP00000337789:F421L|.	ENSP00000298877:F440L|.	F|H	+|+	3|1	2|0	SLC24A4|SLC24A4	92018892|92018892	0.809000|0.809000	0.29036|0.29036	0.890000|0.890000	0.34922|0.34922	0.991000|0.991000	0.79684|0.79684	1.591000|1.591000	0.36665|0.36665	1.434000|1.434000	0.47414|0.47414	0.561000|0.561000	0.74099|0.74099	TTC|CAT	SLC24A4	-	tigrfam_K-dep_Na/Ca-exchanger-like	ENSG00000140090		0.597	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	SLC24A4	HGNC	protein_coding	OTTHUMT00000395240.1	61	0.00	0	C	NM_153646		92949139	92949139	+1	no_errors	ENST00000532405	ensembl	human	known	69_37n	missense	52	17.46	11	SNP	0.991	A
SLC24A5	283652	genome.wustl.edu	37	15	48434501	48434501	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:48434501G>A	ENST00000341459.3	+	9	1529	c.1456G>A	c.(1456-1458)Gaa>Aaa	p.E486K	MYEF2_ENST00000267836.6_3'UTR|SLC24A5_ENST00000449382.2_Missense_Mutation_p.E426K|MYEF2_ENST00000324324.7_3'UTR	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	486					ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|negative regulation of melanin biosynthetic process (GO:0048022)|response to stimulus (GO:0050896)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		AGTTCTATATGAACTTGGAAT	0.368																																						dbGAP											0													54.0	57.0	56.0					15																	48434501		2198	4294	6492	-	-	-	SO:0001583	missense	0			AF348468	CCDS10128.1	15q21.1	2014-01-28	2013-07-18		ENSG00000188467	ENSG00000188467		"""Solute carriers"""	20611	protein-coding gene	gene with protein product	"""oculocutaneous albinism 6 (autosomal recessive)"""	609802	"""solute carrier family 24, member 5"""			23364476	Standard	XM_005254308		Approved	JSX, OCA6	uc001zwe.3	Q71RS6	OTTHUMG00000131494	ENST00000341459.3:c.1456G>A	15.37:g.48434501G>A	ENSP00000341550:p.Glu486Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A5X8Z8|A5X8Z9|Q14CT4|Q6DKH3	Missense_Mutation	SNP	pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger-like	p.E486K	ENST00000341459.3	37	c.1456	CCDS10128.1	15	.	.	.	.	.	.	.	.	.	.	G	24.6	4.554644	0.86231	.	.	ENSG00000188467	ENST00000341459;ENST00000449382	T;T	0.78595	-1.19;-1.19	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.90758	0.7099	M	0.89601	3.045	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.80764	0.985;0.994	D	0.91846	0.5487	10	0.87932	D	0	.	20.0044	0.97430	0.0:0.0:1.0:0.0	.	426;486	A5X8Z9;Q71RS6	.;NCKX5_HUMAN	K	486;426	ENSP00000341550:E486K;ENSP00000389966:E426K	ENSP00000341550:E486K	E	+	1	0	SLC24A5	46221793	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.283000	0.95860	2.804000	0.96469	0.650000	0.86243	GAA	SLC24A5	-	NULL	ENSG00000188467		0.368	SLC24A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC24A5	HGNC	protein_coding	OTTHUMT00000254340.2	69	0.00	0	G	NM_205850		48434501	48434501	+1	no_errors	ENST00000341459	ensembl	human	known	69_37n	missense	46	25.81	16	SNP	1.000	A
SLC25A20	788	genome.wustl.edu	37	3	48936159	48936159	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:48936159G>T	ENST00000319017.4	-	1	267	c.69C>A	c.(67-69)tgC>tgA	p.C23*	SLC25A20_ENST00000430379.1_Nonsense_Mutation_p.C23*|SLC25A20_ENST00000544097.1_5'UTR	NM_000387.5	NP_000378.1	O43772	MCAT_HUMAN	solute carrier family 25 (carnitine/acylcarnitine translocase), member 20	23					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000168)|Kidney(197;0.00231)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	L-Carnitine(DB00583)	CGAACACCAGGCACACGCCGC	0.667																																						dbGAP											0													26.0	27.0	27.0					3																	48936159		2201	4295	6496	-	-	-	SO:0001587	stop_gained	0			Y10319	CCDS2779.1	3p21.31	2013-05-22			ENSG00000178537	ENSG00000178537		"""Solute carriers"""	1421	protein-coding gene	gene with protein product	"""carnitine-acylcarnitine carrier"", ""carnitine/acylcarnitine translocase"""	613698		CACT		9399886, 9533014	Standard	NM_000387		Approved	CAC	uc003cva.4	O43772	OTTHUMG00000133538	ENST00000319017.4:c.69C>A	3.37:g.48936159G>T	ENSP00000326305:p.Cys23*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7F4|Q9UIQ2	Nonsense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.C23*	ENST00000319017.4	37	c.69	CCDS2779.1	3	.	.	.	.	.	.	.	.	.	.	G	37	6.365542	0.97507	.	.	ENSG00000178537	ENST00000430379;ENST00000319017	.	.	.	4.96	4.09	0.47781	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	-1.0983	12.1195	0.53883	0.0838:0.0:0.9162:0.0	.	.	.	.	X	23	.	ENSP00000326305:C23X	C	-	3	2	SLC25A20	48911163	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.771000	0.55318	1.326000	0.45319	-0.136000	0.14681	TGC	SLC25A20	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000178537		0.667	SLC25A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A20	HGNC	protein_coding	OTTHUMT00000257516.2	22	0.00	0	G	NM_000387		48936159	48936159	-1	no_errors	ENST00000319017	ensembl	human	known	69_37n	nonsense	19	20.83	5	SNP	1.000	T
SLC25A3	5250	genome.wustl.edu	37	12	98995192	98995192	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:98995192G>A	ENST00000228318.3	+	8	1095	c.975G>A	c.(973-975)ctG>ctA	p.L325L	SLC25A3_ENST00000401722.3_Silent_p.L324L|SLC25A3_ENST00000548847.1_Silent_p.L287L|SLC25A3_ENST00000551917.1_Silent_p.L325L|SNORA53_ENST00000391141.1_RNA|SLC25A3_ENST00000188376.5_Silent_p.L324L|SLC25A3_ENST00000549338.1_Silent_p.L324L|SLC25A3_ENST00000552981.1_Silent_p.L324L	NM_005888.3	NP_005879.1	Q00325	MPCP_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3	325					generation of precursor metabolites and energy (GO:0006091)|phosphate ion transmembrane transport (GO:0035435)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	phosphate ion carrier activity (GO:0015320)|protein complex binding (GO:0032403)|symporter activity (GO:0015293)			breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		TTGGTACCCTGACTGCACTAC	0.458																																						dbGAP											0													167.0	161.0	163.0					12																	98995192		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS9065.1, CCDS9066.1	12q23.1	2013-05-22			ENSG00000075415	ENSG00000075415		"""Solute carriers"""	10989	protein-coding gene	gene with protein product		600370		PHC		8168843	Standard	NM_213611		Approved		uc001tfo.3	Q00325	OTTHUMG00000170212	ENST00000228318.3:c.975G>A	12.37:g.98995192G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KS34|Q7Z7N7|Q96A03	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.L325	ENST00000228318.3	37	c.975	CCDS9066.1	12																																																																																			SLC25A3	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000075415		0.458	SLC25A3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC25A3	HGNC	protein_coding	OTTHUMT00000407989.1	113	0.00	0	G	NM_005888		98995192	98995192	+1	no_errors	ENST00000228318	ensembl	human	known	69_37n	silent	64	55.24	79	SNP	1.000	A
SLC25A33	84275	genome.wustl.edu	37	1	9613784	9613784	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:9613784C>T	ENST00000302692.6	+	2	367	c.157C>T	c.(157-159)Cag>Tag	p.Q53*		NM_032315.2	NP_115691.1	Q9BSK2	S2533_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier), member 33	53					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.Q53E(1)		endometrium(2)|kidney(1)|lung(4)|prostate(1)|skin(1)	9	all_lung(157;0.246)	all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419)		CTACTATCCTCAGGTTCATCT	0.478																																						dbGAP											1	Substitution - Missense(1)	lung(1)											98.0	93.0	94.0					1																	9613784		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF495714	CCDS103.1	1p36.22	2013-05-22	2012-03-29		ENSG00000171612	ENSG00000171612		"""Solute carriers"""	29681	protein-coding gene	gene with protein product		610816	"""solute carrier family 25, member 33"""			14715278, 16949250	Standard	XM_005263503		Approved	MGC4399, BMSC-MCP, PNC1	uc001apw.3	Q9BSK2	OTTHUMG00000001322	ENST00000302692.6:c.157C>T	1.37:g.9613784C>T	ENSP00000306328:p.Gln53*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.Q53*	ENST00000302692.6	37	c.157	CCDS103.1	1	.	.	.	.	.	.	.	.	.	.	C	38	6.834442	0.97873	.	.	ENSG00000171612	ENST00000302692	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	-19.9563	14.7382	0.69434	0.0:0.8558:0.1442:0.0	.	.	.	.	X	53	.	ENSP00000306328:Q53X	Q	+	1	0	SLC25A33	9536371	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.593000	0.67550	2.771000	0.95319	0.644000	0.83932	CAG	SLC25A33	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000171612		0.478	SLC25A33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A33	HGNC	protein_coding	OTTHUMT00000003851.2	112	0.00	0	C	NM_032315		9613784	9613784	+1	no_errors	ENST00000302692	ensembl	human	known	69_37n	nonsense	68	26.88	25	SNP	1.000	T
SLC25A4	291	genome.wustl.edu	37	4	186065972	186065972	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:186065972G>C	ENST00000281456.6	+	2	298	c.166G>C	c.(166-168)Gat>Cat	p.D56H		NM_001151.3	NP_001142.2	P12235	ADT1_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4	56					adenine transport (GO:0015853)|apoptotic mitochondrial changes (GO:0008637)|energy reserve metabolic process (GO:0006112)|generation of precursor metabolites and energy (GO:0006091)|mitochondrial genome maintenance (GO:0000002)|negative regulation of necroptotic process (GO:0060546)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	adenine transmembrane transporter activity (GO:0015207)			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;4.48e-44)|Epithelial(43;2.1e-41)|all cancers(43;1.37e-36)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	Adenosine triphosphate(DB00171)|Clodronate(DB00720)	AGGGATCATTGATTGTGTGGT	0.552																																						dbGAP											0													115.0	110.0	112.0					4																	186065972		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC008664	CCDS34114.1	4q35	2014-09-17			ENSG00000151729	ENSG00000151729		"""Solute carriers"""	10990	protein-coding gene	gene with protein product		103220		PEO3, PEO2, ANT1		1582253	Standard	NM_001151		Approved	T1	uc003ixd.3	P12235	OTTHUMG00000134299	ENST00000281456.6:c.166G>C	4.37:g.186065972G>C	ENSP00000281456:p.Asp56His	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DP59	Missense_Mutation	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.D56H	ENST00000281456.6	37	c.166	CCDS34114.1	4	.	.	.	.	.	.	.	.	.	.	G	26.7	4.763133	0.89932	.	.	ENSG00000151729	ENST00000281456	T	0.80123	-1.34	5.5	5.5	0.81552	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.91456	0.7303	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.92138	0.5718	10	0.87932	D	0	-8.0506	19.5916	0.95514	0.0:0.0:1.0:0.0	.	56	P12235	ADT1_HUMAN	H	56	ENSP00000281456:D56H	ENSP00000281456:D56H	D	+	1	0	SLC25A4	186302966	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.657000	0.98554	2.861000	0.98227	0.655000	0.94253	GAT	SLC25A4	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Aden_trnslctor,prints_Mit_uncoupling	ENSG00000151729		0.552	SLC25A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A4	HGNC	protein_coding	OTTHUMT00000259170.3	56	0.00	0	G	NM_001151		186065972	186065972	+1	no_errors	ENST00000281456	ensembl	human	known	69_37n	missense	39	20.41	10	SNP	1.000	C
SLC25A48	153328	genome.wustl.edu	37	5	135207453	135207453	+	Intron	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:135207453C>T	ENST00000420621.1	+	5	851				SLC25A48_ENST00000425402.1_Intron|SLC25A48_ENST00000412661.2_Intron|SLC25A48_ENST00000274513.5_Missense_Mutation_p.A242V|SLC25A48_ENST00000433282.2_Intron			Q6ZT89	S2548_HUMAN	solute carrier family 25, member 48						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						CAGGCCACAGCAGTGGGACAG	0.637																																						dbGAP											0													23.0	25.0	24.0					5																	135207453		1972	4160	6132	-	-	-	SO:0001627	intron_variant	0				CCDS43366.2	5q31.1	2013-05-22			ENSG00000145832	ENSG00000145832		"""Solute carriers"""	30451	protein-coding gene	gene with protein product	"""HCC-down-regulated mitochondrial carrier protein"""					15322095, 19303656	Standard	NM_145282		Approved	FLJ44862, HDMCP	uc003lba.3	Q6ZT89	OTTHUMG00000157007	ENST00000420621.1:c.679+46C>T	5.37:g.135207453C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TAV9	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.A242V	ENST00000420621.1	37	c.725		5	.	.	.	.	.	.	.	.	.	.	C	14.50	2.554640	0.45487	.	.	ENSG00000145832	ENST00000274513	D	0.81821	-1.54	5.01	-1.3	0.09259	.	1.464050	0.03852	N	0.272374	T	0.66025	0.2748	.	.	.	0.09310	N	0.999995	B	0.25272	0.122	B	0.26969	0.075	T	0.51834	-0.8655	9	0.42905	T	0.14	.	0.1341	0.00077	0.2618:0.1989:0.1859:0.3534	.	242	Q6ZT89-2	.	V	242	ENSP00000274513:A242V	ENSP00000274513:A242V	A	+	2	0	SLC25A48	135235352	0.000000	0.05858	0.011000	0.14972	0.070000	0.16714	-0.543000	0.06084	0.087000	0.17167	0.462000	0.41574	GCA	SLC25A48	-	NULL	ENSG00000145832		0.637	SLC25A48-201	KNOWN	basic|appris_principal	protein_coding	SLC25A48	HGNC	protein_coding		39	0.00	0	C	NM_145282		135207453	135207453	+1	no_errors	ENST00000274513	ensembl	human	known	69_37n	missense	35	18.60	8	SNP	0.002	T
SLC26A4	5172	genome.wustl.edu	37	7	107312589	107312589	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:107312589C>T	ENST00000265715.3	+	4	535	c.311C>T	c.(310-312)gCa>gTa	p.A104V		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	104			A -> V (in Pendred syndrome/deafness individuals). {ECO:0000269|PubMed:14679580}.		chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TCAGGGATGGCATATGCCCTA	0.408									Pendred syndrome																													dbGAP											0			GRCh37	CM040113	SLC26A4	M							248.0	198.0	215.0					7																	107312589		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Goiter-Deafness syndrome	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.311C>T	7.37:g.107312589C>T	ENSP00000265715:p.Ala104Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z266|O43170	Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.A104V	ENST00000265715.3	37	c.311	CCDS5746.1	7	.	.	.	.	.	.	.	.	.	.	C	26.5	4.741288	0.89573	.	.	ENSG00000091137	ENST00000265715;ENST00000440056	T;T	0.79653	-1.29;-1.29	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.94621	0.8266	H	0.99104	4.43	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97000	0.9728	10	0.87932	D	0	.	18.9309	0.92564	0.0:1.0:0.0:0.0	.	104	O43511	S26A4_HUMAN	V	104	ENSP00000265715:A104V;ENSP00000394760:A104V	ENSP00000265715:A104V	A	+	2	0	SLC26A4	107099825	1.000000	0.71417	0.997000	0.53966	0.667000	0.39255	7.323000	0.79105	2.536000	0.85505	0.561000	0.74099	GCA	SLC26A4	-	tigrfam_SulP_transpt	ENSG00000091137		0.408	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A4	HGNC	protein_coding	OTTHUMT00000337148.1	131	0.00	0	C	NM_000441		107312589	107312589	+1	no_errors	ENST00000265715	ensembl	human	known	69_37n	missense	125	25.60	43	SNP	1.000	T
SLC26A5	375611	genome.wustl.edu	37	7	103018192	103018192	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:103018192C>G	ENST00000306312.3	-	18	2101	c.1840G>C	c.(1840-1842)Gta>Cta	p.V614L	SLC26A5_ENST00000432958.2_Missense_Mutation_p.V582L|SLC26A5_ENST00000339444.6_Missense_Mutation_p.V614L|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000393727.1_Missense_Mutation_p.V616L|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000354356.4_Missense_Mutation_p.V47L|SLC26A5_ENST00000393723.1_Missense_Mutation_p.V584L|SLC26A5_ENST00000393730.1_Missense_Mutation_p.V582L|SLC26A5_ENST00000393729.1_Missense_Mutation_p.V577L	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	614	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				regulation of cell shape (GO:0008360)|regulation of membrane potential (GO:0042391)|sensory perception of sound (GO:0007605)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)	secondary active sulfate transmembrane transporter activity (GO:0008271)			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						GGATATTTTACTTCACCATCC	0.408																																						dbGAP											0													120.0	116.0	117.0					7																	103018192		2203	4300	6503	-	-	-	SO:0001583	missense	0			AC005064	CCDS5733.1, CCDS43630.1, CCDS55150.1, CCDS5732.1, CCDS43629.1	7q22	2013-07-18	2013-07-18	2005-09-13	ENSG00000170615	ENSG00000170615		"""Solute carriers"""	9359	protein-coding gene	gene with protein product	"""deafness, neurosensory, autosomal recessive, 61"""	604943	"""prestin (motor protein)"""	PRES		10821263	Standard	NM_206883		Approved	DFNB61	uc003vbz.3	P58743	OTTHUMG00000149911	ENST00000306312.3:c.1840G>C	7.37:g.103018192C>G	ENSP00000304783:p.Val614Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q496J2|Q7Z7F3|Q86UF8|Q86UF9|Q86UG0	Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.V614L	ENST00000306312.3	37	c.1840	CCDS5733.1	7	.	.	.	.	.	.	.	.	.	.	C	5.245	0.230644	0.09969	.	.	ENSG00000170615	ENST00000339444;ENST00000306312;ENST00000393730;ENST00000432958;ENST00000354356;ENST00000393729;ENST00000393727;ENST00000393723	D;D;D;D;D;D;D;D	0.95482	-3.08;-3.13;-3.1;-3.1;-3.72;-3.05;-3.11;-3.08	5.31	-0.928	0.10448	Sulphate transporter/antisigma-factor antagonist STAS (3);	1.315290	0.04590	N	0.396524	D	0.89396	0.6703	N	0.14661	0.345	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.10450	0.005;0.004;0.002	T	0.77720	-0.2482	10	0.15952	T	0.53	.	10.4604	0.44577	0.0:0.5766:0.0:0.4234	.	614;582;614	P58743;Q496J2;P58743-2	S26A5_HUMAN;.;.	L	614;614;582;582;47;577;616;584	ENSP00000342396:V614L;ENSP00000304783:V614L;ENSP00000377331:V582L;ENSP00000389733:V582L;ENSP00000346325:V47L;ENSP00000377330:V577L;ENSP00000377328:V616L;ENSP00000377324:V584L	ENSP00000304783:V614L	V	-	1	0	SLC26A5	102805428	0.895000	0.30542	0.266000	0.24541	0.915000	0.54546	0.060000	0.14342	-0.424000	0.07382	-0.809000	0.03173	GTA	SLC26A5	-	pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	ENSG00000170615		0.408	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A5	HGNC	protein_coding	OTTHUMT00000313860.1	95	0.00	0	C	NM_198999		103018192	103018192	-1	no_errors	ENST00000306312	ensembl	human	known	69_37n	missense	51	22.73	15	SNP	0.050	G
SLC26A4	5172	genome.wustl.edu	37	7	107329622	107329622	+	Missense_Mutation	SNP	G	G	A	rs577393874		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:107329622G>A	ENST00000265715.3	+	9	1350	c.1126G>A	c.(1126-1128)Gat>Aat	p.D376N	SLC26A4_ENST00000541474.1_5'Flank|SLC26A4_ENST00000544569.1_5'Flank	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	376					chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CACCAAGTATGATTACACCAT	0.438									Pendred syndrome																													dbGAP											0													168.0	155.0	160.0					7																	107329622		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Goiter-Deafness syndrome	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.1126G>A	7.37:g.107329622G>A	ENSP00000265715:p.Asp376Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z266|O43170	Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.D376N	ENST00000265715.3	37	c.1126	CCDS5746.1	7	.	.	.	.	.	.	.	.	.	.	G	14.84	2.654973	0.47467	.	.	ENSG00000091137	ENST00000265715	D	0.93189	-3.18	5.62	5.62	0.85841	Sulphate transporter (1);	0.058825	0.64402	D	0.000004	D	0.83760	0.5324	N	0.02142	-0.665	0.80722	D	1	B	0.31581	0.329	B	0.37304	0.246	T	0.82839	-0.0259	10	0.28530	T	0.3	.	12.9282	0.58272	0.0738:0.0:0.9262:0.0	.	376	O43511	S26A4_HUMAN	N	376	ENSP00000265715:D376N	ENSP00000265715:D376N	D	+	1	0	SLC26A4	107116858	1.000000	0.71417	0.992000	0.48379	0.908000	0.53690	6.050000	0.71063	2.648000	0.89879	0.561000	0.74099	GAT	SLC26A4	-	pfam_Sulph_transpt,tigrfam_SulP_transpt	ENSG00000091137		0.438	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A4	HGNC	protein_coding	OTTHUMT00000337148.1	121	0.00	0	G	NM_000441		107329622	107329622	+1	no_errors	ENST00000265715	ensembl	human	known	69_37n	missense	122	14.69	21	SNP	1.000	A
SLC27A5	10998	genome.wustl.edu	37	19	59010588	59010588	+	Splice_Site	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:59010588C>G	ENST00000263093.2	-	8	1777		c.e8-1		SLC27A5_ENST00000599700.1_5'UTR|SLC27A5_ENST00000594786.1_5'UTR|SLC27A5_ENST00000601355.1_Splice_Site	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5						bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|ketone body biosynthetic process (GO:0046951)|plasma membrane long-chain fatty acid transport (GO:0015911)|small molecule metabolic process (GO:0044281)|triglyceride mobilization (GO:0006642)|very long-chain fatty acid metabolic process (GO:0000038)	basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|protein complex (GO:0043234)	ATP binding (GO:0005524)|cholate-CoA ligase activity (GO:0047747)|fatty acid transporter activity (GO:0015245)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		GCCCTTCCATCTGCAAGGAGG	0.657																																						dbGAP											0													58.0	51.0	53.0					19																	59010588		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF064255	CCDS12983.1	19q13.43	2013-07-15			ENSG00000083807	ENSG00000083807		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10999	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 3"""	603314				10479480, 10749848	Standard	NM_012254		Approved	FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, FLJ22987, ACSVL6, ACSB	uc002qtc.2	Q9Y2P5	OTTHUMG00000183543	ENST00000263093.2:c.1668-1G>C	19.37:g.59010588C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVP6|B4DPQ1	Splice_Site	SNP	-	e8-1	ENST00000263093.2	37	c.1668-1	CCDS12983.1	19	.	.	.	.	.	.	.	.	.	.	C	36	5.612960	0.96637	.	.	ENSG00000083807	ENST00000263093	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3774	0.66886	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC27A5	63702400	1.000000	0.71417	0.566000	0.28421	0.807000	0.45602	5.159000	0.64923	2.538000	0.85594	0.563000	0.77884	.	SLC27A5	-	-	ENSG00000083807		0.657	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A5	HGNC	protein_coding	OTTHUMT00000467060.1	14	0.00	0	C	NM_012254	Intron	59010588	59010588	-1	no_errors	ENST00000263093	ensembl	human	known	69_37n	splice_site	14	39.13	9	SNP	0.997	G
SLC29A1	2030	genome.wustl.edu	37	6	44200651	44200651	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:44200651C>G	ENST00000393841.1	+	13	1658	c.1167C>G	c.(1165-1167)gtC>gtG	p.V389V	SLC29A1_ENST00000371713.1_Silent_p.V389V|SLC29A1_ENST00000371708.1_Silent_p.V389V|SLC29A1_ENST00000393844.1_Silent_p.V389V|SLC29A1_ENST00000371731.1_Silent_p.V389V|SLC29A1_ENST00000371724.1_Silent_p.V389V|SLC29A1_ENST00000371740.5_Silent_p.V389V|SLC29A1_ENST00000313248.7_Silent_p.V468V|SLC29A1_ENST00000371755.3_Silent_p.V389V|SLC29A1_ENST00000427851.2_Silent_p.V389V	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	389					cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|lactation (GO:0007595)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sleep (GO:0030431)|transmembrane transport (GO:0055085)|uridine transport (GO:0015862)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Cytarabine(DB00987)|Didanosine(DB00900)|Fludarabine(DB01073)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Pemetrexed(DB00642)|Ribavirin(DB00811)|Zalcitabine(DB00943)	TGACTGTGGTCTTCGAGCACG	0.607																																						dbGAP											0													109.0	79.0	89.0					6																	44200651		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U81375	CCDS4908.1	6p21.1	2013-07-17	2013-07-17		ENSG00000112759	ENSG00000112759		"""Solute carriers"""	11003	protein-coding gene	gene with protein product		602193	"""solute carrier family 29 (nucleoside transporters), member 1"""	ENT1		8986748, 9344680	Standard	NM_004955		Approved		uc003owy.2	Q99808	OTTHUMG00000014759	ENST00000393841.1:c.1167C>G	6.37:g.44200651C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQV7|B3KQY5|Q5T9W9|Q9UJY2	Silent	SNP	pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt,tigrfam_Eqnu_transpt	p.V468	ENST00000393841.1	37	c.1404	CCDS4908.1	6																																																																																			SLC29A1	-	pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,tigrfam_Eqnu_transpt	ENSG00000112759		0.607	SLC29A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC29A1	HGNC	protein_coding	OTTHUMT00000040721.1	64	0.00	0	C			44200651	44200651	+1	no_errors	ENST00000313248	ensembl	human	known	69_37n	silent	65	19.75	16	SNP	0.868	G
SLC29A2	3177	genome.wustl.edu	37	11	66136072	66136072	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:66136072G>C	ENST00000357440.2	-	5	714	c.486C>G	c.(484-486)ctC>ctG	p.L162L	SLC29A2_ENST00000546034.1_Silent_p.L162L|SLC29A2_ENST00000544554.1_Silent_p.L162L|SLC29A2_ENST00000311161.7_Silent_p.L162L	NM_001532.2	NP_001523.2	Q14542	S29A2_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 2	162					cell proliferation (GO:0008283)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10					Didanosine(DB00900)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Zalcitabine(DB00943)|Zidovudine(DB00495)	CGCTGAGGAAGAGGGTGCTGT	0.657																																						dbGAP											0													51.0	33.0	39.0					11																	66136072		2198	4293	6491	-	-	-	SO:0001819	synonymous_variant	0			X86681	CCDS8137.1, CCDS73326.1	11q13	2013-07-17	2013-07-17		ENSG00000174669	ENSG00000174669		"""Solute carriers"""	11004	protein-coding gene	gene with protein product		602110	"""solute carrier family 29 (nucleoside transporters), member 2"""	ENT2, HNP36		9192854, 9478986	Standard	NM_001532		Approved	DER12	uc001oht.3	Q14542	OTTHUMG00000169056	ENST00000357440.2:c.486C>G	11.37:g.66136072G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KPY7|O43530|Q52M84|Q96R00|Q9UPE0	Missense_Mutation	SNP	NULL	p.L140V	ENST00000357440.2	37	c.418	CCDS8137.1	11																																																																																			SLC29A2	-	NULL	ENSG00000174669		0.657	SLC29A2-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC29A2	HGNC	protein_coding	OTTHUMT00000402093.1	13	0.00	0	G	NM_001532		66136072	66136072	-1	no_errors	ENST00000541567	ensembl	human	known	69_37n	missense	36	23.40	11	SNP	0.997	C
SLC29A3	55315	genome.wustl.edu	37	10	73115968	73115968	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:73115968C>T	ENST00000373189.5	+	5	793	c.741C>T	c.(739-741)ctC>ctT	p.L247L	SLC29A3_ENST00000469204.1_3'UTR	NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	247					transmembrane transport (GO:0055085)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						GCATGGGACTCTACCTGCTGC	0.557																																					Esophageal Squamous(200;1319 2142 18949 31248 39672)	dbGAP											0													135.0	96.0	109.0					10																	73115968		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF326987	CCDS7310.1	10q22.2	2013-07-17	2013-07-17		ENSG00000198246	ENSG00000198246		"""Solute carriers"""	23096	protein-coding gene	gene with protein product		612373	"""solute carrier family 29 (nucleoside transporters), member 3"""			11396612	Standard	NM_018344		Approved	ENT3, FLJ11160	uc001jrr.4	Q9BZD2	OTTHUMG00000018424	ENST00000373189.5:c.741C>T	10.37:g.73115968C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RB50|B4E2Z9|B7ZA37|Q0VAM9|Q5T465|Q7RTT8|Q8IVZ0|Q9BWI2|Q9NUS9	Silent	SNP	pfam_Eqnu_transpt,prints_Eqnu_transpt	p.L247	ENST00000373189.5	37	c.741	CCDS7310.1	10																																																																																			SLC29A3	-	pfam_Eqnu_transpt,prints_Eqnu_transpt	ENSG00000198246		0.557	SLC29A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC29A3	HGNC	protein_coding	OTTHUMT00000048544.1	72	0.00	0	C	NM_018344		73115968	73115968	+1	no_errors	ENST00000373189	ensembl	human	known	69_37n	silent	44	22.81	13	SNP	0.924	T
SLC2A12	154091	genome.wustl.edu	37	6	134350155	134350155	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:134350155G>A	ENST00000275230.5	-	2	963	c.808C>T	c.(808-810)Cgt>Tgt	p.R270C		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	270					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		TCTTTTGAACGAAACAGATCC	0.388																																					Melanoma(122;1663 1672 14489 35294 41228)	dbGAP											0													89.0	85.0	86.0					6																	134350155		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL035699	CCDS5169.1	6q23.2	2013-05-22			ENSG00000146411	ENSG00000146411		"""Solute carriers"""	18067	protein-coding gene	gene with protein product		610372				11780753, 11832379	Standard	XM_006715349		Approved	GLUT12, GLUT8	uc003qem.1	Q8TD20	OTTHUMG00000015611	ENST00000275230.5:c.808C>T	6.37:g.134350155G>A	ENSP00000275230:p.Arg270Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KV17|Q7Z6U3|Q96MR8	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt	p.R270C	ENST00000275230.5	37	c.808	CCDS5169.1	6	.	.	.	.	.	.	.	.	.	.	G	13.07	2.128481	0.37533	.	.	ENSG00000146411	ENST00000275230	T	0.74002	-0.8	5.4	4.5	0.54988	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	.	.	.	.	T	0.48857	0.1523	L	0.47190	1.495	0.54753	D	0.999989	P	0.41366	0.747	B	0.31290	0.127	T	0.57974	-0.7718	9	0.45353	T	0.12	-12.1303	9.0494	0.36367	0.0741:0.0:0.7785:0.1474	.	270	Q8TD20	GTR12_HUMAN	C	270	ENSP00000275230:R270C	ENSP00000275230:R270C	R	-	1	0	SLC2A12	134391848	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.749000	0.47492	2.542000	0.85734	0.467000	0.42956	CGT	SLC2A12	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000146411		0.388	SLC2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A12	HGNC	protein_coding	OTTHUMT00000042302.1	71	0.00	0	G			134350155	134350155	-1	no_errors	ENST00000275230	ensembl	human	known	69_37n	missense	54	29.87	23	SNP	1.000	A
SLC2A9	56606	genome.wustl.edu	37	4	9987380	9987380	+	Missense_Mutation	SNP	A	A	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:9987380A>T	ENST00000264784.3	-	4	501	c.448T>A	c.(448-450)Tct>Act	p.S150T	SLC2A9_ENST00000506583.1_Missense_Mutation_p.S121T|SLC2A9_ENST00000309065.3_Missense_Mutation_p.S121T	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	150					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)|sugar:proton symporter activity (GO:0005351)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35					Losartan(DB00678)|Probenecid(DB01032)	AATGCAGCAGAAATTGCAAAC	0.488																																						dbGAP											0													96.0	94.0	94.0					4																	9987380		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF210317	CCDS3406.1, CCDS3407.1	4p16.1	2013-05-22			ENSG00000109667	ENSG00000109667		"""Solute carriers"""	13446	protein-coding gene	gene with protein product	"""urate voltage-driven efflux transporter 1"""	606142				10860667, 17710649	Standard	NM_020041		Approved	Glut9, GLUTX, URATv1	uc003gmc.3	Q9NRM0	OTTHUMG00000044263	ENST00000264784.3:c.448T>A	4.37:g.9987380A>T	ENSP00000264784:p.Ser150Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt	p.S150T	ENST00000264784.3	37	c.448	CCDS3407.1	4	.	.	.	.	.	.	.	.	.	.	A	10.51	1.370733	0.24771	.	.	ENSG00000109667	ENST00000506583;ENST00000264784;ENST00000309065;ENST00000513129	T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75	5.32	-4.62	0.03370	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.896444	0.09558	N	0.785954	T	0.43077	0.1231	N	0.04880	-0.145	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.11329	0.004;0.006	T	0.24584	-1.0156	9	.	.	.	.	2.6268	0.04932	0.2057:0.391:0.0754:0.3279	.	121;150	Q9NRM0-2;Q9NRM0	.;GTR9_HUMAN	T	121;150;121;121	ENSP00000422209:S121T;ENSP00000264784:S150T;ENSP00000311383:S121T;ENSP00000426800:S121T	.	S	-	1	0	SLC2A9	9596478	0.000000	0.05858	0.000000	0.03702	0.823000	0.46562	-0.158000	0.10070	-1.076000	0.03125	0.477000	0.44152	TCT	SLC2A9	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt	ENSG00000109667		0.488	SLC2A9-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC2A9	HGNC	protein_coding	OTTHUMT00000207055.1	43	0.00	0	A			9987380	9987380	-1	no_errors	ENST00000264784	ensembl	human	known	69_37n	missense	45	23.73	14	SNP	0.000	T
SLC30A10	55532	genome.wustl.edu	37	1	220088925	220088925	+	Missense_Mutation	SNP	T	T	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:220088925T>G	ENST00000366926.3	-	4	1485	c.1324A>C	c.(1324-1326)Agt>Cgt	p.S442R	SLC30A10_ENST00000484079.1_5'UTR|SLC30A10_ENST00000536446.1_Missense_Mutation_p.S197R	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	442					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		AGGCCATCACTTCCGTATGTG	0.527																																					Colon(76;360 1614 43677 51136)	dbGAP											0													124.0	120.0	122.0					1																	220088925		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY212919	CCDS31026.1	1q41	2013-05-22			ENSG00000196660	ENSG00000196660		"""Solute carriers"""	25355	protein-coding gene	gene with protein product	"""zinc transporter 8"""	611146				15154973	Standard	NR_046437		Approved	DKFZp547M236, ZnT-10, ZRC1, ZNT8	uc001hlw.3	Q6XR72	OTTHUMG00000037434	ENST00000366926.3:c.1324A>C	1.37:g.220088925T>G	ENSP00000355893:p.Ser442Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q49AL9|Q9NPW0	Missense_Mutation	SNP	pfam_Cation_efflux,tigrfam_Cation_efflux	p.S442R	ENST00000366926.3	37	c.1324	CCDS31026.1	1	.	.	.	.	.	.	.	.	.	.	T	13.84	2.357465	0.41801	.	.	ENSG00000196660	ENST00000366926;ENST00000536446	T;T	0.67698	-0.28;0.31	6.02	2.18	0.27775	.	0.592390	0.16993	N	0.191232	T	0.43853	0.1266	N	0.14661	0.345	0.09310	N	1	B	0.34015	0.435	B	0.30782	0.12	T	0.18713	-1.0328	9	.	.	.	-0.0022	9.1727	0.37093	0.0:0.3976:0.0:0.6024	.	442	Q6XR72	ZNT10_HUMAN	R	442;197	ENSP00000355893:S442R;ENSP00000439489:S197R	.	S	-	1	0	SLC30A10	218155548	0.000000	0.05858	0.000000	0.03702	0.077000	0.17291	0.795000	0.26972	0.103000	0.17682	0.528000	0.53228	AGT	SLC30A10	-	NULL	ENSG00000196660		0.527	SLC30A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A10	HGNC	protein_coding	OTTHUMT00000357709.1	92	0.00	0	T	NM_018713		220088925	220088925	-1	no_errors	ENST00000366926	ensembl	human	known	69_37n	missense	123	11.51	16	SNP	0.000	G
SLC30A3	7781	genome.wustl.edu	37	2	27479271	27479271	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:27479271G>A	ENST00000233535.4	-	7	1353	c.1001C>T	c.(1000-1002)tCt>tTt	p.S334F	SLC30A3_ENST00000447008.2_Missense_Mutation_p.S329F	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	334					positive regulation of transport (GO:0051050)|regulation of sequestering of zinc ion (GO:0061088)|transmembrane transport (GO:0055085)|transport (GO:0006810)|zinc ion transmembrane transport (GO:0071577)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	zinc transporting ATPase activity (GO:0015633)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGGTGTGCAGAGGCAACATG	0.572																																						dbGAP											0													69.0	63.0	65.0					2																	27479271		2203	4300	6503	-	-	-	SO:0001583	missense	0			U76010	CCDS1743.1	2p23.3	2013-05-22			ENSG00000115194	ENSG00000115194		"""Solute carriers"""	11014	protein-coding gene	gene with protein product		602878		ZNT3		8962159	Standard	NM_003459		Approved		uc002rjj.3	Q99726	OTTHUMG00000128409	ENST00000233535.4:c.1001C>T	2.37:g.27479271G>A	ENSP00000233535:p.Ser334Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TC03	Missense_Mutation	SNP	pfam_Cation_efflux,tigrfam_Cation_efflux	p.S334F	ENST00000233535.4	37	c.1001	CCDS1743.1	2	.	.	.	.	.	.	.	.	.	.	G	22.3	4.269842	0.80469	.	.	ENSG00000115194	ENST00000233535;ENST00000447008;ENST00000445870	T;T	0.57752	0.38;0.38	5.25	5.25	0.73442	.	0.055138	0.85682	D	0.000000	T	0.81527	0.4841	H	0.96547	3.84	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.87319	0.2317	10	0.87932	D	0	-13.1769	16.7193	0.85406	0.0:0.0:1.0:0.0	.	329;334	F5H3B7;Q99726	.;ZNT3_HUMAN	F	334;329;271	ENSP00000233535:S334F;ENSP00000415226:S329F	ENSP00000233535:S334F	S	-	2	0	SLC30A3	27332775	1.000000	0.71417	0.991000	0.47740	0.996000	0.88848	7.597000	0.82733	2.620000	0.88729	0.561000	0.74099	TCT	SLC30A3	-	pfam_Cation_efflux,tigrfam_Cation_efflux	ENSG00000115194		0.572	SLC30A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A3	HGNC	protein_coding	OTTHUMT00000250189.2	33	0.00	0	G			27479271	27479271	-1	no_errors	ENST00000233535	ensembl	human	known	69_37n	missense	28	24.32	9	SNP	0.997	A
SLC30A5	64924	genome.wustl.edu	37	5	68414339	68414339	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:68414339G>C	ENST00000396591.3	+	12	2063	c.1453G>C	c.(1453-1455)Gaa>Caa	p.E485Q	CTC-498J12.3_ENST00000504129.1_RNA	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	485					cellular protein metabolic process (GO:0044267)|cellular zinc ion homeostasis (GO:0006882)|cobalt ion transport (GO:0006824)|regulation of proton transport (GO:0010155)|response to zinc ion (GO:0010043)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	apical plasma membrane (GO:0016324)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		CGGCCGAATAGAAATTCTGTC	0.299																																						dbGAP											0													110.0	110.0	110.0					5																	68414339		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF212235	CCDS3996.1, CCDS34173.1, CCDS58955.1	5q13.1	2013-05-22			ENSG00000145740	ENSG00000145740		"""Solute carriers"""	19089	protein-coding gene	gene with protein product		607819				11937503, 11904301	Standard	NM_022902		Approved	ZTL1, ZnT-5, FLJ12496, FLJ12756, ZNT5, MGC5499, ZNTL1	uc003jvh.3	Q8TAD4	OTTHUMG00000131253	ENST00000396591.3:c.1453G>C	5.37:g.68414339G>C	ENSP00000379836:p.Glu485Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZM89|Q6UX54|Q7L4M4|Q8TDG3|Q9BVY8|Q9H9H1	Missense_Mutation	SNP	pfam_Cation_efflux,tigrfam_Cation_efflux	p.E485Q	ENST00000396591.3	37	c.1453	CCDS3996.1	5	.	.	.	.	.	.	.	.	.	.	G	28.8	4.950844	0.92660	.	.	ENSG00000145740	ENST00000396591;ENST00000438236	T	0.73681	-0.77	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.88328	0.6407	M	0.86028	2.79	0.80722	D	1	P;D;D	0.63880	0.942;0.987;0.993	D;D;D	0.72625	0.978;0.949;0.965	D	0.88680	0.3201	10	0.87932	D	0	.	19.6313	0.95704	0.0:0.0:1.0:0.0	.	314;314;485	Q9H9X0;Q8TAD4-2;Q8TAD4	.;.;ZNT5_HUMAN	Q	485;98	ENSP00000379836:E485Q	ENSP00000379836:E485Q	E	+	1	0	SLC30A5	68450095	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.837000	0.99465	2.937000	0.99478	0.650000	0.86243	GAA	SLC30A5	-	pfam_Cation_efflux,tigrfam_Cation_efflux	ENSG00000145740		0.299	SLC30A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A5	HGNC	protein_coding	OTTHUMT00000254017.2	217	0.00	0	G			68414339	68414339	+1	no_errors	ENST00000396591	ensembl	human	known	69_37n	missense	136	28.42	54	SNP	1.000	C
SLC33A1	9197	genome.wustl.edu	37	3	155571376	155571376	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:155571376G>A	ENST00000392845.3	-	1	791	c.411C>T	c.(409-411)ttC>ttT	p.F137F	SLC33A1_ENST00000460729.1_5'Flank|SLC33A1_ENST00000359479.3_Silent_p.F137F			O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	137					acetyl-CoA transport (GO:0015876)|cell death (GO:0008219)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	acetyl-CoA transporter activity (GO:0008521)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TGCGACGACCGAAGTTCTTAA	0.458																																						dbGAP											0													62.0	67.0	65.0					3																	155571376		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D88152	CCDS3173.1	3q25.31	2013-05-22		2002-12-06	ENSG00000169359	ENSG00000169359		"""Solute carriers"""	95	protein-coding gene	gene with protein product		603690	"""acetyl-Coenzyme A transporter"", ""spastic paraplegia 42 (autosomal dominant)"""	ACATN, SPG42		9096318, 19061983	Standard	NM_004733		Approved	AT-1, AT1	uc003fao.2	O00400	OTTHUMG00000158481	ENST00000392845.3:c.411C>T	3.37:g.155571376G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5Q2|D3DNK4	Silent	SNP	superfamily_MFS_dom_general_subst_transpt,tigrfam_AmpG_permease	p.F137	ENST00000392845.3	37	c.411	CCDS3173.1	3																																																																																			SLC33A1	-	superfamily_MFS_dom_general_subst_transpt,tigrfam_AmpG_permease	ENSG00000169359		0.458	SLC33A1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	SLC33A1	HGNC	protein_coding	OTTHUMT00000351130.3	31	0.00	0	G	NM_004733		155571376	155571376	-1	no_errors	ENST00000359479	ensembl	human	known	69_37n	silent	70	17.65	15	SNP	0.878	A
SLC35F3	148641	genome.wustl.edu	37	1	234458956	234458956	+	Missense_Mutation	SNP	G	G	C	rs547519125		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:234458956G>C	ENST00000366617.3	+	7	1461	c.1233G>C	c.(1231-1233)aaG>aaC	p.K411N	SLC35F3_ENST00000366618.3_Missense_Mutation_p.K480N			Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	411					thiamine transport (GO:0015888)	integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			CTCAGAGCAAGAACAGAAGAG	0.582											OREG0014330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0.0008	0.0	5008	,	,		14450	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													59.0	57.0	58.0					1																	234458956		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1600.1, CCDS73050.1	1q42.3	2013-05-22			ENSG00000183780	ENSG00000183780		"""Solute carriers"""	23616	protein-coding gene	gene with protein product							Standard	XM_005273070		Approved	FLJ37712	uc001hvy.1	Q8IY50	OTTHUMG00000037929	ENST00000366617.3:c.1233G>C	1.37:g.234458956G>C	ENSP00000355576:p.Lys411Asn	Somatic	2373	WXS	Illumina GAIIx	Phase_IV	Q5TDD6|Q8N9C9	Missense_Mutation	SNP	pfam_DMT,pfam_DUF250,pfam_DUF914_euk	p.K480N	ENST00000366617.3	37	c.1440		1	.	.	.	.	.	.	.	.	.	.	G	12.37	1.917345	0.33815	.	.	ENSG00000183780	ENST00000366618;ENST00000366617	T;T	0.50277	0.75;0.79	5.62	0.598	0.17512	.	0.213702	0.49305	D	0.000151	T	0.29817	0.0745	N	0.22421	0.69	0.09310	N	0.999998	B;B	0.20459	0.026;0.045	B;B	0.23419	0.021;0.046	T	0.18555	-1.0333	10	0.34782	T	0.22	-2.1567	8.7426	0.34567	0.5491:0.0:0.4509:0.0	.	411;480	Q8IY50;Q8IY50-2	S35F3_HUMAN;.	N	480;411	ENSP00000355577:K480N;ENSP00000355576:K411N	ENSP00000355576:K411N	K	+	3	2	SLC35F3	232525579	0.998000	0.40836	0.025000	0.17156	0.929000	0.56500	1.618000	0.36954	0.221000	0.20879	0.491000	0.48974	AAG	SLC35F3	-	NULL	ENSG00000183780		0.582	SLC35F3-002	KNOWN	basic|appris_candidate	protein_coding	SLC35F3	HGNC	protein_coding	OTTHUMT00000128322.1	57	0.00	0	G	NM_173508		234458956	234458956	+1	no_errors	ENST00000366618	ensembl	human	known	69_37n	missense	67	29.47	28	SNP	0.190	C
SLC36A1	206358	genome.wustl.edu	37	5	150843174	150843174	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:150843174C>T	ENST00000243389.3	+	3	427	c.204C>T	c.(202-204)ctC>ctT	p.L68L	SLC36A1_ENST00000520701.1_Silent_p.L68L|SLC36A1_ENST00000521351.1_3'UTR|SLC36A1_ENST00000429484.2_Silent_p.L68L|SLC36A1_ENST00000521925.1_Silent_p.L68L	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1	68					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen ion transmembrane transporter activity (GO:0015078)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)|symporter activity (GO:0015293)			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Acamprosate(DB00659)|Glycine(DB00145)|Hydroxyproline(DB08847)|L-Alanine(DB00160)|Spaglumic Acid(DB08835)|Vigabatrin(DB01080)	TCCTGGGACTCCCTCTGGCGG	0.468																																					Melanoma(151;1534 1860 12947 32979 37872)	dbGAP											0													118.0	106.0	110.0					5																	150843174		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK057340	CCDS4316.1	5q33.1	2013-05-22			ENSG00000123643	ENSG00000123643		"""Solute carriers"""	18761	protein-coding gene	gene with protein product		606561				11959859, 11390972	Standard	NM_078483		Approved	LYAAT-1, PAT1, TRAMD3	uc003luc.3	Q7Z2H8	OTTHUMG00000130125	ENST00000243389.3:c.204C>T	5.37:g.150843174C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JI34|Q1LZ56|Q7Z7C0|Q86YK4|Q96M74	Silent	SNP	pfam_AA_transpt_TM	p.L68	ENST00000243389.3	37	c.204	CCDS4316.1	5																																																																																			SLC36A1	-	pfam_AA_transpt_TM	ENSG00000123643		0.468	SLC36A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC36A1	HGNC	protein_coding	OTTHUMT00000252433.1	87	0.00	0	C	NM_078483		150843174	150843174	+1	no_errors	ENST00000243389	ensembl	human	known	69_37n	silent	69	29.59	29	SNP	1.000	T
SLC37A2	219855	genome.wustl.edu	37	11	124955534	124955534	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:124955534C>G	ENST00000403796.2	+	16	1690	c.1389C>G	c.(1387-1389)ttC>ttG	p.F463L	SLC37A2_ENST00000308074.4_Missense_Mutation_p.F463L|SLC37A2_ENST00000525837.1_3'UTR|SLC37A2_ENST00000407458.1_Missense_Mutation_p.F463L|SLC37A2_ENST00000298280.5_3'UTR	NM_001145290.1	NP_001138762.1	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 2	463					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	27	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		ACAATGTCTTCTACATGCTCA	0.592																																					Melanoma(11;373 620 21213 26083 47768)	dbGAP											0													83.0	76.0	78.0					11																	124955534		2201	4299	6500	-	-	-	SO:0001583	missense	0			AK074100	CCDS31714.1, CCDS44757.1	11q24.2	2013-07-17	2013-07-17		ENSG00000134955	ENSG00000134955		"""Solute carriers"""	20644	protein-coding gene	gene with protein product			"""solute carrier family 37 (glycerol-3-phosphate transporter), member 2"""				Standard	NM_198277		Approved	FLJ00171	uc010sau.2	Q8TED4	OTTHUMG00000165879	ENST00000403796.2:c.1389C>G	11.37:g.124955534C>G	ENSP00000384407:p.Phe463Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2P9|Q6P599|Q7Z7P8|Q8TEM2	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.F463L	ENST00000403796.2	37	c.1389	CCDS44757.1	11	.	.	.	.	.	.	.	.	.	.	C	23.3	4.400985	0.83120	.	.	ENSG00000134955	ENST00000403796;ENST00000407458;ENST00000308074	T;T;T	0.62232	0.04;0.04;0.04	4.86	3.95	0.45737	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.82019	0.4946	M	0.92317	3.295	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.995	D;D;P	0.77557	0.976;0.99;0.893	D	0.85726	0.1328	10	0.87932	D	0	-40.9819	11.7537	0.51863	0.0:0.8519:0.0:0.1481	.	88;463;463	B7Z480;Q8TED4-2;Q8TED4	.;.;SPX2_HUMAN	L	463	ENSP00000384407:F463L;ENSP00000385126:F463L;ENSP00000311833:F463L	ENSP00000311833:F463L	F	+	3	2	SLC37A2	124460744	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	2.079000	0.41577	1.398000	0.46701	0.655000	0.94253	TTC	SLC37A2	-	superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000134955		0.592	SLC37A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC37A2	HGNC	protein_coding	OTTHUMT00000386837.1	43	0.00	0	C	XM_166184		124955534	124955534	+1	no_errors	ENST00000308074	ensembl	human	known	69_37n	missense	32	28.89	13	SNP	1.000	G
SLC38A2	54407	genome.wustl.edu	37	12	46758433	46758433	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:46758433C>G	ENST00000256689.5	-	9	1143	c.699G>C	c.(697-699)ctG>ctC	p.L233L	SLC38A2_ENST00000551374.1_Silent_p.L71L|SLC38A2_ENST00000547252.1_5'UTR	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	233					amino acid transport (GO:0006865)|glutamate secretion (GO:0014047)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|sodium ion transport (GO:0006814)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		CCACCACAATCAGAAAGAACA	0.328																																					Ovarian(9;448 492 8335 28722 40361)	dbGAP											0													76.0	87.0	83.0					12																	46758433		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			AB037803	CCDS8749.1	12q13.11	2014-08-12			ENSG00000134294	ENSG00000134294		"""Solute carriers"""	13448	protein-coding gene	gene with protein product		605180				10747860, 17237199	Standard	NM_018976		Approved	SAT2, ATA2, KIAA1382, SNAT2	uc001rpg.3	Q96QD8	OTTHUMG00000169471	ENST00000256689.5:c.699G>C	12.37:g.46758433C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IA88|Q6ZMG2|Q9HAV3|Q9NVA8|Q9P2G5	Silent	SNP	pfam_AA_transpt_TM	p.L233	ENST00000256689.5	37	c.699	CCDS8749.1	12																																																																																			SLC38A2	-	pfam_AA_transpt_TM	ENSG00000134294		0.328	SLC38A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC38A2	HGNC	protein_coding	OTTHUMT00000404226.1	129	0.00	0	C			46758433	46758433	-1	no_errors	ENST00000256689	ensembl	human	known	69_37n	silent	73	30.48	32	SNP	0.997	G
SLC38A4	55089	genome.wustl.edu	37	12	47173590	47173590	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:47173590G>A	ENST00000447411.1	-	8	837	c.631C>T	c.(631-633)Ctt>Ttt	p.L211F	SLC38A4_ENST00000266579.4_Missense_Mutation_p.L211F	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	211					amino acid transport (GO:0006865)|ion transport (GO:0006811)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					GAAAGTGGAAGAATAATTCCA	0.308																																						dbGAP											0													72.0	68.0	69.0					12																	47173590		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF193836	CCDS8750.1	12q13	2013-05-22				ENSG00000139209		"""Solute carriers"""	14679	protein-coding gene	gene with protein product		608065				11414754	Standard	NM_018018		Approved	PAAT, NAT3, ATA3	uc001rpj.2	Q969I6		ENST00000447411.1:c.631C>T	12.37:g.47173590G>A	ENSP00000389843:p.Leu211Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K553	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.L211F	ENST00000447411.1	37	c.631	CCDS8750.1	12	.	.	.	.	.	.	.	.	.	.	G	16.96	3.266900	0.59540	.	.	ENSG00000139209	ENST00000395426;ENST00000447411;ENST00000266579;ENST00000547477	T;T;T	0.02345	4.33;4.33;4.33	5.4	5.4	0.78164	.	0.067257	0.64402	D	0.000012	T	0.07638	0.0192	L	0.41415	1.275	0.80722	D	1	P	0.40066	0.701	P	0.49637	0.617	T	0.36939	-0.9727	10	0.39692	T	0.17	-20.5901	19.5387	0.95266	0.0:0.0:1.0:0.0	.	211	Q969I6	S38A4_HUMAN	F	211	ENSP00000389843:L211F;ENSP00000266579:L211F;ENSP00000450071:L211F	ENSP00000266579:L211F	L	-	1	0	SLC38A4	45459857	1.000000	0.71417	0.989000	0.46669	0.884000	0.51177	6.362000	0.73077	2.686000	0.91538	0.555000	0.69702	CTT	SLC38A4	-	pfam_AA_transpt_TM	ENSG00000139209		0.308	SLC38A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC38A4	HGNC	protein_coding	OTTHUMT00000404574.1	81	0.00	0	G			47173590	47173590	-1	no_errors	ENST00000266579	ensembl	human	known	69_37n	missense	68	10.53	8	SNP	1.000	A
SLC38A7	55238	genome.wustl.edu	37	16	58712733	58712733	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:58712733C>G	ENST00000570101.1	-	3	1219	c.336G>C	c.(334-336)gaG>gaC	p.E112D	SLC38A7_ENST00000564100.1_Missense_Mutation_p.E112D|SLC38A7_ENST00000219320.4_Missense_Mutation_p.E112D|SLC38A7_ENST00000566953.1_Intron|SLC38A7_ENST00000564010.1_Missense_Mutation_p.E23D			Q9NVC3	S38A7_HUMAN	solute carrier family 38, member 7	112					sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	L-alanine transmembrane transporter activity (GO:0015180)|L-amino acid transmembrane transporter activity (GO:0015179)|L-asparagine transmembrane transporter activity (GO:0015182)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|L-glutamine transmembrane transporter activity (GO:0015186)|L-histidine transmembrane transporter activity (GO:0005290)|L-leucine transmembrane transporter activity (GO:0015190)|L-methionine transmembrane transporter activity (GO:0015191)|L-serine transmembrane transporter activity (GO:0015194)			endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						GGTAGGTCCTCTCATTGCTGG	0.557																																						dbGAP											0													175.0	109.0	131.0					16																	58712733		2198	4300	6498	-	-	-	SO:0001583	missense	0			BC001961	CCDS10800.1	16q21	2013-05-22			ENSG00000103042	ENSG00000103042		"""Solute carriers"""	25582	protein-coding gene	gene with protein product		614236					Standard	XM_006721229		Approved	FLJ10815	uc002eod.1	Q9NVC3	OTTHUMG00000133491	ENST00000570101.1:c.336G>C	16.37:g.58712733C>G	ENSP00000454646:p.Glu112Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53GJ9|Q9H9I5	Missense_Mutation	SNP	pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease	p.E112D	ENST00000570101.1	37	c.336	CCDS10800.1	16	.	.	.	.	.	.	.	.	.	.	C	17.88	3.496427	0.64186	.	.	ENSG00000103042	ENST00000219320	T	0.02301	4.35	5.79	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.06416	0.0165	L	0.35414	1.06	0.80722	D	1	D;D	0.69078	0.997;0.974	D;P	0.79108	0.992;0.736	T	0.49960	-0.8883	9	.	.	.	.	12.604	0.56513	0.0:0.866:0.0:0.134	.	112;112	Q9NVC3;Q9NVC3-2	S38A7_HUMAN;.	D	112	ENSP00000219320:E112D	.	E	-	3	2	SLC38A7	57270234	0.569000	0.26643	0.999000	0.59377	0.998000	0.95712	1.079000	0.30766	2.751000	0.94390	0.650000	0.86243	GAG	SLC38A7	-	pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease	ENSG00000103042		0.557	SLC38A7-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC38A7	HGNC	protein_coding	OTTHUMT00000422206.2	57	0.00	0	C	NM_018231		58712733	58712733	-1	no_errors	ENST00000219320	ensembl	human	known	69_37n	missense	49	28.99	20	SNP	0.990	G
SLC38A8	146167	genome.wustl.edu	37	16	84066953	84066953	+	Silent	SNP	G	G	A	rs142587413	byFrequency	TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:84066953G>A	ENST00000299709.3	-	3	509	c.510C>T	c.(508-510)atC>atT	p.I170I		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	170					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)		p.I170M(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TCTGGAAGGCGATCTCCCGCG	0.657																																						dbGAP											1	Substitution - Missense(1)	kidney(1)											88.0	101.0	96.0					16																	84066953		2200	4300	6500	-	-	-	SO:0001819	synonymous_variant	0				CCDS32495.1	16q23.3	2013-05-22				ENSG00000166558		"""Solute carriers"""	32434	protein-coding gene	gene with protein product		615585					Standard	XM_006721135		Approved		uc002fhg.1	A6NNN8		ENST00000299709.3:c.510C>T	16.37:g.84066953G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease	p.I170	ENST00000299709.3	37	c.510	CCDS32495.1	16																																																																																			SLC38A8	-	pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease	ENSG00000166558		0.657	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	SLC38A8	HGNC	protein_coding	OTTHUMT00000432623.1	32	0.00	0	G	NM_001080442		84066953	84066953	-1	no_errors	ENST00000299709	ensembl	human	known	69_37n	silent	37	13.95	6	SNP	0.999	A
SLC39A6	25800	genome.wustl.edu	37	18	33689702	33689702	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr18:33689702C>T	ENST00000590986.1	-	10	2411	c.2122G>A	c.(2122-2124)Gaa>Aaa	p.E708K	SLC39A6_ENST00000269187.5_Missense_Mutation_p.E708K			Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	708					cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)|zinc ion transmembrane import (GO:0071578)|zinc ion transmembrane transport (GO:0071577)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|lamellipodium membrane (GO:0031258)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						TGCAGCATTTCAGGTACCTTT	0.343																																						dbGAP											0													106.0	103.0	104.0					18																	33689702		1816	4081	5897	-	-	-	SO:0001583	missense	0			U41060	CCDS42428.1, CCDS45854.1	18q12.2	2013-05-22				ENSG00000141424		"""Solute carriers"""	18607	protein-coding gene	gene with protein product		608731	"""solute carrier family 39 (metal ion transporter), member 6"""			12659941, 12839489	Standard	NM_012319		Approved	LIV-1	uc010dmy.3	Q13433		ENST00000590986.1:c.2122G>A	18.37:g.33689702C>T	ENSP00000465915:p.Glu708Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DR49|B4E224|Q8IXR3|Q96HP5	Missense_Mutation	SNP	pfam_ZIP	p.E708K	ENST00000590986.1	37	c.2122	CCDS42428.1	18	.	.	.	.	.	.	.	.	.	.	C	33	5.245162	0.95272	.	.	ENSG00000141424	ENST00000269187;ENST00000543723	T	0.53857	0.6	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.70710	0.3255	M	0.62723	1.935	0.80722	D	1	D	0.71674	0.998	D	0.79784	0.993	T	0.72404	-0.4304	10	0.87932	D	0	-15.9748	17.3058	0.87194	0.0:1.0:0.0:0.0	.	708	Q13433	S39A6_HUMAN	K	708;363	ENSP00000269187:E708K	ENSP00000269187:E708K	E	-	1	0	SLC39A6	31943700	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.840000	0.69402	2.762000	0.94881	0.591000	0.81541	GAA	SLC39A6	-	pfam_ZIP	ENSG00000141424		0.343	SLC39A6-004	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	SLC39A6	HGNC	protein_coding	OTTHUMT00000444136.1	73	0.00	0	C			33689702	33689702	-1	no_errors	ENST00000269187	ensembl	human	known	69_37n	missense	32	31.91	15	SNP	1.000	T
SLC41A3	54946	genome.wustl.edu	37	3	125734398	125734398	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:125734398C>G	ENST00000315891.6	-	8	1147	c.909G>C	c.(907-909)ttG>ttC	p.L303F	SLC41A3_ENST00000383598.2_Missense_Mutation_p.L277F|SLC41A3_ENST00000346785.5_Missense_Mutation_p.L267F|SLC41A3_ENST00000508835.1_Missense_Mutation_p.L186F|SLC41A3_ENST00000360370.4_Missense_Mutation_p.L303F	NM_001008485.1|NM_017836.3	NP_001008485|NP_060306.3	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3	303						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		CGGTTTTGCTCAAGATGAGTC	0.473																																						dbGAP											0													215.0	180.0	192.0					3																	125734398		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33842.1, CCDS33843.1, CCDS33844.1, CCDS43144.1, CCDS54635.1	3q21.2	2013-09-02			ENSG00000114544	ENSG00000114544		"""Solute carriers"""	31046	protein-coding gene	gene with protein product		610803					Standard	NM_001164475		Approved	FLJ20473	uc003eij.3	Q96GZ6	OTTHUMG00000162678	ENST00000315891.6:c.909G>C	3.37:g.125734398C>G	ENSP00000326070:p.Leu303Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A6ND60|B3KSD9|B7Z4Y2|C9JE96|E7ENY4|Q8N342|Q8NB27|Q9H9I6|Q9HAB1|Q9NX30	Missense_Mutation	SNP	pfam_MgtE_Mg_transptr_membr,superfamily_Acyl_Trfase/lysoPLipase	p.L303F	ENST00000315891.6	37	c.909	CCDS33843.1	3	.	.	.	.	.	.	.	.	.	.	C	12.93	2.084251	0.36758	.	.	ENSG00000114544	ENST00000360370;ENST00000346785;ENST00000383598;ENST00000458524;ENST00000315891;ENST00000508835	T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14	4.54	3.63	0.41609	.	0.074595	0.53938	D	0.000042	T	0.43433	0.1247	M	0.84082	2.675	0.58432	D	0.999999	B;P;P;P;B	0.48089	0.389;0.563;0.905;0.563;0.375	B;B;P;B;B	0.44394	0.098;0.098;0.448;0.261;0.2	T	0.52465	-0.8572	10	0.66056	D	0.02	14.4098	9.6244	0.39741	0.0:0.7673:0.2326:0.0	.	186;303;267;303;277	B7Z4Y2;E7ENY4;Q96GZ6-3;Q96GZ6;Q96GZ6-7	.;.;.;S41A3_HUMAN;.	F	303;267;277;294;303;186	ENSP00000353533:L303F;ENSP00000264471:L267F;ENSP00000373092:L277F;ENSP00000326070:L303F;ENSP00000427409:L186F	ENSP00000326070:L303F	L	-	3	2	SLC41A3	127217088	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	1.604000	0.36804	2.343000	0.79666	0.591000	0.81541	TTG	SLC41A3	-	NULL	ENSG00000114544		0.473	SLC41A3-024	KNOWN	basic|CCDS	protein_coding	SLC41A3	HGNC	protein_coding	OTTHUMT00000370886.1	100	0.00	0	C	NM_017836		125734398	125734398	-1	no_errors	ENST00000315891	ensembl	human	known	69_37n	missense	136	13.92	22	SNP	1.000	G
SLC45A4	57210	genome.wustl.edu	37	8	142238315	142238315	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:142238315C>T	ENST00000024061.3	-	1	358	c.51G>A	c.(49-51)gtG>gtA	p.V17V	SLC45A4_ENST00000519067.1_Silent_p.V17V|SLC45A4_ENST00000517878.1_Intron|SLC45A4_ENST00000433583.2_Intron	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TCAGTGGACTCACAAGGGTCT	0.542																																						dbGAP											0													184.0	173.0	176.0					8																	142238315		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"""Solute carriers"""	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.51G>A	8.37:g.142238315C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZRI2|Q9ULU3	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.V17	ENST00000024061.3	37	c.51	CCDS34948.1	8																																																																																			SLC45A4	-	NULL	ENSG00000022567		0.542	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC45A4	HGNC	protein_coding	OTTHUMT00000378571.3	99	0.00	0	C	XM_050325		142238315	142238315	-1	no_errors	ENST00000024061	ensembl	human	known	69_37n	silent	137	15.95	26	SNP	0.000	T
SLC46A1	113235	genome.wustl.edu	37	17	26726705	26726705	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:26726705G>A	ENST00000440501.1	-	6	1442	c.1347C>T	c.(1345-1347)caC>caT	p.H449H	SLC46A1_ENST00000321666.5_Silent_p.H420H|CTD-2350C19.1_ENST00000583956.1_RNA|SLC46A1_ENST00000584729.1_5'UTR|SARM1_ENST00000457710.3_3'UTR	NM_080669.4	NP_542400.2	Q96NT5	PCFT_HUMAN	solute carrier family 46 (folate transporter), member 1	449					cellular iron ion homeostasis (GO:0006879)|folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|heme transporter activity (GO:0015232)|methotrexate transporter activity (GO:0015350)			lung(5)	5	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Folic Acid(DB00158)|Methotrexate(DB00563)|Sulfasalazine(DB00795)	GGAACTCGAGGTGAGGATCAG	0.542																																						dbGAP											0													93.0	95.0	94.0					17																	26726705		1961	4150	6111	-	-	-	SO:0001819	synonymous_variant	0			AK054669	CCDS74019.1, CCDS74020.1	17q11.2	2014-09-17	2007-09-24			ENSG00000076351		"""Solute carriers"""	30521	protein-coding gene	gene with protein product	"""heme carrier protein 1"", ""proton-coupled folate transporter"""	611672	"""solute carrier family 46, member 1"""			16143108, 17129779	Standard	XM_005277786		Approved	HCP1, MGC9564, PCFT	uc002hbf.2	Q96NT5		ENST00000440501.1:c.1347C>T	17.37:g.26726705G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q1HE20|Q86T92|Q8TEG3|Q96FL0	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.H449	ENST00000440501.1	37	c.1347		17																																																																																			SLC46A1	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000076351		0.542	SLC46A1-202	KNOWN	basic|appris_principal	protein_coding	SLC46A1	HGNC	protein_coding		104	0.00	0	G	NM_080669		26726705	26726705	-1	no_errors	ENST00000440501	ensembl	human	known	69_37n	silent	110	19.12	26	SNP	0.001	A
SLC4A10	57282	genome.wustl.edu	37	2	162738876	162738876	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:162738876C>T	ENST00000446997.1	+	10	1209	c.1116C>T	c.(1114-1116)ttC>ttT	p.F372F	SLC4A10_ENST00000421911.1_Silent_p.F372F|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000272716.5_Silent_p.F342F|SLC4A10_ENST00000415876.2_Silent_p.F342F|SLC4A10_ENST00000535165.1_Intron|SLC4A10_ENST00000375514.5_Silent_p.F353F	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	372					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	GATTTTTGTTCATTCTTCTGG	0.328																																						dbGAP											0													38.0	37.0	37.0					2																	162738876		1893	4172	6065	-	-	-	SO:0001819	synonymous_variant	0				CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"""Solute carriers"""	13811	protein-coding gene	gene with protein product		605556	"""solute carrier family 4, sodium bicarbonate transporter-like, member 10"""			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.1116C>T	2.37:g.162738876C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Silent	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.F372	ENST00000446997.1	37	c.1116	CCDS54411.1	2																																																																																			SLC4A10	-	pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk	ENSG00000144290		0.328	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC4A10	HGNC	protein_coding	OTTHUMT00000333090.1	51	0.00	0	C	NM_022058		162738876	162738876	+1	no_errors	ENST00000446997	ensembl	human	known	69_37n	silent	34	34.62	18	SNP	1.000	T
SLC4A11	83959	genome.wustl.edu	37	20	3215416	3215416	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:3215416G>C	ENST00000380056.3	-	2	308	c.261C>G	c.(259-261)gtC>gtG	p.V87V	SLC4A11_ENST00000380059.3_Silent_p.V114V|SLC4A11_ENST00000539553.2_Silent_p.V71V	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	87					bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						TCTCAAGGTTGACATTGACAA	0.577																																					NSCLC(190;922 2139 10266 10292 38692)	dbGAP											0													98.0	81.0	87.0					20																	3215416		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"""Solute carriers"""	16438	protein-coding gene	gene with protein product		610206	"""corneal endothelial dystrophy 2 (autosomal recessive)"", ""solute carrier family 4, sodium bicarbonate transporter-like, member 11"", ""corneal dystrophy and perceptive deafness 1"""	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.261C>G	20.37:g.3215416G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Silent	SNP	pfam_HCO3_transpt_C,pfam_PTS_EIIA_2,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk	p.V114	ENST00000380056.3	37	c.342	CCDS13052.1	20																																																																																			SLC4A11	-	NULL	ENSG00000088836		0.577	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	SLC4A11	HGNC	protein_coding	OTTHUMT00000077728.1	37	0.00	0	G			3215416	3215416	-1	no_errors	ENST00000380059	ensembl	human	known	69_37n	silent	63	17.11	13	SNP	1.000	C
SLC4A2	6522	genome.wustl.edu	37	7	150771920	150771920	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:150771920G>C	ENST00000485713.1	+	19	4079	c.3039G>C	c.(3037-3039)caG>caC	p.Q1013H	SLC4A2_ENST00000461735.1_Missense_Mutation_p.Q999H|SLC4A2_ENST00000413384.2_Missense_Mutation_p.Q1013H|RP11-148K1.12_ENST00000485974.1_RNA|SLC4A2_ENST00000392826.2_Missense_Mutation_p.Q1004H|FASTK_ENST00000489884.1_5'Flank|SLC4A2_ENST00000310317.5_Missense_Mutation_p.Q931H	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	1013	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGAGACACAGATCACCACGT	0.597																																						dbGAP											0													46.0	49.0	48.0					7																	150771920		2202	4300	6502	-	-	-	SO:0001583	missense	0				CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"""Solute carriers"""	11028	protein-coding gene	gene with protein product	"""anion exchanger 2 type a"", ""anion exchanger 2 type b1"", ""anion exchanger 2 type b2"""	109280	"""erythrocyte membrane protein band 3-like 1"", ""solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"""	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.3039G>C	7.37:g.150771920G>C	ENSP00000419412:p.Gln1013His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_2,tigrfam_HCO3_transpt_euk	p.Q1013H	ENST00000485713.1	37	c.3039	CCDS5917.1	7	.	.	.	.	.	.	.	.	.	.	G	15.13	2.742904	0.49151	.	.	ENSG00000164889	ENST00000485713;ENST00000413384;ENST00000310317;ENST00000392826;ENST00000461735	T;T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44;-1.44	5.29	3.38	0.38709	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.86598	0.5971	M	0.76002	2.32	0.58432	D	0.999996	B;D;D	0.76494	0.086;0.999;0.999	B;D;D	0.77004	0.202;0.981;0.989	D	0.83931	0.0306	10	0.38643	T	0.18	.	8.1813	0.31313	0.2445:0.0:0.7555:0.0	.	1004;999;1013	F8W682;P04920-2;P04920	.;.;B3A2_HUMAN	H	1013;1013;931;1004;999	ENSP00000419412:Q1013H;ENSP00000405600:Q1013H;ENSP00000311402:Q931H;ENSP00000376571:Q1004H;ENSP00000419164:Q999H	ENSP00000311402:Q931H	Q	+	3	2	SLC4A2	150402853	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.399000	0.52586	0.714000	0.32081	0.561000	0.74099	CAG	SLC4A2	-	pfam_HCO3_transpt_C,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk	ENSG00000164889		0.597	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SLC4A2	HGNC	protein_coding	OTTHUMT00000351039.1	62	0.00	0	G	NM_003040		150771920	150771920	+1	no_errors	ENST00000413384	ensembl	human	known	69_37n	missense	61	18.67	14	SNP	1.000	C
SLC4A3	6508	genome.wustl.edu	37	2	220501566	220501566	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:220501566C>T	ENST00000358055.3	+	16	3017	c.2505C>T	c.(2503-2505)ttC>ttT	p.F835F	SLC4A3_ENST00000373762.3_Silent_p.F862F|SLC4A3_ENST00000317151.3_Silent_p.F835F|SLC4A3_ENST00000373760.2_Silent_p.F835F|SLC4A3_ENST00000273063.6_Silent_p.F862F			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	835	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CACTCATTTTCATCTACGAGA	0.567																																						dbGAP											0													150.0	143.0	146.0					2																	220501566		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.2505C>T	2.37:g.220501566C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Silent	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk	p.F862	ENST00000358055.3	37	c.2586	CCDS2445.1	2																																																																																			SLC4A3	-	pfam_HCO3_transpt_C,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk	ENSG00000114923		0.567	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SLC4A3	HGNC	protein_coding	OTTHUMT00000316472.1	87	0.00	0	C	NM_005070		220501566	220501566	+1	no_errors	ENST00000273063	ensembl	human	known	69_37n	silent	69	20.69	18	SNP	1.000	T
SLC4A7	9497	genome.wustl.edu	37	3	27450961	27450961	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:27450961G>A	ENST00000295736.5	-	13	1870	c.1800C>T	c.(1798-1800)ttC>ttT	p.F600F	SLC4A7_ENST00000425128.2_Intron|SLC4A7_ENST00000440156.1_Silent_p.F596F|SLC4A7_ENST00000455077.1_Silent_p.F481F|SLC4A7_ENST00000428386.1_Silent_p.F476F|SLC4A7_ENST00000388777.4_Silent_p.F150F|SLC4A7_ENST00000435667.2_Silent_p.F485F|SLC4A7_ENST00000446700.1_Silent_p.F592F|SLC4A7_ENST00000437179.1_Silent_p.F481F|SLC4A7_ENST00000445684.1_Silent_p.F596F|SLC4A7_ENST00000454389.1_Silent_p.F609F	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	600					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	ATGCATCCTTGAAGTCACTCA	0.428																																						dbGAP											0													130.0	130.0	130.0					3																	27450961		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"""Solute carriers"""	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.1800C>T	3.37:g.27450961G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Silent	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk	p.F609	ENST00000295736.5	37	c.1827	CCDS33721.1	3																																																																																			SLC4A7	-	pfam_HCO3_transpt_C,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk	ENSG00000033867		0.428	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	SLC4A7	HGNC	protein_coding	OTTHUMT00000341230.2	66	0.00	0	G	NM_003615		27450961	27450961	-1	no_errors	ENST00000454389	ensembl	human	known	69_37n	silent	67	22.09	19	SNP	1.000	A
SLC4A7	9497	genome.wustl.edu	37	3	27473043	27473043	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:27473043C>G	ENST00000295736.5	-	7	939	c.869G>C	c.(868-870)aGa>aCa	p.R290T	SLC4A7_ENST00000425128.2_Missense_Mutation_p.R282T|SLC4A7_ENST00000440156.1_Missense_Mutation_p.R286T|SLC4A7_ENST00000455077.1_Intron|SLC4A7_ENST00000428386.1_Intron|SLC4A7_ENST00000388777.4_5'UTR|SLC4A7_ENST00000435667.2_Intron|SLC4A7_ENST00000446700.1_Missense_Mutation_p.R282T|SLC4A7_ENST00000437179.1_Intron|SLC4A7_ENST00000445684.1_Missense_Mutation_p.R286T|SLC4A7_ENST00000454389.1_Missense_Mutation_p.R299T	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	290					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	GGTTCCAGCTCTTGAAGAAGG	0.522																																						dbGAP											0													89.0	96.0	94.0					3																	27473043		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"""Solute carriers"""	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.869G>C	3.37:g.27473043C>G	ENSP00000295736:p.Arg290Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk	p.R299T	ENST00000295736.5	37	c.896	CCDS33721.1	3	.	.	.	.	.	.	.	.	.	.	C	15.91	2.973256	0.53614	.	.	ENSG00000033867	ENST00000295736;ENST00000454389;ENST00000440156;ENST00000446700;ENST00000445684;ENST00000425128	T;T;T;T;T;T	0.78246	-1.08;-1.08;-1.16;-1.16;-1.16;0.36	5.98	5.98	0.97165	Bicarbonate transporter, cytoplasmic (1);	0.393637	0.25166	N	0.032634	T	0.68054	0.2959	N	0.22421	0.69	0.47819	D	0.999528	P;P;P;P;B	0.34462	0.454;0.454;0.454;0.454;0.245	B;B;B;B;B	0.34931	0.192;0.192;0.192;0.192;0.138	T	0.63695	-0.6579	10	0.17832	T	0.49	.	19.4443	0.94840	0.0:1.0:0.0:0.0	.	286;282;286;299;290	E9PFN4;E9PGC1;B5M453;E9PDL9;Q9Y6M7	.;.;.;.;S4A7_HUMAN	T	290;299;286;282;286;282	ENSP00000295736:R290T;ENSP00000390394:R299T;ENSP00000414797:R286T;ENSP00000406605:R282T;ENSP00000406804:R286T;ENSP00000401949:R282T	ENSP00000295736:R290T	R	-	2	0	SLC4A7	27448047	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.575000	0.67430	2.847000	0.97988	0.591000	0.81541	AGA	SLC4A7	-	pfam_HCO3_transpt_cyt	ENSG00000033867		0.522	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	SLC4A7	HGNC	protein_coding	OTTHUMT00000341230.2	83	0.00	0	C	NM_003615		27473043	27473043	-1	no_errors	ENST00000454389	ensembl	human	known	69_37n	missense	74	12.94	11	SNP	1.000	G
SLC4A7	9497	genome.wustl.edu	37	3	27478002	27478002	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:27478002C>T	ENST00000295736.5	-	5	509	c.439G>A	c.(439-441)Gac>Aac	p.D147N	SLC4A7_ENST00000425128.2_Missense_Mutation_p.D152N|SLC4A7_ENST00000440156.1_Missense_Mutation_p.D156N|SLC4A7_ENST00000455077.1_Missense_Mutation_p.D152N|SLC4A7_ENST00000428386.1_Missense_Mutation_p.D147N|SLC4A7_ENST00000388777.4_5'UTR|SLC4A7_ENST00000435667.2_Missense_Mutation_p.D156N|SLC4A7_ENST00000446700.1_Missense_Mutation_p.D152N|SLC4A7_ENST00000437179.1_Missense_Mutation_p.D152N|SLC4A7_ENST00000445684.1_Missense_Mutation_p.D156N|SLC4A7_ENST00000454389.1_Missense_Mutation_p.D156N	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	147					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	CTCCATCGGTCACCGCCATCT	0.368																																						dbGAP											0													92.0	82.0	85.0					3																	27478002		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"""Solute carriers"""	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.439G>A	3.37:g.27478002C>T	ENSP00000295736:p.Asp147Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk	p.D156N	ENST00000295736.5	37	c.466	CCDS33721.1	3	.	.	.	.	.	.	.	.	.	.	C	17.86	3.493271	0.64186	.	.	ENSG00000033867	ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000425128;ENST00000428179	T;T;T;T;T;T;T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41	5.99	5.99	0.97316	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.139973	0.64402	D	0.000005	T	0.68769	0.3037	L	0.31664	0.95	0.80722	D	1	P;B;P;B;P;B;B;P;B	0.46512	0.879;0.001;0.879;0.067;0.722;0.0;0.0;0.722;0.001	P;B;P;B;B;B;B;B;B	0.54270	0.747;0.007;0.747;0.145;0.423;0.012;0.004;0.423;0.007	T	0.59915	-0.7364	10	0.15952	T	0.53	.	20.468	0.99161	0.0:1.0:0.0:0.0	.	156;152;152;156;156;152;147;147;152	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;B6DY53;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;.;S4A7_HUMAN;.	N	147;147;156;156;152;152;152;156;156;152;147	ENSP00000295736:D147N;ENSP00000416368:D147N;ENSP00000390394:D156N;ENSP00000414797:D156N;ENSP00000394252:D152N;ENSP00000406605:D152N;ENSP00000407382:D152N;ENSP00000406804:D156N;ENSP00000395336:D156N;ENSP00000401949:D152N;ENSP00000388703:D147N	ENSP00000295736:D147N	D	-	1	0	SLC4A7	27453006	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.783000	0.85696	2.848000	0.98002	0.585000	0.79938	GAC	SLC4A7	-	pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr	ENSG00000033867		0.368	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	SLC4A7	HGNC	protein_coding	OTTHUMT00000341230.2	59	0.00	0	C	NM_003615		27478002	27478002	-1	no_errors	ENST00000454389	ensembl	human	known	69_37n	missense	70	20.45	18	SNP	1.000	T
SLC4A8	9498	genome.wustl.edu	37	12	51890848	51890848	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:51890848C>G	ENST00000453097.2	+	22	3238	c.3021C>G	c.(3019-3021)ctC>ctG	p.L1007L	SLC4A8_ENST00000358657.3_Silent_p.L1034L	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8											NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		TAGATGATCTCATGCCTGAAA	0.433																																						dbGAP											0													106.0	102.0	103.0					12																	51890848		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"""Solute carriers"""	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.3021C>G	12.37:g.51890848C>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.L1007	ENST00000453097.2	37	c.3021	CCDS44890.1	12																																																																																			SLC4A8	-	tigrfam_HCO3_transpt_euk	ENSG00000050438		0.433	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A8	HGNC	protein_coding	OTTHUMT00000404356.1	77	0.00	0	C	NM_004858		51890848	51890848	+1	no_errors	ENST00000453097	ensembl	human	known	69_37n	silent	82	17.17	17	SNP	0.999	G
SLC51A	200931	genome.wustl.edu	37	3	195953910	195953910	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:195953910G>C	ENST00000296327.5	+	3	417	c.208G>C	c.(208-210)Gag>Cag	p.E70Q		NM_152672.5	NP_689885.4	Q86UW1	OSTA_HUMAN	solute carrier family 51, alpha subunit	70					bile acid and bile salt transport (GO:0015721)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)									Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)	CATCTTCCTGGAGGATGCCGT	0.627																																						dbGAP											0													134.0	116.0	122.0					3																	195953910		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3314.1	3q29	2013-05-22			ENSG00000163959	ENSG00000163959		"""Solute carriers"""	29955	protein-coding gene	gene with protein product	"""organic solute transporter, alpha subunit"""	612084				12719432, 20538072	Standard	NM_152672		Approved	OSTalpha	uc003fwd.3	Q86UW1	OTTHUMG00000155684	ENST00000296327.5:c.208G>C	3.37:g.195953910G>C	ENSP00000296327:p.Glu70Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZMC7	Missense_Mutation	SNP	pfam_Ost-alpha	p.E70Q	ENST00000296327.5	37	c.208	CCDS3314.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.6|21.6	4.178469|4.178469	0.78564|0.78564	.|.	.|.	ENSG00000163959|ENSG00000163959	ENST00000296327|ENST00000428985	T|.	0.52526|.	0.66|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.284575|.	0.24820|.	N|.	0.035335|.	T|T	0.76990|0.76990	0.4065|0.4065	M|M	0.74881|0.74881	2.28|2.28	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.981|.	D;P|.	0.87578|.	0.998;0.69|.	T|T	0.76091|0.76091	-0.3086|-0.3086	10|5	0.28530|.	T|.	0.3|.	.|.	18.6732|18.6732	0.91519|0.91519	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	70;70|.	B4DVA3;Q86UW1|.	.;OSTA_HUMAN|.	Q|C	70|40	ENSP00000296327:E70Q|.	ENSP00000296327:E70Q|.	E|W	+|+	1|3	0|0	AC069257.9|AC069257.9	197438307|197438307	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.616000|0.616000	0.37450|0.37450	6.178000|6.178000	0.71968|0.71968	2.652000|2.652000	0.90054|0.90054	0.563000|0.563000	0.77884|0.77884	GAG|TGG	SLC51A	-	NULL	ENSG00000163959		0.627	SLC51A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC51A	HGNC	protein_coding	OTTHUMT00000341253.1	93	0.00	0	G	NM_152672		195953910	195953910	+1	no_errors	ENST00000296327	ensembl	human	known	69_37n	missense	79	15.96	15	SNP	1.000	C
SLC5A10	125206	genome.wustl.edu	37	17	18922811	18922811	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:18922811C>T	ENST00000395645.3	+	12	1335	c.1317C>T	c.(1315-1317)ctC>ctT	p.L439L	SLC5A10_ENST00000317977.6_Silent_p.L409L|SLC5A10_ENST00000395643.2_Silent_p.L412L|SLC5A10_ENST00000395647.2_Silent_p.L455L|SLC5A10_ENST00000417251.2_Silent_p.L403L|SLC5A10_ENST00000395642.1_Silent_p.L409L	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	439					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						GCGGGCAACTCTTCATCTACA	0.627																																						dbGAP											0													76.0	63.0	68.0					17																	18922811		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS11201.2, CCDS42275.1, CCDS59277.1, CCDS59278.1, CCDS74008.1	17p11.2	2013-07-19	2013-07-19		ENSG00000154025	ENSG00000154025		"""Solute carriers"""	23155	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 10"""				Standard	NM_152351		Approved	SGLT5	uc002gut.2	A0PJK1	OTTHUMG00000178143	ENST00000395645.3:c.1317C>T	17.37:g.18922811C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	Silent	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.L455	ENST00000395645.3	37	c.1365	CCDS42275.1	17																																																																																			SLC5A10	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	ENSG00000154025		0.627	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A10	HGNC	protein_coding	OTTHUMT00000132129.2	41	0.00	0	C	NM_152351		18922811	18922811	+1	no_errors	ENST00000395647	ensembl	human	known	69_37n	silent	36	16.28	7	SNP	0.995	T
SLC5A9	200010	genome.wustl.edu	37	1	48705107	48705107	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:48705107G>C	ENST00000438567.2	+	12	1627	c.1575G>C	c.(1573-1575)ctG>ctC	p.L525L	SLC5A9_ENST00000236495.5_Silent_p.L550L|SLC5A9_ENST00000533824.1_Silent_p.L546L	NM_001011547.2	NP_001011547.2	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	525					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						CAGCAGTGCTGAAGGACTTCC	0.582																																						dbGAP											0													273.0	240.0	251.0					1																	48705107		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BX648549	CCDS30709.2, CCDS44136.1	1p33	2013-07-19	2013-07-19		ENSG00000117834	ENSG00000117834		"""Solute carriers"""	22146	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 9"""				Standard	NM_001011547		Approved	SGLT4	uc001crn.2	Q2M3M2	OTTHUMG00000007959	ENST00000438567.2:c.1575G>C	1.37:g.48705107G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KY87|B7ZL45|B7ZL47|E9PAK4|E9PJ08|Q5TET3	Missense_Mutation	SNP	NULL	p.E17Q	ENST00000438567.2	37	c.49	CCDS30709.2	1																																																																																			SLC5A9	-	NULL	ENSG00000117834		0.582	SLC5A9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A9	HGNC	protein_coding	OTTHUMT00000022061.3	146	0.00	0	G	XM_117174		48705107	48705107	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000532322	ensembl	human	known	69_37n	missense	138	22.03	39	SNP	1.000	C
SLC6A20	54716	genome.wustl.edu	37	3	45801403	45801403	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:45801403C>G	ENST00000358525.4	-	10	1690	c.1575G>C	c.(1573-1575)ctG>ctC	p.L525L	SLC6A20_ENST00000456124.2_Silent_p.L525L|SLC6A20_ENST00000353278.4_Silent_p.L488L|SLC6A20_ENST00000493980.1_5'Flank	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	525					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|glycine transport (GO:0015816)|ion transport (GO:0006811)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		TGTAGTCGCTCAGGTAGAAGA	0.597																																						dbGAP											0													121.0	119.0	120.0					3																	45801403		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF075260	CCDS2730.1, CCDS43077.1	3p21.6	2013-05-22			ENSG00000163817	ENSG00000163817		"""Solute carriers"""	30927	protein-coding gene	gene with protein product		605616				9932288, 11352561	Standard	NM_022405		Approved	XT3, Xtrp3	uc011bai.2	Q9NP91	OTTHUMG00000133446	ENST00000358525.4:c.1575G>C	3.37:g.45801403C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A1A4F2|O75590|Q8TF10|Q9NPQ2|Q9NQ77	Silent	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan	p.L525	ENST00000358525.4	37	c.1575	CCDS43077.1	3																																																																																			SLC6A20	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	ENSG00000163817		0.597	SLC6A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A20	HGNC	protein_coding	OTTHUMT00000257318.3	51	0.00	0	C	NM_020208		45801403	45801403	-1	no_errors	ENST00000358525	ensembl	human	known	69_37n	silent	44	26.23	16	SNP	0.974	G
SLC6A3	6531	genome.wustl.edu	37	5	1416257	1416257	+	Silent	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:1416257C>A	ENST00000270349.9	-	7	1114	c.987G>T	c.(985-987)ctG>ctT	p.L329L	SLC6A3_ENST00000453492.2_Silent_p.L329L	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	329					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	AGAAGGCGATCAGCACCCCGA	0.617																																						dbGAP											0													106.0	94.0	98.0					5																	1416257		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"""Solute carriers"""	11049	protein-coding gene	gene with protein product	"""dopamine transporter"""	126455	"""solute carrier family 6 (neurotransmitter transporter, dopamine), member 3"", ""dopamine transporter 1"""	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.987G>T	5.37:g.1416257C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RUN4|Q14996	Silent	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_dopamine	p.L329	ENST00000270349.9	37	c.987	CCDS3863.1	5																																																																																			SLC6A3	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000142319		0.617	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A3	HGNC	protein_coding	OTTHUMT00000253650.3	56	0.00	0	C	NM_001044		1416257	1416257	-1	no_errors	ENST00000270349	ensembl	human	known	69_37n	silent	69	15.85	13	SNP	0.654	A
SLC6A5	9152	genome.wustl.edu	37	11	20652252	20652252	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:20652252C>T	ENST00000525748.1	+	10	1788	c.1515C>T	c.(1513-1515)gtC>gtT	p.V505V	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	505					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CTCTAATTGTCACCTGCACCA	0.498																																						dbGAP											0													213.0	185.0	195.0					11																	20652252		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"""Solute carriers"""	11051	protein-coding gene	gene with protein product	"""glycine transporter 2"""	604159	"""solute carrier family 6 (neurotransmitter transporter, glycine), member 5"""	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.1515C>T	11.37:g.20652252C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O95288|Q4VAM7|Q9BX77	Silent	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	p.V505	ENST00000525748.1	37	c.1515	CCDS7854.1	11																																																																																			SLC6A5	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	ENSG00000165970		0.498	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A5	HGNC	protein_coding	OTTHUMT00000387497.2	99	0.00	0	C	NM_004211		20652252	20652252	+1	no_errors	ENST00000525748	ensembl	human	known	69_37n	silent	105	23.91	33	SNP	0.964	T
SLC6A8	6535	genome.wustl.edu	37	X	152960586	152960586	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:152960586C>T	ENST00000253122.5	+	13	2301	c.1825C>T	c.(1825-1827)Cag>Tag	p.Q609*	SLC6A8_ENST00000430077.2_Nonsense_Mutation_p.Q494*|SLC6A8_ENST00000485324.1_3'UTR	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	609					cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|creatine transmembrane transport (GO:1902598)|creatine transport (GO:0015881)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	creatine transmembrane transporter activity (GO:0005308)|creatine:sodium symporter activity (GO:0005309)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	GTACCGAGCTCAGGACGCAGA	0.627																																						dbGAP											0													29.0	22.0	25.0					X																	152960586		2200	4298	6498	-	-	-	SO:0001587	stop_gained	0				CCDS14726.1, CCDS48190.1	Xq28	2013-07-19	2013-07-19		ENSG00000130821	ENSG00000130821		"""Solute carriers"""	11055	protein-coding gene	gene with protein product	"""creatine transporter"""	300036	"""solute carrier family 6 (neurotransmitter transporter, creatine), member 8"""			7774949	Standard	NM_001142805		Approved	CRTR, CT1	uc004fib.3	P48029	OTTHUMG00000024208	ENST00000253122.5:c.1825C>T	X.37:g.152960586C>T	ENSP00000253122:p.Gln609*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2KY47|B4DIA3|E9PFC0|Q13032|Q66I36	Nonsense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_creatine	p.Q609*	ENST00000253122.5	37	c.1825	CCDS14726.1	X	.	.	.	.	.	.	.	.	.	.	c	38	6.982708	0.97979	.	.	ENSG00000130821	ENST00000253122;ENST00000430077;ENST00000328897	.	.	.	5.3	5.3	0.74995	.	0.098992	0.42682	U	0.000663	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	16.7313	0.85435	0.0:1.0:0.0:0.0	.	.	.	.	X	609;494;703	.	ENSP00000253122:Q609X	Q	+	1	0	SLC6A8	152613780	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	6.171000	0.71926	2.209000	0.71365	0.525000	0.51046	CAG	SLC6A8	-	NULL	ENSG00000130821		0.627	SLC6A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A8	HGNC	protein_coding	OTTHUMT00000061003.1	37	0.00	0	C			152960586	152960586	+1	no_errors	ENST00000253122	ensembl	human	known	69_37n	nonsense	21	40.00	14	SNP	1.000	T
SLC7A9	11136	genome.wustl.edu	37	19	33334770	33334770	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:33334770G>A	ENST00000023064.4	-	10	1256	c.1065C>T	c.(1063-1065)atC>atT	p.I355I	SLC7A9_ENST00000590341.1_Silent_p.I355I|SLC7A9_ENST00000587772.1_Silent_p.I355I	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	355					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-cystine transmembrane transporter activity (GO:0015184)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	CATAAAAGATGATGGCGGGGG	0.552																																					GBM(181;1335 2108 9644 44178 46689)	dbGAP											0													49.0	44.0	46.0					19																	33334770		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF141289	CCDS12425.1	19q13.11	2013-07-19	2013-07-19		ENSG00000021488	ENSG00000021488		"""Solute carriers"""	11067	protein-coding gene	gene with protein product		604144		CSNU3		10471498	Standard	NM_014270		Approved		uc021usa.1	P82251	OTTHUMG00000180287	ENST00000023064.4:c.1065C>T	19.37:g.33334770G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9A6	Silent	SNP	pfam_AA-permease_dom,pirsf_AA/rel_permease1	p.I355	ENST00000023064.4	37	c.1065	CCDS12425.1	19																																																																																			SLC7A9	-	pfam_AA-permease_dom,pirsf_AA/rel_permease1	ENSG00000021488		0.552	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A9	HGNC	protein_coding	OTTHUMT00000450585.1	38	0.00	0	G			33334770	33334770	-1	no_errors	ENST00000023064	ensembl	human	known	69_37n	silent	34	10.53	4	SNP	1.000	A
SLC7A9	11136	genome.wustl.edu	37	19	33353106	33353106	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:33353106C>T	ENST00000023064.4	-	6	813	c.622G>A	c.(622-624)Gat>Aat	p.D208N	SLC7A9_ENST00000590341.1_Missense_Mutation_p.D208N|RN7SKP22_ENST00000365097.1_RNA|SLC7A9_ENST00000587772.1_Missense_Mutation_p.D208N	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	208					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-cystine transmembrane transporter activity (GO:0015184)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	AAAGAATTATCAAAATTCTTT	0.512																																					GBM(181;1335 2108 9644 44178 46689)	dbGAP											0													58.0	57.0	58.0					19																	33353106		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF141289	CCDS12425.1	19q13.11	2013-07-19	2013-07-19		ENSG00000021488	ENSG00000021488		"""Solute carriers"""	11067	protein-coding gene	gene with protein product		604144		CSNU3		10471498	Standard	NM_014270		Approved		uc021usa.1	P82251	OTTHUMG00000180287	ENST00000023064.4:c.622G>A	19.37:g.33353106C>T	ENSP00000023064:p.Asp208Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9A6	Missense_Mutation	SNP	pfam_AA-permease_dom,pirsf_AA/rel_permease1	p.D208N	ENST00000023064.4	37	c.622	CCDS12425.1	19	.	.	.	.	.	.	.	.	.	.	C	10.92	1.487294	0.26686	.	.	ENSG00000021488	ENST00000023064	D	0.89875	-2.58	5.12	4.06	0.47325	Amino acid permease domain (1);	0.365309	0.34603	N	0.003823	T	0.78616	0.4311	N	0.13272	0.32	0.22888	N	0.998604	B	0.06786	0.001	B	0.13407	0.009	T	0.66937	-0.5797	10	0.38643	T	0.18	.	10.0952	0.42471	0.0:0.5634:0.3608:0.0759	.	208	P82251	BAT1_HUMAN	N	208	ENSP00000023064:D208N	ENSP00000023064:D208N	D	-	1	0	SLC7A9	38044946	0.150000	0.22732	0.986000	0.45419	0.626000	0.37791	0.483000	0.22292	1.254000	0.44035	0.561000	0.74099	GAT	SLC7A9	-	pfam_AA-permease_dom,pirsf_AA/rel_permease1	ENSG00000021488		0.512	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A9	HGNC	protein_coding	OTTHUMT00000450585.1	52	0.00	0	C			33353106	33353106	-1	no_errors	ENST00000023064	ensembl	human	known	69_37n	missense	38	36.67	22	SNP	0.953	T
SLC8A1	6546	genome.wustl.edu	37	2	40402401	40402401	+	Splice_Site	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:40402401C>G	ENST00000403092.1	-	4	1969	c.1936G>C	c.(1936-1938)Ggt>Cgt	p.G646R	SLC8A1_ENST00000402441.1_Intron|SLC8A1_ENST00000542024.1_Intron|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1_ENST00000406391.2_Intron|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000405269.1_Intron|SLC8A1_ENST00000406785.2_Intron|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000408028.2_Intron|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000542756.1_Splice_Site_p.G646R|SLC8A1_ENST00000405901.3_Splice_Site_p.G646R|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1_ENST00000332839.4_Splice_Site_p.G646R			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	646					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AAATGCTTACCAAGCTCATTC	0.358																																						dbGAP											0													72.0	71.0	71.0					2																	40402401		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.1936+1G>C	2.37:g.40402401C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,pfscan_DnaJ_N,prints_Na_Ca_Ex,prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex	p.G646R	ENST00000403092.1	37	c.1936	CCDS1806.1	2	.	.	.	.	.	.	.	.	.	.	C	16.28	3.079499	0.55753	.	.	ENSG00000183023	ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000332839	T;T;T;T	0.27104	1.69;1.74;1.69;1.74	5.66	5.66	0.87406	.	0.480492	0.23016	N	0.052903	T	0.27169	0.0666	L	0.48642	1.525	0.80722	D	1	B;B	0.19583	0.0;0.037	B;B	0.25759	0.001;0.063	T	0.03231	-1.1058	9	.	.	.	.	17.247	0.87031	0.0:1.0:0.0:0.0	.	646;646	F6VPY9;P32418	.;NAC1_HUMAN	R	646	ENSP00000440727:G646R;ENSP00000384763:G646R;ENSP00000385678:G646R;ENSP00000332931:G646R	.	G	-	1	0	SLC8A1	40255905	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.411000	0.59781	2.682000	0.91365	0.650000	0.86243	GGT	SLC8A1	-	tigrfam_Na_Ca_Ex	ENSG00000183023		0.358	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC8A1	HGNC	protein_coding	OTTHUMT00000326065.1	63	0.00	0	C	NM_021097	Missense_Mutation	40402401	40402401	-1	no_errors	ENST00000332839	ensembl	human	known	69_37n	missense	46	26.98	17	SNP	1.000	G
SLC9A3	6550	genome.wustl.edu	37	5	475774	475774	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:475774G>A	ENST00000264938.3	-	15	2162	c.2153C>T	c.(2152-2154)tCa>tTa	p.S718L	CTD-2228K2.7_ENST00000607005.1_RNA|CTD-2228K2.7_ENST00000606288.1_RNA|CTD-2228K2.5_ENST00000510714.1_5'Flank|CTD-2228K2.7_ENST00000607286.1_RNA|CTD-2228K2.5_ENST00000342584.3_5'Flank|CTD-2228K2.7_ENST00000606319.1_RNA|CTD-2228K2.5_ENST00000510604.1_5'Flank|SLC9A3_ENST00000514375.1_Missense_Mutation_p.S709L	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	718					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CTCGGTGTCTGAAAGTTCCAA	0.597																																						dbGAP											0													37.0	33.0	35.0					5																	475774		2136	4162	6298	-	-	-	SO:0001583	missense	0				CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"""Solute carriers"""	11073	protein-coding gene	gene with protein product		182307	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3"""	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.2153C>T	5.37:g.475774G>A	ENSP00000264938:p.Ser718Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZKR2|E9PF67|Q3MIW3	Missense_Mutation	SNP	pfam_Cation/H_exchanger,superfamily_Reg_factor_effector_bac,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.S718L	ENST00000264938.3	37	c.2153	CCDS3855.1	5	.	.	.	.	.	.	.	.	.	.	G	12.18	1.859604	0.32884	.	.	ENSG00000066230	ENST00000264938;ENST00000514375	T;T	0.72167	-0.63;-0.63	4.4	4.4	0.53042	.	2.186560	0.01838	N	0.035116	T	0.76543	0.4002	M	0.76328	2.33	0.37442	D	0.914456	B;B	0.14805	0.011;0.002	B;B	0.12837	0.008;0.001	T	0.58399	-0.7643	10	0.52906	T	0.07	.	15.1066	0.72326	0.0:0.0:1.0:0.0	.	709;718	E9PF67;P48764	.;SL9A3_HUMAN	L	718;709	ENSP00000264938:S718L;ENSP00000422983:S709L	ENSP00000264938:S718L	S	-	2	0	SLC9A3	528774	0.982000	0.34865	0.663000	0.29738	0.091000	0.18340	3.351000	0.52232	2.174000	0.68829	0.462000	0.41574	TCA	SLC9A3	-	NULL	ENSG00000066230		0.597	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A3	HGNC	protein_coding	OTTHUMT00000206677.2	40	0.00	0	G	NM_004174		475774	475774	-1	no_errors	ENST00000264938	ensembl	human	known	69_37n	missense	17	43.33	13	SNP	0.995	A
SLC9C1	285335	genome.wustl.edu	37	3	111886182	111886182	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:111886182C>T	ENST00000305815.5	-	26	3502	c.3250G>A	c.(3250-3252)Gaa>Aaa	p.E1084K	SLC9C1_ENST00000487372.1_Missense_Mutation_p.E1036K	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	1084					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										GTGAAATCTTCAATACTTTGT	0.294																																						dbGAP											0													57.0	56.0	56.0					3																	111886182		2197	4286	6483	-	-	-	SO:0001583	missense	0			AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.3250G>A	3.37:g.111886182C>T	ENSP00000306627:p.Glu1084Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.E1084K	ENST00000305815.5	37	c.3250	CCDS33817.1	3	.	.	.	.	.	.	.	.	.	.	C	11.51	1.658932	0.29515	.	.	ENSG00000172139	ENST00000305815;ENST00000487372	T;T	0.77877	-1.13;-1.13	4.33	2.49	0.30216	.	0.571710	0.16667	N	0.204516	T	0.72581	0.3478	L	0.42245	1.32	0.09310	N	1	P;D	0.57257	0.856;0.979	P;P	0.49999	0.62;0.628	T	0.63051	-0.6723	10	0.59425	D	0.04	-7.8857	5.1092	0.14800	0.2054:0.6896:0.0:0.1051	.	1036;1084	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	K	1084;1036	ENSP00000306627:E1084K;ENSP00000420688:E1036K	ENSP00000306627:E1084K	E	-	1	0	SLC9A10	113368872	0.492000	0.26027	0.011000	0.14972	0.530000	0.34684	1.897000	0.39799	0.746000	0.32786	0.655000	0.94253	GAA	SLC9C1	-	NULL	ENSG00000172139		0.294	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9C1	HGNC	protein_coding	OTTHUMT00000354066.1	68	0.00	0	C	NM_183061		111886182	111886182	-1	no_errors	ENST00000305815	ensembl	human	known	69_37n	missense	96	16.52	19	SNP	0.016	T
SLC9C1	285335	genome.wustl.edu	37	3	111950267	111950267	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:111950267C>T	ENST00000305815.5	-	13	1765	c.1513G>A	c.(1513-1515)Gag>Aag	p.E505K	SLC9C1_ENST00000487372.1_Missense_Mutation_p.E457K	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	505					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										TTAAAGATCTCATCTATTTCC	0.338																																						dbGAP											0													169.0	164.0	166.0					3																	111950267		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.1513G>A	3.37:g.111950267C>T	ENSP00000306627:p.Glu505Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.E505K	ENST00000305815.5	37	c.1513	CCDS33817.1	3	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957271	0.53400	.	.	ENSG00000172139	ENST00000305815;ENST00000487372	T;T	0.78924	-1.18;-1.22	5.44	4.54	0.55810	.	0.326559	0.26140	N	0.026118	T	0.79936	0.4532	L	0.32530	0.975	0.29325	N	0.867103	D;P	0.59767	0.986;0.952	D;P	0.64042	0.921;0.612	T	0.75479	-0.3303	10	0.48119	T	0.1	-12.0084	12.284	0.54781	0.0:0.8291:0.1709:0.0	.	457;505	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	K	505;457	ENSP00000306627:E505K;ENSP00000420688:E457K	ENSP00000306627:E505K	E	-	1	0	SLC9A10	113432957	0.991000	0.36638	0.924000	0.36721	0.142000	0.21351	1.873000	0.39558	1.354000	0.45846	0.514000	0.50259	GAG	SLC9C1	-	NULL	ENSG00000172139		0.338	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9C1	HGNC	protein_coding	OTTHUMT00000354066.1	301	0.00	0	C	NM_183061		111950267	111950267	-1	no_errors	ENST00000305815	ensembl	human	known	69_37n	missense	272	18.07	60	SNP	0.932	T
SLC9C2	284525	genome.wustl.edu	37	1	173472445	173472445	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:173472445C>T	ENST00000367714.3	-	27	3753	c.3331G>A	c.(3331-3333)Gaa>Aaa	p.E1111K	SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	1111					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										CCTGGTTGTTCAAAGACCGTG	0.303																																						dbGAP											0													124.0	111.0	115.0					1																	173472445		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.3331G>A	1.37:g.173472445C>T	ENSP00000356687:p.Glu1111Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86UF3	Missense_Mutation	SNP	pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.E1111K	ENST00000367714.3	37	c.3331	CCDS1308.1	1	.	.	.	.	.	.	.	.	.	.	C	3.496	-0.102908	0.06967	.	.	ENSG00000162753	ENST00000367714	T	0.05139	3.49	4.03	-3.59	0.04583	.	2.284100	0.01623	N	0.023118	T	0.00906	0.0030	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.35847	-0.9772	10	0.06099	T	0.92	3.2525	5.3257	0.15905	0.1428:0.343:0.0:0.5142	.	1111	Q5TAH2	S9A11_HUMAN	K	1111	ENSP00000356687:E1111K	ENSP00000356687:E1111K	E	-	1	0	SLC9A11	171739068	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.760000	0.04756	-0.821000	0.04312	-1.988000	0.00451	GAA	SLC9C2	-	NULL	ENSG00000162753		0.303	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9C2	HGNC	protein_coding	OTTHUMT00000084205.1	215	0.92	2	C	NM_178527		173472445	173472445	-1	no_errors	ENST00000367714	ensembl	human	known	69_37n	missense	226	17.22	47	SNP	0.000	T
SLCO1C1	53919	genome.wustl.edu	37	12	20874912	20874912	+	Missense_Mutation	SNP	T	T	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:20874912T>C	ENST00000266509.2	+	8	1318	c.950T>C	c.(949-951)tTt>tCt	p.F317S	SLCO1C1_ENST00000545604.1_Missense_Mutation_p.F317S|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.F199S|SLCO1C1_ENST00000381552.1_Missense_Mutation_p.F317S|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.F268S	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	317					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	AAATCCAAGTTTATTATAGAT	0.363																																						dbGAP											0													55.0	57.0	57.0					12																	20874912		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.950T>C	12.37:g.20874912T>C	ENSP00000266509:p.Phe317Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.F317S	ENST00000266509.2	37	c.950	CCDS8683.1	12	.	.	.	.	.	.	.	.	.	.	T	12.92	2.082963	0.36758	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552;ENST00000545102	T;T;T;T;T	0.37411	1.2;1.29;1.23;1.2;1.28	4.76	4.76	0.60689	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.757438	0.12345	N	0.477116	T	0.49029	0.1533	M	0.63428	1.95	0.58432	D	0.999999	P;B;P;B	0.51057	0.941;0.213;0.599;0.153	P;B;B;B	0.56216	0.794;0.18;0.374;0.18	T	0.32903	-0.9889	10	0.09338	T	0.73	.	14.7324	0.69391	0.0:0.0:0.0:1.0	.	199;268;317;317	F5GZD6;B7Z3Q3;Q5JPA4;Q9NYB5	.;.;.;SO1C1_HUMAN	S	317;268;317;317;199	ENSP00000444149:F317S;ENSP00000438665:F268S;ENSP00000266509:F317S;ENSP00000370964:F317S;ENSP00000444527:F199S	ENSP00000266509:F317S	F	+	2	0	SLCO1C1	20766179	1.000000	0.71417	0.989000	0.46669	0.867000	0.49689	7.131000	0.77243	2.116000	0.64780	0.460000	0.39030	TTT	SLCO1C1	-	pfam_OA_transporter,pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	ENSG00000139155		0.363	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO1C1	HGNC	protein_coding	OTTHUMT00000401765.1	75	0.00	0	T	NM_017435		20874912	20874912	+1	no_errors	ENST00000381552	ensembl	human	known	69_37n	missense	36	36.84	21	SNP	1.000	C
SLCO1A2	6579	genome.wustl.edu	37	12	21450344	21450344	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:21450344G>C	ENST00000307378.6	-	10	1789	c.1069C>G	c.(1069-1071)Cta>Gta	p.L357V	SLCO1A2_ENST00000458504.1_Missense_Mutation_p.L225V|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.L357V|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.L225V|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.L355V	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	357					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48					Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	ATACCCATTAGAAAGATTGCA	0.403																																						dbGAP											0													141.0	135.0	137.0					12																	21450344		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453		"""Solute carriers"""	10956	protein-coding gene	gene with protein product		602883	"""solute carrier family 21 (organic anion transporter), member 3"""	SLC21A3		9007731	Standard	NM_134431		Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259	ENST00000307378.6:c.1069C>G	12.37:g.21450344G>C	ENSP00000305974:p.Leu357Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UGP7|Q9UL38	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.L357V	ENST00000307378.6	37	c.1069	CCDS8686.1	12	.	.	.	.	.	.	.	.	.	.	G	13.97	2.397167	0.42512	.	.	ENSG00000084453	ENST00000307378;ENST00000452078;ENST00000458504;ENST00000537524;ENST00000390670	T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76	5.02	3.12	0.35913	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.072093	0.56097	D	0.000031	T	0.58481	0.2125	M	0.82323	2.585	0.80722	D	1	D;D;P	0.60160	0.983;0.987;0.751	P;P;B	0.56563	0.801;0.749;0.393	T	0.56251	-0.8010	10	0.27785	T	0.31	.	6.401	0.21638	0.3853:0.0:0.6146:0.0	.	337;355;357	Q8IV69;P46721-2;P46721	.;.;SO1A2_HUMAN	V	357;357;225;225;355	ENSP00000305974:L357V;ENSP00000393973:L357V;ENSP00000394854:L225V;ENSP00000439401:L225V;ENSP00000375088:L355V	ENSP00000305974:L357V	L	-	1	2	SLCO1A2	21341611	1.000000	0.71417	0.973000	0.42090	0.782000	0.44232	1.656000	0.37355	0.579000	0.29504	0.655000	0.94253	CTA	SLCO1A2	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	ENSG00000084453		0.403	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO1A2	HGNC	protein_coding	OTTHUMT00000343648.3	99	0.00	0	G	NM_021094		21450344	21450344	-1	no_errors	ENST00000307378	ensembl	human	known	69_37n	missense	41	24.07	13	SNP	1.000	C
SLCO3A1	28232	genome.wustl.edu	37	15	92647641	92647641	+	Nonsense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:92647641C>G	ENST00000318445.6	+	4	1092	c.878C>G	c.(877-879)tCa>tGa	p.S293*	SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Nonsense_Mutation_p.S293*	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	293					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	CCCCCGCACTCAGAGCCCGCC	0.607																																						dbGAP											0													117.0	100.0	106.0					15																	92647641		2198	4298	6496	-	-	-	SO:0001587	stop_gained	0			AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"""Solute carriers"""	10952	protein-coding gene	gene with protein product		612435	"""solute carrier family 21 (organic anion transporter), member 11"""	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.878C>G	15.37:g.92647641C>G	ENSP00000320634:p.Ser293*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Nonsense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.S293*	ENST00000318445.6	37	c.878	CCDS10371.1	15	.	.	.	.	.	.	.	.	.	.	C	38	6.811493	0.97857	.	.	ENSG00000176463	ENST00000318445;ENST00000424469;ENST00000556649;ENST00000555549	.	.	.	5.31	4.39	0.52855	.	1.017430	0.07836	N	0.962081	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	10.1084	0.42548	0.0:0.8461:0.0:0.1539	.	.	.	.	X	293;293;86;12	.	ENSP00000320634:S293X	S	+	2	0	SLCO3A1	90448645	0.957000	0.32711	0.997000	0.53966	0.982000	0.71751	1.472000	0.35376	1.208000	0.43306	0.655000	0.94253	TCA	SLCO3A1	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	ENSG00000176463		0.607	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO3A1	HGNC	protein_coding	OTTHUMT00000313529.1	141	0.00	0	C	NM_013272		92647641	92647641	+1	no_errors	ENST00000318445	ensembl	human	known	69_37n	nonsense	96	19.17	23	SNP	0.999	G
SLCO4C1	353189	genome.wustl.edu	37	5	101583077	101583077	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:101583077C>G	ENST00000310954.6	-	10	1976	c.1690G>C	c.(1690-1692)Gaa>Caa	p.E564Q		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GCTTTAGCTTCAAAACCAAAA	0.323																																						dbGAP											0													109.0	120.0	117.0					5																	101583077		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"""Solute carriers"""	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.1690G>C	5.37:g.101583077C>G	ENSP00000309741:p.Glu564Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.E564Q	ENST00000310954.6	37	c.1690	CCDS34205.1	5	.	.	.	.	.	.	.	.	.	.	C	14.38	2.519448	0.44866	.	.	ENSG00000173930	ENST00000310954	T	0.38401	1.14	6.17	5.31	0.75309	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.075619	0.56097	D	0.000036	T	0.25344	0.0616	N	0.26042	0.785	0.29626	N	0.845841	B	0.26577	0.153	B	0.30401	0.115	T	0.20207	-1.0282	10	0.13108	T	0.6	.	10.9813	0.47497	0.0:0.8037:0.1292:0.0671	.	564	Q6ZQN7	SO4C1_HUMAN	Q	564	ENSP00000309741:E564Q	ENSP00000309741:E564Q	E	-	1	0	SLCO4C1	101610976	0.958000	0.32768	0.991000	0.47740	0.748000	0.42578	1.793000	0.38764	1.621000	0.50320	0.655000	0.94253	GAA	SLCO4C1	-	pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	ENSG00000173930		0.323	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO4C1	HGNC	protein_coding	OTTHUMT00000370332.1	86	0.00	0	C	NM_180991		101583077	101583077	-1	no_errors	ENST00000310954	ensembl	human	known	69_37n	missense	58	28.40	23	SNP	0.991	G
SLFN12L	100506736	genome.wustl.edu	37	17	33802158	33802158	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:33802158G>C	ENST00000260908.7	-	4	1668	c.1551C>G	c.(1549-1551)ttC>ttG	p.F517L	RP11-686D22.9_ENST00000587076.1_RNA|SLFN12L_ENST00000361112.4_Missense_Mutation_p.F546L|SLFN12L_ENST00000449046.1_Missense_Mutation_p.F548L	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	517						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						GGCTCAAGTAGAAGATCTTTG	0.378																																						dbGAP											0													256.0	194.0	213.0					17																	33802158		692	1591	2283	-	-	-	SO:0001583	missense	0			AK172761	CCDS56026.1	17q12	2011-05-24				ENSG00000205045			33920	protein-coding gene	gene with protein product		614956				9846487	Standard	NM_001195790		Approved		uc021tuy.1	Q6IEE8		ENST00000260908.7:c.1551C>G	17.37:g.33802158G>C	ENSP00000437635:p.Phe517Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	F5H6G3	Missense_Mutation	SNP	pfam_ATPase_AAA-4	p.F548L	ENST00000260908.7	37	c.1644	CCDS56026.1	17	.	.	.	.	.	.	.	.	.	.	G	0.501	-0.870959	0.02570	.	.	ENSG00000205045	ENST00000260908;ENST00000361112;ENST00000449046	T;T;T	0.02656	4.22;4.32;4.21	2.15	-0.412	0.12367	.	.	.	.	.	T	0.01353	0.0044	N	0.10916	0.065	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.47787	-0.9090	9	0.02654	T	1	.	6.2171	0.20661	0.0:0.0:0.4408:0.5592	.	546	Q6IEE8-2	.	L	517;546;548	ENSP00000437635:F517L;ENSP00000354412:F546L;ENSP00000389348:F548L	ENSP00000437635:F517L	F	-	3	2	SLFN12L	30826271	0.000000	0.05858	0.000000	0.03702	0.640000	0.38277	-0.857000	0.04286	-0.227000	0.09884	0.195000	0.17529	TTC	SLFN12L	-	NULL	ENSG00000205045		0.378	SLFN12L-004	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	SLFN12L	HGNC	protein_coding	OTTHUMT00000395748.2	183	0.00	0	G	XM_496206		33802158	33802158	-1	no_errors	ENST00000449046	ensembl	human	known	69_37n	missense	108	28.95	44	SNP	0.000	C
SLFN12L	100506736	genome.wustl.edu	37	17	33802452	33802452	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:33802452G>C	ENST00000260908.7	-	4	1374	c.1257C>G	c.(1255-1257)ttC>ttG	p.F419L	RP11-686D22.9_ENST00000587076.1_RNA|SLFN12L_ENST00000361112.4_Missense_Mutation_p.F448L|SLFN12L_ENST00000449046.1_Missense_Mutation_p.F450L	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	419						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						CATGTTGTGAGAACAGATTTC	0.393																																						dbGAP											0													56.0	46.0	49.0					17																	33802452		692	1591	2283	-	-	-	SO:0001583	missense	0			AK172761	CCDS56026.1	17q12	2011-05-24				ENSG00000205045			33920	protein-coding gene	gene with protein product		614956				9846487	Standard	NM_001195790		Approved		uc021tuy.1	Q6IEE8		ENST00000260908.7:c.1257C>G	17.37:g.33802452G>C	ENSP00000437635:p.Phe419Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	F5H6G3	Missense_Mutation	SNP	pfam_ATPase_AAA-4	p.F450L	ENST00000260908.7	37	c.1350	CCDS56026.1	17	.	.	.	.	.	.	.	.	.	.	G	9.321	1.057945	0.19987	.	.	ENSG00000205045	ENST00000260908;ENST00000361112;ENST00000449046	T;T;T	0.04603	3.61;3.72;3.59	2.38	1.37	0.22104	.	.	.	.	.	T	0.05410	0.0143	L	0.55743	1.74	0.09310	N	1	B	0.19817	0.039	B	0.14023	0.01	T	0.32161	-0.9917	9	0.59425	D	0.04	.	4.2806	0.10831	0.2045:0.0:0.7955:0.0	.	448	Q6IEE8-2	.	L	419;448;450	ENSP00000437635:F419L;ENSP00000354412:F448L;ENSP00000389348:F450L	ENSP00000437635:F419L	F	-	3	2	SLFN12L	30826565	0.040000	0.19996	0.022000	0.16811	0.081000	0.17604	1.141000	0.31528	1.313000	0.45069	0.205000	0.17691	TTC	SLFN12L	-	NULL	ENSG00000205045		0.393	SLFN12L-004	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	SLFN12L	HGNC	protein_coding	OTTHUMT00000395748.2	74	0.00	0	G	XM_496206		33802452	33802452	-1	no_errors	ENST00000449046	ensembl	human	known	69_37n	missense	34	27.66	13	SNP	0.027	C
SLIRP	81892	genome.wustl.edu	37	14	78174465	78174465	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:78174465C>A	ENST00000557342.1	+	1	52	c.11C>A	c.(10-12)tCa>tAa	p.S4*	ALKBH1_ENST00000216489.3_5'Flank|SLIRP_ENST00000557623.1_Nonsense_Mutation_p.S4*|SLIRP_ENST00000557431.1_Nonsense_Mutation_p.S4*|SLIRP_ENST00000238688.5_Nonsense_Mutation_p.S4*	NM_001267864.1|NM_031210.5	NP_001254793.1|NP_112487.1	Q9GZT3	SLIRP_HUMAN	SRA stem-loop interacting RNA binding protein	4					mitochondrion morphogenesis (GO:0070584)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of transcription, DNA-templated (GO:0006355)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	acrosomal vesicle (GO:0001669)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)|sperm flagellum (GO:0036126)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			kidney(1)|prostate(1)	2						ATGGCGGCCTCAGCAGCGAGA	0.562																																						dbGAP											0													58.0	59.0	59.0					14																	78174465		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF253980	CCDS9866.1, CCDS58331.1, CCDS73668.1	14q24.3	2013-02-12	2011-06-17	2011-06-17	ENSG00000119705	ENSG00000119705		"""RNA binding motif (RRM) containing"""	20495	protein-coding gene	gene with protein product		610211	"""chromosome 14 open reading frame 156"""	C14orf156		16762838	Standard	NM_031210		Approved	DC50	uc001xue.5	Q9GZT3		ENST00000557342.1:c.11C>A	14.37:g.78174465C>A	ENSP00000450909:p.Ser4*	Somatic		WXS	Illumina GAIIx	Phase_IV	J3KMY7	Nonsense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S4*	ENST00000557342.1	37	c.11	CCDS9866.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.3|24.3	4.515730|4.515730	0.85495|0.85495	.|.	.|.	ENSG00000119705|ENSG00000119705	ENST00000556831|ENST00000557342;ENST00000238688;ENST00000557623;ENST00000557431	.|.	.|.	.|.	5.17|5.17	1.33|1.33	0.21861|0.21861	.|.	.|0.545093	.|0.17054	.|N	.|0.188830	T|.	0.16041|.	0.0386|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.37619|.	-0.9698|.	3|.	.|0.02654	.|T	.|1	-1.0258|-1.0258	7.5391|7.5391	0.27727|0.27727	0.0:0.6919:0.0:0.3081|0.0:0.6919:0.0:0.3081	.|.	.|.	.|.	.|.	K|X	2|4	.|.	.|ENSP00000238688:S4X	Q|S	+|+	1|2	0|0	SLIRP|SLIRP	77244218|77244218	0.001000|0.001000	0.12720|0.12720	0.057000|0.057000	0.19452|0.19452	0.011000|0.011000	0.07611|0.07611	0.753000|0.753000	0.26376|0.26376	0.309000|0.309000	0.22966|0.22966	-1.128000|-1.128000	0.01989|0.01989	CAG|TCA	SLIRP	-	NULL	ENSG00000119705		0.562	SLIRP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLIRP	HGNC	protein_coding	OTTHUMT00000413901.1	49	0.00	0	C	NM_031210		78174465	78174465	+1	no_errors	ENST00000557342	ensembl	human	known	69_37n	nonsense	20	62.96	34	SNP	0.004	A
SLIRP	81892	genome.wustl.edu	37	14	78174487	78174487	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:78174487G>C	ENST00000557342.1	+	1	74	c.33G>C	c.(31-33)gcG>gcC	p.A11A	ALKBH1_ENST00000216489.3_5'Flank|SLIRP_ENST00000557623.1_Silent_p.A11A|SLIRP_ENST00000557431.1_Silent_p.A11A|SLIRP_ENST00000238688.5_Silent_p.A11A	NM_001267864.1|NM_031210.5	NP_001254793.1|NP_112487.1	Q9GZT3	SLIRP_HUMAN	SRA stem-loop interacting RNA binding protein	11					mitochondrion morphogenesis (GO:0070584)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of transcription, DNA-templated (GO:0006355)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	acrosomal vesicle (GO:0001669)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)|sperm flagellum (GO:0036126)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			kidney(1)|prostate(1)	2						GTGCTGCGGCGCTGCGTAGAA	0.547																																						dbGAP											0													74.0	74.0	74.0					14																	78174487		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF253980	CCDS9866.1, CCDS58331.1, CCDS73668.1	14q24.3	2013-02-12	2011-06-17	2011-06-17	ENSG00000119705	ENSG00000119705		"""RNA binding motif (RRM) containing"""	20495	protein-coding gene	gene with protein product		610211	"""chromosome 14 open reading frame 156"""	C14orf156		16762838	Standard	NM_031210		Approved	DC50	uc001xue.5	Q9GZT3		ENST00000557342.1:c.33G>C	14.37:g.78174487G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	J3KMY7	Missense_Mutation	SNP	NULL	p.A11P	ENST00000557342.1	37	c.31	CCDS9866.1	14	.	.	.	.	.	.	.	.	.	.	G	8.546	0.874452	0.17395	.	.	ENSG00000119705	ENST00000556831	.	.	.	5.93	-11.9	0.00025	.	.	.	.	.	T	0.15392	0.0371	.	.	.	0.09310	N	0.999991	.	.	.	.	.	.	T	0.05801	-1.0863	4	.	.	.	-4.7711	3.5893	0.07982	0.3096:0.4042:0.1465:0.1397	.	.	.	.	P	9	.	.	R	+	2	0	SLIRP	77244240	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-6.070000	0.00082	-4.013000	0.00082	-1.011000	0.02470	CGC	SLIRP	-	NULL	ENSG00000119705		0.547	SLIRP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLIRP	HGNC	protein_coding	OTTHUMT00000413901.1	70	0.00	0	G	NM_031210		78174487	78174487	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000555890	ensembl	human	known	69_37n	missense	51	17.74	11	SNP	0.000	C
SLIT2	9353	genome.wustl.edu	37	4	20620617	20620617	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:20620617G>A	ENST00000504154.1	+	37	4827	c.4575G>A	c.(4573-4575)acG>acA	p.T1525T	SLIT2_ENST00000503837.1_Silent_p.T1521T|SLIT2_ENST00000503823.1_Silent_p.T1517T|SLIT2_ENST00000273739.5_Silent_p.T1538T	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1525	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039, ECO:0000305}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GCGGCTGTACGAGGTGTGTGT	0.502																																						dbGAP											0													104.0	92.0	96.0					4																	20620617		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.4575G>A	4.37:g.20620617G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Silent	SNP	pfam_EGF-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.T1525	ENST00000504154.1	37	c.4575	CCDS3426.1	4																																																																																			SLIT2	-	smart_Cys_knot_C,pfscan_Cys_knot_C	ENSG00000145147		0.502	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT2	HGNC	protein_coding	OTTHUMT00000250396.2	81	0.00	0	G			20620617	20620617	+1	no_errors	ENST00000504154	ensembl	human	known	69_37n	silent	59	20.00	15	SNP	0.953	A
SLITRK2	84631	genome.wustl.edu	37	X	144906173	144906173	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:144906173G>C	ENST00000370490.1	+	1	6485	c.2230G>C	c.(2230-2232)Gaa>Caa	p.E744Q	TMEM257_ENST00000408967.2_5'Flank|SLITRK2_ENST00000434188.2_Missense_Mutation_p.E744Q|SLITRK2_ENST00000428560.2_Missense_Mutation_p.E744Q|SLITRK2_ENST00000447897.2_Missense_Mutation_p.E744Q|SLITRK2_ENST00000413937.2_Missense_Mutation_p.E744Q			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	744					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TGAGCTGCTAGAAAAGCAGGC	0.483																																						dbGAP											0													138.0	135.0	136.0					X																	144906173		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.2230G>C	X.37:g.144906173G>C	ENSP00000359521:p.Glu744Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.E744Q	ENST00000370490.1	37	c.2230	CCDS14680.1	X	.	.	.	.	.	.	.	.	.	.	G	14.38	2.518646	0.44763	.	.	ENSG00000185985	ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6	5.15	5.15	0.70609	.	0.178189	0.47093	D	0.000244	T	0.48314	0.1493	L	0.50333	1.59	0.38516	D	0.948591	P	0.45348	0.856	B	0.41088	0.347	T	0.51949	-0.8640	10	0.29301	T	0.29	-4.0487	15.0564	0.71917	0.0:0.0:1.0:0.0	.	744	Q9H156	SLIK2_HUMAN	Q	744	ENSP00000411681:E744Q;ENSP00000359521:E744Q;ENSP00000397015:E744Q;ENSP00000407347:E744Q;ENSP00000412010:E744Q	ENSP00000359521:E744Q	E	+	1	0	SLITRK2	144713865	1.000000	0.71417	0.917000	0.36280	0.996000	0.88848	6.021000	0.70832	2.141000	0.66446	0.513000	0.50165	GAA	SLITRK2	-	NULL	ENSG00000185985		0.483	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK2	HGNC	protein_coding	OTTHUMT00000058633.1	52	0.00	0	G	NM_032539		144906173	144906173	+1	no_errors	ENST00000370490	ensembl	human	known	69_37n	missense	40	16.67	8	SNP	0.999	C
SLITRK3	22865	genome.wustl.edu	37	3	164907887	164907887	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:164907887C>G	ENST00000475390.1	-	2	1175	c.732G>C	c.(730-732)aaG>aaC	p.K244N	SLITRK3_ENST00000241274.3_Missense_Mutation_p.K244N			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	244	LRRCT 1.				axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CCAGCCAACTCTTCAGTTGTA	0.468										HNSCC(40;0.11)																												dbGAP											0													104.0	108.0	107.0					3																	164907887		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.732G>C	3.37:g.164907887C>G	ENSP00000420091:p.Lys244Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q1RMY6	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.K244N	ENST00000475390.1	37	c.732	CCDS3197.1	3	.	.	.	.	.	.	.	.	.	.	C	12.47	1.949038	0.34377	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.53423	0.62;0.62	5.85	4.97	0.65823	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.39687	N	0.001295	T	0.52773	0.1755	M	0.88031	2.925	0.46167	D	0.998907	P	0.43477	0.808	B	0.37144	0.242	T	0.63778	-0.6560	10	0.72032	D	0.01	-20.3998	11.8546	0.52429	0.0:0.86:0.0:0.14	.	244	O94933	SLIK3_HUMAN	N	244	ENSP00000420091:K244N;ENSP00000241274:K244N	ENSP00000241274:K244N	K	-	3	2	SLITRK3	166390581	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.596000	0.36718	1.477000	0.48234	0.655000	0.94253	AAG	SLITRK3	-	smart_Cys-rich_flank_reg_C	ENSG00000121871		0.468	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLITRK3	HGNC	protein_coding	OTTHUMT00000350126.1	68	0.00	0	C	NM_014926		164907887	164907887	-1	no_errors	ENST00000241274	ensembl	human	known	69_37n	missense	56	23.29	17	SNP	1.000	G
SLITRK6	84189	genome.wustl.edu	37	13	86369320	86369320	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr13:86369320G>C	ENST00000400286.2	-	2	1922	c.1324C>G	c.(1324-1326)Ctt>Gtt	p.L442V		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	442					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TTGTATTCAAGATATAAGTAT	0.348																																						dbGAP											0													85.0	81.0	82.0					13																	86369320		1823	4092	5915	-	-	-	SO:0001583	missense	0			AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.1324C>G	13.37:g.86369320G>C	ENSP00000383143:p.Leu442Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.L442V	ENST00000400286.2	37	c.1324	CCDS41903.1	13	.	.	.	.	.	.	.	.	.	.	G	10.13	1.264886	0.23136	.	.	ENSG00000184564	ENST00000400286	T	0.08102	3.13	5.7	4.85	0.62838	.	0.000000	0.56097	U	0.000033	T	0.13072	0.0317	M	0.78344	2.41	0.47009	D	0.999289	B	0.19331	0.035	B	0.21917	0.037	T	0.01988	-1.1234	10	0.54805	T	0.06	-10.0924	9.1829	0.37152	0.0774:0.1478:0.7748:0.0	.	442	Q9H5Y7	SLIK6_HUMAN	V	442	ENSP00000383143:L442V	ENSP00000383143:L442V	L	-	1	0	SLITRK6	85267321	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	4.190000	0.58365	1.385000	0.46445	0.650000	0.86243	CTT	SLITRK6	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000184564		0.348	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK6	HGNC	protein_coding	OTTHUMT00000045404.2	38	0.00	0	G	NM_032229		86369320	86369320	-1	no_errors	ENST00000400286	ensembl	human	known	69_37n	missense	40	21.57	11	SNP	1.000	C
SLITRK5	26050	genome.wustl.edu	37	13	88329645	88329645	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr13:88329645C>G	ENST00000325089.6	+	2	2221	c.2002C>G	c.(2002-2004)Ctc>Gtc	p.L668V	SLITRK5_ENST00000400028.3_Missense_Mutation_p.L427V	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	668					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)					TGTGTTAATTCTCAGCCTCCT	0.637																																						dbGAP											0													131.0	130.0	130.0					13																	88329645		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.2002C>G	13.37:g.88329645C>G	ENSP00000366283:p.Leu668Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.L668V	ENST00000325089.6	37	c.2002	CCDS9465.1	13	.	.	.	.	.	.	.	.	.	.	C	28.0	4.877540	0.91664	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.61980	0.06;0.42	5.47	5.47	0.80525	.	0.000000	0.64402	D	0.000001	T	0.79684	0.4488	M	0.78344	2.41	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.99	T	0.80344	-0.1422	9	.	.	.	-17.5217	16.8036	0.85620	0.0:1.0:0.0:0.0	.	427;668	B4DSH5;O94991	.;SLIK5_HUMAN	V	668;427	ENSP00000366283:L668V;ENSP00000442244:L427V	.	L	+	1	0	SLITRK5	87127646	0.997000	0.39634	1.000000	0.80357	0.839000	0.47603	3.345000	0.52182	2.554000	0.86153	0.555000	0.69702	CTC	SLITRK5	-	NULL	ENSG00000165300		0.637	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK5	HGNC	protein_coding	OTTHUMT00000045416.3	113	0.88	1	C			88329645	88329645	+1	no_errors	ENST00000325089	ensembl	human	known	69_37n	missense	68	21.84	19	SNP	1.000	G
SLMAP	7871	genome.wustl.edu	37	3	57898407	57898407	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:57898407G>C	ENST00000428312.1	+	18	2042	c.1948G>C	c.(1948-1950)Gaa>Caa	p.E650Q	SLMAP_ENST00000449503.2_Missense_Mutation_p.E612Q|SLMAP_ENST00000495364.1_Missense_Mutation_p.E184Q|SLMAP_ENST00000442599.2_Missense_Mutation_p.E118Q|SLMAP_ENST00000416870.1_Missense_Mutation_p.E143Q|SLMAP_ENST00000472546.1_3'UTR|SLMAP_ENST00000494088.1_Missense_Mutation_p.E143Q|SLMAP_ENST00000295952.3_Missense_Mutation_p.E633Q|SLMAP_ENST00000295951.3_Missense_Mutation_p.E633Q			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	650					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|smooth endoplasmic reticulum (GO:0005790)				endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		CCAGCAGAGAGAAGAAGCAAC	0.373																																						dbGAP											0													64.0	64.0	64.0					3																	57898407		2202	4293	6495	-	-	-	SO:0001583	missense	0			AF100750	CCDS33774.1	3p21.2-p14.3	2008-07-18			ENSG00000163681	ENSG00000163681			16643	protein-coding gene	gene with protein product	"""Sarcolemmal-associated protein"""	602701				9405447, 11042152	Standard	NM_007159		Approved	SLAP, KIAA1601	uc003djd.1	Q14BN4	OTTHUMG00000133764	ENST00000428312.1:c.1948G>C	3.37:g.57898407G>C	ENSP00000398661:p.Glu650Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14C95|Q6AI54|Q6UXC9|Q6ZVQ8|Q8NCW9|Q9H297|Q9HCH1|Q9Y681	Missense_Mutation	SNP	pfam_FHA_dom,pfam_PFD_beta-like,superfamily_SMAD_FHA_domain,superfamily_Prefoldin,smart_FHA_dom,pfscan_FHA_dom	p.E650Q	ENST00000428312.1	37	c.1948		3	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	16.74|16.74|16.74	3.206851|3.206851|3.206851	0.58343|0.58343|0.58343	.|.|.	.|.|.	ENSG00000163681|ENSG00000163681|ENSG00000163681	ENST00000417128|ENST00000295951;ENST00000295952;ENST00000416870;ENST00000428312;ENST00000449503;ENST00000537224;ENST00000442599;ENST00000495364;ENST00000494088|ENST00000416658;ENST00000438794	.|T;T;T;T;T;T;T;D|D;D	.|0.84298|0.82433	.|-1.2;-1.2;-1.2;1.46;1.45;1.56;-1.2;-1.83|-1.61;-1.61	5.2|5.2|5.2	5.2|5.2|5.2	0.72013|0.72013|0.72013	.|.|.	0.305369|0.305369|.	0.39544|0.39544|.	N|N|.	0.001322|0.001322|.	D|D|D	0.84524|0.84524|0.84524	0.5491|0.5491|0.5491	L|L|L	0.56769|0.56769|0.56769	1.78|1.78|1.78	0.47308|0.47308|0.47308	D|D|D	0.999389|0.999389|0.999389	.|D;D;D;D;D;P;P;P|.	.|0.64830|.	.|0.986;0.985;0.984;0.992;0.994;0.835;0.698;0.95|.	.|P;P;P;D;D;B;B;P|.	.|0.65987|.	.|0.901;0.873;0.894;0.94;0.929;0.311;0.164;0.487|.	T|T|T	0.81360|0.81360|0.81360	-0.0968|-0.0968|-0.0968	6|10|7	.|0.22706|0.26408	.|T|T	.|0.39|0.33	-3.4423|-3.4423|-3.4423	12.4615|12.4615|12.4615	0.55734|0.55734|0.55734	0.0771:0.0:0.9229:0.0|0.0771:0.0:0.9229:0.0|0.0771:0.0:0.9229:0.0	.|.|.	.|143;118;184;143;244;612;650;633|.	.|B7Z863;C9JPE6;Q14BN4-5;Q14BN4-8;Q14BN4-4;Q14BN4-2;Q14BN4;Q14BN4-3|.	.|.;.;.;.;.;.;SLMAP_HUMAN;.|.	D|Q|T	233|633;633;143;650;612;244;118;184;143|257;187	.|ENSP00000295951:E633Q;ENSP00000295952:E633Q;ENSP00000412342:E143Q;ENSP00000398661:E650Q;ENSP00000412945:E612Q;ENSP00000388978:E118Q;ENSP00000419543:E184Q;ENSP00000418218:E143Q|ENSP00000389978:R257T;ENSP00000391886:R187T	.|ENSP00000295951:E633Q|ENSP00000389978:R257T	E|E|R	+|+|+	3|1|2	2|0|0	SLMAP|SLMAP|SLMAP	57873447|57873447|57873447	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.971000|0.971000|0.971000	0.66376|0.66376|0.66376	3.954000|3.954000|3.954000	0.56708|0.56708|0.56708	2.582000|2.582000|2.582000	0.87167|0.87167|0.87167	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAG|GAA|AGA	SLMAP	-	NULL	ENSG00000163681		0.373	SLMAP-013	KNOWN	basic	protein_coding	SLMAP	HGNC	protein_coding	OTTHUMT00000351584.1	46	0.00	0	G	NM_007159		57898407	57898407	+1	no_errors	ENST00000428312	ensembl	human	known	69_37n	missense	42	14.29	7	SNP	1.000	C
SMAD4	4089	genome.wustl.edu	37	18	48575200	48575200	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr18:48575200C>T	ENST00000342988.3	+	3	932	c.394C>T	c.(394-396)Cac>Tac	p.H132Y	SMAD4_ENST00000588745.1_Missense_Mutation_p.H132Y|SMAD4_ENST00000452201.2_Missense_Mutation_p.H132Y|RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000398417.2_Missense_Mutation_p.H132Y	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	132	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(4)|p.H132N(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GAATCCATATCACTACGAACG	0.353																																						dbGAP											41	Whole gene deletion(36)|Unknown(4)|Substitution - Missense(1)	pancreas(26)|large_intestine(3)|stomach(3)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|biliary_tract(1)|oesophagus(1)|NS(1)											141.0	126.0	131.0					18																	48575200		2203	4300	6503	-	-	-	SO:0001583	missense	0			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.394C>T	18.37:g.48575200C>T	ENSP00000341551:p.His132Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K405	Missense_Mutation	SNP	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.H132Y	ENST00000342988.3	37	c.394	CCDS11950.1	18	.	.	.	.	.	.	.	.	.	.	C	28.9	4.958835	0.92726	.	.	ENSG00000141646	ENST00000452201;ENST00000342988;ENST00000544926;ENST00000398417	D;D;D	0.93547	-3.24;-3.24;-3.24	5.48	5.48	0.80851	MAD homology, MH1 (3);MAD homology 1, Dwarfin-type (2);	0.000000	0.85682	D	0.000000	D	0.97845	0.9292	H	0.95079	3.62	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98956	1.0796	10	0.87932	D	0	.	18.1041	0.89515	0.0:1.0:0.0:0.0	.	132	Q13485	SMAD4_HUMAN	Y	132	ENSP00000409551:H132Y;ENSP00000341551:H132Y;ENSP00000381452:H132Y	ENSP00000341551:H132Y	H	+	1	0	SMAD4	46829198	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.793000	0.85851	2.540000	0.85666	0.585000	0.79938	CAC	SMAD4	-	pfam_MAD_homology1_Dwarfin-type,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_MAD_homology_MH1	ENSG00000141646		0.353	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAD4	HGNC	protein_coding	OTTHUMT00000255993.3	101	0.00	0	C	NM_005359		48575200	48575200	+1	no_errors	ENST00000342988	ensembl	human	known	69_37n	missense	59	26.25	21	SNP	1.000	T
SMARCAD1	56916	genome.wustl.edu	37	4	95206186	95206186	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:95206186G>A	ENST00000354268.4	+	23	3058	c.2985G>A	c.(2983-2985)ttG>ttA	p.L995L	SMARCAD1_ENST00000509418.1_Silent_p.L565L|SMARCAD1_ENST00000457823.2_Silent_p.L997L			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	995	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		AACAGAAATTGAAACTAGAAC	0.313																																						dbGAP											0													113.0	119.0	117.0					4																	95206186		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.2985G>A	4.37:g.95206186G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Silent	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_UBA-like,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_CUE,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L997	ENST00000354268.4	37	c.2991	CCDS3639.1	4																																																																																			SMARCAD1	-	pfscan_Helicase_C	ENSG00000163104		0.313	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMARCAD1	HGNC	protein_coding	OTTHUMT00000253583.1	114	0.00	0	G	NM_020159		95206186	95206186	+1	no_errors	ENST00000359052	ensembl	human	known	69_37n	silent	81	10.99	10	SNP	1.000	A
SMARCA5	8467	genome.wustl.edu	37	4	144465014	144465014	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:144465014G>A	ENST00000283131.3	+	16	2523	c.2061G>A	c.(2059-2061)gaG>gaA	p.E687E		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	687					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					AGACTGCAGAGATGAATGAAA	0.363																																						dbGAP											0													116.0	124.0	122.0					4																	144465014		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB010882	CCDS3761.1	4q31.1-q31.2	2011-04-20			ENSG00000153147	ENSG00000153147			11101	protein-coding gene	gene with protein product		603375				9730600	Standard	NM_003601		Approved	hSNF2H, hISWI, ISWI	uc003ijg.3	O60264	OTTHUMG00000161474	ENST00000283131.3:c.2061G>A	4.37:g.144465014G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_SNF2_N,pfam_SLIDE,pfam_ATPase_nucl-remodel_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Homeodomain-like,superfamily_ATPase_nucl-remodel_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E687	ENST00000283131.3	37	c.2061	CCDS3761.1	4																																																																																			SMARCA5	-	NULL	ENSG00000153147		0.363	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCA5	HGNC	protein_coding	OTTHUMT00000365077.3	93	0.00	0	G			144465014	144465014	+1	no_errors	ENST00000283131	ensembl	human	known	69_37n	silent	53	22.06	15	SNP	1.000	A
SMARCAL1	50485	genome.wustl.edu	37	2	217347508	217347508	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:217347508G>C	ENST00000357276.4	+	18	3003	c.2673G>C	c.(2671-2673)gaG>gaC	p.E891D	AC098820.4_ENST00000414135.1_RNA|AC098820.3_ENST00000453157.1_RNA|SMARCAL1_ENST00000358207.5_Missense_Mutation_p.E891D	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	891					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		AGTCCTTTGAGAAAGAAGGAA	0.468									Schimke Immuno-Osseous Dysplasia																													dbGAP											0													138.0	148.0	145.0					2																	217347508		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	SIOD	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"""HepA-related protein"", ""ATP-driven annealing helicase"""	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.2673G>C	2.37:g.217347508G>C	ENSP00000349823:p.Glu891Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Missense_Mutation	SNP	pfam_HARP,pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E891D	ENST00000357276.4	37	c.2673	CCDS2403.1	2	.	.	.	.	.	.	.	.	.	.	G	10.01	1.234331	0.22626	.	.	ENSG00000138375	ENST00000357276;ENST00000358207;ENST00000392128	D;D;T	0.86164	-2.08;-2.08;-0.95	4.54	2.7	0.31948	.	0.369600	0.27640	N	0.018479	T	0.80433	0.4622	L	0.56396	1.775	0.32899	D	0.512856	B	0.22480	0.07	B	0.14023	0.01	T	0.75280	-0.3373	10	0.41790	T	0.15	-26.538	3.2991	0.06976	0.301:0.0:0.5006:0.1985	.	891	Q9NZC9	SMAL1_HUMAN	D	891;891;733	ENSP00000349823:E891D;ENSP00000350940:E891D;ENSP00000375974:E733D	ENSP00000349823:E891D	E	+	3	2	SMARCAL1	217055753	1.000000	0.71417	0.981000	0.43875	0.455000	0.32408	0.507000	0.22675	0.613000	0.30089	0.563000	0.77884	GAG	SMARCAL1	-	NULL	ENSG00000138375		0.468	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCAL1	HGNC	protein_coding	OTTHUMT00000256671.2	73	0.00	0	G			217347508	217347508	+1	no_errors	ENST00000357276	ensembl	human	known	69_37n	missense	58	15.94	11	SNP	0.996	C
SMARCD1	6602	genome.wustl.edu	37	12	50484356	50484356	+	Silent	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:50484356C>A	ENST00000394963.4	+	9	1514	c.1116C>A	c.(1114-1116)atC>atA	p.I372I	SMARCD1_ENST00000548573.1_Silent_p.I170I|SMARCD1_ENST00000381513.4_Silent_p.I372I	NM_003076.4	NP_003067.3			SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1											NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	18						AACCTATCATCATTAATCATG	0.493																																						dbGAP											0													111.0	101.0	104.0					12																	50484356		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U66617	CCDS8797.2, CCDS8798.2	12q13-q14	2008-08-05			ENSG00000066117	ENSG00000066117			11106	protein-coding gene	gene with protein product		601735				8804307, 9693044, 12917342	Standard	NM_003076		Approved	BAF60A, Rsc6p, CRACD1	uc001rvx.4	Q96GM5	OTTHUMG00000150194	ENST00000394963.4:c.1116C>A	12.37:g.50484356C>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,smart_SWIB_domain	p.I372	ENST00000394963.4	37	c.1116	CCDS8797.2	12																																																																																			SMARCD1	-	superfamily_SWIB_MDM2_domain	ENSG00000066117		0.493	SMARCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCD1	HGNC	protein_coding	OTTHUMT00000316759.2	95	0.00	0	C	NM_003076		50484356	50484356	+1	no_errors	ENST00000394963	ensembl	human	known	69_37n	silent	86	19.63	21	SNP	1.000	A
SMC2	10592	genome.wustl.edu	37	9	106887204	106887204	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:106887204G>C	ENST00000286398.7	+	18	2557	c.2269G>C	c.(2269-2271)Gag>Cag	p.E757Q	SMC2_ENST00000374787.3_Missense_Mutation_p.E757Q|SMC2_ENST00000303219.8_Missense_Mutation_p.E757Q|SMC2_ENST00000374793.3_Missense_Mutation_p.E757Q	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	757					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						GGAAAGTGAGGAGACTTTGAA	0.318																																						dbGAP											0													42.0	43.0	43.0					9																	106887204		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"""Structural maintenance of chromosomes proteins"""	14011	protein-coding gene	gene with protein product		605576	"""SMC2 (structural maintenance of chromosomes 2, yeast)-like 1"", ""SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"""	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.2269G>C	9.37:g.106887204G>C	ENSP00000286398:p.Glu757Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IEE0|Q9P1P2	Missense_Mutation	SNP	pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge	p.E757Q	ENST00000286398.7	37	c.2269	CCDS35086.1	9	.	.	.	.	.	.	.	.	.	.	G	12.17	1.856858	0.32791	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000374787	T;T;T;T	0.78595	-1.19;-1.19;-1.15;-1.19	5.1	4.21	0.49690	.	0.204766	0.50627	D	0.000103	T	0.67088	0.2856	L	0.33624	1.015	0.38177	D	0.939507	B	0.23990	0.095	B	0.28305	0.088	T	0.63386	-0.6649	10	0.17369	T	0.5	-18.6726	12.8545	0.57878	0.0798:0.0:0.9202:0.0	.	757	O95347	SMC2_HUMAN	Q	757	ENSP00000286398:E757Q;ENSP00000363925:E757Q;ENSP00000306152:E757Q;ENSP00000363919:E757Q	ENSP00000286398:E757Q	E	+	1	0	SMC2	105927025	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	5.605000	0.67634	1.524000	0.49035	0.591000	0.81541	GAG	SMC2	-	NULL	ENSG00000136824		0.318	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC2	HGNC	protein_coding	OTTHUMT00000053470.1	49	0.00	0	G			106887204	106887204	+1	no_errors	ENST00000286398	ensembl	human	known	69_37n	missense	50	13.79	8	SNP	1.000	C
SMC4	10051	genome.wustl.edu	37	3	160132288	160132288	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:160132288C>T	ENST00000357388.3	+	9	1706	c.1255C>T	c.(1255-1257)Caa>Taa	p.Q419*	RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000344722.5_Nonsense_Mutation_p.Q419*|SMC4_ENST00000360111.2_Nonsense_Mutation_p.Q419*|SMC4_ENST00000462787.1_Nonsense_Mutation_p.Q419*|SMC4_ENST00000469762.1_Nonsense_Mutation_p.Q394*	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	419					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GAAACAACTTCAAAAAGATAA	0.318																																						dbGAP											0													32.0	32.0	32.0					3																	160132288		2203	4296	6499	-	-	-	SO:0001587	stop_gained	0			AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"""Structural maintenance of chromosomes proteins"""	14013	protein-coding gene	gene with protein product		605575	"""SMC4 (structural maintenance of chromosomes 4, yeast)-like 1"", ""SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"""	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.1255C>T	3.37:g.160132288C>T	ENSP00000349961:p.Gln419*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Nonsense_Mutation	SNP	pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge	p.Q419*	ENST00000357388.3	37	c.1255	CCDS3189.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	7.118247|7.118247	0.98074|0.98074	.|.	.|.	ENSG00000113810|ENSG00000113810	ENST00000357388;ENST00000360111;ENST00000469762;ENST00000489573;ENST00000462787;ENST00000344722;ENST00000545277|ENST00000392788	.|.	.|.	.|.	5.68|5.68	4.79|4.79	0.61399|0.61399	.|.	0.109070|.	0.64402|.	D|.	0.000007|.	.|T	.|0.28632	.|0.0709	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.27262	.|-1.0079	.|4	0.10377|0.02654	T|T	0.69|1	-7.1064|-7.1064	12.2068|12.2068	0.54356|0.54356	0.1351:0.735:0.1299:0.0|0.1351:0.735:0.1299:0.0	.|.	.|.	.|.	.|.	X|L	419;419;394;419;419;419;13|418	.|.	ENSP00000341382:Q419X|ENSP00000376538:S418L	Q|S	+|+	1|2	0|0	SMC4|SMC4	161614982|161614982	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.907000|0.907000	0.53573|0.53573	1.817000|1.817000	0.39002|0.39002	1.371000|1.371000	0.46172|0.46172	0.650000|0.650000	0.86243|0.86243	CAA|TCA	SMC4	-	pfam_RecF/RecN/SMC	ENSG00000113810		0.318	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC4	HGNC	protein_coding	OTTHUMT00000352862.1	45	0.00	0	C			160132288	160132288	+1	no_errors	ENST00000344722	ensembl	human	known	69_37n	nonsense	32	25.58	11	SNP	0.994	T
SMEK2	57223	genome.wustl.edu	37	2	55791461	55791461	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:55791461C>T	ENST00000345102.5	-	15	2549	c.2248G>A	c.(2248-2250)Gag>Aag	p.E750K	SNORA12_ENST00000390873.1_RNA|SMEK2_ENST00000407823.3_Missense_Mutation_p.E718K|SMEK2_ENST00000272313.5_Missense_Mutation_p.E665K	NM_001122964.1	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	750					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)			TTTTTAGTCTCCATAAACTTT	0.328																																						dbGAP											0													103.0	100.0	101.0					2																	55791461		2202	4299	6501	-	-	-	SO:0001583	missense	0			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.2248G>A	2.37:g.55791461C>T	ENSP00000339769:p.Glu750Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0	Missense_Mutation	SNP	pfam_DUF625,superfamily_ARM-type_fold	p.E665K	ENST00000345102.5	37	c.1993	CCDS46289.1	2	.	.	.	.	.	.	.	.	.	.	C	16.72	3.201909	0.58234	.	.	ENSG00000138041	ENST00000272313;ENST00000407823;ENST00000345102	T;T;T	0.49432	0.78;0.82;1.38	5.98	5.11	0.69529	.	0.046483	0.85682	D	0.000000	T	0.43299	0.1241	L	0.39245	1.2	0.80722	D	1	B;B;B;B;B	0.30455	0.28;0.002;0.001;0.001;0.004	B;B;B;B;B	0.37346	0.247;0.007;0.011;0.007;0.011	T	0.22906	-1.0203	10	0.15066	T	0.55	-0.7739	15.219	0.73296	0.0:0.9327:0.0:0.0673	.	718;750;665;750;177	Q5MIZ7-2;Q5MIZ7;Q5MIZ7-3;B4DKA9;Q5MIZ7-5	.;P4R3B_HUMAN;.;.;.	K	665;718;750	ENSP00000272313:E665K;ENSP00000385912:E718K;ENSP00000339769:E750K	ENSP00000272313:E665K	E	-	1	0	SMEK2	55644965	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.776000	0.85560	1.538000	0.49270	0.655000	0.94253	GAG	SMEK2	-	NULL	ENSG00000138041		0.328	SMEK2-002	NOVEL	basic|CCDS	protein_coding	SMEK2	HGNC	protein_coding	OTTHUMT00000251483.1	165	0.00	0	C	NM_020463		55791461	55791461	-1	no_errors	ENST00000272313	ensembl	human	known	69_37n	missense	119	38.97	76	SNP	1.000	T
SMEK2	57223	genome.wustl.edu	37	2	55842596	55842596	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:55842596C>T	ENST00000345102.5	-	2	490	c.189G>A	c.(187-189)caG>caA	p.Q63Q	RP11-554J4.1_ENST00000608113.1_RNA|SMEK2_ENST00000407823.3_Silent_p.Q63Q|SMEK2_ENST00000477749.1_5'UTR|SMEK2_ENST00000272313.5_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																																						dbGAP											0													93.0	97.0	95.0					2																	55842596		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0			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 GAIIx	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	ENSG00000138041		0.318	SMEK2-002	NOVEL	basic|CCDS	protein_coding	SMEK2	HGNC	protein_coding	OTTHUMT00000251483.1	133	0.00	0	C	NM_020463		55842596	55842596	-1	no_errors	ENST00000272313	ensembl	human	known	69_37n	silent	122	20.78	32	SNP	1.000	T
SMG1	23049	genome.wustl.edu	37	16	18823420	18823420	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:18823420G>C	ENST00000446231.2	-	61	11063	c.10651C>G	c.(10651-10653)Cag>Gag	p.Q3551E	RP11-1035H13.2_ENST00000569096.1_RNA|SMG1_ENST00000389467.3_Missense_Mutation_p.Q3552E			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3551					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						ACATCAGGCTGAGTCTTCTGG	0.483																																						dbGAP											0													108.0	98.0	101.0					16																	18823420		1968	4166	6134	-	-	-	SO:0001583	missense	0			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.10651C>G	16.37:g.18823420G>C	ENSP00000402515:p.Gln3551Glu	Somatic		WXS	Illumina GAIIx	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.Q3552E	ENST00000446231.2	37	c.10654	CCDS45430.1	16	.	.	.	.	.	.	.	.	.	.	G	16.43	3.122297	0.56613	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01059	5.39;5.39	5.69	5.69	0.88448	.	0.000000	0.64402	D	0.000008	T	0.01661	0.0053	L	0.28274	0.84	0.45806	D	0.998688	P	0.42409	0.779	B	0.41236	0.351	T	0.76000	-0.3119	10	0.32370	T	0.25	.	20.181	0.98201	0.0:0.0:1.0:0.0	.	3551	Q96Q15	SMG1_HUMAN	E	3551;3552	ENSP00000402515:Q3551E;ENSP00000374118:Q3552E	ENSP00000374118:Q3552E	Q	-	1	0	SMG1	18730921	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.417000	0.97391	2.840000	0.97914	0.655000	0.94253	CAG	SMG1	-	NULL	ENSG00000157106		0.483	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMG1	HGNC	protein_coding	OTTHUMT00000391817.1	114	0.00	0	G	NM_015092		18823420	18823420	-1	no_errors	ENST00000389467	ensembl	human	known	69_37n	missense	88	25.42	30	SNP	1.000	C
SMG1	23049	genome.wustl.edu	37	16	18845567	18845567	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:18845567C>T	ENST00000446231.2	-	50	8936	c.8524G>A	c.(8524-8526)Gag>Aag	p.E2842K	SMG1_ENST00000389467.3_Missense_Mutation_p.E2842K			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2842					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						TGAACTGTCTCAGACGCTTCC	0.428																																						dbGAP											0													49.0	47.0	47.0					16																	18845567		1913	4140	6053	-	-	-	SO:0001583	missense	0			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.8524G>A	16.37:g.18845567C>T	ENSP00000402515:p.Glu2842Lys	Somatic		WXS	Illumina GAIIx	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.E2842K	ENST00000446231.2	37	c.8524	CCDS45430.1	16	.	.	.	.	.	.	.	.	.	.	C	12.33	1.904665	0.33628	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01043	5.41;5.41	5.44	5.44	0.79542	Armadillo-type fold (1);	0.000000	0.64402	D	0.000004	T	0.00784	0.0026	N	0.02539	-0.55	0.32427	N	0.548558	B	0.22003	0.063	B	0.17098	0.017	T	0.56019	-0.8048	10	0.18276	T	0.48	.	17.8161	0.88634	0.0:1.0:0.0:0.0	.	2842	Q96Q15	SMG1_HUMAN	K	2842	ENSP00000402515:E2842K;ENSP00000374118:E2842K	ENSP00000374118:E2842K	E	-	1	0	SMG1	18753068	1.000000	0.71417	0.959000	0.39883	0.975000	0.68041	5.996000	0.70639	2.720000	0.93068	0.650000	0.86243	GAG	SMG1	-	superfamily_ARM-type_fold	ENSG00000157106		0.428	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMG1	HGNC	protein_coding	OTTHUMT00000391817.1	90	0.00	0	C	NM_015092		18845567	18845567	-1	no_errors	ENST00000389467	ensembl	human	known	69_37n	missense	29	54.69	35	SNP	0.995	T
SMG1	23049	genome.wustl.edu	37	16	18887491	18887491	+	Silent	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:18887491G>T	ENST00000446231.2	-	13	2257	c.1845C>A	c.(1843-1845)ctC>ctA	p.L615L	SMG1_ENST00000565224.1_Silent_p.L589L|SMG1_ENST00000389467.3_Silent_p.L615L			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	615	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						TCAGGGCACTGAGGTCAAATA	0.353																																						dbGAP											0													82.0	79.0	80.0					16																	18887491		1814	4072	5886	-	-	-	SO:0001819	synonymous_variant	0			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.1845C>A	16.37:g.18887491G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.Q533K	ENST00000446231.2	37	c.1597	CCDS45430.1	16																																																																																			SMG1	-	NULL	ENSG00000157106		0.353	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMG1	HGNC	protein_coding	OTTHUMT00000391817.1	99	0.00	0	G	NM_015092		18887491	18887491	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000561947	ensembl	human	novel	69_37n	missense	79	30.70	35	SNP	1.000	T
SMG5	23381	genome.wustl.edu	37	1	156247778	156247778	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:156247778C>G	ENST00000361813.5	-	3	379	c.235G>C	c.(235-237)Gag>Cag	p.E79Q	SMG5_ENST00000368267.5_Missense_Mutation_p.E79Q	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	79					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)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					AGCAGCTCCTCAGCCTTTCTC	0.502																																						dbGAP											0													151.0	145.0	147.0					1																	156247778		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB029012	CCDS1137.1	1q21	2013-07-02	2013-07-02		ENSG00000198952	ENSG00000198952			24644	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog B (S. cerevisiae)"""	610962	"""smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)"""			12676087, 12699629	Standard	NM_015327		Approved	KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B	uc001foc.4	Q9UPR3	OTTHUMG00000017491	ENST00000361813.5:c.235G>C	1.37:g.156247778C>G	ENSP00000355261:p.Glu79Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	Missense_Mutation	SNP	pfam_EST1,smart_PINc_nuc-bd	p.E79Q	ENST00000361813.5	37	c.235	CCDS1137.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.208529	0.95069	.	.	ENSG00000198952	ENST00000361813;ENST00000368267	T;T	0.22134	1.97;1.97	5.46	5.46	0.80206	Telomerase activating protein Est1 (1);	0.000000	0.85682	D	0.000000	T	0.43255	0.1239	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.34329	-0.9833	10	0.72032	D	0.01	-36.5362	18.0678	0.89396	0.0:1.0:0.0:0.0	.	79	Q9UPR3	SMG5_HUMAN	Q	79	ENSP00000355261:E79Q;ENSP00000357250:E79Q	ENSP00000355261:E79Q	E	-	1	0	SMG5	154514402	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.430000	0.80321	2.840000	0.97914	0.655000	0.94253	GAG	SMG5	-	pfam_EST1	ENSG00000198952		0.502	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG5	HGNC	protein_coding	OTTHUMT00000046308.1	120	0.00	0	C	NM_015327		156247778	156247778	-1	no_errors	ENST00000361813	ensembl	human	known	69_37n	missense	117	20.41	30	SNP	1.000	G
SMG6	23293	genome.wustl.edu	37	17	1968852	1968852	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:1968852C>G	ENST00000263073.6	-	17	4007	c.3957G>C	c.(3955-3957)gaG>gaC	p.E1319D	SMG6_ENST00000354901.4_Missense_Mutation_p.E411D|SMG6_ENST00000536871.2_Missense_Mutation_p.E411D|SMG6_ENST00000544865.1_Missense_Mutation_p.E1288D|SMG6_ENST00000573166.1_5'UTR	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	1319	PINc.				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)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						AGTCCCGACTCTCGAATCGCT	0.627																																					Melanoma(59;28 1088 11621 25887 46638 50814)	dbGAP											0													58.0	55.0	56.0					17																	1968852		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.3957G>C	17.37:g.1968852C>G	ENSP00000263073:p.Glu1319Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z874|O94837|Q86VH6|Q9UF60	Missense_Mutation	SNP	pfam_EST1,smart_PINc_nuc-bd	p.E1319D	ENST00000263073.6	37	c.3957	CCDS11016.1	17	.	.	.	.	.	.	.	.	.	.	C	17.61	3.433061	0.62844	.	.	ENSG00000070366	ENST00000263073;ENST00000544865;ENST00000354901;ENST00000536871	T;T;T	0.18502	2.97;2.97;2.21	5.56	5.56	0.83823	Nucleotide binding protein, PINc (1);	0.000000	0.85682	D	0.000000	T	0.30293	0.0760	N	0.25332	0.735	0.80722	D	1	D	0.60160	0.987	D	0.72338	0.977	T	0.01951	-1.1241	10	0.26408	T	0.33	-10.393	19.5351	0.95247	0.0:1.0:0.0:0.0	.	1319	Q86US8	EST1A_HUMAN	D	1319;1288;230;411	ENSP00000263073:E1319D;ENSP00000443920:E1288D;ENSP00000440283:E411D	ENSP00000263073:E1319D	E	-	3	2	SMG6	1915602	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.584000	0.60971	2.640000	0.89533	0.655000	0.94253	GAG	SMG6	-	smart_PINc_nuc-bd	ENSG00000070366		0.627	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG6	HGNC	protein_coding	OTTHUMT00000437826.3	40	0.00	0	C			1968852	1968852	-1	no_errors	ENST00000263073	ensembl	human	known	69_37n	missense	27	18.18	6	SNP	1.000	G
SMG7	9887	genome.wustl.edu	37	1	183510225	183510225	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:183510225G>T	ENST00000347615.2	+	13	1521	c.1402G>T	c.(1402-1404)Gat>Tat	p.D468Y	SMG7_ENST00000367537.3_Missense_Mutation_p.D497Y|SMG7_ENST00000507469.1_Missense_Mutation_p.D468Y|SMG7_ENST00000515829.2_Missense_Mutation_p.D468Y|SMG7_ENST00000456731.2_Missense_Mutation_p.D426Y|SMG7_ENST00000508461.1_Missense_Mutation_p.D426Y	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	468					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)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						ATGGATTGCTGATAATCAGCC	0.478																																						dbGAP											0													185.0	175.0	178.0					1																	183510225		2203	4300	6503	-	-	-	SO:0001583	missense	0			D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.1402G>T	1.37:g.183510225G>T	ENSP00000340766:p.Asp468Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Missense_Mutation	SNP	pfam_EST1	p.D468Y	ENST00000347615.2	37	c.1402	CCDS1355.1	1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.506492	0.85282	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000419169;ENST00000347615;ENST00000507469;ENST00000515829	T;T;T;T;T;T;T	0.19105	2.17;2.17;2.17;2.17;2.17;2.17;2.17	5.57	5.57	0.84162	.	0.095871	0.64402	D	0.000001	T	0.27663	0.0680	N	0.19112	0.55	0.80722	D	1	D;D;D;D;D;D	0.62365	0.976;0.976;0.976;0.986;0.976;0.991	P;P;P;P;P;P	0.54100	0.556;0.556;0.556;0.742;0.556;0.687	T	0.03534	-1.1027	10	0.72032	D	0.01	-12.9196	19.563	0.95380	0.0:0.0:1.0:0.0	.	426;497;426;468;468;468	E9PCI0;E9PD50;E9PCE5;Q92540-2;Q92540;E9PEH2	.;.;.;.;SMG7_HUMAN;.	Y	426;497;426;426;468;468;468	ENSP00000407629:D426Y;ENSP00000356507:D497Y;ENSP00000426915:D426Y;ENSP00000388390:D426Y;ENSP00000340766:D468Y;ENSP00000425133:D468Y;ENSP00000421358:D468Y	ENSP00000340766:D468Y	D	+	1	0	SMG7	181776848	1.000000	0.71417	0.978000	0.43139	0.991000	0.79684	8.788000	0.91834	2.619000	0.88677	0.650000	0.86243	GAT	SMG7	-	NULL	ENSG00000116698		0.478	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SMG7	HGNC	protein_coding	OTTHUMT00000085432.1	74	0.00	0	G	NM_014837		183510225	183510225	+1	no_errors	ENST00000507469	ensembl	human	known	69_37n	missense	92	18.58	21	SNP	1.000	T
SMG7	9887	genome.wustl.edu	37	1	183515224	183515224	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:183515224G>C	ENST00000347615.2	+	17	2613	c.2494G>C	c.(2494-2496)Gag>Cag	p.E832Q	SMG7_ENST00000367537.3_Missense_Mutation_p.E815Q|SMG7_ENST00000507469.1_Missense_Mutation_p.E786Q|SMG7_ENST00000515829.2_Missense_Mutation_p.E786Q|SMG7_ENST00000456731.2_Missense_Mutation_p.E744Q|SMG7_ENST00000508461.1_Missense_Mutation_p.E790Q	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	832	Gln/Pro-rich.				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)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						AAAACTGTTTGAGCCGTCATT	0.463																																						dbGAP											0													81.0	87.0	85.0					1																	183515224		2203	4300	6503	-	-	-	SO:0001583	missense	0			D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.2494G>C	1.37:g.183515224G>C	ENSP00000340766:p.Glu832Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Missense_Mutation	SNP	pfam_EST1	p.E786Q	ENST00000347615.2	37	c.2356	CCDS1355.1	1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.618545	0.87460	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000419169;ENST00000347615;ENST00000507469;ENST00000515829	T;T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69;0.69	5.62	5.62	0.85841	.	0.365802	0.31358	N	0.007792	T	0.56659	0.2000	L	0.29908	0.895	0.58432	D	0.999991	D;D;D;D;D;D	0.69078	0.997;0.993;0.997;0.996;0.997;0.993	D;D;D;D;D;D	0.78314	0.986;0.979;0.986;0.991;0.986;0.979	T	0.45056	-0.9287	10	0.12430	T	0.62	-14.276	19.6614	0.95875	0.0:0.0:1.0:0.0	.	790;815;744;786;832;786	E9PCI0;E9PD50;E9PCE5;Q92540-2;Q92540;E9PEH2	.;.;.;.;SMG7_HUMAN;.	Q	744;815;790;744;832;786;786	ENSP00000407629:E744Q;ENSP00000356507:E815Q;ENSP00000426915:E790Q;ENSP00000388390:E744Q;ENSP00000340766:E832Q;ENSP00000425133:E786Q;ENSP00000421358:E786Q	ENSP00000340766:E832Q	E	+	1	0	SMG7	181781847	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.948000	0.75965	2.633000	0.89246	0.655000	0.94253	GAG	SMG7	-	NULL	ENSG00000116698		0.463	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SMG7	HGNC	protein_coding	OTTHUMT00000085432.1	79	0.00	0	G	NM_014837		183515224	183515224	+1	no_errors	ENST00000507469	ensembl	human	known	69_37n	missense	87	30.40	38	SNP	1.000	C
SMG8	55181	genome.wustl.edu	37	17	57288711	57288711	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:57288711G>A	ENST00000543872.2	+	2	1563	c.1299G>A	c.(1297-1299)agG>agA	p.R433R	SMG8_ENST00000578922.1_Silent_p.R433R|SMG8_ENST00000580498.1_Intron|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000300917.5_Silent_p.R433R			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	433					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						GTGTGGGCAGGAACCCACAGC	0.468																																						dbGAP											0													72.0	69.0	70.0					17																	57288711		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			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.1299G>A	17.37:g.57288711G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Silent	SNP	pfam_Smg8/Smg9	p.R433	ENST00000543872.2	37	c.1299	CCDS11615.1	17																																																																																			SMG8	-	pfam_Smg8/Smg9	ENSG00000167447		0.468	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG8	HGNC	protein_coding	OTTHUMT00000445960.2	55	0.00	0	G	NM_018149		57288711	57288711	+1	no_errors	ENST00000300917	ensembl	human	known	69_37n	silent	141	11.32	18	SNP	0.997	A
SMPD4	55627	genome.wustl.edu	37	2	130910712	130910712	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:130910712C>G	ENST00000409031.1	-	19	3323	c.2175G>C	c.(2173-2175)gaG>gaC	p.E725D	SMPD4_ENST00000443958.2_Missense_Mutation_p.E389D|SMPD4_ENST00000431183.2_Missense_Mutation_p.E623D|SMPD4_ENST00000473720.1_5'Flank|SMPD4_ENST00000339679.7_Missense_Mutation_p.E583D|SMPD4_ENST00000452225.2_Missense_Mutation_p.E466D|SMPD4_ENST00000426662.2_Missense_Mutation_p.E361D|SMPD4_ENST00000453750.1_Missense_Mutation_p.E474D|SMPD4_ENST00000351288.6_Missense_Mutation_p.E696D	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	686					cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glycerophospholipid catabolic process (GO:0046475)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)|sphingomyelin phosphodiesterase D activity (GO:0050290)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	CCCCCTGGTACTCAATTTCAA	0.557																																						dbGAP											0													57.0	65.0	62.0					2																	130910712		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF052134	CCDS2156.2, CCDS42751.1, CCDS54398.1	2q21.1	2009-11-06			ENSG00000136699	ENSG00000136699			32949	protein-coding gene	gene with protein product		610457				16517606	Standard	NM_001171083		Approved	FLJ20297, FLJ20756, nSMase-3, KIAA1418, NSMASE3, NET13	uc002tqr.2	Q9NXE4	OTTHUMG00000131624	ENST00000409031.1:c.2175G>C	2.37:g.130910712C>G	ENSP00000386531:p.Glu725Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DM23|B4DQ31|B4DRB8|B4DWK7|B4E0L6|E7ESA2|E9PCE6|Q6FI76|Q6P1P7|Q6ZT43|Q9H0M2|Q9NW20|Q9NWL2|Q9P2C9	Missense_Mutation	SNP	NULL	p.E725D	ENST00000409031.1	37	c.2175	CCDS42751.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	11.53|11.53	1.666902|1.666902	0.29604|0.29604	.|.	.|.	ENSG00000136699|ENSG00000136699	ENST00000351288;ENST00000409031;ENST00000431183;ENST00000453750;ENST00000443958;ENST00000339679;ENST00000452225;ENST00000426662|ENST00000439886	.|.	.|.	.|.	4.09|4.09	4.09|4.09	0.47781|0.47781	.|.	0.267481|.	0.36303|.	N|.	0.002668|.	T|T	0.67562|0.67562	0.2906|0.2906	M|M	0.70275|0.70275	2.135|2.135	0.33237|0.33237	D|D	0.556646|0.556646	P;P;P;P;P;P;P;P;P;D|.	0.53885|.	0.481;0.726;0.523;0.491;0.884;0.933;0.692;0.835;0.756;0.963|.	B;B;B;B;P;B;B;B;B;P|.	0.47645|.	0.275;0.291;0.19;0.19;0.457;0.275;0.39;0.295;0.275;0.553|.	T|T	0.76490|0.76490	-0.2940|-0.2940	9|5	0.14252|.	T|.	0.57|.	.|.	13.8586|13.8586	0.63545|0.63545	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	361;466;623;583;474;657;686;725;732;257|.	B4E0L6;B4DQ31;E7ESA2;B4E0T5;B4DM23;Q9NXE4-2;Q9NXE4;B1PBA3;Q9NXE4-4;Q9NXE4-5|.	.;.;.;.;.;.;NSMA3_HUMAN;.;.;.|.	D|T	696;725;623;474;389;583;466;361|600	.|.	ENSP00000339721:E583D|.	E|S	-|-	3|2	2|0	SMPD4|SMPD4	130627182|130627182	0.588000|0.588000	0.26799|0.26799	0.997000|0.997000	0.53966|0.53966	0.303000|0.303000	0.27691|0.27691	-0.157000|-0.157000	0.10085|0.10085	1.820000|1.820000	0.53075|0.53075	0.549000|0.549000	0.68633|0.68633	GAG|AGT	SMPD4	-	NULL	ENSG00000136699		0.557	SMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMPD4	HGNC	protein_coding	OTTHUMT00000254516.3	43	0.00	0	C	NM_017751		130910712	130910712	-1	no_errors	ENST00000409031	ensembl	human	known	69_37n	missense	58	21.62	16	SNP	1.000	G
SMPDL3A	10924	genome.wustl.edu	37	6	123130490	123130490	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:123130490G>A	ENST00000368440.4	+	8	1476	c.1299G>A	c.(1297-1299)atG>atA	p.M433I	SMPDL3A_ENST00000539041.1_Missense_Mutation_p.M302I	NM_006714.3	NP_006705.1	Q92484	ASM3A_HUMAN	sphingomyelin phosphodiesterase, acid-like 3A	433					sphingomyelin catabolic process (GO:0006685)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(226;0.236)		GTGCAATTATGAATCTTGATA	0.308																																						dbGAP											0													58.0	57.0	58.0					6																	123130490		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000184	CCDS5128.1, CCDS69190.1	6q22.32	2006-04-12			ENSG00000172594	ENSG00000172594			17389	protein-coding gene	gene with protein product	"""acid sphingomyelinase-like phosphodiesterase 3a"""	610728				12442002	Standard	XM_005266798		Approved	FLJ20177, ASM3A, ASML3a, yR36GH4.1	uc003pzg.3	Q92484	OTTHUMG00000015490	ENST00000368440.4:c.1299G>A	6.37:g.123130490G>A	ENSP00000357425:p.Met433Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z729|Q8WV13	Missense_Mutation	SNP	pfam_Metallo_PEstase_dom,pirsf_ASM-like_Pdiesterase_prd	p.M433I	ENST00000368440.4	37	c.1299	CCDS5128.1	6	.	.	.	.	.	.	.	.	.	.	G	13.19	2.162008	0.38217	.	.	ENSG00000172594	ENST00000368440;ENST00000539041	D;D	0.89196	-2.48;-2.48	5.91	5.91	0.95273	.	0.340297	0.35096	N	0.003455	T	0.72661	0.3488	L	0.43152	1.355	0.29511	N	0.854226	B	0.20887	0.049	B	0.16722	0.016	T	0.58165	-0.7684	10	0.23891	T	0.37	-17.066	7.7633	0.28965	0.1896:0.0:0.8104:0.0	.	433	Q92484	ASM3A_HUMAN	I	433;302	ENSP00000357425:M433I;ENSP00000442152:M302I	ENSP00000357425:M433I	M	+	3	0	SMPDL3A	123172189	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.239000	0.32719	2.809000	0.96659	0.555000	0.69702	ATG	SMPDL3A	-	pirsf_ASM-like_Pdiesterase_prd	ENSG00000172594		0.308	SMPDL3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMPDL3A	HGNC	protein_coding	OTTHUMT00000042039.1	41	0.00	0	G	NM_006714		123130490	123130490	+1	no_errors	ENST00000368440	ensembl	human	known	69_37n	missense	32	17.95	7	SNP	1.000	A
SMPDL3B	27293	genome.wustl.edu	37	1	28279862	28279862	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:28279862C>T	ENST00000373894.3	+	4	701	c.510C>T	c.(508-510)ttC>ttT	p.F170F	SMPDL3B_ENST00000373888.4_Silent_p.F170F|RP11-460I13.2_ENST00000448015.1_RNA|SMPDL3B_ENST00000549094.1_Intron	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN	sphingomyelin phosphodiesterase, acid-like 3B	170					sphingomyelin catabolic process (GO:0006685)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		TCGCTCTCTTCAAAAAAGGTA	0.433																																						dbGAP											0													80.0	74.0	76.0					1																	28279862		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Y08134	CCDS30655.1, CCDS30656.1	1p35.3	2008-02-05			ENSG00000130768	ENSG00000130768			21416	protein-coding gene	gene with protein product							Standard	NM_014474		Approved	ASML3B	uc001bpg.3	Q92485	OTTHUMG00000003910	ENST00000373894.3:c.510C>T	1.37:g.28279862C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZB35|Q5T0Z0|Q96CB7	Silent	SNP	pfam_Metallo_PEstase_dom,pirsf_ASM-like_Pdiesterase_prd	p.F170	ENST00000373894.3	37	c.510	CCDS30655.1	1																																																																																			SMPDL3B	-	pfam_Metallo_PEstase_dom,pirsf_ASM-like_Pdiesterase_prd	ENSG00000130768		0.433	SMPDL3B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMPDL3B	HGNC	protein_coding	OTTHUMT00000011170.1	69	0.00	0	C	NM_014474		28279862	28279862	+1	no_errors	ENST00000373894	ensembl	human	known	69_37n	silent	60	26.83	22	SNP	1.000	T
SMR3B	10879	genome.wustl.edu	37	4	71255434	71255434	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:71255434C>T	ENST00000304915.3	+	3	258	c.109C>T	c.(109-111)Cct>Tct	p.P37S	SMR3B_ENST00000504825.1_Missense_Mutation_p.P37S	NM_006685.3	NP_006676.1	P02814	SMR3B_HUMAN	submaxillary gland androgen regulated protein 3B	37	Pro-rich.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				large_intestine(2)|lung(3)|skin(2)	7		all_hematologic(202;0.196)				ACCGCTGGCTCCTCCTCAACC	0.532																																						dbGAP											0													94.0	95.0	95.0					4																	71255434		2203	4300	6503	-	-	-	SO:0001583	missense	0			D29833	CCDS3540.1	4q13.3	2008-02-27	2008-02-27	2005-02-07	ENSG00000171201	ENSG00000171201			17326	protein-coding gene	gene with protein product		611593	"""proline rich 3"", ""submaxillary gland androgen regulated protein 3 homolog B (mouse)"""	PROL3		7982889, 479131	Standard	NM_006685		Approved	P-B, PRL3		P02814	OTTHUMG00000129396	ENST00000304915.3:c.109C>T	4.37:g.71255434C>T	ENSP00000302400:p.Pro37Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZMG7|Q9UBN0|Q9UCT0	Missense_Mutation	SNP	NULL	p.P37S	ENST00000304915.3	37	c.109	CCDS3540.1	4	.	.	.	.	.	.	.	.	.	.	C	4.125	0.021502	0.08006	.	.	ENSG00000171201	ENST00000504825;ENST00000304915;ENST00000381030	T;T	0.33654	1.4;1.4	1.9	1.9	0.25705	.	.	.	.	.	T	0.44307	0.1287	.	.	.	0.09310	N	1	D	0.65815	0.995	P	0.54889	0.763	T	0.21895	-1.0232	8	0.87932	D	0	.	7.282	0.26316	0.0:1.0:0.0:0.0	.	37	P02814	SMR3B_HUMAN	S	37	ENSP00000423138:P37S;ENSP00000302400:P37S	ENSP00000302400:P37S	P	+	1	0	SMR3B	71290023	0.000000	0.05858	0.066000	0.19879	0.030000	0.12068	-0.293000	0.08320	1.377000	0.46286	0.205000	0.17691	CCT	SMR3B	-	NULL	ENSG00000171201		0.532	SMR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMR3B	HGNC	protein_coding	OTTHUMT00000251552.2	90	0.00	0	C	NM_006685		71255434	71255434	+1	no_errors	ENST00000304915	ensembl	human	known	69_37n	missense	82	20.39	21	SNP	0.072	T
SMS	6611	genome.wustl.edu	37	X	22010730	22010730	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:22010730C>T	ENST00000404933.2	+	10	1213	c.961C>T	c.(961-963)Ctg>Ttg	p.L321L	SMS_ENST00000415881.2_Silent_p.L225L|SMS_ENST00000379404.1_Silent_p.L268L	NM_004595.4	NP_004586.2	P52788	SPSY_HUMAN	spermine synthase	321	PABS. {ECO:0000255|PROSITE- ProRule:PRU00354}.				cellular nitrogen compound metabolic process (GO:0034641)|methionine metabolic process (GO:0006555)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermine biosynthetic process (GO:0006597)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	spermidine synthase activity (GO:0004766)|spermine synthase activity (GO:0016768)			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(2)	14					Spermine(DB00127)	CTGTGTCAATCTGACAGAAGC	0.448																																						dbGAP											0													106.0	83.0	90.0					X																	22010730		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AD001528	CCDS14203.1, CCDS59161.1	Xp22.1	2014-05-16			ENSG00000102172	ENSG00000102172			11123	protein-coding gene	gene with protein product		300105	"""Snyder-Robinson X-linked mental retardation syndrome"""	SRS		7546290, 9299240, 14508504	Standard	NM_004595		Approved	SPMSY, SpS, MRSR	uc004dag.4	P52788	OTTHUMG00000021239	ENST00000404933.2:c.961C>T	X.37:g.22010730C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHA7|A6NI34|B2R9M0|O00544|Q9UQS1	Silent	SNP	pfam_Spermidine/spermine_synthase,pfscan_Spermidine/spermine_synthase	p.L321	ENST00000404933.2	37	c.961	CCDS14203.1	X																																																																																			SMS	-	pfam_Spermidine/spermine_synthase,pfscan_Spermidine/spermine_synthase	ENSG00000102172		0.448	SMS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SMS	HGNC	protein_coding	OTTHUMT00000056032.1	174	0.00	0	C	NM_004595		22010730	22010730	+1	no_errors	ENST00000404933	ensembl	human	known	69_37n	silent	153	18.18	34	SNP	1.000	T
SMTN	6525	genome.wustl.edu	37	22	31485898	31485898	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:31485898G>A	ENST00000347557.2	+	7	903	c.685G>A	c.(685-687)Gag>Aag	p.E229K	SMTN_ENST00000358743.1_Missense_Mutation_p.E229K|SMTN_ENST00000333137.7_Missense_Mutation_p.E229K	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin	229	Pro-rich.				muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						CCTTACAGCTGAGGTTCCAGG	0.662																																						dbGAP											0													33.0	32.0	33.0					22																	31485898		2203	4298	6501	-	-	-	SO:0001583	missense	0			AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.685G>A	22.37:g.31485898G>A	ENSP00000328635:p.Glu229Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	Missense_Mutation	SNP	pfam_Smoothelin,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.E229K	ENST00000347557.2	37	c.685	CCDS13886.1	22	.	.	.	.	.	.	.	.	.	.	G	13.27	2.186538	0.38609	.	.	ENSG00000183963	ENST00000358743;ENST00000347557;ENST00000333137;ENST00000329852;ENST00000404496	T;T;T	0.67523	0.14;-0.27;-0.27	4.3	3.29	0.37713	.	0.000000	0.38436	N	0.001695	T	0.65790	0.2725	N	0.17082	0.46	0.80722	D	1	P;P;D;D;P;D	0.58268	0.956;0.633;0.982;0.982;0.633;0.974	D;B;D;D;B;D	0.70487	0.931;0.34;0.952;0.952;0.34;0.969	T	0.67914	-0.5547	10	0.56958	D	0.05	-27.9851	10.061	0.42275	0.0966:0.0:0.9034:0.0	.	285;283;221;229;229;229	E7ETT8;B4E229;B5MC56;E7EWD0;P53814;P53814-5	.;.;.;.;SMTN_HUMAN;.	K	229;229;229;229;221	ENSP00000351593:E229K;ENSP00000328635:E229K;ENSP00000329532:E229K	ENSP00000329393:E229K	E	+	1	0	SMTN	29815898	0.981000	0.34729	0.870000	0.34147	0.063000	0.16089	1.991000	0.40727	1.422000	0.47177	-0.251000	0.11542	GAG	SMTN	-	NULL	ENSG00000183963		0.662	SMTN-001	KNOWN	basic|CCDS	protein_coding	SMTN	HGNC	protein_coding	OTTHUMT00000321766.1	40	0.00	0	G	NM_134270		31485898	31485898	+1	no_errors	ENST00000347557	ensembl	human	known	69_37n	missense	54	16.92	11	SNP	0.967	A
SMTNL1	219537	genome.wustl.edu	37	11	57310508	57310508	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:57310508G>A	ENST00000399154.2	+	1	393	c.393G>A	c.(391-393)acG>acA	p.T131T	SMTNL1_ENST00000457912.1_Silent_p.T149T|SMTNL1_ENST00000527972.1_Silent_p.T131T			A8MU46	SMTL1_HUMAN	smoothelin-like 1	131	Glu-rich.				negative regulation of vasodilation (GO:0045908)|positive regulation of vasoconstriction (GO:0045907)	contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						AGGAGAGCACGCTGGCCTCTG	0.517																																						dbGAP											0													34.0	37.0	36.0					11																	57310508		2017	4176	6193	-	-	-	SO:0001819	synonymous_variant	0			BX116227		11q12.1	2006-02-02				ENSG00000214872			32394	protein-coding gene	gene with protein product	"""calponin homology-associated smooth muscle protein"""	613664				15327999	Standard	NM_001105565		Approved	CHASM	uc021qjh.1	A8MU46		ENST00000399154.2:c.393G>A	11.37:g.57310508G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.T149	ENST00000399154.2	37	c.447		11																																																																																			SMTNL1	-	NULL	ENSG00000214872		0.517	SMTNL1-201	KNOWN	basic|appris_candidate	protein_coding	SMTNL1	HGNC	protein_coding		48	0.00	0	G	XM_166203		57310508	57310508	+1	no_errors	ENST00000457912	ensembl	human	known	69_37n	silent	26	64.86	48	SNP	0.000	A
SMU1	55234	genome.wustl.edu	37	9	33057640	33057640	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:33057640C>T	ENST00000397149.3	-	7	873	c.823G>A	c.(823-825)Gat>Aat	p.D275N	SMU1_ENST00000536631.1_Missense_Mutation_p.D114N	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	275						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		ATTTCTGTATCTCTGCTGAAA	0.408																																						dbGAP											0													161.0	149.0	153.0					9																	33057640		2203	4297	6500	-	-	-	SO:0001583	missense	0			AK001667	CCDS6534.1	9p12	2013-01-10			ENSG00000122692	ENSG00000122692		"""WD repeat domain containing"""	18247	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 57"""					11438655, 11410362	Standard	NM_018225		Approved	SMU-1, FLJ10805, BWD, fSAP57	uc003zsf.1	Q2TAY7	OTTHUMG00000019757	ENST00000397149.3:c.823G>A	9.37:g.33057640C>T	ENSP00000380336:p.Asp275Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E3L0|Q9BU59|Q9HA96|Q9NVD1	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Nucleoporin_Nup160,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,prints_G-protein_beta_WD-40_rep	p.D275N	ENST00000397149.3	37	c.823	CCDS6534.1	9	.	.	.	.	.	.	.	.	.	.	C	33	5.193610	0.94960	.	.	ENSG00000122692	ENST00000397149;ENST00000536631	D;D	0.83419	-1.72;-1.72	5.43	5.43	0.79202	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	D	0.89185	0.6643	L	0.56199	1.76	0.80722	D	1	D;D;D	0.89917	0.987;1.0;0.987	D;D;D	0.97110	0.979;1.0;0.979	D	0.89048	0.3453	10	0.54805	T	0.06	-24.9204	17.0943	0.86630	0.0:1.0:0.0:0.0	.	275;114;275	A0MNN4;B4E3L0;Q2TAY7	.;.;SMU1_HUMAN	N	275;114	ENSP00000380336:D275N;ENSP00000443639:D114N	ENSP00000380336:D275N	D	-	1	0	SMU1	33047640	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.687000	0.84139	2.698000	0.92095	0.591000	0.81541	GAT	SMU1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000122692		0.408	SMU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMU1	HGNC	protein_coding	OTTHUMT00000052022.1	123	0.00	0	C	NM_018225		33057640	33057640	-1	no_errors	ENST00000397149	ensembl	human	known	69_37n	missense	85	49.70	84	SNP	1.000	T
SMYD1	150572	genome.wustl.edu	37	2	88367479	88367479	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:88367479C>T	ENST00000419482.2	+	1	181	c.96C>T	c.(94-96)atC>atT	p.I32I	SMYD1_ENST00000438570.1_Silent_p.I32I|SMYD1_ENST00000444564.2_Silent_p.I32I	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	32	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						CTGCAGATATCATCTTTGCTG	0.512																																						dbGAP											0													201.0	228.0	219.0					2																	88367479		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	20986	protein-coding gene	gene with protein product		606846				11923873	Standard	NM_198274		Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000419482.2:c.96C>T	2.37:g.88367479C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV30|A6NE13	Silent	SNP	pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND	p.I32	ENST00000419482.2	37	c.96	CCDS33240.1	2																																																																																			SMYD1	-	pfam_SET_dom,smart_SET_dom	ENSG00000115593		0.512	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMYD1	HGNC	protein_coding	OTTHUMT00000338229.2	161	0.00	0	C	XM_097915		88367479	88367479	+1	no_errors	ENST00000419482	ensembl	human	known	69_37n	silent	158	23.67	49	SNP	1.000	T
SMYD4	114826	genome.wustl.edu	37	17	1731172	1731172	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:1731172G>C	ENST00000305513.7	-	2	284	c.117C>G	c.(115-117)caC>caG	p.H39Q	RPA1_ENST00000254719.5_5'Flank|AC130689.1_ENST00000582190.1_RNA	NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	39							metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						GTGAAGAGGAGTGAAGAAAGA	0.383																																						dbGAP											0													89.0	83.0	85.0					17																	1731172		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB067523	CCDS11013.1	17p13.3	2004-04-21			ENSG00000186532	ENSG00000186532		"""Zinc fingers, MYND-type"""	21067	protein-coding gene	gene with protein product						11572484	Standard	NM_052928		Approved	KIAA1936, ZMYND21	uc002ftm.4	Q8IYR2	OTTHUMG00000090570	ENST00000305513.7:c.117C>G	17.37:g.1731172G>C	ENSP00000304360:p.His39Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N1P2|Q8NAT0|Q96LV4|Q96PV2	Missense_Mutation	SNP	pfam_SET_dom,pfam_Znf_MYND,pfscan_SET_dom,pfscan_Znf_MYND	p.H39Q	ENST00000305513.7	37	c.117	CCDS11013.1	17	.	.	.	.	.	.	.	.	.	.	G	0.092	-1.165720	0.01673	.	.	ENSG00000186532	ENST00000305513	T	0.09538	2.97	4.67	-9.34	0.00636	.	0.835652	0.11456	N	0.562278	T	0.06826	0.0174	L	0.53249	1.67	0.09310	N	1	B	0.14805	0.011	B	0.09377	0.004	T	0.19063	-1.0317	10	0.30078	T	0.28	-0.613	3.8537	0.08967	0.487:0.1786:0.247:0.0875	.	39	Q8IYR2	SMYD4_HUMAN	Q	39	ENSP00000304360:H39Q	ENSP00000304360:H39Q	H	-	3	2	SMYD4	1677922	0.065000	0.20965	0.006000	0.13384	0.177000	0.22998	-1.350000	0.02624	-2.297000	0.00661	-1.587000	0.00848	CAC	SMYD4	-	NULL	ENSG00000186532		0.383	SMYD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMYD4	HGNC	protein_coding	OTTHUMT00000207108.4	69	0.00	0	G	XM_056082		1731172	1731172	-1	no_errors	ENST00000305513	ensembl	human	known	69_37n	missense	59	27.16	22	SNP	0.007	C
SNAP91	9892	genome.wustl.edu	37	6	84368766	84368766	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:84368766C>G	ENST00000439399.2	-	6	814	c.498G>C	c.(496-498)aaG>aaC	p.K166N	SNAP91_ENST00000195649.6_Missense_Mutation_p.K166N|SNAP91_ENST00000437520.1_Missense_Mutation_p.K166N|SNAP91_ENST00000521743.1_Missense_Mutation_p.K166N|SNAP91_ENST00000520213.1_Missense_Mutation_p.K166N|SNAP91_ENST00000369694.2_Missense_Mutation_p.K166N|SNAP91_ENST00000520302.1_Missense_Mutation_p.K166N|SNAP91_ENST00000521485.1_Missense_Mutation_p.K166N|SNAP91_ENST00000428679.2_Missense_Mutation_p.K166N	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	166					clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		TTGGCATACTCTTTAGCAGCT	0.348																																						dbGAP											0													116.0	112.0	114.0					6																	84368766		1877	4101	5978	-	-	-	SO:0001583	missense	0			AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"""synaptosomal-associated protein, 91 kDa (mouse) homolog"", ""synaptosomal-associated protein, 91kDa homolog (mouse)"""			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.498G>C	6.37:g.84368766C>G	ENSP00000400459:p.Lys166Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Missense_Mutation	SNP	pfam_ANTH,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.K166N	ENST00000439399.2	37	c.498	CCDS47455.1	6	.	.	.	.	.	.	.	.	.	.	C	18.44	3.625099	0.66901	.	.	ENSG00000065609	ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000437520;ENST00000520302;ENST00000521743;ENST00000520213;ENST00000521931	T;T;T;T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5	5.56	4.69	0.59074	ANTH (1);Clathrin adaptor, phosphoinositide-binding, GAT-like (1);	0.085894	0.85682	D	0.000000	T	0.50086	0.1595	M	0.83223	2.63	0.58432	D	0.999994	D;D;D;D	0.76494	0.998;0.998;0.986;0.999	D;D;D;D	0.83275	0.99;0.994;0.963;0.996	T	0.60657	-0.7220	10	0.87932	D	0	-9.9412	14.4737	0.67533	0.0:0.9294:0.0:0.0706	.	166;166;166;166	O60641-3;E5RI02;O60641;E1P549	.;.;AP180_HUMAN;.	N	166	ENSP00000429776:K166N;ENSP00000358708:K166N;ENSP00000400459:K166N;ENSP00000195649:K166N;ENSP00000412492:K166N;ENSP00000413277:K166N;ENSP00000428511:K166N;ENSP00000428215:K166N;ENSP00000428026:K166N;ENSP00000430071:K166N	ENSP00000195649:K166N	K	-	3	2	SNAP91	84425485	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	1.467000	0.35321	1.489000	0.48450	0.655000	0.94253	AAG	SNAP91	-	pfam_ANTH	ENSG00000065609		0.348	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SNAP91	HGNC	protein_coding	OTTHUMT00000375296.1	116	0.00	0	C			84368766	84368766	-1	no_errors	ENST00000369694	ensembl	human	known	69_37n	missense	106	18.18	24	SNP	1.000	G
SNED1	25992	genome.wustl.edu	37	2	241991479	241991479	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:241991479C>G	ENST00000310397.8	+	14	1874	c.1874C>G	c.(1873-1875)tCt>tGt	p.S625C	SNED1_ENST00000405547.3_Missense_Mutation_p.S625C|SNED1_ENST00000401884.1_Missense_Mutation_p.S625C|AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000342631.6_Missense_Mutation_p.S625C|SNED1_ENST00000469006.1_3'UTR	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	625	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)		TCGTGTGCCTCTGGCCCCTGT	0.612																																						dbGAP											0													36.0	41.0	39.0					2																	241991479		2038	4180	6218	-	-	-	SO:0001583	missense	0			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.1874C>G	2.37:g.241991479C>G	ENSP00000308893:p.Ser625Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Missense_Mutation	SNP	pfam_EGF-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_EGF-like,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Fibronectin_type3,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Sushi_SCR_CCP	p.S625C	ENST00000310397.8	37	c.1874	CCDS46562.1	2	.	.	.	.	.	.	.	.	.	.	C	15.53	2.861989	0.51482	.	.	ENSG00000162804	ENST00000401884;ENST00000405547;ENST00000310397;ENST00000342631	D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29	4.23	4.23	0.50019	EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.49305	D	0.000153	D	0.95101	0.8413	M	0.93678	3.445	0.52099	D	0.99994	D	0.89917	1.0	D	0.97110	1.0	D	0.96673	0.9498	10	0.87932	D	0	.	16.6094	0.84858	0.0:1.0:0.0:0.0	.	625	Q8TER0	SNED1_HUMAN	C	625	ENSP00000384871:S625C;ENSP00000386007:S625C;ENSP00000308893:S625C;ENSP00000342992:S625C	ENSP00000308893:S625C	S	+	2	0	SNED1	241640152	1.000000	0.71417	0.978000	0.43139	0.069000	0.16628	6.841000	0.75374	1.895000	0.54865	0.555000	0.69702	TCT	SNED1	-	pfam_EGF-like_dom,pfam_EGF_extracell,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom	ENSG00000162804		0.612	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SNED1	HGNC	protein_coding	OTTHUMT00000323935.2	44	0.00	0	C	XM_059482		241991479	241991479	+1	no_errors	ENST00000310397	ensembl	human	known	69_37n	missense	36	21.74	10	SNP	0.999	G
SNED1	25992	genome.wustl.edu	37	2	241991819	241991819	+	Missense_Mutation	SNP	G	G	A	rs544068694		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:241991819G>A	ENST00000310397.8	+	15	2017	c.2017G>A	c.(2017-2019)Gag>Aag	p.E673K	SNED1_ENST00000405547.3_Missense_Mutation_p.E673K|SNED1_ENST00000401884.1_Missense_Mutation_p.E673K|AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000342631.6_Missense_Mutation_p.E673K|SNED1_ENST00000469006.1_3'UTR	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	673	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)		GGGCACCTGCGAGGACCGGGA	0.642													G|||	1	0.000199681	0.0	0.0	5008	,	,		17057	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													54.0	62.0	59.0					2																	241991819		2012	4176	6188	-	-	-	SO:0001583	missense	0			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.2017G>A	2.37:g.241991819G>A	ENSP00000308893:p.Glu673Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Missense_Mutation	SNP	pfam_EGF-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_EGF-like,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Fibronectin_type3,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Sushi_SCR_CCP	p.E673K	ENST00000310397.8	37	c.2017	CCDS46562.1	2	.	.	.	.	.	.	.	.	.	.	G	7.556	0.663735	0.14710	.	.	ENSG00000162804	ENST00000401884;ENST00000405547;ENST00000310397;ENST00000342631	D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25	4.23	3.09	0.35607	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.862082	0.09997	N	0.728984	T	0.68979	0.3060	N	0.10874	0.06	0.09310	N	1	B	0.33120	0.398	B	0.22152	0.038	T	0.56932	-0.7897	10	0.06494	T	0.89	.	9.8048	0.40786	0.1245:0.0:0.8755:0.0	.	673	Q8TER0	SNED1_HUMAN	K	673	ENSP00000384871:E673K;ENSP00000386007:E673K;ENSP00000308893:E673K;ENSP00000342992:E673K	ENSP00000308893:E673K	E	+	1	0	SNED1	241640492	1.000000	0.71417	0.814000	0.32528	0.416000	0.31233	3.728000	0.54991	1.900000	0.55004	0.561000	0.74099	GAG	SNED1	-	smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	ENSG00000162804		0.642	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SNED1	HGNC	protein_coding	OTTHUMT00000323935.2	37	0.00	0	G	XM_059482		241991819	241991819	+1	no_errors	ENST00000310397	ensembl	human	known	69_37n	missense	37	21.28	10	SNP	0.192	A
SNF8	11267	genome.wustl.edu	37	17	47018359	47018359	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:47018359C>G	ENST00000502492.1	-	3	553	c.171G>C	c.(169-171)gaG>gaC	p.E57D	SNF8_ENST00000290330.3_Missense_Mutation_p.E57D			Q96H20	SNF8_HUMAN	SNF8, ESCRT-II complex subunit	57					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|lung(1)	3						TCTTCCGGATCTCCTGCTTGT	0.537																																						dbGAP											0													160.0	138.0	145.0					17																	47018359		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF156102	CCDS11541.1	17q21.32	2013-06-05	2013-06-05		ENSG00000159210	ENSG00000159210			17028	protein-coding gene	gene with protein product		610904	"""SNF8, ESCRT-II complex subunit, homolog (S. cerevisiae)"""			10419521, 15329733	Standard	NM_007241		Approved	EAP30, VPS22, Dot3	uc002ioj.3	Q96H20	OTTHUMG00000160569	ENST00000502492.1:c.171G>C	17.37:g.47018359C>G	ENSP00000421380:p.Glu57Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IXY3|Q9UN50	Missense_Mutation	SNP	pfam_EAP30,pirsf_ESCRT-2_cplx_Snf8	p.E57D	ENST00000502492.1	37	c.171	CCDS11541.1	17	.	.	.	.	.	.	.	.	.	.	c	4.569	0.105713	0.08780	.	.	ENSG00000159210	ENST00000502492;ENST00000290330;ENST00000510558	.	.	.	5.24	0.847	0.18961	.	0.110758	0.64402	D	0.000011	T	0.34658	0.0905	N	0.10685	0.025	0.58432	D	0.999994	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.19976	-1.0289	9	0.87932	D	0	-15.3207	11.3448	0.49554	0.0:0.7277:0.0:0.2723	.	57;57	Q96H20-2;Q96H20	.;SNF8_HUMAN	D	57	.	ENSP00000290330:E57D	E	-	3	2	SNF8	44373358	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.366000	0.34193	0.376000	0.24707	0.651000	0.88453	GAG	SNF8	-	pfam_EAP30,pirsf_ESCRT-2_cplx_Snf8	ENSG00000159210		0.537	SNF8-001	KNOWN	basic|CCDS	protein_coding	SNF8	HGNC	protein_coding	OTTHUMT00000361172.1	76	0.00	0	C	NM_007241		47018359	47018359	-1	no_errors	ENST00000502492	ensembl	human	known	69_37n	missense	135	12.90	20	SNP	0.999	G
RAB3GAP2	25782	genome.wustl.edu	37	1	220373954	220373954	+	Intron	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:220373954C>G	ENST00000358951.2	-	9	928				SNORA36B_ENST00000410438.1_RNA	NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)						establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		TAGCCAGTTTCAATGTTCCAA	0.333																																						dbGAP											0													65.0	59.0	61.0					1																	220373954		1568	3580	5148	-	-	-	SO:0001627	intron_variant	0			AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.811+1663G>C	1.37:g.220373954C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	RNA	SNP	-	NULL	ENST00000358951.2	37	NULL	CCDS31028.1	1																																																																																			SNORA36B	-	-	ENSG00000222370		0.333	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNORA36B	HGNC	protein_coding	OTTHUMT00000090205.2	115	0.00	0	C	NM_012414		220373954	220373954	-1	no_errors	ENST00000410438	ensembl	human	known	69_37n	rna	147	15.03	26	SNP	1.000	G
SNPH	9751	genome.wustl.edu	37	20	1285648	1285648	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:1285648C>G	ENST00000381873.3	+	6	671	c.435C>G	c.(433-435)ctC>ctG	p.L145L	SNPH_ENST00000381867.1_Silent_p.L189L	NM_014723.2	NP_055538.2	O15079	SNPH_HUMAN	syntaphilin	145					brain development (GO:0007420)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|synaptic vesicle docking involved in exocytosis (GO:0016081)	cell junction (GO:0030054)|cytoplasmic microtubule (GO:0005881)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)	syntaxin-1 binding (GO:0017075)	p.L145L(1)|p.L189L(1)		endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TCAAGCAGCTCAAGCAGGTCA	0.562																																						dbGAP											2	Substitution - coding silent(2)	large_intestine(2)											131.0	118.0	122.0					20																	1285648		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS13012.1	20p13	2008-07-02			ENSG00000101298	ENSG00000101298			15931	protein-coding gene	gene with protein product		604942				10707983	Standard	NM_014723		Approved	bA314N13.5	uc002wes.3	O15079	OTTHUMG00000031662	ENST00000381873.3:c.435C>G	20.37:g.1285648C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IYI3	Silent	SNP	NULL	p.L189	ENST00000381873.3	37	c.567	CCDS13012.1	20																																																																																			SNPH	-	NULL	ENSG00000101298		0.562	SNPH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNPH	HGNC	protein_coding	OTTHUMT00000145240.2	54	0.00	0	C	NM_014723		1285648	1285648	+1	no_errors	ENST00000381867	ensembl	human	known	69_37n	silent	78	17.02	16	SNP	1.000	G
SNRNP27	11017	genome.wustl.edu	37	2	70123632	70123632	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:70123632G>A	ENST00000244227.3	+	3	645	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K	SNRNP27_ENST00000409116.1_Missense_Mutation_p.E74K	NM_006857.2	NP_006848.1	Q8WVK2	SNR27_HUMAN	small nuclear ribonucleoprotein 27kDa (U4/U6.U5)	74					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	11						aagagatgaggaaaagaaaga	0.338																																						dbGAP											0													66.0	68.0	67.0					2																	70123632		2201	4300	6501	-	-	-	SO:0001583	missense	0			X76302	CCDS33219.1	2p14	2011-10-11			ENSG00000124380	ENSG00000124380			30240	protein-coding gene	gene with protein product	"""nucleic acid binding protein RY 1"""					7931148	Standard	NM_006857		Approved	RY1	uc002sfw.3	Q8WVK2	OTTHUMG00000152689	ENST00000244227.3:c.220G>A	2.37:g.70123632G>A	ENSP00000244227:p.Glu74Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15410	Missense_Mutation	SNP	pfam_DUF1777	p.E74K	ENST00000244227.3	37	c.220	CCDS33219.1	2	.	.	.	.	.	.	.	.	.	.	g	16.61	3.171647	0.57584	.	.	ENSG00000124380	ENST00000244227;ENST00000409116	T;T	0.42513	0.97;0.97	5.28	5.28	0.74379	Domain of unknown function DUF1777 (1);	0.199633	0.52532	D	0.000076	T	0.30665	0.0772	L	0.41710	1.295	0.42030	D	0.991021	P;B	0.38711	0.643;0.025	B;B	0.34242	0.178;0.013	T	0.07028	-1.0794	10	0.10377	T	0.69	.	14.285	0.66240	0.0:0.0:1.0:0.0	.	74;74	B8ZZ98;Q8WVK2	.;SNR27_HUMAN	K	74	ENSP00000244227:E74K;ENSP00000386608:E74K	ENSP00000244227:E74K	E	+	1	0	SNRNP27	69977136	1.000000	0.71417	0.939000	0.37840	0.995000	0.86356	5.313000	0.65798	2.750000	0.94351	0.585000	0.79938	GAA	SNRNP27	-	pfam_DUF1777	ENSG00000124380		0.338	SNRNP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP27	HGNC	protein_coding	OTTHUMT00000327369.1	89	0.00	0	G	NM_006857		70123632	70123632	+1	no_errors	ENST00000244227	ensembl	human	known	69_37n	missense	106	15.87	20	SNP	0.924	A
SNRNP27	11017	genome.wustl.edu	37	2	70124532	70124532	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:70124532G>A	ENST00000244227.3	+	4	717	c.292G>A	c.(292-294)Gag>Aag	p.E98K	SNRNP27_ENST00000488986.1_3'UTR|SNRNP27_ENST00000409116.1_Missense_Mutation_p.E98K	NM_006857.2	NP_006848.1	Q8WVK2	SNR27_HUMAN	small nuclear ribonucleoprotein 27kDa (U4/U6.U5)	98					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	11						GGGCAAAACAGAGGAAGAAAT	0.318																																						dbGAP											0													102.0	112.0	109.0					2																	70124532		2203	4300	6503	-	-	-	SO:0001583	missense	0			X76302	CCDS33219.1	2p14	2011-10-11			ENSG00000124380	ENSG00000124380			30240	protein-coding gene	gene with protein product	"""nucleic acid binding protein RY 1"""					7931148	Standard	NM_006857		Approved	RY1	uc002sfw.3	Q8WVK2	OTTHUMG00000152689	ENST00000244227.3:c.292G>A	2.37:g.70124532G>A	ENSP00000244227:p.Glu98Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15410	Missense_Mutation	SNP	pfam_DUF1777	p.E98K	ENST00000244227.3	37	c.292	CCDS33219.1	2	.	.	.	.	.	.	.	.	.	.	G	31	5.095045	0.94197	.	.	ENSG00000124380	ENST00000244227;ENST00000409116	T;T	0.30981	1.51;1.51	5.4	5.4	0.78164	Domain of unknown function DUF1777 (1);	0.000000	0.85682	D	0.000000	T	0.57989	0.2091	M	0.83603	2.65	0.80722	D	1	D;P	0.69078	0.997;0.941	D;D	0.79108	0.992;0.973	T	0.54180	-0.8332	10	0.27082	T	0.32	.	16.7131	0.85391	0.0:0.0:1.0:0.0	.	98;98	B8ZZ98;Q8WVK2	.;SNR27_HUMAN	K	98	ENSP00000244227:E98K;ENSP00000386608:E98K	ENSP00000244227:E98K	E	+	1	0	SNRNP27	69978036	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	7.872000	0.87187	2.810000	0.96702	0.585000	0.79938	GAG	SNRNP27	-	pfam_DUF1777	ENSG00000124380		0.318	SNRNP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP27	HGNC	protein_coding	OTTHUMT00000327369.1	72	0.00	0	G	NM_006857		70124532	70124532	+1	no_errors	ENST00000244227	ensembl	human	known	69_37n	missense	89	10.10	10	SNP	1.000	A
SNRNP200	23020	genome.wustl.edu	37	2	96961280	96961280	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:96961280G>A	ENST00000323853.5	-	14	1865	c.1788C>T	c.(1786-1788)atC>atT	p.I596I	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	596	Helicase ATP-binding 1. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CCTTGCGGGTGATGATGTCCC	0.557																																						dbGAP											0													108.0	92.0	98.0					2																	96961280		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.1788C>T	2.37:g.96961280G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Silent	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.I596	ENST00000323853.5	37	c.1788	CCDS2020.1	2																																																																																			SNRNP200	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000144028		0.557	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP200	HGNC	protein_coding	OTTHUMT00000252846.2	52	0.00	0	G	NM_014014		96961280	96961280	-1	no_errors	ENST00000323853	ensembl	human	known	69_37n	silent	59	18.06	13	SNP	0.983	A
SNRPB2	6629	genome.wustl.edu	37	20	16721632	16721632	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:16721632C>T	ENST00000246071.6	+	7	876	c.660C>T	c.(658-660)atC>atT	p.I220I	SNRPB2_ENST00000377943.5_Silent_p.I220I	NM_003092.4	NP_003083.1	P08579	RU2B_HUMAN	small nuclear ribonucleoprotein polypeptide B	220	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2 snRNP (GO:0005686)	nucleotide binding (GO:0000166)|snRNA binding (GO:0017069)			large_intestine(2)|lung(2)|urinary_tract(1)	5						CTATGAAGATCACCTATGCCA	0.388																																						dbGAP											0													84.0	77.0	80.0					20																	16721632		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS13123.1	20p12.1	2013-02-12	2010-07-07		ENSG00000125870	ENSG00000125870		"""RNA binding motif (RRM) containing"""	11155	protein-coding gene	gene with protein product		603520	"""small nuclear ribonucleoprotein polypeptide B2"", ""small nuclear ribonucleoprotein polypeptide B''"""			2951739	Standard	NM_198220		Approved	Msl1	uc002wpi.2	P08579	OTTHUMG00000031933	ENST00000246071.6:c.660C>T	20.37:g.16721632C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7J3|D3DW21|Q9UJD4	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.I220	ENST00000246071.6	37	c.660	CCDS13123.1	20																																																																																			SNRPB2	-	smart_RRM_dom,pfscan_RRM_dom	ENSG00000125870		0.388	SNRPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRPB2	HGNC	protein_coding	OTTHUMT00000078110.1	74	0.00	0	C	NM_003092		16721632	16721632	+1	no_errors	ENST00000246071	ensembl	human	known	69_37n	silent	87	12.12	12	SNP	1.000	T
SNRPG	6637	genome.wustl.edu	37	2	70520779	70520779	+	Start_Codon_SNP	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:70520779C>T	ENST00000272348.2	-	1	124	c.3G>A	c.(1-3)atG>atA	p.M1I	SNRPG_ENST00000429728.1_5'UTR|SNRPG_ENST00000454893.1_Start_Codon_SNP_p.M1I|SNRPG_ENST00000449935.2_5'Flank|SNRPG_ENST00000438261.1_5'Flank|SNRPG_ENST00000482975.2_5'Flank|SNRPG_ENST00000413456.2_5'Flank	NM_003096.2	NP_003087.1	P62308	RUXG_HUMAN	small nuclear ribonucleoprotein polypeptide G	1					gene expression (GO:0010467)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)|U7 snRNP (GO:0005683)	poly(A) RNA binding (GO:0044822)			endometrium(1)	1						GAGCTTTGCTCATGGTGTATA	0.572																																					NSCLC(57;761 1258 15082 39958 48415)	dbGAP											0													174.0	146.0	156.0					2																	70520779		2203	4300	6503	-	-	-	SO:0001582	initiator_codon_variant	0			X85373	CCDS1903.1	2p13.3	2011-10-11			ENSG00000143977	ENSG00000143977			11163	protein-coding gene	gene with protein product		603542				7744013	Standard	NM_003096		Approved	Sm-G	uc002sgp.3	P62308	OTTHUMG00000129670	ENST00000272348.2:c.3G>A	2.37:g.70520779C>T	ENSP00000272348:p.Met1Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	D6W5G6|Q15357|Q6IB86	Missense_Mutation	SNP	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc	p.M1I	ENST00000272348.2	37	c.3	CCDS1903.1	2	.	.	.	.	.	.	.	.	.	.	C	19.78	3.891857	0.72524	.	.	ENSG00000143977	ENST00000272348;ENST00000454893	.	.	.	4.98	4.1	0.47936	.	0.000000	0.85682	U	0.000000	T	0.66925	0.2839	.	.	.	0.28870	N	0.895031	D	0.89917	1.0	D	0.87578	0.998	T	0.64922	-0.6293	8	0.87932	D	0	.	12.7842	0.57496	0.0:0.9198:0.0:0.0802	.	1	P62308	RUXG_HUMAN	I	1	.	ENSP00000272348:M1I	M	-	3	0	SNRPG	70374283	1.000000	0.71417	1.000000	0.80357	0.361000	0.29550	6.629000	0.74267	1.465000	0.48006	0.650000	0.86243	ATG	SNRPG	-	NULL	ENSG00000143977		0.572	SNRPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRPG	HGNC	protein_coding	OTTHUMT00000251871.2	90	0.00	0	C		Missense_Mutation	70520779	70520779	-1	no_errors	ENST00000272348	ensembl	human	known	69_37n	missense	98	35.10	53	SNP	1.000	T
SNX14	57231	genome.wustl.edu	37	6	86243395	86243395	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:86243395G>T	ENST00000314673.3	-	18	1908	c.1732C>A	c.(1732-1734)Ccc>Acc	p.P578T	SNX14_ENST00000505648.1_Missense_Mutation_p.P526T|SNX14_ENST00000369627.2_Missense_Mutation_p.P569T|SNX14_ENST00000513865.1_Intron|SNX14_ENST00000346348.3_Missense_Mutation_p.P525T|SNX14_ENST00000508980.1_5'UTR	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	578	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				protein transport (GO:0015031)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)	phosphatidylinositol binding (GO:0035091)	p.P578S(2)		NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		TCAGAGGAGGGATCCTCAAAA	0.418																																						dbGAP											2	Substitution - Missense(2)	NS(1)|skin(1)											101.0	101.0	101.0					6																	86243395		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF121863	CCDS5003.1, CCDS5004.1, CCDS75490.1	6q15	2008-10-22			ENSG00000135317	ENSG00000135317		"""Sorting nexins"""	14977	protein-coding gene	gene with protein product						11485546, 11736640	Standard	XM_005248738		Approved	RGS-PX2	uc003pkr.3	Q9Y5W7	OTTHUMG00000015140	ENST00000314673.3:c.1732C>A	6.37:g.86243395G>T	ENSP00000313121:p.Pro578Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	Missense_Mutation	SNP	pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,pfam_Regulat_G_prot_signal,superfamily_Phox,superfamily_Regulat_G_prot_signal_superfam,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal	p.P578T	ENST00000314673.3	37	c.1732	CCDS5004.1	6	.	.	.	.	.	.	.	.	.	.	G	0.354	-0.943017	0.02322	.	.	ENSG00000135317	ENST00000346348;ENST00000369628;ENST00000314673;ENST00000505648;ENST00000369627;ENST00000515216	T;T;T;T;T	0.22945	1.95;1.95;1.96;1.93;1.93	5.0	3.16	0.36331	Phox homologous domain (4);	0.453697	0.25101	N	0.033130	T	0.02970	0.0088	N	0.08118	0	0.39453	D	0.967445	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.09377	0.001;0.002;0.004;0.001	T	0.40572	-0.9556	10	0.02654	T	1	0.2768	8.8704	0.35311	0.0:0.1418:0.5365:0.3218	.	569;525;578;526	Q9Y5W7-4;Q9Y5W7-2;Q9Y5W7;Q9Y5W7-3	.;.;SNX14_HUMAN;.	T	525;35;578;526;569;496	ENSP00000257769:P525T;ENSP00000313121:P578T;ENSP00000427380:P526T;ENSP00000358641:P569T;ENSP00000425630:P496T	ENSP00000313121:P578T	P	-	1	0	SNX14	86300114	1.000000	0.71417	1.000000	0.80357	0.051000	0.14879	1.484000	0.35508	0.485000	0.27652	0.655000	0.94253	CCC	SNX14	-	superfamily_Phox,smart_Phox,pfscan_Phox	ENSG00000135317		0.418	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX14	HGNC	protein_coding	OTTHUMT00000041393.2	57	0.00	0	G	NM_153816		86243395	86243395	-1	no_errors	ENST00000314673	ensembl	human	known	69_37n	missense	50	21.88	14	SNP	1.000	T
SNX14	57231	genome.wustl.edu	37	6	86253353	86253353	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:86253353C>G	ENST00000314673.3	-	13	1410	c.1234G>C	c.(1234-1236)Gat>Cat	p.D412H	SNX14_ENST00000505648.1_Missense_Mutation_p.D360H|SNX14_ENST00000369627.2_Missense_Mutation_p.D412H|SNX14_ENST00000513865.1_Missense_Mutation_p.D412H|SNX14_ENST00000346348.3_Missense_Mutation_p.D368H|SNX14_ENST00000508980.1_5'UTR	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	412	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				protein transport (GO:0015031)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)	phosphatidylinositol binding (GO:0035091)			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		ATGAAGGGATCAAATCTAATT	0.289																																						dbGAP											0													46.0	46.0	46.0					6																	86253353		2197	4289	6486	-	-	-	SO:0001583	missense	0			AF121863	CCDS5003.1, CCDS5004.1, CCDS75490.1	6q15	2008-10-22			ENSG00000135317	ENSG00000135317		"""Sorting nexins"""	14977	protein-coding gene	gene with protein product						11485546, 11736640	Standard	XM_005248738		Approved	RGS-PX2	uc003pkr.3	Q9Y5W7	OTTHUMG00000015140	ENST00000314673.3:c.1234G>C	6.37:g.86253353C>G	ENSP00000313121:p.Asp412His	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	Missense_Mutation	SNP	pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,pfam_Regulat_G_prot_signal,superfamily_Phox,superfamily_Regulat_G_prot_signal_superfam,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal	p.D412H	ENST00000314673.3	37	c.1234	CCDS5004.1	6	.	.	.	.	.	.	.	.	.	.	C	25.0	4.590268	0.86851	.	.	ENSG00000135317	ENST00000346348;ENST00000314673;ENST00000513865;ENST00000505648;ENST00000369627;ENST00000515216	T;T;T;T;T;T	0.02763	4.17;4.17;4.17;4.17;4.17;4.17	5.72	5.72	0.89469	Regulator of G protein signalling (2);Regulator of G protein signalling superfamily (1);	0.000000	0.85682	D	0.000000	T	0.09862	0.0242	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.78314	0.991;0.991;0.99;0.986	T	0.02553	-1.1142	10	0.72032	D	0.01	-20.3464	19.8745	0.96864	0.0:1.0:0.0:0.0	.	412;368;412;360	Q9Y5W7-4;Q9Y5W7-2;Q9Y5W7;Q9Y5W7-3	.;.;SNX14_HUMAN;.	H	368;412;412;360;412;339	ENSP00000257769:D368H;ENSP00000313121:D412H;ENSP00000420938:D412H;ENSP00000427380:D360H;ENSP00000358641:D412H;ENSP00000425630:D339H	ENSP00000313121:D412H	D	-	1	0	SNX14	86310072	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.519000	0.67074	2.704000	0.92352	0.467000	0.42956	GAT	SNX14	-	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal	ENSG00000135317		0.289	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX14	HGNC	protein_coding	OTTHUMT00000041393.2	45	0.00	0	C	NM_153816		86253353	86253353	-1	no_errors	ENST00000314673	ensembl	human	known	69_37n	missense	29	21.62	8	SNP	1.000	G
SNX17	9784	genome.wustl.edu	37	2	27597954	27597954	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:27597954G>T	ENST00000233575.2	+	9	930	c.708G>T	c.(706-708)tgG>tgT	p.W236C	SNX17_ENST00000543024.1_Missense_Mutation_p.W22C|SNX17_ENST00000537606.1_Missense_Mutation_p.W211C|SNX17_ENST00000542478.1_Missense_Mutation_p.W22C|ZNF513_ENST00000491924.1_5'Flank	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17	236	FERM-like.				cholesterol catabolic process (GO:0006707)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|receptor-mediated endocytosis (GO:0006898)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)	low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol binding (GO:0035091)|protein C-terminus binding (GO:0008022)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCGTGGGTGGATCTTGGTCA	0.517																																						dbGAP											0													72.0	72.0	72.0					2																	27597954		2203	4300	6503	-	-	-	SO:0001583	missense	0			D31764	CCDS1750.1, CCDS58704.1	2p23-p22	2008-05-21			ENSG00000115234	ENSG00000115234		"""Sorting nexins"""	14979	protein-coding gene	gene with protein product		605963				12169628, 15769472	Standard	NM_014748		Approved	KIAA0064	uc002rkg.2	Q15036	OTTHUMG00000097781	ENST00000233575.2:c.708G>T	2.37:g.27597954G>T	ENSP00000233575:p.Trp236Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DQM7|Q53HN7|Q6IAS3	Missense_Mutation	SNP	pfam_Phox,superfamily_Phox,superfamily_FERM_central,smart_Phox,pfscan_Phox,pfscan_Ras-assoc	p.W236C	ENST00000233575.2	37	c.708	CCDS1750.1	2	.	.	.	.	.	.	.	.	.	.	G	21.6	4.180298	0.78677	.	.	ENSG00000115234	ENST00000233575;ENST00000543024;ENST00000537606;ENST00000542478	T;T;T;T	0.44482	1.74;0.92;1.33;0.92	5.62	5.62	0.85841	.	0.162448	0.56097	D	0.000026	T	0.69672	0.3137	M	0.86864	2.845	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.87578	0.943;0.997;0.997;0.998	T	0.74185	-0.3747	10	0.62326	D	0.03	-12.4075	16.3478	0.83151	0.0:0.0:1.0:0.0	.	211;224;216;236	B4DQM7;B4DTB8;B4DQ37;Q15036	.;.;.;SNX17_HUMAN	C	236;22;211;22	ENSP00000233575:W236C;ENSP00000441779:W22C;ENSP00000439208:W211C;ENSP00000442567:W22C	ENSP00000233575:W236C	W	+	3	0	SNX17	27451458	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.211000	0.95120	2.648000	0.89879	0.462000	0.41574	TGG	SNX17	-	superfamily_FERM_central	ENSG00000115234		0.517	SNX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX17	HGNC	protein_coding	OTTHUMT00000215024.1	42	0.00	0	G	NM_014748		27597954	27597954	+1	no_errors	ENST00000233575	ensembl	human	known	69_37n	missense	35	20.45	9	SNP	1.000	T
SNX19	399979	genome.wustl.edu	37	11	130776528	130776528	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:130776528C>G	ENST00000265909.4	-	6	2823	c.2254G>C	c.(2254-2256)Ggc>Cgc	p.G752R	SNX19_ENST00000534726.1_5'UTR|SNX19_ENST00000528555.1_Missense_Mutation_p.G132R|SNX19_ENST00000533214.1_Missense_Mutation_p.G752R|SNX19_ENST00000545537.1_5'UTR|SNX19_ENST00000539184.1_Missense_Mutation_p.G195R|SNX19_ENST00000530356.1_Missense_Mutation_p.G132R|SNX19_ENST00000533318.1_5'UTR	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	752					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		ACCACATTGCCTTCCTGGAGA	0.418																																						dbGAP											0													105.0	92.0	97.0					11																	130776528		2201	4297	6498	-	-	-	SO:0001583	missense	0			D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"""Sorting nexins"""	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.2254G>C	11.37:g.130776528C>G	ENSP00000265909:p.Gly752Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PKB9|Q8IV55	Missense_Mutation	SNP	pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,superfamily_Phox,smart_PX_assoc_Snx13,smart_Phox,pfscan_Phox,pfscan_Phox_assoc	p.G752R	ENST00000265909.4	37	c.2254	CCDS31721.1	11	.	.	.	.	.	.	.	.	.	.	C	16.76	3.212659	0.58452	.	.	ENSG00000120451	ENST00000265909;ENST00000528555;ENST00000530356;ENST00000539184;ENST00000533214	T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66	5.6	-0.182	0.13287	.	0.662303	0.17870	N	0.159219	T	0.44138	0.1279	L	0.46157	1.445	0.80722	D	1	B;P;B	0.46706	0.077;0.883;0.198	B;P;B	0.47402	0.057;0.546;0.074	T	0.34004	-0.9846	10	0.38643	T	0.18	-2.5823	10.9005	0.47049	0.0:0.5938:0.0:0.4062	.	195;752;752	F5H5D1;E9PKB9;Q92543	.;.;SNX19_HUMAN	R	752;132;132;195;752	ENSP00000265909:G752R;ENSP00000435122:G132R;ENSP00000432307:G132R;ENSP00000443480:G195R;ENSP00000435390:G752R	ENSP00000265909:G752R	G	-	1	0	SNX19	130281738	0.564000	0.26602	0.098000	0.21074	0.777000	0.43975	0.507000	0.22675	0.057000	0.16193	0.655000	0.94253	GGC	SNX19	-	NULL	ENSG00000120451		0.418	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX19	HGNC	protein_coding	OTTHUMT00000385649.1	133	0.00	0	C	NM_014758		130776528	130776528	-1	no_errors	ENST00000265909	ensembl	human	known	69_37n	missense	85	21.30	23	SNP	0.996	G
SNX22	79856	genome.wustl.edu	37	15	64445450	64445450	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:64445450C>A	ENST00000325881.4	+	4	330	c.271C>A	c.(271-273)Ctg>Atg	p.L91M		NM_024798.2	NP_079074.2	Q96L94	SNX22_HUMAN	sorting nexin 22	91	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			large_intestine(3)|lung(1)|urinary_tract(2)	6						CCAGGGCATCCTGTACCTGAA	0.542																																						dbGAP											0													57.0	55.0	56.0					15																	64445450		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK024014	CCDS10190.1	15q22.1	2010-01-15			ENSG00000157734	ENSG00000157734		"""Sorting nexins"""	16315	protein-coding gene	gene with protein product						12461558, 17400918	Standard	NR_073534		Approved	FLJ13952	uc002anc.1	Q96L94	OTTHUMG00000132965	ENST00000325881.4:c.271C>A	15.37:g.64445450C>A	ENSP00000323435:p.Leu91Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WUS9|Q9H844	Missense_Mutation	SNP	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.L91M	ENST00000325881.4	37	c.271	CCDS10190.1	15	.	.	.	.	.	.	.	.	.	.	C	12.73	2.026783	0.35797	.	.	ENSG00000157734	ENST00000380278;ENST00000325881	T	0.50001	0.76	5.51	0.38	0.16222	Phox homologous domain (5);	0.129075	0.51477	D	0.000094	T	0.57666	0.2069	M	0.67397	2.05	0.49213	D	0.99976	D;D	0.71674	0.994;0.998	D;D	0.72982	0.955;0.979	T	0.52764	-0.8532	10	0.51188	T	0.08	-22.1043	5.2653	0.15595	0.0:0.5523:0.1372:0.3105	.	91;63	Q96L94;Q6ZTF9	SNX22_HUMAN;.	M	63;91	ENSP00000323435:L91M	ENSP00000323435:L91M	L	+	1	2	SNX22	62232503	0.154000	0.22792	0.601000	0.28877	0.004000	0.04260	0.313000	0.19415	-0.173000	0.10761	-0.258000	0.10820	CTG	SNX22	-	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	ENSG00000157734		0.542	SNX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX22	HGNC	protein_coding	OTTHUMT00000256524.2	31	0.00	0	C	NM_024798		64445450	64445450	+1	no_errors	ENST00000325881	ensembl	human	known	69_37n	missense	31	18.42	7	SNP	0.977	A
SNX4	8723	genome.wustl.edu	37	3	125172694	125172694	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:125172694C>T	ENST00000251775.4	-	12	1174	c.1150G>A	c.(1150-1152)Gaa>Aaa	p.E384K	SNX4_ENST00000536067.1_Missense_Mutation_p.E239K	NM_003794.2	NP_003785.1	O95219	SNX4_HUMAN	sorting nexin 4	384					endocytic recycling (GO:0032456)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|early endosome membrane (GO:0031901)|membrane (GO:0016020)|protein complex (GO:0043234)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)			breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1)	11						TGTTCTCCTTCATTTATTTGT	0.383																																						dbGAP											0													153.0	149.0	150.0					3																	125172694		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF065485	CCDS3032.1	3q21.2	2014-02-12			ENSG00000114520	ENSG00000114520		"""Sorting nexins"""	11175	protein-coding gene	gene with protein product		605931				9819414	Standard	NM_003794		Approved	ATG24B	uc003eib.4	O95219	OTTHUMG00000159575	ENST00000251775.4:c.1150G>A	3.37:g.125172694C>T	ENSP00000251775:p.Glu384Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KMH0|B4DQV4|D3DNA3	Missense_Mutation	SNP	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.E384K	ENST00000251775.4	37	c.1150	CCDS3032.1	3	.	.	.	.	.	.	.	.	.	.	C	34	5.307984	0.95629	.	.	ENSG00000114520	ENST00000251775;ENST00000536067	T;T	0.52057	0.68;2.01	5.44	5.44	0.79542	.	0.048785	0.85682	D	0.000000	T	0.60534	0.2276	M	0.65498	2.005	0.80722	D	1	D	0.53885	0.963	P	0.52343	0.696	T	0.59005	-0.7535	10	0.37606	T	0.19	-17.5649	19.2621	0.93971	0.0:1.0:0.0:0.0	.	384	O95219	SNX4_HUMAN	K	384;239	ENSP00000251775:E384K;ENSP00000440824:E239K	ENSP00000251775:E384K	E	-	1	0	SNX4	126655384	1.000000	0.71417	0.961000	0.40146	0.994000	0.84299	6.934000	0.75880	2.535000	0.85469	0.557000	0.71058	GAA	SNX4	-	NULL	ENSG00000114520		0.383	SNX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX4	HGNC	protein_coding	OTTHUMT00000356299.1	184	0.54	1	C	NM_003794		125172694	125172694	-1	no_errors	ENST00000251775	ensembl	human	known	69_37n	missense	183	20.43	47	SNP	1.000	T
SNX9	51429	genome.wustl.edu	37	6	158359728	158359728	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:158359728G>C	ENST00000392185.3	+	16	1768	c.1597G>C	c.(1597-1599)Gac>Cac	p.D533H		NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	533	BAR.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|lipid tube assembly (GO:0060988)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein oligomerization (GO:0032461)|receptor-mediated endocytosis (GO:0006898)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	1-phosphatidylinositol binding (GO:0005545)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		CACCCTACAAGACAAACAGAA	0.388																																						dbGAP											0													230.0	220.0	223.0					6																	158359728		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF121859	CCDS5253.1	6q25.1-q26	2008-05-22			ENSG00000130340	ENSG00000130340		"""Sorting nexins"""	14973	protein-coding gene	gene with protein product		605952				10531379, 17609109	Standard	NM_016224		Approved	SH3PX1, SDP1, SH3PXD3A	uc003qqv.1	Q9Y5X1	OTTHUMG00000015903	ENST00000392185.3:c.1597G>C	6.37:g.158359728G>C	ENSP00000376024:p.Asp533His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BSI7|Q9BVM1|Q9UJH6|Q9UP20	Missense_Mutation	SNP	pfam_Sorting_nexin_WASP-bd-dom,pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,smart_Phox,pirsf_Snx9,pfscan_Phox,pfscan_SH3_domain	p.D533H	ENST00000392185.3	37	c.1597	CCDS5253.1	6	.	.	.	.	.	.	.	.	.	.	G	26.7	4.758837	0.89843	.	.	ENSG00000130340	ENST00000539592;ENST00000392185;ENST00000252631	T	0.48201	0.82	5.52	5.52	0.82312	Sorting nexin protein, WASP-binding domain (1);	0.041854	0.85682	D	0.000000	T	0.59266	0.2181	L	0.52364	1.645	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62618	-0.6816	10	0.62326	D	0.03	-19.5375	19.7833	0.96426	0.0:0.0:1.0:0.0	.	533	Q9Y5X1	SNX9_HUMAN	H	533;533;333	ENSP00000376024:D533H	ENSP00000252631:D333H	D	+	1	0	SNX9	158279716	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	9.243000	0.95416	2.221000	0.72209	0.379000	0.24179	GAC	SNX9	-	pfam_Sorting_nexin_WASP-bd-dom,pirsf_Snx9	ENSG00000130340		0.388	SNX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX9	HGNC	protein_coding	OTTHUMT00000042856.1	111	0.00	0	G			158359728	158359728	+1	no_errors	ENST00000392185	ensembl	human	known	69_37n	missense	62	24.39	20	SNP	1.000	C
SOAT1	6646	genome.wustl.edu	37	1	179320505	179320505	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:179320505C>A	ENST00000367619.3	+	15	1647	c.1504C>A	c.(1504-1506)Ctg>Atg	p.L502M	SOAT1_ENST00000539888.1_Missense_Mutation_p.L437M|SOAT1_ENST00000535686.1_Missense_Mutation_p.L238M|SOAT1_ENST00000540564.1_Missense_Mutation_p.L444M	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	502					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol storage (GO:0010878)|macrophage derived foam cell differentiation (GO:0010742)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|sterol O-acyltransferase activity (GO:0004772)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	TTGGAATGTTCTGATGTGGAC	0.393																																						dbGAP											0													247.0	231.0	236.0					1																	179320505		2203	4300	6503	-	-	-	SO:0001583	missense	0			L21934	CCDS1330.1, CCDS58047.1, CCDS58048.1	1q25	2008-08-26	2008-08-26		ENSG00000057252	ENSG00000057252	2.3.1.26		11177	protein-coding gene	gene with protein product	"""acyl-Coenzyme A: cholesterol acyltransferase"""	102642	"""sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1"""	SOAT, STAT		8407899	Standard	NM_003101		Approved	ACAT	uc001gml.3	P35610	OTTHUMG00000035253	ENST00000367619.3:c.1504C>A	1.37:g.179320505C>A	ENSP00000356591:p.Leu502Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NC40|A8K3P4|A9Z1V7|B4DU95|Q5T0X4|Q8N1E4	Missense_Mutation	SNP	pfam_MBOAT_fam	p.L502M	ENST00000367619.3	37	c.1504	CCDS1330.1	1	.	.	.	.	.	.	.	.	.	.	C	9.789	1.177341	0.21787	.	.	ENSG00000057252	ENST00000539888;ENST00000540564;ENST00000535686;ENST00000367619	T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82	5.71	-7.56	0.01322	.	0.278607	0.46145	N	0.000311	T	0.45377	0.1339	N	0.11698	0.16	0.09310	N	0.999999	B;B	0.14438	0.005;0.01	B;B	0.22152	0.038;0.038	T	0.33548	-0.9864	10	0.21014	T	0.42	-19.6148	7.861	0.29509	0.3341:0.3636:0.0:0.3023	.	444;502	A8K3P4;P35610	.;SOAT1_HUMAN	M	437;444;238;502	ENSP00000441356:L437M;ENSP00000445315:L444M;ENSP00000442503:L238M;ENSP00000356591:L502M	ENSP00000356591:L502M	L	+	1	2	SOAT1	177587128	0.259000	0.24043	0.312000	0.25196	0.798000	0.45092	0.288000	0.18939	-1.702000	0.01411	-0.808000	0.03180	CTG	SOAT1	-	pfam_MBOAT_fam	ENSG00000057252		0.393	SOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOAT1	HGNC	protein_coding	OTTHUMT00000085286.2	152	0.00	0	C	NM_003101		179320505	179320505	+1	no_errors	ENST00000367619	ensembl	human	known	69_37n	missense	161	34.82	86	SNP	0.146	A
SOAT2	8435	genome.wustl.edu	37	12	53499384	53499384	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:53499384C>T	ENST00000301466.3	+	4	375	c.315C>T	c.(313-315)atC>atT	p.I105I		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	105					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|intestinal cholesterol absorption (GO:0030299)|macrophage derived foam cell differentiation (GO:0010742)|very-low-density lipoprotein particle assembly (GO:0034379)	brush border (GO:0005903)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|transferase activity, transferring acyl groups (GO:0016746)			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18					Hesperetin(DB01094)	AAGTTTTCATCATCCGCAAGT	0.507																																						dbGAP											0													51.0	47.0	48.0					12																	53499384		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF059203	CCDS8847.1	12q13.13	2012-09-20			ENSG00000167780	ENSG00000167780	2.3.1.26		11178	protein-coding gene	gene with protein product		601311				9756920	Standard	NM_003578		Approved	ACAT2	uc001sbv.3	O75908	OTTHUMG00000169774	ENST00000301466.3:c.315C>T	12.37:g.53499384C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	F5H7W4|I6L9H9|Q4VB99|Q4VBA1|Q96TD4|Q9UNR2	Silent	SNP	pfam_MBOAT_fam	p.I105	ENST00000301466.3	37	c.315	CCDS8847.1	12																																																																																			SOAT2	-	NULL	ENSG00000167780		0.507	SOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOAT2	HGNC	protein_coding	OTTHUMT00000405817.1	53	0.00	0	C			53499384	53499384	+1	no_errors	ENST00000301466	ensembl	human	known	69_37n	silent	65	13.33	10	SNP	0.657	T
SON	6651	genome.wustl.edu	37	21	34923720	34923720	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr21:34923720C>A	ENST00000356577.4	+	3	2658	c.2183C>A	c.(2182-2184)tCc>tAc	p.S728Y	SON_ENST00000300278.4_Missense_Mutation_p.S728Y|SON_ENST00000381679.4_Missense_Mutation_p.S728Y|SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Missense_Mutation_p.S728Y	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	728	17 X 10 AA tandem repeats of L-A-[ST]- [NSG]-[TS]-MDSQM.				cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						ATATTAGCATCCAACACCATG	0.493																																						dbGAP											0													143.0	136.0	138.0					21																	34923720		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.2183C>A	21.37:g.34923720C>A	ENSP00000348984:p.Ser728Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	pfam_G_patch_dom,superfamily_WD40_repeat_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_Ds-RNA-bd	p.S728Y	ENST00000356577.4	37	c.2183	CCDS13629.1	21	.	.	.	.	.	.	.	.	.	.	C	13.47	2.246850	0.39697	.	.	ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	T;T;T;T	0.34667	2.76;1.35;2.78;1.35	5.66	5.66	0.87406	.	0.000000	0.53938	D	0.000046	T	0.56031	0.1958	M	0.63843	1.955	0.29487	N	0.855947	D;D;P	0.71674	0.998;0.998;0.641	D;D;P	0.80764	0.993;0.994;0.598	T	0.56529	-0.7964	10	0.62326	D	0.03	.	12.9475	0.58382	0.0:0.8372:0.1628:0.0	.	728;728;728	P18583;P18583-3;P18583-6	SON_HUMAN;.;.	Y	728	ENSP00000348984:S728Y;ENSP00000290239:S728Y;ENSP00000300278:S728Y;ENSP00000371095:S728Y	ENSP00000290239:S728Y	S	+	2	0	SON	33845590	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.308000	0.51896	2.673000	0.90976	0.551000	0.68910	TCC	SON	-	NULL	ENSG00000159140		0.493	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SON	HGNC	protein_coding	OTTHUMT00000140978.2	137	0.00	0	C	NM_138927		34923720	34923720	+1	no_errors	ENST00000356577	ensembl	human	known	69_37n	missense	83	20.95	22	SNP	1.000	A
SORBS1	10580	genome.wustl.edu	37	10	97101164	97101164	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:97101164G>C	ENST00000361941.3	-	26	2574	c.2548C>G	c.(2548-2550)Ctt>Gtt	p.L850V	SORBS1_ENST00000371245.3_Missense_Mutation_p.L701V|SORBS1_ENST00000607232.1_Missense_Mutation_p.L1110V|SORBS1_ENST00000371247.2_Missense_Mutation_p.L850V|SORBS1_ENST00000347291.4_Missense_Mutation_p.L662V|SORBS1_ENST00000371246.2_Missense_Mutation_p.L872V|SORBS1_ENST00000371241.1_Missense_Mutation_p.L500V|SORBS1_ENST00000353505.5_Missense_Mutation_p.L701V|SORBS1_ENST00000277982.5_Missense_Mutation_p.L872V|SORBS1_ENST00000354106.3_Missense_Mutation_p.L820V|SORBS1_ENST00000371239.1_Missense_Mutation_p.L627V|SORBS1_ENST00000474353.2_5'Flank|SORBS1_ENST00000306402.6_Missense_Mutation_p.L597V|SORBS1_ENST00000371227.4_Missense_Mutation_p.L804V|SORBS1_ENST00000371249.2_Missense_Mutation_p.L632V|SORBS1_ENST00000393949.1_Missense_Mutation_p.L820V	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1											NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		gcaggaggaagaagctgagaa	0.403																																						dbGAP											0													78.0	82.0	81.0					10																	97101164		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"""c-Cbl-associated protein"""	605264	"""SH3-domain protein 5 (ponsin)"""	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.2548C>G	10.37:g.97101164G>C	ENSP00000355136:p.Leu850Val	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain	p.L850V	ENST00000361941.3	37	c.2548	CCDS31255.1	10	.	.	.	.	.	.	.	.	.	.	G	18.16	3.561813	0.65538	.	.	ENSG00000095637	ENST00000371245;ENST00000306402;ENST00000371249;ENST00000371247;ENST00000371227;ENST00000371246;ENST00000393949;ENST00000353505;ENST00000347291;ENST00000361941;ENST00000277982;ENST00000371241;ENST00000354106;ENST00000371239	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.14266	2.52;2.52;2.52;2.52;2.52;2.52;2.52;2.52;2.52;2.52;2.52;2.52;2.52;2.52	5.94	5.94	0.96194	Src homology-3 domain (3);	0.000000	0.36519	N	0.002551	T	0.29556	0.0737	L	0.45137	1.4	0.46874	D	0.999232	B;D;B;P;B;D;P;B;D;P;D;B	0.58970	0.351;0.972;0.372;0.812;0.336;0.984;0.815;0.025;0.972;0.498;0.972;0.392	B;D;B;B;B;P;B;B;D;B;P;B	0.64321	0.428;0.924;0.273;0.355;0.237;0.902;0.421;0.127;0.924;0.2;0.891;0.349	T	0.00070	-1.2133	10	0.36615	T	0.2	-15.577	18.5399	0.91024	0.0:0.0:1.0:0.0	.	565;804;632;597;500;627;701;850;872;662;820;344	B4DTX5;Q9BX66-11;Q9BX66-10;Q9BX66-9;Q9BX66-4;Q9BX66-8;Q9BX66-3;Q9BX66;Q9BX66-2;Q9BX66-6;Q9BX66-5;Q6MZY5	.;.;.;.;.;.;.;SRBS1_HUMAN;.;.;.;.	V	701;597;632;850;804;872;820;701;662;850;872;500;820;627	ENSP00000360291:L701V;ENSP00000302556:L597V;ENSP00000360295:L632V;ENSP00000360293:L850V;ENSP00000360271:L804V;ENSP00000360292:L872V;ENSP00000377521:L820V;ENSP00000343998:L701V;ENSP00000277985:L662V;ENSP00000355136:L850V;ENSP00000277982:L872V;ENSP00000360285:L500V;ENSP00000277984:L820V;ENSP00000360283:L627V	ENSP00000277982:L872V	L	-	1	0	SORBS1	97091154	1.000000	0.71417	0.997000	0.53966	0.958000	0.62258	5.321000	0.65846	2.816000	0.96949	0.563000	0.77884	CTT	SORBS1	-	superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000095637		0.403	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SORBS1	HGNC	protein_coding	OTTHUMT00000049517.1	75	0.00	0	G			97101164	97101164	-1	no_errors	ENST00000361941	ensembl	human	known	69_37n	missense	38	42.65	29	SNP	0.999	C
SORCS1	114815	genome.wustl.edu	37	10	108923816	108923816	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:108923816C>A	ENST00000263054.6	-	1	476	c.469G>T	c.(469-471)Gag>Tag	p.E157*	SORCS1_ENST00000344440.6_Nonsense_Mutation_p.E157*	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	157					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.E157Q(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		AGTCTCAGCTCCTCCATCCGG	0.637																																						dbGAP											2	Substitution - Missense(2)	lung(2)											76.0	68.0	71.0					10																	108923816		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.469G>T	10.37:g.108923816C>A	ENSP00000263054:p.Glu157*	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Nonsense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.E157*	ENST00000263054.6	37	c.469	CCDS7559.1	10	.	.	.	.	.	.	.	.	.	.	C	39	7.468956	0.98302	.	.	ENSG00000108018	ENST00000263054;ENST00000344440	.	.	.	4.81	3.91	0.45181	.	0.182510	0.34906	N	0.003600	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.418	11.721	0.51683	0.0:0.9134:0.0:0.0866	.	.	.	.	X	157	.	.	E	-	1	0	SORCS1	108913806	1.000000	0.71417	0.998000	0.56505	0.960000	0.62799	6.892000	0.75644	1.242000	0.43836	0.655000	0.94253	GAG	SORCS1	-	NULL	ENSG00000108018		0.637	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS1	HGNC	protein_coding	OTTHUMT00000050232.4	35	0.00	0	C	NM_052918		108923816	108923816	-1	no_errors	ENST00000344440	ensembl	human	known	69_37n	nonsense	26	21.21	7	SNP	1.000	A
SORL1	6653	genome.wustl.edu	37	11	121425982	121425982	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:121425982C>T	ENST00000260197.7	+	18	2655	c.2526C>T	c.(2524-2526)ctC>ctT	p.L842L		NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	842					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TTGAACCCCTCAGCCAGCTGC	0.483																																						dbGAP											0													98.0	101.0	100.0					11																	121425982		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.2526C>T	11.37:g.121425982C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNX7|Q92856	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.L842	ENST00000260197.7	37	c.2526	CCDS8436.1	11																																																																																			SORL1	-	smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	ENSG00000137642		0.483	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORL1	HGNC	protein_coding	OTTHUMT00000387626.2	113	0.00	0	C	NM_003105		121425982	121425982	+1	no_errors	ENST00000260197	ensembl	human	known	69_37n	silent	31	59.74	46	SNP	1.000	T
SOS2	6655	genome.wustl.edu	37	14	50597447	50597447	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:50597447C>A	ENST00000216373.5	-	20	3383	c.3109G>T	c.(3109-3111)Gga>Tga	p.G1037*	SOS2_ENST00000543680.1_Nonsense_Mutation_p.G1004*	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	1037					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 small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					GGCCTTATTCCAGGAGATTTT	0.383																																						dbGAP											0													91.0	83.0	85.0					14																	50597447		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11188	protein-coding gene	gene with protein product		601247	"""son of sevenless (Drosophilia) homolog 2"""			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.3109G>T	14.37:g.50597447C>A	ENSP00000216373:p.Gly1037*	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZKT6|D3DSB4|Q15503|Q17RN1	Nonsense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.G1037*	ENST00000216373.5	37	c.3109	CCDS9697.1	14	.	.	.	.	.	.	.	.	.	.	C	40	8.276754	0.98740	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	.	.	.	5.62	5.62	0.85841	.	0.212381	0.47852	D	0.000216	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.6501	0.95796	0.0:1.0:0.0:0.0	.	.	.	.	X	1037;1004	.	ENSP00000216373:G1037X	G	-	1	0	SOS2	49667197	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	7.151000	0.77411	2.657000	0.90304	0.484000	0.47621	GGA	SOS2	-	superfamily_Ras_GEF_dom	ENSG00000100485		0.383	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOS2	HGNC	protein_coding	OTTHUMT00000276878.2	105	0.00	0	C			50597447	50597447	-1	no_errors	ENST00000216373	ensembl	human	known	69_37n	nonsense	58	32.56	28	SNP	1.000	A
SOS2	6655	genome.wustl.edu	37	14	50655412	50655412	+	Missense_Mutation	SNP	T	T	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:50655412T>C	ENST00000216373.5	-	5	791	c.517A>G	c.(517-519)Atg>Gtg	p.M173V	SOS2_ENST00000543680.1_Missense_Mutation_p.M173V	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	173					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 small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					AACATGTCCATCAAAACCTGA	0.313																																						dbGAP											0													61.0	56.0	58.0					14																	50655412		2203	4300	6503	-	-	-	SO:0001583	missense	0			L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11188	protein-coding gene	gene with protein product		601247	"""son of sevenless (Drosophilia) homolog 2"""			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.517A>G	14.37:g.50655412T>C	ENSP00000216373:p.Met173Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZKT6|D3DSB4|Q15503|Q17RN1	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.M173V	ENST00000216373.5	37	c.517	CCDS9697.1	14	.	.	.	.	.	.	.	.	.	.	T	22.0	4.228269	0.79576	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	D;D	0.84800	-1.9;-1.9	5.53	5.53	0.82687	Histone-fold (2);	0.225469	0.56097	D	0.000028	D	0.87261	0.6133	L	0.36672	1.1	0.80722	D	1	D;D	0.63880	0.993;0.976	P;P	0.58820	0.846;0.549	D	0.88727	0.3234	10	0.72032	D	0.01	.	15.6484	0.77073	0.0:0.0:0.0:1.0	.	173;173	B7ZKT6;Q07890	.;SOS2_HUMAN	V	173	ENSP00000216373:M173V;ENSP00000445328:M173V	ENSP00000216373:M173V	M	-	1	0	SOS2	49725162	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.036000	0.88901	2.091000	0.63221	0.533000	0.62120	ATG	SOS2	-	superfamily_Histone-fold	ENSG00000100485		0.313	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOS2	HGNC	protein_coding	OTTHUMT00000276878.2	80	0.00	0	T			50655412	50655412	-1	no_errors	ENST00000216373	ensembl	human	known	69_37n	missense	51	15.00	9	SNP	1.000	C
SOX30	11063	genome.wustl.edu	37	5	157078252	157078252	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:157078252G>A	ENST00000265007.6	-	1	1176	c.835C>T	c.(835-837)Ccg>Tcg	p.P279S	SOX30_ENST00000519442.1_Intron|SOX30_ENST00000311371.5_Missense_Mutation_p.P279S	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	279					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to corticosteroid (GO:0031960)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCTGAAGGCGGAGCTCCCTGA	0.562																																					Esophageal Squamous(31;525 799 19355 21125 41744)	dbGAP											0													65.0	74.0	71.0					5																	157078252		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB022083	CCDS4339.1, CCDS4340.1	5q33	2010-10-21			ENSG00000039600	ENSG00000039600		"""SRY (sex determining region Y)-boxes"""	30635	protein-coding gene	gene with protein product		606698				15019997, 11678506	Standard	NM_178424		Approved		uc003lxb.1	O94993	OTTHUMG00000130247	ENST00000265007.6:c.835C>T	5.37:g.157078252G>A	ENSP00000265007:p.Pro279Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	O94995|Q8IYX6	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.P279S	ENST00000265007.6	37	c.835	CCDS4339.1	5	.	.	.	.	.	.	.	.	.	.	G	13.56	2.272751	0.40194	.	.	ENSG00000039600	ENST00000311371;ENST00000265007	D;D	0.98400	-4.91;-4.43	4.66	4.66	0.58398	.	0.114484	0.39759	N	0.001269	D	0.97742	0.9259	L	0.29908	0.895	0.80722	D	1	D;P	0.71674	0.998;0.948	D;P	0.66351	0.943;0.591	D	0.98628	1.0670	10	0.62326	D	0.03	.	15.9258	0.79615	0.0:0.0:1.0:0.0	.	279;279	O94993-2;O94993	.;SOX30_HUMAN	S	279	ENSP00000309343:P279S;ENSP00000265007:P279S	ENSP00000265007:P279S	P	-	1	0	SOX30	157010830	1.000000	0.71417	0.998000	0.56505	0.044000	0.14063	3.389000	0.52516	2.420000	0.82092	0.460000	0.39030	CCG	SOX30	-	NULL	ENSG00000039600		0.562	SOX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SOX30	HGNC	protein_coding	OTTHUMT00000252571.2	52	0.00	0	G	NM_007017		157078252	157078252	-1	no_errors	ENST00000265007	ensembl	human	known	69_37n	missense	35	32.69	17	SNP	0.997	A
SOX9	6662	genome.wustl.edu	37	17	70117755	70117755	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:70117755G>A	ENST00000245479.2	+	1	595	c.223G>A	c.(223-225)Gag>Aag	p.E75K		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	75					astrocyte fate commitment (GO:0060018)|branching involved in ureteric bud morphogenesis (GO:0001658)|cAMP-mediated signaling (GO:0019933)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to heparin (GO:0071504)|cellular response to interleukin-1 (GO:0071347)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|chondrocyte hypertrophy (GO:0003415)|chromatin remodeling (GO:0006338)|cochlea morphogenesis (GO:0090103)|cytoskeleton organization (GO:0007010)|endocardial cushion morphogenesis (GO:0003203)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in prostatic bud elongation (GO:0060517)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|heart valve development (GO:0003170)|heart valve formation (GO:0003188)|heart valve morphogenesis (GO:0003179)|intestinal epithelial structure maintenance (GO:0060729)|intrahepatic bile duct development (GO:0035622)|limb bud formation (GO:0060174)|lung epithelial cell differentiation (GO:0060487)|male germ-line sex determination (GO:0019100)|male gonad development (GO:0008584)|mammary gland development (GO:0030879)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of bone mineralization (GO:0030502)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune system process (GO:0002683)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of ossification (GO:0030279)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|notochord development (GO:0030903)|nucleosome assembly (GO:0006334)|oligodendrocyte differentiation (GO:0048709)|ossification (GO:0001503)|otic vesicle formation (GO:0030916)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extracellular matrix assembly (GO:1901203)|positive regulation of kidney development (GO:0090184)|positive regulation of male gonad development (GO:2000020)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein complex assembly (GO:0006461)|protein kinase B signaling (GO:0043491)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in lung morphogenesis (GO:0061046)|regulation of cell adhesion (GO:0030155)|regulation of cell cycle process (GO:0010564)|regulation of cell proliferation (GO:0042127)|regulation of cell proliferation involved in tissue homeostasis (GO:0060784)|regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000794)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spermatogenesis (GO:0007283)|tissue homeostasis (GO:0001894)|transcription from RNA polymerase II promoter (GO:0006366)|ureter morphogenesis (GO:0072197)|ureter smooth muscle cell differentiation (GO:0072193)|ureter urothelium development (GO:0072190)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enhancer binding (GO:0035326)|enhancer sequence-specific DNA binding (GO:0001158)|pre-mRNA intronic binding (GO:0097157)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase activity (GO:0004672)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E75K(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			GTGCATCCGCGAGGCGGTCAG	0.652																																					Pancreas(42;83 1041 2320 35205 39456)	dbGAP											1	Substitution - Missense(1)	lung(1)											52.0	37.0	42.0					17																	70117755		2203	4300	6503	-	-	-	SO:0001583	missense	0			S74506	CCDS11689.1	17q24.3	2013-10-17	2008-07-31		ENSG00000125398	ENSG00000125398		"""SRY (sex determining region Y)-boxes"""	11204	protein-coding gene	gene with protein product		608160	"""campomelic dysplasia, autosomal sex-reversal"""	CMD1, CMPD1		8348155	Standard	NM_000346		Approved	SRA1	uc002jiw.3	P48436	OTTHUMG00000166300	ENST00000245479.2:c.223G>A	17.37:g.70117755G>A	ENSP00000245479:p.Glu75Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53Y80	Missense_Mutation	SNP	pfam_Sox_N,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.E75K	ENST00000245479.2	37	c.223	CCDS11689.1	17	.	.	.	.	.	.	.	.	.	.	G	35	5.470789	0.96274	.	.	ENSG00000125398	ENST00000245479;ENST00000455872	T	0.81078	-1.45	4.39	4.39	0.52855	.	0.056768	0.64402	U	0.000002	D	0.90225	0.6944	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.92194	0.5762	10	0.87932	D	0	.	16.9671	0.86288	0.0:0.0:1.0:0.0	.	75	P48436	SOX9_HUMAN	K	75	ENSP00000245479:E75K	ENSP00000245479:E75K	E	+	1	0	SOX9	67629350	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.575000	0.98187	1.997000	0.58415	0.491000	0.48974	GAG	SOX9	-	pfam_Sox_N	ENSG00000125398		0.652	SOX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX9	HGNC	protein_coding	OTTHUMT00000389032.1	23	0.00	0	G	NM_000346		70117755	70117755	+1	no_errors	ENST00000245479	ensembl	human	known	69_37n	missense	24	27.27	9	SNP	1.000	A
SP3	6670	genome.wustl.edu	37	2	174777920	174777920	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:174777920G>C	ENST00000310015.6	-	6	2437	c.1907C>G	c.(1906-1908)tCa>tGa	p.S636*	SP3_ENST00000418194.2_Nonsense_Mutation_p.S568*|SP3_ENST00000455789.2_Nonsense_Mutation_p.S583*	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	636					B cell differentiation (GO:0030183)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|granulocyte differentiation (GO:0030851)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|monocyte differentiation (GO:0030224)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|T cell differentiation (GO:0030217)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|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)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			TCTCAGATGTGAGGTCTTCCC	0.388																																						dbGAP											0													116.0	101.0	106.0					2																	174777920		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			M97191	CCDS2254.1, CCDS46452.1	2q31	2013-01-08			ENSG00000172845	ENSG00000172845		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11208	protein-coding gene	gene with protein product		601804				1341900, 1454515	Standard	NM_003111		Approved	SPR-2	uc002uig.3	Q02447	OTTHUMG00000132333	ENST00000310015.6:c.1907C>G	2.37:g.174777920G>C	ENSP00000310301:p.Ser636*	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVL9|B4E2B7|Q69B26|Q69B27|Q8TD56|Q8WWU4|Q9BQR1	Nonsense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Galactose-bd-like,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S636*	ENST00000310015.6	37	c.1907	CCDS2254.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	6.900123|6.900123	0.97920|0.97920	.|.	.|.	ENSG00000172845|ENSG00000172845	ENST00000416195|ENST00000310015;ENST00000455789;ENST00000418194	.|.	.|.	.|.	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.82038|.	0.4950|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	D|.	0.83580|.	0.0117|.	3|.	.|0.87932	.|D	.|0	.|.	19.8297|19.8297	0.96630|0.96630	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	D|X	593|636;583;568	.|.	.|ENSP00000310301:S636X	H|S	-|-	1|2	0|0	SP3|SP3	174486166|174486166	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.869000|9.869000	0.99810|0.99810	2.697000|2.697000	0.92050|0.92050	0.557000|0.557000	0.71058|0.71058	CAC|TCA	SP3	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000172845		0.388	SP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SP3	HGNC	protein_coding	OTTHUMT00000255452.1	118	0.00	0	G	NM_003111		174777920	174777920	-1	no_errors	ENST00000310015	ensembl	human	known	69_37n	nonsense	123	18.54	28	SNP	1.000	C
SP110	3431	genome.wustl.edu	37	2	231067385	231067385	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:231067385G>C	ENST00000358662.4	-	9	1036	c.958C>G	c.(958-960)Caa>Gaa	p.Q320E	SP110_ENST00000258381.6_Missense_Mutation_p.Q320E|SP110_ENST00000540870.1_Missense_Mutation_p.Q326E|SP110_ENST00000392048.3_Missense_Mutation_p.Q318E|SP110_ENST00000486146.2_5'Flank|SP110_ENST00000338556.3_Intron|SP110_ENST00000258382.5_Missense_Mutation_p.Q320E	NM_004509.3	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	320					regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		TCTTTCTTTTGAGGAACCTGA	0.458																																						dbGAP											0													213.0	193.0	200.0					2																	231067385		2203	4300	6503	-	-	-	SO:0001583	missense	0			L22343	CCDS2474.1, CCDS2475.1, CCDS2476.1, CCDS54435.1	2q37.1	2014-09-17	2001-12-19	2001-12-20	ENSG00000135899	ENSG00000135899			5401	protein-coding gene	gene with protein product		604457	"""interferon-induced protein 41, 30kD"""	IFI41, IFI75		7693701, 10388521	Standard	NM_080424		Approved		uc002vqg.3	Q9HB58	OTTHUMG00000133204	ENST00000358662.4:c.958C>G	2.37:g.231067385G>C	ENSP00000351488:p.Gln320Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DVI4|F5H1M1|Q14976|Q14977|Q53TG2|Q8WUZ6|Q9HCT8	Missense_Mutation	SNP	pfam_Sp100,pfam_SAND_dom,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom	p.Q320E	ENST00000358662.4	37	c.958	CCDS2474.1	2	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.573114	0.00887	.	.	ENSG00000135899	ENST00000258381;ENST00000358662;ENST00000392048;ENST00000258382;ENST00000540870	T;T;T;T;T	0.67523	0.96;0.88;-0.18;-0.23;-0.27	3.49	-2.29	0.06805	.	.	.	.	.	T	0.49830	0.1580	L	0.38175	1.15	0.09310	N	0.999999	B;B;P;P	0.43633	0.041;0.041;0.688;0.813	B;B;B;B	0.44224	0.019;0.019;0.169;0.444	T	0.40040	-0.9584	9	0.30854	T	0.27	.	0.5498	0.00661	0.2076:0.1582:0.312:0.3222	.	318;326;320;320	G5E9C0;F5H1M1;Q9HB58;Q9HB58-6	.;.;SP110_HUMAN;.	E	320;320;318;320;326	ENSP00000258381:Q320E;ENSP00000351488:Q320E;ENSP00000375902:Q318E;ENSP00000258382:Q320E;ENSP00000439558:Q326E	ENSP00000258381:Q320E	Q	-	1	0	SP110	230775629	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	-0.099000	0.11007	-0.494000	0.06669	0.563000	0.77884	CAA	SP110	-	NULL	ENSG00000135899		0.458	SP110-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	SP110	HGNC	protein_coding	OTTHUMT00000332414.1	184	0.00	0	G	NM_080424		231067385	231067385	-1	no_errors	ENST00000258381	ensembl	human	known	69_37n	missense	210	18.60	48	SNP	0.000	C
SP4	6671	genome.wustl.edu	37	7	21469372	21469372	+	Nonsense_Mutation	SNP	C	C	T	rs1042848		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:21469372C>T	ENST00000222584.3	+	3	807	c.589C>T	c.(589-591)Cag>Tag	p.Q197*		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	197			Q -> K (in dbSNP:rs1042848). {ECO:0000269|PubMed:1454515}.		regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|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)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						GGGTCAAATTCAGCTCATTTC	0.408																																						dbGAP											0													78.0	76.0	77.0					7																	21469372		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.589C>T	7.37:g.21469372C>T	ENSP00000222584:p.Gln197*	Somatic		WXS	Illumina GAIIx	Phase_IV	O60402|Q32M52	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q197*	ENST00000222584.3	37	c.589	CCDS5373.1	7	.	.	.	.	.	.	.	.	.	.	C	36	5.916014	0.97099	.	.	ENSG00000105866	ENST00000222584	.	.	.	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	18.0115	0.89225	0.0:1.0:0.0:0.0	.	.	.	.	X	197	.	ENSP00000222584:Q197X	Q	+	1	0	SP4	21435897	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.320000	0.79064	2.482000	0.83794	0.655000	0.94253	CAG	SP4	-	NULL	ENSG00000105866		0.408	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SP4	HGNC	protein_coding	OTTHUMT00000211617.2	36	0.00	0	C	NM_003112		21469372	21469372	+1	no_errors	ENST00000222584	ensembl	human	known	69_37n	nonsense	40	16.67	8	SNP	1.000	T
SPAG1	6674	genome.wustl.edu	37	8	101196269	101196269	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:101196269G>C	ENST00000388798.2	+	6	765	c.574G>C	c.(574-576)Gag>Cag	p.E192Q	Y_RNA_ENST00000362797.1_RNA|SPAG1_ENST00000251809.3_Missense_Mutation_p.E192Q|SPAG1_ENST00000520643.1_Missense_Mutation_p.E192Q|SPAG1_ENST00000520508.1_Missense_Mutation_p.E192Q	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	192					axonemal dynein complex assembly (GO:0070286)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		GTCTAAAATTGAGACAAGAAT	0.274																																						dbGAP											0													47.0	48.0	48.0					8																	101196269		2202	4290	6492	-	-	-	SO:0001583	missense	0			AF311312	CCDS34930.1	8q22	2014-01-21			ENSG00000104450	ENSG00000104450		"""Tetratricopeptide (TTC) repeat domain containing"""	11212	protein-coding gene	gene with protein product		603395				16368546	Standard	NM_172218		Approved	SP75, FLJ32920, HSD-3.8, TPIS, CT140	uc003yjh.2	Q07617	OTTHUMG00000164706	ENST00000388798.2:c.574G>C	8.37:g.101196269G>C	ENSP00000373450:p.Glu192Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NP70|B3KQ58|G3XAM3|Q7Z5G1	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E192Q	ENST00000388798.2	37	c.574	CCDS34930.1	8	.	.	.	.	.	.	.	.	.	.	G	11.02	1.515313	0.27123	.	.	ENSG00000104450	ENST00000520643;ENST00000251809;ENST00000520508;ENST00000388798	T;T;T;T	0.63417	2.79;-0.04;2.79;-0.04	5.66	5.66	0.87406	.	0.255560	0.38058	N	0.001837	T	0.73481	0.3592	M	0.68317	2.08	0.38061	D	0.93607	D;P	0.76494	0.999;0.681	P;B	0.61874	0.895;0.368	T	0.76828	-0.2815	10	0.52906	T	0.07	-30.4507	11.9225	0.52799	0.0804:0.0:0.9196:0.0	.	192;192	Q07617;G3XAM3	SPAG1_HUMAN;.	Q	192	ENSP00000427716:E192Q;ENSP00000251809:E192Q;ENSP00000428070:E192Q;ENSP00000373450:E192Q	ENSP00000251809:E192Q	E	+	1	0	SPAG1	101265445	1.000000	0.71417	1.000000	0.80357	0.395000	0.30598	2.703000	0.47110	2.665000	0.90641	0.561000	0.74099	GAG	SPAG1	-	NULL	ENSG00000104450		0.274	SPAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG1	HGNC	protein_coding	OTTHUMT00000379853.2	71	0.00	0	G	NM_172218		101196269	101196269	+1	no_errors	ENST00000251809	ensembl	human	known	69_37n	missense	36	56.63	47	SNP	1.000	C
SPAG4	6676	genome.wustl.edu	37	20	34206844	34206844	+	Splice_Site	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:34206844G>C	ENST00000374273.3	+	8	829		c.e8-1			NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4						spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|motile cilium (GO:0031514)	structural molecule activity (GO:0005198)			NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			CCTCCTTGCAGAGAGTGGCCA	0.592																																						dbGAP											0													86.0	82.0	84.0					20																	34206844		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF043344	CCDS13259.1	20q11.2	2010-04-23			ENSG00000061656	ENSG00000061656			11214	protein-coding gene	gene with protein product	"""acrosomal protein ACR55"", ""Sad1 and UNC84 domain containing 4"", ""cancer/testis antigen 127"""	603038				9691178, 10373309	Standard	NM_003116		Approved	SUN4, CT127	uc002xdb.1	Q9NPE6	OTTHUMG00000032352	ENST00000374273.3:c.718-1G>C	20.37:g.34206844G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O43648	Splice_Site	SNP	-	e8-1	ENST00000374273.3	37	c.718-1	CCDS13259.1	20	.	.	.	.	.	.	.	.	.	.	G	17.41	3.382203	0.61845	.	.	ENSG00000061656	ENST00000374273;ENST00000454819	.	.	.	4.67	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2572	0.60085	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SPAG4	33670258	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	4.235000	0.58666	2.590000	0.87494	0.462000	0.41574	.	SPAG4	-	-	ENSG00000061656		0.592	SPAG4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	SPAG4	HGNC	protein_coding	OTTHUMT00000078896.1	83	0.00	0	G	NM_003116	Intron	34206844	34206844	+1	no_errors	ENST00000374273	ensembl	human	known	69_37n	splice_site	105	21.05	28	SNP	1.000	C
SPAG4	6676	genome.wustl.edu	37	20	34207631	34207631	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:34207631G>A	ENST00000374273.3	+	10	1152	c.1040G>A	c.(1039-1041)gGa>gAa	p.G347E		NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	347	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.				spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|motile cilium (GO:0031514)	structural molecule activity (GO:0005198)			NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			GAGCACACCGGAGGAGCCAAC	0.622																																						dbGAP											0													40.0	42.0	41.0					20																	34207631		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF043344	CCDS13259.1	20q11.2	2010-04-23			ENSG00000061656	ENSG00000061656			11214	protein-coding gene	gene with protein product	"""acrosomal protein ACR55"", ""Sad1 and UNC84 domain containing 4"", ""cancer/testis antigen 127"""	603038				9691178, 10373309	Standard	NM_003116		Approved	SUN4, CT127	uc002xdb.1	Q9NPE6	OTTHUMG00000032352	ENST00000374273.3:c.1040G>A	20.37:g.34207631G>A	ENSP00000363391:p.Gly347Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	O43648	Missense_Mutation	SNP	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like	p.G347E	ENST00000374273.3	37	c.1040	CCDS13259.1	20	.	.	.	.	.	.	.	.	.	.	G	15.32	2.798130	0.50208	.	.	ENSG00000061656	ENST00000374273;ENST00000430878	D;T	0.82255	-1.59;0.99	4.66	2.72	0.32119	Sad1/UNC-like, C-terminal (2);	0.388659	0.28921	N	0.013714	T	0.80082	0.4558	M	0.74881	2.28	0.23376	N	0.997803	B	0.16603	0.018	B	0.20767	0.031	T	0.72676	-0.4221	10	0.87932	D	0	-2.7294	6.8953	0.24253	0.2086:0.0:0.7914:0.0	.	347	Q9NPE6	SPAG4_HUMAN	E	347;42	ENSP00000363391:G347E;ENSP00000399231:G42E	ENSP00000363391:G347E	G	+	2	0	SPAG4	33671045	0.155000	0.22806	0.442000	0.26870	0.977000	0.68977	1.347000	0.33975	0.573000	0.29400	0.561000	0.74099	GGA	SPAG4	-	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like	ENSG00000061656		0.622	SPAG4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	SPAG4	HGNC	protein_coding	OTTHUMT00000078896.1	26	0.00	0	G	NM_003116		34207631	34207631	+1	no_errors	ENST00000374273	ensembl	human	known	69_37n	missense	24	27.27	9	SNP	0.343	A
SPAG6	9576	genome.wustl.edu	37	10	22678134	22678134	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:22678134G>T	ENST00000376624.3	+	7	1040	c.898G>T	c.(898-900)Gac>Tac	p.D300Y	RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000313311.6_Missense_Mutation_p.D300Y|SPAG6_ENST00000376603.2_Missense_Mutation_p.D376Y|SPAG6_ENST00000376601.1_Intron|SPAG6_ENST00000538630.1_Missense_Mutation_p.D275Y	NM_001253855.1|NM_012443.3	NP_001240784.1|NP_036575.1	O75602	SPAG6_HUMAN	sperm associated antigen 6	300					cell projection organization (GO:0030030)|spermatid development (GO:0007286)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						TGCCGTGATTGACTGCATTGG	0.488																																						dbGAP											0													180.0	151.0	161.0					10																	22678134		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF079363	CCDS7139.1, CCDS7140.1, CCDS58071.1, CCDS73072.1	10p12.31	2014-01-21			ENSG00000077327	ENSG00000077327		"""Armadillo repeat containing"""	11215	protein-coding gene	gene with protein product	"""axoneme central apparatus protein"""	605730				10493827	Standard	NM_012443		Approved	Repro-SA-1, pf16, CT141	uc001iri.3	O75602	OTTHUMG00000017808	ENST00000376624.3:c.898G>T	10.37:g.22678134G>T	ENSP00000365811:p.Asp300Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1I8|B4DXZ4|Q5VUX5|Q5VUX6|Q5VUX7|Q6FI74|Q8NHQ6	Missense_Mutation	SNP	pfam_Armadillo,pfam_HEAT,pfam_26S_Psome_nonATP_su5,superfamily_ARM-type_fold,smart_Armadillo	p.D376Y	ENST00000376624.3	37	c.1126	CCDS7139.1	10	.	.	.	.	.	.	.	.	.	.	G	26.2	4.712983	0.89112	.	.	ENSG00000077327	ENST00000376624;ENST00000376603;ENST00000538630;ENST00000313311	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	5.74	5.74	0.90152	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85557	0.5724	M	0.88181	2.935	0.80722	D	1	D;D;D;D	0.89917	0.999;0.998;1.0;0.999	D;D;D;D	0.76071	0.957;0.987;0.987;0.957	D	0.87476	0.2417	10	0.87932	D	0	-26.9865	19.9238	0.97097	0.0:0.0:1.0:0.0	.	275;376;300;300	B4DXZ4;O75602-3;O75602-2;O75602	.;.;.;SPAG6_HUMAN	Y	300;376;275;300	ENSP00000365811:D300Y;ENSP00000365788:D376Y;ENSP00000441325:D275Y;ENSP00000323599:D300Y	ENSP00000323599:D300Y	D	+	1	0	SPAG6	22718140	1.000000	0.71417	0.311000	0.25182	0.941000	0.58515	9.549000	0.98106	2.712000	0.92718	0.650000	0.86243	GAC	SPAG6	-	superfamily_ARM-type_fold,smart_Armadillo	ENSG00000077327		0.488	SPAG6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG6	HGNC	protein_coding	OTTHUMT00000047187.1	117	0.00	0	G			22678134	22678134	+1	no_errors	ENST00000376603	ensembl	human	known	69_37n	missense	87	23.68	27	SNP	1.000	T
SPAG7	9552	genome.wustl.edu	37	17	4862849	4862849	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:4862849C>T	ENST00000206020.3	-	7	731	c.664G>A	c.(664-666)Gag>Aag	p.E222K	SPAG7_ENST00000573366.1_Missense_Mutation_p.E171K|SPAG7_ENST00000575142.1_3'UTR	NM_004890.2	NP_004881.2	O75391	SPAG7_HUMAN	sperm associated antigen 7	222						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1)	10						GGCGGCAACTCTTCCCCACTC	0.617																																						dbGAP											0													68.0	70.0	70.0					17																	4862849		1936	4136	6072	-	-	-	SO:0001583	missense	0			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.664G>A	17.37:g.4862849C>T	ENSP00000206020:p.Glu222Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96EU5	Missense_Mutation	SNP	pfam_R3H_ss-bd,smart_R3H_ss-bd,pirsf_Sperm-assoc_antigen_PAG7,pfscan_R3H_ss-bd	p.E222K	ENST00000206020.3	37	c.664	CCDS42240.1	17	.	.	.	.	.	.	.	.	.	.	C	20.5	4.008580	0.75046	.	.	ENSG00000091640	ENST00000206020	.	.	.	5.26	5.26	0.73747	.	0.279606	0.33732	N	0.004603	T	0.40398	0.1115	N	0.08118	0	0.44469	D	0.997401	B	0.27416	0.178	B	0.29176	0.099	T	0.31806	-0.9930	9	0.37606	T	0.19	-14.0605	16.4689	0.84094	0.0:1.0:0.0:0.0	.	222	O75391	SPAG7_HUMAN	K	222	.	ENSP00000206020:E222K	E	-	1	0	SPAG7	4803572	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.768000	0.68858	2.753000	0.94483	0.650000	0.86243	GAG	SPAG7	-	pirsf_Sperm-assoc_antigen_PAG7	ENSG00000091640		0.617	SPAG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG7	HGNC	protein_coding	OTTHUMT00000438747.1	30	0.00	0	C	NM_004890		4862849	4862849	-1	no_errors	ENST00000206020	ensembl	human	known	69_37n	missense	25	32.43	12	SNP	1.000	T
SPANXN5	494197	genome.wustl.edu	37	X	52826372	52826372	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:52826372G>C	ENST00000375511.3	-	1	769	c.17C>G	c.(16-18)tCa>tGa	p.S6*		NM_001009616.3	NP_001009616.1	Q5MJ07	SPXN5_HUMAN	SPANX family, member N5	6										large_intestine(1)|lung(5)|skin(2)	8	Ovarian(276;0.236)					ATTGGTGCTTGAAGTGGGCTT	0.468																																						dbGAP											0													280.0	232.0	249.0					X																	52826372		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS35295.1	Xp11.22	2009-03-25				ENSG00000204363			33178	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 10"""	300668				14973187, 17012309	Standard	NM_001009616		Approved	SPANX-N5, CT11.10	uc004drc.1	Q5MJ07		ENST00000375511.3:c.17C>G	X.37:g.52826372G>C	ENSP00000364661:p.Ser6*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_SPANX_prot	p.S6*	ENST00000375511.3	37	c.17	CCDS35295.1	X	.	.	.	.	.	.	.	.	.	.	g	37	6.080194	0.97267	.	.	ENSG00000204363	ENST00000375511	.	.	.	0.137	0.137	0.14787	.	.	.	.	.	.	.	.	.	.	.	0.58432	A	0.999997	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	.	.	.	.	.	.	.	X	6	.	ENSP00000364661:S6X	S	-	2	0	SPANXN5	52843097	0.275000	0.24201	0.081000	0.20488	0.082000	0.17680	0.756000	0.26419	0.276000	0.22118	0.280000	0.19369	TCA	SPANXN5	-	pfam_SPANX_prot	ENSG00000204363		0.468	SPANXN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPANXN5	HGNC	protein_coding	OTTHUMT00000056690.2	381	0.00	0	G	NM_001009616		52826372	52826372	-1	no_errors	ENST00000375511	ensembl	human	known	69_37n	nonsense	385	19.79	95	SNP	0.082	C
SPARC	6678	genome.wustl.edu	37	5	151045926	151045926	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:151045926C>T	ENST00000231061.4	-	8	1043	c.730G>A	c.(730-732)Gac>Aac	p.D244N	SPARC_ENST00000537849.1_5'Flank	NM_003118.3	NP_003109.1	P09486	SPRC_HUMAN	secreted protein, acidic, cysteine-rich (osteonectin)	244					blood coagulation (GO:0007596)|bone development (GO:0060348)|cellular response to growth factor stimulus (GO:0071363)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|inner ear development (GO:0048839)|lung development (GO:0030324)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|regulation of cell morphogenesis (GO:0022604)|response to cadmium ion (GO:0046686)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to gravity (GO:0009629)|response to L-ascorbic acid (GO:0033591)|response to lead ion (GO:0010288)|response to lipopolysaccharide (GO:0032496)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nuclear matrix (GO:0016363)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|platelet alpha granule membrane (GO:0031092)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)			central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)		TCTTACCCGTCAATGGGGTGC	0.577																																						dbGAP											0													78.0	73.0	75.0					5																	151045926		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4318.1	5q31-q33	2012-10-02			ENSG00000113140	ENSG00000113140			11219	protein-coding gene	gene with protein product	"""cysteine-rich protein"", ""osteonectin"""	182120		ON		2838412, 3410046	Standard	NM_003118		Approved		uc003lui.4	P09486	OTTHUMG00000130122	ENST00000231061.4:c.730G>A	5.37:g.151045926C>T	ENSP00000231061:p.Asp244Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DQH9|Q6IBK4	Missense_Mutation	SNP	pfam_SPARC/Testican_Ca-bd-dom,pfam_Follistatin/Osteonectin_EGF,pfam_Prot_inh_Kazal,pfam_Kazal-type_dom,smart_Fol_N,smart_Prot_inh_Kazal	p.D244N	ENST00000231061.4	37	c.730	CCDS4318.1	5	.	.	.	.	.	.	.	.	.	.	C	23.6	4.435208	0.83885	.	.	ENSG00000113140	ENST00000231061	T	0.35048	1.33	5.64	5.64	0.86602	SPARC/Testican, calcium-binding domain (1);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.63593	0.2524	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65928	-0.6049	10	0.87932	D	0	.	19.698	0.96034	0.0:1.0:0.0:0.0	.	244	P09486	SPRC_HUMAN	N	244	ENSP00000231061:D244N	ENSP00000231061:D244N	D	-	1	0	SPARC	151026119	1.000000	0.71417	0.934000	0.37439	0.082000	0.17680	7.234000	0.78134	2.652000	0.90054	0.655000	0.94253	GAC	SPARC	-	pfam_SPARC/Testican_Ca-bd-dom	ENSG00000113140		0.577	SPARC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPARC	HGNC	protein_coding	OTTHUMT00000252430.1	64	0.00	0	C	NM_003118		151045926	151045926	-1	no_errors	ENST00000231061	ensembl	human	known	69_37n	missense	50	20.63	13	SNP	1.000	T
SPATA1	100505741	genome.wustl.edu	37	1	84988083	84988083	+	RNA	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:84988083C>G	ENST00000370638.2	+	0	419							Q5VX52	SPAT1_HUMAN	spermatogenesis associated 1											breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|prostate(1)	10				Epithelial(280;4.36e-10)|all cancers(265;7.1e-09)|BRCA - Breast invasive adenocarcinoma(282;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(397;0.00286)|KIRC - Kidney renal clear cell carcinoma(1967;0.0111)		AGTATCTCCTCAACTTACTTT	0.313																																						dbGAP											0													73.0	81.0	78.0					1																	84988083		2203	4300	6503	-	-	-			0			AF306347		1p22.3	2011-05-24			ENSG00000122432	ENSG00000122432			14682	protein-coding gene	gene with protein product							Standard	XM_005275883		Approved	SP-2	uc021opb.1	Q5VX52	OTTHUMG00000009924		1.37:g.84988083C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJU9|Q0VDJ9|Q0VDK0|Q6P386|Q9HAR4	RNA	SNP	-	NULL	ENST00000370638.2	37	NULL		1																																																																																			SPATA1	-	-	ENSG00000122432		0.313	SPATA1-007	KNOWN	basic	processed_transcript	SPATA1	HGNC	pseudogene	OTTHUMT00000314701.1	96	0.00	0	C	NM_022354		84988083	84988083	+1	no_errors	ENST00000370638	ensembl	human	known	69_37n	rna	44	20.00	11	SNP	1.000	G
SPATA13	221178	genome.wustl.edu	37	13	24860454	24860454	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr13:24860454C>T	ENST00000382095.4	+	5	936	c.529C>T	c.(529-531)Ctg>Ttg	p.L177L	SPATA13_ENST00000409126.1_Silent_p.L99L|SPATA13_ENST00000382108.3_Silent_p.L802L|SPATA13_ENST00000343003.6_Silent_p.L121L|SPATA13_ENST00000424834.2_Silent_p.L802L|SPATA13_ENST00000399949.2_Silent_p.L99L|RP11-307N16.6_ENST00000382141.4_Silent_p.L680L	NM_153023.2	NP_694568.1	Q96N96	SPT13_HUMAN	spermatogenesis associated 13	177	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell migration (GO:0016477)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		CATCCAGGTTCTGGAAGCCTC	0.582																																						dbGAP											0													75.0	72.0	73.0					13																	24860454		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK055770	CCDS9305.1, CCDS53857.1, CCDS66517.1, CCDS66518.1, CCDS73553.1	13q12.13	2013-01-10			ENSG00000182957	ENSG00000182957		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	23222	protein-coding gene	gene with protein product		613324					Standard	NM_001286795		Approved	FLJ31208, ARHGEF29	uc021rhg.1	Q96N96	OTTHUMG00000016578	ENST00000382095.4:c.529C>T	13.37:g.24860454C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A2VEA9|A6NF85|B4DQB1|B4DSZ0|B4DVM8|J3KPJ7|J3KQH2|Q5VX68|Q6ZML1|Q8N873|Q8TEK6	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.S717F	ENST00000382095.4	37	c.2150	CCDS9305.1	13	.	.	.	.	.	.	.	.	.	.	C	9.466	1.094477	0.20471	.	.	ENSG00000182957	ENST00000424834	D	0.82711	-1.64	5.25	4.42	0.53409	.	.	.	.	.	D	0.85102	0.5620	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.83299	-0.0029	5	.	.	.	.	11.3233	0.49435	0.0:0.8475:0.0:0.1525	.	.	.	.	F	839	ENSP00000398560:S839F	.	S	+	2	0	SPATA13	23758454	0.451000	0.25705	0.997000	0.53966	0.964000	0.63967	1.086000	0.30853	1.227000	0.43598	-0.137000	0.14449	TCT	SPATA13	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000182957		0.582	SPATA13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SPATA13	HGNC	protein_coding	OTTHUMT00000044180.2	41	0.00	0	C	NM_153023		24860454	24860454	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000382141	ensembl	human	known	69_37n	missense	37	28.85	15	SNP	0.869	T
SPATA2	9825	genome.wustl.edu	37	20	48523239	48523239	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:48523239C>G	ENST00000422556.1	-	3	829	c.480G>C	c.(478-480)aaG>aaC	p.K160N	SPATA2_ENST00000543716.1_Missense_Mutation_p.K23N|SPATA2_ENST00000289431.5_Missense_Mutation_p.K160N	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	160					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			AGGAGACCATCTTCACCTGGA	0.542																																						dbGAP											0													63.0	61.0	62.0					20																	48523239		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018300	CCDS13422.1	20q13.13	2014-06-13			ENSG00000158480	ENSG00000158480			14681	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 145"""	607662					Standard	NM_001135773		Approved	KIAA0757, PD1, tamo, PPP1R145	uc002xuw.3	Q9UM82	OTTHUMG00000032704	ENST00000422556.1:c.480G>C	20.37:g.48523239C>G	ENSP00000416799:p.Lys160Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P626|O94857	Missense_Mutation	SNP	NULL	p.K160N	ENST00000422556.1	37	c.480	CCDS13422.1	20	.	.	.	.	.	.	.	.	.	.	C	15.15	2.746759	0.49257	.	.	ENSG00000158480	ENST00000289431;ENST00000422556;ENST00000543716	T;T;T	0.64085	-0.08;-0.08;-0.08	5.61	2.27	0.28462	.	0.061036	0.64402	D	0.000006	T	0.69441	0.3111	M	0.62723	1.935	0.41146	D	0.985994	D	0.71674	0.998	D	0.66351	0.943	T	0.69680	-0.5080	10	0.56958	D	0.05	-42.2366	6.5403	0.22377	0.15:0.64:0.0:0.21	.	160	Q9UM82	SPAT2_HUMAN	N	160;160;23	ENSP00000289431:K160N;ENSP00000416799:K160N;ENSP00000438855:K23N	ENSP00000289431:K160N	K	-	3	2	SPATA2	47956646	1.000000	0.71417	1.000000	0.80357	0.679000	0.39708	0.722000	0.25925	1.367000	0.46095	0.591000	0.81541	AAG	SPATA2	-	NULL	ENSG00000158480		0.542	SPATA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA2	HGNC	protein_coding	OTTHUMT00000079658.1	13	0.00	0	C	NM_006038		48523239	48523239	-1	no_errors	ENST00000289431	ensembl	human	known	69_37n	missense	31	27.91	12	SNP	0.996	G
SPATA24	202051	genome.wustl.edu	37	5	138737435	138737435	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:138737435C>T	ENST00000451821.2	-	4	400	c.394G>A	c.(394-396)Gag>Aag	p.E132K	SPATA24_ENST00000509959.1_Missense_Mutation_p.E110K|SPATA24_ENST00000507779.2_Missense_Mutation_p.E129K			Q86W54	SPA24_HUMAN	spermatogenesis associated 24	0					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)										GCACGGGCCTCCCGCCTACCA	0.547																																						dbGAP											0													76.0	65.0	68.0					5																	138737435		692	1591	2283	-	-	-	SO:0001583	missense	0			AK098740	CCDS47274.1	5q31.2	2014-02-12	2009-09-30		ENSG00000170469	ENSG00000170469			27322	protein-coding gene	gene with protein product	"""coiled-coil domain containing 161"""					16146721	Standard	NM_194296		Approved	T6441, CCDC161	uc003lel.4	Q86W54	OTTHUMG00000163388	ENST00000451821.2:c.394G>A	5.37:g.138737435C>T	ENSP00000400524:p.Glu132Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.E132K	ENST00000451821.2	37	c.394		5	.	.	.	.	.	.	.	.	.	.	C	13.48	2.250173	0.39797	.	.	ENSG00000170469	ENST00000509959;ENST00000451821;ENST00000507779	.	.	.	4.92	4.04	0.47022	.	.	.	.	.	T	0.31104	0.0786	.	.	.	0.23095	N	0.998305	B	0.14805	0.011	B	0.15484	0.013	T	0.08764	-1.0706	7	0.51188	T	0.08	.	9.2973	0.37824	0.0:0.9:0.0:0.1	.	132	Q86W54-2	.	K	110;132;129	.	ENSP00000400524:E132K	E	-	1	0	SPATA24	138765334	1.000000	0.71417	1.000000	0.80357	0.448000	0.32197	2.175000	0.42491	2.555000	0.86185	0.655000	0.94253	GAG	SPATA24	-	NULL	ENSG00000170469		0.547	SPATA24-003	KNOWN	basic	protein_coding	SPATA24	HGNC	protein_coding	OTTHUMT00000372986.1	38	0.00	0	C	NM_194296		138737435	138737435	-1	no_errors	ENST00000451821	ensembl	human	known	69_37n	missense	44	24.14	14	SNP	1.000	T
SPATA3	130560	genome.wustl.edu	37	2	231867407	231867407	+	Nonsense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:231867407C>G	ENST00000452881.1	+	3	590	c.482C>G	c.(481-483)tCa>tGa	p.S161*	SPATA3_ENST00000409956.1_3'UTR|SPATA3_ENST00000424440.1_Nonsense_Mutation_p.S161*|SPATA3_ENST00000433428.2_Nonsense_Mutation_p.S161*|SPATA3_ENST00000455816.1_Nonsense_Mutation_p.S161*			Q8NHX4	SPTA3_HUMAN	spermatogenesis associated 3	161										endometrium(2)|lung(1)	3						AGAAAATCTTCAAGAAAACCC	0.537																																						dbGAP											0													92.0	92.0	92.0					2																	231867407		692	1591	2283	-	-	-	SO:0001587	stop_gained	0			AY032925	CCDS2481.1	2q37.1	2008-02-05			ENSG00000173699	ENSG00000173699			17884	protein-coding gene	gene with protein product							Standard	NM_139073		Approved	TSARG1	uc010zmd.2	Q8NHX4	OTTHUMG00000133221	ENST00000452881.1:c.482C>G	2.37:g.231867407C>G	ENSP00000388895:p.Ser161*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86WX5|Q8N9Y6	Nonsense_Mutation	SNP	NULL	p.S161*	ENST00000452881.1	37	c.482	CCDS2481.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.39|13.39	2.222281|2.222281	0.39300|0.39300	.|.	.|.	ENSG00000173699|ENSG00000173699	ENST00000440792|ENST00000424440;ENST00000452881;ENST00000433428;ENST00000455816;ENST00000355662;ENST00000423134	.|.	.|.	.|.	3.93|3.93	2.08|2.08	0.27032|0.27032	.|.	.|2.815260	.|0.01583	.|N	.|0.021189	T|.	0.53012|.	0.1770|.	.|.	.|.	.|.	0.41925|0.41925	A|A	0.990531|0.990531	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.50591|.	-0.8810|.	4|.	0.41790|0.87932	T|D	0.15|0	0.0323|0.0323	10.3003|10.3003	0.43648|0.43648	0.0:0.5407:0.4593:0.0|0.0:0.5407:0.4593:0.0	.|.	.|.	.|.	.|.	E|X	70|161;161;161;161;152;52	.|.	ENSP00000404510:Q70E|ENSP00000347884:S152X	Q|S	+|+	1|2	0|0	SPATA3|SPATA3	231575651|231575651	0.604000|0.604000	0.26932|0.26932	0.006000|0.006000	0.13384|0.13384	0.003000|0.003000	0.03518|0.03518	1.004000|1.004000	0.29822|0.29822	0.593000|0.593000	0.29745|0.29745	-0.176000|-0.176000	0.13171|0.13171	CAA|TCA	SPATA3	-	NULL	ENSG00000173699		0.537	SPATA3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SPATA3	HGNC	protein_coding	OTTHUMT00000256956.2	72	0.00	0	C	NM_139073		231867407	231867407	+1	no_errors	ENST00000424440	ensembl	human	known	69_37n	nonsense	80	16.67	16	SNP	0.011	G
SPATA5L1	79029	genome.wustl.edu	37	15	45695561	45695561	+	Silent	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:45695561C>A	ENST00000305560.6	+	1	1033	c.934C>A	c.(934-936)Cgg>Agg	p.R312R	SPATA5L1_ENST00000559860.1_Silent_p.R312R|GATM_ENST00000458245.5_5'Flank	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	312						cytoplasm (GO:0005737)	ATP binding (GO:0005524)			kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		GTGTCCCCAGCGGGGCAGTCG	0.697																																						dbGAP											0													12.0	14.0	14.0					15																	45695561		2185	4276	6461	-	-	-	SO:0001819	synonymous_variant	0			AK023232	CCDS10123.1	15q15.1	2010-04-21			ENSG00000171763	ENSG00000171763		"""ATPases / AAA-type"""	28762	protein-coding gene	gene with protein product						12477932	Standard	NM_024063		Approved	MGC5347, FLJ12286	uc001zve.3	Q9BVQ7	OTTHUMG00000131425	ENST00000305560.6:c.934C>A	15.37:g.45695561C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JHR5|Q9H8W7|Q9HA41	Silent	SNP	pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase	p.R312	ENST00000305560.6	37	c.934	CCDS10123.1	15																																																																																			SPATA5L1	-	pfam_ATPase_AAA_core,smart_AAA+_ATPase	ENSG00000171763		0.697	SPATA5L1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SPATA5L1	HGNC	protein_coding	OTTHUMT00000254218.1	11	0.00	0	C	NM_024063		45695561	45695561	+1	no_errors	ENST00000305560	ensembl	human	known	69_37n	silent	5	58.33	7	SNP	1.000	A
SPATA7	55812	genome.wustl.edu	37	14	88862531	88862531	+	Silent	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:88862531G>T	ENST00000393545.4	+	4	511	c.222G>T	c.(220-222)gtG>gtT	p.V74V	SPATA7_ENST00000554102.1_3'UTR|SPATA7_ENST00000556553.1_Silent_p.V42V|SPATA7_ENST00000356583.5_Silent_p.V42V|SPATA7_ENST00000045347.7_Silent_p.V74V	NM_018418.4	NP_060888.2	Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	74			V -> M (in dbSNP:rs3179969). {ECO:0000269|PubMed:11230166, ECO:0000269|PubMed:12736779}.		response to stimulus (GO:0050896)|visual perception (GO:0007601)					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						CAGTAAGCGTGAGTACCAGCA	0.284																																						dbGAP											0													59.0	63.0	62.0					14																	88862531		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AF144487	CCDS9883.1, CCDS32132.1	14q31.3	2011-02-17				ENSG00000042317			20423	protein-coding gene	gene with protein product		609868	"""Leber congenital amaurosis 3"""	LCA3		9799089, 19268277	Standard	NM_018418		Approved	HSD3	uc001xwq.3	Q9P0W8		ENST00000393545.4:c.222G>T	14.37:g.88862531G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5BKY5|Q8WX30|Q96HF3|Q9H0X0|Q9P0W7	Silent	SNP	NULL	p.V74	ENST00000393545.4	37	c.222	CCDS9883.1	14																																																																																			SPATA7	-	NULL	ENSG00000042317		0.284	SPATA7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPATA7	HGNC	protein_coding	OTTHUMT00000410172.1	91	0.00	0	G			88862531	88862531	+1	no_errors	ENST00000393545	ensembl	human	known	69_37n	silent	65	10.96	8	SNP	0.160	T
SPDYC	387778	genome.wustl.edu	37	11	64938826	64938826	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:64938826G>A	ENST00000377185.2	+	2	137	c.55G>A	c.(55-57)Gag>Aag	p.E19K	AP003068.18_ENST00000534819.1_RNA	NM_001008778.1	NP_001008778.1			speedy/RINGO cell cycle regulator family member C											breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						CATCTCCTATGAGATGAGTGA	0.587																																						dbGAP											0													95.0	95.0	95.0					11																	64938826		2201	4297	6498	-	-	-	SO:0001583	missense	0			AY820305	CCDS31606.1	11q13.1	2013-05-08	2013-05-08		ENSG00000204710	ENSG00000204710		"""Speedy homologs"""	32681	protein-coding gene	gene with protein product		614030	"""speedy homolog C (Xenopus laevis)"""			15611625	Standard	NM_001008778		Approved	Ringo2	uc010rnz.2	Q5MJ68	OTTHUMG00000165611	ENST00000377185.2:c.55G>A	11.37:g.64938826G>A	ENSP00000366390:p.Glu19Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Cell_cycle_regulatory_Spy1	p.E19K	ENST00000377185.2	37	c.55	CCDS31606.1	11	.	.	.	.	.	.	.	.	.	.	G	22.2	4.253352	0.80135	.	.	ENSG00000204710	ENST00000377185	.	.	.	4.31	3.37	0.38596	.	.	.	.	.	T	0.23492	0.0568	L	0.29908	0.895	0.22639	N	0.998905	B	0.32031	0.352	B	0.28638	0.092	T	0.06643	-1.0815	8	0.27785	T	0.31	.	8.3234	0.32142	0.1127:0.0:0.8873:0.0	.	19	Q5MJ68	SPDYC_HUMAN	K	19	.	ENSP00000366390:E19K	E	+	1	0	SPDYC	64695402	0.923000	0.31300	0.912000	0.35992	0.021000	0.10359	1.711000	0.37930	2.236000	0.73375	0.655000	0.94253	GAG	SPDYC	-	NULL	ENSG00000204710		0.587	SPDYC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPDYC	HGNC	protein_coding	OTTHUMT00000385299.1	50	0.00	0	G	NM_001008778		64938826	64938826	+1	no_errors	ENST00000377185	ensembl	human	known	69_37n	missense	75	18.48	17	SNP	0.764	A
SPDYE4	388333	genome.wustl.edu	37	17	8659711	8659711	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:8659711C>G	ENST00000328794.6	-	3	560	c.384G>C	c.(382-384)ctG>ctC	p.L128L		NM_001128076.1	NP_001121548.1	A6NLX3	SPDE4_HUMAN	speedy/RINGO cell cycle regulator family member E4	128										breast(1)|endometrium(2)|kidney(1)	4						CTGACACCCTCAGGTCTTTGT	0.527																																						dbGAP											0													173.0	151.0	158.0					17																	8659711		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			BC146949	CCDS45609.1	17p13.1	2013-05-08	2013-05-08			ENSG00000183318		"""Speedy homologs"""	35463	protein-coding gene	gene with protein product			"""speedy homolog E4 (Xenopus laevis)"""				Standard	NM_001128076		Approved		uc010cnz.1	A6NLX3		ENST00000328794.6:c.384G>C	17.37:g.8659711C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RUZ6	Nonstop_Mutation	SNP	pfam_Cell_cycle_regulatory_Spy1	p.*57S	ENST00000328794.6	37	c.170	CCDS45609.1	17																																																																																			SPDYE4	-	pfam_Cell_cycle_regulatory_Spy1	ENSG00000183318		0.527	SPDYE4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SPDYE4	HGNC	protein_coding	OTTHUMT00000442494.1	202	0.00	0	C	NM_001128076		8659711	8659711	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000580999	ensembl	human	putative	69_37n	nonstop	106	15.20	19	SNP	0.010	G
SPEN	23013	genome.wustl.edu	37	1	16247410	16247410	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:16247410G>A	ENST00000375759.3	+	9	1885	c.1681G>A	c.(1681-1683)Gaa>Aaa	p.E561K		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	561	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				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)		TCTCTACAATGAAATTGAATA	0.398																																						dbGAP											0													100.0	99.0	100.0					1																	16247410		2203	4300	6503	-	-	-	SO:0001583	missense	0				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.1681G>A	1.37:g.16247410G>A	ENSP00000364912:p.Glu561Lys	Somatic		WXS	Illumina GAIIx	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.E561K	ENST00000375759.3	37	c.1681	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.298860	0.81025	.	.	ENSG00000065526	ENST00000375759	T	0.05717	3.4	5.57	5.57	0.84162	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	.	.	.	.	T	0.14874	0.0359	N	0.20881	0.62	0.58432	D	0.999998	D	0.64830	0.994	D	0.64506	0.926	T	0.02852	-1.1102	9	0.48119	T	0.1	-7.9964	19.8968	0.96969	0.0:0.0:1.0:0.0	.	561	Q96T58	MINT_HUMAN	K	561	ENSP00000364912:E561K	ENSP00000364912:E561K	E	+	1	0	SPEN	16119997	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.250000	0.78287	2.779000	0.95612	0.591000	0.81541	GAA	SPEN	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000065526		0.398	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	94	0.00	0	G	NM_015001		16247410	16247410	+1	no_errors	ENST00000375759	ensembl	human	known	69_37n	missense	67	19.28	16	SNP	1.000	A
SPEN	23013	genome.wustl.edu	37	1	16254734	16254734	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:16254734G>C	ENST00000375759.3	+	11	2203	c.1999G>C	c.(1999-2001)Gac>Cac	p.D667H		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	667	Arg-rich.|Tyr-rich.				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)		TTACCAAGGAGACTACTATGA	0.438																																						dbGAP											0													134.0	130.0	131.0					1																	16254734		2203	4300	6503	-	-	-	SO:0001583	missense	0				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.1999G>C	1.37:g.16254734G>C	ENSP00000364912:p.Asp667His	Somatic		WXS	Illumina GAIIx	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.D667H	ENST00000375759.3	37	c.1999	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.557493	0.65425	.	.	ENSG00000065526	ENST00000375759	T	0.10668	2.85	4.84	4.84	0.62591	.	.	.	.	.	T	0.19446	0.0467	L	0.32530	0.975	0.80722	D	1	D	0.64830	0.994	P	0.56700	0.804	T	0.00785	-1.1567	9	0.49607	T	0.09	-7.7299	18.1431	0.89647	0.0:0.0:1.0:0.0	.	667	Q96T58	MINT_HUMAN	H	667	ENSP00000364912:D667H	ENSP00000364912:D667H	D	+	1	0	SPEN	16127321	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.202000	0.95026	2.514000	0.84764	0.563000	0.77884	GAC	SPEN	-	NULL	ENSG00000065526		0.438	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	44	0.00	0	G	NM_015001		16254734	16254734	+1	no_errors	ENST00000375759	ensembl	human	known	69_37n	missense	34	33.33	17	SNP	1.000	C
SPHKAP	80309	genome.wustl.edu	37	2	228860376	228860376	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:228860376C>G	ENST00000392056.3	-	8	4529	c.4483G>C	c.(4483-4485)Gaa>Caa	p.E1495Q	SPHKAP_ENST00000344657.5_Missense_Mutation_p.E1495Q	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1495						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GTGGAGGCTTCAGCCTCTGGT	0.552																																						dbGAP											0													53.0	55.0	54.0					2																	228860376		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.4483G>C	2.37:g.228860376C>G	ENSP00000375909:p.Glu1495Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	pfam_AKAP_110_C	p.E1495Q	ENST00000392056.3	37	c.4483	CCDS46537.1	2	.	.	.	.	.	.	.	.	.	.	C	12.65	2.000262	0.35320	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.13307	2.6;2.61	6.06	5.17	0.71159	.	0.370826	0.30723	N	0.009001	T	0.34890	0.0913	M	0.70595	2.14	0.37765	D	0.926466	P;D	0.62365	0.595;0.991	B;P	0.61275	0.123;0.886	T	0.35599	-0.9782	10	0.59425	D	0.04	.	16.4522	0.83994	0.0:0.8687:0.1313:0.0	.	1495;1495	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	Q	1495	ENSP00000375909:E1495Q;ENSP00000339886:E1495Q	ENSP00000339886:E1495Q	E	-	1	0	SPHKAP	228568620	1.000000	0.71417	0.100000	0.21137	0.011000	0.07611	3.495000	0.53280	1.552000	0.49463	0.655000	0.94253	GAA	SPHKAP	-	NULL	ENSG00000153820		0.552	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHKAP	HGNC	protein_coding	OTTHUMT00000331750.1	93	0.00	0	C	NM_030623		228860376	228860376	-1	no_errors	ENST00000392056	ensembl	human	known	69_37n	missense	83	20.95	22	SNP	0.817	G
SPHKAP	80309	genome.wustl.edu	37	2	228884192	228884192	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:228884192C>T	ENST00000392056.3	-	7	1424	c.1378G>A	c.(1378-1380)Gat>Aat	p.D460N	SPHKAP_ENST00000344657.5_Missense_Mutation_p.D460N	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	460						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GGGGCAGCATCACTGCCATCT	0.517																																						dbGAP											0													87.0	86.0	87.0					2																	228884192		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.1378G>A	2.37:g.228884192C>T	ENSP00000375909:p.Asp460Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	pfam_AKAP_110_C	p.D460N	ENST00000392056.3	37	c.1378	CCDS46537.1	2	.	.	.	.	.	.	.	.	.	.	C	11.38	1.620823	0.28889	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.14766	2.48;2.49	6.03	4.25	0.50352	.	0.224693	0.43919	N	0.000516	T	0.13713	0.0332	L	0.44542	1.39	0.33982	D	0.648125	B;B	0.25272	0.028;0.122	B;B	0.24848	0.012;0.056	T	0.08086	-1.0739	10	0.54805	T	0.06	.	12.1062	0.53813	0.0:0.8639:0.0:0.1361	.	460;460	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	N	460	ENSP00000375909:D460N;ENSP00000339886:D460N	ENSP00000339886:D460N	D	-	1	0	SPHKAP	228592436	0.999000	0.42202	0.004000	0.12327	0.065000	0.16274	4.430000	0.59907	0.895000	0.36342	0.655000	0.94253	GAT	SPHKAP	-	NULL	ENSG00000153820		0.517	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHKAP	HGNC	protein_coding	OTTHUMT00000331750.1	61	0.00	0	C	NM_030623		228884192	228884192	-1	no_errors	ENST00000392056	ensembl	human	known	69_37n	missense	55	22.54	16	SNP	0.721	T
SPICE1	152185	genome.wustl.edu	37	3	113169342	113169342	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:113169342G>C	ENST00000295872.4	-	15	2423	c.2164C>G	c.(2164-2166)Cta>Gta	p.L722V		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	722					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						CCTGGTGTTAGAGACTGTGCT	0.363																																						dbGAP											0													93.0	89.0	90.0					3																	113169342		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.2164C>G	3.37:g.113169342G>C	ENSP00000295872:p.Leu722Val	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DN72|Q8WUX6	Missense_Mutation	SNP	NULL	p.L722V	ENST00000295872.4	37	c.2164	CCDS2973.1	3	.	.	.	.	.	.	.	.	.	.	G	9.997	1.232294	0.22626	.	.	ENSG00000163611	ENST00000295872	T	0.33216	1.42	5.35	1.12	0.20585	.	0.881249	0.09756	N	0.759971	T	0.21590	0.0520	L	0.43152	1.355	0.09310	N	1	B;B	0.29646	0.004;0.253	B;B	0.28232	0.003;0.087	T	0.27971	-1.0058	10	0.38643	T	0.18	-0.4815	2.2174	0.03963	0.1731:0.1514:0.5197:0.1558	.	618;722	B3KX77;Q8N0Z3	.;SPICE_HUMAN	V	722	ENSP00000295872:L722V	ENSP00000295872:L722V	L	-	1	2	SPICE1	114652032	0.003000	0.15002	0.017000	0.16124	0.329000	0.28539	0.187000	0.16998	0.291000	0.22468	0.557000	0.71058	CTA	SPICE1	-	NULL	ENSG00000163611		0.363	SPICE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPICE1	HGNC	protein_coding	OTTHUMT00000354177.2	111	0.00	0	G	NM_144718		113169342	113169342	-1	no_errors	ENST00000295872	ensembl	human	known	69_37n	missense	100	15.97	19	SNP	0.002	C
SPNS1	83985	genome.wustl.edu	37	16	28986584	28986584	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:28986584G>A	ENST00000311008.11	+	1	489	c.112G>A	c.(112-114)Gag>Aag	p.E38K	SPNS1_ENST00000334536.8_Missense_Mutation_p.E38K|RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000323081.8_5'UTR|SPNS1_ENST00000565975.1_Missense_Mutation_p.E83K|SPNS1_ENST00000352260.7_Missense_Mutation_p.E38K|RP11-264B17.4_ENST00000567209.1_RNA	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	38					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrial inner membrane (GO:0005743)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						GAAGTCCGAGGAGCCCGAGGT	0.697																																						dbGAP											0													15.0	17.0	16.0					16																	28986584		2180	4278	6458	-	-	-	SO:0001583	missense	0			BC006156	CCDS10646.1, CCDS45452.1, CCDS45453.1, CCDS45454.1	16p11.2	2007-04-12			ENSG00000169682	ENSG00000169682			30621	protein-coding gene	gene with protein product		612583				11340170, 12815463	Standard	NM_032038		Approved	HSpin1, nrs, SPINL, PP2030, SPIN1, LAT	uc010vdi.1	Q9H2V7	OTTHUMG00000131762	ENST00000311008.11:c.112G>A	16.37:g.28986584G>A	ENSP00000309945:p.Glu38Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDM9|Q6P182|Q71RB5|Q7L541|Q86VU7|Q8N953|Q8TCS5|Q9BRN5	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.E38K	ENST00000311008.11	37	c.112	CCDS10646.1	16	.	.	.	.	.	.	.	.	.	.	G	16.74	3.207203	0.58343	.	.	ENSG00000169682	ENST00000311008;ENST00000334536;ENST00000352260	T;T;T	0.31510	1.94;1.56;1.49	4.38	3.38	0.38709	Major facilitator superfamily domain, general substrate transporter (1);	0.420521	0.21901	N	0.067452	T	0.16128	0.0388	N	0.19112	0.55	0.30655	N	0.755041	B;B;B;B	0.17268	0.003;0.003;0.021;0.011	B;B;B;B	0.17098	0.002;0.002;0.017;0.004	T	0.21827	-1.0234	10	0.06099	T	0.92	.	10.1037	0.42519	0.0:0.2045:0.7955:0.0	.	38;38;38;38	Q9H2V7-3;Q9H2V7;Q9H2V7-2;Q9H2V7-5	.;SPNS1_HUMAN;.;.	K	38	ENSP00000309945:E38K;ENSP00000335494:E38K;ENSP00000306050:E38K	ENSP00000309945:E38K	E	+	1	0	SPNS1	28894085	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	2.432000	0.44784	1.127000	0.42034	0.491000	0.48974	GAG	SPNS1	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000169682		0.697	SPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPNS1	HGNC	protein_coding	OTTHUMT00000254690.2	38	0.00	0	G	NM_032038		28986584	28986584	+1	no_errors	ENST00000311008	ensembl	human	known	69_37n	missense	21	30.00	9	SNP	0.999	A
SPNS3	201305	genome.wustl.edu	37	17	4356369	4356369	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:4356369G>A	ENST00000355530.2	+	8	1262	c.982G>A	c.(982-984)Gaa>Aaa	p.E328K	SPNS3_ENST00000576069.1_3'UTR|SPNS3_ENST00000333476.2_Missense_Mutation_p.E201K	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	328					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						CTTGGGGGCAGAAGCTGCGAG	0.597																																						dbGAP											0													108.0	102.0	104.0					17																	4356369		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11045.1	17p13.2	2014-08-12			ENSG00000182557	ENSG00000182557			28433	protein-coding gene	gene with protein product		611701					Standard	NM_182538		Approved	MGC29671	uc002fxt.3	Q6ZMD2	OTTHUMG00000177737	ENST00000355530.2:c.982G>A	17.37:g.4356369G>A	ENSP00000347721:p.Glu328Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IZ31	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.E328K	ENST00000355530.2	37	c.982	CCDS11045.1	17	.	.	.	.	.	.	.	.	.	.	G	10.41	1.341257	0.24339	.	.	ENSG00000182557	ENST00000355530;ENST00000333476	T;T	0.57273	0.41;0.41	4.68	3.63	0.41609	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.819286	0.11194	N	0.589604	T	0.44498	0.1296	L	0.39633	1.23	0.25819	N	0.984305	B;B	0.11235	0.004;0.003	B;B	0.17722	0.019;0.014	T	0.21724	-1.0237	10	0.29301	T	0.29	-15.7768	12.3295	0.55031	0.0:0.172:0.828:0.0	.	201;328	Q6ZMD2-2;Q6ZMD2	.;SPNS3_HUMAN	K	328;201	ENSP00000347721:E328K;ENSP00000333207:E201K	ENSP00000333207:E201K	E	+	1	0	SPNS3	4303118	0.921000	0.31238	0.999000	0.59377	0.576000	0.36127	1.775000	0.38584	2.351000	0.79841	0.442000	0.29010	GAA	SPNS3	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000182557		0.597	SPNS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPNS3	HGNC	protein_coding	OTTHUMT00000438793.1	64	0.00	0	G	NM_182538		4356369	4356369	+1	no_errors	ENST00000355530	ensembl	human	known	69_37n	missense	29	56.72	38	SNP	0.756	A
SPON2	10417	genome.wustl.edu	37	4	1161404	1161404	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:1161404C>G	ENST00000290902.5	-	6	1184	c.852G>C	c.(850-852)tcG>tcC	p.S284S	SPON2_ENST00000431380.1_Silent_p.S284S|RP11-20I20.4_ENST00000609548.1_RNA	NM_012445.3	NP_036577	Q9BUD6	SPON2_HUMAN	spondin 2, extracellular matrix protein	284	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		GTCCCCAGGACGACCACAGGG	0.657											OREG0016030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													59.0	65.0	63.0					4																	1161404		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB027466	CCDS3347.1	4p16.3	2008-07-29			ENSG00000159674	ENSG00000159674			11253	protein-coding gene	gene with protein product	"""Mindin"", ""M-spondin"""	605918				10512675, 15094111	Standard	NM_012445		Approved	DIL1	uc003gco.4	Q9BUD6	OTTHUMG00000089002	ENST00000290902.5:c.852G>C	4.37:g.1161404C>G		Somatic	593	WXS	Illumina GAIIx	Phase_IV	D3DVN9|Q4W5N4|Q9ULW1	Silent	SNP	pfam_Spondin_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Spondin_N,pfscan_Thrombospondin_1_rpt	p.S284	ENST00000290902.5	37	c.852	CCDS3347.1	4																																																																																			SPON2	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000159674		0.657	SPON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPON2	HGNC	protein_coding	OTTHUMT00000202080.2	23	0.00	0	C			1161404	1161404	-1	no_errors	ENST00000290902	ensembl	human	known	69_37n	silent	12	45.45	10	SNP	0.401	G
SPOPL	339745	genome.wustl.edu	37	2	139308479	139308479	+	Silent	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:139308479G>T	ENST00000280098.4	+	4	586	c.207G>T	c.(205-207)ctG>ctT	p.L69L		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	69	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				negative regulation of protein ubiquitination (GO:0031397)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)		p.L69L(2)		breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		TTAGGTGCCTGAGGGTAAACC	0.383																																						dbGAP											2	Substitution - coding silent(2)	cervix(1)|breast(1)											78.0	82.0	81.0					2																	139308479		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0				CCDS33298.1	2q22.1	2013-01-09			ENSG00000144228	ENSG00000144228		"""BTB/POZ domain containing"""	27934	protein-coding gene	gene with protein product	"""HIB homolog 2"", ""roadkill homolog 2"""						Standard	NM_001001664		Approved	BTBD33	uc002tvh.3	Q6IQ16	OTTHUMG00000153635	ENST00000280098.4:c.207G>T	2.37:g.139308479G>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_BTB_POZ,pfam_MATH,superfamily_TRAF-like,superfamily_BTB/POZ_fold,smart_MATH,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_MATH	p.L69	ENST00000280098.4	37	c.207	CCDS33298.1	2																																																																																			SPOPL	-	pfam_MATH,superfamily_TRAF-like,smart_MATH,pfscan_MATH	ENSG00000144228		0.383	SPOPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPOPL	HGNC	protein_coding	OTTHUMT00000331897.1	85	0.00	0	G			139308479	139308479	+1	no_errors	ENST00000280098	ensembl	human	known	69_37n	silent	84	14.29	14	SNP	1.000	T
SPPL3	121665	genome.wustl.edu	37	12	121204081	121204081	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:121204081C>T	ENST00000353487.2	-	10	1571	c.1068G>A	c.(1066-1068)acG>acA	p.T356T		NM_139015.4	NP_620584.2	Q8TCT6	SPPL3_HUMAN	signal peptide peptidase like 3	357						Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|rough endoplasmic reticulum (GO:0005791)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|protein homodimerization activity (GO:0042803)					all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AATAGGCCATCGTGAGGAGTG	0.527																																						dbGAP											0													44.0	37.0	39.0					12																	121204081		2203	4297	6500	-	-	-	SO:0001819	synonymous_variant	0				CCDS9208.1	12q24.31	2012-02-21			ENSG00000157837	ENSG00000157837			30424	protein-coding gene	gene with protein product	"""intramembrane protease 2"", ""presenilin-like protein 4"""	608240				12139484	Standard	NM_139015		Approved	IMP2, PSL4, MGC90402, MGC126674, MGC126676, DKFZP586C1324	uc001tzd.3	Q8TCT6	OTTHUMG00000169232	ENST00000353487.2:c.1068G>A	12.37:g.121204081C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3MJ04|Q8TAU4|Q96DD9	Silent	SNP	pfam_Peptidase_A22B_SPP,smart_Peptidase_A22	p.T356	ENST00000353487.2	37	c.1068	CCDS9208.1	12																																																																																			SPPL3	-	pfam_Peptidase_A22B_SPP,smart_Peptidase_A22	ENSG00000157837		0.527	SPPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPPL3	HGNC	protein_coding	OTTHUMT00000402980.2	44	0.00	0	C	NM_139015		121204081	121204081	-1	no_errors	ENST00000353487	ensembl	human	known	69_37n	silent	66	20.48	17	SNP	0.174	T
SPRY1	10252	genome.wustl.edu	37	4	124323256	124323256	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:124323256G>C	ENST00000394339.2	+	2	850	c.510G>C	c.(508-510)ttG>ttC	p.L170F	SPRY1_ENST00000339241.1_Missense_Mutation_p.L170F	NM_001258039.1|NM_005841.2	NP_001244968.1|NP_005832.1	O43609	SPY1_HUMAN	sprouty homolog 1, antagonist of FGF signaling (Drosophila)	170					epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						AGGGTTCCTTGAAAGAGGACC	0.527																																						dbGAP											0													110.0	103.0	105.0					4																	124323256		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF041037	CCDS3731.1	4q	2009-04-17	2001-11-28		ENSG00000164056	ENSG00000164056			11269	protein-coding gene	gene with protein product		602465	"""sprouty (Drosophila) homolog 1 (antagonist of FGF signaling)"""			9458049, 15962011	Standard	NM_001258038		Approved	hSPRY1	uc003ifa.4	O43609	OTTHUMG00000133071	ENST00000394339.2:c.510G>C	4.37:g.124323256G>C	ENSP00000377871:p.Leu170Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DNX6|Q6PNE0	Missense_Mutation	SNP	pfam_Sprouty	p.L170F	ENST00000394339.2	37	c.510	CCDS3731.1	4	.	.	.	.	.	.	.	.	.	.	G	5.057	0.196252	0.09599	.	.	ENSG00000164056	ENST00000339241;ENST00000507703;ENST00000394339	T;T;T	0.56444	0.46;1.43;0.46	5.06	3.26	0.37387	.	0.585853	0.14885	N	0.292750	T	0.38161	0.1030	L	0.43152	1.355	0.40866	D	0.983879	P	0.44877	0.845	B	0.37943	0.261	T	0.22382	-1.0218	9	.	.	.	-3.2422	5.451	0.16565	0.2334:0.1502:0.6164:0.0	.	170	O43609	SPY1_HUMAN	F	170	ENSP00000343785:L170F;ENSP00000421036:L170F;ENSP00000377871:L170F	.	L	+	3	2	SPRY1	124542706	0.989000	0.36119	1.000000	0.80357	0.996000	0.88848	1.418000	0.34782	1.363000	0.46019	0.561000	0.74099	TTG	SPRY1	-	NULL	ENSG00000164056		0.527	SPRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRY1	HGNC	protein_coding	OTTHUMT00000256711.1	50	0.00	0	G			124323256	124323256	+1	no_errors	ENST00000339241	ensembl	human	known	69_37n	missense	81	23.58	25	SNP	0.997	C
SPRY3	10251	genome.wustl.edu	37	X	155004068	155004068	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:155004068G>A	ENST00000302805.2	+	2	966	c.535G>A	c.(535-537)Gag>Aag	p.E179K		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	179	Cys-rich.|SPR. {ECO:0000255|PROSITE- ProRule:PRU00572}.				multicellular organismal development (GO:0007275)|regulation of signal transduction (GO:0009966)	cytoplasm (GO:0005737)|membrane (GO:0016020)						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TTGCTCTGCTGAGAGCCTCCT	0.587																																						dbGAP											0													189.0	178.0	182.0					X																	155004068		2203	4296	6499	-	-	-	SO:0001583	missense	0			AF041038	CCDS14769.4	Xq28 and Yq12	2008-02-05	2001-11-28		ENSG00000168939	ENSG00000168939		"""Pseudoautosomal regions / PAR2"""	11271	protein-coding gene	gene with protein product	"""antagonist of FGF signaling"""	300531	"""sprouty (Drosophila) homolog 2"""			9458049	Standard	NM_005840		Approved	HSPRY3	uc004fnq.1	O43610	OTTHUMG00000022675	ENST00000302805.2:c.535G>A	X.37:g.155004068G>A	ENSP00000302978:p.Glu179Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0H8	Missense_Mutation	SNP	pfam_Sprouty	p.E179K	ENST00000302805.2	37	c.535	CCDS14769.4	X	.	.	.	.	.	.	.	.	.	.	G	14.10	2.434005	0.43224	.	.	ENSG00000168939	ENST00000302805	T	0.63096	-0.02	2.71	2.71	0.32032	.	0.062831	0.64402	D	0.000008	T	0.53254	0.1785	.	.	.	0.09310	N	1	P	0.36010	0.532	B	0.37650	0.255	T	0.53201	-0.8472	9	0.62326	D	0.03	-32.891	10.5274	0.44957	0.0:0.0:1.0:0.0	.	179	O43610	SPY3_HUMAN	K	179	ENSP00000302978:E179K	ENSP00000302978:E179K	E	+	1	0	SPRY3	154657262	1.000000	0.71417	0.998000	0.56505	0.949000	0.60115	4.223000	0.58587	1.366000	0.46076	0.279000	0.19357	GAG	SPRY3	-	pfam_Sprouty	ENSG00000168939		0.587	SPRY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRY3	HGNC	protein_coding	OTTHUMT00000058823.2	102	0.00	0	G	NM_005840		155004068	155004068	+1	no_errors	ENST00000302805	ensembl	human	known	69_37n	missense	103	19.53	25	SNP	0.996	A
SPRYD3	84926	genome.wustl.edu	37	12	53467114	53467114	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:53467114C>T	ENST00000301463.4	-	6	735	c.649G>A	c.(649-651)Gag>Aag	p.E217K	SPRYD3_ENST00000547837.1_Missense_Mutation_p.E254K	NM_032840.2	NP_116229.1	Q8NCJ5	SPRY3_HUMAN	SPRY domain containing 3	217										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						CATTCATCCTCGTAACTGTCC	0.632																																						dbGAP											0													115.0	84.0	95.0					12																	53467114		2203	4298	6501	-	-	-	SO:0001583	missense	0			AK074694	CCDS8845.1	12q13.13	2006-11-29		2006-02-02		ENSG00000167778			25920	protein-coding gene	gene with protein product						14702039	Standard	NM_032840		Approved	FLJ14800	uc001sbt.2	Q8NCJ5	OTTHUMG00000170101	ENST00000301463.4:c.649G>A	12.37:g.53467114C>T	ENSP00000301463:p.Glu217Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EG99|Q96SK5	Missense_Mutation	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	p.E217K	ENST00000301463.4	37	c.649	CCDS8845.1	12	.	.	.	.	.	.	.	.	.	.	C	27.4	4.826179	0.90955	.	.	ENSG00000167778	ENST00000301463;ENST00000547837	.	.	.	5.17	4.27	0.50696	.	0.187234	0.44902	D	0.000404	T	0.44623	0.1302	L	0.34521	1.04	0.49582	D	0.999805	B	0.26147	0.143	B	0.17098	0.017	T	0.33497	-0.9866	9	0.25751	T	0.34	.	13.8147	0.63283	0.0:0.8453:0.1547:0.0	.	217	Q8NCJ5	SPRY3_HUMAN	K	217;254	.	ENSP00000301463:E217K	E	-	1	0	SPRYD3	51753381	1.000000	0.71417	0.911000	0.35937	0.754000	0.42855	7.291000	0.78721	1.549000	0.49425	0.650000	0.86243	GAG	SPRYD3	-	NULL	ENSG00000167778		0.632	SPRYD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRYD3	HGNC	protein_coding	OTTHUMT00000407264.1	42	0.00	0	C	NM_032840		53467114	53467114	-1	no_errors	ENST00000301463	ensembl	human	known	69_37n	missense	85	20.56	22	SNP	0.998	T
SPTA1	6708	genome.wustl.edu	37	1	158595954	158595954	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:158595954G>C	ENST00000368147.4	-	42	6072	c.5892C>G	c.(5890-5892)ctC>ctG	p.L1964L		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1964					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCAGAAGAGTGAGGAAGTCAC	0.393																																						dbGAP											0													121.0	120.0	120.0					1																	158595954		1915	4119	6034	-	-	-	SO:0001819	synonymous_variant	0			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.5892C>G	1.37:g.158595954G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.L1964	ENST00000368147.4	37	c.5892	CCDS41423.1	1																																																																																			SPTA1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000163554		0.393	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	128	0.00	0	G	NM_003126		158595954	158595954	-1	no_errors	ENST00000368148	ensembl	human	known	69_37n	silent	120	15.49	22	SNP	0.674	C
SPTA1	6708	genome.wustl.edu	37	1	158607965	158607965	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:158607965G>C	ENST00000368147.4	-	36	5227	c.5047C>G	c.(5047-5049)Cag>Gag	p.Q1683E		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1683					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTCACAATCTGATCAACGTTG	0.423																																						dbGAP											0													89.0	83.0	85.0					1																	158607965		1886	4112	5998	-	-	-	SO:0001583	missense	0			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.5047C>G	1.37:g.158607965G>C	ENSP00000357129:p.Gln1683Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.Q1683E	ENST00000368147.4	37	c.5047	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	G	7.713	0.695487	0.15106	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.46063	0.88;0.88	5.36	3.36	0.38483	.	0.000000	0.30809	N	0.008838	T	0.10121	0.0248	N	0.25144	0.715	0.37838	D	0.928958	B	0.06786	0.001	B	0.10450	0.005	T	0.13737	-1.0498	10	0.02654	T	1	.	12.0969	0.53761	0.0:0.1388:0.7337:0.1275	.	1683	P02549	SPTA1_HUMAN	E	1683	ENSP00000357130:Q1683E;ENSP00000357129:Q1683E	ENSP00000357129:Q1683E	Q	-	1	0	SPTA1	156874589	1.000000	0.71417	0.883000	0.34634	0.240000	0.25518	4.799000	0.62517	1.453000	0.47775	0.591000	0.81541	CAG	SPTA1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000163554		0.423	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	73	0.00	0	G	NM_003126		158607965	158607965	-1	no_errors	ENST00000368148	ensembl	human	known	69_37n	missense	93	13.89	15	SNP	0.952	C
SPTA1	6708	genome.wustl.edu	37	1	158632585	158632585	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:158632585C>G	ENST00000368147.4	-	17	2551	c.2371G>C	c.(2371-2373)Gac>Cac	p.D791H		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	791			D -> E (in EL2; Jendouba; dbSNP:rs7418956). {ECO:0000269|PubMed:1638030}.		actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGGAGAAGGTCTAAGAGCTTC	0.493																																						dbGAP											0													95.0	98.0	97.0					1																	158632585		1941	4140	6081	-	-	-	SO:0001583	missense	0			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2371G>C	1.37:g.158632585C>G	ENSP00000357129:p.Asp791His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.D791H	ENST00000368147.4	37	c.2371	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.683922	0.47991	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.37058	1.22;1.22	4.41	4.41	0.53225	.	0.000000	0.33916	N	0.004430	T	0.56992	0.2023	M	0.87971	2.92	0.53005	D	0.999961	D	0.89917	1.0	D	0.83275	0.996	T	0.64381	-0.6421	10	0.59425	D	0.04	.	13.8662	0.63590	0.0:1.0:0.0:0.0	.	791	P02549	SPTA1_HUMAN	H	791	ENSP00000357130:D791H;ENSP00000357129:D791H	ENSP00000357129:D791H	D	-	1	0	SPTA1	156899209	1.000000	0.71417	0.316000	0.25252	0.086000	0.17979	6.820000	0.75267	2.270000	0.75569	0.655000	0.94253	GAC	SPTA1	-	NULL	ENSG00000163554		0.493	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	96	0.00	0	C	NM_003126		158632585	158632585	-1	no_errors	ENST00000368148	ensembl	human	known	69_37n	missense	114	17.99	25	SNP	0.998	G
SPTAN1	6709	genome.wustl.edu	37	9	131346738	131346738	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:131346738C>T	ENST00000372731.4	+	17	2481	c.2371C>T	c.(2371-2373)Cgg>Tgg	p.R791W	SPTAN1_ENST00000372739.3_Missense_Mutation_p.R791W|SPTAN1_ENST00000358161.5_Missense_Mutation_p.R791W	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	791					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GCAGCTCTTCCGGGATGTTGA	0.562																																					NSCLC(120;833 1744 2558 35612 37579)	dbGAP											0													50.0	50.0	50.0					9																	131346738		2203	4300	6503	-	-	-	SO:0001583	missense	0			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.2371C>T	9.37:g.131346738C>T	ENSP00000361816:p.Arg791Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF-hand,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_Ca-bd,prints_Spectrin_alpha_SH3,prints_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain	p.R791W	ENST00000372731.4	37	c.2371	CCDS6905.1	9	.	.	.	.	.	.	.	.	.	.	C	16.00	2.997358	0.54147	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.54675	0.56;0.56;0.56	5.63	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.64371	0.2592	L	0.55834	1.745	0.80722	D	1	B;D;D;D;D	0.89917	0.011;0.998;1.0;0.986;0.999	B;P;D;P;D	0.76575	0.005;0.828;0.988;0.599;0.954	T	0.65450	-0.6165	10	0.59425	D	0.04	.	8.7651	0.34698	0.1488:0.7758:0.0:0.0755	.	791;791;791;791;791	A6NG51;B4DTV8;Q13813-3;Q13813-2;Q13813	.;.;.;.;SPTA2_HUMAN	W	791	ENSP00000350882:R791W;ENSP00000361816:R791W;ENSP00000361824:R791W	ENSP00000350882:R791W	R	+	1	2	SPTAN1	130386559	1.000000	0.71417	0.997000	0.53966	0.579000	0.36224	3.351000	0.52232	1.384000	0.46424	0.561000	0.74099	CGG	SPTAN1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000197694		0.562	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTAN1	HGNC	protein_coding	OTTHUMT00000054472.1	59	0.00	0	C	NM_003127		131346738	131346738	+1	no_errors	ENST00000358161	ensembl	human	known	69_37n	missense	72	20.88	19	SNP	1.000	T
SPTAN1	6709	genome.wustl.edu	37	9	131371503	131371503	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:131371503G>C	ENST00000372731.4	+	36	4808	c.4698G>C	c.(4696-4698)tgG>tgC	p.W1566C	SPTAN1_ENST00000372739.3_Missense_Mutation_p.W1566C|SPTAN1_ENST00000358161.5_Missense_Mutation_p.W1566C	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1566					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TTGAGGCTTGGATCAGTGAAA	0.483																																					NSCLC(120;833 1744 2558 35612 37579)	dbGAP											0													111.0	101.0	105.0					9																	131371503		2203	4300	6503	-	-	-	SO:0001583	missense	0			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.4698G>C	9.37:g.131371503G>C	ENSP00000361816:p.Trp1566Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF-hand,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_Ca-bd,prints_Spectrin_alpha_SH3,prints_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain	p.W1566C	ENST00000372731.4	37	c.4698	CCDS6905.1	9	.	.	.	.	.	.	.	.	.	.	G	20.7	4.037400	0.75617	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.70749	-0.51;-0.51;-0.51	5.91	5.02	0.67125	.	0.000000	0.85682	D	0.000000	D	0.89008	0.6593	H	0.95850	3.73	0.80722	D	1	D;D;D	0.89917	1.0;0.99;0.992	D;P;P	0.97110	1.0;0.73;0.823	D	0.92476	0.5989	10	0.87932	D	0	.	15.1972	0.73100	0.0675:0.0:0.9325:0.0	.	1546;1566;1566	Q13813-3;Q13813-2;Q13813	.;.;SPTA2_HUMAN	C	1566;1566;1566;1546	ENSP00000350882:W1566C;ENSP00000361816:W1566C;ENSP00000361824:W1566C	ENSP00000350882:W1566C	W	+	3	0	SPTAN1	130411324	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.869000	0.99810	1.515000	0.48885	0.655000	0.94253	TGG	SPTAN1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000197694		0.483	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTAN1	HGNC	protein_coding	OTTHUMT00000054472.1	60	0.00	0	G	NM_003127		131371503	131371503	+1	no_errors	ENST00000358161	ensembl	human	known	69_37n	missense	93	13.08	14	SNP	1.000	C
SPTB	6710	genome.wustl.edu	37	14	65259777	65259777	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:65259777C>G	ENST00000389721.5	-	13	2636	c.2604G>C	c.(2602-2604)gaG>gaC	p.E868D	SPTB_ENST00000389720.3_Missense_Mutation_p.E868D|SPTB_ENST00000542895.1_Missense_Mutation_p.E868D|SPTB_ENST00000556626.1_Missense_Mutation_p.E868D|SPTB_ENST00000389722.3_Missense_Mutation_p.E868D	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	868					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCAGCCACTTCTCCTTCTCTC	0.602																																						dbGAP											0													65.0	52.0	56.0					14																	65259777		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.2604G>C	14.37:g.65259777C>G	ENSP00000374371:p.Glu868Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15510|Q15519	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.E868D	ENST00000389721.5	37	c.2604	CCDS32100.1	14	.	.	.	.	.	.	.	.	.	.	C	14.63	2.592600	0.46214	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	5.23	2.38	0.29361	.	0.224319	0.45126	D	0.000398	T	0.44993	0.1320	M	0.67953	2.075	0.39297	D	0.964838	B;B	0.17667	0.006;0.023	B;B	0.23574	0.042;0.047	T	0.51236	-0.8731	10	0.51188	T	0.08	.	10.2325	0.43264	0.0:0.7793:0.0:0.2207	.	868;872	P11277;Q59FP5	SPTB1_HUMAN;.	D	872;868;868;868;868;868	ENSP00000374372:E868D;ENSP00000451752:E868D;ENSP00000374371:E868D;ENSP00000443882:E868D;ENSP00000374370:E868D	ENSP00000374370:E868D	E	-	3	2	SPTB	64329530	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.292000	0.33342	1.194000	0.43101	0.555000	0.69702	GAG	SPTB	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000070182		0.602	SPTB-004	KNOWN	basic|CCDS	protein_coding	SPTB	HGNC	protein_coding	OTTHUMT00000414080.1	19	0.00	0	C			65259777	65259777	-1	no_errors	ENST00000389722	ensembl	human	known	69_37n	missense	12	33.33	6	SNP	1.000	G
SPTBN5	51332	genome.wustl.edu	37	15	42180140	42180140	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:42180140G>C	ENST00000320955.6	-	5	872	c.645C>G	c.(643-645)ctC>ctG	p.L215L		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	215	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GGGCATGGATGAGGGCATTGA	0.607																																						dbGAP											0													37.0	39.0	39.0					15																	42180140		2035	4170	6205	-	-	-	SO:0001819	synonymous_variant	0			AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.645C>G	15.37:g.42180140G>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.L215	ENST00000320955.6	37	c.645		15																																																																																			SPTBN5	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000137877		0.607	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	SPTBN5	HGNC	protein_coding	OTTHUMT00000420237.1	34	0.00	0	G	NM_016642		42180140	42180140	-1	no_errors	ENST00000320955	ensembl	human	known	69_37n	silent	25	47.92	23	SNP	1.000	C
SPTLC3	55304	genome.wustl.edu	37	20	13029656	13029656	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:13029656C>T	ENST00000399002.2	+	2	455	c.181C>T	c.(181-183)Cat>Tat	p.H61Y	SPTLC3_ENST00000476791.1_3'UTR|SPTLC3_ENST00000378194.4_Missense_Mutation_p.H61Y	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	61					small molecule metabolic process (GO:0044281)|sphingoid biosynthetic process (GO:0046520)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						AGCACCCCTTCATGTTATGGT	0.388																																						dbGAP											0													156.0	163.0	161.0					20																	13029656		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL109983	CCDS13115.2	20p12.1	2011-07-05	2006-12-21	2006-12-21	ENSG00000172296	ENSG00000172296	2.3.1.50		16253	protein-coding gene	gene with protein product		611120	"""chromosome 20 open reading frame 38"", ""serine palmitoyltransferase, long chain base subunit 2-like (aminotransferase 2)"""	C20orf38, SPTLC2L		17023427	Standard	NM_018327		Approved	LCB2B, FLJ11112, hLCB2b	uc002wod.1	Q9NUV7	OTTHUMG00000031899	ENST00000399002.2:c.181C>T	20.37:g.13029656C>T	ENSP00000381968:p.His61Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2I4|B9EK64|Q05DQ8|Q5T1U4|Q9H1L1|Q9H1Z0	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom	p.H61Y	ENST00000399002.2	37	c.181	CCDS13115.2	20	.	.	.	.	.	.	.	.	.	.	C	1.764	-0.486029	0.04352	.	.	ENSG00000172296	ENST00000434210;ENST00000399002;ENST00000378194;ENST00000450297	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	5.63	0.573	0.17363	.	0.111576	0.64402	N	0.000005	T	0.29321	0.0730	N	0.02158	-0.66	0.29460	N	0.857858	B;B	0.18013	0.0;0.025	B;B	0.14023	0.0;0.01	T	0.38499	-0.9658	10	0.02654	T	1	-10.9717	7.8891	0.29667	0.0:0.3055:0.0:0.6945	.	61;61	Q9NUV7;Q9NUV7-2	SPTC3_HUMAN;.	Y	61;61;61;34	ENSP00000389749:H61Y;ENSP00000381968:H61Y;ENSP00000367436:H61Y;ENSP00000409125:H34Y	ENSP00000367436:H61Y	H	+	1	0	SPTLC3	12977656	0.781000	0.28676	0.971000	0.41717	0.835000	0.47333	0.432000	0.21461	0.303000	0.22785	0.655000	0.94253	CAT	SPTLC3	-	NULL	ENSG00000172296		0.388	SPTLC3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTLC3	HGNC	protein_coding	OTTHUMT00000254544.1	105	0.00	0	C	NM_018327		13029656	13029656	+1	no_errors	ENST00000399002	ensembl	human	known	69_37n	missense	118	19.18	28	SNP	0.968	T
SRBD1	55133	genome.wustl.edu	37	2	45620165	45620165	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:45620165C>T	ENST00000263736.4	-	20	2679	c.2617G>A	c.(2617-2619)Gaa>Aaa	p.E873K	SRBD1_ENST00000490133.1_5'UTR|SRBD1_ENST00000535761.1_Missense_Mutation_p.E392K	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	873					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			TGCAATCTTTCTGCAATTTTC	0.393																																						dbGAP											0													380.0	298.0	326.0					2																	45620165		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.2617G>A	2.37:g.45620165C>T	ENSP00000263736:p.Glu873Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53T56|Q96TA4|Q9NW11	Missense_Mutation	SNP	pfam_Tex-like_N,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold-like,superfamily_RuvA_2-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.E873K	ENST00000263736.4	37	c.2617	CCDS1823.1	2	.	.	.	.	.	.	.	.	.	.	C	8.315	0.822946	0.16678	.	.	ENSG00000068784	ENST00000263736;ENST00000535761	T;T	0.32272	1.87;1.46	5.55	4.65	0.58169	Tex RuvX-like domain (1);	0.267779	0.37761	N	0.001954	T	0.16514	0.0397	N	0.20483	0.58	0.30364	N	0.783548	B	0.02656	0.0	B	0.04013	0.001	T	0.05435	-1.0885	10	0.25106	T	0.35	.	5.9928	0.19476	0.0:0.6621:0.1929:0.1451	.	873	Q8N5C6	SRBD1_HUMAN	K	873;392	ENSP00000263736:E873K;ENSP00000441272:E392K	ENSP00000263736:E873K	E	-	1	0	SRBD1	45473669	0.926000	0.31397	1.000000	0.80357	0.933000	0.57130	0.924000	0.28777	2.767000	0.95098	0.563000	0.77884	GAA	SRBD1	-	NULL	ENSG00000068784		0.393	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRBD1	HGNC	protein_coding	OTTHUMT00000250747.3	237	0.00	0	C	NM_018079		45620165	45620165	-1	no_errors	ENST00000263736	ensembl	human	known	69_37n	missense	204	19.69	50	SNP	0.843	T
SRBD1	55133	genome.wustl.edu	37	2	45789820	45789820	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:45789820C>G	ENST00000263736.4	-	10	1443	c.1381G>C	c.(1381-1383)Gaa>Caa	p.E461Q	SRBD1_ENST00000535761.1_5'UTR	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	461					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			CTACAGAATTCATCCTTCACT	0.353																																						dbGAP											0													128.0	124.0	126.0					2																	45789820		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.1381G>C	2.37:g.45789820C>G	ENSP00000263736:p.Glu461Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53T56|Q96TA4|Q9NW11	Missense_Mutation	SNP	pfam_Tex-like_N,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold-like,superfamily_RuvA_2-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.E461Q	ENST00000263736.4	37	c.1381	CCDS1823.1	2	.	.	.	.	.	.	.	.	.	.	C	10.04	1.241792	0.22711	.	.	ENSG00000068784	ENST00000263736	T	0.39229	1.09	5.3	4.42	0.53409	Tex-like domain (1);	0.220646	0.47093	D	0.000243	T	0.30603	0.0770	L	0.35487	1.065	0.80722	D	1	P	0.35272	0.493	B	0.26864	0.074	T	0.13229	-1.0517	10	0.51188	T	0.08	.	14.3208	0.66484	0.0:0.928:0.0:0.072	.	461	Q8N5C6	SRBD1_HUMAN	Q	461	ENSP00000263736:E461Q	ENSP00000263736:E461Q	E	-	1	0	SRBD1	45643324	1.000000	0.71417	0.989000	0.46669	0.091000	0.18340	7.387000	0.79785	1.387000	0.46486	-0.266000	0.10368	GAA	SRBD1	-	NULL	ENSG00000068784		0.353	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRBD1	HGNC	protein_coding	OTTHUMT00000250747.3	107	0.00	0	C	NM_018079		45789820	45789820	-1	no_errors	ENST00000263736	ensembl	human	known	69_37n	missense	98	20.33	25	SNP	1.000	G
SRBD1	55133	genome.wustl.edu	37	2	45800405	45800405	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:45800405C>T	ENST00000263736.4	-	9	1308	c.1246G>A	c.(1246-1248)Gat>Aat	p.D416N		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	416					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			AGAAACTTATCAACATCTTTC	0.368																																						dbGAP											0													120.0	118.0	119.0					2																	45800405		2203	4299	6502	-	-	-	SO:0001583	missense	0			AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.1246G>A	2.37:g.45800405C>T	ENSP00000263736:p.Asp416Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53T56|Q96TA4|Q9NW11	Missense_Mutation	SNP	pfam_Tex-like_N,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold-like,superfamily_RuvA_2-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.D416N	ENST00000263736.4	37	c.1246	CCDS1823.1	2	.	.	.	.	.	.	.	.	.	.	C	13.66	2.302863	0.40795	.	.	ENSG00000068784	ENST00000263736	T	0.46063	0.88	5.44	2.24	0.28232	Tex-like domain (1);	0.487579	0.23668	N	0.045743	T	0.25644	0.0624	N	0.20401	0.57	0.23572	N	0.997384	B	0.06786	0.001	B	0.06405	0.002	T	0.16928	-1.0386	10	0.40728	T	0.16	.	9.4101	0.38487	0.0:0.6505:0.0:0.3495	.	416	Q8N5C6	SRBD1_HUMAN	N	416	ENSP00000263736:D416N	ENSP00000263736:D416N	D	-	1	0	SRBD1	45653909	0.998000	0.40836	0.994000	0.49952	0.995000	0.86356	1.357000	0.34090	0.673000	0.31224	0.561000	0.74099	GAT	SRBD1	-	NULL	ENSG00000068784		0.368	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRBD1	HGNC	protein_coding	OTTHUMT00000250747.3	152	0.00	0	C	NM_018079		45800405	45800405	-1	no_errors	ENST00000263736	ensembl	human	known	69_37n	missense	162	18.59	37	SNP	0.439	T
SRBD1	55133	genome.wustl.edu	37	2	45826704	45826704	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:45826704G>C	ENST00000263736.4	-	4	594	c.532C>G	c.(532-534)Cag>Gag	p.Q178E		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	178					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			AAAGCGGACTGACCAAATGTA	0.443																																						dbGAP											0													309.0	287.0	294.0					2																	45826704		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.532C>G	2.37:g.45826704G>C	ENSP00000263736:p.Gln178Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53T56|Q96TA4|Q9NW11	Missense_Mutation	SNP	pfam_Tex-like_N,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold-like,superfamily_RuvA_2-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.Q178E	ENST00000263736.4	37	c.532	CCDS1823.1	2	.	.	.	.	.	.	.	.	.	.	G	4.437	0.080914	0.08533	.	.	ENSG00000068784	ENST00000263736	T	0.19669	2.13	5.85	4.96	0.65561	.	0.219598	0.31484	N	0.007575	T	0.09158	0.0226	N	0.04880	-0.145	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16070	-1.0415	10	0.07175	T	0.84	.	11.9376	0.52882	0.0:0.269:0.731:0.0	.	178	Q8N5C6	SRBD1_HUMAN	E	178	ENSP00000263736:Q178E	ENSP00000263736:Q178E	Q	-	1	0	SRBD1	45680208	0.463000	0.25799	0.735000	0.30896	0.238000	0.25445	2.419000	0.44671	2.773000	0.95371	0.585000	0.79938	CAG	SRBD1	-	NULL	ENSG00000068784		0.443	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRBD1	HGNC	protein_coding	OTTHUMT00000250747.3	212	0.00	0	G	NM_018079		45826704	45826704	-1	no_errors	ENST00000263736	ensembl	human	known	69_37n	missense	201	22.69	59	SNP	0.987	C
SRC	6714	genome.wustl.edu	37	20	36024662	36024662	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:36024662C>T	ENST00000373578.2	+	8	1000	c.651C>T	c.(649-651)atC>atT	p.I217I	SRC_ENST00000358208.4_Silent_p.I217I|SRC_ENST00000360723.4_Silent_p.I223I|SRC_ENST00000373567.2_Silent_p.I217I|SRC_ENST00000445403.1_Silent_p.I217I|SRC_ENST00000373558.2_Silent_p.I223I	NM_198291.1	NP_938033.1	P12931	SRC_HUMAN	SRC proto-oncogene, non-receptor tyrosine kinase	217	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cellular response to progesterone stimulus (GO:0071393)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|membrane organization (GO:0061024)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of mitochondrial depolarization (GO:0051902)|negative regulation of protein homooligomerization (GO:0032463)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oogenesis (GO:0048477)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of integrin activation (GO:0033625)|positive regulation of podosome assembly (GO:0071803)|positive regulation of protein kinase B signaling (GO:0051897)|progesterone receptor signaling pathway (GO:0050847)|protein autophosphorylation (GO:0046777)|Ras protein signal transduction (GO:0007265)|regulation of bone resorption (GO:0045124)|regulation of caveolin-mediated endocytosis (GO:2001286)|regulation of cell-cell adhesion (GO:0022407)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of epithelial cell migration (GO:0010632)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of protein binding (GO:0043393)|regulation of vascular permeability (GO:0043114)|response to interleukin-1 (GO:0070555)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|T cell costimulation (GO:0031295)|transforming growth factor beta receptor signaling pathway (GO:0007179)|uterus development (GO:0060065)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|ephrin receptor binding (GO:0046875)|growth factor receptor binding (GO:0070851)|heme binding (GO:0020037)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Bosutinib(DB06616)|Dasatinib(DB01254)|Ponatinib(DB08901)	GCTTCTACATCACCTCCCGCA	0.627																																						dbGAP											0													63.0	62.0	63.0					20																	36024662		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF077754	CCDS13294.1	20q12-q13	2014-06-25	2014-06-25		ENSG00000197122	ENSG00000197122		"""SH2 domain containing"""	11283	protein-coding gene	gene with protein product		190090	"""v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog"""	SRC1		2582238	Standard	NM_005417		Approved	ASV, c-src	uc002xgy.3	P12931	OTTHUMG00000032417	ENST00000373578.2:c.651C>T	20.37:g.36024662C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	E1P5V4|Q76P87|Q86VB9|Q9H5A8	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom	p.I223	ENST00000373578.2	37	c.669	CCDS13294.1	20																																																																																			SRC	-	pfam_SH2,smart_SH2,pfscan_SH2	ENSG00000197122		0.627	SRC-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	SRC	HGNC	protein_coding	OTTHUMT00000268142.1	34	0.00	0	C	NM_005417		36024662	36024662	+1	no_errors	ENST00000360723	ensembl	human	known	69_37n	silent	14	44.00	11	SNP	1.000	T
SRCAP	10847	genome.wustl.edu	37	16	30735969	30735969	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:30735969C>G	ENST00000262518.4	+	25	5609	c.5224C>G	c.(5224-5226)Cca>Gca	p.P1742A	SRCAP_ENST00000344771.4_Missense_Mutation_p.P1584A|SRCAP_ENST00000395059.2_Missense_Mutation_p.P1680A	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1742	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			ACCACTGGGTCCAACTCAGAC	0.592																																						dbGAP											0													64.0	62.0	63.0					16																	30735969		2197	4300	6497	-	-	-	SO:0001583	missense	0			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.5224C>G	16.37:g.30735969C>G	ENSP00000262518:p.Pro1742Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like	p.P1742A	ENST00000262518.4	37	c.5224	CCDS10689.2	16	.	.	.	.	.	.	.	.	.	.	C	12.00	1.805260	0.31961	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.93366	-3.21;-2.96;-2.88	5.8	4.83	0.62350	.	0.125321	0.36778	N	0.002414	D	0.85553	0.5723	N	0.24115	0.695	0.32220	N	0.575411	B;P;B	0.36683	0.031;0.565;0.429	B;B;B	0.33690	0.026;0.168;0.081	T	0.82737	-0.0309	10	0.05721	T	0.95	-5.2525	14.5427	0.68008	0.0:0.8524:0.1476:0.0	.	1584;1680;1742	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	A	1742;1680;1584	ENSP00000262518:P1742A;ENSP00000378499:P1680A;ENSP00000343042:P1584A	ENSP00000262518:P1742A	P	+	1	0	SRCAP	30643470	0.000000	0.05858	1.000000	0.80357	0.982000	0.71751	0.196000	0.17176	1.420000	0.47138	0.650000	0.86243	CCA	SRCAP	-	NULL	ENSG00000080603		0.592	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCAP	HGNC	protein_coding	OTTHUMT00000255523.1	28	0.00	0	C	NM_006662		30735969	30735969	+1	no_errors	ENST00000262518	ensembl	human	known	69_37n	missense	32	23.81	10	SNP	1.000	G
SRD5A1	6715	genome.wustl.edu	37	5	6652121	6652121	+	Splice_Site	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:6652121G>C	ENST00000274192.5	+	2	694	c.460G>C	c.(460-462)Ggt>Cgt	p.G154R	SRD5A1_ENST00000537411.1_3'UTR|SRD5A1_ENST00000538824.1_Intron|SRD5A1_ENST00000504286.1_3'UTR	NM_001047.2	NP_001038.1	P18405	S5A1_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)	154					androgen biosynthetic process (GO:0006702)|cell differentiation (GO:0030154)|sex determination (GO:0007530)|sex differentiation (GO:0007548)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-oxo-5-alpha-steroid 4-dehydrogenase activity (GO:0003865)|cholestenone 5-alpha-reductase activity (GO:0047751)|electron carrier activity (GO:0009055)			endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Dutasteride(DB01126)|Finasteride(DB01216)|Levonorgestrel(DB00367)|Spironolactone(DB00421)	TTTTCTAATAGGTGAGTGTCC	0.433																																						dbGAP											0													161.0	144.0	150.0					5																	6652121		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			M32313	CCDS3870.1	5p15.31	2008-02-05			ENSG00000145545	ENSG00000145545	1.3.99.5		11284	protein-coding gene	gene with protein product		184753				1686016	Standard	XR_427663		Approved		uc003jdw.3	P18405	OTTHUMG00000090456	ENST00000274192.5:c.460+1G>C	5.37:g.6652121G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7Q1|Q9UHY4|Q9UP36|Q9UP37	Missense_Mutation	SNP	pfam_3-oxo-5_a-steroid_4-DH_C,pfam_DUF1295,pirsf_3-oxo-5-alpha-steroid_4-DH,pfscan_3-oxo-5_a-steroid_4-DH_C	p.G154R	ENST00000274192.5	37	c.460	CCDS3870.1	5	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057367	0.76074	.	.	ENSG00000145545	ENST00000274192	T	0.37915	1.17	5.58	5.58	0.84498	3-oxo-5-alpha-steroid 4-dehydrogenase, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.76521	0.3999	H	0.98295	4.195	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86036	0.1516	10	0.87932	D	0	-15.0654	18.3512	0.90339	0.0:0.0:1.0:0.0	.	154	P18405	S5A1_HUMAN	R	154	ENSP00000274192:G154R	ENSP00000274192:G154R	G	+	1	0	SRD5A1	6705121	1.000000	0.71417	0.958000	0.39756	0.371000	0.29859	8.383000	0.90157	2.623000	0.88846	0.650000	0.86243	GGT	SRD5A1	-	pfam_3-oxo-5_a-steroid_4-DH_C,pfam_DUF1295,pirsf_3-oxo-5-alpha-steroid_4-DH,pfscan_3-oxo-5_a-steroid_4-DH_C	ENSG00000145545		0.433	SRD5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRD5A1	HGNC	protein_coding	OTTHUMT00000206903.1	118	0.00	0	G	NM_001047	Missense_Mutation	6652121	6652121	+1	no_errors	ENST00000274192	ensembl	human	known	69_37n	missense	84	21.50	23	SNP	1.000	C
SRD5A3	79644	genome.wustl.edu	37	4	56225577	56225577	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:56225577C>T	ENST00000264228.4	+	2	514	c.286C>T	c.(286-288)Caa>Taa	p.Q96*	SRD5A3_ENST00000514398.1_3'UTR	NM_024592.4	NP_078868.1	Q9H8P0	PORED_HUMAN	steroid 5 alpha-reductase 3	96					androgen biosynthetic process (GO:0006702)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|polyprenol catabolic process (GO:0016095)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-oxo-5-alpha-steroid 4-dehydrogenase activity (GO:0003865)|cholestenone 5-alpha-reductase activity (GO:0047751)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)			cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.0179)		Spironolactone(DB00421)	GTGCCTTACTCAATCTCTGTT	0.478																																						dbGAP											0													265.0	244.0	251.0					4																	56225577		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK023414	CCDS3498.1	4q12	2009-07-21			ENSG00000128039	ENSG00000128039			25812	protein-coding gene	gene with protein product		611715				17986282	Standard	NM_024592		Approved	FLJ13352, SRD5A2L, SRD5A2L1	uc003hau.3	Q9H8P0	OTTHUMG00000128733	ENST00000264228.4:c.286C>T	4.37:g.56225577C>T	ENSP00000264228:p.Gln96*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W5Q6	Nonsense_Mutation	SNP	pfam_3-oxo-5_a-steroid_4-DH_C,pfscan_3-oxo-5_a-steroid_4-DH_C	p.Q96*	ENST00000264228.4	37	c.286	CCDS3498.1	4	.	.	.	.	.	.	.	.	.	.	C	21.4	4.140226	0.77775	.	.	ENSG00000128039	ENST00000264228;ENST00000505210	.	.	.	5.23	4.34	0.51931	.	0.588174	0.18101	N	0.151685	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	15.7391	0.77870	0.1366:0.8634:0.0:0.0	.	.	.	.	X	96;71	.	ENSP00000264228:Q96X	Q	+	1	0	SRD5A3	55920334	0.064000	0.20934	0.031000	0.17742	0.781000	0.44180	3.722000	0.54948	2.597000	0.87782	0.563000	0.77884	CAA	SRD5A3	-	NULL	ENSG00000128039		0.478	SRD5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRD5A3	HGNC	protein_coding	OTTHUMT00000250644.2	239	0.00	0	C	NM_024592		56225577	56225577	+1	no_errors	ENST00000264228	ensembl	human	known	69_37n	nonsense	177	18.43	40	SNP	0.023	T
SRGAP1	57522	genome.wustl.edu	37	12	64377747	64377747	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:64377747G>A	ENST00000355086.3	+	2	612	c.88G>A	c.(88-90)Gaa>Aaa	p.E30K	SRGAP1_ENST00000543397.1_5'UTR|SRGAP1_ENST00000357825.3_Missense_Mutation_p.E30K	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	30	F-BAR domain.|FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				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)		TCAACTGGTAGAACAACAAAA	0.408																																						dbGAP											0													74.0	78.0	77.0					12																	64377747		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.88G>A	12.37:g.64377747G>A	ENSP00000347198:p.Glu30Lys	Somatic		WXS	Illumina GAIIx	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.E30K	ENST00000355086.3	37	c.88	CCDS8967.1	12	.	.	.	.	.	.	.	.	.	.	G	34	5.311090	0.95629	.	.	ENSG00000196935	ENST00000355086;ENST00000357825	T;T	0.46063	0.88;0.88	4.89	4.89	0.63831	Fps/Fes/Fer/CIP4 homology (3);	0.000000	0.35349	U	0.003267	T	0.67608	0.2911	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.992;0.999	T	0.70605	-0.4826	9	.	.	.	.	18.4431	0.90674	0.0:0.0:1.0:0.0	.	30;30	Q7Z6B7;Q7Z6B7-2	SRGP1_HUMAN;.	K	30	ENSP00000347198:E30K;ENSP00000350480:E30K	.	E	+	1	0	SRGAP1	62664014	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	9.787000	0.99055	2.437000	0.82529	0.585000	0.79938	GAA	SRGAP1	-	pfam_FCH,smart_FCH,pfscan_FCH	ENSG00000196935		0.408	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SRGAP1	HGNC	protein_coding	OTTHUMT00000400896.1	68	0.00	0	G			64377747	64377747	+1	no_errors	ENST00000355086	ensembl	human	known	69_37n	missense	46	25.81	16	SNP	1.000	A
SRGAP1	57522	genome.wustl.edu	37	12	64377861	64377861	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:64377861G>C	ENST00000355086.3	+	2	726	c.202G>C	c.(202-204)Gag>Cag	p.E68Q	SRGAP1_ENST00000543397.1_Missense_Mutation_p.E28Q|SRGAP1_ENST00000357825.3_Missense_Mutation_p.E68Q	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	68	F-BAR domain.|FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				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)		CCGGAATCTAGAGAAGTTAGC	0.413																																						dbGAP											0													111.0	110.0	110.0					12																	64377861		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.202G>C	12.37:g.64377861G>C	ENSP00000347198:p.Glu68Gln	Somatic		WXS	Illumina GAIIx	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.E68Q	ENST00000355086.3	37	c.202	CCDS8967.1	12	.	.	.	.	.	.	.	.	.	.	G	31	5.094887	0.94197	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.47869	0.83;0.83;2.31	5.13	5.13	0.70059	Fps/Fes/Fer/CIP4 homology (3);	0.000000	0.35013	U	0.003518	T	0.71307	0.3324	M	0.80183	2.485	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.993	D;D;D	0.75484	0.986;0.959;0.936	T	0.73113	-0.4085	9	.	.	.	.	18.9686	0.92707	0.0:0.0:1.0:0.0	.	68;28;68	Q7Z6B7;G5EA48;Q7Z6B7-2	SRGP1_HUMAN;.;.	Q	68;68;28	ENSP00000347198:E68Q;ENSP00000350480:E68Q;ENSP00000437948:E28Q	.	E	+	1	0	SRGAP1	62664128	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.787000	0.99055	2.553000	0.86117	0.585000	0.79938	GAG	SRGAP1	-	pfam_FCH,smart_FCH,pfscan_FCH	ENSG00000196935		0.413	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SRGAP1	HGNC	protein_coding	OTTHUMT00000400896.1	71	0.00	0	G			64377861	64377861	+1	no_errors	ENST00000355086	ensembl	human	known	69_37n	missense	49	15.52	9	SNP	1.000	C
SRGAP1	57522	genome.wustl.edu	37	12	64502761	64502761	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:64502761G>C	ENST00000355086.3	+	16	2387	c.1863G>C	c.(1861-1863)ctG>ctC	p.L621L	SRGAP1_ENST00000543397.1_Silent_p.L558L|RP11-196H14.4_ENST00000535806.1_RNA|SRGAP1_ENST00000357825.3_Silent_p.L598L	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	621	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				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)		AACTCCTCCTGACTTTGCCCA	0.453																																						dbGAP											0													154.0	135.0	142.0					12																	64502761		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			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.1863G>C	12.37:g.64502761G>C		Somatic		WXS	Illumina GAIIx	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.L621	ENST00000355086.3	37	c.1863	CCDS8967.1	12																																																																																			SRGAP1	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000196935		0.453	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SRGAP1	HGNC	protein_coding	OTTHUMT00000400896.1	95	0.00	0	G			64502761	64502761	+1	no_errors	ENST00000355086	ensembl	human	known	69_37n	silent	76	21.65	21	SNP	0.998	C
SRGAP2	23380	genome.wustl.edu	37	1	206574870	206574870	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:206574870G>A	ENST00000414007.1	+	4	502	c.502G>A	c.(502-504)Gag>Aag	p.E168K	SRGAP2_ENST00000419187.2_5'UTR			O75044	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	308	F-BAR domain.				actin filament severing (GO:0051014)|axon guidance (GO:0007411)|dendritic spine development (GO:0060996)|extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration (GO:0021816)|filopodium assembly (GO:0046847)|lamellipodium assembly involved in ameboidal cell migration (GO:0003363)|negative regulation of neuron migration (GO:2001223)|neuron projection morphogenesis (GO:0048812)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine head (GO:0044327)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein homodimerization activity (GO:0042803)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					GTCGAAGCATGAGGGTCTGGA	0.527																																						dbGAP											0													7.0	6.0	7.0					1																	206574870		1756	3949	5705	-	-	-	SO:0001583	missense	0			AB007925	CCDS73017.1	1q32.1	2014-08-13	2004-11-12	2004-11-12	ENSG00000163486	ENSG00000266028		"""Rho GTPase activating proteins"""	19751	protein-coding gene	gene with protein product		606524	"""formin binding protein 2"""	FNBP2		15046868, 11672528	Standard	XM_005277510		Approved	KIAA0456, ARHGAP34, SRGAP2A	uc001hdy.3	O75044	OTTHUMG00000184381	ENST00000414007.1:c.502G>A	1.37:g.206574870G>A	ENSP00000390898:p.Glu168Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_RhoGAP_dom,smart_SH3_domain,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.E168K	ENST00000414007.1	37	c.502		1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.634291	0.87660	.	.	ENSG00000163486	ENST00000414359;ENST00000414007	T	0.24723	1.84	6.02	6.02	0.97574	.	0.166777	0.51477	D	0.000081	T	0.28764	0.0713	.	.	.	0.80722	D	1.000000	B;B;B	0.22276	0.067;0.048;0.018	B;B;B	0.23150	0.018;0.044;0.027	T	0.04752	-1.0929	8	0.49607	T	0.09	.	20.5373	0.99239	0.0:0.0:1.0:0.0	.	155;308;307	B4DDU0;O75044;B7Z3G4	.;FNBP2_HUMAN;.	K	221;168	ENSP00000390898:E168K	ENSP00000390898:E168K	E	+	1	0	SRGAP2	204641493	1.000000	0.71417	0.994000	0.49952	0.963000	0.63663	4.372000	0.59530	2.857000	0.98124	0.650000	0.86243	GAG	SRGAP2	-	NULL	ENSG00000163486		0.527	SRGAP2-201	KNOWN	basic	protein_coding	SRGAP2	HGNC	protein_coding		65	0.00	0	G	NM_015326		206574870	206574870	+1	no_start_codon	ENST00000414007	ensembl	human	known	69_37n	missense	106	11.67	14	SNP	1.000	A
SRPK2	6733	genome.wustl.edu	37	7	104807828	104807828	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:104807828C>G	ENST00000393651.3	-	6	597	c.510G>C	c.(508-510)ggG>ggC	p.G170G	SRPK2_ENST00000357311.3_Silent_p.G159G|SRPK2_ENST00000489828.1_Silent_p.G159G	NM_182692.1	NP_872634.1			SRSF protein kinase 2											NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						GGATACGTATCCCATTCATGC	0.368																																						dbGAP											0													156.0	127.0	137.0					7																	104807828		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U88666	CCDS5735.1, CCDS34724.1	7q22-q31.1	2010-06-23	2010-06-23		ENSG00000135250	ENSG00000135250			11306	protein-coding gene	gene with protein product	"""SR protein kinase 2"", ""serine/arginine-rich splicing factor kinase 2"""	602980	"""SFRS protein kinase 2"""			8208298, 9472028	Standard	NM_182692		Approved	SFRSK2	uc003vcv.4	P78362	OTTHUMG00000157405	ENST00000393651.3:c.510G>C	7.37:g.104807828C>G		Somatic		WXS	Illumina GAIIx	Phase_IV		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.G170	ENST00000393651.3	37	c.510	CCDS34724.1	7																																																																																			SRPK2	-	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	ENSG00000135250		0.368	SRPK2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SRPK2	HGNC	protein_coding	OTTHUMT00000348723.1	90	0.00	0	C	NM_182691		104807828	104807828	-1	no_errors	ENST00000393651	ensembl	human	known	69_37n	silent	59	18.06	13	SNP	0.999	G
SRRM2	23524	genome.wustl.edu	37	16	2812220	2812220	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:2812220C>G	ENST00000301740.8	+	11	2240	c.1691C>G	c.(1690-1692)tCt>tGt	p.S564C		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	564	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AGGTCCCACTCTAGATCCCCA	0.612																																						dbGAP											0													33.0	38.0	37.0					16																	2812220		2198	4300	6498	-	-	-	SO:0001583	missense	0			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.1691C>G	16.37:g.2812220C>G	ENSP00000301740:p.Ser564Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	pfam_mRNA_splic_Cwf21	p.S564C	ENST00000301740.8	37	c.1691	CCDS32373.1	16	.	.	.	.	.	.	.	.	.	.	C	14.51	2.557883	0.45590	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000426305	T	0.29655	1.56	5.91	5.91	0.95273	.	0.102410	0.44285	D	0.000465	T	0.37489	0.1005	L	0.27053	0.805	0.37139	D	0.901603	D	0.59767	0.986	P	0.54499	0.754	T	0.29488	-1.0010	10	0.59425	D	0.04	-9.52	17.7728	0.88497	0.0:1.0:0.0:0.0	.	564	Q9UQ35	SRRM2_HUMAN	C	564;564;529	ENSP00000301740:S564C	ENSP00000301740:S564C	S	+	2	0	SRRM2	2752221	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	4.390000	0.59646	2.801000	0.96364	0.655000	0.94253	TCT	SRRM2	-	NULL	ENSG00000167978		0.612	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM2	HGNC	protein_coding	OTTHUMT00000436411.1	36	0.00	0	C			2812220	2812220	+1	no_errors	ENST00000301740	ensembl	human	known	69_37n	missense	39	13.33	6	SNP	1.000	G
SRRM2	23524	genome.wustl.edu	37	16	2814642	2814642	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:2814642G>C	ENST00000301740.8	+	11	4662	c.4113G>C	c.(4111-4113)atG>atC	p.M1371I		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1371	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CTCTAGACATGAAAGAACAAT	0.418																																						dbGAP											0													177.0	179.0	178.0					16																	2814642		2198	4300	6498	-	-	-	SO:0001583	missense	0			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.4113G>C	16.37:g.2814642G>C	ENSP00000301740:p.Met1371Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	pfam_mRNA_splic_Cwf21	p.M1371I	ENST00000301740.8	37	c.4113	CCDS32373.1	16	.	.	.	.	.	.	.	.	.	.	G	9.474	1.096374	0.20552	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	T	0.21191	2.02	6.11	3.94	0.45596	.	0.929472	0.09273	N	0.824848	T	0.09069	0.0224	N	0.08118	0	0.26311	N	0.977828	B	0.02656	0.0	B	0.01281	0.0	T	0.33854	-0.9852	10	0.15952	T	0.53	0.0195	3.5204	0.07740	0.0919:0.1682:0.5644:0.1755	.	1371	Q9UQ35	SRRM2_HUMAN	I	1371;1371;623	ENSP00000301740:M1371I	ENSP00000301740:M1371I	M	+	3	0	SRRM2	2754643	0.904000	0.30761	0.995000	0.50966	0.973000	0.67179	0.922000	0.28734	2.906000	0.99361	0.655000	0.94253	ATG	SRRM2	-	NULL	ENSG00000167978		0.418	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM2	HGNC	protein_coding	OTTHUMT00000436411.1	30	0.00	0	G			2814642	2814642	+1	no_errors	ENST00000301740	ensembl	human	known	69_37n	missense	34	19.05	8	SNP	0.936	C
SRRM2	23524	genome.wustl.edu	37	16	2815463	2815463	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:2815463G>A	ENST00000301740.8	+	11	5483	c.4934G>A	c.(4933-4935)aGa>aAa	p.R1645K		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1645	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AGCAAAGGCAGAGGCCCTTCT	0.577																																						dbGAP											0													72.0	69.0	70.0					16																	2815463		2198	4300	6498	-	-	-	SO:0001583	missense	0			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.4934G>A	16.37:g.2815463G>A	ENSP00000301740:p.Arg1645Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	pfam_mRNA_splic_Cwf21	p.R1645K	ENST00000301740.8	37	c.4934	CCDS32373.1	16	.	.	.	.	.	.	.	.	.	.	G	9.125	1.009843	0.19277	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	T	0.36699	1.24	5.47	5.47	0.80525	.	0.000000	0.64402	D	0.000020	T	0.50360	0.1611	L	0.44542	1.39	0.29140	N	0.879065	P	0.52842	0.956	D	0.65010	0.931	T	0.41998	-0.9477	10	0.29301	T	0.29	-9.0538	16.8163	0.85734	0.0:0.0:1.0:0.0	.	1645	Q9UQ35	SRRM2_HUMAN	K	1645;1645;897	ENSP00000301740:R1645K	ENSP00000301740:R1645K	R	+	2	0	SRRM2	2755464	0.809000	0.29036	0.976000	0.42696	0.901000	0.52897	3.606000	0.54095	2.566000	0.86566	0.655000	0.94253	AGA	SRRM2	-	NULL	ENSG00000167978		0.577	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM2	HGNC	protein_coding	OTTHUMT00000436411.1	63	0.00	0	G			2815463	2815463	+1	no_errors	ENST00000301740	ensembl	human	known	69_37n	missense	60	16.44	12	SNP	0.976	A
SRRT	51593	genome.wustl.edu	37	7	100484670	100484670	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:100484670C>G	ENST00000347433.4	+	15	1982	c.1824C>G	c.(1822-1824)gtC>gtG	p.V608V	SRRT_ENST00000457580.2_Silent_p.V608V|SRRT_ENST00000388793.4_Silent_p.V607V|SRRT_ENST00000432932.1_Silent_p.V607V			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	608					cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						TCCCTTAGGTCTTGGACAAGC	0.577																																						dbGAP											0													163.0	157.0	159.0					7																	100484670		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.1824C>G	7.37:g.100484670C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Silent	SNP	pfam_Arsenite-R_2,pfam_DUF3546	p.V607	ENST00000347433.4	37	c.1821	CCDS34709.1	7																																																																																			SRRT	-	NULL	ENSG00000087087		0.577	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	SRRT	HGNC	protein_coding	OTTHUMT00000347168.1	53	0.00	0	C	NM_015908		100484670	100484670	+1	no_errors	ENST00000388793	ensembl	human	known	69_37n	silent	63	25.88	22	SNP	0.873	G
SS18	6760	genome.wustl.edu	37	18	23619393	23619393	+	Missense_Mutation	SNP	G	G	C	rs522706	byFrequency	TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr18:23619393G>C	ENST00000415083.2	-	6	690	c.635C>G	c.(634-636)tCt>tGt	p.S212C	SS18_ENST00000269137.7_Missense_Mutation_p.S212C|SS18_ENST00000542743.1_Missense_Mutation_p.S160C|SS18_ENST00000542420.2_Missense_Mutation_p.S189C|SS18_ENST00000585241.1_5'UTR|SS18_ENST00000539849.1_Missense_Mutation_p.S130C|SS18_ENST00000545952.1_Missense_Mutation_p.S160C	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	212	Gln-rich.				cell morphogenesis (GO:0000902)|ephrin receptor signaling pathway (GO:0048013)|intracellular signal transduction (GO:0035556)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)		SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					GTATTGCTGAGAAGGAGGCTG	0.398			T	"""SSX1,  SSX2"""	synovial sarcoma																																	dbGAP		Dom	yes		18	18q11.2	6760	"""synovial sarcoma translocation, chromosome 18"""		M	0													166.0	139.0	148.0					18																	23619393		2203	4300	6503	-	-	-	SO:0001583	missense	0			X79201	CCDS32807.1, CCDS54183.1	18q11.2	2008-07-28				ENSG00000141380			11340	protein-coding gene	gene with protein product		600192		SSXT		8152806, 7951320, 16484776	Standard	XM_005258334		Approved	SYT	uc002kvm.3	Q15532		ENST00000415083.2:c.635C>G	18.37:g.23619393G>C	ENSP00000414516:p.Ser212Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B0YJ95|Q16404|Q4VAX1|Q9BXC6	Missense_Mutation	SNP	pfam_SSXT	p.S212C	ENST00000415083.2	37	c.635	CCDS32807.1	18	.	.	.	.	.	.	.	.	.	.	G	27.1	4.804690	0.90623	.	.	ENSG00000141380	ENST00000415083;ENST00000269138;ENST00000269137;ENST00000542420;ENST00000542743;ENST00000539849;ENST00000545952	T;T;T;T;T	0.36340	1.31;1.27;1.29;1.26;1.29	5.31	5.31	0.75309	.	0.052738	0.85682	D	0.000000	T	0.55752	0.1940	L	0.53249	1.67	0.80722	D	1	P;P;D	0.76494	0.838;0.838;0.999	B;B;D	0.64144	0.339;0.436;0.922	T	0.56372	-0.7990	10	0.66056	D	0.02	-10.0366	19.3412	0.94342	0.0:0.0:1.0:0.0	.	160;212;212	B4E2J6;Q4VAX0;Q15532	.;.;SSXT_HUMAN	C	215;212;212;189;160;130;160	ENSP00000269137:S212C;ENSP00000438066:S189C;ENSP00000444551:S160C;ENSP00000444647:S130C;ENSP00000443097:S160C	ENSP00000269137:S212C	S	-	2	0	SS18	21873391	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.420000	0.97426	2.657000	0.90304	0.655000	0.94253	TCT	SS18	-	NULL	ENSG00000141380		0.398	SS18-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SS18	HGNC	protein_coding	OTTHUMT00000446226.1	110	0.00	0	G			23619393	23619393	-1	no_errors	ENST00000415083	ensembl	human	known	69_37n	missense	63	30.00	27	SNP	1.000	C
SSC5D	284297	genome.wustl.edu	37	19	56029199	56029199	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:56029199C>T	ENST00000389623.6	+	14	3579	c.3556C>T	c.(3556-3558)Cac>Tac	p.H1186Y		NM_001144950.1	NP_001138422.1	A1L4H1	SRCRL_HUMAN	scavenger receptor cysteine rich family, 5 domains	1186	Pro-rich.|Thr-rich.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterial lipoprotein (GO:0042494)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|negative regulation of interleukin-8 secretion (GO:2000483)|receptor-mediated endocytosis (GO:0006898)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|intracellular (GO:0005622)|membrane (GO:0016020)	extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|skin(2)	4						cacgacccctcaccccaccac	0.592																																						dbGAP											0													255.0	246.0	249.0					19																	56029199		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS46196.1, CCDS59424.1	19q13.42	2014-07-09	2014-07-09		ENSG00000179954	ENSG00000179954			26641	protein-coding gene	gene with protein product	"""soluble scavenger with 5 domains"""		"""scavenger receptor cysteine rich domain containing (5 domains)"""			19535143	Standard	NM_001144950		Approved	FLJ35258	uc002qlg.4	A1L4H1		ENST00000389623.6:c.3556C>T	19.37:g.56029199C>T	ENSP00000374274:p.His1186Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDQ5|C7S7T9|C7S7U0|K7EP70	Missense_Mutation	SNP	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_Srcr_rcpt,pfscan_Srcr_rcpt	p.H1186Y	ENST00000389623.6	37	c.3556	CCDS46196.1	19	.	.	.	.	.	.	.	.	.	.	-	8.035	0.762526	0.15914	.	.	ENSG00000179954	ENST00000389623	T	0.01203	5.18	2.33	-0.743	0.11105	.	.	.	.	.	T	0.00815	0.0027	N	0.13235	0.315	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47058	-0.9146	9	0.66056	D	0.02	.	4.064	0.09851	0.0:0.4321:0.0:0.5679	.	1186	A1L4H1	SRCRL_HUMAN	Y	1186	ENSP00000374274:H1186Y	ENSP00000374274:H1186Y	H	+	1	0	SSC5D	60721011	0.000000	0.05858	0.003000	0.11579	0.021000	0.10359	-1.829000	0.01701	0.122000	0.18314	0.282000	0.19409	CAC	SSC5D	-	NULL	ENSG00000179954		0.592	SSC5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SSC5D	HGNC	protein_coding	OTTHUMT00000453345.2	183	0.00	0	C	XM_001718392		56029199	56029199	+1	no_errors	ENST00000389623	ensembl	human	known	69_37n	missense	201	21.48	55	SNP	0.001	T
SSC5D	284297	genome.wustl.edu	37	19	56029433	56029433	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:56029433C>T	ENST00000389623.6	+	14	3813	c.3790C>T	c.(3790-3792)Caa>Taa	p.Q1264*		NM_001144950.1	NP_001138422.1	A1L4H1	SRCRL_HUMAN	scavenger receptor cysteine rich family, 5 domains	1264	Pro-rich.|Thr-rich.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterial lipoprotein (GO:0042494)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|negative regulation of interleukin-8 secretion (GO:2000483)|receptor-mediated endocytosis (GO:0006898)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|intracellular (GO:0005622)|membrane (GO:0016020)	extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|skin(2)	4						cacaacccctcaacccttcac	0.632																																						dbGAP											0													438.0	522.0	496.0					19																	56029433		692	1591	2283	-	-	-	SO:0001587	stop_gained	0				CCDS46196.1, CCDS59424.1	19q13.42	2014-07-09	2014-07-09		ENSG00000179954	ENSG00000179954			26641	protein-coding gene	gene with protein product	"""soluble scavenger with 5 domains"""		"""scavenger receptor cysteine rich domain containing (5 domains)"""			19535143	Standard	NM_001144950		Approved	FLJ35258	uc002qlg.4	A1L4H1		ENST00000389623.6:c.3790C>T	19.37:g.56029433C>T	ENSP00000374274:p.Gln1264*	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDQ5|C7S7T9|C7S7U0|K7EP70	Nonsense_Mutation	SNP	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_Srcr_rcpt,pfscan_Srcr_rcpt	p.Q1264*	ENST00000389623.6	37	c.3790	CCDS46196.1	19	.	.	.	.	.	.	.	.	.	.	-	38	7.090365	0.98055	.	.	ENSG00000179954	ENST00000389623	.	.	.	2.99	1.89	0.25635	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	.	6.6065	0.22727	0.0:0.8372:0.0:0.1628	.	.	.	.	X	1264	.	ENSP00000374274:Q1264X	Q	+	1	0	SSC5D	60721245	0.025000	0.19082	0.087000	0.20705	0.111000	0.19643	-0.627000	0.05521	1.381000	0.46364	0.282000	0.19409	CAA	SSC5D	-	NULL	ENSG00000179954		0.632	SSC5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SSC5D	HGNC	protein_coding	OTTHUMT00000453345.2	305	0.00	0	C	XM_001718392		56029433	56029433	+1	no_errors	ENST00000389623	ensembl	human	known	69_37n	nonsense	467	17.64	100	SNP	0.059	T
SSFA2	6744	genome.wustl.edu	37	2	182780892	182780892	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:182780892C>G	ENST00000431877.2	+	11	2704	c.2525C>G	c.(2524-2526)tCt>tGt	p.S842C	SSFA2_ENST00000428267.2_Missense_Mutation_p.S689C|SSFA2_ENST00000409136.1_Missense_Mutation_p.S351C|SSFA2_ENST00000320370.7_Missense_Mutation_p.S842C|SSFA2_ENST00000409001.1_Missense_Mutation_p.S842C	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	842						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			ATGTCTCAGTCTACCTGTTCC	0.547																																						dbGAP											0													117.0	124.0	122.0					2																	182780892		2203	4300	6503	-	-	-	SO:0001583	missense	0			M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434			11319	protein-coding gene	gene with protein product	"""cleavage signal-1 protein"", ""KRAS-induced actin-interacting protein"", ""sperm associated antigen 13"""	118990				1555770	Standard	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000431877.2:c.2525C>G	2.37:g.182780892C>G	ENSP00000388731:p.Ser842Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Missense_Mutation	SNP	NULL	p.S842C	ENST00000431877.2	37	c.2525	CCDS46467.1	2	.	.	.	.	.	.	.	.	.	.	C	21.0	4.083603	0.76642	.	.	ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001;ENST00000428267;ENST00000409136	T;T;T;T;T	0.19669	2.37;2.13;2.36;2.37;2.15	5.95	5.95	0.96441	.	0.110787	0.64402	D	0.000005	T	0.50939	0.1645	M	0.73598	2.24	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	T	0.48525	-0.9028	10	0.87932	D	0	-9.639	20.3932	0.98965	0.0:1.0:0.0:0.0	.	689;351;842;842;842	E7END2;E7EUL7;E9PHV5;P28290;P28290-3	.;.;.;SSFA2_HUMAN;.	C	842;842;842;689;351	ENSP00000388731:S842C;ENSP00000314669:S842C;ENSP00000387319:S842C;ENSP00000409867:S689C;ENSP00000386916:S351C	ENSP00000314669:S842C	S	+	2	0	SSFA2	182489137	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	6.170000	0.71920	2.824000	0.97209	0.655000	0.94253	TCT	SSFA2	-	NULL	ENSG00000138434		0.547	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SSFA2	HGNC	protein_coding	OTTHUMT00000255793.2	67	0.00	0	C	NM_006751		182780892	182780892	+1	no_errors	ENST00000431877	ensembl	human	known	69_37n	missense	89	14.42	15	SNP	1.000	G
SSH3	54961	genome.wustl.edu	37	11	67076953	67076953	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:67076953G>A	ENST00000308127.4	+	11	1325	c.1147G>A	c.(1147-1149)Gag>Aag	p.E383K	SSH3_ENST00000308298.7_Intron|SSH3_ENST00000532181.1_3'UTR|SSH3_ENST00000376757.5_Missense_Mutation_p.E383K	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	383	Tyrosine-protein phosphatase.				protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|DNA binding (GO:0003677)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CCTCTGGGATGAGGAGTCGGC	0.612																																						dbGAP											0													84.0	78.0	80.0					11																	67076953		2200	4295	6495	-	-	-	SO:0001583	missense	0			AF085851	CCDS8157.1	11q13	2013-03-05	2013-03-05		ENSG00000172830	ENSG00000172830		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30581	protein-coding gene	gene with protein product		606780	"""slingshot homolog 3 (Drosophila)"""			11832213	Standard	NM_017857		Approved	FLJ20515, FLJ10928	uc001okj.3	Q8TE77	OTTHUMG00000167105	ENST00000308127.4:c.1147G>A	11.37:g.67076953G>A	ENSP00000312081:p.Glu383Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6PK42|Q76I75|Q8N9L8|Q8WYL0|Q9NV45|Q9NWZ7	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.E383K	ENST00000308127.4	37	c.1147	CCDS8157.1	11	.	.	.	.	.	.	.	.	.	.	G	24.7	4.555277	0.86231	.	.	ENSG00000172830	ENST00000308127;ENST00000376757	T;T	0.60040	0.22;0.22	4.18	3.26	0.37387	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.080323	0.46145	D	0.000302	T	0.59348	0.2187	L	0.38175	1.15	0.50632	D	0.999889	D;B	0.63046	0.992;0.168	P;B	0.56916	0.809;0.348	T	0.60989	-0.7153	10	0.54805	T	0.06	-12.9453	11.5941	0.50962	0.0906:0.0:0.9094:0.0	.	237;383	Q8TE77-3;Q8TE77	.;SSH3_HUMAN	K	383	ENSP00000312081:E383K;ENSP00000365948:E383K	ENSP00000312081:E383K	E	+	1	0	SSH3	66833529	1.000000	0.71417	0.549000	0.28204	0.963000	0.63663	9.543000	0.98089	1.119000	0.41883	0.462000	0.41574	GAG	SSH3	-	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Dual-sp_phosphatase_subgr_cat	ENSG00000172830		0.612	SSH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSH3	HGNC	protein_coding	OTTHUMT00000393167.1	46	0.00	0	G	NM_018276		67076953	67076953	+1	no_errors	ENST00000308127	ensembl	human	known	69_37n	missense	72	16.28	14	SNP	1.000	A
SSPO	23145	genome.wustl.edu	37	7	149476192	149476192	+	RNA	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:149476192C>A	ENST00000378016.2	+	0	1070							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTCCCTGGCTCGGAGGTGAGG	0.637																																						dbGAP											0													14.0	18.0	16.0					7																	149476192		1916	4132	6048	-	-	-			0			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149476192C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q76B61	RNA	SNP	-	NULL	ENST00000378016.2	37	NULL		7																																																																																			SSPO	-	-	ENSG00000197558		0.637	SSPO-202	KNOWN	basic	processed_transcript	SSPO	HGNC	processed_transcript		47	0.00	0	C			149476192	149476192	+1	no_errors	ENST00000262089	ensembl	human	known	69_37n	rna	41	26.79	15	SNP	0.998	A
SSPO	23145	genome.wustl.edu	37	7	149484608	149484608	+	RNA	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:149484608C>G	ENST00000378016.2	+	0	3531							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCTGGCGCCTCAGCCCCCTCT	0.662																																						dbGAP											0													21.0	26.0	24.0					7																	149484608		2047	4183	6230	-	-	-			0			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149484608C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q76B61	RNA	SNP	-	NULL	ENST00000378016.2	37	NULL		7																																																																																			SSPO	-	-	ENSG00000197558		0.662	SSPO-202	KNOWN	basic	processed_transcript	SSPO	HGNC	processed_transcript		16	0.00	0	C			149484608	149484608	+1	no_errors	ENST00000262089	ensembl	human	known	69_37n	rna	16	42.86	12	SNP	1.000	G
SSX1	6756	genome.wustl.edu	37	X	48125765	48125765	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:48125765G>C	ENST00000376919.3	+	7	646	c.510G>C	c.(508-510)gaG>gaC	p.E170D		NM_001278691.1|NM_005635.2	NP_001265620.1|NP_005626.1	Q16384	SSX1_HUMAN	synovial sarcoma, X breakpoint 1	170					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|transcription corepressor activity (GO:0003714)		SS18/SSX1(1169)|SS18L1/SSX1(2)	endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						GACTGCGTGAGAGAAAGCAGC	0.512			T	SS18	synovial sarcoma																																Esophageal Squamous(175;994 1982 2214 6527 18857)	dbGAP		Dom	yes		X	Xp11.23-p11.22	6756	"""synovial sarcoma, X breakpoint 1"""		M	0													303.0	291.0	295.0					X																	48125765		1511	2706	4217	-	-	-	SO:0001583	missense	0			BC001003	CCDS14290.1	Xp11.23	2009-03-12			ENSG00000126752	ENSG00000126752			11335	protein-coding gene	gene with protein product	"""cancer/testis antigen family 5, member 1"""	312820				7655467	Standard	NM_005635		Approved	CT5.1	uc004djb.1	Q16384	OTTHUMG00000021488	ENST00000376919.3:c.510G>C	X.37:g.48125765G>C	ENSP00000366118:p.Glu170Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A3KN76|Q08AJ2|Q5JQ64	Missense_Mutation	SNP	pfam_SSXRD_motif,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.E170D	ENST00000376919.3	37	c.510	CCDS14290.1	X	.	.	.	.	.	.	.	.	.	.	N	11.97	1.798977	0.31777	.	.	ENSG00000126752	ENST00000376919	T	0.22539	1.95	2.39	-4.79	0.03200	SSXRD motif (1);	0.450639	0.18881	N	0.128561	T	0.32675	0.0837	L	0.59436	1.845	0.09310	N	1	D	0.57257	0.979	D	0.71414	0.973	T	0.16394	-1.0404	10	0.72032	D	0.01	.	8.8149	0.34989	0.2981:0.0:0.7019:0.0	.	170	Q16384	SSX1_HUMAN	D	170	ENSP00000366118:E170D	ENSP00000366118:E170D	E	+	3	2	SSX1	48010709	0.519000	0.26242	0.001000	0.08648	0.018000	0.09664	0.097000	0.15168	-1.539000	0.01732	-0.540000	0.04249	GAG	SSX1	-	pfam_SSXRD_motif	ENSG00000126752		0.512	SSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSX1	HGNC	protein_coding	OTTHUMT00000056485.1	264	0.00	0	G	NM_005635		48125765	48125765	+1	no_errors	ENST00000376919	ensembl	human	known	69_37n	missense	232	19.16	55	SNP	0.001	C
ST18	9705	genome.wustl.edu	37	8	53030921	53030921	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:53030921C>G	ENST00000276480.7	-	24	3519	c.2836G>C	c.(2836-2838)Gat>Cat	p.D946H		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	946					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)				TTCATCATATCTGCTTCAATT	0.308																																						dbGAP											0													194.0	190.0	191.0					8																	53030921		2201	4297	6498	-	-	-	SO:0001583	missense	0			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.2836G>C	8.37:g.53030921C>G	ENSP00000276480:p.Asp946His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RY1	Missense_Mutation	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.D946H	ENST00000276480.7	37	c.2836	CCDS6149.1	8	.	.	.	.	.	.	.	.	.	.	C	25.2	4.615183	0.87359	.	.	ENSG00000147488	ENST00000276480	T	0.51574	0.7	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.68906	0.3052	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71553	-0.4558	10	0.72032	D	0.01	-24.5144	18.9918	0.92796	0.0:1.0:0.0:0.0	.	946	O60284	ST18_HUMAN	H	946	ENSP00000276480:D946H	ENSP00000276480:D946H	D	-	1	0	ST18	53193474	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.441000	0.80485	2.499000	0.84300	0.591000	0.81541	GAT	ST18	-	NULL	ENSG00000147488		0.308	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST18	HGNC	protein_coding	OTTHUMT00000377867.1	346	0.00	0	C			53030921	53030921	-1	no_errors	ENST00000276480	ensembl	human	known	69_37n	missense	146	58.05	202	SNP	1.000	G
ST18	9705	genome.wustl.edu	37	8	53030994	53030994	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:53030994C>G	ENST00000276480.7	-	24	3446	c.2763G>C	c.(2761-2763)gaG>gaC	p.E921D		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	921					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)				CTTCATCACTCTCTATTCCTG	0.318																																						dbGAP											0													129.0	124.0	125.0					8																	53030994		2202	4297	6499	-	-	-	SO:0001583	missense	0			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.2763G>C	8.37:g.53030994C>G	ENSP00000276480:p.Glu921Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RY1	Missense_Mutation	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.E921D	ENST00000276480.7	37	c.2763	CCDS6149.1	8	.	.	.	.	.	.	.	.	.	.	C	13.03	2.115372	0.37339	.	.	ENSG00000147488	ENST00000276480	T	0.52754	0.65	5.44	1.59	0.23543	.	0.050878	0.85682	N	0.000000	T	0.32255	0.0823	L	0.37630	1.12	0.42656	D	0.99346	B	0.17667	0.023	B	0.22386	0.039	T	0.07290	-1.0780	10	0.38643	T	0.18	-13.613	4.8048	0.13314	0.1372:0.5152:0.0:0.3475	.	921	O60284	ST18_HUMAN	D	921	ENSP00000276480:E921D	ENSP00000276480:E921D	E	-	3	2	ST18	53193547	0.955000	0.32602	0.999000	0.59377	0.946000	0.59487	0.032000	0.13732	0.259000	0.21709	0.591000	0.81541	GAG	ST18	-	NULL	ENSG00000147488		0.318	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST18	HGNC	protein_coding	OTTHUMT00000377867.1	242	0.00	0	C			53030994	53030994	-1	no_errors	ENST00000276480	ensembl	human	known	69_37n	missense	206	13.81	33	SNP	1.000	G
ST18	9705	genome.wustl.edu	37	8	53085093	53085093	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:53085093C>G	ENST00000276480.7	-	10	1011	c.328G>C	c.(328-330)Gaa>Caa	p.E110Q		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	110					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)				CTGGAGTTTTCTTGTGCAGTT	0.328																																						dbGAP											0													34.0	36.0	35.0					8																	53085093		2196	4295	6491	-	-	-	SO:0001583	missense	0			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.328G>C	8.37:g.53085093C>G	ENSP00000276480:p.Glu110Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RY1	Missense_Mutation	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.E110Q	ENST00000276480.7	37	c.328	CCDS6149.1	8	.	.	.	.	.	.	.	.	.	.	C	11.87	1.767656	0.31320	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.49139	0.81;0.79	5.25	4.37	0.52481	.	1.111930	0.06527	N	0.740718	T	0.48696	0.1514	L	0.60455	1.87	0.32701	N	0.512925	B	0.24258	0.1	B	0.24006	0.05	T	0.47381	-0.9122	10	0.23302	T	0.38	-6.0466	13.6809	0.62484	0.0:0.9251:0.0:0.0749	.	110	O60284	ST18_HUMAN	Q	110	ENSP00000276480:E110Q;ENSP00000428521:E110Q	ENSP00000276480:E110Q	E	-	1	0	ST18	53247646	1.000000	0.71417	0.919000	0.36401	0.356000	0.29392	2.089000	0.41672	1.195000	0.43115	0.655000	0.94253	GAA	ST18	-	NULL	ENSG00000147488		0.328	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST18	HGNC	protein_coding	OTTHUMT00000377867.1	36	0.00	0	C			53085093	53085093	-1	no_errors	ENST00000276480	ensembl	human	known	69_37n	missense	45	11.76	6	SNP	1.000	G
ST6GAL1	6480	genome.wustl.edu	37	3	186793493	186793493	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:186793493G>A	ENST00000169298.3	+	8	1797	c.1123G>A	c.(1123-1125)Gag>Aag	p.E375K	ST6GAL1_ENST00000457772.2_Missense_Mutation_p.E144K|ST6GAL1_ENST00000448044.1_Missense_Mutation_p.E375K	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	375					cellular protein metabolic process (GO:0044267)|humoral immune response (GO:0006959)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)|sialyltransferase activity (GO:0008373)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		GCTGCTCTATGAGAAGAATTT	0.527																																						dbGAP											0													93.0	87.0	89.0					3																	186793493		2203	4300	6503	-	-	-	SO:0001583	missense	0			X62822	CCDS3285.1, CCDS46973.1	3q27-q28	2013-02-26	2003-01-14	2005-02-07	ENSG00000073849	ENSG00000073849	2.4.99.1		10860	protein-coding gene	gene with protein product	"""ST6Gal I"""	109675	"""sialyltransferase 1 (beta-galactoside alpha-2,6-sialytransferase)"""	SIAT1		2408023	Standard	NM_003032		Approved		uc003frd.3	P15907	OTTHUMG00000156500	ENST00000169298.3:c.1123G>A	3.37:g.186793493G>A	ENSP00000169298:p.Glu375Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KA14|B2R513|D3DNV3	Missense_Mutation	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.E375K	ENST00000169298.3	37	c.1123	CCDS3285.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.764483	0.96906	.	.	ENSG00000073849	ENST00000169298;ENST00000457772;ENST00000448044	T;T;T	0.55760	0.5;0.5;0.5	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.81503	0.4836	H	0.95079	3.62	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86213	0.1626	10	0.87932	D	0	-33.7929	17.8009	0.88586	0.0:0.0:1.0:0.0	.	375	P15907	SIAT1_HUMAN	K	375;144;375	ENSP00000169298:E375K;ENSP00000412221:E144K;ENSP00000389337:E375K	ENSP00000169298:E375K	E	+	1	0	ST6GAL1	188276187	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	9.796000	0.99103	2.884000	0.98904	0.655000	0.94253	GAG	ST6GAL1	-	pfam_Glyco_trans_29,pirsf_Sialyl_trans	ENSG00000073849		0.527	ST6GAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST6GAL1	HGNC	protein_coding	OTTHUMT00000344399.1	36	0.00	0	G	NM_173216		186793493	186793493	+1	no_errors	ENST00000169298	ensembl	human	known	69_37n	missense	69	19.77	17	SNP	1.000	A
ST6GALNAC6	30815	genome.wustl.edu	37	9	130648825	130648825	+	3'UTR	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:130648825G>A	ENST00000373146.1	-	0	1234				ST6GALNAC6_ENST00000291839.5_3'UTR|ST6GALNAC6_ENST00000542456.1_3'UTR|RP11-203J24.9_ENST00000476274.2_RNA|ST6GALNAC6_ENST00000373141.1_3'UTR|ST6GALNAC6_ENST00000373144.3_3'UTR|ST6GALNAC6_ENST00000373142.1_Nonsense_Mutation_p.Q351*|ST6GALNAC6_ENST00000485320.1_5'UTR			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6						cell-cell recognition (GO:0009988)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CCTAGCGGCTGGGCGGAGGCT	0.622																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			BC006564	CCDS6882.1, CCDS69668.1, CCDS69669.1, CCDS75908.1	9q34.13	2013-03-01		2005-02-07	ENSG00000160408	ENSG00000160408		"""Sialyltransferases"""	23364	protein-coding gene	gene with protein product		610135	"""sialytransferase 7 ((alpha-N-acetylneuraminyl 2,3-betagalactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialytransferase) F"""	SIAT7F		12668675	Standard	XM_005251952		Approved	ST6GALNACVI	uc004bso.1	Q969X2	OTTHUMG00000020718	ENST00000373146.1:c.*53C>T	9.37:g.130648825G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQ01|Q5T9C4|Q5T9C5|Q9H8A2|Q9ULB8	Nonsense_Mutation	SNP	pfam_Glyco_trans_29	p.Q351*	ENST00000373146.1	37	c.1051	CCDS6882.1	9	.	.	.	.	.	.	.	.	.	.	G	25.4	4.634965	0.87760	.	.	ENSG00000160408	ENST00000373142	.	.	.	5.69	1.5	0.22942	.	0.996974	0.08134	N	0.992670	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-0.1964	1.5687	0.02610	0.1853:0.1662:0.4765:0.1721	.	.	.	.	X	351	.	ENSP00000362235:Q351X	Q	-	1	0	ST6GALNAC6	129688646	0.764000	0.28473	0.009000	0.14445	0.023000	0.10783	1.193000	0.32162	1.410000	0.46936	0.655000	0.94253	CAG	ST6GALNAC6	-	NULL	ENSG00000160408		0.622	ST6GALNAC6-007	KNOWN	basic|CCDS	protein_coding	ST6GALNAC6	HGNC	protein_coding	OTTHUMT00000054278.1	54	0.00	0	G	NM_013443		130648825	130648825	-1	no_errors	ENST00000373142	ensembl	human	putative	69_37n	nonsense	70	18.60	16	SNP	0.000	A
ST8SIA2	8128	genome.wustl.edu	37	15	92988122	92988122	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:92988122G>A	ENST00000268164.3	+	5	1042	c.805G>A	c.(805-807)Gca>Aca	p.A269T	ST8SIA2_ENST00000539113.1_Missense_Mutation_p.A248T	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	269					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	early endosome (GO:0005769)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|recycling endosome (GO:0055037)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			CGTGCGCACTGCATACCCCTC	0.627																																						dbGAP											0													95.0	79.0	84.0					15																	92988122		2198	4298	6496	-	-	-	SO:0001583	missense	0			U33551	CCDS10372.1	15q26	2013-03-01	2003-01-14	2005-02-07	ENSG00000140557	ENSG00000140557		"""Sialyltransferases"""	10870	protein-coding gene	gene with protein product		602546	"""sialyltransferase 8 (alpha-2, 8-sialytransferase) B"""	SIAT8B		7559389	Standard	NM_006011		Approved	STX, ST8SIA-II, HsT19690	uc002bra.3	Q92186	OTTHUMG00000149843	ENST00000268164.3:c.805G>A	15.37:g.92988122G>A	ENSP00000268164:p.Ala269Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4VAZ0|Q92470|Q92746	Missense_Mutation	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.A269T	ENST00000268164.3	37	c.805	CCDS10372.1	15	.	.	.	.	.	.	.	.	.	.	G	36	5.762249	0.96906	.	.	ENSG00000140557	ENST00000268164;ENST00000539113;ENST00000555434	T;T;T	0.29397	1.57;1.57;1.57	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.51193	0.1660	M	0.64997	1.995	0.80722	D	1	D;P	0.54397	0.966;0.94	P;P	0.62014	0.869;0.897	T	0.31110	-0.9955	10	0.24483	T	0.36	-17.8931	19.4477	0.94854	0.0:0.0:1.0:0.0	.	248;269	C6G488;Q92186	.;SIA8B_HUMAN	T	269;248;226	ENSP00000268164:A269T;ENSP00000437382:A248T;ENSP00000450851:A226T	ENSP00000268164:A269T	A	+	1	0	ST8SIA2	90789126	1.000000	0.71417	0.357000	0.25798	0.965000	0.64279	9.572000	0.98179	2.584000	0.87258	0.561000	0.74099	GCA	ST8SIA2	-	pfam_Glyco_trans_29,pirsf_Sialyl_trans	ENSG00000140557		0.627	ST8SIA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST8SIA2	HGNC	protein_coding	OTTHUMT00000313526.1	11	0.00	0	G	NM_006011		92988122	92988122	+1	no_errors	ENST00000268164	ensembl	human	known	69_37n	missense	18	28.00	7	SNP	1.000	A
STAB2	55576	genome.wustl.edu	37	12	104031957	104031957	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:104031957G>C	ENST00000388887.2	+	8	1077	c.873G>C	c.(871-873)aaG>aaC	p.K291N		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GCCCTACAAAGTCTACAGTGT	0.488																																						dbGAP											0													81.0	72.0	75.0					12																	104031957		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.873G>C	12.37:g.104031957G>C	ENSP00000373539:p.Lys291Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF_laminin,smart_Prot_inh_squash,smart_EGF-like_Ca-bd,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.K291N	ENST00000388887.2	37	c.873	CCDS31888.1	12	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.416455	0.00188	.	.	ENSG00000136011	ENST00000388887	T	0.05319	3.46	5.47	2.68	0.31781	.	1.001650	0.08049	N	0.996308	T	0.01320	0.0043	N	0.00224	-1.81	0.24104	N	0.995869	B	0.06786	0.001	B	0.06405	0.002	T	0.46498	-0.9187	10	0.09590	T	0.72	.	2.3502	0.04281	0.2159:0.1305:0.5188:0.1348	.	291	Q8WWQ8	STAB2_HUMAN	N	291	ENSP00000373539:K291N	ENSP00000373539:K291N	K	+	3	2	STAB2	102556087	0.001000	0.12720	0.018000	0.16275	0.040000	0.13550	-0.239000	0.08965	0.293000	0.22520	-0.818000	0.03119	AAG	STAB2	-	smart_Prot_inh_squash	ENSG00000136011		0.488	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB2	HGNC	protein_coding	OTTHUMT00000407089.1	55	0.00	0	G			104031957	104031957	+1	no_errors	ENST00000388887	ensembl	human	known	69_37n	missense	64	28.89	26	SNP	0.475	C
STAB2	55576	genome.wustl.edu	37	12	104083696	104083696	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:104083696G>A	ENST00000388887.2	+	29	3322	c.3118G>A	c.(3118-3120)Gag>Aag	p.E1040K		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ACAAGCTACTGAGGACATGGA	0.433																																						dbGAP											0													187.0	162.0	170.0					12																	104083696		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.3118G>A	12.37:g.104083696G>A	ENSP00000373539:p.Glu1040Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF_laminin,smart_Prot_inh_squash,smart_EGF-like_Ca-bd,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.E1040K	ENST00000388887.2	37	c.3118	CCDS31888.1	12	.	.	.	.	.	.	.	.	.	.	G	6.775	0.511843	0.12944	.	.	ENSG00000136011	ENST00000388887	D	0.90385	-2.66	5.75	1.89	0.25635	FAS1 domain (5);Growth factor, receptor (1);	0.478584	0.22845	N	0.054929	T	0.80894	0.4711	L	0.31420	0.93	0.09310	N	1	B	0.10296	0.003	B	0.14578	0.011	T	0.61441	-0.7062	10	0.11485	T	0.65	.	7.2535	0.26162	0.2544:0.1117:0.634:0.0	.	1040	Q8WWQ8	STAB2_HUMAN	K	1040	ENSP00000373539:E1040K	ENSP00000373539:E1040K	E	+	1	0	STAB2	102607826	0.753000	0.28349	0.007000	0.13788	0.868000	0.49771	0.739000	0.26173	0.152000	0.19188	-0.127000	0.14921	GAG	STAB2	-	pfam_FAS1_domain,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt,smart_FAS1_domain,pfscan_FAS1_domain	ENSG00000136011		0.433	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB2	HGNC	protein_coding	OTTHUMT00000407089.1	112	0.00	0	G			104083696	104083696	+1	no_errors	ENST00000388887	ensembl	human	known	69_37n	missense	118	16.90	24	SNP	0.032	A
STAB2	55576	genome.wustl.edu	37	12	104097018	104097018	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:104097018G>C	ENST00000388887.2	+	35	4011	c.3807G>C	c.(3805-3807)aaG>aaC	p.K1269N		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AAATTCAGAAGAACAGATGTG	0.368																																						dbGAP											0													103.0	98.0	99.0					12																	104097018		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.3807G>C	12.37:g.104097018G>C	ENSP00000373539:p.Lys1269Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF_laminin,smart_Prot_inh_squash,smart_EGF-like_Ca-bd,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.K1269N	ENST00000388887.2	37	c.3807	CCDS31888.1	12	.	.	.	.	.	.	.	.	.	.	G	20.7	4.036101	0.75617	.	.	ENSG00000136011	ENST00000388887	T	0.65549	-0.16	5.8	4.91	0.64330	FAS1 domain (1);Growth factor, receptor (1);	0.451490	0.22501	N	0.059234	T	0.78413	0.4279	M	0.83384	2.64	0.37798	D	0.927588	D	0.89917	1.0	D	0.85130	0.997	T	0.76767	-0.2838	10	0.19590	T	0.45	.	14.2916	0.66281	0.0709:0.0:0.9291:0.0	.	1269	Q8WWQ8	STAB2_HUMAN	N	1269	ENSP00000373539:K1269N	ENSP00000373539:K1269N	K	+	3	2	STAB2	102621148	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.384000	0.44362	2.746000	0.94184	0.591000	0.81541	AAG	STAB2	-	superfamily_FAS1_domain,superfamily_Growth_fac_rcpt	ENSG00000136011		0.368	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB2	HGNC	protein_coding	OTTHUMT00000407089.1	51	0.00	0	G			104097018	104097018	+1	no_errors	ENST00000388887	ensembl	human	known	69_37n	missense	54	19.40	13	SNP	1.000	C
STAG1	10274	genome.wustl.edu	37	3	136062801	136062801	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:136062801G>C	ENST00000383202.2	-	30	3575	c.3319C>G	c.(3319-3321)Cag>Gag	p.Q1107E	STAG1_ENST00000434713.2_Missense_Mutation_p.Q847E|STAG1_ENST00000536929.1_Missense_Mutation_p.Q691E|STAG1_ENST00000236698.5_Missense_Mutation_p.Q1107E	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	1107					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						CCAGGAGTCTGAATCATGGTG	0.507																																						dbGAP											0													140.0	115.0	124.0					3																	136062801		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.3319C>G	3.37:g.136062801G>C	ENSP00000372689:p.Gln1107Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	O00539|Q6P275	Missense_Mutation	SNP	pfam_STAG,superfamily_ARM-type_fold	p.Q1107E	ENST00000383202.2	37	c.3319	CCDS3090.1	3	.	.	.	.	.	.	.	.	.	.	G	19.28	3.797350	0.70567	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000434713;ENST00000536929	T;T;T;T	0.30714	1.94;1.94;1.87;1.52	5.48	5.48	0.80851	.	0.107469	0.64402	D	0.000004	T	0.33411	0.0862	L	0.58101	1.795	0.58432	D	0.999994	B;B	0.28933	0.142;0.228	B;B	0.29077	0.098;0.098	T	0.10064	-1.0646	10	0.16896	T	0.51	.	19.3664	0.94464	0.0:0.0:1.0:0.0	.	1107;1107	Q6P275;Q8WVM7	.;STAG1_HUMAN	E	1107;1107;847;691	ENSP00000372689:Q1107E;ENSP00000236698:Q1107E;ENSP00000404396:Q847E;ENSP00000445787:Q691E	ENSP00000236698:Q1107E	Q	-	1	0	STAG1	137545491	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.435000	0.97529	2.569000	0.86673	0.655000	0.94253	CAG	STAG1	-	NULL	ENSG00000118007		0.507	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAG1	HGNC	protein_coding	OTTHUMT00000357366.1	90	0.00	0	G	NM_005862		136062801	136062801	-1	no_errors	ENST00000383202	ensembl	human	known	69_37n	missense	101	16.53	20	SNP	1.000	C
STAG1	10274	genome.wustl.edu	37	3	136082220	136082220	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:136082220G>C	ENST00000383202.2	-	26	3031	c.2775C>G	c.(2773-2775)ctC>ctG	p.L925L	STAG1_ENST00000434713.2_Intron|STAG1_ENST00000536929.1_Silent_p.L509L|STAG1_ENST00000236698.5_Silent_p.L925L	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	925					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						GTTGCAAACTGAGAATGAGAG	0.363																																						dbGAP											0													148.0	142.0	144.0					3																	136082220		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.2775C>G	3.37:g.136082220G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O00539|Q6P275	Silent	SNP	pfam_STAG,superfamily_ARM-type_fold	p.L925	ENST00000383202.2	37	c.2775	CCDS3090.1	3																																																																																			STAG1	-	NULL	ENSG00000118007		0.363	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAG1	HGNC	protein_coding	OTTHUMT00000357366.1	245	0.00	0	G	NM_005862		136082220	136082220	-1	no_errors	ENST00000383202	ensembl	human	known	69_37n	silent	251	11.93	34	SNP	1.000	C
STAG2	10735	genome.wustl.edu	37	X	123179050	123179050	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:123179050C>T	ENST00000371160.1	+	8	789	c.499C>T	c.(499-501)Cag>Tag	p.Q167*	STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Nonsense_Mutation_p.Q167*|STAG2_ENST00000371157.3_Nonsense_Mutation_p.Q167*|STAG2_ENST00000371145.3_Nonsense_Mutation_p.Q167*|STAG2_ENST00000371144.3_Nonsense_Mutation_p.Q167*|STAG2_ENST00000354548.5_Nonsense_Mutation_p.Q98*	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	167					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						GGCTGGTCCTCAGTGGAAGAA	0.338																																						dbGAP											0													142.0	130.0	134.0					X																	123179050		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.499C>T	X.37:g.123179050C>T	ENSP00000360202:p.Gln167*	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Nonsense_Mutation	SNP	pfam_STAG,superfamily_ARM-type_fold	p.Q167*	ENST00000371160.1	37	c.499	CCDS14607.1	X	.	.	.	.	.	.	.	.	.	.	C	21.8	4.196622	0.79015	.	.	ENSG00000101972	ENST00000218089;ENST00000455404;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144;ENST00000428941;ENST00000435215	.	.	.	4.64	4.64	0.57946	.	0.130633	0.52532	D	0.000065	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-16.8477	17.0214	0.86434	0.0:1.0:0.0:0.0	.	.	.	.	X	167;167;98;167;167;167;167;167;167	.	ENSP00000218089:Q167X	Q	+	1	0	STAG2	123006731	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	4.913000	0.63341	2.025000	0.59659	0.422000	0.28245	CAG	STAG2	-	pfam_STAG	ENSG00000101972		0.338	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	STAG2	HGNC	protein_coding	OTTHUMT00000156159.2	128	0.00	0	C	NM_006603		123179050	123179050	+1	no_errors	ENST00000218089	ensembl	human	known	69_37n	nonsense	64	22.89	19	SNP	1.000	T
STAG3L4	64940	genome.wustl.edu	37	7	66774032	66774032	+	RNA	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:66774032C>G	ENST00000416602.2	+	0	473					NR_040586.1		Q8TBR4	ST3L4_HUMAN	stromal antigen 3-like 4 (pseudogene)											endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				ACATCCTCCTCCATGATGACT	0.542																																						dbGAP											0													155.0	156.0	156.0					7																	66774032		2203	4300	6503	-	-	-			0					7q11.21	2013-06-26	2013-06-26		ENSG00000106610	ENSG00000106610			33887	pseudogene	pseudogene			"""stromal antigen 3-like 4"""				Standard	NR_040585		Approved	FLJ13195, STAG3L4P	uc010laj.3	Q8TBR4	OTTHUMG00000156920		7.37:g.66774032C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H8W0	RNA	SNP	-	NULL	ENST00000416602.2	37	NULL		7																																																																																			STAG3L4	-	-	ENSG00000106610		0.542	STAG3L4-001	KNOWN	basic	processed_transcript	STAG3L4	HGNC	pseudogene	OTTHUMT00000346611.1	153	0.00	0	C	NM_022906		66774032	66774032	+1	no_errors	ENST00000416602	ensembl	human	known	69_37n	rna	139	22.78	41	SNP	1.000	G
STARD9	57519	genome.wustl.edu	37	15	42976632	42976632	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:42976632G>A	ENST00000290607.7	+	23	2913	c.2856G>A	c.(2854-2856)ctG>ctA	p.L952L		NM_020759.2	NP_065810.2	Q9P2P6	STAR9_HUMAN	StAR-related lipid transfer (START) domain containing 9	952					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spindle assembly (GO:0051225)	centriole (GO:0005814)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|lipid binding (GO:0008289)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			haematopoietic_and_lymphoid_tissue(1)|stomach(1)	2						TAGCATCTCTGAGGAAATCAG	0.532																																						dbGAP											0													49.0	41.0	44.0					15																	42976632		692	1590	2282	-	-	-	SO:0001819	synonymous_variant	0			AB037721	CCDS53935.1	15q15.2	2013-10-16	2007-08-16		ENSG00000159433	ENSG00000159433		"""StAR-related lipid transfer (START) domain containing"""	19162	protein-coding gene	gene with protein product		614642	"""START domain containing 9"""			10718198	Standard	NM_020759		Approved	KIAA1300	uc010udj.2	Q9P2P6	OTTHUMG00000175799	ENST00000290607.7:c.2856G>A	15.37:g.42976632G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DG2|Q6AI01|Q6ZWK0|Q9UF70	Silent	SNP	pfam_Kinesin_motor_dom,pfam_START_lipid-bd,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_START_lipid-bd,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L952	ENST00000290607.7	37	c.2856	CCDS53935.1	15																																																																																			STARD9	-	NULL	ENSG00000159433		0.532	STARD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD9	HGNC	protein_coding	OTTHUMT00000431094.1	28	0.00	0	G			42976632	42976632	+1	no_errors	ENST00000290607	ensembl	human	known	69_37n	silent	27	27.03	10	SNP	0.004	A
STARD9	57519	genome.wustl.edu	37	15	42977216	42977216	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:42977216C>T	ENST00000290607.7	+	23	3497	c.3440C>T	c.(3439-3441)tCt>tTt	p.S1147F		NM_020759.2	NP_065810.2	Q9P2P6	STAR9_HUMAN	StAR-related lipid transfer (START) domain containing 9	1147					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spindle assembly (GO:0051225)	centriole (GO:0005814)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|lipid binding (GO:0008289)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			haematopoietic_and_lymphoid_tissue(1)|stomach(1)	2						AGCCAACTATCTGAGGACTCA	0.527																																						dbGAP											0													32.0	31.0	31.0					15																	42977216		692	1590	2282	-	-	-	SO:0001583	missense	0			AB037721	CCDS53935.1	15q15.2	2013-10-16	2007-08-16		ENSG00000159433	ENSG00000159433		"""StAR-related lipid transfer (START) domain containing"""	19162	protein-coding gene	gene with protein product		614642	"""START domain containing 9"""			10718198	Standard	NM_020759		Approved	KIAA1300	uc010udj.2	Q9P2P6	OTTHUMG00000175799	ENST00000290607.7:c.3440C>T	15.37:g.42977216C>T	ENSP00000290607:p.Ser1147Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DG2|Q6AI01|Q6ZWK0|Q9UF70	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_START_lipid-bd,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_START_lipid-bd,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S1147F	ENST00000290607.7	37	c.3440	CCDS53935.1	15	.	.	.	.	.	.	.	.	.	.	C	26.4	4.734126	0.89482	.	.	ENSG00000159433	ENST00000290607	D	0.81659	-1.52	5.61	4.69	0.59074	.	.	.	.	.	D	0.84179	0.5415	L	0.52573	1.65	0.41341	D	0.987302	.	.	.	.	.	.	D	0.86284	0.1669	7	0.87932	D	0	-9.7117	15.9115	0.79477	0.1365:0.8635:0.0:0.0	.	.	.	.	F	1147	ENSP00000290607:S1147F	ENSP00000290607:S1147F	S	+	2	0	STARD9	40764508	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.747000	0.74872	1.488000	0.48433	0.650000	0.86243	TCT	STARD9	-	NULL	ENSG00000159433		0.527	STARD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD9	HGNC	protein_coding	OTTHUMT00000431094.1	37	0.00	0	C			42977216	42977216	+1	no_errors	ENST00000290607	ensembl	human	known	69_37n	missense	25	34.21	13	SNP	1.000	T
STAT1	6772	genome.wustl.edu	37	2	191862979	191862979	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:191862979G>C	ENST00000361099.3	-	8	984	c.597C>G	c.(595-597)ctC>ctG	p.L199L	STAT1_ENST00000392322.3_Silent_p.L199L|STAT1_ENST00000409465.1_Silent_p.L199L|STAT1_ENST00000540176.1_Intron|STAT1_ENST00000392323.2_Silent_p.L201L	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	199					apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			ACATCTTCTTGAGTAACAGCT	0.338																																						dbGAP											0													163.0	157.0	159.0					2																	191862979		2202	4298	6500	-	-	-	SO:0001819	synonymous_variant	0				CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"""SH2 domain containing"""	11362	protein-coding gene	gene with protein product	"""transcription factor ISGF-3 components p91/p84"""	600555	"""signal transducer and activator of transcription 1, 91kD"""			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.597C>G	2.37:g.191862979G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Silent	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT1_TAZ2-bd_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2	p.L199	ENST00000361099.3	37	c.597	CCDS2309.1	2																																																																																			STAT1	-	pfam_STAT_TF_alpha,superfamily_STAT_TF_coiled-coil	ENSG00000115415		0.338	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAT1	HGNC	protein_coding	OTTHUMT00000255997.3	151	0.00	0	G	NM_007315		191862979	191862979	-1	no_errors	ENST00000361099	ensembl	human	known	69_37n	silent	136	17.58	29	SNP	0.106	C
STAT2	6773	genome.wustl.edu	37	12	56749294	56749294	+	Missense_Mutation	SNP	T	T	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:56749294T>C	ENST00000314128.4	-	5	427	c.404A>G	c.(403-405)gAa>gGa	p.E135G	STAT2_ENST00000557235.1_Missense_Mutation_p.E131G|STAT2_ENST00000418572.2_Missense_Mutation_p.E131G			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	135					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						CACAGGTGTTTCGAGAACTGG	0.468																																						dbGAP											0													198.0	201.0	200.0					12																	56749294		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"""SH2 domain containing"""	11363	protein-coding gene	gene with protein product		600556	"""signal transducer and activator of transcription 2, 113kD"""			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.404A>G	12.37:g.56749294T>C	ENSP00000315768:p.Glu135Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Missense_Mutation	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT2_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.E135G	ENST00000314128.4	37	c.404	CCDS8917.1	12	.	.	.	.	.	.	.	.	.	.	T	7.678	0.688499	0.14973	.	.	ENSG00000170581	ENST00000314128;ENST00000557235;ENST00000553337;ENST00000418572	D;D;D	0.86769	-2.16;-2.17;-1.57	4.94	-5.86	0.02304	.	1.171420	0.06032	N	0.653262	T	0.78929	0.4361	M	0.63428	1.95	0.09310	N	1	B;B;B	0.28713	0.138;0.015;0.22	B;B;B	0.24541	0.053;0.016;0.054	T	0.61232	-0.7104	10	0.26408	T	0.33	0.3664	1.3299	0.02132	0.2091:0.277:0.1053:0.4086	.	131;131;135	B4DLC8;G3V2M6;P52630	.;.;STAT2_HUMAN	G	135;131;135;131	ENSP00000315768:E135G;ENSP00000450751:E131G;ENSP00000387354:E131G	ENSP00000315768:E135G	E	-	2	0	STAT2	55035561	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.398000	0.07259	-1.700000	0.01414	-1.967000	0.00467	GAA	STAT2	-	NULL	ENSG00000170581		0.468	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STAT2	HGNC	protein_coding	OTTHUMT00000410277.1	103	0.00	0	T	NM_005419		56749294	56749294	-1	no_errors	ENST00000314128	ensembl	human	known	69_37n	missense	45	62.18	74	SNP	0.000	C
STAT4	6775	genome.wustl.edu	37	2	191896200	191896200	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:191896200G>A	ENST00000392320.2	-	22	2401	c.2087C>T	c.(2086-2088)tCt>tTt	p.S696F	AC067945.4_ENST00000456176.1_RNA|STAT4_ENST00000358470.4_Missense_Mutation_p.S696F	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	696					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			GATAAAAACAGAAGGAACATA	0.328																																						dbGAP											0													96.0	92.0	94.0					2																	191896200		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"""SH2 domain containing"""	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.2087C>T	2.37:g.191896200G>A	ENSP00000376134:p.Ser696Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96NZ6	Missense_Mutation	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2	p.S696F	ENST00000392320.2	37	c.2087	CCDS2310.1	2	.	.	.	.	.	.	.	.	.	.	G	19.69	3.873935	0.72180	.	.	ENSG00000138378	ENST00000358470;ENST00000392320	D;D	0.96685	-4.09;-4.09	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.96334	0.8804	L	0.52573	1.65	0.80722	D	1	D;D	0.54964	0.969;0.969	P;P	0.51806	0.68;0.68	D	0.96669	0.9495	10	0.87932	D	0	-13.9893	19.1356	0.93426	0.0:0.0:1.0:0.0	.	605;696	Q53S87;Q14765	.;STAT4_HUMAN	F	696	ENSP00000351255:S696F;ENSP00000376134:S696F	ENSP00000351255:S696F	S	-	2	0	STAT4	191604445	1.000000	0.71417	0.977000	0.42913	0.681000	0.39784	6.466000	0.73543	2.826000	0.97356	0.655000	0.94253	TCT	STAT4	-	NULL	ENSG00000138378		0.328	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	STAT4	HGNC	protein_coding	OTTHUMT00000335586.1	110	0.90	1	G	NM_003151		191896200	191896200	-1	no_errors	ENST00000358470	ensembl	human	known	69_37n	missense	135	10.60	16	SNP	0.997	A
STAT4	6775	genome.wustl.edu	37	2	191927564	191927564	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:191927564C>G	ENST00000392320.2	-	9	1179	c.865G>C	c.(865-867)Gaa>Caa	p.E289Q	STAT4_ENST00000358470.4_Missense_Mutation_p.E289Q	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	289					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			GGATCACCTTCATATGTCATT	0.383																																						dbGAP											0													198.0	171.0	180.0					2																	191927564		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"""SH2 domain containing"""	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.865G>C	2.37:g.191927564C>G	ENSP00000376134:p.Glu289Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96NZ6	Missense_Mutation	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2	p.E289Q	ENST00000392320.2	37	c.865	CCDS2310.1	2	.	.	.	.	.	.	.	.	.	.	C	13.00	2.106034	0.37145	.	.	ENSG00000138378	ENST00000358470;ENST00000392320	T;T	0.60797	0.16;0.16	5.33	5.33	0.75918	STAT transcription factor, all-alpha (2);STAT transcription factor, coiled coil (1);	0.218933	0.46145	D	0.000310	T	0.50480	0.1618	L	0.33485	1.01	0.80722	D	1	B;B;B	0.22983	0.078;0.078;0.078	B;B;B	0.24394	0.053;0.053;0.053	T	0.40289	-0.9571	10	0.34782	T	0.22	-39.6502	19.2001	0.93708	0.0:1.0:0.0:0.0	.	198;289;289	Q53S87;B4DV04;Q14765	.;.;STAT4_HUMAN	Q	289	ENSP00000351255:E289Q;ENSP00000376134:E289Q	ENSP00000351255:E289Q	E	-	1	0	STAT4	191635809	1.000000	0.71417	0.955000	0.39395	0.434000	0.31775	6.576000	0.74023	2.768000	0.95171	0.655000	0.94253	GAA	STAT4	-	pfam_STAT_TF_alpha,superfamily_STAT_TF_coiled-coil	ENSG00000138378		0.383	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	STAT4	HGNC	protein_coding	OTTHUMT00000335586.1	179	0.00	0	C	NM_003151		191927564	191927564	-1	no_errors	ENST00000358470	ensembl	human	known	69_37n	missense	166	13.99	27	SNP	1.000	G
STATH	6779	genome.wustl.edu	37	4	70865397	70865397	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:70865397C>G	ENST00000246895.4	+	3	176	c.65C>G	c.(64-66)tCt>tGt	p.S22C	STATH_ENST00000381060.2_Missense_Mutation_p.S22C	NM_003154.2	NP_003145.1	P02808	STAT_HUMAN	statherin	22	Hydroxyapatite-binding; inhibits crystal growth.				biomineral tissue development (GO:0031214)|negative regulation of bone mineralization (GO:0030502)|ossification (GO:0001503)|saliva secretion (GO:0046541)	extracellular region (GO:0005576)	extracellular matrix constituent, lubricant activity (GO:0030197)|hydroxyapatite binding (GO:0046848)|structural constituent of tooth enamel (GO:0030345)			lung(2)|skin(1)	3						GCTGATTCATCTGAAGAGGTG	0.313																																						dbGAP											0													160.0	152.0	155.0					4																	70865397		2202	4299	6501	-	-	-	SO:0001583	missense	0				CCDS3533.1, CCDS33998.1	4q13.3	2012-10-02			ENSG00000126549	ENSG00000126549			11369	protein-coding gene	gene with protein product		184470				3502720	Standard	NM_003154		Approved	STR	uc003heu.1	P02808	OTTHUMG00000129394	ENST00000246895.4:c.65C>G	4.37:g.70865397C>G	ENSP00000246895:p.Ser22Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKE9|B2R4F8	Missense_Mutation	SNP	pfam_Statherin	p.S22C	ENST00000246895.4	37	c.65	CCDS3533.1	4	.	.	.	.	.	.	.	.	.	.	C	10.15	1.270350	0.23221	.	.	ENSG00000126549	ENST00000246895;ENST00000381060	.	.	.	3.3	2.43	0.29744	.	.	.	.	.	T	0.63498	0.2516	.	.	.	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.74348	0.975;0.983	T	0.50065	-0.8871	7	0.87932	D	0	.	8.4896	0.33093	0.0:0.7607:0.2393:0.0	.	22;22	A6NKE9;P02808	.;STAT_HUMAN	C	22	.	ENSP00000246895:S22C	S	+	2	0	STATH	70899986	0.842000	0.29525	0.002000	0.10522	0.359000	0.29487	0.290000	0.18975	0.926000	0.37118	0.655000	0.94253	TCT	STATH	-	pfam_Statherin	ENSG00000126549		0.313	STATH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STATH	HGNC	protein_coding	OTTHUMT00000251550.1	318	0.00	0	C	NM_003154		70865397	70865397	+1	no_errors	ENST00000246895	ensembl	human	known	69_37n	missense	212	26.64	77	SNP	0.003	G
STAU1	6780	genome.wustl.edu	37	20	47734461	47734461	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:47734461C>T	ENST00000371856.2	-	11	1772	c.1362G>A	c.(1360-1362)atG>atA	p.M454I	STAU1_ENST00000360426.4_Missense_Mutation_p.M373I|STAU1_ENST00000371802.1_Missense_Mutation_p.M379I|STAU1_ENST00000371792.1_Missense_Mutation_p.M371I|STAU1_ENST00000340954.7_Missense_Mutation_p.M373I|STAU1_ENST00000347458.5_Missense_Mutation_p.M373I|STAU1_ENST00000371828.3_Missense_Mutation_p.M379I	NM_017453.2	NP_059347.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	454					intracellular mRNA localization (GO:0008298)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|rough endoplasmic reticulum (GO:0005791)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			CTCGGGCTATCATGGCAGTTA	0.547																																						dbGAP											0													144.0	137.0	140.0					20																	47734461		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13414.1, CCDS13415.1, CCDS33481.1	20q13.1	2014-06-13	2013-06-05	2005-11-04	ENSG00000124214	ENSG00000124214			11370	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 150"""	601716	"""staufen (Drosophila, RNA-binding protein)"", ""staufen, RNA binding protein (Drosophila)"", ""staufen, RNA binding protein, homolog 1 (Drosophila)"""	STAU		8884277, 15680326	Standard	XM_005260524		Approved	PPP1R150	uc002xud.3	O95793	OTTHUMG00000032691	ENST00000371856.2:c.1362G>A	20.37:g.47734461C>T	ENSP00000360922:p.Met454Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9Z4|E1P5Y1|E1P608|Q5JW29|Q6GTM4|Q9H5B4|Q9H5B5|Q9Y3Q2	Missense_Mutation	SNP	pfam_Ds-RNA-bd,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd	p.M454I	ENST00000371856.2	37	c.1362	CCDS13414.1	20	.	.	.	.	.	.	.	.	.	.	C	17.81	3.481057	0.63849	.	.	ENSG00000124214	ENST00000371828;ENST00000340954;ENST00000371856;ENST00000360426;ENST00000347458;ENST00000371805;ENST00000371802;ENST00000371792	T;T;T;T;T;T;T	0.30182	1.55;1.54;1.55;1.54;1.54;1.55;1.54	5.81	5.81	0.92471	.	0.069929	0.85682	D	0.000000	T	0.30572	0.0769	L	0.41236	1.265	0.80722	D	1	B;B	0.15141	0.012;0.001	B;B	0.13407	0.009;0.005	T	0.02743	-1.1116	10	0.33141	T	0.24	-20.0625	20.0795	0.97766	0.0:1.0:0.0:0.0	.	454;379	O95793;Q5JW29	STAU1_HUMAN;.	I	379;373;454;373;373;373;379;371	ENSP00000360893:M379I;ENSP00000345425:M373I;ENSP00000360922:M454I;ENSP00000353604:M373I;ENSP00000323443:M373I;ENSP00000360867:M379I;ENSP00000360857:M371I	ENSP00000345425:M373I	M	-	3	0	STAU1	47167868	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.733000	0.68571	2.747000	0.94245	0.650000	0.86243	ATG	STAU1	-	NULL	ENSG00000124214		0.547	STAU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STAU1	HGNC	protein_coding	OTTHUMT00000079633.1	92	0.00	0	C	NM_017453		47734461	47734461	-1	no_errors	ENST00000371856	ensembl	human	known	69_37n	missense	129	19.88	32	SNP	1.000	T
FAM47E-STBD1	100631383	genome.wustl.edu	37	4	77230616	77230616	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:77230616G>C	ENST00000237642.6	+	2	1284	c.540G>C	c.(538-540)aaG>aaC	p.K180N	FAM47E_ENST00000515604.1_3'UTR|FAM47E-STBD1_ENST00000539752.1_Missense_Mutation_p.K31N	NM_003943.4	NP_003934.1			FAM47E-STBD1 readthrough																		ACCTGCTCAAGAACAGAGCTA	0.478																																						dbGAP											0													53.0	55.0	54.0					4																	77230616		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS58908.1	4q21.1	2013-04-23			ENSG00000118804	ENSG00000118804			44667	other	readthrough							Standard	NM_001242939		Approved				OTTHUMG00000160966	ENST00000237642.6:c.540G>C	4.37:g.77230616G>C	ENSP00000237642:p.Lys180Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_CBM_fam20,superfamily_Carb-bd-like_fold,pfscan_CBM_fam20	p.K180N	ENST00000237642.6	37	c.540	CCDS3578.1	4	.	.	.	.	.	.	.	.	.	.	G	6.305	0.424389	0.11928	.	.	ENSG00000118804	ENST00000539752;ENST00000237642	.	.	.	4.73	2.96	0.34315	.	1.456290	0.04144	N	0.320098	T	0.27559	0.0677	N	0.08118	0	0.21553	N	0.999644	B	0.17465	0.022	B	0.12156	0.007	T	0.27088	-1.0084	9	0.72032	D	0.01	2.7011	8.071	0.30689	0.0807:0.0:0.7537:0.1656	.	180	O95210	STBD1_HUMAN	N	31;180	.	ENSP00000237642:K180N	K	+	3	2	STBD1	77449640	0.716000	0.27956	0.095000	0.20976	0.002000	0.02628	1.066000	0.30604	0.665000	0.31066	0.655000	0.94253	AAG	STBD1	-	NULL	ENSG00000118804		0.478	FAM47E-STBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STBD1	HGNC	protein_coding	OTTHUMT00000252415.2	40	0.00	0	G			77230616	77230616	+1	no_errors	ENST00000237642	ensembl	human	known	69_37n	missense	52	23.53	16	SNP	0.791	C
STEAP1	26872	genome.wustl.edu	37	7	89793985	89793985	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:89793985G>C	ENST00000297205.2	+	5	1157	c.957G>C	c.(955-957)aaG>aaC	p.K319N	STEAP2-AS1_ENST00000478318.2_RNA	NM_012449.2	NP_036581.1	Q9UHE8	STEA1_HUMAN	six transmembrane epithelial antigen of the prostate 1	319					ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|transmembrane transport (GO:0055085)	cell-cell junction (GO:0005911)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	channel activity (GO:0015267)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|transporter activity (GO:0005215)			kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	14	all_hematologic(106;0.112)					AGATACTGAAGATTAGACATG	0.343																																						dbGAP											0													79.0	74.0	76.0					7																	89793985		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF186249	CCDS5614.1	7q21	2011-08-31	2005-02-21	2005-02-24	ENSG00000164647	ENSG00000164647		"""Serine peptidases / Serine peptidases"""	11378	protein-coding gene	gene with protein product		604415	"""six transmembrane epithelial antigen of the prostate"""	STEAP			Standard	NM_012449		Approved	PRSS24	uc003ujx.3	Q9UHE8	OTTHUMG00000023006	ENST00000297205.2:c.957G>C	7.37:g.89793985G>C	ENSP00000297205:p.Lys319Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1E0|O95034	Missense_Mutation	SNP	pfam_Fe3_Rdtase_TM_dom	p.K319N	ENST00000297205.2	37	c.957	CCDS5614.1	7	.	.	.	.	.	.	.	.	.	.	G	16.64	3.178696	0.57692	.	.	ENSG00000164647	ENST00000297205	T	0.09163	3.01	5.79	5.79	0.91817	.	0.201655	0.35124	N	0.003423	T	0.18923	0.0454	M	0.81239	2.535	0.43054	D	0.994662	P	0.46706	0.883	B	0.40375	0.327	T	0.01829	-1.1265	10	0.87932	D	0	-0.5254	15.1435	0.72630	0.069:0.0:0.931:0.0	.	319	Q9UHE8	STEA1_HUMAN	N	319	ENSP00000297205:K319N	ENSP00000297205:K319N	K	+	3	2	STEAP1	89631921	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.174000	0.31932	2.746000	0.94184	0.655000	0.94253	AAG	STEAP1	-	NULL	ENSG00000164647		0.343	STEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STEAP1	HGNC	protein_coding	OTTHUMT00000059327.3	54	0.00	0	G	NM_012449		89793985	89793985	+1	no_errors	ENST00000297205	ensembl	human	known	69_37n	missense	51	19.05	12	SNP	1.000	C
STEAP2	261729	genome.wustl.edu	37	7	89856709	89856709	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:89856709G>A	ENST00000287908.3	+	3	1310	c.917G>A	c.(916-918)gGa>gAa	p.G306E	STEAP2_ENST00000394621.2_Missense_Mutation_p.G306E|STEAP2_ENST00000394626.1_Missense_Mutation_p.G306E|STEAP2_ENST00000402625.2_Missense_Mutation_p.G306E|STEAP2_ENST00000394622.2_Missense_Mutation_p.G306E|STEAP2_ENST00000394632.1_Missense_Mutation_p.G306E|STEAP2_ENST00000394629.2_Missense_Mutation_p.G306E	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	306	Ferric oxidoreductase.				copper ion import (GO:0015677)|endocytosis (GO:0006897)|ferric iron import into cell (GO:0097461)|Golgi to plasma membrane transport (GO:0006893)|iron ion homeostasis (GO:0055072)|regulated secretory pathway (GO:0045055)|response to hormone (GO:0009725)	cytosol (GO:0005829)|early endosome (GO:0005769)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					AAACAGCTTGGATTACTAAGT	0.433																																						dbGAP											0													85.0	87.0	86.0					7																	89856709		2202	4299	6501	-	-	-	SO:0001583	missense	0			AF455138	CCDS5615.1, CCDS43612.1, CCDS59064.1	7q21.13	2011-09-30	2011-09-30		ENSG00000157214	ENSG00000157214			17885	protein-coding gene	gene with protein product		605094	"""prostate cancer associated protein 1"", ""six transmembrane epithelial antigen of the prostate 2"""	PCANAP1		10613842, 12095985	Standard	NM_001040665		Approved	IPCA-1, STAMP1, STMP	uc003ujz.3	Q8NFT2	OTTHUMG00000023341	ENST00000287908.3:c.917G>A	7.37:g.89856709G>A	ENSP00000287908:p.Gly306Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1F1|G5E9C6|Q6UXN6|Q6YPB1|Q8IUE7	Missense_Mutation	SNP	pfam_Fe3_Rdtase_TM_dom,pfam_NADP_OxRdtase_F420	p.G306E	ENST00000287908.3	37	c.917	CCDS5615.1	7	.	.	.	.	.	.	.	.	.	.	G	29.7	5.026995	0.93518	.	.	ENSG00000157214	ENST00000287908;ENST00000394626;ENST00000394622;ENST00000394632;ENST00000394624;ENST00000394621;ENST00000402625;ENST00000394629	D;D;D;D;D;D;D	0.96802	-4.13;-4.13;-4.13;-4.13;-4.13;-4.13;-4.13	6.04	6.04	0.98038	Flavoprotein transmembrane component (1);	0.000000	0.85682	D	0.000000	D	0.98372	0.9459	M	0.85197	2.74	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	D	0.98143	1.0437	9	.	.	.	-21.7999	20.5948	0.99439	0.0:0.0:1.0:0.0	.	306;306;306;306	G5E9C6;Q6YPB2;Q8NFT2;B5MC02	.;.;STEA2_HUMAN;.	E	306	ENSP00000287908:G306E;ENSP00000378123:G306E;ENSP00000378120:G306E;ENSP00000378128:G306E;ENSP00000378119:G306E;ENSP00000384191:G306E;ENSP00000378125:G306E	.	G	+	2	0	STEAP2	89694645	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	9.869000	0.99810	2.873000	0.98535	0.563000	0.77884	GGA	STEAP2	-	pfam_Fe3_Rdtase_TM_dom	ENSG00000157214		0.433	STEAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STEAP2	HGNC	protein_coding	OTTHUMT00000059662.4	91	0.00	0	G	NM_152999		89856709	89856709	+1	no_errors	ENST00000287908	ensembl	human	known	69_37n	missense	59	33.71	30	SNP	1.000	A
STIL	6491	genome.wustl.edu	37	1	47717300	47717300	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:47717300C>G	ENST00000360380.3	-	18	3735	c.3372G>C	c.(3370-3372)aaG>aaC	p.K1124N	STIL_ENST00000337817.5_Missense_Mutation_p.K1124N|STIL_ENST00000371877.3_Missense_Mutation_p.K1125N|STIL_ENST00000396221.2_Missense_Mutation_p.K1107N|STIL_ENST00000243182.6_Missense_Mutation_p.K1124N	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	1124					cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				GTCCATATCTCTTCATATATT	0.378																																						dbGAP											0													156.0	159.0	158.0					1																	47717300		2203	4300	6503	-	-	-	SO:0001583	missense	0			M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473			10879	protein-coding gene	gene with protein product		181590	"""TAL1 (SCL) interrupting locus"""	SIL		2209547	Standard	NM_003035		Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.3372G>C	1.37:g.47717300C>G	ENSP00000353544:p.Lys1124Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T0C5|Q68CN9	Missense_Mutation	SNP	NULL	p.K1125N	ENST00000360380.3	37	c.3375	CCDS548.1	1	.	.	.	.	.	.	.	.	.	.	C	19.97	3.924543	0.73213	.	.	ENSG00000123473	ENST00000360380;ENST00000337817;ENST00000371877;ENST00000396221;ENST00000243182	T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9	5.63	5.63	0.86233	.	0.088957	0.85682	D	0.000000	T	0.30448	0.0765	L	0.60455	1.87	0.50813	D	0.999894	P;P;P	0.50369	0.796;0.934;0.934	B;B;B	0.42827	0.399;0.399;0.399	T	0.08186	-1.0734	10	0.87932	D	0	-10.3621	14.8949	0.70636	0.0:0.9293:0.0:0.0707	.	1107;1125;1124	E9PSF2;Q15468-2;Q15468	.;.;STIL_HUMAN	N	1124;1124;1125;1107;1124	ENSP00000353544:K1124N;ENSP00000337367:K1124N;ENSP00000360944:K1125N;ENSP00000379523:K1107N;ENSP00000243182:K1124N	ENSP00000243182:K1124N	K	-	3	2	STIL	47489887	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	2.209000	0.42806	2.656000	0.90262	0.460000	0.39030	AAG	STIL	-	NULL	ENSG00000123473		0.378	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	STIL	HGNC	protein_coding	OTTHUMT00000021649.2	120	0.00	0	C	NM_003035		47717300	47717300	-1	no_errors	ENST00000371877	ensembl	human	known	69_37n	missense	84	31.15	38	SNP	1.000	G
STK17A	9263	genome.wustl.edu	37	7	43635678	43635678	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:43635678G>C	ENST00000319357.5	+	2	564	c.385G>C	c.(385-387)Gag>Cag	p.E129Q	STK17A_ENST00000462448.1_3'UTR	NM_004760.2	NP_004751.2	Q9UEE5	ST17A_HUMAN	serine/threonine kinase 17a	129	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast apoptotic process (GO:2000271)|protein phosphorylation (GO:0006468)|regulation of reactive oxygen species metabolic process (GO:2000377)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						TGAAGTTTATGAGACTGCATC	0.358																																						dbGAP											0													120.0	121.0	120.0					7																	43635678		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011420	CCDS5470.1	7p13	2008-05-15	2007-02-12		ENSG00000164543	ENSG00000164543			11395	protein-coding gene	gene with protein product	"""death-associated protein kinase-related 1"""	604726	"""serine/threonine kinase 17a (apoptosis-inducing)"""			9786912	Standard	NM_004760		Approved	DRAK1	uc003tih.3	Q9UEE5	OTTHUMG00000022825	ENST00000319357.5:c.385G>C	7.37:g.43635678G>C	ENSP00000319192:p.Glu129Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1V6|Q8IVC8	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.E129Q	ENST00000319357.5	37	c.385	CCDS5470.1	7	.	.	.	.	.	.	.	.	.	.	G	25.7	4.668902	0.88348	.	.	ENSG00000164543	ENST00000319357	T	0.66815	-0.23	4.88	4.88	0.63580	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.47852	D	0.000208	T	0.78710	0.4326	L	0.49350	1.555	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.81297	-0.0996	10	0.87932	D	0	.	18.0346	0.89296	0.0:0.0:1.0:0.0	.	129	Q9UEE5	ST17A_HUMAN	Q	129	ENSP00000319192:E129Q	ENSP00000319192:E129Q	E	+	1	0	STK17A	43602203	1.000000	0.71417	0.994000	0.49952	0.969000	0.65631	9.178000	0.94855	2.229000	0.72834	0.591000	0.81541	GAG	STK17A	-	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	ENSG00000164543		0.358	STK17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK17A	HGNC	protein_coding	OTTHUMT00000250902.1	97	0.00	0	G	NM_004760		43635678	43635678	+1	no_errors	ENST00000319357	ensembl	human	known	69_37n	missense	37	52.56	41	SNP	1.000	C
STK17A	9263	genome.wustl.edu	37	7	43664136	43664136	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:43664136G>C	ENST00000319357.5	+	7	1119	c.940G>C	c.(940-942)Gaa>Caa	p.E314Q		NM_004760.2	NP_004751.2	Q9UEE5	ST17A_HUMAN	serine/threonine kinase 17a	314	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast apoptotic process (GO:2000271)|protein phosphorylation (GO:0006468)|regulation of reactive oxygen species metabolic process (GO:2000377)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						CACTGCTGAAGAATGTCTAAA	0.393																																						dbGAP											0													64.0	59.0	60.0					7																	43664136		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011420	CCDS5470.1	7p13	2008-05-15	2007-02-12		ENSG00000164543	ENSG00000164543			11395	protein-coding gene	gene with protein product	"""death-associated protein kinase-related 1"""	604726	"""serine/threonine kinase 17a (apoptosis-inducing)"""			9786912	Standard	NM_004760		Approved	DRAK1	uc003tih.3	Q9UEE5	OTTHUMG00000022825	ENST00000319357.5:c.940G>C	7.37:g.43664136G>C	ENSP00000319192:p.Glu314Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1V6|Q8IVC8	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.E314Q	ENST00000319357.5	37	c.940	CCDS5470.1	7	.	.	.	.	.	.	.	.	.	.	G	11.81	1.750427	0.30955	.	.	ENSG00000164543	ENST00000319357	T	0.46063	0.88	4.86	4.86	0.63082	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.129717	0.33792	N	0.004556	T	0.22437	0.0541	N	0.05280	-0.08	0.80722	D	1	B	0.31026	0.304	B	0.29353	0.101	T	0.10200	-1.0640	10	0.07644	T	0.81	.	17.9903	0.89166	0.0:0.0:1.0:0.0	.	314	Q9UEE5	ST17A_HUMAN	Q	314	ENSP00000319192:E314Q	ENSP00000319192:E314Q	E	+	1	0	STK17A	43630661	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.518000	0.53451	2.217000	0.71921	0.563000	0.77884	GAA	STK17A	-	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	ENSG00000164543		0.393	STK17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK17A	HGNC	protein_coding	OTTHUMT00000250902.1	34	0.00	0	G	NM_004760		43664136	43664136	+1	no_errors	ENST00000319357	ensembl	human	known	69_37n	missense	17	34.62	9	SNP	1.000	C
STON1	11037	genome.wustl.edu	37	2	48808576	48808576	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:48808576C>T	ENST00000406226.1	+	3	999	c.804C>T	c.(802-804)ttC>ttT	p.F268F	STON1-GTF2A1L_ENST00000309827.2_Silent_p.F268F|STON1-GTF2A1L_ENST00000394754.1_Silent_p.F268F|STON1-GTF2A1L_ENST00000394751.3_Silent_p.F268F|STON1_ENST00000309835.3_Silent_p.F268F|STON1-GTF2A1L_ENST00000405008.1_Silent_p.F268F|STON1_ENST00000404752.1_Silent_p.F268F|STON1-GTF2A1L_ENST00000402114.2_Silent_p.F268F	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1	268					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)	clathrin adaptor complex (GO:0030131)				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ACACACTCTTCAGGAGTCAGC	0.443																																						dbGAP											0													74.0	71.0	72.0					2																	48808576		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF026169	CCDS1841.1	2p16.3	2008-02-05			ENSG00000243244	ENSG00000243244			17003	protein-coding gene	gene with protein product	"""stoned B homolog 1 (Drosophila)"""	605357				14504226, 10364255	Standard	NM_001198595		Approved	SBLF, stoned-b1		Q9Y6Q2	OTTHUMG00000129169	ENST00000406226.1:c.804C>T	2.37:g.48808576C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3	Silent	SNP	pfam_TFIIA_asu/bsu,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,superfamily_TFIIA_b-brl,superfamily_TFIIA_a-hlx,pfscan_Clathrin_mu_C,pfscan_SHD	p.F268	ENST00000406226.1	37	c.804	CCDS1841.1	2																																																																																			STON1-GTF2A1L	-	NULL	ENSG00000068781		0.443	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STON1-GTF2A1L	HGNC	protein_coding	OTTHUMT00000323848.2	87	0.00	0	C	NM_006873		48808576	48808576	+1	no_errors	ENST00000309827	ensembl	human	known	69_37n	silent	56	33.33	28	SNP	0.999	T
STRBP	55342	genome.wustl.edu	37	9	125898322	125898322	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:125898322G>A	ENST00000348403.5	-	16	2200	c.1771C>T	c.(1771-1773)Cag>Tag	p.Q591*	STRBP_ENST00000360998.3_Nonsense_Mutation_p.Q577*|STRBP_ENST00000447404.2_Nonsense_Mutation_p.Q591*	NM_018387.4	NP_060857.2	Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein	591					cellular component movement (GO:0006928)|mechanosensory behavior (GO:0007638)|multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						ACTCATACCTGAGGGATAATC	0.378																																						dbGAP											0													118.0	114.0	115.0					9																	125898322		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK002169	CCDS6851.1, CCDS55337.1	9q33.1-q33.3	2008-08-29	2001-11-28		ENSG00000165209	ENSG00000165209			16462	protein-coding gene	gene with protein product		611138	"""spermatid perinuclear RNA-binding protein"", ""interleukin enhancer binding factor 3-like"""	ILF3L			Standard	NM_018387		Approved	FLJ11307, SPNR	uc004bns.3	Q96SI9	OTTHUMG00000020636	ENST00000348403.5:c.1771C>T	9.37:g.125898322G>A	ENSP00000321347:p.Gln591*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q32NB9|Q9BUE1|Q9BXG4|Q9H0B4|Q9H7V1|Q9NUK4	Nonsense_Mutation	SNP	pfam_DZF,pfam_Ds-RNA-bd,smart_DZF,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd	p.Q591*	ENST00000348403.5	37	c.1771	CCDS6851.1	9	.	.	.	.	.	.	.	.	.	.	G	25.5	4.644752	0.87859	.	.	ENSG00000165209	ENST00000447404;ENST00000348403;ENST00000360998	.	.	.	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-6.4739	19.4129	0.94683	0.0:0.0:1.0:0.0	.	.	.	.	X	591;591;577	.	ENSP00000321347:Q591X	Q	-	1	0	STRBP	124938143	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.128000	0.94424	2.652000	0.90054	0.655000	0.94253	CAG	STRBP	-	NULL	ENSG00000165209		0.378	STRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRBP	HGNC	protein_coding	OTTHUMT00000053982.1	148	0.00	0	G			125898322	125898322	-1	no_errors	ENST00000348403	ensembl	human	known	69_37n	nonsense	85	35.61	47	SNP	1.000	A
STRC	161497	genome.wustl.edu	37	15	43892868	43892868	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:43892868G>C	ENST00000450892.2	-	26	4934	c.4857C>G	c.(4855-4857)ctC>ctG	p.L1619L	RNU6-554P_ENST00000410466.1_RNA|STRC_ENST00000541030.1_Silent_p.L846L	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1619					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	kinocilium (GO:0060091)|stereocilium bundle tip (GO:0032426)				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		TGCCGAGGAAGAGAGCTGCTT	0.522																																						dbGAP											0													51.0	61.0	58.0					15																	43892868		2199	4297	6496	-	-	-	SO:0001819	synonymous_variant	0			BK000138	CCDS10098.1	15q15.3	2010-02-26			ENSG00000242866	ENSG00000242866			16035	protein-coding gene	gene with protein product		606440		DFNB16		11687802, 9429146	Standard	NM_153700		Approved		uc001zsf.3	Q7RTU9	OTTHUMG00000059899	ENST00000450892.2:c.4857C>G	15.37:g.43892868G>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.L1619	ENST00000450892.2	37	c.4857	CCDS10098.1	15																																																																																			STRC	-	NULL	ENSG00000242866		0.522	STRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRC	HGNC	protein_coding	OTTHUMT00000133140.1	35	0.00	0	G	NM_153700		43892868	43892868	-1	no_errors	ENST00000450892	ensembl	human	known	69_37n	silent	25	16.67	5	SNP	0.988	C
JMJD8	339123	genome.wustl.edu	37	16	732065	732065	+	3'UTR	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:732065G>A	ENST00000293882.4	-	0	1733				LA16c-313D11.9_ENST00000567091.1_RNA|JMJD8_ENST00000412368.2_3'UTR|STUB1_ENST00000566181.2_3'UTR|LA16c-313D11.9_ENST00000571933.1_RNA|STUB1_ENST00000219548.4_Missense_Mutation_p.E220K|JMJD8_ENST00000454700.1_3'UTR|JMJD8_ENST00000609261.1_3'UTR|STUB1_ENST00000565677.1_Missense_Mutation_p.E148K|STUB1_ENST00000564370.1_Missense_Mutation_p.E148K			Q96S16	JMJD8_HUMAN	jumonji domain containing 8							extracellular vesicular exosome (GO:0070062)				breast(1)	1						TCAGGTGGATGAGAAGAGGAA	0.582																																						dbGAP											0													229.0	205.0	213.0					16																	732065		2201	4300	6501	-	-	-	SO:0001624	3_prime_UTR_variant	0				CCDS45369.1	16p13.3	2008-07-28	2008-07-28	2008-07-28		ENSG00000161999			14148	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 20"""	C16orf20			Standard	NM_001005920		Approved		uc002ciw.1	Q96S16		ENST00000293882.4:c.*729C>T	16.37:g.732065G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNS7|D3DU58|Q4PKE3|Q4VBY1|Q6GMW5|Q71RB8	Missense_Mutation	SNP	pfam_Ubox_domain,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_Ubox_domain,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E220K	ENST00000293882.4	37	c.658		16	.	.	.	.	.	.	.	.	.	.	G	31	5.073792	0.94000	.	.	ENSG00000103266	ENST00000219548	T	0.15718	2.4	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.40222	0.1108	M	0.78456	2.415	0.80722	D	1	D	0.69078	0.997	P	0.60789	0.879	T	0.23762	-1.0179	10	0.38643	T	0.18	-30.8733	17.2278	0.86975	0.0:0.0:1.0:0.0	.	220	Q9UNE7	CHIP_HUMAN	K	220	ENSP00000219548:E220K	ENSP00000219548:E220K	E	+	1	0	STUB1	672066	1.000000	0.71417	0.959000	0.39883	0.902000	0.53008	8.863000	0.92288	2.366000	0.80165	0.555000	0.69702	GAG	STUB1	-	NULL	ENSG00000103266		0.582	JMJD8-201	KNOWN	basic	protein_coding	STUB1	HGNC	protein_coding		102	0.00	0	G	NM_001005920		732065	732065	+1	no_errors	ENST00000219548	ensembl	human	known	69_37n	missense	117	12.69	17	SNP	1.000	A
STX1A	6804	genome.wustl.edu	37	7	73123384	73123384	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:73123384G>C	ENST00000222812.3	-	2	125	c.99C>G	c.(97-99)ttC>ttG	p.F33L	STX1A_ENST00000395154.3_Missense_Mutation_p.F33L|STX1A_ENST00000395155.3_Missense_Mutation_p.F33L|MIR4284_ENST00000578924.1_RNA|STX1A_ENST00000395156.3_Missense_Mutation_p.F33L	NM_004603.3	NP_004594.1	Q16623	STX1A_HUMAN	syntaxin 1A (brain)	33					calcium ion-dependent exocytosis (GO:0017156)|cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|neurotransmitter secretion (GO:0007269)|positive regulation of exocytosis (GO:0045921)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of insulin secretion (GO:0050796)|response to gravity (GO:0009629)|secretion by cell (GO:0032940)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle docking involved in exocytosis (GO:0016081)	actomyosin (GO:0042641)|cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|SNARE complex (GO:0031201)|synaptic vesicle membrane (GO:0030672)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex (GO:0070032)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin II complex (GO:0070033)	calcium channel inhibitor activity (GO:0019855)			large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(55;0.0908)|all_lung(88;0.198)				CCTGCTCAAAGAACTCATCCA	0.587																																						dbGAP											0													217.0	177.0	191.0					7																	73123384		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34655.1, CCDS55120.1	7q11.2	2008-07-18			ENSG00000106089	ENSG00000106089			11433	protein-coding gene	gene with protein product		186590		STX1		1321498	Standard	NM_001165903		Approved	HPC-1, p35-1	uc003tyx.3	Q16623	OTTHUMG00000137422	ENST00000222812.3:c.99C>G	7.37:g.73123384G>C	ENSP00000222812:p.Phe33Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	O15447|O15448|Q12936|Q75MD9|Q7Z5K3|Q9BPZ6	Missense_Mutation	SNP	pfam_Syntaxin_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.F33L	ENST00000222812.3	37	c.99	CCDS34655.1	7	.	.	.	.	.	.	.	.	.	.	G	19.27	3.795617	0.70452	.	.	ENSG00000106089	ENST00000428377;ENST00000222812;ENST00000395156;ENST00000395154;ENST00000395155	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	4.87	3.0	0.34707	t-SNARE (1);Syntaxin, N-terminal (2);	0.051913	0.85682	D	0.000000	T	0.54647	0.1871	M	0.89414	3.03	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.74674	0.972;0.981;0.984	T	0.52358	-0.8586	10	0.46703	T	0.11	-42.3366	6.5828	0.22605	0.3134:0.0:0.6866:0.0	.	33;33;33	Q7Z5K3;Q16623-3;Q16623	.;.;STX1A_HUMAN	L	33	ENSP00000222812:F33L;ENSP00000378585:F33L;ENSP00000378583:F33L;ENSP00000378584:F33L	ENSP00000222812:F33L	F	-	3	2	STX1A	72761320	1.000000	0.71417	0.994000	0.49952	0.954000	0.61252	3.262000	0.51538	0.437000	0.26423	-0.258000	0.10820	TTC	STX1A	-	pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N	ENSG00000106089		0.587	STX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STX1A	HGNC	protein_coding	OTTHUMT00000268422.1	41	0.00	0	G	NM_004603		73123384	73123384	-1	no_errors	ENST00000222812	ensembl	human	known	69_37n	missense	45	15.09	8	SNP	1.000	C
STX1B	112755	genome.wustl.edu	37	16	31004170	31004170	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:31004170G>A	ENST00000215095.5	-	10	1070	c.839C>T	c.(838-840)tCa>tTa	p.S280L	STX1B_ENST00000565419.1_3'UTR	NM_052874.3	NP_443106.1	P61266	STX1B_HUMAN	syntaxin 1B	280					intracellular protein transport (GO:0006886)|neurotransmitter transport (GO:0006836)|regulation of exocytosis (GO:0017157)|regulation of gene expression (GO:0010468)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)			breast(2)|endometrium(1)|large_intestine(5)|lung(5)	13						CCCAATGGATGACGCCAAGAC	0.582																																						dbGAP											0													72.0	58.0	63.0					16																	31004170		2197	4300	6497	-	-	-	SO:0001583	missense	0			AY028792	CCDS10699.1	16p12-p11	2008-02-05	2007-06-20	2007-06-20	ENSG00000099365	ENSG00000099365			18539	protein-coding gene	gene with protein product		601485	"""syntaxin 1B1"", ""syntaxin 1B2"""	STX1B1, STX1B2			Standard	NM_052874		Approved		uc010cad.2	P61266	OTTHUMG00000132391	ENST00000215095.5:c.839C>T	16.37:g.31004170G>A	ENSP00000215095:p.Ser280Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15531|Q2VPS2	Missense_Mutation	SNP	pfam_Syntaxin_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.S280L	ENST00000215095.5	37	c.839	CCDS10699.1	16	.	.	.	.	.	.	.	.	.	.	G	13.41	2.228678	0.39399	.	.	ENSG00000099365	ENST00000215095	T	0.32272	1.46	4.6	4.6	0.57074	.	0.000000	0.64402	D	0.000003	T	0.19248	0.0462	N	0.21373	0.66	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.06356	-1.0831	10	0.02654	T	1	-17.2455	16.2012	0.82078	0.0:0.0:1.0:0.0	.	280	P61266	STX1B_HUMAN	L	280	ENSP00000215095:S280L	ENSP00000215095:S280L	S	-	2	0	STX1B	30911671	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.447000	0.97595	2.107000	0.64212	0.561000	0.74099	TCA	STX1B	-	NULL	ENSG00000099365		0.582	STX1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STX1B	HGNC	protein_coding	OTTHUMT00000255521.2	30	0.00	0	G			31004170	31004170	-1	no_errors	ENST00000215095	ensembl	human	known	69_37n	missense	20	23.08	6	SNP	1.000	A
STX4	6810	genome.wustl.edu	37	16	31045340	31045340	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:31045340G>A	ENST00000313843.3	+	2	352	c.37G>A	c.(37-39)Gac>Aac	p.D13N	STX4_ENST00000493902.1_3'UTR|STX4_ENST00000394998.1_Missense_Mutation_p.M3I	NM_004604.3	NP_004595.2	Q12846	STX4_HUMAN	syntaxin 4	13					blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|neurotransmitter transport (GO:0006836)|platelet activation (GO:0030168)|post-Golgi vesicle-mediated transport (GO:0006892)|SNARE complex assembly (GO:0035493)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|membrane (GO:0016020)|myelin sheath adaxonal region (GO:0035749)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|specific granule (GO:0042581)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)				NS(2)|breast(1)|large_intestine(3)|lung(3)	9						GCAGGGGGATGACAGCTCGGA	0.662																																						dbGAP											0													15.0	19.0	17.0					16																	31045340		2193	4298	6491	-	-	-	SO:0001583	missense	0			AF026007	CCDS10700.1, CCDS61916.1	16p11.2	2008-02-05	2006-04-25	2006-04-25	ENSG00000103496	ENSG00000103496			11439	protein-coding gene	gene with protein product		186591	"""syntaxin 4A (placental)"""	STX4A		8206394, 16339081	Standard	NM_001272095		Approved	p35-2	uc002eak.4	Q12846	OTTHUMG00000132404	ENST00000313843.3:c.37G>A	16.37:g.31045340G>A	ENSP00000317714:p.Asp13Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MXY0|Q15525|Q6FHE8	Missense_Mutation	SNP	pfam_Syntaxin_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.D13N	ENST00000313843.3	37	c.37	CCDS10700.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.78|14.78	2.637686|2.637686	0.47049|0.47049	.|.	.|.	ENSG00000103496|ENSG00000103496	ENST00000457779;ENST00000313843|ENST00000394998	T;T|T	0.31769|0.33216	1.77;1.48|1.42	5.22|5.22	4.23|4.23	0.50019|0.50019	.|.	0.220510|.	0.47093|.	N|.	0.000242|.	T|T	0.15392|0.15392	0.0371|0.0371	N|N	0.08118|0.08118	0|0	0.30933|0.30933	N|N	0.726646|0.726646	B|B	0.06786|0.02656	0.001|0.0	B|B	0.04013|0.01281	0.001|0.0	T|T	0.07214|0.07214	-1.0784|-1.0784	10|9	0.33940|0.51188	T|T	0.23|0.08	.|.	6.1711|6.1711	0.20418|0.20418	0.153:0.0:0.847:0.0|0.153:0.0:0.847:0.0	.|.	13|3	Q12846|A8MXY0	STX4_HUMAN|.	N|I	65;13|3	ENSP00000390788:D65N;ENSP00000317714:D13N|ENSP00000378447:M3I	ENSP00000317714:D13N|ENSP00000378447:M3I	D|M	+|+	1|3	0|0	STX4|STX4	30952841|30952841	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	0.907000|0.907000	0.28531|0.28531	1.323000|1.323000	0.45263|0.45263	0.558000|0.558000	0.71614|0.71614	GAC|ATG	STX4	-	NULL	ENSG00000103496		0.662	STX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STX4	HGNC	protein_coding	OTTHUMT00000255538.3	33	0.00	0	G	NM_004604		31045340	31045340	+1	no_errors	ENST00000313843	ensembl	human	known	69_37n	missense	22	24.14	7	SNP	1.000	A
STXBP3	6814	genome.wustl.edu	37	1	109294878	109294878	+	Splice_Site	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:109294878G>A	ENST00000370008.3	+	2	99		c.e2-1			NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3						blood coagulation (GO:0007596)|membrane organization (GO:0061024)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|neutrophil degranulation (GO:0043312)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein heterooligomerization (GO:0051291)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin binding (GO:0019905)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		TTTTTAAACAGAGATAAAAGC	0.299																																						dbGAP											1	Unknown(1)	endometrium(1)											68.0	75.0	72.0					1																	109294878		2202	4299	6501	-	-	-	SO:0001630	splice_region_variant	0			D63506	CCDS790.1	1p13.3	2008-02-05			ENSG00000116266	ENSG00000116266			11446	protein-coding gene	gene with protein product		608339				10194441	Standard	NM_007269		Approved	UNC-18C	uc001dvy.3	O00186	OTTHUMG00000011122	ENST00000370008.3:c.50-1G>A	1.37:g.109294878G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K269|A8K5K7|Q53FW1|Q86YJ3|Q9UPD7	Splice_Site	SNP	-	e2-1	ENST00000370008.3	37	c.50-1	CCDS790.1	1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.065349	0.76187	.	.	ENSG00000116266	ENST00000370008	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5495	0.91058	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	STXBP3	109096401	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.832000	0.69337	2.737000	0.93849	0.655000	0.94253	.	STXBP3	-	-	ENSG00000116266		0.299	STXBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP3	HGNC	protein_coding	OTTHUMT00000030591.1	150	0.00	0	G	NM_007269	Intron	109294878	109294878	+1	no_errors	ENST00000370008	ensembl	human	known	69_37n	splice_site	108	25.00	36	SNP	1.000	A
STXBP5L	9515	genome.wustl.edu	37	3	120957891	120957891	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:120957891G>C	ENST00000273666.6	+	13	1529	c.1258G>C	c.(1258-1260)Gat>Cat	p.D420H	STXBP5L_ENST00000471454.1_Missense_Mutation_p.D420H|STXBP5L_ENST00000492541.1_Missense_Mutation_p.D420H|STXBP5L_ENST00000472879.1_Missense_Mutation_p.D420H|STXBP5L_ENST00000497029.1_Missense_Mutation_p.D420H	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	420					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		ATACTTTGCAGATTGTCCTCC	0.318																																						dbGAP											0													59.0	55.0	56.0					3																	120957891		1841	4093	5934	-	-	-	SO:0001583	missense	0			AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.1258G>C	3.37:g.120957891G>C	ENSP00000273666:p.Asp420His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G1B4|Q6PIC3	Missense_Mutation	SNP	pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Lethal2_giant,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin	p.D420H	ENST00000273666.6	37	c.1258	CCDS43137.1	3	.	.	.	.	.	.	.	.	.	.	G	19.03	3.747909	0.69533	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.69435	-0.08;-0.4;-0.4;-0.08;-0.4;-0.4	4.97	4.97	0.65823	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);	0.000000	0.85682	D	0.000000	D	0.85423	0.5693	M	0.89785	3.06	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.88212	0.2891	10	0.66056	D	0.02	-6.2549	18.4118	0.90554	0.0:0.0:1.0:0.0	.	420;420	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	H	420	ENSP00000273666:D420H;ENSP00000420019:D420H;ENSP00000419627:D420H;ENSP00000420287:D420H;ENSP00000420666:D420H;ENSP00000420167:D420H	ENSP00000273666:D420H	D	+	1	0	STXBP5L	122440581	1.000000	0.71417	1.000000	0.80357	0.457000	0.32468	9.604000	0.98317	2.582000	0.87167	0.655000	0.94253	GAT	STXBP5L	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000145087		0.318	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP5L	HGNC	protein_coding	OTTHUMT00000355256.3	77	0.00	0	G			120957891	120957891	+1	no_errors	ENST00000273666	ensembl	human	known	69_37n	missense	64	16.88	13	SNP	1.000	C
STYXL1	51657	genome.wustl.edu	37	7	75643111	75643111	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:75643111G>A	ENST00000248600.1	-	5	744	c.402C>T	c.(400-402)ttC>ttT	p.F134F	STYXL1_ENST00000451157.1_Silent_p.F134F|STYXL1_ENST00000431581.1_Silent_p.F134F|STYXL1_ENST00000359697.3_Silent_p.F134F|STYXL1_ENST00000360591.3_Intron|STYXL1_ENST00000340062.5_Intron|STYXL1_ENST00000460184.2_5'UTR	NM_016086.2	NP_057170.1	Q9Y6J8	STYL1_HUMAN	serine/threonine/tyrosine interacting-like 1	134	Rhodanese.				intracellular signal transduction (GO:0035556)|protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						ACGTGCCTGAGAAGCGCTCAT	0.587																																						dbGAP											0													220.0	210.0	213.0					7																	75643111		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF069762	CCDS5580.1	7q11.23	2011-06-09	2005-09-22	2005-09-22	ENSG00000127952	ENSG00000127952		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	18165	protein-coding gene	gene with protein product			"""dual specificity phosphatase 24 (putative)"""	DUSP24		9757831	Standard	NM_016086		Approved	MK-STYX	uc003uel.3	Q9Y6J8	OTTHUMG00000130459	ENST00000248600.1:c.402C>T	7.37:g.75643111G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UBP1|Q9UK06|Q9UK07|Q9UKG2|Q9UKG3	Silent	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_Dual-sp_phosphatase_subgr_cat	p.F134	ENST00000248600.1	37	c.402	CCDS5580.1	7																																																																																			STYXL1	-	pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom	ENSG00000127952		0.587	STYXL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	STYXL1	HGNC	protein_coding	OTTHUMT00000344825.1	61	0.00	0	G	NM_016086		75643111	75643111	-1	no_errors	ENST00000248600	ensembl	human	known	69_37n	silent	45	34.78	24	SNP	1.000	A
SUCO	51430	genome.wustl.edu	37	1	172520719	172520719	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:172520719G>C	ENST00000263688.3	+	2	349	c.130G>C	c.(130-132)Gat>Cat	p.D44H	SUCO_ENST00000610051.1_Missense_Mutation_p.D44H|SUCO_ENST00000367723.4_Missense_Mutation_p.D239H|SUCO_ENST00000608151.1_Missense_Mutation_p.D240H	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	44					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)											TTACTCTCAAGATGACAACTG	0.398																																						dbGAP											0													95.0	92.0	93.0					1																	172520719		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"""SUN-like protein 1"", ""osteopotentia"""		"""chromosome 1 open reading frame 9"""	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.130G>C	1.37:g.172520719G>C	ENSP00000263688:p.Asp44His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Missense_Mutation	SNP	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like	p.D240H	ENST00000263688.3	37	c.718	CCDS1303.1	1	.	.	.	.	.	.	.	.	.	.	G	17.62	3.434508	0.62955	.	.	ENSG00000094975	ENST00000367723;ENST00000263688	.	.	.	5.78	3.54	0.40534	.	0.351096	0.27886	N	0.017455	T	0.32734	0.0839	L	0.29908	0.895	0.34767	D	0.733337	B;D;D;D	0.55800	0.001;0.973;0.966;0.973	B;P;P;P	0.55112	0.005;0.769;0.751;0.752	T	0.33727	-0.9857	9	0.72032	D	0.01	-14.5509	7.9816	0.30188	0.0965:0.1666:0.7369:0.0	.	44;44;240;44	B4DYM4;B4DZJ3;Q5H945;Q9UBS9	.;.;.;OSPT_HUMAN	H	240;44	.	ENSP00000263688:D44H	D	+	1	0	C1orf9	170787342	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	1.298000	0.33412	1.399000	0.46721	0.585000	0.79938	GAT	SUCO	-	NULL	ENSG00000094975		0.398	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUCO	HGNC	protein_coding	OTTHUMT00000084273.1	147	0.00	0	G	NM_016227		172520719	172520719	+1	no_errors	ENST00000367723	ensembl	human	known	69_37n	missense	169	19.14	40	SNP	1.000	C
SUCO	51430	genome.wustl.edu	37	1	172558909	172558909	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:172558909G>A	ENST00000263688.3	+	18	2887	c.2668G>A	c.(2668-2670)Gaa>Aaa	p.E890K	SUCO_ENST00000610051.1_Intron|SUCO_ENST00000367723.4_Missense_Mutation_p.E1041K|SUCO_ENST00000608151.1_Missense_Mutation_p.E1042K	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	890					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)											TTTTTATGCTGAATTGCAAAA	0.353																																						dbGAP											0													90.0	94.0	93.0					1																	172558909		2200	4296	6496	-	-	-	SO:0001583	missense	0			AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"""SUN-like protein 1"", ""osteopotentia"""		"""chromosome 1 open reading frame 9"""	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.2668G>A	1.37:g.172558909G>A	ENSP00000263688:p.Glu890Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Missense_Mutation	SNP	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like	p.E1042K	ENST00000263688.3	37	c.3124	CCDS1303.1	1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.898035	0.91962	.	.	ENSG00000094975	ENST00000367723;ENST00000263688	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.75737	0.3890	M	0.74258	2.255	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.77004	0.989;0.98;0.989	T	0.77651	-0.2508	9	0.62326	D	0.03	-20.024	17.9494	0.89047	0.0:0.0:1.0:0.0	.	890;1042;890	B4DZJ3;Q5H945;Q9UBS9	.;.;OSPT_HUMAN	K	1042;890	.	ENSP00000263688:E890K	E	+	1	0	C1orf9	170825532	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	9.400000	0.97290	2.570000	0.86706	0.655000	0.94253	GAA	SUCO	-	NULL	ENSG00000094975		0.353	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUCO	HGNC	protein_coding	OTTHUMT00000084273.1	31	0.00	0	G	NM_016227		172558909	172558909	+1	no_errors	ENST00000367723	ensembl	human	known	69_37n	missense	21	25.00	7	SNP	1.000	A
SULF1	23213	genome.wustl.edu	37	8	70533349	70533349	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:70533349G>A	ENST00000260128.4	+	14	2174	c.1457G>A	c.(1456-1458)cGg>cAg	p.R486Q	SULF1_ENST00000419716.3_Missense_Mutation_p.R486Q|SULF1_ENST00000402687.4_Missense_Mutation_p.R486Q|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000458141.2_Missense_Mutation_p.R486Q	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	486					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CTCACAGTCCGGCAGAGCACG	0.517																																						dbGAP											0													83.0	82.0	82.0					8																	70533349		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.1457G>A	8.37:g.70533349G>A	ENSP00000260128:p.Arg486Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	pfam_Sulfatase,pfam_Extracellular_sulfatase_C,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase	p.R486Q	ENST00000260128.4	37	c.1457	CCDS6204.1	8	.	.	.	.	.	.	.	.	.	.	G	15.68	2.904391	0.52333	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	D;D;D;D	0.98862	-5.19;-5.19;-5.19;-5.19	5.95	5.08	0.68730	Alkaline-phosphatase-like, core domain (1);	0.206176	0.49305	D	0.000142	D	0.95667	0.8591	L	0.44542	1.39	0.09310	N	1	P	0.46656	0.882	B	0.36289	0.221	D	0.90249	0.4292	10	0.21014	T	0.42	.	10.6736	0.45772	0.0681:0.1328:0.7991:0.0	.	486	Q8IWU6	SULF1_HUMAN	Q	486	ENSP00000403040:R486Q;ENSP00000260128:R486Q;ENSP00000385704:R486Q;ENSP00000390315:R486Q	ENSP00000260128:R486Q	R	+	2	0	SULF1	70695903	0.997000	0.39634	0.017000	0.16124	0.675000	0.39556	3.500000	0.53318	1.518000	0.48934	0.655000	0.94253	CGG	SULF1	-	superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase	ENSG00000137573		0.517	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SULF1	HGNC	protein_coding	OTTHUMT00000378885.2	62	0.00	0	G	NM_015170		70533349	70533349	+1	no_errors	ENST00000260128	ensembl	human	known	69_37n	missense	35	57.32	47	SNP	0.060	A
SULF2	55959	genome.wustl.edu	37	20	46305869	46305869	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:46305869C>G	ENST00000359930.4	-	9	2054	c.1203G>C	c.(1201-1203)ttG>ttC	p.L401F	SULF2_ENST00000484875.1_Missense_Mutation_p.L401F|SULF2_ENST00000467815.1_Missense_Mutation_p.L401F|CTD-2653D5.1_ENST00000526566.2_RNA|SULF2_ENST00000361612.4_Missense_Mutation_p.L401F	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	401					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						TCTTCTTTTTCAAGTGAAACC	0.622																																						dbGAP											0													66.0	71.0	70.0					20																	46305869		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.1203G>C	20.37:g.46305869C>G	ENSP00000353007:p.Leu401Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Missense_Mutation	SNP	pfam_Sulfatase,pfam_Extracellular_sulfatase_C,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase	p.L401F	ENST00000359930.4	37	c.1203	CCDS13408.1	20	.	.	.	.	.	.	.	.	.	.	C	4.636	0.118168	0.08881	.	.	ENSG00000196562	ENST00000359930;ENST00000484875;ENST00000361612;ENST00000467815	D;D;D;D	0.96491	-4.03;-4.03;-4.03;-4.03	4.95	3.99	0.46301	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.164686	0.42053	D	0.000774	D	0.91723	0.7383	L	0.47716	1.5	0.34956	D	0.751732	B;B	0.14438	0.008;0.01	B;B	0.21546	0.028;0.035	D	0.84946	0.0868	10	0.09843	T	0.71	-10.5212	4.8756	0.13655	0.1533:0.6125:0.1486:0.0856	.	401;401	Q8IWU5-2;Q8IWU5	.;SULF2_HUMAN	F	401	ENSP00000353007:L401F;ENSP00000418290:L401F;ENSP00000354662:L401F;ENSP00000418442:L401F	ENSP00000353007:L401F	L	-	3	2	SULF2	45739276	0.317000	0.24589	1.000000	0.80357	0.853000	0.48598	-0.084000	0.11268	1.181000	0.42912	0.651000	0.88453	TTG	SULF2	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase	ENSG00000196562		0.622	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SULF2	HGNC	protein_coding	OTTHUMT00000079606.1	61	0.00	0	C	NM_018837		46305869	46305869	-1	no_errors	ENST00000359930	ensembl	human	known	69_37n	missense	61	19.74	15	SNP	0.974	G
SULT1A1	6817	genome.wustl.edu	37	16	28617453	28617453	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:28617453C>G	ENST00000395607.1	-	7	972	c.699G>C	c.(697-699)aaG>aaC	p.K233N	SULT1A1_ENST00000314752.7_Missense_Mutation_p.K233N|SULT1A1_ENST00000569554.1_Missense_Mutation_p.K233N|SULT1A1_ENST00000350842.4_Missense_Mutation_p.K155N|SULT1A1_ENST00000395609.1_Missense_Mutation_p.K233N	NM_177530.2|NM_177534.2	NP_803566.1|NP_803878.1	P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	233					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|estrogen metabolic process (GO:0008210)|flavonoid metabolic process (GO:0009812)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|flavonol 3-sulfotransferase activity (GO:0047894)|steroid sulfotransferase activity (GO:0050294)|sulfotransferase activity (GO:0008146)			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16					Acetaminophen(DB00316)|Tamoxifen(DB00675)	TAGGGTTCTTCTTCATCTCCT	0.567																																						dbGAP											0													179.0	124.0	143.0					16																	28617453		2197	4300	6497	-	-	-	SO:0001583	missense	0			U52852	CCDS10637.1, CCDS32420.1	16p12.1	2008-02-05			ENSG00000196502	ENSG00000196502	2.8.2.1	"""Sulfotransferases, cytosolic"""	11453	protein-coding gene	gene with protein product		171150		STP, STP1		8288252, 8912648	Standard	NM_177534		Approved	P-PST	uc002dqj.3	P50225	OTTHUMG00000131765	ENST00000395607.1:c.699G>C	16.37:g.28617453C>G	ENSP00000378971:p.Lys233Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2NL71|Q86U58|Q92818|Q9BVU6|Q9UGG7	Missense_Mutation	SNP	pfam_Sulfotransferase_dom	p.K233N	ENST00000395607.1	37	c.699	CCDS32420.1	16	.	.	.	.	.	.	.	.	.	.	c	11.10	1.540727	0.27563	.	.	ENSG00000196502	ENST00000314752;ENST00000350842;ENST00000395609;ENST00000395607	D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25	1.81	1.81	0.25067	Sulfotransferase domain (1);	0.324668	0.25022	N	0.033755	D	0.94621	0.8266	H	0.97158	3.95	0.28113	N	0.930901	D;D;D	0.89917	1.0;0.997;0.994	D;D;D	0.74674	0.984;0.941;0.926	D	0.87615	0.2506	10	0.87932	D	0	.	9.6694	0.40004	0.0:1.0:0.0:0.0	.	185;155;233	Q59GG0;P50225-2;P50225	.;.;ST1A1_HUMAN	N	233;155;233;233	ENSP00000321988:K233N;ENSP00000329399:K155N;ENSP00000378972:K233N;ENSP00000378971:K233N	ENSP00000321988:K233N	K	-	3	2	SULT1A1	28524954	0.192000	0.23301	1.000000	0.80357	0.167000	0.22549	0.655000	0.24933	1.347000	0.45714	0.306000	0.20318	AAG	SULT1A1	-	pfam_Sulfotransferase_dom	ENSG00000196502		0.567	SULT1A1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SULT1A1	HGNC	protein_coding	OTTHUMT00000254694.2	113	0.00	0	C	NM_001055		28617453	28617453	-1	no_errors	ENST00000314752	ensembl	human	known	69_37n	missense	105	17.32	22	SNP	1.000	G
SUMF1	285362	genome.wustl.edu	37	3	4452578	4452578	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:4452578G>A	ENST00000272902.5	-	7	960	c.925C>T	c.(925-927)Cat>Tat	p.H309Y	SUMF1_ENST00000534863.1_Missense_Mutation_p.H309Y|SUMF1_ENST00000458465.2_Missense_Mutation_p.H177Y|SUMF1_ENST00000405420.2_Missense_Mutation_p.H309Y|SUMF1_ENST00000383843.5_Missense_Mutation_p.H284Y	NM_182760.3	NP_877437.2	Q8NBK3	SUMF1_HUMAN	sulfatase modifying factor 1	309					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)	metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(3)	13		Melanoma(143;0.068)|Colorectal(144;0.233)		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)		ACAGAATGATGAACAGTCCAC	0.473																																						dbGAP											0													199.0	178.0	185.0					3																	4452578		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC017005	CCDS2564.1, CCDS54548.1, CCDS54549.1	3p26.1	2009-07-23			ENSG00000144455	ENSG00000144455			20376	protein-coding gene	gene with protein product		607939				12757705, 12757706	Standard	NM_182760		Approved	FGE, UNQ3037	uc003bpz.2	Q8NBK3	OTTHUMG00000090269	ENST00000272902.5:c.925C>T	3.37:g.4452578G>A	ENSP00000272902:p.His309Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DXK5|B7XD05|E9PGL0|G5E9B0|Q0VAC6|Q0VAC7|Q2NL78|Q53ZE4|Q6UY39|Q96AK5|Q96DK8	Missense_Mutation	SNP	pfam_FGE_dom,superfamily_C-type_lectin_fold	p.H309Y	ENST00000272902.5	37	c.925	CCDS2564.1	3	.	.	.	.	.	.	.	.	.	.	G	4.523	0.097092	0.08681	.	.	ENSG00000144455	ENST00000534982;ENST00000534863;ENST00000272902;ENST00000383843;ENST00000458465;ENST00000405420	D;D;D;D;D	0.97041	-4.22;-4.22;-4.22;-3.28;-4.22	5.42	1.43	0.22495	C-type lectin fold (1);Formylglycine-generating sulphatase enzyme domain (2);	0.233118	0.51477	N	0.000090	D	0.83064	0.5173	N	0.00263	-1.745	0.49582	D	0.9998	B;B;B;B	0.06786	0.001;0.001;0.001;0.0	B;B;B;B	0.10450	0.005;0.002;0.005;0.001	T	0.72798	-0.4184	10	0.36615	T	0.2	-14.3806	4.7541	0.13075	0.2403:0.0:0.542:0.2177	.	177;284;309;309	E9PF05;G5E9B0;E9PGL0;Q8NBK3	.;.;.;SUMF1_HUMAN	Y	309;309;309;284;177;309	ENSP00000440421:H309Y;ENSP00000272902:H309Y;ENSP00000373355:H284Y;ENSP00000410060:H177Y;ENSP00000384977:H309Y	ENSP00000272902:H309Y	H	-	1	0	SUMF1	4427578	0.992000	0.36948	0.006000	0.13384	0.014000	0.08584	1.319000	0.33655	0.277000	0.22141	0.561000	0.74099	CAT	SUMF1	-	pfam_FGE_dom,superfamily_C-type_lectin_fold	ENSG00000144455		0.473	SUMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUMF1	HGNC	protein_coding	OTTHUMT00000206591.2	76	0.00	0	G	NM_182760		4452578	4452578	-1	no_errors	ENST00000448413	ensembl	human	known	69_37n	missense	85	15.84	16	SNP	0.926	A
PHKG1	5260	genome.wustl.edu	37	7	56147382	56147382	+	IGR	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:56147382C>G	ENST00000297373.2	-	0	1431				SUMF2_ENST00000342190.6_Missense_Mutation_p.P299A|SUMF2_ENST00000413756.1_3'UTR|SUMF2_ENST00000437307.2_3'UTR|SUMF2_ENST00000395435.2_3'UTR|SUMF2_ENST00000434526.2_3'UTR|SUMF2_ENST00000395436.2_3'UTR|SUMF2_ENST00000275607.9_3'UTR	NM_001258460.1|NM_006213.4	NP_001245389.1|NP_006204.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)						carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|tau-protein kinase activity (GO:0050321)			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CAGCGCAATTCCAAGCTCGAG	0.602											OREG0018082	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Melanoma(184;580 2064 5329 24177 35303)	dbGAP											0													63.0	67.0	66.0					7																	56147382		692	1591	2283	-	-	-	SO:0001628	intergenic_variant	0			X80590	CCDS5525.1, CCDS59057.1	7p11.2	2009-07-10			ENSG00000164776	ENSG00000164776	2.7.11.19		8930	protein-coding gene	gene with protein product		172470		PHKG		8530014	Standard	NM_001258459		Approved		uc011kdb.2	Q16816	OTTHUMG00000023869		7.37:g.56147382C>G		Somatic	1013	WXS	Illumina GAIIx	Phase_IV	B7Z1D0|F5H2S1|Q75LP5	Missense_Mutation	SNP	pfam_FGE_dom,superfamily_C-type_lectin_fold	p.P299A	ENST00000297373.2	37	c.895	CCDS5525.1	7	.	.	.	.	.	.	.	.	.	.	C	13.04	2.119842	0.37436	.	.	ENSG00000129103	ENST00000342190	D	0.91945	-2.94	3.29	1.16	0.20824	.	0.989367	0.08225	N	0.978562	T	0.79776	0.4504	N	0.08118	0	0.09310	N	0.999999	P;B	0.42908	0.793;0.356	B;B	0.36335	0.222;0.115	T	0.71510	-0.4571	10	0.36615	T	0.2	-27.2842	5.0705	0.14604	0.0:0.665:0.0:0.335	.	262;299	Q8NBJ7-4;F8WA42	.;.	A	299	ENSP00000341938:P299A	ENSP00000341938:P299A	P	+	1	0	SUMF2	56114876	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	0.026000	0.13599	0.287000	0.22375	-0.258000	0.10820	CCA	SUMF2	-	NULL	ENSG00000129103		0.602	PHKG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUMF2	HGNC	protein_coding	OTTHUMT00000251587.1	49	0.00	0	C	NM_006213		56147382	56147382	+1	no_errors	ENST00000342190	ensembl	human	known	69_37n	missense	70	11.39	9	SNP	0.002	G
SUN5	140732	genome.wustl.edu	37	20	31573676	31573676	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:31573676C>T	ENST00000356173.3	-	11	855	c.763G>A	c.(763-765)Gag>Aag	p.E255K	SUN5_ENST00000375523.3_Missense_Mutation_p.E230K	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	255	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						CGGTCACCCTCAAAGGCCCAG	0.557																																						dbGAP											0													108.0	84.0	92.0					20																	31573676		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.763G>A	20.37:g.31573676C>T	ENSP00000348496:p.Glu255Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJ82|Q5T9R0	Missense_Mutation	SNP	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like	p.E255K	ENST00000356173.3	37	c.763	CCDS13209.1	20	.	.	.	.	.	.	.	.	.	.	C	8.197	0.797360	0.16327	.	.	ENSG00000167098	ENST00000356173;ENST00000375523	T;T	0.80393	-1.37;-1.37	5.57	2.08	0.27032	Sad1/UNC-like, C-terminal (2);	0.990854	0.08214	N	0.980205	T	0.50905	0.1643	N	0.02973	-0.45	0.28948	N	0.890583	B	0.24317	0.101	B	0.25614	0.062	T	0.54931	-0.8219	10	0.05959	T	0.93	-2.5192	1.6212	0.02713	0.2937:0.4242:0.1578:0.1242	.	255	Q8TC36	SUN5_HUMAN	K	255;230	ENSP00000348496:E255K;ENSP00000364673:E230K	ENSP00000348496:E255K	E	-	1	0	SUN5	31037337	0.024000	0.19004	0.983000	0.44433	0.904000	0.53231	0.427000	0.21379	1.214000	0.43395	0.655000	0.94253	GAG	SUN5	-	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like	ENSG00000167098		0.557	SUN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUN5	HGNC	protein_coding	OTTHUMT00000078659.1	86	0.00	0	C	NM_080675		31573676	31573676	-1	no_errors	ENST00000356173	ensembl	human	known	69_37n	missense	109	15.50	20	SNP	0.488	T
SUN5	140732	genome.wustl.edu	37	20	31577481	31577481	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:31577481C>T	ENST00000356173.3	-	9	650	c.558G>A	c.(556-558)atG>atA	p.M186I	SUN5_ENST00000375523.3_Missense_Mutation_p.M161I	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	186					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						GTATCATCTTCATTATTTTCT	0.493																																						dbGAP											0													204.0	156.0	172.0					20																	31577481		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.558G>A	20.37:g.31577481C>T	ENSP00000348496:p.Met186Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJ82|Q5T9R0	Missense_Mutation	SNP	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like	p.M186I	ENST00000356173.3	37	c.558	CCDS13209.1	20	.	.	.	.	.	.	.	.	.	.	C	11.28	1.592927	0.28357	.	.	ENSG00000167098	ENST00000356173;ENST00000375523	T;T	0.10960	2.82;2.84	5.75	4.81	0.61882	.	0.208186	0.40469	N	0.001092	T	0.09992	0.0245	L	0.40543	1.245	0.80722	D	1	B	0.10296	0.003	B	0.06405	0.002	T	0.09997	-1.0649	10	0.34782	T	0.22	-23.6494	10.8012	0.46489	0.0:0.9129:0.0:0.0871	.	186	Q8TC36	SUN5_HUMAN	I	186;161	ENSP00000348496:M186I;ENSP00000364673:M161I	ENSP00000348496:M186I	M	-	3	0	SUN5	31041142	1.000000	0.71417	1.000000	0.80357	0.463000	0.32649	1.807000	0.38902	1.432000	0.47375	0.655000	0.94253	ATG	SUN5	-	NULL	ENSG00000167098		0.493	SUN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUN5	HGNC	protein_coding	OTTHUMT00000078659.1	107	0.00	0	C	NM_080675		31577481	31577481	-1	no_errors	ENST00000356173	ensembl	human	known	69_37n	missense	160	11.60	21	SNP	1.000	T
SUPT16H	11198	genome.wustl.edu	37	14	21837945	21837945	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:21837945G>T	ENST00000216297.2	-	5	932	c.594C>A	c.(592-594)ttC>ttA	p.F198L		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	198					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CTCTTTCCTTGAAGAATTTGT	0.408																																						dbGAP											0													131.0	119.0	123.0					14																	21837945		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 140 kDa subunit"""	605012	"""suppressor of Ty (S.cerevisiae) 16 homolog"""			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.594C>A	14.37:g.21837945G>T	ENSP00000216297:p.Phe198Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Missense_Mutation	SNP	pfam_FACT_Spt16p,pfam_Pept_M24_structural-domain,pfam_DUF1747,superfamily_Pept_M24_structural-domain	p.F198L	ENST00000216297.2	37	c.594	CCDS9569.1	14	.	.	.	.	.	.	.	.	.	.	G	11.53	1.667003	0.29604	.	.	ENSG00000092201	ENST00000216297;ENST00000538230	T	0.74421	-0.84	5.53	4.62	0.57501	Peptidase M24, structural domain (3);	0.000000	0.85682	D	0.000000	T	0.48223	0.1488	N	0.11870	0.19	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.42241	-0.9463	10	0.02654	T	1	-11.0643	6.4533	0.21916	0.1616:0.1502:0.6881:0.0	.	198	Q9Y5B9	SP16H_HUMAN	L	198	ENSP00000216297:F198L	ENSP00000216297:F198L	F	-	3	2	SUPT16H	20907785	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.352000	0.52239	1.306000	0.44926	0.655000	0.94253	TTC	SUPT16H	-	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain	ENSG00000092201		0.408	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUPT16H	HGNC	protein_coding	OTTHUMT00000074025.2	108	0.00	0	G			21837945	21837945	-1	no_errors	ENST00000216297	ensembl	human	known	69_37n	missense	83	23.85	26	SNP	1.000	T
SUPT5H	6829	genome.wustl.edu	37	19	39963950	39963950	+	Nonsense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:39963950C>G	ENST00000599117.1	+	25	2733	c.2366C>G	c.(2365-2367)tCa>tGa	p.S789*	SUPT5H_ENST00000402194.2_Nonsense_Mutation_p.S785*|SUPT5H_ENST00000432763.2_Nonsense_Mutation_p.S789*|SUPT5H_ENST00000359191.6_Nonsense_Mutation_p.S785*|SUPT5H_ENST00000598725.1_Nonsense_Mutation_p.S789*			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	789	9 X 7 AA approximate tandem repeats of G- S-[QR]-T-P-X-[YQ], motif CTR1.				7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			ATGTACGGCTCACAGACACCC	0.637																																						dbGAP											0													78.0	81.0	80.0					19																	39963950		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"""suppressor of Ty (S.cerevisiae) 5 homolog"""			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.2366C>G	19.37:g.39963950C>G	ENSP00000470252:p.Ser789*	Somatic		WXS	Illumina GAIIx	Phase_IV	O43279|Q59G52|Q99639	Nonsense_Mutation	SNP	pfam_TF_Spt5_NGN-domain,pfam_KOW,pfam_Spt5_N,superfamily_Translation_prot_SH3-like,smart_Transcrpt_antiterm_NusG_N,smart_KOW,pirsf_TF_Spt5	p.S789*	ENST00000599117.1	37	c.2366	CCDS12536.1	19	.	.	.	.	.	.	.	.	.	.	C	39	7.525123	0.98339	.	.	ENSG00000196235	ENST00000432763;ENST00000402194;ENST00000378524;ENST00000359191	.	.	.	4.62	4.62	0.57501	.	0.132792	0.52532	D	0.000080	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.6154	16.2395	0.82399	0.0:1.0:0.0:0.0	.	.	.	.	X	789;785;767;789	.	.	S	+	2	0	SUPT5H	44655790	1.000000	0.71417	0.982000	0.44146	0.553000	0.35397	5.454000	0.66651	2.119000	0.64992	0.557000	0.71058	TCA	SUPT5H	-	pirsf_TF_Spt5	ENSG00000196235		0.637	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SUPT5H	HGNC	protein_coding	OTTHUMT00000464918.1	30	0.00	0	C	NM_003169		39963950	39963950	+1	no_errors	ENST00000359191	ensembl	human	known	69_37n	nonsense	18	28.00	7	SNP	0.995	G
SUPT6H	6830	genome.wustl.edu	37	17	27022412	27022412	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:27022412G>C	ENST00000314616.6	+	29	4100	c.3817G>C	c.(3817-3819)Gag>Cag	p.E1273Q	SUPT6H_ENST00000347486.4_Missense_Mutation_p.E1273Q	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1273	Interaction with KDM6A. {ECO:0000250}.|S1 motif. {ECO:0000255|PROSITE- ProRule:PRU00180}.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GATTGACATTGAGAAGTTCAG	0.493																																						dbGAP											0													127.0	95.0	106.0					17																	27022412		2203	4300	6503	-	-	-	SO:0001583	missense	0			U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.3817G>C	17.37:g.27022412G>C	ENSP00000319104:p.Glu1273Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.E1273Q	ENST00000314616.6	37	c.3817	CCDS32596.1	17	.	.	.	.	.	.	.	.	.	.	G	33	5.273867	0.95459	.	.	ENSG00000109111	ENST00000314616	T	0.48201	0.82	5.8	5.8	0.92144	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);RNA-binding domain, S1 (1);Ribosomal protein S1, RNA-binding domain (2);	0.000000	0.85682	D	0.000000	T	0.71617	0.3361	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.68629	-0.5358	10	0.34782	T	0.22	-23.2767	20.0541	0.97641	0.0:0.0:1.0:0.0	.	1273	Q7KZ85	SPT6H_HUMAN	Q	1273	ENSP00000319104:E1273Q	ENSP00000319104:E1273Q	E	+	1	0	SUPT6H	24046539	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.355000	0.97087	2.737000	0.93849	0.655000	0.94253	GAG	SUPT6H	-	pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,pirsf_TF_Spt6,pfscan_Rbsml_prot_S1_RNA-bd_dom	ENSG00000109111		0.493	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SUPT6H	HGNC	protein_coding	OTTHUMT00000446422.2	73	0.00	0	G	NM_003170		27022412	27022412	+1	no_errors	ENST00000314616	ensembl	human	known	69_37n	missense	83	17.00	17	SNP	1.000	C
SURF2	6835	genome.wustl.edu	37	9	136226967	136226967	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:136226967G>T	ENST00000371964.4	+	4	520	c.479G>T	c.(478-480)gGa>gTa	p.G160V	SURF2_ENST00000495524.1_3'UTR	NM_017503.3	NP_059973.4	Q15527	SURF2_HUMAN	surfeit 2	160				G -> A (in Ref. 1; CAA84477). {ECO:0000305}.		nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|large_intestine(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05)		GATGAGGGGGGAGCTGCAAGT	0.632																																						dbGAP											0													65.0	65.0	65.0					9																	136226967		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6967.1	9q33-q34	2008-07-21			ENSG00000148291	ENSG00000148291			11475	protein-coding gene	gene with protein product	"""surfeit locus protein 2"""	185630					Standard	NM_017503		Approved		uc004cdi.2	Q15527	OTTHUMG00000020867	ENST00000371964.4:c.479G>T	9.37:g.136226967G>T	ENSP00000361032:p.Gly160Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IBP9|Q96CD1	Missense_Mutation	SNP	pfam_Surf2	p.G160V	ENST00000371964.4	37	c.479	CCDS6967.1	9	.	.	.	.	.	.	.	.	.	.	G	11.86	1.766094	0.31228	.	.	ENSG00000148291	ENST00000371964	T	0.32515	1.45	4.56	1.51	0.23008	.	0.878022	0.09715	N	0.765255	T	0.32941	0.0846	L	0.54323	1.7	0.22096	N	0.999364	P	0.46327	0.876	P	0.44597	0.454	T	0.18713	-1.0328	10	0.72032	D	0.01	-7.0005	9.2281	0.37418	0.0914:0.378:0.5305:0.0	.	160	Q15527	SURF2_HUMAN	V	160	ENSP00000361032:G160V	ENSP00000361032:G160V	G	+	2	0	SURF2	135216788	0.002000	0.14202	0.001000	0.08648	0.269000	0.26545	0.316000	0.19469	0.189000	0.20188	0.462000	0.41574	GGA	SURF2	-	pfam_Surf2	ENSG00000148291		0.632	SURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SURF2	HGNC	protein_coding	OTTHUMT00000054883.1	47	0.00	0	G	NM_017503		136226967	136226967	+1	no_errors	ENST00000371964	ensembl	human	known	69_37n	missense	45	19.64	11	SNP	0.007	T
SUSD2	56241	genome.wustl.edu	37	22	24583394	24583394	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:24583394G>C	ENST00000358321.3	+	11	2128	c.1867G>C	c.(1867-1869)Gag>Cag	p.E623Q		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	623	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						CAGTCCCCAGGAGCTGTTCCT	0.657																																						dbGAP											0													69.0	66.0	67.0					22																	24583394		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.1867G>C	22.37:g.24583394G>C	ENSP00000351075:p.Glu623Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H5Y6	Missense_Mutation	SNP	pfam_AMOP,pfam_VWF_type-D,pfam_Sushi_SCR_CCP,pfam_Somatomedin_B_dom,superfamily_Complement_control_module,superfamily_Ig_E-set,smart_AMOP,smart_VWF_type-D,smart_Sushi_SCR_CCP,pfscan_AMOP,pfscan_Somatomedin_B_dom,pfscan_Sushi_SCR_CCP	p.E623Q	ENST00000358321.3	37	c.1867	CCDS13824.1	22	.	.	.	.	.	.	.	.	.	.	G	1.484	-0.556493	0.03967	.	.	ENSG00000099994	ENST00000358321	T	0.23552	1.9	4.59	-0.931	0.10438	von Willebrand factor, type D domain (1);	0.569524	0.19160	N	0.121201	T	0.13841	0.0335	N	0.25957	0.775	0.23416	N	0.997726	B	0.12630	0.006	B	0.08055	0.003	T	0.34502	-0.9826	10	0.11182	T	0.66	-13.8341	10.9332	0.47230	0.094:0.5045:0.4015:0.0	.	623	Q9UGT4	SUSD2_HUMAN	Q	623	ENSP00000351075:E623Q	ENSP00000351075:E623Q	E	+	1	0	SUSD2	22913394	0.025000	0.19082	0.075000	0.20258	0.106000	0.19336	0.118000	0.15605	0.089000	0.17243	0.555000	0.69702	GAG	SUSD2	-	NULL	ENSG00000099994		0.657	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUSD2	HGNC	protein_coding	OTTHUMT00000320088.1	66	0.00	0	G	NM_019601		24583394	24583394	+1	no_errors	ENST00000358321	ensembl	human	known	69_37n	missense	69	31.00	31	SNP	0.557	C
SUSD5	26032	genome.wustl.edu	37	3	33195183	33195183	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:33195183G>C	ENST00000309558.3	-	5	1358	c.941C>G	c.(940-942)aCc>aGc	p.T314S		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	314					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	hyaluronic acid binding (GO:0005540)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CTGCTTTTTGGTGTCATCATC	0.512																																						dbGAP											0													47.0	47.0	47.0					3																	33195183		1934	4143	6077	-	-	-	SO:0001583	missense	0			AB011099	CCDS46787.1	3p23	2014-02-12	2006-01-13		ENSG00000173705	ENSG00000173705			29061	protein-coding gene	gene with protein product							Standard	NM_015551		Approved	KIAA0527	uc003cfo.1	O60279	OTTHUMG00000155829	ENST00000309558.3:c.941C>G	3.37:g.33195183G>C	ENSP00000308727:p.Thr314Ser	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Link,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Link,pfscan_Link,pfscan_Sushi_SCR_CCP	p.T314S	ENST00000309558.3	37	c.941	CCDS46787.1	3	.	.	.	.	.	.	.	.	.	.	G	5.878	0.346176	0.11126	.	.	ENSG00000173705	ENST00000309558	T	0.10192	2.9	5.91	1.99	0.26369	.	0.512778	0.22185	N	0.063446	T	0.11836	0.0288	M	0.62723	1.935	0.09310	N	1	B	0.18461	0.028	B	0.14578	0.011	T	0.23868	-1.0176	10	0.28530	T	0.3	-6.4054	10.6972	0.45905	0.067:0.3734:0.5596:0.0	.	314	O60279	SUSD5_HUMAN	S	314	ENSP00000308727:T314S	ENSP00000308727:T314S	T	-	2	0	SUSD5	33170187	1.000000	0.71417	0.059000	0.19551	0.210000	0.24377	1.746000	0.38288	0.080000	0.16959	-0.176000	0.13171	ACC	SUSD5	-	NULL	ENSG00000173705		0.512	SUSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUSD5	HGNC	protein_coding	OTTHUMT00000341902.1	46	0.00	0	G	XM_171054		33195183	33195183	-1	no_errors	ENST00000309558	ensembl	human	known	69_37n	missense	58	36.26	33	SNP	0.005	C
SV2C	22987	genome.wustl.edu	37	5	75587084	75587084	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:75587084G>A	ENST00000502798.2	+	7	1618	c.1176G>A	c.(1174-1176)ctG>ctA	p.L392L	RP11-466P24.6_ENST00000502589.1_RNA|SV2C_ENST00000322285.7_Silent_p.L392L	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	392					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		TAGATGAGCTGATTGAAATTG	0.428																																						dbGAP											0													129.0	124.0	126.0					5																	75587084		1990	4199	6189	-	-	-	SO:0001819	synonymous_variant	0			AB028977	CCDS43331.1, CCDS75261.1	5q13	2008-02-05			ENSG00000122012	ENSG00000122012			30670	protein-coding gene	gene with protein product		610291				10470851, 9801366	Standard	XM_005248470		Approved		uc003kei.1	Q496J9	OTTHUMG00000162384	ENST00000502798.2:c.1176G>A	5.37:g.75587084G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q496K1|Q9UPU8	Silent	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2_chordata	p.L392	ENST00000502798.2	37	c.1176	CCDS43331.1	5																																																																																			SV2C	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2_chordata	ENSG00000122012		0.428	SV2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SV2C	HGNC	protein_coding	OTTHUMT00000368700.4	149	0.00	0	G			75587084	75587084	+1	no_errors	ENST00000502798	ensembl	human	known	69_37n	silent	74	32.11	35	SNP	1.000	A
SVIL	6840	genome.wustl.edu	37	10	29747482	29747482	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:29747482C>G	ENST00000355867.4	-	37	7191	c.6439G>C	c.(6439-6441)Gac>Cac	p.D2147H	PTCHD3P1_ENST00000455774.1_RNA|SVIL_ENST00000375400.3_Missense_Mutation_p.D1721H|PTCHD3P1_ENST00000430295.1_RNA|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000445521.1_RNA|PTCHD3P1_ENST00000438202.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000535393.1_Missense_Mutation_p.D1061H|SVIL_ENST00000375398.2_Missense_Mutation_p.D2147H	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	2147					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GCTAAGACGTCTTCCACGAGG	0.522																																						dbGAP											0													69.0	77.0	74.0					10																	29747482		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.6439G>C	10.37:g.29747482C>G	ENSP00000348128:p.Asp2147His	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Gelsolin	p.D2147H	ENST00000355867.4	37	c.6439	CCDS7164.1	10	.	.	.	.	.	.	.	.	.	.	C	27.8	4.865404	0.91511	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393	T;T;T;T	0.16196	2.48;2.49;2.49;2.36	4.39	4.39	0.52855	.	0.046591	0.85682	D	0.000000	T	0.42653	0.1212	M	0.70275	2.135	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.87578	0.998;0.972;0.973	T	0.45366	-0.9266	10	0.87932	D	0	-24.0834	17.1971	0.86895	0.0:1.0:0.0:0.0	.	1061;1721;2147	F5H2Q5;O95425-2;O95425	.;.;SVIL_HUMAN	H	1721;2147;2147;1061	ENSP00000364549:D1721H;ENSP00000364547:D2147H;ENSP00000348128:D2147H;ENSP00000445472:D1061H	ENSP00000348128:D2147H	D	-	1	0	SVIL	29787488	1.000000	0.71417	0.986000	0.45419	0.992000	0.81027	7.480000	0.81109	2.264000	0.75181	0.644000	0.83932	GAC	SVIL	-	NULL	ENSG00000197321		0.522	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SVIL	HGNC	protein_coding	OTTHUMT00000047395.1	40	0.00	0	C			29747482	29747482	-1	no_errors	ENST00000355867	ensembl	human	known	69_37n	missense	30	14.29	5	SNP	1.000	G
SWAP70	23075	genome.wustl.edu	37	11	9759853	9759853	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:9759853G>A	ENST00000318950.6	+	8	1277	c.1174G>A	c.(1174-1176)Gaa>Aaa	p.E392K	SWAP70_ENST00000447399.2_Missense_Mutation_p.E334K	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit	392					isotype switching (GO:0045190)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		CACAGAGCTGGAAAGAGAGAA	0.542																																						dbGAP											0													56.0	53.0	54.0					11																	9759853		2201	4294	6495	-	-	-	SO:0001583	missense	0			AB014540	CCDS31426.1, CCDS73257.1	11p15	2013-01-10			ENSG00000133789	ENSG00000133789		"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	17070	protein-coding gene	gene with protein product		604762				9734811, 10681448	Standard	XM_005252829		Approved	KIAA0640, SWAP-70	uc001mhw.3	Q9UH65	OTTHUMG00000165865	ENST00000318950.6:c.1174G>A	11.37:g.9759853G>A	ENSP00000315630:p.Glu392Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DQV1|O75135|Q7LCY6|Q9P061|Q9P0Z8	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_EF_HAND_2,pfscan_Pleckstrin_homology	p.E392K	ENST00000318950.6	37	c.1174	CCDS31426.1	11	.	.	.	.	.	.	.	.	.	.	G	25.5	4.645905	0.87958	.	.	ENSG00000133789	ENST00000447399;ENST00000318950	T;T	0.18960	2.18;2.18	5.27	5.27	0.74061	.	0.095184	0.64402	D	0.000001	T	0.36413	0.0966	L	0.32530	0.975	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.997	D;D;D	0.80764	0.991;0.994;0.985	T	0.02539	-1.1144	10	0.37606	T	0.19	-25.145	17.815	0.88628	0.0:0.0:1.0:0.0	.	334;392;334	E7EMB1;Q9UH65;B3KUB9	.;SWP70_HUMAN;.	K	334;392	ENSP00000399056:E334K;ENSP00000315630:E392K	ENSP00000315630:E392K	E	+	1	0	SWAP70	9716429	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.117000	0.89575	2.624000	0.88883	0.585000	0.79938	GAA	SWAP70	-	NULL	ENSG00000133789		0.542	SWAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SWAP70	HGNC	protein_coding	OTTHUMT00000386766.2	68	0.00	0	G	NM_015055		9759853	9759853	+1	no_errors	ENST00000318950	ensembl	human	known	69_37n	missense	46	45.24	38	SNP	1.000	A
SWI5	375757	genome.wustl.edu	37	9	131038595	131038595	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:131038595G>C	ENST00000320188.5	+	1	171	c.171G>C	c.(169-171)ctG>ctC	p.L57L	GOLGA2_ENST00000421699.2_5'Flank|GOLGA2_ENST00000609374.1_5'Flank|SWI5_ENST00000418976.1_5'UTR|SWI5_ENST00000608796.1_5'UTR|SWI5_ENST00000495313.1_Intron|GOLGA2_ENST00000490628.1_5'Flank|SWI5_ENST00000419867.2_5'UTR	NM_001040011.1	NP_001035100.1	Q1ZZU3	SWI5_HUMAN	SWI5 recombination repair homolog (yeast)	57					cellular response to ionizing radiation (GO:0071479)|double-strand break repair via homologous recombination (GO:0000724)	nucleus (GO:0005634)|Swi5-Sfr1 complex (GO:0032798)											CGGTGCACCTGAGAGGTCGCT	0.697																																						dbGAP											0													12.0	16.0	15.0					9																	131038595		1897	4101	5998	-	-	-	SO:0001819	synonymous_variant	0			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.171G>C	9.37:g.131038595G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5SYX7|Q5SYX8|Q8N2W6	Missense_Mutation	SNP	pfam_DNA-repair_Swi5	p.E25Q	ENST00000320188.5	37	c.73	CCDS43883.1	9	.	.	.	.	.	.	.	.	.	.	G	5.065	0.197585	0.09652	.	.	ENSG00000175854	ENST00000418976	.	.	.	3.35	0.171	0.15026	.	.	.	.	.	T	0.25005	0.0607	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	T	0.27262	-1.0079	4	.	.	.	.	5.5551	0.17111	0.1258:0.4447:0.4295:0.0	.	.	.	.	Q	25	.	.	E	+	1	0	SWI5	130078416	0.004000	0.15560	0.000000	0.03702	0.004000	0.04260	0.582000	0.23834	-0.057000	0.13199	-0.243000	0.11985	GAG	SWI5	-	NULL	ENSG00000175854		0.697	SWI5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SWI5	HGNC	protein_coding		12	0.00	0	G	NM_001040011		131038595	131038595	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000418976	ensembl	human	novel	69_37n	missense	7	50.00	7	SNP	0.000	C
SYCP1	6847	genome.wustl.edu	37	1	115419390	115419390	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:115419390G>A	ENST00000369522.3	+	11	1000	c.760G>A	c.(760-762)Gaa>Aaa	p.E254K	SYCP1_ENST00000369518.1_Missense_Mutation_p.E254K	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	254					chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCAACACCTTGAACAAGAATA	0.224																																						dbGAP											0													20.0	23.0	22.0					1																	115419390		2107	4125	6232	-	-	-	SO:0001583	missense	0			D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.760G>A	1.37:g.115419390G>A	ENSP00000358535:p.Glu254Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O14963|Q5VXJ6	Missense_Mutation	SNP	pfam_SCP-1	p.E254K	ENST00000369522.3	37	c.760	CCDS879.1	1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.910755	0.52439	.	.	ENSG00000198765	ENST00000369522;ENST00000536734;ENST00000455987;ENST00000369518	T;T;T	0.56103	0.48;0.48;0.48	4.92	4.92	0.64577	.	0.107287	0.64402	D	0.000006	T	0.41858	0.1177	L	0.39898	1.24	0.39479	D	0.967857	D;D	0.53312	0.959;0.959	P;P	0.53689	0.732;0.732	T	0.20338	-1.0278	10	0.12430	T	0.62	-8.4804	15.9721	0.80027	0.0:0.0:1.0:0.0	.	254;254	B7ZLS9;Q15431	.;SYCP1_HUMAN	K	254	ENSP00000358535:E254K;ENSP00000410011:E254K;ENSP00000358531:E254K	ENSP00000358531:E254K	E	+	1	0	SYCP1	115220913	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.128000	0.50492	2.432000	0.82394	0.650000	0.86243	GAA	SYCP1	-	pfam_SCP-1	ENSG00000198765		0.224	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCP1	HGNC	protein_coding	OTTHUMT00000033386.1	45	0.00	0	G	NM_003176		115419390	115419390	+1	no_errors	ENST00000369518	ensembl	human	known	69_37n	missense	36	25.00	12	SNP	1.000	A
SYCP1	6847	genome.wustl.edu	37	1	115428913	115428913	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:115428913G>A	ENST00000369522.3	+	14	1413	c.1173G>A	c.(1171-1173)ttG>ttA	p.L391L	SYCP1_ENST00000369518.1_Silent_p.L391L	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	391					chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAGAATTATTGAGAACAGAAC	0.279																																						dbGAP											0													68.0	74.0	72.0					1																	115428913		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.1173G>A	1.37:g.115428913G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O14963|Q5VXJ6	Silent	SNP	pfam_SCP-1	p.L391	ENST00000369522.3	37	c.1173	CCDS879.1	1																																																																																			SYCP1	-	pfam_SCP-1	ENSG00000198765		0.279	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCP1	HGNC	protein_coding	OTTHUMT00000033386.1	89	0.00	0	G	NM_003176		115428913	115428913	+1	no_errors	ENST00000369518	ensembl	human	known	69_37n	silent	67	17.07	14	SNP	0.400	A
SYCP2	10388	genome.wustl.edu	37	20	58441394	58441394	+	Missense_Mutation	SNP	A	A	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:58441394A>C	ENST00000357552.3	-	41	4499	c.4274T>G	c.(4273-4275)tTt>tGt	p.F1425C	SYCP2_ENST00000371001.2_Missense_Mutation_p.F1425C			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1425					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			ATCTTTTTCAAAATTCTCCAG	0.239																																						dbGAP											0													30.0	35.0	33.0					20																	58441394		2123	4224	6347	-	-	-	SO:0001583	missense	0			Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.4274T>G	20.37:g.58441394A>C	ENSP00000350162:p.Phe1425Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	NULL	p.F1425C	ENST00000357552.3	37	c.4274	CCDS13482.1	20	.	.	.	.	.	.	.	.	.	.	A	16.86	3.238600	0.58886	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000412613	T;T	0.18810	2.19;2.19	5.5	4.39	0.52855	.	0.360531	0.27168	N	0.020605	T	0.34978	0.0916	L	0.48642	1.525	0.28456	N	0.916093	D	0.71674	0.998	D	0.63113	0.911	T	0.13980	-1.0489	10	0.72032	D	0.01	-0.4302	11.4289	0.50027	0.8648:0.0:0.0:0.1352	.	1425	Q9BX26	SYCP2_HUMAN	C	1425;1425;111	ENSP00000360040:F1425C;ENSP00000350162:F1425C	ENSP00000350162:F1425C	F	-	2	0	SYCP2	57874789	0.990000	0.36364	0.977000	0.42913	0.933000	0.57130	2.532000	0.45659	0.994000	0.38892	0.455000	0.32223	TTT	SYCP2	-	NULL	ENSG00000196074		0.239	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCP2	HGNC	protein_coding	OTTHUMT00000079930.3	67	0.00	0	A	NM_014258		58441394	58441394	-1	no_errors	ENST00000357552	ensembl	human	known	69_37n	missense	100	12.28	14	SNP	0.970	C
SYDE2	84144	genome.wustl.edu	37	1	85666146	85666146	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:85666146delG	ENST00000341460.5	-	1	583	c.534delC	c.(532-534)cccfs	p.P178fs		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	178					activation of Rho GTPase activity (GO:0032862)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		TGAGGAAGGAGGGGCCTTCCT	0.627																																						dbGAP											0													63.0	66.0	65.0					1																	85666146		1946	4153	6099	-	-	-	SO:0001589	frameshift_variant	0			AL834286	CCDS44169.1	1p22.3	2008-02-05		2005-08-09	ENSG00000097096	ENSG00000097096			25841	protein-coding gene	gene with protein product							Standard	NM_032184		Approved	FLJ13815	uc009wcm.3	Q5VT97	OTTHUMG00000009956	ENST00000341460.5:c.534delC	1.37:g.85666146delG	ENSP00000340594:p.Pro178fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VT96|Q8NDB8|Q9H8A6	Frame_Shift_Del	DEL	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.S179fs	ENST00000341460.5	37	c.534	CCDS44169.1	1																																																																																			SYDE2	-	NULL	ENSG00000097096		0.627	SYDE2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SYDE2	HGNC	protein_coding	OTTHUMT00000127989.2	36	0.00	0	G			85666146	85666146	-1	no_errors	ENST00000341460	ensembl	human	known	69_37n	frame_shift_del	25	23.53	8	DEL	0.000	-
SYMPK	8189	genome.wustl.edu	37	19	46334773	46334773	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:46334773G>C	ENST00000245934.7	-	12	1711	c.1467C>G	c.(1465-1467)atC>atG	p.I489M	AC092301.3_ENST00000601618.1_RNA	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	489					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		GGCGCCGCTTGATCAGGACGC	0.627																																						dbGAP											0													108.0	89.0	95.0					19																	46334773		2203	4300	6503	-	-	-	SO:0001583	missense	0			U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.1467C>G	19.37:g.46334773G>C	ENSP00000245934:p.Ile489Met	Somatic		WXS	Illumina GAIIx	Phase_IV	O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	pfam_DUF3453,pfam_Symplekin_C,superfamily_ARM-type_fold	p.I489M	ENST00000245934.7	37	c.1467	CCDS12676.2	19	.	.	.	.	.	.	.	.	.	.	G	18.64	3.667180	0.67814	.	.	ENSG00000125755	ENST00000245934	.	.	.	4.99	3.95	0.45737	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.67468	0.2896	L	0.51422	1.61	0.54753	D	0.999981	D;D	0.71674	0.998;0.995	D;D	0.78314	0.991;0.986	T	0.65821	-0.6075	9	0.38643	T	0.18	.	11.3615	0.49646	0.0877:0.0:0.9123:0.0	.	504;489	Q4LE61;Q92797	.;SYMPK_HUMAN	M	489	.	ENSP00000245934:I489M	I	-	3	3	SYMPK	51026613	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.365000	0.66116	1.347000	0.45714	0.650000	0.86243	ATC	SYMPK	-	superfamily_ARM-type_fold	ENSG00000125755		0.627	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYMPK	HGNC	protein_coding	OTTHUMT00000316581.1	97	0.00	0	G	NM_004819		46334773	46334773	-1	no_errors	ENST00000245934	ensembl	human	known	69_37n	missense	93	23.14	28	SNP	1.000	C
Unknown	0	genome.wustl.edu	37	3	12232086	12232086	+	IGR	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:12232086G>A								SYN2 (4858 upstream) : PPARG (96780 downstream)																							AGACCATCCGGAGCTTGAGGA	0.527																																						dbGAP											0													104.0	108.0	106.0					3																	12232086		1975	4180	6155	-	-	-	SO:0001628	intergenic_variant	0																															3.37:g.12232086G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.G579E		37	c.1736		3																																																																																			SYN2	-	NULL	ENSG00000157152	0	0.527					SYN2	HGNC			76	0.00	0	G			12232086	12232086	+1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000426379	ensembl	human	known	69_37n	missense	72	14.29	12	SNP	1.000	A
SYNE1	23345	genome.wustl.edu	37	6	152720940	152720940	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:152720940G>C	ENST00000367255.5	-	48	7649	c.7048C>G	c.(7048-7050)Caa>Gaa	p.Q2350E	SYNE1_ENST00000423061.1_Missense_Mutation_p.Q2357E|SYNE1_ENST00000341594.5_Missense_Mutation_p.Q2387E|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q2350E|RP3-398G3.5_ENST00000458194.1_RNA|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q2357E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2350					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)		TGTTGACTTTGAAGTTCTTTT	0.383										HNSCC(10;0.0054)																												dbGAP											0													127.0	119.0	122.0					6																	152720940		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.7048C>G	6.37:g.152720940G>C	ENSP00000356224:p.Gln2350Glu	Somatic		WXS	Illumina GAIIx	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.Q2350E	ENST00000367255.5	37	c.7048	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	G	11.22	1.573992	0.28092	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49	6.06	5.18	0.71444	.	0.000000	0.64402	D	0.000017	T	0.32315	0.0825	M	0.70275	2.135	0.80722	D	1	P;D;D;D	0.62365	0.841;0.991;0.991;0.979	B;P;P;P	0.58013	0.206;0.831;0.831;0.671	T	0.38178	-0.9673	10	0.07175	T	0.84	.	16.6356	0.85058	0.0:0.0:0.8689:0.1311	.	2333;2350;2350;2357	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	E	2350;2357;2350;2357;2387	ENSP00000356224:Q2350E;ENSP00000396024:Q2357E;ENSP00000265368:Q2350E;ENSP00000390975:Q2357E;ENSP00000341887:Q2387E	ENSP00000265368:Q2350E	Q	-	1	0	SYNE1	152762633	1.000000	0.71417	0.999000	0.59377	0.357000	0.29423	6.172000	0.71932	1.539000	0.49286	0.655000	0.94253	CAA	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin	ENSG00000131018		0.383	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	185	0.00	0	G	NM_182961		152720940	152720940	-1	no_errors	ENST00000265368	ensembl	human	known	69_37n	missense	111	24.49	36	SNP	1.000	C
SYNE1	23345	genome.wustl.edu	37	6	152832713	152832713	+	Intron	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:152832713C>A	ENST00000367255.5	-	7	911				SYNE1_ENST00000413186.2_Intron|SYNE1_ENST00000423061.1_Missense_Mutation_p.G108V|SYNE1_ENST00000367253.4_Intron|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000265368.4_Intron|SYNE1_ENST00000466159.2_Intron|SYNE1_ENST00000367248.3_Missense_Mutation_p.G108V|SYNE1_ENST00000448038.1_Missense_Mutation_p.G108V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1						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)		AACCGGTGATCCTCTGTGCAT	0.318										HNSCC(10;0.0054)																												dbGAP											0													67.0	71.0	70.0					6																	152832713		2203	4297	6500	-	-	-	SO:0001627	intron_variant	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.310-475G>T	6.37:g.152832713C>A		Somatic		WXS	Illumina GAIIx	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.G108V	ENST00000367255.5	37	c.323	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	C	24.4	4.532281	0.85812	.	.	ENSG00000131018	ENST00000423061;ENST00000448038;ENST00000367248	D;D;D	0.94862	-3.54;-3.54;-3.54	5.5	5.5	0.81552	.	.	.	.	.	D	0.95127	0.8421	L	0.47716	1.5	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92715	0.6186	9	0.19590	T	0.45	.	19.3919	0.94585	0.0:1.0:0.0:0.0	.	108	Q8NF91-4	.	V	108	ENSP00000396024:G108V;ENSP00000390975:G108V;ENSP00000356217:G108V	ENSP00000356217:G108V	G	-	2	0	SYNE1	152874406	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.044000	0.76578	2.583000	0.87209	0.442000	0.29010	GGA	SYNE1	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000131018		0.318	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	81	0.00	0	C	NM_182961		152832713	152832713	-1	no_errors	ENST00000423061	ensembl	human	known	69_37n	missense	50	26.09	18	SNP	1.000	A
SYNE2	23224	genome.wustl.edu	37	14	64483218	64483218	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:64483218G>C	ENST00000344113.4	+	33	4968	c.4756G>C	c.(4756-4758)Gag>Cag	p.E1586Q	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Missense_Mutation_p.E1586Q|SYNE2_ENST00000554584.1_Missense_Mutation_p.E1586Q	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1586					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)		AGAATTTAATGAGCATTTAGA	0.269																																						dbGAP											0													22.0	20.0	21.0					14																	64483218		1773	4030	5803	-	-	-	SO:0001583	missense	0			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.4756G>C	14.37:g.64483218G>C	ENSP00000341781:p.Glu1586Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	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.E1586Q	ENST00000344113.4	37	c.4756	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	14.18	2.457634	0.43634	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.34667	1.35;1.35;1.35	4.95	4.04	0.47022	.	0.309240	0.27778	N	0.017896	T	0.43277	0.1240	L	0.46157	1.445	0.80722	D	1	P;D	0.55385	0.952;0.971	P;P	0.55455	0.601;0.776	T	0.18398	-1.0338	10	0.33940	T	0.23	.	11.1685	0.48558	0.1522:0.0:0.8478:0.0	.	1586;1586	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	Q	1586	ENSP00000350719:E1586Q;ENSP00000341781:E1586Q;ENSP00000452570:E1586Q	ENSP00000261678:E1586Q	E	+	1	0	SYNE2	63552971	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.133000	0.50531	1.176000	0.42840	0.561000	0.74099	GAG	SYNE2	-	NULL	ENSG00000054654		0.269	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	37	0.00	0	G	NM_182914		64483218	64483218	+1	no_errors	ENST00000358025	ensembl	human	known	69_37n	missense	18	35.71	10	SNP	1.000	C
SYNE2	23224	genome.wustl.edu	37	14	64632077	64632077	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:64632077G>C	ENST00000344113.4	+	90	16766	c.16554G>C	c.(16552-16554)gaG>gaC	p.E5518D	SYNE2_ENST00000555002.1_Missense_Mutation_p.E2152D|SYNE2_ENST00000357395.3_Missense_Mutation_p.E1903D|SYNE2_ENST00000394768.2_Missense_Mutation_p.E1903D|SYNE2_ENST00000358025.3_Missense_Mutation_p.E5518D|SYNE2_ENST00000554584.1_Intron|ESR2_ENST00000542956.1_Intron	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5518					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)		ATGAAGAAGAGAATTTGGATA	0.358																																						dbGAP											0													112.0	120.0	117.0					14																	64632077		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.16554G>C	14.37:g.64632077G>C	ENSP00000341781:p.Glu5518Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	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.E5518D	ENST00000344113.4	37	c.16554	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	10.80	1.451545	0.26074	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000555002;ENST00000394768	T;T;T;T;T	0.54071	0.6;3.88;0.59;3.94;3.88	5.93	3.16	0.36331	.	0.111999	0.39146	N	0.001447	T	0.44286	0.1286	L	0.58669	1.825	0.80722	D	1	B;B;B	0.22414	0.044;0.012;0.069	B;B;B	0.23852	0.045;0.013;0.049	T	0.29701	-1.0003	10	0.41790	T	0.15	.	5.3004	0.15776	0.2395:0.1477:0.6128:0.0	.	1903;5518;5518	Q8WXH0-7;Q8WXH0;Q8WXH0-2	.;SYNE2_HUMAN;.	D	5518;1903;5518;2152;1903	ENSP00000350719:E5518D;ENSP00000349969:E1903D;ENSP00000341781:E5518D;ENSP00000450831:E2152D;ENSP00000378249:E1903D	ENSP00000341781:E5518D	E	+	3	2	SYNE2	63701830	0.993000	0.37304	1.000000	0.80357	0.458000	0.32498	0.070000	0.14573	0.425000	0.26087	0.655000	0.94253	GAG	SYNE2	-	NULL	ENSG00000054654		0.358	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	140	0.00	0	G	NM_182914		64632077	64632077	+1	no_errors	ENST00000358025	ensembl	human	known	69_37n	missense	97	20.49	25	SNP	1.000	C
SYNE2	23224	genome.wustl.edu	37	14	64635624	64635624	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:64635624G>C	ENST00000344113.4	+	93	17147	c.16935G>C	c.(16933-16935)caG>caC	p.Q5645H	SYNE2_ENST00000555002.1_Missense_Mutation_p.Q2279H|SYNE2_ENST00000357395.3_Missense_Mutation_p.Q2030H|SYNE2_ENST00000394768.2_Missense_Mutation_p.Q2030H|SYNE2_ENST00000358025.3_Missense_Mutation_p.Q5645H|SYNE2_ENST00000554584.1_Missense_Mutation_p.Q5520H|ESR2_ENST00000542956.1_Intron	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5645					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)		CTATAAACCAGACAATTGCTG	0.418																																						dbGAP											0													93.0	83.0	87.0					14																	64635624		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.16935G>C	14.37:g.64635624G>C	ENSP00000341781:p.Gln5645His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	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.Q5645H	ENST00000344113.4	37	c.16935	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	18.41	3.618549	0.66787	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.55234	0.53;3.76;0.53;1.16;3.79;3.76	5.99	4.17	0.49024	.	0.000000	0.52532	D	0.000063	T	0.65396	0.2687	L	0.58428	1.81	0.80722	D	1	D;P;D;P;P	0.89917	0.966;0.671;1.0;0.589;0.669	P;B;D;B;B	0.87578	0.747;0.302;0.998;0.298;0.348	T	0.64223	-0.6458	10	0.39692	T	0.17	.	10.6113	0.45423	0.147:0.0:0.853:0.0	.	2030;33;5520;5645;5645	Q8WXH0-7;Q7Z362;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;SYNE2_HUMAN;.	H	5645;2030;5645;5520;5526;2279;2030	ENSP00000350719:Q5645H;ENSP00000349969:Q2030H;ENSP00000341781:Q5645H;ENSP00000452570:Q5520H;ENSP00000450831:Q2279H;ENSP00000378249:Q2030H	ENSP00000261678:Q5526H	Q	+	3	2	SYNE2	63705377	0.995000	0.38212	0.997000	0.53966	0.991000	0.79684	1.108000	0.31123	1.549000	0.49425	-0.218000	0.12543	CAG	SYNE2	-	smart_Spectrin/alpha-actinin	ENSG00000054654		0.418	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	76	0.00	0	G	NM_182914		64635624	64635624	+1	no_errors	ENST00000358025	ensembl	human	known	69_37n	missense	70	17.44	15	SNP	1.000	C
SYNGR2	9144	genome.wustl.edu	37	17	76166959	76166959	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:76166959C>G	ENST00000225777.3	+	2	220	c.161C>G	c.(160-162)tCt>tGt	p.S54C	SYNGR2_ENST00000589711.1_Intron|SYNGR2_ENST00000585591.1_Missense_Mutation_p.S54C|SYNGR2_ENST00000592456.1_3'UTR|SYNGR2_ENST00000588282.1_Missense_Mutation_p.S54C|SYNGR2_ENST00000590201.1_5'UTR			O43760	SNG2_HUMAN	synaptogyrin 2	54	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				protein targeting (GO:0006605)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)				endometrium(2)|large_intestine(1)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	7			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.0994)			GCCCACGAGTCTAAGCAGATG	0.617																																						dbGAP											0													141.0	126.0	131.0					17																	76166959		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ002308	CCDS11753.1	17q25.3	2014-09-11			ENSG00000108639	ENSG00000108639			11499	protein-coding gene	gene with protein product	"""cellugyrin"""	603926				9760194	Standard	NM_004710		Approved		uc002juu.1	O43760	OTTHUMG00000177457	ENST00000225777.3:c.161C>G	17.37:g.76166959C>G	ENSP00000225777:p.Ser54Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	O43762|Q3KQZ2|Q658S7	Missense_Mutation	SNP	pfam_MARVEL-like_dom,pirsf_Synaptogyrin	p.S54C	ENST00000225777.3	37	c.161	CCDS11753.1	17	.	.	.	.	.	.	.	.	.	.	C	10.51	1.371265	0.24771	.	.	ENSG00000108639	ENST00000225777	T	0.66099	-0.19	4.91	3.94	0.45596	Marvel (1);MARVEL-like domain (1);	1.241970	0.05506	N	0.559358	T	0.78052	0.4223	M	0.78049	2.395	0.21416	N	0.999694	D;D	0.76494	0.997;0.999	P;D	0.66847	0.87;0.947	T	0.54180	-0.8332	10	0.62326	D	0.03	-12.5271	6.8014	0.23754	0.2915:0.6192:0.0:0.0893	.	54;54	O43760;Q3KQZ2	SNG2_HUMAN;.	C	54	ENSP00000225777:S54C	ENSP00000225777:S54C	S	+	2	0	SYNGR2	73678554	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	0.874000	0.28065	1.193000	0.43086	0.561000	0.74099	TCT	SYNGR2	-	pfam_MARVEL-like_dom,pirsf_Synaptogyrin	ENSG00000108639		0.617	SYNGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNGR2	HGNC	protein_coding	OTTHUMT00000437009.2	46	0.00	0	C			76166959	76166959	+1	no_errors	ENST00000225777	ensembl	human	known	69_37n	missense	50	24.24	16	SNP	0.001	G
SYNJ2	8871	genome.wustl.edu	37	6	158517180	158517180	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:158517180G>C	ENST00000355585.4	+	27	4350	c.4275G>C	c.(4273-4275)ttG>ttC	p.L1425F	SYNJ2_ENST00000367112.1_Missense_Mutation_p.L510F|SYNJ2_ENST00000367122.2_Missense_Mutation_p.L1380F	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1425					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CTAAACTGTTGAATAACACTT	0.532																																						dbGAP											0													76.0	77.0	77.0					6																	158517180		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.4275G>C	6.37:g.158517180G>C	ENSP00000347792:p.Leu1425Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Missense_Mutation	SNP	pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N	p.L1425F	ENST00000355585.4	37	c.4275	CCDS5254.1	6	.	.	.	.	.	.	.	.	.	.	G	9.283	1.048670	0.19827	.	.	ENSG00000078269	ENST00000367122;ENST00000355585;ENST00000367112	D;D;T	0.94687	-3.49;-3.44;0.39	5.79	4.02	0.46733	.	0.659654	0.13296	N	0.398638	D	0.91212	0.7231	L	0.34521	1.04	0.32760	N	0.505251	D;P	0.57899	0.981;0.664	P;B	0.55161	0.77;0.296	D	0.88259	0.2922	10	0.49607	T	0.09	.	10.7084	0.45969	0.1425:0.0:0.8575:0.0	.	820;1425	B4DLC4;O15056	.;SYNJ2_HUMAN	F	1380;1425;510	ENSP00000356089:L1380F;ENSP00000347792:L1425F;ENSP00000356079:L510F	ENSP00000347792:L1425F	L	+	3	2	SYNJ2	158437168	0.010000	0.17322	0.025000	0.17156	0.012000	0.07955	1.029000	0.30140	2.205000	0.71048	0.528000	0.53228	TTG	SYNJ2	-	NULL	ENSG00000078269		0.532	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNJ2	HGNC	protein_coding	OTTHUMT00000042858.2	32	0.00	0	G			158517180	158517180	+1	no_errors	ENST00000355585	ensembl	human	known	69_37n	missense	18	33.33	9	SNP	0.083	C
SYNRG	11276	genome.wustl.edu	37	17	35889936	35889936	+	Intron	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:35889936C>T	ENST00000339208.6	-	19	3807				SYNRG_ENST00000346661.4_Intron|SYNRG_ENST00000502449.2_Intron|SYNRG_ENST00000585472.1_Intron|SYNRG_ENST00000394378.2_Missense_Mutation_p.M1150I|SYNRG_ENST00000591288.1_Intron|SYNRG_ENST00000345615.4_Intron	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma						endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TAATCACAGTCATCTTTTCCC	0.438																																						dbGAP											0													136.0	118.0	123.0					17																	35889936		692	1591	2283	-	-	-	SO:0001627	intron_variant	0			AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"""gamma-synergin"", ""adaptor-related protein complex 1 gamma subunit-binding protein 1"""	607291	"""AP1 gamma subunit binding protein 1"""	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.3666+6144G>A	17.37:g.35889936C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Missense_Mutation	SNP	smart_EPS15_homology,pfscan_EPS15_homology	p.M1150I	ENST00000339208.6	37	c.3450	CCDS11321.1	17	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.584292	0.00872	.	.	ENSG00000006114	ENST00000394378	T	0.36520	1.25	2.88	0.877	0.19145	.	.	.	.	.	T	0.13500	0.0327	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33085	-0.9882	9	0.02654	T	1	.	5.2297	0.15414	0.0:0.7208:0.0:0.2792	.	1150	A8MWU4	.	I	1150	ENSP00000377903:M1150I	ENSP00000377903:M1150I	M	-	3	0	SYNRG	32964049	0.000000	0.05858	0.001000	0.08648	0.054000	0.15201	0.079000	0.14782	0.284000	0.22305	-1.244000	0.01528	ATG	SYNRG	-	NULL	ENSG00000006114		0.438	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNRG	HGNC	protein_coding	OTTHUMT00000256811.2	98	0.00	0	C	NM_007247		35889936	35889936	-1	no_errors	ENST00000394378	ensembl	human	novel	69_37n	missense	56	34.12	29	SNP	0.001	T
SYT11	23208	genome.wustl.edu	37	1	155850389	155850389	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:155850389G>A	ENST00000368324.4	+	3	1213	c.960G>A	c.(958-960)aaG>aaA	p.K320K	SYT11_ENST00000539162.1_Silent_p.K13K	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	320	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				negative regulation of neurotransmitter secretion (GO:0046929)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			ACTTGCCGAAGATGGATATCA	0.517																																						dbGAP											0													190.0	176.0	180.0					1																	155850389		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D38522	CCDS1122.1	1q22	2013-01-21			ENSG00000132718	ENSG00000132718		"""Synaptotagmins"""	19239	protein-coding gene	gene with protein product		608741				11543631	Standard	NM_152280		Approved	KIAA0080, MGC10881, MGC17226, DKFZp781D015	uc001fmg.3	Q9BT88	OTTHUMG00000014105	ENST00000368324.4:c.960G>A	1.37:g.155850389G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14998|Q5W0D4|Q68CT5|Q8IXU3|Q96SU2	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin	p.K320	ENST00000368324.4	37	c.960	CCDS1122.1	1																																																																																			SYT11	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	ENSG00000132718		0.517	SYT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT11	HGNC	protein_coding	OTTHUMT00000039597.1	76	0.00	0	G	NM_152280		155850389	155850389	+1	no_errors	ENST00000368324	ensembl	human	known	69_37n	silent	84	16.83	17	SNP	1.000	A
SYT14	255928	genome.wustl.edu	37	1	210329132	210329132	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:210329132C>G	ENST00000472886.1	+	7	1245	c.1231C>G	c.(1231-1233)Ctt>Gtt	p.L411V	SYT14_ENST00000367019.1_Missense_Mutation_p.L411V|SYT14_ENST00000537238.1_Missense_Mutation_p.L373V|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000399639.2_Missense_Mutation_p.L411V|SYT14_ENST00000367015.1_Missense_Mutation_p.L373V|SYT14_ENST00000534859.1_Missense_Mutation_p.L411V|SYT14_ENST00000422431.1_Missense_Mutation_p.L456V			Q8NB59	SYT14_HUMAN	synaptotagmin XIV	411					cell death (GO:0008219)	integral component of membrane (GO:0016021)	phospholipid binding (GO:0005543)			endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		ATGTCAGTCTCTTGAACATGG	0.388																																						dbGAP											0													112.0	109.0	110.0					1																	210329132		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK091517	CCDS31014.1, CCDS53470.1, CCDS58058.1	1q32.2	2013-01-21			ENSG00000143469	ENSG00000143469		"""Synaptotagmins"""	23143	protein-coding gene	gene with protein product		610949					Standard	NM_001256006		Approved	sytXIV, FLJ34198	uc001hhs.5	Q8NB59	OTTHUMG00000036652	ENST00000472886.1:c.1231C>G	1.37:g.210329132C>G	ENSP00000418901:p.Leu411Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AJU0|B1AJU1|F5H426|Q5THX7|Q707N3|Q707N4|Q707N5|Q707N6|Q707N7	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.L456V	ENST00000472886.1	37	c.1366	CCDS31014.1	1	.	.	.	.	.	.	.	.	.	.	C	11.86	1.764144	0.31228	.	.	ENSG00000143469	ENST00000422431;ENST00000534859;ENST00000399639;ENST00000537238;ENST00000367019;ENST00000472886;ENST00000367015	T;T;T;T;T;T;T	0.20332	3.24;3.09;2.08;3.42;3.11;3.41;3.42	4.77	4.77	0.60923	.	0.153629	0.44483	D	0.000454	T	0.16385	0.0394	N	0.21240	0.645	0.43054	D	0.99466	B;B;B;B	0.26975	0.103;0.038;0.035;0.165	B;B;B;B	0.27796	0.038;0.022;0.015;0.083	T	0.07366	-1.0776	10	0.20519	T	0.43	-8.5756	17.7908	0.88552	0.0:1.0:0.0:0.0	.	439;411;411;456	A1L3Y1;Q8NB59;Q8NB59-6;F5H426	.;SYT14_HUMAN;.;.	V	456;411;411;373;411;411;373	ENSP00000389039:L456V;ENSP00000442891:L411V;ENSP00000445837:L411V;ENSP00000437423:L373V;ENSP00000355986:L411V;ENSP00000418901:L411V;ENSP00000355982:L373V	ENSP00000355982:L373V	L	+	1	0	SYT14	208395755	0.998000	0.40836	0.993000	0.49108	0.963000	0.63663	4.009000	0.57110	2.191000	0.70037	0.467000	0.42956	CTT	SYT14	-	NULL	ENSG00000143469		0.388	SYT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT14	HGNC	protein_coding	OTTHUMT00000089124.1	124	0.00	0	C	NM_153262		210329132	210329132	+1	no_errors	ENST00000422431	ensembl	human	known	69_37n	missense	134	24.72	44	SNP	0.998	G
SYT16	83851	genome.wustl.edu	37	14	62542004	62542004	+	Silent	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:62542004C>A	ENST00000430451.2	+	3	1085	c.888C>A	c.(886-888)ctC>ctA	p.L296L	RP11-355I22.5_ENST00000553990.1_lincRNA|SYT16_ENST00000446982.2_Silent_p.L296L	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	296					exocytosis (GO:0006887)					central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		TCCAAAGCCTCAGGCGCCAAT	0.537																																						dbGAP											0													82.0	83.0	83.0					14																	62542004		1992	4165	6157	-	-	-	SO:0001819	synonymous_variant	0			BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"""Synaptotagmins"""	23142	protein-coding gene	gene with protein product	"""synaptotagmin XIV-related"", "" chr14 synaptotagmin"""	610950	"""synaptotagmin XIV-like"""	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.888C>A	14.37:g.62542004C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Silent	SNP	NULL	p.L296	ENST00000430451.2	37	c.888	CCDS45121.1	14																																																																																			SYT16	-	NULL	ENSG00000139973		0.537	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	SYT16	HGNC	protein_coding	OTTHUMT00000411700.1	76	0.00	0	C	NM_031914		62542004	62542004	+1	no_errors	ENST00000446982	ensembl	human	known	69_37n	silent	46	50.00	46	SNP	0.501	A
SYT5	6861	genome.wustl.edu	37	19	55687229	55687229	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:55687229G>C	ENST00000354308.3	-	5	757	c.388C>G	c.(388-390)Ctg>Gtg	p.L130V	SYT5_ENST00000592935.1_5'Flank|CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000537500.1_Missense_Mutation_p.L130V|SYT5_ENST00000590851.1_Missense_Mutation_p.L127V	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	130	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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)		ATTGCTTGCAGAATGCCCACC	0.607																																						dbGAP											0													79.0	82.0	81.0					19																	55687229		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.388C>G	19.37:g.55687229G>C	ENSP00000346265:p.Leu130Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWJ8|B7Z300|Q86X72	Missense_Mutation	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.L130V	ENST00000354308.3	37	c.388	CCDS12919.1	19	.	.	.	.	.	.	.	.	.	.	G	7.026	0.559666	0.13436	.	.	ENSG00000129990	ENST00000537500;ENST00000354308;ENST00000543844	T;T	0.68903	-0.36;-0.36	4.55	1.1	0.20463	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);Synaptotagmin (1);	0.231431	0.36374	N	0.002634	T	0.36744	0.0978	N	0.12853	0.265	0.27118	N	0.962213	B;P;B	0.35656	0.273;0.514;0.281	B;B;B	0.31495	0.067;0.129;0.131	T	0.16070	-1.0415	10	0.27082	T	0.32	.	2.9605	0.05890	0.0898:0.2841:0.3726:0.2535	.	127;130;130	B7Z300;Q4FD32;O00445	.;.;SYT5_HUMAN	V	130;130;127	ENSP00000442896:L130V;ENSP00000346265:L130V	ENSP00000346265:L130V	L	-	1	2	SYT5	60379041	0.994000	0.37717	0.852000	0.33557	0.145000	0.21501	0.281000	0.18810	0.210000	0.20664	0.561000	0.74099	CTG	SYT5	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin	ENSG00000129990		0.607	SYT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT5	HGNC	protein_coding	OTTHUMT00000452501.1	51	0.00	0	G	NM_003180		55687229	55687229	-1	no_errors	ENST00000354308	ensembl	human	known	69_37n	missense	41	22.64	12	SNP	0.860	C
SYT6	148281	genome.wustl.edu	37	1	114640428	114640428	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:114640428C>A	ENST00000610222.1	-	6	1582	c.1436G>T	c.(1435-1437)tGg>tTg	p.W479L	SYT6_ENST00000369547.1_Missense_Mutation_p.W394L|SYT6_ENST00000609117.1_Missense_Mutation_p.W394L|SYT6_ENST00000607941.1_Missense_Mutation_p.W394L|SYT6_ENST00000393296.1_Missense_Mutation_p.W479L			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	479					acrosomal vesicle exocytosis (GO:0060478)	cell junction (GO:0030054)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	clathrin binding (GO:0030276)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		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)		CATCTCGTTCCAGTGGTCCCT	0.572																																						dbGAP											0													129.0	115.0	120.0					1																	114640428		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS871.1	1p13.1	2013-01-21			ENSG00000134207	ENSG00000134207		"""Synaptotagmins"""	18638	protein-coding gene	gene with protein product		607718				11543631	Standard	NM_205848		Approved		uc021orz.1	Q5T7P8	OTTHUMG00000011755	ENST00000610222.1:c.1436G>T	1.37:g.114640428C>A	ENSP00000476396:p.Trp479Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AMB8|B3KPK1	Missense_Mutation	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.W479L	ENST00000610222.1	37	c.1436		1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.009059	0.93346	.	.	ENSG00000134207	ENST00000369547;ENST00000393296;ENST00000369546;ENST00000369545	T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01	5.37	5.37	0.77165	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.91650	0.7361	H	0.96547	3.84	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93982	0.7259	10	0.87932	D	0	.	19.1126	0.93323	0.0:1.0:0.0:0.0	.	479;394	Q5T7P8;Q5T7P8-2	SYT6_HUMAN;.	L	394;479;394;479	ENSP00000358560:W394L;ENSP00000376974:W479L;ENSP00000358559:W394L;ENSP00000358558:W479L	ENSP00000358558:W479L	W	-	2	0	SYT6	114441951	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.780000	0.85658	2.512000	0.84698	0.462000	0.41574	TGG	SYT6	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	ENSG00000134207		0.572	SYT6-004	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	SYT6	HGNC	protein_coding	OTTHUMT00000314819.2	62	0.00	0	C	NM_205848		114640428	114640428	-1	no_errors	ENST00000369545	ensembl	human	known	69_37n	missense	66	22.35	19	SNP	1.000	A
SYTL1	84958	genome.wustl.edu	37	1	27673972	27673972	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:27673972C>G	ENST00000543823.1	+	2	714	c.252C>G	c.(250-252)ttC>ttG	p.F84L	SYTL1_ENST00000318074.5_Missense_Mutation_p.F84L			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	84	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|melanosome (GO:0042470)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GGGACTGGTTCCAGGAAGCAC	0.622																																						dbGAP											0													71.0	65.0	67.0					1																	27673972		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK027902	CCDS298.1, CCDS53286.1	1p35.3	2008-02-05			ENSG00000142765	ENSG00000142765			15584	protein-coding gene	gene with protein product		608042				12137562	Standard	NM_032872		Approved	SLP1, JFC1, FLJ14996, exophilin-7	uc001bnw.2	Q8IYJ3	OTTHUMG00000005770	ENST00000543823.1:c.252C>G	1.37:g.27673972C>G	ENSP00000440704:p.Phe84Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5SSC9|Q96BB6|Q96GU6|Q96S89|Q96SI0	Missense_Mutation	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	p.F84L	ENST00000543823.1	37	c.252	CCDS53286.1	1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.378690	0.82682	.	.	ENSG00000142765	ENST00000318074;ENST00000543823	T;T	0.59364	0.27;0.41	4.35	3.4	0.38934	Rab-binding domain (1);	0.056024	0.64402	D	0.000001	T	0.72342	0.3448	M	0.76574	2.34	0.51767	D	0.999931	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;D;D;D	0.91635	0.998;0.997;0.958;0.999	T	0.73075	-0.4097	10	0.44086	T	0.13	-24.7885	11.7141	0.51641	0.0:0.9082:0.0:0.0918	.	84;84;84;84	A8KAH3;G3V181;Q8IYJ3;Q8IYJ3-2	.;.;SYTL1_HUMAN;.	L	84	ENSP00000316464:F84L;ENSP00000440704:F84L	ENSP00000316464:F84L	F	+	3	2	SYTL1	27546559	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.659000	0.37387	2.232000	0.73038	0.561000	0.74099	TTC	SYTL1	-	pfscan_Rab-bd_domain	ENSG00000142765		0.622	SYTL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SYTL1	HGNC	protein_coding		32	0.00	0	C	NM_032872		27673972	27673972	+1	no_errors	ENST00000543823	ensembl	human	known	69_37n	missense	31	29.55	13	SNP	1.000	G
SYT6	148281	genome.wustl.edu	37	1	114640500	114640500	+	Splice_Site	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:114640500C>G	ENST00000610222.1	-	6	1511		c.e6-1		SYT6_ENST00000369547.1_Splice_Site|SYT6_ENST00000609117.1_Splice_Site|SYT6_ENST00000607941.1_Splice_Site|SYT6_ENST00000393296.1_Splice_Site			Q5T7P8	SYT6_HUMAN	synaptotagmin VI						acrosomal vesicle exocytosis (GO:0060478)	cell junction (GO:0030054)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	clathrin binding (GO:0030276)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)|transporter activity (GO:0005215)	p.?(1)		central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		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)		GTGGCCCACTCTGAGGGAGAA	0.577																																						dbGAP											1	Unknown(1)	lung(1)											72.0	67.0	69.0					1																	114640500		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS871.1	1p13.1	2013-01-21			ENSG00000134207	ENSG00000134207		"""Synaptotagmins"""	18638	protein-coding gene	gene with protein product		607718				11543631	Standard	NM_205848		Approved		uc021orz.1	Q5T7P8	OTTHUMG00000011755	ENST00000610222.1:c.1365-1G>C	1.37:g.114640500C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AMB8|B3KPK1	Splice_Site	SNP	-	e6-1	ENST00000610222.1	37	c.1365-1		1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.969155	0.74131	.	.	ENSG00000134207	ENST00000369547;ENST00000393296;ENST00000369546;ENST00000369545	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4355	0.94792	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SYT6	114442023	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	7.780000	0.85658	2.593000	0.87608	0.462000	0.41574	.	SYT6	-	-	ENSG00000134207		0.577	SYT6-004	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	SYT6	HGNC	protein_coding	OTTHUMT00000314819.2	47	0.00	0	C	NM_205848	Intron	114640500	114640500	-1	no_errors	ENST00000369545	ensembl	human	known	69_37n	splice_site	40	28.07	16	SNP	1.000	G
SYTL3	94120	genome.wustl.edu	37	6	159184342	159184342	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:159184342C>T	ENST00000297239.9	+	16	1718	c.1524C>T	c.(1522-1524)ctC>ctT	p.L508L	SYTL3_ENST00000367081.3_Silent_p.L234L|SYTL3_ENST00000360448.3_Silent_p.L440L|MIR3918_ENST00000581555.1_RNA			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	508	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	calcium-dependent phospholipid binding (GO:0005544)			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		TCAGCTGTCTCACTCTGCCAG	0.537																																						dbGAP											0													82.0	78.0	79.0					6																	159184342		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK055750	CCDS34563.1, CCDS56458.1	6q25.3	2008-07-04			ENSG00000164674	ENSG00000164674			15587	protein-coding gene	gene with protein product						11773082	Standard	NM_001242384		Approved	SLP3, exophilin-6	uc003qrp.3	Q4VX76	OTTHUMG00000015916	ENST00000297239.9:c.1524C>T	6.37:g.159184342C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q496J4|Q496J6|Q5U3B9	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	p.L508	ENST00000297239.9	37	c.1524	CCDS56458.1	6																																																																																			SYTL3	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	ENSG00000164674		0.537	SYTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYTL3	HGNC	protein_coding	OTTHUMT00000042876.1	37	0.00	0	C			159184342	159184342	+1	no_errors	ENST00000297239	ensembl	human	known	69_37n	silent	45	22.41	13	SNP	0.991	T
SZT2	23334	genome.wustl.edu	37	1	43902853	43902853	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:43902853G>C	ENST00000562955.1	+	42	5875	c.5875G>C	c.(5875-5877)Gat>Cat	p.D1959H	SZT2_ENST00000372442.1_Missense_Mutation_p.D1117H	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2016					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TTATGCTGCTGATGAGAGCTG	0.572																																						dbGAP											0													114.0	111.0	112.0					1																	43902853		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.5875G>C	1.37:g.43902853G>C	ENSP00000457168:p.Asp1959His	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	NULL	p.D1959H	ENST00000562955.1	37	c.5875	CCDS30694.2	1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.011532	0.75046	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.86	5.86	0.93980	.	0.055607	0.64402	D	0.000001	T	0.74574	0.3734	L	0.43152	1.355	0.45733	D	0.998632	D	0.89917	1.0	D	0.69479	0.964	T	0.75096	-0.3438	9	0.72032	D	0.01	.	20.1865	0.98220	0.0:0.0:1.0:0.0	.	1959	Q5T011-5	.	H	1117	.	ENSP00000361519:D1117H	D	+	1	0	SZT2	43675440	1.000000	0.71417	0.997000	0.53966	0.938000	0.57974	9.688000	0.98670	2.775000	0.95449	0.655000	0.94253	GAT	SZT2	-	NULL	ENSG00000198198		0.572	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SZT2	HGNC	protein_coding	OTTHUMT00000019517.3	79	0.00	0	G	NM_015284		43902853	43902853	+1	no_errors	ENST00000562955	ensembl	human	known	69_37n	missense	69	19.77	17	SNP	1.000	C
SZT2	23334	genome.wustl.edu	37	1	43908006	43908006	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:43908006G>A	ENST00000562955.1	+	56	7770	c.7770G>A	c.(7768-7770)caG>caA	p.Q2590Q	SZT2_ENST00000372442.1_Silent_p.Q1748Q	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2647					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CTCCCCGGCAGAGGCTCTTGC	0.612																																						dbGAP											0													40.0	43.0	42.0					1																	43908006		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.7770G>A	1.37:g.43908006G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Silent	SNP	NULL	p.Q2590	ENST00000562955.1	37	c.7770	CCDS30694.2	1																																																																																			SZT2	-	NULL	ENSG00000198198		0.612	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SZT2	HGNC	protein_coding	OTTHUMT00000019517.3	37	0.00	0	G	NM_015284		43908006	43908006	+1	no_errors	ENST00000562955	ensembl	human	known	69_37n	silent	26	33.33	13	SNP	1.000	A
SZT2	23334	genome.wustl.edu	37	1	43908579	43908579	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:43908579G>C	ENST00000562955.1	+	58	8070	c.8070G>C	c.(8068-8070)ctG>ctC	p.L2690L	SZT2_ENST00000372442.1_Silent_p.L1848L	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2747					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						AGGGCCGACTGAGTGGGTCCT	0.632																																						dbGAP											0													82.0	86.0	84.0					1																	43908579		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.8070G>C	1.37:g.43908579G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Silent	SNP	NULL	p.L2690	ENST00000562955.1	37	c.8070	CCDS30694.2	1																																																																																			SZT2	-	NULL	ENSG00000198198		0.632	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SZT2	HGNC	protein_coding	OTTHUMT00000019517.3	49	0.00	0	G	NM_015284		43908579	43908579	+1	no_errors	ENST00000562955	ensembl	human	known	69_37n	silent	42	22.22	12	SNP	1.000	C
SZT2	23334	genome.wustl.edu	37	1	43908748	43908748	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:43908748G>A	ENST00000562955.1	+	58	8239	c.8239G>A	c.(8239-8241)Gag>Aag	p.E2747K	SZT2_ENST00000372442.1_Missense_Mutation_p.E1905K	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2804					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CAAGATGGCAGAGCGCAGAGG	0.582																																						dbGAP											0													55.0	55.0	55.0					1																	43908748		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.8239G>A	1.37:g.43908748G>A	ENSP00000457168:p.Glu2747Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	NULL	p.E2747K	ENST00000562955.1	37	c.8239	CCDS30694.2	1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.279365	0.80692	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.77322	0.4113	L	0.54323	1.7	0.43145	D	0.994902	D	0.89917	1.0	D	0.85130	0.997	T	0.78003	-0.2374	9	0.66056	D	0.02	.	19.7607	0.96316	0.0:0.0:1.0:0.0	.	2747	Q5T011-5	.	K	1905	.	ENSP00000361519:E1905K	E	+	1	0	SZT2	43681335	1.000000	0.71417	0.982000	0.44146	0.992000	0.81027	9.759000	0.98931	2.686000	0.91538	0.561000	0.74099	GAG	SZT2	-	NULL	ENSG00000198198		0.582	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SZT2	HGNC	protein_coding	OTTHUMT00000019517.3	56	0.00	0	G	NM_015284		43908748	43908748	+1	no_errors	ENST00000562955	ensembl	human	known	69_37n	missense	65	25.29	22	SNP	1.000	A
TAAR1	134864	genome.wustl.edu	37	6	132966222	132966222	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:132966222G>T	ENST00000275216.1	-	1	920	c.921C>A	c.(919-921)ttC>ttA	p.F307L		NM_138327.1	NP_612200.1	Q96RJ0	TAAR1_HUMAN	trace amine associated receptor 1	307					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)|Dextroamphetamine(DB01576)|Methamphetamine(DB01577)|Propylhexedrine(DB06714)	ACCAAGGATAGAAAAATGCAT	0.318																																						dbGAP											0													57.0	56.0	57.0					6																	132966222		2203	4297	6500	-	-	-	SO:0001583	missense	0			AY180374	CCDS5158.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146399	ENSG00000146399		"""GPCR / Class A : Trace amine associated receptors"""	17734	protein-coding gene	gene with protein product		609333	"""trace amine receptor 1"""	TRAR1		11459929, 15718104	Standard	NM_138327		Approved	TAR1, TA1	uc003qdm.1	Q96RJ0	OTTHUMG00000015583	ENST00000275216.1:c.921C>A	6.37:g.132966222G>T	ENSP00000275216:p.Phe307Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M1W5|Q3MIH8|Q5VUQ1	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Trac_amin_rcpt_1,prints_Trace_amine_rcpt	p.F307L	ENST00000275216.1	37	c.921	CCDS5158.1	6	.	.	.	.	.	.	.	.	.	.	G	14.36	2.512689	0.44660	.	.	ENSG00000146399	ENST00000275216	T	0.35789	1.29	5.94	3.22	0.36961	.	0.000000	0.85682	D	0.000000	T	0.22282	0.0537	M	0.86268	2.805	0.33925	D	0.641332	P	0.52170	0.951	B	0.37091	0.241	T	0.15235	-1.0444	10	0.59425	D	0.04	-16.0179	9.0428	0.36327	0.3442:0.0:0.6558:0.0	.	307	Q96RJ0	TAAR1_HUMAN	L	307	ENSP00000275216:F307L	ENSP00000275216:F307L	F	-	3	2	TAAR1	133007915	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.337000	0.33862	0.416000	0.25844	0.557000	0.71058	TTC	TAAR1	-	pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn	ENSG00000146399		0.318	TAAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAAR1	HGNC	protein_coding	OTTHUMT00000042259.1	32	0.00	0	G	NM_138327		132966222	132966222	-1	no_errors	ENST00000275216	ensembl	human	known	69_37n	missense	29	19.44	7	SNP	1.000	T
TACR1	6869	genome.wustl.edu	37	2	75347754	75347754	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:75347754C>G	ENST00000305249.5	-	2	1295	c.530G>C	c.(529-531)aGa>aCa	p.R177T	TACR1_ENST00000497764.1_5'UTR|TACR1_ENST00000409848.3_Missense_Mutation_p.R177T	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	177					acute inflammatory response (GO:0002526)|aggressive behavior (GO:0002118)|angiotensin-mediated drinking behavior (GO:0003051)|associative learning (GO:0008306)|behavioral response to pain (GO:0048266)|detection of abiotic stimulus (GO:0009582)|eating behavior (GO:0042755)|inflammatory response (GO:0006954)|long-term memory (GO:0007616)|operant conditioning (GO:0035106)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of action potential (GO:0045760)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of ossification (GO:0045778)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of saliva secretion (GO:0046878)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|positive regulation of vasoconstriction (GO:0045907)|regulation of smooth muscle cell migration (GO:0014910)|regulation of smooth muscle cell proliferation (GO:0048660)|response to auditory stimulus (GO:0010996)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to progesterone (GO:0032570)|smooth muscle contraction involved in micturition (GO:0060083)|sperm ejaculation (GO:0042713)|tachykinin receptor signaling pathway (GO:0007217)	cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance P receptor activity (GO:0016496)|tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	GCACACGACTCTGCTGGGCAT	0.542																																					Pancreas(64;62 1268 3653 14826 43765)	dbGAP											0													99.0	90.0	93.0					2																	75347754		2203	4300	6503	-	-	-	SO:0001583	missense	0			M76675	CCDS1958.1, CCDS46345.1	2p13.1-p12	2012-08-08			ENSG00000115353	ENSG00000115353		"""GPCR / Class A : Tachykinin receptors"""	11526	protein-coding gene	gene with protein product		162323		TAC1R		1657150	Standard	NM_001058		Approved	SPR, NK1R, NKIR	uc002sng.2	P25103	OTTHUMG00000129973	ENST00000305249.5:c.530G>C	2.37:g.75347754C>G	ENSP00000303522:p.Arg177Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K150	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_NK1_rcpt,prints_Neurokn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NK3_rcpt	p.R177T	ENST00000305249.5	37	c.530	CCDS1958.1	2	.	.	.	.	.	.	.	.	.	.	C	25.0	4.592807	0.86953	.	.	ENSG00000115353	ENST00000305249;ENST00000409848	T;T	0.37058	1.22;1.22	5.67	5.67	0.87782	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.40423	0.1116	L	0.46885	1.475	0.80722	D	1	D	0.53151	0.958	P	0.46110	0.504	T	0.18241	-1.0343	10	0.52906	T	0.07	.	17.6312	0.88108	0.0:1.0:0.0:0.0	.	177	P25103	NK1R_HUMAN	T	177	ENSP00000303522:R177T;ENSP00000386448:R177T	ENSP00000303522:R177T	R	-	2	0	TACR1	75201262	0.988000	0.35896	1.000000	0.80357	0.892000	0.51952	7.273000	0.78527	2.836000	0.97738	0.655000	0.94253	AGA	TACR1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_NK1_rcpt,prints_NK3_rcpt	ENSG00000115353		0.542	TACR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TACR1	HGNC	protein_coding	OTTHUMT00000252239.3	25	0.00	0	C	NM_001058		75347754	75347754	-1	no_errors	ENST00000305249	ensembl	human	known	69_37n	missense	37	36.21	21	SNP	0.993	G
TAF1	6872	genome.wustl.edu	37	X	70683846	70683846	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:70683846G>A	ENST00000373790.4	+	38	5620	c.5569G>A	c.(5569-5571)Gag>Aag	p.E1857K	TAF1_ENST00000449580.1_Missense_Mutation_p.E1891K|TAF1_ENST00000461764.1_Intron|TAF1_ENST00000276072.3_Missense_Mutation_p.E1878K|TAF1_ENST00000423759.1_Missense_Mutation_p.E1880K	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1857	Asp/Glu-rich (acidic tail).|Protein kinase 2.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|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)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GGAGGACAGTGAGGATTTCCA	0.562																																						dbGAP											0													163.0	105.0	125.0					X																	70683846		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.5569G>A	X.37:g.70683846G>A	ENSP00000362895:p.Glu1857Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.E1891K	ENST00000373790.4	37	c.5671	CCDS35325.1	X	.	.	.	.	.	.	.	.	.	.	g	34	5.396936	0.96009	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.16457	2.77;2.34;2.83;2.77	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.33147	0.0853	L	0.38175	1.15	0.58432	D	0.999998	D;P;D	0.56035	0.974;0.956;0.974	D;D;D	0.70487	0.969;0.931;0.969	T	0.06338	-1.0832	10	0.66056	D	0.02	.	17.2391	0.87008	0.0:0.0:1.0:0.0	.	1891;1857;1878	P21675-4;P21675;P21675-2	.;TAF1_HUMAN;.	K	1857;1891;1880;1878	ENSP00000362895:E1857K;ENSP00000389000:E1891K;ENSP00000406549:E1880K;ENSP00000276072:E1878K	ENSP00000276072:E1878K	E	+	1	0	TAF1	70600571	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.007000	0.93597	2.252000	0.74401	0.287000	0.19450	GAG	TAF1	-	pirsf_TAF1_animal	ENSG00000147133		0.562	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	TAF1	HGNC	protein_coding	OTTHUMT00000058995.2	120	0.00	0	G	NM_004606		70683846	70683846	+1	no_errors	ENST00000449580	ensembl	human	known	69_37n	missense	95	24.60	31	SNP	1.000	A
TAF1A	9015	genome.wustl.edu	37	1	222757538	222757538	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:222757538C>G	ENST00000352967.4	-	3	411	c.223G>C	c.(223-225)Gaa>Caa	p.E75Q	TAF1A_ENST00000350027.4_Missense_Mutation_p.E75Q|TAF1A_ENST00000391882.1_Intron|TAF1A_ENST00000366890.1_Intron|TAF1A_ENST00000465263.1_5'UTR|TAF1A_ENST00000543857.1_Missense_Mutation_p.E75Q	NM_005681.3	NP_005672.1	Q15573	TAF1A_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa	75					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA binding (GO:0003677)			kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		TACATGTATTCTGCAGCTTGC	0.413																																						dbGAP											0													149.0	142.0	145.0					1																	222757538		2203	4300	6503	-	-	-	SO:0001583	missense	0			L39060	CCDS1531.1, CCDS1532.1	1q42	2008-02-05	2002-08-29		ENSG00000143498	ENSG00000143498			11532	protein-coding gene	gene with protein product		604903	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kD"""			7801123	Standard	NM_005681		Approved	TAFI48, SL1	uc009xdz.2	Q15573	OTTHUMG00000037544	ENST00000352967.4:c.223G>C	1.37:g.222757538C>G	ENSP00000327072:p.Glu75Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDZ8|D3DTB7|Q9NWA1	Missense_Mutation	SNP	pirsf_RNA_pol_I_TAF1A/TAFI48	p.E75Q	ENST00000352967.4	37	c.223	CCDS1531.1	1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.931525	0.73442	.	.	ENSG00000143498	ENST00000350027;ENST00000352967;ENST00000433270;ENST00000391883;ENST00000543857	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	5.81	5.81	0.92471	.	0.134157	0.64402	D	0.000002	T	0.68229	0.2978	M	0.77616	2.38	0.27660	N	0.947112	D;D	0.76494	0.999;0.979	D;P	0.64321	0.924;0.714	T	0.64820	-0.6317	10	0.52906	T	0.07	-19.4605	17.0006	0.86380	0.0:1.0:0.0:0.0	.	75;75	B4DS21;Q15573	.;TAF1A_HUMAN	Q	75	ENSP00000339976:E75Q;ENSP00000327072:E75Q;ENSP00000375755:E75Q;ENSP00000437725:E75Q	ENSP00000339976:E75Q	E	-	1	0	TAF1A	220824161	0.533000	0.26354	0.645000	0.29479	0.993000	0.82548	4.619000	0.61218	2.741000	0.93983	0.655000	0.94253	GAA	TAF1A	-	pirsf_RNA_pol_I_TAF1A/TAFI48	ENSG00000143498		0.413	TAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1A	HGNC	protein_coding	OTTHUMT00000091493.2	121	0.00	0	C	NM_005681		222757538	222757538	-1	no_errors	ENST00000350027	ensembl	human	known	69_37n	missense	141	16.07	27	SNP	0.675	G
TAF2	6873	genome.wustl.edu	37	8	120756621	120756621	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:120756621G>C	ENST00000378164.2	-	24	3419	c.3121C>G	c.(3121-3123)Caa>Gaa	p.Q1041E	TAF2_ENST00000519355.1_5'Flank	NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	1041					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TCCTCATCTTGAGAACTGGAA	0.378																																						dbGAP											0													128.0	127.0	127.0					8																	120756621		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"""	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.3121C>G	8.37:g.120756621G>C	ENSP00000367406:p.Gln1041Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Missense_Mutation	SNP	pfam_Peptidase_M1_N,superfamily_ARM-type_fold	p.Q1041E	ENST00000378164.2	37	c.3121	CCDS34937.1	8	.	.	.	.	.	.	.	.	.	.	G	18.73	3.685955	0.68157	.	.	ENSG00000064313	ENST00000378164;ENST00000529653	T;T	0.31247	2.52;1.5	5.49	5.49	0.81192	.	0.126650	0.64402	D	0.000019	T	0.21509	0.0518	L	0.27053	0.805	0.58432	D	0.999998	B	0.25007	0.116	B	0.16722	0.016	T	0.08126	-1.0737	10	0.05436	T	0.98	-20.4062	19.3879	0.94565	0.0:0.0:1.0:0.0	.	1041	Q6P1X5	TAF2_HUMAN	E	1041;217	ENSP00000367406:Q1041E;ENSP00000436750:Q217E	ENSP00000367406:Q1041E	Q	-	1	0	TAF2	120825802	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	7.092000	0.76930	2.592000	0.87571	0.467000	0.42956	CAA	TAF2	-	NULL	ENSG00000064313		0.378	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF2	HGNC	protein_coding	OTTHUMT00000381436.1	75	0.00	0	G	NM_003184		120756621	120756621	-1	no_errors	ENST00000378164	ensembl	human	known	69_37n	missense	90	21.74	25	SNP	1.000	C
TAF3	83860	genome.wustl.edu	37	10	7860723	7860723	+	Silent	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:7860723C>A	ENST00000344293.5	+	1	257	c.51C>A	c.(49-51)atC>atA	p.I17I		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	17					maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						TGGCGCAGATCTGCCAGGCGC	0.682																																						dbGAP											0													27.0	37.0	34.0					10																	7860723		2025	4180	6205	-	-	-	SO:0001819	synonymous_variant	0			AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"""Zinc fingers, PHD-type"""	17303	protein-coding gene	gene with protein product		606576	"""TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"""			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.51C>A	10.37:g.7860723C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Silent	SNP	pfam_BTP,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Histone-fold,smart_BTP,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.I17	ENST00000344293.5	37	c.51	CCDS41487.1	10																																																																																			TAF3	-	pfam_BTP,superfamily_Histone-fold,smart_BTP	ENSG00000165632		0.682	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF3	HGNC	protein_coding	OTTHUMT00000046725.1	37	0.00	0	C	NM_031923		7860723	7860723	+1	no_errors	ENST00000344293	ensembl	human	known	69_37n	silent	16	20.00	4	SNP	1.000	A
TAGAP	117289	genome.wustl.edu	37	6	159456960	159456960	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:159456960C>T	ENST00000367066.3	-	10	2426	c.2095G>A	c.(2095-2097)Gag>Aag	p.E699K	RP1-111C20.4_ENST00000606470.1_RNA|TAGAP_ENST00000326965.6_Missense_Mutation_p.E521K|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000606466.1_RNA	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	699					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TGCACGGACTCGGAGACGGTC	0.562																																						dbGAP											0													65.0	61.0	62.0					6																	159456960		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF385429	CCDS5261.1, CCDS5262.1, CCDS5263.1	6q25.3	2011-09-07	2008-03-25		ENSG00000164691	ENSG00000164691		"""Rho GTPase activating proteins"""	15669	protein-coding gene	gene with protein product		609667	"""T-cell activation GTPase activating protein"""			16375659, 18311140, 18356936	Standard	NM_152133		Approved	FLJ32631, IDDM21, ARHGAP47	uc003qrz.3	Q8N103	OTTHUMG00000015923	ENST00000367066.3:c.2095G>A	6.37:g.159456960C>T	ENSP00000356033:p.Glu699Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2NKM8|Q8NI40|Q96KZ2|Q96QA2	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.E699K	ENST00000367066.3	37	c.2095	CCDS5261.1	6	.	.	.	.	.	.	.	.	.	.	C	25.4	4.635598	0.87760	.	.	ENSG00000164691	ENST00000367066;ENST00000326965	T;T	0.38077	1.16;1.38	5.76	5.76	0.90799	.	0.067789	0.64402	D	0.000012	T	0.55593	0.1930	M	0.78801	2.425	0.80722	D	1	D	0.76494	0.999	D	0.63877	0.919	T	0.58989	-0.7538	10	0.72032	D	0.01	-35.628	19.5468	0.95300	0.0:1.0:0.0:0.0	.	699	Q8N103	TAGAP_HUMAN	K	699;521	ENSP00000356033:E699K;ENSP00000322650:E521K	ENSP00000322650:E521K	E	-	1	0	TAGAP	159376948	1.000000	0.71417	0.000000	0.03702	0.002000	0.02628	5.036000	0.64164	2.721000	0.93114	0.563000	0.77884	GAG	TAGAP	-	NULL	ENSG00000164691		0.562	TAGAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TAGAP	HGNC	protein_coding	OTTHUMT00000042890.1	39	0.00	0	C	NM_054114		159456960	159456960	-1	no_errors	ENST00000367066	ensembl	human	known	69_37n	missense	43	27.12	16	SNP	0.073	T
TAGAP	117289	genome.wustl.edu	37	6	159457800	159457800	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:159457800C>T	ENST00000367066.3	-	10	1586	c.1255G>A	c.(1255-1257)Gaa>Aaa	p.E419K	RP1-111C20.4_ENST00000606470.1_RNA|TAGAP_ENST00000326965.6_Missense_Mutation_p.E241K|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000606466.1_RNA	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	419					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		AATGGGTCTTCAGCCTCCTCA	0.582																																						dbGAP											0													65.0	67.0	66.0					6																	159457800		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF385429	CCDS5261.1, CCDS5262.1, CCDS5263.1	6q25.3	2011-09-07	2008-03-25		ENSG00000164691	ENSG00000164691		"""Rho GTPase activating proteins"""	15669	protein-coding gene	gene with protein product		609667	"""T-cell activation GTPase activating protein"""			16375659, 18311140, 18356936	Standard	NM_152133		Approved	FLJ32631, IDDM21, ARHGAP47	uc003qrz.3	Q8N103	OTTHUMG00000015923	ENST00000367066.3:c.1255G>A	6.37:g.159457800C>T	ENSP00000356033:p.Glu419Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2NKM8|Q8NI40|Q96KZ2|Q96QA2	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.E419K	ENST00000367066.3	37	c.1255	CCDS5261.1	6	.	.	.	.	.	.	.	.	.	.	C	16.60	3.169693	0.57584	.	.	ENSG00000164691	ENST00000367066;ENST00000326965;ENST00000539071	T;T	0.18174	2.23;2.51	6.05	5.01	0.66863	.	0.488045	0.22007	N	0.065924	T	0.06645	0.0170	L	0.39514	1.22	0.80722	D	1	B	0.29909	0.261	B	0.22880	0.042	T	0.12811	-1.0533	10	0.14252	T	0.57	-26.169	15.9343	0.79691	0.0:0.9243:0.0:0.0757	.	419	Q8N103	TAGAP_HUMAN	K	419;241;84	ENSP00000356033:E419K;ENSP00000322650:E241K	ENSP00000322650:E241K	E	-	1	0	TAGAP	159377788	1.000000	0.71417	0.000000	0.03702	0.065000	0.16274	4.461000	0.60115	2.878000	0.98634	0.650000	0.86243	GAA	TAGAP	-	NULL	ENSG00000164691		0.582	TAGAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TAGAP	HGNC	protein_coding	OTTHUMT00000042890.1	35	0.00	0	C	NM_054114		159457800	159457800	-1	no_errors	ENST00000367066	ensembl	human	known	69_37n	missense	32	21.95	9	SNP	0.000	T
TANC1	85461	genome.wustl.edu	37	2	160035382	160035382	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:160035382C>T	ENST00000263635.6	+	14	2455	c.2218C>T	c.(2218-2220)Cag>Tag	p.Q740*	TANC1_ENST00000454300.1_Nonsense_Mutation_p.Q634*	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	740					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CTATTTGCTTCAGTGCAACAT	0.552																																						dbGAP											0													158.0	160.0	160.0					2																	160035382		2036	4182	6218	-	-	-	SO:0001587	stop_gained	0			AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.2218C>T	2.37:g.160035382C>T	ENSP00000263635:p.Gln740*	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JD88|Q49AI8	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.Q740*	ENST00000263635.6	37	c.2218	CCDS42766.1	2	.	.	.	.	.	.	.	.	.	.	C	42	9.229697	0.99108	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	19.7557	0.96287	0.0:1.0:0.0:0.0	.	.	.	.	X	634;740	.	ENSP00000263635:Q740X	Q	+	1	0	TANC1	159743628	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.063000	0.71162	2.693000	0.91896	0.651000	0.88453	CAG	TANC1	-	NULL	ENSG00000115183		0.552	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TANC1	HGNC	protein_coding	OTTHUMT00000333135.1	28	0.00	0	C			160035382	160035382	+1	no_errors	ENST00000263635	ensembl	human	known	69_37n	nonsense	41	24.07	13	SNP	1.000	T
TAOK2	9344	genome.wustl.edu	37	16	29990153	29990153	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:29990153G>T	ENST00000308893.4	+	5	1383	c.340G>T	c.(340-342)Gac>Tac	p.D114Y	TAOK2_ENST00000416441.2_5'Flank|TAOK2_ENST00000279394.3_Missense_Mutation_p.D114Y|TAOK2_ENST00000543033.1_Missense_Mutation_p.D114Y	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	114	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CTCAGCTTCTGACCTTCTAGA	0.507																																						dbGAP											0													85.0	79.0	81.0					16																	29990153		2197	4300	6497	-	-	-	SO:0001583	missense	0			AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.340G>T	16.37:g.29990153G>T	ENSP00000310094:p.Asp114Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	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.D114Y	ENST00000308893.4	37	c.340	CCDS10663.1	16	.	.	.	.	.	.	.	.	.	.	G	20.3	3.959918	0.74016	.	.	ENSG00000149930	ENST00000416441;ENST00000308893;ENST00000543033;ENST00000279394	T;T;T	0.28895	1.59;1.59;1.59	5.6	5.6	0.85130	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.054126	0.64402	D	0.000001	T	0.59932	0.2230	M	0.80746	2.51	0.80722	D	1	D;D;D;D	0.89917	1.0;0.992;0.996;0.999	D;D;D;D	0.83275	0.996;0.965;0.986;0.994	T	0.60870	-0.7177	9	.	.	.	.	18.3838	0.90459	0.0:0.0:1.0:0.0	.	298;114;114;114	Q86V37;Q9UL54-2;A0PJ48;Q9UL54	.;.;.;TAOK2_HUMAN	Y	114	ENSP00000310094:D114Y;ENSP00000440336:D114Y;ENSP00000279394:D114Y	.	D	+	1	0	TAOK2	29897654	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	9.869000	0.99810	2.638000	0.89438	0.313000	0.20887	GAC	TAOK2	-	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	ENSG00000149930		0.507	TAOK2-002	KNOWN	basic|CCDS	protein_coding	TAOK2	HGNC	protein_coding	OTTHUMT00000255152.2	82	0.00	0	G	NM_016151		29990153	29990153	+1	no_errors	ENST00000308893	ensembl	human	known	69_37n	missense	46	11.54	6	SNP	1.000	T
TAPT1	202018	genome.wustl.edu	37	4	16177804	16177804	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:16177804C>G	ENST00000405303.2	-	9	1128	c.1045G>C	c.(1045-1047)Gaa>Caa	p.E349Q	TAPT1_ENST00000399920.3_Missense_Mutation_p.E238Q|TAPT1_ENST00000304584.8_Missense_Mutation_p.E130Q|RP11-452J21.2_ENST00000513586.1_RNA	NM_153365.2	NP_699196.2	Q6NXT6	TAPT1_HUMAN	transmembrane anterior posterior transformation 1	349					embryonic skeletal system development (GO:0048706)|G-protein coupled receptor signaling pathway (GO:0007186)|in utero embryonic development (GO:0001701)|post-embryonic development (GO:0009791)	integral component of membrane (GO:0016021)	growth hormone-releasing hormone receptor activity (GO:0016520)			NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	10						ACGGCAATTTCTGATGCAATT	0.303																																						dbGAP											0													67.0	63.0	64.0					4																	16177804		1837	4089	5926	-	-	-	SO:0001583	missense	0			AK074494	CCDS47030.1	4p15.32	2014-01-28			ENSG00000169762	ENSG00000169762			26887	protein-coding gene	gene with protein product		612758				12477932	Standard	NM_153365		Approved	FLJ90013	uc010ied.1	Q6NXT6	OTTHUMG00000160177	ENST00000405303.2:c.1045G>C	4.37:g.16177804C>G	ENSP00000385347:p.Glu349Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N2S3|Q9NZK9	Missense_Mutation	SNP	pfam_Membrane_Tatp1/CMV_rcpt	p.E349Q	ENST00000405303.2	37	c.1045	CCDS47030.1	4	.	.	.	.	.	.	.	.	.	.	C	25.8	4.679474	0.88542	.	.	ENSG00000169762	ENST00000405303;ENST00000542770;ENST00000399920;ENST00000304584	T;T	0.64618	-0.11;0.07	5.81	4.95	0.65309	.	0.000000	0.85682	D	0.000000	D	0.83294	0.5223	M	0.91717	3.235	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.87335	0.2327	10	0.66056	D	0.02	-8.4104	16.0437	0.80704	0.1354:0.8646:0.0:0.0	.	349	Q6NXT6	TAPT1_HUMAN	Q	349;349;238;130	ENSP00000385347:E349Q;ENSP00000382803:E238Q	ENSP00000305198:E130Q	E	-	1	0	TAPT1	15786902	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.458000	0.80787	1.408000	0.46895	0.655000	0.94253	GAA	TAPT1	-	pfam_Membrane_Tatp1/CMV_rcpt	ENSG00000169762		0.303	TAPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAPT1	HGNC	protein_coding	OTTHUMT00000359568.1	105	0.00	0	C	NM_153365		16177804	16177804	-1	no_errors	ENST00000405303	ensembl	human	known	69_37n	missense	69	23.33	21	SNP	1.000	G
TAPT1	202018	genome.wustl.edu	37	4	16188198	16188198	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:16188198C>T	ENST00000405303.2	-	7	959	c.876G>A	c.(874-876)aaG>aaA	p.K292K	TAPT1_ENST00000399920.3_Silent_p.K181K|TAPT1_ENST00000508888.1_5'Flank|TAPT1_ENST00000304584.8_Silent_p.K73K	NM_153365.2	NP_699196.2	Q6NXT6	TAPT1_HUMAN	transmembrane anterior posterior transformation 1	292					embryonic skeletal system development (GO:0048706)|G-protein coupled receptor signaling pathway (GO:0007186)|in utero embryonic development (GO:0001701)|post-embryonic development (GO:0009791)	integral component of membrane (GO:0016021)	growth hormone-releasing hormone receptor activity (GO:0016520)			NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	10						TTTCAAACTTCTTGAAAACAC	0.284																																						dbGAP											0													68.0	63.0	65.0					4																	16188198		1773	3973	5746	-	-	-	SO:0001819	synonymous_variant	0			AK074494	CCDS47030.1	4p15.32	2014-01-28			ENSG00000169762	ENSG00000169762			26887	protein-coding gene	gene with protein product		612758				12477932	Standard	NM_153365		Approved	FLJ90013	uc010ied.1	Q6NXT6	OTTHUMG00000160177	ENST00000405303.2:c.876G>A	4.37:g.16188198C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N2S3|Q9NZK9	Missense_Mutation	SNP	pfam_Membrane_Tatp1/CMV_rcpt	p.E85K	ENST00000405303.2	37	c.253	CCDS47030.1	4																																																																																			TAPT1	-	pfam_Membrane_Tatp1/CMV_rcpt	ENSG00000169762		0.284	TAPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAPT1	HGNC	protein_coding	OTTHUMT00000359568.1	105	0.00	0	C	NM_153365		16188198	16188198	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000513782	ensembl	human	known	69_37n	missense	77	18.09	17	SNP	1.000	T
TARS	6897	genome.wustl.edu	37	5	33467012	33467012	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:33467012G>A	ENST00000265112.3	+	18	2256	c.1945G>A	c.(1945-1947)Gac>Aac	p.D649N	TARS_ENST00000414361.2_Missense_Mutation_p.D528N|TARS_ENST00000502553.1_Missense_Mutation_p.D649N|TARS_ENST00000455217.2_Missense_Mutation_p.D682N|TARS_ENST00000541634.1_Missense_Mutation_p.D545N	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	649					gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829)			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	ATTCATGGCAGACATTGATCT	0.343																																						dbGAP											0													91.0	86.0	88.0					5																	33467012		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	11572	protein-coding gene	gene with protein product	"""threonine tRNA ligase 1, cytoplasmic"""	187790					Standard	NM_152295		Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000265112.3:c.1945G>A	5.37:g.33467012G>A	ENSP00000265112:p.Asp649Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8I1|B4DEG8|Q96FP5|Q9BWA6	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,prints_Thr-tRNA-synth_IIa,pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-synth_IIa	p.D649N	ENST00000265112.3	37	c.1945	CCDS3899.1	5	.	.	.	.	.	.	.	.	.	.	g	33	5.241392	0.95272	.	.	ENSG00000113407	ENST00000502553;ENST00000265112;ENST00000541634;ENST00000455217;ENST00000414361	D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75	5.43	5.43	0.79202	Anticodon-binding (3);	0.000000	0.85682	D	0.000000	D	0.91811	0.7409	M	0.82823	2.61	0.80722	D	1	D;P;D;D	0.67145	0.985;0.91;0.99;0.996	P;P;D;D	0.70016	0.852;0.838;0.945;0.967	D	0.92507	0.6013	10	0.66056	D	0.02	-32.2579	19.2361	0.93861	0.0:0.0:1.0:0.0	.	528;682;545;649	E7ERI3;B4DEG8;G3XAN9;P26639	.;.;.;SYTC_HUMAN	N	649;649;545;682;528	ENSP00000424387:D649N;ENSP00000265112:D649N;ENSP00000438469:D545N;ENSP00000387710:D682N;ENSP00000394291:D528N	ENSP00000265112:D649N	D	+	1	0	TARS	33502769	1.000000	0.71417	0.603000	0.28903	0.951000	0.60555	8.004000	0.88535	2.528000	0.85240	0.655000	0.94253	GAC	TARS	-	pfam_Anticodon-bd,superfamily_Anticodon-bd,tigrfam_Thr-tRNA-synth_IIa	ENSG00000113407		0.343	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARS	HGNC	protein_coding	OTTHUMT00000207367.1	54	0.00	0	G	NM_152295		33467012	33467012	+1	no_errors	ENST00000265112	ensembl	human	known	69_37n	missense	47	18.97	11	SNP	0.995	A
TARSL2	123283	genome.wustl.edu	37	15	102194799	102194799	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:102194799C>T	ENST00000335968.3	-	19	2611	c.2395G>A	c.(2395-2397)Gag>Aag	p.E799K	TM2D3_ENST00000347970.3_5'Flank|TARSL2_ENST00000559492.1_5'UTR|TM2D3_ENST00000428002.2_5'Flank|TM2D3_ENST00000333202.3_5'Flank|TM2D3_ENST00000559107.1_5'Flank	NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	799					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)			AAGGCCTCCTCAGCATTGAGT	0.373																																						dbGAP											0													104.0	100.0	102.0					15																	102194799		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.2395G>A	15.37:g.102194799C>T	ENSP00000338093:p.Glu799Lys	Somatic		WXS	Illumina GAIIx	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,prints_Thr-tRNA-synth_IIa,pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-synth_IIa	p.E799K	ENST00000335968.3	37	c.2395	CCDS10394.1	15	.	.	.	.	.	.	.	.	.	.	C	25.2	4.610568	0.87258	.	.	ENSG00000185418	ENST00000335968;ENST00000333018	.	.	.	5.65	5.65	0.86999	Anticodon-binding (1);	0.000000	0.85682	D	0.000000	T	0.76169	0.3950	M	0.62154	1.92	0.80722	D	1	D	0.71674	0.998	D	0.64687	0.928	T	0.77945	-0.2397	9	0.87932	D	0	-33.063	17.2044	0.86914	0.0:1.0:0.0:0.0	.	799	A2RTX5	SYTC2_HUMAN	K	799;704	.	ENSP00000329291:E704K	E	-	1	0	TARSL2	100012322	1.000000	0.71417	0.999000	0.59377	0.479000	0.33129	7.290000	0.78711	2.676000	0.91093	0.591000	0.81541	GAG	TARSL2	-	superfamily_Anticodon-bd	ENSG00000185418		0.373	TARSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARSL2	HGNC	protein_coding	OTTHUMT00000313619.3	142	0.00	0	C	NM_152334		102194799	102194799	-1	no_errors	ENST00000335968	ensembl	human	known	69_37n	missense	95	22.76	28	SNP	1.000	T
TARSL2	123283	genome.wustl.edu	37	15	102211921	102211921	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:102211921C>T	ENST00000335968.3	-	14	2035	c.1819G>A	c.(1819-1821)Gaa>Aaa	p.E607K		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	607					threonyl-tRNA aminoacylation (GO:0006435)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)	p.E607K(1)		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)			TTCCACGGTTCTCCAAAGTCC	0.348																																						dbGAP											1	Substitution - Missense(1)	urinary_tract(1)											70.0	68.0	69.0					15																	102211921		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.1819G>A	15.37:g.102211921C>T	ENSP00000338093:p.Glu607Lys	Somatic		WXS	Illumina GAIIx	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,prints_Thr-tRNA-synth_IIa,pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-synth_IIa	p.E607K	ENST00000335968.3	37	c.1819	CCDS10394.1	15	.	.	.	.	.	.	.	.	.	.	C	8.122	0.781140	0.16120	.	.	ENSG00000185418	ENST00000335968;ENST00000333018;ENST00000539112	.	.	.	5.11	0.151	0.14888	Aminoacyl-tRNA synthetase, class II (1);	0.287432	0.38058	N	0.001831	T	0.17831	0.0428	N	0.05078	-0.115	0.31845	N	0.622959	B;B	0.06786	0.0;0.001	B;B	0.08055	0.001;0.003	T	0.14587	-1.0467	9	0.24483	T	0.36	-12.1777	8.3439	0.32261	0.0:0.5226:0.0:0.4774	.	607;512	A2RTX5;A2RTX5-2	SYTC2_HUMAN;.	K	607;512;607	.	ENSP00000329291:E512K	E	-	1	0	TARSL2	100029444	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.977000	0.49297	0.274000	0.22072	0.585000	0.79938	GAA	TARSL2	-	pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-synth_IIa	ENSG00000185418		0.348	TARSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARSL2	HGNC	protein_coding	OTTHUMT00000313619.3	163	0.00	0	C	NM_152334		102211921	102211921	-1	no_errors	ENST00000335968	ensembl	human	known	69_37n	missense	80	48.05	74	SNP	1.000	T
TARSL2	123283	genome.wustl.edu	37	15	102261472	102261472	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:102261472C>T	ENST00000335968.3	-	3	639	c.423G>A	c.(421-423)ctG>ctA	p.L141L		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	141					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)			GGTCTTTCTTCAGTATTTCAA	0.368																																						dbGAP											0													137.0	125.0	129.0					15																	102261472		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			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.423G>A	15.37:g.102261472C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RMP7|Q6B0A1|Q6IS76|Q96LW3|Q96MP4	Silent	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,prints_Thr-tRNA-synth_IIa,pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-synth_IIa	p.L141	ENST00000335968.3	37	c.423	CCDS10394.1	15																																																																																			TARSL2	-	NULL	ENSG00000185418		0.368	TARSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARSL2	HGNC	protein_coding	OTTHUMT00000313619.3	146	0.00	0	C	NM_152334		102261472	102261472	-1	no_errors	ENST00000335968	ensembl	human	known	69_37n	silent	78	49.35	76	SNP	1.000	T
TAS1R3	83756	genome.wustl.edu	37	1	1267309	1267309	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:1267309C>T	ENST00000339381.5	+	2	515	c.483C>T	c.(481-483)ctC>ctT	p.L161L		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	161					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	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;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)		GCTTCTTCCTCATGCCCCAGG	0.657																																						dbGAP											0													34.0	39.0	37.0					1																	1267309		2196	4289	6485	-	-	-	SO:0001819	synonymous_variant	0			AC026283	CCDS30556.1	1p36	2012-08-22			ENSG00000169962	ENSG00000169962		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	15661	protein-coding gene	gene with protein product		605865				11319557	Standard	XM_006710939		Approved	T1R3	uc010nyk.2	Q7RTX0	OTTHUMG00000003071	ENST00000339381.5:c.483C>T	1.37:g.1267309C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TA49|Q8NGW9	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3	p.L161	ENST00000339381.5	37	c.483	CCDS30556.1	1																																																																																			TAS1R3	-	pfam_ANF_lig-bd_rcpt,prints_GPCR_3	ENSG00000169962		0.657	TAS1R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS1R3	HGNC	protein_coding	OTTHUMT00000008493.1	8	0.00	0	C			1267309	1267309	+1	no_errors	ENST00000339381	ensembl	human	known	69_37n	silent	9	43.75	7	SNP	0.998	T
TAS1R2	80834	genome.wustl.edu	37	1	19180959	19180959	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:19180959G>T	ENST00000375371.3	-	3	1026	c.1005C>A	c.(1003-1005)ttC>ttA	p.F335L	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	335					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GGAACTCACTGAAGCCCGGGA	0.657																																						dbGAP											0													63.0	64.0	63.0					1																	19180959		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14905	protein-coding gene	gene with protein product		606226	"""G protein-coupled receptor 71"""	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.1005C>A	1.37:g.19180959G>T	ENSP00000364520:p.Phe335Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TZ19	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3	p.F335L	ENST00000375371.3	37	c.1005	CCDS187.1	1	.	.	.	.	.	.	.	.	.	.	G	8.332	0.826751	0.16749	.	.	ENSG00000179002	ENST00000375371	D	0.84146	-1.81	4.8	4.8	0.61643	Extracellular ligand-binding receptor (1);	0.000000	0.47093	D	0.000243	T	0.79305	0.4423	L	0.39326	1.205	0.43168	D	0.994963	P	0.36199	0.543	B	0.38985	0.287	T	0.75357	-0.3346	10	0.07813	T	0.8	.	15.3974	0.74808	0.0:0.0:1.0:0.0	.	335	Q8TE23	TS1R2_HUMAN	L	335	ENSP00000364520:F335L	ENSP00000364520:F335L	F	-	3	2	TAS1R2	19053546	0.963000	0.33076	1.000000	0.80357	0.522000	0.34438	1.259000	0.32956	2.507000	0.84556	0.561000	0.74099	TTC	TAS1R2	-	pfam_ANF_lig-bd_rcpt	ENSG00000179002		0.657	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	TAS1R2	HGNC	protein_coding	OTTHUMT00000006953.1	55	0.00	0	G			19180959	19180959	-1	no_errors	ENST00000375371	ensembl	human	novel	69_37n	missense	40	20.00	10	SNP	0.998	T
TAS2R5	54429	genome.wustl.edu	37	7	141490369	141490369	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:141490369C>T	ENST00000247883.4	+	1	353	c.208C>T	c.(208-210)Cca>Tca	p.P70S		NM_018980.2	NP_061853.1	Q9NYW4	TA2R5_HUMAN	taste receptor, type 2, member 5	70					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9	Melanoma(164;0.0171)					AAGCTTGTTTCCACTTTTCCA	0.488																																						dbGAP											0													110.0	102.0	104.0					7																	141490369		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF227132	CCDS5869.1	7q31.3-q32	2012-08-22			ENSG00000127366	ENSG00000127366		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14912	protein-coding gene	gene with protein product		605062					Standard	NM_018980		Approved	T2R5	uc003vwr.1	Q9NYW4	OTTHUMG00000157632	ENST00000247883.4:c.208C>T	7.37:g.141490369C>T	ENSP00000247883:p.Pro70Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q645W0|Q75MV7	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.P70S	ENST00000247883.4	37	c.208	CCDS5869.1	7	.	.	.	.	.	.	.	.	.	.	C	0.758	-0.770360	0.02974	.	.	ENSG00000127366	ENST00000247883	T	0.00686	5.85	4.46	-1.18	0.09617	.	.	.	.	.	T	0.00524	0.0017	N	0.05441	-0.05	0.09310	N	1	B	0.14012	0.009	B	0.20384	0.029	T	0.44817	-0.9303	9	0.48119	T	0.1	.	4.0393	0.09743	0.0:0.3348:0.3436:0.3215	.	70	Q9NYW4	TA2R5_HUMAN	S	70	ENSP00000247883:P70S	ENSP00000247883:P70S	P	+	1	0	TAS2R5	141136838	0.000000	0.05858	0.001000	0.08648	0.032000	0.12392	-0.457000	0.06745	-0.098000	0.12285	-0.291000	0.09656	CCA	TAS2R5	-	pfam_TAS2_rcpt	ENSG00000127366		0.488	TAS2R5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R5	HGNC	protein_coding	OTTHUMT00000349283.1	141	0.00	0	C			141490369	141490369	+1	no_errors	ENST00000247883	ensembl	human	known	69_37n	missense	105	31.37	48	SNP	0.000	T
TASP1	55617	genome.wustl.edu	37	20	13398117	13398117	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:13398117G>C	ENST00000337743.4	-	13	1268	c.1148C>G	c.(1147-1149)tCa>tGa	p.S383*	TASP1_ENST00000539805.1_3'UTR|TASP1_ENST00000480436.1_5'UTR	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN	taspase, threonine aspartase, 1	383					positive regulation of transcription, DNA-templated (GO:0045893)		threonine-type endopeptidase activity (GO:0004298)			NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						ATCCTGGGCTGACATATATCC	0.453																																						dbGAP											0													190.0	142.0	158.0					20																	13398117		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK000219	CCDS13116.1	20p12	2005-10-15	2005-10-15	2005-10-15	ENSG00000089123	ENSG00000089123	3.4.25.-		15859	protein-coding gene	gene with protein product		608270	"""chromosome 20 open reading frame 13"""	C20orf13		14636557	Standard	XR_430268		Approved	FLJ20212, dJ585I14.2	uc002woi.3	Q9H6P5	OTTHUMG00000031904	ENST00000337743.4:c.1148C>G	20.37:g.13398117G>C	ENSP00000338624:p.Ser383*	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z690|B7Z963|Q5TDU9|Q9BQN0|Q9NQ08|Q9NTS6|Q9NXJ2	Nonsense_Mutation	SNP	pfam_Peptidase_T2	p.S383*	ENST00000337743.4	37	c.1148	CCDS13116.1	20	.	.	.	.	.	.	.	.	.	.	G	38	6.696744	0.97772	.	.	ENSG00000089123	ENST00000337743	.	.	.	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-7.6111	19.1906	0.93664	0.0:0.0:1.0:0.0	.	.	.	.	X	383	.	ENSP00000338624:S383X	S	-	2	0	TASP1	13346117	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.834000	0.92094	2.609000	0.88269	0.655000	0.94253	TCA	TASP1	-	NULL	ENSG00000089123		0.453	TASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TASP1	HGNC	protein_coding	OTTHUMT00000078041.2	192	0.00	0	G	NM_017714		13398117	13398117	-1	no_errors	ENST00000337743	ensembl	human	known	69_37n	nonsense	231	14.44	39	SNP	1.000	C
TBATA	219793	genome.wustl.edu	37	10	72531140	72531140	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:72531140C>T	ENST00000299290.1	-	11	1437	c.1048G>A	c.(1048-1050)Gag>Aag	p.E350K	TBATA_ENST00000394982.2_5'UTR	NM_152710.2	NP_689923	Q96M53	TBATA_HUMAN	thymus, brain and testes associated	350					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|nucleus (GO:0005634)											CCTCAGCTCTCTGCCCTCGGC	0.547																																						dbGAP											0													184.0	172.0	176.0					10																	72531140		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK057382	CCDS7308.1	10q22.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166220	ENSG00000166220			23511	protein-coding gene	gene with protein product		612640	"""chromosome 10 open reading frame 27"""	C10orf27		20937703	Standard	NM_152710		Approved	FLJ32820, spatial	uc001jrj.1	Q96M53	OTTHUMG00000018413	ENST00000299290.1:c.1048G>A	10.37:g.72531140C>T	ENSP00000299290:p.Glu350Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A4QPA8|B2RPQ2|Q5T4G2	Missense_Mutation	SNP	NULL	p.E350K	ENST00000299290.1	37	c.1048	CCDS7308.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	13.19|13.19	2.163261|2.163261	0.38217|0.38217	.|.	.|.	ENSG00000166220|ENSG00000166220	ENST00000299290|ENST00000394982	T|.	0.52526|.	0.66|.	3.89|3.89	0.917|0.917	0.19380|0.19380	.|.	.|.	.|.	.|.	.|.	T|T	0.14874|0.14874	0.0359|0.0359	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	P;B;B|.	0.48162|.	0.906;0.035;0.035|.	B;B;B|.	0.43386|.	0.418;0.031;0.031|.	T|T	0.25152|0.25152	-1.0140|-1.0140	9|5	0.62326|.	D|.	0.03|.	-1.7797|-1.7797	3.4912|3.4912	0.07638|0.07638	0.1982:0.5806:0.0:0.2212|0.1982:0.5806:0.0:0.2212	.|.	349;351;350|.	B7ZMN4;B7ZMN5;Q96M53|.	.;.;SPATL_HUMAN|.	K|K	350|70	ENSP00000299290:E350K|.	ENSP00000299290:E350K|.	E|R	-|-	1|2	0|0	C10orf27|C10orf27	72201146|72201146	0.622000|0.622000	0.27085|0.27085	0.004000|0.004000	0.12327|0.12327	0.010000|0.010000	0.07245|0.07245	1.685000|1.685000	0.37659|0.37659	0.084000|0.084000	0.17077|0.17077	-0.260000|-0.260000	0.10688|0.10688	GAG|AGA	TBATA	-	NULL	ENSG00000166220		0.547	TBATA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBATA	HGNC	protein_coding	OTTHUMT00000048519.1	129	0.00	0	C	NM_152710		72531140	72531140	-1	no_errors	ENST00000299290	ensembl	human	known	69_37n	missense	57	33.72	29	SNP	0.001	T
TBC1D23	55773	genome.wustl.edu	37	3	100002473	100002473	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:100002473G>A	ENST00000394144.4	+	4	301	c.294G>A	c.(292-294)gaG>gaA	p.E98E	TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000344949.5_Silent_p.E98E|TBC1D23_ENST00000475134.1_Intron	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	98	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				positive regulation of interleukin-6 production (GO:0032755)|regulation of inflammatory response (GO:0050727)|regulation of tumor necrosis factor production (GO:0032680)		Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						TGCCAGAGGAGAAGGCAGCAG	0.353																																						dbGAP											0													89.0	87.0	87.0					3																	100002473		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK001908	CCDS2936.1, CCDS56265.1	3q12.2	2013-07-10			ENSG00000036054	ENSG00000036054			25622	protein-coding gene	gene with protein product						22312129	Standard	NM_001199198		Approved	FLJ11046	uc003dtt.4	Q9NUY8	OTTHUMG00000159067	ENST00000394144.4:c.294G>A	3.37:g.100002473G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B9A6M5|Q8TCN8|Q8WUB7|Q96D90|Q9NV75	Silent	SNP	pfam_Rab-GTPase-TBC_dom,pfam_Rhodanese-like_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Rhodanese-like_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Rhodanese-like_dom	p.E98	ENST00000394144.4	37	c.294	CCDS56265.1	3																																																																																			TBC1D23	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000036054		0.353	TBC1D23-002	KNOWN	basic|CCDS	protein_coding	TBC1D23	HGNC	protein_coding	OTTHUMT00000353150.1	124	0.00	0	G	NM_018309		100002473	100002473	+1	no_errors	ENST00000394144	ensembl	human	known	69_37n	silent	113	18.12	25	SNP	0.827	A
TBC1D25	4943	genome.wustl.edu	37	X	48418497	48418497	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:48418497G>C	ENST00000376771.4	+	6	1542	c.1201G>C	c.(1201-1203)Gat>Cat	p.D401H	snoU13_ENST00000459609.1_RNA|TBC1D25_ENST00000537536.1_Missense_Mutation_p.D147H	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	401	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				autophagy (GO:0006914)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of autophagic vacuole maturation (GO:1901096)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						GGCAGGCGCTGATGACCTCTT	0.572																																						dbGAP											0													34.0	23.0	27.0					X																	48418497		2203	4299	6502	-	-	-	SO:0001583	missense	0			L08240	CCDS35242.1	Xp11.23	2014-01-28	2007-01-12	2007-01-12	ENSG00000068354	ENSG00000068354			8092	protein-coding gene	gene with protein product		311240	"""ornithine aminotransferase-like 1"""	OATL1		21383079	Standard	NM_002536		Approved		uc004dka.1	Q3MII6	OTTHUMG00000024123	ENST00000376771.4:c.1201G>C	X.37:g.48418497G>C	ENSP00000365962:p.Asp401His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q08AN9|Q3MII4|Q8TAR9	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.D401H	ENST00000376771.4	37	c.1201	CCDS35242.1	X	.	.	.	.	.	.	.	.	.	.	G	13.83	2.353924	0.41700	.	.	ENSG00000068354	ENST00000376771;ENST00000537536	T;T	0.13420	2.59;2.59	5.49	5.49	0.81192	Rab-GAP/TBC domain (4);	0.054271	0.64402	D	0.000001	T	0.20577	0.0495	M	0.69358	2.11	0.58432	D	0.999999	B;B;B	0.28998	0.23;0.095;0.025	B;B;B	0.31245	0.126;0.086;0.076	T	0.01739	-1.1284	10	0.72032	D	0.01	-13.4433	15.752	0.77992	0.0:0.0:1.0:0.0	.	405;343;401	B4DF03;B4DGU3;Q3MII6	.;.;TBC25_HUMAN	H	401;147	ENSP00000365962:D401H;ENSP00000444091:D147H	ENSP00000365962:D401H	D	+	1	0	TBC1D25	48303441	1.000000	0.71417	0.571000	0.28486	0.821000	0.46438	7.149000	0.77396	2.317000	0.78254	0.431000	0.28591	GAT	TBC1D25	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000068354		0.572	TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D25	HGNC	protein_coding	OTTHUMT00000060764.2	19	0.00	0	G	NM_002536		48418497	48418497	+1	no_errors	ENST00000376771	ensembl	human	known	69_37n	missense	24	25.00	8	SNP	0.997	C
TBC1D26	353149	genome.wustl.edu	37	17	15642040	15642040	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:15642040G>A	ENST00000437605.2	+	8	643	c.393G>A	c.(391-393)atG>atA	p.M131I	AC005324.6_ENST00000433873.1_RNA|ZNF286A_ENST00000413242.2_3'UTR|AC005324.6_ENST00000580194.1_RNA|AC005324.6_ENST00000434017.1_RNA|TBC1D26_ENST00000579428.1_Missense_Mutation_p.M131I	NM_178571.4	NP_848666	Q86UD7	TBC26_HUMAN	TBC1 domain family, member 26	131	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078)		TACAGGTCATGAAGGAGAAGG	0.527																																						dbGAP											0													144.0	133.0	137.0					17																	15642040		2202	4297	6499	-	-	-	SO:0001583	missense	0				CCDS42265.1	17p11.2	2008-11-04			ENSG00000214946	ENSG00000214946			28745	protein-coding gene	gene with protein product						11347906	Standard	NM_178571		Approved	MGC51025	uc010cov.3	Q86UD7	OTTHUMG00000059071	ENST00000437605.2:c.393G>A	17.37:g.15642040G>A	ENSP00000410111:p.Met131Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K929|Q4G172	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.M131I	ENST00000437605.2	37	c.393	CCDS42265.1	17	.	.	.	.	.	.	.	.	.	.	g	13.58	2.280817	0.40394	.	.	ENSG00000214946	ENST00000437605	T	0.30981	1.51	1.44	1.44	0.22558	Rab-GAP/TBC domain (4);	0.097700	0.64402	N	0.000002	T	0.41119	0.1145	L	0.48642	1.525	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.984	T	0.24476	-1.0159	10	0.72032	D;D	0.01;0.01	.	6.1858	0.20495	0.0:0.0:1.0:0.0	.	131;131	Q86UD7;Q86UD7-2	TBC26_HUMAN;.	I	131	ENSP00000410111:M131I	ENSP00000410111:M131I;ENSP00000410111:M131I	M	+	3	0	TBC1D26	15582765	1.000000	0.71417	0.194000	0.23346	0.082000	0.17680	3.530000	0.53539	0.758000	0.33059	0.411000	0.27672	ATG	TBC1D26	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000214946		0.527	TBC1D26-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D26	HGNC	protein_coding		200	0.50	1	G	NM_178571		15642040	15642040	+1	no_errors	ENST00000437605	ensembl	human	known	69_37n	missense	188	15.32	34	SNP	1.000	A
TBC1D5	9779	genome.wustl.edu	37	3	17202620	17202620	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:17202620G>A	ENST00000253692.7	-	22	3887	c.2223C>T	c.(2221-2223)ctC>ctT	p.L741L	TBC1D5_ENST00000429383.4_Silent_p.L741L|TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000446818.2_Silent_p.L763L	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	741						retromer complex (GO:0030904)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						AGGTGCTTCTGAGGGTGCGAA	0.587																																						dbGAP											0													48.0	53.0	51.0					3																	17202620		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D86965	CCDS33714.1, CCDS46770.1	3p24.3	2013-07-09			ENSG00000131374	ENSG00000131374			19166	protein-coding gene	gene with protein product		615740				19531583	Standard	NM_014744		Approved	KIAA0210	uc003cbe.3	Q92609	OTTHUMG00000155488	ENST00000253692.7:c.2223C>T	3.37:g.17202620G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NP25|C9JP52	Silent	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.L741	ENST00000253692.7	37	c.2223	CCDS33714.1	3																																																																																			TBC1D5	-	NULL	ENSG00000131374		0.587	TBC1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D5	HGNC	protein_coding	OTTHUMT00000340301.3	68	0.00	0	G	NM_014744		17202620	17202620	-1	no_errors	ENST00000253692	ensembl	human	known	69_37n	silent	56	41.67	40	SNP	0.893	A
TBC1D8	11138	genome.wustl.edu	37	2	101655055	101655055	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:101655055G>C	ENST00000376840.4	-	7	1097	c.1098C>G	c.(1096-1098)atC>atG	p.I366M	TBC1D8_ENST00000409318.1_Missense_Mutation_p.I381M			O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	366					blood circulation (GO:0008015)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						CCTTGCTTCTGATACTGACAA	0.612																																						dbGAP											0													130.0	139.0	136.0					2																	101655055		2141	4242	6383	-	-	-	SO:0001583	missense	0			AB024057	CCDS46375.1	2q12.1	2011-11-30			ENSG00000204634	ENSG00000204634			17791	protein-coding gene	gene with protein product	"""BUB2-like protein 1"", ""vascular Rab-GAP/TBC-containing protein"""					10373574	Standard	NM_001102426		Approved	HBLP1, VRP, AD3	uc010fiv.3	O95759	OTTHUMG00000153040	ENST00000376840.4:c.1098C>G	2.37:g.101655055G>C	ENSP00000366036:p.Ile366Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDL4|A8K9W1|B9A6K4|Q53SQ4|Q9UQ32	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.I381M	ENST00000376840.4	37	c.1143	CCDS46375.1	2	.	.	.	.	.	.	.	.	.	.	G	16.04	3.010260	0.54361	.	.	ENSG00000204634	ENST00000376840;ENST00000409318	T;T	0.03413	3.94;3.94	5.09	4.12	0.48240	.	0.086238	0.49305	D	0.000148	T	0.06600	0.0169	M	0.65498	2.005	0.30335	N	0.786311	B;B	0.26708	0.07;0.157	B;B	0.32677	0.039;0.15	T	0.01326	-1.1384	10	0.52906	T	0.07	-19.4726	9.6339	0.39795	0.0858:0.0:0.7273:0.1869	.	381;366	B7Z6L4;O95759	.;TBCD8_HUMAN	M	366;381	ENSP00000366036:I366M;ENSP00000386856:I381M	ENSP00000366036:I366M	I	-	3	3	TBC1D8	101021487	0.337000	0.24766	1.000000	0.80357	0.996000	0.88848	0.534000	0.23098	2.360000	0.80028	0.655000	0.94253	ATC	TBC1D8	-	NULL	ENSG00000204634		0.612	TBC1D8-011	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D8	HGNC	protein_coding	OTTHUMT00000376092.1	57	0.00	0	G	NM_007063		101655055	101655055	-1	no_errors	ENST00000409318	ensembl	human	known	69_37n	missense	69	17.86	15	SNP	0.992	C
TBPL2	387332	genome.wustl.edu	37	14	55900357	55900357	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:55900357C>T	ENST00000247219.5	-	4	849	c.779G>A	c.(778-780)gGa>gAa	p.G260E		NM_199047.2	NP_950248.1			TATA box binding protein like 2											endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						CCTTTTGGCTCCCGTGCAGAC	0.438																																						dbGAP											0													147.0	146.0	147.0					14																	55900357		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY457923	CCDS9724.1	14q22.2	2004-06-03			ENSG00000182521	ENSG00000182521			19841	protein-coding gene	gene with protein product		608964				14634207	Standard	NM_199047		Approved	TRF3, TBP2	uc001xby.3	Q6SJ96	OTTHUMG00000140313	ENST00000247219.5:c.779G>A	14.37:g.55900357C>T	ENSP00000247219:p.Gly260Glu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_TBP,prints_TBP	p.G260E	ENST00000247219.5	37	c.779	CCDS9724.1	14	.	.	.	.	.	.	.	.	.	.	C	23.6	4.436017	0.83885	.	.	ENSG00000182521	ENST00000247219	T	0.81247	-1.47	6.03	6.03	0.97812	Transcription factor TFIID, C-terminal/DNA glycosylase, N-terminal (1);Beta2-adaptin/TATA-box binding, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94810	0.8324	H	0.99182	4.46	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96408	0.9302	10	0.87932	D	0	-21.7722	19.5634	0.95382	0.0:1.0:0.0:0.0	.	260	Q6SJ96	TBPL2_HUMAN	E	260	ENSP00000247219:G260E	ENSP00000247219:G260E	G	-	2	0	TBPL2	54970110	1.000000	0.71417	1.000000	0.80357	0.471000	0.32888	7.691000	0.84191	2.868000	0.98415	0.557000	0.71058	GGA	TBPL2	-	pfam_TBP,prints_TBP	ENSG00000182521		0.438	TBPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBPL2	HGNC	protein_coding	OTTHUMT00000276916.1	113	0.00	0	C	NM_199047		55900357	55900357	-1	no_errors	ENST00000247219	ensembl	human	known	69_37n	missense	75	24.24	24	SNP	1.000	T
TBRG1	84897	genome.wustl.edu	37	11	124501208	124501208	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:124501208G>A	ENST00000441174.3	+	8	1189	c.985G>A	c.(985-987)Gat>Aat	p.D329N	TBRG1_ENST00000375005.4_Missense_Mutation_p.D178N|TBRG1_ENST00000438907.2_3'UTR	NM_032811.2	NP_116200.2	Q3YBR2	TBRG1_HUMAN	transforming growth factor beta regulator 1	329					cell cycle arrest (GO:0007050)|DNA replication (GO:0006260)|negative regulation of cell proliferation (GO:0008285)|nucleolus to nucleoplasm transport (GO:0032066)|protein stabilization (GO:0050821)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				kidney(1)|prostate(1)	2	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;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0218)		CAAACCTGGAGATGGGCAGCT	0.458																																						dbGAP											0													124.0	124.0	124.0					11																	124501208		2201	4299	6500	-	-	-	SO:0001583	missense	0			AK074140	CCDS8448.2	11q24.2	2008-02-05			ENSG00000154144	ENSG00000154144			29551	protein-coding gene	gene with protein product	"""nuclear interactor of ARF and MDM2"""	610614				7654366, 17110379	Standard	NM_032811		Approved	FLJ14621, TB-5, NIAM	uc001qak.4	Q3YBR2	OTTHUMG00000153024	ENST00000441174.3:c.985G>A	11.37:g.124501208G>A	ENSP00000409016:p.Asp329Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53GJ5|Q66ZJ6|Q69YS7|Q8TCS4|Q8TEI4|Q96SV0	Missense_Mutation	SNP	pfam_FYrich_N,pfam_FYrich_C,smart_FYrich_N,smart_FYrich_C	p.D329N	ENST00000441174.3	37	c.985	CCDS8448.2	11	.	.	.	.	.	.	.	.	.	.	G	23.7	4.451050	0.84209	.	.	ENSG00000154144	ENST00000441174;ENST00000375005	D;T	0.81499	-1.5;-1.17	5.77	4.85	0.62838	.	0.264081	0.42172	D	0.000746	T	0.71888	0.3393	L	0.32530	0.975	0.41765	D	0.989739	B;P	0.43352	0.027;0.804	B;B	0.42282	0.015;0.382	T	0.69179	-0.5213	10	0.25106	T	0.35	-3.134	11.738	0.51775	0.0867:0.0:0.9133:0.0	.	329;178	Q3YBR2;Q3YBR2-2	TBRG1_HUMAN;.	N	329;178	ENSP00000409016:D329N;ENSP00000364144:D178N	ENSP00000364144:D178N	D	+	1	0	TBRG1	124006418	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	5.925000	0.70062	1.416000	0.47057	0.655000	0.94253	GAT	TBRG1	-	NULL	ENSG00000154144		0.458	TBRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBRG1	HGNC	protein_coding	OTTHUMT00000329057.2	106	0.00	0	G	NM_032811		124501208	124501208	+1	no_errors	ENST00000441174	ensembl	human	known	69_37n	missense	42	52.27	46	SNP	1.000	A
TBX19	9095	genome.wustl.edu	37	1	168262409	168262409	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:168262409G>T	ENST00000367821.3	+	3	547	c.496G>T	c.(496-498)Gaa>Taa	p.E166*		NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	166					anatomical structure morphogenesis (GO:0009653)|cell fate commitment (GO:0045165)|pituitary gland development (GO:0021983)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					GCATAAATATGAACCCCAGGT	0.473																																						dbGAP											0													121.0	112.0	115.0					1																	168262409		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AJ010277	CCDS1272.1	1q23-q24	2008-02-05			ENSG00000143178	ENSG00000143178		"""T-boxes"""	11596	protein-coding gene	gene with protein product	"""TBS 19"""	604614				9888994	Standard	NM_005149		Approved	dj747L4.1, TPIT	uc001gfl.3	O60806	OTTHUMG00000034648	ENST00000367821.3:c.496G>T	1.37:g.168262409G>T	ENSP00000356795:p.Glu166*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q52M53	Nonsense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box,prints_TF_Brachyury	p.E166*	ENST00000367821.3	37	c.496	CCDS1272.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.878727|5.878727	0.97055|0.97055	.|.	.|.	ENSG00000143178|ENSG00000143178	ENST00000367821;ENST00000367828|ENST00000431969	.|.	.|.	.|.	5.02|5.02	5.02|5.02	0.67125|0.67125	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|.	A|.	1.000000|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.56958|.	D|.	0.05|.	.|.	17.9571|17.9571	0.89073|0.89073	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	166;106|98	.|.	ENSP00000356795:E166X|.	E|X	+|+	1|2	0|2	TBX19|TBX19	166529033|166529033	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.929000|0.929000	0.56500|0.56500	7.352000|7.352000	0.79404|0.79404	2.323000|2.323000	0.78572|0.78572	0.563000|0.563000	0.77884|0.77884	GAA|TGA	TBX19	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box,prints_TF_Brachyury	ENSG00000143178		0.473	TBX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX19	HGNC	protein_coding	OTTHUMT00000083825.1	109	0.00	0	G	NM_005149		168262409	168262409	+1	no_errors	ENST00000367821	ensembl	human	known	69_37n	nonsense	145	15.20	26	SNP	1.000	T
TCEA1	6917	genome.wustl.edu	37	8	54906232	54906232	+	Missense_Mutation	SNP	C	C	G	rs61740799	byFrequency	TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:54906232C>G	ENST00000521604.2	-	4	719	c.316G>C	c.(316-318)Gaa>Caa	p.E106Q	TCEA1_ENST00000520534.1_Missense_Mutation_p.E106Q|TCEA1_ENST00000521086.2_5'UTR|TCEA1_ENST00000522635.1_Intron|TCEA1_ENST00000396401.3_Missense_Mutation_p.E85Q	NM_006756.2	NP_006747.1	P23193	TCEA1_HUMAN	transcription elongation factor A (SII), 1	106					DNA repair (GO:0006281)|erythrocyte differentiation (GO:0030218)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|regulation of DNA-templated transcription, elongation (GO:0032784)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;9.1e-07)|Epithelial(17;9.44e-05)|all cancers(17;0.000699)			AAGTACCTTTCTTCTCTTGCC	0.378			T	PLAG1	salivary adenoma																																	dbGAP		Dom	yes		8	8q11.2	6917	"""transcription elongation factor A (SII), 1"""		E	0													175.0	165.0	168.0					8																	54906232		1840	4089	5929	-	-	-	SO:0001583	missense	0			X62585	CCDS47857.1, CCDS47858.1	8q11.2	2011-01-25			ENSG00000187735	ENSG00000187735		"""General transcription factors"""	11612	protein-coding gene	gene with protein product		601425		TCEA, GTF2S		8812434, 8112616	Standard	NM_006756		Approved	SII, TF2S, TFIIS	uc003xru.3	P23193	OTTHUMG00000164262	ENST00000521604.2:c.316G>C	8.37:g.54906232C>G	ENSP00000428426:p.Glu106Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NF25|A8K339|Q15563|Q6FG87	Missense_Mutation	SNP	pfam_TFIIS_cen_dom,pfam_Znf_TFIIS,pfam_TFIIS_N,superfamily_TFIIS_cen_dom,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_TFS2M,smart_Znf_TFIIS,pirsf_TF_IIS-rel,pfscan_Znf_TFIIS,tigrfam_TFSII	p.E106Q	ENST00000521604.2	37	c.316	CCDS47858.1	8	.	.	.	.	.	.	.	.	.	.	C	16.38	3.106815	0.56291	.	.	ENSG00000187735	ENST00000396401;ENST00000521604;ENST00000520534	.	.	.	4.89	4.89	0.63831	.	0.141895	0.50627	D	0.000110	T	0.52613	0.1745	L	0.34521	1.04	0.80722	D	1	B;B	0.30021	0.005;0.265	B;B	0.29267	0.015;0.1	T	0.48958	-0.8988	9	0.23302	T	0.38	.	18.4354	0.90643	0.0:1.0:0.0:0.0	.	85;106	P23193-2;P23193	.;TCEA1_HUMAN	Q	85;106;106	.	ENSP00000395483:E85Q	E	-	1	0	TCEA1	55068785	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.016000	0.76393	2.407000	0.81776	0.591000	0.81541	GAA	TCEA1	-	pirsf_TF_IIS-rel,tigrfam_TFSII	ENSG00000187735		0.378	TCEA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEA1	HGNC	protein_coding	OTTHUMT00000377975.2	215	0.00	0	C	NM_006756		54906232	54906232	-1	no_errors	ENST00000521604	ensembl	human	known	69_37n	missense	202	18.22	45	SNP	1.000	G
TCEANC	170082	genome.wustl.edu	37	X	13681278	13681278	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:13681278C>G	ENST00000380600.1	+	2	738	c.651C>G	c.(649-651)atC>atG	p.I217M	TCEANC_ENST00000545566.1_Missense_Mutation_p.I217M|TCEANC_ENST00000314720.4_Missense_Mutation_p.I247M|TCEANC_ENST00000490617.1_3'UTR|TCEANC_ENST00000544987.1_Missense_Mutation_p.I217M			Q8N8B7	TEANC_HUMAN	transcription elongation factor A (SII) N-terminal and central domain containing	217	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|large_intestine(5)|lung(2)|pancreas(1)	9						CAAAGAACATCAAAAAATATA	0.368																																						dbGAP											0													34.0	31.0	32.0					X																	13681278		1810	4074	5884	-	-	-	SO:0001583	missense	0				CCDS48081.1, CCDS75954.1	Xp22.2	2009-01-30			ENSG00000176896	ENSG00000176896			28277	protein-coding gene	gene with protein product						12477932	Standard	XM_005274454		Approved	MGC17403	uc010neg.1	Q8N8B7	OTTHUMG00000021154	ENST00000380600.1:c.651C>G	X.37:g.13681278C>G	ENSP00000369974:p.Ile217Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NI06|B2RDM3	Nonsense_Mutation	SNP	pfam_TFIIS_cen_dom,superfamily_TFIIS_cen_dom,smart_TFS2M,pirsf_TF_IIS-rel	p.S139*	ENST00000380600.1	37	c.416		X	.	.	.	.	.	.	.	.	.	.	C	6.893	0.534334	0.13188	.	.	ENSG00000176896	ENST00000545566;ENST00000544987;ENST00000314720;ENST00000380600	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.26	2.48	0.30137	Transcription elongation factor S-II, central domain (4);	0.640791	0.15058	N	0.282884	T	0.27384	0.0672	L	0.36672	1.1	0.20764	N	0.999852	P;P	0.44380	0.834;0.772	B;B	0.38378	0.242;0.272	T	0.13548	-1.0505	10	0.48119	T	0.1	.	3.8855	0.09096	0.245:0.5234:0.1169:0.1148	.	247;217	Q8N8B7-2;Q8N8B7	.;TEANC_HUMAN	M	217;217;247;217	ENSP00000438952:I217M;ENSP00000440038:I217M;ENSP00000313886:I247M;ENSP00000369974:I217M	ENSP00000313886:I247M	I	+	3	3	TCEANC	13591199	1.000000	0.71417	0.867000	0.34043	0.777000	0.43975	0.692000	0.25482	0.170000	0.19704	-0.917000	0.02746	ATC	TCEANC	-	pfam_TFIIS_cen_dom,superfamily_TFIIS_cen_dom,smart_TFS2M,pirsf_TF_IIS-rel	ENSG00000176896		0.368	TCEANC-002	KNOWN	basic|appris_principal	protein_coding	TCEANC	HGNC	protein_coding	OTTHUMT00000055796.1	49	0.00	0	C	NM_152634		13681278	13681278	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000467590	ensembl	human	known	69_37n	nonsense	26	25.71	9	SNP	0.401	G
TCEAL3	85012	genome.wustl.edu	37	X	102864443	102864443	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:102864443G>C	ENST00000372628.1	+	3	809	c.451G>C	c.(451-453)Gag>Cag	p.E151Q	TCEAL3_ENST00000477014.1_Intron|TCEAL3_ENST00000243286.3_Missense_Mutation_p.E151Q|TCEAL3_ENST00000372627.5_Missense_Mutation_p.E151Q			Q969E4	TCAL3_HUMAN	transcription elongation factor A (SII)-like 3	151					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						AAGGGCTCAAGAGGAGCTAAG	0.507																																						dbGAP											0													294.0	254.0	268.0					X																	102864443		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC008703	CCDS14511.1	Xq22.2	2014-03-21			ENSG00000196507	ENSG00000196507			28247	protein-coding gene	gene with protein product						16221301	Standard	NM_032926		Approved	MGC15737, WEX8	uc004ekr.3	Q969E4	OTTHUMG00000022106	ENST00000372628.1:c.451G>C	X.37:g.102864443G>C	ENSP00000361711:p.Glu151Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DXA4	Missense_Mutation	SNP	pfam_TF_A-like/BEX-like	p.E151Q	ENST00000372628.1	37	c.451	CCDS14511.1	X	.	.	.	.	.	.	.	.	.	.	G	17.03	3.283998	0.59867	.	.	ENSG00000196507	ENST00000372628;ENST00000372627;ENST00000243286	T;T;T	0.15718	2.4;2.4;2.4	4.59	3.72	0.42706	.	0.000000	0.39909	N	0.001222	T	0.31918	0.0812	M	0.71581	2.175	0.30751	N	0.745127	D	0.62365	0.991	P	0.58210	0.835	T	0.26189	-1.0110	10	0.49607	T	0.09	.	9.5257	0.39162	0.0:0.2083:0.7917:0.0	.	151	Q969E4	TCAL3_HUMAN	Q	151	ENSP00000361711:E151Q;ENSP00000361710:E151Q;ENSP00000243286:E151Q	ENSP00000243286:E151Q	E	+	1	0	TCEAL3	102751099	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.210000	0.42816	1.257000	0.44085	0.538000	0.68166	GAG	TCEAL3	-	pfam_TF_A-like/BEX-like	ENSG00000196507		0.507	TCEAL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEAL3	HGNC	protein_coding	OTTHUMT00000057737.1	339	0.00	0	G	NM_032926		102864443	102864443	+1	no_errors	ENST00000243286	ensembl	human	known	69_37n	missense	292	21.29	79	SNP	1.000	C
TCEB3B	51224	genome.wustl.edu	37	18	44561197	44561197	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr18:44561197G>T	ENST00000332567.4	-	1	791	c.439C>A	c.(439-441)Cac>Aac	p.H147N	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	147					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TCGCGACTGTGAGACCTCGGG	0.642																																						dbGAP											0													52.0	60.0	57.0					18																	44561197		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.439C>A	18.37:g.44561197G>T	ENSP00000331302:p.His147Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9P2V9	Missense_Mutation	SNP	pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub	p.H147N	ENST00000332567.4	37	c.439	CCDS11932.1	18	.	.	.	.	.	.	.	.	.	.	G	7.102	0.574243	0.13623	.	.	ENSG00000206181	ENST00000332567	T	0.06933	3.24	2.31	2.31	0.28768	.	1.514590	0.04503	U	0.381588	T	0.07999	0.0200	L	0.32530	0.975	0.09310	N	1	B	0.24675	0.109	B	0.19666	0.026	T	0.29243	-1.0018	10	0.25751	T	0.34	-7.1024	8.2737	0.31860	0.0:0.0:1.0:0.0	.	147	Q8IYF1	ELOA2_HUMAN	N	147	ENSP00000331302:H147N	ENSP00000331302:H147N	H	-	1	0	TCEB3B	42815195	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.084000	0.11268	1.646000	0.50622	0.556000	0.70494	CAC	TCEB3B	-	NULL	ENSG00000206181		0.642	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEB3B	HGNC	protein_coding	OTTHUMT00000255900.1	89	0.00	0	G	NM_016427		44561197	44561197	-1	no_errors	ENST00000332567	ensembl	human	known	69_37n	missense	56	31.71	26	SNP	0.001	T
TCF12	6938	genome.wustl.edu	37	15	57555420	57555420	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:57555420G>C	ENST00000267811.5	+	17	1925	c.1621G>C	c.(1621-1623)Gat>Cat	p.D541H	TCF12_ENST00000559710.1_Missense_Mutation_p.D175H|TCF12_ENST00000557843.1_Missense_Mutation_p.D541H|TCF12_ENST00000537840.1_Missense_Mutation_p.D305H|TCF12_ENST00000438423.2_Missense_Mutation_p.D565H|TCF12_ENST00000543579.1_Missense_Mutation_p.D395H|TCF12_ENST00000452095.2_Missense_Mutation_p.D561H|TCF12_ENST00000333725.5_Missense_Mutation_p.D565H|TCF12_ENST00000343827.3_Missense_Mutation_p.D371H|TCF12_ENST00000559703.1_Missense_Mutation_p.D199H	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	541					immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		CATGAAGTCAGATGATGAATC	0.353			T	TEC	extraskeletal myxoid chondrosarcoma																																	dbGAP		Dom	yes		15	15q21	6938	"""transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"""		M	0													82.0	80.0	80.0					15																	57555420		2192	4292	6484	-	-	-	SO:0001583	missense	0			BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"""Basic helix-loop-helix proteins"""	11623	protein-coding gene	gene with protein product	"""helix-loop-helix transcription factor 4"""	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.1621G>C	15.37:g.57555420G>C	ENSP00000267811:p.Asp541His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z3D9|Q86TC1|Q86VM2	Missense_Mutation	SNP	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.D565H	ENST00000267811.5	37	c.1693	CCDS10159.1	15	.	.	.	.	.	.	.	.	.	.	G	23.3	4.396321	0.83011	.	.	ENSG00000140262	ENST00000543236;ENST00000267811;ENST00000438423;ENST00000452095;ENST00000333725;ENST00000543579;ENST00000537840;ENST00000343827;ENST00000543417	T;T;T;T;T;T;T	0.27104	2.29;2.3;2.3;2.3;2.05;1.69;2.04	5.64	5.64	0.86602	.	0.045003	0.85682	D	0.000000	T	0.51449	0.1675	M	0.62723	1.935	0.80722	D	1	D;D;P;D;D;P;D;D;D;D	0.89917	0.999;0.999;0.944;0.991;1.0;0.713;0.967;1.0;0.999;1.0	P;D;P;P;D;B;P;D;D;D	0.83275	0.901;0.99;0.77;0.751;0.996;0.234;0.885;0.996;0.99;0.996	T	0.44997	-0.9291	10	0.66056	D	0.02	-17.5497	19.5025	0.95103	0.0:0.0:1.0:0.0	.	561;175;395;305;561;593;395;371;541;565	B4DGI9;B4DZP2;B4DH96;B4E1W1;E9PGY0;F5H6Z6;F5GY10;Q99081-2;Q99081;Q99081-3	.;.;.;.;.;.;.;.;HTF4_HUMAN;.	H	593;541;565;561;565;395;305;371;154	ENSP00000267811:D541H;ENSP00000388940:D565H;ENSP00000396881:D561H;ENSP00000331057:D565H;ENSP00000440017:D395H;ENSP00000444696:D305H;ENSP00000342459:D371H	ENSP00000267811:D541H	D	+	1	0	TCF12	55342712	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.870000	0.87175	2.937000	0.99478	0.650000	0.86243	GAT	TCF12	-	NULL	ENSG00000140262		0.353	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TCF12	HGNC	protein_coding	OTTHUMT00000255069.3	84	0.00	0	G	NM_003205		57555420	57555420	+1	no_errors	ENST00000438423	ensembl	human	known	69_37n	missense	43	50.00	43	SNP	1.000	C
TCF25	22980	genome.wustl.edu	37	16	89967130	89967130	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:89967130G>C	ENST00000263346.8	+	12	1365	c.1309G>C	c.(1309-1311)Gag>Cag	p.E437Q	TCF25_ENST00000263347.7_Missense_Mutation_p.E202Q	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	437					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)		AGACCTCCCTGAGTGTGAGCA	0.592																																						dbGAP											0													96.0	88.0	90.0					16																	89967130		2198	4300	6498	-	-	-	SO:0001583	missense	0			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.1309G>C	16.37:g.89967130G>C	ENSP00000263346:p.Glu437Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2MK75|Q9UPV3	Missense_Mutation	SNP	pfam_TCF25	p.E437Q	ENST00000263346.8	37	c.1309	CCDS10987.1	16	.	.	.	.	.	.	.	.	.	.	G	9.626	1.135013	0.21123	.	.	ENSG00000141002	ENST00000263346;ENST00000263347	.	.	.	5.52	2.37	0.29283	.	0.527343	0.20836	N	0.084792	T	0.34077	0.0885	N	0.19112	0.55	0.09310	N	1	B;B	0.23990	0.03;0.095	B;B	0.19946	0.017;0.027	T	0.18178	-1.0345	9	0.46703	T	0.11	.	15.8467	0.78899	0.0:0.4011:0.5989:0.0	.	202;437	Q9H384;Q9BQ70	.;TCF25_HUMAN	Q	437;202	.	ENSP00000263346:E437Q	E	+	1	0	TCF25	88494631	0.050000	0.20438	0.001000	0.08648	0.300000	0.27592	1.336000	0.33850	0.255000	0.21593	0.563000	0.77884	GAG	TCF25	-	pfam_TCF25	ENSG00000141002		0.592	TCF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF25	HGNC	protein_coding	OTTHUMT00000272875.2	88	0.00	0	G	NM_014972		89967130	89967130	+1	no_errors	ENST00000263346	ensembl	human	known	69_37n	missense	105	19.23	25	SNP	0.003	C
TCF7	6932	genome.wustl.edu	37	5	133451662	133451662	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:133451662C>A	ENST00000321584.4	+	3	575	c.379C>A	c.(379-381)Ctg>Atg	p.L127M	TCF7_ENST00000395029.1_Missense_Mutation_p.L127M|TCF7_ENST00000378564.1_Missense_Mutation_p.L127M|TCF7_ENST00000432532.2_Missense_Mutation_p.L12M|TCF7_ENST00000520958.1_Missense_Mutation_p.L12M|TCF7_ENST00000378560.4_Missense_Mutation_p.L12M|TCF7_ENST00000518915.1_Missense_Mutation_p.L12M|TCF7_ENST00000395023.1_Missense_Mutation_p.L12M|TCF7_ENST00000321603.6_Missense_Mutation_p.L127M|TCF7_ENST00000342854.5_Missense_Mutation_p.L127M			P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific, HMG-box)	127					alpha-beta T cell differentiation (GO:0046632)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cellular response to interleukin-4 (GO:0071353)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|generation of neurons (GO:0048699)|immune response (GO:0006955)|neural tube development (GO:0021915)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor V(D)J recombination (GO:0033153)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			kidney(2)|large_intestine(7)|lung(2)|skin(1)	12		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CGCCTTCAATCTGCTCATGCA	0.652																																						dbGAP											0													72.0	70.0	70.0					5																	133451662		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z47362	CCDS4169.1, CCDS4170.1, CCDS43362.1, CCDS47263.1, CCDS47263.2	5q31	2008-02-05			ENSG00000081059	ENSG00000081059			11639	protein-coding gene	gene with protein product		189908					Standard	NM_003202		Approved	TCF-1	uc003kyt.3	P36402	OTTHUMG00000129124	ENST00000321584.4:c.379C>A	5.37:g.133451662C>A	ENSP00000326540:p.Leu127Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KSH3|Q86WR9|Q9UKI4	Missense_Mutation	SNP	pfam_CTNNB1-bd_N,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.L127M	ENST00000321584.4	37	c.379		5	.	.	.	.	.	.	.	.	.	.	C	19.13	3.766874	0.69878	.	.	ENSG00000081059	ENST00000342854;ENST00000361590;ENST00000321603;ENST00000321584;ENST00000378564;ENST00000395029;ENST00000518887;ENST00000517851;ENST00000521639;ENST00000522375;ENST00000378560;ENST00000432532;ENST00000520958;ENST00000518915;ENST00000395023	D;D;D;D;D;D;D;D;D;D	0.99436	-5.5;-5.5;-5.5;-5.52;-5.52;-5.83;-5.9;-5.85;-5.86;-5.85	5.2	4.33	0.51752	CTNNB1 binding, N-teminal (1);	0.069387	0.56097	D	0.000030	D	0.98723	0.9571	L	0.36672	1.1	0.24833	N	0.99252	D;D;D;D	0.76494	0.991;0.999;0.989;0.997	D;D;D;D	0.87578	0.934;0.998;0.916;0.991	D	0.94745	0.7922	10	0.15066	T	0.55	.	8.7605	0.34672	0.0:0.8997:0.0:0.1003	.	127;127;127;127	P36402-9;B7WNT5;P36402;P36402-5	.;.;TCF7_HUMAN;.	M	127;127;127;127;127;127;12;12;12;12;12;12;12;12;12	ENSP00000340347:L127M;ENSP00000326654:L127M;ENSP00000326540:L127M;ENSP00000367827:L127M;ENSP00000378472:L127M;ENSP00000367822:L12M;ENSP00000397946:L12M;ENSP00000429547:L12M;ENSP00000430179:L12M;ENSP00000378469:L12M	ENSP00000326540:L127M	L	+	1	2	TCF7	133479561	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.780000	0.38634	2.430000	0.82344	0.558000	0.71614	CTG	TCF7	-	pfam_CTNNB1-bd_N	ENSG00000081059		0.652	TCF7-201	KNOWN	basic	protein_coding	TCF7	HGNC	protein_coding		67	0.00	0	C	NM_201634		133451662	133451662	+1	no_errors	ENST00000321584	ensembl	human	known	69_37n	missense	40	31.03	18	SNP	1.000	A
TCF7L2	6934	genome.wustl.edu	37	10	114724346	114724346	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:114724346C>T	ENST00000355995.4	+	4	920	c.413C>T	c.(412-414)tCt>tTt	p.S138F	TCF7L2_ENST00000538897.1_Missense_Mutation_p.S138F|TCF7L2_ENST00000534894.1_Missense_Mutation_p.S138F|TCF7L2_ENST00000536810.1_Missense_Mutation_p.S138F|TCF7L2_ENST00000542695.1_Intron|TCF7L2_ENST00000369397.4_Intron|TCF7L2_ENST00000543371.1_Missense_Mutation_p.S138F|TCF7L2_ENST00000355717.4_Intron|TCF7L2_ENST00000369395.1_Intron|TCF7L2_ENST00000349937.2_Missense_Mutation_p.S138F|TCF7L2_ENST00000545257.1_Missense_Mutation_p.S138F|TCF7L2_ENST00000352065.5_Intron			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	138					blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		ACACATTACTCTGCGTACAAA	0.393			T	VTI1A	colorectal																																	dbGAP		Dom	yes		10	10q25.3	6934	transcription factor 7-like 2		E	0													144.0	127.0	132.0					10																	114724346		1568	3582	5150	-	-	-	SO:0001583	missense	0			X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737			11641	protein-coding gene	gene with protein product		602228		TCF4		1741298	Standard	NM_001146283		Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000355995.4:c.413C>T	10.37:g.114724346C>T	ENSP00000348274:p.Ser138Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Missense_Mutation	SNP	pfam_CTNNB1-bd_N,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.S138F	ENST00000355995.4	37	c.413		10	.	.	.	.	.	.	.	.	.	.	C	22.5	4.295175	0.81025	.	.	ENSG00000148737	ENST00000355995;ENST00000545257;ENST00000543371;ENST00000536810;ENST00000538897;ENST00000534894;ENST00000349937;ENST00000346198	D;D;D;D;D;D	0.99232	-5.02;-5.02;-5.01;-5.03;-5.6;-5.59	5.71	5.71	0.89125	.	.	.	.	.	D	0.98516	0.9505	N	0.14661	0.345	0.80722	D	1	D;D	0.67145	0.996;0.994	D;D	0.79784	0.993;0.989	D	0.99521	1.0958	9	0.59425	D	0.04	.	15.3559	0.74425	0.0:1.0:0.0:0.0	.	138;138	B9X074;Q9NQB0-7	.;.	F	138;138;138;138;138;138;138;85	ENSP00000348274:S138F;ENSP00000440547:S138F;ENSP00000444972:S138F;ENSP00000446238:S138F;ENSP00000446172:S138F;ENSP00000443626:S138F	ENSP00000345640:S85F	S	+	2	0	TCF7L2	114714336	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.858000	0.55979	2.688000	0.91661	0.591000	0.81541	TCT	TCF7L2	-	pfam_CTNNB1-bd_N	ENSG00000148737		0.393	TCF7L2-203	KNOWN	basic	protein_coding	TCF7L2	HGNC	protein_coding		99	0.00	0	C	NM_030756		114724346	114724346	+1	no_errors	ENST00000355995	ensembl	human	known	69_37n	missense	67	18.29	15	SNP	1.000	T
TCHH	7062	genome.wustl.edu	37	1	152083905	152083905	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:152083905C>G	ENST00000368804.1	-	2	1787	c.1788G>C	c.(1786-1788)gaG>gaC	p.E596D		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	596	9 X 28 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTCGAGCCTCTCTTCCTGCT	0.682																																						dbGAP											0													42.0	47.0	46.0					1																	152083905		1961	4130	6091	-	-	-	SO:0001583	missense	0			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.1788G>C	1.37:g.152083905C>G	ENSP00000357794:p.Glu596Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VUI3	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.E596D	ENST00000368804.1	37	c.1788	CCDS41396.1	1	.	.	.	.	.	.	.	.	.	.	c	7.886	0.731185	0.15507	.	.	ENSG00000159450	ENST00000368804	T	0.05580	3.42	2.39	0.175	0.15045	.	.	.	.	.	T	0.03564	0.0102	N	0.24115	0.695	0.09310	N	1	D	0.67145	0.996	D	0.73708	0.981	T	0.43130	-0.9410	9	0.20046	T	0.44	.	6.6388	0.22897	0.0:0.7103:0.0:0.2897	.	596	Q07283	TRHY_HUMAN	D	596	ENSP00000357794:E596D	ENSP00000357794:E596D	E	-	3	2	TCHH	150350529	0.000000	0.05858	0.004000	0.12327	0.044000	0.14063	0.346000	0.19997	0.195000	0.20347	0.187000	0.17357	GAG	TCHH	-	NULL	ENSG00000159450		0.682	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHH	HGNC	protein_coding	OTTHUMT00000036671.2	74	0.00	0	C	NM_007113		152083905	152083905	-1	no_errors	ENST00000368804	ensembl	human	known	69_37n	missense	69	16.87	14	SNP	0.086	G
TCHHL1	126637	genome.wustl.edu	37	1	152058780	152058780	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:152058780C>T	ENST00000368806.1	-	3	1442	c.1378G>A	c.(1378-1380)Gaa>Aaa	p.E460K		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	460							calcium ion binding (GO:0005509)			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			GCTGTTCCTTCAAGTTCAGGG	0.448																																						dbGAP											0													241.0	224.0	230.0					1																	152058780		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"""S100 calcium binding proteins"""	31796	protein-coding gene	gene with protein product			"""S100 calcium binding protein A17"""	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.1378G>A	1.37:g.152058780C>T	ENSP00000357796:p.Glu460Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPK8|Q5VTJ9	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub	p.E460K	ENST00000368806.1	37	c.1378	CCDS30857.1	1	.	.	.	.	.	.	.	.	.	.	.	9.535	1.111869	0.20714	.	.	ENSG00000182898	ENST00000368806	T	0.19532	2.14	5.59	-0.226	0.13106	.	0.354198	0.20623	N	0.088730	T	0.03348	0.0097	L	0.28115	0.83	0.09310	N	1	B	0.27351	0.176	B	0.26517	0.07	T	0.45527	-0.9255	10	0.10636	T	0.68	-2.8574	8.7597	0.34667	0.0:0.5208:0.0:0.4792	.	460	Q5QJ38	TCHL1_HUMAN	K	460	ENSP00000357796:E460K	ENSP00000357796:E460K	E	-	1	0	TCHHL1	150325404	0.003000	0.15002	0.000000	0.03702	0.132000	0.20833	0.383000	0.20651	0.043000	0.15746	0.650000	0.86243	GAA	TCHHL1	-	NULL	ENSG00000182898		0.448	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHHL1	HGNC	protein_coding	OTTHUMT00000036638.2	187	0.00	0	C	XM_060104		152058780	152058780	-1	no_errors	ENST00000368806	ensembl	human	known	69_37n	missense	135	34.78	72	SNP	0.000	T
TCHH	7062	genome.wustl.edu	37	1	152085347	152085347	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:152085347C>G	ENST00000368804.1	-	2	345	c.346G>C	c.(346-348)Gaa>Caa	p.E116Q		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	116					keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGTCTTCTTCTTGCCTGCGA	0.572																																						dbGAP											0													209.0	200.0	203.0					1																	152085347		1960	4155	6115	-	-	-	SO:0001583	missense	0			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.346G>C	1.37:g.152085347C>G	ENSP00000357794:p.Glu116Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VUI3	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.E116Q	ENST00000368804.1	37	c.346	CCDS41396.1	1	.	.	.	.	.	.	.	.	.	.	c	11.74	1.728296	0.30593	.	.	ENSG00000159450	ENST00000368804	T	0.05717	3.4	5.01	5.01	0.66863	.	.	.	.	.	T	0.03959	0.0111	N	0.08118	0	0.27686	N	0.946261	D	0.89917	1.0	D	0.69307	0.963	T	0.45101	-0.9284	9	0.35671	T	0.21	-7.4185	9.2932	0.37800	0.0:0.905:0.0:0.095	.	116	Q07283	TRHY_HUMAN	Q	116	ENSP00000357794:E116Q	ENSP00000357794:E116Q	E	-	1	0	TCHH	150351971	1.000000	0.71417	0.999000	0.59377	0.608000	0.37181	3.363000	0.52321	2.601000	0.87937	0.552000	0.68991	GAA	TCHH	-	NULL	ENSG00000159450		0.572	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHH	HGNC	protein_coding	OTTHUMT00000036671.2	173	0.00	0	C	NM_007113		152085347	152085347	-1	no_errors	ENST00000368804	ensembl	human	known	69_37n	missense	246	10.87	30	SNP	1.000	G
TCHP	84260	genome.wustl.edu	37	12	110340998	110340998	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:110340998C>T	ENST00000312777.5	+	2	381	c.167C>T	c.(166-168)tCt>tTt	p.S56F	TCHP_ENST00000405876.4_Missense_Mutation_p.S56F	NM_032300.4	NP_115676.1			trichoplein, keratin filament binding											NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2)	22						GAATGGAGCTCTAAAACCTCC	0.562																																						dbGAP											0													93.0	79.0	84.0					12																	110340998		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK092736	CCDS9137.1	12q24.11	2011-08-25	2006-01-27			ENSG00000139437			28135	protein-coding gene	gene with protein product	"""mitostatin"""	612654				15731013, 20930847	Standard	NM_032300		Approved	MGC10854, TpMs	uc001tpn.3	Q9BT92		ENST00000312777.5:c.167C>T	12.37:g.110340998C>T	ENSP00000324404:p.Ser56Phe	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.S56F	ENST00000312777.5	37	c.167	CCDS9137.1	12	.	.	.	.	.	.	.	.	.	.	C	23.7	4.442889	0.83993	.	.	ENSG00000139437	ENST00000405876;ENST00000536868;ENST00000312777;ENST00000536408	T;T;T	0.60171	1.1;1.1;0.21	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.75774	0.3895	M	0.77616	2.38	0.80722	D	1	D	0.71674	0.998	D	0.81914	0.995	T	0.79475	-0.1788	10	0.66056	D	0.02	-6.372	15.2104	0.73219	0.0:1.0:0.0:0.0	.	56	Q9BT92	TCHP_HUMAN	F	56	ENSP00000384520:S56F;ENSP00000324404:S56F;ENSP00000441835:S56F	ENSP00000324404:S56F	S	+	2	0	TCHP	108825381	1.000000	0.71417	0.998000	0.56505	0.961000	0.63080	6.403000	0.73264	2.186000	0.69663	0.449000	0.29647	TCT	TCHP	-	NULL	ENSG00000139437		0.562	TCHP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TCHP	HGNC	protein_coding	OTTHUMT00000403289.1	27	0.00	0	C	NM_032300		110340998	110340998	+1	no_errors	ENST00000312777	ensembl	human	known	69_37n	missense	37	15.91	7	SNP	0.998	T
TCN1	6947	genome.wustl.edu	37	11	59633941	59633941	+	Start_Codon_SNP	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:59633941C>G	ENST00000257264.3	-	1	107	c.3G>C	c.(1-3)atG>atC	p.M1I	TCN1_ENST00000532419.1_5'UTR	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	1					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)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cobalamin binding (GO:0031419)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTGACTGTCTCATCTCTCCAA	0.448																																						dbGAP											0													99.0	111.0	107.0					11																	59633941		2201	4295	6496	-	-	-	SO:0001582	initiator_codon_variant	0			J05068	CCDS7978.1	11q11-q12	2008-07-21			ENSG00000134827	ENSG00000134827			11652	protein-coding gene	gene with protein product	"""haptocorin"", ""haptocorrin"""	189905					Standard	NM_001062		Approved	TCI, TC1	uc001noj.2	P20061	OTTHUMG00000167400	ENST00000257264.3:c.3G>C	11.37:g.59633941C>G	ENSP00000257264:p.Met1Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAC5|Q8WV77	Missense_Mutation	SNP	pfam_Cbl-bd_transpt_euk	p.M1I	ENST00000257264.3	37	c.3	CCDS7978.1	11	.	.	.	.	.	.	.	.	.	.	C	12.73	2.026258	0.35701	.	.	ENSG00000134827	ENST00000257264	T	0.40225	1.04	4.95	4.04	0.47022	.	0.272209	0.30830	N	0.008795	T	0.33059	0.0850	.	.	.	0.80722	D	1	P	0.37781	0.608	B	0.32980	0.156	T	0.22138	-1.0225	9	0.87932	D	0	-23.8333	9.3809	0.38313	0.0:0.9006:0.0:0.0994	.	1	P20061	TCO1_HUMAN	I	1	ENSP00000257264:M1I	ENSP00000257264:M1I	M	-	3	0	TCN1	59390517	0.940000	0.31905	0.454000	0.27019	0.100000	0.18952	2.144000	0.42197	1.218000	0.43458	0.561000	0.74099	ATG	TCN1	-	NULL	ENSG00000134827		0.448	TCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCN1	HGNC	protein_coding	OTTHUMT00000394503.1	117	0.00	0	C	NM_001062	Missense_Mutation	59633941	59633941	-1	no_errors	ENST00000257264	ensembl	human	known	69_37n	missense	83	35.16	45	SNP	0.949	G
TCOF1	6949	genome.wustl.edu	37	5	149771697	149771697	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:149771697G>C	ENST00000504761.2	+	21	3475	c.3475G>C	c.(3475-3477)Gat>Cat	p.D1159H	TCOF1_ENST00000445265.2_Missense_Mutation_p.D1082H|TCOF1_ENST00000451292.1_Missense_Mutation_p.D1196H|TCOF1_ENST00000323668.7_Missense_Mutation_p.D1082H|TCOF1_ENST00000513346.1_Missense_Mutation_p.D1158H|TCOF1_ENST00000377797.3_Missense_Mutation_p.D1159H|TCOF1_ENST00000439160.2_Missense_Mutation_p.D1121H			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1159					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGTGAGGAAGATGGTGAAGG	0.612																																						dbGAP											0													58.0	60.0	59.0					5																	149771697		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.3475G>C	5.37:g.149771697G>C	ENSP00000421655:p.Asp1159His	Somatic		WXS	Illumina GAIIx	Phase_IV	A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Missense_Mutation	SNP	pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS	p.D1196H	ENST00000504761.2	37	c.3586	CCDS54936.1	5	.	.	.	.	.	.	.	.	.	.	G	10.94	1.492643	0.26774	.	.	ENSG00000070814	ENST00000451292;ENST00000377797;ENST00000445265;ENST00000323668;ENST00000439160;ENST00000427724;ENST00000504761;ENST00000513346	T;T;T;T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25	5.45	3.65	0.41850	.	0.592946	0.14113	N	0.340562	T	0.72614	0.3482	L	0.50333	1.59	0.09310	N	1	D;D;D;D;D	0.69078	0.997;0.997;0.997;0.996;0.997	D;D;D;P;D	0.63192	0.912;0.912;0.912;0.819;0.912	T	0.60627	-0.7226	10	0.66056	D	0.02	-3.8817	7.7091	0.28667	0.0877:0.1647:0.7475:0.0	.	1121;1082;1121;1159;1082	Q13428-7;Q13428-2;Q13428-6;Q13428;Q13428-8	.;.;.;TCOF_HUMAN;.	H	1196;1159;1082;1082;1121;1121;1159;1158	ENSP00000400939:D1196H;ENSP00000367028:D1159H;ENSP00000409944:D1082H;ENSP00000325223:D1082H;ENSP00000406888:D1121H;ENSP00000390717:D1121H;ENSP00000421655:D1159H;ENSP00000427484:D1158H	ENSP00000325223:D1082H	D	+	1	0	TCOF1	149751890	0.037000	0.19845	0.004000	0.12327	0.017000	0.09413	1.701000	0.37825	0.773000	0.33404	0.655000	0.94253	GAT	TCOF1	-	NULL	ENSG00000070814		0.612	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	TCOF1	HGNC	protein_coding	OTTHUMT00000380552.1	45	0.00	0	G	NM_001008656		149771697	149771697	+1	no_errors	ENST00000451292	ensembl	human	known	69_37n	missense	25	47.92	23	SNP	0.003	C
TCP10L	140290	genome.wustl.edu	37	21	33949139	33949139	+	Missense_Mutation	SNP	C	C	G	rs191355375		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr21:33949139C>G	ENST00000300258.3	-	5	706	c.593G>C	c.(592-594)aGa>aCa	p.R198T	TCP10L_ENST00000472557.1_Missense_Mutation_p.R112T|LINC00846_ENST00000334165.4_lincRNA	NM_144659.5	NP_653260.1	Q8TDR4	TCP1L_HUMAN	t-complex 10-like	198					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	protein self-association (GO:0043621)|repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)			breast(1)|central_nervous_system(1)|liver(1)|skin(1)	4						AGGTGTTGCTCTTCTGTCTTG	0.483																																						dbGAP											0													143.0	127.0	132.0					21																	33949139		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF115967	CCDS13616.1	21p22.11	2012-09-20	2012-09-20		ENSG00000242220	ENSG00000242220			11657	protein-coding gene	gene with protein product		608365	"""t-complex 10 (a murine tcp homolog)-like"", ""t-complex 10 (mouse)-like"""			10830953	Standard	NM_144659		Approved	PRED77		Q8TDR4	OTTHUMG00000064901	ENST00000300258.3:c.593G>C	21.37:g.33949139C>G	ENSP00000300258:p.Arg198Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53EW0|Q96LN5	Missense_Mutation	SNP	NULL	p.R198T	ENST00000300258.3	37	c.593	CCDS13616.1	21	.	.	.	.	.	.	.	.	.	.	C	2.383	-0.341694	0.05243	.	.	ENSG00000242220	ENST00000300258	T	0.16897	2.31	0.571	0.571	0.17352	.	.	.	.	.	T	0.11707	0.0285	L	0.36672	1.1	0.09310	N	1	B	0.28291	0.206	B	0.22601	0.04	T	0.25537	-1.0129	8	0.37606	T	0.19	.	.	.	.	.	198	Q8TDR4	TCP1L_HUMAN	T	198	ENSP00000300258:R198T	ENSP00000300258:R198T	R	-	2	0	TCP10L	32871010	0.109000	0.22037	0.004000	0.12327	0.007000	0.05969	0.066000	0.14489	0.569000	0.29329	0.411000	0.27672	AGA	TCP10L	-	NULL	ENSG00000242220		0.483	TCP10L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCP10L	HGNC	protein_coding	OTTHUMT00000139350.1	147	0.00	0	C	NM_144659		33949139	33949139	-1	no_errors	ENST00000300258	ensembl	human	known	69_37n	missense	101	17.89	22	SNP	0.005	G
TCTE1	202500	genome.wustl.edu	37	6	44250263	44250263	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:44250263C>T	ENST00000371505.4	-	4	1002	c.880G>A	c.(880-882)Gac>Aac	p.D294N	TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371503.3_Intron|RP11-444E17.6_ENST00000505802.1_Intron|TCTE1_ENST00000371504.1_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	294										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)			CGTGCCTTGTCATCATCCACC	0.552																																						dbGAP											0													108.0	96.0	100.0					6																	44250263		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.880G>A	6.37:g.44250263C>T	ENSP00000360560:p.Asp294Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DX59|Q8IYS6	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.D294N	ENST00000371505.4	37	c.880	CCDS4910.1	6	.	.	.	.	.	.	.	.	.	.	C	10.61	1.399182	0.25291	.	.	ENSG00000146221	ENST00000371505	T	0.54479	0.57	5.37	4.5	0.54988	.	0.499339	0.24798	N	0.035515	T	0.38401	0.1039	M	0.71581	2.175	0.80722	D	1	B	0.12630	0.006	B	0.10450	0.005	T	0.40251	-0.9573	10	0.41790	T	0.15	-27.3339	14.3939	0.66999	0.0:0.9284:0.0:0.0716	.	294	Q5JU00	TCTE1_HUMAN	N	294	ENSP00000360560:D294N	ENSP00000360560:D294N	D	-	1	0	TCTE1	44358241	0.992000	0.36948	0.678000	0.29963	0.154000	0.21943	2.984000	0.49353	1.416000	0.47057	0.455000	0.32223	GAC	TCTE1	-	NULL	ENSG00000146221		0.552	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCTE1	HGNC	protein_coding	OTTHUMT00000040736.1	58	0.00	0	C	NM_182539		44250263	44250263	-1	no_errors	ENST00000371505	ensembl	human	known	69_37n	missense	50	28.57	20	SNP	0.970	T
TCTN2	79867	genome.wustl.edu	37	12	124156155	124156155	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:124156155G>T	ENST00000303372.5	+	2	312	c.184G>T	c.(184-186)Gag>Tag	p.E62*	TCTN2_ENST00000426174.2_Nonsense_Mutation_p.E62*	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	62					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		GCTGCAGGACGAGGCGGGTAA	0.647																																						dbGAP											0																																										-	-	-	SO:0001587	stop_gained	0			AK056924	CCDS9253.1, CCDS45007.1	12q24.31	2011-04-12	2007-08-20	2007-08-20	ENSG00000168778	ENSG00000168778		"""Tectonic proteins"""	25774	protein-coding gene	gene with protein product	"""Meckel syndrome, type 8"""	613846	"""chromosome 12 open reading frame 38"""	C12orf38		21462283	Standard	NM_024809		Approved	FLJ12975, TECT2, MKS8	uc001ufp.3	Q96GX1	OTTHUMG00000168700	ENST00000303372.5:c.184G>T	12.37:g.124156155G>T	ENSP00000304941:p.Glu62*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7Y8|B3KPW5|Q9H966	Nonsense_Mutation	SNP	pfam_DUF1619	p.E62*	ENST00000303372.5	37	c.184	CCDS9253.1	12	.	.	.	.	.	.	.	.	.	.	G	33	5.289817	0.95546	.	.	ENSG00000168778	ENST00000426174;ENST00000303372	.	.	.	4.35	1.32	0.21799	.	0.691610	0.14303	N	0.328143	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-32.6869	7.9389	0.29946	0.2928:0.0:0.7072:0.0	.	.	.	.	X	62	.	ENSP00000304941:E62X	E	+	1	0	TCTN2	122722108	0.000000	0.05858	0.010000	0.14722	0.942000	0.58702	0.193000	0.17116	0.464000	0.27142	0.650000	0.86243	GAG	TCTN2	-	NULL	ENSG00000168778		0.647	TCTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCTN2	HGNC	protein_coding	OTTHUMT00000400652.1	52	0.00	0	G	NM_024809		124156155	124156155	+1	no_errors	ENST00000303372	ensembl	human	known	69_37n	nonsense	75	15.73	14	SNP	0.002	T
TCTN2	79867	genome.wustl.edu	37	12	124189164	124189164	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:124189164C>T	ENST00000303372.5	+	15	1826	c.1698C>T	c.(1696-1698)atC>atT	p.I566I	RP11-338K17.8_ENST00000538837.1_lincRNA|TCTN2_ENST00000426174.2_Silent_p.I565I	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	566					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		ACCTGAGCATCCGCATCCTCA	0.522																																						dbGAP											0													81.0	64.0	70.0					12																	124189164		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK056924	CCDS9253.1, CCDS45007.1	12q24.31	2011-04-12	2007-08-20	2007-08-20	ENSG00000168778	ENSG00000168778		"""Tectonic proteins"""	25774	protein-coding gene	gene with protein product	"""Meckel syndrome, type 8"""	613846	"""chromosome 12 open reading frame 38"""	C12orf38		21462283	Standard	NM_024809		Approved	FLJ12975, TECT2, MKS8	uc001ufp.3	Q96GX1	OTTHUMG00000168700	ENST00000303372.5:c.1698C>T	12.37:g.124189164C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7Y8|B3KPW5|Q9H966	Silent	SNP	pfam_DUF1619	p.I566	ENST00000303372.5	37	c.1698	CCDS9253.1	12																																																																																			TCTN2	-	NULL	ENSG00000168778		0.522	TCTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCTN2	HGNC	protein_coding	OTTHUMT00000400652.1	52	0.00	0	C	NM_024809		124189164	124189164	+1	no_errors	ENST00000303372	ensembl	human	known	69_37n	silent	45	19.64	11	SNP	0.999	T
TDRD10	126668	genome.wustl.edu	37	1	154516584	154516584	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:154516584G>A	ENST00000368480.3	+	9	734	c.649G>A	c.(649-651)Gag>Aag	p.E217K	TDRD10_ENST00000368482.4_Missense_Mutation_p.E217K|TDRD10_ENST00000479937.1_3'UTR			Q5VZ19	TDR10_HUMAN	tudor domain containing 10	217	Tudor.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			GCACGTCACTGAGGTATGGAC	0.637																																						dbGAP											0													115.0	84.0	94.0					1																	154516584		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL713777	CCDS30878.2, CCDS41406.1	1q21.3	2013-02-12			ENSG00000163239	ENSG00000163239		"""Tudor domain containing"", ""RNA binding motif (RRM) containing"""	25316	protein-coding gene	gene with protein product						12975309	Standard	NM_182499		Approved	DKFZp434M202	uc009wow.3	Q5VZ19	OTTHUMG00000037264	ENST00000368480.3:c.649G>A	1.37:g.154516584G>A	ENSP00000357465:p.Glu217Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A4FU09|B0QZ53|B4DXV4|Q3ZCP1|Q3ZCS7|Q5SXY7|Q6UXV2|Q8TCN3	Missense_Mutation	SNP	pfam_Tudor,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.E217K	ENST00000368480.3	37	c.649	CCDS41406.1	1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.460548	0.43736	.	.	ENSG00000163239	ENST00000368482;ENST00000368480	T;T	0.09073	3.02;3.02	3.18	1.25	0.21368	Maternal tudor protein (1);	0.808932	0.10392	N	0.680263	T	0.03608	0.0103	N	0.17082	0.46	0.22728	N	0.998806	D;D	0.59767	0.986;0.982	P;P	0.58970	0.849;0.765	T	0.37126	-0.9719	10	0.37606	T	0.19	-4.8254	5.243	0.15481	0.2838:0.0:0.7162:0.0	.	217;217	Q5VZ19;Q5VZ19-2	TDR10_HUMAN;.	K	217	ENSP00000357467:E217K;ENSP00000357465:E217K	ENSP00000357465:E217K	E	+	1	0	TDRD10	152783208	0.093000	0.21703	0.062000	0.19696	0.614000	0.37383	0.100000	0.15231	0.089000	0.17243	0.555000	0.69702	GAG	TDRD10	-	pfam_Tudor	ENSG00000163239		0.637	TDRD10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TDRD10	HGNC	protein_coding	OTTHUMT00000090700.2	95	0.00	0	G	NM_182499		154516584	154516584	+1	no_errors	ENST00000368480	ensembl	human	known	69_37n	missense	116	22.67	34	SNP	0.793	A
TDRD12	91646	genome.wustl.edu	37	19	33263720	33263720	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:33263720G>A	ENST00000444215.2	+	9	1247	c.927G>A	c.(925-927)aaG>aaA	p.K309K	TDRD12_ENST00000421545.2_Silent_p.K309K			Q587J7	TDR12_HUMAN	tudor domain containing 12	309					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.K309K(1)		NS(1)|breast(1)|endometrium(3)|lung(2)|prostate(1)|skin(1)	9	Esophageal squamous(110;0.137)					AATCTGAAAAGAAACACCATT	0.254																																						dbGAP											1	Substitution - coding silent(1)	prostate(1)											62.0	53.0	56.0					19																	33263720		692	1566	2258	-	-	-	SO:0001819	synonymous_variant	0			AK023134	CCDS46038.1	19q13.11	2013-01-23				ENSG00000173809		"""Tudor domain containing"""	25044	protein-coding gene	gene with protein product						11441184	Standard	NM_001110822		Approved	ECAT8, FLJ13072	uc002ntq.2	Q587J7		ENST00000444215.2:c.927G>A	19.37:g.33263720G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Tudor,pfam_DNA/RNA_helicase_DEAD/DEAH_N	p.K309	ENST00000444215.2	37	c.927		19																																																																																			TDRD12	-	NULL	ENSG00000173809		0.254	TDRD12-001	KNOWN	basic|appris_principal	protein_coding	TDRD12	HGNC	protein_coding	OTTHUMT00000435933.1	85	0.00	0	G	NM_001015890		33263720	33263720	+1	no_errors	ENST00000444215	ensembl	human	known	69_37n	silent	63	20.25	16	SNP	0.301	A
TDRD5	163589	genome.wustl.edu	37	1	179587753	179587753	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:179587753C>T	ENST00000367614.1	+	5	1210	c.851C>T	c.(850-852)tCa>tTa	p.S284L	TDRD5_ENST00000444136.1_Missense_Mutation_p.S284L|TDRD5_ENST00000294848.8_Missense_Mutation_p.S284L	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	284					DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						ACATTCAAATCAGTTATTGCA	0.333																																						dbGAP											0													60.0	65.0	63.0					1																	179587753		2203	4297	6500	-	-	-	SO:0001583	missense	0			AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"""Tudor domain containing"""	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.851C>T	1.37:g.179587753C>T	ENSP00000356586:p.Ser284Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.S284L	ENST00000367614.1	37	c.851	CCDS1332.1	1	.	.	.	.	.	.	.	.	.	.	C	19.87	3.907647	0.72868	.	.	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136	T;T;T	0.13089	2.62;2.62;2.79	4.77	4.77	0.60923	.	0.184984	0.36066	N	0.002809	T	0.18467	0.0443	L	0.36672	1.1	0.39176	D	0.962698	D;D	0.59767	0.986;0.976	P;P	0.56563	0.801;0.541	T	0.03463	-1.1034	10	0.08837	T	0.75	-20.6151	13.6539	0.62327	0.0:1.0:0.0:0.0	.	284;284	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	L	284	ENSP00000356586:S284L;ENSP00000294848:S284L;ENSP00000406052:S284L	ENSP00000294848:S284L	S	+	2	0	TDRD5	177854376	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.271000	0.43364	2.346000	0.79739	0.563000	0.77884	TCA	TDRD5	-	NULL	ENSG00000162782		0.333	TDRD5-002	KNOWN	basic|CCDS	protein_coding	TDRD5	HGNC	protein_coding	OTTHUMT00000085295.1	75	0.00	0	C	NM_173533		179587753	179587753	+1	no_errors	ENST00000444136	ensembl	human	known	69_37n	missense	86	14.00	14	SNP	1.000	T
TDRD6	221400	genome.wustl.edu	37	6	46659695	46659695	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:46659695C>T	ENST00000316081.6	+	1	3830	c.3830C>T	c.(3829-3831)tCa>tTa	p.S1277L	TDRD6_ENST00000544460.1_Missense_Mutation_p.S1277L	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1277					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GCTACTCTTTCAGAGAGAAAA	0.343																																						dbGAP											0													40.0	46.0	44.0					6																	46659695		2201	4295	6496	-	-	-	SO:0001583	missense	0			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.3830C>T	6.37:g.46659695C>T	ENSP00000346065:p.Ser1277Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.S1277L	ENST00000316081.6	37	c.3830	CCDS34470.1	6	.	.	.	.	.	.	.	.	.	.	C	8.315	0.822940	0.16678	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.15139	2.45;2.45	5.73	1.48	0.22813	.	0.972110	0.08458	N	0.942914	T	0.04048	0.0113	L	0.34521	1.04	0.09310	N	1	B;B	0.18310	0.027;0.016	B;B	0.15484	0.013;0.006	T	0.44636	-0.9315	10	0.25106	T	0.35	-9.4267	7.9697	0.30119	0.0:0.6169:0.0:0.3831	.	1277;1277	F5H5M3;O60522	.;TDRD6_HUMAN	L	1277	ENSP00000443299:S1277L;ENSP00000346065:S1277L	ENSP00000346065:S1277L	S	+	2	0	TDRD6	46767654	0.000000	0.05858	0.099000	0.21106	0.886000	0.51366	-0.011000	0.12721	0.365000	0.24400	0.655000	0.94253	TCA	TDRD6	-	NULL	ENSG00000180113		0.343	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TDRD6	HGNC	protein_coding	OTTHUMT00000040800.1	28	0.00	0	C	XM_166443		46659695	46659695	+1	no_errors	ENST00000316081	ensembl	human	known	69_37n	missense	14	39.13	9	SNP	0.001	T
TEC	7006	genome.wustl.edu	37	4	48152923	48152923	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:48152923G>A	ENST00000381501.3	-	10	986	c.829C>T	c.(829-831)Caa>Taa	p.Q277*	TEC_ENST00000511471.2_5'UTR|Y_RNA_ENST00000365144.1_RNA	NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	277	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell receptor signaling pathway (GO:0050853)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of platelet activation (GO:0010543)|tissue regeneration (GO:0042246)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						AAGCCTGGTTGACTGGAATCC	0.343																																						dbGAP											0													96.0	106.0	103.0					4																	48152923		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			D29767	CCDS3481.1	4p12	2013-02-14			ENSG00000135605	ENSG00000135605		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	11719	protein-coding gene	gene with protein product		600583				7934162	Standard	NM_003215		Approved	PSCTK4	uc003gxz.3	P42680	OTTHUMG00000128623	ENST00000381501.3:c.829C>T	4.37:g.48152923G>A	ENSP00000370912:p.Gln277*	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZKZ6|Q3MIS5	Nonsense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_Znf_Btk_motif,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,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,prints_SH2,prints_Znf_Btk_motif,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_cat_dom	p.Q277*	ENST00000381501.3	37	c.829	CCDS3481.1	4	.	.	.	.	.	.	.	.	.	.	G	37	6.598623	0.97692	.	.	ENSG00000135605	ENST00000381501	.	.	.	5.65	5.65	0.86999	.	0.173476	0.51477	D	0.000091	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	19.7204	0.96139	0.0:0.0:1.0:0.0	.	.	.	.	X	277	.	ENSP00000370912:Q277X	Q	-	1	0	TEC	47847680	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.194000	0.58393	2.662000	0.90505	0.491000	0.48974	CAA	TEC	-	pfam_SH2,smart_SH2,prints_SH2,pfscan_SH2	ENSG00000135605		0.343	TEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEC	HGNC	protein_coding	OTTHUMT00000250492.3	95	0.00	0	G			48152923	48152923	-1	no_errors	ENST00000381501	ensembl	human	known	69_37n	nonsense	56	16.42	11	SNP	1.000	A
TECTA	7007	genome.wustl.edu	37	11	121008252	121008252	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:121008252G>T	ENST00000392793.1	+	11	3335	c.3064G>T	c.(3064-3066)Ggc>Tgc	p.G1022C	TECTA_ENST00000264037.2_Missense_Mutation_p.G1022C			O75443	TECTA_HUMAN	tectorin alpha	1022	TIL 2.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GTGTGATGAGGGCTATGCTCT	0.567																																						dbGAP											0													147.0	118.0	127.0					11																	121008252		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.3064G>T	11.37:g.121008252G>T	ENSP00000376543:p.Gly1022Cys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_Zona_pellucida_Endoglin/CD105,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105	p.G1022C	ENST00000392793.1	37	c.3064	CCDS8434.1	11	.	.	.	.	.	.	.	.	.	.	G	23.3	4.398063	0.83120	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	D;D	0.94723	-3.5;-3.5	4.61	4.61	0.57282	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (2);	0.000000	0.85682	D	0.000000	D	0.97977	0.9334	M	0.93550	3.43	0.58432	D	0.99999	D	0.89917	1.0	D	0.97110	1.0	D	0.99285	1.0897	10	0.87932	D	0	.	17.6501	0.88161	0.0:0.0:1.0:0.0	.	1022	O75443	TECTA_HUMAN	C	1022	ENSP00000376543:G1022C;ENSP00000264037:G1022C	ENSP00000264037:G1022C	G	+	1	0	TECTA	120513462	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.708000	0.84633	2.382000	0.81193	0.591000	0.81541	GGC	TECTA	-	pfam_TIL_dom,superfamily_TIL_dom	ENSG00000109927		0.567	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TECTA	HGNC	protein_coding	OTTHUMT00000313850.1	67	0.00	0	G	NM_005422		121008252	121008252	+1	no_errors	ENST00000264037	ensembl	human	known	69_37n	missense	47	48.35	44	SNP	1.000	T
TECTB	6975	genome.wustl.edu	37	10	114045948	114045948	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:114045948G>A	ENST00000369422.3	+	3	387	c.387G>A	c.(385-387)gtG>gtA	p.V129V		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	129	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		CCTACTTGGTGAACCAGGCTG	0.507																																						dbGAP											0													146.0	121.0	129.0					10																	114045948		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF312827	CCDS7571.1	10q25-q26	2005-06-09			ENSG00000119913	ENSG00000119913			11721	protein-coding gene	gene with protein product		602653				9079715	Standard	NM_058222		Approved		uc001kzr.1	Q96PL2	OTTHUMG00000019056	ENST00000369422.3:c.387G>A	10.37:g.114045948G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VW53	Silent	SNP	pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr	p.V129	ENST00000369422.3	37	c.387	CCDS7571.1	10																																																																																			TECTB	-	pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105	ENSG00000119913		0.507	TECTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TECTB	HGNC	protein_coding	OTTHUMT00000050381.1	102	0.00	0	G	NM_058222		114045948	114045948	+1	no_errors	ENST00000369422	ensembl	human	known	69_37n	silent	62	33.33	31	SNP	0.999	A
TEK	7010	genome.wustl.edu	37	9	27228264	27228264	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:27228264G>A	ENST00000380036.4	+	22	3703	c.3261G>A	c.(3259-3261)caG>caA	p.Q1087Q	TEK_ENST00000406359.4_Silent_p.Q1044Q|TEK_ENST00000519097.1_Silent_p.Q939Q	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	1087	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|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 focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	CATTTGCCCAGATATTGGTGT	0.413																																						dbGAP											0													124.0	123.0	124.0					9																	27228264		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.3261G>A	9.37:g.27228264G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_EGF-like,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,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.Q1087	ENST00000380036.4	37	c.3261	CCDS6519.1	9																																																																																			TEK	-	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	ENSG00000120156		0.413	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TEK	HGNC	protein_coding	OTTHUMT00000051965.3	108	0.00	0	G			27228264	27228264	+1	no_errors	ENST00000380036	ensembl	human	known	69_37n	silent	60	39.60	40	SNP	1.000	A
TEKT3	64518	genome.wustl.edu	37	17	15234430	15234430	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:15234430G>T	ENST00000395930.1	-	3	659	c.473C>A	c.(472-474)tCt>tAt	p.S158Y	TEKT3_ENST00000338696.2_Missense_Mutation_p.S158Y	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	158					cilium morphogenesis (GO:0060271)|regulation of fertilization (GO:0080154)|sperm motility (GO:0030317)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		AATGATTTCAGATTTCCAAAA	0.418																																						dbGAP											0													195.0	177.0	183.0					17																	15234430		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF334676	CCDS11169.1	17p12	2011-05-23			ENSG00000125409	ENSG00000125409			14293	protein-coding gene	gene with protein product		612683				11381029, 14735490	Standard	NM_031898		Approved	FLJ32828	uc002gon.3	Q9BXF9	OTTHUMG00000058965	ENST00000395930.1:c.473C>A	17.37:g.15234430G>T	ENSP00000379263:p.Ser158Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAS7|D3DTT0|Q8N5R5|Q96M48	Missense_Mutation	SNP	pfam_Tektin,prints_Tektin	p.S158Y	ENST00000395930.1	37	c.473	CCDS11169.1	17	.	.	.	.	.	.	.	.	.	.	G	25.5	4.647349	0.87958	.	.	ENSG00000125409	ENST00000395930;ENST00000338696	T;T	0.02837	4.14;4.14	5.61	5.61	0.85477	.	0.097154	0.85682	D	0.000000	T	0.23133	0.0559	M	0.91561	3.22	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.02202	-1.1196	10	0.87932	D	0	-3.4789	20.0086	0.97443	0.0:0.0:1.0:0.0	.	158	Q9BXF9	TEKT3_HUMAN	Y	158	ENSP00000379263:S158Y;ENSP00000343995:S158Y	ENSP00000343995:S158Y	S	-	2	0	TEKT3	15175155	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.420000	0.97426	2.808000	0.96608	0.655000	0.94253	TCT	TEKT3	-	pfam_Tektin	ENSG00000125409		0.418	TEKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEKT3	HGNC	protein_coding	OTTHUMT00000130385.2	238	0.00	0	G	NM_031898		15234430	15234430	-1	no_errors	ENST00000338696	ensembl	human	known	69_37n	missense	168	30.00	72	SNP	1.000	T
TELO2	9894	genome.wustl.edu	37	16	1547069	1547069	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:1547069C>T	ENST00000262319.6	+	4	925	c.646C>T	c.(646-648)Cag>Tag	p.Q216*		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	216					regulation of TOR signaling (GO:0032006)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	protein complex binding (GO:0032403)			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				CTTCGTGTCTCAGGTCCTTGG	0.612																																						dbGAP											0													122.0	87.0	99.0					16																	1547069		2199	4300	6499	-	-	-	SO:0001587	stop_gained	0			AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726			29099	protein-coding gene	gene with protein product		611140	"""TEL2, telomere maintenance 2, homolog (S. cerevisiae)"""			9734811, 11230166, 12670948	Standard	NM_016111		Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.646C>T	16.37:g.1547069C>T	ENSP00000262319:p.Gln216*	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DU73|O75168|Q7LDV4|Q9BR21	Nonsense_Mutation	SNP	pfam_Telomere_length_regulation_dom,superfamily_ARM-type_fold	p.Q216*	ENST00000262319.6	37	c.646	CCDS32363.1	16	.	.	.	.	.	.	.	.	.	.	c	35	5.574665	0.96553	.	.	ENSG00000100726	ENST00000262319	.	.	.	5.05	5.05	0.67936	.	0.120688	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	-10.109	17.1663	0.86817	0.0:1.0:0.0:0.0	.	.	.	.	X	216	.	ENSP00000262319:Q216X	Q	+	1	0	TELO2	1487070	0.998000	0.40836	0.084000	0.20598	0.006000	0.05464	4.564000	0.60830	2.344000	0.79699	0.651000	0.88453	CAG	TELO2	-	NULL	ENSG00000100726		0.612	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TELO2	HGNC	protein_coding	OTTHUMT00000103602.2	68	0.00	0	C	NM_016111		1547069	1547069	+1	no_errors	ENST00000262319	ensembl	human	known	69_37n	nonsense	103	15.57	19	SNP	0.999	T
TELO2	9894	genome.wustl.edu	37	16	1557647	1557647	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:1557647C>T	ENST00000262319.6	+	20	2616	c.2337C>T	c.(2335-2337)ctC>ctT	p.L779L		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	779					regulation of TOR signaling (GO:0032006)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	protein complex binding (GO:0032403)			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				CCGTCCTGCTCAGCCTGCCTG	0.701																																						dbGAP											0													44.0	39.0	41.0					16																	1557647		2197	4298	6495	-	-	-	SO:0001819	synonymous_variant	0			AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726			29099	protein-coding gene	gene with protein product		611140	"""TEL2, telomere maintenance 2, homolog (S. cerevisiae)"""			9734811, 11230166, 12670948	Standard	NM_016111		Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.2337C>T	16.37:g.1557647C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DU73|O75168|Q7LDV4|Q9BR21	Silent	SNP	pfam_Telomere_length_regulation_dom,superfamily_ARM-type_fold	p.L779	ENST00000262319.6	37	c.2337	CCDS32363.1	16																																																																																			TELO2	-	superfamily_ARM-type_fold	ENSG00000100726		0.701	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TELO2	HGNC	protein_coding	OTTHUMT00000103602.2	30	0.00	0	C	NM_016111		1557647	1557647	+1	no_errors	ENST00000262319	ensembl	human	known	69_37n	silent	54	14.29	9	SNP	0.992	T
TESK2	10420	genome.wustl.edu	37	1	45923281	45923281	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:45923281G>A	ENST00000372086.3	-	2	577	c.177C>T	c.(175-177)ttC>ttT	p.F59F	TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000372084.1_Silent_p.F59F|TESK2_ENST00000538496.1_Intron|TESK2_ENST00000341771.6_Silent_p.F59F|TESK2_ENST00000451835.2_Silent_p.F59F	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2	59	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|focal adhesion assembly (GO:0048041)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					TTTCACAGGTGAAATCATCCA	0.448																																						dbGAP											0													113.0	109.0	110.0					1																	45923281		1887	4109	5996	-	-	-	SO:0001819	synonymous_variant	0			AJ132545	CCDS41323.1	1p32	2010-04-27			ENSG00000070759	ENSG00000070759	2.7.12.1		11732	protein-coding gene	gene with protein product		604746				10512679	Standard	NM_007170		Approved		uc001cns.1	Q96S53	OTTHUMG00000007680	ENST00000372086.3:c.177C>T	1.37:g.45923281G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T422|Q5T423|Q8N520|Q9Y3Q6	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.F59	ENST00000372086.3	37	c.177	CCDS41323.1	1																																																																																			TESK2	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000070759		0.448	TESK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TESK2	HGNC	protein_coding	OTTHUMT00000020523.1	95	0.00	0	G	NM_007170		45923281	45923281	-1	no_errors	ENST00000372086	ensembl	human	known	69_37n	silent	54	25.00	18	SNP	1.000	A
TET3	200424	genome.wustl.edu	37	2	74273708	74273708	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:74273708G>C	ENST00000409262.3	+	1	259	c.259G>C	c.(259-261)Gaa>Caa	p.E87Q		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	87					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCGGCTCTATGAAACCTTCAA	0.607																																						dbGAP											0													41.0	44.0	43.0					2																	74273708		1940	4143	6083	-	-	-	SO:0001583	missense	0				CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.259G>C	2.37:g.74273708G>C	ENSP00000386869:p.Glu87Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEI3|Q86Z24|Q8TBM9	Missense_Mutation	SNP	NULL	p.E87Q	ENST00000409262.3	37	c.259	CCDS46339.1	2	.	.	.	.	.	.	.	.	.	.	G	19.99	3.928013	0.73327	.	.	ENSG00000187605	ENST00000305799;ENST00000409262;ENST00000233310	T;T	0.32988	1.43;2.34	5.3	5.3	0.74995	.	.	.	.	.	T	0.45013	0.1321	L	0.27053	0.805	0.52099	D	0.999946	D	0.89917	1.0	D	0.83275	0.996	T	0.43180	-0.9407	9	0.87932	D	0	.	17.8833	0.88846	0.0:0.0:1.0:0.0	.	87	O43151	TET3_HUMAN	Q	129;87;87	ENSP00000307803:E129Q;ENSP00000386869:E87Q	ENSP00000233310:E87Q	E	+	1	0	TET3	74127216	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.023000	0.70848	2.764000	0.94973	0.555000	0.69702	GAA	TET3	-	NULL	ENSG00000187605		0.607	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TET3	HGNC	protein_coding	OTTHUMT00000328141.4	43	0.00	0	G			74273708	74273708	+1	no_errors	ENST00000409262	ensembl	human	known	69_37n	missense	50	18.03	11	SNP	1.000	C
TEX10	54881	genome.wustl.edu	37	9	103091439	103091439	+	Silent	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:103091439C>A	ENST00000374902.4	-	7	1784	c.1608G>T	c.(1606-1608)ctG>ctT	p.L536L	TEX10_ENST00000535814.1_Silent_p.L539L	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	536						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|MLL1 complex (GO:0071339)				NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TACAAGATCTCAGTTCTTCTG	0.313																																						dbGAP											0													96.0	104.0	101.0					9																	103091439		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB060968	CCDS6748.1, CCDS55330.1	9q31.1	2012-05-02	2007-03-13		ENSG00000136891	ENSG00000136891			25988	protein-coding gene	gene with protein product			"""testis expressed gene 10"", ""testis expressed sequence 10"""			12477932	Standard	NM_017746		Approved	FLJ20287, bA208F1.2, Ipi1	uc004bas.3	Q9NXF1	OTTHUMG00000020366	ENST00000374902.4:c.1608G>T	9.37:g.103091439C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DYV2|Q5T722|Q5T723|Q8NCN8|Q8TDY0	Silent	SNP	pfam_IPI1-like_dom,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.L536	ENST00000374902.4	37	c.1608	CCDS6748.1	9																																																																																			TEX10	-	NULL	ENSG00000136891		0.313	TEX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX10	HGNC	protein_coding	OTTHUMT00000053416.1	93	0.00	0	C	NM_017746		103091439	103091439	-1	no_errors	ENST00000374902	ensembl	human	known	69_37n	silent	70	23.08	21	SNP	0.519	A
TEX15	56154	genome.wustl.edu	37	8	30701561	30701561	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:30701561G>A	ENST00000256246.2	-	1	5047	c.4973C>T	c.(4972-4974)tCa>tTa	p.S1658L		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1658					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTGTTCAACTGAACATTCTTG	0.358																																						dbGAP											0													71.0	72.0	71.0					8																	30701561		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.4973C>T	8.37:g.30701561G>A	ENSP00000256246:p.Ser1658Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.S1658L	ENST00000256246.2	37	c.4973	CCDS6080.1	8	.	.	.	.	.	.	.	.	.	.	G	20.2	3.946854	0.73672	.	.	ENSG00000133863	ENST00000256246	T	0.19105	2.17	5.92	5.92	0.95590	.	0.000000	0.49916	D	0.000128	T	0.46658	0.1404	M	0.63843	1.955	0.44234	D	0.997077	D	0.76494	0.999	D	0.72075	0.976	T	0.31475	-0.9942	10	0.87932	D	0	.	19.0795	0.93177	0.0:0.0:1.0:0.0	.	1658	Q9BXT5	TEX15_HUMAN	L	1658	ENSP00000256246:S1658L	ENSP00000256246:S1658L	S	-	2	0	TEX15	30821103	1.000000	0.71417	0.978000	0.43139	0.850000	0.48378	4.583000	0.60964	2.795000	0.96236	0.655000	0.94253	TCA	TEX15	-	NULL	ENSG00000133863		0.358	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1	76	0.00	0	G			30701561	30701561	-1	no_errors	ENST00000256246	ensembl	human	known	69_37n	missense	16	57.89	22	SNP	0.996	A
TEX2	55852	genome.wustl.edu	37	17	62289937	62289937	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:62289937C>T	ENST00000583097.1	-	2	1813	c.1641G>A	c.(1639-1641)ctG>ctA	p.L547L	TEX2_ENST00000584379.1_Silent_p.L547L|TEX2_ENST00000258991.3_Silent_p.L547L			Q8IWB9	TEX2_HUMAN	testis expressed 2	547					signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		GGCTTACCTTCAGTATTTCAG	0.398																																						dbGAP											0													178.0	181.0	180.0					17																	62289937		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"""transmembrane protein 96"""		"""testis expressed sequence 2"""			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.1641G>A	17.37:g.62289937C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6AHZ5|Q8N3L0|Q9C0C5	Silent	SNP	pfam_DUF2404	p.L547	ENST00000583097.1	37	c.1641		17																																																																																			TEX2	-	NULL	ENSG00000136478		0.398	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	TEX2	HGNC	protein_coding	OTTHUMT00000443745.1	166	0.00	0	C	NM_018469		62289937	62289937	-1	no_errors	ENST00000258991	ensembl	human	known	69_37n	silent	243	15.33	44	SNP	0.270	T
TEX2	55852	genome.wustl.edu	37	17	62291115	62291115	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:62291115C>T	ENST00000583097.1	-	2	635	c.463G>A	c.(463-465)Gag>Aag	p.E155K	TEX2_ENST00000584379.1_Missense_Mutation_p.E155K|TEX2_ENST00000258991.3_Missense_Mutation_p.E155K			Q8IWB9	TEX2_HUMAN	testis expressed 2	155					signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		GTTTTCTGCTCAGAAAGGGAT	0.532																																						dbGAP											0													76.0	71.0	73.0					17																	62291115		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"""transmembrane protein 96"""		"""testis expressed sequence 2"""			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.463G>A	17.37:g.62291115C>T	ENSP00000462665:p.Glu155Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6AHZ5|Q8N3L0|Q9C0C5	Missense_Mutation	SNP	pfam_DUF2404	p.E155K	ENST00000583097.1	37	c.463		17	.	.	.	.	.	.	.	.	.	.	C	13.25	2.181163	0.38511	.	.	ENSG00000136478	ENST00000258991	T	0.50001	0.76	5.82	5.82	0.92795	.	0.147304	0.47852	D	0.000209	T	0.32526	0.0832	N	0.14661	0.345	0.42178	D	0.991676	B;B	0.15473	0.013;0.008	B;B	0.14578	0.011;0.005	T	0.10109	-1.0644	10	0.48119	T	0.1	-21.7517	13.3244	0.60450	0.0:0.928:0.0:0.072	.	155;155	Q8IWB9-2;Q8IWB9	.;TEX2_HUMAN	K	155	ENSP00000258991:E155K	ENSP00000258991:E155K	E	-	1	0	TEX2	59644847	0.998000	0.40836	1.000000	0.80357	0.946000	0.59487	3.357000	0.52277	2.757000	0.94681	0.655000	0.94253	GAG	TEX2	-	NULL	ENSG00000136478		0.532	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	TEX2	HGNC	protein_coding	OTTHUMT00000443745.1	42	0.00	0	C	NM_018469		62291115	62291115	-1	no_errors	ENST00000258991	ensembl	human	known	69_37n	missense	70	17.65	15	SNP	0.997	T
TEX26	122046	genome.wustl.edu	37	13	31526900	31526900	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr13:31526900G>T	ENST00000380473.3	+	3	263	c.250G>T	c.(250-252)Gaa>Taa	p.E84*		NM_152325.1	NP_689538.1	Q8N6G2	TEX26_HUMAN	testis expressed 26	84																	ACACTCTAAAGAAGATTTGAT	0.323																																						dbGAP											0													109.0	104.0	106.0					13																	31526900		2203	4297	6500	-	-	-	SO:0001587	stop_gained	0			BC030277	CCDS9339.1	13q12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000175664	ENSG00000175664			28622	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 26"""	C13orf26		12477932	Standard	NM_152325		Approved	MGC40178	uc001uti.3	Q8N6G2	OTTHUMG00000016682	ENST00000380473.3:c.250G>T	13.37:g.31526900G>T	ENSP00000369840:p.Glu84*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	NULL	p.E84*	ENST00000380473.3	37	c.250	CCDS9339.1	13	.	.	.	.	.	.	.	.	.	.	G	22.5	4.302412	0.81136	.	.	ENSG00000175664	ENST00000380473	.	.	.	4.31	4.31	0.51392	.	0.228496	0.30151	N	0.010288	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-12.3949	12.1505	0.54048	0.0:0.0:1.0:0.0	.	.	.	.	X	84	.	ENSP00000369840:E84X	E	+	1	0	C13orf26	30424900	0.966000	0.33281	0.094000	0.20943	0.462000	0.32619	4.239000	0.58694	2.217000	0.71921	0.467000	0.42956	GAA	TEX26	-	NULL	ENSG00000175664		0.323	TEX26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX26	HGNC	protein_coding	OTTHUMT00000044380.2	99	0.00	0	G	NM_152325		31526900	31526900	+1	no_errors	ENST00000380473	ensembl	human	known	69_37n	nonsense	35	52.70	39	SNP	0.343	T
TF	7018	genome.wustl.edu	37	3	133472539	133472539	+	Nonsense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:133472539C>G	ENST00000402696.3	+	3	802	c.317C>G	c.(316-318)tCa>tGa	p.S106*	TFP1_ENST00000460564.1_RNA|TF_ENST00000475382.1_3'UTR|TF_ENST00000264998.3_5'UTR	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	106	Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}.				blood coagulation (GO:0007596)|cellular iron ion homeostasis (GO:0006879)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|retina homeostasis (GO:0001895)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|basal plasma membrane (GO:0009925)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|secretory granule lumen (GO:0034774)|vesicle (GO:0031982)	ferric iron binding (GO:0008199)			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth Subsalicylate(DB01294)|Gallium nitrate(DB05260)|Iron Dextran(DB00893)	TTCTATGGGTCAAAAGAGGGT	0.483																																						dbGAP											0													105.0	93.0	97.0					3																	133472539		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS3080.1	3q21	2012-10-02			ENSG00000091513	ENSG00000091513			11740	protein-coding gene	gene with protein product		190000				6585826	Standard	NM_001063		Approved	PRO1557, PRO2086	uc003epv.2	P02787	OTTHUMG00000150356	ENST00000402696.3:c.317C>G	3.37:g.133472539C>G	ENSP00000385834:p.Ser106*	Somatic		WXS	Illumina GAIIx	Phase_IV	O43890|Q1HBA5|Q9NQB8|Q9UHV0	Nonsense_Mutation	SNP	pfam_Peptidase_S60,smart_Peptidase_S60,pirsf_Transferrin,prints_Peptidase_S60	p.S106*	ENST00000402696.3	37	c.317	CCDS3080.1	3	.	.	.	.	.	.	.	.	.	.	C	19.66	3.870058	0.72065	.	.	ENSG00000091513	ENST00000402696;ENST00000466911	.	.	.	4.73	3.84	0.44239	.	1.032810	0.07653	N	0.932211	.	.	.	.	.	.	0.43018	D	0.994563	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-1.78	13.6001	0.62013	0.1568:0.8432:0.0:0.0	.	.	.	.	X	106;62	.	ENSP00000385834:S106X	S	+	2	0	TF	134955229	0.003000	0.15002	0.002000	0.10522	0.059000	0.15707	1.800000	0.38833	1.336000	0.45506	0.561000	0.74099	TCA	TF	-	pfam_Peptidase_S60,smart_Peptidase_S60,pirsf_Transferrin	ENSG00000091513		0.483	TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TF	HGNC	protein_coding	OTTHUMT00000317775.1	58	0.00	0	C	NM_001063		133472539	133472539	+1	no_errors	ENST00000402696	ensembl	human	known	69_37n	nonsense	65	18.75	15	SNP	0.007	G
TFAP2A	7020	genome.wustl.edu	37	6	10410368	10410368	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:10410368C>T	ENST00000482890.1	-	3	598	c.246G>A	c.(244-246)ctG>ctA	p.L82L	TFAP2A_ENST00000379604.2_Silent_p.L82L|TFAP2A_ENST00000379608.3_Silent_p.L76L|TFAP2A_ENST00000319516.4_Silent_p.L78L|TFAP2A-AS1_ENST00000420777.1_RNA|TFAP2A_ENST00000497266.1_5'UTR|TFAP2A_ENST00000379613.3_Silent_p.L84L			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	82	Gln/Pro-rich (transactivation domain).				anterior neuropore closure (GO:0021506)|basement membrane organization (GO:0071711)|bone morphogenesis (GO:0060349)|cellular response to iron ion (GO:0071281)|cornea development in camera-type eye (GO:0061303)|embryonic body morphogenesis (GO:0010172)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|embryonic pattern specification (GO:0009880)|epidermis morphogenesis (GO:0048730)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|keratinocyte development (GO:0003334)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|oculomotor nerve formation (GO:0021623)|optic cup structural organization (GO:0003409)|optic vesicle morphogenesis (GO:0003404)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell differentiation (GO:0045595)|regulation of neuron differentiation (GO:0045664)|retina layer formation (GO:0010842)|sensory perception of sound (GO:0007605)|sympathetic nervous system development (GO:0048485)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|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 (GO:0000982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				GCAGGGGGTTCAGGCTGTAGG	0.677																																						dbGAP											0													39.0	48.0	45.0					6																	10410368		2203	4297	6500	-	-	-	SO:0001819	synonymous_variant	0			X52611	CCDS4510.1, CCDS34337.1, CCDS43422.1	6p24.3	2013-09-19	2001-11-28		ENSG00000137203	ENSG00000137203			11742	protein-coding gene	gene with protein product		107580	"""transcription factor AP-2 alpha (activating enhancer-binding protein 2 alpha)"""	TFAP2, AP2TF		1916817, 3063603	Standard	NM_001032280		Approved	AP-2	uc003myr.3	P05549	OTTHUMG00000014235	ENST00000482890.1:c.246G>A	6.37:g.10410368C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q13777|Q5TAV5|Q8N1C6	Missense_Mutation	SNP	NULL	p.E37K	ENST00000482890.1	37	c.109	CCDS4510.1	6																																																																																			TFAP2A	-	NULL	ENSG00000137203		0.677	TFAP2A-007	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	TFAP2A	HGNC	protein_coding	OTTHUMT00000353619.2	60	0.00	0	C	NM_003220		10410368	10410368	-1	no_errors	ENST00000488193	ensembl	human	known	69_37n	missense	17	26.09	6	SNP	0.994	T
TFCP2L1	29842	genome.wustl.edu	37	2	122004538	122004538	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:122004538G>A	ENST00000263707.5	-	6	610	c.513C>T	c.(511-513)tgC>tgT	p.C171C		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	171					cell morphogenesis (GO:0000902)|cytoplasm organization (GO:0007028)|determination of adult lifespan (GO:0008340)|epithelial cell maturation (GO:0002070)|female pregnancy (GO:0007565)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of growth (GO:0045927)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|salivary gland development (GO:0007431)|steroid biosynthetic process (GO:0006694)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					CTGTGCTGATGCAGTGTACCT	0.587																																						dbGAP											0													86.0	74.0	78.0					2																	122004538		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF198488	CCDS2134.1	2q14	2008-02-05			ENSG00000115112	ENSG00000115112			17925	protein-coding gene	gene with protein product		609785				10644752, 11073954	Standard	NM_014553		Approved	LBP-9, CRTR1	uc002tmx.3	Q9NZI6	OTTHUMG00000131443	ENST00000263707.5:c.513C>T	2.37:g.122004538G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4ZG43	Silent	SNP	pfam_CP2,superfamily_SAM/pointed	p.C171	ENST00000263707.5	37	c.513	CCDS2134.1	2																																																																																			TFCP2L1	-	pfam_CP2	ENSG00000115112		0.587	TFCP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFCP2L1	HGNC	protein_coding	OTTHUMT00000338539.1	59	0.00	0	G	NM_014553		122004538	122004538	-1	no_errors	ENST00000263707	ensembl	human	known	69_37n	silent	39	45.07	32	SNP	0.895	A
TFDP1	7027	genome.wustl.edu	37	13	114285955	114285955	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr13:114285955G>C	ENST00000375370.5	+	5	416	c.204G>C	c.(202-204)caG>caC	p.Q68H	TFDP1_ENST00000465174.1_3'UTR|TFDP1_ENST00000544902.1_Intron|TFDP1_ENST00000538138.1_Intron	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	68					anoikis (GO:0043276)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|epidermis development (GO:0008544)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA biosynthetic process (GO:2000278)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|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 coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			GTACGCCTCAGAGACCGGCAG	0.577										TSP Lung(29;0.18)																												dbGAP											0													137.0	117.0	123.0					13																	114285955		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC011685	CCDS9538.1	13q34	2008-07-18			ENSG00000198176	ENSG00000198176			11749	protein-coding gene	gene with protein product		189902				8413592, 9027491	Standard	NM_007111		Approved	Dp-1, DRTF1, DP1	uc001vtw.3	Q14186	OTTHUMG00000017388	ENST00000375370.5:c.204G>C	13.37:g.114285955G>C	ENSP00000364519:p.Gln68His	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DLQ9|Q5JSB4|Q8IZL5	Missense_Mutation	SNP	pfam_Transc_factor_DP_C,pfam_E2F_TDP,pirsf_Transcription_factor_DP_subgr	p.Q68H	ENST00000375370.5	37	c.204	CCDS9538.1	13	.	.	.	.	.	.	.	.	.	.	G	20.8	4.042765	0.75732	.	.	ENSG00000198176	ENST00000375370;ENST00000408980;ENST00000453989	T;T;T	0.36520	1.67;1.28;1.25	4.34	4.34	0.51931	.	0.000000	0.85682	D	0.000000	T	0.60983	0.2311	M	0.75777	2.31	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.79784	0.993;0.993;0.993	T	0.67229	-0.5723	10	0.66056	D	0.02	.	17.2402	0.87011	0.0:0.0:1.0:0.0	.	68;68;68	Q5JSB5;Q5JSB6;Q14186	.;.;TFDP1_HUMAN	H	68	ENSP00000364519:Q68H;ENSP00000386145:Q68H;ENSP00000401389:Q68H	ENSP00000364519:Q68H	Q	+	3	2	TFDP1	113333956	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	5.759000	0.68785	2.134000	0.65973	0.313000	0.20887	CAG	TFDP1	-	pirsf_Transcription_factor_DP_subgr	ENSG00000198176		0.577	TFDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFDP1	HGNC	protein_coding	OTTHUMT00000045918.3	87	0.00	0	G	NM_007111		114285955	114285955	+1	no_errors	ENST00000375370	ensembl	human	known	69_37n	missense	89	27.64	34	SNP	1.000	C
TFDP3	51270	genome.wustl.edu	37	X	132351894	132351894	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:132351894C>A	ENST00000310125.4	-	1	482	c.394G>T	c.(394-396)Gaa>Taa	p.E132*		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	132					cellular response to DNA damage stimulus (GO:0006974)|G1/S transition of mitotic cell cycle (GO:0000082)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					CCCACCACTTCCTGGCAGGAA	0.557																																						dbGAP											0													82.0	77.0	79.0					X																	132351894		2199	4300	6499	-	-	-	SO:0001587	stop_gained	0			AF219119	CCDS14636.2	Xq26.2	2009-03-25			ENSG00000183434	ENSG00000183434			24603	protein-coding gene	gene with protein product	"""E2F-like protein"", ""cancer/testis antigen 30"""	300772				12097419	Standard	NM_016521		Approved	HCA661, E2F-like, CT30	uc004exb.1	Q5H9I0	OTTHUMG00000022433	ENST00000310125.4:c.394G>T	X.37:g.132351894C>A	ENSP00000385461:p.Glu132*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6DK49|Q9NZ54	Nonsense_Mutation	SNP	pfam_Transc_factor_DP_C,pfam_E2F_TDP,pirsf_Transcription_factor_DP_subgr	p.E132*	ENST00000310125.4	37	c.394	CCDS14636.2	X	.	.	.	.	.	.	.	.	.	.	c	16.67	3.187503	0.57909	.	.	ENSG00000183434	ENST00000310125	.	.	.	0.226	0.226	0.15353	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	6.186	0.20498	0.0:0.9996:0.0:4.0E-4	.	.	.	.	X	132	.	ENSP00000385461:E132X	E	-	1	0	TFDP3	132179560	1.000000	0.71417	0.083000	0.20561	0.085000	0.17905	5.218000	0.65257	0.283000	0.22279	0.287000	0.19450	GAA	TFDP3	-	pfam_E2F_TDP,pirsf_Transcription_factor_DP_subgr	ENSG00000183434		0.557	TFDP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFDP3	HGNC	protein_coding	OTTHUMT00000058337.1	101	0.00	0	C	NM_016521		132351894	132351894	-1	no_errors	ENST00000310125	ensembl	human	known	69_37n	nonsense	85	23.42	26	SNP	1.000	A
TFIP11	24144	genome.wustl.edu	37	22	26890795	26890795	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:26890795G>C	ENST00000407690.1	-	13	2243	c.1960C>G	c.(1960-1962)Ctt>Gtt	p.L654V	TFIP11_ENST00000405938.1_Missense_Mutation_p.L654V|TFIP11_ENST00000407431.1_Missense_Mutation_p.L654V|TFIP11_ENST00000407148.1_Missense_Mutation_p.L654V	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	654					biomineral tissue development (GO:0031214)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|spliceosomal complex disassembly (GO:0000390)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|proteinaceous extracellular matrix (GO:0005578)|spliceosomal complex (GO:0005681)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	DNA binding (GO:0003677)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						TGCTTTTCAAGAAGTCCCACC	0.483																																						dbGAP											0													107.0	92.0	97.0					22																	26890795		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL050258	CCDS13838.1	22q12.1	2013-01-28			ENSG00000100109	ENSG00000100109		"""G patch domain containing"""	17165	protein-coding gene	gene with protein product		612747				10806191, 11230166	Standard	NM_012143		Approved	TIP39, DKFZP434B194, Spp382	uc003acs.2	Q9UBB9	OTTHUMG00000150883	ENST00000407690.1:c.1960C>G	22.37:g.26890795G>C	ENSP00000384421:p.Leu654Val	Somatic		WXS	Illumina GAIIx	Phase_IV	O95908|Q20WL0|Q5H8V8|Q9UGV7|Q9Y2Q8	Missense_Mutation	SNP	pfam_GCFC_dom,pfam_TIP_N,pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom	p.L654V	ENST00000407690.1	37	c.1960	CCDS13838.1	22	.	.	.	.	.	.	.	.	.	.	G	20.7	4.033856	0.75504	.	.	ENSG00000100109	ENST00000407690;ENST00000407431;ENST00000407148;ENST00000442693;ENST00000405938	T;T;T;T	0.54279	0.58;0.58;0.58;0.58	5.43	5.43	0.79202	GC-rich sequence DNA-binding factor domain (1);	0.062950	0.64402	D	0.000003	T	0.74222	0.3688	M	0.77103	2.36	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.75042	-0.3457	10	0.54805	T	0.06	-31.8279	18.4159	0.90570	0.0:0.0:1.0:0.0	.	654	Q9UBB9	TFP11_HUMAN	V	654;654;654;339;654	ENSP00000384421:L654V;ENSP00000383892:L654V;ENSP00000385861:L654V;ENSP00000384297:L654V	ENSP00000384297:L654V	L	-	1	0	TFIP11	25220795	1.000000	0.71417	0.443000	0.26883	0.998000	0.95712	7.097000	0.76967	2.823000	0.97156	0.650000	0.86243	CTT	TFIP11	-	pfam_GCFC_dom	ENSG00000100109		0.483	TFIP11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TFIP11	HGNC	protein_coding	OTTHUMT00000320750.1	55	0.00	0	G	NM_001008697		26890795	26890795	-1	no_errors	ENST00000405938	ensembl	human	known	69_37n	missense	87	26.89	32	SNP	0.994	C
TFIP11	24144	genome.wustl.edu	37	22	26895343	26895343	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:26895343G>A	ENST00000407690.1	-	9	1339	c.1056C>T	c.(1054-1056)ctC>ctT	p.L352L	TFIP11_ENST00000405938.1_Silent_p.L352L|TFIP11_ENST00000407431.1_Silent_p.L352L|TFIP11_ENST00000407148.1_Silent_p.L352L|TFIP11_ENST00000496523.1_5'Flank	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	352					biomineral tissue development (GO:0031214)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|spliceosomal complex disassembly (GO:0000390)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|proteinaceous extracellular matrix (GO:0005578)|spliceosomal complex (GO:0005681)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	DNA binding (GO:0003677)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						GCTCGTGGAAGAGGTTGACCA	0.597																																						dbGAP											0													100.0	81.0	87.0					22																	26895343		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL050258	CCDS13838.1	22q12.1	2013-01-28			ENSG00000100109	ENSG00000100109		"""G patch domain containing"""	17165	protein-coding gene	gene with protein product		612747				10806191, 11230166	Standard	NM_012143		Approved	TIP39, DKFZP434B194, Spp382	uc003acs.2	Q9UBB9	OTTHUMG00000150883	ENST00000407690.1:c.1056C>T	22.37:g.26895343G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O95908|Q20WL0|Q5H8V8|Q9UGV7|Q9Y2Q8	Silent	SNP	pfam_GCFC_dom,pfam_TIP_N,pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom	p.L352	ENST00000407690.1	37	c.1056	CCDS13838.1	22																																																																																			TFIP11	-	NULL	ENSG00000100109		0.597	TFIP11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TFIP11	HGNC	protein_coding	OTTHUMT00000320750.1	28	0.00	0	G	NM_001008697		26895343	26895343	-1	no_errors	ENST00000405938	ensembl	human	known	69_37n	silent	43	25.86	15	SNP	0.162	A
TFPI	7035	genome.wustl.edu	37	2	188343439	188343439	+	Intron	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:188343439G>C	ENST00000233156.3	-	6	923				TFPI_ENST00000339091.4_Missense_Mutation_p.F240L|TFPI_ENST00000409676.1_Missense_Mutation_p.F240L|AC007319.1_ENST00000412276.1_RNA|AC007319.1_ENST00000453517.1_RNA|TFPI_ENST00000392365.1_Intron	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)						blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)|Dalteparin(DB06779)	ATCCTAGAAAGAACATGGATG	0.368																																						dbGAP											0													122.0	107.0	112.0					2																	188343439		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0				CCDS2294.1, CCDS33349.1	2q32	2008-06-02			ENSG00000003436	ENSG00000003436			11760	protein-coding gene	gene with protein product	"""extrinsic pathway inhibitor"""	152310		LACI		1993173	Standard	XM_005246818		Approved	EPI, TFI, TFPI1	uc002upy.3	P10646	OTTHUMG00000132634	ENST00000233156.3:c.628+5411C>G	2.37:g.188343439G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O95103|Q53TS4	Missense_Mutation	SNP	pirsf_Prot_inhib_I2_TFPI,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.F240L	ENST00000233156.3	37	c.720	CCDS2294.1	2	.	.	.	.	.	.	.	.	.	.	G	13.61	2.288607	0.40494	.	.	ENSG00000003436	ENST00000409676;ENST00000339091	T;T	0.64085	-0.08;-0.08	4.72	1.6	0.23607	.	.	.	.	.	T	0.39489	0.1080	.	.	.	0.09310	N	0.99999	B	0.06786	0.001	B	0.06405	0.002	T	0.19484	-1.0304	8	0.20519	T	0.43	.	3.6141	0.08071	0.096:0.1934:0.5558:0.1548	.	240	P10646-2	.	L	240	ENSP00000386344:F240L;ENSP00000342306:F240L	ENSP00000342306:F240L	F	-	3	2	TFPI	188051684	0.005000	0.15991	0.030000	0.17652	0.964000	0.63967	0.890000	0.28295	-0.027000	0.13873	0.557000	0.71058	TTC	TFPI	-	pirsf_Prot_inhib_I2_TFPI	ENSG00000003436		0.368	TFPI-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TFPI	HGNC	protein_coding	OTTHUMT00000255881.1	120	0.00	0	G	NM_006287		188343439	188343439	-1	no_errors	ENST00000339091	ensembl	human	known	69_37n	missense	91	16.51	18	SNP	0.154	C
TG	7038	genome.wustl.edu	37	8	134030207	134030207	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:134030207G>A	ENST00000220616.4	+	38	6787	c.6747G>A	c.(6745-6747)ttG>ttA	p.L2249L	TG_ENST00000519543.1_Silent_p.L382L|TG_ENST00000522523.1_3'UTR|TG_ENST00000542445.1_Silent_p.L619L|TG_ENST00000377869.1_Silent_p.L2192L	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2249					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CAGAGCCCTTGAACTGGACAG	0.552																																						dbGAP											0													37.0	35.0	36.0					8																	134030207		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.6747G>A	8.37:g.134030207G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	pfam_CarbesteraseB,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1	p.E705K	ENST00000220616.4	37	c.2113	CCDS34944.1	8	.	.	.	.	.	.	.	.	.	.	G	9.933	1.215242	0.22373	.	.	ENSG00000042832	ENST00000519178	.	.	.	5.38	3.43	0.39272	.	.	.	.	.	T	0.56558	0.1993	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53301	-0.8458	4	.	.	.	.	7.8316	0.29347	0.0:0.1675:0.6354:0.1971	.	.	.	.	K	705	.	.	E	+	1	0	TG	134099389	0.745000	0.28261	0.996000	0.52242	0.975000	0.68041	0.525000	0.22956	1.478000	0.48253	0.655000	0.94253	GAA	TG	-	pfam_CarbesteraseB	ENSG00000042832		0.552	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TG	HGNC	protein_coding	OTTHUMT00000379606.1	26	0.00	0	G	NM_003235		134030207	134030207	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000519178	ensembl	human	novel	69_37n	missense	28	26.32	10	SNP	0.980	A
TG	7038	genome.wustl.edu	37	8	134042144	134042144	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:134042144G>T	ENST00000220616.4	+	41	7155	c.7115G>T	c.(7114-7116)gGa>gTa	p.G2372V	TG_ENST00000519543.1_Missense_Mutation_p.G505V|TG_ENST00000542445.1_Missense_Mutation_p.G742V|TG_ENST00000377869.1_Missense_Mutation_p.G2315V	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2372					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CACATCCGAGGATTTGGCGGG	0.652																																						dbGAP											0													48.0	49.0	49.0					8																	134042144		2203	4299	6502	-	-	-	SO:0001583	missense	0			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.7115G>T	8.37:g.134042144G>T	ENSP00000220616:p.Gly2372Val	Somatic		WXS	Illumina GAIIx	Phase_IV	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1	p.G2372V	ENST00000220616.4	37	c.7115	CCDS34944.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.245|0.245	-1.010594|-1.010594	0.02095|0.02095	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543|ENST00000519178;ENST00000518108	T;T;T;T|T;T	0.66638|0.57436	-0.22;-0.22;-0.22;-0.22|0.4;0.4	5.47|5.47	-8.16|-8.16	0.01061|0.01061	Carboxylesterase, type B (1);|.	0.971032|.	0.08486|.	N|.	0.938776|.	T|T	0.16642|0.16642	0.0400|0.0400	N|N	0.02539|0.02539	-0.55|-0.55	0.09310|0.09310	N|N	1|1	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.01281|.	0.0;0.0;0.0|.	T|T	0.12192|0.12192	-1.0557|-1.0557	10|7	0.18710|0.30854	T|T	0.47|0.27	.|.	0.7387|0.7387	0.00970|0.00970	0.3333:0.1099:0.2738:0.283|0.3333:0.1099:0.2738:0.283	.|.	505;742;2372|.	E7EVM0;F5GWW5;P01266|.	.;.;THYG_HUMAN|.	V|S	2315;1178;2372;742;505|827;167	ENSP00000367100:G2315V;ENSP00000220616:G2372V;ENSP00000441693:G742V;ENSP00000430430:G505V|ENSP00000430523:R827S;ENSP00000429761:R167S	ENSP00000220616:G2372V|ENSP00000429761:R167S	G|R	+|+	2|3	0|2	TG|TG	134111326|134111326	0.002000|0.002000	0.14202|0.14202	0.000000|0.000000	0.03702|0.03702	0.035000|0.035000	0.12851|0.12851	-0.006000|-0.006000	0.12833|0.12833	-1.938000|-1.938000	0.01046|0.01046	-1.351000|-1.351000	0.01236|0.01236	GGA|AGG	TG	-	pfam_CarbesteraseB,pirsf_Thyroglobulin	ENSG00000042832		0.652	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TG	HGNC	protein_coding	OTTHUMT00000379606.1	70	0.00	0	G	NM_003235		134042144	134042144	+1	no_errors	ENST00000220616	ensembl	human	known	69_37n	missense	72	30.10	31	SNP	0.000	T
TGFB1I1	7041	genome.wustl.edu	37	16	31487873	31487873	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:31487873C>G	ENST00000394863.3	+	9	1090	c.960C>G	c.(958-960)ttC>ttG	p.F320L	TGFB1I1_ENST00000394858.2_Missense_Mutation_p.F303L|TGFB1I1_ENST00000361773.3_Missense_Mutation_p.F303L|TGFB1I1_ENST00000567607.1_Missense_Mutation_p.F303L	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced transcript 1	320	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				androgen receptor signaling pathway (GO:0030521)|cell adhesion (GO:0007155)|cell fate commitment (GO:0045165)|epithelial cell differentiation (GO:0030855)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|response to heat (GO:0009408)|transcription from RNA polymerase II promoter (GO:0006366)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|I-SMAD binding (GO:0070411)|Roundabout binding (GO:0048495)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			lung(8)|upper_aerodigestive_tract(1)	9						GGGAGCCCTTCGGAGATGAGG	0.642																																						dbGAP											0													52.0	51.0	51.0					16																	31487873		2197	4298	6495	-	-	-	SO:0001583	missense	0			AB007836	CCDS10713.1, CCDS42156.1	16p11	2008-02-05			ENSG00000140682	ENSG00000140682			11767	protein-coding gene	gene with protein product		602353				9422762, 10075738	Standard	NM_015927		Approved	Hic-5, TSC-5, ARA55, HIC-5	uc002ecd.2	O43294	OTTHUMG00000132467	ENST00000394863.3:c.960C>G	16.37:g.31487873C>G	ENSP00000378332:p.Phe320Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8D5|Q9BPW3|Q9Y2V5	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pirsf_Leupaxin,pfscan_Znf_LIM	p.F320L	ENST00000394863.3	37	c.960	CCDS42156.1	16	.	.	.	.	.	.	.	.	.	.	C	23.0	4.357693	0.82243	.	.	ENSG00000140682	ENST00000394863;ENST00000361773;ENST00000394858	T;T;T	0.76839	-1.05;-1.05;-1.05	5.19	1.54	0.23209	Zinc finger, LIM-type (5);	0.055270	0.64402	D	0.000001	T	0.69993	0.3173	N	0.17278	0.47	0.54753	D	0.999987	D	0.54772	0.968	D	0.64687	0.928	T	0.64214	-0.6460	10	0.22706	T	0.39	.	3.3893	0.07283	0.1764:0.4719:0.0:0.3517	.	320	O43294	TGFI1_HUMAN	L	320;303;303	ENSP00000378332:F320L;ENSP00000355117:F303L;ENSP00000378327:F303L	ENSP00000355117:F303L	F	+	3	2	TGFB1I1	31395374	0.761000	0.28439	1.000000	0.80357	0.977000	0.68977	-0.104000	0.10923	0.439000	0.26476	0.591000	0.81541	TTC	TGFB1I1	-	pfam_Znf_LIM,smart_Znf_LIM,pirsf_Leupaxin,pfscan_Znf_LIM	ENSG00000140682		0.642	TGFB1I1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TGFB1I1	HGNC	protein_coding	OTTHUMT00000255630.3	36	0.00	0	C			31487873	31487873	+1	no_errors	ENST00000394863	ensembl	human	known	69_37n	missense	23	23.33	7	SNP	1.000	G
TGFBR1	7046	genome.wustl.edu	37	9	101908834	101908834	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:101908834G>T	ENST00000374994.4	+	7	1315	c.1198G>T	c.(1198-1200)Gac>Tac	p.D400Y	TGFBR1_ENST00000550253.1_Missense_Mutation_p.D331Y|RNA5SP290_ENST00000517133.1_RNA|TGFBR1_ENST00000374990.2_Missense_Mutation_p.D323Y|TGFBR1_ENST00000552516.1_Missense_Mutation_p.D404Y	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	400	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		D -> G (in LDS1). {ECO:0000269|PubMed:15731757}.		activation of MAPKK activity (GO:0000186)|angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|artery morphogenesis (GO:0048844)|blastocyst development (GO:0001824)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen fibril organization (GO:0030199)|embryonic cranial skeleton morphogenesis (GO:0048701)|endothelial cell migration (GO:0043542)|epithelial to mesenchymal transition (GO:0001837)|extracellular structure organization (GO:0043062)|germ cell migration (GO:0008354)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|mesenchymal cell differentiation (GO:0048762)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|parathyroid gland development (GO:0060017)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of protein binding (GO:0043393)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|response to cholesterol (GO:0070723)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|thymus development (GO:0048538)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	endosome (GO:0005768)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				CAAACGTGCTGACATCTATGC	0.388																																						dbGAP											0													283.0	282.0	283.0					9																	101908834		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6738.1, CCDS47998.1	9q22	2014-01-30	2008-07-31		ENSG00000106799	ENSG00000106799			11772	protein-coding gene	gene with protein product	"""activin A receptor type II-like kinase, 53kDa"""	190181	"""transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kD)"", ""multiple self-healing squamous epithelioma"""	MSSE, ESS1		1319842, 8530052, 21358634	Standard	NM_001130916		Approved	ALK-5, ACVRLK4	uc004azc.3	P36897	OTTHUMG00000020353	ENST00000374994.4:c.1198G>T	9.37:g.101908834G>T	ENSP00000364133:p.Asp400Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IR47|Q706C0|Q706C1	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,superfamily_Quinolinate_PRibosylTrfase_C,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.D400Y	ENST00000374994.4	37	c.1198	CCDS6738.1	9	.	.	.	.	.	.	.	.	.	.	G	26.0	4.692818	0.88735	.	.	ENSG00000106799	ENST00000374994;ENST00000540092;ENST00000374990;ENST00000552516;ENST00000550253	D;D;D;D	0.99418	-5.87;-5.87;-5.87;-5.87	5.33	5.33	0.75918	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	0.99849	0.9930	H	0.99966	5.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96210	0.9152	10	0.87932	D	0	.	18.167	0.89731	0.0:0.0:1.0:0.0	.	323;400	P36897-3;P36897	.;TGFR1_HUMAN	Y	400;362;323;404;331	ENSP00000364133:D400Y;ENSP00000364129:D323Y;ENSP00000447297:D404Y;ENSP00000450052:D331Y	ENSP00000364129:D323Y	D	+	1	0	TGFBR1	100948655	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.810000	0.99221	2.651000	0.90000	0.467000	0.42956	GAC	TGFBR1	-	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	ENSG00000106799		0.388	TGFBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBR1	HGNC	protein_coding	OTTHUMT00000053390.3	191	0.00	0	G			101908834	101908834	+1	no_errors	ENST00000374994	ensembl	human	known	69_37n	missense	170	21.30	46	SNP	1.000	T
TGM1	7051	genome.wustl.edu	37	14	24731556	24731556	+	Start_Codon_SNP	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:24731556C>T	ENST00000206765.6	-	2	126	c.3G>A	c.(1-3)atG>atA	p.M1I	TGM1_ENST00000544573.1_5'UTR	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	1	Membrane anchorage region.				cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|organ morphogenesis (GO:0009887)|peptide cross-linking (GO:0018149)	cell-cell adherens junction (GO:0005913)|cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|intrinsic component of membrane (GO:0031224)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	GCCCATCCATCATGCCTGTTA	0.617																																						dbGAP											0													45.0	37.0	40.0					14																	24731556		2203	4300	6503	-	-	-	SO:0001582	initiator_codon_variant	0			D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	2.3.2.13	"""Transglutaminases"""	11777	protein-coding gene	gene with protein product	"""K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase"""	190195	"""transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)"""	ICR2		11390390	Standard	NM_000359		Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.3G>A	14.37:g.24731556C>T	ENSP00000206765:p.Met1Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DWR7|Q197M4	Missense_Mutation	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.M1I	ENST00000206765.6	37	c.3	CCDS9622.1	14	.	.	.	.	.	.	.	.	.	.	C	4.571	0.106029	0.08780	.	.	ENSG00000092295	ENST00000206765	T	0.79141	-1.24	4.54	2.64	0.31445	.	4.548970	0.00465	N	0.000119	T	0.70404	0.3220	.	.	.	0.21782	N	0.999542	B	0.06786	0.001	B	0.04013	0.001	T	0.57254	-0.7843	9	0.87932	D	0	0.075	6.5204	0.22272	0.0:0.7676:0.0:0.2324	.	1	P22735	TGM1_HUMAN	I	1	ENSP00000206765:M1I	ENSP00000206765:M1I	M	-	3	0	TGM1	23801396	0.011000	0.17503	0.447000	0.26932	0.460000	0.32559	0.227000	0.17795	1.115000	0.41800	0.561000	0.74099	ATG	TGM1	-	NULL	ENSG00000092295		0.617	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM1	HGNC	protein_coding	OTTHUMT00000073160.6	9	0.00	0	C	NM_000359	Missense_Mutation	24731556	24731556	-1	no_errors	ENST00000206765	ensembl	human	known	69_37n	missense	18	21.74	5	SNP	0.170	T
TGM2	7052	genome.wustl.edu	37	20	36760783	36760783	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:36760783C>G	ENST00000361475.2	-	11	1908	c.1735G>C	c.(1735-1737)Gag>Cag	p.E579Q	TGM2_ENST00000536701.1_Missense_Mutation_p.E498Q|TGM2_ENST00000536724.1_Missense_Mutation_p.E519Q	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	579					apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|branching involved in salivary gland morphogenesis (GO:0060445)|isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein homooligomerization (GO:0051260)|salivary gland cavitation (GO:0060662)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	AGGTCCCTCTCAGCCAGCAGG	0.597																																						dbGAP											0													122.0	122.0	122.0					20																	36760783		2203	4300	6503	-	-	-	SO:0001583	missense	0			M98478	CCDS13302.1	20q12	2013-05-02	2013-05-02		ENSG00000198959	ENSG00000198959	2.3.2.13	"""Transglutaminases"""	11778	protein-coding gene	gene with protein product	"""C polypeptide, protein-glutamine-gamma-glutamyltransferase"""	190196	"""transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7912692, 11390390	Standard	NM_004613		Approved	TGC	uc002xhr.3	P21980	OTTHUMG00000032437	ENST00000361475.2:c.1735G>C	20.37:g.36760783C>G	ENSP00000355330:p.Glu579Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P5V9|Q16436|Q6B838|Q9BTN7|Q9UH35	Missense_Mutation	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.E579Q	ENST00000361475.2	37	c.1735	CCDS13302.1	20	.	.	.	.	.	.	.	.	.	.	C	9.317	1.056963	0.19907	.	.	ENSG00000198959	ENST00000361475;ENST00000536701;ENST00000536724	T;T;T	0.29655	1.56;1.56;1.56	4.63	2.6	0.31112	Transglutaminase, C-terminal (1);Immunoglobulin-like fold (1);	0.364021	0.26776	N	0.022541	T	0.20373	0.0490	L	0.52905	1.665	0.24599	N	0.993788	B;B;B;B	0.32781	0.373;0.384;0.256;0.158	B;B;B;B	0.25884	0.064;0.041;0.029;0.025	T	0.26985	-1.0087	10	0.05620	T	0.96	-26.4026	9.3184	0.37948	0.0:0.6501:0.2714:0.0786	.	519;498;519;579	F5H6P0;B4DIT7;B4DTN7;P21980	.;.;.;TGM2_HUMAN	Q	579;498;519	ENSP00000355330:E579Q;ENSP00000444701:E498Q;ENSP00000437479:E519Q	ENSP00000355330:E579Q	E	-	1	0	TGM2	36194197	0.089000	0.21612	0.853000	0.33588	0.895000	0.52256	0.494000	0.22467	0.453000	0.26858	0.555000	0.69702	GAG	TGM2	-	superfamily_Transglutaminase_C	ENSG00000198959		0.597	TGM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM2	HGNC	protein_coding	OTTHUMT00000079151.2	58	0.00	0	C	NM_198951		36760783	36760783	-1	no_errors	ENST00000361475	ensembl	human	known	69_37n	missense	64	18.99	15	SNP	0.804	G
TGM2	7052	genome.wustl.edu	37	20	36770540	36770540	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:36770540C>T	ENST00000361475.2	-	7	1094	c.921G>A	c.(919-921)caG>caA	p.Q307Q	TGM2_ENST00000536701.1_Silent_p.Q226Q|TGM2_ENST00000536724.1_Silent_p.Q247Q	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	307					apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|branching involved in salivary gland morphogenesis (GO:0060445)|isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein homooligomerization (GO:0051260)|salivary gland cavitation (GO:0060662)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	GGTTGCTGTTCTGGTCATGGG	0.592																																						dbGAP											0													271.0	214.0	233.0					20																	36770540		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M98478	CCDS13302.1	20q12	2013-05-02	2013-05-02		ENSG00000198959	ENSG00000198959	2.3.2.13	"""Transglutaminases"""	11778	protein-coding gene	gene with protein product	"""C polypeptide, protein-glutamine-gamma-glutamyltransferase"""	190196	"""transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7912692, 11390390	Standard	NM_004613		Approved	TGC	uc002xhr.3	P21980	OTTHUMG00000032437	ENST00000361475.2:c.921G>A	20.37:g.36770540C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	E1P5V9|Q16436|Q6B838|Q9BTN7|Q9UH35	Silent	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.Q307	ENST00000361475.2	37	c.921	CCDS13302.1	20																																																																																			TGM2	-	pfam_Transglutaminase-like,smart_Transglutaminase-like	ENSG00000198959		0.592	TGM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM2	HGNC	protein_coding	OTTHUMT00000079151.2	157	0.00	0	C	NM_198951		36770540	36770540	-1	no_errors	ENST00000361475	ensembl	human	known	69_37n	silent	201	18.95	47	SNP	1.000	T
TGM2	7052	genome.wustl.edu	37	20	36789841	36789841	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:36789841G>A	ENST00000361475.2	-	2	344	c.171C>T	c.(169-171)ctC>ctT	p.L57L	TGM2_ENST00000536701.1_Silent_p.L57L|TGM2_ENST00000536724.1_Intron	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	57					apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|branching involved in salivary gland morphogenesis (GO:0060445)|isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein homooligomerization (GO:0051260)|salivary gland cavitation (GO:0060662)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	CACTGAAGGTGAGACTGTCTA	0.637																																						dbGAP											0													74.0	55.0	61.0					20																	36789841		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M98478	CCDS13302.1	20q12	2013-05-02	2013-05-02		ENSG00000198959	ENSG00000198959	2.3.2.13	"""Transglutaminases"""	11778	protein-coding gene	gene with protein product	"""C polypeptide, protein-glutamine-gamma-glutamyltransferase"""	190196	"""transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7912692, 11390390	Standard	NM_004613		Approved	TGC	uc002xhr.3	P21980	OTTHUMG00000032437	ENST00000361475.2:c.171C>T	20.37:g.36789841G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	E1P5V9|Q16436|Q6B838|Q9BTN7|Q9UH35	Silent	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.L57	ENST00000361475.2	37	c.171	CCDS13302.1	20																																																																																			TGM2	-	pfam_Transglutaminase_N,superfamily_Ig_E-set	ENSG00000198959		0.637	TGM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM2	HGNC	protein_coding	OTTHUMT00000079151.2	36	0.00	0	G	NM_198951		36789841	36789841	-1	no_errors	ENST00000361475	ensembl	human	known	69_37n	silent	42	12.50	6	SNP	0.906	A
TGM4	7047	genome.wustl.edu	37	3	44952809	44952809	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:44952809C>T	ENST00000296125.4	+	13	1892	c.1824C>T	c.(1822-1824)atC>atT	p.I608I		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	608					mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	GCAATTGTATCTTCAAGAATA	0.512																																						dbGAP											0													189.0	171.0	177.0					3																	44952809		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"""Transglutaminases"""	11780	protein-coding gene	gene with protein product		600585	"""transglutaminase 4 (prostate)"""			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.1824C>T	3.37:g.44952809C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q16707|Q96QN4	Silent	SNP	pfam_Transglutaminase_N,pfam_Transglutaminase_C,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.I608	ENST00000296125.4	37	c.1824	CCDS2723.1	3																																																																																			TGM4	-	pfam_Transglutaminase_C,superfamily_Transglutaminase_C	ENSG00000163810		0.512	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM4	HGNC	protein_coding	OTTHUMT00000256755.2	125	0.00	0	C	NM_003241		44952809	44952809	+1	no_errors	ENST00000296125	ensembl	human	known	69_37n	silent	151	14.20	25	SNP	0.115	T
TGM4	7047	genome.wustl.edu	37	3	44955191	44955191	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:44955191C>G	ENST00000296125.4	+	14	2097	c.2029C>G	c.(2029-2031)Cag>Gag	p.Q677E		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	677					mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	GATTAATGCTCAGAAGATTGT	0.393											OREG0015520	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													140.0	139.0	140.0					3																	44955191		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"""Transglutaminases"""	11780	protein-coding gene	gene with protein product		600585	"""transglutaminase 4 (prostate)"""			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.2029C>G	3.37:g.44955191C>G	ENSP00000296125:p.Gln677Glu	Somatic	927	WXS	Illumina GAIIx	Phase_IV	Q16707|Q96QN4	Missense_Mutation	SNP	pfam_Transglutaminase_N,pfam_Transglutaminase_C,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.Q677E	ENST00000296125.4	37	c.2029	CCDS2723.1	3	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.061550	0.00386	.	.	ENSG00000163810	ENST00000296125	T	0.66460	-0.21	2.6	1.69	0.24217	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.147201	0.27219	N	0.020370	T	0.26557	0.0649	N	0.00583	-1.355	0.23401	N	0.99775	B	0.14012	0.009	B	0.10450	0.005	T	0.38023	-0.9680	10	0.02654	T	1	.	10.8484	0.46757	0.0:0.2274:0.7726:0.0	.	677	P49221	TGM4_HUMAN	E	677	ENSP00000296125:Q677E	ENSP00000296125:Q677E	Q	+	1	0	TGM4	44930195	0.997000	0.39634	0.084000	0.20598	0.427000	0.31564	3.218000	0.51192	0.355000	0.24131	0.591000	0.81541	CAG	TGM4	-	pfam_Transglutaminase_C,superfamily_Transglutaminase_C	ENSG00000163810		0.393	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM4	HGNC	protein_coding	OTTHUMT00000256755.2	102	0.00	0	C	NM_003241		44955191	44955191	+1	no_errors	ENST00000296125	ensembl	human	known	69_37n	missense	97	11.82	13	SNP	0.921	G
TGM7	116179	genome.wustl.edu	37	15	43577046	43577046	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:43577046C>T	ENST00000452443.2	-	7	974	c.970G>A	c.(970-972)Gag>Aag	p.E324K		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	324					peptide cross-linking (GO:0018149)		metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	GACAGCATCTCGGCATTTCGG	0.483																																						dbGAP											0													270.0	220.0	237.0					15																	43577046		2202	4299	6501	-	-	-	SO:0001583	missense	0			AF363393	CCDS32213.1	15q15.2	2004-07-01				ENSG00000159495		"""Transglutaminases"""	30790	protein-coding gene	gene with protein product	"""transglutaminase Z"""	606776				11390390	Standard	NM_052955		Approved	TGMZ	uc001zrf.1	Q96PF1		ENST00000452443.2:c.970G>A	15.37:g.43577046C>T	ENSP00000389466:p.Glu324Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Transglutaminase_N,pfam_Transglutaminase_C,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.E324K	ENST00000452443.2	37	c.970	CCDS32213.1	15	.	.	.	.	.	.	.	.	.	.	C	17.76	3.468131	0.63625	.	.	ENSG00000159495	ENST00000452443	T	0.50813	0.73	5.75	5.75	0.90469	Transglutaminase-like (2);	0.283189	0.34110	N	0.004255	T	0.25344	0.0616	N	0.21545	0.675	0.39237	D	0.96379	P	0.42123	0.771	B	0.32149	0.141	T	0.18053	-1.0349	10	0.07644	T	0.81	-21.5399	10.8061	0.46518	0.0:0.915:0.0:0.085	.	324	Q96PF1	TGM7_HUMAN	K	324	ENSP00000389466:E324K	ENSP00000389466:E324K	E	-	1	0	TGM7	41364338	0.868000	0.29978	1.000000	0.80357	0.960000	0.62799	2.391000	0.44424	2.725000	0.93324	0.655000	0.94253	GAG	TGM7	-	pfam_Transglutaminase-like,smart_Transglutaminase-like	ENSG00000159495		0.483	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM7	HGNC	protein_coding	OTTHUMT00000432489.1	131	0.76	1	C	NM_052955		43577046	43577046	-1	no_errors	ENST00000452443	ensembl	human	known	69_37n	missense	143	19.66	35	SNP	1.000	T
TGS1	96764	genome.wustl.edu	37	8	56698332	56698332	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:56698332C>T	ENST00000260129.5	+	3	698	c.221C>T	c.(220-222)tCa>tTa	p.S74L		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	74					7-methylguanosine cap hypermethylation (GO:0036261)|7-methylguanosine RNA capping (GO:0009452)|cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|regulation of transcription, DNA-templated (GO:0006355)|ribonucleoprotein complex biogenesis (GO:0022613)|ribonucleoprotein complex import into nucleus (GO:0071167)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)	RNA trimethylguanosine synthase activity (GO:0071164)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			ACTGCAGAATCACATGACAGC	0.423																																					Esophageal Squamous(34;275 823 4842 34837 48447)	dbGAP											0													147.0	133.0	137.0					8																	56698332		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY028423	CCDS34894.1	8q11	2010-06-25	2010-06-25	2006-11-27	ENSG00000137574	ENSG00000137574	2.1.1.-		17843	protein-coding gene	gene with protein product		606461	"""nuclear receptor coactivator 6 interacting protein"", ""trimethylguanosine synthase homolog (S. cerevisiae)"""	NCOA6IP		11517327, 11983179, 19307714	Standard	NM_024831		Approved	PIMT	uc003xsj.4	Q96RS0	OTTHUMG00000164294	ENST00000260129.5:c.221C>T	8.37:g.56698332C>T	ENSP00000260129:p.Ser74Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJQ5|Q5GH23|Q8TDG9|Q96QU3|Q9H5V3	Missense_Mutation	SNP	pfam_RNA_cap_Gua-N2-MeTrfase,pfam_RNA_methylase_dom,pfam_tRNA_Trfase_Trm5/Tyw2	p.S74L	ENST00000260129.5	37	c.221	CCDS34894.1	8	.	.	.	.	.	.	.	.	.	.	C	13.44	2.239061	0.39598	.	.	ENSG00000137574	ENST00000260129	T	0.19250	2.16	5.8	4.0	0.46444	.	0.928287	0.09079	N	0.851585	T	0.26919	0.0659	M	0.68317	2.08	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.23726	-1.0180	10	0.37606	T	0.19	-2.4996	12.4993	0.55946	0.0:0.8647:0.0:0.1353	.	74	Q96RS0	TGS1_HUMAN	L	74	ENSP00000260129:S74L	ENSP00000260129:S74L	S	+	2	0	TGS1	56860886	0.002000	0.14202	0.001000	0.08648	0.012000	0.07955	1.423000	0.34837	0.784000	0.33661	0.655000	0.94253	TCA	TGS1	-	NULL	ENSG00000137574		0.423	TGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGS1	HGNC	protein_coding	OTTHUMT00000378152.1	100	0.99	1	C	NM_024831		56698332	56698332	+1	no_errors	ENST00000260129	ensembl	human	known	69_37n	missense	76	20.83	20	SNP	0.008	T
TGS1	96764	genome.wustl.edu	37	8	56699571	56699571	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:56699571G>A	ENST00000260129.5	+	4	1591	c.1114G>A	c.(1114-1116)Gag>Aag	p.E372K		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	372					7-methylguanosine cap hypermethylation (GO:0036261)|7-methylguanosine RNA capping (GO:0009452)|cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|regulation of transcription, DNA-templated (GO:0006355)|ribonucleoprotein complex biogenesis (GO:0022613)|ribonucleoprotein complex import into nucleus (GO:0071167)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)	RNA trimethylguanosine synthase activity (GO:0071164)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			AGGAACCAATGAGGAAAGCAA	0.438																																					Esophageal Squamous(34;275 823 4842 34837 48447)	dbGAP											0													66.0	64.0	65.0					8																	56699571		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY028423	CCDS34894.1	8q11	2010-06-25	2010-06-25	2006-11-27	ENSG00000137574	ENSG00000137574	2.1.1.-		17843	protein-coding gene	gene with protein product		606461	"""nuclear receptor coactivator 6 interacting protein"", ""trimethylguanosine synthase homolog (S. cerevisiae)"""	NCOA6IP		11517327, 11983179, 19307714	Standard	NM_024831		Approved	PIMT	uc003xsj.4	Q96RS0	OTTHUMG00000164294	ENST00000260129.5:c.1114G>A	8.37:g.56699571G>A	ENSP00000260129:p.Glu372Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJQ5|Q5GH23|Q8TDG9|Q96QU3|Q9H5V3	Missense_Mutation	SNP	pfam_RNA_cap_Gua-N2-MeTrfase,pfam_RNA_methylase_dom,pfam_tRNA_Trfase_Trm5/Tyw2	p.E372K	ENST00000260129.5	37	c.1114	CCDS34894.1	8	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.091543	0.00034	.	.	ENSG00000137574	ENST00000260129	T	0.16743	2.32	0.235	0.235	0.15431	.	0.362567	0.30159	N	0.010263	T	0.03305	0.0096	N	0.00801	-1.175	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.44452	-0.9327	9	0.02654	T	1	-8.8459	.	.	.	.	372;372	B2RBJ7;Q96RS0	.;TGS1_HUMAN	K	372	ENSP00000260129:E372K	ENSP00000260129:E372K	E	+	1	0	TGS1	56862125	0.973000	0.33851	0.013000	0.15412	0.020000	0.10135	-0.261000	0.08694	0.308000	0.22923	0.313000	0.20887	GAG	TGS1	-	NULL	ENSG00000137574		0.438	TGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGS1	HGNC	protein_coding	OTTHUMT00000378152.1	41	0.00	0	G	NM_024831		56699571	56699571	+1	no_errors	ENST00000260129	ensembl	human	known	69_37n	missense	38	20.83	10	SNP	0.234	A
THADA	63892	genome.wustl.edu	37	2	43787492	43787492	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:43787492C>T	ENST00000405006.4	-	16	2695	c.2344G>A	c.(2344-2346)Gat>Aat	p.D782N	THADA_ENST00000404790.1_Missense_Mutation_p.D782N|THADA_ENST00000415080.2_Missense_Mutation_p.D492N|THADA_ENST00000405975.2_Missense_Mutation_p.D782N|THADA_ENST00000330266.7_Missense_Mutation_p.D492N|THADA_ENST00000402360.2_Missense_Mutation_p.D782N	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	782										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				ACATCAATATCATGACTCAGC	0.284																																						dbGAP											0													61.0	57.0	58.0					2																	43787492		1796	4063	5859	-	-	-	SO:0001583	missense	0			AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.2344G>A	2.37:g.43787492C>T	ENSP00000385995:p.Asp782Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold	p.D782N	ENST00000405006.4	37	c.2344	CCDS46268.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.14|16.14	3.038187|3.038187	0.54896|0.54896	.|.	.|.	ENSG00000115970|ENSG00000115970	ENST00000330266;ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006;ENST00000402360;ENST00000404790|ENST00000407351	T;T;T;T;T;T|.	0.65732|.	-0.14;-0.14;-0.14;-0.14;-0.17;-0.17|.	6.07|6.07	6.07|6.07	0.98685|0.98685	Armadillo-type fold (1);|.	0.251852|.	0.39985|.	N|.	0.001216|.	T|T	0.68485|0.68485	0.3006|0.3006	L|L	0.44542|0.44542	1.39|1.39	0.42668|0.42668	D|D	0.993504|0.993504	D;P;P;B;P|.	0.59767|.	0.986;0.873;0.799;0.083;0.799|.	P;P;B;B;B|.	0.53954|.	0.738;0.544;0.366;0.008;0.343|.	T|T	0.62723|0.62723	-0.6794|-0.6794	10|5	0.27785|.	T|.	0.31|.	.|.	18.8399|18.8399	0.92180|0.92180	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	783;782;782;492;782|.	B6ZDQ0;Q8IY32;Q6YHU6-5;C9JJB1;Q6YHU6|.	.;.;.;.;THADA_HUMAN|.	N|I	492;782;783;492;782;782;782|95	ENSP00000331105:D492N;ENSP00000386088:D782N;ENSP00000416048:D492N;ENSP00000385995:D782N;ENSP00000385441:D782N;ENSP00000384266:D782N|.	ENSP00000331105:D492N|.	D|M	-|-	1|3	0|0	THADA|THADA	43640996|43640996	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	3.362000|3.362000	0.52314|0.52314	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	GAT|ATG	THADA	-	superfamily_ARM-type_fold	ENSG00000115970		0.284	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	THADA	HGNC	protein_coding	OTTHUMT00000326070.3	84	0.00	0	C	NM_022065		43787492	43787492	-1	no_errors	ENST00000405006	ensembl	human	known	69_37n	missense	95	20.17	24	SNP	1.000	T
THADA	63892	genome.wustl.edu	37	2	43819177	43819177	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:43819177C>T	ENST00000405006.4	-	3	436	c.85G>A	c.(85-87)Gat>Aat	p.D29N	THADA_ENST00000404790.1_Missense_Mutation_p.D29N|THADA_ENST00000415080.2_5'UTR|THADA_ENST00000405975.2_Missense_Mutation_p.D29N|THADA_ENST00000403856.1_Missense_Mutation_p.D29N|THADA_ENST00000402360.2_Missense_Mutation_p.D29N	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	29										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CCTTCCACATCAGCAAAAGCT	0.303																																						dbGAP											0													44.0	39.0	41.0					2																	43819177		1815	4059	5874	-	-	-	SO:0001583	missense	0			AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.85G>A	2.37:g.43819177C>T	ENSP00000385995:p.Asp29Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold	p.D29N	ENST00000405006.4	37	c.85	CCDS46268.1	2	.	.	.	.	.	.	.	.	.	.	C	21.6	4.171450	0.78452	.	.	ENSG00000115970	ENST00000405975;ENST00000356975;ENST00000405006;ENST00000402360;ENST00000404790;ENST00000403856	T;T;T;T;T	0.38887	2.63;2.63;1.19;1.19;1.11	5.04	5.04	0.67666	.	0.107611	0.64402	D	0.000013	T	0.56688	0.2002	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.998	D;D;D;P	0.69479	0.964;0.913;0.936;0.82	T	0.57585	-0.7786	10	0.62326	D	0.03	-3.5127	10.5195	0.44910	0.0:0.9042:0.0:0.0958	.	29;29;29;29	B5MC89;Q8IY32;Q6YHU6-5;Q6YHU6	.;.;.;THADA_HUMAN	N	29	ENSP00000386088:D29N;ENSP00000385995:D29N;ENSP00000385441:D29N;ENSP00000384266:D29N;ENSP00000385469:D29N	ENSP00000349464:D29N	D	-	1	0	THADA	43672681	1.000000	0.71417	0.996000	0.52242	0.923000	0.55619	3.016000	0.49607	2.622000	0.88805	0.591000	0.81541	GAT	THADA	-	NULL	ENSG00000115970		0.303	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	THADA	HGNC	protein_coding	OTTHUMT00000326070.3	67	0.00	0	C	NM_022065		43819177	43819177	-1	no_errors	ENST00000405006	ensembl	human	known	69_37n	missense	70	14.63	12	SNP	1.000	T
THAP9	79725	genome.wustl.edu	37	4	83828937	83828937	+	Splice_Site	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:83828937G>A	ENST00000302236.5	+	4	631		c.e4-1		LIN54_ENST00000505905.1_5'Flank	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9						DNA integration (GO:0015074)|DNA recombination (GO:0006310)|transposition, DNA-mediated (GO:0006313)		metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transferase activity (GO:0016740)|transposase activity (GO:0004803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				TATTTTAACAGATTTTAAGTG	0.308																																						dbGAP											0													36.0	39.0	38.0					4																	83828937		2191	4290	6481	-	-	-	SO:0001630	splice_region_variant	0			AK091412	CCDS3598.1	4q21.3	2013-01-25			ENSG00000168152	ENSG00000168152		"""THAP (C2CH-type zinc finger) domain containing"""	23192	protein-coding gene	gene with protein product		612537				12575992	Standard	NM_024672		Approved	FLJ34093	uc003hnt.2	Q9H5L6	OTTHUMG00000130291	ENST00000302236.5:c.581-1G>A	4.37:g.83828937G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KRE2|Q59AC9	Splice_Site	SNP	-	e4-1	ENST00000302236.5	37	c.581-1	CCDS3598.1	4	.	.	.	.	.	.	.	.	.	.	G	16.17	3.048172	0.55110	.	.	ENSG00000168152	ENST00000302236;ENST00000536314	.	.	.	3.95	3.95	0.45737	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8151	0.63287	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	THAP9	84047961	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	3.359000	0.52292	2.480000	0.83734	0.655000	0.94253	.	THAP9	-	-	ENSG00000168152		0.308	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP9	HGNC	protein_coding	OTTHUMT00000252633.1	87	0.00	0	G	NM_024672	Intron	83828937	83828937	+1	no_errors	ENST00000302236	ensembl	human	known	69_37n	splice_site	37	41.27	26	SNP	1.000	A
THAP9	79725	genome.wustl.edu	37	4	83839313	83839313	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:83839313G>C	ENST00000302236.5	+	5	1999	c.1948G>C	c.(1948-1950)Gaa>Caa	p.E650Q	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	650					DNA integration (GO:0015074)|DNA recombination (GO:0006310)|transposition, DNA-mediated (GO:0006313)		metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transferase activity (GO:0016740)|transposase activity (GO:0004803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				ATTTCAAGATGAAGTTTTTCT	0.398																																						dbGAP											0													60.0	62.0	61.0					4																	83839313		2202	4299	6501	-	-	-	SO:0001583	missense	0			AK091412	CCDS3598.1	4q21.3	2013-01-25			ENSG00000168152	ENSG00000168152		"""THAP (C2CH-type zinc finger) domain containing"""	23192	protein-coding gene	gene with protein product		612537				12575992	Standard	NM_024672		Approved	FLJ34093	uc003hnt.2	Q9H5L6	OTTHUMG00000130291	ENST00000302236.5:c.1948G>C	4.37:g.83839313G>C	ENSP00000305533:p.Glu650Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KRE2|Q59AC9	Missense_Mutation	SNP	pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH	p.E650Q	ENST00000302236.5	37	c.1948	CCDS3598.1	4	.	.	.	.	.	.	.	.	.	.	G	0.097	-1.158712	0.01686	.	.	ENSG00000168152	ENST00000302236;ENST00000536314	D	0.90324	-2.65	3.87	2.14	0.27477	.	0.584743	0.14852	N	0.294660	T	0.80909	0.4714	N	0.22421	0.69	0.24703	N	0.99325	B	0.27498	0.18	B	0.27715	0.082	T	0.65340	-0.6192	10	0.15499	T	0.54	-6.723	7.8515	0.29457	0.201:0.0:0.799:0.0	.	650	Q9H5L6	THAP9_HUMAN	Q	650	ENSP00000305533:E650Q	ENSP00000305533:E650Q	E	+	1	0	THAP9	84058337	0.705000	0.27846	0.473000	0.27253	0.045000	0.14185	1.190000	0.32126	0.608000	0.30000	0.655000	0.94253	GAA	THAP9	-	NULL	ENSG00000168152		0.398	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP9	HGNC	protein_coding	OTTHUMT00000252633.1	39	0.00	0	G	NM_024672		83839313	83839313	+1	no_errors	ENST00000302236	ensembl	human	known	69_37n	missense	31	16.22	6	SNP	0.227	C
THBS2	7058	genome.wustl.edu	37	6	169626313	169626313	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:169626313G>T	ENST00000366787.3	-	17	2749	c.2500C>A	c.(2500-2502)Cac>Aac	p.H834N	THBS2_ENST00000488355.1_5'Flank|XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	834					cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TTGTCACAGTGATCCCCCACA	0.587																																					Esophageal Squamous(91;219 1934 18562 44706)	dbGAP											0													117.0	104.0	108.0					6																	169626313		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.2500C>A	6.37:g.169626313G>T	ENSP00000355751:p.His834Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,superfamily_ConA-like_lec_gl,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C	p.H834N	ENST00000366787.3	37	c.2500	CCDS34574.1	6	.	.	.	.	.	.	.	.	.	.	G	15.79	2.936291	0.52972	.	.	ENSG00000186340	ENST00000366787;ENST00000392099	D	0.98192	-4.78	4.81	4.81	0.61882	.	0.163676	0.28736	U	0.014304	D	0.94272	0.8160	L	0.27053	0.805	0.49582	D	0.9998	B	0.27416	0.178	B	0.32465	0.146	D	0.92562	0.6059	10	0.27082	T	0.32	-69.9907	18.2353	0.89947	0.0:0.0:1.0:0.0	.	834	P35442	TSP2_HUMAN	N	834;92	ENSP00000355751:H834N	ENSP00000355751:H834N	H	-	1	0	THBS2	169368238	1.000000	0.71417	0.982000	0.44146	0.984000	0.73092	9.166000	0.94766	2.362000	0.80069	0.579000	0.79373	CAC	THBS2	-	pfam_Thrombospondin_3-like_rpt	ENSG00000186340		0.587	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS2	HGNC	protein_coding	OTTHUMT00000105439.1	96	0.00	0	G	NM_003247		169626313	169626313	-1	no_errors	ENST00000366787	ensembl	human	known	69_37n	missense	55	36.05	31	SNP	1.000	T
THBS2	7058	genome.wustl.edu	37	6	169648908	169648908	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:169648908G>A	ENST00000366787.3	-	4	462	c.213C>T	c.(211-213)ctC>ctT	p.L71L		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	71	Heparin-binding. {ECO:0000255}.|Laminin G-like.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TGATCTTGCTGAGGTCATCTG	0.632																																					Esophageal Squamous(91;219 1934 18562 44706)	dbGAP											0													142.0	120.0	127.0					6																	169648908		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.213C>T	6.37:g.169648908G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8N1|A7E232|Q5RI52	Silent	SNP	pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,superfamily_ConA-like_lec_gl,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C	p.L71	ENST00000366787.3	37	c.213	CCDS34574.1	6																																																																																			THBS2	-	superfamily_ConA-like_lec_gl,smart_Laminin_G	ENSG00000186340		0.632	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS2	HGNC	protein_coding	OTTHUMT00000105439.1	92	0.00	0	G	NM_003247		169648908	169648908	-1	no_errors	ENST00000366787	ensembl	human	known	69_37n	silent	66	24.14	21	SNP	0.000	A
THBS3	7059	genome.wustl.edu	37	1	155174872	155174872	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:155174872C>G	ENST00000368378.3	-	3	542	c.522G>C	c.(520-522)caG>caC	p.Q174H	THBS3_ENST00000541990.1_5'UTR|RP11-263K19.4_ENST00000422665.1_RNA|THBS3_ENST00000457183.2_Intron|THBS3_ENST00000486260.1_5'UTR|RP11-263K19.4_ENST00000430312.1_RNA|RP11-263K19.4_ENST00000453136.1_RNA	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	174	Laminin G-like.				bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.Q174Q(1)		breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	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)			AATACGCCTTCTGTCCAGTCC	0.577																																						dbGAP											1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)											44.0	43.0	43.0					1																	155174872		2203	4300	6503	-	-	-	SO:0001583	missense	0			L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.522G>C	1.37:g.155174872C>G	ENSP00000357362:p.Gln174His	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AVR8|B4DQ20|Q8WV34	Missense_Mutation	SNP	pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.Q174H	ENST00000368378.3	37	c.522	CCDS1099.1	1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.431451	0.43122	.	.	ENSG00000169231	ENST00000368378	D	0.82344	-1.6	5.56	4.64	0.57946	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.062052	0.64402	D	0.000003	T	0.51873	0.1700	N	0.12746	0.255	0.80722	D	1	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.13407	0.009;0.009;0.009	T	0.55347	-0.8155	10	0.42905	T	0.14	-15.7351	7.5714	0.27909	0.0:0.7424:0.1671:0.0905	.	174;174;174	Q53FK6;Q2HIZ0;P49746	.;.;TSP3_HUMAN	H	174	ENSP00000357362:Q174H	ENSP00000357362:Q174H	Q	-	3	2	THBS3	153441496	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	1.109000	0.31135	1.460000	0.47911	0.579000	0.79373	CAG	THBS3	-	superfamily_ConA-like_lec_gl,smart_Laminin_G	ENSG00000169231		0.577	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS3	HGNC	protein_coding	OTTHUMT00000086856.1	70	0.00	0	C	NM_007112		155174872	155174872	-1	no_errors	ENST00000368378	ensembl	human	known	69_37n	missense	80	14.89	14	SNP	1.000	G
THBS3	7059	genome.wustl.edu	37	1	155176168	155176168	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:155176168G>C	ENST00000368378.3	-	2	129	c.109C>G	c.(109-111)Cgg>Ggg	p.R37G	THBS3_ENST00000541990.1_5'UTR|RP11-263K19.4_ENST00000422665.1_RNA|THBS3_ENST00000457183.2_Missense_Mutation_p.R37G|MTX1_ENST00000609421.1_5'Flank|THBS3_ENST00000486260.1_5'UTR|RP11-263K19.4_ENST00000430312.1_RNA|RP11-263K19.4_ENST00000453136.1_RNA|MTX1_ENST00000316721.4_5'Flank|MTX1_ENST00000368376.3_5'Flank	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	37	Laminin G-like.				bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	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)			ACCATCTGCCGAGACTCGCCC	0.577																																						dbGAP											0													86.0	75.0	78.0					1																	155176168		2203	4300	6503	-	-	-	SO:0001583	missense	0			L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.109C>G	1.37:g.155176168G>C	ENSP00000357362:p.Arg37Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AVR8|B4DQ20|Q8WV34	Missense_Mutation	SNP	pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.R37G	ENST00000368378.3	37	c.109	CCDS1099.1	1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.670361	0.47677	.	.	ENSG00000169231	ENST00000368378;ENST00000457183;ENST00000428962	D;D;T	0.84442	-1.62;-1.85;-1.41	5.63	3.7	0.42460	Laminin G, thrombospondin-type, N-terminal (1);	0.062480	0.64402	D	0.000005	T	0.73814	0.3635	L	0.50333	1.59	0.22366	N	0.999169	B;P;P;P	0.46621	0.451;0.708;0.577;0.881	B;B;B;B	0.43274	0.088;0.16;0.235;0.414	T	0.68078	-0.5504	10	0.87932	D	0	-21.7983	12.9658	0.58483	0.0:0.0:0.6962:0.3038	.	37;37;37;37	B4DQ20;Q53FK6;Q2HIZ0;P49746	.;.;.;TSP3_HUMAN	G	37	ENSP00000357362:R37G;ENSP00000392207:R37G;ENSP00000404040:R37G	ENSP00000357362:R37G	R	-	1	2	THBS3	153442792	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	2.059000	0.41384	0.792000	0.33850	-0.310000	0.09108	CGG	THBS3	-	smart_Laminin_G	ENSG00000169231		0.577	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS3	HGNC	protein_coding	OTTHUMT00000086856.1	43	0.00	0	G	NM_007112		155176168	155176168	-1	no_errors	ENST00000368378	ensembl	human	known	69_37n	missense	32	44.83	26	SNP	1.000	C
THBS4	7060	genome.wustl.edu	37	5	79335996	79335996	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:79335996C>G	ENST00000350881.2	+	2	375	c.185C>G	c.(184-186)tCc>tGc	p.S62C	THBS4_ENST00000511733.1_5'UTR	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	62	Laminin G-like.				behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		TATGTGATTTCCACCTTCAAG	0.473																																						dbGAP											0													73.0	73.0	73.0					5																	79335996		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.185C>G	5.37:g.79335996C>G	ENSP00000339730:p.Ser62Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R909|Q86TG2	Missense_Mutation	SNP	pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.S62C	ENST00000350881.2	37	c.185	CCDS4049.1	5	.	.	.	.	.	.	.	.	.	.	C	17.15	3.315296	0.60524	.	.	ENSG00000113296	ENST00000350881	T	0.02140	4.43	5.31	2.51	0.30379	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.448445	0.25613	N	0.029463	T	0.03434	0.0099	M	0.65498	2.005	0.80722	D	1	P	0.45348	0.856	B	0.40101	0.319	T	0.47898	-0.9081	10	0.87932	D	0	-2.532	7.8209	0.29286	0.0:0.715:0.1336:0.1515	.	62	P35443	TSP4_HUMAN	C	62	ENSP00000339730:S62C	ENSP00000339730:S62C	S	+	2	0	THBS4	79371752	0.882000	0.30256	0.219000	0.23793	0.978000	0.69477	2.651000	0.46674	0.218000	0.20820	0.446000	0.29264	TCC	THBS4	-	superfamily_ConA-like_lec_gl,smart_Laminin_G	ENSG00000113296		0.473	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS4	HGNC	protein_coding	OTTHUMT00000226977.1	59	0.00	0	C			79335996	79335996	+1	no_errors	ENST00000350881	ensembl	human	known	69_37n	missense	43	28.33	17	SNP	0.754	G
THEMIS2	9473	genome.wustl.edu	37	1	28208594	28208594	+	Silent	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:28208594G>T	ENST00000373921.3	+	4	763	c.759G>T	c.(757-759)ctG>ctT	p.L253L	THEMIS2_ENST00000328928.7_Silent_p.L253L|THEMIS2_ENST00000373925.1_Intron|THEMIS2_ENST00000373927.3_Intron	NM_001105556.1	NP_001099026.1	Q5TEJ8	THMS2_HUMAN	thymocyte selection associated family member 2	253	CABIT 2.				cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											GCGAGGTCCTGGCCTGGGAAG	0.627																																						dbGAP											0													55.0	58.0	57.0					1																	28208594		2065	4208	6273	-	-	-	SO:0001819	synonymous_variant	0			AF044896	CCDS30653.1, CCDS30654.1, CCDS41290.1, CCDS65461.1	1p35.2	2012-07-10	2012-07-10	2012-07-10	ENSG00000130775	ENSG00000130775			16839	protein-coding gene	gene with protein product	"""induced by contact to basement membrane 1"""		"""chromosome 1 open reading frame 38"""	C1orf38		16219472	Standard	XM_005246041		Approved	ICB-1, Icb-1	uc001bpc.4	Q5TEJ8	OTTHUMG00000003735	ENST00000373921.3:c.759G>T	1.37:g.28208594G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RTZ3|B4DZT9|B4DZY3|O60560|Q5TEJ1|Q5TEJ9|Q5TEK1|Q68DP4|Q9BYB6|Q9NS90	Silent	SNP	NULL	p.L253	ENST00000373921.3	37	c.759	CCDS41290.1	1																																																																																			THEMIS2	-	NULL	ENSG00000130775		0.627	THEMIS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	THEMIS2	HGNC	protein_coding	OTTHUMT00000011148.1	21	0.00	0	G	NM_004848		28208594	28208594	+1	no_errors	ENST00000373921	ensembl	human	known	69_37n	silent	21	27.59	8	SNP	0.971	T
THEMIS2	9473	genome.wustl.edu	37	1	28209287	28209287	+	Silent	SNP	A	A	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:28209287A>C	ENST00000373921.3	+	4	1456	c.1452A>C	c.(1450-1452)ccA>ccC	p.P484P	THEMIS2_ENST00000328928.7_Silent_p.P355P|THEMIS2_ENST00000373925.1_Intron|THEMIS2_ENST00000373927.3_Intron	NM_001105556.1	NP_001099026.1	Q5TEJ8	THMS2_HUMAN	thymocyte selection associated family member 2	484	CABIT 2.				cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											TCACAGAGCCATTCTTGGTGG	0.607																																						dbGAP											0													98.0	98.0	98.0					1																	28209287		2087	4207	6294	-	-	-	SO:0001819	synonymous_variant	0			AF044896	CCDS30653.1, CCDS30654.1, CCDS41290.1, CCDS65461.1	1p35.2	2012-07-10	2012-07-10	2012-07-10	ENSG00000130775	ENSG00000130775			16839	protein-coding gene	gene with protein product	"""induced by contact to basement membrane 1"""		"""chromosome 1 open reading frame 38"""	C1orf38		16219472	Standard	XM_005246041		Approved	ICB-1, Icb-1	uc001bpc.4	Q5TEJ8	OTTHUMG00000003735	ENST00000373921.3:c.1452A>C	1.37:g.28209287A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RTZ3|B4DZT9|B4DZY3|O60560|Q5TEJ1|Q5TEJ9|Q5TEK1|Q68DP4|Q9BYB6|Q9NS90	Missense_Mutation	SNP	NULL	p.H232P	ENST00000373921.3	37	c.695	CCDS41290.1	1	.	.	.	.	.	.	.	.	.	.	A	9.084	0.999999	0.19121	.	.	ENSG00000130775	ENST00000456990	.	.	.	4.98	0.814	0.18756	.	.	.	.	.	T	0.42966	0.1226	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.20042	-1.0287	4	.	.	.	-22.6019	2.4117	0.04426	0.1343:0.5233:0.1261:0.2163	.	.	.	.	P	232	.	.	H	+	2	0	C1orf38	28081874	0.217000	0.23597	0.994000	0.49952	0.899000	0.52679	-0.246000	0.08878	-0.017000	0.14103	-0.310000	0.09108	CAT	THEMIS2	-	NULL	ENSG00000130775		0.607	THEMIS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	THEMIS2	HGNC	protein_coding	OTTHUMT00000011148.1	53	0.00	0	A	NM_004848		28209287	28209287	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000456990	ensembl	human	known	69_37n	missense	35	30.00	15	SNP	0.999	C
THOC1	9984	genome.wustl.edu	37	18	216572	216572	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr18:216572G>A	ENST00000261600.6	-	19	1523	c.1516C>T	c.(1516-1518)Cac>Tac	p.H506Y		NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN	THO complex 1	506					apoptotic process (GO:0006915)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of isotype switching to IgA isotypes (GO:0048297)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|regulation of DNA recombination (GO:0000018)|regulation of DNA-templated transcription, elongation (GO:0032784)|replication fork processing (GO:0031297)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TGGAAGAAGTGAGGGCTTCTC	0.398																																						dbGAP											0													158.0	158.0	158.0					18																	216572		1855	4097	5952	-	-	-	SO:0001583	missense	0			AK055354	CCDS45820.1	18p11.32	2013-02-11			ENSG00000079134	ENSG00000079134		"""THO complex subunits"""	19070	protein-coding gene	gene with protein product		606930				11979277	Standard	NM_005131		Approved	P84, HPR1	uc002kkj.4	Q96FV9		ENST00000261600.6:c.1516C>T	18.37:g.216572G>A	ENSP00000261600:p.His506Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBP6|Q15219|Q64I72|Q64I73	Missense_Mutation	SNP	pfam_THO_THOC1,pfam_Death,superfamily_DEATH-like,smart_Death,pfscan_Death	p.H506Y	ENST00000261600.6	37	c.1516	CCDS45820.1	18	.	.	.	.	.	.	.	.	.	.	G	27.6	4.844162	0.91197	.	.	ENSG00000079134	ENST00000261600	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.84115	0.5401	M	0.83384	2.64	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.83935	0.0308	9	0.51188	T	0.08	-16.8125	20.1837	0.98210	0.0:0.0:1.0:0.0	.	506	Q96FV9	THOC1_HUMAN	Y	506	.	ENSP00000261600:H506Y	H	-	1	0	THOC1	206572	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.411000	0.97342	2.852000	0.98041	0.637000	0.83480	CAC	THOC1	-	NULL	ENSG00000079134		0.398	THOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THOC1	HGNC	protein_coding	OTTHUMT00000440348.5	128	0.00	0	G	NM_005131		216572	216572	-1	no_errors	ENST00000261600	ensembl	human	known	69_37n	missense	45	31.82	21	SNP	1.000	A
THOP1	7064	genome.wustl.edu	37	19	2799707	2799707	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:2799707G>C	ENST00000307741.6	+	5	710	c.507G>C	c.(505-507)aaG>aaC	p.K169N	THOP1_ENST00000586677.1_Missense_Mutation_p.K48N	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	169					intracellular signal transduction (GO:0035556)|peptide metabolic process (GO:0006518)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				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)		GCATCAAGAAGAAGCTGAGCC	0.617																																						dbGAP											0													135.0	99.0	111.0					19																	2799707		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12095.1	19p13.3	2008-02-05				ENSG00000172009	3.4.24.15		11793	protein-coding gene	gene with protein product		601117				9790774	Standard	NM_003249		Approved		uc002lwj.3	P52888		ENST00000307741.6:c.507G>C	19.37:g.2799707G>C	ENSP00000304467:p.Lys169Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KSE2|Q9UCB3	Missense_Mutation	SNP	pfam_Pept_M3A_M3B	p.K169N	ENST00000307741.6	37	c.507	CCDS12095.1	19	.	.	.	.	.	.	.	.	.	.	G	13.25	2.179994	0.38511	.	.	ENSG00000172009	ENST00000307741	T	0.08370	3.1	4.62	4.62	0.57501	Neurolysin/Thimet oligopeptidase, domain 2 (1);	0.101072	0.64402	D	0.000004	T	0.11623	0.0283	M	0.75777	2.31	0.80722	D	1	B;B	0.27656	0.184;0.184	B;B	0.27796	0.083;0.083	T	0.03287	-1.1052	10	0.66056	D	0.02	-60.6459	7.2737	0.26271	0.1921:0.0:0.8079:0.0	.	48;169	B4DU96;P52888	.;THOP1_HUMAN	N	169	ENSP00000304467:K169N	ENSP00000304467:K169N	K	+	3	2	THOP1	2750707	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	2.959000	0.49153	2.114000	0.64651	0.555000	0.69702	AAG	THOP1	-	NULL	ENSG00000172009		0.617	THOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THOP1	HGNC	protein_coding	OTTHUMT00000451587.2	29	0.00	0	G			2799707	2799707	+1	no_errors	ENST00000307741	ensembl	human	known	69_37n	missense	31	27.91	12	SNP	1.000	C
THSD4	79875	genome.wustl.edu	37	15	72030190	72030190	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:72030190G>A	ENST00000355327.3	+	11	1884	c.1750G>A	c.(1750-1752)Gaa>Aaa	p.E584K	THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000357769.4_Missense_Mutation_p.E224K|THSD4_ENST00000261862.6_Missense_Mutation_p.E584K			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	584					elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GTTCACCTCAGAATCGGCACA	0.607																																						dbGAP											0													140.0	175.0	163.0					15																	72030190		2066	4196	6262	-	-	-	SO:0001583	missense	0			AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.1750G>A	15.37:g.72030190G>A	ENSP00000347484:p.Glu584Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt	p.E584K	ENST00000355327.3	37	c.1750	CCDS10238.2	15	.	.	.	.	.	.	.	.	.	.	G	11.74	1.728261	0.30593	.	.	ENSG00000187720	ENST00000355327;ENST00000261862;ENST00000357769	T;T;T	0.61392	0.11;0.11;0.38	5.31	5.31	0.75309	.	.	.	.	.	T	0.39989	0.1099	N	0.19112	0.55	0.09310	N	1	B;B;B	0.26809	0.16;0.091;0.008	B;B;B	0.23275	0.045;0.016;0.004	T	0.10870	-1.0611	9	0.07325	T	0.83	.	14.4736	0.67533	0.0:0.0:1.0:0.0	.	224;224;584	B4E1J6;B4DR13;Q6ZMP0	.;.;THSD4_HUMAN	K	584;584;224	ENSP00000347484:E584K;ENSP00000261862:E584K;ENSP00000350413:E224K	ENSP00000261862:E584K	E	+	1	0	THSD4	69817244	0.960000	0.32886	0.009000	0.14445	0.002000	0.02628	3.825000	0.55730	2.473000	0.83533	0.650000	0.86243	GAA	THSD4	-	NULL	ENSG00000187720		0.607	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	THSD4	HGNC	protein_coding	OTTHUMT00000257253.2	138	0.72	1	G	NM_024817		72030190	72030190	+1	no_errors	ENST00000261862	ensembl	human	known	69_37n	missense	122	17.57	26	SNP	0.045	A
THSD7A	221981	genome.wustl.edu	37	7	11450849	11450849	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:11450849C>T	ENST00000423059.4	-	19	4034	c.3783G>A	c.(3781-3783)ctG>ctA	p.L1261L	AC004538.3_ENST00000445839.1_RNA|AC004160.4_ENST00000425837.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1261	TSP type-1 12. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CACAATATTTCAGGTCAACTG	0.428										HNSCC(18;0.044)																												dbGAP											0													171.0	162.0	165.0					7																	11450849		2031	4178	6209	-	-	-	SO:0001819	synonymous_variant	0				CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.3783G>A	7.37:g.11450849C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.L1261	ENST00000423059.4	37	c.3783	CCDS47543.1	7																																																																																			THSD7A	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt	ENSG00000005108		0.428	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THSD7A	HGNC	protein_coding	OTTHUMT00000325944.4	173	0.00	0	C	XM_928187.2		11450849	11450849	-1	no_errors	ENST00000423059	ensembl	human	known	69_37n	silent	163	20.39	42	SNP	1.000	T
THSD7B	80731	genome.wustl.edu	37	2	137814778	137814778	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:137814778G>T	ENST00000409968.1	+	3	1106	c.928G>T	c.(928-930)Gat>Tat	p.D310Y	THSD7B_ENST00000413152.2_Missense_Mutation_p.D279Y|THSD7B_ENST00000272643.3_Missense_Mutation_p.D310Y|THSD7B_ENST00000543459.1_Missense_Mutation_p.D169Y			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	310						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)		TACAAGAAGTGATGGACAAAA	0.348																																						dbGAP											0													26.0	26.0	26.0					2																	137814778		1864	4100	5964	-	-	-	SO:0001583	missense	0					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.928G>T	2.37:g.137814778G>T	ENSP00000387145:p.Asp310Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.D310Y	ENST00000409968.1	37	c.928		2	.	.	.	.	.	.	.	.	.	.	G	20.2	3.942588	0.73672	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152;ENST00000543459	T;T;T;T	0.27720	2.23;2.11;1.73;1.65	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.52419	0.1733	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.45469	-0.9259	10	0.36615	T	0.2	.	12.5816	0.56393	0.0772:0.0:0.9228:0.0	.	310;279	Q9C0I4;C9JKN6	THS7B_HUMAN;.	Y	310;310;279;169	ENSP00000387145:D310Y;ENSP00000272643:D310Y;ENSP00000413841:D279Y;ENSP00000443370:D169Y	ENSP00000272643:D310Y	D	+	1	0	THSD7B	137531248	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.718000	0.84743	2.717000	0.92951	0.579000	0.79373	GAT	THSD7B	-	NULL	ENSG00000144229		0.348	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	THSD7B	HGNC	protein_coding	OTTHUMT00000331769.2	17	0.00	0	G	XM_046570.9		137814778	137814778	+1	no_errors	ENST00000272643	ensembl	human	known	69_37n	missense	23	28.12	9	SNP	1.000	T
TIAM2	26230	genome.wustl.edu	37	6	155561807	155561807	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:155561807C>T	ENST00000461783.3	+	18	4585	c.3312C>T	c.(3310-3312)atC>atT	p.I1104I	TIAM2_ENST00000528391.2_Silent_p.I440I|TIAM2_ENST00000456877.2_Silent_p.I416I|TIAM2_ENST00000529824.2_Silent_p.I1104I|TIAM2_ENST00000360366.4_Silent_p.I1128I|TIAM2_ENST00000456144.1_Silent_p.I1104I|TIAM2_ENST00000318981.5_Silent_p.I1104I|TIAM2_ENST00000275246.7_Silent_p.I29I|TIAM2_ENST00000367174.2_Silent_p.I480I			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1104	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GCAAAGTCATCCAGGAGCTTG	0.567																																						dbGAP											0													53.0	52.0	52.0					6																	155561807		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.3312C>T	6.37:g.155561807C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,superfamily_HR1_rho-bd,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain	p.I1104	ENST00000461783.3	37	c.3312	CCDS34558.1	6																																																																																			TIAM2	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000146426		0.567	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	TIAM2	HGNC	protein_coding	OTTHUMT00000387980.2	30	0.00	0	C	NM_012454		155561807	155561807	+1	no_errors	ENST00000456144	ensembl	human	known	69_37n	silent	29	30.95	13	SNP	1.000	T
TIAM2	26230	genome.wustl.edu	37	6	155577920	155577920	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:155577920C>A	ENST00000461783.3	+	29	6044	c.4771C>A	c.(4771-4773)Cag>Aag	p.Q1591K	TIAM2_ENST00000528391.2_Missense_Mutation_p.Q935K|TIAM2_ENST00000456877.2_Missense_Mutation_p.Q903K|TIAM2_ENST00000529824.2_Missense_Mutation_p.Q1620K|TIAM2_ENST00000360366.4_Missense_Mutation_p.Q1615K|TIAM2_ENST00000456144.1_Missense_Mutation_p.Q1620K|TIAM2_ENST00000318981.5_Missense_Mutation_p.Q1591K|TIAM2_ENST00000275246.7_Missense_Mutation_p.Q516K|TIAM2_ENST00000367174.2_Missense_Mutation_p.Q967K|RP11-477D19.2_ENST00000435295.1_RNA			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1591					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CATCGAAATTCAGTTCCAGAG	0.552																																						dbGAP											0													59.0	62.0	61.0					6																	155577920		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.4771C>A	6.37:g.155577920C>A	ENSP00000437188:p.Gln1591Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,superfamily_HR1_rho-bd,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain	p.Q1620K	ENST00000461783.3	37	c.4858	CCDS34558.1	6	.	.	.	.	.	.	.	.	.	.	C	24.7	4.555722	0.86231	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000456144;ENST00000318981;ENST00000367174;ENST00000360366;ENST00000529824;ENST00000456877;ENST00000528391;ENST00000275246	T;T;T;T;T;T;T;T;T	0.09630	3.45;3.36;3.45;3.3;3.44;3.36;3.27;3.28;2.96	5.95	5.08	0.68730	.	0.177637	0.51477	D	0.000087	T	0.14485	0.0350	M	0.63843	1.955	0.39171	D	0.962587	D;D;D;D	0.65815	0.991;0.995;0.995;0.991	P;D;D;P	0.66351	0.783;0.943;0.943;0.877	T	0.09574	-1.0668	10	0.09590	T	0.72	.	15.7214	0.77713	0.0:0.8645:0.1355:0.0	.	935;1620;1615;1591	E9PKT1;Q8IVF5-2;Q8IVF5-5;Q8IVF5	.;.;.;TIAM2_HUMAN	K	1591;1837;1620;1591;967;1615;1620;903;935;516	ENSP00000437188:Q1591K;ENSP00000407746:Q1620K;ENSP00000327315:Q1591K;ENSP00000356142:Q967K;ENSP00000353528:Q1615K;ENSP00000433348:Q1620K;ENSP00000407183:Q903K;ENSP00000435335:Q935K;ENSP00000275246:Q516K	ENSP00000275246:Q516K	Q	+	1	0	TIAM2	155619612	1.000000	0.71417	0.884000	0.34674	0.988000	0.76386	5.255000	0.65462	1.499000	0.48617	0.650000	0.86243	CAG	TIAM2	-	NULL	ENSG00000146426		0.552	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	TIAM2	HGNC	protein_coding	OTTHUMT00000387980.2	47	0.00	0	C	NM_012454		155577920	155577920	+1	no_errors	ENST00000456144	ensembl	human	known	69_37n	missense	38	22.45	11	SNP	0.999	A
TICRR	90381	genome.wustl.edu	37	15	90166915	90166915	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:90166915C>G	ENST00000268138.7	+	20	3479	c.3374C>G	c.(3373-3375)tCt>tGt	p.S1125C	KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Missense_Mutation_p.S1124C			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	1125					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										AGAAGGATCTCTCATACACCA	0.408																																						dbGAP											0													163.0	160.0	161.0					15																	90166915		1843	4092	5935	-	-	-	SO:0001583	missense	0			AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.3374C>G	15.37:g.90166915C>G	ENSP00000268138:p.Ser1125Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Missense_Mutation	SNP	NULL	p.S1125C	ENST00000268138.7	37	c.3374	CCDS10352.2	15	.	.	.	.	.	.	.	.	.	.	C	14.73	2.622742	0.46840	.	.	ENSG00000140534	ENST00000268138	T	0.08807	3.05	5.27	3.38	0.38709	.	0.214555	0.38272	N	0.001757	T	0.06645	0.0170	N	0.08118	0	0.43394	D	0.995511	P	0.51791	0.948	P	0.47162	0.54	T	0.36890	-0.9729	10	0.87932	D	0	-4.9711	11.9037	0.52699	0.0:0.8567:0.0:0.1433	.	1125	Q7Z2Z1	TICRR_HUMAN	C	1125	ENSP00000268138:S1125C	ENSP00000268138:S1125C	S	+	2	0	C15orf42	87967919	0.072000	0.21174	0.016000	0.15963	0.013000	0.08279	1.334000	0.33827	0.582000	0.29556	0.563000	0.77884	TCT	TICRR	-	NULL	ENSG00000140534		0.408	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TICRR	HGNC	protein_coding	OTTHUMT00000312856.1	36	0.00	0	C	NM_152259		90166915	90166915	+1	no_errors	ENST00000268138	ensembl	human	known	69_37n	missense	33	15.38	6	SNP	0.237	G
TIFA	92610	genome.wustl.edu	37	4	113199140	113199140	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:113199140G>A	ENST00000361717.3	-	2	714	c.433C>T	c.(433-435)Cca>Tca	p.P145S	TIFA_ENST00000500655.2_Missense_Mutation_p.P145S	NM_052864.2	NP_443096.1	Q96CG3	TIFA_HUMAN	TRAF-interacting protein with forkhead-associated domain	145					I-kappaB kinase/NF-kappaB signaling (GO:0007249)					breast(2)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)	6		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00172)		AGTGATCTTGGAGATAAAATA	0.463																																						dbGAP											0													76.0	77.0	77.0					4																	113199140		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC008294	CCDS34051.1	4q25	2008-03-17				ENSG00000145365			19075	protein-coding gene	gene with protein product	"""TRAF2 binding protein"", ""TRAF6 binding protein"""	609028				1179819	Standard	NM_052864		Approved	MGC20791, T2BP, T6BP, TIFAA	uc003ial.3	Q96CG3		ENST00000361717.3:c.433C>T	4.37:g.113199140G>A	ENSP00000354911:p.Pro145Ser	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,pfscan_FHA_dom	p.P145S	ENST00000361717.3	37	c.433	CCDS34051.1	4	.	.	.	.	.	.	.	.	.	.	G	8.936	0.964692	0.18583	.	.	ENSG00000145365	ENST00000361717;ENST00000500655	T;T	0.41400	1.0;1.0	5.79	3.08	0.35506	.	0.795982	0.12269	N	0.483950	T	0.31482	0.0798	L	0.53249	1.67	0.09310	N	1	B	0.16396	0.017	B	0.10450	0.005	T	0.34477	-0.9827	10	0.13108	T	0.6	-3.3481	3.5662	0.07900	0.1312:0.0994:0.4704:0.2989	.	145	Q96CG3	TIFA_HUMAN	S	145	ENSP00000354911:P145S;ENSP00000424231:P145S	ENSP00000354911:P145S	P	-	1	0	TIFA	113418589	0.199000	0.23386	0.386000	0.26170	0.598000	0.36846	1.063000	0.30567	0.342000	0.23796	-0.150000	0.13652	CCA	TIFA	-	NULL	ENSG00000145365		0.463	TIFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIFA	HGNC	protein_coding	OTTHUMT00000363647.2	116	0.00	0	G	NM_052864		113199140	113199140	-1	no_errors	ENST00000361717	ensembl	human	known	69_37n	missense	75	31.19	34	SNP	0.047	A
TIMM17A	10440	genome.wustl.edu	37	1	201932806	201932806	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:201932806G>A	ENST00000367287.4	+	4	289	c.253G>A	c.(253-255)Gga>Aga	p.G85R	TIMM17A_ENST00000482943.1_3'UTR	NM_006335.2	NP_006326.1	Q99595	TI17A_HUMAN	translocase of inner mitochondrial membrane 17 homolog A (yeast)	85					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane presequence translocase complex (GO:0005744)	P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)			kidney(1)|lung(3)|stomach(1)	5						TCAAGTCAGAGGAAAGGAAGA	0.413																																						dbGAP											0													93.0	88.0	89.0					1																	201932806		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF106622	CCDS1417.1	1q32.1	2008-05-23			ENSG00000134375	ENSG00000134375			17315	protein-coding gene	gene with protein product		605057				8893850, 10339406	Standard	NM_006335		Approved	TIM17, TIM17A	uc001gxc.3	Q99595	OTTHUMG00000035806	ENST00000367287.4:c.253G>A	1.37:g.201932806G>A	ENSP00000356256:p.Gly85Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDM5|Q9BWF5	Missense_Mutation	SNP	pfam_Tim17/Tim22/Tim23/PMP24,tigrfam_Tim17	p.G85R	ENST00000367287.4	37	c.253	CCDS1417.1	1	.	.	.	.	.	.	.	.	.	.	g	15.02	2.708055	0.48412	.	.	ENSG00000134375	ENST00000367287	T	0.35421	1.31	5.35	4.44	0.53790	.	0.043776	0.85682	N	0.000000	T	0.32615	0.0835	L	0.47078	1.49	0.80722	D	1	B	0.26363	0.147	B	0.30251	0.113	T	0.08330	-1.0727	10	0.27785	T	0.31	1.1256	12.3892	0.55348	0.0824:0.0:0.9176:0.0	.	85	Q99595	TI17A_HUMAN	R	85	ENSP00000356256:G85R	ENSP00000356256:G85R	G	+	1	0	TIMM17A	200199429	1.000000	0.71417	0.933000	0.37362	0.925000	0.55904	6.372000	0.73123	1.405000	0.46838	-0.119000	0.15052	GGA	TIMM17A	-	pfam_Tim17/Tim22/Tim23/PMP24,tigrfam_Tim17	ENSG00000134375		0.413	TIMM17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIMM17A	HGNC	protein_coding	OTTHUMT00000087092.1	135	0.00	0	G	NM_006335		201932806	201932806	+1	no_errors	ENST00000367287	ensembl	human	known	69_37n	missense	98	29.79	42	SNP	1.000	A
TIMM50	92609	genome.wustl.edu	37	19	39978708	39978708	+	Nonsense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:39978708C>G	ENST00000607714.1	+	9	726	c.704C>G	c.(703-705)tCa>tGa	p.S235*	TIMM50_ENST00000544017.1_Nonsense_Mutation_p.S122*|TIMM50_ENST00000599794.1_Nonsense_Mutation_p.S39*|TIMM50_ENST00000314349.4_Nonsense_Mutation_p.S338*			Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)	235	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.				cellular protein metabolic process (GO:0044267)|mitochondrial membrane organization (GO:0007006)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein targeting to mitochondrion (GO:0006626)|release of cytochrome c from mitochondria (GO:0001836)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)	interleukin-2 receptor binding (GO:0005134)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CAGGATATTTCATGTCTGAAT	0.522																																						dbGAP											0													140.0	130.0	133.0					19																	39978708		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC009072	CCDS33023.1	19q13.2	2010-06-21	2006-04-04		ENSG00000105197	ENSG00000105197		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	23656	protein-coding gene	gene with protein product		607381	"""translocase of inner mitochondrial membrane 50 homolog (yeast)"""			12437925	Standard	NM_001001563		Approved	TIM50L	uc002olu.1	Q3ZCQ8		ENST00000607714.1:c.704C>G	19.37:g.39978708C>G	ENSP00000475531:p.Ser235*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q330K1|Q6QA00|Q96FJ5|Q96GY2|Q9H370	Nonsense_Mutation	SNP	pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF	p.S338*	ENST00000607714.1	37	c.1013		19	.	.	.	.	.	.	.	.	.	.	C	36	5.717592	0.96839	.	.	ENSG00000105197	ENST00000314349;ENST00000544017	.	.	.	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-15.0053	17.1189	0.86696	0.0:1.0:0.0:0.0	.	.	.	.	X	338;122	.	.	S	+	2	0	TIMM50	44670548	1.000000	0.71417	0.938000	0.37757	0.518000	0.34316	7.266000	0.78452	2.567000	0.86603	0.655000	0.94253	TCA	TIMM50	-	pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF	ENSG00000105197		0.522	TIMM50-021	KNOWN	basic|appris_principal	protein_coding	TIMM50	HGNC	protein_coding	OTTHUMT00000470728.1	58	0.00	0	C	NM_001001563		39978708	39978708	+1	no_errors	ENST00000314349	ensembl	human	known	69_37n	nonsense	51	21.54	14	SNP	1.000	G
TINAG	27283	genome.wustl.edu	37	6	54173489	54173489	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:54173489C>T	ENST00000259782.4	+	1	237	c.141C>T	c.(139-141)ttC>ttT	p.F47F	TINAG_ENST00000370869.3_Silent_p.F43F|TINAG_ENST00000370864.3_Silent_p.F29F|TINAG_ENST00000486436.1_3'UTR	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	47					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GTACTCGATTCAAAAGAGCCA	0.428																																						dbGAP											0													156.0	144.0	148.0					6																	54173489		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.141C>T	6.37:g.54173489C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T467|Q9UJW1|Q9ULZ4	Silent	SNP	pfam_Peptidase_C1A_C,pfam_Somatomedin_B_dom,smart_Somatomedin_B_dom,smart_Peptidase_C1A_C,pfscan_Somatomedin_B_dom	p.F47	ENST00000259782.4	37	c.141	CCDS4955.1	6																																																																																			TINAG	-	NULL	ENSG00000137251		0.428	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TINAG	HGNC	protein_coding	OTTHUMT00000040984.1	110	0.00	0	C	NM_014464		54173489	54173489	+1	no_errors	ENST00000259782	ensembl	human	known	69_37n	silent	78	25.71	27	SNP	1.000	T
TJP2	9414	genome.wustl.edu	37	9	71833296	71833296	+	Intron	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:71833296C>G	ENST00000377245.4	+	4	550				TJP2_ENST00000453658.2_Intron|TJP2_ENST00000348208.4_Intron|TJP2_ENST00000265384.7_Intron|TJP2_ENST00000535702.1_Intron|TJP2_ENST00000539225.1_Intron|TJP2_ENST00000377259.1_Missense_Mutation_p.F98L	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2						apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						GGTTTGCTTTCAGCTTGCCTT	0.438																																						dbGAP											0													105.0	87.0	93.0					9																	71833296		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"""Friedreich ataxia region gene X104 (tight junction protein ZO-2)"", ""zona occludens 2"""	607709	"""deafness, autosomal dominant 51"""	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.342+21C>G	9.37:g.71833296C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.F98L	ENST00000377245.4	37	c.294	CCDS6627.1	9	.	.	.	.	.	.	.	.	.	.	C	14.27	2.484762	0.44147	.	.	ENSG00000119139	ENST00000377259	T	0.18810	2.19	5.77	-1.24	0.09435	.	.	.	.	.	T	0.09024	0.0223	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.40887	-0.9539	6	0.10902	T	0.67	.	7.1593	0.25654	0.0:0.4723:0.1172:0.4104	.	.	.	.	L	98	ENSP00000366469:F98L	ENSP00000366469:F98L	F	+	3	2	TJP2	71023116	0.049000	0.20398	0.000000	0.03702	0.160000	0.22226	0.657000	0.24963	-0.107000	0.12088	-0.176000	0.13171	TTC	TJP2	-	NULL	ENSG00000119139		0.438	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	TJP2	HGNC	protein_coding	OTTHUMT00000052572.2	96	0.00	0	C	NM_201629		71833296	71833296	+1	no_errors	ENST00000377259	ensembl	human	known	69_37n	missense	77	17.20	16	SNP	0.000	G
TKTL1	8277	genome.wustl.edu	37	X	153540979	153540979	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:153540979G>A	ENST00000369915.3	+	6	908	c.719G>A	c.(718-720)aGa>aAa	p.R240K	TKTL1_ENST00000217905.7_Intron|TKTL1_ENST00000369912.2_Missense_Mutation_p.R184K	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	240					glucose catabolic process (GO:0006007)|thiamine metabolic process (GO:0006772)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-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)					CCGAGAGAAAGAGCAGATGCC	0.433																																						dbGAP											0													139.0	117.0	124.0					X																	153540979		2203	4300	6503	-	-	-	SO:0001583	missense	0			X91817	CCDS35448.1, CCDS55541.1	Xq28	2008-02-05			ENSG00000007350	ENSG00000007350			11835	protein-coding gene	gene with protein product		300044				8838793	Standard	NM_012253		Approved	TKR, TKT2	uc004fkg.3	P51854	OTTHUMG00000022707	ENST00000369915.3:c.719G>A	X.37:g.153540979G>A	ENSP00000358931:p.Arg240Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K896|Q5TYJ8|Q5TYJ9|Q8TC75	Missense_Mutation	SNP	pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd	p.R240K	ENST00000369915.3	37	c.719	CCDS35448.1	X	.	.	.	.	.	.	.	.	.	.	G	5.695	0.312769	0.10789	.	.	ENSG00000007350	ENST00000369915;ENST00000441970;ENST00000369912	T;T	0.28069	1.63;1.63	4.5	3.55	0.40652	Transketolase, N-terminal (1);	0.157808	0.51477	D	0.000090	T	0.11324	0.0276	N	0.10874	0.06	0.80722	D	1	B;B	0.14012	0.009;0.009	B;B	0.21360	0.034;0.034	T	0.21484	-1.0244	10	0.02654	T	1	-22.8088	3.9118	0.09207	0.3511:0.0:0.6489:0.0	.	234;240	B7Z7I0;P51854	.;TKTL1_HUMAN	K	240;184;184	ENSP00000358931:R240K;ENSP00000358928:R184K	ENSP00000358928:R184K	R	+	2	0	TKTL1	153194173	1.000000	0.71417	0.998000	0.56505	0.917000	0.54804	0.877000	0.28106	2.089000	0.63090	0.411000	0.27672	AGA	TKTL1	-	pfam_Transketolase_N	ENSG00000007350		0.433	TKTL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TKTL1	HGNC	protein_coding	OTTHUMT00000058923.1	151	0.66	1	G	NM_012253		153540979	153540979	+1	no_errors	ENST00000369915	ensembl	human	known	69_37n	missense	108	21.17	29	SNP	1.000	A
TKTL1	8277	genome.wustl.edu	37	X	153555942	153555942	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:153555942C>T	ENST00000369915.3	+	11	1596	c.1407C>T	c.(1405-1407)ctC>ctT	p.L469L	TKTL1_ENST00000217905.7_Silent_p.L209L|TKTL1_ENST00000482044.1_3'UTR|TKTL1_ENST00000369912.2_Silent_p.L413L	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	469					glucose catabolic process (GO:0006007)|thiamine metabolic process (GO:0006772)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-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)					ACCAGGTCCTCCGCCACTGTG	0.483																																						dbGAP											0													119.0	100.0	106.0					X																	153555942		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X91817	CCDS35448.1, CCDS55541.1	Xq28	2008-02-05			ENSG00000007350	ENSG00000007350			11835	protein-coding gene	gene with protein product		300044				8838793	Standard	NM_012253		Approved	TKR, TKT2	uc004fkg.3	P51854	OTTHUMG00000022707	ENST00000369915.3:c.1407C>T	X.37:g.153555942C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K896|Q5TYJ8|Q5TYJ9|Q8TC75	Silent	SNP	pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd	p.L469	ENST00000369915.3	37	c.1407	CCDS35448.1	X																																																																																			TKTL1	-	pfam_Transketolase_C,superfamily_Transketo_C/Pyr-ferredox_oxred	ENSG00000007350		0.483	TKTL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TKTL1	HGNC	protein_coding	OTTHUMT00000058923.1	87	0.00	0	C	NM_012253		153555942	153555942	+1	no_errors	ENST00000369915	ensembl	human	known	69_37n	silent	64	28.09	25	SNP	0.564	T
TLE2	7089	genome.wustl.edu	37	19	2997923	2997923	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:2997923C>G	ENST00000262953.6	-	20	2417	c.2155G>C	c.(2155-2157)Gac>Cac	p.D719H	TLE2_ENST00000586422.1_Intron|TLE2_ENST00000590536.1_Missense_Mutation_p.D720H|TLE2_ENST00000447365.2_Missense_Mutation_p.D386H|TLE2_ENST00000443826.3_Missense_Mutation_p.D597H|TLE2_ENST00000591529.1_Nonstop_Mutation_p.*707S|TLE2_ENST00000426948.2_Nonstop_Mutation_p.*707S|TLE2_ENST00000455444.2_Missense_Mutation_p.D597H	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2	719					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				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)		CTGGAGATGTCACAACTCAGG	0.552																																						dbGAP											0													81.0	80.0	80.0					19																	2997923		2054	4195	6249	-	-	-	SO:0001583	missense	0			M99436	CCDS45911.1, CCDS45912.1, CCDS45913.1, CCDS74255.1	19p13.3	2014-03-07	2014-03-07					"""WD repeat domain containing"""	11838	protein-coding gene	gene with protein product	"""enhancer of split groucho 2"""	601041	"""transducin-like enhancer of split 2, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)"""			8808280	Standard	NM_003260		Approved	ESG2, GRG2, ESG, FLJ41188	uc002lww.3	Q04725		ENST00000262953.6:c.2155G>C	19.37:g.2997923C>G	ENSP00000262953:p.Asp719His	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DE03|E9PEV7|F8WCH2|Q8WVY0|Q9Y6S0	Missense_Mutation	SNP	pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Groucho_enhance,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D719H	ENST00000262953.6	37	c.2155	CCDS45911.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.56|19.56	3.851487|3.851487	0.71719|0.71719	.|.	.|.	ENSG00000065717|ENSG00000065717	ENST00000262953;ENST00000455444;ENST00000360654;ENST00000447365;ENST00000443826|ENST00000450017;ENST00000426948	T;T;T;T|.	0.61510|.	2.73;0.1;0.1;0.1|.	4.19|4.19	4.19|4.19	0.49359|0.49359	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|.	0.44664|.	0.1304|.	.|.	.|.	.|.	0.23820|0.23820	N|N	0.996752|0.996752	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|.	0.31696|.	-0.9934|.	9|.	0.87932|.	D|.	0|.	-9.7248|-9.7248	14.4085|14.4085	0.67099|0.67099	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	597;386;597;719|.	E9PEV7;B4DE62;B4DE03;Q04725|.	.;.;.;TLE2_HUMAN|.	H|S	719;597;268;386;597|687;707	ENSP00000262953:D719H;ENSP00000413107:D597H;ENSP00000406523:D386H;ENSP00000392427:D597H|.	ENSP00000262953:D719H|.	D|X	-|-	1|2	0|2	TLE2|TLE2	2948923|2948923	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.565000|0.565000	0.35776|0.35776	7.582000|7.582000	0.82546|0.82546	2.334000|2.334000	0.79466|0.79466	0.462000|0.462000	0.41574|0.41574	GAC|TGA	TLE2	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Groucho_enhance,pfscan_WD40_repeat_dom	ENSG00000065717		0.552	TLE2-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	TLE2	HGNC	protein_coding	OTTHUMT00000452194.2	84	0.00	0	C	NM_003260		2997923	2997923	-1	no_errors	ENST00000262953	ensembl	human	known	69_37n	missense	76	20.00	19	SNP	1.000	G
TLE2	7089	genome.wustl.edu	37	19	3005795	3005795	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:3005795C>T	ENST00000262953.6	-	16	1934	c.1672G>A	c.(1672-1674)Gac>Aac	p.D558N	TLE2_ENST00000586422.1_Intron|TLE2_ENST00000590536.1_Missense_Mutation_p.D559N|TLE2_ENST00000447365.2_Missense_Mutation_p.D225N|TLE2_ENST00000443826.3_Missense_Mutation_p.D436N|TLE2_ENST00000591529.1_Missense_Mutation_p.D572N|TLE2_ENST00000426948.2_Missense_Mutation_p.D572N|TLE2_ENST00000455444.2_Missense_Mutation_p.D436N	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2	558					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				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)		ACCTTGGCGTCGGGGCTGACG	0.642																																						dbGAP											0													53.0	60.0	58.0					19																	3005795		2196	4298	6494	-	-	-	SO:0001583	missense	0			M99436	CCDS45911.1, CCDS45912.1, CCDS45913.1, CCDS74255.1	19p13.3	2014-03-07	2014-03-07					"""WD repeat domain containing"""	11838	protein-coding gene	gene with protein product	"""enhancer of split groucho 2"""	601041	"""transducin-like enhancer of split 2, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)"""			8808280	Standard	NM_003260		Approved	ESG2, GRG2, ESG, FLJ41188	uc002lww.3	Q04725		ENST00000262953.6:c.1672G>A	19.37:g.3005795C>T	ENSP00000262953:p.Asp558Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DE03|E9PEV7|F8WCH2|Q8WVY0|Q9Y6S0	Missense_Mutation	SNP	pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Groucho_enhance,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D558N	ENST00000262953.6	37	c.1672	CCDS45911.1	19	.	.	.	.	.	.	.	.	.	.	C	28.4	4.914142	0.92178	.	.	ENSG00000065717	ENST00000262953;ENST00000455444;ENST00000360654;ENST00000450017;ENST00000447365;ENST00000443826;ENST00000426948	T;T;T;T;T	0.14391	2.51;2.51;2.51;2.51;2.51	3.9	3.9	0.45041	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	0.38453	0.1041	M	0.81179	2.53	0.58432	D	0.999998	D;D;D;D;D	0.89917	0.998;1.0;0.996;0.998;0.998	D;D;P;D;D	0.97110	0.978;1.0;0.885;0.986;0.986	T	0.36163	-0.9759	10	0.66056	D	0.02	-2.5393	13.7494	0.62897	0.0:1.0:0.0:0.0	.	436;225;572;436;558	E9PEV7;B4DE62;F8WCH2;B4DE03;Q04725	.;.;.;.;TLE2_HUMAN	N	558;436;107;552;225;436;572	ENSP00000262953:D558N;ENSP00000413107:D436N;ENSP00000406523:D225N;ENSP00000392427:D436N;ENSP00000392869:D572N	ENSP00000262953:D558N	D	-	1	0	TLE2	2956795	1.000000	0.71417	0.995000	0.50966	0.974000	0.67602	5.839000	0.69395	2.160000	0.67779	0.462000	0.41574	GAC	TLE2	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000065717		0.642	TLE2-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	TLE2	HGNC	protein_coding	OTTHUMT00000452194.2	27	0.00	0	C	NM_003260		3005795	3005795	-1	no_errors	ENST00000262953	ensembl	human	known	69_37n	missense	25	32.43	12	SNP	1.000	T
TLE3	7090	genome.wustl.edu	37	15	70345643	70345643	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:70345643C>T	ENST00000558939.1	-	17	3283	c.1906G>A	c.(1906-1908)Ggg>Agg	p.G636R	TLE3_ENST00000451782.2_Missense_Mutation_p.G633R|TLE3_ENST00000560589.1_Missense_Mutation_p.G580R|TLE3_ENST00000442299.2_Missense_Mutation_p.G628R|TLE3_ENST00000440567.3_Missense_Mutation_p.G626R|TLE3_ENST00000539550.1_Missense_Mutation_p.G563R|TLE3_ENST00000560939.1_Missense_Mutation_p.G638R|TLE3_ENST00000557907.1_Missense_Mutation_p.G628R|TLE3_ENST00000558379.1_Missense_Mutation_p.G631R|TLE3_ENST00000317509.8_Missense_Mutation_p.G624R|TLE3_ENST00000557997.1_Missense_Mutation_p.G628R|TLE3_ENST00000558201.1_Missense_Mutation_p.G642R|TLE3_ENST00000559191.1_Missense_Mutation_p.G217R|TLE3_ENST00000559048.1_Missense_Mutation_p.G636R|TLE3_ENST00000559929.1_Missense_Mutation_p.G646R	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3	636					Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.G636L(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TCCAGGCCCCCTGTCCACAGT	0.627																																						dbGAP											1	Substitution - Missense(1)	lung(1)											66.0	70.0	69.0					15																	70345643		2134	4267	6401	-	-	-	SO:0001583	missense	0			M99438	CCDS45293.1, CCDS45294.1, CCDS58375.1, CCDS61689.1, CCDS61691.1, CCDS61692.1, CCDS73747.1	15q22	2014-03-07	2014-03-07			ENSG00000140332		"""WD repeat domain containing"""	11839	protein-coding gene	gene with protein product		600190	"""transducin-like enhancer of split 3, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005254623		Approved	ESG, ESG3, KIAA1547, HsT18976, GRG3	uc002asm.2	Q04726		ENST00000558939.1:c.1906G>A	15.37:g.70345643C>T	ENSP00000452871:p.Gly636Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DPT0|E9PD64|F8W964|Q6PI57|Q8IVV6|Q8WVR2|Q9HCM5	Missense_Mutation	SNP	pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance	p.G636R	ENST00000558939.1	37	c.1906	CCDS45293.1	15	.	.	.	.	.	.	.	.	.	.	C	31	5.080741	0.94050	.	.	ENSG00000140332	ENST00000442299;ENST00000451782;ENST00000317509;ENST00000440567;ENST00000539550	T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62	5.03	5.03	0.67393	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.88451	0.6440	M	0.93720	3.45	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.91319	0.5080	10	0.87932	D	0	-3.3941	18.137	0.89622	0.0:1.0:0.0:0.0	.	626;633;628;631;624;636;636;563	F8W964;E9PD64;Q04726-3;Q6PI57;Q04726-2;Q04726;Q04726-4;F5H7D6	.;.;.;.;.;TLE3_HUMAN;.;.	R	628;633;636;626;563	ENSP00000390007:G628R;ENSP00000394717:G633R;ENSP00000415057:G626R;ENSP00000442594:G563R	ENSP00000319233:G636R	G	-	1	0	TLE3	68132697	1.000000	0.71417	0.761000	0.31378	0.981000	0.71138	7.556000	0.82233	2.615000	0.88500	0.561000	0.74099	GGG	TLE3	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000140332		0.627	TLE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TLE3	HGNC	protein_coding	OTTHUMT00000416913.1	104	0.00	0	C	NM_005078		70345643	70345643	-1	no_errors	ENST00000558939	ensembl	human	known	69_37n	missense	72	21.74	20	SNP	1.000	T
TLK1	9874	genome.wustl.edu	37	2	171974326	171974326	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:171974326C>T	ENST00000431350.2	-	2	585	c.181G>A	c.(181-183)Gag>Aag	p.E61K	TLK1_ENST00000442919.2_Missense_Mutation_p.E13K|TLK1_ENST00000521943.1_Missense_Mutation_p.E13K|TLK1_ENST00000360843.3_Missense_Mutation_p.E61K			Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	61					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TCCAATAACTCTTGCCTTCTT	0.368																																						dbGAP											0													136.0	125.0	128.0					2																	171974326		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB004885	CCDS2241.1, CCDS46447.1, CCDS46448.1	2q31.1	2010-04-19			ENSG00000198586	ENSG00000198586			11841	protein-coding gene	gene with protein product		608438				9427565, 12660173	Standard	NM_012290		Approved	KIAA0137, PKU-BETA	uc002ugp.2	Q9UKI8	OTTHUMG00000132243	ENST00000431350.2:c.181G>A	2.37:g.171974326C>T	ENSP00000411099:p.Glu61Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KR15|B4DX87|Q14150|Q8N591|Q9NYH2|Q9Y4F6	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.E61K	ENST00000431350.2	37	c.181	CCDS2241.1	2	.	.	.	.	.	.	.	.	.	.	C	24.5	4.538081	0.85917	.	.	ENSG00000198586	ENST00000442919;ENST00000431350;ENST00000360843;ENST00000521943	D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84	5.18	5.18	0.71444	.	0.100673	0.64402	D	0.000002	D	0.86892	0.6042	M	0.76002	2.32	0.58432	D	0.999999	B;B	0.33694	0.421;0.296	B;B	0.37346	0.247;0.125	D	0.87848	0.2656	10	0.72032	D	0.01	.	17.4631	0.87625	0.0:1.0:0.0:0.0	.	61;61	Q9UKI8-2;Q9UKI8	.;TLK1_HUMAN	K	13;61;61;13	ENSP00000402165:E13K;ENSP00000411099:E61K;ENSP00000354089:E61K;ENSP00000428113:E13K	ENSP00000352810:E61K	E	-	1	0	TLK1	171682572	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.733000	0.74796	2.415000	0.81967	0.460000	0.39030	GAG	TLK1	-	NULL	ENSG00000198586		0.368	TLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLK1	HGNC	protein_coding	OTTHUMT00000255314.1	97	0.00	0	C	NM_012290		171974326	171974326	-1	no_errors	ENST00000431350	ensembl	human	known	69_37n	missense	95	16.67	19	SNP	1.000	T
TLL1	7092	genome.wustl.edu	37	4	167020662	167020662	+	Missense_Mutation	SNP	C	C	G	rs541756882		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:167020662C>G	ENST00000061240.2	+	20	3537	c.2890C>G	c.(2890-2892)Cga>Gga	p.R964G	TLL1_ENST00000507499.1_Missense_Mutation_p.R987G	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	964	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R964R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GGGGCTTGGTCGATTCTGTGG	0.423													C|||	1	0.000199681	0.0	0.0	5008	,	,		15888	0.0		0.0	False		,,,				2504	0.001					dbGAP											1	Substitution - coding silent(1)	lung(1)											178.0	183.0	182.0					4																	167020662		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.2890C>G	4.37:g.167020662C>G	ENSP00000061240:p.Arg964Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	pfam_CUB,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd,superfamily_CUB,smart_Peptidase_Metallo,smart_CUB,smart_EGF-like_Ca-bd,smart_EGF-like,pirsf_BMP_1/tolloid-like,pfscan_CUB,pfscan_EG-like_dom,prints_Peptidase_M12A	p.R964G	ENST00000061240.2	37	c.2890	CCDS3811.1	4	.	.	.	.	.	.	.	.	.	.	C	13.59	2.283015	0.40394	.	.	ENSG00000038295	ENST00000061240;ENST00000507499	T;T	0.20069	2.1;2.1	5.45	4.58	0.56647	CUB (5);	0.000000	0.64402	U	0.000001	T	0.54695	0.1874	M	0.92412	3.305	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	T	0.65216	-0.6222	10	0.62326	D	0.03	.	12.9523	0.58407	0.3041:0.6959:0.0:0.0	.	987;964	E9PD25;O43897	.;TLL1_HUMAN	G	964;987	ENSP00000061240:R964G;ENSP00000426082:R987G	ENSP00000061240:R964G	R	+	1	2	TLL1	167240112	1.000000	0.71417	0.996000	0.52242	0.004000	0.04260	3.820000	0.55693	1.228000	0.43614	0.655000	0.94253	CGA	TLL1	-	pfam_CUB,superfamily_CUB,smart_CUB,pirsf_BMP_1/tolloid-like,pfscan_CUB	ENSG00000038295		0.423	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLL1	HGNC	protein_coding	OTTHUMT00000363821.1	154	0.00	0	C			167020662	167020662	+1	no_errors	ENST00000061240	ensembl	human	known	69_37n	missense	107	30.07	46	SNP	1.000	G
TLN1	7094	genome.wustl.edu	37	9	35714766	35714766	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:35714766C>G	ENST00000314888.9	-	22	3215	c.2862G>C	c.(2860-2862)caG>caC	p.Q954H	TLN1_ENST00000540444.1_Missense_Mutation_p.Q954H	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	954					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCTTGCAGCTCTGCACCAGCA	0.597																																						dbGAP											0													54.0	63.0	60.0					9																	35714766		2201	4299	6500	-	-	-	SO:0001583	missense	0			AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.2862G>C	9.37:g.35714766C>G	ENSP00000316029:p.Gln954His	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ,pfscan_FERM_domain,pfscan_ILWEQ	p.Q954H	ENST00000314888.9	37	c.2862	CCDS35009.1	9	.	.	.	.	.	.	.	.	.	.	C	18.07	3.541481	0.65085	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.70282	-0.47;-0.47	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.72095	0.3418	M	0.63843	1.955	0.80722	D	1	B	0.09022	0.002	B	0.10450	0.005	T	0.66740	-0.5847	10	0.62326	D	0.03	-14.8573	20.428	0.99075	0.0:1.0:0.0:0.0	.	954	Q9Y490	TLN1_HUMAN	H	954	ENSP00000316029:Q954H;ENSP00000442981:Q954H	ENSP00000316029:Q954H	Q	-	3	2	TLN1	35704766	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.120000	0.50430	2.837000	0.97791	0.655000	0.94253	CAG	TLN1	-	NULL	ENSG00000137076		0.597	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN1	HGNC	protein_coding	OTTHUMT00000052353.2	18	0.00	0	C	NM_006289		35714766	35714766	-1	no_errors	ENST00000314888	ensembl	human	known	69_37n	missense	18	51.35	19	SNP	1.000	G
TLR10	81793	genome.wustl.edu	37	4	38776671	38776671	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:38776671C>T	ENST00000308973.4	-	4	1146	c.541G>A	c.(541-543)Gaa>Aaa	p.E181K	TLR10_ENST00000361424.2_Missense_Mutation_p.E181K|TLR10_ENST00000506111.1_Missense_Mutation_p.E181K|TLR10_ENST00000507953.1_5'Flank|TLR10_ENST00000508334.1_Missense_Mutation_p.E181K	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	181					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of inflammatory response (GO:0050729)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						CTACCTTCTTCATAATGAGGA	0.378																																						dbGAP											0													72.0	74.0	73.0					4																	38776671		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF296673	CCDS3445.1	4p14	2009-11-23			ENSG00000174123	ENSG00000174123		"""CD molecules"""	15634	protein-coding gene	gene with protein product		606270				11267672	Standard	NM_030956		Approved	CD290	uc003gtk.3	Q9BXR5	OTTHUMG00000128578	ENST00000308973.4:c.541G>A	4.37:g.38776671C>T	ENSP00000308925:p.Glu181Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7L1|B3Y668|D1CS21|D1CS22|Q32MI7|Q32MI8|Q5FWG4|Q6UXL3	Missense_Mutation	SNP	pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.E181K	ENST00000308973.4	37	c.541	CCDS3445.1	4	.	.	.	.	.	.	.	.	.	.	C	16.65	3.181689	0.57800	.	.	ENSG00000174123	ENST00000308973;ENST00000506111;ENST00000361424;ENST00000508334	D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58	5.23	5.23	0.72850	.	0.000000	0.52532	D	0.000076	T	0.81809	0.4901	L	0.48362	1.52	0.43508	D	0.995761	P	0.42584	0.784	P	0.44946	0.465	T	0.82295	-0.0528	10	0.45353	T	0.12	.	15.2089	0.73202	0.0:0.859:0.141:0.0	.	181	Q9BXR5	TLR10_HUMAN	K	181	ENSP00000308925:E181K;ENSP00000421483:E181K;ENSP00000354459:E181K;ENSP00000424923:E181K	ENSP00000308925:E181K	E	-	1	0	TLR10	38453066	0.035000	0.19736	1.000000	0.80357	0.994000	0.84299	0.320000	0.19540	2.442000	0.82660	0.655000	0.94253	GAA	TLR10	-	pirsf_Toll-like_receptor	ENSG00000174123		0.378	TLR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR10	HGNC	protein_coding	OTTHUMT00000250430.1	72	0.00	0	C			38776671	38776671	-1	no_errors	ENST00000308973	ensembl	human	known	69_37n	missense	37	17.78	8	SNP	1.000	T
TLR3	7098	genome.wustl.edu	37	4	187003492	187003492	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:187003492C>T	ENST00000296795.3	+	4	756	c.652C>T	c.(652-654)Cac>Tac	p.H218Y	TLR3_ENST00000508051.1_3'UTR|TLR3_ENST00000504367.1_5'UTR	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	218					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		AGGGTGTTTTCACGCAATTGG	0.378																																						dbGAP											0													95.0	103.0	100.0					4																	187003492		2203	4300	6503	-	-	-	SO:0001583	missense	0			U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"""CD molecules"""	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.652C>T	4.37:g.187003492C>T	ENSP00000296795:p.His218Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Missense_Mutation	SNP	pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.H218Y	ENST00000296795.3	37	c.652	CCDS3846.1	4	.	.	.	.	.	.	.	.	.	.	C	11.71	1.720893	0.30503	.	.	ENSG00000164342	ENST00000296795;ENST00000513189;ENST00000542020	T;T	0.79554	-1.28;0.41	5.33	4.46	0.54185	.	0.461817	0.26609	N	0.023422	T	0.77538	0.4145	L	0.33137	0.985	0.41849	D	0.990161	P	0.37731	0.607	P	0.44921	0.464	T	0.76397	-0.2974	10	0.36615	T	0.2	.	15.4007	0.74838	0.1403:0.8597:0.0:0.0	.	218	O15455	TLR3_HUMAN	Y	218	ENSP00000296795:H218Y;ENSP00000423386:H218Y	ENSP00000296795:H218Y	H	+	1	0	TLR3	187240486	0.094000	0.21725	0.790000	0.31976	0.760000	0.43138	1.360000	0.34125	1.318000	0.45170	0.460000	0.39030	CAC	TLR3	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000164342		0.378	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR3	HGNC	protein_coding	OTTHUMT00000360313.4	35	0.00	0	C			187003492	187003492	+1	no_errors	ENST00000296795	ensembl	human	known	69_37n	missense	30	26.83	11	SNP	0.347	T
TLR3	7098	genome.wustl.edu	37	4	187004563	187004563	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:187004563G>C	ENST00000296795.3	+	4	1827	c.1723G>C	c.(1723-1725)Gac>Cac	p.D575H	TLR3_ENST00000504367.1_Missense_Mutation_p.D298H	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	575				D -> N (in Ref. 8; AAH94737). {ECO:0000305}.	activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		CAACGGCTTTGACGAGATCCC	0.418																																						dbGAP											0													85.0	84.0	85.0					4																	187004563		2203	4300	6503	-	-	-	SO:0001583	missense	0			U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"""CD molecules"""	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.1723G>C	4.37:g.187004563G>C	ENSP00000296795:p.Asp575His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Missense_Mutation	SNP	pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.D575H	ENST00000296795.3	37	c.1723	CCDS3846.1	4	.	.	.	.	.	.	.	.	.	.	G	19.25	3.790768	0.70452	.	.	ENSG00000164342	ENST00000296795;ENST00000542020;ENST00000504367	T;T	0.57907	0.37;0.37	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.64800	0.2631	L	0.31804	0.96	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.63690	-0.6580	10	0.49607	T	0.09	.	20.2366	0.98359	0.0:0.0:1.0:0.0	.	575	O15455	TLR3_HUMAN	H	575;575;298	ENSP00000296795:D575H;ENSP00000423684:D298H	ENSP00000296795:D575H	D	+	1	0	TLR3	187241557	1.000000	0.71417	1.000000	0.80357	0.619000	0.37552	9.869000	0.99810	2.792000	0.96026	0.557000	0.71058	GAC	TLR3	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000164342		0.418	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR3	HGNC	protein_coding	OTTHUMT00000360313.4	76	0.00	0	G			187004563	187004563	+1	no_errors	ENST00000296795	ensembl	human	known	69_37n	missense	59	18.06	13	SNP	1.000	C
TLR7	51284	genome.wustl.edu	37	X	12904084	12904084	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:12904084C>T	ENST00000380659.3	+	3	596	c.457C>T	c.(457-459)Ctc>Ttc	p.L153F		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	153					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	CTTACAGCTTCTCAGCCTTGA	0.448																																						dbGAP											0													51.0	52.0	52.0					X																	12904084		2203	4297	6500	-	-	-	SO:0001583	missense	0			AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.457C>T	X.37:g.12904084C>T	ENSP00000370034:p.Leu153Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	D1CS69|Q9NR98	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.L153F	ENST00000380659.3	37	c.457	CCDS14151.1	X	.	.	.	.	.	.	.	.	.	.	C	15.54	2.863581	0.51482	.	.	ENSG00000196664	ENST00000380659	T	0.15139	2.45	5.62	4.76	0.60689	.	0.000000	0.64402	D	0.000006	T	0.41026	0.1141	M	0.90650	3.135	0.58432	D	0.999996	D	0.60160	0.987	P	0.56648	0.803	T	0.47812	-0.9088	10	0.87932	D	0	.	10.1181	0.42603	0.0:0.843:0.0:0.157	.	153	Q9NYK1	TLR7_HUMAN	F	153	ENSP00000370034:L153F	ENSP00000370034:L153F	L	+	1	0	TLR7	12814005	1.000000	0.71417	1.000000	0.80357	0.277000	0.26821	4.936000	0.63506	1.148000	0.42385	-0.205000	0.12727	CTC	TLR7	-	NULL	ENSG00000196664		0.448	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR7	HGNC	protein_coding	OTTHUMT00000055769.1	29	0.00	0	C	NM_016562		12904084	12904084	+1	no_errors	ENST00000380659	ensembl	human	known	69_37n	missense	41	14.58	7	SNP	1.000	T
TLX2	3196	genome.wustl.edu	37	2	74742778	74742778	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:74742778C>T	ENST00000233638.7	+	2	742	c.419C>T	c.(418-420)tCt>tTt	p.S140F	TLX2_ENST00000497238.1_3'UTR	NM_016170.4	NP_057254.1	O43763	TLX2_HUMAN	T-cell leukemia homeobox 2	140					enteric nervous system development (GO:0048484)|mesoderm formation (GO:0001707)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|ovary(1)	2						TCGCCCTTCTCTGGGACGCGC	0.667																																					Esophageal Squamous(7;240 533 18610 24312)	dbGAP											0													60.0	67.0	65.0					2																	74742778		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ002607	CCDS1947.1	2p13.1	2011-06-20	2005-12-22	2002-05-31	ENSG00000115297	ENSG00000115297		"""Homeoboxes / ANTP class : NKL subclass"""	5057	protein-coding gene	gene with protein product		604240	"""homeo box 11-like 1"", ""T-cell leukemia, homeobox 2"""	HOX11L1		10343123	Standard	NM_016170		Approved	Enx, Tlx2, NCX	uc002sma.2	O43763	OTTHUMG00000129960	ENST00000233638.7:c.419C>T	2.37:g.74742778C>T	ENSP00000233638:p.Ser140Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UD56|Q9UQ48	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.S140F	ENST00000233638.7	37	c.419	CCDS1947.1	2	.	.	.	.	.	.	.	.	.	.	C	23.9	4.474726	0.84640	.	.	ENSG00000115297	ENST00000497238;ENST00000233638	D	0.90069	-2.61	4.29	4.29	0.51040	Homeodomain-like (1);	0.131210	0.34580	N	0.003844	D	0.88548	0.6466	L	0.54323	1.7	0.43808	D	0.996369	D	0.54207	0.965	P	0.48063	0.565	D	0.89553	0.3801	10	0.56958	D	0.05	.	14.3143	0.66437	0.0:1.0:0.0:0.0	.	140	O43763	TLX2_HUMAN	F	72;140	ENSP00000233638:S140F	ENSP00000233638:S140F	S	+	2	0	TLX2	74596286	0.942000	0.31987	0.956000	0.39512	0.995000	0.86356	5.876000	0.69667	2.216000	0.71823	0.655000	0.94253	TCT	TLX2	-	superfamily_Homeodomain-like	ENSG00000115297		0.667	TLX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLX2	HGNC	protein_coding	OTTHUMT00000252224.3	25	0.00	0	C			74742778	74742778	+1	no_errors	ENST00000233638	ensembl	human	known	69_37n	missense	35	18.60	8	SNP	0.998	T
TMC2	117532	genome.wustl.edu	37	20	2575596	2575596	+	Silent	SNP	G	G	C	rs368398445		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:2575596G>C	ENST00000358864.1	+	9	1074	c.1059G>C	c.(1057-1059)ctG>ctC	p.L353L		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	353					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GCTACAGCCTGATTATTGTCA	0.537																																						dbGAP											0													147.0	116.0	126.0					20																	2575596		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"""transmembrane, cochlear expressed, 2"""	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.1059G>C	20.37:g.2575596G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Silent	SNP	pfam_TMC	p.L353	ENST00000358864.1	37	c.1059	CCDS13029.2	20																																																																																			TMC2	-	NULL	ENSG00000149488		0.537	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC2	HGNC	protein_coding	OTTHUMT00000077601.2	111	0.00	0	G			2575596	2575596	+1	no_errors	ENST00000358864	ensembl	human	known	69_37n	silent	94	13.76	15	SNP	1.000	C
TMC2	117532	genome.wustl.edu	37	20	2621879	2621879	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:2621879C>G	ENST00000358864.1	+	20	2618	c.2603C>G	c.(2602-2604)tCt>tGt	p.S868C		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	868					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CTGCCTGCCTCTGGACACCTT	0.612																																						dbGAP											0													83.0	82.0	82.0					20																	2621879		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"""transmembrane, cochlear expressed, 2"""	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.2603C>G	20.37:g.2621879C>G	ENSP00000351732:p.Ser868Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Missense_Mutation	SNP	pfam_TMC	p.S868C	ENST00000358864.1	37	c.2603	CCDS13029.2	20	.	.	.	.	.	.	.	.	.	.	C	13.64	2.298181	0.40694	.	.	ENSG00000149488	ENST00000358864	T	0.66460	-0.21	4.23	3.28	0.37604	.	1.530000	0.04327	N	0.351710	T	0.66858	0.2832	L	0.51422	1.61	0.09310	N	1	P	0.44877	0.845	B	0.43754	0.43	T	0.56505	-0.7968	10	0.56958	D	0.05	-3.9875	9.6691	0.40002	0.2066:0.7934:0.0:0.0	.	868	Q8TDI7	TMC2_HUMAN	C	868	ENSP00000351732:S868C	ENSP00000351732:S868C	S	+	2	0	TMC2	2569879	0.013000	0.17824	0.026000	0.17262	0.035000	0.12851	1.271000	0.33098	1.361000	0.45981	0.591000	0.81541	TCT	TMC2	-	NULL	ENSG00000149488		0.612	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC2	HGNC	protein_coding	OTTHUMT00000077601.2	24	0.00	0	C			2621879	2621879	+1	no_errors	ENST00000358864	ensembl	human	known	69_37n	missense	57	16.18	11	SNP	0.020	G
TM9SF4	9777	genome.wustl.edu	37	20	30746280	30746280	+	Missense_Mutation	SNP	T	T	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:30746280T>C	ENST00000398022.2	+	15	1767	c.1532T>C	c.(1531-1533)tTc>tCc	p.F511S	TM9SF4_ENST00000217315.5_Missense_Mutation_p.F494S	NM_014742.3	NP_055557.2	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	511						integral component of membrane (GO:0016021)				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ATCTTGCCCTTCGGCGCCATG	0.592																																						dbGAP											0													247.0	209.0	222.0					20																	30746280		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC021107	CCDS13196.2	20q11.21	2004-04-19			ENSG00000101337	ENSG00000101337			30797	protein-coding gene	gene with protein product						9039502	Standard	NM_014742		Approved	KIAA0255, dJ836N17.2	uc002wxj.2	Q92544	OTTHUMG00000032206	ENST00000398022.2:c.1532T>C	20.37:g.30746280T>C	ENSP00000381104:p.Phe511Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B0QYT7|Q9NUA3	Missense_Mutation	SNP	pfam_EMP70	p.F511S	ENST00000398022.2	37	c.1532	CCDS13196.2	20	.	.	.	.	.	.	.	.	.	.	T	23.3	4.395625	0.83011	.	.	ENSG00000101337	ENST00000398022;ENST00000217315	T;T	0.59772	0.24;0.24	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	D	0.84840	0.5561	H	0.98333	4.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90720	0.4634	10	0.87932	D	0	-15.8342	14.3957	0.67010	0.0:0.0:0.0:1.0	.	418;511	B4DH88;Q92544	.;TM9S4_HUMAN	S	511;494	ENSP00000381104:F511S;ENSP00000217315:F494S	ENSP00000217315:F494S	F	+	2	0	TM9SF4	30209941	1.000000	0.71417	0.916000	0.36221	0.778000	0.44026	7.712000	0.84684	1.990000	0.58119	0.533000	0.62120	TTC	TM9SF4	-	pfam_EMP70	ENSG00000101337		0.592	TM9SF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TM9SF4	HGNC	protein_coding	OTTHUMT00000323568.1	136	0.00	0	T	NM_014742		30746280	30746280	+1	no_errors	ENST00000398022	ensembl	human	known	69_37n	missense	77	60.91	120	SNP	0.999	C
TMC5	79838	genome.wustl.edu	37	16	19455423	19455423	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:19455423C>T	ENST00000396229.2	+	4	1558	c.809C>T	c.(808-810)tCa>tTa	p.S270L	TMC5_ENST00000541464.1_Missense_Mutation_p.S270L|TMC5_ENST00000542583.2_Missense_Mutation_p.S270L|TMC5_ENST00000381414.4_Missense_Mutation_p.S270L	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	270					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						AGAACATCTTCAATCCAGCCC	0.463																																						dbGAP											0													125.0	127.0	126.0					16																	19455423		1996	4159	6155	-	-	-	SO:0001583	missense	0			AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.809C>T	16.37:g.19455423C>T	ENSP00000379531:p.Ser270Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Missense_Mutation	SNP	pfam_TMC	p.S270L	ENST00000396229.2	37	c.809	CCDS45431.1	16	.	.	.	.	.	.	.	.	.	.	C	23.4	4.408925	0.83340	.	.	ENSG00000103534	ENST00000541464;ENST00000381414;ENST00000396229;ENST00000542583	T;T;T;T	0.52754	0.65;0.65;0.65;0.65	4.46	2.42	0.29668	.	23.434100	0.00397	N	0.000057	T	0.54695	0.1874	L	0.51422	1.61	0.23896	N	0.996534	P;P;D	0.56035	0.827;0.956;0.974	P;B;P	0.51415	0.526;0.366;0.669	T	0.32561	-0.9902	10	0.62326	D	0.03	0.7198	6.8076	0.23786	0.2427:0.5935:0.1638:0.0	.	270;270;270	F5GYU8;Q6UXY8;Q6UXY8-2	.;TMC5_HUMAN;.	L	270	ENSP00000441227:S270L;ENSP00000370822:S270L;ENSP00000379531:S270L;ENSP00000446274:S270L	ENSP00000370822:S270L	S	+	2	0	TMC5	19362924	0.498000	0.26075	0.853000	0.33588	0.490000	0.33462	0.600000	0.24104	0.730000	0.32425	0.655000	0.94253	TCA	TMC5	-	NULL	ENSG00000103534		0.463	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC5	HGNC	protein_coding	OTTHUMT00000435888.1	81	0.00	0	C	NM_024780		19455423	19455423	+1	no_errors	ENST00000396229	ensembl	human	known	69_37n	missense	74	15.73	14	SNP	0.880	T
TMC6	11322	genome.wustl.edu	37	17	76122675	76122675	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:76122675G>A	ENST00000590602.1	-	3	270	c.111C>T	c.(109-111)ctC>ctT	p.L37L	TMC6_ENST00000306591.7_Silent_p.L37L|TMC6_ENST00000392467.3_Silent_p.L37L|TMC6_ENST00000322933.4_5'UTR|TMC6_ENST00000589553.1_5'UTR|TMC6_ENST00000322914.3_Silent_p.L37L			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	37					ion transport (GO:0006811)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GCTCCTGGATGAGCTGCTGGA	0.662																																						dbGAP											0													66.0	60.0	62.0					17																	76122675		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY057379	CCDS32748.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000141524	ENSG00000141524			18021	protein-coding gene	gene with protein product		605828	"""epidermodysplasia verruciformis 1"""	EVER1		12426567	Standard	NM_007267		Approved	LAK-4P, EVIN1	uc002juk.2	Q7Z403	OTTHUMG00000177466	ENST00000590602.1:c.111C>T	17.37:g.76122675G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	Missense_Mutation	SNP	NULL	p.S20L	ENST00000590602.1	37	c.59	CCDS32748.1	17																																																																																			TMC6	-	NULL	ENSG00000141524		0.662	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMC6	HGNC	protein_coding	OTTHUMT00000437146.1	47	0.00	0	G			76122675	76122675	-1	no_errors	ENST00000586126	ensembl	human	known	69_37n	missense	62	19.23	15	SNP	1.000	A
TMC7	79905	genome.wustl.edu	37	16	19056734	19056734	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:19056734G>A	ENST00000304381.5	+	11	1657	c.1527G>A	c.(1525-1527)gtG>gtA	p.V509V	TMC7_ENST00000421369.3_Silent_p.V399V|TMC7_ENST00000569532.1_Silent_p.V509V	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	509					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						TCTTGGCTGTGACACTCTTCG	0.478																																						dbGAP											0													152.0	123.0	133.0					16																	19056734		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			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.1527G>A	16.37:g.19056734G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Silent	SNP	pfam_TMC	p.V509	ENST00000304381.5	37	c.1527	CCDS10573.1	16																																																																																			TMC7	-	pfam_TMC	ENSG00000170537		0.478	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC7	HGNC	protein_coding	OTTHUMT00000254276.3	60	0.00	0	G	NM_024847		19056734	19056734	+1	no_errors	ENST00000304381	ensembl	human	known	69_37n	silent	80	20.79	21	SNP	1.000	A
TMC7	79905	genome.wustl.edu	37	16	19067985	19067985	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:19067985G>C	ENST00000304381.5	+	14	2123	c.1993G>C	c.(1993-1995)Gaa>Caa	p.E665Q	TMC7_ENST00000421369.3_Missense_Mutation_p.E555Q|TMC7_ENST00000569532.1_Missense_Mutation_p.E665Q	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	665					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						TGTCACATCCGAAGCCTTTGC	0.567																																						dbGAP											0													153.0	129.0	137.0					16																	19067985		2197	4300	6497	-	-	-	SO:0001583	missense	0			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.1993G>C	16.37:g.19067985G>C	ENSP00000304710:p.Glu665Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Missense_Mutation	SNP	pfam_TMC	p.E665Q	ENST00000304381.5	37	c.1993	CCDS10573.1	16	.	.	.	.	.	.	.	.	.	.	G	13.92	2.380349	0.42207	.	.	ENSG00000170537	ENST00000304381;ENST00000421369	T;T	0.72942	-0.62;-0.7	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.63803	0.2542	L	0.28192	0.835	0.58432	D	0.999999	B;B	0.25743	0.133;0.133	B;B	0.32289	0.143;0.143	T	0.56842	-0.7912	10	0.23302	T	0.38	.	20.063	0.97692	0.0:0.0:1.0:0.0	.	665;665	Q7Z402;B3KSZ3	TMC7_HUMAN;.	Q	665;555	ENSP00000304710:E665Q;ENSP00000397081:E555Q	ENSP00000304710:E665Q	E	+	1	0	TMC7	18975486	1.000000	0.71417	0.940000	0.37924	0.247000	0.25773	6.931000	0.75863	2.741000	0.93983	0.650000	0.86243	GAA	TMC7	-	NULL	ENSG00000170537		0.567	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC7	HGNC	protein_coding	OTTHUMT00000254276.3	69	0.00	0	G	NM_024847		19067985	19067985	+1	no_errors	ENST00000304381	ensembl	human	known	69_37n	missense	62	20.51	16	SNP	1.000	C
TMCC3	57458	genome.wustl.edu	37	12	94965322	94965322	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:94965322C>G	ENST00000261226.4	-	4	1454	c.1323G>C	c.(1321-1323)aaG>aaC	p.K441N	TMCC3_ENST00000551457.1_Missense_Mutation_p.K410N	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	441						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						GGCAGCGACTCTTCATCATGG	0.473																																						dbGAP											0													212.0	193.0	199.0					12																	94965322		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB032971	CCDS31877.1, CCDS73506.1	12q22	2005-01-21	2005-07-13			ENSG00000057704		"""Transmembrane and coiled-coil domain containing"""	29199	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 3"""			10574461	Standard	XM_005269039		Approved	KIAA1145	uc001tdj.2	Q9ULS5	OTTHUMG00000170225	ENST00000261226.4:c.1323G>C	12.37:g.94965322C>G	ENSP00000261226:p.Lys441Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IWB2	Missense_Mutation	SNP	pfam_Predicted_TM_coiled-coil_2	p.K441N	ENST00000261226.4	37	c.1323	CCDS31877.1	12	.	.	.	.	.	.	.	.	.	.	C	19.13	3.767189	0.69878	.	.	ENSG00000057704	ENST00000261226;ENST00000551457	T;T	0.50277	0.75;0.75	5.33	4.43	0.53597	.	0.100743	0.64402	D	0.000002	T	0.57975	0.2090	L	0.61218	1.895	0.54753	D	0.999989	D	0.60575	0.988	P	0.58266	0.836	T	0.59107	-0.7516	10	0.52906	T	0.07	-33.1992	10.5357	0.45002	0.0:0.8513:0.0:0.1487	.	441	Q9ULS5	TMCC3_HUMAN	N	441;410	ENSP00000261226:K441N;ENSP00000449888:K410N	ENSP00000261226:K441N	K	-	3	2	TMCC3	93489453	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.963000	0.40452	2.495000	0.84180	0.561000	0.74099	AAG	TMCC3	-	pfam_Predicted_TM_coiled-coil_2	ENSG00000057704		0.473	TMCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCC3	HGNC	protein_coding	OTTHUMT00000408113.1	91	0.00	0	C	NM_020698		94965322	94965322	-1	no_errors	ENST00000261226	ensembl	human	known	69_37n	missense	115	20.69	30	SNP	1.000	G
TMCO1	54499	genome.wustl.edu	37	1	165728769	165728769	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:165728769C>G	ENST00000392129.6	-	3	351	c.201G>C	c.(199-201)aaG>aaC	p.K67N	TMCO1_ENST00000464650.1_5'UTR|TMCO1_ENST00000367881.5_Missense_Mutation_p.K118N|TMCO1_ENST00000580248.1_5'UTR	NM_001256165.1|NM_019026.4	NP_001243094.1|NP_061899.2	Q9UM00	TMCO1_HUMAN	transmembrane and coiled-coil domains 1	67						endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					TACCTATTTTCTTTTTCTGTT	0.254																																						dbGAP											0													103.0	100.0	101.0					1																	165728769		2203	4299	6502	-	-	-	SO:0001583	missense	0			AB020980	CCDS1251.1, CCDS1251.2	1q22-q25	2008-02-05	2005-07-13	2005-07-13	ENSG00000143183	ENSG00000143183			18188	protein-coding gene	gene with protein product		614123	"""transmembrane and coiled-coil domains 4"""	TMCC4		8619474, 9110174	Standard	NM_019026		Approved	HP10122	uc001gdj.5	Q9UM00	OTTHUMG00000034672	ENST00000392129.6:c.201G>C	1.37:g.165728769C>G	ENSP00000375975:p.Lys67Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2REA0|O75545|Q9BZS3|Q9BZU8	Missense_Mutation	SNP	pfam_DUF106_TM	p.K118N	ENST00000392129.6	37	c.354		1	.	.	.	.	.	.	.	.	.	.	C	16.86	3.238557	0.58886	.	.	ENSG00000143183	ENST00000367881	.	.	.	5.01	4.06	0.47325	.	0.044974	0.85682	D	0.000000	T	0.69833	0.3155	M	0.90814	3.15	0.49915	D	0.999839	D;D	0.63046	0.992;0.992	D;D	0.72625	0.978;0.958	T	0.75227	-0.3392	8	0.87932	D	0	.	6.4875	0.22097	0.1806:0.7267:0.0:0.0927	.	55;67	B7Z591;Q9UM00	.;TMCO1_HUMAN	N	67	.	ENSP00000356856:K67N	K	-	3	2	TMCO1	163995393	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	2.555000	0.45854	2.315000	0.78130	0.462000	0.41574	AAG	TMCO1	-	pfam_DUF106_TM	ENSG00000143183		0.254	TMCO1-008	KNOWN	basic|appris_principal	protein_coding	TMCO1	HGNC	protein_coding	OTTHUMT00000467850.1	227	0.00	0	C	NM_019026		165728769	165728769	-1	no_errors	ENST00000367881	ensembl	human	known	69_37n	missense	243	13.83	39	SNP	1.000	G
TANGO6	79613	genome.wustl.edu	37	16	69056788	69056788	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:69056788G>C	ENST00000261778.1	+	16	2912	c.2900G>C	c.(2899-2901)aGa>aCa	p.R967T		NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	967						integral component of membrane (GO:0016021)											AGGGGAGTGAGAGATCCTGAT	0.507																																						dbGAP											0													45.0	44.0	44.0					16																	69056788		1910	4141	6051	-	-	-	SO:0001583	missense	0				CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 7"""	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.2900G>C	16.37:g.69056788G>C	ENSP00000261778:p.Arg967Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q569F9|Q9H9K1	Missense_Mutation	SNP	pfam_DUF2411,superfamily_ARM-type_fold	p.R967T	ENST00000261778.1	37	c.2900	CCDS45516.1	16	.	.	.	.	.	.	.	.	.	.	G	10.28	1.307647	0.23821	.	.	ENSG00000103047	ENST00000261778	T	0.64991	-0.13	4.31	0.6	0.17524	Armadillo-like helical (1);Armadillo-type fold (1);	0.271361	0.38381	N	0.001705	T	0.53465	0.1798	M	0.70595	2.14	0.43896	D	0.996523	B	0.21606	0.058	B	0.20767	0.031	T	0.42447	-0.9451	10	0.33940	T	0.23	-6.9276	5.8492	0.18683	0.609:0.0:0.391:0.0	.	967	Q9C0B7	TMCO7_HUMAN	T	967	ENSP00000261778:R967T	ENSP00000261778:R967T	R	+	2	0	TMCO7	67614289	0.613000	0.27009	0.707000	0.30419	0.352000	0.29268	0.776000	0.26704	0.259000	0.21709	0.442000	0.29010	AGA	TMCO7	-	superfamily_ARM-type_fold	ENSG00000103047		0.507	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCO7	HGNC	protein_coding	OTTHUMT00000433471.2	76	0.00	0	G	XM_928235.2		69056788	69056788	+1	no_errors	ENST00000261778	ensembl	human	known	69_37n	missense	50	45.65	42	SNP	0.981	C
TMEM131	23505	genome.wustl.edu	37	2	98421887	98421887	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:98421887G>C	ENST00000186436.5	-	21	2464	c.2236C>G	c.(2236-2238)Cta>Gta	p.L746V		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	746						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						CCACACTGTAGTCCAGGATCA	0.408																																						dbGAP											0													63.0	63.0	63.0					2																	98421887		1901	4127	6028	-	-	-	SO:0001583	missense	0			AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.2236C>G	2.37:g.98421887G>C	ENSP00000186436:p.Leu746Val	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_DUF3651_TMEM131	p.L746V	ENST00000186436.5	37	c.2236	CCDS46368.1	2	.	.	.	.	.	.	.	.	.	.	G	16.94	3.260301	0.59431	.	.	ENSG00000075568	ENST00000186436	T	0.30981	1.51	5.97	3.96	0.45880	.	0.000000	0.85682	D	0.000000	T	0.43010	0.1228	L	0.59436	1.845	0.80722	D	1	D	0.69078	0.997	D	0.78314	0.991	T	0.36383	-0.9750	10	0.30078	T	0.28	-7.9435	4.3471	0.11138	0.4301:0.0:0.5699:0.0	.	746	Q92545	TM131_HUMAN	V	746	ENSP00000186436:L746V	ENSP00000186436:L746V	L	-	1	2	TMEM131	97788319	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.316000	0.59178	1.538000	0.49270	0.655000	0.94253	CTA	TMEM131	-	NULL	ENSG00000075568		0.408	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM131	HGNC	protein_coding	OTTHUMT00000329285.2	61	0.00	0	G	XM_371542		98421887	98421887	-1	no_errors	ENST00000186436	ensembl	human	known	69_37n	missense	54	18.18	12	SNP	1.000	C
TMEM132A	54972	genome.wustl.edu	37	11	60694793	60694793	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:60694793C>G	ENST00000453848.2	+	2	376	c.218C>G	c.(217-219)tCt>tGt	p.S73C	TMEM132A_ENST00000005286.4_Missense_Mutation_p.S73C|RP11-881M11.4_ENST00000543907.1_RNA			Q24JP5	T132A_HUMAN	transmembrane protein 132A	73						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						GCCAACTCCTCTCTGAGCTCC	0.642																																						dbGAP											0													55.0	61.0	59.0					11																	60694793		2203	4299	6502	-	-	-	SO:0001583	missense	0			AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"""heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"""	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.218C>G	11.37:g.60694793C>G	ENSP00000405823:p.Ser73Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Missense_Mutation	SNP	NULL	p.S73C	ENST00000453848.2	37	c.218	CCDS44618.1	11	.	.	.	.	.	.	.	.	.	.	C	20.2	3.958413	0.74016	.	.	ENSG00000006118	ENST00000453848;ENST00000005286	T;T	0.11063	2.82;2.81	4.69	4.69	0.59074	.	0.385759	0.22661	N	0.057198	T	0.32255	0.0823	M	0.76727	2.345	0.33781	D	0.624272	D;D;D	0.76494	0.999;0.988;0.988	D;P;P	0.65874	0.939;0.8;0.8	T	0.48875	-0.8996	10	0.87932	D	0	.	15.8062	0.78513	0.0:1.0:0.0:0.0	.	62;73;73	Q24JP5-3;Q24JP5;Q24JP5-2	.;T132A_HUMAN;.	C	73	ENSP00000405823:S73C;ENSP00000005286:S73C	ENSP00000005286:S73C	S	+	2	0	TMEM132A	60451369	0.975000	0.34042	0.987000	0.45799	0.988000	0.76386	3.267000	0.51577	2.328000	0.79073	0.462000	0.41574	TCT	TMEM132A	-	NULL	ENSG00000006118		0.642	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	TMEM132A	HGNC	protein_coding	OTTHUMT00000396352.1	37	0.00	0	C	NM_017870		60694793	60694793	+1	no_errors	ENST00000005286	ensembl	human	known	69_37n	missense	22	21.43	6	SNP	0.984	G
TMEM140	55281	genome.wustl.edu	37	7	134849412	134849412	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:134849412G>C	ENST00000275767.3	+	2	442	c.219G>C	c.(217-219)ctG>ctC	p.L73L	C7orf49_ENST00000459937.1_Intron	NM_018295.3	NP_060765.4	Q9NV12	TM140_HUMAN	transmembrane protein 140	73						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(2)	5						TGGAAGCCCTGGGGGTGCCTC	0.627																																						dbGAP											0													74.0	77.0	76.0					7																	134849412		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK001862	CCDS5837.1	7q33	2006-03-17			ENSG00000146859	ENSG00000146859			21870	protein-coding gene	gene with protein product							Standard	NM_018295		Approved	FLJ11000	uc003vsi.3	Q9NV12	OTTHUMG00000155413	ENST00000275767.3:c.219G>C	7.37:g.134849412G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1P9|Q8WUC3	Silent	SNP	NULL	p.L73	ENST00000275767.3	37	c.219	CCDS5837.1	7																																																																																			TMEM140	-	NULL	ENSG00000146859		0.627	TMEM140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM140	HGNC	protein_coding	OTTHUMT00000340017.2	51	0.00	0	G	NM_018295		134849412	134849412	+1	no_errors	ENST00000275767	ensembl	human	known	69_37n	silent	49	37.18	29	SNP	0.939	C
TMEM165	55858	genome.wustl.edu	37	4	56291609	56291609	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:56291609C>G	ENST00000381334.5	+	6	1198	c.965C>G	c.(964-966)tCt>tGt	p.S322C	TMEM165_ENST00000514904.1_3'UTR|TMEM165_ENST00000506198.1_Missense_Mutation_p.S127C|TMEM165_ENST00000542052.1_Missense_Mutation_p.S259C	NM_018475.4	NP_060945.2	Q9HC07	TM165_HUMAN	transmembrane protein 165	322					cellular calcium ion homeostasis (GO:0006874)|Golgi calcium ion transport (GO:0032472)|protein N-linked glycosylation (GO:0006487)|regulation of lysosomal lumen pH (GO:0035751)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)				endometrium(1)|kidney(1)|large_intestine(2)	4	Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103)			AGCCCTGATTCTGGTTTTTAA	0.313																																						dbGAP											0													201.0	189.0	193.0					4																	56291609		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF183409	CCDS3499.1	4q12	2014-03-13			ENSG00000134851	ENSG00000134851			30760	protein-coding gene	gene with protein product	"""TPA regulated locus"""	614726				3202867, 22683087, 23575229	Standard	NM_018475		Approved	TMPT27, TPARL, GDT1	uc003hax.3	Q9HC07	OTTHUMG00000128735	ENST00000381334.5:c.965C>G	4.37:g.56291609C>G	ENSP00000370736:p.Ser322Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3P8|B4DHW1|Q9BTN9|Q9NZ34	Missense_Mutation	SNP	pfam_UPF0016	p.S322C	ENST00000381334.5	37	c.965	CCDS3499.1	4	.	.	.	.	.	.	.	.	.	.	C	21.2	4.109252	0.77096	.	.	ENSG00000134851	ENST00000381334;ENST00000506198;ENST00000542052	D;T;D	0.84146	-1.81;-1.19;-1.8	5.37	4.48	0.54585	.	0.290302	0.32671	N	0.005792	T	0.82226	0.4991	L	0.42245	1.32	0.46044	D	0.998832	P;D	0.55800	0.771;0.973	B;B	0.43916	0.28;0.436	D	0.85298	0.1071	10	0.72032	D	0.01	-18.2527	16.0069	0.80370	0.1347:0.8653:0.0:0.0	.	259;322	B4DHW1;Q9HC07	.;TM165_HUMAN	C	322;127;259	ENSP00000370736:S322C;ENSP00000425449:S127C;ENSP00000437816:S259C	ENSP00000370736:S322C	S	+	2	0	TMEM165	55986366	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.940000	0.56599	2.683000	0.91414	0.557000	0.71058	TCT	TMEM165	-	NULL	ENSG00000134851		0.313	TMEM165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM165	HGNC	protein_coding	OTTHUMT00000250646.4	311	0.00	0	C	NM_018475		56291609	56291609	+1	no_errors	ENST00000381334	ensembl	human	known	69_37n	missense	264	23.70	82	SNP	1.000	G
TMEM150C	441027	genome.wustl.edu	37	4	83406675	83406675	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:83406675C>T	ENST00000515780.2	-	8	943	c.739G>A	c.(739-741)Gac>Aac	p.D247N	TMEM150C_ENST00000449862.2_Missense_Mutation_p.D247N			B9EJG8	T150C_HUMAN	transmembrane protein 150C	247						integral component of membrane (GO:0016021)				ovary(1)	1						TACACCTGGTCAGTCTGATAT	0.493																																						dbGAP											0													45.0	44.0	44.0					4																	83406675		1907	4115	6022	-	-	-	SO:0001583	missense	0			BC147027	CCDS47087.1	4q21.22	2010-06-25			ENSG00000249242	ENSG00000249242			37263	protein-coding gene	gene with protein product							Standard	NM_001080506		Approved	FLJ12993	uc003hmy.1	B9EJG8	OTTHUMG00000161083	ENST00000515780.2:c.739G>A	4.37:g.83406675C>T	ENSP00000420919:p.Asp247Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z4J5|B7Z4L3|B7Z692|B7Z6X6	Missense_Mutation	SNP	pfam_Frag1/DRAM/Sfk1	p.D247N	ENST00000515780.2	37	c.739	CCDS47087.1	4	.	.	.	.	.	.	.	.	.	.	C	23.9	4.468190	0.84533	.	.	ENSG00000249242	ENST00000449862;ENST00000515780	T;T	0.52057	0.68;0.68	5.28	5.28	0.74379	.	.	.	.	.	T	0.56171	0.1967	N	0.19112	0.55	0.80722	D	1	D	0.63880	0.993	D	0.72338	0.977	T	0.60722	-0.7207	9	0.54805	T	0.06	-9.0941	18.9045	0.92455	0.0:1.0:0.0:0.0	.	247	B9EJG8	T150C_HUMAN	N	247	ENSP00000403438:D247N;ENSP00000420919:D247N	ENSP00000403438:D247N	D	-	1	0	TMEM150C	83625699	1.000000	0.71417	0.998000	0.56505	0.507000	0.33981	4.994000	0.63901	2.446000	0.82766	0.462000	0.41574	GAC	TMEM150C	-	NULL	ENSG00000249242		0.493	TMEM150C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM150C	HGNC	protein_coding	OTTHUMT00000363685.2	51	0.00	0	C	NM_001080506		83406675	83406675	-1	no_errors	ENST00000449862	ensembl	human	known	69_37n	missense	37	33.93	19	SNP	1.000	T
TMEM169	92691	genome.wustl.edu	37	2	216960800	216960800	+	Silent	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:216960800G>T	ENST00000295658.4	+	2	321	c.114G>T	c.(112-114)ggG>ggT	p.G38G	TMEM169_ENST00000454545.1_Silent_p.G38G|TMEM169_ENST00000437356.2_Silent_p.G38G|TMEM169_ENST00000406027.2_Silent_p.G38G	NM_001142311.1|NM_001142312.1|NM_138390.3	NP_001135783.1|NP_001135784.1|NP_612399.1	Q96HH4	TM169_HUMAN	transmembrane protein 169	38						integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)	13		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCACAATGGGGCACAGGAAAA	0.562																																						dbGAP											0													63.0	64.0	64.0					2																	216960800		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK091582	CCDS2401.1	2q35	2008-02-05			ENSG00000163449	ENSG00000163449			25130	protein-coding gene	gene with protein product						12477932	Standard	NM_001142310		Approved	FLJ34263	uc002vfv.4	Q96HH4	OTTHUMG00000133053	ENST00000295658.4:c.114G>T	2.37:g.216960800G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8W6	Silent	SNP	NULL	p.G38	ENST00000295658.4	37	c.114	CCDS2401.1	2																																																																																			TMEM169	-	NULL	ENSG00000163449		0.562	TMEM169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM169	HGNC	protein_coding	OTTHUMT00000256666.2	44	0.00	0	G	NM_138390		216960800	216960800	+1	no_errors	ENST00000295658	ensembl	human	known	69_37n	silent	59	15.71	11	SNP	0.983	T
TMEM179B	374395	genome.wustl.edu	37	11	62554930	62554930	+	Silent	SNP	C	C	T	rs566843244		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:62554930C>T	ENST00000333449.4	+	1	32	c.27C>T	c.(25-27)gtC>gtT	p.V9V	TMEM179B_ENST00000533861.1_Silent_p.V9V|RP11-727F15.12_ENST00000601484.1_RNA|TMEM223_ENST00000527073.1_Intron	NM_199337.2	NP_955369.1	Q7Z7N9	T179B_HUMAN	transmembrane protein 179B	9						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)|liver(1)|lung(1)	4						TGCAGCGCGTCGAGCTTGCGC	0.736											OREG0021030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0.0	0.0	5008	,	,		14370	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													6.0	7.0	7.0					11																	62554930		2146	4206	6352	-	-	-	SO:0001819	synonymous_variant	0			BC051355	CCDS8036.1	11q12.3	2007-11-26			ENSG00000185475	ENSG00000185475			33744	protein-coding gene	gene with protein product							Standard	NM_199337		Approved		uc001nvd.4	Q7Z7N9	OTTHUMG00000167611	ENST00000333449.4:c.27C>T	11.37:g.62554930C>T		Somatic	1062	WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.V9	ENST00000333449.4	37	c.27	CCDS8036.1	11																																																																																			TMEM179B	-	NULL	ENSG00000185475		0.736	TMEM179B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM179B	HGNC	protein_coding	OTTHUMT00000395362.2	15	0.00	0	C	NM_199337		62554930	62554930	+1	no_errors	ENST00000333449	ensembl	human	known	69_37n	silent	3	62.50	5	SNP	0.108	T
TMEM187	8269	genome.wustl.edu	37	X	153247681	153247681	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:153247681C>G	ENST00000369982.4	+	2	915	c.168C>G	c.(166-168)ttC>ttG	p.F56L	MIR3202-1_ENST00000580198.1_RNA	NM_003492.2	NP_003483.1	Q14656	TM187_HUMAN	transmembrane protein 187	56						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|large_intestine(1)|lung(1)|prostate(2)	5	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)					CCATGCCGTTCAACTCACTCG	0.647																																						dbGAP											0													50.0	51.0	51.0					X																	153247681		2203	4300	6503	-	-	-	SO:0001583	missense	0			X92475	CCDS14739.1	Xq28	2007-03-14	2007-03-14	2007-03-14	ENSG00000177854	ENSG00000177854			13705	protein-coding gene	gene with protein product		300059	"""chromosome X open reading frame 12"""	CXorf12		8661027	Standard	NM_003492		Approved	ITBA1, DXS9878E	uc004fjq.2	Q14656	OTTHUMG00000024220	ENST00000369982.4:c.168C>G	X.37:g.153247681C>G	ENSP00000358999:p.Phe56Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RC47|Q6IAV7	Missense_Mutation	SNP	NULL	p.F56L	ENST00000369982.4	37	c.168	CCDS14739.1	X	.	.	.	.	.	.	.	.	.	.	C	11.16	1.556630	0.27827	.	.	ENSG00000177854	ENST00000369982;ENST00000425274	T;T	0.26518	1.73;1.73	4.13	2.31	0.28768	.	0.000000	0.45361	U	0.000365	T	0.22322	0.0538	M	0.79475	2.455	0.30697	N	0.750694	P	0.40731	0.728	B	0.30401	0.115	T	0.21008	-1.0258	10	0.36615	T	0.2	.	7.3645	0.26766	0.0:0.6938:0.0:0.3062	.	56	Q14656	TM187_HUMAN	L	56	ENSP00000358999:F56L;ENSP00000390108:F56L	ENSP00000358999:F56L	F	+	3	2	TMEM187	152900875	0.970000	0.33590	0.997000	0.53966	0.073000	0.16967	0.317000	0.19487	0.600000	0.29862	0.436000	0.28706	TTC	TMEM187	-	NULL	ENSG00000177854		0.647	TMEM187-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM187	HGNC	protein_coding	OTTHUMT00000061093.1	18	0.00	0	C	NM_003492		153247681	153247681	+1	no_errors	ENST00000369982	ensembl	human	known	69_37n	missense	19	32.14	9	SNP	0.989	G
TMEM2	23670	genome.wustl.edu	37	9	74365110	74365110	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:74365110G>A	ENST00000377044.4	-	2	719	c.180C>T	c.(178-180)ttC>ttT	p.F60F	TMEM2_ENST00000377066.5_Silent_p.F60F	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	60					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		GTGAGAATGCGAAGGTTGCCC	0.443																																						dbGAP											0													142.0	131.0	134.0					9																	74365110		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.180C>T	9.37:g.74365110G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Silent	SNP	pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence	p.F60	ENST00000377044.4	37	c.180	CCDS6638.1	9																																																																																			TMEM2	-	NULL	ENSG00000135048		0.443	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM2	HGNC	protein_coding	OTTHUMT00000052618.2	164	0.61	1	G	NM_013390		74365110	74365110	-1	no_errors	ENST00000377044	ensembl	human	known	69_37n	silent	122	32.60	59	SNP	0.403	A
TMEM200B	399474	genome.wustl.edu	37	1	29447470	29447470	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:29447470G>C	ENST00000420504.2	-	2	1028	c.871C>G	c.(871-873)Ctt>Gtt	p.L291V	TMEM200B_ENST00000521452.1_Missense_Mutation_p.L291V	NM_001171868.1	NP_001165339.1	Q69YZ2	T200B_HUMAN	transmembrane protein 200B	291						integral component of membrane (GO:0016021)				ovary(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.00765)|Lung NSC(340;0.0153)|all_lung(284;0.0173)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;7.32e-08)|COAD - Colon adenocarcinoma(152;4.92e-06)|STAD - Stomach adenocarcinoma(196;0.00618)|BRCA - Breast invasive adenocarcinoma(304;0.0501)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.126)		TAGCCCCCAAGACTGAGGCGG	0.642																																						dbGAP											0													19.0	20.0	20.0					1																	29447470		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS30658.1	1p35	2007-12-18			ENSG00000253304	ENSG00000253304			33785	protein-coding gene	gene with protein product						15722956	Standard	NM_001003682		Approved	TTMB	uc001brn.2	Q69YZ2	OTTHUMG00000003658	ENST00000420504.2:c.871C>G	1.37:g.29447470G>C	ENSP00000428544:p.Leu291Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P2G8|Q6P2Q5	Missense_Mutation	SNP	pfam_DUF2371_TMEM200	p.L291V	ENST00000420504.2	37	c.871	CCDS30658.1	1	.	.	.	.	.	.	.	.	.	.	G	12.21	1.870103	0.33069	.	.	ENSG00000253304	ENST00000521452;ENST00000420504	.	.	.	4.26	3.33	0.38152	.	0.514587	0.14526	U	0.314148	T	0.16342	0.0393	N	0.14661	0.345	0.25530	N	0.987281	P	0.47762	0.9	B	0.38954	0.286	T	0.06338	-1.0832	9	0.62326	D	0.03	.	6.8398	0.23957	0.1017:0.178:0.7203:0.0	.	291	Q69YZ2	T200B_HUMAN	V	291	.	ENSP00000428544:L291V	L	-	1	0	TMEM200B	29320057	0.594000	0.26849	1.000000	0.80357	0.977000	0.68977	1.099000	0.31013	1.097000	0.41459	0.655000	0.94253	CTT	TMEM200B	-	NULL	ENSG00000253304		0.642	TMEM200B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMEM200B	HGNC	protein_coding	OTTHUMT00000010377.2	15	0.00	0	G	NM_001003682		29447470	29447470	-1	no_errors	ENST00000420504	ensembl	human	known	69_37n	missense	9	35.71	5	SNP	0.981	C
TMEM200C	645369	genome.wustl.edu	37	18	5890387	5890387	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr18:5890387C>T	ENST00000581347.2	-	3	2321	c.1676G>A	c.(1675-1677)cGa>cAa	p.R559Q	RP11-945C19.4_ENST00000580845.1_RNA|RP11-945C19.4_ENST00000577694.1_RNA|TMEM200C_ENST00000383490.2_Missense_Mutation_p.R559Q|RP11-945C19.4_ENST00000582939.1_RNA			A6NKL6	T200C_HUMAN	transmembrane protein 200C	559						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						AGCAGAGTCTCGCGTTTGACC	0.677																																						dbGAP											0													24.0	28.0	27.0					18																	5890387		1916	4109	6025	-	-	-	SO:0001583	missense	0				CCDS45825.1	18p11.31	2009-09-08			ENSG00000206432	ENSG00000206432			37208	protein-coding gene	gene with protein product						15722956	Standard	NM_001080209		Approved	TTMA	uc002kmx.1	A6NKL6		ENST00000581347.2:c.1676G>A	18.37:g.5890387C>T	ENSP00000463375:p.Arg559Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_DUF2371_TMEM200	p.R559Q	ENST00000581347.2	37	c.1676	CCDS45825.1	18	.	.	.	.	.	.	.	.	.	.	C	11.11	1.542050	0.27563	.	.	ENSG00000206432	ENST00000383490	.	.	.	4.62	-9.25	0.00666	.	.	.	.	.	T	0.17023	0.0409	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24799	-1.0150	8	0.22109	T	0.4	.	8.8964	0.35467	0.0855:0.1181:0.6216:0.1747	.	559	A6NKL6	T200C_HUMAN	Q	559	.	ENSP00000372982:R559Q	R	-	2	0	TMEM200C	5880387	0.001000	0.12720	0.000000	0.03702	0.006000	0.05464	-0.782000	0.04643	-3.032000	0.00266	-1.240000	0.01540	CGA	TMEM200C	-	NULL	ENSG00000206432		0.677	TMEM200C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM200C	HGNC	protein_coding	OTTHUMT00000441917.4	26	0.00	0	C	NM_001080209		5890387	5890387	-1	no_errors	ENST00000383490	ensembl	human	known	69_37n	missense	16	33.33	8	SNP	0.000	T
TMEM204	79652	genome.wustl.edu	37	16	1584286	1584286	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:1584286C>T	ENST00000566264.1	+	1	713	c.10C>T	c.(10-12)Cag>Tag	p.Q4*	IFT140_ENST00000361339.5_5'Flank|IFT140_ENST00000426508.2_Intron|TMEM204_ENST00000253934.5_Nonsense_Mutation_p.Q4*	NM_024600.5	NP_078876.2	Q9BSN7	TM204_HUMAN	transmembrane protein 204	4					lymph vessel development (GO:0001945)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|response to stress (GO:0006950)|smooth muscle cell differentiation (GO:0051145)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|cervix(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Hepatocellular(780;0.219)				GATGACCGTGCAGAGACTCGT	0.677																																						dbGAP											0													32.0	39.0	36.0					16																	1584286		2133	4243	6376	-	-	-	SO:0001587	stop_gained	0				CCDS42098.1	16p13.3	2008-02-05	2008-01-08	2008-01-08		ENSG00000131634			14158	protein-coding gene	gene with protein product		611002	"""chromosome 16 open reading frame 30"""	C16orf30			Standard	NM_024600		Approved	FLJ20898	uc002cmc.3	Q9BSN7		ENST00000566264.1:c.10C>T	16.37:g.1584286C>T	ENSP00000454945:p.Gln4*	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DU76|Q3KRC1|Q9H7G5	Nonsense_Mutation	SNP	NULL	p.Q4*	ENST00000566264.1	37	c.10	CCDS42098.1	16	.	.	.	.	.	.	.	.	.	.	C	40	8.499829	0.98838	.	.	ENSG00000131634	ENST00000253934	.	.	.	5.29	4.33	0.51752	.	0.252002	0.42294	D	0.000735	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-6.9324	15.2763	0.73745	0.1414:0.8586:0.0:0.0	.	.	.	.	X	4	.	ENSP00000253934:Q4X	Q	+	1	0	TMEM204	1524287	1.000000	0.71417	0.344000	0.25628	0.037000	0.13140	2.894000	0.48640	1.198000	0.43158	0.655000	0.94253	CAG	TMEM204	-	NULL	ENSG00000131634		0.677	TMEM204-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMEM204	HGNC	protein_coding	OTTHUMT00000432610.1	14	0.00	0	C	NM_024600		1584286	1584286	+1	no_errors	ENST00000253934	ensembl	human	known	69_37n	nonsense	12	42.86	9	SNP	1.000	T
TMEM235	283999	genome.wustl.edu	37	17	76235275	76235275	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:76235275C>T	ENST00000551068.3	+	4	701	c.580C>T	c.(580-582)Ctc>Ttc	p.L194F	TMEM235_ENST00000421688.1_Missense_Mutation_p.P304L|TMEM235_ENST00000374946.3_Missense_Mutation_p.L167F|TMEM235_ENST00000550981.3_Missense_Mutation_p.L167F|TMEM235_ENST00000586400.1_Missense_Mutation_p.L121F			A6NFC5	TM235_HUMAN	transmembrane protein 235	194						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			lung(1)	1						CAGCGGAACCCTCCTGCTCTC	0.662																																						dbGAP											0													27.0	35.0	33.0					17																	76235275		692	1591	2283	-	-	-	SO:0001583	missense	0			BC042066	CCDS56048.1, CCDS56046.1, CCDS56047.1	17q25.3	2011-02-18	2011-02-18	2011-02-18	ENSG00000204278	ENSG00000204278			27563	protein-coding gene	gene with protein product							Standard	NM_001204210		Approved		uc002jvk.3	A6NFC5		ENST00000551068.3:c.580C>T	17.37:g.76235275C>T	ENSP00000446514:p.Leu194Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JRE6	Missense_Mutation	SNP	NULL	p.P304L	ENST00000551068.3	37	c.911	CCDS56046.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.70|11.70	1.717103|1.717103	0.30413|0.30413	.|.	.|.	ENSG00000204278|ENSG00000204278	ENST00000543327;ENST00000374946;ENST00000551068;ENST00000550981|ENST00000421688;ENST00000547406	T;T;T|.	0.80738|.	-1.41;-1.41;-1.41|.	2.78|2.78	1.78|1.78	0.24846|0.24846	.|.	0.809496|.	0.10631|.	U|.	0.652159|.	T|T	0.55065|0.55065	0.1897|0.1897	M|M	0.71036|0.71036	2.16|2.16	0.30493|0.30493	N|N	0.771145|0.771145	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.59016|0.59016	-0.7533|-0.7533	8|6	0.54805|0.87932	T|D	0.06|0	.|.	8.9124|8.9124	0.35561|0.35561	0.2225:0.7775:0.0:0.0|0.2225:0.7775:0.0:0.0	.|.	.|.	.|.	.|.	F|L	121;167;194;167|304;225	ENSP00000364084:L167F;ENSP00000446514:L194F;ENSP00000447766:L167F|.	ENSP00000364084:L167F|ENSP00000402790:P304L	L|P	+|+	1|2	0|0	TMEM235|TMEM235	73746870|73746870	0.979000|0.979000	0.34478|0.34478	0.426000|0.426000	0.26672|0.26672	0.033000|0.033000	0.12548|0.12548	2.812000|2.812000	0.47994|0.47994	0.707000|0.707000	0.31934|0.31934	0.462000|0.462000	0.41574|0.41574	CTC|CCT	TMEM235	-	NULL	ENSG00000204278		0.662	TMEM235-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM235	HGNC	protein_coding	OTTHUMT00000408606.1	21	0.00	0	C	NM_001204211		76235275	76235275	+1	no_errors	ENST00000421688	ensembl	human	known	69_37n	missense	22	24.14	7	SNP	0.968	T
TMEM242	729515	genome.wustl.edu	37	6	157739819	157739819	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:157739819G>A	ENST00000400788.4	-	3	423	c.322C>T	c.(322-324)Cac>Tac	p.H108Y	TMEM242_ENST00000367144.4_Missense_Mutation_p.H108Y	NM_018452.4	NP_060922.2	Q9NWH2	TM242_HUMAN	transmembrane protein 242	108						integral component of membrane (GO:0016021)											CTTACACTGTGAACTCCTAAA	0.448																																						dbGAP											0													158.0	168.0	164.0					6																	157739819		1957	4129	6086	-	-	-	SO:0001583	missense	0			AF217510	CCDS43519.1	6q25.3	2011-11-25	2011-11-25	2011-11-25	ENSG00000215712	ENSG00000215712			17206	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 35"""	C6orf35			Standard	NM_018452		Approved	BM033	uc003sih.4	Q9NWH2	OTTHUMG00000015893	ENST00000400788.4:c.322C>T	6.37:g.157739819G>A	ENSP00000383594:p.His108Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EJD0|Q9NZ88|Q9P094	Missense_Mutation	SNP	pfam_DUF1358	p.H108Y	ENST00000400788.4	37	c.322	CCDS43519.1	6	.	.	.	.	.	.	.	.	.	.	G	23.2	4.384965	0.82792	.	.	ENSG00000215712	ENST00000400788;ENST00000367144	.	.	.	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.73353	0.3576	M	0.78637	2.42	0.42338	D	0.992322	D	0.76494	0.999	D	0.71184	0.972	T	0.75739	-0.3212	9	0.62326	D	0.03	-4.6655	18.1859	0.89792	0.0:0.0:1.0:0.0	.	108	Q9NWH2	CF035_HUMAN	Y	108	.	ENSP00000356112:H108Y	H	-	1	0	C6orf35	157659807	1.000000	0.71417	0.995000	0.50966	0.958000	0.62258	8.677000	0.91203	-0.289000	0.09038	0.402000	0.26972	CAC	TMEM242	-	pfam_DUF1358	ENSG00000215712		0.448	TMEM242-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM242	HGNC	protein_coding	OTTHUMT00000042837.2	79	0.00	0	G			157739819	157739819	-1	no_errors	ENST00000400788	ensembl	human	known	69_37n	missense	62	24.39	20	SNP	0.992	A
TMEM252	169693	genome.wustl.edu	37	9	71152332	71152332	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:71152332G>C	ENST00000377311.3	-	2	408	c.356C>G	c.(355-357)tCt>tGt	p.S119C		NM_153237.1	NP_694969.1	Q8N6L7	TM252_HUMAN	transmembrane protein 252	119						integral component of membrane (GO:0016021)											AGGAATGCCAGAGGCCTCTCT	0.522																																						dbGAP											0													61.0	64.0	63.0					9																	71152332		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC029780	CCDS35040.1	9q21.13	2012-07-19	2012-07-19	2012-07-19	ENSG00000181778	ENSG00000181778			28537	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 71"""	C9orf71		12477932	Standard	NM_153237		Approved	MGC34760	uc004agt.3	Q8N6L7	OTTHUMG00000019967	ENST00000377311.3:c.356C>G	9.37:g.71152332G>C	ENSP00000366528:p.Ser119Cys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.S119C	ENST00000377311.3	37	c.356	CCDS35040.1	9	.	.	.	.	.	.	.	.	.	.	G	14.23	2.472327	0.43942	.	.	ENSG00000181778	ENST00000377311	.	.	.	5.81	-1.03	0.10102	.	1.751030	0.03092	N	0.159881	T	0.35038	0.0918	L	0.51422	1.61	0.09310	N	1	B	0.17667	0.023	B	0.17098	0.017	T	0.28713	-1.0035	9	0.59425	D	0.04	1.0E-4	1.5127	0.02499	0.3802:0.2349:0.2669:0.118	.	119	Q8N6L7	CI071_HUMAN	C	119	.	ENSP00000366528:S119C	S	-	2	0	C9orf71	70342152	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-0.431000	0.06965	-0.057000	0.13199	-0.176000	0.13171	TCT	TMEM252	-	NULL	ENSG00000181778		0.522	TMEM252-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM252	HGNC	protein_coding	OTTHUMT00000052551.1	65	0.00	0	G	NM_153237		71152332	71152332	-1	no_errors	ENST00000377311	ensembl	human	known	69_37n	missense	59	46.36	51	SNP	0.000	C
TMEM35	59353	genome.wustl.edu	37	X	100349772	100349772	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:100349772C>G	ENST00000372930.4	+	2	614	c.331C>G	c.(331-333)Cct>Gct	p.P111A	TMEM35_ENST00000478351.1_3'UTR|TRMT2B-AS1_ENST00000443801.2_RNA	NM_021637.2	NP_067650.1	Q53FP2	TMM35_HUMAN	transmembrane protein 35	111						cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|peroxisome (GO:0005777)				NS(1)|large_intestine(3)|liver(1)|skin(1)|urinary_tract(1)	7						GGTCGGTGATCCTCTCAAACG	0.567																																						dbGAP											0													232.0	170.0	191.0					X																	100349772		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK024146	CCDS14478.1	Xq22	2008-02-05			ENSG00000126950	ENSG00000126950			25864	protein-coding gene	gene with protein product							Standard	NM_021637		Approved	FLJ14084	uc004egw.3	Q53FP2	OTTHUMG00000022016	ENST00000372930.4:c.331C>G	X.37:g.100349772C>G	ENSP00000362021:p.Pro111Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H7Y3	Missense_Mutation	SNP	NULL	p.P111A	ENST00000372930.4	37	c.331	CCDS14478.1	X	.	.	.	.	.	.	.	.	.	.	C	22.2	4.257158	0.80246	.	.	ENSG00000126950	ENST00000372930;ENST00000444892	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.72779	0.3503	L	0.40543	1.245	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	T	0.71283	-0.4639	9	0.37606	T	0.19	-7.8323	18.3931	0.90490	0.0:1.0:0.0:0.0	.	111	Q53FP2	TMM35_HUMAN	A	111;70	.	ENSP00000362021:P111A	P	+	1	0	TMEM35	100236428	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.267000	0.78462	2.284000	0.76573	0.594000	0.82650	CCT	TMEM35	-	NULL	ENSG00000126950		0.567	TMEM35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM35	HGNC	protein_coding	OTTHUMT00000057508.1	125	0.00	0	C	NM_021637		100349772	100349772	+1	no_errors	ENST00000372930	ensembl	human	known	69_37n	missense	93	31.11	42	SNP	1.000	G
NDC1	55706	genome.wustl.edu	37	1	54233649	54233649	+	Missense_Mutation	SNP	T	T	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:54233649T>G	ENST00000371429.3	-	18	2617	c.2019A>C	c.(2017-2019)aaA>aaC	p.K673N	NDC1_ENST00000540001.1_3'UTR|NDC1_ENST00000537333.1_Missense_Mutation_p.K338N|NDC1_ENST00000234725.8_Missense_Mutation_p.K558N	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3	Q9BTX1	NDC1_HUMAN	NDC1 transmembrane nucleoporin	673					mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore distribution (GO:0031081)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)										TTAACTATTCTTTGAACTCCA	0.338																																						dbGAP											0													105.0	99.0	101.0					1																	54233649		2202	4300	6502	-	-	-	SO:0001583	missense	0			AL354613	CCDS583.1	1p32.3	2014-01-28	2013-05-23	2013-05-23	ENSG00000058804	ENSG00000058804			25525	protein-coding gene	gene with protein product	"""nuclear division cycle 1 homolog (S. cerevisiae)"""	610115	"""transmembrane protein 48"""	TMEM48		16779818, 12958361	Standard	NR_033142		Approved	FLJ10407, NET3		Q9BTX1	OTTHUMG00000008073	ENST00000371429.3:c.2019A>C	1.37:g.54233649T>G	ENSP00000360483:p.Lys673Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DHA3|B4DQQ5|G3XA81|Q8NB76|Q9H9T6|Q9NSG3|Q9NSG4|Q9NVZ7	Missense_Mutation	SNP	pfam_Nucleoporin_prot_Ndc1/Nup	p.K673N	ENST00000371429.3	37	c.2019	CCDS583.1	1	.	.	.	.	.	.	.	.	.	.	T	17.17	3.321830	0.60634	.	.	ENSG00000058804	ENST00000371429;ENST00000360494;ENST00000537333;ENST00000234725	T;T	0.57752	0.38;0.39	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.54334	0.1852	N	0.14661	0.345	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.992	T	0.60520	-0.7247	10	0.66056	D	0.02	.	10.0421	0.42164	0.0:0.0756:0.0:0.9244	.	633;673	B4DHA3;Q9BTX1	.;NDC1_HUMAN	N	673;556;338;558	ENSP00000360483:K673N;ENSP00000234725:K558N	ENSP00000234725:K558N	K	-	3	2	TMEM48	54006237	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.618000	0.46393	2.247000	0.74100	0.482000	0.46254	AAA	TMEM48	-	NULL	ENSG00000058804		0.338	NDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM48	HGNC	protein_coding	OTTHUMT00000022101.1	126	0.00	0	T	NM_018087		54233649	54233649	-1	no_errors	ENST00000371429	ensembl	human	known	69_37n	missense	85	22.52	25	SNP	1.000	G
TMEM57	55219	genome.wustl.edu	37	1	25812149	25812149	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:25812149C>T	ENST00000374343.4	+	8	1538	c.1359C>T	c.(1357-1359)atC>atT	p.I453I	TMEM57_ENST00000399766.3_Silent_p.I226I|TMEM57_ENST00000399763.3_Silent_p.I95I	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	453					brain development (GO:0007420)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|synapse (GO:0045202)				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		AGCAGAATATCAGCCAGTTGG	0.353																																						dbGAP											0													97.0	102.0	100.0					1																	25812149		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK001609	CCDS30638.1, CCDS60034.1	1p36.11	2008-02-05			ENSG00000204178	ENSG00000204178			25572	protein-coding gene	gene with protein product		610301				12459264, 15255972	Standard	XM_005245931		Approved	FLJ10747	uc001bkk.3	Q8N5G2	OTTHUMG00000003473	ENST00000374343.4:c.1359C>T	1.37:g.25812149C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AK00|Q2TLX5|Q2TLX6|Q9NVG6	Silent	SNP	pfam_Macoilin,superfamily_Prefoldin	p.I453	ENST00000374343.4	37	c.1359	CCDS30638.1	1																																																																																			TMEM57	-	pfam_Macoilin,superfamily_Prefoldin	ENSG00000204178		0.353	TMEM57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM57	HGNC	protein_coding	OTTHUMT00000009659.2	103	0.00	0	C	NM_018202		25812149	25812149	+1	no_errors	ENST00000374343	ensembl	human	known	69_37n	silent	73	18.89	17	SNP	1.000	T
TMEM56	148534	genome.wustl.edu	37	1	95609499	95609499	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:95609499C>G	ENST00000370203.4	+	2	333	c.42C>G	c.(40-42)atC>atG	p.I14M	TMEM56_ENST00000463375.1_3'UTR|RP11-57H12.6_ENST00000604534.1_Missense_Mutation_p.I14M	NM_001199679.1|NM_152487.2	NP_001186608.1|NP_689700.1	Q96MV1	TMM56_HUMAN	transmembrane protein 56	14						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	12		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.133)		TTACCTGTATCAGCTTTTTCA	0.338																																						dbGAP											0													124.0	123.0	124.0					1																	95609499		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS753.1	1p21.3	2008-02-05			ENSG00000152078	ENSG00000152078			26477	protein-coding gene	gene with protein product							Standard	NM_152487		Approved	FLJ31842	uc001drb.3	Q96MV1	OTTHUMG00000010847	ENST00000370203.4:c.42C>G	1.37:g.95609499C>G	ENSP00000359222:p.Ile14Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPI2|D3DT48	Missense_Mutation	SNP	pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom	p.I14M	ENST00000370203.4	37	c.42	CCDS753.1	1	.	.	.	.	.	.	.	.	.	.	C	11.21	1.572357	0.28092	.	.	ENSG00000152078	ENST00000370203;ENST00000456991;ENST00000455656	.	.	.	5.45	4.53	0.55603	.	0.606069	0.18509	N	0.139101	T	0.21631	0.0521	N	0.22421	0.69	0.09310	N	0.999995	B;B	0.22146	0.019;0.065	B;B	0.27608	0.05;0.081	T	0.07139	-1.0788	8	0.35671	T	0.21	-7.0E-4	10.2929	0.43608	0.153:0.6996:0.1474:0.0	.	14;14	C9JJM2;Q96MV1	.;TMM56_HUMAN	M	14	.	ENSP00000359222:I14M	I	+	3	3	TMEM56	95382087	0.940000	0.31905	0.932000	0.37286	0.641000	0.38312	0.840000	0.27600	1.278000	0.44430	0.650000	0.86243	ATC	TMEM56	-	NULL	ENSG00000152078		0.338	TMEM56-001	NOVEL	basic|appris_principal|CCDS	protein_coding	TMEM56	HGNC	protein_coding	OTTHUMT00000029935.1	182	0.00	0	C	NM_152487		95609499	95609499	+1	no_errors	ENST00000370203	ensembl	human	known	69_37n	missense	121	21.94	34	SNP	0.992	G
TMEM67	91147	genome.wustl.edu	37	8	94792877	94792877	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:94792877G>A	ENST00000453321.3	+	8	829	c.771G>A	c.(769-771)atG>atA	p.M257I	TMEM67_ENST00000409623.3_Missense_Mutation_p.M176I|TMEM67_ENST00000425545.2_3'UTR	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	257			M -> V (in COACHS). {ECO:0000269|PubMed:19574260}.		cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of centrosome duplication (GO:0010826)	centrosome (GO:0005813)|ciliary membrane (GO:0060170)|cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)	filamin binding (GO:0031005)|unfolded protein binding (GO:0051082)			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			TGATGAACATGAATTCTTACG	0.358																																						dbGAP											0													260.0	247.0	251.0					8																	94792877		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX648768	CCDS6258.2, CCDS47893.1	8q22.1	2014-09-17			ENSG00000164953	ENSG00000164953			28396	protein-coding gene	gene with protein product	"""Meckelin"""	609884	"""Meckel syndrome, type 3"""	MKS3		12384791, 16415887, 19508969	Standard	NM_153704		Approved	MGC26979, JBTS6, NPHP11	uc011lgk.2	Q5HYA8	OTTHUMG00000153119	ENST00000453321.3:c.771G>A	8.37:g.94792877G>A	ENSP00000389998:p.Met257Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KRU5|B3KT47|G5E9H2|Q3ZCX3|Q7Z5T8|Q8IZ06	Missense_Mutation	SNP	pfam_Meckelin,superfamily_Growth_fac_rcpt	p.M257I	ENST00000453321.3	37	c.771	CCDS6258.2	8	.	.	.	.	.	.	.	.	.	.	G	26.5	4.743245	0.89663	.	.	ENSG00000164953	ENST00000452276;ENST00000453321;ENST00000409623	D;D;D	0.97041	-4.22;-4.22;-4.22	5.86	5.86	0.93980	.	0.037832	0.85682	N	0.000000	D	0.96836	0.8967	M	0.69823	2.125	0.80722	D	1	P;P	0.44090	0.732;0.826	B;B	0.43331	0.416;0.39	D	0.96578	0.9428	10	0.49607	T	0.09	-20.7461	20.1874	0.98223	0.0:0.0:1.0:0.0	.	257;176	Q5HYA8;G5E9H2	MKS3_HUMAN;.	I	154;257;176	ENSP00000388671:M154I;ENSP00000389998:M257I;ENSP00000386966:M176I	ENSP00000314488:M247I	M	+	3	0	TMEM67	94862053	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.122000	0.94380	2.774000	0.95407	0.650000	0.86243	ATG	TMEM67	-	pfam_Meckelin	ENSG00000164953		0.358	TMEM67-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM67	HGNC	protein_coding	OTTHUMT00000329641.2	187	0.00	0	G	NM_153704		94792877	94792877	+1	no_errors	ENST00000453321	ensembl	human	known	69_37n	missense	171	17.79	37	SNP	1.000	A
TMEM67	91147	genome.wustl.edu	37	8	94822068	94822068	+	Missense_Mutation	SNP	T	T	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:94822068T>A	ENST00000453321.3	+	26	2775	c.2717T>A	c.(2716-2718)cTt>cAt	p.L906H	TMEM67_ENST00000409623.3_Missense_Mutation_p.L825H	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	906					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of centrosome duplication (GO:0010826)	centrosome (GO:0005813)|ciliary membrane (GO:0060170)|cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)	filamin binding (GO:0031005)|unfolded protein binding (GO:0051082)			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			GAAAGAATTCTTGGAATGGAA	0.299																																						dbGAP											0													47.0	52.0	50.0					8																	94822068		2202	4290	6492	-	-	-	SO:0001583	missense	0			BX648768	CCDS6258.2, CCDS47893.1	8q22.1	2014-09-17			ENSG00000164953	ENSG00000164953			28396	protein-coding gene	gene with protein product	"""Meckelin"""	609884	"""Meckel syndrome, type 3"""	MKS3		12384791, 16415887, 19508969	Standard	NM_153704		Approved	MGC26979, JBTS6, NPHP11	uc011lgk.2	Q5HYA8	OTTHUMG00000153119	ENST00000453321.3:c.2717T>A	8.37:g.94822068T>A	ENSP00000389998:p.Leu906His	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KRU5|B3KT47|G5E9H2|Q3ZCX3|Q7Z5T8|Q8IZ06	Missense_Mutation	SNP	pfam_Meckelin,superfamily_Growth_fac_rcpt	p.L906H	ENST00000453321.3	37	c.2717	CCDS6258.2	8	.	.	.	.	.	.	.	.	.	.	T	21.2	4.107705	0.77096	.	.	ENSG00000164953	ENST00000453321;ENST00000409623	D;D	0.98649	-5.05;-5.05	5.75	4.61	0.57282	.	0.240330	0.37219	N	0.002193	D	0.98937	0.9639	M	0.79693	2.465	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.985;0.99;0.983	D	0.99414	1.0931	10	0.87932	D	0	-18.634	11.6373	0.51211	0.0:0.0693:0.0:0.9307	.	906;825;825	Q5HYA8;B3KRU5;G5E9H2	MKS3_HUMAN;.;.	H	906;825	ENSP00000389998:L906H;ENSP00000386966:L825H	ENSP00000314488:L896H	L	+	2	0	TMEM67	94891244	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.624000	0.83124	1.024000	0.39682	0.377000	0.23210	CTT	TMEM67	-	pfam_Meckelin	ENSG00000164953		0.299	TMEM67-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM67	HGNC	protein_coding	OTTHUMT00000329641.2	55	0.00	0	T	NM_153704		94822068	94822068	+1	no_errors	ENST00000453321	ensembl	human	known	69_37n	missense	57	19.72	14	SNP	1.000	A
TMEM74B	55321	genome.wustl.edu	37	20	1162066	1162066	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:1162066G>A	ENST00000381894.3	-	2	868	c.197C>T	c.(196-198)tCa>tTa	p.S66L	TMEM74B_ENST00000481747.1_5'UTR	NM_018354.1	NP_060824.1	Q9NUR3	TM74B_HUMAN	transmembrane protein 74B	66						integral component of membrane (GO:0016021)											ATGCTCCTCTGAGGAGAAGCA	0.632																																						dbGAP											0													38.0	40.0	39.0					20																	1162066		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK002052	CCDS13011.1	20p13	2011-11-23	2011-11-23	2011-11-23	ENSG00000125895	ENSG00000125895			15893	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 46"""	C20orf46			Standard	XM_005260748		Approved	FLJ11190	uc002weq.1	Q9NUR3	OTTHUMG00000031655	ENST00000381894.3:c.197C>T	20.37:g.1162066G>A	ENSP00000371318:p.Ser66Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DVW5	Missense_Mutation	SNP	NULL	p.S66L	ENST00000381894.3	37	c.197	CCDS13011.1	20	.	.	.	.	.	.	.	.	.	.	G	10.78	1.446052	0.25987	.	.	ENSG00000125895	ENST00000381894;ENST00000429036	T;T	0.45668	0.9;0.89	4.05	0.678	0.17969	.	0.937914	0.08653	N	0.913646	T	0.30417	0.0764	L	0.44542	1.39	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.31833	-0.9929	10	0.46703	T	0.11	-19.0743	2.2185	0.03966	0.2021:0.1406:0.4983:0.159	.	66	Q9NUR3	CT046_HUMAN	L	66	ENSP00000371318:S66L;ENSP00000400552:S66L	ENSP00000371318:S66L	S	-	2	0	C20orf46	1110066	0.000000	0.05858	0.016000	0.15963	0.966000	0.64601	-0.100000	0.10990	0.370000	0.24538	0.563000	0.77884	TCA	TMEM74B	-	NULL	ENSG00000125895		0.632	TMEM74B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM74B	HGNC	protein_coding	OTTHUMT00000077496.2	30	0.00	0	G	NM_018354		1162066	1162066	-1	no_errors	ENST00000381894	ensembl	human	known	69_37n	missense	40	14.89	7	SNP	0.001	A
TMEM79	84283	genome.wustl.edu	37	1	156255195	156255195	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:156255195G>C	ENST00000405535.2	+	2	349	c.178G>C	c.(178-180)Gag>Cag	p.E60Q	SMG5_ENST00000368267.5_5'Flank|SMG5_ENST00000361813.5_5'Flank|TMEM79_ENST00000357501.2_Intron|TMEM79_ENST00000495881.1_3'UTR|TMEM79_ENST00000295694.5_Missense_Mutation_p.E60Q	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	60					cornification (GO:0070268)|cuticle development (GO:0042335)|epithelial cell maturation (GO:0002070)|establishment of skin barrier (GO:0061436)|hair follicle morphogenesis (GO:0031069)|positive regulation of epidermis development (GO:0045684)|regulated secretory pathway (GO:0045055)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21	Hepatocellular(266;0.158)					CACAGCCATAGAGGGGGCTGA	0.652																																						dbGAP											0													43.0	46.0	45.0					1																	156255195		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC005094	CCDS1138.1	1q22	2014-04-22			ENSG00000163472	ENSG00000163472			28196	protein-coding gene	gene with protein product	"""mattrin"""	615531					Standard	NM_032323		Approved	MGC13102, FLJ16057, FLJ32254, MATT	uc009wrw.3	Q9BSE2	OTTHUMG00000019788	ENST00000405535.2:c.178G>C	1.37:g.156255195G>C	ENSP00000384748:p.Glu60Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RE22|D3DVB8	Missense_Mutation	SNP	NULL	p.E60Q	ENST00000405535.2	37	c.178	CCDS1138.1	1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.815558	0.32145	.	.	ENSG00000163472	ENST00000295694;ENST00000405535	T;T	0.48201	0.82;0.82	5.96	5.04	0.67666	.	0.396732	0.28219	N	0.016142	T	0.18800	0.0451	N	0.19112	0.55	0.09310	N	1	P	0.45827	0.867	B	0.41619	0.361	T	0.05386	-1.0888	9	.	.	.	-6.8904	12.6671	0.56848	0.0785:0.0:0.9215:0.0	.	60	Q9BSE2	TMM79_HUMAN	Q	60	ENSP00000295694:E60Q;ENSP00000384748:E60Q	.	E	+	1	0	TMEM79	154521819	0.995000	0.38212	0.710000	0.30468	0.910000	0.53928	3.190000	0.50973	2.813000	0.96785	0.655000	0.94253	GAG	TMEM79	-	NULL	ENSG00000163472		0.652	TMEM79-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM79	HGNC	protein_coding	OTTHUMT00000052101.1	23	0.00	0	G	NM_032323		156255195	156255195	+1	no_errors	ENST00000295694	ensembl	human	known	69_37n	missense	20	20.00	5	SNP	0.045	C
TMEM98	26022	genome.wustl.edu	37	17	31263412	31263412	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:31263412G>A	ENST00000579849.1	+	6	791	c.360G>A	c.(358-360)aaG>aaA	p.K120K	TMEM98_ENST00000394642.3_Silent_p.K120K|TMEM98_ENST00000578289.1_Silent_p.K120K	NM_015544.2	NP_056359.2	Q9Y2Y6	TMM98_HUMAN	transmembrane protein 98	120						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(2)|large_intestine(1)	3		Ovarian(249;0.182)|Breast(31;0.244)	BRCA - Breast invasive adenocarcinoma(9;0.0769)			CCAAGATGAAGACTTCAGCCA	0.567																																						dbGAP											0													121.0	109.0	113.0					17																	31263412		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			CR605381	CCDS11274.1	17q11.2	2005-12-16			ENSG00000006042	ENSG00000006042			24529	protein-coding gene	gene with protein product		615949				11230166	Standard	NM_001301746		Approved	DKFZP564K1964	uc002hhr.3	Q9Y2Y6	OTTHUMG00000132882	ENST00000579849.1:c.360G>A	17.37:g.31263412G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	E1P631|Q9UFK2	Silent	SNP	NULL	p.K120	ENST00000579849.1	37	c.360	CCDS11274.1	17																																																																																			TMEM98	-	NULL	ENSG00000006042		0.567	TMEM98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM98	HGNC	protein_coding	OTTHUMT00000256372.2	103	0.96	1	G	NM_015544		31263412	31263412	+1	no_errors	ENST00000394642	ensembl	human	known	69_37n	silent	46	33.33	23	SNP	1.000	A
TMF1	7110	genome.wustl.edu	37	3	69097500	69097500	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:69097500G>A	ENST00000398559.2	-	2	572	c.356C>T	c.(355-357)cCa>cTa	p.P119L	TMF1_ENST00000543976.1_Missense_Mutation_p.P119L|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|MIR3136_ENST00000583498.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA			P82094	TMF1_HUMAN	TATA element modulatory factor 1	119					acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TGATTTTGCTGGAGGTTTTGA	0.443																																						dbGAP											0													302.0	286.0	292.0					3																	69097500		1935	4132	6067	-	-	-	SO:0001583	missense	0				CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.356C>T	3.37:g.69097500G>A	ENSP00000381567:p.Pro119Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLJ2|Q17R87|Q59GK0	Missense_Mutation	SNP	pfam_TMF_TATA-bd,pfam_TMF_DNA-bd	p.P119L	ENST00000398559.2	37	c.356	CCDS43105.1	3	.	.	.	.	.	.	.	.	.	.	G	22.2	4.252277	0.80135	.	.	ENSG00000144747	ENST00000398559;ENST00000543976;ENST00000438636	T;T	0.57107	0.44;0.42	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.72724	0.3496	M	0.66939	2.045	0.80722	D	1	D;D	0.76494	0.999;0.997	D;P	0.72625	0.978;0.895	T	0.73519	-0.3957	10	0.72032	D	0.01	-7.2536	20.0545	0.97645	0.0:0.0:1.0:0.0	.	119;119	P82094-2;P82094	.;TMF1_HUMAN	L	119	ENSP00000381567:P119L;ENSP00000438706:P119L	ENSP00000381567:P119L	P	-	2	0	TMF1	69180190	1.000000	0.71417	0.996000	0.52242	0.609000	0.37215	9.476000	0.97823	2.748000	0.94277	0.655000	0.94253	CCA	TMF1	-	NULL	ENSG00000144747		0.443	TMF1-001	KNOWN	basic|CCDS	protein_coding	TMF1	HGNC	protein_coding	OTTHUMT00000352106.1	234	0.00	0	G	NM_007114		69097500	69097500	-1	no_errors	ENST00000543976	ensembl	human	known	69_37n	missense	214	17.62	46	SNP	1.000	A
TMPRSS11D	9407	genome.wustl.edu	37	4	68693103	68693103	+	Silent	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:68693103C>A	ENST00000283916.6	-	8	926	c.828G>T	c.(826-828)gtG>gtT	p.V276V	UBA6-AS1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000545541.1_Silent_p.V159V	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	276	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)|respiratory gaseous exchange (GO:0007585)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						TCTCAAGTCTCACAAGTGCAA	0.363																																						dbGAP											0													113.0	106.0	108.0					4																	68693103		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AB002134	CCDS3518.1	4q13.2	2010-04-13			ENSG00000153802	ENSG00000153802		"""Serine peptidases / Transmembrane"""	24059	protein-coding gene	gene with protein product	"""airway trypsin like protease"""	605369				9565616, 9070615	Standard	XM_005265710		Approved		uc003hdq.3	O60235	OTTHUMG00000129300	ENST00000283916.6:c.828G>T	4.37:g.68693103C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q08AF6	Silent	SNP	pirsf_Pept_S1A_HAT/DESC1,pfam_Peptidase_S1_S6,pfam_SEA,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_SEA,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_SEA,pfscan_Peptidase_S1_S6	p.V276	ENST00000283916.6	37	c.828	CCDS3518.1	4																																																																																			TMPRSS11D	-	pirsf_Pept_S1A_HAT/DESC1,pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6	ENSG00000153802		0.363	TMPRSS11D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS11D	HGNC	protein_coding	OTTHUMT00000251430.3	87	0.00	0	C	NM_004262		68693103	68693103	-1	no_errors	ENST00000283916	ensembl	human	known	69_37n	silent	78	14.29	13	SNP	0.118	A
TMTC3	160418	genome.wustl.edu	37	12	88582679	88582679	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:88582679G>C	ENST00000266712.6	+	11	1712	c.1492G>C	c.(1492-1494)Gaa>Caa	p.E498Q		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	498					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						TAGAACCAAAGAAGCTGAAGA	0.294																																						dbGAP											0													75.0	80.0	78.0					12																	88582679		2202	4288	6490	-	-	-	SO:0001583	missense	0				CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"""Tetratricopeptide (TTC) repeat domain containing"""	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	ENST00000266712.6:c.1492G>C	12.37:g.88582679G>C	ENSP00000266712:p.Glu498Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Missense_Mutation	SNP	pfam_TPR_2,pfam_TPR-1,pfam_DUF1736,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E498Q	ENST00000266712.6	37	c.1492	CCDS9032.1	12	.	.	.	.	.	.	.	.	.	.	G	32	5.139135	0.94560	.	.	ENSG00000139324	ENST00000266712	T	0.62788	0.0	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.78698	0.4324	M	0.84683	2.71	0.80722	D	1	D	0.55605	0.972	P	0.55824	0.785	T	0.81150	-0.1064	10	0.51188	T	0.08	-17.6973	19.105	0.93291	0.0:0.0:1.0:0.0	.	498	Q6ZXV5-2	.	Q	498	ENSP00000266712:E498Q	ENSP00000266712:E498Q	E	+	1	0	TMTC3	87106810	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.237000	0.95368	2.513000	0.84729	0.655000	0.94253	GAA	TMTC3	-	smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000139324		0.294	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMTC3	HGNC	protein_coding	OTTHUMT00000406421.1	66	0.00	0	G	NM_181783		88582679	88582679	+1	no_errors	ENST00000266712	ensembl	human	known	69_37n	missense	66	12.00	9	SNP	1.000	C
TMX4	56255	genome.wustl.edu	37	20	7990954	7990954	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:7990954G>A	ENST00000246024.2	-	2	400	c.185C>T	c.(184-186)cCa>cTa	p.P62L	TMX4_ENST00000530935.1_5'UTR	NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	62	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						TGGACACCATGGGGCGTAACT	0.343																																						dbGAP											0													72.0	67.0	69.0					20																	7990954		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS13101.1	20p12	2011-10-19	2009-02-23	2009-02-23	ENSG00000125827	ENSG00000125827		"""Protein disulfide isomerases"""	25237	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 14"""		"""thioredoxin domain containing 13"""	TXNDC13			Standard	NM_021156		Approved	DJ971N18.2, KIAA1162, PDIA14	uc002wmx.1	Q9H1E5	OTTHUMG00000031843	ENST00000246024.2:c.185C>T	20.37:g.7990954G>A	ENSP00000246024:p.Pro62Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N4P7|Q8NCC1|Q9UJA1|Q9ULQ8	Missense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.P62L	ENST00000246024.2	37	c.185	CCDS13101.1	20	.	.	.	.	.	.	.	.	.	.	G	17.91	3.503997	0.64410	.	.	ENSG00000125827	ENST00000246024;ENST00000527925	T;T	0.28069	2.03;1.63	5.57	5.57	0.84162	Thioredoxin domain (1);Thioredoxin, conserved site (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	T	0.70971	0.3285	H	0.96777	3.88	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81066	-0.1101	10	0.87932	D	0	-14.8898	18.6672	0.91495	0.0:0.0:1.0:0.0	.	62	Q9H1E5	TMX4_HUMAN	L	62	ENSP00000246024:P62L;ENSP00000435735:P62L	ENSP00000246024:P62L	P	-	2	0	TMX4	7938954	1.000000	0.71417	0.995000	0.50966	0.311000	0.27955	7.319000	0.79040	2.779000	0.95612	0.591000	0.81541	CCA	TMX4	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	ENSG00000125827		0.343	TMX4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TMX4	HGNC	protein_coding	OTTHUMT00000077928.2	104	0.00	0	G	NM_021156		7990954	7990954	-1	no_errors	ENST00000246024	ensembl	human	known	69_37n	missense	149	16.29	29	SNP	1.000	A
TNFAIP2	7127	genome.wustl.edu	37	14	103599098	103599098	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:103599098G>A	ENST00000560869.1	+	9	2073	c.1434G>A	c.(1432-1434)aaG>aaA	p.K478K	TNFAIP2_ENST00000333007.1_Silent_p.K478K|TNFAIP2_ENST00000538222.1_5'UTR|TNFAIP2_ENST00000451723.2_Silent_p.K147K			Q03169	TNAP2_HUMAN	tumor necrosis factor, alpha-induced protein 2	478					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|exocytosis (GO:0006887)	exocyst (GO:0000145)|extracellular space (GO:0005615)				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11		Melanoma(154;0.155)	Epithelial(46;0.191)			CACTGTTCAAGAGGTTCACGC	0.612																																						dbGAP											0													43.0	43.0	43.0					14																	103599098		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS9979.1	14q32	2011-01-31				ENSG00000185215			11895	protein-coding gene	gene with protein product	"""exocyst complex component 3-like 3"""	603300				1374453	Standard	NM_006291		Approved	B94, EXOC3L3	uc001ymm.1	Q03169		ENST00000560869.1:c.1434G>A	14.37:g.103599098G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86VI0	Missense_Mutation	SNP	pfam_Sec6	p.R5K	ENST00000560869.1	37	c.14	CCDS9979.1	14																																																																																			TNFAIP2	-	pfam_Sec6	ENSG00000185215		0.612	TNFAIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFAIP2	HGNC	protein_coding	OTTHUMT00000415674.1	59	0.00	0	G	NM_006291		103599098	103599098	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000559255	ensembl	human	putative	69_37n	missense	42	25.00	14	SNP	1.000	A
TNFAIP3	7128	genome.wustl.edu	37	6	138196965	138196965	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:138196965C>G	ENST00000237289.4	+	4	693	c.627C>G	c.(625-627)gtC>gtG	p.V209V		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	209	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|TRAF-binding.				apoptotic process (GO:0006915)|B-1 B cell homeostasis (GO:0001922)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of B cell activation (GO:0050869)|negative regulation of bone resorption (GO:0045779)|negative regulation of CD40 signaling pathway (GO:2000349)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of protein catabolic process (GO:0045732)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked deubiquitination (GO:0070536)|protein oligomerization (GO:0051259)|regulation of defense response to virus by host (GO:0050691)|regulation of germinal center formation (GO:0002634)|regulation of vascular wound healing (GO:0061043)|response to molecule of bacterial origin (GO:0002237)|tolerance induction to lipopolysaccharide (GO:0072573)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|protease binding (GO:0002020)|protein self-association (GO:0043621)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.0?(25)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		CAATCATTGTCATTTCAGGTG	0.463			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""																																GBM(130;153 1739 22295 28918 47987)	dbGAP		Rec	yes		6	6q23	7128	"""tumor necrosis factor, alpha-induced protein 3"""		L	25	Whole gene deletion(25)	haematopoietic_and_lymphoid_tissue(25)											129.0	126.0	127.0					6																	138196965		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M59465	CCDS5187.1	6q23-q25	2013-01-21			ENSG00000118503	ENSG00000118503		"""OTU domain containing"""	11896	protein-coding gene	gene with protein product		191163				2118515	Standard	NM_006290		Approved	A20, OTUD7C	uc031spw.1	P21580	OTTHUMG00000015664	ENST00000237289.4:c.627C>G	6.37:g.138196965C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	Silent	SNP	pfam_Znf_A20,pfam_OTU,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20	p.V209	ENST00000237289.4	37	c.627	CCDS5187.1	6	.	.	.	.	.	.	.	.	.	.	C	10.36	1.327492	0.24080	.	.	ENSG00000118503	ENST00000539356	.	.	.	6.08	2.96	0.34315	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-7.642	4.9643	0.14082	0.0:0.5568:0.1738:0.2694	.	.	.	.	X	209	.	ENSP00000439665:S209X	S	+	2	0	TNFAIP3	138238658	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.301000	0.33447	0.883000	0.36040	0.655000	0.94253	TCA	TNFAIP3	-	pfam_OTU,pfscan_OTU	ENSG00000118503		0.463	TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFAIP3	HGNC	protein_coding	OTTHUMT00000042414.1	58	0.00	0	C			138196965	138196965	+1	no_errors	ENST00000237289	ensembl	human	known	69_37n	silent	54	23.94	17	SNP	1.000	G
TNFAIP6	7130	genome.wustl.edu	37	2	152230076	152230076	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:152230076G>A	ENST00000243347.3	+	5	712	c.637G>A	c.(637-639)Gag>Aag	p.E213K	RN7SL124P_ENST00000498656.2_RNA	NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6	213	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)		hyaluronic acid binding (GO:0005540)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)	Hyaluronan(DB08818)	CTGTGGAGATGAGCTTCCAGA	0.353																																						dbGAP											0													152.0	148.0	150.0					2																	152230076		2203	4298	6501	-	-	-	SO:0001583	missense	0				CCDS2193.1	2q23.3	2008-11-18			ENSG00000123610	ENSG00000123610			11898	protein-coding gene	gene with protein product		600410				1730767, 8568267, 15060082	Standard	NM_007115		Approved	TSG6, TSG-6	uc002txk.3	P98066	OTTHUMG00000131884	ENST00000243347.3:c.637G>A	2.37:g.152230076G>A	ENSP00000243347:p.Glu213Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53TI7|Q8WWI9	Missense_Mutation	SNP	pfam_CUB,pfam_Link,superfamily_CUB,superfamily_C-type_lectin_fold,smart_Link,smart_CUB,pfscan_CUB,pfscan_Link,prints_Link	p.E213K	ENST00000243347.3	37	c.637	CCDS2193.1	2	.	.	.	.	.	.	.	.	.	.	G	2.238	-0.374469	0.05034	.	.	ENSG00000123610	ENST00000243347	T	0.17691	2.26	4.66	1.84	0.25277	CUB (5);	0.636836	0.16561	N	0.209035	T	0.07863	0.0197	N	0.12853	0.265	0.37982	D	0.933634	B	0.18863	0.031	B	0.15870	0.014	T	0.29458	-1.0011	10	0.06494	T	0.89	.	10.693	0.45882	0.0724:0.1869:0.7407:0.0	.	213	P98066	TSG6_HUMAN	K	213	ENSP00000243347:E213K	ENSP00000243347:E213K	E	+	1	0	TNFAIP6	151938322	1.000000	0.71417	0.853000	0.33588	0.088000	0.18126	2.261000	0.43276	0.148000	0.19059	-1.988000	0.00451	GAG	TNFAIP6	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB	ENSG00000123610		0.353	TNFAIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFAIP6	HGNC	protein_coding	OTTHUMT00000254834.2	143	0.00	0	G	NM_007115		152230076	152230076	+1	no_errors	ENST00000243347	ensembl	human	known	69_37n	missense	160	20.00	40	SNP	0.964	A
TNFAIP8L1	126282	genome.wustl.edu	37	19	4652151	4652151	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:4652151C>T	ENST00000536716.1	+	2	416	c.270C>T	c.(268-270)ttC>ttT	p.F90F	AC005339.2_ENST00000598070.1_RNA|TNFAIP8L1_ENST00000327473.4_Silent_p.F90F	NM_001167942.1	NP_001161414.1	Q8WVP5	TP8L1_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 1	90					negative regulation of TOR signaling (GO:0032007)	cytoplasm (GO:0005737)				endometrium(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCGGCGCTTCCGCCACCGGG	0.697																																						dbGAP											0													24.0	25.0	25.0					19																	4652151		2155	4214	6369	-	-	-	SO:0001819	synonymous_variant	0			BC017672	CCDS12132.1	19p13.3	2008-02-05				ENSG00000185361			28279	protein-coding gene	gene with protein product		615869				12477932	Standard	NM_001167942		Approved	MGC17791	uc002max.3	Q8WVP5		ENST00000536716.1:c.270C>T	19.37:g.4652151C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D6W627	Silent	SNP	pfam_DUF758	p.F90	ENST00000536716.1	37	c.270	CCDS12132.1	19																																																																																			TNFAIP8L1	-	pfam_DUF758	ENSG00000185361		0.697	TNFAIP8L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFAIP8L1	HGNC	protein_coding	OTTHUMT00000458662.1	20	0.00	0	C	NM_152362		4652151	4652151	+1	no_errors	ENST00000327473	ensembl	human	known	69_37n	silent	11	26.67	4	SNP	0.993	T
TNFAIP8L3	388121	genome.wustl.edu	37	15	51350622	51350622	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:51350622G>C	ENST00000327536.5	-	3	434	c.335C>G	c.(334-336)tCa>tGa	p.S112*	RP11-108K3.1_ENST00000559909.1_lincRNA	NM_207381.2	NP_997264.2	Q5GJ75	TP8L3_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 3	112										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		AAGACTCTTTGAACTAAAAAC	0.353																																						dbGAP											0													39.0	36.0	37.0					15																	51350622		2195	4293	6488	-	-	-	SO:0001587	stop_gained	0			AK123281	CCDS32241.1	15q21.2	2005-08-09				ENSG00000183578			20620	protein-coding gene	gene with protein product							Standard	XM_005254367		Approved	FLJ41287	uc001zyy.3	Q5GJ75		ENST00000327536.5:c.335C>G	15.37:g.51350622G>C	ENSP00000328016:p.Ser112*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZWD1	Nonsense_Mutation	SNP	pfam_DUF758	p.S112*	ENST00000327536.5	37	c.335	CCDS32241.1	15	.	.	.	.	.	.	.	.	.	.	G	29.2	4.988765	0.93106	.	.	ENSG00000183578	ENST00000327536	.	.	.	5.38	5.38	0.77491	.	0.111158	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-13.6111	18.1152	0.89552	0.0:0.0:1.0:0.0	.	.	.	.	X	112	.	ENSP00000328016:S112X	S	-	2	0	TNFAIP8L3	49137914	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.717000	0.98755	2.516000	0.84829	0.508000	0.49915	TCA	TNFAIP8L3	-	pfam_DUF758	ENSG00000183578		0.353	TNFAIP8L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFAIP8L3	HGNC	protein_coding	OTTHUMT00000418661.1	54	0.00	0	G	NM_207381		51350622	51350622	-1	no_errors	ENST00000327536	ensembl	human	known	69_37n	nonsense	61	28.24	24	SNP	1.000	C
TNFSF12	8742	genome.wustl.edu	37	17	7460135	7460135	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:7460135C>G	ENST00000293825.6	+	6	677	c.414C>G	c.(412-414)atC>atG	p.I138M	TNFSF13_ENST00000338784.4_5'Flank|TNFSF13_ENST00000396545.4_5'Flank|TNFSF12_ENST00000557233.1_Missense_Mutation_p.I138M|TNFSF12-TNFSF13_ENST00000293826.4_Missense_Mutation_p.I138M|TNFSF13_ENST00000380535.4_5'Flank|TNFSF13_ENST00000483039.1_5'Flank|TNFSF12_ENST00000462811.1_3'UTR|TNFSF13_ENST00000396542.1_5'Flank|TNFSF13_ENST00000349228.4_5'Flank	NM_003809.2	NP_003800.1	O43508	TNF12_HUMAN	tumor necrosis factor (ligand) superfamily, member 12	138					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|endothelial cell migration (GO:0043542)|immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	cytokine activity (GO:0005125)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|prostate(2)	11		Prostate(122;0.157)				AAGCCAGAATCAACAGCTCCA	0.582																																						dbGAP											0													62.0	57.0	58.0					17																	7460135		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF030099	CCDS11109.1	17p13.1	2008-02-01			ENSG00000239697	ENSG00000239697		"""Tumor necrosis factor (ligand) superfamily"""	11927	protein-coding gene	gene with protein product		602695				9405449, 9560343	Standard	NM_003809		Approved	TWEAK, DR3LG, APO3L		O43508	OTTHUMG00000108148	ENST00000293825.6:c.414C>G	17.37:g.7460135C>G	ENSP00000293825:p.Ile138Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IZK7|Q8WUZ7	Missense_Mutation	SNP	pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF	p.I138M	ENST00000293825.6	37	c.414	CCDS11109.1	17	.	.	.	.	.	.	.	.	.	.	C	18.57	3.652185	0.67472	.	.	ENSG00000239697;ENSG00000239697;ENSG00000248871	ENST00000293825;ENST00000557233;ENST00000293826	D;D;D	0.94537	-3.45;-3.45;-3.45	4.58	3.53	0.40419	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.920654	0.09124	N	0.845257	D	0.95554	0.8555	L	0.46157	1.445	0.28488	N	0.914634	D;D	0.76494	0.998;0.999	D;D	0.73708	0.958;0.981	D	0.89062	0.3463	10	0.39692	T	0.17	-7.4745	10.9176	0.47146	0.1875:0.8125:0.0:0.0	.	138;138	Q8IZK7;O43508	.;TNF12_HUMAN	M	138	ENSP00000293825:I138M;ENSP00000451451:I138M;ENSP00000293826:I138M	ENSP00000293825:I138M	I	+	3	3	TNFSF12-TNFSF13;TNFSF12	7400859	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.337000	0.33862	2.276000	0.75962	0.462000	0.41574	ATC	TNFSF12-TNFSF13	-	pfam_TNF,superfamily_Tumour_necrosis_fac-like,pfscan_TNF	ENSG00000248871		0.582	TNFSF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFSF12-TNFSF13	HGNC	protein_coding	OTTHUMT00000226951.2	39	0.00	0	C	NM_003809		7460135	7460135	+1	no_errors	ENST00000293826	ensembl	human	known	69_37n	missense	26	25.71	9	SNP	1.000	G
TNIP2	79155	genome.wustl.edu	37	4	2744011	2744011	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:2744011G>A	ENST00000315423.7	-	6	1349	c.1263C>T	c.(1261-1263)ctC>ctT	p.L421L	TNIP2_ENST00000503235.1_Silent_p.L338L|TNIP2_ENST00000505186.1_5'UTR|TNIP2_ENST00000510267.1_Silent_p.L314L	NM_024309.3	NP_077285.3			TNFAIP3 interacting protein 2											breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCACATGCCTGAGGAGCTCTT	0.677																																						dbGAP											0													34.0	34.0	34.0					4																	2744011		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC002740	CCDS3362.1, CCDS54714.1, CCDS75093.1	4p16.3	2008-08-01			ENSG00000168884	ENSG00000168884			19118	protein-coding gene	gene with protein product		610669				11390377, 12933576	Standard	NM_024309		Approved	ABIN-2, MGC4289, KLIP, FLIP1	uc003gfg.2	Q8NFZ5	OTTHUMG00000090267	ENST00000315423.7:c.1263C>T	4.37:g.2744011G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_EABR	p.L421	ENST00000315423.7	37	c.1263	CCDS3362.1	4																																																																																			TNIP2	-	NULL	ENSG00000168884		0.677	TNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNIP2	HGNC	protein_coding	OTTHUMT00000206589.5	27	0.00	0	G	NM_024309		2744011	2744011	-1	no_errors	ENST00000315423	ensembl	human	known	69_37n	silent	28	28.21	11	SNP	0.989	A
TNIP3	79931	genome.wustl.edu	37	4	122063919	122063919	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:122063919G>A	ENST00000509841.1	-	11	1057	c.979C>T	c.(979-981)Cag>Tag	p.Q327*	TNIP3_ENST00000454328.1_Nonsense_Mutation_p.Q250*|TNIP3_ENST00000507879.1_Nonsense_Mutation_p.Q320*|TNIP3_ENST00000057513.3_Nonsense_Mutation_p.Q250*|TNIP3_ENST00000511909.1_5'UTR	NM_001244764.1	NP_001231693.1			TNFAIP3 interacting protein 3											NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						TTCTCCATCTGACAAGCTTTT	0.343																																						dbGAP											0													159.0	162.0	161.0					4																	122063919		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AJ320534	CCDS3718.1, CCDS58925.1, CCDS58926.1	4q27	2008-02-05			ENSG00000050730	ENSG00000050730			19315	protein-coding gene	gene with protein product		608019				11345586	Standard	NM_024873		Approved	LIND, FLJ21162, ABIN-3	uc021xrj.1	Q96KP6	OTTHUMG00000132969	ENST00000509841.1:c.979C>T	4.37:g.122063919G>A	ENSP00000426613:p.Gln327*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	NULL	p.Q250*	ENST00000509841.1	37	c.748	CCDS58926.1	4	.	.	.	.	.	.	.	.	.	.	G	37	6.239382	0.97403	.	.	ENSG00000050730	ENST00000057513;ENST00000454328;ENST00000507879;ENST00000509841	.	.	.	4.83	3.95	0.45737	.	0.549694	0.16418	N	0.215282	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.2786	12.7868	0.57510	0.0:0.166:0.834:0.0	.	.	.	.	X	250;250;320;327	.	ENSP00000057513:Q250X	Q	-	1	0	TNIP3	122283369	0.986000	0.35501	0.991000	0.47740	0.985000	0.73830	1.469000	0.35343	1.283000	0.44513	0.650000	0.86243	CAG	TNIP3	-	NULL	ENSG00000050730		0.343	TNIP3-003	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	TNIP3	HGNC	protein_coding	OTTHUMT00000364000.4	158	0.00	0	G	NM_024873		122063919	122063919	-1	no_errors	ENST00000057513	ensembl	human	known	69_37n	nonsense	132	14.84	23	SNP	1.000	A
TNKS1BP1	85456	genome.wustl.edu	37	11	57089272	57089272	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:57089272C>T	ENST00000532437.1	-	1	399	c.88G>A	c.(88-90)Gag>Aag	p.E30K	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.E30K			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	30	Arg/Glu/Lys/Pro-rich (charged).				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				GTACCTGGCTCAGAGCCAGTA	0.622																																						dbGAP											0													60.0	52.0	55.0					11																	57089272		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.88G>A	11.37:g.57089272C>T	ENSP00000437271:p.Glu30Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	NULL	p.E30K	ENST00000532437.1	37	c.88	CCDS7951.1	11	.	.	.	.	.	.	.	.	.	.	C	23.4	4.414781	0.83449	.	.	ENSG00000149115	ENST00000358252;ENST00000532437;ENST00000527207	T;T	0.38560	1.13;1.13	4.45	4.45	0.53987	.	0.000000	0.40728	N	0.001034	T	0.48484	0.1502	N	0.24115	0.695	0.53688	D	0.999979	D	0.76494	0.999	D	0.80764	0.994	T	0.49234	-0.8961	10	0.54805	T	0.06	-21.1879	12.7811	0.57476	0.0:1.0:0.0:0.0	.	30	Q9C0C2	TB182_HUMAN	K	30	ENSP00000350990:E30K;ENSP00000437271:E30K	ENSP00000350990:E30K	E	-	1	0	TNKS1BP1	56845848	0.987000	0.35691	0.947000	0.38551	0.667000	0.39255	3.529000	0.53532	2.446000	0.82766	0.563000	0.77884	GAG	TNKS1BP1	-	NULL	ENSG00000149115		0.622	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TNKS1BP1	HGNC	protein_coding	OTTHUMT00000392455.1	49	0.00	0	C	NM_033396		57089272	57089272	-1	no_errors	ENST00000358252	ensembl	human	known	69_37n	missense	37	39.34	24	SNP	0.963	T
TNNC2	7125	genome.wustl.edu	37	20	44453025	44453025	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:44453025C>G	ENST00000372555.3	-	4	312	c.220G>C	c.(220-222)Gag>Cag	p.E74Q	TNNC2_ENST00000372557.1_Missense_Mutation_p.E59Q	NM_003279.2	NP_003270.1	P02585	TNNC2_HUMAN	troponin C type 2 (fast)	74	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				muscle filament sliding (GO:0030049)|regulation of muscle contraction (GO:0006937)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|troponin complex (GO:0005861)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.0122)			Felodipine(DB01023)	AAGAACTCCTCGAAGTCGATG	0.652																																						dbGAP											0													66.0	60.0	62.0					20																	44453025		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13375.1	20q12-q13.11	2013-01-10	2005-09-12		ENSG00000101470	ENSG00000101470		"""EF-hand domain containing"""	11944	protein-coding gene	gene with protein product		191039	"""troponin C2, fast"""			2373703	Standard	NM_003279		Approved		uc002xpr.3	P02585	OTTHUMG00000032623	ENST00000372555.3:c.220G>C	20.37:g.44453025C>G	ENSP00000361636:p.Glu74Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6FH92	Missense_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.E74Q	ENST00000372555.3	37	c.220	CCDS13375.1	20	.	.	.	.	.	.	.	.	.	.	C	15.21	2.767061	0.49574	.	.	ENSG00000101470	ENST00000372557;ENST00000372555	T;T	0.81078	-1.45;-1.45	4.49	3.56	0.40772	EF-hand-like domain (1);	0.109676	0.64402	D	0.000009	D	0.82416	0.5032	L	0.35414	1.06	0.80722	D	1	D	0.76494	0.999	D	0.67900	0.954	D	0.83569	0.0111	10	0.87932	D	0	-25.2271	11.5918	0.50949	0.0:0.9121:0.0:0.0879	.	74	P02585	TNNC2_HUMAN	Q	59;74	ENSP00000361638:E59Q;ENSP00000361636:E74Q	ENSP00000361636:E74Q	E	-	1	0	TNNC2	43886432	1.000000	0.71417	0.995000	0.50966	0.141000	0.21300	4.835000	0.62781	1.125000	0.41998	-0.232000	0.12228	GAG	TNNC2	-	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	ENSG00000101470		0.652	TNNC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TNNC2	HGNC	protein_coding	OTTHUMT00000079524.3	41	0.00	0	C	NM_003279		44453025	44453025	-1	no_errors	ENST00000372555	ensembl	human	known	69_37n	missense	49	20.97	13	SNP	1.000	G
TNNT1	7138	genome.wustl.edu	37	19	55645293	55645293	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:55645293G>C	ENST00000588981.1	-	13	957	c.753C>G	c.(751-753)atC>atG	p.I251M	TNNT1_ENST00000291901.8_Missense_Mutation_p.I235M|TNNT1_ENST00000356783.5_Missense_Mutation_p.I224M|TNNT1_ENST00000587758.1_Missense_Mutation_p.I224M|TNNT1_ENST00000588426.1_Missense_Mutation_p.I132M|TNNT1_ENST00000536926.1_Missense_Mutation_p.I224M|TNNT1_ENST00000585321.2_Missense_Mutation_p.I165M|TNNT1_ENST00000587465.2_Missense_Mutation_p.I165M	NM_003283.4	NP_003274.3	P13805	TNNT1_HUMAN	troponin T type 1 (skeletal, slow)	251					muscle filament sliding (GO:0030049)|negative regulation of muscle contraction (GO:0045932)|skeletal muscle contraction (GO:0003009)|slow-twitch skeletal muscle fiber contraction (GO:0031444)	cytosol (GO:0005829)|troponin complex (GO:0005861)	tropomyosin binding (GO:0005523)			endometrium(2)|kidney(3)|lung(4)|ovary(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		ACAGCACGTTGATCTGCGGAG	0.642																																						dbGAP											0													126.0	82.0	97.0					19																	55645293		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12917.1, CCDS46185.1, CCDS59421.1	19q13.4	2014-09-17	2005-09-12			ENSG00000105048			11948	protein-coding gene	gene with protein product	"""slow skeletal muscle troponin T"", ""troponin T1, skeletal, slow"", ""nemaline myopathy type 5"""	191041	"""troponin T1, skeletal, slow"""			1505979	Standard	XM_006723343		Approved	ANM, STNT, TNT, TNTS, FLJ98147, MGC104241, NEM5	uc002qjb.4	P13805		ENST00000588981.1:c.753C>G	19.37:g.55645293G>C	ENSP00000467176:p.Ile251Met	Somatic		WXS	Illumina GAIIx	Phase_IV	O95472|Q16061|Q5U0E1	Missense_Mutation	SNP	pfam_Troponin	p.I251M	ENST00000588981.1	37	c.753	CCDS12917.1	19	.	.	.	.	.	.	.	.	.	.	g	11.06	1.526373	0.27299	.	.	ENSG00000105048	ENST00000291901;ENST00000356783;ENST00000536926;ENST00000537693	D;D	0.89552	-2.53;-2.53	4.24	3.1	0.35709	.	0.060281	0.64402	U	0.000005	D	0.82568	0.5065	L	0.51853	1.615	0.52099	D	0.999945	B;B;B;B	0.28850	0.225;0.225;0.177;0.225	B;B;B;B	0.26517	0.07;0.07;0.033;0.07	T	0.81195	-0.1043	10	0.62326	D	0.03	-17.4669	5.4689	0.16658	0.1118:0.2073:0.6809:0.0	.	224;235;251;224	P13805-2;P13805-3;P13805;F5H1H4	.;.;TNNT1_HUMAN;.	M	251;224;224;165	ENSP00000349233:I224M;ENSP00000439640:I224M	ENSP00000291901:I251M	I	-	3	3	TNNT1	60337105	1.000000	0.71417	1.000000	0.80357	0.201000	0.24016	1.776000	0.38594	2.119000	0.64992	0.197000	0.17608	ATC	TNNT1	-	NULL	ENSG00000105048		0.642	TNNT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNNT1	HGNC	protein_coding	OTTHUMT00000451825.2	53	0.00	0	G	NM_003283		55645293	55645293	-1	no_errors	ENST00000588981	ensembl	human	known	69_37n	missense	44	25.42	15	SNP	1.000	C
TNPO1	3842	genome.wustl.edu	37	5	72189267	72189267	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:72189267G>C	ENST00000337273.5	+	17	2386	c.1960G>C	c.(1960-1962)Gat>Cat	p.D654H	TNPO1_ENST00000523768.1_Missense_Mutation_p.D604H|TNPO1_ENST00000506351.2_Missense_Mutation_p.D646H|TNPO1_ENST00000454282.1_Missense_Mutation_p.D604H	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	654					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|protein import into nucleus, translocation (GO:0000060)|RNA metabolic process (GO:0016070)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		AGTGGCTCTTGATTTACTGAG	0.408																																						dbGAP											0													64.0	66.0	65.0					5																	72189267		2203	4297	6500	-	-	-	SO:0001583	missense	0			U70322	CCDS4016.1, CCDS43329.1	5q13.1	2009-01-12	2004-01-29	2004-01-30	ENSG00000083312	ENSG00000083312		"""Importins"""	6401	protein-coding gene	gene with protein product	"""importin 2"""	602901	"""karyopherin (importin) beta 2"""	KPNB2		8808633, 9144189	Standard	NM_153188		Approved	MIP, TRN, IPO2, MIP1	uc003kci.4	Q92973	OTTHUMG00000100967	ENST00000337273.5:c.1960G>C	5.37:g.72189267G>C	ENSP00000336712:p.Asp654His	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DVC6|Q92957|Q92975	Missense_Mutation	SNP	pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.D654H	ENST00000337273.5	37	c.1960	CCDS43329.1	5	.	.	.	.	.	.	.	.	.	.	G	25.3	4.626284	0.87560	.	.	ENSG00000083312	ENST00000337273;ENST00000454282;ENST00000523768;ENST00000506351;ENST00000519220	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.63	5.63	0.86233	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.77572	0.4150	H	0.96398	3.815	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.85130	0.987;0.997	D	0.84237	0.0470	10	0.87932	D	0	-19.6018	20.0401	0.97581	0.0:0.0:1.0:0.0	.	604;654	Q92973-3;Q92973	.;TNPO1_HUMAN	H	654;604;604;646;165	ENSP00000336712:D654H;ENSP00000398524:D604H;ENSP00000428899:D604H;ENSP00000425118:D646H	ENSP00000336712:D654H	D	+	1	0	TNPO1	72225023	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.341000	0.97041	2.805000	0.96524	0.655000	0.94253	GAT	TNPO1	-	superfamily_ARM-type_fold	ENSG00000083312		0.408	TNPO1-001	KNOWN	basic|CCDS	protein_coding	TNPO1	HGNC	protein_coding	OTTHUMT00000218577.3	126	0.00	0	G	NM_002270		72189267	72189267	+1	no_errors	ENST00000337273	ensembl	human	known	69_37n	missense	73	28.43	29	SNP	1.000	C
TNPO2	30000	genome.wustl.edu	37	19	12814323	12814323	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:12814323G>A	ENST00000592287.1	-	19	2236	c.2128C>T	c.(2128-2130)Ctg>Ttg	p.L710L	TNPO2_ENST00000356861.5_Silent_p.L710L|TNPO2_ENST00000441499.1_Silent_p.L710L|TNPO2_ENST00000450764.2_Silent_p.L710L|SNORD41_ENST00000386967.1_RNA|TNPO2_ENST00000588216.1_Silent_p.L710L|TNPO2_ENST00000425528.1_Silent_p.L710L	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	710					intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)	p.L710V(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TTGGTGCCCAGAATGGGCATG	0.592																																						dbGAP											1	Substitution - Missense(1)	ovary(1)											108.0	117.0	114.0					19																	12814323		2013	4182	6195	-	-	-	SO:0001819	synonymous_variant	0			AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"""Importins"""	19998	protein-coding gene	gene with protein product	"""importin 3"", ""karyopherin beta 2b"""	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.2128C>T	19.37:g.12814323G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O14655|Q6IN77	Silent	SNP	pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N	p.L710	ENST00000592287.1	37	c.2128	CCDS45991.1	19																																																																																			TNPO2	-	superfamily_ARM-type_fold	ENSG00000105576		0.592	TNPO2-002	KNOWN	basic|CCDS	protein_coding	TNPO2	HGNC	protein_coding	OTTHUMT00000450785.1	85	0.00	0	G	NM_013433		12814323	12814323	-1	no_errors	ENST00000425528	ensembl	human	known	69_37n	silent	90	32.33	43	SNP	0.999	A
TNPO2	30000	genome.wustl.edu	37	19	12817064	12817064	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:12817064G>C	ENST00000592287.1	-	14	1722	c.1614C>G	c.(1612-1614)ctC>ctG	p.L538L	TNPO2_ENST00000356861.5_Silent_p.L538L|TNPO2_ENST00000441499.1_Silent_p.L538L|TNPO2_ENST00000450764.2_Silent_p.L538L|SNORD41_ENST00000386967.1_RNA|TNPO2_ENST00000588216.1_Silent_p.L538L|TNPO2_ENST00000425528.1_Silent_p.L538L	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	538					intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGGCGTCATAGAGGATGAGCA	0.622																																						dbGAP											0													74.0	82.0	80.0					19																	12817064		2077	4217	6294	-	-	-	SO:0001819	synonymous_variant	0			AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"""Importins"""	19998	protein-coding gene	gene with protein product	"""importin 3"", ""karyopherin beta 2b"""	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.1614C>G	19.37:g.12817064G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O14655|Q6IN77	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.L75V	ENST00000592287.1	37	c.223	CCDS45991.1	19																																																																																			TNPO2	-	superfamily_ARM-type_fold	ENSG00000105576		0.622	TNPO2-002	KNOWN	basic|CCDS	protein_coding	TNPO2	HGNC	protein_coding	OTTHUMT00000450785.1	53	0.00	0	G	NM_013433		12817064	12817064	-1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000588491	ensembl	human	known	69_37n	missense	34	24.44	11	SNP	1.000	C
TNPO3	23534	genome.wustl.edu	37	7	128630066	128630066	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:128630066C>A	ENST00000265388.5	-	11	1590	c.1447G>T	c.(1447-1449)Gaa>Taa	p.E483*	TNPO3_ENST00000471234.1_Nonsense_Mutation_p.E483*|TNPO3_ENST00000393245.1_Nonsense_Mutation_p.E517*|TNPO3_ENST00000471166.1_Nonsense_Mutation_p.E517*|TNPO3_ENST00000482320.1_Nonsense_Mutation_p.E417*			Q9Y5L0	TNPO3_HUMAN	transportin 3	483					splicing factor protein import into nucleus (GO:0035048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						CCAACCAATTCAATGCTGGTG	0.473																																					Pancreas(147;583 2585 39696 52331)	dbGAP											0													180.0	151.0	161.0					7																	128630066		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF145029	CCDS5809.1, CCDS55162.1	7q32.2	2014-02-03			ENSG00000064419	ENSG00000064419		"""Importins"""	17103	protein-coding gene	gene with protein product	"""importin 12"""	610032	"""limb girdle muscular dystrophy 1F (autosomal dominant)"""	LGMD1F		10366588, 10713112, 23543484, 23667635	Standard	NM_012470		Approved	TRN-SR, MTR10A, TRN-SR2, IPO12	uc003vol.2	Q9Y5L0	OTTHUMG00000158409	ENST00000265388.5:c.1447G>T	7.37:g.128630066C>A	ENSP00000265388:p.Glu483*	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Nonsense_Mutation	SNP	pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold	p.E517*	ENST00000265388.5	37	c.1549	CCDS5809.1	7	.	.	.	.	.	.	.	.	.	.	C	42	9.734754	0.99251	.	.	ENSG00000064419	ENST00000393245;ENST00000265388;ENST00000482320;ENST00000471234;ENST00000471166	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	17.3149	0.87220	0.0:1.0:0.0:0.0	.	.	.	.	X	517;483;417;483;517	.	ENSP00000265388:E483X	E	-	1	0	TNPO3	128417302	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.439000	0.80444	2.683000	0.91414	0.655000	0.94253	GAA	TNPO3	-	superfamily_ARM-type_fold	ENSG00000064419		0.473	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNPO3	HGNC	protein_coding	OTTHUMT00000350929.1	110	0.00	0	C	NM_012470		128630066	128630066	-1	no_errors	ENST00000393245	ensembl	human	known	69_37n	nonsense	103	18.25	23	SNP	1.000	A
TNRC18	84629	genome.wustl.edu	37	7	5391556	5391556	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:5391556C>G	ENST00000430969.1	-	17	5712	c.5364G>C	c.(5362-5364)ctG>ctC	p.L1788L	TNRC18_ENST00000399537.4_Silent_p.L1788L	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1788							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GCTTGGGTTTCAGAGTCCGGG	0.622																																						dbGAP											0													16.0	17.0	17.0					7																	5391556		1568	3581	5149	-	-	-	SO:0001819	synonymous_variant	0			U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.5364G>C	7.37:g.5391556C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MX41|Q96JH1|Q96K91	Silent	SNP	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.L1788	ENST00000430969.1	37	c.5364	CCDS47534.1	7																																																																																			TNRC18	-	NULL	ENSG00000182095		0.622	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNRC18	HGNC	protein_coding		29	0.00	0	C			5391556	5391556	-1	no_errors	ENST00000399537	ensembl	human	known	69_37n	silent	22	31.25	10	SNP	0.997	G
TNRC18	84629	genome.wustl.edu	37	7	5399126	5399126	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:5399126G>A	ENST00000430969.1	-	15	5084	c.4736C>T	c.(4735-4737)tCt>tTt	p.S1579F	TNRC18_ENST00000399537.4_Missense_Mutation_p.S1579F	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1579							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TTCCTCCTCAGACCCCTTGTG	0.542																																						dbGAP											0													217.0	213.0	215.0					7																	5399126		2029	4193	6222	-	-	-	SO:0001583	missense	0			U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.4736C>T	7.37:g.5399126G>A	ENSP00000395538:p.Ser1579Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.S1579F	ENST00000430969.1	37	c.4736	CCDS47534.1	7	.	.	.	.	.	.	.	.	.	.	g	8.283	0.816052	0.16607	.	.	ENSG00000182095	ENST00000399537;ENST00000430969;ENST00000399544;ENST00000440081	T;T;T	0.50548	2.57;2.57;0.74	5.53	5.53	0.82687	.	0.542357	0.15572	N	0.255373	T	0.32436	0.0829	N	0.14661	0.345	0.20307	N	0.999918	B	0.21381	0.055	B	0.19148	0.024	T	0.19679	-1.0298	10	0.54805	T	0.06	.	12.0216	0.53346	0.0792:0.0:0.9208:0.0	.	1579	O15417	TNC18_HUMAN	F	1579;1579;634;69	ENSP00000382452:S1579F;ENSP00000395538:S1579F;ENSP00000395990:S69F	ENSP00000382452:S1579F	S	-	2	0	TNRC18	5365652	1.000000	0.71417	0.358000	0.25811	0.090000	0.18270	3.959000	0.56744	2.596000	0.87737	0.561000	0.74099	TCT	TNRC18	-	NULL	ENSG00000182095		0.542	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNRC18	HGNC	protein_coding		130	0.00	0	G			5399126	5399126	-1	no_errors	ENST00000399537	ensembl	human	known	69_37n	missense	133	24.00	42	SNP	0.471	A
TNPO3	23534	genome.wustl.edu	37	7	128658037	128658037	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:128658037C>G	ENST00000265388.5	-	2	438	c.295G>C	c.(295-297)Gac>Cac	p.D99H	TNPO3_ENST00000471234.1_Missense_Mutation_p.D99H|TNPO3_ENST00000393245.1_Missense_Mutation_p.D99H|TNPO3_ENST00000471166.1_Missense_Mutation_p.D99H|TNPO3_ENST00000482320.1_Missense_Mutation_p.D33H			Q9Y5L0	TNPO3_HUMAN	transportin 3	99					splicing factor protein import into nucleus (GO:0035048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						GGTGACAAGTCTTTCAAGTTC	0.393																																					Pancreas(147;583 2585 39696 52331)	dbGAP											0													149.0	138.0	142.0					7																	128658037		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF145029	CCDS5809.1, CCDS55162.1	7q32.2	2014-02-03			ENSG00000064419	ENSG00000064419		"""Importins"""	17103	protein-coding gene	gene with protein product	"""importin 12"""	610032	"""limb girdle muscular dystrophy 1F (autosomal dominant)"""	LGMD1F		10366588, 10713112, 23543484, 23667635	Standard	NM_012470		Approved	TRN-SR, MTR10A, TRN-SR2, IPO12	uc003vol.2	Q9Y5L0	OTTHUMG00000158409	ENST00000265388.5:c.295G>C	7.37:g.128658037C>G	ENSP00000265388:p.Asp99His	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Missense_Mutation	SNP	pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold	p.D99H	ENST00000265388.5	37	c.295	CCDS5809.1	7	.	.	.	.	.	.	.	.	.	.	C	16.94	3.260321	0.59431	.	.	ENSG00000064419	ENST00000393245;ENST00000265388;ENST00000482320;ENST00000471234;ENST00000471166	T;T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48;-0.48	5.92	5.05	0.67936	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.54127	0.1839	N	0.22421	0.69	0.58432	D	0.999997	B;P;B	0.35155	0.056;0.487;0.031	B;B;B	0.27715	0.022;0.082;0.017	T	0.57745	-0.7758	10	0.51188	T	0.08	.	12.7476	0.57289	0.0:0.9211:0.0:0.0789	.	99;99;99	C9IZM0;C9J7E5;Q9Y5L0	.;.;TNPO3_HUMAN	H	99;99;33;99;99	ENSP00000376936:D99H;ENSP00000265388:D99H;ENSP00000420089:D33H;ENSP00000418646:D99H;ENSP00000418267:D99H	ENSP00000265388:D99H	D	-	1	0	TNPO3	128445273	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.747000	0.85070	1.519000	0.48950	0.655000	0.94253	GAC	TNPO3	-	superfamily_ARM-type_fold	ENSG00000064419		0.393	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNPO3	HGNC	protein_coding	OTTHUMT00000350929.1	145	0.00	0	C	NM_012470		128658037	128658037	-1	no_errors	ENST00000393245	ensembl	human	known	69_37n	missense	86	35.34	47	SNP	1.000	G
TNRC6A	27327	genome.wustl.edu	37	16	24804841	24804841	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:24804841G>C	ENST00000395799.3	+	7	3352	c.3223G>C	c.(3223-3225)Gat>Cat	p.D1075H	TNRC6A_ENST00000315183.7_Missense_Mutation_p.D1075H	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1075	Sufficient for interaction with AGO1 and AGO4.|Sufficient for interaction with AGO2.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		CACAACTGTGGATAATGGTAC	0.567																																						dbGAP											0													85.0	89.0	88.0					16																	24804841		2197	4300	6497	-	-	-	SO:0001583	missense	0			U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.3223G>C	16.37:g.24804841G>C	ENSP00000379144:p.Asp1075His	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	pfam_Argonaute_hook_dom,superfamily_UBA-like	p.D1075H	ENST00000395799.3	37	c.3223	CCDS10624.2	16	.	.	.	.	.	.	.	.	.	.	G	31	5.061193	0.93846	.	.	ENSG00000090905	ENST00000315183;ENST00000395799	T;T	0.47177	0.85;0.85	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.72510	0.3469	M	0.79011	2.435	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.73338	-0.4014	10	0.87932	D	0	-17.0124	20.6397	0.99537	0.0:0.0:1.0:0.0	.	822;1075	Q8NDV7-2;Q8NDV7	.;TNR6A_HUMAN	H	1075	ENSP00000326900:D1075H;ENSP00000379144:D1075H	ENSP00000326900:D1075H	D	+	1	0	TNRC6A	24712342	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.414000	0.97362	2.880000	0.98712	0.650000	0.86243	GAT	TNRC6A	-	NULL	ENSG00000090905		0.567	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	TNRC6A	HGNC	protein_coding	OTTHUMT00000214081.1	56	0.00	0	G	NM_020847		24804841	24804841	+1	no_errors	ENST00000395799	ensembl	human	known	69_37n	missense	38	30.91	17	SNP	1.000	C
TNRC6B	23112	genome.wustl.edu	37	22	40677266	40677266	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:40677266C>G	ENST00000454349.2	+	11	3766	c.3555C>G	c.(3553-3555)ctC>ctG	p.L1185L	TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000497559.1_Intron|TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000335727.9_Intron	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1185	Gln-rich.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						GCACAGGGCTCAACCCCCAAA	0.542																																						dbGAP											0													99.0	94.0	95.0					22																	40677266		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"""Trinucleotide (CAG) repeat containing"""	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.3555C>G	22.37:g.40677266C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Silent	SNP	pfam_Argonaute_hook_dom,superfamily_UBA-like	p.L1185	ENST00000454349.2	37	c.3555	CCDS54533.1	22																																																																																			TNRC6B	-	NULL	ENSG00000100354		0.542	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	TNRC6B	HGNC	protein_coding		80	0.00	0	C			40677266	40677266	+1	no_errors	ENST00000454349	ensembl	human	known	69_37n	silent	134	15.72	25	SNP	1.000	G
TNS3	64759	genome.wustl.edu	37	7	47344432	47344432	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:47344432C>T	ENST00000398879.1	-	21	3186	c.2820G>A	c.(2818-2820)gaG>gaA	p.E940E	TNS3_ENST00000355730.3_Silent_p.E700E|TNS3_ENST00000311160.9_Silent_p.E940E			Q68CZ2	TENS3_HUMAN	tensin 3	940					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CTTCTTACCTCTCTCTCCTCT	0.557																																						dbGAP											0													62.0	70.0	67.0					7																	47344432		1977	4182	6159	-	-	-	SO:0001819	synonymous_variant	0			AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.2820G>A	7.37:g.47344432C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Silent	SNP	pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.E940	ENST00000398879.1	37	c.2820	CCDS5506.2	7																																																																																			TNS3	-	NULL	ENSG00000136205		0.557	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TNS3	HGNC	protein_coding	OTTHUMT00000157253.1	64	0.00	0	C	NM_022748		47344432	47344432	-1	no_errors	ENST00000311160	ensembl	human	known	69_37n	silent	76	13.64	12	SNP	0.768	T
TOB2	10766	genome.wustl.edu	37	22	41833044	41833044	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:41833044C>T	ENST00000327492.3	-	2	1012	c.306G>A	c.(304-306)caG>caA	p.Q102Q		NM_016272.3	NP_057356.1	Q14106	TOB2_HUMAN	transducer of ERBB2, 2	102					female gamete generation (GO:0007292)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoclast differentiation (GO:0045671)|positive regulation of ossification (GO:0045778)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						TCTCACCAATCTGGTAGGACA	0.582																																						dbGAP											0													85.0	75.0	78.0					22																	41833044		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D64109	CCDS14015.1	22q13.2	2010-02-26			ENSG00000183864	ENSG00000183864			11980	protein-coding gene	gene with protein product		607396		TROB2		10602502, 10591208	Standard	XM_005261315		Approved	TOBL, TOB4, bK223H9	uc003azz.1	Q14106	OTTHUMG00000150970	ENST00000327492.3:c.306G>A	22.37:g.41833044C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6FHR7|Q6PIT9|Q9BY97|Q9UBI0	Silent	SNP	pfam_Anti_prolifrtn,pfam_Ataxin-2_C,smart_Anti_prolifrtn,prints_Anti_prolifrtn	p.Q102	ENST00000327492.3	37	c.306	CCDS14015.1	22																																																																																			TOB2	-	pfam_Anti_prolifrtn,smart_Anti_prolifrtn,prints_Anti_prolifrtn	ENSG00000183864		0.582	TOB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOB2	HGNC	protein_coding	OTTHUMT00000320699.1	66	0.00	0	C	NM_016272		41833044	41833044	-1	no_errors	ENST00000327492	ensembl	human	known	69_37n	silent	73	22.34	21	SNP	1.000	T
TOMM6	100188893	genome.wustl.edu	37	6	41755473	41755473	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:41755473C>G	ENST00000398884.3	+	1	74	c.38C>G	c.(37-39)tCg>tGg	p.S13W	TOMM6_ENST00000398881.3_Missense_Mutation_p.S13W	NM_001134493.1	NP_001127965.1	Q96B49	TOM6_HUMAN	translocase of outer mitochondrial membrane 6 homolog (yeast)	13					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)											GCTGCTGGCTCGGCTAATGAA	0.592											OREG0004074|OREG0017435	type=REGULATORY REGION|Gene=C6orf49|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													46.0	43.0	44.0					6																	41755473		692	1591	2283	-	-	-	SO:0001583	missense	0			AF216754	CCDS47424.1	6p21.1	2010-08-05			ENSG00000214736	ENSG00000214736			34528	protein-coding gene	gene with protein product	"""over-expressed breast tumor protein"""					18331822	Standard	NM_001134493		Approved	OBTP	uc011dug.1	Q96B49	OTTHUMG00000137505	ENST00000398884.3:c.38C>G	6.37:g.41755473C>G	ENSP00000381859:p.Ser13Trp	Somatic	903	WXS	Illumina GAIIx	Phase_IV	B2DG15|Q9UH52	Missense_Mutation	SNP	NULL	p.S13W	ENST00000398884.3	37	c.38	CCDS47424.1	6	.	.	.	.	.	.	.	.	.	.	C	12.83	2.055424	0.36277	.	.	ENSG00000214736	ENST00000398884;ENST00000398881	.	.	.	5.25	4.35	0.52113	.	1.236790	0.06541	N	0.743246	T	0.14917	0.0360	.	.	.	0.09310	N	1	P	0.42827	0.791	B	0.40940	0.344	T	0.20874	-1.0262	8	0.56958	D	0.05	-0.0781	5.2628	0.15584	0.1962:0.681:0.0:0.1228	.	13	Q96B49	TOM6_HUMAN	W	13	.	ENSP00000381856:S13W	S	+	2	0	TOMM6	41863451	0.013000	0.17824	0.003000	0.11579	0.086000	0.17979	2.752000	0.47516	1.513000	0.48852	0.655000	0.94253	TCG	TOMM6	-	NULL	ENSG00000214736		0.592	TOMM6-001	NOVEL	basic|appris_principal|CCDS	protein_coding	TOMM6	HGNC	protein_coding	OTTHUMT00000268822.1	41	0.00	0	C			41755473	41755473	+1	no_errors	ENST00000398881	ensembl	human	novel	69_37n	missense	23	25.81	8	SNP	0.002	G
TOP1	7150	genome.wustl.edu	37	20	39704876	39704876	+	Nonsense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:39704876C>G	ENST00000361337.2	+	4	471	c.221C>G	c.(220-222)tCa>tGa	p.S74*		NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	74	Lys-rich.				chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|DNA topological change (GO:0006265)|embryonic cleavage (GO:0040016)|phosphorylation (GO:0016310)|programmed cell death (GO:0012501)|response to drug (GO:0042493)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|replication fork protection complex (GO:0031298)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|poly(A) RNA binding (GO:0044822)			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Sodium stibogluconate(DB05630)|Topotecan(DB01030)	gatggaagctcagaaaagcat	0.388			T	NUP98	AML*																																	dbGAP		Dom	yes		20	20q12-q13.1	7150	topoisomerase (DNA) I		L	0													137.0	129.0	131.0					20																	39704876		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS13312.1	20q12-q13.1	1990-06-22			ENSG00000198900	ENSG00000198900	5.99.1.2		11986	protein-coding gene	gene with protein product		126420					Standard	NM_003286		Approved		uc010ggd.1	P11387	OTTHUMG00000033057	ENST00000361337.2:c.221C>G	20.37:g.39704876C>G	ENSP00000354522:p.Ser74*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KA78|E1P5W3|O43256|Q12855|Q12856|Q15610|Q5TFY3|Q9UJN0	Nonsense_Mutation	SNP	pfam_TopoI_DNA-bd_euk,pfam_TopoI_cat_euk,superfamily_TopoI_DNA-bd_euk,superfamily_DNA_brk_join_enz,superfamily_TopoI_insert_euk,smart_TopoI_euk,prints_TopoI	p.S74*	ENST00000361337.2	37	c.221	CCDS13312.1	20	.	.	.	.	.	.	.	.	.	.	C	37	6.330794	0.97480	.	.	ENSG00000198900	ENST00000361337	.	.	.	5.11	5.11	0.69529	.	1.006310	0.07988	N	0.986659	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-0.0505	14.2251	0.65853	0.0:1.0:0.0:0.0	.	.	.	.	X	74	.	ENSP00000354522:S74X	S	+	2	0	TOP1	39138290	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.303000	0.51858	2.826000	0.97356	0.655000	0.94253	TCA	TOP1	-	NULL	ENSG00000198900		0.388	TOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOP1	HGNC	protein_coding	OTTHUMT00000080397.2	128	0.00	0	C			39704876	39704876	+1	no_errors	ENST00000361337	ensembl	human	known	69_37n	nonsense	152	16.48	30	SNP	1.000	G
TOP2B	7155	genome.wustl.edu	37	3	25665837	25665837	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:25665837G>A	ENST00000264331.4	-	20	2445	c.2446C>T	c.(2446-2448)Cat>Tat	p.H816Y	TOP2B_ENST00000435706.2_Missense_Mutation_p.H811Y	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	816					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	TTGCCACCATGAAGCCGAGTT	0.373																																						dbGAP											0													161.0	155.0	157.0					3																	25665837		1917	4149	6066	-	-	-	SO:0001583	missense	0			X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"""topoisomerase (DNA) II beta (180kD)"""			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.2446C>T	3.37:g.25665837G>A	ENSP00000264331:p.His816Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13600|Q9UMG8|Q9UQP8	Missense_Mutation	SNP	pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_ATPase-like_ATP-bd,superfamily_Topo_IIA_cen,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_CBFA/NFYB_topo	p.H816Y	ENST00000264331.4	37	c.2446		3	.	.	.	.	.	.	.	.	.	.	G	19.52	3.842734	0.71488	.	.	ENSG00000077097	ENST00000435706;ENST00000264331;ENST00000424225	T;T	0.44083	0.93;0.93	5.63	5.63	0.86233	.	0.043786	0.85682	D	0.000000	T	0.52661	0.1748	M	0.72894	2.215	0.80722	D	1	P	0.43094	0.799	P	0.45712	0.491	T	0.46978	-0.9152	10	0.32370	T	0.25	-17.3834	20.0259	0.97522	0.0:0.0:1.0:0.0	.	811	Q02880-2	.	Y	811;816;811	ENSP00000396704:H811Y;ENSP00000264331:H816Y	ENSP00000264331:H816Y	H	-	1	0	TOP2B	25640841	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.205000	0.58466	2.805000	0.96524	0.650000	0.86243	CAT	TOP2B	-	pfam_Topo_IIA_A/C,superfamily_Topo_IIA_cen,smart_Topo_IIA_A/C,prints_TopoII_euk	ENSG00000077097		0.373	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	TOP2B	HGNC	protein_coding		117	0.00	0	G			25665837	25665837	-1	no_errors	ENST00000264331	ensembl	human	known	69_37n	missense	110	16.67	22	SNP	1.000	A
TOP2B	7155	genome.wustl.edu	37	3	25670621	25670621	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:25670621G>A	ENST00000264331.4	-	14	1704	c.1705C>T	c.(1705-1707)Cac>Tac	p.H569Y	TOP2B_ENST00000435706.2_Missense_Mutation_p.H564Y	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	569	Toprim. {ECO:0000255|PROSITE- ProRule:PRU00995}.				ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	CCTTTTATGTGAGAACCATCT	0.284																																						dbGAP											0													107.0	102.0	104.0					3																	25670621		1794	4061	5855	-	-	-	SO:0001583	missense	0			X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"""topoisomerase (DNA) II beta (180kD)"""			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.1705C>T	3.37:g.25670621G>A	ENSP00000264331:p.His569Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13600|Q9UMG8|Q9UQP8	Missense_Mutation	SNP	pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_ATPase-like_ATP-bd,superfamily_Topo_IIA_cen,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_CBFA/NFYB_topo	p.H569Y	ENST00000264331.4	37	c.1705		3	.	.	.	.	.	.	.	.	.	.	G	24.7	4.555640	0.86231	.	.	ENSG00000077097	ENST00000435706;ENST00000264331;ENST00000424225	T;T	0.74421	-0.83;-0.84	5.19	5.19	0.71726	.	0.091379	0.85682	D	0.000000	D	0.93602	0.7957	H	0.99939	4.995	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96830	0.9610	10	0.87932	D	0	-5.6743	19.0655	0.93108	0.0:0.0:1.0:0.0	.	564	Q02880-2	.	Y	564;569;564	ENSP00000396704:H564Y;ENSP00000264331:H569Y	ENSP00000264331:H569Y	H	-	1	0	TOP2B	25645625	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.571000	0.86741	0.650000	0.86243	CAC	TOP2B	-	superfamily_Topo_IIA_cen,smart_Topo_IIA,prints_Topo_IIA	ENSG00000077097		0.284	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	TOP2B	HGNC	protein_coding		126	0.00	0	G			25670621	25670621	-1	no_errors	ENST00000264331	ensembl	human	known	69_37n	missense	90	17.43	19	SNP	1.000	A
TOP2B	7155	genome.wustl.edu	37	3	25671813	25671813	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:25671813delG	ENST00000264331.4	-	12	1552	c.1553delC	c.(1552-1554)tctfs	p.S518fs	TOP2B_ENST00000435706.2_Frame_Shift_Del_p.S513fs	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	518	Toprim. {ECO:0000255|PROSITE- ProRule:PRU00995}.				ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	CTGTTTATGAGAAGCTTCCCG	0.373																																						dbGAP											0													57.0	54.0	55.0					3																	25671813		1621	3525	5146	-	-	-	SO:0001589	frameshift_variant	0			X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"""topoisomerase (DNA) II beta (180kD)"""			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.1553delC	3.37:g.25671813delG	ENSP00000264331:p.Ser518fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13600|Q9UMG8|Q9UQP8	Frame_Shift_Del	DEL	pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_ATPase-like_ATP-bd,superfamily_Topo_IIA_cen,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_CBFA/NFYB_topo	p.S518fs	ENST00000264331.4	37	c.1553		3																																																																																			TOP2B	-	superfamily_Topo_IIA_cen,smart_Topo_IIA	ENSG00000077097		0.373	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	TOP2B	HGNC	protein_coding		74	0.00	0	G			25671813	25671813	-1	no_errors	ENST00000264331	ensembl	human	known	69_37n	frame_shift_del	101	14.88	18	DEL	1.000	-
TOP2B	7155	genome.wustl.edu	37	3	25674016	25674016	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:25674016G>A	ENST00000264331.4	-	10	1186	c.1187C>T	c.(1186-1188)tCt>tTt	p.S396F	TOP2B_ENST00000435706.2_Missense_Mutation_p.S391F	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	396					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	CTTAGTCTGAGAATCAAAAGT	0.318																																						dbGAP											0													34.0	31.0	32.0					3																	25674016		1779	4054	5833	-	-	-	SO:0001583	missense	0			X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"""topoisomerase (DNA) II beta (180kD)"""			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.1187C>T	3.37:g.25674016G>A	ENSP00000264331:p.Ser396Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13600|Q9UMG8|Q9UQP8	Missense_Mutation	SNP	pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_ATPase-like_ATP-bd,superfamily_Topo_IIA_cen,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_CBFA/NFYB_topo	p.S396F	ENST00000264331.4	37	c.1187		3	.	.	.	.	.	.	.	.	.	.	G	25.3	4.619460	0.87460	.	.	ENSG00000077097	ENST00000435706;ENST00000264331;ENST00000424225	T;T	0.59083	0.29;0.29	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.83385	0.5243	H	0.95645	3.7	0.80722	D	1	D	0.65815	0.995	D	0.68483	0.958	D	0.88661	0.3189	10	0.87932	D	0	-11.5529	18.8976	0.92430	0.0:0.0:1.0:0.0	.	391	Q02880-2	.	F	391;396;391	ENSP00000396704:S391F;ENSP00000264331:S396F	ENSP00000264331:S396F	S	-	2	0	TOP2B	25649020	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.812000	0.99227	2.443000	0.82685	0.650000	0.86243	TCT	TOP2B	-	pfam_Topo_IIA_bsu_dom2,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA	ENSG00000077097		0.318	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	TOP2B	HGNC	protein_coding		108	0.00	0	G			25674016	25674016	-1	no_errors	ENST00000264331	ensembl	human	known	69_37n	missense	107	15.08	19	SNP	1.000	A
TOPBP1	11073	genome.wustl.edu	37	3	133329973	133329973	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:133329973C>G	ENST00000260810.5	-	25	4179	c.4048G>C	c.(4048-4050)Gaa>Caa	p.E1350Q		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1350	BRCT 7. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						CTTCCCCATTCATAGTCTTCT	0.443								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)	dbGAP											0													135.0	124.0	127.0					3																	133329973		1862	4104	5966	-	-	-	SO:0001583	missense	0			AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.4048G>C	3.37:g.133329973C>G	ENSP00000260810:p.Glu1350Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z7W8|Q7LGC1|Q9UEB9	Missense_Mutation	SNP	pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom	p.E1350Q	ENST00000260810.5	37	c.4048	CCDS46919.1	3	.	.	.	.	.	.	.	.	.	.	C	26.1	4.702589	0.88924	.	.	ENSG00000163781	ENST00000260810	T	0.60424	0.19	5.39	5.39	0.77823	BRCT (2);	0.000000	0.85682	D	0.000000	T	0.79040	0.4379	M	0.82433	2.59	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.80216	-0.1474	10	0.49607	T	0.09	.	19.1514	0.93491	0.0:1.0:0.0:0.0	.	1350	Q92547	TOPB1_HUMAN	Q	1350	ENSP00000260810:E1350Q	ENSP00000260810:E1350Q	E	-	1	0	TOPBP1	134812663	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.639000	0.74314	2.526000	0.85167	0.591000	0.81541	GAA	TOPBP1	-	superfamily_BRCT_dom,pfscan_BRCT_dom	ENSG00000163781		0.443	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOPBP1	HGNC	protein_coding	OTTHUMT00000357254.1	144	0.00	0	C	NM_007027		133329973	133329973	-1	no_errors	ENST00000260810	ensembl	human	known	69_37n	missense	162	19.80	40	SNP	1.000	G
TOPBP1	11073	genome.wustl.edu	37	3	133362081	133362081	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:133362081C>G	ENST00000260810.5	-	12	2115	c.1984G>C	c.(1984-1986)Gag>Cag	p.E662Q	TOPBP1_ENST00000511439.1_5'Flank	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	662	BRCT 5. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						GTTAAAGACTCTTTTTCTGCT	0.368								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)	dbGAP											0													110.0	108.0	109.0					3																	133362081		1864	4104	5968	-	-	-	SO:0001583	missense	0			AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.1984G>C	3.37:g.133362081C>G	ENSP00000260810:p.Glu662Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z7W8|Q7LGC1|Q9UEB9	Missense_Mutation	SNP	pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom	p.E662Q	ENST00000260810.5	37	c.1984	CCDS46919.1	3	.	.	.	.	.	.	.	.	.	.	C	28.8	4.955799	0.92726	.	.	ENSG00000163781	ENST00000260810	D	0.82984	-1.67	5.86	5.86	0.93980	BRCT (4);	0.237014	0.49305	D	0.000153	T	0.79650	0.4482	L	0.45352	1.415	0.53688	D	0.999973	B	0.24186	0.099	B	0.27500	0.08	T	0.73110	-0.4086	10	0.15952	T	0.53	.	20.2019	0.98263	0.0:1.0:0.0:0.0	.	662	Q92547	TOPB1_HUMAN	Q	662	ENSP00000260810:E662Q	ENSP00000260810:E662Q	E	-	1	0	TOPBP1	134844771	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	7.803000	0.85983	2.776000	0.95493	0.655000	0.94253	GAG	TOPBP1	-	pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	ENSG00000163781		0.368	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOPBP1	HGNC	protein_coding	OTTHUMT00000357254.1	56	0.00	0	C	NM_007027		133362081	133362081	-1	no_errors	ENST00000260810	ensembl	human	known	69_37n	missense	72	14.29	12	SNP	1.000	G
TOR1A	1861	genome.wustl.edu	37	9	132584995	132584995	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:132584995C>T	ENST00000351698.4	-	2	357	c.309G>A	c.(307-309)tgG>tgA	p.W103*	TOR1A_ENST00000473084.1_5'UTR	NM_000113.2	NP_000104.1	O14656	TOR1A_HUMAN	torsin family 1, member A (torsin A)	103	Interaction with SNAPIN.				ATP catabolic process (GO:0006200)|cell adhesion (GO:0007155)|chaperone mediated protein folding requiring cofactor (GO:0051085)|chaperone-mediated protein folding (GO:0061077)|chaperone-mediated protein transport (GO:0072321)|ER-associated misfolded protein catabolic process (GO:0071712)|intermediate filament cytoskeleton organization (GO:0045104)|neuron projection development (GO:0031175)|nuclear envelope organization (GO:0006998)|nuclear membrane organization (GO:0071763)|organelle organization (GO:0006996)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|protein deneddylation (GO:0000338)|protein homooligomerization (GO:0051260)|protein localization to nucleus (GO:0034504)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of protein localization to cell surface (GO:2000008)|response to oxidative stress (GO:0006979)|synaptic vesicle transport (GO:0048489)|wound healing, spreading of cells (GO:0044319)	cell junction (GO:0030054)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cytoskeletal protein binding (GO:0008092)|kinesin binding (GO:0019894)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20		Ovarian(14;0.00556)				CGGTGCCTGTCCACCCGTGCA	0.473																																						dbGAP											0													226.0	202.0	210.0					9																	132584995		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF007871	CCDS6930.1	9q32-q34	2008-07-21	2004-11-24	2004-11-26	ENSG00000136827	ENSG00000136827			3098	protein-coding gene	gene with protein product		605204	"""dystonia 1, torsion (autosomal dominant; torsin A)"""	DYT1		10644435	Standard	NM_000113		Approved	DQ2	uc004byl.3	O14656	OTTHUMG00000020794	ENST00000351698.4:c.309G>A	9.37:g.132584995C>T	ENSP00000345719:p.Trp103*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RB58|Q53Y64|Q96CA0	Nonsense_Mutation	SNP	pfam_Torsin,pirsf_Torsin_subgr	p.W103*	ENST00000351698.4	37	c.309	CCDS6930.1	9	.	.	.	.	.	.	.	.	.	.	C	18.13	3.554963	0.65425	.	.	ENSG00000136827	ENST00000351698	.	.	.	5.21	5.21	0.72293	.	0.121517	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.1902	17.7332	0.88384	0.0:1.0:0.0:0.0	.	.	.	.	X	103	.	ENSP00000345719:W103X	W	-	3	0	TOR1A	131624816	1.000000	0.71417	0.995000	0.50966	0.016000	0.09150	7.484000	0.81180	2.439000	0.82584	0.561000	0.74099	TGG	TOR1A	-	pfam_Torsin,pirsf_Torsin_subgr	ENSG00000136827		0.473	TOR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOR1A	HGNC	protein_coding	OTTHUMT00000054611.1	194	0.00	0	C	NM_000113		132584995	132584995	-1	no_errors	ENST00000351698	ensembl	human	known	69_37n	nonsense	182	17.19	38	SNP	1.000	T
TOX2	84969	genome.wustl.edu	37	20	42695386	42695386	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:42695386C>G	ENST00000358131.5	+	7	1527	c.1319C>G	c.(1318-1320)tCt>tGt	p.S440C	TOX2_ENST00000372999.1_Missense_Mutation_p.S416C|TOX2_ENST00000341197.4_Missense_Mutation_p.S458C|TOX2_ENST00000423191.2_Missense_Mutation_p.S416C|TOX2_ENST00000435864.2_3'UTR	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	440	Pro-rich.				female gonad development (GO:0008585)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to gonadotropin (GO:0034698)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			CCGCACATCTCTGAGTTCCCC	0.647																																						dbGAP											0													144.0	135.0	138.0					20																	42695386		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20					16095	protein-coding gene	gene with protein product	"""granulosa cell HMG box 1"""	611163	"""chromosome 20 open reading frame 100"""	C20orf100		14764631	Standard	NM_001098796		Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.1319C>G	20.37:g.42695386C>G	ENSP00000350849:p.Ser440Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1J1|E1P5X0|G3XAC7|Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.S458C	ENST00000358131.5	37	c.1373	CCDS42875.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.35|18.35	3.603852|3.603852	0.66445|0.66445	.|.	.|.	ENSG00000124191|ENSG00000124191	ENST00000372992;ENST00000413823|ENST00000341197;ENST00000423191;ENST00000372999;ENST00000358131;ENST00000435864	.|T;T;T;T;T	.|0.24538	.|2.64;2.64;2.64;1.85;2.38	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	.|0.743134	.|0.13767	.|N	.|0.364163	T|T	0.42268|0.42268	0.1195|0.1195	L|L	0.46157|0.46157	1.445|1.445	0.51767|0.51767	D|D	0.999934|0.999934	.|P;D;D;D	.|0.67145	.|0.698;0.996;0.993;0.993	.|B;P;P;P	.|0.59288	.|0.241;0.855;0.72;0.72	T|T	0.06356|0.06356	-1.0831|-1.0831	6|10	0.87932|0.46703	D|T	0|0.11	.|.	16.7273|16.7273	0.85426|0.85426	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|336;458;440;416	.|B4DQV8;G3XAC7;Q96NM4;E1P5X0	.|.;.;TOX2_HUMAN;.	V|C	65|458;416;416;440;336	.|ENSP00000344724:S458C;ENSP00000390278:S416C;ENSP00000362090:S416C;ENSP00000350849:S440C;ENSP00000396777:S336C	ENSP00000362083:L65V|ENSP00000344724:S458C	L|S	+|+	1|2	2|0	TOX2|TOX2	42128800|42128800	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.661000|0.661000	0.39034|0.39034	7.151000|7.151000	0.77411|0.77411	2.600000|2.600000	0.87896|0.87896	0.655000|0.655000	0.94253|0.94253	CTG|TCT	TOX2	-	NULL	ENSG00000124191		0.647	TOX2-001	KNOWN	basic|CCDS	protein_coding	TOX2	HGNC	protein_coding	OTTHUMT00000079329.2	78	0.00	0	C			42695386	42695386	+1	no_errors	ENST00000341197	ensembl	human	known	69_37n	missense	110	14.73	19	SNP	1.000	G
TP53BP1	7158	genome.wustl.edu	37	15	43707872	43707872	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:43707872G>A	ENST00000263801.3	-	23	5246	c.4994C>T	c.(4993-4995)tCa>tTa	p.S1665L	TP53BP1_ENST00000382044.4_Missense_Mutation_p.S1670L|TP53BP1_ENST00000450115.2_Missense_Mutation_p.S1670L|TP53BP1_ENST00000382039.3_Missense_Mutation_p.S1620L	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1665					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|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 transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)	p.S1665*(1)		breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TCTTTTGCCTGAGAGAACTCC	0.537								Other conserved DNA damage response genes																														dbGAP											1	Substitution - Nonsense(1)	lung(1)											155.0	142.0	146.0					15																	43707872		2201	4298	6499	-	-	-	SO:0001583	missense	0			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.4994C>T	15.37:g.43707872G>A	ENSP00000263801:p.Ser1665Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.S1670L	ENST00000263801.3	37	c.5009	CCDS10096.1	15	.	.	.	.	.	.	.	.	.	.	G	21.8	4.203993	0.79127	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115	T;T;T;T	0.05717	3.46;3.46;3.56;3.4	5.24	5.24	0.73138	BRCT (1);	0.135059	0.51477	D	0.000098	T	0.10294	0.0252	L	0.58101	1.795	0.58432	D	0.999998	P;B;B;B	0.35745	0.518;0.22;0.167;0.178	B;B;B;B	0.32149	0.141;0.036;0.053;0.053	T	0.03566	-1.1024	10	0.66056	D	0.02	-1.9812	19.1943	0.93681	0.0:0.0:1.0:0.0	.	1670;1665;1670;1670	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	L	1665;1670;1620;1670	ENSP00000263801:S1665L;ENSP00000371475:S1670L;ENSP00000371470:S1620L;ENSP00000393497:S1670L	ENSP00000263801:S1665L	S	-	2	0	TP53BP1	41495164	1.000000	0.71417	0.544000	0.28141	0.995000	0.86356	8.040000	0.89188	2.607000	0.88179	0.563000	0.77884	TCA	TP53BP1	-	smart_BRCT_dom	ENSG00000067369		0.537	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TP53BP1	HGNC	protein_coding	OTTHUMT00000132897.3	80	0.00	0	G			43707872	43707872	-1	no_errors	ENST00000382044	ensembl	human	known	69_37n	missense	63	24.10	20	SNP	0.974	A
TP53BP1	7158	genome.wustl.edu	37	15	43708564	43708564	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:43708564C>G	ENST00000263801.3	-	22	4969	c.4717G>C	c.(4717-4719)Gaa>Caa	p.E1573Q	TP53BP1_ENST00000382044.4_Missense_Mutation_p.E1578Q|TP53BP1_ENST00000450115.2_Missense_Mutation_p.E1578Q|TP53BP1_ENST00000382039.3_Missense_Mutation_p.E1528Q	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1573	Tudor-like.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|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 transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CCTTCTTTTTCAATGCTGTAG	0.483								Other conserved DNA damage response genes																														dbGAP											0													167.0	144.0	152.0					15																	43708564		2201	4298	6499	-	-	-	SO:0001583	missense	0			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.4717G>C	15.37:g.43708564C>G	ENSP00000263801:p.Glu1573Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.E1578Q	ENST00000263801.3	37	c.4732	CCDS10096.1	15	.	.	.	.	.	.	.	.	.	.	C	34	5.293945	0.95546	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115	T;T;T;T	0.55588	0.51;0.51;0.51;0.51	5.87	5.87	0.94306	Translation protein SH3-like, subgroup (1);Tumour suppressor p53-binding protein-1 Tudor (1);	0.000000	0.85682	D	0.000000	T	0.65344	0.2682	L	0.29908	0.895	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.999;0.999	T	0.66027	-0.6025	10	0.72032	D	0.01	-16.0221	20.5827	0.99408	0.0:1.0:0.0:0.0	.	1578;1573;1578;1578	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	Q	1573;1578;1528;1578	ENSP00000263801:E1573Q;ENSP00000371475:E1578Q;ENSP00000371470:E1528Q;ENSP00000393497:E1578Q	ENSP00000263801:E1573Q	E	-	1	0	TP53BP1	41495856	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.398000	0.79919	2.941000	0.99782	0.655000	0.94253	GAA	TP53BP1	-	pfam_53-BP1_Tudor	ENSG00000067369		0.483	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TP53BP1	HGNC	protein_coding	OTTHUMT00000132897.3	117	0.00	0	C			43708564	43708564	-1	no_errors	ENST00000382044	ensembl	human	known	69_37n	missense	87	18.69	20	SNP	1.000	G
TP53BP1	7158	genome.wustl.edu	37	15	43748606	43748606	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:43748606G>C	ENST00000263801.3	-	12	2437	c.2185C>G	c.(2185-2187)Caa>Gaa	p.Q729E	TP53BP1_ENST00000382044.4_Missense_Mutation_p.Q734E|TP53BP1_ENST00000605155.1_5'Flank|TP53BP1_ENST00000450115.2_Missense_Mutation_p.Q734E|TP53BP1_ENST00000382039.3_Missense_Mutation_p.Q734E	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	729					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|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 transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GCCAACTTTTGAGGGGAATCA	0.408								Other conserved DNA damage response genes																														dbGAP											0													100.0	102.0	101.0					15																	43748606		2201	4298	6499	-	-	-	SO:0001583	missense	0			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.2185C>G	15.37:g.43748606G>C	ENSP00000263801:p.Gln729Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.Q734E	ENST00000263801.3	37	c.2200	CCDS10096.1	15	.	.	.	.	.	.	.	.	.	.	G	2.726	-0.265444	0.05754	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115;ENST00000413546	T;T;T;T;T	0.10382	3.75;3.75;3.75;3.75;2.88	5.03	3.03	0.35002	.	0.508972	0.19487	N	0.113091	T	0.05227	0.0139	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.27823	0.19;0.043;0.149;0.149	B;B;B;B	0.24394	0.053;0.014;0.047;0.047	T	0.38415	-0.9662	10	0.02654	T	1	0.1646	9.2853	0.37753	0.0:0.1271:0.6632:0.2097	.	734;729;734;734	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	E	729;734;734;734;734	ENSP00000263801:Q729E;ENSP00000371475:Q734E;ENSP00000371470:Q734E;ENSP00000393497:Q734E;ENSP00000388028:Q734E	ENSP00000263801:Q729E	Q	-	1	0	TP53BP1	41535898	0.002000	0.14202	0.287000	0.24848	0.314000	0.28054	1.122000	0.31295	2.487000	0.83934	0.563000	0.77884	CAA	TP53BP1	-	NULL	ENSG00000067369		0.408	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TP53BP1	HGNC	protein_coding	OTTHUMT00000132897.3	44	0.00	0	G			43748606	43748606	-1	no_errors	ENST00000382044	ensembl	human	known	69_37n	missense	22	33.33	11	SNP	0.003	C
TP53BP2	7159	genome.wustl.edu	37	1	223987695	223987695	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:223987695G>A	ENST00000343537.7	-	11	1682	c.1391C>T	c.(1390-1392)tCa>tTa	p.S464L	TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391878.2_Missense_Mutation_p.S335L|TP53BP2_ENST00000391879.2_5'UTR	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	458					cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		ATCAAACATTGAGAACGGACG	0.438																																						dbGAP											0													202.0	171.0	181.0					1																	223987695		2203	4300	6503	-	-	-	SO:0001583	missense	0			U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	12000	protein-coding gene	gene with protein product		602143	"""tumor protein p53-binding protein, 2"""			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.1391C>T	1.37:g.223987695G>A	ENSP00000341957:p.Ser464Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DG66|Q12892|Q86X75|Q96KQ3	Nonsense_Mutation	SNP	NULL	p.Q28*	ENST00000343537.7	37	c.82	CCDS44319.1	1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.045385	0.75846	.	.	ENSG00000143514	ENST00000391878;ENST00000343537	T;T	0.51325	0.71;0.88	5.8	5.8	0.92144	.	0.113172	0.64402	D	0.000007	T	0.70842	0.3270	M	0.73598	2.24	0.80722	D	1	D;B	0.76494	0.999;0.402	D;B	0.78314	0.991;0.074	T	0.70978	-0.4725	10	0.56958	D	0.05	.	20.0693	0.97712	0.0:0.0:1.0:0.0	.	464;458	B4DG66;Q13625	.;ASPP2_HUMAN	L	335;464	ENSP00000375750:S335L;ENSP00000341957:S464L	ENSP00000341957:S464L	S	-	2	0	TP53BP2	222054318	1.000000	0.71417	0.182000	0.23118	0.056000	0.15407	9.194000	0.94962	2.758000	0.94735	0.563000	0.77884	TCA	TP53BP2	-	NULL	ENSG00000143514		0.438	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53BP2	HGNC	protein_coding	OTTHUMT00000090985.3	175	0.00	0	G	NM_001031685, NM_005426		223987695	223987695	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000464656	ensembl	human	known	69_37n	nonsense	182	18.02	40	SNP	0.999	A
TP53I3	9540	genome.wustl.edu	37	2	24302332	24302332	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:24302332C>G	ENST00000238721.4	-	4	1652	c.798G>C	c.(796-798)ctG>ctC	p.L266L	TP53I3_ENST00000335934.4_Silent_p.L266L|TP53I3_ENST00000407482.1_Intron|TP53I3_ENST00000313482.4_Intron|FAM228B_ENST00000461972.1_Intron|TP53I3_ENST00000417886.1_5'Flank	NM_004881.4	NP_004872.2	Q53FA7	QORX_HUMAN	tumor protein p53 inducible protein 3	266					NADP metabolic process (GO:0006739)	extracellular vesicular exosome (GO:0070062)	NADPH binding (GO:0070402)|NADPH:quinone reductase activity (GO:0003960)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(2)|lung(3)|urinary_tract(2)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCTAGACCTCAGCAAACTGG	0.438																																						dbGAP											0													136.0	133.0	134.0					2																	24302332		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF010309	CCDS1708.1, CCDS56112.1	2p23.3	2009-06-12			ENSG00000115129	ENSG00000115129			19373	protein-coding gene	gene with protein product		605171				11919562, 10840161, 19349281	Standard	NM_004881		Approved	PIG3	uc002rez.2	Q53FA7	OTTHUMG00000090817	ENST00000238721.4:c.798G>C	2.37:g.24302332C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	D6W533|O14679|O14685|Q38G78|Q6JLE7|Q9BWB8	Silent	SNP	pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER,tigrfam_Quinone_OxRdtase_PIG3	p.L266	ENST00000238721.4	37	c.798	CCDS1708.1	2																																																																																			TP53I3	-	pfam_ADH_C,smart_PKS_ER,tigrfam_Quinone_OxRdtase_PIG3	ENSG00000115129		0.438	TP53I3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53I3	HGNC	protein_coding	OTTHUMT00000207618.2	127	0.00	0	C	NM_004881		24302332	24302332	-1	no_errors	ENST00000238721	ensembl	human	known	69_37n	silent	94	22.95	28	SNP	0.978	G
TPI1	7167	genome.wustl.edu	37	12	6979278	6979278	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:6979278G>A	ENST00000229270.4	+	6	1057	c.720G>A	c.(718-720)caG>caA	p.Q240Q	TPI1_ENST00000396705.5_Silent_p.Q203Q|TPI1_ENST00000535434.1_Silent_p.Q121Q|TPI1_ENST00000488464.2_Silent_p.Q121Q	NM_001159287.1	NP_001152759.1	P60174	TPIS_HUMAN	triosephosphate isomerase 1	240					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glyceraldehyde-3-phosphate metabolic process (GO:0019682)|glycolytic process (GO:0006096)|multicellular organismal development (GO:0007275)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	triose-phosphate isomerase activity (GO:0004807)			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						CGGTGGCTCAGAGCACCCGTA	0.562											OREG0021638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													121.0	116.0	117.0					12																	6979278		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS8566.1, CCDS53740.1, CCDS58206.1	12p13.31	2012-10-02			ENSG00000111669	ENSG00000111669	5.3.1.1		12009	protein-coding gene	gene with protein product		190450					Standard	NM_000365		Approved		uc001qrk.4	P60174	OTTHUMG00000133767	ENST00000229270.4:c.720G>A	12.37:g.6979278G>A		Somatic	638	WXS	Illumina GAIIx	Phase_IV	B7Z5D8|D3DUS9|P00938|Q6FHP9|Q6IS07|Q8WWD0|Q96AG5	Silent	SNP	pfam_Triosephosphate_isomerase,superfamily_Triosephosphate_isomerase,tigrfam_Triosephosphate_isomerase	p.Q240	ENST00000229270.4	37	c.720	CCDS53740.1	12																																																																																			TPI1	-	pfam_Triosephosphate_isomerase,superfamily_Triosephosphate_isomerase,tigrfam_Triosephosphate_isomerase	ENSG00000111669		0.562	TPI1-001	KNOWN	basic|CCDS	protein_coding	TPI1	HGNC	protein_coding	OTTHUMT00000258252.1	80	0.00	0	G	NM_000365		6979278	6979278	+1	no_errors	ENST00000229270	ensembl	human	known	69_37n	silent	44	31.25	20	SNP	1.000	A
TPM3	7170	genome.wustl.edu	37	1	154164459	154164459	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:154164459C>T	ENST00000368530.2	-	1	228	c.36G>A	c.(34-36)ctG>ctA	p.L12L	MIR190B_ENST00000401119.1_RNA|TPM3_ENST00000271850.7_Silent_p.L12L	NM_152263.2	NP_689476.2	P06753	TPM3_HUMAN	tropomyosin 3	12					cellular component movement (GO:0006928)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle thin filament tropomyosin (GO:0005862)|stress fiber (GO:0001725)			TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					TGTCTAACTTCAGCATCTGCA	0.498			T	"""NTRK1, ALK, ROS1"""	"""papillary thyroid, ALCL, NSCLC"""																																	dbGAP		Dom	yes		1	1q22-q23	7170	tropomyosin 3		"""E, L"""	0													172.0	162.0	166.0					1																	154164459		2102	4246	6348	-	-	-	SO:0001819	synonymous_variant	0			BC008425	CCDS1060.1, CCDS41400.1, CCDS41401.1, CCDS41402.1, CCDS41403.1, CCDS60274.1, CCDS60275.1, CCDS72922.1	1q21.2	2014-09-17			ENSG00000143549	ENSG00000143549		"""Tropomyosins"""	12012	protein-coding gene	gene with protein product		191030		NEM1		1829807	Standard	NM_153649		Approved	TRK	uc001fec.2	P06753	OTTHUMG00000035853	ENST00000368530.2:c.36G>A	1.37:g.154164459C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DV71|P12324|Q2QD06|Q5VU58|Q5VU63|Q5VU66|Q5VU71|Q5VU72|Q8TCG3|Q969Q2|Q9NQH8	Silent	SNP	pfam_Tropomyosin,prints_Tropomyosin	p.L12	ENST00000368530.2	37	c.36	CCDS41403.1	1																																																																																			TPM3	-	NULL	ENSG00000143549		0.498	TPM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPM3	HGNC	protein_coding	OTTHUMT00000087271.2	153	0.65	1	C	NM_152263		154164459	154164459	-1	no_errors	ENST00000368530	ensembl	human	known	69_37n	silent	179	17.89	39	SNP	1.000	T
TPO	7173	genome.wustl.edu	37	2	1497795	1497795	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:1497795C>G	ENST00000345913.4	+	11	2081	c.1990C>G	c.(1990-1992)Ctg>Gtg	p.L664V	TPO_ENST00000382201.3_Missense_Mutation_p.L607V|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000329066.4_Missense_Mutation_p.L664V|TPO_ENST00000346956.3_Missense_Mutation_p.L664V|TPO_ENST00000349624.3_Missense_Mutation_p.L491V|TPO_ENST00000382198.1_Missense_Mutation_p.L491V|TPO_ENST00000337415.3_Missense_Mutation_p.L664V	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	664					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)	GATGAAGGCTCTGCGGGACGG	0.582																																						dbGAP											0													91.0	87.0	88.0					2																	1497795		2203	4300	6503	-	-	-	SO:0001583	missense	0				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.1990C>G	2.37:g.1497795C>G	ENSP00000318820:p.Leu664Val	Somatic		WXS	Illumina GAIIx	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_EGF-like,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.L664V	ENST00000345913.4	37	c.1990	CCDS1643.1	2	.	.	.	.	.	.	.	.	.	.	C	14.19	2.461992	0.43736	.	.	ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464;ENST00000469607	T;T;T;T;T;T;T;T;T	0.72835	-0.69;-0.69;-0.69;-0.69;-0.69;-0.69;-0.69;-0.69;-0.69	4.84	3.96	0.45880	.	0.064314	0.64402	D	0.000005	D	0.83004	0.5160	M	0.79805	2.47	0.80722	D	1	D;D;D;D	0.76494	0.999;0.982;0.999;0.999	D;P;D;D	0.71656	0.957;0.79;0.968;0.974	D	0.84761	0.0762	10	0.59425	D	0.04	-22.8005	13.1039	0.59237	0.0:0.9216:0.0:0.0784	.	664;491;607;664	P07202-4;P07202-5;P07202-2;P07202	.;.;.;PERT_HUMAN	V	664;664;664;491;664;607;491;593;138	ENSP00000337263:L664V;ENSP00000318820:L664V;ENSP00000263886:L664V;ENSP00000332044:L491V;ENSP00000329869:L664V;ENSP00000371636:L607V;ENSP00000371633:L491V;ENSP00000405788:L593V;ENSP00000419461:L138V	ENSP00000329869:L664V	L	+	1	2	TPO	1476802	0.995000	0.38212	0.995000	0.50966	0.242000	0.25591	3.364000	0.52328	1.160000	0.42584	0.561000	0.74099	CTG	TPO	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal	ENSG00000115705		0.582	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPO	HGNC	protein_coding	OTTHUMT00000206594.2	49	0.00	0	C	NM_000547		1497795	1497795	+1	no_errors	ENST00000329066	ensembl	human	known	69_37n	missense	38	17.39	8	SNP	0.998	G
TPPP2	122664	genome.wustl.edu	37	14	21500191	21500191	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:21500191G>A	ENST00000321760.6	+	4	616	c.468G>A	c.(466-468)gtG>gtA	p.V156V	TPPP2_ENST00000530140.2_Silent_p.V156V|NDRG2_ENST00000403829.3_Intron|AL161668.5_ENST00000533984.1_lincRNA|RP11-998D10.1_ENST00000531638.1_5'Flank	NM_173846.4	NP_776245.2	P59282	TPPP2_HUMAN	tubulin polymerization-promoting protein family member 2	156						cytoplasm (GO:0005737)				endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		CAGGCTATGTGAGTGGTTACA	0.547																																						dbGAP											0													200.0	153.0	169.0					14																	21500191		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY072034	CCDS9566.1	14q11.2	2014-01-21	2007-05-02	2007-05-02	ENSG00000179636	ENSG00000179636			19293	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 8"""	C14orf8		15590652, 17105200	Standard	NM_173846		Approved	p25beta, p18, CT152	uc001vzh.3	P59282	OTTHUMG00000029642	ENST00000321760.6:c.468G>A	14.37:g.21500191G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2VYF3	Silent	SNP	pfam_P25-alpha	p.V156	ENST00000321760.6	37	c.468	CCDS9566.1	14																																																																																			TPPP2	-	pfam_P25-alpha	ENSG00000179636		0.547	TPPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPPP2	HGNC	protein_coding	OTTHUMT00000073914.3	92	0.00	0	G	NM_173846		21500191	21500191	+1	no_errors	ENST00000321760	ensembl	human	known	69_37n	silent	42	57.14	56	SNP	1.000	A
TPRG1L	127262	genome.wustl.edu	37	1	3542023	3542023	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:3542023C>T	ENST00000378344.2	+	2	308	c.237C>T	c.(235-237)cgC>cgT	p.R79R	RP11-46F15.2_ENST00000435049.1_RNA|TPRG1L_ENST00000344579.5_Silent_p.R79R	NM_182752.3	NP_877429.2	Q5T0D9	TPRGL_HUMAN	tumor protein p63 regulated 1-like	79						cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|synaptic vesicle (GO:0008021)				endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(1)	8	all_cancers(77;0.0119)|all_epithelial(69;0.00481)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172)	all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.41e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.83e-22)|GBM - Glioblastoma multiforme(42;4.77e-14)|Colorectal(212;1.12e-05)|COAD - Colon adenocarcinoma(227;5.61e-05)|Kidney(185;0.000351)|BRCA - Breast invasive adenocarcinoma(365;0.000688)|KIRC - Kidney renal clear cell carcinoma(229;0.00553)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.201)		AGGAGATCCGCGTGGTGGTGC	0.701																																						dbGAP											0													30.0	36.0	34.0					1																	3542023		2199	4295	6494	-	-	-	SO:0001819	synonymous_variant	0			BC019034	CCDS47.1	1p36.32	2008-02-05	2008-01-16	2008-01-16	ENSG00000158109	ENSG00000158109			27007	protein-coding gene	gene with protein product		611460	"""family with sequence similarity 79, member A"""	FAM79A		12477932	Standard	NM_182752		Approved	RP11-46F15.3, FLJ21811	uc001akm.3	Q5T0D9	OTTHUMG00000000609	ENST00000378344.2:c.237C>T	1.37:g.3542023C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1K4|Q8WV04	Silent	SNP	pfam_Inositol_phosphatase	p.R79	ENST00000378344.2	37	c.237	CCDS47.1	1																																																																																			TPRG1L	-	pfam_Inositol_phosphatase	ENSG00000158109		0.701	TPRG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPRG1L	HGNC	protein_coding	OTTHUMT00000001466.1	24	0.00	0	C	NM_182752		3542023	3542023	+1	no_errors	ENST00000378344	ensembl	human	known	69_37n	silent	5	44.44	4	SNP	0.779	T
TPR	7175	genome.wustl.edu	37	1	186304493	186304493	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:186304493C>T	ENST00000367478.4	-	34	5184	c.4888G>A	c.(4888-4890)Gag>Aag	p.E1630K		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1630					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)	p.E1631K(1)|p.E1630K(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TCTTGAGGCTCATCTCTCTGC	0.393			T	NTRK1	papillary thyroid																																	dbGAP		Dom	yes		1	1q25	7175	translocated promoter region		E	2	Substitution - Missense(2)	lung(2)											137.0	123.0	128.0					1																	186304493		1886	4125	6011	-	-	-	SO:0001583	missense	0			U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.4888G>A	1.37:g.186304493C>T	ENSP00000356448:p.Glu1630Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.E1630K	ENST00000367478.4	37	c.4888	CCDS41446.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.645335	0.96704	.	.	ENSG00000047410	ENST00000367478	T	0.26518	1.73	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.50888	0.1642	M	0.71581	2.175	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	T	0.43212	-0.9405	10	0.33940	T	0.23	.	18.8209	0.92097	0.0:1.0:0.0:0.0	.	1630	P12270	TPR_HUMAN	K	1630	ENSP00000356448:E1630K	ENSP00000356448:E1630K	E	-	1	0	TPR	184571116	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.136000	0.77285	2.510000	0.84645	0.650000	0.86243	GAG	TPR	-	superfamily_Prefoldin	ENSG00000047410		0.393	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPR	HGNC	protein_coding	OTTHUMT00000086353.2	115	0.00	0	C	NM_003292		186304493	186304493	-1	no_errors	ENST00000367478	ensembl	human	known	69_37n	missense	142	15.48	26	SNP	1.000	T
TPSB2	64499	genome.wustl.edu	37	16	1279626	1279626	+	RNA	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:1279626G>A	ENST00000339687.6	-	0	196				TPSB2_ENST00000430512.2_RNA|TPSB2_ENST00000445910.1_RNA			P20231	TRYB2_HUMAN	tryptase beta 2 (gene/pseudogene)							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			lung(1)|upper_aerodigestive_tract(1)	2		Hepatocellular(780;0.00369)				AGCCCCCGCAGAAGTGCATCC	0.687																																						dbGAP											0													34.0	44.0	40.0					16																	1279626		2147	4297	6444	-	-	-			0			AF099143		16p13.3	2009-11-20	2009-11-18		ENSG00000197253	ENSG00000197253			14120	protein-coding gene	gene with protein product	"""tryptase beta II"", ""tryptase beta III"""	191081	"""tryptase beta 2"""			19748655	Standard	NM_024164		Approved		uc002cky.3	P20231	OTTHUMG00000155926		16.37:g.1279626G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D2E6S0|D2E6S2|O95827|Q15664|Q9UQI6|Q9UQI7	Silent	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.F58	ENST00000339687.6	37	c.174		16																																																																																			TPSB2	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000197253		0.687	TPSB2-002	KNOWN	basic	processed_transcript	TPSB2	HGNC	polymorphic_pseudogene	OTTHUMT00000342364.1	49	0.00	0	G	NM_024164		1279626	1279626	-1	no_errors	ENST00000430512	ensembl	human	known	69_37n	silent	65	12.16	9	SNP	0.907	A
TPTE	7179	genome.wustl.edu	37	21	10914413	10914413	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr21:10914413C>T	ENST00000361285.4	-	21	1635	c.1306G>A	c.(1306-1308)Gaa>Aaa	p.E436K	TPTE_ENST00000342420.5_Missense_Mutation_p.E398K|TPTE_ENST00000298232.7_Missense_Mutation_p.E418K|TPTE_ENST00000415664.2_5'UTR	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	436	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTCTCCATTTCTATTTGGATT	0.318																																						dbGAP											0													91.0	78.0	83.0					21																	10914413		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1306G>A	21.37:g.10914413C>T	ENSP00000355208:p.Glu436Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.E436K	ENST00000361285.4	37	c.1306	CCDS13560.2	21	.	.	.	.	.	.	.	.	.	.	.	9.012	0.982687	0.18889	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.84800	-1.9;-1.9;-1.9	2.15	-0.307	0.12777	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.150933	0.56097	U	0.000031	T	0.64605	0.2613	N	0.08118	0	0.09310	N	1	B;B;B	0.13145	0.007;0.007;0.001	B;B;B	0.12837	0.004;0.005;0.008	T	0.53975	-0.8362	10	0.48119	T	0.1	-2.1767	4.27	0.10782	0.0:0.3786:0.0:0.6214	.	398;418;436	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	K	418;436;398	ENSP00000298232:E418K;ENSP00000355208:E436K;ENSP00000344441:E398K	ENSP00000298232:E418K	E	-	1	0	TPTE	9936284	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	-0.751000	0.04803	-0.068000	0.12953	0.184000	0.17185	GAA	TPTE	-	pfam_Tensin_phosphatase_C2-dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pfscan_Tensin_phosphatase_C2-dom	ENSG00000166157		0.318	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPTE	HGNC	protein_coding	OTTHUMT00000157413.1	160	0.00	0	C			10914413	10914413	-1	no_errors	ENST00000361285	ensembl	human	known	69_37n	missense	57	24.00	18	SNP	0.001	T
TPX2	22974	genome.wustl.edu	37	20	30370073	30370073	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:30370073C>T	ENST00000300403.6	+	11	1604	c.1076C>T	c.(1075-1077)tCt>tTt	p.S359F	TPX2_ENST00000340513.4_Missense_Mutation_p.S395F	NM_012112.4	NP_036244.2	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	359					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|regulation of mitotic spindle organization (GO:0060236)	axon hillock (GO:0043203)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			TCCAAATCTTCTGTGACCAAG	0.488																																						dbGAP											0													143.0	142.0	142.0					20																	30370073		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF098158	CCDS13190.1	20q11.2	2013-07-23	2013-07-23	2003-10-08	ENSG00000088325	ENSG00000088325			1249	protein-coding gene	gene with protein product		605917	"""chromosome 20 open reading frame 1"", ""TPX2, microtubule-associated, homolog (Xenopus laevis)"""	C20orf2, C20orf1		9207457, 10393424	Standard	NM_012112		Approved	p100, DIL-2	uc002wwp.1	Q9ULW0	OTTHUMG00000032190	ENST00000300403.6:c.1076C>T	20.37:g.30370073C>T	ENSP00000300403:p.Ser359Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H1R4|Q9NRA3|Q9UFN9|Q9UL00|Q9Y2M1	Missense_Mutation	SNP	pfam_TPX2_importin,pfam_Aurora-A-bd,pfam_Xklp2_targeting_prot	p.S395F	ENST00000300403.6	37	c.1184	CCDS13190.1	20	.	.	.	.	.	.	.	.	.	.	C	11.33	1.606343	0.28623	.	.	ENSG00000088325	ENST00000300403;ENST00000340513	T	0.32988	1.43	5.8	3.72	0.42706	.	0.874983	0.09992	N	0.729580	T	0.14917	0.0360	N	0.08118	0	0.09310	N	1	B;B	0.33379	0.41;0.167	B;B	0.28784	0.094;0.024	T	0.03231	-1.1058	10	0.59425	D	0.04	-0.0276	7.0479	0.25056	0.1709:0.7412:0.0:0.0879	.	395;359	Q96RR5;Q9ULW0	.;TPX2_HUMAN	F	359;395	ENSP00000341145:S395F	ENSP00000300403:S359F	S	+	2	0	TPX2	29833734	0.033000	0.19621	0.962000	0.40283	0.502000	0.33828	0.784000	0.26816	2.758000	0.94735	0.563000	0.77884	TCT	TPX2	-	NULL	ENSG00000088325		0.488	TPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPX2	HGNC	protein_coding	OTTHUMT00000078569.2	68	0.00	0	C			30370073	30370073	+1	no_errors	ENST00000340513	ensembl	human	known	69_37n	missense	68	17.07	14	SNP	0.064	T
TRAF3IP3	80342	genome.wustl.edu	37	1	209948732	209948732	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:209948732G>C	ENST00000367024.1	+	10	1329	c.813G>C	c.(811-813)gaG>gaC	p.E271D	TRAF3IP3_ENST00000477431.1_Missense_Mutation_p.E7D|TRAF3IP3_ENST00000367023.1_Missense_Mutation_p.E7D|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.E251D|TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.E251D|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.E271D|TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.E251D			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	271						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)		TACTACTGGAGATGGAAGACC	0.438																																						dbGAP											0													64.0	66.0	65.0					1																	209948732		2203	4300	6503	-	-	-	SO:0001583	missense	0				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.813G>C	1.37:g.209948732G>C	ENSP00000355991:p.Glu271Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L464|A6NIU9|Q2YDB5|Q4VY06|Q7Z706	Missense_Mutation	SNP	NULL	p.E271D	ENST00000367024.1	37	c.813	CCDS1490.2	1	.	.	.	.	.	.	.	.	.	.	G	13.00	2.107304	0.37145	.	.	ENSG00000009790	ENST00000400959;ENST00000367025;ENST00000458110;ENST00000367026;ENST00000367024;ENST00000010338;ENST00000367023;ENST00000487271;ENST00000477431	T;T;T;T;T;T;T	0.81415	-1.48;-1.49;-1.49;-1.49;-1.49;0.81;0.82	5.3	1.86	0.25419	.	0.153660	0.42548	N	0.000695	T	0.72566	0.3476	L	0.53249	1.67	0.37449	D	0.914748	B;B;B;B	0.18310	0.027;0.01;0.027;0.021	B;B;B;B	0.22601	0.03;0.009;0.04;0.013	T	0.67620	-0.5624	10	0.44086	T	0.13	-6.5636	6.8743	0.24139	0.2152:0.1495:0.6354:0.0	.	271;251;271;251	Q9Y228;Q9Y228-2;Q9Y228-3;E2QRE5	T3JAM_HUMAN;.;.;.	D	251;271;254;251;271;251;7;7;7	ENSP00000383743:E251D;ENSP00000355992:E271D;ENSP00000355993:E251D;ENSP00000355991:E271D;ENSP00000010338:E251D;ENSP00000355990:E7D;ENSP00000417417:E7D	ENSP00000010338:E251D	E	+	3	2	TRAF3IP3	208015355	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	0.845000	0.27668	0.550000	0.28991	0.563000	0.77884	GAG	TRAF3IP3	-	NULL	ENSG00000009790		0.438	TRAF3IP3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRAF3IP3	HGNC	protein_coding	OTTHUMT00000088734.2	86	0.00	0	G			209948732	209948732	+1	no_errors	ENST00000367024	ensembl	human	known	69_37n	missense	81	31.93	38	SNP	1.000	C
TRAF3IP3	80342	genome.wustl.edu	37	1	209949003	209949003	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:209949003G>C	ENST00000367024.1	+	11	1491	c.975G>C	c.(973-975)ctG>ctC	p.L325L	TRAF3IP3_ENST00000477431.1_Silent_p.L61L|TRAF3IP3_ENST00000367023.1_Silent_p.L61L|TRAF3IP3_ENST00000367026.3_Silent_p.L305L|TRAF3IP3_ENST00000400959.3_Silent_p.L305L|TRAF3IP3_ENST00000367025.3_Silent_p.L325L|TRAF3IP3_ENST00000010338.4_Silent_p.L305L			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	325						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)		ATGAGGCTCTGAAGGAGGACT	0.617																																						dbGAP											0													56.0	56.0	56.0					1																	209949003		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				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.975G>C	1.37:g.209949003G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L464|A6NIU9|Q2YDB5|Q4VY06|Q7Z706	Silent	SNP	NULL	p.L325	ENST00000367024.1	37	c.975	CCDS1490.2	1																																																																																			TRAF3IP3	-	NULL	ENSG00000009790		0.617	TRAF3IP3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRAF3IP3	HGNC	protein_coding	OTTHUMT00000088734.2	27	0.00	0	G			209949003	209949003	+1	no_errors	ENST00000367024	ensembl	human	known	69_37n	silent	37	32.73	18	SNP	0.992	C
TRAF5	7188	genome.wustl.edu	37	1	211545615	211545615	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:211545615G>A	ENST00000261464.5	+	11	1299	c.1245G>A	c.(1243-1245)atG>atA	p.M415I	TRAF5_ENST00000336184.2_Missense_Mutation_p.M415I|TRAF5_ENST00000427925.2_Missense_Mutation_p.M309I|TRAF5_ENST00000367004.3_Missense_Mutation_p.M415I	NM_001033910.2	NP_001029082.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	415	Interaction with EIF2AK2/PKR.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				apoptotic process (GO:0006915)|positive regulation of cell proliferation (GO:0008284)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	CD40 receptor complex (GO:0035631)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)	signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		ATTACAAGATGAAGAAGAGAG	0.478																																						dbGAP											0													117.0	125.0	122.0					1																	211545615		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB000509	CCDS1497.1	1q32	2008-02-05			ENSG00000082512	ENSG00000082512		"""RING-type (C3HC4) zinc fingers"""	12035	protein-coding gene	gene with protein product		602356				9126477	Standard	NM_001033910		Approved	RNF84	uc001hii.3	O00463	OTTHUMG00000036997	ENST00000261464.5:c.1245G>A	1.37:g.211545615G>A	ENSP00000261464:p.Met415Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DIS9|B4E0A2|Q6FHY1	Missense_Mutation	SNP	pfam_MATH,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF	p.M415I	ENST00000261464.5	37	c.1245	CCDS1497.1	1	.	.	.	.	.	.	.	.	.	.	G	12.02	1.814012	0.32053	.	.	ENSG00000082512	ENST00000336184;ENST00000427925;ENST00000261464;ENST00000367004	T;T;T;T	0.35605	2.16;1.3;2.16;2.16	5.16	4.25	0.50352	TRAF-type (1);TRAF-like (1);MATH (2);	0.527796	0.22600	N	0.057965	T	0.27419	0.0673	L	0.33485	1.01	0.24628	N	0.993632	B;B;B	0.22480	0.07;0.012;0.01	B;B;B	0.17979	0.013;0.02;0.014	T	0.21075	-1.0256	10	0.59425	D	0.04	-10.3839	10.1673	0.42888	0.1531:0.0:0.8469:0.0	.	309;426;415	F5H1P7;B4E0A2;O00463	.;.;TRAF5_HUMAN	I	415;309;415;415	ENSP00000336825:M415I;ENSP00000389891:M309I;ENSP00000261464:M415I;ENSP00000355971:M415I	ENSP00000261464:M415I	M	+	3	0	TRAF5	209612238	1.000000	0.71417	0.953000	0.39169	0.982000	0.71751	2.881000	0.48538	1.297000	0.44761	0.650000	0.86243	ATG	TRAF5	-	superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH	ENSG00000082512		0.478	TRAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF5	HGNC	protein_coding	OTTHUMT00000089825.1	39	0.00	0	G	NM_004619		211545615	211545615	+1	no_errors	ENST00000261464	ensembl	human	known	69_37n	missense	48	18.64	11	SNP	0.974	A
TRAK1	22906	genome.wustl.edu	37	3	42233068	42233068	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:42233068G>C	ENST00000327628.5	+	7	1109	c.709G>C	c.(709-711)Gag>Cag	p.E237Q	TRAK1_ENST00000449246.1_Missense_Mutation_p.E163Q|TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000396175.1_Missense_Mutation_p.E179Q|TRAK1_ENST00000341421.3_Missense_Mutation_p.E179Q	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	237	HAP1 N-terminal.				endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						GCTGAAGACAGAGACCATCAC	0.557											OREG0015501	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(44;195 884 22595 31865 41850)	dbGAP											0													96.0	71.0	80.0					3																	42233068		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"""OGT(O Glc NAc transferase) interacting protein 106 KDa"", ""O-linked N-acetylglucosamine transferase interacting protein 106"", ""milton homolog 1 (Drosophila)"""	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.709G>C	3.37:g.42233068G>C	ENSP00000328998:p.Glu237Gln	Somatic	907	WXS	Illumina GAIIx	Phase_IV	E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Missense_Mutation	SNP	pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom	p.E179Q	ENST00000327628.5	37	c.535	CCDS43072.1	3	.	.	.	.	.	.	.	.	.	.	G	29.0	4.964606	0.92791	.	.	ENSG00000182606	ENST00000327628;ENST00000543338;ENST00000449246;ENST00000396175;ENST00000341421	T;T;T;T	0.26067	1.76;1.76;1.76;1.76	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.47893	0.1470	L	0.61036	1.89	0.80722	D	1	P;P;D;P;D;P	0.60160	0.946;0.879;0.987;0.933;0.981;0.953	P;P;P;P;P;P	0.61940	0.741;0.708;0.891;0.623;0.896;0.807	T	0.36578	-0.9742	10	0.52906	T	0.07	.	18.6105	0.91283	0.0:0.0:1.0:0.0	.	163;179;237;179;163;237	B7Z218;C9JC32;B7Z347;Q9UPV9-2;E9PDS2;Q9UPV9	.;.;.;.;.;TRAK1_HUMAN	Q	237;237;163;179;179	ENSP00000328998:E237Q;ENSP00000410717:E163Q;ENSP00000379478:E179Q;ENSP00000340702:E179Q	ENSP00000328998:E237Q	E	+	1	0	TRAK1	42208072	1.000000	0.71417	0.993000	0.49108	0.985000	0.73830	9.610000	0.98337	2.621000	0.88768	0.643000	0.83706	GAG	TRAK1	-	pfam_HAP1_N	ENSG00000182606		0.557	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	TRAK1	HGNC	protein_coding	OTTHUMT00000343413.1	51	0.00	0	G	NM_014965		42233068	42233068	+1	no_errors	ENST00000396175	ensembl	human	known	69_37n	missense	66	11.84	9	SNP	1.000	C
TRAK1	22906	genome.wustl.edu	37	3	42233127	42233127	+	Splice_Site	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:42233127G>C	ENST00000327628.5	+	7	1168	c.768G>C	c.(766-768)ctG>ctC	p.L256L	TRAK1_ENST00000449246.1_Splice_Site_p.L182L|TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000396175.1_Splice_Site_p.L198L|TRAK1_ENST00000341421.3_Splice_Site_p.L198L	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	256	HAP1 N-terminal.				endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						TGAAGGAGCTGAGTATGTCCC	0.527											OREG0015501	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(44;195 884 22595 31865 41850)	dbGAP											0													113.0	80.0	91.0					3																	42233127		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"""OGT(O Glc NAc transferase) interacting protein 106 KDa"", ""O-linked N-acetylglucosamine transferase interacting protein 106"", ""milton homolog 1 (Drosophila)"""	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.769+1G>C	3.37:g.42233127G>C		Somatic	907	WXS	Illumina GAIIx	Phase_IV	E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Silent	SNP	pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom	p.L198	ENST00000327628.5	37	c.594	CCDS43072.1	3																																																																																			TRAK1	-	pfam_HAP1_N	ENSG00000182606		0.527	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	TRAK1	HGNC	protein_coding	OTTHUMT00000343413.1	52	0.00	0	G	NM_014965	Silent	42233127	42233127	+1	no_errors	ENST00000396175	ensembl	human	known	69_37n	silent	69	12.50	10	SNP	0.998	C
TRAK1	22906	genome.wustl.edu	37	3	42251618	42251618	+	Intron	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:42251618G>A	ENST00000327628.5	+	14	2363				TRAK1_ENST00000487159.1_Intron|TRAK1_ENST00000396175.1_Intron|TRAK1_ENST00000341421.3_Missense_Mutation_p.E644K	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1						endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						ggGGTCTGGTGAGGGCACCAC	0.612																																					GBM(44;195 884 22595 31865 41850)	dbGAP											0													116.0	126.0	122.0					3																	42251618		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0				CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"""OGT(O Glc NAc transferase) interacting protein 106 KDa"", ""O-linked N-acetylglucosamine transferase interacting protein 106"", ""milton homolog 1 (Drosophila)"""	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.1963+141G>A	3.37:g.42251618G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Missense_Mutation	SNP	pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom	p.E644K	ENST00000327628.5	37	c.1930	CCDS43072.1	3	.	.	.	.	.	.	.	.	.	.	G	27.3	4.820501	0.90873	.	.	ENSG00000182606	ENST00000341421	T	0.08807	3.05	5.29	5.29	0.74685	.	.	.	.	.	T	0.10252	0.0251	N	0.19112	0.55	0.27749	N	0.944214	.	.	.	.	.	.	T	0.28332	-1.0047	6	.	.	.	.	18.2904	0.90127	0.0:0.0:1.0:0.0	.	.	.	.	K	644	ENSP00000340702:E644K	.	E	+	1	0	TRAK1	42226622	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.398000	0.66308	2.628000	0.89032	0.655000	0.94253	GAG	TRAK1	-	NULL	ENSG00000182606		0.612	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	TRAK1	HGNC	protein_coding	OTTHUMT00000343413.1	46	0.00	0	G	NM_014965		42251618	42251618	+1	no_errors	ENST00000341421	ensembl	human	known	69_37n	missense	67	20.93	18	SNP	1.000	A
TRAK2	66008	genome.wustl.edu	37	2	202254093	202254093	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:202254093C>G	ENST00000332624.3	-	12	1755	c.1327G>C	c.(1327-1329)Gag>Cag	p.E443Q		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	443	Interaction with HGS. {ECO:0000250}.				protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GABA receptor binding (GO:0050811)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						AGACCAGACTCAAAAGGTTTT	0.507																																						dbGAP											0													136.0	132.0	133.0					2																	202254093		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB038951	CCDS2347.1	2q33.1	2012-03-05	2005-12-13	2005-12-13	ENSG00000115993	ENSG00000115993			13206	protein-coding gene	gene with protein product	"""gamma-aminobutyric acid(A) receptor-interacting factor"", ""milton homolog 2 (Drosophila)"", ""O-linked N-acetylglucosamine transferase interacting protein 98"""	607334	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3"""	ALS2CR3		11161814, 16380713, 20230862	Standard	NM_015049		Approved	CALS-C, KIAA0549, GRIF-1, OIP98, MILT2	uc002uyb.4	O60296	OTTHUMG00000132822	ENST00000332624.3:c.1327G>C	2.37:g.202254093C>G	ENSP00000328875:p.Glu443Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6	Missense_Mutation	SNP	pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom	p.E443Q	ENST00000332624.3	37	c.1327	CCDS2347.1	2	.	.	.	.	.	.	.	.	.	.	C	11.41	1.631798	0.29068	.	.	ENSG00000115993	ENST00000332624;ENST00000542292	T	0.06528	3.29	5.9	4.01	0.46588	Trafficking kinesin-binding protein domain (1);	0.227351	0.35615	N	0.003082	T	0.03651	0.0104	N	0.04880	-0.145	0.50813	D	0.999898	B	0.13145	0.007	B	0.14578	0.011	T	0.44667	-0.9313	10	0.13853	T	0.58	.	15.5279	0.75925	0.0:0.607:0.3929:0.0	.	443	O60296	TRAK2_HUMAN	Q	443;349	ENSP00000328875:E443Q	ENSP00000328875:E443Q	E	-	1	0	TRAK2	201962338	0.967000	0.33354	0.984000	0.44739	0.843000	0.47879	2.037000	0.41174	1.443000	0.47586	0.650000	0.86243	GAG	TRAK2	-	pfam_Traffickng_kinesin-bd_prot_dom	ENSG00000115993		0.507	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAK2	HGNC	protein_coding	OTTHUMT00000256284.3	95	0.00	0	C	NM_015049		202254093	202254093	-1	no_errors	ENST00000332624	ensembl	human	known	69_37n	missense	103	14.17	17	SNP	0.773	G
TRAK2	66008	genome.wustl.edu	37	2	202260101	202260101	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:202260101C>T	ENST00000332624.3	-	8	1264	c.836G>A	c.(835-837)cGa>cAa	p.R279Q	TRAK2_ENST00000430254.1_Missense_Mutation_p.R279Q	NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	279	HAP1 N-terminal.				protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GABA receptor binding (GO:0050811)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						TTCTTGGTATCGAATCAGCTC	0.338																																						dbGAP											0													184.0	182.0	183.0					2																	202260101		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB038951	CCDS2347.1	2q33.1	2012-03-05	2005-12-13	2005-12-13	ENSG00000115993	ENSG00000115993			13206	protein-coding gene	gene with protein product	"""gamma-aminobutyric acid(A) receptor-interacting factor"", ""milton homolog 2 (Drosophila)"", ""O-linked N-acetylglucosamine transferase interacting protein 98"""	607334	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3"""	ALS2CR3		11161814, 16380713, 20230862	Standard	NM_015049		Approved	CALS-C, KIAA0549, GRIF-1, OIP98, MILT2	uc002uyb.4	O60296	OTTHUMG00000132822	ENST00000332624.3:c.836G>A	2.37:g.202260101C>T	ENSP00000328875:p.Arg279Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6	Missense_Mutation	SNP	pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom	p.R279Q	ENST00000332624.3	37	c.836	CCDS2347.1	2	.	.	.	.	.	.	.	.	.	.	C	26.7	4.758638	0.89843	.	.	ENSG00000115993	ENST00000332624;ENST00000542292;ENST00000430254	T;T	0.25749	1.78;1.78	5.74	3.93	0.45458	.	0.000000	0.64402	D	0.000001	T	0.37758	0.1015	L	0.41906	1.305	0.80722	D	1	B;D	0.89917	0.045;1.0	B;D	0.65773	0.015;0.938	T	0.15464	-1.0436	10	0.62326	D	0.03	.	11.3614	0.49646	0.0:0.761:0.0:0.239	.	279;279	E7EV21;O60296	.;TRAK2_HUMAN	Q	279;185;279	ENSP00000328875:R279Q;ENSP00000409333:R279Q	ENSP00000328875:R279Q	R	-	2	0	TRAK2	201968346	1.000000	0.71417	0.996000	0.52242	0.888000	0.51559	2.357000	0.44125	1.436000	0.47453	-0.150000	0.13652	CGA	TRAK2	-	pfam_HAP1_N	ENSG00000115993		0.338	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAK2	HGNC	protein_coding	OTTHUMT00000256284.3	119	0.83	1	C	NM_015049		202260101	202260101	-1	no_errors	ENST00000332624	ensembl	human	known	69_37n	missense	92	17.12	19	SNP	0.999	T
TRAM1	23471	genome.wustl.edu	37	8	71495481	71495481	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:71495481C>T	ENST00000262213.2	-	10	1138	c.969G>A	c.(967-969)tgG>tgA	p.W323*	TRAM1_ENST00000521425.1_Nonsense_Mutation_p.W237*|TRAM1_ENST00000536748.1_Nonsense_Mutation_p.W292*|TRAM1_ENST00000521049.1_5'Flank	NM_014294.5	NP_055109.1	Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	323	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			AATGTTCCCTCCACCTTCGAA	0.383																																					Ovarian(85;984 1334 5116 12432 40638)	dbGAP											0													125.0	114.0	117.0					8																	71495481		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			X63679	CCDS6207.1	8q13.1	2004-01-22			ENSG00000067167	ENSG00000067167			20568	protein-coding gene	gene with protein product		605190				1315422	Standard	NM_014294		Approved	TRAM, TRAMP	uc003xyo.2	Q15629	OTTHUMG00000164428	ENST00000262213.2:c.969G>A	8.37:g.71495481C>T	ENSP00000262213:p.Trp323*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E0K2	Nonsense_Mutation	SNP	pfam_TRAM1,pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom	p.W323*	ENST00000262213.2	37	c.969	CCDS6207.1	8	.	.	.	.	.	.	.	.	.	.	C	37	6.187317	0.97357	.	.	ENSG00000067167	ENST00000521425;ENST00000262213;ENST00000536748	.	.	.	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	.	18.6681	0.91499	0.0:1.0:0.0:0.0	.	.	.	.	X	237;323;292	.	ENSP00000262213:W323X	W	-	3	0	TRAM1	71658035	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.648000	0.83479	2.654000	0.90174	0.563000	0.77884	TGG	TRAM1	-	smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom	ENSG00000067167		0.383	TRAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAM1	HGNC	protein_coding	OTTHUMT00000378738.1	171	0.00	0	C	NM_014294		71495481	71495481	-1	no_errors	ENST00000262213	ensembl	human	known	69_37n	nonsense	76	56.98	102	SNP	1.000	T
TRAM1	23471	genome.wustl.edu	37	8	71510247	71510247	+	Splice_Site	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:71510247C>T	ENST00000262213.2	-	4	479		c.e4-1		TRAM1_ENST00000521425.1_Splice_Site|TRAM1_ENST00000536748.1_Splice_Site|TRAM1_ENST00000521049.1_Splice_Site	NM_014294.5	NP_055109.1	Q15629	TRAM1_HUMAN	translocation associated membrane protein 1						cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			TGTTAATTTTCTAAAAATAAA	0.308																																					Ovarian(85;984 1334 5116 12432 40638)	dbGAP											0													37.0	38.0	38.0					8																	71510247		2202	4300	6502	-	-	-	SO:0001630	splice_region_variant	0			X63679	CCDS6207.1	8q13.1	2004-01-22			ENSG00000067167	ENSG00000067167			20568	protein-coding gene	gene with protein product		605190				1315422	Standard	NM_014294		Approved	TRAM, TRAMP	uc003xyo.2	Q15629	OTTHUMG00000164428	ENST00000262213.2:c.310-1G>A	8.37:g.71510247C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E0K2	Splice_Site	SNP	-	e4-1	ENST00000262213.2	37	c.310-1	CCDS6207.1	8	.	.	.	.	.	.	.	.	.	.	C	20.6	4.019061	0.75275	.	.	ENSG00000067167	ENST00000521425;ENST00000262213;ENST00000536748;ENST00000518678	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4623	0.84064	0.1316:0.8684:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TRAM1	71672801	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.809000	0.86057	2.778000	0.95560	0.655000	0.94253	.	TRAM1	-	-	ENSG00000067167		0.308	TRAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAM1	HGNC	protein_coding	OTTHUMT00000378738.1	95	0.00	0	C	NM_014294	Intron	71510247	71510247	-1	no_errors	ENST00000262213	ensembl	human	known	69_37n	splice_site	94	19.66	23	SNP	1.000	T
TRAM2	9697	genome.wustl.edu	37	6	52369498	52369498	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:52369498G>A	ENST00000182527.3	-	10	929	c.930C>T	c.(928-930)ttC>ttT	p.F310F	EFHC1_ENST00000433625.2_Intron	NM_012288.3	NP_036420.1	Q15035	TRAM2_HUMAN	translocation associated membrane protein 2	310	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				collagen biosynthetic process (GO:0032964)|protein transport (GO:0015031)	integral component of membrane (GO:0016021)				endometrium(3)|large_intestine(1)|lung(7)|prostate(1)|skin(1)	13	Lung NSC(77;0.109)					GGGAGTGGATGAAGCGCCACA	0.632																																						dbGAP											0													33.0	31.0	31.0					6																	52369498		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D31762	CCDS34477.1	6p21.1-p12	2008-02-05			ENSG00000065308	ENSG00000065308			16855	protein-coding gene	gene with protein product		608485				7584044, 10594243	Standard	NM_012288		Approved	KIAA0057	uc003paq.3	Q15035	OTTHUMG00000014850	ENST00000182527.3:c.930C>T	6.37:g.52369498G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6T6	Silent	SNP	pfam_TRAM1,pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom	p.F310	ENST00000182527.3	37	c.930	CCDS34477.1	6																																																																																			TRAM2	-	pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom	ENSG00000065308		0.632	TRAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAM2	HGNC	protein_coding	OTTHUMT00000040910.1	32	0.00	0	G	NM_012288		52369498	52369498	-1	no_errors	ENST00000182527	ensembl	human	known	69_37n	silent	32	23.81	10	SNP	1.000	A
TRANK1	9881	genome.wustl.edu	37	3	36899234	36899234	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:36899234G>C	ENST00000429976.2	-	12	2094	c.1847C>G	c.(1846-1848)tCt>tGt	p.S616C	TRANK1_ENST00000428977.2_Missense_Mutation_p.S66C|TRANK1_ENST00000301807.6_Missense_Mutation_p.S66C	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	616							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GTGGGCAGCAGAGTCCTGCCG	0.567																																						dbGAP											0													107.0	109.0	108.0					3																	36899234		1989	4167	6156	-	-	-	SO:0001583	missense	0			AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.1847C>G	3.37:g.36899234G>C	ENSP00000416168:p.Ser616Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N8K0	Missense_Mutation	SNP	pfam_UvrD-like_ATP-bd,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom	p.S616C	ENST00000429976.2	37	c.1847	CCDS46789.2	3	.	.	.	.	.	.	.	.	.	.	G	5.827	0.336864	0.11013	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.23754	1.89;1.89;1.89	5.6	5.6	0.85130	.	1.276660	0.05336	N	0.529343	T	0.18130	0.0435	N	0.24115	0.695	0.09310	N	1	P	0.38642	0.641	B	0.31191	0.125	T	0.06285	-1.0835	10	0.44086	T	0.13	.	8.7321	0.34505	0.1089:0.1443:0.7468:0.0	.	616	O15050	TRNK1_HUMAN	C	66;616;66	ENSP00000416826:S66C;ENSP00000416168:S616C;ENSP00000301807:S66C	ENSP00000301807:S66C	S	-	2	0	TRANK1	36874238	0.001000	0.12720	0.170000	0.22879	0.076000	0.17211	0.763000	0.26517	2.818000	0.97014	0.655000	0.94253	TCT	TRANK1	-	NULL	ENSG00000168016		0.567	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TRANK1	HGNC	protein_coding		60	0.00	0	G	NM_014831		36899234	36899234	-1	no_errors	ENST00000429976	ensembl	human	known	69_37n	missense	66	27.17	25	SNP	0.003	C
TRAP1	10131	genome.wustl.edu	37	16	3721737	3721737	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:3721737C>G	ENST00000246957.5	-	11	1309	c.1221G>C	c.(1219-1221)gaG>gaC	p.E407D	TRAP1_ENST00000538171.1_Missense_Mutation_p.E354D|TRAP1_ENST00000575671.1_Missense_Mutation_p.E198D|TRAP1_ENST00000573872.1_5'UTR	NM_016292.2	NP_057376.2	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1	407					chaperone-mediated protein folding (GO:0061077)|negative regulation of cellular respiration (GO:1901856)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to stress (GO:0006950)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|tumor necrosis factor receptor binding (GO:0005164)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				TGAGTGCGCTCTCCTGCAGCA	0.687																																						dbGAP											0													50.0	44.0	46.0					16																	3721737		2197	4300	6497	-	-	-	SO:0001583	missense	0			AF154108	CCDS10508.1, CCDS61824.1	16p13.3	2011-09-02			ENSG00000126602	ENSG00000126602		"""Heat shock proteins / HSPC"""	16264	protein-coding gene	gene with protein product		606219				10652318, 7876093	Standard	NM_016292		Approved	HSP75, HSP90L	uc002cvt.4	Q12931	OTTHUMG00000129427	ENST00000246957.5:c.1221G>C	16.37:g.3721737C>G	ENSP00000246957:p.Glu407Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DR68|D3DUC8|F5H897|O43642|O75235|Q9UHL5	Missense_Mutation	SNP	pfam_Hsp90,pfam_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pirsf_Hsp90,prints_Hsp90_N	p.E407D	ENST00000246957.5	37	c.1221	CCDS10508.1	16	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.505925	0.00992	.	.	ENSG00000126602	ENST00000246957;ENST00000538171	T;T	0.09445	2.98;2.98	5.08	0.973	0.19710	Ribosomal protein S5 domain 2-type fold (1);	0.046212	0.85682	D	0.000000	T	0.03390	0.0098	N	0.05078	-0.115	0.50632	D	0.999882	B;B	0.09022	0.001;0.002	B;B	0.11329	0.004;0.006	T	0.40079	-0.9582	10	0.06365	T	0.9	-29.6711	4.6034	0.12364	0.1469:0.4956:0.0:0.3574	.	354;407	F5H897;Q12931	.;TRAP1_HUMAN	D	407;354	ENSP00000246957:E407D;ENSP00000442070:E354D	ENSP00000246957:E407D	E	-	3	2	TRAP1	3661738	1.000000	0.71417	0.989000	0.46669	0.237000	0.25408	0.735000	0.26115	0.411000	0.25702	-0.181000	0.13052	GAG	TRAP1	-	pfam_Hsp90,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Hsp90	ENSG00000126602		0.687	TRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAP1	HGNC	protein_coding	OTTHUMT00000251586.2	41	0.00	0	C	NM_016292		3721737	3721737	-1	no_errors	ENST00000246957	ensembl	human	known	69_37n	missense	17	46.88	15	SNP	0.997	G
TRAPPC11	60684	genome.wustl.edu	37	4	184605206	184605206	+	Splice_Site	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:184605206C>T	ENST00000334690.6	+	12	1488	c.1286C>T	c.(1285-1287)tCt>tTt	p.S429F	TRAPPC11_ENST00000357207.4_Splice_Site_p.S429F|TRAPPC11_ENST00000512476.1_Splice_Site_p.S35F	NM_021942.5	NP_068761.4	Q7Z392	TPC11_HUMAN	trafficking protein particle complex 11	429					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)											GTTGTTCACTCTGTAAGTTTT	0.318																																						dbGAP											0													110.0	117.0	115.0					4																	184605206		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS34112.1, CCDS47166.1	4q35.1	2011-12-12	2011-12-12	2011-12-12	ENSG00000168538	ENSG00000168538		"""Trafficking protein particle complex"""	25751	protein-coding gene	gene with protein product	"""gryzun homolog (Drosophila)"", ""foie gras homolog (zebrafish)"""	614138	"""chromosome 4 open reading frame 41"""	C4orf41		19942856, 21525244	Standard	NM_021942		Approved	FLJ12716, gry, foigr	uc003ivx.3	Q7Z392	OTTHUMG00000160673	ENST00000334690.6:c.1287+1C>T	4.37:g.184605206C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A4QPB8|B2RCD6|Q5U5I7|Q6FI73|Q86T25|Q9H0L1|Q9H5K9|Q9H8Q1|Q9H9I7	Missense_Mutation	SNP	pfam_Foie-gras_1,pfam_DUF1683_C	p.S429F	ENST00000334690.6	37	c.1286	CCDS34112.1	4	.	.	.	.	.	.	.	.	.	.	C	18.75	3.689614	0.68271	.	.	ENSG00000168538	ENST00000334690;ENST00000357207;ENST00000360109;ENST00000512476	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.84656	0.5520	M	0.85777	2.775	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.994	D	0.86096	0.1553	9	0.66056	D	0.02	.	19.7529	0.96275	0.0:1.0:0.0:0.0	.	35;429;429	D6RHE5;Q7Z392;Q7Z392-3	.;TPC11_HUMAN;.	F	429;429;429;35	.	ENSP00000335371:S429F	S	+	2	0	C4orf41	184842200	1.000000	0.71417	0.995000	0.50966	0.734000	0.41952	5.791000	0.69045	2.668000	0.90789	0.460000	0.39030	TCT	TRAPPC11	-	pfam_Foie-gras_1	ENSG00000168538		0.318	TRAPPC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAPPC11	HGNC	protein_coding	OTTHUMT00000361654.2	164	0.00	0	C	NM_021942	Missense_Mutation	184605206	184605206	+1	no_errors	ENST00000334690	ensembl	human	known	69_37n	missense	131	22.02	37	SNP	1.000	T
TRAPPC3	27095	genome.wustl.edu	37	1	36603505	36603505	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:36603505G>C	ENST00000373166.3	-	4	405	c.315C>G	c.(313-315)ctC>ctG	p.L105L	TRAPPC3_ENST00000373162.1_Silent_p.L59L|TRAPPC3_ENST00000462715.1_5'UTR|TRAPPC3_ENST00000373163.1_Silent_p.L59L|TRAPPC3_ENST00000373159.1_3'UTR	NM_001270894.1|NM_014408.4	NP_001257823.1|NP_055223.1	O43617	TPPC3_HUMAN	trafficking protein particle complex 3	105					ER to Golgi vesicle-mediated transport (GO:0006888)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|TRAPP complex (GO:0030008)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Myeloproliferative disorder(586;0.0393)				TTTCCAAAATGAGGGAGAATT	0.473																																						dbGAP											0													93.0	96.0	95.0					1																	36603505		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF041432	CCDS404.1, CCDS59194.1, CCDS72757.1, CCDS72758.1	1p34.2	2011-10-10			ENSG00000054116	ENSG00000054116		"""Trafficking protein particle complex"""	19942	protein-coding gene	gene with protein product		610955				8619474	Standard	NM_014408		Approved	BET3	uc031pls.1	O43617	OTTHUMG00000007664	ENST00000373166.3:c.315C>G	1.37:g.36603505G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDN0|B2RDN2|D3DPS2	Silent	SNP	pfam_TRAPP_component,superfamily_NO_sig/Golgi_transp_ligand-bd,pirsf_TRAPP_I_complex_Bet3	p.L105	ENST00000373166.3	37	c.315	CCDS404.1	1																																																																																			TRAPPC3	-	pfam_TRAPP_component,superfamily_NO_sig/Golgi_transp_ligand-bd,pirsf_TRAPP_I_complex_Bet3	ENSG00000054116		0.473	TRAPPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAPPC3	HGNC	protein_coding	OTTHUMT00000020384.1	54	0.00	0	G	NM_014408		36603505	36603505	-1	no_errors	ENST00000373166	ensembl	human	known	69_37n	silent	34	27.66	13	SNP	1.000	C
TRAPPC8	22878	genome.wustl.edu	37	18	29450349	29450349	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr18:29450349C>T	ENST00000283351.4	-	16	2709	c.2374G>A	c.(2374-2376)Gaa>Aaa	p.E792K	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.E738K	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	792					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGTTTAACTTCTTCATTATCC	0.323																																						dbGAP											0													53.0	52.0	52.0					18																	29450349		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"""Trafficking protein particle complex"""	29169	protein-coding gene	gene with protein product	"""general sporulation gene 1 homolog (S. cerevisiae)"""	614136	"""KIAA1012"""	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.2374G>A	18.37:g.29450349C>T	ENSP00000283351:p.Glu792Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A0JP15|B3KME5|Q9H0L2	Missense_Mutation	SNP	NULL	p.E792K	ENST00000283351.4	37	c.2374	CCDS11901.1	18	.	.	.	.	.	.	.	.	.	.	C	14.40	2.522640	0.44866	.	.	ENSG00000153339	ENST00000283351	T	0.09073	3.02	5.98	5.1	0.69264	.	0.388682	0.28521	N	0.015052	T	0.07413	0.0187	L	0.40543	1.245	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21759	-1.0236	10	0.13108	T	0.6	.	10.6972	0.45905	0.0:0.7958:0.1326:0.0716	.	792	Q9Y2L5	TPPC8_HUMAN	K	792	ENSP00000283351:E792K	ENSP00000283351:E792K	E	-	1	0	TRAPPC8	27704347	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.308000	0.51896	1.507000	0.48752	0.650000	0.86243	GAA	TRAPPC8	-	NULL	ENSG00000153339		0.323	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	TRAPPC8	HGNC	protein_coding	OTTHUMT00000255355.1	78	0.00	0	C	NM_014939		29450349	29450349	-1	no_errors	ENST00000283351	ensembl	human	known	69_37n	missense	27	32.50	13	SNP	1.000	T
TRAPPC9	83696	genome.wustl.edu	37	8	140898132	140898132	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:140898132G>A	ENST00000438773.2	-	21	3179	c.3046C>T	c.(3046-3048)Ctg>Ttg	p.L1016L	TRAPPC9_ENST00000389327.3_Silent_p.L1007L|TRAPPC9_ENST00000389328.4_Silent_p.L1114L|TRAPPC9_ENST00000522504.1_5'UTR	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	1016					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						CCCCACTGCAGAGGCGCCAGC	0.622																																						dbGAP											0													22.0	23.0	23.0					8																	140898132		2185	4249	6434	-	-	-	SO:0001819	synonymous_variant	0			BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"""Trafficking protein particle complex"""	30832	protein-coding gene	gene with protein product	"""TRAPP 120 kDa subunit"", ""tularik gene 1"""	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.3046C>T	8.37:g.140898132G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Missense_Mutation	SNP	pfam_TRAPP_II_complex_Trs120	p.S859F	ENST00000438773.2	37	c.2576	CCDS55278.1	8	.	.	.	.	.	.	.	.	.	.	G	8.651	0.898152	0.17686	.	.	ENSG00000167632	ENST00000520857	.	.	.	5.56	4.5	0.54988	.	.	.	.	.	T	0.64068	0.2565	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61481	-0.7054	4	.	.	.	.	12.5667	0.56314	0.0941:0.0:0.9059:0.0	.	.	.	.	F	859	.	.	S	-	2	0	TRAPPC9	140967314	1.000000	0.71417	0.976000	0.42696	0.840000	0.47671	1.739000	0.38217	2.620000	0.88729	0.655000	0.94253	TCT	TRAPPC9	-	NULL	ENSG00000167632		0.622	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	TRAPPC9	HGNC	protein_coding	OTTHUMT00000377749.1	20	0.00	0	G	NM_031466		140898132	140898132	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000520857	ensembl	human	novel	69_37n	missense	20	37.50	12	SNP	0.998	A
TRBV7-7	28591	genome.wustl.edu	37	7	142119872	142119872	+	RNA	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:142119872G>T	ENST00000390377.1	-	0	294									T cell receptor beta variable 7-7																		TCTGTGCGCTGAATCGTCAGA	0.542																																						dbGAP											0													84.0	82.0	83.0					7																	142119872		2044	4195	6239	-	-	-			0			L36092		7q34	2012-02-07			ENSG00000253291	ENSG00000253291		"""T cell receptors / TRB locus"""	12241	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV77, TCRBV6S6A2T, TCRBV7S7			OTTHUMG00000158872		7.37:g.142119872G>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_V-set_subgr,pfscan_Ig-like	p.Q99K	ENST00000390377.1	37	c.295		7																																																																																			TRBV7-7	-	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000253291		0.542	TRBV7-7-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TRBV7-7	HGNC	TR_V_gene	OTTHUMT00000352480.1	76	0.00	0	G	NG_001333		142119872	142119872	-1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000390377	ensembl	human	known	69_37n	missense	82	22.64	24	SNP	0.000	T
TRBV7-4	28594	genome.wustl.edu	37	7	142176556	142176556	+	RNA	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:142176556G>C	ENST00000390369.2	-	0	119									T cell receptor beta variable 7-4 (gene/pseudogene)																		AATCACACCTGAGAGCTACAT	0.502																																						dbGAP											0													75.0	71.0	72.0					7																	142176556		1881	4119	6000	-	-	-			0			L36092		7q34	2012-02-07	2008-09-12		ENSG00000253409	ENSG00000253409		"""T cell receptors / TRB locus"""	12238	other	T cell receptor gene			"""T cell receptor beta variable 7-4"""			8650574	Standard	NG_001333		Approved	TRBV74, TCRBV6S8A2T, TCRBV7S4			OTTHUMG00000158508		7.37:g.142176556G>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Ig_V-set,pfscan_Ig-like	p.L40	ENST00000390369.2	37	c.120		7																																																																																			TRBV7-4	-	pfam_Ig_V-set,pfscan_Ig-like	ENSG00000253409		0.502	TRBV7-4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TRBV7-4	HGNC	TR_V_gene	OTTHUMT00000351214.2	79	0.00	0	G	NG_001333		142176556	142176556	-1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000390369	ensembl	human	known	69_37n	silent	55	21.43	15	SNP	0.003	C
TREML3P	340206	genome.wustl.edu	37	6	41177396	41177396	+	RNA	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:41177396G>A	ENST00000564680.1	-	0	476									triggering receptor expressed on myeloid cells-like 3, pseudogene																		CCTTGGCCAGGAGGAGTCCAC	0.597																																						dbGAP											0																																										-	-	-			0			AF534825		6p21.1	2012-04-20	2012-04-20	2012-04-20	ENSG00000184106	ENSG00000184106			30806	pseudogene	pseudogene	"""TREM like transcript 3"""	609716	"""triggering receptor expressed on myeloid cells-like 3"""	TREML3		12645956	Standard	NR_027256		Approved	TLT3	uc003oqb.3		OTTHUMG00000177313		6.37:g.41177396G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000564680.1	37	NULL		6																																																																																			TREML3P	-	-	ENSG00000184106		0.597	TREML3P-002	KNOWN	basic	processed_transcript	TREML3P	HGNC	pseudogene	OTTHUMT00000436224.1	54	0.00	0	G			41177396	41177396	-1	no_errors	ENST00000564680	ensembl	human	known	69_37n	rna	36	20.00	9	SNP	0.000	A
TREX2	11219	genome.wustl.edu	37	X	152713279	152713279	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:152713279G>A	ENST00000334497.2	-	10	1163	c.22C>T	c.(22-24)Ctc>Ttc	p.L8F	TREX2_ENST00000393862.2_5'UTR|TREX2_ENST00000402951.1_Missense_Mutation_p.L8F|TREX2_ENST00000370231.2_5'Flank|HAUS7_ENST00000370211.4_3'UTR|TREX2_ENST00000338525.2_5'UTR|HAUS7_ENST00000421080.2_3'UTR|HAUS7_ENST00000484394.1_5'UTR|TREX2_ENST00000414588.1_5'UTR|TREX2_ENST00000370232.1_Missense_Mutation_p.L8F|TREX2_ENST00000330912.2_5'UTR			Q9BQ50	TREX2_HUMAN	three prime repair exonuclease 2	8					DNA catabolic process, exonucleolytic (GO:0000738)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)	nucleus (GO:0005634)	3'-5'-exodeoxyribonuclease activity (GO:0008296)|exodeoxyribonuclease III activity (GO:0008853)|magnesium ion binding (GO:0000287)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)			endometrium(4)|large_intestine(2)|lung(3)|ovary(2)	11	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GATCTTGGGAGAGGGCTTCCT	0.552								Editing and processing nucleases																														dbGAP											0													242.0	220.0	226.0					X																	152713279		1568	3582	5150	-	-	-	SO:0001583	missense	0			AF151107	CCDS35437.1	Xq28	2012-05-08			ENSG00000183479	ENSG00000183479			12270	protein-coding gene	gene with protein product		300370				10391904	Standard	NM_080701		Approved		uc011myp.2	Q9BQ50	OTTHUMG00000159319	ENST00000334497.2:c.22C>T	X.37:g.152713279G>A	ENSP00000334993:p.Leu8Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q45F08|Q9UN77	Missense_Mutation	SNP	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	p.L8F	ENST00000334497.2	37	c.22		X	.	.	.	.	.	.	.	.	.	.	G	10.25	1.298781	0.23650	.	.	ENSG00000183479	ENST00000334497;ENST00000370232;ENST00000402951	T;T;T	0.52983	0.64;0.64;0.64	3.07	-1.34	0.09143	.	.	.	.	.	T	0.34716	0.0907	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.36696	-0.9737	6	0.54805	T	0.06	.	0.5688	0.00692	0.3521:0.2474:0.2393:0.1612	.	.	.	.	F	8	ENSP00000334993:L8F;ENSP00000359252:L8F;ENSP00000386078:L8F	ENSP00000334993:L8F	L	-	1	0	TREX2	152366473	0.000000	0.05858	0.000000	0.03702	0.057000	0.15508	-2.309000	0.01130	-0.438000	0.07232	0.419000	0.28159	CTC	TREX2	-	NULL	ENSG00000183479		0.552	TREX2-001	KNOWN	alternative_5_UTR|basic	protein_coding	TREX2	HGNC	protein_coding	OTTHUMT00000060966.1	66	0.00	0	G	NM_080701		152713279	152713279	-1	no_errors	ENST00000334497	ensembl	human	known	69_37n	missense	46	25.81	16	SNP	0.000	A
TRHDE	29953	genome.wustl.edu	37	12	72680657	72680657	+	Missense_Mutation	SNP	C	C	G	rs201997503		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:72680657C>G	ENST00000261180.4	+	2	1072	c.976C>G	c.(976-978)Ctc>Gtc	p.L326V		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	326					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ACAGACCCCTCTCATGTCCAC	0.403																																						dbGAP											0													130.0	124.0	126.0					12																	72680657		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.976C>G	12.37:g.72680657C>G	ENSP00000261180:p.Leu326Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PL19|Q6UWJ4	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.L326V	ENST00000261180.4	37	c.976	CCDS9004.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.533|7.533	0.659148|0.659148	0.14645|0.14645	.|.	.|.	ENSG00000072657|ENSG00000072657	ENST00000261180|ENST00000547300	T|.	0.04194|.	3.68|.	6.17|6.17	6.17|6.17	0.99709|0.99709	Peptidase M1, membrane alanine aminopeptidase, N-terminal (2);|.	0.059460|.	0.64402|.	D|.	0.000001|.	T|T	0.37598|0.37598	0.1009|0.1009	N|N	0.05230|0.05230	-0.09|-0.09	0.44352|0.44352	D|D	0.997243|0.997243	B|.	0.22909|.	0.077|.	B|.	0.25759|.	0.063|.	T|T	0.29640|0.29640	-1.0005|-1.0005	10|5	0.36615|.	T|.	0.2|.	.|.	13.9957|13.9957	0.64397|0.64397	0.0:0.9315:0.0:0.0685|0.0:0.9315:0.0:0.0685	.|.	326|.	Q9UKU6|.	TRHDE_HUMAN|.	V|C	326|91	ENSP00000261180:L326V|.	ENSP00000261180:L326V|.	L|S	+|+	1|2	0|0	TRHDE|TRHDE	70966924|70966924	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.091000|6.091000	0.71406|0.71406	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CTC|TCT	TRHDE	-	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	ENSG00000072657		0.403	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRHDE	HGNC	protein_coding	OTTHUMT00000405380.1	129	0.00	0	C	NM_013381		72680657	72680657	+1	no_errors	ENST00000261180	ensembl	human	known	69_37n	missense	123	16.33	24	SNP	1.000	G
TRIB1	10221	genome.wustl.edu	37	8	126448609	126448609	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:126448609G>A	ENST00000519576.1	+	2	585	c.322G>A	c.(322-324)Gag>Aag	p.E108K	TRIB1_ENST00000311922.3_Missense_Mutation_p.E339K|TRIB1_ENST00000520847.1_Missense_Mutation_p.E173K					tribbles pseudokinase 1									p.E339*(2)		NS(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8	all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			CCCCTGGTTTGAGTCCGTCTT	0.547																																						dbGAP											2	Substitution - Nonsense(2)	lung(2)											85.0	87.0	86.0					8																	126448609		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF205437	CCDS6357.1, CCDS64971.1	8q24.13	2013-10-03	2013-10-03			ENSG00000173334			16891	protein-coding gene	gene with protein product		609461	"""tribbles homolog 1 (Drosophila)"""			9342215, 16715410	Standard	NM_001282985		Approved	C8FW, GIG2, TRB1	uc003yrx.3	Q96RU8		ENST00000519576.1:c.322G>A	8.37:g.126448609G>A	ENSP00000428879:p.Glu108Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		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.E339K	ENST00000519576.1	37	c.1015		8	.	.	.	.	.	.	.	.	.	.	G	9.348	1.064730	0.20067	.	.	ENSG00000173334	ENST00000311922;ENST00000520847;ENST00000519576	T;T;T	0.72725	-0.68;-0.68;1.9	5.62	2.72	0.32119	Protein kinase-like domain (1);	0.000000	0.33572	U	0.004769	T	0.45696	0.1355	N	0.14661	0.345	0.34801	D	0.736701	B	0.13145	0.007	B	0.08055	0.003	T	0.45948	-0.9226	10	0.02654	T	1	-9.3933	9.7985	0.40751	0.0:0.2542:0.4831:0.2627	.	339	Q96RU8	TRIB1_HUMAN	K	339;173;108	ENSP00000312150:E339K;ENSP00000429063:E173K;ENSP00000428879:E108K	ENSP00000312150:E339K	E	+	1	0	TRIB1	126517791	0.984000	0.35163	0.099000	0.21106	0.426000	0.31534	2.437000	0.44828	0.261000	0.21753	0.561000	0.74099	GAG	TRIB1	-	superfamily_Kinase-like_dom	ENSG00000173334		0.547	TRIB1-003	PUTATIVE	basic|exp_conf	protein_coding	TRIB1	HGNC	protein_coding	OTTHUMT00000381433.1	50	0.00	0	G	NM_025195		126448609	126448609	+1	no_errors	ENST00000311922	ensembl	human	known	69_37n	missense	92	14.02	15	SNP	0.723	A
TRIM23	373	genome.wustl.edu	37	5	64892258	64892258	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:64892258G>C	ENST00000231524.9	-	9	1781	c.1410C>G	c.(1408-1410)ctC>ctG	p.L470L	TRIM23_ENST00000381018.3_Silent_p.L470L|TRIM23_ENST00000274327.7_Silent_p.L470L	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	470	ARF-like.				GTP catabolic process (GO:0006184)|positive regulation of catalytic activity (GO:0043085)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		CTTGAGTATTGAGGTAATAAT	0.299																																						dbGAP											0													105.0	104.0	104.0					5																	64892258		2203	4296	6499	-	-	-	SO:0001819	synonymous_variant	0			L04510	CCDS3986.1, CCDS3987.1, CCDS43322.1	5q12.3	2013-01-09	2011-01-25	2004-06-04	ENSG00000113595	ENSG00000113595		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	660	protein-coding gene	gene with protein product		601747	"""ADP-ribosylation factor domain protein 1, 64kDa"", ""tripartite motif-containing 23"""	ARFD1		8473324	Standard	NM_001656		Approved	ARD1, RNF46	uc003jty.3	P36406	OTTHUMG00000097802	ENST00000231524.9:c.1410C>G	5.37:g.64892258G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BZY4|Q9BZY5	Silent	SNP	pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,pfscan_Znf_B-box,pfscan_Znf_RING,pfscan_Znf_C2H2,tigrfam_Small_GTP-bd_dom	p.L470	ENST00000231524.9	37	c.1410	CCDS3987.1	5																																																																																			TRIM23	-	pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom	ENSG00000113595		0.299	TRIM23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM23	HGNC	protein_coding	OTTHUMT00000215058.2	150	0.00	0	G	NM_001656		64892258	64892258	-1	no_errors	ENST00000231524	ensembl	human	known	69_37n	silent	44	51.65	47	SNP	0.734	C
TRIM29	23650	genome.wustl.edu	37	11	119988996	119988996	+	Missense_Mutation	SNP	G	G	A	rs185266068	byFrequency	TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:119988996G>A	ENST00000341846.5	-	7	1983	c.1562C>T	c.(1561-1563)tCc>tTc	p.S521F	TRIM29_ENST00000529044.1_Missense_Mutation_p.S260F|TRIM29_ENST00000541857.1_Missense_Mutation_p.S254F|TRIM29_ENST00000528870.1_Missense_Mutation_p.S54F|TRIM29_ENST00000525887.1_5'UTR|TRIM29_ENST00000524816.3_Missense_Mutation_p.S87F	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	521					negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		CTGAATGCTGGAGGAGTACTC	0.612													G|||	4	0.000798722	0.0	0.0	5008	,	,		17771	0.004		0.0	False		,,,				2504	0.0					dbGAP											0													115.0	95.0	102.0					11																	119988996		2199	4295	6494	-	-	-	SO:0001583	missense	0			AF230388	CCDS8428.1	11q23.3	2011-04-20	2011-01-25		ENSG00000137699	ENSG00000137699		"""Tripartite motif containing / Tripartite motif containing"""	17274	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM29"", ""ataxia-telangiectasia group D-associated protein"""	610658	"""tripartite motif-containing 29"""			11331580	Standard	NM_012101		Approved	ATDC, FLJ36085	uc001pwz.3	Q14134	OTTHUMG00000140377	ENST00000341846.5:c.1562C>T	11.37:g.119988996G>A	ENSP00000343129:p.Ser521Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96AA9|Q9BZY7	Missense_Mutation	SNP	pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box	p.S521F	ENST00000341846.5	37	c.1562	CCDS8428.1	11	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	13.90	2.376143	0.42105	.	.	ENSG00000137699	ENST00000341846;ENST00000541857;ENST00000533302;ENST00000524816;ENST00000528870;ENST00000529044;ENST00000526881	T	0.53423	0.62	4.05	3.11	0.35812	.	0.094778	0.45867	D	0.000322	T	0.52500	0.1738	L	0.34521	1.04	0.41683	D	0.989301	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.997;0.997;0.95	T	0.45644	-0.9247	9	.	.	.	.	8.9275	0.35650	0.0:0.0:0.7769:0.2231	.	254;260;521	B7Z8U9;E9PRL4;Q14134	.;.;TRI29_HUMAN	F	521;254;69;87;54;260;56	ENSP00000343129:S521F	.	S	-	2	0	TRIM29	119494206	1.000000	0.71417	0.686000	0.30086	0.606000	0.37113	4.302000	0.59092	0.663000	0.31027	0.407000	0.27541	TCC	TRIM29	-	NULL	ENSG00000137699		0.612	TRIM29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM29	HGNC	protein_coding	OTTHUMT00000277108.2	87	0.00	0	G	NM_012101		119988996	119988996	-1	no_errors	ENST00000341846	ensembl	human	known	69_37n	missense	58	32.56	28	SNP	0.650	A
TRIM4	89122	genome.wustl.edu	37	7	99516656	99516656	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:99516656G>C	ENST00000355947.2	-	1	498	c.369C>G	c.(367-369)atC>atG	p.I123M	TRIM4_ENST00000354241.5_Missense_Mutation_p.I123M|TRIM4_ENST00000349062.2_Missense_Mutation_p.I123M	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN	tripartite motif containing 4	123					protein trimerization (GO:0070206)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				AGGCCTCGTCGATGGGTGCCA	0.612																																						dbGAP											0													13.0	13.0	13.0					7																	99516656		2104	4060	6164	-	-	-	SO:0001583	missense	0			AF220023	CCDS5678.1, CCDS5679.1	7q22-q31.1	2013-01-09	2011-01-25		ENSG00000146833	ENSG00000146833		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16275	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM4"", ""tripartite motif protein 4"""		"""tripartite motif-containing 4"""			11331580	Standard	NM_033017		Approved	RNF87	uc003use.3	Q9C037	OTTHUMG00000156648	ENST00000355947.2:c.369C>G	7.37:g.99516656G>C	ENSP00000348216:p.Ile123Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D298|Q75MK1|Q96F06|Q9C036	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.I123M	ENST00000355947.2	37	c.369	CCDS5679.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.249|7.249	0.602908|0.602908	0.13939|0.13939	.|.	.|.	ENSG00000146833|ENSG00000146833	ENST00000355947;ENST00000349062;ENST00000354241|ENST00000447480	T;T;T|.	0.51817|.	0.69;0.69;0.69|.	2.14|2.14	1.19|1.19	0.21007|0.21007	Zinc finger, B-box (3);|.	.|.	.|.	.|.	.|.	T|T	0.27900|0.27900	0.0687|0.0687	L|L	0.41906|0.41906	1.305|1.305	0.09310|0.09310	N|N	1|1	P;P;B|.	0.44344|.	0.591;0.833;0.02|.	B;P;B|.	0.44860|.	0.3;0.462;0.013|.	T|T	0.23013|0.23013	-1.0200|-1.0200	9|5	0.20519|.	T|.	0.43|.	.|.	3.2624|3.2624	0.06853|0.06853	0.1673:0.2861:0.5465:0.0|0.1673:0.2861:0.5465:0.0	.|.	123;123;123|.	Q9C037-3;Q9C037-2;Q9C037|.	.;.;TRIM4_HUMAN|.	M|G	123|25	ENSP00000348216:I123M;ENSP00000275736:I123M;ENSP00000346186:I123M|.	ENSP00000275736:I123M|.	I|R	-|-	3|1	3|2	TRIM4|TRIM4	99354592|99354592	0.002000|0.002000	0.14202|0.14202	0.648000|0.648000	0.29521|0.29521	0.524000|0.524000	0.34500|0.34500	-0.604000|-0.604000	0.05667|0.05667	0.431000|0.431000	0.26258|0.26258	0.455000|0.455000	0.32223|0.32223	ATC|CGA	TRIM4	-	pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box	ENSG00000146833		0.612	TRIM4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIM4	HGNC	protein_coding	OTTHUMT00000345050.1	11	0.00	0	G	NM_033017		99516656	99516656	-1	no_errors	ENST00000355947	ensembl	human	known	69_37n	missense	1	83.33	5	SNP	0.315	C
TRIM41	90933	genome.wustl.edu	37	5	180661694	180661694	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:180661694C>T	ENST00000315073.5	+	6	2522	c.1812C>T	c.(1810-1812)ttC>ttT	p.F604F	TRIM41_ENST00000510072.1_3'UTR|TRIM41_ENST00000351937.5_Intron	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41	604	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGCACACCTTCTCGGCTGCCT	0.602																																						dbGAP											0													98.0	107.0	104.0					5																	180661694		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF258579	CCDS4465.1, CCDS4466.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146063	ENSG00000146063		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19013	protein-coding gene	gene with protein product	"""RING-finger protein that interacts with C kinase"""	610530	"""tripartite motif-containing 41"""			16022281	Standard	NM_033549		Approved	MGC1127, RINCK	uc003mne.2	Q8WV44	OTTHUMG00000130965	ENST00000315073.5:c.1812C>T	5.37:g.180661694C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KNJ6|D3DWR9|Q5BKT0|Q7L484|Q96Q10|Q9BSL8	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,pfam_DUF3631,superfamily_ConA-like_lec_gl,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.F604	ENST00000315073.5	37	c.1812	CCDS4466.1	5																																																																																			TRIM41	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	ENSG00000146063		0.602	TRIM41-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM41	HGNC	protein_coding	OTTHUMT00000253574.3	45	0.00	0	C	NM_201627		180661694	180661694	+1	no_errors	ENST00000315073	ensembl	human	known	69_37n	silent	39	27.78	15	SNP	0.942	T
TRIM43	129868	genome.wustl.edu	37	2	96260029	96260029	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:96260029G>C	ENST00000272395.2	+	2	394	c.258G>C	c.(256-258)ctG>ctC	p.L86L		NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	Q96BQ3	TRI43_HUMAN	tripartite motif containing 43	86						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						GGCAATTCCTGAGCTCTGAGA	0.453																																						dbGAP											0													5.0	6.0	6.0					2																	96260029		1748	3612	5360	-	-	-	SO:0001819	synonymous_variant	0			BK000505	CCDS2015.1	2q11	2014-02-17	2011-01-25		ENSG00000144015	ENSG00000144015		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19015	protein-coding gene	gene with protein product			"""tripartite motif-containing 43"""				Standard	NM_138800		Approved	TRIM43A	uc002suv.3	Q96BQ3	OTTHUMG00000130401	ENST00000272395.2:c.258G>C	2.37:g.96260029G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53TJ7	Silent	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING	p.L86	ENST00000272395.2	37	c.258	CCDS2015.1	2																																																																																			TRIM43	-	NULL	ENSG00000144015		0.453	TRIM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM43	HGNC	protein_coding	OTTHUMT00000252784.1	53	0.00	0	G	NM_138800		96260029	96260029	+1	no_errors	ENST00000272395	ensembl	human	known	69_37n	silent	80	12.09	11	SNP	0.001	C
TRIM46	80128	genome.wustl.edu	37	1	155152321	155152321	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:155152321C>T	ENST00000334634.4	+	8	1499	c.1499C>T	c.(1498-1500)tCt>tTt	p.S500F	TRIM46_ENST00000368385.4_Missense_Mutation_p.S500F|TRIM46_ENST00000368383.3_Missense_Mutation_p.S500F|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000545012.1_Missense_Mutation_p.S374F|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000368382.1_Missense_Mutation_p.S477F|TRIM46_ENST00000392451.2_3'UTR|TRIM46_ENST00000543729.1_3'UTR	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	500	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GACACGGGCTCTGTGTATGTG	0.682																																						dbGAP											0													31.0	35.0	34.0					1																	155152321		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19019	protein-coding gene	gene with protein product		600986	"""tripartite motif-containing 46"""				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680	ENST00000334634.4:c.1499C>T	1.37:g.155152321C>T	ENSP00000334657:p.Ser500Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Fibronectin_type3,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box	p.S500F	ENST00000334634.4	37	c.1499	CCDS1097.1	1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.261935	0.39995	.	.	ENSG00000163462	ENST00000430513;ENST00000368385;ENST00000545012;ENST00000368383;ENST00000368382;ENST00000334634	T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49	3.55	3.55	0.40652	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.144205	0.47852	D	0.000215	T	0.38374	0.1038	M	0.65498	2.005	0.38608	D	0.950831	D;D;D;D	0.69078	0.997;0.99;0.995;0.997	D;P;D;P	0.66847	0.947;0.675;0.947;0.899	T	0.34179	-0.9839	10	0.87932	D	0	.	9.1538	0.36980	0.0:0.7759:0.2241:0.0	.	500;477;500;500	Q5VT61;B1AVQ4;Q7Z4K8;Q7Z4K8-2	.;.;TRI46_HUMAN;.	F	458;500;374;500;477;500	ENSP00000357369:S500F;ENSP00000440254:S374F;ENSP00000357367:S500F;ENSP00000357366:S477F;ENSP00000334657:S500F	ENSP00000334657:S500F	S	+	2	0	TRIM46	153418945	1.000000	0.71417	0.991000	0.47740	0.204000	0.24138	5.874000	0.69652	2.011000	0.59026	0.462000	0.41574	TCT	TRIM46	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000163462		0.682	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM46	HGNC	protein_coding	OTTHUMT00000086728.1	29	0.00	0	C	NM_025058		155152321	155152321	+1	no_errors	ENST00000334634	ensembl	human	known	69_37n	missense	21	27.59	8	SNP	0.992	T
TRIM48	79097	genome.wustl.edu	37	11	55032430	55032430	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:55032430C>G	ENST00000417545.2	+	2	185	c.99C>G	c.(97-99)atC>atG	p.I33M		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	17						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CCTGCCCCATCTGCATGAACT	0.488																																						dbGAP											0													128.0	132.0	131.0					11																	55032430		2194	4264	6458	-	-	-	SO:0001583	missense	0			AF521869	CCDS7947.2	11q12	2013-01-09	2011-01-25		ENSG00000150244	ENSG00000150244		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19021	protein-coding gene	gene with protein product			"""tripartite motif-containing 48"""				Standard	NM_024114		Approved	RNF101	uc010rid.2	Q8IWZ4	OTTHUMG00000157011	ENST00000417545.2:c.99C>G	11.37:g.55032430C>G	ENSP00000402414:p.Ile33Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BUW4	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.I33M	ENST00000417545.2	37	c.99	CCDS7947.2	11	.	.	.	.	.	.	.	.	.	.	.	9.666	1.145431	0.21288	.	.	ENSG00000150244	ENST00000417545	D	0.89270	-2.49	0.596	0.596	0.17496	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	.	.	.	.	D	0.89959	0.6866	M	0.87682	2.9	0.20926	N	0.999821	B	0.31227	0.314	B	0.41666	0.363	D	0.83773	0.0221	9	0.62326	D	0.03	.	3.0166	0.06061	0.0:0.6545:0.0:0.3455	.	17	Q8IWZ4	TRI48_HUMAN	M	33	ENSP00000402414:I33M	ENSP00000402414:I33M	I	+	3	3	TRIM48	54789006	1.000000	0.71417	0.016000	0.15963	0.032000	0.12392	1.478000	0.35442	0.629000	0.30376	0.413000	0.27773	ATC	TRIM48	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	ENSG00000150244		0.488	TRIM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM48	HGNC	protein_coding	OTTHUMT00000347088.1	113	0.00	0	C			55032430	55032430	+1	no_errors	ENST00000417545	ensembl	human	known	69_37n	missense	117	24.84	39	SNP	1.000	G
TRIM54	57159	genome.wustl.edu	37	2	27527902	27527902	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:27527902G>T	ENST00000380075.2	+	4	929	c.589G>T	c.(589-591)Gag>Tag	p.E197*	TRIM54_ENST00000296098.4_Nonsense_Mutation_p.E239*	NM_187841.2	NP_912730.2	Q9BYV2	TRI54_HUMAN	tripartite motif containing 54	197	Mediates microtubule-binding and homooligomerization. {ECO:0000250}.				cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|negative regulation of microtubule depolymerization (GO:0007026)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACAGATGGAGGAGGTGTGCCA	0.607																																						dbGAP											0													108.0	78.0	88.0					2																	27527902		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AJ291714	CCDS1745.2, CCDS1746.2	2p23.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000138100	ENSG00000138100		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16008	protein-coding gene	gene with protein product		606474	"""ring finger protein 30"", ""tripartite motif-containing 54"""	RNF30		11243782	Standard	NM_032546		Approved	MURF, MURF-3	uc002rjn.3	Q9BYV2	OTTHUMG00000097078	ENST00000380075.2:c.589G>T	2.37:g.27527902G>T	ENSP00000369415:p.Glu197*	Somatic		WXS	Illumina GAIIx	Phase_IV	A5D8T7|Q53SY4|Q9BYV3	Nonsense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_Chorismate_mutase_type_II,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.E239*	ENST00000380075.2	37	c.715	CCDS1746.2	2	.	.	.	.	.	.	.	.	.	.	G	39	7.728827	0.98456	.	.	ENSG00000138100	ENST00000380075;ENST00000380073;ENST00000296098	.	.	.	5.59	5.59	0.84812	.	0.184876	0.46758	D	0.000277	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-22.9695	17.0883	0.86616	0.0:0.0:1.0:0.0	.	.	.	.	X	197;18;239	.	ENSP00000296098:E239X	E	+	1	0	TRIM54	27381406	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.706000	0.98722	2.642000	0.89623	0.561000	0.74099	GAG	TRIM54	-	superfamily_Chorismate_mutase_type_II	ENSG00000138100		0.607	TRIM54-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM54	HGNC	protein_coding	OTTHUMT00000214199.2	59	0.00	0	G	NM_187841		27527902	27527902	+1	no_errors	ENST00000296098	ensembl	human	known	69_37n	nonsense	59	23.38	18	SNP	1.000	T
TRIM55	84675	genome.wustl.edu	37	8	67039518	67039518	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:67039518G>A	ENST00000315962.4	+	1	388	c.15G>A	c.(13-15)ctG>ctA	p.L5L	TRIM55_ENST00000276573.7_Silent_p.L5L|TRIM55_ENST00000350034.4_Silent_p.L5L|TRIM55_ENST00000353317.5_Silent_p.L5L	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	5					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			GCGCATCTCTGAATTACAAAT	0.488																																						dbGAP											0													113.0	113.0	113.0					8																	67039518		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ291712	CCDS6184.1, CCDS6185.1, CCDS6186.1, CCDS6187.1	8q13.1	2013-01-09	2011-01-25	2004-11-17	ENSG00000147573	ENSG00000147573		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	14215	protein-coding gene	gene with protein product		606469	"""ring finger protein 29"", ""tripartite motif-containing 55"""	RNF29		11243782	Standard	NM_033058		Approved	MURF-2	uc003xvv.3	Q9BYV6	OTTHUMG00000164473	ENST00000315962.4:c.15G>A	8.37:g.67039518G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KRC0|B3KRJ3|Q53XX3|Q8IUD9|Q8IUE4|Q96DV2|Q96DV3|Q9BYV5	Silent	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.L5	ENST00000315962.4	37	c.15	CCDS6184.1	8																																																																																			TRIM55	-	NULL	ENSG00000147573		0.488	TRIM55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM55	HGNC	protein_coding	OTTHUMT00000378921.1	79	0.00	0	G	NM_184085		67039518	67039518	+1	no_errors	ENST00000315962	ensembl	human	known	69_37n	silent	88	17.76	19	SNP	1.000	A
TRIM6	117854	genome.wustl.edu	37	11	5632299	5632299	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:5632299G>C	ENST00000278302.5	+	8	1334	c.1194G>C	c.(1192-1194)caG>caC	p.Q398H	HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000515022.1_Missense_Mutation_p.Q223H|TRIM6_ENST00000445329.1_Missense_Mutation_p.Q223H|TRIM6_ENST00000506134.1_Missense_Mutation_p.Q223H|TRIM6_ENST00000380107.1_Missense_Mutation_p.Q372H|TRIM6_ENST00000507320.1_Missense_Mutation_p.Q223H|AC015691.13_ENST00000394793.2_RNA|TRIM6_ENST00000481603.1_3'UTR|TRIM6_ENST00000380097.3_Missense_Mutation_p.Q426H|TRIM6-TRIM34_ENST00000354852.5_Intron	NM_001198645.1|NM_058166.4	NP_001185574.1|NP_477514.1	Q9C030	TRIM6_HUMAN	tripartite motif containing 6	398	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		ATCAGCCTCAGAGTGGATACT	0.502																																						dbGAP											0													130.0	121.0	124.0					11																	5632299		2201	4297	6498	-	-	-	SO:0001583	missense	0			AF220030	CCDS31389.1, CCDS31390.1, CCDS55738.1	11p15	2013-01-09	2011-01-25		ENSG00000121236	ENSG00000121236		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16277	protein-coding gene	gene with protein product		607564	"""tripartite motif-containing 6"""			11331580	Standard	NM_058166		Approved	RNF89		Q9C030	OTTHUMG00000150029	ENST00000278302.5:c.1194G>C	11.37:g.5632299G>C	ENSP00000278302:p.Gln398His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2A7|B4DDQ5|Q86WZ8|Q9HCR1	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,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.Q426H	ENST00000278302.5	37	c.1278	CCDS31390.1	11	.	.	.	.	.	.	.	.	.	.	G	12.40	1.927220	0.34002	.	.	ENSG00000121236	ENST00000278302;ENST00000507320;ENST00000380107;ENST00000380097;ENST00000445329;ENST00000396867;ENST00000515022;ENST00000506134	T;T;T;T;T;T;T	0.61392	0.11;0.11;0.11;0.11;0.11;0.11;0.11	4.2	-1.79	0.07932	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.72317	0.3445	M	0.76727	2.345	0.09310	N	1	D;D;D	0.71674	0.995;0.998;0.998	D;D;D	0.73380	0.95;0.966;0.98	T	0.66563	-0.5892	9	0.51188	T	0.08	.	13.8124	0.63270	0.1517:0.0:0.8483:0.0	.	372;426;398	E9PFM0;Q9C030-2;Q9C030	.;.;TRIM6_HUMAN	H	398;223;372;426;223;305;223;223	ENSP00000278302:Q398H;ENSP00000427704:Q223H;ENSP00000369450:Q372H;ENSP00000369440:Q426H;ENSP00000399215:Q223H;ENSP00000421802:Q223H;ENSP00000421079:Q223H	ENSP00000278302:Q398H	Q	+	3	2	TRIM6	5588875	0.000000	0.05858	0.060000	0.19600	0.651000	0.38670	-0.200000	0.09478	-0.322000	0.08615	0.467000	0.42956	CAG	TRIM6	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000121236		0.502	TRIM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM6	HGNC	protein_coding	OTTHUMT00000143376.2	105	0.00	0	G	NM_001003818		5632299	5632299	+1	no_errors	ENST00000380097	ensembl	human	known	69_37n	missense	111	10.48	13	SNP	0.002	C
TRIM66	9866	genome.wustl.edu	37	11	8660338	8660338	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:8660338G>A	ENST00000299550.6	-	10	1932	c.1738C>T	c.(1738-1740)Cag>Tag	p.Q580*	TRIM66_ENST00000402157.2_Nonsense_Mutation_p.Q578*	NM_014818.1	NP_055633.1	O15016	TRI66_HUMAN	tripartite motif containing 66	580						aggresome (GO:0016235)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|kidney(1)|lung(1)|skin(2)	9						TTTGAGCCCTGAGATGCTGGG	0.567																																						dbGAP											0													39.0	39.0	39.0					11																	8660338		692	1591	2283	-	-	-	SO:0001587	stop_gained	0			AB002296		11p15.4	2013-01-28	2011-01-25		ENSG00000166436	ENSG00000166436		"""Tripartite motif containing / Tripartite motif containing"", ""Zinc fingers, PHD-type"""	29005	protein-coding gene	gene with protein product		612000	"""chromosome 11 open reading frame 29"", ""tripartite motif-containing 66"""	C11orf29		9205841	Standard	NM_014818		Approved	KIAA0298, TIF1D	uc010rbo.2	O15016	OTTHUMG00000150481	ENST00000299550.6:c.1738C>T	11.37:g.8660338G>A	ENSP00000299550:p.Gln580*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BQQ4	Nonsense_Mutation	SNP	pfam_Bromodomain,pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_B-box,smart_Znf_PHD,smart_Bbox_C,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Bromodomain	p.Q580*	ENST00000299550.6	37	c.1738		11	.	.	.	.	.	.	.	.	.	.	G	38	7.091239	0.98055	.	.	ENSG00000166436	ENST00000299550;ENST00000402157	.	.	.	5.39	4.49	0.54785	.	0.103986	0.42964	D	0.000632	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-16.8893	13.9576	0.64160	0.0:0.8483:0.1517:0.0	.	.	.	.	X	580;578	.	ENSP00000299550:Q580X	Q	-	1	0	TRIM66	8616914	0.968000	0.33430	0.996000	0.52242	0.057000	0.15508	2.240000	0.43088	1.520000	0.48965	-0.128000	0.14901	CAG	TRIM66	-	NULL	ENSG00000166436		0.567	TRIM66-201	KNOWN	basic|appris_candidate	protein_coding	TRIM66	HGNC	protein_coding		54	0.00	0	G	XM_084529		8660338	8660338	-1	no_errors	ENST00000299550	ensembl	human	known	69_37n	nonsense	65	21.69	18	SNP	0.999	A
TRIM8	81603	genome.wustl.edu	37	10	104404572	104404572	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:104404572G>A	ENST00000302424.7	+	1	320	c.198G>A	c.(196-198)gaG>gaA	p.E66E	RP11-47A8.5_ENST00000607967.1_lincRNA	NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8	66					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|PML body (GO:0016605)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CGGGCCTGGAGAAGAACCTGA	0.667																																						dbGAP											0													28.0	35.0	33.0					10																	104404572		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0			AF281046	CCDS31274.1	10q24.3	2013-01-09	2011-01-25	2002-06-14	ENSG00000171206	ENSG00000171206		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	15579	protein-coding gene	gene with protein product	"""glioblastoma expressed ring finger protein"""	606125	"""ring finger protein 27"", ""tripartite motif-containing 8"""	RNF27		11118312, 12163497	Standard	NM_030912		Approved	GERP	uc001kvz.2	Q9BZR9	OTTHUMG00000018964	ENST00000302424.7:c.198G>A	10.37:g.104404572G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NI31|Q9C028	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.E66	ENST00000302424.7	37	c.198	CCDS31274.1	10																																																																																			TRIM8	-	NULL	ENSG00000171206		0.667	TRIM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM8	HGNC	protein_coding	OTTHUMT00000050084.3	14	0.00	0	G	NM_030912		104404572	104404572	+1	no_errors	ENST00000302424	ensembl	human	known	69_37n	silent	10	44.44	8	SNP	1.000	A
TRIOBP	11078	genome.wustl.edu	37	22	38121705	38121705	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:38121705G>C	ENST00000406386.3	+	7	3397	c.3142G>C	c.(3142-3144)Gag>Cag	p.E1048Q		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1048					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CCGCGCCCCTGAGAGTGAACC	0.672																																						dbGAP											0													57.0	67.0	64.0					22																	38121705		1899	4099	5998	-	-	-	SO:0001583	missense	0			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.3142G>C	22.37:g.38121705G>C	ENSP00000384312:p.Glu1048Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E1048Q	ENST00000406386.3	37	c.3142	CCDS43015.1	22	.	.	.	.	.	.	.	.	.	.	G	13.94	2.387763	0.42308	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.36340	1.26	4.85	4.85	0.62838	.	.	.	.	.	T	0.48370	0.1496	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.39800	-0.9596	9	0.46703	T	0.11	.	13.3941	0.60840	0.0:0.0:1.0:0.0	.	1048	Q9H2D6	TARA_HUMAN	Q	1048	ENSP00000384312:E1048Q	ENSP00000384312:E1048Q	E	+	1	0	TRIOBP	36451651	0.998000	0.40836	0.972000	0.41901	0.008000	0.06430	3.250000	0.51445	2.529000	0.85273	0.449000	0.29647	GAG	TRIOBP	-	NULL	ENSG00000100106		0.672	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIOBP	HGNC	protein_coding	OTTHUMT00000319439.2	37	0.00	0	G			38121705	38121705	+1	no_errors	ENST00000406386	ensembl	human	known	69_37n	missense	67	15.19	12	SNP	0.974	C
TRIOBP	11078	genome.wustl.edu	37	22	38131260	38131260	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:38131260C>T	ENST00000406386.3	+	9	5172	c.4917C>T	c.(4915-4917)gtC>gtT	p.V1639V		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1639					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CCACCCCAGTCAATGGACACA	0.647											OREG0026548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													42.0	53.0	49.0					22																	38131260		2126	4236	6362	-	-	-	SO:0001819	synonymous_variant	0			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.4917C>T	22.37:g.38131260C>T		Somatic	875	WXS	Illumina GAIIx	Phase_IV	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.V1639	ENST00000406386.3	37	c.4917	CCDS43015.1	22																																																																																			TRIOBP	-	NULL	ENSG00000100106		0.647	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIOBP	HGNC	protein_coding	OTTHUMT00000319439.2	28	0.00	0	C			38131260	38131260	+1	no_errors	ENST00000406386	ensembl	human	known	69_37n	silent	25	32.43	12	SNP	0.547	T
TRIP11	9321	genome.wustl.edu	37	14	92499586	92499586	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:92499586C>G	ENST00000267622.4	-	2	524	c.151G>C	c.(151-153)Gat>Cat	p.D51H	TRIP11_ENST00000555105.1_5'UTR	NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	51					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		GTCCTAGAATCAGGTAATTCT	0.279			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	dbGAP		Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	0													57.0	61.0	60.0					14																	92499586		2203	4290	6493	-	-	-	SO:0001583	missense	0			L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.151G>C	14.37:g.92499586C>G	ENSP00000267622:p.Asp51His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	superfamily_Ribosomal_L29,pfscan_GRIP	p.D51H	ENST00000267622.4	37	c.151	CCDS9899.1	14	.	.	.	.	.	.	.	.	.	.	C	12.15	1.851401	0.32699	.	.	ENSG00000100815	ENST00000267622	T	0.67345	-0.26	5.85	0.843	0.18935	.	0.380276	0.28499	N	0.015129	T	0.49236	0.1545	L	0.29908	0.895	0.25146	N	0.990465	B	0.18741	0.03	B	0.22152	0.038	T	0.42430	-0.9452	10	0.66056	D	0.02	.	5.8375	0.18615	0.0:0.2087:0.1295:0.6618	.	51	Q15643	TRIPB_HUMAN	H	51	ENSP00000267622:D51H	ENSP00000267622:D51H	D	-	1	0	TRIP11	91569339	1.000000	0.71417	0.029000	0.17559	0.826000	0.46750	2.477000	0.45180	-0.080000	0.12685	-0.302000	0.09304	GAT	TRIP11	-	NULL	ENSG00000100815		0.279	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIP11	HGNC	protein_coding	OTTHUMT00000411823.1	44	0.00	0	C			92499586	92499586	-1	no_errors	ENST00000267622	ensembl	human	known	69_37n	missense	34	43.33	26	SNP	0.962	G
TRIP12	9320	genome.wustl.edu	37	2	230652275	230652275	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:230652275G>A	ENST00000283943.5	-	32	4894	c.4716C>T	c.(4714-4716)atC>atT	p.I1572I	TRIP12_ENST00000389044.4_Silent_p.I1620I|TRIP12_ENST00000389045.3_Silent_p.I1302I	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1572					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CAGACTGGTTGATTTCTGGGT	0.358																																						dbGAP											0													147.0	143.0	144.0					2																	230652275		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.4716C>T	2.37:g.230652275G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Silent	SNP	pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom	p.I1572	ENST00000283943.5	37	c.4716	CCDS33391.1	2																																																																																			TRIP12	-	NULL	ENSG00000153827		0.358	TRIP12-001	KNOWN	basic|CCDS	protein_coding	TRIP12	HGNC	protein_coding	OTTHUMT00000331861.3	168	0.00	0	G	NM_004238		230652275	230652275	-1	no_errors	ENST00000283943	ensembl	human	known	69_37n	silent	104	41.90	75	SNP	1.000	A
TRIP12	9320	genome.wustl.edu	37	2	230679862	230679862	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:230679862G>A	ENST00000283943.5	-	10	1718	c.1540C>T	c.(1540-1542)Cga>Tga	p.R514*	TRIP12_ENST00000389044.4_Nonsense_Mutation_p.R562*|TRIP12_ENST00000389045.3_Nonsense_Mutation_p.R217*|TRIP12_ENST00000543084.1_Intron	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	514					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		GCAGAAGATCGAGGAAGTGCT	0.373																																						dbGAP											0													154.0	158.0	157.0					2																	230679862		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.1540C>T	2.37:g.230679862G>A	ENSP00000283943:p.Arg514*	Somatic		WXS	Illumina GAIIx	Phase_IV	D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Nonsense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom	p.R514*	ENST00000283943.5	37	c.1540	CCDS33391.1	2	.	.	.	.	.	.	.	.	.	.	G	40	8.514616	0.98843	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	.	.	.	5.66	4.69	0.59074	.	0.053611	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.568	0.56320	0.0:0.0:0.6494:0.3506	.	.	.	.	X	514;217;562	.	ENSP00000283943:R514X	R	-	1	2	TRIP12	230388106	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.602000	0.54066	1.320000	0.45209	0.558000	0.71614	CGA	TRIP12	-	superfamily_ARM-type_fold	ENSG00000153827		0.373	TRIP12-001	KNOWN	basic|CCDS	protein_coding	TRIP12	HGNC	protein_coding	OTTHUMT00000331861.3	69	0.00	0	G	NM_004238		230679862	230679862	-1	no_errors	ENST00000283943	ensembl	human	known	69_37n	nonsense	55	17.91	12	SNP	1.000	A
TRIP12	9320	genome.wustl.edu	37	2	230723707	230723707	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:230723707G>T	ENST00000283943.5	-	3	860	c.682C>A	c.(682-684)Cag>Aag	p.Q228K	TRIP12_ENST00000409677.1_Missense_Mutation_p.Q270K|TRIP12_ENST00000389044.4_Missense_Mutation_p.Q270K|TRIP12_ENST00000389045.3_Intron|TRIP12_ENST00000543084.1_Missense_Mutation_p.Q270K	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	228					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		GCCTTGTTCTGATCTTTTCCT	0.517																																						dbGAP											0													106.0	95.0	99.0					2																	230723707		2203	4300	6503	-	-	-	SO:0001583	missense	0			L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.682C>A	2.37:g.230723707G>T	ENSP00000283943:p.Gln228Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom	p.Q228K	ENST00000283943.5	37	c.682	CCDS33391.1	2	.	.	.	.	.	.	.	.	.	.	G	20.9	4.069134	0.76301	.	.	ENSG00000153827	ENST00000283943;ENST00000389044;ENST00000543084;ENST00000409677;ENST00000453485	T;T	0.41400	1.0;1.0	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.42517	0.1206	N	0.24115	0.695	0.80722	D	1	P;D;P	0.54207	0.713;0.965;0.713	P;P;P	0.54815	0.761;0.696;0.761	T	0.08534	-1.0717	10	0.06625	T	0.88	.	20.0182	0.97486	0.0:0.0:1.0:0.0	.	228;270;228	D4HL82;Q14CA3;Q14669	.;.;TRIPC_HUMAN	K	228;270;270;270;98	ENSP00000283943:Q228K;ENSP00000373696:Q270K	ENSP00000283943:Q228K	Q	-	1	0	TRIP12	230431951	1.000000	0.71417	1.000000	0.80357	0.668000	0.39293	9.434000	0.97515	2.738000	0.93877	0.655000	0.94253	CAG	TRIP12	-	NULL	ENSG00000153827		0.517	TRIP12-001	KNOWN	basic|CCDS	protein_coding	TRIP12	HGNC	protein_coding	OTTHUMT00000331861.3	152	0.00	0	G	NM_004238		230723707	230723707	-1	no_errors	ENST00000283943	ensembl	human	known	69_37n	missense	164	12.70	24	SNP	1.000	T
TRMT2A	27037	genome.wustl.edu	37	22	20103649	20103649	+	Missense_Mutation	SNP	C	C	A	rs371028335		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:20103649C>A	ENST00000252136.7	-	2	899	c.511G>T	c.(511-513)Gtg>Ttg	p.V171L	RANBP1_ENST00000402752.1_5'Flank|TRMT2A_ENST00000403707.3_Missense_Mutation_p.V171L|TRMT2A_ENST00000492988.1_5'Flank|TRMT2A_ENST00000439169.2_Missense_Mutation_p.V171L|TRMT2A_ENST00000404751.3_Missense_Mutation_p.V171L|RANBP1_ENST00000430524.1_5'UTR|RANBP1_ENST00000331821.3_5'Flank	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN	tRNA methyltransferase 2 homolog A (S. cerevisiae)	171					RNA processing (GO:0006396)		nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)			breast(2)|endometrium(2)|lung(5)	9						GGGGTCACCACGTCGGCCACT	0.642																																						dbGAP											0													81.0	76.0	78.0					22																	20103649		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC017184	CCDS13774.1, CCDS58793.1	22q11.21	2014-02-12	2012-06-12		ENSG00000099899	ENSG00000099899			24974	protein-coding gene	gene with protein product	"""HpaII tiny fragments locus 9C"""	611151				9417108, 18075473	Standard	NM_022727		Approved	HTF9C	uc002zrl.2	Q8IZ69	OTTHUMG00000150454	ENST00000252136.7:c.511G>T	22.37:g.20103649C>A	ENSP00000252136:p.Val171Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DX25|Q32P57|Q96ME6|Q9H732	Missense_Mutation	SNP	pfam_U5_MeTrfase,pfam_PCMT,pfam_Small_mtfrase_dom,pfam_RNA_methylase_dom,pfam_RNA_MeTrfase_RsmD,pfam_Methyltransf_11,pfam_tRNA_(Gua-N-7)_MeTrfase,pfam_UbiE/COQ5_MeTrFase,pfscan_RRM_dom	p.V171L	ENST00000252136.7	37	c.511	CCDS13774.1	22	.	.	.	.	.	.	.	.	.	.	C	16.96	3.267146	0.59540	.	.	ENSG00000099899	ENST00000252136;ENST00000403707;ENST00000404751;ENST00000439169	T;T;T	0.49720	0.78;0.78;0.77	5.34	5.34	0.76211	.	0.058950	0.64402	D	0.000002	T	0.62146	0.2404	M	0.72353	2.195	0.80722	D	1	D;P;P	0.63880	0.993;0.457;0.658	P;B;B	0.54026	0.74;0.199;0.288	T	0.62941	-0.6747	10	0.42905	T	0.14	-25.0347	18.6227	0.91327	0.0:1.0:0.0:0.0	.	171;171;171	B4E213;F2Z2W7;Q8IZ69	.;.;TRM2A_HUMAN	L	171	ENSP00000252136:V171L;ENSP00000385807:V171L;ENSP00000395738:V171L	ENSP00000252136:V171L	V	-	1	0	TRMT2A	18483649	1.000000	0.71417	0.518000	0.27811	0.060000	0.15804	7.144000	0.77357	2.523000	0.85059	0.491000	0.48974	GTG	TRMT2A	-	NULL	ENSG00000099899		0.642	TRMT2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRMT2A	HGNC	protein_coding	OTTHUMT00000318168.3	37	0.00	0	C	NM_022727		20103649	20103649	-1	no_errors	ENST00000252136	ensembl	human	known	69_37n	missense	57	22.97	17	SNP	0.996	A
TRMT61B	55006	genome.wustl.edu	37	2	29083989	29083989	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:29083989C>G	ENST00000306108.5	-	3	1011	c.988G>C	c.(988-990)Gac>Cac	p.D330H	TRMT61B_ENST00000484060.1_5'UTR	NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	330					mitochondrial tRNA methylation (GO:0070901)|protein homooligomerization (GO:0051260)	mitochondrion (GO:0005739)|tRNA (m1A) methyltransferase complex (GO:0031515)	tRNA (adenine-N1-)-methyltransferase activity (GO:0016429)			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						CTTACTGCGTCAAATGTTAAA	0.378																																						dbGAP											0													114.0	112.0	113.0					2																	29083989		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC010365	CCDS1768.1	2p23.2	2009-01-09			ENSG00000171103	ENSG00000171103			26070	protein-coding gene	gene with protein product						11230166	Standard	NM_017910		Approved	FLJ20628	uc002rmm.3	Q9BVS5	OTTHUMG00000128433	ENST00000306108.5:c.988G>C	2.37:g.29083989C>G	ENSP00000302801:p.Asp330His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H0Q9|Q9NWS7	Missense_Mutation	SNP	pfam_tRNA_MeTrfase_GCD14,pfam_PCMT	p.D330H	ENST00000306108.5	37	c.988	CCDS1768.1	2	.	.	.	.	.	.	.	.	.	.	C	14.59	2.579785	0.46006	.	.	ENSG00000171103	ENST00000306108	T	0.57436	0.4	4.58	3.7	0.42460	.	0.074590	0.52532	D	0.000063	T	0.67878	0.2940	M	0.65498	2.005	0.38513	D	0.948512	D;D	0.76494	0.999;0.993	D;P	0.70227	0.968;0.816	T	0.72354	-0.4319	10	0.59425	D	0.04	.	12.6014	0.56499	0.0:0.9183:0.0:0.0817	.	330;330	F8WDR2;Q9BVS5	.;TR61B_HUMAN	H	330	ENSP00000302801:D330H	ENSP00000302801:D330H	D	-	1	0	TRMT61B	28937493	1.000000	0.71417	0.993000	0.49108	0.461000	0.32589	5.022000	0.64078	0.940000	0.37473	0.479000	0.44913	GAC	TRMT61B	-	pfam_tRNA_MeTrfase_GCD14,pfam_PCMT	ENSG00000171103		0.378	TRMT61B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT61B	HGNC	protein_coding	OTTHUMT00000250224.1	121	0.00	0	C	NM_017910		29083989	29083989	-1	no_errors	ENST00000306108	ensembl	human	known	69_37n	missense	81	22.86	24	SNP	1.000	G
TRPA1	8989	genome.wustl.edu	37	8	72958768	72958768	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:72958768C>T	ENST00000262209.4	-	17	2248	c.2041G>A	c.(2041-2043)Gaa>Aaa	p.E681K	RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	681					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)	p.E681K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GTAAGCGGTTCATATATAACA	0.269																																						dbGAP											1	Substitution - Missense(1)	endometrium(1)											165.0	178.0	174.0					8																	72958768		2203	4299	6502	-	-	-	SO:0001583	missense	0			Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.2041G>A	8.37:g.72958768C>T	ENSP00000262209:p.Glu681Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NIN6	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.E681K	ENST00000262209.4	37	c.2041	CCDS34908.1	8	.	.	.	.	.	.	.	.	.	.	C	13.32	2.203258	0.38905	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.79033	-1.23;-1.23	4.65	4.65	0.58169	.	0.176829	0.48286	D	0.000186	T	0.79358	0.4432	L	0.59912	1.85	0.41819	D	0.990015	D	0.53745	0.962	P	0.49683	0.619	T	0.76629	-0.2889	10	0.17369	T	0.5	-15.8793	17.872	0.88813	0.0:1.0:0.0:0.0	.	681	O75762	TRPA1_HUMAN	K	533;681	ENSP00000428151:E533K;ENSP00000262209:E681K	ENSP00000262209:E681K	E	-	1	0	TRPA1	73121322	1.000000	0.71417	0.972000	0.41901	0.025000	0.11179	3.444000	0.52914	2.285000	0.76669	0.555000	0.69702	GAA	TRPA1	-	NULL	ENSG00000104321		0.269	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPA1	HGNC	protein_coding	OTTHUMT00000379079.2	231	0.00	0	C	NM_007332		72958768	72958768	-1	no_errors	ENST00000262209	ensembl	human	known	69_37n	missense	174	20.55	45	SNP	0.987	T
TRPC1	7220	genome.wustl.edu	37	3	142443451	142443451	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:142443451C>A	ENST00000476941.1	+	1	536	c.50C>A	c.(49-51)tCc>tAc	p.S17Y	TRPC1_ENST00000273482.6_Missense_Mutation_p.S17Y	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	17					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						Gcctcctcctcctccctgcct	0.667																																						dbGAP											0													63.0	58.0	60.0					3																	142443451		2203	4300	6503	-	-	-	SO:0001583	missense	0			X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.50C>A	3.37:g.142443451C>A	ENSP00000419313:p.Ser17Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CE4	Missense_Mutation	SNP	pfam_TRP_dom,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC1_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.S17Y	ENST00000476941.1	37	c.50	CCDS58856.1	3	.	.	.	.	.	.	.	.	.	.	C	19.74	3.883107	0.72410	.	.	ENSG00000144935	ENST00000476941;ENST00000273482	T;T	0.79845	-1.02;-1.31	3.9	2.98	0.34508	.	0.538606	0.19462	N	0.113662	T	0.57257	0.2041	N	0.08118	0	0.29404	N	0.861716	P;P	0.43352	0.704;0.804	B;B	0.32342	0.047;0.144	T	0.59085	-0.7520	10	0.62326	D	0.03	-1.2044	9.7141	0.40263	0.0:0.7862:0.2138:0.0	.	17;17	P48995;P48995-2	TRPC1_HUMAN;.	Y	17	ENSP00000419313:S17Y;ENSP00000273482:S17Y	ENSP00000273482:S17Y	S	+	2	0	TRPC1	143926141	.	.	1.000000	0.80357	0.994000	0.84299	.	.	0.877000	0.35895	0.536000	0.68110	TCC	TRPC1	-	NULL	ENSG00000144935		0.667	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPC1	HGNC	protein_coding	OTTHUMT00000354520.1	45	0.00	0	C	NM_003304		142443451	142443451	+1	no_errors	ENST00000476941	ensembl	human	known	69_37n	missense	25	21.88	7	SNP	1.000	A
TRPC1	7220	genome.wustl.edu	37	3	142522868	142522868	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:142522868C>A	ENST00000476941.1	+	11	2293	c.1807C>A	c.(1807-1809)Cat>Aat	p.H603N	RNU7-47P_ENST00000515978.1_RNA|TRPC1_ENST00000273482.6_Missense_Mutation_p.H569N	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	603					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						CTCCTTAGCGCATGTGGCAAT	0.388																																						dbGAP											0													127.0	114.0	118.0					3																	142522868		2203	4300	6503	-	-	-	SO:0001583	missense	0			X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.1807C>A	3.37:g.142522868C>A	ENSP00000419313:p.His603Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CE4	Missense_Mutation	SNP	pfam_TRP_dom,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC1_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.H603N	ENST00000476941.1	37	c.1807	CCDS58856.1	3	.	.	.	.	.	.	.	.	.	.	C	18.15	3.560705	0.65538	.	.	ENSG00000144935	ENST00000476941;ENST00000273482;ENST00000416210	D;D	0.98329	-4.87;-4.87	5.33	5.33	0.75918	Ion transport (1);	0.098404	0.64402	D	0.000001	D	0.95194	0.8442	N	0.19112	0.55	0.80722	D	1	B;P;B	0.36354	0.322;0.549;0.001	B;B;B	0.37015	0.175;0.239;0.004	D	0.94392	0.7615	10	0.13470	T	0.59	.	19.3994	0.94621	0.0:1.0:0.0:0.0	.	569;603;569	A7VJS2;P48995;P48995-2	.;TRPC1_HUMAN;.	N	603;569;122	ENSP00000419313:H603N;ENSP00000273482:H569N	ENSP00000273482:H569N	H	+	1	0	TRPC1	144005558	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	7.572000	0.82409	2.654000	0.90174	0.650000	0.86243	CAT	TRPC1	-	pfam_Ion_trans_dom,prints_TRPC1_channel,tigrfam_TRP_channel	ENSG00000144935		0.388	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPC1	HGNC	protein_coding	OTTHUMT00000354520.1	130	0.00	0	C	NM_003304		142522868	142522868	+1	no_errors	ENST00000476941	ensembl	human	known	69_37n	missense	121	40.39	82	SNP	1.000	A
TRPC5	7224	genome.wustl.edu	37	X	111022282	111022282	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:111022282G>C	ENST00000262839.2	-	10	3081	c.2163C>G	c.(2161-2163)gtC>gtG	p.V721V		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	721					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CATATCTTTTGACTAAATTCC	0.323																																						dbGAP											0													125.0	111.0	116.0					X																	111022282		2203	4298	6501	-	-	-	SO:0001819	synonymous_variant	0			AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.2163C>G	X.37:g.111022282G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP53|O75233|Q5JXY8|Q9Y514	Silent	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC5_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.V721	ENST00000262839.2	37	c.2163	CCDS14561.1	X																																																																																			TRPC5	-	tigrfam_TRP_channel	ENSG00000072315		0.323	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC5	HGNC	protein_coding	OTTHUMT00000057945.1	249	0.80	2	G	NM_012471		111022282	111022282	-1	no_errors	ENST00000262839	ensembl	human	known	69_37n	silent	161	26.48	58	SNP	1.000	C
TRPC5	7224	genome.wustl.edu	37	X	111195346	111195346	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:111195346G>C	ENST00000262839.2	-	2	1221	c.303C>G	c.(301-303)ctC>ctG	p.L101L		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	101					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GTATGGCATAGAGCAATGCAT	0.562																																						dbGAP											0													151.0	131.0	138.0					X																	111195346		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.303C>G	X.37:g.111195346G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP53|O75233|Q5JXY8|Q9Y514	Silent	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC5_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.L101	ENST00000262839.2	37	c.303	CCDS14561.1	X																																																																																			TRPC5	-	superfamily_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	ENSG00000072315		0.562	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC5	HGNC	protein_coding	OTTHUMT00000057945.1	52	0.00	0	G	NM_012471		111195346	111195346	-1	no_errors	ENST00000262839	ensembl	human	known	69_37n	silent	48	12.73	7	SNP	0.993	C
TRPM3	80036	genome.wustl.edu	37	9	73151037	73151037	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:73151037C>G	ENST00000377110.3	-	25	5199	c.4956G>C	c.(4954-4956)aaG>aaC	p.K1652N	TRPM3_ENST00000377105.1_Missense_Mutation_p.K1511N|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000358082.3_Missense_Mutation_p.K1514N|TRPM3_ENST00000396292.4_Missense_Mutation_p.K1524N|TRPM3_ENST00000408909.2_Missense_Mutation_p.K1511N|TRPM3_ENST00000396280.5_Missense_Mutation_p.K1501N|TRPM3_ENST00000357533.2_Missense_Mutation_p.K1656N|TRPM3_ENST00000396285.1_Missense_Mutation_p.K1511N|TRPM3_ENST00000423814.3_Missense_Mutation_p.K1679N|TRPM3_ENST00000360823.2_Missense_Mutation_p.K1514N|TRPM3_ENST00000377106.1_Missense_Mutation_p.K1524N			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1677					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TGGAGAAGCTCTTCCTGGTGT	0.572																																						dbGAP											0													325.0	302.0	310.0					9																	73151037		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377110.3:c.4956G>C	9.37:g.73151037C>G	ENSP00000366314:p.Lys1652Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.K1679N	ENST00000377110.3	37	c.5037	CCDS43835.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.60|14.60	2.584850|2.584850	0.46110|0.46110	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000396280|ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814	.|T;T;T;T;T;T;T;T;T;T	.|0.61859	.|0.18;0.09;0.08;0.07;0.17;0.07;0.09;0.09;0.08;0.17	5.77|5.77	4.69|4.69	0.59074|0.59074	.|.	.|0.352156	.|0.32081	.|N	.|0.006610	T|T	0.57681|0.57681	0.2070|0.2070	L|L	0.27053|0.27053	0.805|0.805	0.42839|0.42839	D|D	0.99404|0.99404	.|B;D;P;B;B;B;B	.|0.71674	.|0.081;0.998;0.948;0.155;0.081;0.241;0.048	.|B;D;P;B;B;B;B	.|0.66351	.|0.127;0.943;0.452;0.04;0.088;0.088;0.04	T|T	0.49679|0.49679	-0.8914|-0.8914	5|10	.|0.20519	.|T	.|0.43	-25.1135|-25.1135	10.4066|10.4066	0.44260|0.44260	0.0:0.8003:0.0:0.1997|0.0:0.8003:0.0:0.1997	.|.	.|1652;1642;1656;1514;1511;1624;1511	.|Q9HCF6-2;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3	.|.;.;.;.;.;.;.	Q|N	1501|1652;1524;1514;1511;1656;1511;1511;1524;1514;1679	.|ENSP00000366314:K1652N;ENSP00000366310:K1524N;ENSP00000354066:K1514N;ENSP00000366309:K1511N;ENSP00000350140:K1656N;ENSP00000386127:K1511N;ENSP00000379581:K1511N;ENSP00000379587:K1524N;ENSP00000350791:K1514N;ENSP00000389542:K1679N	.|ENSP00000350140:K1656N	E|K	-|-	1|3	0|2	TRPM3|TRPM3	72340857|72340857	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	2.284000|2.284000	0.43478|0.43478	2.729000|2.729000	0.93468|0.93468	0.655000|0.655000	0.94253|0.94253	GAG|AAG	TRPM3	-	NULL	ENSG00000083067		0.572	TRPM3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPM3	HGNC	protein_coding	OTTHUMT00000214158.3	113	0.00	0	C	NM_206945		73151037	73151037	-1	no_errors	ENST00000423814	ensembl	human	known	69_37n	missense	145	19.44	35	SNP	1.000	G
TRPM3	80036	genome.wustl.edu	37	9	73477859	73477859	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:73477859C>G	ENST00000377111.2	-	3	670	c.427G>C	c.(427-429)Gag>Cag	p.E143Q	TRPM3_ENST00000377097.3_5'UTR|TRPM3_ENST00000377105.1_5'UTR|TRPM3_ENST00000377101.1_5'UTR|TRPM3_ENST00000358082.3_5'Flank|TRPM3_ENST00000396292.4_5'Flank|TRPM3_ENST00000408909.2_5'Flank|TRPM3_ENST00000396280.5_5'Flank|TRPM3_ENST00000377110.3_Missense_Mutation_p.E143Q|TRPM3_ENST00000361823.5_5'UTR|TRPM3_ENST00000357533.2_Missense_Mutation_p.E145Q|TRPM3_ENST00000437699.3_5'UTR|TRPM3_ENST00000396283.1_5'UTR|TRPM3_ENST00000396285.1_5'Flank|TRPM3_ENST00000423814.3_Missense_Mutation_p.E145Q|TRPM3_ENST00000360823.2_5'UTR|TRPM3_ENST00000377106.1_5'UTR	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	143					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CCTTGGAACTCAATGGTCCCA	0.478																																						dbGAP											0													201.0	193.0	196.0					9																	73477859		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.427G>C	9.37:g.73477859C>G	ENSP00000366315:p.Glu143Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.E145Q	ENST00000377111.2	37	c.433		9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.2|24.2	4.503452|4.503452	0.85176|0.85176	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000357533;ENST00000423814|ENST00000377097	T;T;T;T|.	0.56941|.	0.43;0.43;0.43;0.43|.	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75042|0.75042	0.3796|0.3796	M|M	0.64404|0.64404	1.975|1.975	0.80722|0.80722	D|D	1|1	D;D;P;P|.	0.76494|.	0.957;0.999;0.69;0.653|.	P;D;P;B|.	0.69142|.	0.71;0.962;0.596;0.431|.	T|T	0.70949|0.70949	-0.4733|-0.4733	10|5	0.33940|.	T|.	0.23|.	-21.4345|-21.4345	20.3854|20.3854	0.98941|0.98941	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	143;145;143;143|.	Q9HCF6;Q4VXD2;Q9HCF6-2;Q9HCF6-10|.	TRPM3_HUMAN;.;.;.|.	Q|F	143;143;145;145|32	ENSP00000366315:E143Q;ENSP00000366314:E143Q;ENSP00000350140:E145Q;ENSP00000389542:E145Q|.	ENSP00000350140:E145Q|.	E|L	-|-	1|3	0|2	TRPM3|TRPM3	72667679|72667679	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.603000|4.603000	0.61105|0.61105	2.825000|2.825000	0.97269|0.97269	0.655000|0.655000	0.94253|0.94253	GAG|TTG	TRPM3	-	NULL	ENSG00000083067		0.478	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	TRPM3	HGNC	protein_coding	OTTHUMT00000214157.5	156	0.00	0	C	NM_206945		73477859	73477859	-1	no_errors	ENST00000423814	ensembl	human	known	69_37n	missense	127	36.50	73	SNP	1.000	G
TRPM3	80036	genome.wustl.edu	37	9	73736117	73736117	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:73736117G>A	ENST00000377111.2	-	1	397	c.154C>T	c.(154-156)Ctt>Ttt	p.L52F	TRPM3_ENST00000377110.3_Missense_Mutation_p.L52F|TRPM3_ENST00000357533.2_Intron|TRPM3_ENST00000423814.3_Intron	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	52					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						ACAGATGGAAGAAAGGCTGCG	0.478																																						dbGAP											0													83.0	86.0	85.0					9																	73736117		1966	4159	6125	-	-	-	SO:0001583	missense	0			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.154C>T	9.37:g.73736117G>A	ENSP00000366315:p.Leu52Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.L52F	ENST00000377111.2	37	c.154		9	.	.	.	.	.	.	.	.	.	.	G	14.42	2.531427	0.45073	.	.	ENSG00000083067	ENST00000377111;ENST00000377110	T;T	0.60299	0.2;0.38	5.54	5.54	0.83059	.	.	.	.	.	T	0.51719	0.1691	N	0.03608	-0.345	0.80722	D	1	P;D;D	0.69078	0.824;0.997;0.997	P;D;D	0.75484	0.587;0.986;0.986	T	0.49643	-0.8918	9	0.06236	T	0.91	.	18.063	0.89383	0.0:0.0:1.0:0.0	.	52;52;52	Q9HCF6;Q9HCF6-2;Q9HCF6-10	TRPM3_HUMAN;.;.	F	52	ENSP00000366315:L52F;ENSP00000366314:L52F	ENSP00000366314:L52F	L	-	1	0	TRPM3	72925937	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.924000	0.87555	2.619000	0.88677	0.455000	0.32223	CTT	TRPM3	-	NULL	ENSG00000083067		0.478	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	TRPM3	HGNC	protein_coding	OTTHUMT00000214157.5	64	0.00	0	G	NM_206945		73736117	73736117	-1	no_errors	ENST00000377110	ensembl	human	known	69_37n	missense	56	32.53	27	SNP	1.000	A
TRPM4	54795	genome.wustl.edu	37	19	49703955	49703955	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:49703955G>A	ENST00000252826.5	+	19	2992	c.2866G>A	c.(2866-2868)Gac>Aac	p.D956N	TRPM4_ENST00000355712.5_Missense_Mutation_p.D602N|TRPM4_ENST00000427978.2_Missense_Mutation_p.D811N	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	956					calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GAGGCCACGGGACAGTGACTT	0.607																																						dbGAP											0													63.0	59.0	61.0					19																	49703955		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.2866G>A	19.37:g.49703955G>A	ENSP00000252826:p.Asp956Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.D956N	ENST00000252826.5	37	c.2866	CCDS33073.1	19	.	.	.	.	.	.	.	.	.	.	G	11.02	1.514947	0.27123	.	.	ENSG00000130529	ENST00000252826;ENST00000427978;ENST00000355712	T;T;T	0.62788	0.0;0.0;0.0	4.57	2.22	0.28083	.	0.404866	0.24204	N	0.040589	T	0.71048	0.3294	L	0.50333	1.59	0.33168	D	0.54794	B;B;B;D	0.89917	0.049;0.082;0.046;1.0	B;B;B;D	0.87578	0.026;0.058;0.04;0.998	T	0.76130	-0.3072	10	0.48119	T	0.1	-20.0134	11.458	0.50193	0.0804:0.1277:0.7919:0.0	.	602;782;811;956	B4DIX5;Q8TD43-2;Q8TD43-3;Q8TD43	.;.;.;TRPM4_HUMAN	N	956;811;602	ENSP00000252826:D956N;ENSP00000407492:D811N;ENSP00000347944:D602N	ENSP00000252826:D956N	D	+	1	0	TRPM4	54395767	1.000000	0.71417	0.006000	0.13384	0.038000	0.13279	4.316000	0.59178	0.486000	0.27676	-1.786000	0.00637	GAC	TRPM4	-	NULL	ENSG00000130529		0.607	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPM4	HGNC	protein_coding	OTTHUMT00000465543.2	31	0.00	0	G	NM_017636		49703955	49703955	+1	no_errors	ENST00000252826	ensembl	human	known	69_37n	missense	24	17.24	5	SNP	0.983	A
TRPM8	79054	genome.wustl.edu	37	2	234858712	234858712	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:234858712C>G	ENST00000324695.4	+	9	1102	c.1062C>G	c.(1060-1062)gtC>gtG	p.V354V	AC005538.5_ENST00000455991.1_RNA|TRPM8_ENST00000433712.2_Silent_p.V42V	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	354					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	CTTCTGCCGTCAAGGAGAAGC	0.552																																						dbGAP											0													77.0	72.0	74.0					2																	234858712		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.1062C>G	2.37:g.234858712C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Silent	SNP	pfam_Ion_trans_dom	p.V354	ENST00000324695.4	37	c.1062	CCDS33407.1	2																																																																																			TRPM8	-	NULL	ENSG00000144481		0.552	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPM8	HGNC	protein_coding	OTTHUMT00000131005.4	66	0.00	0	C	NM_024080		234858712	234858712	+1	no_errors	ENST00000324695	ensembl	human	known	69_37n	silent	79	15.05	14	SNP	1.000	G
TRPM8	79054	genome.wustl.edu	37	2	234878345	234878345	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:234878345C>G	ENST00000324695.4	+	16	2072	c.2032C>G	c.(2032-2034)Ctt>Gtt	p.L678V	TRPM8_ENST00000433712.2_Intron	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	678					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	GTAGAATTTTCTTTCTAAGCA	0.438																																						dbGAP											0													162.0	158.0	159.0					2																	234878345		2203	4300	6503	-	-	-	SO:0001583	missense	0			AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.2032C>G	2.37:g.234878345C>G	ENSP00000323926:p.Leu678Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.L678V	ENST00000324695.4	37	c.2032	CCDS33407.1	2	.	.	.	.	.	.	.	.	.	.	C	16.41	3.114516	0.56505	.	.	ENSG00000144481	ENST00000324695	T	0.77229	-1.08	5.42	5.42	0.78866	.	0.000000	0.56097	D	0.000024	T	0.79417	0.4442	M	0.84326	2.69	0.80722	D	1	B	0.31077	0.307	B	0.20767	0.031	T	0.80957	-0.1150	10	0.87932	D	0	-14.8421	17.8597	0.88777	0.0:1.0:0.0:0.0	.	678	Q7Z2W7	TRPM8_HUMAN	V	678	ENSP00000323926:L678V	ENSP00000323926:L678V	L	+	1	0	TRPM8	234543084	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	4.105000	0.57797	2.563000	0.86464	0.650000	0.86243	CTT	TRPM8	-	NULL	ENSG00000144481		0.438	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPM8	HGNC	protein_coding	OTTHUMT00000131005.4	133	0.74	1	C	NM_024080		234878345	234878345	+1	no_errors	ENST00000324695	ensembl	human	known	69_37n	missense	106	24.82	35	SNP	1.000	G
TRRAP	8295	genome.wustl.edu	37	7	98565302	98565302	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:98565302G>T	ENST00000359863.4	+	50	7681	c.7472G>T	c.(7471-7473)tGg>tTg	p.W2491L	TRRAP_ENST00000446306.3_Missense_Mutation_p.W2473L|TRRAP_ENST00000355540.3_Missense_Mutation_p.W2473L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2491					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AACCACTTCTGGATCAAGCAG	0.532																																						dbGAP											0													48.0	44.0	45.0					7																	98565302		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.7472G>T	7.37:g.98565302G>T	ENSP00000352925:p.Trp2491Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D265|O75218|Q9Y631|Q9Y6H4	Nonsense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,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.G2213*	ENST00000359863.4	37	c.6637	CCDS59066.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.277572|5.277572	0.95459|0.95459	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000456197|ENST00000359863;ENST00000355540;ENST00000446306	.|T;T	.|0.61392	.|0.11;0.11	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.80576	.|0.4649	M|M	0.85373|0.85373	2.75|2.75	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.999;0.998;0.998	.|T	.|0.82139	.|-0.0605	.|10	.|0.87932	.|D	.|0	.|.	20.3539|20.3539	0.98825|0.98825	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|2473;2212;2491	.|Q9Y4A5-2;Q59FH1;Q9Y4A5	.|.;.;TRRAP_HUMAN	X|L	2213|2491;2473;2472	.|ENSP00000352925:W2491L;ENSP00000347733:W2473L	.|ENSP00000347733:W2473L	G|W	+|+	1|2	0|0	TRRAP|TRRAP	98403238|98403238	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.869000|9.869000	0.99810|0.99810	2.826000|2.826000	0.97356|0.97356	0.655000|0.655000	0.94253|0.94253	GGA|TGG	TRRAP	-	superfamily_ARM-type_fold	ENSG00000196367		0.532	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRRAP	HGNC	protein_coding	OTTHUMT00000317978.1	17	0.00	0	G	NM_003496		98565302	98565302	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000456197	ensembl	human	novel	69_37n	nonsense	25	28.57	10	SNP	1.000	T
TSC2	7249	genome.wustl.edu	37	16	2135232	2135232	+	Splice_Site	SNP	C	C	T	rs137854425		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:2135232C>T	ENST00000219476.3	+	36	5201	c.4571C>T	c.(4570-4572)tCa>tTa	p.S1524L	TSC2_ENST00000568454.1_Splice_Site_p.S1468L|TSC2_ENST00000353929.4_Splice_Site_p.S1481L|TSC2_ENST00000382538.6_Splice_Site_p.S1409L|TSC2_ENST00000439673.2_Splice_Site_p.S1421L|TSC2_ENST00000401874.2_Splice_Site_p.S1457L|TSC2_ENST00000350773.4_Splice_Site_p.S1501L	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1524					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)				GTGCCACAGTCACAGTCCTTT	0.652			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													dbGAP	yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"""E, O"""	0													81.0	62.0	68.0					16																	2135232		2196	4298	6494	-	-	-	SO:0001630	splice_region_variant	0	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.4570-1C>T	16.37:g.2135232C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP,superfamily_ARM-type_fold,prints_Tuberin,pfscan_Rap_GAP	p.S1524L	ENST00000219476.3	37	c.4571	CCDS10458.1	16	.	.	.	.	.	.	.	.	.	.	C	12.11	1.840016	0.32513	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D	0.94046	-3.34;-3.34;-3.34;-3.34;-3.34	4.2	0.773	0.18516	.	.	.	.	.	D	0.83547	0.5278	N	0.08118	0	0.22918	N	0.998564	B;B;B;B;B;B;B	0.12630	0.0;0.0;0.002;0.0;0.0;0.006;0.0	B;B;B;B;B;B;B	0.10450	0.0;0.0;0.001;0.0;0.0;0.005;0.0	T	0.72007	-0.4420	9	0.46703	T	0.11	3.3985	7.5439	0.27755	0.0:0.2639:0.0:0.7361	.	1409;1421;1501;299;1480;1457;1524	B4DIL8;P49815-6;P49815-4;B3KSR9;P49815-3;P49815-5;P49815	.;.;.;.;.;.;TSC2_HUMAN	L	1524;1458;1481;1421;1409;1501	ENSP00000219476:S1524L;ENSP00000248099:S1481L;ENSP00000399232:S1421L;ENSP00000371978:S1409L;ENSP00000344383:S1501L	ENSP00000219476:S1524L	S	+	2	0	TSC2	2075233	0.000000	0.05858	0.072000	0.20136	0.741000	0.42261	0.070000	0.14573	-0.040000	0.13580	0.313000	0.20887	TCA	TSC2	-	NULL	ENSG00000103197		0.652	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSC2	HGNC	protein_coding	OTTHUMT00000250657.2	43	0.00	0	C	NM_000548	Missense_Mutation	2135232	2135232	+1	no_errors	ENST00000219476	ensembl	human	known	69_37n	missense	55	15.38	10	SNP	0.562	T
TSGA10	80705	genome.wustl.edu	37	2	99634755	99634755	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:99634755C>G	ENST00000393483.3	-	20	2824	c.1980G>C	c.(1978-1980)atG>atC	p.M660I	TSGA10_ENST00000355053.4_Missense_Mutation_p.M660I|TSGA10_ENST00000410001.1_Missense_Mutation_p.M660I|TSGA10_ENST00000539964.1_Missense_Mutation_p.M660I	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	660	Interaction with HIF1A. {ECO:0000250}.				cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						TTGTAGAACTCATATGATAAG	0.398																																						dbGAP											0													132.0	127.0	129.0					2																	99634755		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"""cancer/testis antigen 79"""	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.1980G>C	2.37:g.99634755C>G	ENSP00000377123:p.Met660Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Missense_Mutation	SNP	NULL	p.M660I	ENST00000393483.3	37	c.1980	CCDS2037.1	2	.	.	.	.	.	.	.	.	.	.	C	11.89	1.773269	0.31411	.	.	ENSG00000135951	ENST00000393483;ENST00000410001;ENST00000355053;ENST00000539964;ENST00000409564;ENST00000393482	T;T;T;T;T;T	0.12774	2.65;2.65;2.65;2.65;2.65;2.65	5.04	4.17	0.49024	.	0.363219	0.21481	N	0.073825	T	0.06142	0.0159	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.28459	-1.0043	10	0.34782	T	0.22	0.3721	4.725	0.12936	0.1745:0.6495:0.0:0.176	.	660	Q9BZW7	TSG10_HUMAN	I	660;660;660;660;590;660	ENSP00000377123:M660I;ENSP00000386956:M660I;ENSP00000347161:M660I;ENSP00000444419:M660I;ENSP00000386508:M590I;ENSP00000377122:M660I	ENSP00000347161:M660I	M	-	3	0	TSGA10	99001187	0.949000	0.32298	0.419000	0.26584	0.747000	0.42532	0.863000	0.27913	1.487000	0.48415	0.655000	0.94253	ATG	TSGA10	-	NULL	ENSG00000135951		0.398	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSGA10	HGNC	protein_coding	OTTHUMT00000253125.1	147	0.00	0	C	NM_182911		99634755	99634755	-1	no_errors	ENST00000355053	ensembl	human	known	69_37n	missense	113	16.30	22	SNP	0.953	G
TSGA10	80705	genome.wustl.edu	37	2	99721839	99721839	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:99721839C>G	ENST00000393483.3	-	9	1286	c.442G>C	c.(442-444)Gag>Cag	p.E148Q	TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000355053.4_Missense_Mutation_p.E148Q|TSGA10_ENST00000410001.1_Missense_Mutation_p.E148Q|TSGA10_ENST00000542655.1_Missense_Mutation_p.E148Q|TSGA10_ENST00000539964.1_Missense_Mutation_p.E148Q	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	148					cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						ACTGTACACTCCAGCTCCTCT	0.333																																						dbGAP											0													55.0	58.0	57.0					2																	99721839		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"""cancer/testis antigen 79"""	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.442G>C	2.37:g.99721839C>G	ENSP00000377123:p.Glu148Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Missense_Mutation	SNP	NULL	p.E148Q	ENST00000393483.3	37	c.442	CCDS2037.1	2	.	.	.	.	.	.	.	.	.	.	C	11.12	1.543868	0.27563	.	.	ENSG00000135951	ENST00000393483;ENST00000410001;ENST00000355053;ENST00000539964;ENST00000409564;ENST00000393482;ENST00000542655	T;T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66;0.66	4.98	4.98	0.66077	.	0.072834	0.53938	D	0.000044	T	0.26593	0.0650	N	0.12502	0.225	0.33284	D	0.562671	B;B	0.32573	0.376;0.202	B;B	0.28784	0.094;0.094	T	0.33343	-0.9872	10	0.15952	T	0.53	-14.2758	12.866	0.57939	0.0:0.8361:0.1639:0.0	.	148;148	B7Z925;Q9BZW7	.;TSG10_HUMAN	Q	148	ENSP00000377123:E148Q;ENSP00000386956:E148Q;ENSP00000347161:E148Q;ENSP00000444419:E148Q;ENSP00000386508:E148Q;ENSP00000377122:E148Q;ENSP00000445623:E148Q	ENSP00000347161:E148Q	E	-	1	0	TSGA10	99088271	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.457000	0.45005	2.593000	0.87608	0.650000	0.86243	GAG	TSGA10	-	NULL	ENSG00000135951		0.333	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSGA10	HGNC	protein_coding	OTTHUMT00000253125.1	52	0.00	0	C	NM_182911		99721839	99721839	-1	no_errors	ENST00000355053	ensembl	human	known	69_37n	missense	52	24.64	17	SNP	1.000	G
TSHB	7252	genome.wustl.edu	37	1	115576828	115576828	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:115576828C>T	ENST00000369517.1	+	2	397	c.397C>T	c.(397-399)Ctg>Ttg	p.L133L	TSHB_ENST00000256592.1_Silent_p.L133L			P01222	TSHB_HUMAN	thyroid stimulating hormone, beta	133					anatomical structure morphogenesis (GO:0009653)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|G-protein coupled receptor signaling pathway (GO:0007186)|peptide hormone processing (GO:0016486)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to vitamin A (GO:0033189)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	Lung SC(450;0.211)	all_cancers(81;3.22e-07)|all_epithelial(167;1.4e-06)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		GAAGTCTTATCTGGTAGGATT	0.338																																						dbGAP											0													101.0	100.0	100.0					1																	115576828		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			BC069298	CCDS880.1	1p13	2013-02-28			ENSG00000134200	ENSG00000134200		"""Endogenous ligands"""	12372	protein-coding gene	gene with protein product		188540				2457586, 3243440	Standard	NM_000549		Approved		uc001efs.2	P01222	OTTHUMG00000011881	ENST00000369517.1:c.397C>T	1.37:g.115576828C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AKP0|Q16163	Silent	SNP	pfam_Cys_knot,smart_Gonadotropin_bsu	p.L133	ENST00000369517.1	37	c.397	CCDS880.1	1																																																																																			TSHB	-	NULL	ENSG00000134200		0.338	TSHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHB	HGNC	protein_coding	OTTHUMT00000032833.2	73	0.00	0	C	NM_000549		115576828	115576828	+1	no_errors	ENST00000256592	ensembl	human	known	69_37n	silent	64	21.95	18	SNP	0.000	T
TSHZ3	57616	genome.wustl.edu	37	19	31770204	31770204	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:31770204G>A	ENST00000240587.4	-	2	822	c.495C>T	c.(493-495)ttC>ttT	p.F165F		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	165					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GGTGCCAGTCGAAGCTCCCgc	0.642																																						dbGAP											0													39.0	41.0	40.0					19																	31770204		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.495C>T	19.37:g.31770204G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H0G6|Q9P254	Silent	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.F165	ENST00000240587.4	37	c.495	CCDS12421.2	19																																																																																			TSHZ3	-	NULL	ENSG00000121297		0.642	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHZ3	HGNC	protein_coding	OTTHUMT00000316743.2	78	0.00	0	G	NM_020856		31770204	31770204	-1	no_errors	ENST00000240587	ensembl	human	known	69_37n	silent	67	19.28	16	SNP	0.995	A
TSNAX	7257	genome.wustl.edu	37	1	231672988	231672988	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:231672988G>C	ENST00000366639.4	+	3	309	c.151G>C	c.(151-153)Gac>Cac	p.D51H	TSNAX-DISC1_ENST00000602962.1_Missense_Mutation_p.D51H|TSNAX_ENST00000602825.1_3'UTR	NM_005999.2	NP_005990.1	Q99598	TSNAX_HUMAN	translin-associated factor X	51					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		all_cancers(173;0.0395)|Acute lymphoblastic leukemia(190;3.76e-06)|Prostate(94;0.116)				TGCAAGGCATGACAAATATGA	0.338																																						dbGAP											0													123.0	124.0	124.0					1																	231672988		2203	4300	6503	-	-	-	SO:0001583	missense	0			X95073	CCDS1596.1	1q42.2	2008-02-05			ENSG00000116918	ENSG00000116918			12380	protein-coding gene	gene with protein product		602964				9013868	Standard	NM_005999		Approved	TRAX	uc001huw.3	Q99598	OTTHUMG00000039486	ENST00000366639.4:c.151G>C	1.37:g.231672988G>C	ENSP00000355599:p.Asp51His	Somatic		WXS	Illumina GAIIx	Phase_IV	B1APC6	Missense_Mutation	SNP	pfam_Translin,superfamily_Translin	p.D51H	ENST00000366639.4	37	c.151	CCDS1596.1	1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.938321	0.92526	.	.	ENSG00000116918	ENST00000366639;ENST00000413309	.	.	.	6.08	6.08	0.98989	Translin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.87589	0.6215	M	0.93328	3.405	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89078	0.3474	9	0.66056	D	0.02	.	20.6647	0.99678	0.0:0.0:1.0:0.0	.	51	Q99598	TSNAX_HUMAN	H	51	.	ENSP00000355599:D51H	D	+	1	0	TSNAX	229739611	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.318000	0.96334	2.890000	0.99128	0.655000	0.94253	GAC	TSNAX	-	pfam_Translin,superfamily_Translin	ENSG00000116918		0.338	TSNAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSNAX	HGNC	protein_coding	OTTHUMT00000095267.2	91	0.00	0	G	NM_005999		231672988	231672988	+1	no_errors	ENST00000366639	ensembl	human	known	69_37n	missense	94	20.17	24	SNP	1.000	C
TSPAN14	81619	genome.wustl.edu	37	10	82277672	82277672	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:82277672C>T	ENST00000429989.3	+	9	976	c.753C>T	c.(751-753)atC>atT	p.I251I	TSPAN14_ENST00000372156.1_Silent_p.I251I|TSPAN14_ENST00000341863.6_Silent_p.I194I|TSPAN14_ENST00000372158.1_Silent_p.I251I|TSPAN14_ENST00000372164.3_Silent_p.I234I|TSPAN14_ENST00000265450.5_3'UTR|TSPAN14_ENST00000481124.1_Silent_p.I128I	NM_030927.2	NP_112189.2	Q8NG11	TSN14_HUMAN	tetraspanin 14	251					establishment of protein localization to plasma membrane (GO:0090002)|positive regulation of Notch signaling pathway (GO:0045747)|protein maturation (GO:0051604)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7			Colorectal(32;0.229)			TATTTGGCATCTTCCTGGCAA	0.612																																						dbGAP											0													46.0	40.0	42.0					10																	82277672		2203	4294	6497	-	-	-	SO:0001819	synonymous_variant	0			AF311903	CCDS7369.1, CCDS44448.1	10q23.1	2013-02-14	2005-03-21	2005-03-21	ENSG00000108219	ENSG00000108219		"""Tetraspanins"""	23303	protein-coding gene	gene with protein product			"""transmembrane 4 superfamily member 14"""	TM4SF14		11230166	Standard	NM_030927		Approved	DC-TM4F2, MGC11352	uc001kcj.4	Q8NG11	OTTHUMG00000018615	ENST00000429989.3:c.753C>T	10.37:g.82277672C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHE1|B4DHY6|D3DWD7|D3DWD8|Q567U7|Q9BU34|Q9H0U1	Silent	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.I251	ENST00000429989.3	37	c.753	CCDS7369.1	10																																																																																			TSPAN14	-	pfam_Tetraspanin/Peripherin,prints_Tetraspanin	ENSG00000108219		0.612	TSPAN14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN14	HGNC	protein_coding	OTTHUMT00000049081.2	38	0.00	0	C	NM_030927		82277672	82277672	+1	no_errors	ENST00000372156	ensembl	human	known	69_37n	silent	27	43.75	21	SNP	0.999	T
TSPYL2	64061	genome.wustl.edu	37	X	53112400	53112400	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:53112400C>G	ENST00000375442.4	+	1	852	c.720C>G	c.(718-720)ctC>ctG	p.L240L		NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	240					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|chromatin modification (GO:0016568)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA replication (GO:0008156)|nucleosome assembly (GO:0006334)|regulation of protein kinase activity (GO:0045859)|regulation of signal transduction (GO:0009966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	rDNA binding (GO:0000182)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						TCCTGCGTCTCAAGCGCAAGT	0.532																																						dbGAP											0													91.0	67.0	75.0					X																	53112400		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF273046	CCDS14350.1	Xp11	2014-06-09			ENSG00000184205	ENSG00000184205			24358	protein-coding gene	gene with protein product		300564				11318608, 11395479	Standard	NM_022117		Approved	SE20-4, HRIHFB2216, CTCL, DENTT, CDA1, CINAP, TSPX	uc004drw.3	Q9H2G4	OTTHUMG00000021597	ENST00000375442.4:c.720C>G	X.37:g.53112400C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	O94799|Q96DG7|Q9BZW6	Missense_Mutation	SNP	pfam_NAP_family	p.Q76E	ENST00000375442.4	37	c.226	CCDS14350.1	X																																																																																			TSPYL2	-	pfam_NAP_family	ENSG00000184205		0.532	TSPYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPYL2	HGNC	protein_coding	OTTHUMT00000056718.1	50	0.00	0	C	NM_022117		53112400	53112400	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000578306	ensembl	human	known	69_37n	missense	50	18.03	11	SNP	0.997	G
TSPYL2	64061	genome.wustl.edu	37	X	53116972	53116972	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:53116972G>A	ENST00000375442.4	+	7	2065	c.1933G>A	c.(1933-1935)Gag>Aag	p.E645K		NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	645	Asp-rich.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|chromatin modification (GO:0016568)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA replication (GO:0008156)|nucleosome assembly (GO:0006334)|regulation of protein kinase activity (GO:0045859)|regulation of signal transduction (GO:0009966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	rDNA binding (GO:0000182)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						CCAGCAAGATGAGGACATCTA	0.493											OREG0019795	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													101.0	81.0	88.0					X																	53116972		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF273046	CCDS14350.1	Xp11	2014-06-09			ENSG00000184205	ENSG00000184205			24358	protein-coding gene	gene with protein product		300564				11318608, 11395479	Standard	NM_022117		Approved	SE20-4, HRIHFB2216, CTCL, DENTT, CDA1, CINAP, TSPX	uc004drw.3	Q9H2G4	OTTHUMG00000021597	ENST00000375442.4:c.1933G>A	X.37:g.53116972G>A	ENSP00000364591:p.Glu645Lys	Somatic	990	WXS	Illumina GAIIx	Phase_IV	O94799|Q96DG7|Q9BZW6	Missense_Mutation	SNP	pfam_NAP_family	p.E645K	ENST00000375442.4	37	c.1933	CCDS14350.1	X	.	.	.	.	.	.	.	.	.	.	G	13.63	2.294698	0.40594	.	.	ENSG00000184205	ENST00000375442	T	0.27557	1.66	3.43	3.43	0.39272	.	0.522493	0.15297	N	0.269847	T	0.31263	0.0791	N	0.08118	0	0.09310	N	1	D	0.63880	0.993	D	0.68192	0.956	T	0.08126	-1.0737	10	0.87932	D	0	-7.07	9.4865	0.38933	0.0:0.0:1.0:0.0	.	645	Q9H2G4	TSYL2_HUMAN	K	645	ENSP00000364591:E645K	ENSP00000364591:E645K	E	+	1	0	TSPYL2	53133697	0.226000	0.23696	0.070000	0.20053	0.014000	0.08584	2.300000	0.43620	1.981000	0.57761	0.384000	0.25694	GAG	TSPYL2	-	NULL	ENSG00000184205		0.493	TSPYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPYL2	HGNC	protein_coding	OTTHUMT00000056718.1	143	0.69	1	G	NM_022117		53116972	53116972	+1	no_errors	ENST00000375442	ensembl	human	known	69_37n	missense	136	18.07	30	SNP	0.086	A
TSPYL4	23270	genome.wustl.edu	37	6	116574844	116574844	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:116574844C>T	ENST00000420283.1	-	1	417	c.328G>A	c.(328-330)Gac>Aac	p.D110N	DSE_ENST00000540275.1_5'Flank|RP3-486I3.7_ENST00000448740.2_lincRNA	NM_021648.4	NP_067680.3	Q9UJ04	TSYL4_HUMAN	TSPY-like 4	110					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				endometrium(2)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(2)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.045)|OV - Ovarian serous cystadenocarcinoma(136;0.0666)|GBM - Glioblastoma multiforme(226;0.095)|Epithelial(106;0.125)		TGGCTGCTGTCAGCAGCCTCG	0.642																																						dbGAP											0													6.0	7.0	7.0					6																	116574844		1827	4036	5863	-	-	-	SO:0001583	missense	0				CCDS5106.1	6q22.1	2010-05-12			ENSG00000187189	ENSG00000187189			21559	protein-coding gene	gene with protein product							Standard	NM_021648		Approved	dJ486I3.2, KIAA0721	uc003pwn.3	Q9UJ04	OTTHUMG00000015429	ENST00000420283.1:c.328G>A	6.37:g.116574844C>T	ENSP00000410943:p.Asp110Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DYQ2|O94828|Q96GW8	Missense_Mutation	SNP	pfam_NAP_family	p.D110N	ENST00000420283.1	37	c.328	CCDS5106.1	6	.	.	.	.	.	.	.	.	.	.	C	5.812	0.334128	0.11013	.	.	ENSG00000187189	ENST00000420283	T	0.19669	2.13	3.92	3.03	0.35002	.	.	.	.	.	T	0.06690	0.0171	L	0.41961	1.31	0.09310	N	1	B	0.09022	0.002	B	0.12837	0.008	T	0.32771	-0.9894	9	0.21540	T	0.41	-7.7618	10.2347	0.43275	0.0:0.8977:0.0:0.1023	.	110	Q9UJ04	TSYL4_HUMAN	N	110	ENSP00000410943:D110N	ENSP00000410943:D110N	D	-	1	0	TSPYL4	116681537	0.065000	0.20965	0.027000	0.17364	0.140000	0.21249	1.067000	0.30616	1.201000	0.43203	0.462000	0.41574	GAC	TSPYL4	-	NULL	ENSG00000187189		0.642	TSPYL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPYL4	HGNC	protein_coding	OTTHUMT00000041934.2	22	0.00	0	C			116574844	116574844	-1	no_errors	ENST00000420283	ensembl	human	known	69_37n	missense	27	28.95	11	SNP	0.179	T
TSR1	55720	genome.wustl.edu	37	17	2227535	2227535	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:2227535C>T	ENST00000301364.5	-	15	3449	c.2370G>A	c.(2368-2370)ctG>ctA	p.L790L	SRR_ENST00000344595.5_3'UTR	NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	790					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						TCTCACTTTTCAGCCAGGGTA	0.458																																						dbGAP											0													151.0	143.0	146.0					17																	2227535		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK026565	CCDS32525.1	17p13.3	2006-04-20	2006-04-20			ENSG00000167721			25542	protein-coding gene	gene with protein product		611214	"""TSR1, 20S rRNA accumulation, homolog (yeast)"""			10718198	Standard	NM_018128		Approved	FLJ10534	uc002fuj.3	Q2NL82		ENST00000301364.5:c.2370G>A	17.37:g.2227535C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WUY5|Q9NVT0|Q9P2E6	Silent	SNP	pfam_BMS1_TSR1_C,pfam_AARP2CN,superfamily_Transl_elong_init/rib_B-barrel,smart_AARP2CN	p.L790	ENST00000301364.5	37	c.2370	CCDS32525.1	17																																																																																			TSR1	-	NULL	ENSG00000167721		0.458	TSR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TSR1	HGNC	protein_coding	OTTHUMT00000438180.2	79	0.00	0	C	NM_018128		2227535	2227535	-1	no_errors	ENST00000301364	ensembl	human	known	69_37n	silent	94	22.31	27	SNP	0.880	T
TSR1	55720	genome.wustl.edu	37	17	2236308	2236308	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:2236308C>G	ENST00000301364.5	-	7	2331	c.1252G>C	c.(1252-1254)Gaa>Caa	p.E418Q	SNORD91A_ENST00000390861.1_RNA	NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	418	Glu-rich.				ribosome assembly (GO:0042255)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						TATTCATATTCATCTCCTTCC	0.438																																						dbGAP											0													166.0	151.0	156.0					17																	2236308		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK026565	CCDS32525.1	17p13.3	2006-04-20	2006-04-20			ENSG00000167721			25542	protein-coding gene	gene with protein product		611214	"""TSR1, 20S rRNA accumulation, homolog (yeast)"""			10718198	Standard	NM_018128		Approved	FLJ10534	uc002fuj.3	Q2NL82		ENST00000301364.5:c.1252G>C	17.37:g.2236308C>G	ENSP00000301364:p.Glu418Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WUY5|Q9NVT0|Q9P2E6	Missense_Mutation	SNP	pfam_BMS1_TSR1_C,pfam_AARP2CN,superfamily_Transl_elong_init/rib_B-barrel,smart_AARP2CN	p.E418Q	ENST00000301364.5	37	c.1252	CCDS32525.1	17	.	.	.	.	.	.	.	.	.	.	C	21.6	4.167040	0.78339	.	.	ENSG00000167721	ENST00000301364	T	0.14391	2.51	5.27	5.27	0.74061	.	0.552961	0.20903	N	0.083617	T	0.20577	0.0495	L	0.47716	1.5	0.51233	D	0.999919	P	0.52577	0.954	P	0.47470	0.548	T	0.00327	-1.1814	10	0.46703	T	0.11	.	17.624	0.88089	0.0:1.0:0.0:0.0	.	418	Q2NL82	TSR1_HUMAN	Q	418	ENSP00000301364:E418Q	ENSP00000301364:E418Q	E	-	1	0	TSR1	2183058	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.825000	0.75293	2.749000	0.94314	0.655000	0.94253	GAA	TSR1	-	NULL	ENSG00000167721		0.438	TSR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TSR1	HGNC	protein_coding	OTTHUMT00000438180.2	145	0.00	0	C	NM_018128		2236308	2236308	-1	no_errors	ENST00000301364	ensembl	human	known	69_37n	missense	96	30.94	43	SNP	1.000	G
TSSK1B	83942	genome.wustl.edu	37	5	112770087	112770087	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:112770087G>C	ENST00000390666.3	-	1	641	c.450C>G	c.(448-450)atC>atG	p.I150M	CTD-2201G3.1_ENST00000510381.2_RNA|MCC_ENST00000408903.3_Intron|CTD-2201G3.1_ENST00000383058.4_RNA|CTD-2201G3.1_ENST00000416046.2_RNA	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	150	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)		CGGACAGCTTGATGTTGAAGT	0.562																																						dbGAP											0													90.0	85.0	87.0					5																	112770087		2202	4300	6502	-	-	-	SO:0001583	missense	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.450C>G	5.37:g.112770087G>C	ENSP00000375081:p.Ile150Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8D9	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,prints_Ser-Thr/Tyr_kinase_cat_dom	p.I150M	ENST00000390666.3	37	c.450	CCDS4112.1	5	.	.	.	.	.	.	.	.	.	.	G	8.907	0.957799	0.18507	.	.	ENSG00000212122	ENST00000390666	T	0.27402	1.67	1.24	1.24	0.21308	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.232091	0.21582	U	0.072237	T	0.44850	0.1313	M	0.68593	2.085	0.24705	N	0.993235	D	0.58970	0.984	D	0.71184	0.972	T	0.15896	-1.0421	10	0.72032	D	0.01	.	4.526	0.11981	0.0:0.0:0.6231:0.3768	.	150	Q9BXA7	TSSK1_HUMAN	M	150	ENSP00000375081:I150M	ENSP00000375081:I150M	I	-	3	3	TSSK1B	112797986	0.998000	0.40836	0.991000	0.47740	0.374000	0.29953	0.582000	0.23834	0.635000	0.30488	0.313000	0.20887	ATC	TSSK1B	-	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	ENSG00000212122		0.562	TSSK1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSSK1B	HGNC	protein_coding	OTTHUMT00000250774.2	90	0.00	0	G	NM_032028		112770087	112770087	-1	no_errors	ENST00000390666	ensembl	human	known	69_37n	missense	63	18.18	14	SNP	0.932	C
TSTD2	158427	genome.wustl.edu	37	9	100388039	100388039	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:100388039C>G	ENST00000341170.4	-	3	788	c.406G>C	c.(406-408)Gag>Cag	p.E136Q	TSTD2_ENST00000354801.2_5'UTR	NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2	136										large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						GGAAGGCACTCTTTTAAAGGG	0.408																																						dbGAP											0													169.0	169.0	169.0					9																	100388039		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF258575	CCDS6727.2	9q22.33	2013-09-20	2009-08-12	2009-08-12	ENSG00000136925	ENSG00000136925			30087	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 97"""	C9orf97		12477932	Standard	NM_139246		Approved	PP4189	uc004axn.3	Q5T7W7	OTTHUMG00000020328	ENST00000341170.4:c.406G>C	9.37:g.100388039C>G	ENSP00000342499:p.Glu136Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMJ4|A8K584|Q6ZQZ6|Q8IYM3|Q8WY73|Q96ML6|Q96MU1	Missense_Mutation	SNP	pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom	p.E136Q	ENST00000341170.4	37	c.406	CCDS6727.2	9	.	.	.	.	.	.	.	.	.	.	C	11.69	1.713436	0.30413	.	.	ENSG00000136925	ENST00000341170	T	0.31769	1.48	4.82	4.82	0.62117	.	0.538057	0.19791	N	0.105983	T	0.23727	0.0574	L	0.51422	1.61	0.29389	N	0.862755	B	0.26400	0.148	B	0.20955	0.032	T	0.08229	-1.0732	10	0.19590	T	0.45	-7.1389	7.5656	0.27876	0.0:0.7401:0.1694:0.0905	.	136	Q5T7W7	TSTD2_HUMAN	Q	136	ENSP00000342499:E136Q	ENSP00000342499:E136Q	E	-	1	0	TSTD2	99427860	0.001000	0.12720	0.843000	0.33291	0.166000	0.22503	0.790000	0.26900	2.598000	0.87819	0.655000	0.94253	GAG	TSTD2	-	NULL	ENSG00000136925		0.408	TSTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSTD2	HGNC	protein_coding	OTTHUMT00000053325.4	134	0.00	0	C	NM_139246		100388039	100388039	-1	no_errors	ENST00000341170	ensembl	human	known	69_37n	missense	137	22.16	39	SNP	0.273	G
TTC13	79573	genome.wustl.edu	37	1	231057185	231057185	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:231057185C>T	ENST00000366661.4	-	16	1887	c.1880G>A	c.(1879-1881)aGa>aAa	p.R627K	TTC13_ENST00000366662.4_Missense_Mutation_p.R574K|TTC13_ENST00000414259.1_Missense_Mutation_p.R574K	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	627										central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		AACAAGAATTCTGTCTTTAAT	0.259																																						dbGAP											0													38.0	42.0	41.0					1																	231057185		2193	4283	6476	-	-	-	SO:0001583	missense	0				CCDS1588.1, CCDS44332.1, CCDS44332.2	1q42.2	2013-01-10			ENSG00000143643	ENSG00000143643		"""Tetratricopeptide (TTC) repeat domain containing"""	26204	protein-coding gene	gene with protein product							Standard	NM_024525		Approved	FLJ22584	uc001huf.4	Q8NBP0	OTTHUMG00000037788	ENST00000366661.4:c.1880G>A	1.37:g.231057185C>T	ENSP00000355621:p.Arg627Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AQI1|B1AQI2|Q8IVP8|Q8NBI0|Q8ND20	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R627K	ENST00000366661.4	37	c.1880	CCDS1588.1	1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.687873	0.48097	.	.	ENSG00000143643	ENST00000366661;ENST00000366662;ENST00000414259;ENST00000486879	T;T;T	0.44083	0.93;0.98;0.97	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.41050	0.1142	N	0.16790	0.44	0.80722	D	1	P;B;D;P	0.57257	0.836;0.274;0.979;0.92	B;B;P;B	0.53593	0.366;0.13;0.73;0.444	T	0.11012	-1.0605	10	0.15066	T	0.55	-28.9898	19.6604	0.95864	0.0:1.0:0.0:0.0	.	552;574;574;627	Q69YR0;E9PGV4;Q8NBP0-2;Q8NBP0	.;.;.;TTC13_HUMAN	K	627;574;574;61	ENSP00000355621:R627K;ENSP00000355622:R574K;ENSP00000416631:R574K	ENSP00000355621:R627K	R	-	2	0	TTC13	229123808	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.850000	0.69473	2.648000	0.89879	0.655000	0.94253	AGA	TTC13	-	NULL	ENSG00000143643		0.259	TTC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC13	HGNC	protein_coding	OTTHUMT00000092229.2	53	0.00	0	C	NM_024525		231057185	231057185	-1	no_errors	ENST00000366661	ensembl	human	known	69_37n	missense	45	29.69	19	SNP	1.000	T
TTC13	79573	genome.wustl.edu	37	1	231060620	231060620	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:231060620C>G	ENST00000366661.4	-	14	1695	c.1688G>C	c.(1687-1689)aGa>aCa	p.R563T	TTC13_ENST00000366662.4_Missense_Mutation_p.R510T|TTC13_ENST00000414259.1_Missense_Mutation_p.R510T	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	563										central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		AAACATGTCTCTCCACTGCAT	0.423																																						dbGAP											0													239.0	194.0	209.0					1																	231060620		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1588.1, CCDS44332.1, CCDS44332.2	1q42.2	2013-01-10			ENSG00000143643	ENSG00000143643		"""Tetratricopeptide (TTC) repeat domain containing"""	26204	protein-coding gene	gene with protein product							Standard	NM_024525		Approved	FLJ22584	uc001huf.4	Q8NBP0	OTTHUMG00000037788	ENST00000366661.4:c.1688G>C	1.37:g.231060620C>G	ENSP00000355621:p.Arg563Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AQI1|B1AQI2|Q8IVP8|Q8NBI0|Q8ND20	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R563T	ENST00000366661.4	37	c.1688	CCDS1588.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.208868	0.95069	.	.	ENSG00000143643	ENST00000366661;ENST00000366662;ENST00000414259	T;T;T	0.33216	1.42;1.42;1.42	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.58163	0.2103	M	0.71036	2.16	0.80722	D	1	D;D;D;D	0.89917	1.0;0.993;1.0;1.0	D;D;D;D	0.87578	0.998;0.977;0.997;0.998	T	0.59904	-0.7366	10	0.87932	D	0	-11.0432	19.6869	0.95982	0.0:1.0:0.0:0.0	.	488;510;510;563	Q69YR0;E9PGV4;Q8NBP0-2;Q8NBP0	.;.;.;TTC13_HUMAN	T	563;510;510	ENSP00000355621:R563T;ENSP00000355622:R510T;ENSP00000416631:R510T	ENSP00000355621:R563T	R	-	2	0	TTC13	229127243	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.726000	0.93360	0.655000	0.94253	AGA	TTC13	-	NULL	ENSG00000143643		0.423	TTC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC13	HGNC	protein_coding	OTTHUMT00000092229.2	134	0.00	0	C	NM_024525		231060620	231060620	-1	no_errors	ENST00000366661	ensembl	human	known	69_37n	missense	148	16.38	29	SNP	1.000	G
TTC17	55761	genome.wustl.edu	37	11	43471726	43471726	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:43471726G>T	ENST00000039989.4	+	20	2895	c.2881G>T	c.(2881-2883)Gac>Tac	p.D961Y		NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	961					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						GCATACCCTGGACCACTTGCA	0.512																																						dbGAP											0													115.0	98.0	104.0					11																	43471726		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"""Tetratricopeptide (TTC) repeat domain containing"""	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.2881G>T	11.37:g.43471726G>T	ENSP00000039989:p.Asp961Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	G3XAB3|Q8NEC0	Missense_Mutation	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.D961Y	ENST00000039989.4	37	c.2881	CCDS31466.1	11	.	.	.	.	.	.	.	.	.	.	G	28.0	4.878266	0.91664	.	.	ENSG00000052841	ENST00000039989	T	0.41758	0.99	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.68805	0.3041	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.70004	-0.4991	10	0.87932	D	0	-22.979	20.452	0.99131	0.0:0.0:1.0:0.0	.	961	Q96AE7	TTC17_HUMAN	Y	961	ENSP00000039989:D961Y	ENSP00000039989:D961Y	D	+	1	0	TTC17	43428302	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.838000	0.97847	0.591000	0.81541	GAC	TTC17	-	NULL	ENSG00000052841		0.512	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC17	HGNC	protein_coding	OTTHUMT00000389577.2	69	0.00	0	G	NM_018259		43471726	43471726	+1	no_errors	ENST00000039989	ensembl	human	known	69_37n	missense	95	13.64	15	SNP	1.000	T
TTC21A	199223	genome.wustl.edu	37	3	39150702	39150702	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:39150702G>C	ENST00000431162.2	+	2	288	c.154G>C	c.(154-156)Gaa>Caa	p.E52Q	TTC21A_ENST00000440121.1_Missense_Mutation_p.E52Q|GORASP1_ENST00000422110.2_5'Flank|GORASP1_ENST00000479927.1_5'Flank|GORASP1_ENST00000319283.3_5'Flank|TTC21A_ENST00000301819.6_Missense_Mutation_p.E52Q			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	52										NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		AGTCCTCAAAGAAGGTAAGGA	0.502																																						dbGAP											0													67.0	67.0	67.0					3																	39150702		1951	4128	6079	-	-	-	SO:0001583	missense	0			AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"""Tetratricopeptide (TTC) repeat domain containing"""	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.154G>C	3.37:g.39150702G>C	ENSP00000398211:p.Glu52Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E52Q	ENST00000431162.2	37	c.154	CCDS46800.1	3	.	.	.	.	.	.	.	.	.	.	G	18.08	3.544083	0.65198	.	.	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	T;T;T	0.59638	0.25;0.25;0.25	5.54	5.54	0.83059	Tetratricopeptide-like helical (1);	0.000000	0.64402	D	0.000006	T	0.71771	0.3379	M	0.70787	2.145	0.40210	D	0.977618	P;D;D;D;D;D	0.89917	0.514;1.0;1.0;0.999;0.999;1.0	B;D;D;P;D;D	0.68943	0.156;0.955;0.955;0.903;0.961;0.955	T	0.67063	-0.5765	10	0.10636	T	0.68	-15.3358	16.982	0.86331	0.0:0.0:1.0:0.0	.	52;52;52;52;52;52	Q8NDW8-6;Q8NDW8-5;Q8NDW8-7;Q8NDW8;F8WDN4;F5H6V8	.;.;.;TT21A_HUMAN;.;.	Q	52	ENSP00000301819:E52Q;ENSP00000398211:E52Q;ENSP00000410882:E52Q	ENSP00000301819:E52Q	E	+	1	0	TTC21A	39125706	0.998000	0.40836	0.969000	0.41365	0.585000	0.36419	2.702000	0.47102	2.618000	0.88619	0.563000	0.77884	GAA	TTC21A	-	NULL	ENSG00000168026		0.502	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC21A	HGNC	protein_coding	OTTHUMT00000377829.1	76	0.00	0	G	NM_145755		39150702	39150702	+1	no_errors	ENST00000301819	ensembl	human	known	69_37n	missense	84	15.15	15	SNP	1.000	C
TTC21A	199223	genome.wustl.edu	37	3	39166649	39166649	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:39166649G>C	ENST00000431162.2	+	10	1347	c.1213G>C	c.(1213-1215)Gag>Cag	p.E405Q	TTC21A_ENST00000440121.1_Missense_Mutation_p.E356Q|TTC21A_ENST00000301819.6_Missense_Mutation_p.E405Q			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	405										NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TGGGAAGTCTGAGGTCAGAGC	0.542											OREG0015487	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													68.0	69.0	69.0					3																	39166649		2007	4166	6173	-	-	-	SO:0001583	missense	0			AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"""Tetratricopeptide (TTC) repeat domain containing"""	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.1213G>C	3.37:g.39166649G>C	ENSP00000398211:p.Glu405Gln	Somatic	883	WXS	Illumina GAIIx	Phase_IV	A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E405Q	ENST00000431162.2	37	c.1213	CCDS46800.1	3	.	.	.	.	.	.	.	.	.	.	G	11.59	1.683541	0.29872	.	.	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	T;T;T	0.35048	1.33;1.33;1.33	5.72	-0.325	0.12702	.	0.681973	0.14952	N	0.288838	T	0.25680	0.0625	L	0.54323	1.7	0.27548	N	0.950587	B;B;B	0.17667	0.007;0.023;0.013	B;B;B	0.15052	0.007;0.012;0.005	T	0.31503	-0.9941	10	0.12430	T	0.62	-8.2112	6.0804	0.19938	0.4234:0.0:0.4581:0.1185	.	356;405;405	Q8NDW8-6;Q8NDW8-7;Q8NDW8	.;.;TT21A_HUMAN	Q	405;387;405;356	ENSP00000301819:E405Q;ENSP00000398211:E405Q;ENSP00000410882:E356Q	ENSP00000301819:E405Q	E	+	1	0	TTC21A	39141653	0.934000	0.31675	0.621000	0.29145	0.995000	0.86356	0.950000	0.29122	-0.128000	0.11641	0.603000	0.83216	GAG	TTC21A	-	NULL	ENSG00000168026		0.542	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC21A	HGNC	protein_coding	OTTHUMT00000377829.1	68	0.00	0	G	NM_145755		39166649	39166649	+1	no_errors	ENST00000301819	ensembl	human	known	69_37n	missense	92	18.58	21	SNP	0.732	C
TTC21B	79809	genome.wustl.edu	37	2	166806235	166806235	+	Splice_Site	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:166806235C>G	ENST00000243344.7	-	2	159		c.e2-1		AC010127.5_ENST00000443032.1_RNA|AC010127.5_ENST00000440322.1_RNA	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B						forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TAATCAAAGTCTAAATGGAAA	0.308																																						dbGAP											0													56.0	56.0	56.0					2																	166806235		2203	4298	6501	-	-	-	SO:0001630	splice_region_variant	0			AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.22-1G>C	2.37:g.166806235C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Splice_Site	SNP	-	e2-1	ENST00000243344.7	37	c.22-1	CCDS33315.1	2	.	.	.	.	.	.	.	.	.	.	C	18.76	3.693427	0.68386	.	.	ENSG00000123607	ENST00000243344	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0497	0.89344	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TTC21B	166514481	1.000000	0.71417	0.993000	0.49108	0.875000	0.50365	6.923000	0.75817	2.344000	0.79699	0.591000	0.81541	.	TTC21B	-	-	ENSG00000123607		0.308	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC21B	HGNC	protein_coding	OTTHUMT00000333770.1	62	0.00	0	C	NM_024753	Intron	166806235	166806235	-1	no_errors	ENST00000243344	ensembl	human	known	69_37n	splice_site	53	24.29	17	SNP	1.000	G
TTC23L	153657	genome.wustl.edu	37	5	34864560	34864560	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:34864560C>G	ENST00000505624.1	+	6	658	c.555C>G	c.(553-555)ttC>ttG	p.F185L	TTC23L_ENST00000514080.1_3'UTR	NM_144725.3	NP_653326.3	Q6PF05	TT23L_HUMAN	tetratricopeptide repeat domain 23-like	185										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1)	22						AAGCCTATTTCAACCTGCAGA	0.428																																						dbGAP											0													101.0	98.0	99.0					5																	34864560		1869	4112	5981	-	-	-	SO:0001583	missense	0				CCDS54840.1	5p13.2	2008-07-14			ENSG00000205838	ENSG00000205838			26355	protein-coding gene	gene with protein product						12477932	Standard	NM_144725		Approved	FLJ25439	uc003jiu.3	Q6PF05	OTTHUMG00000162020	ENST00000505624.1:c.555C>G	5.37:g.34864560C>G	ENSP00000422188:p.Phe185Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6RGS4|Q8N7R3|Q96LJ2	Missense_Mutation	SNP	NULL	p.F185L	ENST00000505624.1	37	c.555	CCDS54840.1	5	.	.	.	.	.	.	.	.	.	.	C	10.76	1.440585	0.25900	.	.	ENSG00000205838	ENST00000505624;ENST00000535797	T	0.73258	-0.73	5.6	4.73	0.59995	.	0.571293	0.18299	N	0.145485	T	0.60983	0.2311	L	0.45581	1.43	0.24625	N	0.993658	B	0.20988	0.05	B	0.17722	0.019	T	0.43829	-0.9367	10	0.12430	T	0.62	-15.588	12.8531	0.57869	0.0:0.9205:0.0:0.0795	.	185	Q6PF05	TT23L_HUMAN	L	185	ENSP00000422188:F185L	ENSP00000425242:F185L	F	+	3	2	TTC23L	34900317	0.991000	0.36638	1.000000	0.80357	0.974000	0.67602	2.010000	0.40913	2.643000	0.89663	0.563000	0.77884	TTC	TTC23L	-	NULL	ENSG00000205838		0.428	TTC23L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC23L	HGNC	protein_coding	OTTHUMT00000366819.1	91	0.00	0	C	NM_144725		34864560	34864560	+1	no_errors	ENST00000505624	ensembl	human	known	69_37n	missense	66	14.29	11	SNP	0.998	G
TTC26	79989	genome.wustl.edu	37	7	138872262	138872262	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:138872262G>A	ENST00000464848.1	+	17	1610	c.1530G>A	c.(1528-1530)atG>atA	p.M510I	TTC26_ENST00000478836.2_Missense_Mutation_p.M403I|TTC26_ENST00000495038.1_Missense_Mutation_p.M379I|TTC26_ENST00000430935.1_Intron|TTC26_ENST00000343187.4_Missense_Mutation_p.M479I			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	510					cilium assembly (GO:0042384)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle B (GO:0030992)|primary cilium (GO:0072372)				breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						TTTTCCAGATGATCATAGCTG	0.433																																						dbGAP											0													138.0	136.0	137.0					7																	138872262		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK022633	CCDS5852.1, CCDS55172.1, CCDS55173.1, CCDS75665.1	7q34	2013-01-11			ENSG00000105948	ENSG00000105948		"""Intraflagellar transport homologs"", ""Tetratricopeptide (TTC) repeat domain containing"""	21882	protein-coding gene	gene with protein product							Standard	NM_001144920		Approved	FLJ12571, dyf-13, DYF13	uc003vus.2	A0AVF1	OTTHUMG00000157472	ENST00000464848.1:c.1530G>A	7.37:g.138872262G>A	ENSP00000419279:p.Met510Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1S3|B7Z5M0|C9J2N7|F8W724|Q9H9S8|Q9NTC0	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR-contain_dom	p.M510I	ENST00000464848.1	37	c.1530	CCDS5852.1	7	.	.	.	.	.	.	.	.	.	.	G	13.57	2.276684	0.40294	.	.	ENSG00000105948	ENST00000495038;ENST00000478836;ENST00000464848;ENST00000343187	T;T;T;T	0.42900	0.96;0.98;0.98;0.98	5.17	4.28	0.50868	.	0.048735	0.85682	D	0.000000	T	0.40862	0.1134	M	0.71581	2.175	0.80722	D	1	P;B;B	0.35481	0.504;0.048;0.063	B;B;B	0.29942	0.109;0.016;0.016	T	0.33240	-0.9876	10	0.35671	T	0.21	.	14.0426	0.64687	0.0:0.0:0.8477:0.1523	.	379;479;510	B7Z2T3;F8W724;A0AVF1	.;.;TTC26_HUMAN	I	379;403;510;479	ENSP00000418788:M379I;ENSP00000419178:M403I;ENSP00000419279:M510I;ENSP00000339135:M479I	ENSP00000339135:M479I	M	+	3	0	TTC26	138522802	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.425000	0.59875	1.159000	0.42565	0.591000	0.81541	ATG	TTC26	-	NULL	ENSG00000105948		0.433	TTC26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC26	HGNC	protein_coding	OTTHUMT00000348919.2	99	0.00	0	G	NM_024926		138872262	138872262	+1	no_errors	ENST00000464848	ensembl	human	known	69_37n	missense	90	28.57	36	SNP	1.000	A
TTC28	23331	genome.wustl.edu	37	22	28385929	28385929	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:28385929G>C	ENST00000397906.2	-	21	5785	c.5644C>G	c.(5644-5646)Cag>Gag	p.Q1882E	TTC28-AS1_ENST00000452612.1_RNA|TTC28-AS1_ENST00000453632.1_RNA|TTC28-AS1_ENST00000417497.1_RNA|TTC28-AS1_ENST00000454741.1_RNA|TTC28-AS1_ENST00000430525.1_RNA|TTC28-AS1_ENST00000434221.1_RNA|TTC28-AS1_ENST00000424161.1_RNA|TTC28-AS1_ENST00000428584.1_RNA|TTC28-AS1_ENST00000430853.1_RNA|TTC28-AS1_ENST00000435348.1_RNA	NM_001145418.1	NP_001138890.1	Q96AY4	TTC28_HUMAN	tetratricopeptide repeat domain 28	1882					mitotic nuclear division (GO:0007067)|regulation of mitotic cell cycle (GO:0007346)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)				endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)	12						ATGGAGACCTGAATGGGAGCT	0.592																																						dbGAP											0													35.0	37.0	37.0					22																	28385929		692	1591	2283	-	-	-	SO:0001583	missense	0			AB028966	CCDS46678.1	22q12.1	2013-01-10			ENSG00000100154	ENSG00000100154		"""Tetratricopeptide (TTC) repeat domain containing"""	29179	protein-coding gene	gene with protein product		615098				10470851	Standard	NM_001145418		Approved	KIAA1043	uc003adp.4	Q96AY4	OTTHUMG00000151006	ENST00000397906.2:c.5644C>G	22.37:g.28385929G>C	ENSP00000381003:p.Gln1882Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	K7ZRV2|O95928|O95929|Q5W189|Q9NTE4|Q9UG31|Q9UGG5|Q9UPV8|Q9Y3S5	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.Q1882E	ENST00000397906.2	37	c.5644	CCDS46678.1	22	.	.	.	.	.	.	.	.	.	.	G	9.843	1.191445	0.21954	.	.	ENSG00000100154	ENST00000397906;ENST00000431039	D	0.87491	-2.26	4.68	4.68	0.58851	.	0.073231	0.56097	D	0.000034	T	0.75649	0.3878	N	0.13235	0.315	0.54753	D	0.999982	B	0.06786	0.001	B	0.08055	0.003	T	0.70490	-0.4857	10	0.07325	T	0.83	-12.5066	16.9683	0.86293	0.0:0.0:1.0:0.0	.	1882	Q96AY4	TTC28_HUMAN	E	1882;161	ENSP00000381003:Q1882E	ENSP00000381003:Q1882E	Q	-	1	0	TTC28	26715929	1.000000	0.71417	0.988000	0.46212	0.993000	0.82548	9.168000	0.94781	2.319000	0.78375	0.563000	0.77884	CAG	TTC28	-	NULL	ENSG00000100154		0.592	TTC28-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	TTC28	HGNC	protein_coding	OTTHUMT00000320930.2	25	0.00	0	G	XM_929318		28385929	28385929	-1	no_errors	ENST00000397906	ensembl	human	novel	69_37n	missense	40	13.04	6	SNP	1.000	C
TTC28	23331	genome.wustl.edu	37	22	28410294	28410294	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:28410294G>A	ENST00000397906.2	-	14	4301	c.4160C>T	c.(4159-4161)tCg>tTg	p.S1387L		NM_001145418.1	NP_001138890.1	Q96AY4	TTC28_HUMAN	tetratricopeptide repeat domain 28	1387					mitotic nuclear division (GO:0007067)|regulation of mitotic cell cycle (GO:0007346)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)				endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)	12						CTTGGCAAACGAGCTCTGCCT	0.632																																						dbGAP											0													81.0	84.0	83.0					22																	28410294		692	1591	2283	-	-	-	SO:0001583	missense	0			AB028966	CCDS46678.1	22q12.1	2013-01-10			ENSG00000100154	ENSG00000100154		"""Tetratricopeptide (TTC) repeat domain containing"""	29179	protein-coding gene	gene with protein product		615098				10470851	Standard	NM_001145418		Approved	KIAA1043	uc003adp.4	Q96AY4	OTTHUMG00000151006	ENST00000397906.2:c.4160C>T	22.37:g.28410294G>A	ENSP00000381003:p.Ser1387Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	K7ZRV2|O95928|O95929|Q5W189|Q9NTE4|Q9UG31|Q9UGG5|Q9UPV8|Q9Y3S5	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S1387L	ENST00000397906.2	37	c.4160	CCDS46678.1	22	.	.	.	.	.	.	.	.	.	.	G	15.00	2.703511	0.48412	.	.	ENSG00000100154	ENST00000397906	D	0.88741	-2.42	4.37	4.37	0.52481	.	0.716740	0.13237	N	0.403176	D	0.82737	0.5102	L	0.27053	0.805	0.44995	D	0.998019	B	0.23990	0.095	B	0.18871	0.023	T	0.76796	-0.2827	10	0.28530	T	0.3	-1.9643	16.0489	0.80740	0.0:0.0:1.0:0.0	.	1387	Q96AY4	TTC28_HUMAN	L	1387	ENSP00000381003:S1387L	ENSP00000381003:S1387L	S	-	2	0	TTC28	26740294	1.000000	0.71417	0.292000	0.24919	0.755000	0.42902	4.475000	0.60210	2.436000	0.82500	0.650000	0.86243	TCG	TTC28	-	NULL	ENSG00000100154		0.632	TTC28-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	TTC28	HGNC	protein_coding	OTTHUMT00000320930.2	40	0.00	0	G	XM_929318		28410294	28410294	-1	no_errors	ENST00000397906	ensembl	human	novel	69_37n	missense	60	14.29	10	SNP	0.896	A
TTC28	23331	genome.wustl.edu	37	22	28501412	28501412	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:28501412C>G	ENST00000397906.2	-	8	3303	c.3162G>C	c.(3160-3162)gaG>gaC	p.E1054D		NM_001145418.1	NP_001138890.1	Q96AY4	TTC28_HUMAN	tetratricopeptide repeat domain 28	1054					mitotic nuclear division (GO:0007067)|regulation of mitotic cell cycle (GO:0007346)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)				endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)	12						CCACAGCCCTCTCGAAGGTGC	0.537																																						dbGAP											0													111.0	98.0	102.0					22																	28501412		692	1591	2283	-	-	-	SO:0001583	missense	0			AB028966	CCDS46678.1	22q12.1	2013-01-10			ENSG00000100154	ENSG00000100154		"""Tetratricopeptide (TTC) repeat domain containing"""	29179	protein-coding gene	gene with protein product		615098				10470851	Standard	NM_001145418		Approved	KIAA1043	uc003adp.4	Q96AY4	OTTHUMG00000151006	ENST00000397906.2:c.3162G>C	22.37:g.28501412C>G	ENSP00000381003:p.Glu1054Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	K7ZRV2|O95928|O95929|Q5W189|Q9NTE4|Q9UG31|Q9UGG5|Q9UPV8|Q9Y3S5	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E1054D	ENST00000397906.2	37	c.3162	CCDS46678.1	22	.	.	.	.	.	.	.	.	.	.	C	18.11	3.551793	0.65311	.	.	ENSG00000100154	ENST00000397906	D	0.93133	-3.17	5.81	4.8	0.61643	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.90283	0.6961	N	0.21448	0.665	0.54753	D	0.999982	P	0.46395	0.877	P	0.49953	0.627	D	0.88589	0.3142	10	0.31617	T	0.26	-31.5096	11.8352	0.52319	0.0:0.8554:0.0:0.1446	.	1054	Q96AY4	TTC28_HUMAN	D	1054	ENSP00000381003:E1054D	ENSP00000381003:E1054D	E	-	3	2	TTC28	26831412	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.271000	0.58902	1.464000	0.47987	0.655000	0.94253	GAG	TTC28	-	smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000100154		0.537	TTC28-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	TTC28	HGNC	protein_coding	OTTHUMT00000320930.2	101	0.00	0	C	XM_929318		28501412	28501412	-1	no_errors	ENST00000397906	ensembl	human	novel	69_37n	missense	126	28.00	49	SNP	1.000	G
TTC29	83894	genome.wustl.edu	37	4	147724638	147724638	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:147724638C>T	ENST00000325106.4	-	11	1527	c.1301G>A	c.(1300-1302)aGa>aAa	p.R434K	TTC29_ENST00000513335.1_Missense_Mutation_p.R460K|TTC29_ENST00000398886.4_Missense_Mutation_p.R460K|TTC29_ENST00000506019.1_5'UTR	NM_031956.2	NP_114162.2	Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	434										breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					AATGTTACCTCTGCTCTCCTT	0.383																																						dbGAP											0													97.0	96.0	96.0					4																	147724638		1929	4147	6076	-	-	-	SO:0001583	missense	0			AF345910	CCDS47141.1, CCDS75200.1	4q31.23	2013-01-11				ENSG00000137473		"""Tetratricopeptide (TTC) repeat domain containing"""	29936	protein-coding gene	gene with protein product						12477932	Standard	NM_031956		Approved	NYD-SP14	uc003ikw.4	Q8NA56		ENST00000325106.4:c.1301G>A	4.37:g.147724638C>T	ENSP00000316740:p.Arg434Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A4GU95|Q9BXB6	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR-contain_dom	p.R460K	ENST00000325106.4	37	c.1379	CCDS47141.1	4	.	.	.	.	.	.	.	.	.	.	C	17.99	3.522319	0.64747	.	.	ENSG00000137473	ENST00000513335;ENST00000398886;ENST00000325106;ENST00000504425	T;T;T;T	0.49720	1.02;1.02;1.05;0.77	5.84	5.84	0.93424	.	0.105309	0.64402	D	0.000004	T	0.69351	0.3101	M	0.65498	2.005	0.41667	D	0.989214	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.996	T	0.67821	-0.5571	10	0.49607	T	0.09	-22.2242	20.1551	0.98106	0.0:1.0:0.0:0.0	.	434;460;434	E7EQ14;G5E9Z5;Q8NA56	.;.;TTC29_HUMAN	K	460;460;434;434	ENSP00000423505:R460K;ENSP00000381861:R460K;ENSP00000316740:R434K;ENSP00000425778:R434K	ENSP00000316740:R434K	R	-	2	0	TTC29	147944088	1.000000	0.71417	0.137000	0.22149	0.043000	0.13939	4.085000	0.57657	2.760000	0.94817	0.655000	0.94253	AGA	TTC29	-	NULL	ENSG00000137473		0.383	TTC29-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC29	HGNC	protein_coding		83	0.00	0	C	NM_031956		147724638	147724638	-1	no_errors	ENST00000398886	ensembl	human	known	69_37n	missense	94	21.01	25	SNP	0.998	T
TTC3	7267	genome.wustl.edu	37	21	38467718	38467718	+	Missense_Mutation	SNP	C	C	G	rs375469497		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr21:38467718C>G	ENST00000399017.2	+	9	3503	c.756C>G	c.(754-756)atC>atG	p.I252M	TTC3_ENST00000354749.2_Missense_Mutation_p.I252M|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000399010.1_Missense_Mutation_p.I252M|TTC3_ENST00000540756.1_Intron|TTC3_ENST00000355666.1_Missense_Mutation_p.I252M	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	252					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TAGCTATTATCTATTACACCA	0.333																																					Ovarian(38;194 1649 35661)	dbGAP											0													69.0	75.0	73.0					21																	38467718		2203	4299	6502	-	-	-	SO:0001583	missense	0			D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.756C>G	21.37:g.38467718C>G	ENSP00000381981:p.Ile252Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.I252M	ENST00000399017.2	37	c.756	CCDS13651.1	21	.	.	.	.	.	.	.	.	.	.	C	17.11	3.305804	0.60305	.	.	ENSG00000182670	ENST00000418766;ENST00000450533;ENST00000438055;ENST00000355666;ENST00000399010;ENST00000399017;ENST00000354749	T;T;T;T;T;T;T	0.59502	1.27;1.27;1.27;0.26;0.26;0.26;0.26	5.34	2.45	0.29901	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.108391	0.39210	N	0.001438	T	0.57125	0.2032	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.56135	-0.8029	10	0.48119	T	0.1	-3.613	3.3286	0.07076	0.1909:0.5435:0.0:0.2656	.	252	P53804	TTC3_HUMAN	M	252;252;234;252;252;252;252	ENSP00000403943:I252M;ENSP00000408456:I252M;ENSP00000391891:I234M;ENSP00000347889:I252M;ENSP00000381974:I252M;ENSP00000381981:I252M;ENSP00000346791:I252M	ENSP00000346791:I252M	I	+	3	3	TTC3	37389588	0.973000	0.33851	1.000000	0.80357	0.995000	0.86356	-0.146000	0.10250	0.715000	0.32103	-0.188000	0.12872	ATC	TTC3	-	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000182670		0.333	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC3	HGNC	protein_coding	OTTHUMT00000194776.1	85	0.00	0	C			38467718	38467718	+1	no_errors	ENST00000354749	ensembl	human	known	69_37n	missense	63	19.23	15	SNP	0.996	G
TTC3	7267	genome.wustl.edu	37	21	38511012	38511012	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr21:38511012G>T	ENST00000399017.2	+	19	4404	c.1657G>T	c.(1657-1659)Gag>Tag	p.E553*	TTC3_ENST00000354749.2_Nonsense_Mutation_p.E553*|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000540756.1_Nonsense_Mutation_p.E243*|TTC3_ENST00000355666.1_Nonsense_Mutation_p.E553*	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	553					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				AGGACAGCCTGAGGTAAGATT	0.333																																					Ovarian(38;194 1649 35661)	dbGAP											0													154.0	143.0	147.0					21																	38511012		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.1657G>T	21.37:g.38511012G>T	ENSP00000381981:p.Glu553*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Nonsense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.E553*	ENST00000399017.2	37	c.1657	CCDS13651.1	21	.	.	.	.	.	.	.	.	.	.	G	39	7.781869	0.98486	.	.	ENSG00000182670	ENST00000418766;ENST00000450533;ENST00000438055;ENST00000355666;ENST00000540756;ENST00000399017;ENST00000354749	.	.	.	5.22	5.22	0.72569	.	0.190865	0.37012	N	0.002289	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-26.6793	18.7169	0.91679	0.0:0.0:1.0:0.0	.	.	.	.	X	553;553;535;553;243;553;553	.	ENSP00000346791:E553X	E	+	1	0	TTC3	37432882	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.185000	0.65076	2.603000	0.88011	0.563000	0.77884	GAG	TTC3	-	pfscan_TPR-contain_dom	ENSG00000182670		0.333	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC3	HGNC	protein_coding	OTTHUMT00000194776.1	209	0.00	0	G			38511012	38511012	+1	no_errors	ENST00000354749	ensembl	human	known	69_37n	nonsense	71	50.35	72	SNP	1.000	T
TTC3	7267	genome.wustl.edu	37	21	38522414	38522414	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr21:38522414G>A	ENST00000399017.2	+	24	4902	c.2155G>A	c.(2155-2157)Gaa>Aaa	p.E719K	TTC3_ENST00000354749.2_Missense_Mutation_p.E719K|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000540756.1_Missense_Mutation_p.E409K|TTC3_ENST00000355666.1_Missense_Mutation_p.E719K	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	719					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				CCCTGACTGTGAAGGTGTCAT	0.323																																					Ovarian(38;194 1649 35661)	dbGAP											0													103.0	97.0	99.0					21																	38522414		2203	4299	6502	-	-	-	SO:0001583	missense	0			D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.2155G>A	21.37:g.38522414G>A	ENSP00000381981:p.Glu719Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.E719K	ENST00000399017.2	37	c.2155	CCDS13651.1	21	.	.	.	.	.	.	.	.	.	.	G	10.91	1.483163	0.26598	.	.	ENSG00000182670	ENST00000418766;ENST00000450533;ENST00000438055;ENST00000355666;ENST00000540756;ENST00000399017;ENST00000354749	T;T;T;T;T;T;T	0.42131	2.79;0.98;2.79;3.13;0.99;3.13;3.13	5.32	2.44	0.29823	.	0.482695	0.20953	N	0.082713	T	0.17323	0.0416	N	0.08118	0	0.27400	N	0.954861	B;P	0.35745	0.278;0.518	B;B	0.31946	0.057;0.138	T	0.12734	-1.0536	10	0.18276	T	0.48	-9.1682	6.5385	0.22367	0.2728:0.1533:0.5739:0.0	.	409;719	B4DSZ9;P53804	.;TTC3_HUMAN	K	719;719;701;719;409;719;719	ENSP00000403943:E719K;ENSP00000408456:E719K;ENSP00000391891:E701K;ENSP00000347889:E719K;ENSP00000442875:E409K;ENSP00000381981:E719K;ENSP00000346791:E719K	ENSP00000346791:E719K	E	+	1	0	TTC3	37444284	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.163000	0.31798	0.715000	0.32103	0.557000	0.71058	GAA	TTC3	-	NULL	ENSG00000182670		0.323	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC3	HGNC	protein_coding	OTTHUMT00000194776.1	129	0.00	0	G			38522414	38522414	+1	no_errors	ENST00000354749	ensembl	human	known	69_37n	missense	68	22.73	20	SNP	0.999	A
TTC32	130502	genome.wustl.edu	37	2	20101480	20101480	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:20101480C>A	ENST00000333610.3	-	1	267	c.136G>T	c.(136-138)Gag>Tag	p.E46*	TTC32_ENST00000402414.1_Nonsense_Mutation_p.E46*|RP11-79O8.1_ENST00000607190.1_lincRNA	NM_001008237.1	NP_001008238.1	Q5I0X7	TTC32_HUMAN	tetratricopeptide repeat domain 32	46										kidney(2)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGGGACTCTCGTCGCTGGAG	0.637																																						dbGAP											0													50.0	52.0	51.0					2																	20101480		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC057850	CCDS33151.1	2p24.1	2013-01-10			ENSG00000183891	ENSG00000183891		"""Tetratricopeptide (TTC) repeat domain containing"""	32954	protein-coding gene	gene with protein product							Standard	NM_001008237		Approved		uc002rdg.3	Q5I0X7	OTTHUMG00000151776	ENST00000333610.3:c.136G>T	2.37:g.20101480C>A	ENSP00000333018:p.Glu46*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,pfam_TPR-4,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E46*	ENST00000333610.3	37	c.136	CCDS33151.1	2	.	.	.	.	.	.	.	.	.	.	C	21.0	4.088684	0.76756	.	.	ENSG00000183891	ENST00000402414;ENST00000333610	.	.	.	4.2	1.34	0.21922	.	0.894651	0.09419	N	0.804775	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-16.6588	4.1743	0.10345	0.0:0.5908:0.1932:0.216	.	.	.	.	X	46	.	ENSP00000333018:E46X	E	-	1	0	TTC32	19964961	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-0.531000	0.06171	0.155000	0.19261	0.655000	0.94253	GAG	TTC32	-	NULL	ENSG00000183891		0.637	TTC32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC32	HGNC	protein_coding	OTTHUMT00000323868.1	50	0.00	0	C	NM_001008237		20101480	20101480	-1	no_errors	ENST00000333610	ensembl	human	known	69_37n	nonsense	59	28.05	23	SNP	0.000	A
CFAP46	54777	genome.wustl.edu	37	10	134755214	134755214	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:134755214C>G	ENST00000368586.5	-	3	287	c.187G>C	c.(187-189)Gag>Cag	p.E63Q	TTC40_ENST00000368582.2_Missense_Mutation_p.E63Q|TTC40_ENST00000368585.3_Missense_Mutation_p.E63Q|RP13-137A17.4_ENST00000443633.1_lincRNA	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						TCGCTCACCTCTGGCTGCCTC	0.617																																						dbGAP											0													74.0	69.0	71.0					10																	134755214		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000368586.5:c.187G>C	10.37:g.134755214C>G	ENSP00000357575:p.Glu63Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.E63Q	ENST00000368586.5	37	c.187	CCDS58101.1	10	.	.	.	.	.	.	.	.	.	.	C	13.76	2.334454	0.41297	.	.	ENSG00000171811	ENST00000368586;ENST00000368582;ENST00000368585	D;D;D	0.83506	-1.73;-1.73;-1.73	4.45	3.52	0.40303	.	0.557582	0.15258	N	0.271935	D	0.86213	0.5879	L	0.60455	1.87	0.09310	N	1	D;D	0.57571	0.958;0.98	P;P	0.55303	0.649;0.773	T	0.77973	-0.2386	10	0.49607	T	0.09	.	13.9608	0.64177	0.0:0.8455:0.1545:0.0	.	63;63	Q5SR76-2;Q5SR76-1	.;.	Q	63	ENSP00000357575:E63Q;ENSP00000357571:E63Q;ENSP00000357574:E63Q	ENSP00000357571:E63Q	E	-	1	0	C10orf93	134605204	0.011000	0.17503	0.004000	0.12327	0.437000	0.31866	2.308000	0.43690	1.138000	0.42230	-0.182000	0.12963	GAG	TTC40	-	NULL	ENSG00000171811		0.617	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TTC40	HGNC	protein_coding	OTTHUMT00000051095.3	55	0.00	0	C			134755214	134755214	-1	no_errors	ENST00000368582	ensembl	human	known	69_37n	missense	37	28.85	15	SNP	0.023	G
TTLL2	83887	genome.wustl.edu	37	6	167754302	167754302	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:167754302C>T	ENST00000239587.5	+	3	1002	c.914C>T	c.(913-915)tCc>tTc	p.S305F		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	305	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)		ligase activity (GO:0016874)	p.S305F(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		ATCAATAAATCCGGGGCCTCT	0.433																																						dbGAP											1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											129.0	138.0	135.0					6																	167754302		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK093039	CCDS5301.1	6q27	2013-02-14		2004-01-14	ENSG00000120440	ENSG00000120440		"""Tubulin tyrosine ligase-like family"""	21211	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 104"""	C6orf104		11054573	Standard	XM_006715572		Approved	NYD-TSPG, dJ366N23.3	uc003qvs.1	Q9BWV7	OTTHUMG00000016023	ENST00000239587.5:c.914C>T	6.37:g.167754302C>T	ENSP00000239587:p.Ser305Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RB11|B3KS77|Q7Z6R8|Q86X22	Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.S305F	ENST00000239587.5	37	c.914	CCDS5301.1	6	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.450598	0.00175	.	.	ENSG00000120440	ENST00000239587;ENST00000540954	T	0.05649	3.41	3.64	-1.37	0.09056	.	1.287090	0.05756	N	0.604084	T	0.00666	0.0022	N	0.11673	0.155	0.09310	N	1	B	0.13145	0.007	B	0.12837	0.008	T	0.47086	-0.9144	10	0.10377	T	0.69	.	0.42	0.00455	0.2487:0.2556:0.2708:0.2249	.	305	Q9BWV7	TTLL2_HUMAN	F	305;232	ENSP00000239587:S305F	ENSP00000239587:S305F	S	+	2	0	TTLL2	167674292	0.001000	0.12720	0.000000	0.03702	0.033000	0.12548	0.032000	0.13732	-0.428000	0.07339	-0.494000	0.04653	TCC	TTLL2	-	pfam_Tub_tyr_ligase	ENSG00000120440		0.433	TTLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL2	HGNC	protein_coding	OTTHUMT00000043127.3	112	0.00	0	C	NM_031949		167754302	167754302	+1	no_errors	ENST00000239587	ensembl	human	known	69_37n	missense	70	32.04	33	SNP	0.000	T
TTLL6	284076	genome.wustl.edu	37	17	46865235	46865235	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:46865235G>C	ENST00000393382.3	-	11	1668	c.1527C>G	c.(1525-1527)ttC>ttG	p.F509L	TTLL6_ENST00000433608.2_Missense_Mutation_p.F202L	NM_001130918.1	NP_001124390.1			tubulin tyrosine ligase-like family, member 6											endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TGTTGTCCTGGAAAAACTTCT	0.498																																						dbGAP											0													145.0	152.0	150.0					17																	46865235		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"""Tubulin tyrosine ligase-like family"""	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.1527C>G	17.37:g.46865235G>C	ENSP00000377043:p.Phe509Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.F509L	ENST00000393382.3	37	c.1527	CCDS45724.1	17	.	.	.	.	.	.	.	.	.	.	G	18.01	3.526974	0.64860	.	.	ENSG00000170703	ENST00000440941;ENST00000305326;ENST00000433608;ENST00000393382	.	.	.	5.38	4.39	0.52855	.	0.244478	0.32548	N	0.005954	T	0.70133	0.3189	M	0.65677	2.01	0.39398	D	0.966536	P;B;D	0.89917	0.584;0.395;1.0	B;B;D	0.85130	0.138;0.208;0.997	T	0.68565	-0.5375	9	0.34782	T	0.22	.	10.3949	0.44194	0.1566:0.0:0.8434:0.0	.	461;262;202	Q8N841;D3DTW0;G5E937	TTLL6_HUMAN;.;.	L	509;202;187;461	.	ENSP00000302547:F202L	F	-	3	2	TTLL6	44220234	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.543000	0.60684	2.694000	0.91930	0.555000	0.69702	TTC	TTLL6	-	NULL	ENSG00000170703		0.498	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	TTLL6	HGNC	protein_coding	OTTHUMT00000346939.3	105	0.00	0	G	NM_173623		46865235	46865235	-1	no_errors	ENST00000393382	ensembl	human	known	69_37n	missense	351	14.98	62	SNP	1.000	C
TTLL9	164395	genome.wustl.edu	37	20	30496503	30496503	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:30496503G>C	ENST00000375938.4	+	5	569	c.316G>C	c.(316-318)Gag>Cag	p.E106Q	TTLL9_ENST00000535842.1_Missense_Mutation_p.E106Q|TTLL9_ENST00000375921.2_Missense_Mutation_p.E56Q|TTLL9_ENST00000375934.4_Missense_Mutation_p.E88Q|TTLL9_ENST00000310998.4_Missense_Mutation_p.E56Q|TTLL9_ENST00000375922.4_Missense_Mutation_p.E56Q			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	106	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				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)			GAACCACTATGAGGTGAGCTG	0.542																																						dbGAP											0													45.0	47.0	47.0					20																	30496503		2089	4218	6307	-	-	-	SO:0001583	missense	0			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.316G>C	20.37:g.30496503G>C	ENSP00000365105:p.Glu106Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NH06|A6NIS5|B3KSG8|Q3SXZ8|Q5JYS3|Q5JYS4	Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.E106Q	ENST00000375938.4	37	c.316	CCDS42863.1	20	.	.	.	.	.	.	.	.	.	.	G	19.51	3.841587	0.71488	.	.	ENSG00000131044	ENST00000375938;ENST00000535842;ENST00000310998;ENST00000375921;ENST00000375934;ENST00000375922	T;T;T;T;T;T	0.06849	3.25;3.25;3.25;3.25;3.25;3.25	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.30727	0.0774	M	0.80422	2.495	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.05115	-1.0905	10	0.87932	D	0	.	14.9857	0.71345	0.0:0.0:1.0:0.0	.	106	Q3SXZ7	TTLL9_HUMAN	Q	106;106;56;56;88;56	ENSP00000365105:E106Q;ENSP00000442515:E106Q;ENSP00000308980:E56Q;ENSP00000365086:E56Q;ENSP00000365100:E88Q;ENSP00000365088:E56Q	ENSP00000308980:E56Q	E	+	1	0	TTLL9	29960164	1.000000	0.71417	0.994000	0.49952	0.455000	0.32408	6.665000	0.74442	2.377000	0.81083	0.561000	0.74099	GAG	TTLL9	-	pfam_Tub_tyr_ligase	ENSG00000131044		0.542	TTLL9-205	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL9	HGNC	protein_coding		48	0.00	0	G	NM_001008409		30496503	30496503	+1	no_errors	ENST00000375938	ensembl	human	known	69_37n	missense	46	17.86	10	SNP	1.000	C
TTN	7273	genome.wustl.edu	37	2	179397415	179397415	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:179397415C>T	ENST00000591111.1	-	308	99228	c.99004G>A	c.(99004-99006)Gat>Aat	p.D33002N	TTN_ENST00000342175.6_Missense_Mutation_p.D25770N|TTN_ENST00000460472.2_Missense_Mutation_p.D25578N|TTN_ENST00000359218.5_Missense_Mutation_p.D25703N|TTN_ENST00000342992.6_Missense_Mutation_p.D32075N|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D34643N|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000588716.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33002					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)			AAGTCATAATCAGGAGAAGGT	0.443																																						dbGAP											0													64.0	62.0	63.0					2																	179397415		1923	4121	6044	-	-	-	SO:0001583	missense	0			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.99004G>A	2.37:g.179397415C>T	ENSP00000465570:p.Asp33002Asn	Somatic		WXS	Illumina GAIIx	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.D32075N	ENST00000591111.1	37	c.96223		2	.	.	.	.	.	.	.	.	.	.	C	20.7	4.027147	0.75390	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.62639	0.01;0.25;0.23;0.22	5.95	5.95	0.96441	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.48259	0.1490	N	0.08118	0	0.48185	D	0.999608	B;B;B;B	0.31383	0.321;0.321;0.321;0.321	B;B;B;B	0.31812	0.136;0.136;0.136;0.136	T	0.53365	-0.8449	9	0.87932	D	0	.	19.9739	0.97296	0.0:1.0:0.0:0.0	.	25578;25703;25770;33002	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	32075;25578;25770;25703;25575	ENSP00000343764:D32075N;ENSP00000434586:D25578N;ENSP00000340554:D25770N;ENSP00000352154:D25703N	ENSP00000340554:D25770N	D	-	1	0	TTN	179105661	1.000000	0.71417	0.760000	0.31359	0.977000	0.68977	4.750000	0.62162	2.826000	0.97356	0.563000	0.77884	GAT	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom	ENSG00000155657		0.443	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	73	0.00	0	C	NM_133378		179397415	179397415	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	51	23.88	16	SNP	0.999	T
TTN	7273	genome.wustl.edu	37	2	179422694	179422694	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:179422694G>A	ENST00000591111.1	-	278	82688	c.82464C>T	c.(82462-82464)ttC>ttT	p.F27488F	TTN_ENST00000342175.6_Silent_p.F20256F|TTN_ENST00000460472.2_Silent_p.F20064F|TTN_ENST00000359218.5_Silent_p.F20189F|TTN_ENST00000342992.6_Silent_p.F26561F|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Silent_p.F29129F			Q8WZ42	TITIN_HUMAN	titin	27488					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)			CAATGTTAATGAAAGCTTTGG	0.453																																						dbGAP											0													171.0	171.0	171.0					2																	179422694		1937	4129	6066	-	-	-	SO:0001819	synonymous_variant	0			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.82464C>T	2.37:g.179422694G>A		Somatic		WXS	Illumina GAIIx	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	Silent	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.F26561	ENST00000591111.1	37	c.79683		2																																																																																			TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub	ENSG00000155657		0.453	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	55	0.00	0	G	NM_133378		179422694	179422694	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	silent	45	25.00	15	SNP	1.000	A
TTN	7273	genome.wustl.edu	37	2	179431833	179431833	+	Silent	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:179431833C>A	ENST00000591111.1	-	276	74327	c.74103G>T	c.(74101-74103)gtG>gtT	p.V24701V	TTN_ENST00000342175.6_Silent_p.V17469V|TTN_ENST00000460472.2_Silent_p.V17277V|TTN_ENST00000359218.5_Silent_p.V17402V|TTN_ENST00000342992.6_Silent_p.V23774V|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Silent_p.V26342V			Q8WZ42	TITIN_HUMAN	titin	24701	Fibronectin type-III 79. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			GAGAATTGGTCACAACTTCTG	0.418																																						dbGAP											0													120.0	119.0	119.0					2																	179431833		1875	4107	5982	-	-	-	SO:0001819	synonymous_variant	0			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.74103G>T	2.37:g.179431833C>A		Somatic		WXS	Illumina GAIIx	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	Silent	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.V23774	ENST00000591111.1	37	c.71322		2																																																																																			TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.418	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	46	0.00	0	C	NM_133378		179431833	179431833	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	silent	63	19.23	15	SNP	0.998	A
TTN	7273	genome.wustl.edu	37	2	179438716	179438716	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:179438716C>G	ENST00000591111.1	-	276	67444	c.67220G>C	c.(67219-67221)aGa>aCa	p.R22407T	TTN_ENST00000342175.6_Missense_Mutation_p.R15175T|TTN_ENST00000460472.2_Missense_Mutation_p.R14983T|TTN_ENST00000359218.5_Missense_Mutation_p.R15108T|TTN_ENST00000342992.6_Missense_Mutation_p.R21480T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R24048T			Q8WZ42	TITIN_HUMAN	titin	22407	Ig-like 116.				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)			AGCTTCCAGTCTGAATGCTTC	0.423																																						dbGAP											0													64.0	61.0	62.0					2																	179438716		1877	4102	5979	-	-	-	SO:0001583	missense	0			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.67220G>C	2.37:g.179438716C>G	ENSP00000465570:p.Arg22407Thr	Somatic		WXS	Illumina GAIIx	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.R21480T	ENST00000591111.1	37	c.64439		2	.	.	.	.	.	.	.	.	.	.	C	8.488	0.861319	0.17178	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.37752	1.18;1.18;1.18;1.18	5.82	3.46	0.39613	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.26048	0.0635	L	0.28344	0.845	0.34431	D	0.698586	B;B;B;B	0.25048	0.117;0.117;0.117;0.117	B;B;B;B	0.27608	0.044;0.044;0.081;0.081	T	0.25710	-1.0124	9	0.87932	D	0	.	8.2277	0.31579	0.0:0.3213:0.0:0.6787	.	14983;15108;15175;22407	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	21480;14983;15175;15108;14981	ENSP00000343764:R21480T;ENSP00000434586:R14983T;ENSP00000340554:R15175T;ENSP00000352154:R15108T	ENSP00000340554:R15175T	R	-	2	0	TTN	179146962	0.997000	0.39634	0.986000	0.45419	0.947000	0.59692	1.706000	0.37878	0.475000	0.27415	-0.302000	0.09304	AGA	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000155657		0.423	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	118	0.00	0	C	NM_133378		179438716	179438716	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	89	18.35	20	SNP	1.000	G
TTN	7273	genome.wustl.edu	37	2	179444447	179444447	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:179444447C>T	ENST00000591111.1	-	269	62778	c.62554G>A	c.(62554-62556)Gaa>Aaa	p.E20852K	TTN_ENST00000342175.6_Missense_Mutation_p.E13620K|TTN_ENST00000460472.2_Missense_Mutation_p.E13428K|TTN_ENST00000359218.5_Missense_Mutation_p.E13553K|TTN_ENST00000342992.6_Missense_Mutation_p.E19925K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E22493K			Q8WZ42	TITIN_HUMAN	titin	20852	Fibronectin type-III 51. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			TTATTTTCTTCAGTCAGGAAA	0.413																																						dbGAP											0													118.0	108.0	111.0					2																	179444447		1889	4111	6000	-	-	-	SO:0001583	missense	0			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.62554G>A	2.37:g.179444447C>T	ENSP00000465570:p.Glu20852Lys	Somatic		WXS	Illumina GAIIx	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.E19925K	ENST00000591111.1	37	c.59773		2	.	.	.	.	.	.	.	.	.	.	C	13.84	2.356470	0.41700	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56444	0.46;0.46;0.46;0.46	5.51	5.51	0.81932	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.33585	0.0868	N	0.02247	-0.625	0.39076	D	0.960816	B;B;B;B	0.14438	0.01;0.01;0.01;0.01	B;B;B;B	0.15052	0.012;0.012;0.012;0.012	T	0.32798	-0.9893	9	0.87932	D	0	.	19.7707	0.96363	0.0:1.0:0.0:0.0	.	13428;13553;13620;20852	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	19925;13428;13620;13553;13426	ENSP00000343764:E19925K;ENSP00000434586:E13428K;ENSP00000340554:E13620K;ENSP00000352154:E13553K	ENSP00000340554:E13620K	E	-	1	0	TTN	179152693	0.998000	0.40836	0.998000	0.56505	0.744000	0.42396	4.006000	0.57083	2.735000	0.93741	0.563000	0.77884	GAA	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.413	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	106	0.00	0	C	NM_133378		179444447	179444447	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	88	17.76	19	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179455824	179455824	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:179455824C>G	ENST00000591111.1	-	254	55929	c.55705G>C	c.(55705-55707)Gag>Cag	p.E18569Q	TTN_ENST00000342175.6_Missense_Mutation_p.E11337Q|TTN_ENST00000460472.2_Missense_Mutation_p.E11145Q|TTN_ENST00000359218.5_Missense_Mutation_p.E11270Q|TTN_ENST00000342992.6_Missense_Mutation_p.E17642Q|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E20210Q|TTN-AS1_ENST00000590743.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18569	Fibronectin type-III 34. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			TCTTGTTTCTCAACAATATAA	0.428																																						dbGAP											0													109.0	107.0	108.0					2																	179455824		1874	4102	5976	-	-	-	SO:0001583	missense	0			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.55705G>C	2.37:g.179455824C>G	ENSP00000465570:p.Glu18569Gln	Somatic		WXS	Illumina GAIIx	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.E17642Q	ENST00000591111.1	37	c.52924		2	.	.	.	.	.	.	.	.	.	.	C	13.71	2.318615	0.40996	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	6.11	6.11	0.99139	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.73225	0.3560	M	0.68317	2.08	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.72982	0.961;0.961;0.961;0.979	T	0.72991	-0.4123	9	0.87932	D	0	.	20.7342	0.99715	0.0:1.0:0.0:0.0	.	11145;11270;11337;18569	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	17642;11145;11337;11270;11143	ENSP00000343764:E17642Q;ENSP00000434586:E11145Q;ENSP00000340554:E11337Q;ENSP00000352154:E11270Q	ENSP00000340554:E11337Q	E	-	1	0	TTN	179164070	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.906000	0.99361	0.655000	0.94253	GAG	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.428	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	65	0.00	0	C	NM_133378		179455824	179455824	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	61	31.46	28	SNP	1.000	G
TTN	7273	genome.wustl.edu	37	2	179468902	179468902	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:179468902C>G	ENST00000591111.1	-	232	49813	c.49589G>C	c.(49588-49590)gGa>gCa	p.G16530A	TTN_ENST00000342175.6_Missense_Mutation_p.G9298A|TTN_ENST00000460472.2_Missense_Mutation_p.G9106A|TTN_ENST00000359218.5_Missense_Mutation_p.G9231A|TTN_ENST00000342992.6_Missense_Mutation_p.G15603A|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G18171A			Q8WZ42	TITIN_HUMAN	titin	16530	Fibronectin type-III 20. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			TTTTGGTTTTCCTGGAGGTCC	0.468																																						dbGAP											0													126.0	124.0	125.0					2																	179468902		1925	4127	6052	-	-	-	SO:0001583	missense	0			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.49589G>C	2.37:g.179468902C>G	ENSP00000465570:p.Gly16530Ala	Somatic		WXS	Illumina GAIIx	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.G15603A	ENST00000591111.1	37	c.46808		2	.	.	.	.	.	.	.	.	.	.	C	12.68	2.012051	0.35511	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	6.16	6.16	0.99307	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.50769	0.1635	L	0.43923	1.385	0.37537	D	0.918151	P;P;P;P	0.50819	0.939;0.939;0.939;0.939	P;P;P;P	0.45538	0.484;0.484;0.484;0.484	T	0.59500	-0.7443	9	0.87932	D	0	.	13.9788	0.64291	0.0:0.9314:0.0:0.0686	.	9106;9231;9298;16530	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	A	15603;9106;9298;9231;9106	ENSP00000343764:G15603A;ENSP00000434586:G9106A;ENSP00000340554:G9298A;ENSP00000352154:G9231A	ENSP00000340554:G9298A	G	-	2	0	TTN	179177147	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.963000	0.49184	2.937000	0.99478	0.650000	0.86243	GGA	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.468	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	99	0.00	0	C	NM_133378		179468902	179468902	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	113	17.52	24	SNP	1.000	G
TTN	7273	genome.wustl.edu	37	2	179482160	179482160	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:179482160C>T	ENST00000591111.1	-	204	42953	c.42729G>A	c.(42727-42729)ctG>ctA	p.L14243L	TTN_ENST00000342175.6_Silent_p.L7011L|TTN_ENST00000460472.2_Silent_p.L6819L|TTN_ENST00000359218.5_Silent_p.L6944L|TTN_ENST00000342992.6_Silent_p.L13316L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Silent_p.L15884L			Q8WZ42	TITIN_HUMAN	titin	14243	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			CTCCATCTTTCAGAGGAGGTT	0.418																																						dbGAP											0													84.0	75.0	78.0					2																	179482160		1860	4092	5952	-	-	-	SO:0001819	synonymous_variant	0			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.42729G>A	2.37:g.179482160C>T		Somatic		WXS	Illumina GAIIx	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	Silent	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.L13316	ENST00000591111.1	37	c.39948		2																																																																																			TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.418	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	111	0.00	0	C	NM_133378		179482160	179482160	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	silent	128	12.93	19	SNP	0.990	T
TTN	7273	genome.wustl.edu	37	2	179486000	179486000	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:179486000G>T	ENST00000591111.1	-	196	40746	c.40522C>A	c.(40522-40524)Cca>Aca	p.P13508T	TTN_ENST00000342175.6_Missense_Mutation_p.P6276T|TTN_ENST00000460472.2_Missense_Mutation_p.P6084T|TTN_ENST00000359218.5_Missense_Mutation_p.P6209T|TTN_ENST00000342992.6_Missense_Mutation_p.P12581T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P15149T			Q8WZ42	TITIN_HUMAN	titin	13508	Ig-like 91.				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)			CACTGGACTGGAAAGCTTTCT	0.403																																						dbGAP											0													127.0	112.0	116.0					2																	179486000		1843	4079	5922	-	-	-	SO:0001583	missense	0			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.40522C>A	2.37:g.179486000G>T	ENSP00000465570:p.Pro13508Thr	Somatic		WXS	Illumina GAIIx	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.P12581T	ENST00000591111.1	37	c.37741		2	.	.	.	.	.	.	.	.	.	.	G	9.409	1.079953	0.20309	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	6.17	3.37	0.38596	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.55049	0.1896	L	0.45137	1.4	0.21861	N	0.999504	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.001;0.001	T	0.50833	-0.8781	9	0.87932	D	0	.	12.1609	0.54103	0.0:0.6492:0.2819:0.0689	.	6084;6209;6276;13508	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	12581;6084;6276;6209;6084	ENSP00000343764:P12581T;ENSP00000434586:P6084T;ENSP00000340554:P6276T;ENSP00000352154:P6209T	ENSP00000340554:P6276T	P	-	1	0	TTN	179194245	0.999000	0.42202	0.988000	0.46212	0.853000	0.48598	1.557000	0.36299	0.454000	0.26884	-0.175000	0.13238	CCA	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000155657		0.403	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	188	0.00	0	G	NM_133378		179486000	179486000	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	170	20.93	45	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179575848	179575848	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:179575848G>A	ENST00000591111.1	-	95	27388	c.27164C>T	c.(27163-27165)tCc>tTc	p.S9055F	TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S8128F|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S9372F			Q8WZ42	TITIN_HUMAN	titin	13193	Ig-like 73.				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)			AGCTGTGCAGGAATACTGGCC	0.403																																						dbGAP											0													104.0	104.0	104.0					2																	179575848		1831	4084	5915	-	-	-	SO:0001583	missense	0			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.27164C>T	2.37:g.179575848G>A	ENSP00000465570:p.Ser9055Phe	Somatic		WXS	Illumina GAIIx	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.S8128F	ENST00000591111.1	37	c.24383		2	.	.	.	.	.	.	.	.	.	.	G	15.13	2.740757	0.49045	.	.	ENSG00000155657	ENST00000342992	T	0.42900	0.96	5.76	5.76	0.90799	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.59032	0.2164	M	0.65320	2	0.80722	D	1	D	0.54397	0.966	P	0.55161	0.77	T	0.59731	-0.7399	9	0.87932	D	0	.	20.3242	0.98691	0.0:0.0:1.0:0.0	.	9055	Q8WZ42	TITIN_HUMAN	F	8128	ENSP00000343764:S8128F	ENSP00000343764:S8128F	S	-	2	0	TTN	179284093	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.346000	0.97056	2.882000	0.98803	0.655000	0.94253	TCC	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000155657		0.403	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	76	0.00	0	G	NM_133378		179575848	179575848	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	64	24.71	21	SNP	1.000	A
TTN	7273	genome.wustl.edu	37	2	179586854	179586854	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:179586854C>T	ENST00000591111.1	-	76	21809	c.21585G>A	c.(21583-21585)aaG>aaA	p.K7195K	TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.K6268K|RP11-171I2.1_ENST00000590024.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Silent_p.K7512K			Q8WZ42	TITIN_HUMAN	titin	12764					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)			AGGGAGATTTCTTGGGTTCTG	0.388																																						dbGAP											0													161.0	154.0	157.0					2																	179586854		1907	4113	6020	-	-	-	SO:0001819	synonymous_variant	0			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.21585G>A	2.37:g.179586854C>T		Somatic		WXS	Illumina GAIIx	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	Silent	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.K6268	ENST00000591111.1	37	c.18804		2																																																																																			TTN	-	superfamily_RNaseH-like_dom	ENSG00000155657		0.388	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	77	0.00	0	C	NM_133378		179586854	179586854	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	silent	77	24.51	25	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179588746	179588746	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:179588746C>T	ENST00000591111.1	-	71	20513	c.20289G>A	c.(20287-20289)gaG>gaA	p.E6763E	TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.E5836E|RP11-171I2.1_ENST00000590024.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Silent_p.E7080E			Q8WZ42	TITIN_HUMAN	titin	12375	Ig-like 49.				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)			TCTTGGTTTTCTCATGAAACC	0.418																																						dbGAP											0													95.0	90.0	92.0					2																	179588746		1927	4133	6060	-	-	-	SO:0001819	synonymous_variant	0			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.20289G>A	2.37:g.179588746C>T		Somatic		WXS	Illumina GAIIx	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	Silent	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.E5836	ENST00000591111.1	37	c.17508		2																																																																																			TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000155657		0.418	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	72	0.00	0	C	NM_133378		179588746	179588746	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	silent	73	15.12	13	SNP	0.981	T
TTN	7273	genome.wustl.edu	37	2	179596445	179596445	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:179596445G>A	ENST00000591111.1	-	56	16430	c.16206C>T	c.(16204-16206)atC>atT	p.I5402I	TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.I4475I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Silent_p.I5719I			Q8WZ42	TITIN_HUMAN	titin	12220	Ig-like 34.				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)			TGGCACTGCAGATGCTGCTGC	0.478																																						dbGAP											0													103.0	103.0	103.0					2																	179596445		1948	4140	6088	-	-	-	SO:0001819	synonymous_variant	0			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.16206C>T	2.37:g.179596445G>A		Somatic		WXS	Illumina GAIIx	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	Silent	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.I4475	ENST00000591111.1	37	c.13425		2																																																																																			TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like	ENSG00000155657		0.478	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	49	0.00	0	G	NM_133378		179596445	179596445	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	silent	65	22.62	19	SNP	0.544	A
TTN	7273	genome.wustl.edu	37	2	179606109	179606109	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:179606109G>C	ENST00000591111.1	-	46	11124	c.10900C>G	c.(10900-10902)Caa>Gaa	p.Q3634E	TTN_ENST00000342175.6_Missense_Mutation_p.Q3780E|TTN_ENST00000460472.2_Missense_Mutation_p.Q3588E|TTN_ENST00000359218.5_Missense_Mutation_p.Q3713E|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.Q3951E|TTN-AS1_ENST00000590773.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13940	Ig-like 22.				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)			GGAAGCCCTTGAGCACAGCGA	0.463																																						dbGAP											0													145.0	140.0	142.0					2																	179606109		1922	4142	6064	-	-	-	SO:0001583	missense	0			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.10900C>G	2.37:g.179606109G>C	ENSP00000465570:p.Gln3634Glu	Somatic		WXS	Illumina GAIIx	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_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,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.Q3780E	ENST00000591111.1	37	c.11338		2	.	.	.	.	.	.	.	.	.	.	G	5.422	0.263042	0.10294	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.35973	1.28;1.28;1.28	5.87	4.98	0.66077	.	.	.	.	.	T	0.19485	0.0468	N	0.01817	-0.705	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.28964	-1.0027	9	0.87932	D	0	.	16.2467	0.82448	0.0:0.2503:0.7497:0.0	.	3588;3713;3780	D3DPF9;E7EQE6;E7ET18	.;.;.	E	3588;3780;3713;3588	ENSP00000434586:Q3588E;ENSP00000340554:Q3780E;ENSP00000352154:Q3713E	ENSP00000340554:Q3780E	Q	-	1	0	TTN	179314354	0.595000	0.26857	0.007000	0.13788	0.296000	0.27459	3.587000	0.53957	1.587000	0.49959	0.655000	0.94253	CAA	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000155657		0.463	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	43	0.00	0	G	NM_133378		179606109	179606109	-1	no_errors	ENST00000342175	ensembl	human	known	69_37n	missense	47	33.80	24	SNP	0.123	C
TTN	7273	genome.wustl.edu	37	2	179612625	179612625	+	Intron	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:179612625G>C	ENST00000591111.1	-	45	10585				TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Silent_p.L4834L|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA			Q8WZ42	TITIN_HUMAN	titin						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)			CAGTCATCAAGAGTGGGAAGC	0.428																																						dbGAP											0													63.0	58.0	60.0					2																	179612625		2203	4299	6502	-	-	-	SO:0001627	intron_variant	0			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.10360+5225C>G	2.37:g.179612625G>C		Somatic		WXS	Illumina GAIIx	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	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L4834	ENST00000591111.1	37	c.14502		2																																																																																			TTN	-	NULL	ENSG00000155657		0.428	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	30	0.00	0	G	NM_133378		179612625	179612625	-1	no_errors	ENST00000360870	ensembl	human	known	69_37n	silent	23	23.33	7	SNP	0.003	C
TTN	7273	genome.wustl.edu	37	2	179614138	179614138	+	Intron	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:179614138C>G	ENST00000591111.1	-	45	10585				TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.R4330T|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA			Q8WZ42	TITIN_HUMAN	titin						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)			AATTTTTTCTCTAGAAGGTAT	0.403																																						dbGAP											0													85.0	91.0	89.0					2																	179614138		2202	4295	6497	-	-	-	SO:0001627	intron_variant	0			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.10360+3712G>C	2.37:g.179614138C>G		Somatic		WXS	Illumina GAIIx	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_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.R4330T	ENST00000591111.1	37	c.12989		2	.	.	.	.	.	.	.	.	.	.	C	16.27	3.075653	0.55646	.	.	ENSG00000155657	ENST00000360870	T	0.58797	0.31	6.17	4.15	0.48705	.	.	.	.	.	T	0.32793	0.0841	N	0.14661	0.345	0.80722	D	1	P	0.34724	0.465	B	0.34242	0.178	T	0.10042	-1.0647	9	0.10636	T	0.68	.	5.9859	0.19434	0.1909:0.6768:0.0:0.1323	.	4330	Q8WZ42-6	.	T	4330	ENSP00000354117:R4330T	ENSP00000354117:R4330T	R	-	2	0	TTN	179322383	0.249000	0.23941	0.981000	0.43875	0.623000	0.37688	0.168000	0.16622	1.600000	0.50102	0.655000	0.94253	AGA	TTN	-	NULL	ENSG00000155657		0.403	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	86	0.00	0	C	NM_133378		179614138	179614138	-1	no_errors	ENST00000360870	ensembl	human	known	69_37n	missense	90	21.05	24	SNP	0.927	G
TTN	7273	genome.wustl.edu	37	2	179640263	179640263	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:179640263C>G	ENST00000591111.1	-	28	6552	c.6328G>C	c.(6328-6330)Gaa>Caa	p.E2110Q	TTN_ENST00000342175.6_Missense_Mutation_p.E2064Q|TTN_ENST00000460472.2_Missense_Mutation_p.E2064Q|TTN_ENST00000359218.5_Missense_Mutation_p.E2064Q|TTN_ENST00000342992.6_Missense_Mutation_p.E2110Q|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000584485.1_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.E2110Q|TTN_ENST00000589042.1_Missense_Mutation_p.E2110Q|RP11-88L24.4_ENST00000582038.2_RNA			Q8WZ42	TITIN_HUMAN	titin	12798	Ig-like 10.				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)			TTGTACCATTCACATTCGGGG	0.483																																						dbGAP											0													78.0	83.0	82.0					2																	179640263		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.6328G>C	2.37:g.179640263C>G	ENSP00000465570:p.Glu2110Gln	Somatic		WXS	Illumina GAIIx	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.E2110Q	ENST00000591111.1	37	c.6328		2	.	.	.	.	.	.	.	.	.	.	C	11.83	1.756714	0.31137	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31	5.33	5.33	0.75918	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.41581	0.1165	N	0.01482	-0.84	0.30612	N	0.759436	B;B;B;B;B	0.32324	0.007;0.007;0.007;0.007;0.364	B;B;B;B;B	0.30855	0.012;0.012;0.012;0.012;0.121	T	0.52518	-0.8565	9	0.87932	D	0	.	13.6735	0.62440	0.0:0.7173:0.2827:0.0	.	2064;2064;2064;2110;2110	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	Q	2110;2064;2064;2064;2064;2110	ENSP00000343764:E2110Q;ENSP00000434586:E2064Q;ENSP00000340554:E2064Q;ENSP00000352154:E2064Q;ENSP00000354117:E2110Q	ENSP00000340554:E2064Q	E	-	1	0	TTN	179348508	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.038000	0.76537	2.503000	0.84419	0.655000	0.94253	GAA	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like	ENSG00000155657		0.483	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	74	0.00	0	C	NM_133378		179640263	179640263	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	73	23.16	22	SNP	1.000	G
TTN	7273	genome.wustl.edu	37	2	179641400	179641400	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:179641400C>T	ENST00000591111.1	-	28	5415	c.5191G>A	c.(5191-5193)Gac>Aac	p.D1731N	TTN_ENST00000342175.6_Missense_Mutation_p.D1685N|TTN_ENST00000460472.2_Missense_Mutation_p.D1685N|TTN_ENST00000359218.5_Missense_Mutation_p.D1685N|TTN_ENST00000342992.6_Missense_Mutation_p.D1731N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000584485.1_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.D1731N|TTN_ENST00000589042.1_Missense_Mutation_p.D1731N|RP11-88L24.4_ENST00000582038.2_RNA			Q8WZ42	TITIN_HUMAN	titin	12566	Ig-like 8.				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)			ATCGTTGGGTCACCAATGGGT	0.463																																						dbGAP											0													74.0	67.0	69.0					2																	179641400		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.5191G>A	2.37:g.179641400C>T	ENSP00000465570:p.Asp1731Asn	Somatic		WXS	Illumina GAIIx	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.D1731N	ENST00000591111.1	37	c.5191		2	.	.	.	.	.	.	.	.	.	.	C	13.76	2.333380	0.41297	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23	5.05	5.05	0.67936	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.82692	0.5092	M	0.77486	2.375	0.40140	D	0.97682	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;0.999;0.999;1.0	D	0.85754	0.1345	9	0.87932	D	0	.	18.3911	0.90484	0.0:1.0:0.0:0.0	.	1685;1685;1685;1731;1731	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	N	1731;1685;1685;1685;1685;1731	ENSP00000343764:D1731N;ENSP00000434586:D1685N;ENSP00000340554:D1685N;ENSP00000352154:D1685N;ENSP00000354117:D1731N	ENSP00000340554:D1685N	D	-	1	0	TTN	179349645	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.688000	0.84153	2.363000	0.80096	0.561000	0.74099	GAC	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like	ENSG00000155657		0.463	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	69	0.00	0	C	NM_133378		179641400	179641400	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	65	18.75	15	SNP	1.000	T
TTPA	7274	genome.wustl.edu	37	8	63973898	63973898	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:63973898G>C	ENST00000260116.4	-	5	781	c.750C>G	c.(748-750)ttC>ttG	p.F250L	TTPA_ENST00000521138.1_Intron	NM_000370.3	NP_000361.1	P49638	TTPA_HUMAN	tocopherol (alpha) transfer protein	250	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				embryonic placenta development (GO:0001892)|intermembrane transport (GO:0046909)|intracellular pH reduction (GO:0051452)|lipid metabolic process (GO:0006629)|negative regulation of cell death (GO:0060548)|negative regulation of establishment of blood-brain barrier (GO:0090212)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|response to toxic substance (GO:0009636)|transport (GO:0006810)|vitamin E metabolic process (GO:0042360)|vitamin transport (GO:0051180)	cytosol (GO:0005829)|late endosome (GO:0005770)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)	15	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)			Vitamin E(DB00163)	CCTCCATGGAGAATTCTTCAC	0.383																																						dbGAP											0													94.0	94.0	94.0					8																	63973898		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC058000	CCDS6178.1	8q12.3	2007-07-18	2007-07-16			ENSG00000137561			12404	protein-coding gene	gene with protein product		600415	"""ataxia (Friedreich-like) with vitamin E deficiency"""	AVED		7719340, 7887897	Standard	NM_000370		Approved		uc003xux.2	P49638		ENST00000260116.4:c.750C>G	8.37:g.63973898G>C	ENSP00000260116:p.Phe250Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q71V64	Missense_Mutation	SNP	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran	p.F250L	ENST00000260116.4	37	c.750	CCDS6178.1	8	.	.	.	.	.	.	.	.	.	.	G	7.925	0.739476	0.15642	.	.	ENSG00000137561	ENST00000260116	D	0.83992	-1.79	5.86	2.02	0.26589	Cellular retinaldehyde-binding/triple function, C-terminal (4);	0.373025	0.34507	N	0.003919	T	0.56247	0.1972	N	0.03608	-0.345	0.21290	N	0.999735	B	0.12630	0.006	B	0.08055	0.003	T	0.42292	-0.9460	10	0.10377	T	0.69	.	5.9839	0.19423	0.3284:0.0:0.551:0.1206	.	250	P49638	TTPA_HUMAN	L	250	ENSP00000260116:F250L	ENSP00000260116:F250L	F	-	3	2	TTPA	64136452	0.995000	0.38212	0.979000	0.43373	0.999000	0.98932	0.367000	0.20382	0.473000	0.27368	0.650000	0.86243	TTC	TTPA	-	superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	ENSG00000137561		0.383	TTPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTPA	HGNC	protein_coding	OTTHUMT00000378460.1	100	0.00	0	G	NM_000370		63973898	63973898	-1	no_errors	ENST00000260116	ensembl	human	known	69_37n	missense	83	23.85	26	SNP	0.276	C
TTYH2	94015	genome.wustl.edu	37	17	72218677	72218677	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:72218677C>G	ENST00000269346.4	+	2	257	c.183C>G	c.(181-183)atC>atG	p.I61M	TTYH2_ENST00000529107.1_Missense_Mutation_p.I40M	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	61						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						TGAACCTCATCTTCCTTGTGG	0.637																																						dbGAP											0													107.0	89.0	95.0					17																	72218677		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS32717.1, CCDS45770.1	17q25.1	2013-09-02	2013-09-02		ENSG00000141540	ENSG00000141540			13877	protein-coding gene	gene with protein product		608855	"""tweety (Drosophila) homolog 2"", ""tweety homolog 2 (Drosophila)"""			11597145	Standard	XM_005257824		Approved	C17orf29	uc002jkc.3	Q9BSA4	OTTHUMG00000166018	ENST00000269346.4:c.183C>G	17.37:g.72218677C>G	ENSP00000269346:p.Ile61Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KX97|Q3B7H8|Q3B7R9|Q6AWB4|Q8NBB7|Q96PK1	Missense_Mutation	SNP	pfam_Tweety	p.I61M	ENST00000269346.4	37	c.183	CCDS32717.1	17	.	.	.	.	.	.	.	.	.	.	C	12.79	2.042866	0.36085	.	.	ENSG00000141540	ENST00000269346;ENST00000529107	T;T	0.12879	2.64;2.64	5.47	3.46	0.39613	.	0.849768	0.10640	N	0.651143	T	0.28830	0.0715	M	0.75264	2.295	0.80722	D	1	P;P	0.51653	0.947;0.924	P;P	0.55345	0.621;0.774	T	0.04216	-1.0968	10	0.72032	D	0.01	-3.6792	7.3859	0.26882	0.0:0.7096:0.1364:0.154	.	40;61	B4DKD1;Q9BSA4	.;TTYH2_HUMAN	M	61;40	ENSP00000269346:I61M;ENSP00000433089:I40M	ENSP00000269346:I61M	I	+	3	3	TTYH2	69730272	0.979000	0.34478	0.499000	0.27577	0.081000	0.17604	0.514000	0.22786	1.297000	0.44761	0.655000	0.94253	ATC	TTYH2	-	pfam_Tweety	ENSG00000141540		0.637	TTYH2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TTYH2	HGNC	protein_coding	OTTHUMT00000387459.1	88	0.00	0	C			72218677	72218677	+1	no_errors	ENST00000269346	ensembl	human	known	69_37n	missense	97	26.52	35	SNP	0.962	G
TTYH2	94015	genome.wustl.edu	37	17	72248379	72248379	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:72248379C>T	ENST00000269346.4	+	11	1197	c.1123C>T	c.(1123-1125)Ctg>Ttg	p.L375L	TTYH2_ENST00000529107.1_Silent_p.L354L|TTYH2_ENST00000441391.2_Silent_p.L54L	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	375						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						CCAGGATTATCTGGACGCTCT	0.627																																						dbGAP											0													129.0	117.0	121.0					17																	72248379		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS32717.1, CCDS45770.1	17q25.1	2013-09-02	2013-09-02		ENSG00000141540	ENSG00000141540			13877	protein-coding gene	gene with protein product		608855	"""tweety (Drosophila) homolog 2"", ""tweety homolog 2 (Drosophila)"""			11597145	Standard	XM_005257824		Approved	C17orf29	uc002jkc.3	Q9BSA4	OTTHUMG00000166018	ENST00000269346.4:c.1123C>T	17.37:g.72248379C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KX97|Q3B7H8|Q3B7R9|Q6AWB4|Q8NBB7|Q96PK1	Silent	SNP	pfam_Tweety	p.L375	ENST00000269346.4	37	c.1123	CCDS32717.1	17																																																																																			TTYH2	-	pfam_Tweety	ENSG00000141540		0.627	TTYH2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TTYH2	HGNC	protein_coding	OTTHUMT00000387459.1	82	0.00	0	C			72248379	72248379	+1	no_errors	ENST00000269346	ensembl	human	known	69_37n	silent	136	16.56	27	SNP	1.000	T
TUB	7275	genome.wustl.edu	37	11	8122480	8122480	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:8122480C>G	ENST00000299506.2	+	11	1472	c.1323C>G	c.(1321-1323)ctC>ctG	p.L441L	TUB_ENST00000534099.1_Silent_p.L447L|TUB_ENST00000305253.4_Silent_p.L496L	NM_177972.2	NP_813977.1	P50607	TUB_HUMAN	tubby bipartite transcription factor	441					multicellular organismal macromolecule metabolic process (GO:0044259)|phagocytosis (GO:0006909)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|response to hormone (GO:0009725)|retina development in camera-type eye (GO:0060041)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled photoreceptor activity (GO:0008020)|protein complex binding (GO:0032403)			breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		CCTATGTACTCAACTTCCATG	0.498																																						dbGAP											0													190.0	159.0	170.0					11																	8122480		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			U54644	CCDS7786.1, CCDS7787.1	11p15.5	2013-08-06	2013-08-06		ENSG00000166402	ENSG00000166402			12406	protein-coding gene	gene with protein product		601197	"""tubby (mouse) homolog"", ""tubby homolog (mouse)"""			8612280	Standard	NM_003320		Approved	rd5	uc001mfy.3	P50607	OTTHUMG00000165690	ENST00000299506.2:c.1323C>G	11.37:g.8122480C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DQU4|O00293|Q6B007	Silent	SNP	pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_N,prints_Tubby_C	p.L496	ENST00000299506.2	37	c.1488	CCDS7787.1	11																																																																																			TUB	-	pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C	ENSG00000166402		0.498	TUB-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	TUB	HGNC	protein_coding	OTTHUMT00000385823.1	84	0.00	0	C	NM_003320		8122480	8122480	+1	no_errors	ENST00000305253	ensembl	human	known	69_37n	silent	125	16.67	25	SNP	1.000	G
TUBA1A	7846	genome.wustl.edu	37	12	49580464	49580464	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:49580464G>C	ENST00000295766.5	-	2	635	c.156C>G	c.(154-156)ttC>ttG	p.F52L	TUBA1A_ENST00000550767.1_Missense_Mutation_p.F17L|TUBA1A_ENST00000301071.7_Missense_Mutation_p.F52L|TUBA1A_ENST00000546918.1_Missense_Mutation_p.F52L	NM_001270399.1	NP_001257328.1	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	52					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cytoskeleton-dependent intracellular transport (GO:0030705)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			stomach(1)|upper_aerodigestive_tract(1)	2					Albendazole(DB00518)|Mebendazole(DB00643)|Vinblastine(DB00570)	TCTCACTGAAGAAGGTGTTGA	0.557																																					Pancreas(111;782 2307 24613 44561)|NSCLC(165;1667 2752 9496 39006)|Ovarian(19;24 776 10875 37451)	dbGAP											0													163.0	146.0	152.0					12																	49580464		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF141347	CCDS8781.1, CCDS58226.1, CCDS58227.1	12q13.12	2007-02-07						"""Tubulins"""	20766	protein-coding gene	gene with protein product	"""tubulin, alpha, brain-specific"""	602529				11504633, 3839072	Standard	NM_006009		Approved	TUBA3, B-ALPHA-1, FLJ25113	uc010smg.1	Q71U36	OTTHUMG00000169511	ENST00000295766.5:c.156C>G	12.37:g.49580464G>C	ENSP00000439020:p.Phe52Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0B8|G3V1U9|P04687|P05209	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.F52L	ENST00000295766.5	37	c.156	CCDS58227.1	12	.	.	.	.	.	.	.	.	.	.	G	16.78	3.218307	0.58560	.	.	ENSG00000167552	ENST00000301071;ENST00000552597;ENST00000552250;ENST00000295766;ENST00000550767;ENST00000547939;ENST00000546918;ENST00000552924;ENST00000550811	T;T;T;T;T;T;D	0.92048	-0.77;-0.77;-0.77;-0.77;-0.77;-0.77;-2.96	5.29	5.29	0.74685	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.85682	D	0.000000	D	0.95784	0.8628	H	0.95043	3.615	0.51012	D	0.999905	B	0.27594	0.182	B	0.42798	0.398	D	0.95369	0.8462	10	0.87932	D	0	.	11.5846	0.50910	0.0835:0.0:0.9165:0.0	.	52	Q71U36	TBA1A_HUMAN	L	52;52;52;52;17;17;52;17;17	ENSP00000301071:F52L;ENSP00000439020:F52L;ENSP00000446637:F17L;ENSP00000450268:F17L;ENSP00000446613:F52L;ENSP00000448725:F17L;ENSP00000449016:F17L	ENSP00000439020:F52L	F	-	3	2	TUBA1A	47866731	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.846000	0.62860	2.639000	0.89480	0.655000	0.94253	TTC	TUBA1A	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Alpha_tubulin	ENSG00000167552		0.557	TUBA1A-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	TUBA1A	HGNC	protein_coding	OTTHUMT00000404547.2	126	0.00	0	G	NM_006009		49580464	49580464	-1	no_errors	ENST00000301071	ensembl	human	known	69_37n	missense	128	19.50	31	SNP	1.000	C
TUBA1C	84790	genome.wustl.edu	37	12	49666927	49666927	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:49666927G>A	ENST00000301072.6	+	4	1542	c.1267G>A	c.(1267-1269)Gag>Aag	p.E423K	TUBA1C_ENST00000541364.1_Missense_Mutation_p.E493K|RP11-161H23.5_ENST00000550468.2_RNA	NM_032704.3	NP_116093.1	Q9BQE3	TBA1C_HUMAN	tubulin, alpha 1c	423					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)	13						AGAGGCCCGTGAGGACATGGC	0.527																																						dbGAP											0													138.0	131.0	133.0					12																	49666927		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC004949	CCDS8782.1	12q13.12	2007-03-16	2007-02-12	2007-02-12		ENSG00000167553		"""Tubulins"""	20768	protein-coding gene	gene with protein product			"""tubulin, alpha 6"""	TUBA6		7821789	Standard	NM_032704		Approved	MGC14580, MGC10851, bcm948	uc001rtt.1	Q9BQE3		ENST00000301072.6:c.1267G>A	12.37:g.49666927G>A	ENSP00000301072:p.Glu423Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Beta_tubulin,prints_Delta_tubulin	p.E423K	ENST00000301072.6	37	c.1267	CCDS8782.1	12	.	.	.	.	.	.	.	.	.	.	G	19.20	3.781180	0.70222	.	.	ENSG00000167553	ENST00000541364;ENST00000301072	D;D	0.85773	-2.03;-2.03	4.89	4.89	0.63831	Tubulin, C-terminal (1);Tubulin/FtsZ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.93048	0.7787	M	0.85542	2.76	0.80722	D	1	B;D	0.61697	0.155;0.99	B;D	0.76575	0.338;0.988	D	0.93918	0.7203	10	0.87932	D	0	.	17.7706	0.88491	0.0:0.0:1.0:0.0	.	493;423	F5H5D3;Q9BQE3	.;TBA1C_HUMAN	K	493;423	ENSP00000443475:E493K;ENSP00000301072:E423K	ENSP00000301072:E423K	E	+	1	0	TUBA1C	47953194	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.669000	0.98622	2.666000	0.90696	0.556000	0.70494	GAG	TUBA1C	-	superfamily_Tub_FtsZ_C,prints_Alpha_tubulin	ENSG00000167553		0.527	TUBA1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBA1C	HGNC	protein_coding	OTTHUMT00000404424.1	137	0.00	0	G	NM_032704		49666927	49666927	+1	no_errors	ENST00000301072	ensembl	human	known	69_37n	missense	158	21.00	42	SNP	1.000	A
TUBGCP5	114791	genome.wustl.edu	37	15	22861855	22861855	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:22861855G>C	ENST00000283645.4	+	14	2005	c.1875G>C	c.(1873-1875)ctG>ctC	p.L625L	TUBGCP5_ENST00000559846.1_3'UTR|TUBGCP5_ENST00000453949.2_Silent_p.L625L	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	625					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		AGGAGAACCTGATGAAGATGC	0.463																																						dbGAP											0													151.0	129.0	137.0					15																	22861855		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB067486	CCDS73697.1, CCDS73698.1	15q11.1	2014-04-17			ENSG00000153575	ENSG00000275835			18600	protein-coding gene	gene with protein product	"""gamma-tubulin complex component GCP5"""	608147				11694571	Standard	NM_052903		Approved	GCP5, KIAA1899	uc001yur.4	Q96RT8	OTTHUMG00000188371	ENST00000283645.4:c.1875G>C	15.37:g.22861855G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	E9PB12|Q6IQ52|Q96PY8	Silent	SNP	pfam_Spc97_Spc98	p.L625	ENST00000283645.4	37	c.1875	CCDS10008.1	15																																																																																			TUBGCP5	-	pfam_Spc97_Spc98	ENSG00000153575		0.463	TUBGCP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP5	HGNC	protein_coding	OTTHUMT00000250998.2	51	0.00	0	G	NM_052903		22861855	22861855	+1	no_errors	ENST00000283645	ensembl	human	known	69_37n	silent	42	10.64	5	SNP	0.000	C
TUBGCP4	27229	genome.wustl.edu	37	15	43668352	43668352	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:43668352C>G	ENST00000260383.7	+	2	389	c.135C>G	c.(133-135)ctC>ctG	p.L45L	TUBGCP4_ENST00000564079.1_Silent_p.L45L|TUBGCP4_ENST00000570081.1_3'UTR|TUBGCP4_ENST00000399460.3_5'Flank			Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	45					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|spindle pole (GO:0000922)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		TGAATCGACTCTGCCGGCTCG	0.562											OREG0023088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													117.0	122.0	120.0					15																	43668352		2003	4174	6177	-	-	-	SO:0001819	synonymous_variant	0			AJ249677	CCDS42030.1, CCDS66745.1	15q15.3	2014-08-12			ENSG00000137822	ENSG00000137822			16691	protein-coding gene	gene with protein product		609610				10562286	Standard	NM_001286414		Approved	76P, FLJ14797	uc001zrn.3	Q9UGJ1	OTTHUMG00000176647	ENST00000260383.7:c.135C>G	15.37:g.43668352C>G		Somatic	918	WXS	Illumina GAIIx	Phase_IV	B3KNK6|Q969X3|Q9NVF0	Silent	SNP	pfam_Spc97_Spc98	p.L45	ENST00000260383.7	37	c.135		15																																																																																			TUBGCP4	-	pfam_Spc97_Spc98	ENSG00000137822		0.562	TUBGCP4-001	KNOWN	basic|appris_candidate_longest	protein_coding	TUBGCP4	HGNC	protein_coding	OTTHUMT00000432970.1	75	0.00	0	C	NM_014444		43668352	43668352	+1	no_errors	ENST00000260383	ensembl	human	known	69_37n	silent	70	25.53	24	SNP	1.000	G
TUFM	7284	genome.wustl.edu	37	16	28854406	28854406	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:28854406C>G	ENST00000313511.3	-	10	1396	c.1258G>C	c.(1258-1260)Gag>Cag	p.E420Q	MIR4721_ENST00000577590.1_RNA	NM_003321.4	NP_003312.3	P49411	EFTU_HUMAN	Tu translation elongation factor, mitochondrial	417					translational elongation (GO:0006414)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation elongation factor activity (GO:0003746)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13						TGGCCTTTCTCTAAGATCATT	0.542																																						dbGAP											0													108.0	95.0	99.0					16																	28854406		2197	4300	6497	-	-	-	SO:0001583	missense	0			L38995	CCDS10642.1	16p11.2	2010-10-26			ENSG00000178952	ENSG00000178952			12420	protein-coding gene	gene with protein product		602389				9332382, 9545647	Standard	NM_003321		Approved	EFTu, EF-TuMT, EFTU	uc002drh.2	P49411	OTTHUMG00000097039	ENST00000313511.3:c.1258G>C	16.37:g.28854406C>G	ENSP00000322439:p.Glu420Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O15276	Missense_Mutation	SNP	pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_ProtSyn_GTP-bd,tigrfam_Transl_elong_EFTu/EF1A_bac/org	p.E420Q	ENST00000313511.3	37	c.1258	CCDS10642.1	16	.	.	.	.	.	.	.	.	.	.	C	27.0	4.794283	0.90453	.	.	ENSG00000178952	ENST00000313511	T	0.74632	-0.86	4.71	4.71	0.59529	Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal (1);Translation elongation factor EFTu/EF1A, C-terminal (1);	0.192150	0.44483	D	0.000456	D	0.85522	0.5716	M	0.79805	2.47	0.80722	D	1	D	0.67145	0.996	D	0.63488	0.915	D	0.87366	0.2347	10	0.56958	D	0.05	-25.1436	16.8158	0.85733	0.0:1.0:0.0:0.0	.	417	P49411	EFTU_HUMAN	Q	420	ENSP00000322439:E420Q	ENSP00000322439:E420Q	E	-	1	0	TUFM	28761907	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.643000	0.74334	2.332000	0.79248	0.655000	0.94253	GAG	TUFM	-	pfam_Transl_elong_EFTu/EF1A_C,superfamily_Transl_elong_EF1A/Init_IF2_C,tigrfam_Transl_elong_EFTu/EF1A_bac/org	ENSG00000178952		0.542	TUFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUFM	HGNC	protein_coding	OTTHUMT00000214140.1	64	0.00	0	C	NM_003321		28854406	28854406	-1	no_errors	ENST00000313511	ensembl	human	known	69_37n	missense	53	15.87	10	SNP	1.000	G
SH2B1	25970	genome.wustl.edu	37	16	28857237	28857237	+	5'Flank	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:28857237C>T	ENST00000322610.8	+	0	0				MIR4721_ENST00000577590.1_RNA|TUFM_ENST00000313511.3_Silent_p.T81T			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1						blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						ACTCACTCTTCGTGATGGCTG	0.597																																						dbGAP											0													78.0	64.0	69.0					16																	28857237		2197	4300	6497	-	-	-	SO:0001631	upstream_gene_variant	0			AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	30417	protein-coding gene	gene with protein product	"""SH2-B homolog"""	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2			16.37:g.28857237C>T	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Silent	SNP	pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_ProtSyn_GTP-bd,tigrfam_Transl_elong_EFTu/EF1A_bac/org	p.T81	ENST00000322610.8	37	c.243	CCDS53996.1	16																																																																																			TUFM	-	pfam_ProtSyn_GTP-bd,tigrfam_Transl_elong_EFTu/EF1A_bac/org	ENSG00000178952		0.597	SH2B1-001	KNOWN	basic|CCDS	protein_coding	TUFM	HGNC	protein_coding	OTTHUMT00000432666.1	30	0.00	0	C	NM_015503		28857237	28857237	-1	no_errors	ENST00000313511	ensembl	human	known	69_37n	silent	38	22.45	11	SNP	0.696	T
TULP2	7288	genome.wustl.edu	37	19	49391496	49391496	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:49391496C>G	ENST00000221399.3	-	8	803	c.659G>C	c.(658-660)aGa>aCa	p.R220T		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	220					visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	protein complex binding (GO:0032403)			NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		AGAGGCCTCTCTCTTCTTTTC	0.547																																						dbGAP											0													68.0	54.0	58.0					19																	49391496		2203	4300	6503	-	-	-	SO:0001583	missense	0			U82469	CCDS12739.1	19q13.1	2009-08-06			ENSG00000104804	ENSG00000104804			12424	protein-coding gene	gene with protein product	"""cancer/testis antigen 65"""	602309				9096357	Standard	NM_003323		Approved	TUBL2, CT65	uc002pkz.2	O00295	OTTHUMG00000164406	ENST00000221399.3:c.659G>C	19.37:g.49391496C>G	ENSP00000221399:p.Arg220Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TC50	Missense_Mutation	SNP	pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C,prints_Tubby_N	p.R220T	ENST00000221399.3	37	c.659	CCDS12739.1	19	.	.	.	.	.	.	.	.	.	.	C	8.864	0.947543	0.18356	.	.	ENSG00000104804	ENST00000221399;ENST00000518572	D;T	0.83163	-1.69;2.23	3.23	1.01	0.19927	.	3.493840	0.00868	N	0.001981	T	0.65015	0.2651	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.54384	-0.8302	10	0.14252	T	0.57	0.019	3.1043	0.06336	0.0:0.1444:0.2505:0.605	.	220	O00295	TULP2_HUMAN	T	220;174	ENSP00000221399:R220T;ENSP00000428420:R174T	ENSP00000221399:R220T	R	-	2	0	TULP2	54083308	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.251000	0.08818	0.149000	0.19098	-0.484000	0.04775	AGA	TULP2	-	NULL	ENSG00000104804		0.547	TULP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TULP2	HGNC	protein_coding	OTTHUMT00000378633.1	28	0.00	0	C	NM_003323		49391496	49391496	-1	no_errors	ENST00000221399	ensembl	human	known	69_37n	missense	27	27.03	10	SNP	0.000	G
TUSC2	11334	genome.wustl.edu	37	3	50363862	50363862	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:50363862C>A	ENST00000232496.4	-	2	336	c.193G>T	c.(193-195)Gag>Tag	p.E65*	TUSC2_ENST00000462137.1_5'UTR	NM_007275.1	NP_009206.1	O75896	TUSC2_HUMAN	tumor suppressor candidate 2	65					cell cycle (GO:0007049)|cell maturation (GO:0048469)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|chemokine (C-C motif) ligand 5 production (GO:0071609)|inflammatory response (GO:0006954)|interleukin-15 production (GO:0032618)|natural killer cell differentiation (GO:0001779)|negative regulation of interleukin-17 production (GO:0032700)|neutrophil mediated killing of gram-negative bacterium (GO:0070945)|phagocytosis (GO:0006909)|positive regulation of interleukin-10 production (GO:0032733)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to defense-related host reactive oxygen species production (GO:0052567)	mitochondrion (GO:0005739)				lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		ATTGTCTCCTCATAGAACTCG	0.567																																						dbGAP											0													69.0	63.0	65.0					3																	50363862		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF055479	CCDS2819.1	3p21.3	2010-09-21	2004-01-20	2004-01-21	ENSG00000114383	ENSG00000114383			17034	protein-coding gene	gene with protein product		607052	"""PDGFA associated protein 2"""	PDAP2		8780057, 11593436	Standard	NM_007275		Approved	FUS1, PAP, C3orf11	uc003czy.1	O75896	OTTHUMG00000156877	ENST00000232496.4:c.193G>T	3.37:g.50363862C>A	ENSP00000232496:p.Glu65*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R4Y9	Nonsense_Mutation	SNP	NULL	p.E65*	ENST00000232496.4	37	c.193	CCDS2819.1	3	.	.	.	.	.	.	.	.	.	.	C	23.3	4.396839	0.83120	.	.	ENSG00000114383	ENST00000232496	.	.	.	5.93	5.04	0.67666	.	0.098319	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-29.5344	14.0423	0.64684	0.1521:0.8478:0.0:0.0	.	.	.	.	X	65	.	ENSP00000232496:E65X	E	-	1	0	TUSC2	50338866	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	7.659000	0.83766	1.473000	0.48159	0.655000	0.94253	GAG	TUSC2	-	NULL	ENSG00000114383		0.567	TUSC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUSC2	HGNC	protein_coding	OTTHUMT00000346399.1	35	0.00	0	C	NM_007275		50363862	50363862	-1	no_errors	ENST00000232496	ensembl	human	known	69_37n	nonsense	52	14.75	9	SNP	1.000	A
TWISTNB	221830	genome.wustl.edu	37	7	19738341	19738341	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:19738341G>C	ENST00000222567.5	-	4	685	c.615C>G	c.(613-615)ttC>ttG	p.F205L		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	205					transcription from RNA polymerase I promoter (GO:0006360)	DNA-directed RNA polymerase I complex (GO:0005736)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						CAGAGCGCTTGAATTGTAAAC	0.313																																						dbGAP											0													43.0	50.0	48.0					7																	19738341		2193	4273	6466	-	-	-	SO:0001583	missense	0			AK090846	CCDS34606.1	7p21.1	2010-08-05			ENSG00000105849	ENSG00000105849			18027	protein-coding gene	gene with protein product		608312				12438708	Standard	NM_001002926		Approved		uc003sup.1	Q3B726	OTTHUMG00000152497	ENST00000222567.5:c.615C>G	7.37:g.19738341G>C	ENSP00000222567:p.Phe205Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJ45|B7Z724	Missense_Mutation	SNP	pfam_RNA_pol_Rpb7_N	p.F205L	ENST00000222567.5	37	c.615	CCDS34606.1	7	.	.	.	.	.	.	.	.	.	.	G	1.064	-0.671996	0.03403	.	.	ENSG00000105849	ENST00000222567	.	.	.	4.96	2.13	0.27403	.	2.010870	0.01734	N	0.029010	T	0.14227	0.0344	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33007	-0.9885	9	0.06757	T	0.87	2.5514	8.3302	0.32182	0.3416:0.0:0.6584:0.0	.	205	Q3B726	RPA43_HUMAN	L	205	.	ENSP00000222567:F205L	F	-	3	2	TWISTNB	19704866	0.918000	0.31147	0.086000	0.20670	0.507000	0.33981	0.755000	0.26405	0.330000	0.23485	-0.391000	0.06502	TTC	TWISTNB	-	NULL	ENSG00000105849		0.313	TWISTNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TWISTNB	HGNC	protein_coding	OTTHUMT00000326463.1	35	0.00	0	G			19738341	19738341	-1	no_errors	ENST00000222567	ensembl	human	known	69_37n	missense	26	27.78	10	SNP	0.112	C
TXNDC15	79770	genome.wustl.edu	37	5	134229287	134229287	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:134229287C>T	ENST00000358387.4	+	3	1322	c.697C>T	c.(697-699)Ctg>Ttg	p.L233L	TXNDC15_ENST00000546290.1_Silent_p.L210L	NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	thioredoxin domain containing 15	233	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTTTAACTCTCTGCCCCGGGC	0.512																																						dbGAP											0													156.0	153.0	154.0					5																	134229287		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK026278	CCDS4180.1	5q31.1	2008-02-05	2007-08-16	2007-08-16	ENSG00000113621	ENSG00000113621			20652	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 14"""	C5orf14			Standard	NM_024715		Approved	2310047H23Rik, FLJ22625	uc003lac.1	Q96J42	OTTHUMG00000129115	ENST00000358387.4:c.697C>T	5.37:g.134229287C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DQA9|Q96MT2|Q9H639	Silent	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.L233	ENST00000358387.4	37	c.697	CCDS4180.1	5																																																																																			TXNDC15	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	ENSG00000113621		0.512	TXNDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNDC15	HGNC	protein_coding	OTTHUMT00000251160.1	145	0.00	0	C	NM_024715		134229287	134229287	+1	no_errors	ENST00000358387	ensembl	human	known	69_37n	silent	114	19.01	27	SNP	1.000	T
TXNDC16	57544	genome.wustl.edu	37	14	52936807	52936807	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:52936807G>C	ENST00000281741.4	-	16	1937	c.1566C>G	c.(1564-1566)atC>atG	p.I522M	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	522					cell redox homeostasis (GO:0045454)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					TAGAATACAAGATGAGGTCTT	0.338																																						dbGAP											0													89.0	92.0	91.0					14																	52936807		2203	4295	6498	-	-	-	SO:0001583	missense	0			AB037765	CCDS32083.1	14q22.1	2007-08-16	2007-08-16	2007-08-16		ENSG00000087301			19965	protein-coding gene	gene with protein product			"""KIAA1344"""	KIAA1344			Standard	NM_020784		Approved		uc001wzs.3	Q9P2K2		ENST00000281741.4:c.1566C>G	14.37:g.52936807G>C	ENSP00000281741:p.Ile522Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	Missense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.I522M	ENST00000281741.4	37	c.1566	CCDS32083.1	14	.	.	.	.	.	.	.	.	.	.	G	9.097	1.003262	0.19121	.	.	ENSG00000087301	ENST00000281741	T	0.18016	2.24	5.2	-2.72	0.05968	.	0.977677	0.08413	N	0.949542	T	0.06735	0.0172	N	0.22421	0.69	0.09310	N	1	B;P	0.37276	0.396;0.589	B;B	0.30179	0.075;0.112	T	0.29882	-0.9997	10	0.24483	T	0.36	-43.5649	0.1751	0.00117	0.2641:0.2315:0.2593:0.245	.	517;522	B7ZME4;Q9P2K2	.;TXD16_HUMAN	M	522	ENSP00000281741:I522M	ENSP00000281741:I522M	I	-	3	3	TXNDC16	52006557	0.000000	0.05858	0.000000	0.03702	0.758000	0.43043	-0.690000	0.05138	-0.207000	0.10187	0.557000	0.71058	ATC	TXNDC16	-	superfamily_Thioredoxin-like_fold	ENSG00000087301		0.338	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNDC16	HGNC	protein_coding	OTTHUMT00000411681.1	111	0.00	0	G	XM_051699		52936807	52936807	-1	no_errors	ENST00000281741	ensembl	human	known	69_37n	missense	76	20.83	20	SNP	0.002	C
TXNIP	10628	genome.wustl.edu	37	1	145438808	145438808	+	Silent	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:145438808G>T	ENST00000369317.4	+	1	340	c.6G>T	c.(4-6)gtG>gtT	p.V2V	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	2					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCATCATGGTGATGTTCAAGA	0.438																																						dbGAP											0													81.0	80.0	80.0					1																	145438808		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"""upregulated by 1,25-dihydroxyvitamin D-3"", ""thioredoxin binding protein 2"""	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.6G>T	1.37:g.145438808G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E3D3|Q16226|Q6PML0|Q9BXG9	Silent	SNP	pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set	p.V2	ENST00000369317.4	37	c.6	CCDS913.1	1																																																																																			TXNIP	-	NULL	ENSG00000117289		0.438	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNIP	HGNC	protein_coding	OTTHUMT00000038547.1	59	0.00	0	G	NM_006472		145438808	145438808	+1	no_errors	ENST00000369317	ensembl	human	known	69_37n	silent	73	21.51	20	SNP	1.000	T
TYK2	7297	genome.wustl.edu	37	19	10463645	10463645	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:10463645C>T	ENST00000525621.1	-	22	3638	c.3157G>A	c.(3157-3159)Gag>Aag	p.E1053K	TYK2_ENST00000264818.6_Missense_Mutation_p.E1053K|TYK2_ENST00000529422.1_Intron|TYK2_ENST00000524462.1_Missense_Mutation_p.E868K	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	1053	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CGGTAGTACTCGTGGCCTTCG	0.657																																						dbGAP											0													83.0	69.0	74.0					19																	10463645		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.3157G>A	19.37:g.10463645C>T	ENSP00000431885:p.Glu1053Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6QB10|Q96CH0	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_TYK2_N	p.E1053K	ENST00000525621.1	37	c.3157	CCDS12236.1	19	.	.	.	.	.	.	.	.	.	.	C	20.6	4.022391	0.75275	.	.	ENSG00000105397	ENST00000524462;ENST00000525621;ENST00000264818;ENST00000543792;ENST00000529739	D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69	5.54	5.54	0.83059	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.376195	0.21303	N	0.076761	T	0.76997	0.4066	L	0.37897	1.145	0.39322	D	0.96526	P	0.44946	0.846	B	0.37833	0.259	T	0.81393	-0.0953	10	0.62326	D	0.03	-23.5281	17.0338	0.86468	0.0:1.0:0.0:0.0	.	1053	P29597	TYK2_HUMAN	K	868;1053;1053;800;76	ENSP00000433203:E868K;ENSP00000431885:E1053K;ENSP00000264818:E1053K;ENSP00000436155:E76K	ENSP00000264818:E1053K	E	-	1	0	TYK2	10324645	0.953000	0.32496	1.000000	0.80357	0.993000	0.82548	3.814000	0.55643	2.636000	0.89361	0.555000	0.69702	GAG	TYK2	-	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,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_cat_dom	ENSG00000105397		0.657	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYK2	HGNC	protein_coding	OTTHUMT00000389443.1	30	0.00	0	C			10463645	10463645	-1	no_errors	ENST00000264818	ensembl	human	known	69_37n	missense	29	25.64	10	SNP	0.991	T
TYK2	7297	genome.wustl.edu	37	19	10468728	10468728	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:10468728G>A	ENST00000525621.1	-	16	2743	c.2262C>T	c.(2260-2262)ttC>ttT	p.F754F	TYK2_ENST00000529370.1_Silent_p.F754F|TYK2_ENST00000264818.6_Silent_p.F754F|TYK2_ENST00000524462.1_Silent_p.F569F	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	754	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			TCAGCTTGATGAAGGGGCTGG	0.642																																						dbGAP											0													31.0	26.0	28.0					19																	10468728		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0				CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.2262C>T	19.37:g.10468728G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6QB10|Q96CH0	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_TYK2_N	p.F754	ENST00000525621.1	37	c.2262	CCDS12236.1	19																																																																																			TYK2	-	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,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2	ENSG00000105397		0.642	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYK2	HGNC	protein_coding	OTTHUMT00000389443.1	24	0.00	0	G			10468728	10468728	-1	no_errors	ENST00000264818	ensembl	human	known	69_37n	silent	23	20.69	6	SNP	1.000	A
TYW1B	441250	genome.wustl.edu	37	7	72159806	72159806	+	RNA	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:72159806G>A	ENST00000435769.2	-	0	1500				TYW1B_ENST00000438125.1_RNA|TYW1B_ENST00000343721.5_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										TAACTGGCTCGAGGTTCCTTA	0.393																																						dbGAP											0													80.0	66.0	70.0					7																	72159806		692	1591	2283	-	-	-			0			BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"""radical S-adenosyl methionine and flavodoxin domains 1"", ""non-protein coding RNA 69"", ""long intergenic non-protein coding RNA 69"""		"""tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"""				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72159806G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NG09|B4DFY2|Q3KQX2	RNA	SNP	-	NULL	ENST00000435769.2	37	NULL		7																																																																																			TYW1B	-	-	ENSG00000254184		0.393	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	TYW1B	HGNC	polymorphic_pseudogene	OTTHUMT00000347346.2	129	0.00	0	G	NM_001145440		72159806	72159806	-1	no_errors	ENST00000438125	ensembl	human	known	69_37n	rna	63	41.82	46	SNP	0.999	A
UAP1	6675	genome.wustl.edu	37	1	162535985	162535985	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:162535985G>A	ENST00000367925.1	+	1	159	c.127G>A	c.(127-129)Gag>Aag	p.E43K	UAP1_ENST00000367926.4_Missense_Mutation_p.E43K|UAP1_ENST00000367924.1_Missense_Mutation_p.E43K|UAP1_ENST00000271469.3_Missense_Mutation_p.E43K			Q16222	UAP1_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1	43					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|UDP-N-acetylglucosamine diphosphorylase activity (GO:0003977)			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			CATGAACTTTGAGGAGCTGAA	0.468																																						dbGAP											0													89.0	82.0	84.0					1																	162535985		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011004	CCDS1240.1	1q23.2	2014-07-31	2014-07-31		ENSG00000117143	ENSG00000117143	2.7.7.23		12457	protein-coding gene	gene with protein product		602862		SPAG2		9603950, 8025165	Standard	NM_003115		Approved	AGX1, AgX	uc001gce.4	Q16222	OTTHUMG00000034419	ENST00000367925.1:c.127G>A	1.37:g.162535985G>A	ENSP00000356902:p.Glu43Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6R8|Q5VTA9|Q5VTB0|Q5VTB1|Q96GM2	Missense_Mutation	SNP	pfam_UDPGP_trans	p.E43K	ENST00000367925.1	37	c.127		1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.715933	0.48622	.	.	ENSG00000117143	ENST00000412525;ENST00000367926;ENST00000271469;ENST00000367925;ENST00000367924	T;T;T;T;T	0.17213	2.29;2.29;2.29;2.29;2.29	5.2	4.28	0.50868	.	0.264533	0.37393	N	0.002115	T	0.07908	0.0198	L	0.56124	1.755	0.27222	N	0.9596480000000001	B	0.17852	0.024	B	0.21151	0.033	T	0.09552	-1.0669	9	0.30078	T	0.28	-16.8034	12.2455	0.54568	0.0:0.3296:0.6704:0.0	.	43	Q16222-2	.	K	43	ENSP00000395648:E43K;ENSP00000356903:E43K;ENSP00000271469:E43K;ENSP00000356902:E43K;ENSP00000356901:E43K	ENSP00000271469:E43K	E	+	1	0	UAP1	160802609	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.448000	0.44926	1.165000	0.42670	0.591000	0.81541	GAG	UAP1	-	NULL	ENSG00000117143		0.468	UAP1-002	KNOWN	basic	protein_coding	UAP1	HGNC	protein_coding	OTTHUMT00000083203.1	84	0.00	0	G	NM_003115		162535985	162535985	+1	no_errors	ENST00000271469	ensembl	human	known	69_37n	missense	114	14.93	20	SNP	1.000	A
UBA1	7317	genome.wustl.edu	37	X	47060715	47060715	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:47060715G>A	ENST00000335972.6	+	7	811	c.628G>A	c.(628-630)Gat>Aat	p.D210N	UBA1_ENST00000377351.4_Missense_Mutation_p.D210N	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	210	2 approximate repeats.				cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|modification-dependent protein catabolic process (GO:0019941)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GATCCTCACAGATTCCAATGG	0.547																																						dbGAP											0													69.0	56.0	60.0					X																	47060715		2203	4298	6501	-	-	-	SO:0001583	missense	0			AF258566	CCDS14275.1	Xp11.23	2014-08-13	2007-11-30	2007-11-30	ENSG00000130985	ENSG00000130985	6.3.2.19	"""Ubiquitin-like modifier activating enzymes"""	12469	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog (yeast)"", ""POC20 centriolar protein homolog (Chlamydomonas)"""	314370	"""ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)"", ""ubiquitin-activating enzyme E1"""	A1S9T, GXP1, UBE1		1845793	Standard	NM_153280		Approved	UBE1X, POC20, CFAP124	uc004dhj.4	P22314	OTTHUMG00000021436	ENST00000335972.6:c.628G>A	X.37:g.47060715G>A	ENSP00000338413:p.Asp210Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JRR8|Q96E13	Missense_Mutation	SNP	pfam_ThiF_NAD_FAD-bd,pfam_Ub-activating_enz_e1_C,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1	p.D210N	ENST00000335972.6	37	c.628	CCDS14275.1	X	.	.	.	.	.	.	.	.	.	.	G	23.3	4.395404	0.83011	.	.	ENSG00000130985	ENST00000377351;ENST00000412206;ENST00000442035;ENST00000335972	T;T;T;T	0.35605	1.3;1.3;1.3;1.3	5.36	4.5	0.54988	Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.096383	0.64402	D	0.000002	T	0.64638	0.2616	M	0.89414	3.03	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.71137	-0.4680	10	0.72032	D	0.01	-19.7441	12.4912	0.55901	0.0847:0.0:0.9153:0.0	.	210	P22314	UBA1_HUMAN	N	210;210;224;210	ENSP00000366568:D210N;ENSP00000415033:D210N;ENSP00000389583:D224N;ENSP00000338413:D210N	ENSP00000338413:D210N	D	+	1	0	UBA1	46945659	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	9.738000	0.98835	1.174000	0.42811	0.509000	0.49947	GAT	UBA1	-	superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1	ENSG00000130985		0.547	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA1	HGNC	protein_coding	OTTHUMT00000056389.1	97	0.00	0	G	NM_003334		47060715	47060715	+1	no_errors	ENST00000335972	ensembl	human	known	69_37n	missense	91	20.18	23	SNP	1.000	A
UBA5	79876	genome.wustl.edu	37	3	132387769	132387769	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:132387769G>A	ENST00000356232.4	+	4	1477	c.405G>A	c.(403-405)ctG>ctA	p.L135L	UBA5_ENST00000493720.2_Silent_p.L135L|UBA5_ENST00000473651.1_Silent_p.L135L|UBA5_ENST00000494238.2_Silent_p.L79L|UBA5_ENST00000264991.4_Silent_p.L79L	NM_024818.3	NP_079094.1	Q9GZZ9	UBA5_HUMAN	ubiquitin-like modifier activating enzyme 5	135					protein ufmylation (GO:0071569)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|UFM1 activating enzyme activity (GO:0071566)			breast(2)|endometrium(4)|kidney(4)|large_intestine(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						AACATACTCTGAGGTAAATGG	0.303																																						dbGAP											0													115.0	110.0	112.0					3																	132387769		2203	4298	6501	-	-	-	SO:0001819	synonymous_variant	0			AY253672	CCDS3076.1, CCDS3077.1	3q22	2007-11-30	2007-11-30	2007-11-30	ENSG00000081307	ENSG00000081307		"""Ubiquitin-like modifier activating enzymes"""	23230	protein-coding gene	gene with protein product	"""UBA5, ubiquitin-activating enzyme E1 homolog (yeast)"""	610552	"""ubiquitin-activating enzyme E1-domain containing 1"""	UBE1DC1		11230166, 15071506	Standard	NM_198329		Approved	FLJ23251	uc003epa.4	Q9GZZ9	OTTHUMG00000159759	ENST00000356232.4:c.405G>A	3.37:g.132387769G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJL3|D3DNC8|Q96ST1	Silent	SNP	pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB	p.L135	ENST00000356232.4	37	c.405	CCDS3076.1	3																																																																																			UBA5	-	pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB	ENSG00000081307		0.303	UBA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA5	HGNC	protein_coding	OTTHUMT00000357187.2	88	0.00	0	G	NM_024818		132387769	132387769	+1	no_errors	ENST00000356232	ensembl	human	known	69_37n	silent	75	30.56	33	SNP	1.000	A
UBAP1	51271	genome.wustl.edu	37	9	34234326	34234326	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:34234326C>T	ENST00000297661.4	+	3	382	c.147C>T	c.(145-147)gtC>gtT	p.V49V	UBAP1_ENST00000545103.1_Silent_p.V113V|UBAP1_ENST00000536252.1_Silent_p.V49V|UBAP1_ENST00000540348.1_Silent_p.V49V|UBAP1_ENST00000379186.4_Silent_p.V49V|UBAP1_ENST00000359544.2_Silent_p.V49V|UBAP1_ENST00000543944.1_Intron	NM_016525.4	NP_057609.2	Q9NZ09	UBAP1_HUMAN	ubiquitin associated protein 1	49	UMA. {ECO:0000255|PROSITE- ProRule:PRU00830}.				protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ESCRT I complex (GO:0000813)	ubiquitin binding (GO:0043130)			endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(29;0.00272)			TGCAGGTTGTCAGAGAAGTAC	0.338																																					NSCLC(109;1074 1634 14978 20375 39620)	dbGAP											0													114.0	110.0	111.0					9																	34234326		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF222043	CCDS6550.1	9p13.3	2008-05-15	2002-08-27	2002-08-30	ENSG00000165006	ENSG00000165006			12461	protein-coding gene	gene with protein product		609787	"""ubiquitin associated protein"""	UBAP			Standard	NM_001171201		Approved		uc011loj.2	Q9NZ09	OTTHUMG00000000430	ENST00000297661.4:c.147C>T	9.37:g.34234326C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z348|B7Z8N9|D3DRL7|F5GXE2|F5H0J8|Q4V759|Q53FP7|Q5T7B3|Q6FI75|Q8NC52|Q8NCG6|Q8NCH9	Silent	SNP	superfamily_UBA-like,pfscan_UBA/transl_elong_EF1B_N_euk	p.V113	ENST00000297661.4	37	c.339	CCDS6550.1	9																																																																																			UBAP1	-	NULL	ENSG00000165006		0.338	UBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBAP1	HGNC	protein_coding	OTTHUMT00000001084.1	125	0.00	0	C			34234326	34234326	+1	no_errors	ENST00000545103	ensembl	human	known	69_37n	silent	125	15.54	23	SNP	1.000	T
UBAP2	55833	genome.wustl.edu	37	9	33941794	33941794	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:33941794G>A	ENST00000379238.1	-	16	1899	c.1782C>T	c.(1780-1782)gtC>gtT	p.V594V	UBAP2_ENST00000360802.1_Silent_p.V594V|UBAP2_ENST00000449054.1_Silent_p.V594V|UBAP2_ENST00000539807.1_Silent_p.V349V|UBAP2_ENST00000379239.4_Silent_p.V327V|UBAP2_ENST00000418786.2_Silent_p.V541V|UBAP2_ENST00000379225.1_Silent_p.V227V					ubiquitin associated protein 2											endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		AGGAGGTAATGACGGAAGTTG	0.398																																						dbGAP											0													169.0	158.0	161.0					9																	33941794		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.1782C>T	9.37:g.33941794G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_DUF3697_Uba2,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk	p.V594	ENST00000379238.1	37	c.1782	CCDS6547.1	9																																																																																			UBAP2	-	NULL	ENSG00000137073		0.398	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBAP2	HGNC	protein_coding	OTTHUMT00000001071.1	125	0.00	0	G	NM_018449		33941794	33941794	-1	no_errors	ENST00000360802	ensembl	human	known	69_37n	silent	108	22.86	32	SNP	0.929	A
UBAP2	55833	genome.wustl.edu	37	9	33973198	33973198	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:33973198G>C	ENST00000379238.1	-	7	675	c.558C>G	c.(556-558)ttC>ttG	p.F186L	UBAP2_ENST00000360802.1_Missense_Mutation_p.F186L|UBAP2_ENST00000449054.1_Missense_Mutation_p.F186L|UBAP2_ENST00000539807.1_Intron|UBAP2_ENST00000379239.4_Intron|UBAP2_ENST00000418786.2_Intron					ubiquitin associated protein 2											endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		CTTGGGTTGAGAACCTTCCTG	0.363																																						dbGAP											0													105.0	114.0	111.0					9																	33973198		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.558C>G	9.37:g.33973198G>C	ENSP00000368540:p.Phe186Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_DUF3697_Uba2,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk	p.F186L	ENST00000379238.1	37	c.558	CCDS6547.1	9	.	.	.	.	.	.	.	.	.	.	G	14.77	2.633165	0.47049	.	.	ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000379260;ENST00000421278	T;T;T	0.27890	1.64;1.64;1.64	6.07	3.25	0.37280	.	0.043970	0.85682	N	0.000000	T	0.21347	0.0514	L	0.50333	1.59	0.80722	D	1	B;P	0.43519	0.22;0.809	B;B	0.37943	0.108;0.261	T	0.06463	-1.0825	10	0.17369	T	0.5	-16.8584	5.7907	0.18359	0.227:0.1405:0.6324:0.0	.	111;186	F5H4D5;Q5T6F2	.;UBAP2_HUMAN	L	186;186;186;126;62	ENSP00000368540:F186L;ENSP00000416932:F186L;ENSP00000354039:F186L	ENSP00000354039:F186L	F	-	3	2	UBAP2	33963198	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.866000	0.39489	0.441000	0.26529	-0.140000	0.14226	TTC	UBAP2	-	NULL	ENSG00000137073		0.363	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBAP2	HGNC	protein_coding	OTTHUMT00000001071.1	100	0.00	0	G	NM_018449		33973198	33973198	-1	no_errors	ENST00000360802	ensembl	human	known	69_37n	missense	123	15.07	22	SNP	1.000	C
UBAP2	55833	genome.wustl.edu	37	9	33989072	33989072	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:33989072G>C	ENST00000379238.1	-	5	458	c.341C>G	c.(340-342)tCa>tGa	p.S114*	UBAP2_ENST00000360802.1_Nonsense_Mutation_p.S114*|UBAP2_ENST00000449054.1_Nonsense_Mutation_p.S114*|UBAP2_ENST00000539807.1_Intron|UBAP2_ENST00000379239.4_5'UTR|UBAP2_ENST00000418786.2_Nonsense_Mutation_p.S114*					ubiquitin associated protein 2											endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		TTTGTTTTCTGAATTTTCTTT	0.403																																						dbGAP											0													144.0	134.0	138.0					9																	33989072		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.341C>G	9.37:g.33989072G>C	ENSP00000368540:p.Ser114*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_DUF3697_Uba2,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk	p.S114*	ENST00000379238.1	37	c.341	CCDS6547.1	9	.	.	.	.	.	.	.	.	.	.	G	23.1	4.374928	0.82573	.	.	ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000431417;ENST00000379260;ENST00000351580;ENST00000418786;ENST00000412543	.	.	.	5.18	2.35	0.29111	.	0.376501	0.28257	N	0.016013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	0.0427	10.2601	0.43421	0.2154:0.0:0.7846:0.0	.	.	.	.	X	114;114;114;76;54;114;114;114	.	ENSP00000259602:S114X	S	-	2	0	UBAP2	33979072	1.000000	0.71417	0.919000	0.36401	0.053000	0.15095	5.961000	0.70356	0.205000	0.20568	-0.145000	0.13849	TCA	UBAP2	-	NULL	ENSG00000137073		0.403	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBAP2	HGNC	protein_coding	OTTHUMT00000001071.1	166	0.00	0	G	NM_018449		33989072	33989072	-1	no_errors	ENST00000360802	ensembl	human	known	69_37n	nonsense	183	36.01	103	SNP	1.000	C
UBAP1	51271	genome.wustl.edu	37	9	34250668	34250668	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:34250668C>T	ENST00000297661.4	+	6	1514	c.1279C>T	c.(1279-1281)Ctc>Ttc	p.L427F	UBAP1_ENST00000545103.1_Missense_Mutation_p.L491F|UBAP1_ENST00000536252.1_Missense_Mutation_p.L427F|UBAP1_ENST00000540348.1_Missense_Mutation_p.L427F|UBAP1_ENST00000379186.4_Missense_Mutation_p.L366F|UBAP1_ENST00000359544.2_Missense_Mutation_p.L427F|UBAP1_ENST00000543944.1_Missense_Mutation_p.L463F	NM_016525.4	NP_057609.2	Q9NZ09	UBAP1_HUMAN	ubiquitin associated protein 1	427	UBA 1. {ECO:0000255|PROSITE- ProRule:PRU00212}.				protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ESCRT I complex (GO:0000813)	ubiquitin binding (GO:0043130)			endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(29;0.00272)			TCTCGACTATCTCTTTGCACA	0.458																																					NSCLC(109;1074 1634 14978 20375 39620)	dbGAP											0													140.0	125.0	130.0					9																	34250668		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF222043	CCDS6550.1	9p13.3	2008-05-15	2002-08-27	2002-08-30	ENSG00000165006	ENSG00000165006			12461	protein-coding gene	gene with protein product		609787	"""ubiquitin associated protein"""	UBAP			Standard	NM_001171201		Approved		uc011loj.2	Q9NZ09	OTTHUMG00000000430	ENST00000297661.4:c.1279C>T	9.37:g.34250668C>T	ENSP00000297661:p.Leu427Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z348|B7Z8N9|D3DRL7|F5GXE2|F5H0J8|Q4V759|Q53FP7|Q5T7B3|Q6FI75|Q8NC52|Q8NCG6|Q8NCH9	Missense_Mutation	SNP	superfamily_UBA-like,pfscan_UBA/transl_elong_EF1B_N_euk	p.L491F	ENST00000297661.4	37	c.1471	CCDS6550.1	9	.	.	.	.	.	.	.	.	.	.	C	24.5	4.539937	0.85917	.	.	ENSG00000165006	ENST00000545103;ENST00000543944;ENST00000536252;ENST00000540348;ENST00000297661;ENST00000379186;ENST00000359544	T;T;T;T;T;T;T	0.71817	-0.6;-0.55;-0.6;-0.6;-0.6;0.94;-0.6	6.17	5.11	0.69529	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (1);UBA-like (1);	0.000000	0.85682	D	0.000000	D	0.84188	0.5417	M	0.77103	2.36	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;0.991;0.999;0.999	D	0.85448	0.1159	10	0.87932	D	0	-10.3457	16.4691	0.84095	0.0:0.9281:0.0:0.0719	.	491;463;491;427	F5GXE2;F5H0J8;B7Z8N9;Q9NZ09	.;.;.;UBAP1_HUMAN	F	491;463;427;427;427;366;427	ENSP00000441024:L491F;ENSP00000439806:L463F;ENSP00000440456:L427F;ENSP00000439976:L427F;ENSP00000297661:L427F;ENSP00000368484:L366F;ENSP00000352541:L427F	ENSP00000297661:L427F	L	+	1	0	UBAP1	34240668	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.575000	0.53870	2.941000	0.99782	0.655000	0.94253	CTC	UBAP1	-	superfamily_UBA-like,pfscan_UBA/transl_elong_EF1B_N_euk	ENSG00000165006		0.458	UBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBAP1	HGNC	protein_coding	OTTHUMT00000001084.1	121	0.00	0	C			34250668	34250668	+1	no_errors	ENST00000545103	ensembl	human	known	69_37n	missense	74	50.00	74	SNP	1.000	T
UBAP2L	9898	genome.wustl.edu	37	1	154226531	154226531	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:154226531C>G	ENST00000361546.2	+	14	1862	c.1820C>G	c.(1819-1821)tCt>tGt	p.S607C	UBAP2L_ENST00000428931.1_Missense_Mutation_p.S607C|UBAP2L_ENST00000271877.7_Missense_Mutation_p.S618C|UBAP2L_ENST00000343815.6_Missense_Mutation_p.S607C|AL590431.1_ENST00000517008.1_RNA			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	607					binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGCTCCATCTCTTCATCACCC	0.473																																						dbGAP											0													63.0	59.0	60.0					1																	154226531		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.1820C>G	1.37:g.154226531C>G	ENSP00000355343:p.Ser607Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Missense_Mutation	SNP	pfam_DUF3697_Uba2,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.S607C	ENST00000361546.2	37	c.1820	CCDS1063.1	1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.180814	0.78677	.	.	ENSG00000143569	ENST00000343815;ENST00000428931;ENST00000456955;ENST00000433006;ENST00000271877;ENST00000361546	T;T;T;T	0.14266	2.52;2.53;2.53;2.53	5.05	5.05	0.67936	.	0.116646	0.64402	D	0.000011	T	0.24084	0.0583	L	0.48642	1.525	0.53688	D	0.999977	D;D;D;D;D	0.76494	0.997;0.999;0.999;0.999;0.997	D;D;D;D;D	0.81914	0.971;0.995;0.987;0.987;0.971	T	0.00953	-1.1502	10	0.87932	D	0	-7.5908	17.5691	0.87930	0.0:1.0:0.0:0.0	.	521;618;600;607;607	B4DZJ6;F8W726;Q14157-4;Q14157-1;Q14157	.;.;.;.;UBP2L_HUMAN	C	607;607;103;103;618;607	ENSP00000345308:S607C;ENSP00000389445:S607C;ENSP00000271877:S618C;ENSP00000355343:S607C	ENSP00000271877:S618C	S	+	2	0	UBAP2L	152493155	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.164000	0.71885	2.623000	0.88846	0.655000	0.94253	TCT	UBAP2L	-	NULL	ENSG00000143569		0.473	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBAP2L	HGNC	protein_coding	OTTHUMT00000087673.1	58	0.00	0	C	NM_014847		154226531	154226531	+1	no_errors	ENST00000361546	ensembl	human	known	69_37n	missense	69	22.47	20	SNP	1.000	G
UBAP2L	9898	genome.wustl.edu	37	1	154227755	154227755	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:154227755G>C	ENST00000361546.2	+	16	2079	c.2037G>C	c.(2035-2037)ttG>ttC	p.L679F	UBAP2L_ENST00000428931.1_Missense_Mutation_p.L679F|UBAP2L_ENST00000271877.7_Missense_Mutation_p.L690F|UBAP2L_ENST00000343815.6_Missense_Mutation_p.L679F|AL590431.1_ENST00000517008.1_RNA			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	679					binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGGGTGGCTTGAGCCACAGTG	0.493																																						dbGAP											0													166.0	147.0	154.0					1																	154227755		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.2037G>C	1.37:g.154227755G>C	ENSP00000355343:p.Leu679Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Missense_Mutation	SNP	pfam_DUF3697_Uba2,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.L679F	ENST00000361546.2	37	c.2037	CCDS1063.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.76|15.76	2.928732|2.928732	0.52759|0.52759	.|.	.|.	ENSG00000143569|ENSG00000143569	ENST00000433615|ENST00000343815;ENST00000428931;ENST00000456955;ENST00000433006;ENST00000271877;ENST00000361546	.|T;T;T;T	.|0.16743	.|2.32;2.33;2.33;2.33	5.72|5.72	4.81|4.81	0.61882|0.61882	.|.	.|0.269367	.|0.31113	.|N	.|0.008228	T|T	0.22936|0.22936	0.0554|0.0554	L|L	0.54323|0.54323	1.7|1.7	0.43036|0.43036	D|D	0.994618|0.994618	.|D;P;D;D;B	.|0.69078	.|0.995;0.665;0.997;0.997;0.241	.|D;B;D;D;B	.|0.75484	.|0.969;0.174;0.986;0.986;0.084	T|T	0.02378|0.02378	-1.1168|-1.1168	5|10	.|0.66056	.|D	.|0.02	-0.5442|-0.5442	9.3797|9.3797	0.38306|0.38306	0.0759:0.1441:0.7799:0.0|0.0759:0.1441:0.7799:0.0	.|.	.|593;690;672;679;679	.|B4DZJ6;F8W726;Q14157-4;Q14157-1;Q14157	.|.;.;.;.;UBP2L_HUMAN	Q|F	10|679;679;175;175;690;679	.|ENSP00000345308:L679F;ENSP00000389445:L679F;ENSP00000271877:L690F;ENSP00000355343:L679F	.|ENSP00000271877:L690F	E|L	+|+	1|3	0|2	UBAP2L|UBAP2L	152494379|152494379	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	2.862000|2.862000	0.48388|0.48388	1.406000|1.406000	0.46857|0.46857	0.655000|0.655000	0.94253|0.94253	GAG|TTG	UBAP2L	-	NULL	ENSG00000143569		0.493	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBAP2L	HGNC	protein_coding	OTTHUMT00000087673.1	130	0.00	0	G	NM_014847		154227755	154227755	+1	no_errors	ENST00000361546	ensembl	human	known	69_37n	missense	128	16.88	26	SNP	1.000	C
UBASH3B	84959	genome.wustl.edu	37	11	122672027	122672027	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:122672027G>A	ENST00000284273.5	+	11	1957	c.1582G>A	c.(1582-1584)Gat>Aat	p.D528N		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	528	Protein tyrosine phosphatase. {ECO:0000250}.				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)		CCTGAGTGTTGATACAACCTA	0.522																																						dbGAP											0													147.0	137.0	141.0					11																	122672027		2202	4299	6501	-	-	-	SO:0001583	missense	0			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.1582G>A	11.37:g.122672027G>A	ENSP00000284273:p.Asp528Asn	Somatic		WXS	Illumina GAIIx	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.D528N	ENST00000284273.5	37	c.1582	CCDS31694.1	11	.	.	.	.	.	.	.	.	.	.	G	33	5.212979	0.95069	.	.	ENSG00000154127	ENST00000284273	T	0.72394	-0.65	5.47	5.47	0.80525	Histidine phosphatase superfamily, clade-1 (1);	0.000000	0.85682	D	0.000000	D	0.83188	0.5200	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.82651	-0.0352	10	0.45353	T	0.12	-19.7561	18.9206	0.92523	0.0:0.0:1.0:0.0	.	528	Q8TF42	UBS3B_HUMAN	N	528	ENSP00000284273:D528N	ENSP00000284273:D528N	D	+	1	0	UBASH3B	122177237	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.415000	0.97375	2.544000	0.85801	0.655000	0.94253	GAT	UBASH3B	-	pfam_His_Pase_superF_clade-1	ENSG00000154127		0.522	UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBASH3B	HGNC	protein_coding	OTTHUMT00000387499.1	57	0.00	0	G	NM_032873		122672027	122672027	+1	no_errors	ENST00000284273	ensembl	human	known	69_37n	missense	42	42.47	31	SNP	1.000	A
UBC	7316	genome.wustl.edu	37	12	125397236	125397236	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:125397236G>C	ENST00000536769.1	-	1	2658	c.1082C>G	c.(1081-1083)tCt>tGt	p.S361C	UBC_ENST00000538617.1_Intron|UBC_ENST00000339647.5_Missense_Mutation_p.S361C|UBC_ENST00000536661.1_5'Flank|UBC_ENST00000546120.1_Missense_Mutation_p.S285C|MIR5188_ENST00000583467.1_RNA			P0CG48	UBC_HUMAN	ubiquitin C	361	Ubiquitin-like 5. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|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)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|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 transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GTTGTAGTCAGACAGGGTACG	0.517																																						dbGAP											0													187.0	173.0	178.0					12																	125397236		2203	4297	6500	-	-	-	SO:0001583	missense	0				CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000536769.1:c.1082C>G	12.37:g.125397236G>C	ENSP00000441543:p.Ser361Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr	p.S361C	ENST00000536769.1	37	c.1082	CCDS9260.1	12	.	.	.	.	.	.	.	.	.	.	G	15.89	2.965619	0.53507	.	.	ENSG00000150991	ENST00000536769;ENST00000535460;ENST00000541046;ENST00000339647;ENST00000546120	T;T;T	0.75260	-0.92;-0.92;-0.92	3.16	3.16	0.36331	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.46145	U	0.000306	D	0.84786	0.5549	M	0.86343	2.81	0.80722	D	1	D;D;P	0.67145	0.996;0.982;0.848	P;P;P	0.61658	0.892;0.519;0.703	D	0.87468	0.2412	10	0.87932	D	0	.	11.8625	0.52474	0.0:0.0:1.0:0.0	.	450;361;361	Q66K58;F5H7K6;P0CG48	.;.;UBC_HUMAN	C	361;361;285;361;285	ENSP00000441543:S361C;ENSP00000344818:S361C;ENSP00000438394:S285C	ENSP00000344818:S361C	S	-	2	0	UBC	123963189	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	7.683000	0.84093	1.611000	0.50210	0.550000	0.68814	TCT	UBC	-	pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup	ENSG00000150991		0.517	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	UBC	HGNC	protein_coding	OTTHUMT00000400177.1	184	0.00	0	G	NM_021009		125397236	125397236	-1	no_errors	ENST00000339647	ensembl	human	known	69_37n	missense	247	19.28	59	SNP	1.000	C
UBE2E1	7324	genome.wustl.edu	37	3	23929154	23929154	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:23929154C>T	ENST00000306627.3	+	4	519	c.300C>T	c.(298-300)atC>atT	p.I100I	UBE2E1_ENST00000346855.3_Silent_p.I83I|UBE2E1_ENST00000424381.1_Silent_p.I67I|UBE2E1_ENST00000475680.1_3'UTR|UBE2E1_ENST00000467766.1_Silent_p.I67I	NM_003341.4	NP_003332.1	P51965	UB2E1_HUMAN	ubiquitin-conjugating enzyme E2E 1	100					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cytokine-mediated signaling pathway (GO:0019221)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ISG15-protein conjugation (GO:0032020)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|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 K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ATP binding (GO:0005524)|ISG15 ligase activity (GO:0042296)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|large_intestine(4)	7						TTCTCGATATCACTTTTACAC	0.433																																						dbGAP											0													176.0	161.0	166.0					3																	23929154		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X92963	CCDS2638.1, CCDS2639.1, CCDS56244.1	3p24.2	2011-05-19	2011-05-19		ENSG00000170142	ENSG00000170142		"""Ubiquitin-conjugating enzymes E2"""	12477	protein-coding gene	gene with protein product		602916	"""ubiquitin-conjugating enzyme E2E 1 (homologous to yeast UBC4/5)"", ""ubiquitin-conjugating enzyme E2E 1 (UBC4/5 homolog, yeast)"""			8576257	Standard	NM_003341		Approved	UbcH6	uc003cch.3	P51965	OTTHUMG00000130483	ENST00000306627.3:c.300C>T	3.37:g.23929154C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBX4|C9J8K2|K4DI90	Silent	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.I100	ENST00000306627.3	37	c.300	CCDS2638.1	3																																																																																			UBE2E1	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	ENSG00000170142		0.433	UBE2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2E1	HGNC	protein_coding	OTTHUMT00000252882.2	108	0.00	0	C	NM_003341		23929154	23929154	+1	no_errors	ENST00000306627	ensembl	human	known	69_37n	silent	154	10.98	19	SNP	1.000	T
UBE2L6	9246	genome.wustl.edu	37	11	57321943	57321943	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:57321943C>G	ENST00000287156.4	-	3	472	c.277G>C	c.(277-279)Gag>Cag	p.E93Q	UBE2L6_ENST00000340573.4_Missense_Mutation_p.E27Q	NM_004223.4	NP_004214.1	O14933	UB2L6_HUMAN	ubiquitin-conjugating enzyme E2L 6	93					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						TTCCAGTTCTCACTGCTGATG	0.527																																						dbGAP											0													187.0	167.0	173.0					11																	57321943		2201	4296	6497	-	-	-	SO:0001583	missense	0			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.277G>C	11.37:g.57321943C>G	ENSP00000287156:p.Glu93Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDM6|A8MY53|Q8N5D8|Q9UEZ0	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.E93Q	ENST00000287156.4	37	c.277	CCDS7960.1	11	.	.	.	.	.	.	.	.	.	.	C	14.84	2.655484	0.47467	.	.	ENSG00000156587	ENST00000340573;ENST00000287156;ENST00000527022;ENST00000526659	T;T;T;T	0.74421	1.14;-0.84;1.14;-0.84	6.06	-1.27	0.09347	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.620424	0.15081	N	0.281670	T	0.58991	0.2161	L	0.58510	1.815	0.21915	N	0.999478	B	0.15141	0.012	B	0.21360	0.034	T	0.39099	-0.9630	10	0.08599	T	0.76	.	2.6986	0.05142	0.1058:0.4315:0.208:0.2547	.	93	O14933	UB2L6_HUMAN	Q	27;93;27;100	ENSP00000341980:E27Q;ENSP00000287156:E93Q;ENSP00000435265:E27Q;ENSP00000434348:E100Q	ENSP00000287156:E93Q	E	-	1	0	UBE2L6	57078519	0.009000	0.17119	0.069000	0.20011	0.860000	0.49131	0.256000	0.18351	0.057000	0.16193	0.655000	0.94253	GAG	UBE2L6	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	ENSG00000156587		0.527	UBE2L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2L6	HGNC	protein_coding	OTTHUMT00000392657.1	106	0.00	0	C	NM_004223		57321943	57321943	-1	no_errors	ENST00000287156	ensembl	human	known	69_37n	missense	78	56.67	102	SNP	0.206	G
UBE2L6	9246	genome.wustl.edu	37	11	57327816	57327816	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:57327816G>A	ENST00000287156.4	-	2	312	c.117C>T	c.(115-117)ctC>ctT	p.L39L	UBE2L6_ENST00000340573.4_5'UTR	NM_004223.4	NP_004214.1	O14933	UB2L6_HUMAN	ubiquitin-conjugating enzyme E2L 6	39					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						TCACGGGTAGGAGGAGAGCGT	0.577																																						dbGAP											0													200.0	165.0	177.0					11																	57327816		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			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.117C>T	11.37:g.57327816G>A		Somatic		WXS	Illumina GAIIx	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.L39	ENST00000287156.4	37	c.117	CCDS7960.1	11																																																																																			UBE2L6	-	pfam_UBQ-conjugat_E2,pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	ENSG00000156587		0.577	UBE2L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2L6	HGNC	protein_coding	OTTHUMT00000392657.1	45	0.00	0	G	NM_004223		57327816	57327816	-1	no_errors	ENST00000287156	ensembl	human	known	69_37n	silent	66	10.81	8	SNP	0.991	A
UBE2NL	389898	genome.wustl.edu	37	X	142967229	142967229	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:142967229C>G	ENST00000370494.1	+	1	57	c.27C>G	c.(25-27)atC>atG	p.I9M		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like (gene/pseudogene)	9						extracellular vesicular exosome (GO:0070062)	acid-amino acid ligase activity (GO:0016881)			breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					ACAGGATCATCAAGGAAACCC	0.458																																						dbGAP											0													62.0	62.0	62.0					X																	142967229		2203	4300	6503	-	-	-	SO:0001583	missense	0					Xq27.3	2014-06-11	2014-06-11		ENSG00000102069			"""Ubiquitin-conjugating enzymes E2"""	31710	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2N-like"""			20736409	Standard	NM_001012989		Approved		uc004fca.3	Q5JXB2	OTTHUMG00000022586	ENST00000370494.1:c.27C>G	X.37:g.142967229C>G	ENSP00000359525:p.Ile9Met	Somatic		WXS	Illumina GAIIx	Phase_IV	E9KL27	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.I9M	ENST00000370494.1	37	c.27	CCDS35420.1	X	.	.	.	.	.	.	.	.	.	.	C	0.618	-0.822103	0.02755	.	.	ENSG00000102069	ENST00000370494	T	0.71579	-0.58	1.28	1.28	0.21552	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.44097	U	0.000498	T	0.53899	0.1825	L	0.31420	0.93	0.46260	D	0.998955	B	0.18968	0.032	B	0.25405	0.06	T	0.51849	-0.8653	10	0.59425	D	0.04	0.2578	5.5922	0.17307	0.0:1.0:0.0:0.0	.	9	Q5JXB2	UE2NL_HUMAN	M	9	ENSP00000359525:I9M	ENSP00000359525:I9M	I	+	3	3	UBE2NL	142794895	0.975000	0.34042	0.998000	0.56505	0.086000	0.17979	0.071000	0.14594	0.945000	0.37605	0.190000	0.17370	ATC	UBE2NL	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	ENSG00000102069		0.458	UBE2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2NL	HGNC	protein_coding	OTTHUMT00000058624.1	41	0.00	0	C	NM_001012989		142967229	142967229	+1	no_errors	ENST00000370494	ensembl	human	known	69_37n	missense	22	33.33	11	SNP	1.000	G
UBE2Q2	92912	genome.wustl.edu	37	15	76152225	76152225	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:76152225C>G	ENST00000267938.4	+	3	671	c.289C>G	c.(289-291)Cag>Gag	p.Q97E	UBE2Q2_ENST00000569423.1_Intron|UBE2Q2_ENST00000562635.1_3'UTR|UBE2Q2_ENST00000561851.1_Missense_Mutation_p.Q81E|UBE2Q2_ENST00000338677.4_Missense_Mutation_p.Q97E	NM_173469.2	NP_775740.1	Q8WVN8	UB2Q2_HUMAN	ubiquitin-conjugating enzyme E2Q family member 2	97					protein K48-linked ubiquitination (GO:0070936)	cytoplasm (GO:0005737)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	12						GTAGCTTCGTCAGCAATTGAA	0.383																																						dbGAP											0													78.0	66.0	70.0					15																	76152225		2197	4294	6491	-	-	-	SO:0001583	missense	0			BC017708	CCDS10286.1, CCDS45309.1, CCDS66839.1	15q24.2	2010-05-12	2008-05-02		ENSG00000140367	ENSG00000140367		"""Ubiquitin-conjugating enzymes E2"""	19248	protein-coding gene	gene with protein product		612501	"""ubiquitin-conjugating enzyme E2Q (putative) 2"""			16300736	Standard	NM_001145335		Approved	DKFZp762C143	uc002bbg.2	Q8WVN8	OTTHUMG00000142839	ENST00000267938.4:c.289C>G	15.37:g.76152225C>G	ENSP00000267938:p.Gln97Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3Q2|H3BRG2|Q8N4G6|Q96J08	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.Q97E	ENST00000267938.4	37	c.289	CCDS10286.1	15	.	.	.	.	.	.	.	.	.	.	C	20.2	3.954724	0.73902	.	.	ENSG00000140367	ENST00000338677;ENST00000267938;ENST00000426727	T;T	0.38887	1.11;1.11	5.13	5.13	0.70059	Ubiquitin-conjugating enzyme/RWD-like (1);RWD domain (1);	0.000000	0.85682	D	0.000000	T	0.48607	0.1509	L	0.52759	1.655	0.50039	D	0.999849	P;P	0.46064	0.76;0.872	B;P	0.51582	0.343;0.674	T	0.28364	-1.0046	10	0.20046	T	0.44	.	16.136	0.81490	0.0:1.0:0.0:0.0	.	81;97	E9PHD0;Q8WVN8	.;UB2Q2_HUMAN	E	97;97;81	ENSP00000340187:Q97E;ENSP00000267938:Q97E	ENSP00000267938:Q97E	Q	+	1	0	UBE2Q2	73939280	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.596000	0.74113	2.427000	0.82271	0.632000	0.83419	CAG	UBE2Q2	-	superfamily_UBQ-conjugating_enzyme/RWD	ENSG00000140367		0.383	UBE2Q2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2Q2	HGNC	protein_coding	OTTHUMT00000286475.1	96	0.00	0	C	NM_173469		76152225	76152225	+1	no_errors	ENST00000267938	ensembl	human	known	69_37n	missense	78	25.00	26	SNP	1.000	G
UBE3B	89910	genome.wustl.edu	37	12	109937548	109937548	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:109937548C>T	ENST00000342494.3	+	12	1646	c.1051C>T	c.(1051-1053)Cag>Tag	p.Q351*	UBE3B_ENST00000434735.2_Nonsense_Mutation_p.Q351*|UBE3B_ENST00000280774.5_Nonsense_Mutation_p.Q351*	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	351					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						GTATGTGTCTCAGAAGAAGTC	0.532																																						dbGAP											0													154.0	120.0	131.0					12																	109937548		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.1051C>T	12.37:g.109937548C>T	ENSP00000340596:p.Gln351*	Somatic		WXS	Illumina GAIIx	Phase_IV	A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Nonsense_Mutation	SNP	pfam_HECT,pfam_IQ_motif_EF-hand-BS,superfamily_HECT,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS	p.Q351*	ENST00000342494.3	37	c.1051	CCDS9129.1	12	.	.	.	.	.	.	.	.	.	.	C	44	10.572888	0.99430	.	.	ENSG00000151148	ENST00000434735;ENST00000280774;ENST00000539599;ENST00000342494	.	.	.	5.64	5.64	0.86602	.	0.049758	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	18.6651	0.91486	0.0:1.0:0.0:0.0	.	.	.	.	X	351	.	ENSP00000280774:Q351X	Q	+	1	0	UBE3B	108421931	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	7.600000	0.82769	2.666000	0.90696	0.585000	0.79938	CAG	UBE3B	-	NULL	ENSG00000151148		0.532	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE3B	HGNC	protein_coding	OTTHUMT00000403119.1	85	0.00	0	C	NM_183415		109937548	109937548	+1	no_errors	ENST00000342494	ensembl	human	known	69_37n	nonsense	94	27.13	35	SNP	1.000	T
UBE4B	10277	genome.wustl.edu	37	1	10163031	10163031	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:10163031C>G	ENST00000253251.8	+	5	1300	c.461C>G	c.(460-462)tCt>tGt	p.S154C	UBE4B_ENST00000377157.3_Missense_Mutation_p.S38C|UBE4B_ENST00000343090.6_Missense_Mutation_p.S154C					ubiquitination factor E4B											NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-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;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		CCTGAAGTGTCTGAAGAGCAG	0.443																																						dbGAP											0													85.0	80.0	82.0					1																	10163031		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"""U-box domain containing"""	12500	protein-coding gene	gene with protein product		613565	"""ubiquitination factor E4B (homologous to yeast UFD2)"", ""ubiquitination factor E4B (UFD2 homolog, yeast)"""			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.461C>G	1.37:g.10163031C>G	ENSP00000253251:p.Ser154Cys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain	p.S154C	ENST00000253251.8	37	c.461	CCDS110.1	1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.184821	0.78677	.	.	ENSG00000130939	ENST00000253251;ENST00000377157;ENST00000343090	T;T;T	0.55413	0.68;0.74;0.52	5.98	5.98	0.97165	.	0.115133	0.64402	D	0.000009	T	0.64057	0.2564	L	0.39898	1.24	0.38345	D	0.944182	D;D	0.63046	0.992;0.99	P;P	0.58873	0.751;0.847	T	0.66101	-0.6007	10	0.66056	D	0.02	-22.8254	20.4581	0.99154	0.0:1.0:0.0:0.0	.	154;154	O95155;O95155-2	UBE4B_HUMAN;.	C	154;38;154	ENSP00000253251:S154C;ENSP00000366362:S38C;ENSP00000343001:S154C	ENSP00000253251:S154C	S	+	2	0	UBE4B	10085618	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	5.687000	0.68219	2.835000	0.97688	0.650000	0.86243	TCT	UBE4B	-	NULL	ENSG00000130939		0.443	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE4B	HGNC	protein_coding	OTTHUMT00000005017.1	59	0.00	0	C	NM_006048		10163031	10163031	+1	no_errors	ENST00000343090	ensembl	human	known	69_37n	missense	22	59.26	32	SNP	0.994	G
UBR2	23304	genome.wustl.edu	37	6	42612058	42612058	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:42612058C>T	ENST00000372899.1	+	19	2462	c.2204C>T	c.(2203-2205)tCt>tTt	p.S735F	UBR2_ENST00000372901.1_Missense_Mutation_p.S735F|UBR2_ENST00000372883.3_Missense_Mutation_p.S239F	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	735					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			AGATTTAGTTCTGAGATTACC	0.363																																						dbGAP											0													121.0	121.0	121.0					6																	42612058		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.2204C>T	6.37:g.42612058C>T	ENSP00000361990:p.Ser735Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.S735F	ENST00000372899.1	37	c.2204	CCDS4870.1	6	.	.	.	.	.	.	.	.	.	.	C	14.97	2.695534	0.48202	.	.	ENSG00000024048	ENST00000372899;ENST00000372901;ENST00000372883	T;T;T	0.50548	0.74;0.74;0.74	6.06	6.06	0.98353	.	0.160176	0.56097	D	0.000036	T	0.29817	0.0745	N	0.25485	0.75	0.31676	N	0.643734	P;B;P	0.47409	0.547;0.391;0.895	B;B;P	0.47705	0.203;0.129;0.555	T	0.10042	-1.0647	10	0.30078	T	0.28	-10.5343	15.3675	0.74535	0.1394:0.8606:0.0:0.0	.	735;735;239	Q8IWV8-4;Q8IWV8;Q8IWV8-3	.;UBR2_HUMAN;.	F	735;735;239	ENSP00000361990:S735F;ENSP00000361992:S735F;ENSP00000361974:S239F	ENSP00000361974:S239F	S	+	2	0	UBR2	42720036	0.512000	0.26186	1.000000	0.80357	0.998000	0.95712	3.352000	0.52239	2.880000	0.98712	0.650000	0.86243	TCT	UBR2	-	NULL	ENSG00000024048		0.363	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UBR2	HGNC	protein_coding	OTTHUMT00000040558.2	130	0.00	0	C	NM_015255		42612058	42612058	+1	no_errors	ENST00000372899	ensembl	human	known	69_37n	missense	114	26.92	42	SNP	0.996	T
UBR3	130507	genome.wustl.edu	37	2	170732338	170732338	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:170732338C>T	ENST00000272793.5	+	3	773	c.723C>T	c.(721-723)gtC>gtT	p.V241V	UBR3_ENST00000418381.1_Silent_p.V241V			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	241					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						TTAACAAAGTCCTTCAGCTTT	0.333																																						dbGAP											0													122.0	104.0	110.0					2																	170732338		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			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.723C>T	2.37:g.170732338C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Silent	SNP	pfam_Znf_N-recognin,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.V241	ENST00000272793.5	37	c.723		2																																																																																			UBR3	-	NULL	ENSG00000144357		0.333	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	UBR3	HGNC	protein_coding	OTTHUMT00000255290.2	96	0.00	0	C	NM_172070		170732338	170732338	+1	no_errors	ENST00000272793	ensembl	human	known	69_37n	silent	93	21.85	26	SNP	1.000	T
UBR4	23352	genome.wustl.edu	37	1	19470545	19470545	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:19470545C>G	ENST00000375254.3	-	55	8135	c.8108G>C	c.(8107-8109)cGa>cCa	p.R2703P	UBR4_ENST00000375226.2_Missense_Mutation_p.R2714P|UBR4_ENST00000375217.2_Missense_Mutation_p.R2731P|UBR4_ENST00000375267.2_Missense_Mutation_p.R2703P	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2703					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CCTTAGGACTCGAATTAGAGC	0.443																																						dbGAP											0													197.0	177.0	183.0					1																	19470545		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.8108G>C	1.37:g.19470545C>G	ENSP00000364403:p.Arg2703Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.R2703P	ENST00000375254.3	37	c.8108	CCDS189.1	1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.039496	0.93630	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000425413;ENST00000417040	T;T;T;T	0.34472	1.36;1.36;1.36;1.38	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.55625	0.1932	L	0.46157	1.445	0.80722	D	1	D	0.67145	0.996	D	0.72982	0.979	T	0.55186	-0.8180	10	0.72032	D	0.01	.	19.328	0.94270	0.0:1.0:0.0:0.0	.	2703	Q5T4S7	UBR4_HUMAN	P	2703;2703;2731;2714;346;1424	ENSP00000364403:R2703P;ENSP00000364416:R2703P;ENSP00000364365:R2731P;ENSP00000364374:R2714P	ENSP00000364365:R2731P	R	-	2	0	UBR4	19343132	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.285000	0.78660	2.798000	0.96311	0.655000	0.94253	CGA	UBR4	-	superfamily_ARM-type_fold	ENSG00000127481		0.443	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	135	0.00	0	C	NM_020765		19470545	19470545	-1	no_errors	ENST00000375267	ensembl	human	known	69_37n	missense	103	27.97	40	SNP	1.000	G
UBR4	23352	genome.wustl.edu	37	1	19481938	19481938	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:19481938C>G	ENST00000375254.3	-	43	6324	c.6297G>C	c.(6295-6297)ctG>ctC	p.L2099L	UBR4_ENST00000375226.2_Silent_p.L2099L|UBR4_ENST00000375217.2_Silent_p.L2099L|UBR4_ENST00000375267.2_Silent_p.L2099L	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2099					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CTCTAACCTTCAGGTCCTCAT	0.403																																						dbGAP											0													69.0	69.0	69.0					1																	19481938		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.6297G>C	1.37:g.19481938C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.L2099	ENST00000375254.3	37	c.6297	CCDS189.1	1																																																																																			UBR4	-	superfamily_ARM-type_fold	ENSG00000127481		0.403	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	40	0.00	0	C	NM_020765		19481938	19481938	-1	no_errors	ENST00000375267	ensembl	human	known	69_37n	silent	41	25.45	14	SNP	1.000	G
UBR7	55148	genome.wustl.edu	37	14	93677001	93677001	+	Missense_Mutation	SNP	C	C	T	rs267604099		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:93677001C>T	ENST00000013070.6	+	3	528	c.292C>T	c.(292-294)Cgt>Tgt	p.R98C	UBR7_ENST00000416753.1_Missense_Mutation_p.R22C|RP11-371E8.4_ENST00000557574.1_Missense_Mutation_p.R117C|RP11-371E8.4_ENST00000557048.1_3'UTR	NM_175748.3	NP_786924.2	Q8N806	UBR7_HUMAN	ubiquitin protein ligase E3 component n-recognin 7 (putative)	98							ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1)	19						CAGAAATTTTCGTTGTGATTG	0.294																																						dbGAP											0													31.0	31.0	31.0					14																	93677001		2200	4290	6490	-	-	-	SO:0001583	missense	0			AK001345	CCDS9909.1	14q32.12	2008-06-23	2008-06-23	2008-06-23		ENSG00000012963		"""Ubiquitin protein ligase E3 component n-recognins"""	20344	protein-coding gene	gene with protein product		613816	"""chromosome 14 open reading frame 130"""	C14orf130		18162545	Standard	NM_175748		Approved		uc001ybm.4	Q8N806		ENST00000013070.6:c.292C>T	14.37:g.93677001C>T	ENSP00000013070:p.Arg98Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86U21|Q86UA9|Q96BY0|Q9NVV6	Missense_Mutation	SNP	pfam_Znf_N-recognin,superfamily_Znf_FYVE_PHD,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.R98C	ENST00000013070.6	37	c.292	CCDS9909.1	14	.	.	.	.	.	.	.	.	.	.	C	27.7	4.857664	0.91433	.	.	ENSG00000259066;ENSG00000012963;ENSG00000012963;ENSG00000012963;ENSG00000012963	ENST00000557574;ENST00000013070;ENST00000535646;ENST00000416753;ENST00000554232	D;D;T;D	0.82255	-1.59;-1.59;-1.35;-1.59	6.07	6.07	0.98685	Zinc finger, N-recognin (2);	0.000000	0.85682	D	0.000000	D	0.91202	0.7228	M	0.76574	2.34	0.80722	D	1	D;D	0.76494	0.965;0.999	B;D	0.68353	0.446;0.957	D	0.90490	0.4466	10	0.59425	D	0.04	-18.6689	20.6525	0.99598	0.0:1.0:0.0:0.0	.	22;98	E9PCJ7;Q8N806	.;UBR7_HUMAN	C	117;98;22;22;98	ENSP00000451369:R117C;ENSP00000013070:R98C;ENSP00000391706:R22C;ENSP00000450645:R98C	ENSP00000013070:R98C	R	+	1	0	RP11-371E8.4;UBR7	92746754	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.209000	0.58493	2.890000	0.99128	0.585000	0.79938	CGT	UBR7	-	pfam_Znf_N-recognin,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	ENSG00000012963		0.294	UBR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR7	HGNC	protein_coding	OTTHUMT00000412693.1	71	0.00	0	C	NM_175748		93677001	93677001	+1	no_errors	ENST00000013070	ensembl	human	known	69_37n	missense	39	37.10	23	SNP	1.000	T
UBTF	7343	genome.wustl.edu	37	17	42288479	42288479	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:42288479C>G	ENST00000302904.4	-	12	1623	c.1131G>C	c.(1129-1131)gaG>gaC	p.E377D	UBTF_ENST00000393606.3_Missense_Mutation_p.E340D|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000529383.1_Missense_Mutation_p.E377D|UBTF_ENST00000343638.5_Missense_Mutation_p.E340D|UBTF_ENST00000533177.1_Missense_Mutation_p.E340D|UBTF_ENST00000526094.1_Missense_Mutation_p.E340D|UBTF_ENST00000527034.1_Missense_Mutation_p.E340D|UBTF_ENST00000436088.1_Missense_Mutation_p.E377D			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	377					chromatin silencing at rDNA (GO:0000183)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		TCAGCATCTTCTCTTCCCCCA	0.657																																						dbGAP											0													103.0	93.0	96.0					17																	42288479		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC042297	CCDS11480.1, CCDS42346.1	17q21.31	2014-03-25			ENSG00000108312	ENSG00000108312			12511	protein-coding gene	gene with protein product		600673				9126496	Standard	NM_001076683		Approved	UBF, NOR-90, UBF1, UBF2	uc010czs.3	P17480	OTTHUMG00000167585	ENST00000302904.4:c.1131G>C	17.37:g.42288479C>G	ENSP00000302640:p.Glu377Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6R8	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,superfamily_ARM-type_fold,smart_HMG_superfamily,pfscan_HMG_superfamily	p.E377D	ENST00000302904.4	37	c.1131	CCDS11480.1	17	.	.	.	.	.	.	.	.	.	.	c	13.89	2.371041	0.42003	.	.	ENSG00000108312	ENST00000343638;ENST00000302904;ENST00000527034;ENST00000533177;ENST00000436088;ENST00000393606;ENST00000526094;ENST00000529383	T;T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95	4.5	3.38	0.38709	High mobility group, superfamily (1);	0.126422	0.52532	D	0.000068	T	0.29126	0.0724	L	0.32530	0.975	0.34348	D	0.689536	B;B;B	0.18741	0.016;0.005;0.03	B;B;B	0.20384	0.029;0.007;0.021	T	0.28459	-1.0043	10	0.34782	T	0.22	-35.0742	7.6185	0.28171	0.0:0.7107:0.0:0.2893	.	340;340;377	E9PKP7;P17480-2;P17480	.;.;UBF1_HUMAN	D	340;377;340;340;377;340;340;377	ENSP00000345297:E340D;ENSP00000302640:E377D;ENSP00000431539:E340D;ENSP00000437180:E340D;ENSP00000390669:E377D;ENSP00000377231:E340D;ENSP00000432925:E340D;ENSP00000435708:E377D	ENSP00000302640:E377D	E	-	3	2	UBTF	39644005	0.849000	0.29639	1.000000	0.80357	0.985000	0.73830	-0.048000	0.11944	0.920000	0.36970	0.491000	0.48974	GAG	UBTF	-	superfamily_HMG_superfamily,superfamily_ARM-type_fold	ENSG00000108312		0.657	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UBTF	HGNC	protein_coding	OTTHUMT00000395205.1	53	0.00	0	C	NM_014233		42288479	42288479	-1	no_errors	ENST00000302904	ensembl	human	known	69_37n	missense	26	27.78	10	SNP	1.000	G
UBXN10	127733	genome.wustl.edu	37	1	20517545	20517545	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:20517545G>C	ENST00000375099.3	+	2	575	c.491G>C	c.(490-492)aGa>aCa	p.R164T		NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	164										endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						GAAGATTCCAGAGCTCGAGCT	0.527																																						dbGAP											0													57.0	61.0	60.0					1																	20517545		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK058158	CCDS205.1	1p36.13	2008-07-25	2008-07-25	2008-07-25	ENSG00000162543	ENSG00000162543		"""UBX domain containing"""	26354	protein-coding gene	gene with protein product			"""UBX domain containing 3"""	UBXD3		12477932	Standard	NM_152376		Approved	FLJ25429	uc001bdb.3	Q96LJ8	OTTHUMG00000002708	ENST00000375099.3:c.491G>C	1.37:g.20517545G>C	ENSP00000364240:p.Arg164Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5R386	Missense_Mutation	SNP	pfam_UBX,smart_UBX,pfscan_UBX	p.R164T	ENST00000375099.3	37	c.491	CCDS205.1	1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.053825	0.36277	.	.	ENSG00000162543	ENST00000375099	.	.	.	4.66	3.74	0.42951	.	0.564318	0.15476	N	0.260346	T	0.51092	0.1654	M	0.62723	1.935	0.29856	N	0.828018	P	0.48162	0.906	P	0.46585	0.521	T	0.55134	-0.8188	9	0.72032	D	0.01	-16.2888	11.6422	0.51240	0.0879:0.0:0.9121:0.0	.	164	Q96LJ8	UBX10_HUMAN	T	164	.	ENSP00000364240:R164T	R	+	2	0	UBXN10	20390132	0.000000	0.05858	0.873000	0.34254	0.403000	0.30841	0.730000	0.26043	1.172000	0.42781	0.591000	0.81541	AGA	UBXN10	-	NULL	ENSG00000162543		0.527	UBXN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBXN10	HGNC	protein_coding	OTTHUMT00000007693.1	53	0.00	0	G	NM_152376		20517545	20517545	+1	no_errors	ENST00000375099	ensembl	human	known	69_37n	missense	52	25.71	18	SNP	0.534	C
UBXN2B	137886	genome.wustl.edu	37	8	59343144	59343144	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:59343144G>A	ENST00000399598.2	+	3	377	c.255G>A	c.(253-255)gtG>gtA	p.V85V	UBXN2B_ENST00000522978.1_3'UTR	NM_001077619.1	NP_001071087.1	Q14CS0	UBX2B_HUMAN	UBX domain protein 2B	85						endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						GGAAAATTGTGAATGAACTTT	0.363																																						dbGAP											0													68.0	65.0	66.0					8																	59343144		1838	4097	5935	-	-	-	SO:0001819	synonymous_variant	0			AK054658	CCDS43741.1	8q12.1	2008-08-08			ENSG00000215114	ENSG00000215114		"""UBX domain containing"""	27035	protein-coding gene	gene with protein product		610686				8619474, 9110174	Standard	NM_001077619		Approved	p37	uc003xtl.3	Q14CS0	OTTHUMG00000164300	ENST00000399598.2:c.255G>A	8.37:g.59343144G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWZ3	Missense_Mutation	SNP	pfam_SEP_domain,superfamily_SEP_domain,smart_SEP_domain	p.E31K	ENST00000399598.2	37	c.91	CCDS43741.1	8	.	.	.	.	.	.	.	.	.	.	G	10.06	1.247184	0.22796	.	.	ENSG00000215114	ENST00000521796	.	.	.	6.04	5.16	0.70880	.	.	.	.	.	T	0.59101	0.2169	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58002	-0.7713	4	.	.	.	-19.3374	8.1621	0.31204	0.0787:0.0:0.7268:0.1945	.	.	.	.	K	31	.	.	E	+	1	0	UBXN2B	59505698	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.216000	0.51176	1.561000	0.49584	0.561000	0.74099	GAA	UBXN2B	-	NULL	ENSG00000215114		0.363	UBXN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBXN2B	HGNC	protein_coding	OTTHUMT00000378184.1	75	0.00	0	G	NM_001077619		59343144	59343144	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000521796	ensembl	human	putative	69_37n	missense	56	23.29	17	SNP	1.000	A
UBXN2B	137886	genome.wustl.edu	37	8	59358548	59358548	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:59358548G>A	ENST00000399598.2	+	7	876	c.754G>A	c.(754-756)Gat>Aat	p.D252N		NM_001077619.1	NP_001071087.1	Q14CS0	UBX2B_HUMAN	UBX domain protein 2B	252	UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.					endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)		p.D252N(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						TCTTATTGATGATTCAGTGCC	0.363																																						dbGAP											1	Substitution - Missense(1)	ovary(1)											139.0	122.0	127.0					8																	59358548		1858	4090	5948	-	-	-	SO:0001583	missense	0			AK054658	CCDS43741.1	8q12.1	2008-08-08			ENSG00000215114	ENSG00000215114		"""UBX domain containing"""	27035	protein-coding gene	gene with protein product		610686				8619474, 9110174	Standard	NM_001077619		Approved	p37	uc003xtl.3	Q14CS0	OTTHUMG00000164300	ENST00000399598.2:c.754G>A	8.37:g.59358548G>A	ENSP00000382507:p.Asp252Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWZ3	Missense_Mutation	SNP	pfam_SEP_domain,pfam_UBX,superfamily_SEP_domain,smart_SEP_domain,smart_UBX,pfscan_UBX	p.D252N	ENST00000399598.2	37	c.754	CCDS43741.1	8	.	.	.	.	.	.	.	.	.	.	G	28.0	4.886211	0.91814	.	.	ENSG00000215114	ENST00000399598	T	0.44881	0.91	5.3	5.3	0.74995	UBX (2);	0.000000	0.46145	U	0.000302	T	0.52451	0.1735	L	0.54965	1.715	0.51233	D	0.999917	P	0.43938	0.822	P	0.51055	0.657	T	0.46512	-0.9186	10	0.41790	T	0.15	1.0629	17.5613	0.87908	0.0:0.0:1.0:0.0	.	252	Q14CS0	UBX2B_HUMAN	N	252	ENSP00000382507:D252N	ENSP00000382507:D252N	D	+	1	0	UBXN2B	59521102	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.499000	0.53310	2.670000	0.90874	0.650000	0.86243	GAT	UBXN2B	-	smart_UBX,pfscan_UBX	ENSG00000215114		0.363	UBXN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBXN2B	HGNC	protein_coding	OTTHUMT00000378184.1	165	0.00	0	G	NM_001077619		59358548	59358548	+1	no_errors	ENST00000399598	ensembl	human	known	69_37n	missense	151	12.21	21	SNP	1.000	A
UBXN7	26043	genome.wustl.edu	37	3	196089178	196089178	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:196089178C>T	ENST00000296328.4	-	9	1289	c.1215G>A	c.(1213-1215)ggG>ggA	p.G405G	UBXN7_ENST00000535858.1_Silent_p.G257G|UBXN7_ENST00000428095.1_Silent_p.G243G	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	405						Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|nucleus (GO:0005634)	transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						TTACATCTATCCCCTCCACTA	0.463																																						dbGAP											0													141.0	129.0	133.0					3																	196089178		1925	4126	6051	-	-	-	SO:0001819	synonymous_variant	0			AB018337	CCDS43191.1	3q29	2012-07-06	2008-07-25	2008-07-25	ENSG00000163960	ENSG00000163960		"""UBX domain containing"""	29119	protein-coding gene	gene with protein product			"""UBX domain containing 7"""	UBXD7		9872452, 22537386	Standard	NM_015562		Approved	KIAA0794	uc003fwm.4	O94888	OTTHUMG00000155639	ENST00000296328.4:c.1215G>A	3.37:g.196089178C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DXB3|Q6ZP77|Q86X20|Q8N327	Silent	SNP	pfam_UBX,superfamily_UBA-like,smart_UAS,smart_UBX,pirsf_UCP037991_UAS/UBX,pfscan_UBX	p.G405	ENST00000296328.4	37	c.1215	CCDS43191.1	3																																																																																			UBXN7	-	smart_UBX,pirsf_UCP037991_UAS/UBX	ENSG00000163960		0.463	UBXN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBXN7	HGNC	protein_coding	OTTHUMT00000340938.2	88	0.00	0	C	XM_087353		196089178	196089178	-1	no_errors	ENST00000296328	ensembl	human	known	69_37n	silent	92	19.30	22	SNP	0.140	T
UCHL1	7345	genome.wustl.edu	37	4	41262732	41262732	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:41262732C>T	ENST00000284440.4	+	4	387	c.243C>T	c.(241-243)ttC>ttT	p.F81F	UCHL1_ENST00000512788.1_Silent_p.F81F|UCHL1_ENST00000504818.1_3'UTR|UCHL1_ENST00000508768.1_Silent_p.F81F|UCHL1_ENST00000503431.1_Silent_p.F81F	NM_004181.4	NP_004172.2	P09936	UCHL1_HUMAN	ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)	81					adult walking behavior (GO:0007628)|axon target recognition (GO:0007412)|axon transport of mitochondrion (GO:0019896)|cell death (GO:0008219)|cell proliferation (GO:0008283)|eating behavior (GO:0042755)|muscle fiber development (GO:0048747)|negative regulation of MAP kinase activity (GO:0043407)|neuromuscular process (GO:0050905)|protein deubiquitination (GO:0016579)|response to ischemia (GO:0002931)|sensory perception of pain (GO:0019233)|ubiquitin-dependent protein catabolic process (GO:0006511)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	alpha-2A adrenergic receptor binding (GO:0031694)|cysteine-type endopeptidase activity (GO:0004197)|ligase activity (GO:0016874)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(2)	8						AAGTGTACTTCATGAAGCAGA	0.428																																						dbGAP											0													157.0	148.0	151.0					4																	41262732		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC000332	CCDS3462.1	4p13	2011-07-21			ENSG00000154277	ENSG00000154277	3.4.19.12	"""Parkinson disease"""	12513	protein-coding gene	gene with protein product		191342		PARK5		1840236	Standard	NM_004181		Approved	PGP9.5, Uch-L1	uc003gvo.3	P09936	OTTHUMG00000099377	ENST00000284440.4:c.243C>T	4.37:g.41262732C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W5K6|Q71UM0	Silent	SNP	pfam_Peptidase_C12,prints_Peptidase_C12	p.F81	ENST00000284440.4	37	c.243	CCDS3462.1	4																																																																																			UCHL1	-	pfam_Peptidase_C12	ENSG00000154277		0.428	UCHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UCHL1	HGNC	protein_coding	OTTHUMT00000216827.1	92	0.00	0	C	NM_004181		41262732	41262732	+1	no_errors	ENST00000284440	ensembl	human	known	69_37n	silent	59	43.81	46	SNP	1.000	T
UCHL1	7345	genome.wustl.edu	37	4	41266170	41266170	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:41266170C>T	ENST00000284440.4	+	8	721	c.577C>T	c.(577-579)Ctg>Ttg	p.L193L	UCHL1_ENST00000512788.1_Silent_p.L193L|UCHL1_ENST00000508768.1_Silent_p.L177L|UCHL1_ENST00000503431.1_Silent_p.L193L	NM_004181.4	NP_004172.2	P09936	UCHL1_HUMAN	ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)	193					adult walking behavior (GO:0007628)|axon target recognition (GO:0007412)|axon transport of mitochondrion (GO:0019896)|cell death (GO:0008219)|cell proliferation (GO:0008283)|eating behavior (GO:0042755)|muscle fiber development (GO:0048747)|negative regulation of MAP kinase activity (GO:0043407)|neuromuscular process (GO:0050905)|protein deubiquitination (GO:0016579)|response to ischemia (GO:0002931)|sensory perception of pain (GO:0019233)|ubiquitin-dependent protein catabolic process (GO:0006511)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	alpha-2A adrenergic receptor binding (GO:0031694)|cysteine-type endopeptidase activity (GO:0004197)|ligase activity (GO:0016874)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(2)	8						AGAGGACACCCTGCTGAAGGT	0.438																																						dbGAP											0													163.0	154.0	157.0					4																	41266170		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC000332	CCDS3462.1	4p13	2011-07-21			ENSG00000154277	ENSG00000154277	3.4.19.12	"""Parkinson disease"""	12513	protein-coding gene	gene with protein product		191342		PARK5		1840236	Standard	NM_004181		Approved	PGP9.5, Uch-L1	uc003gvo.3	P09936	OTTHUMG00000099377	ENST00000284440.4:c.577C>T	4.37:g.41266170C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W5K6|Q71UM0	Silent	SNP	pfam_Peptidase_C12,prints_Peptidase_C12	p.L193	ENST00000284440.4	37	c.577	CCDS3462.1	4																																																																																			UCHL1	-	pfam_Peptidase_C12	ENSG00000154277		0.438	UCHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UCHL1	HGNC	protein_coding	OTTHUMT00000216827.1	78	0.00	0	C	NM_004181		41266170	41266170	+1	no_errors	ENST00000284440	ensembl	human	known	69_37n	silent	64	16.88	13	SNP	0.037	T
UCP2	7351	genome.wustl.edu	37	11	73687948	73687948	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:73687948C>G	ENST00000310473.3	-	5	1294	c.452G>C	c.(451-453)gGa>gCa	p.G151A	UCP2_ENST00000542615.1_5'Flank|UCP2_ENST00000536983.1_Missense_Mutation_p.G151A	NM_003355.2	NP_003346.2	P55851	UCP2_HUMAN	uncoupling protein 2 (mitochondrial, proton carrier)	151					aging (GO:0007568)|cellular metabolic process (GO:0044237)|cellular response to amino acid starvation (GO:0034198)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|female pregnancy (GO:0007565)|liver regeneration (GO:0097421)|mitochondrial transport (GO:0006839)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|positive regulation of cell death (GO:0010942)|proton transport (GO:0015992)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to superoxide (GO:0000303)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				large_intestine(1)|lung(3)|prostate(1)	5	Breast(11;0.000112)					CCGACCACCTCCAGCCCGGGC	0.612																																					Colon(191;388 2040 43557 45622 48925)	dbGAP											0													109.0	103.0	105.0					11																	73687948		2200	4293	6493	-	-	-	SO:0001583	missense	0			U76367	CCDS8228.1	11q13	2014-02-12						"""Solute carriers"""	12518	protein-coding gene	gene with protein product		601693	"""body mass index QTL 4"", ""body mass index quantitative trait 4"""	BMIQ4		9196039, 11381268	Standard	NM_003355		Approved	SLC25A8	uc001oup.1	P55851		ENST00000310473.3:c.452G>C	11.37:g.73687948C>G	ENSP00000312029:p.Gly151Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4PJH8|Q53HM3	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling	p.G151A	ENST00000310473.3	37	c.452	CCDS8228.1	11	.	.	.	.	.	.	.	.	.	.	C	11.40	1.628744	0.28978	.	.	ENSG00000175567	ENST00000310473;ENST00000536983;ENST00000544615;ENST00000545212	T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21	5.92	3.93	0.45458	Mitochondrial carrier domain (2);	0.208987	0.49305	D	0.000141	T	0.53334	0.1790	N	0.05306	-0.075	0.44677	D	0.997661	B;B	0.09022	0.002;0.0	B;B	0.14578	0.011;0.008	T	0.45789	-0.9237	10	0.13853	T	0.58	-23.7976	8.9492	0.35779	0.0:0.4969:0.425:0.0781	.	151;151	F5GX45;P55851	.;UCP2_HUMAN	A	151;151;124;35	ENSP00000312029:G151A;ENSP00000441147:G151A;ENSP00000439951:G124A;ENSP00000439706:G35A	ENSP00000312029:G151A	G	-	2	0	UCP2	73365596	0.000000	0.05858	0.999000	0.59377	0.993000	0.82548	0.238000	0.18004	1.499000	0.48617	0.561000	0.74099	GGA	UCP2	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000175567		0.612	UCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UCP2	HGNC	protein_coding	OTTHUMT00000398108.1	49	0.00	0	C	NM_003355		73687948	73687948	-1	no_errors	ENST00000310473	ensembl	human	known	69_37n	missense	39	29.09	16	SNP	0.748	G
UGGT1	56886	genome.wustl.edu	37	2	128944323	128944323	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:128944323G>C	ENST00000259253.6	+	39	4473	c.4426G>C	c.(4426-4428)Gaa>Caa	p.E1476Q	UGGT1_ENST00000375990.3_Missense_Mutation_p.E1452Q	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	1476	Glucosyltransferase. {ECO:0000250}.				'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GCTTTGGTGTGAAACGTGGTG	0.403																																						dbGAP											0													237.0	196.0	210.0					2																	128944323		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.4426G>C	2.37:g.128944323G>C	ENSP00000259253:p.Glu1476Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	pfam_UDP-g_GGtrans	p.E1476Q	ENST00000259253.6	37	c.4426	CCDS2154.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.109380|5.109380	0.94292|0.94292	.|.	.|.	ENSG00000136731|ENSG00000136731	ENST00000375990;ENST00000259253|ENST00000418197	T;T|.	0.22134|.	1.97;1.97|.	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.84933|.	0.5582|.	M|M	0.88031|0.88031	2.925|2.925	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.83275|.	0.996|.	D|.	0.85871|.	0.1416|.	9|.	.|.	.|.	.|.	.|.	19.9142|19.9142	0.97043|0.97043	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1476|.	Q9NYU2|.	UGGG1_HUMAN|.	Q|S	1452;1476|51	ENSP00000365158:E1452Q;ENSP00000259253:E1476Q|.	.|.	E|X	+|+	1|2	0|2	UGGT1|UGGT1	128660793|128660793	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.129000|9.129000	0.94430|0.94430	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAA|TGA	UGGT1	-	NULL	ENSG00000136731		0.403	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGGT1	HGNC	protein_coding	OTTHUMT00000254435.2	143	0.00	0	G	NM_020120		128944323	128944323	+1	no_errors	ENST00000259253	ensembl	human	known	69_37n	missense	137	18.93	32	SNP	1.000	C
UGGT1	56886	genome.wustl.edu	37	2	128947305	128947305	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:128947305G>A	ENST00000259253.6	+	41	4704	c.4657G>A	c.(4657-4659)Gaa>Aaa	p.E1553K	UGGT1_ENST00000375990.3_Missense_Mutation_p.E1529K|UGGT1_ENST00000465836.1_3'UTR	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	1553	Glucosyltransferase. {ECO:0000250}.				'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TCAGAAACGTGAAGAATTATG	0.368																																						dbGAP											0													141.0	125.0	130.0					2																	128947305		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.4657G>A	2.37:g.128947305G>A	ENSP00000259253:p.Glu1553Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	pfam_UDP-g_GGtrans	p.E1553K	ENST00000259253.6	37	c.4657	CCDS2154.1	2	.	.	.	.	.	.	.	.	.	.	G	21.3	4.121652	0.77436	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.08458	3.1;3.09	5.8	4.92	0.64577	.	0.257419	0.32884	N	0.005536	T	0.05868	0.0153	N	0.14661	0.345	0.31126	N	0.708322	B	0.20261	0.043	B	0.19391	0.025	T	0.14309	-1.0477	9	.	.	.	.	14.0876	0.64968	0.0:0.1503:0.8497:0.0	.	1553	Q9NYU2	UGGG1_HUMAN	K	1529;1553	ENSP00000365158:E1529K;ENSP00000259253:E1553K	.	E	+	1	0	UGGT1	128663775	1.000000	0.71417	0.701000	0.30321	0.909000	0.53808	5.323000	0.65858	1.459000	0.47892	0.563000	0.77884	GAA	UGGT1	-	NULL	ENSG00000136731		0.368	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGGT1	HGNC	protein_coding	OTTHUMT00000254435.2	225	0.00	0	G	NM_020120		128947305	128947305	+1	no_errors	ENST00000259253	ensembl	human	known	69_37n	missense	169	21.40	46	SNP	0.888	A
UGGT2	55757	genome.wustl.edu	37	13	96489359	96489359	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr13:96489359C>G	ENST00000376747.3	-	37	4452	c.4382G>C	c.(4381-4383)aGa>aCa	p.R1461T		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	1461	Glucosyltransferase.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TGTTTTGGCTCTTTGTTTGGA	0.358																																						dbGAP											0													163.0	145.0	152.0					13																	96489359		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"""UDP-glucose:glycoprotein glucosyltransferase 2"""	605898	"""UDP-glucose ceramide glucosyltransferase-like 2"""	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.4382G>C	13.37:g.96489359C>G	ENSP00000365938:p.Arg1461Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	pfam_UDP-g_GGtrans,pfam_Glyco_trans_8	p.R1461T	ENST00000376747.3	37	c.4382	CCDS9480.1	13	.	.	.	.	.	.	.	.	.	.	C	8.840	0.941986	0.18281	.	.	ENSG00000102595	ENST00000376747	T	0.21361	2.01	5.65	5.65	0.86999	.	0.404330	0.29853	N	0.011022	T	0.08537	0.0212	N	0.04805	-0.155	0.80722	D	1	B	0.13594	0.008	B	0.20184	0.028	T	0.26087	-1.0113	10	0.06625	T	0.88	-11.5755	7.7141	0.28694	0.0:0.8059:0.0:0.1941	.	1461	Q9NYU1	UGGG2_HUMAN	T	1461	ENSP00000365938:R1461T	ENSP00000365938:R1461T	R	-	2	0	UGGT2	95287360	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.309000	0.33539	2.821000	0.97095	0.561000	0.74099	AGA	UGGT2	-	NULL	ENSG00000102595		0.358	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGGT2	HGNC	protein_coding	OTTHUMT00000045507.1	185	0.00	0	C	NM_020121		96489359	96489359	-1	no_errors	ENST00000376747	ensembl	human	known	69_37n	missense	178	14.42	30	SNP	0.997	G
UGP2	7360	genome.wustl.edu	37	2	64113526	64113526	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:64113526C>G	ENST00000337130.5	+	7	1401	c.925C>G	c.(925-927)Caa>Gaa	p.Q309E	UGP2_ENST00000487469.1_3'UTR|UGP2_ENST00000445915.2_Missense_Mutation_p.Q318E|UGP2_ENST00000394417.2_Missense_Mutation_p.Q298E|UGP2_ENST00000467648.2_Missense_Mutation_p.Q298E	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	309					carbohydrate metabolic process (GO:0005975)|cellular glucuronidation (GO:0052695)|glucose 1-phosphate metabolic process (GO:0019255)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	glucose binding (GO:0005536)|metal ion binding (GO:0046872)|pyrimidine ribonucleotide binding (GO:0032557)|UTP:glucose-1-phosphate uridylyltransferase activity (GO:0003983)			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						GGAAATTGCTCAAGTGCCAAA	0.408																																						dbGAP											0													174.0	174.0	174.0					2																	64113526		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1875.1, CCDS42690.1	2p14-p13	2012-10-02			ENSG00000169764	ENSG00000169764	2.7.7.9		12527	protein-coding gene	gene with protein product		191760	"""UDP-glucose pyrophosphorylase 1"""	UGP1			Standard	NM_006759		Approved	UGPP1	uc002scm.3	Q16851	OTTHUMG00000129513	ENST00000337130.5:c.925C>G	2.37:g.64113526C>G	ENSP00000338703:p.Gln309Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q07131|Q0P6K2|Q86Y81|Q9BU15	Missense_Mutation	SNP	pfam_UDPGP_trans,pirsf_UDPGP_trans_subgr	p.Q309E	ENST00000337130.5	37	c.925	CCDS1875.1	2	.	.	.	.	.	.	.	.	.	.	C	24.4	4.526823	0.85706	.	.	ENSG00000169764	ENST00000394417;ENST00000467648;ENST00000337130;ENST00000445915	T;T;T;T	0.13420	2.59;2.59;2.59;2.59	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.40040	0.1101	M	0.91768	3.24	0.80722	D	1	D;D	0.54047	0.964;0.964	P;P	0.50825	0.577;0.651	T	0.47548	-0.9109	10	0.62326	D	0.03	-26.7405	20.6593	0.99626	0.0:1.0:0.0:0.0	.	318;309	E7EUC7;Q16851	.;UGPA_HUMAN	E	298;298;309;318	ENSP00000377939:Q298E;ENSP00000420793:Q298E;ENSP00000338703:Q309E;ENSP00000411803:Q318E	ENSP00000338703:Q309E	Q	+	1	0	UGP2	63967030	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.800000	0.85949	2.885000	0.99019	0.655000	0.94253	CAA	UGP2	-	pfam_UDPGP_trans,pirsf_UDPGP_trans_subgr	ENSG00000169764		0.408	UGP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGP2	HGNC	protein_coding	OTTHUMT00000251688.1	107	0.00	0	C	NM_006759		64113526	64113526	+1	no_errors	ENST00000337130	ensembl	human	known	69_37n	missense	92	24.59	30	SNP	1.000	G
UGT1A1	54658	genome.wustl.edu	37	2	234527048	234527048	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:234527048C>G	ENST00000373450.4	+	1	758	c.695C>G	c.(694-696)tCt>tGt	p.S232C		NM_019076.4	NP_061949.3	P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	235					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	GAAATAGCCTCTGAAATTCTC	0.423																																						dbGAP											0													247.0	259.0	255.0					2																	234527048		2203	4300	6503	-	-	-	SO:0001583	missense	0			M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"""UDP glucuronosyltransferases"""	12530	other	complex locus constituent		191740	"""UDP glycosyltransferase 1 family, polypeptide A1"""	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000373450.4:c.695C>G	2.37:g.234527048C>G	ENSP00000362549:p.Ser232Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJC3|B8K286	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.S232C	ENST00000373450.4	37	c.695	CCDS33402.1	2	.	.	.	.	.	.	.	.	.	.	C	12.21	1.869544	0.32977	.	.	ENSG00000242366	ENST00000373450	T	0.66995	-0.24	3.96	2.99	0.34606	.	.	.	.	.	D	0.85150	0.5631	M	0.92833	3.35	0.23724	N	0.997012	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.75687	-0.3231	9	0.87932	D	0	.	14.2027	0.65714	0.0:0.8493:0.1507:0.0	.	232;232	Q5DSZ6;Q9HAW9	.;UD18_HUMAN	C	232	ENSP00000362549:S232C	ENSP00000362549:S232C	S	+	2	0	UGT1A8	234191787	0.767000	0.28508	0.997000	0.53966	0.332000	0.28634	1.589000	0.36644	2.226000	0.72624	0.505000	0.49811	TCT	UGT1A8	-	pfam_UDP_glucos_trans	ENSG00000242366		0.423	UGT1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UGT1A8	HGNC	protein_coding	OTTHUMT00000130994.1	191	0.00	0	C			234527048	234527048	+1	no_errors	ENST00000373450	ensembl	human	known	69_37n	missense	125	20.89	33	SNP	0.606	G
UGT1A6	54578	genome.wustl.edu	37	2	234601797	234601797	+	Silent	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:234601797C>A	ENST00000305139.6	+	1	286	c.147C>A	c.(145-147)ctC>ctA	p.L49L	UGT1A6_ENST00000406651.1_5'Flank|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A1_ENST00000609637.1_Intron|AC114812.8_ENST00000439336.1_RNA|UGT1A1_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6	49					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313)	TTGAGGTTCTCAGTGACCGGG	0.458																																						dbGAP											0													88.0	87.0	87.0					2																	234601797		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M84130	CCDS2507.1, CCDS2508.1	2q37	2010-03-05	2005-07-20		ENSG00000167165	ENSG00000167165		"""UDP glucuronosyltransferases"""	12538	other	complex locus constituent		606431	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 1339448	Standard	NM_001072		Approved	HLUGP, GNT1, UGT1F		P19224	OTTHUMG00000059122	ENST00000305139.6:c.147C>A	2.37:g.234601797C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKK6|B8K289|Q96TE7	Silent	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.L49	ENST00000305139.6	37	c.147	CCDS2507.1	2																																																																																			UGT1A6	-	pfam_UDP_glucos_trans	ENSG00000167165		0.458	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT1A6	HGNC	protein_coding	OTTHUMT00000130988.1	61	0.00	0	C	NM_205862		234601797	234601797	+1	no_errors	ENST00000305139	ensembl	human	known	69_37n	silent	75	11.76	10	SNP	0.001	A
UGT1A3	54659	genome.wustl.edu	37	2	234638624	234638624	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:234638624G>C	ENST00000482026.1	+	1	871	c.852G>C	c.(850-852)agG>agC	p.R284S	UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000609767.1_Missense_Mutation_p.R284S|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron			P35503	UD13_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A3	284					cellular glucuronidation (GO:0052695)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|UDP-glycosyltransferase activity (GO:0008194)			breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)	Atorvastatin(DB01076)|Candesartan(DB00796)|Cyproheptadine(DB00434)|Eltrombopag(DB06210)|Etodolac(DB00749)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Irbesartan(DB01029)|Lamotrigine(DB00555)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Pitavastatin(DB08860)|Simvastatin(DB00641)|Valproic Acid(DB00313)	GTGCCAACAGGAAGCCACTAT	0.433																																						dbGAP											0													89.0	93.0	91.0					2																	234638624		2202	4300	6502	-	-	-	SO:0001583	missense	0			M84127	CCDS2509.1	2q37	2010-03-05	2005-07-20		ENSG00000243135	ENSG00000243135		"""UDP glucuronosyltransferases"""	12535	other	complex locus constituent		606428	"""UDP glycosyltransferase 1 family, polypeptide A3"""			9295054, 1339448, 11434514	Standard	NM_019093		Approved	UGT1C		P35503	OTTHUMG00000059118	ENST00000482026.1:c.852G>C	2.37:g.234638624G>C	ENSP00000418532:p.Arg284Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B8K287	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.R284S	ENST00000482026.1	37	c.852	CCDS2509.1	2	.	.	.	.	.	.	.	.	.	.	g	8.853	0.945175	0.18356	.	.	ENSG00000243135	ENST00000482026	T	0.59638	0.25	4.0	1.07	0.20283	.	.	.	.	.	T	0.51227	0.1662	L	0.31845	0.965	0.09310	N	0.999999	B;B	0.24651	0.108;0.108	B;B	0.41088	0.347;0.347	T	0.55166	-0.8183	9	0.56958	D	0.05	.	5.5037	0.16842	0.2979:0.1657:0.5364:0.0	.	284;284	Q5DT01;P35503	.;UD13_HUMAN	S	284	ENSP00000418532:R284S	ENSP00000418532:R284S	R	+	3	2	UGT1A3	234303363	0.009000	0.17119	0.993000	0.49108	0.959000	0.62525	0.990000	0.29642	0.627000	0.30340	0.454000	0.30748	AGG	UGT1A3	-	pfam_UDP_glucos_trans	ENSG00000243135		0.433	UGT1A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	UGT1A3	HGNC	protein_coding	OTTHUMT00000130983.1	87	0.00	0	G	NM_019093		234638624	234638624	+1	no_errors	ENST00000482026	ensembl	human	known	69_37n	missense	101	11.54	18	SNP	0.057	C
UGT2B10	7365	genome.wustl.edu	37	4	69683767	69683767	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:69683767G>C	ENST00000265403.7	+	2	766	c.739G>C	c.(739-741)Gag>Cag	p.E247Q	UGT2B10_ENST00000458688.2_Missense_Mutation_p.E163Q	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	247					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TACATTATCTGAGACAATGAG	0.343																																					Melanoma(133;755 1763 25578 26334 46021)	dbGAP											0													110.0	113.0	112.0					4																	69683767		2202	4299	6501	-	-	-	SO:0001583	missense	0			X63359	CCDS75135.1, CCDS75136.1	4q13.3	2008-02-05	2005-07-20			ENSG00000109181		"""UDP glucuronosyltransferases"""	12544	protein-coding gene	gene with protein product		600070	"""UDP glycosyltransferase 2 family, polypeptide B10"""			8333863	Standard	NM_001075		Approved		uc003hee.3	P36537		ENST00000265403.7:c.739G>C	4.37:g.69683767G>C	ENSP00000265403:p.Glu247Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9M3|B4DPP1|Q14CR8	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.E247Q	ENST00000265403.7	37	c.739		4	.	.	.	.	.	.	.	.	.	.	g	11.86	1.765271	0.31228	.	.	ENSG00000109181	ENST00000265403;ENST00000458688	T;T	0.62498	0.02;0.02	2.66	2.66	0.31614	.	0.146929	0.43110	U	0.000619	T	0.67373	0.2886	M	0.84219	2.685	0.21445	N	0.999684	P;P	0.43094	0.588;0.799	P;P	0.45506	0.483;0.483	T	0.63883	-0.6536	10	0.72032	D	0.01	.	10.7681	0.46305	0.0:0.0:1.0:0.0	.	163;247	B4DPP1;P36537	.;UDB10_HUMAN	Q	247;163	ENSP00000265403:E247Q;ENSP00000413420:E163Q	ENSP00000265403:E247Q	E	+	1	0	UGT2B10	69718356	1.000000	0.71417	0.005000	0.12908	0.014000	0.08584	3.306000	0.51881	1.317000	0.45149	0.184000	0.17185	GAG	UGT2B10	-	pfam_UDP_glucos_trans	ENSG00000109181		0.343	UGT2B10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal	protein_coding	UGT2B10	HGNC	protein_coding	OTTHUMT00000365169.1	196	0.00	0	G	NM_001075		69683767	69683767	+1	no_errors	ENST00000265403	ensembl	human	known	69_37n	missense	136	18.56	31	SNP	0.609	C
UGT2B7	7364	genome.wustl.edu	37	4	69962845	69962845	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:69962845G>A	ENST00000508661.1	+	1	634	c.607G>A	c.(607-609)Gat>Aat	p.D203N	UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000305231.7_Missense_Mutation_p.D203N			P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	203					androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	AGAATTAACTGATCAAATGAC	0.368																																						dbGAP											0													100.0	98.0	99.0					4																	69962845		2202	4299	6501	-	-	-	SO:0001583	missense	0			BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"""UDP glucuronosyltransferases"""	12554	protein-coding gene	gene with protein product		600068	"""UDP glycosyltransferase 2 family, polypeptide B7"""			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000508661.1:c.607G>A	4.37:g.69962845G>A	ENSP00000427659:p.Asp203Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R810|Q6GTW0	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.D203N	ENST00000508661.1	37	c.607		4	.	.	.	.	.	.	.	.	.	.	G	18.31	3.594851	0.66219	.	.	ENSG00000171234	ENST00000305231;ENST00000508661	T;T	0.66815	-0.23;-0.23	2.54	2.54	0.30619	.	0.000000	0.64402	U	0.000005	D	0.82508	0.5052	M	0.90252	3.1	0.30764	N	0.743799	D;D	0.89917	1.0;0.991	D;D	0.91635	0.999;0.969	T	0.81920	-0.0712	9	.	.	.	.	10.7765	0.46353	0.0:0.0:1.0:0.0	.	203;203	E9PBP8;P16662	.;UD2B7_HUMAN	N	203	ENSP00000304811:D203N;ENSP00000427659:D203N	.	D	+	1	0	UGT2B7	69997434	1.000000	0.71417	0.047000	0.18901	0.094000	0.18550	6.803000	0.75180	1.408000	0.46895	0.313000	0.20887	GAT	UGT2B7	-	pfam_UDP_glucos_trans	ENSG00000171234		0.368	UGT2B7-002	PUTATIVE	basic|exp_conf	protein_coding	UGT2B7	HGNC	protein_coding	OTTHUMT00000362103.1	156	0.00	0	G	NM_001074		69962845	69962845	+1	no_errors	ENST00000305231	ensembl	human	known	69_37n	missense	111	22.38	32	SNP	0.865	A
UGT8	7368	genome.wustl.edu	37	4	115544064	115544064	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:115544064C>G	ENST00000310836.6	+	2	550	c.28C>G	c.(28-30)Ctc>Gtc	p.L10V	UGT8_ENST00000394511.3_Missense_Mutation_p.L10V	NM_001128174.1	NP_001121646	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	10					axon cargo transport (GO:0008088)|central nervous system development (GO:0007417)|cytoskeleton organization (GO:0007010)|galactosylceramide biosynthetic process (GO:0006682)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to paranode region of axon (GO:0002175)	integral component of membrane (GO:0016021)	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity (GO:0003851)|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity (GO:0008489)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		ATATTTCATTCTCCTGTGGAG	0.393																																						dbGAP											0													68.0	67.0	67.0					4																	115544064		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK127970	CCDS3705.1	4q26	2013-02-21	2008-07-31	2005-07-20	ENSG00000174607	ENSG00000174607	2.4.1.45	"""UDP glucuronosyltransferases"""	12555	protein-coding gene	gene with protein product	"""2-hydroxyacylsphingosine 1-beta-galactosyltransferase"""	601291	"""UDP-galactose ceramide galactosyltransferase"""	CGT		8661025	Standard	NM_003360		Approved		uc003ibs.2	Q16880	OTTHUMG00000132915	ENST00000310836.6:c.28C>G	4.37:g.115544064C>G	ENSP00000311648:p.Leu10Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXU7|O00196	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.L10V	ENST00000310836.6	37	c.28	CCDS3705.1	4	.	.	.	.	.	.	.	.	.	.	C	14.07	2.425445	0.43020	.	.	ENSG00000174607	ENST00000310836;ENST00000507710;ENST00000394511	T;T;T	0.62941	-0.01;1.87;-0.01	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.37100	0.0991	N	0.08118	0	0.41906	D	0.99044	P	0.40970	0.734	B	0.28916	0.096	T	0.44667	-0.9313	10	0.44086	T	0.13	.	13.2199	0.59881	0.0:0.9273:0.0:0.0727	.	10	Q16880	CGT_HUMAN	V	10	ENSP00000311648:L10V;ENSP00000421446:L10V;ENSP00000378019:L10V	ENSP00000311648:L10V	L	+	1	0	UGT8	115763513	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	2.844000	0.48246	2.728000	0.93425	0.650000	0.86243	CTC	UGT8	-	NULL	ENSG00000174607		0.393	UGT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT8	HGNC	protein_coding	OTTHUMT00000256426.2	82	0.00	0	C	NM_003360		115544064	115544064	+1	no_errors	ENST00000310836	ensembl	human	known	69_37n	missense	62	20.51	16	SNP	0.999	G
UGT8	7368	genome.wustl.edu	37	4	115544204	115544204	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:115544204C>G	ENST00000310836.6	+	2	690	c.168C>G	c.(166-168)ctC>ctG	p.L56L	UGT8_ENST00000394511.3_Silent_p.L56L	NM_001128174.1	NP_001121646	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	56					axon cargo transport (GO:0008088)|central nervous system development (GO:0007417)|cytoskeleton organization (GO:0007010)|galactosylceramide biosynthetic process (GO:0006682)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to paranode region of axon (GO:0002175)	integral component of membrane (GO:0016021)	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity (GO:0003851)|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity (GO:0008489)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		TGTTCCTCCTCTCTGAAGGCA	0.493																																						dbGAP											0													109.0	98.0	102.0					4																	115544204		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK127970	CCDS3705.1	4q26	2013-02-21	2008-07-31	2005-07-20	ENSG00000174607	ENSG00000174607	2.4.1.45	"""UDP glucuronosyltransferases"""	12555	protein-coding gene	gene with protein product	"""2-hydroxyacylsphingosine 1-beta-galactosyltransferase"""	601291	"""UDP-galactose ceramide galactosyltransferase"""	CGT		8661025	Standard	NM_003360		Approved		uc003ibs.2	Q16880	OTTHUMG00000132915	ENST00000310836.6:c.168C>G	4.37:g.115544204C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXU7|O00196	Silent	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.L56	ENST00000310836.6	37	c.168	CCDS3705.1	4																																																																																			UGT8	-	pfam_UDP_glucos_trans	ENSG00000174607		0.493	UGT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT8	HGNC	protein_coding	OTTHUMT00000256426.2	105	0.00	0	C	NM_003360		115544204	115544204	+1	no_errors	ENST00000310836	ensembl	human	known	69_37n	silent	82	25.45	28	SNP	1.000	G
UHRF1	29128	genome.wustl.edu	37	19	4947193	4947193	+	RNA	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:4947193C>G	ENST00000592666.1	+	0	2063							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|histone monoubiquitination (GO:0010390)|histone ubiquitination (GO:0016574)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|replication fork (GO:0005657)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|hemi-methylated DNA-binding (GO:0044729)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		GCGGAACAGTCTTGTGATCAG	0.483																																						dbGAP											0													134.0	135.0	134.0					19																	4947193		1942	4130	6072	-	-	-			0			AF129507	CCDS74262.1, CCDS74263.1	19p13.3	2012-04-20	2008-08-14		ENSG00000034063	ENSG00000276043		"""RING-type (C3HC4) zinc fingers"""	12556	protein-coding gene	gene with protein product		607990				10646863	Standard	NM_001048201		Approved	ICBP90, Np95, FLJ21925, RNF106	uc002mbo.3	Q96T88			19.37:g.4947193C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A0JBR2|A8K024|B2RBA9|Q2HIX7|Q8J022|Q9H6S6|Q9P115|Q9P1U7	RNA	SNP	-	NULL	ENST00000592666.1	37	NULL		19	.	.	.	.	.	.	.	.	.	.	C	15.71	2.915306	0.52546	.	.	ENSG00000034063	ENST00000262952;ENST00000396708;ENST00000455180;ENST00000543616;ENST00000398240	.	.	.	4.7	4.7	0.59300	SRA-YDG (4);	0.000000	0.85682	D	0.000000	T	0.79118	0.4392	M	0.75447	2.3	0.53688	D	0.999972	D;P	0.89917	1.0;0.626	D;B	0.81914	0.995;0.252	T	0.81818	-0.0758	8	0.59425	D	0.04	-10.1719	17.6473	0.88152	0.0:1.0:0.0:0.0	.	509;496	Q2HIX7;Q96T88	.;UHRF1_HUMAN	C	496;111;496;496;509	.	ENSP00000262952:S496C	S	+	2	0	UHRF1	4898193	1.000000	0.71417	0.847000	0.33407	0.478000	0.33099	7.733000	0.84916	2.166000	0.68216	0.455000	0.32223	TCT	UHRF1	-	-	ENSG00000034063		0.483	UHRF1-006	KNOWN	sequence_error|basic	processed_transcript	UHRF1	HGNC	processed_transcript	OTTHUMT00000450444.1	84	0.00	0	C	NM_001048201		4947193	4947193	+1	no_errors	ENST00000262952	ensembl	human	known	69_37n	rna	72	19.10	17	SNP	1.000	G
UHRF1	29128	genome.wustl.edu	37	19	4956731	4956731	+	RNA	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:4956731C>A	ENST00000592666.1	+	0	2717							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|histone monoubiquitination (GO:0010390)|histone ubiquitination (GO:0016574)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|replication fork (GO:0005657)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|hemi-methylated DNA-binding (GO:0044729)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		TCCAGTTGTTCCTGAGTAAAG	0.582																																						dbGAP											0													63.0	61.0	62.0					19																	4956731		2004	4157	6161	-	-	-			0			AF129507	CCDS74262.1, CCDS74263.1	19p13.3	2012-04-20	2008-08-14		ENSG00000034063	ENSG00000276043		"""RING-type (C3HC4) zinc fingers"""	12556	protein-coding gene	gene with protein product		607990				10646863	Standard	NM_001048201		Approved	ICBP90, Np95, FLJ21925, RNF106	uc002mbo.3	Q96T88			19.37:g.4956731C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A0JBR2|A8K024|B2RBA9|Q2HIX7|Q8J022|Q9H6S6|Q9P115|Q9P1U7	RNA	SNP	-	NULL	ENST00000592666.1	37	NULL		19	.	.	.	.	.	.	.	.	.	.	C	13.15	2.152389	0.38021	.	.	ENSG00000034063	ENST00000262952;ENST00000396708;ENST00000455180;ENST00000543616;ENST00000398240	.	.	.	3.99	2.94	0.34122	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.72137	0.3423	.	.	.	0.46416	D	0.999032	D;D	0.89917	0.982;1.0	D;D	0.91635	0.952;0.999	T	0.78927	-0.2011	7	0.87932	D	0	-9.2068	8.1498	0.31134	0.0:0.7361:0.0:0.2639	.	727;714	Q2HIX7;Q96T88	.;UHRF1_HUMAN	L	713;328;713;713;726	.	ENSP00000262952:F713L	F	+	3	2	UHRF1	4907731	0.887000	0.30362	0.979000	0.43373	0.481000	0.33189	0.005000	0.13129	0.800000	0.34041	0.561000	0.74099	TTC	UHRF1	-	-	ENSG00000034063		0.582	UHRF1-006	KNOWN	sequence_error|basic	processed_transcript	UHRF1	HGNC	processed_transcript	OTTHUMT00000450444.1	83	0.00	0	C	NM_001048201		4956731	4956731	+1	no_errors	ENST00000262952	ensembl	human	known	69_37n	rna	67	33.66	34	SNP	1.000	A
ULK2	9706	genome.wustl.edu	37	17	19680999	19680999	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:19680999G>A	ENST00000395544.4	-	26	3446	c.2947C>T	c.(2947-2949)Cag>Tag	p.Q983*	ULK2_ENST00000361658.2_Nonsense_Mutation_p.Q983*	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	983	CTD-like region.				autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|negative regulation of collateral sprouting (GO:0048671)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)|response to starvation (GO:0042594)|signal transduction (GO:0007165)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|pre-autophagosomal structure membrane (GO:0034045)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					TCGGTCTGCTGAAACATCTCA	0.413																																						dbGAP											0													85.0	78.0	81.0					17																	19680999		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB014523	CCDS11213.1	17p11.2	2014-02-12	2013-07-02		ENSG00000083290	ENSG00000083290	2.7.11.1		13480	protein-coding gene	gene with protein product		608650	"""unc-51 (C. elegans)-like kinase 2"", ""unc-51-like kinase 2 (C. elegans)"""			10557072	Standard	NM_014683		Approved	KIAA0623, Unc51.2, ATG1B	uc002gwn.3	Q8IYT8	OTTHUMG00000059511	ENST00000395544.4:c.2947C>T	17.37:g.19680999G>A	ENSP00000378914:p.Gln983*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MY69|O75119	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.Q983*	ENST00000395544.4	37	c.2947	CCDS11213.1	17	.	.	.	.	.	.	.	.	.	.	G	44	11.218180	0.99532	.	.	ENSG00000083290	ENST00000361658;ENST00000395544	.	.	.	5.73	5.73	0.89815	.	0.054481	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.1932	18.8883	0.92388	0.0:0.0:1.0:0.0	.	.	.	.	X	983	.	ENSP00000354877:Q983X	Q	-	1	0	ULK2	19621591	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.221000	0.78016	2.698000	0.92095	0.650000	0.86243	CAG	ULK2	-	pfam_Ser/Thr_kinase_C,pirsf_Ser/Thr_kin_STPK_Ulk-1/2	ENSG00000083290		0.413	ULK2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	ULK2	HGNC	protein_coding	OTTHUMT00000132375.2	94	0.00	0	G	NM_014683		19680999	19680999	-1	no_errors	ENST00000361658	ensembl	human	known	69_37n	nonsense	55	25.68	19	SNP	1.000	A
ULK3	25989	genome.wustl.edu	37	15	75131059	75131059	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:75131059C>T	ENST00000440863.2	-	10	1118	c.1027G>A	c.(1027-1029)Gag>Aag	p.E343K	ULK3_ENST00000569437.1_Missense_Mutation_p.E343K|ULK3_ENST00000568667.1_Missense_Mutation_p.E354K	NM_001099436.1	NP_001092906	Q6PHR2	ULK3_HUMAN	unc-51 like kinase 3	343	MIT 1.				autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|cellular senescence (GO:0090398)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)	2						GCCTTGAGCTCCTCAGCCCGG	0.627																																						dbGAP											0													33.0	36.0	35.0					15																	75131059		1963	4154	6117	-	-	-	SO:0001583	missense	0			BC048289		15q24.1	2013-07-02	2013-07-02			ENSG00000140474			19703	protein-coding gene	gene with protein product		613472	"""unc-51-like kinase 3 (C. elegans)"""				Standard	XM_005254289		Approved	DKFZP434C131, FLJ90566	uc010bkf.1	Q6PHR2		ENST00000440863.2:c.1027G>A	15.37:g.75131059C>T	ENSP00000400312:p.Glu343Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RXK3|B4DRQ7|D3DW68|Q9NPN5|Q9UFS4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIT,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_MIT,pfscan_Prot_kinase_cat_dom	p.E343K	ENST00000440863.2	37	c.1027	CCDS45305.1	15	.	.	.	.	.	.	.	.	.	.	C	21.6	4.169665	0.78452	.	.	ENSG00000140474	ENST00000440863;ENST00000418051	T	0.70045	-0.45	5.02	4.1	0.47936	MIT (2);	.	.	.	.	T	0.58609	0.2134	N	0.20610	0.595	0.49483	D	0.999794	P;P;P;P	0.46706	0.767;0.854;0.883;0.873	B;P;P;B	0.49140	0.376;0.479;0.601;0.412	T	0.58387	-0.7645	9	0.40728	T	0.16	-15.3133	12.0722	0.53624	0.0:0.9153:0.0:0.0847	.	354;253;343;343	B4DFT0;B4DFS6;Q6PHR2;Q6PHR2-3	.;.;ULK3_HUMAN;.	K	343;354	ENSP00000400312:E343K	ENSP00000393658:E354K	E	-	1	0	ULK3	72918112	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	7.003000	0.76310	1.103000	0.41568	0.491000	0.48974	GAG	ULK3	-	pfam_MIT,smart_MIT	ENSG00000140474		0.627	ULK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ULK3	HGNC	protein_coding	OTTHUMT00000421734.4	37	0.00	0	C	NM_015518		75131059	75131059	-1	no_errors	ENST00000440863	ensembl	human	known	69_37n	missense	25	16.67	5	SNP	1.000	T
ULK4	54986	genome.wustl.edu	37	3	41949345	41949345	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:41949345G>C	ENST00000301831.4	-	12	1636	c.1174C>G	c.(1174-1176)Ctg>Gtg	p.L392V	ULK4_ENST00000420927.1_Missense_Mutation_p.L392V	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	392					cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		ACCTTGGTCAGAGGAGAAGTC	0.393																																						dbGAP											0													107.0	106.0	106.0					3																	41949345		1866	4104	5970	-	-	-	SO:0001583	missense	0			AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"""unc-51-like kinase 4 (C. elegans)"""			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.1174C>G	3.37:g.41949345G>C	ENSP00000301831:p.Leu392Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NF15|Q8IW79|Q9NWV6|Q9UF96	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L392V	ENST00000301831.4	37	c.1174	CCDS43071.1	3	.	.	.	.	.	.	.	.	.	.	G	6.553	0.470241	0.12461	.	.	ENSG00000168038	ENST00000301831;ENST00000420927	T;T	0.66460	0.62;-0.21	5.01	-4.05	0.03998	.	1.398420	0.04124	N	0.316859	T	0.48021	0.1477	L	0.29908	0.895	0.18873	N	0.999989	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.18808	-1.0325	10	0.15499	T	0.54	.	5.6727	0.17731	0.3274:0.292:0.3806:0.0	.	392;392	B4E2M4;Q96C45	.;ULK4_HUMAN	V	392	ENSP00000301831:L392V;ENSP00000412187:L392V	ENSP00000301831:L392V	L	-	1	2	ULK4	41924349	0.000000	0.05858	0.080000	0.20451	0.949000	0.60115	-0.707000	0.05041	-0.632000	0.05553	-0.378000	0.06908	CTG	ULK4	-	NULL	ENSG00000168038		0.393	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ULK4	HGNC	protein_coding	OTTHUMT00000343490.1	82	0.00	0	G	XM_929989		41949345	41949345	-1	no_errors	ENST00000301831	ensembl	human	known	69_37n	missense	77	23.00	23	SNP	0.017	C
UMOD	7369	genome.wustl.edu	37	16	20352646	20352646	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:20352646G>A	ENST00000570689.1	-	7	1490	c.1344C>T	c.(1342-1344)atC>atT	p.I448I	UMOD_ENST00000302509.4_Silent_p.I448I|UMOD_ENST00000396138.4_Silent_p.I497I|UMOD_ENST00000424589.1_Silent_p.I481I|UMOD_ENST00000396142.2_Silent_p.I448I|UMOD_ENST00000570331.1_5'UTR|UMOD_ENST00000396134.2_Silent_p.I481I			P07911	UROM_HUMAN	uromodulin	448	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CGCCCACTCTGATGTTTAGAG	0.592																																						dbGAP											0													67.0	60.0	62.0					16																	20352646		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"""Tamm-Horsfall glycoprotein"", ""uromucoid"""	191845	"""uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"""			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.1344C>T	16.37:g.20352646G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Silent	SNP	pfam_Zona_pellucida_Endoglin/CD105,pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Zona_pellucida_Endoglin/CD105,pfscan_EG-like_dom,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr	p.I481	ENST00000570689.1	37	c.1443	CCDS10583.1	16																																																																																			UMOD	-	pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105	ENSG00000169344		0.592	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	UMOD	HGNC	protein_coding	OTTHUMT00000436862.1	48	0.00	0	G			20352646	20352646	-1	no_errors	ENST00000424589	ensembl	human	known	69_37n	silent	37	13.95	6	SNP	1.000	A
UMPS	7372	genome.wustl.edu	37	3	124449331	124449331	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:124449331C>G	ENST00000232607.2	+	1	119	c.13C>G	c.(13-15)Cgt>Ggt	p.R5G	UMPS_ENST00000536109.1_5'UTR|UMPS_ENST00000538242.1_5'UTR|UMPS_ENST00000413078.2_5'UTR|MIR544B_ENST00000582372.1_RNA	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase	5	OPRTase.				'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|cellular response to drug (GO:0035690)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|small molecule metabolic process (GO:0044281)|UMP biosynthetic process (GO:0006222)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	orotate phosphoribosyltransferase activity (GO:0004588)|orotidine-5'-phosphate decarboxylase activity (GO:0004590)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)	Fluorouracil(DB00544)	GGCGGTCGCTCGTGCAGCTTT	0.632																																						dbGAP											0													66.0	74.0	71.0					3																	124449331		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3029.1	3q13	2008-02-04	2008-02-04		ENSG00000114491	ENSG00000114491	2.4.2.10, 4.1.1.23		12563	protein-coding gene	gene with protein product	"""orotate phosphoribosyl transferase and orotidine-5'-decarboxylase"""	613891				2767686	Standard	NM_000373		Approved		uc003ehl.4	P11172	OTTHUMG00000159431	ENST00000232607.2:c.13C>G	3.37:g.124449331C>G	ENSP00000232607:p.Arg5Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B5LY68|B5LY72|O00758|O00759|O00760|Q16862|Q9H3Q2|Q9UG49	Missense_Mutation	SNP	pfam_OMPdeCOase_dom,pfam_PRibTrfase,superfamily_RibuloseP-bd_barrel,smart_OMPdeCOase_dom,tigrfam_OMPdecase,tigrfam_Or_phspho_trans_clade-1	p.R5G	ENST00000232607.2	37	c.13	CCDS3029.1	3	.	.	.	.	.	.	.	.	.	.	C	7.812	0.715843	0.15306	.	.	ENSG00000114491	ENST00000232607	T	0.63580	-0.05	5.15	0.175	0.15045	.	0.864862	0.10178	N	0.706283	T	0.36386	0.0965	N	0.08118	0	0.20403	N	0.999905	B	0.02656	0.0	B	0.01281	0.0	T	0.17961	-1.0352	10	0.25106	T	0.35	0.0	6.5748	0.22560	0.1664:0.4366:0.3969:0.0	.	5	P11172	UMPS_HUMAN	G	5	ENSP00000232607:R5G	ENSP00000232607:R5G	R	+	1	0	UMPS	125932021	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.000000	0.12993	-0.154000	0.11118	-0.226000	0.12346	CGT	UMPS	-	NULL	ENSG00000114491		0.632	UMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UMPS	HGNC	protein_coding	OTTHUMT00000355271.1	67	0.00	0	C	NM_000373		124449331	124449331	+1	no_errors	ENST00000232607	ensembl	human	known	69_37n	missense	37	31.48	17	SNP	0.000	G
UNC13B	10497	genome.wustl.edu	37	9	35376133	35376133	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:35376133G>A	ENST00000378495.3	+	14	1699	c.1477G>A	c.(1477-1479)Gag>Aag	p.E493K	UNC13B_ENST00000378496.4_Missense_Mutation_p.E493K|UNC13B_ENST00000396787.1_Missense_Mutation_p.E505K	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	493					apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CTACTGCTATGAGTGTGAAGG	0.547																																						dbGAP											0													104.0	102.0	103.0					9																	35376133		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.1477G>A	9.37:g.35376133G>A	ENSP00000367756:p.Glu493Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VYM8	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_Ca-dep,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.E505K	ENST00000378495.3	37	c.1513	CCDS6579.1	9	.	.	.	.	.	.	.	.	.	.	G	37	5.977801	0.97168	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496;ENST00000535471	D;D;D	0.92699	-3.09;-3.09;-3.09	6.07	6.07	0.98685	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.000000	0.85682	D	0.000000	D	0.94470	0.8220	L	0.41124	1.26	0.80722	D	1	D;D	0.71674	0.998;0.975	D;P	0.69479	0.964;0.871	D	0.94393	0.7616	10	0.87932	D	0	-25.1005	20.6439	0.99570	0.0:0.0:1.0:0.0	.	493;493	F8W8M9;O14795	.;UN13B_HUMAN	K	505;493;493;80	ENSP00000380006:E505K;ENSP00000367756:E493K;ENSP00000367757:E493K	ENSP00000367756:E493K	E	+	1	0	UNC13B	35366133	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.890000	0.99128	0.650000	0.86243	GAG	UNC13B	-	pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd	ENSG00000198722		0.547	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13B	HGNC	protein_coding	OTTHUMT00000052296.1	57	0.00	0	G	NM_006377		35376133	35376133	+1	no_errors	ENST00000396787	ensembl	human	known	69_37n	missense	99	12.39	14	SNP	1.000	A
UNC13C	440279	genome.wustl.edu	37	15	54305292	54305292	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:54305292G>C	ENST00000260323.11	+	1	192	c.192G>C	c.(190-192)aaG>aaC	p.K64N	UNC13C_ENST00000545554.1_Missense_Mutation_p.K64N|UNC13C_ENST00000537900.1_Missense_Mutation_p.K64N	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	64					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GCACTGTAAAGAAGATTGCAA	0.423																																						dbGAP											0													85.0	86.0	86.0					15																	54305292		1852	4079	5931	-	-	-	SO:0001583	missense	0			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.192G>C	15.37:g.54305292G>C	ENSP00000260323:p.Lys64Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_Ca-dep,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.K64N	ENST00000260323.11	37	c.192	CCDS45264.1	15	.	.	.	.	.	.	.	.	.	.	G	9.431	1.085496	0.20390	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.83673	-1.75;-1.75;-1.75	5.01	1.46	0.22682	.	.	.	.	.	T	0.70002	0.3174	L	0.32530	0.975	0.40919	D	0.984297	B	0.22541	0.071	B	0.15052	0.012	T	0.64445	-0.6406	9	0.87932	D	0	.	4.0519	0.09800	0.3536:0.1894:0.4569:0.0	.	64	Q8NB66	UN13C_HUMAN	N	64	ENSP00000260323:K64N;ENSP00000438156:K64N;ENSP00000442569:K64N	ENSP00000260323:K64N	K	+	3	2	UNC13C	52092584	1.000000	0.71417	0.989000	0.46669	0.262000	0.26303	1.906000	0.39887	0.465000	0.27167	0.655000	0.94253	AAG	UNC13C	-	NULL	ENSG00000137766		0.423	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	HGNC	protein_coding	OTTHUMT00000419028.3	93	0.00	0	G	NM_173166		54305292	54305292	+1	no_errors	ENST00000260323	ensembl	human	known	69_37n	missense	76	21.65	21	SNP	1.000	C
UNC13C	440279	genome.wustl.edu	37	15	54542443	54542443	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:54542443G>C	ENST00000260323.11	+	7	3249	c.3249G>C	c.(3247-3249)aaG>aaC	p.K1083N	UNC13C_ENST00000545554.1_Missense_Mutation_p.K1083N|UNC13C_ENST00000537900.1_Missense_Mutation_p.K1081N	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1083					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TCTTCAAGAAGACCTTGCAGG	0.433																																						dbGAP											0													91.0	85.0	87.0					15																	54542443		2025	4208	6233	-	-	-	SO:0001583	missense	0			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.3249G>C	15.37:g.54542443G>C	ENSP00000260323:p.Lys1083Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_Ca-dep,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.K1083N	ENST00000260323.11	37	c.3249	CCDS45264.1	15	.	.	.	.	.	.	.	.	.	.	G	20.9	4.067988	0.76301	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.81499	-1.5;-1.5;-1.5	5.65	5.65	0.86999	.	0.109421	0.64402	D	0.000009	D	0.89026	0.6598	M	0.80616	2.505	0.51482	D	0.99992	D	0.76494	0.999	D	0.80764	0.994	D	0.89634	0.3857	10	0.66056	D	0.02	.	12.0728	0.53626	0.0782:0.0:0.9218:0.0	.	1083	Q8NB66	UN13C_HUMAN	N	1083;1083;1081	ENSP00000260323:K1083N;ENSP00000438156:K1083N;ENSP00000442569:K1081N	ENSP00000260323:K1083N	K	+	3	2	UNC13C	52329735	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.084000	0.57650	2.671000	0.90904	0.650000	0.86243	AAG	UNC13C	-	NULL	ENSG00000137766		0.433	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	HGNC	protein_coding	OTTHUMT00000419028.3	93	0.00	0	G	NM_173166		54542443	54542443	+1	no_errors	ENST00000260323	ensembl	human	known	69_37n	missense	42	46.15	36	SNP	1.000	C
UNC13C	440279	genome.wustl.edu	37	15	54630588	54630588	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:54630588G>A	ENST00000260323.11	+	16	4614	c.4614G>A	c.(4612-4614)gcG>gcA	p.A1538A	UNC13C_ENST00000545554.1_Silent_p.A1538A|UNC13C_ENST00000537900.1_Silent_p.A1536A	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1538					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CCCCAAAAGCGAGCATGGTGG	0.433																																						dbGAP											0													147.0	149.0	148.0					15																	54630588		1878	4106	5984	-	-	-	SO:0001819	synonymous_variant	0			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.4614G>A	15.37:g.54630588G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q0P613|Q8ND48|Q96NP3	Silent	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_Ca-dep,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.A1538	ENST00000260323.11	37	c.4614	CCDS45264.1	15																																																																																			UNC13C	-	NULL	ENSG00000137766		0.433	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	HGNC	protein_coding	OTTHUMT00000419028.3	106	0.00	0	G	NM_173166		54630588	54630588	+1	no_errors	ENST00000260323	ensembl	human	known	69_37n	silent	58	31.76	27	SNP	1.000	A
UNC13C	440279	genome.wustl.edu	37	15	54919071	54919071	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:54919071C>G	ENST00000260323.11	+	32	6405	c.6405C>G	c.(6403-6405)ctC>ctG	p.L2135L	UNC13C_ENST00000539562.2_Silent_p.L56L|UNC13C_ENST00000545554.1_Silent_p.L2135L|UNC13C_ENST00000537900.1_Silent_p.L2133L	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	2135	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AACTTCATCTCTCAGTTAAGG	0.408																																						dbGAP											0													70.0	63.0	65.0					15																	54919071		1856	4087	5943	-	-	-	SO:0001819	synonymous_variant	0			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.6405C>G	15.37:g.54919071C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q0P613|Q8ND48|Q96NP3	Silent	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_Ca-dep,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.L2135	ENST00000260323.11	37	c.6405	CCDS45264.1	15																																																																																			UNC13C	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	ENSG00000137766		0.408	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	HGNC	protein_coding	OTTHUMT00000419028.3	75	0.00	0	C	NM_173166		54919071	54919071	+1	no_errors	ENST00000260323	ensembl	human	known	69_37n	silent	44	27.87	17	SNP	0.982	G
UNC50	25972	genome.wustl.edu	37	2	99226339	99226339	+	Silent	SNP	C	C	T	rs148175018		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:99226339C>T	ENST00000357765.2	+	2	269	c.117C>T	c.(115-117)ttC>ttT	p.F39F	UNC50_ENST00000409347.1_Silent_p.F56F|COA5_ENST00000328709.3_5'Flank|COA5_ENST00000483527.1_5'Flank|COA5_ENST00000409997.1_5'Flank|UNC50_ENST00000409975.1_Silent_p.F56F	NM_014044.5	NP_054763.2	Q53HI1	UNC50_HUMAN	unc-50 homolog (C. elegans)	39					cell surface receptor signaling pathway (GO:0007166)|protein transport (GO:0015031)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)	RNA binding (GO:0003723)			breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						GAAGGCTTTTCCGCTTTCGGC	0.468																																						dbGAP											0													133.0	132.0	132.0					2																	99226339		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS2035.1	2q12.2	2008-02-05			ENSG00000115446	ENSG00000115446			16046	protein-coding gene	gene with protein product						10980252	Standard	NM_014044		Approved	URP, UNCL, GMH1	uc002szc.4	Q53HI1	OTTHUMG00000130562	ENST00000357765.2:c.117C>T	2.37:g.99226339C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DVH4|Q53S98|Q53TD6|Q5U5U2|Q6X7B9|Q9UQF4|Q9Y4S6	Silent	SNP	pfam_UNC-50	p.F56	ENST00000357765.2	37	c.168	CCDS2035.1	2																																																																																			UNC50	-	pfam_UNC-50	ENSG00000115446		0.468	UNC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC50	HGNC	protein_coding	OTTHUMT00000252987.1	61	0.00	0	C	NM_014044		99226339	99226339	+1	no_errors	ENST00000409347	ensembl	human	known	69_37n	silent	59	26.25	21	SNP	0.506	T
UNC79	57578	genome.wustl.edu	37	14	94128949	94128949	+	Splice_Site	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:94128949G>A	ENST00000393151.2	+	41	6642		c.e41-1		UNC79_ENST00000553484.1_Splice_Site|UNC79_ENST00000555664.1_Splice_Site|UNC79_ENST00000256339.4_Splice_Site			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)						behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TCTCATTGCAGAGTTTGTTGG	0.368																																						dbGAP											0													101.0	89.0	93.0					14																	94128949		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.6643-1G>A	14.37:g.94128949G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDL6|Q6ZUT7	Splice_Site	SNP	-	e42-1	ENST00000393151.2	37	c.6709-1		14	.	.	.	.	.	.	.	.	.	.	G	26.9	4.777114	0.90195	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8193	0.96586	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIAA1409	93198702	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.869000	0.99810	2.690000	0.91761	0.555000	0.69702	.	UNC79	-	-	ENSG00000133958		0.368	UNC79-006	KNOWN	basic	protein_coding	UNC79	HGNC	protein_coding	OTTHUMT00000412766.1	91	0.00	0	G	XM_028395	Intron	94128949	94128949	+1	no_errors	ENST00000553484	ensembl	human	known	69_37n	splice_site	52	53.98	61	SNP	1.000	A
UPF1	5976	genome.wustl.edu	37	19	18960956	18960956	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:18960956G>A	ENST00000599848.1	+	4	743	c.534G>A	c.(532-534)gaG>gaA	p.E178E	UPF1_ENST00000262803.5_Silent_p.E178E|UPF1_ENST00000600310.1_3'UTR			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	178	Sufficient for interaction with RENT2.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CCCTGGGGGAGACAGTCCTGG	0.552																																						dbGAP											0													103.0	99.0	100.0					19																	18960956		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"""UP Frameshift 1"", ""smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	601430	"""regulator of nonsense transcripts 1"""	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.534G>A	19.37:g.18960956G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O00239|O43343|Q86Z25|Q92842	Silent	SNP	pfam_RNA-helicase_UPF1_UPF2-interct,pfam_Helicase/UvrB_dom	p.E178	ENST00000599848.1	37	c.534		19																																																																																			UPF1	-	pfam_RNA-helicase_UPF1_UPF2-interct	ENSG00000005007		0.552	UPF1-002	KNOWN	basic	protein_coding	UPF1	HGNC	protein_coding	OTTHUMT00000464684.1	39	0.00	0	G	NM_002911		18960956	18960956	+1	no_errors	ENST00000262803	ensembl	human	known	69_37n	silent	26	39.53	17	SNP	1.000	A
UPF2	26019	genome.wustl.edu	37	10	12039691	12039691	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:12039691G>A	ENST00000356352.2	-	7	2297	c.1824C>T	c.(1822-1824)ctC>ctT	p.L608L	UPF2_ENST00000357604.5_Silent_p.L608L|UPF2_ENST00000397053.2_Silent_p.L608L			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	608	MIF4G 2.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				GAACTATGAAGAGTGCCCGTA	0.348																																						dbGAP											0													184.0	174.0	177.0					10																	12039691		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"""smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.1824C>T	10.37:g.12039691G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Silent	SNP	pfam_MIF4G-like_typ-3,pfam_Up-fram_suppressor-2,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	p.L608	ENST00000356352.2	37	c.1824	CCDS7086.1	10																																																																																			UPF2	-	pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	ENSG00000151461		0.348	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	UPF2	HGNC	protein_coding	OTTHUMT00000046783.1	286	0.00	0	G			12039691	12039691	-1	no_errors	ENST00000356352	ensembl	human	known	69_37n	silent	169	23.18	51	SNP	1.000	A
UPF2	26019	genome.wustl.edu	37	10	12046574	12046574	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:12046574C>G	ENST00000356352.2	-	4	1932	c.1459G>C	c.(1459-1461)Gaa>Caa	p.E487Q	UPF2_ENST00000357604.5_Missense_Mutation_p.E487Q|UPF2_ENST00000397053.2_Missense_Mutation_p.E487Q			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	487					gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				CAACTTTTTTCATTGTCTTTA	0.328																																						dbGAP											0													71.0	67.0	69.0					10																	12046574		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"""smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.1459G>C	10.37:g.12046574C>G	ENSP00000348708:p.Glu487Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Missense_Mutation	SNP	pfam_MIF4G-like_typ-3,pfam_Up-fram_suppressor-2,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	p.E487Q	ENST00000356352.2	37	c.1459	CCDS7086.1	10	.	.	.	.	.	.	.	.	.	.	C	22.9	4.348352	0.82132	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000379172;ENST00000397053;ENST00000313977	T;T;T	0.29655	1.56;1.56;1.56	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.52741	0.1753	L	0.58101	1.795	0.80722	D	1	D;D	0.61080	0.989;0.985	D;P	0.72982	0.979;0.622	T	0.49322	-0.8952	10	0.41790	T	0.15	.	18.4495	0.90697	0.0:1.0:0.0:0.0	.	457;487	Q9HAU5-2;Q9HAU5	.;RENT2_HUMAN	Q	487;487;457;487;457	ENSP00000348708:E487Q;ENSP00000350221:E487Q;ENSP00000380244:E487Q	ENSP00000313617:E457Q	E	-	1	0	UPF2	12086580	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.357000	0.79964	0.563000	0.77884	GAA	UPF2	-	NULL	ENSG00000151461		0.328	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	UPF2	HGNC	protein_coding	OTTHUMT00000046783.1	169	0.00	0	C			12046574	12046574	-1	no_errors	ENST00000356352	ensembl	human	known	69_37n	missense	80	29.20	33	SNP	1.000	G
UPK1A	11045	genome.wustl.edu	37	19	36164157	36164157	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:36164157C>G	ENST00000222275.2	+	3	309	c.309C>G	c.(307-309)gtC>gtG	p.V103V	UPK1A-AS1_ENST00000443196.1_RNA|UPK1A_ENST00000379013.2_Silent_p.V103V	NM_007000.2	NP_008931.1	O00322	UPK1A_HUMAN	uroplakin 1A	103					epithelial cell differentiation (GO:0030855)|protein oligomerization (GO:0051259)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	monosaccharide binding (GO:0048029)|protein homodimerization activity (GO:0042803)			breast(1)|large_intestine(4)|lung(2)|stomach(2)	9	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGCTCATCGTCTACATCTTCG	0.662																																						dbGAP											0													121.0	97.0	105.0					19																	36164157		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF085807	CCDS12470.1, CCDS62640.1	19q13.1	2013-02-14			ENSG00000105668	ENSG00000105668		"""Tetraspanins"""	12577	protein-coding gene	gene with protein product		611557				9846985, 10404304	Standard	NM_007000		Approved	TSPAN21	uc002oaw.3	O00322	OTTHUMG00000048115	ENST00000222275.2:c.309C>G	19.37:g.36164157C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3KNU5|Q3KNU6	Silent	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.V103	ENST00000222275.2	37	c.309	CCDS12470.1	19																																																																																			UPK1A	-	pfam_Tetraspanin/Peripherin,prints_Tetraspanin	ENSG00000105668		0.662	UPK1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UPK1A	HGNC	protein_coding	OTTHUMT00000109486.3	61	0.00	0	C			36164157	36164157	+1	no_errors	ENST00000379013	ensembl	human	known	69_37n	silent	57	14.93	10	SNP	1.000	G
UQCC1	55245	genome.wustl.edu	37	20	33935018	33935018	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:33935018G>C	ENST00000374385.5	-	7	699	c.522C>G	c.(520-522)atC>atG	p.I174M	UQCC1_ENST00000540457.1_Missense_Mutation_p.I19M|UQCC1_ENST00000374380.2_Missense_Mutation_p.I106M|UQCC1_ENST00000349714.5_Missense_Mutation_p.I147M|UQCC1_ENST00000397556.3_Missense_Mutation_p.I75M|UQCC1_ENST00000491125.1_5'UTR|UQCC1_ENST00000359226.2_Intron|UQCC1_ENST00000407996.2_Intron|UQCC1_ENST00000374377.5_Missense_Mutation_p.I62M|UQCC1_ENST00000397554.1_Missense_Mutation_p.I174M|UQCC1_ENST00000374384.2_Missense_Mutation_p.I174M|UQCC1_ENST00000542501.1_Missense_Mutation_p.H131D	NM_018244.4	NP_060714.3	Q9NVA1	UQCC1_HUMAN	ubiquinol-cytochrome c reductase complex assembly factor 1	174						cytoplasmic membrane-bounded vesicle (GO:0016023)|mitochondrion (GO:0005739)											AATGAACTATGATACGACACA	0.488																																						dbGAP											0													265.0	229.0	241.0					20																	33935018		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001712	CCDS13252.1, CCDS13253.1, CCDS13253.2, CCDS54458.1	20q11.22	2013-09-20	2013-09-20	2013-09-20	ENSG00000101019	ENSG00000101019		"""Mitochondrial respiratory chain complex assembly factors"""	15891	protein-coding gene	gene with protein product	"""Basic FGF-repressed Zic-binding protein"", ""cytochrome B protein synthesis 3 homolog (S. cerevisiae)"""	611797	"""chromosome 20 open reading frame 44"", ""ubiquinol-cytochrome c reductase complex chaperone"""	C20orf44, UQCC			Standard	NM_018244		Approved	FLJ10850, CBP3, BFZB	uc002xcd.3	Q9NVA1	OTTHUMG00000032335	ENST00000374385.5:c.522C>G	20.37:g.33935018G>C	ENSP00000363506:p.Ile174Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AKV5|Q0VF37|Q5T348|Q5T351|Q5T353|Q86YU3|Q86YU4|Q96H66|Q9H438|Q9H452|Q9H9K8|Q9H9R5	Missense_Mutation	SNP	pfam_Ubiq_cyt_c_chap/UPF0174	p.I174M	ENST00000374385.5	37	c.522	CCDS13252.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.26|15.26	2.781072|2.781072	0.49891|0.49891	.|.	.|.	ENSG00000101019|ENSG00000101019	ENST00000542501|ENST00000349714;ENST00000374384;ENST00000374380;ENST00000374385;ENST00000374377;ENST00000397556;ENST00000540457;ENST00000424405;ENST00000438533;ENST00000397554	T|T;T;T;T;T;T	0.32988|0.43294	1.43|1.52;1.45;1.5;0.95;1.48;1.43	4.32|4.32	3.37|3.37	0.38596|0.38596	.|.	.|0.144555	.|0.46758	.|D	.|0.000264	T|T	0.38665|0.38665	0.1049|0.1049	L|L	0.29908|0.29908	0.895|0.895	0.23266|0.23266	N|N	0.998017|0.998017	.|P;P;P;P;P;D;B;B	.|0.58970	.|0.921;0.854;0.782;0.854;0.674;0.984;0.272;0.272	.|P;P;P;P;B;P;B;B	.|0.52514	.|0.49;0.701;0.611;0.701;0.105;0.663;0.315;0.315	T|T	0.12293|0.12293	-1.0553|-1.0553	7|10	0.87932|0.40728	D|T	0|0.16	-16.5062|-16.5062	9.317|9.317	0.37941|0.37941	0.2325:0.0:0.7675:0.0|0.2325:0.0:0.7675:0.0	.|.	.|106;166;174;174;59;75;147;174	.|B1AKV5;Q59FR0;B7ZBG3;B1AKV2;Q9NVA1-3;B7Z314;B7ZBG4;Q9NVA1	.|.;.;.;.;.;.;.;UQCC_HUMAN	D|M	131|147;174;106;174;62;75;19;142;188;174	ENSP00000445059:H131D|ENSP00000335364:I147M;ENSP00000363505:I174M;ENSP00000363506:I174M;ENSP00000399713:I142M;ENSP00000398531:I188M;ENSP00000380686:I174M	ENSP00000445059:H131D|ENSP00000335364:I147M	H|I	-|-	1|3	0|3	UQCC|UQCC	33398432|33398432	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.997000|0.997000	0.91878|0.91878	3.994000|3.994000	0.56994|0.56994	1.172000|1.172000	0.42781|0.42781	0.491000|0.491000	0.48974|0.48974	CAT|ATC	UQCC	-	pfam_Ubiq_cyt_c_chap/UPF0174	ENSG00000101019		0.488	UQCC1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	UQCC	HGNC	protein_coding	OTTHUMT00000078866.1	152	0.00	0	G	NM_018244		33935018	33935018	-1	no_errors	ENST00000374385	ensembl	human	known	69_37n	missense	154	23.00	46	SNP	1.000	C
UQCRC2	7385	genome.wustl.edu	37	16	21974112	21974112	+	Silent	SNP	C	C	T	rs147128094		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:21974112C>T	ENST00000268379.4	+	6	1184	c.420C>T	c.(418-420)gtC>gtT	p.V140V	UQCRC2_ENST00000561553.1_Silent_p.V140V	NM_003366.2	NP_003357.2	P22695	QCR2_HUMAN	ubiquinol-cytochrome c reductase core protein II	140					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(48;0.0264)		TGCTCAATGTCACCACAGCAC	0.418																																					Colon(123;450 1645 12841 25393 45623)	dbGAP											0													136.0	123.0	128.0					16																	21974112		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			J04973	CCDS10601.1	16p12	2011-07-04			ENSG00000140740	ENSG00000140740	1.10.2.2	"""Mitochondrial respiratory chain complex / Complex III"""	12586	protein-coding gene	gene with protein product		191329				8288258, 2547763	Standard	NM_003366		Approved	QCR2, UQCR2	uc002djx.3	P22695	OTTHUMG00000131585	ENST00000268379.4:c.420C>T	16.37:g.21974112C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KSN4|Q9BQ05	Silent	SNP	pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd	p.V140	ENST00000268379.4	37	c.420	CCDS10601.1	16																																																																																			UQCRC2	-	pfam_Pept_M16_N,superfamily_Metalloenz_metal-bd	ENSG00000140740		0.418	UQCRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UQCRC2	HGNC	protein_coding	OTTHUMT00000254466.1	115	0.00	0	C	NM_003366		21974112	21974112	+1	no_errors	ENST00000268379	ensembl	human	known	69_37n	silent	81	21.36	22	SNP	1.000	T
URGCP	55665	genome.wustl.edu	37	7	43917189	43917189	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:43917189C>T	ENST00000453200.1	-	6	2366	c.1873G>A	c.(1873-1875)Gag>Aag	p.E625K	URGCP_ENST00000447717.3_Missense_Mutation_p.E582K|URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000223341.7_Missense_Mutation_p.E582K|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000443736.1_Missense_Mutation_p.E582K|URGCP_ENST00000402306.3_Missense_Mutation_p.E616K|URGCP_ENST00000336086.6_Missense_Mutation_p.E582K			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	625					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTCTCAGCCTCATAAAACTGT	0.637																																						dbGAP											0													49.0	56.0	54.0					7																	43917189		2077	4205	6282	-	-	-	SO:0001583	missense	0				CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"""up-regulated gene 4"""	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.1873G>A	7.37:g.43917189C>T	ENSP00000396918:p.Glu625Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Missense_Mutation	SNP	prints_GTP_binding_domain	p.E625K	ENST00000453200.1	37	c.1873	CCDS47578.1	7	.	.	.	.	.	.	.	.	.	.	C	27.8	4.865228	0.91511	.	.	ENSG00000106608	ENST00000223341;ENST00000336086;ENST00000402306;ENST00000443736;ENST00000453200;ENST00000447717	T;T;T;T;T;T	0.21191	2.07;2.07;2.03;2.07;2.02;2.07	5.79	5.79	0.91817	.	0.100757	0.64402	D	0.000003	T	0.51753	0.1693	M	0.83774	2.66	0.49798	D	0.999827	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	T	0.55231	-0.8173	10	0.87932	D	0	-41.7064	17.5201	0.87784	0.0:1.0:0.0:0.0	.	616;625	Q8TCY9-2;Q8TCY9	.;URGCP_HUMAN	K	582;582;616;582;625;582	ENSP00000223341:E582K;ENSP00000336872:E582K;ENSP00000384955:E616K;ENSP00000392136:E582K;ENSP00000396918:E625K;ENSP00000402803:E582K	ENSP00000223341:E582K	E	-	1	0	URGCP	43883714	1.000000	0.71417	0.997000	0.53966	0.907000	0.53573	7.353000	0.79414	2.735000	0.93741	0.655000	0.94253	GAG	URGCP	-	NULL	ENSG00000106608		0.637	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	URGCP	HGNC	protein_coding	OTTHUMT00000338995.1	25	0.00	0	C	NM_001077664		43917189	43917189	-1	no_errors	ENST00000453200	ensembl	human	known	69_37n	missense	19	17.39	4	SNP	1.000	T
USH1C	10083	genome.wustl.edu	37	11	17552718	17552718	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:17552718C>T	ENST00000318024.4	-	4	478	c.370G>A	c.(370-372)Gac>Aac	p.D124N	USH1C_ENST00000527020.1_Missense_Mutation_p.D124N|USH1C_ENST00000527720.1_Missense_Mutation_p.D93N|USH1C_ENST00000005226.7_Missense_Mutation_p.D124N	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	124	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CCGACGCTGTCTGCCTGACCG	0.657																																						dbGAP											0													40.0	43.0	42.0					11																	17552718		2200	4293	6493	-	-	-	SO:0001583	missense	0			AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"""harmonin"""	605242	"""deafness, autosomal recessive 18"""	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.370G>A	11.37:g.17552718C>T	ENSP00000317018:p.Asp124Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.D124N	ENST00000318024.4	37	c.370	CCDS31438.1	11	.	.	.	.	.	.	.	.	.	.	C	34	5.312447	0.95655	.	.	ENSG00000006611	ENST00000318024;ENST00000527720;ENST00000527020;ENST00000005226;ENST00000526181	T;T;T;T;T	0.27720	1.65;1.65;1.65;1.65;1.65	5.39	5.39	0.77823	PDZ/DHR/GLGF (4);	0.099322	0.64402	D	0.000001	T	0.54854	0.1884	M	0.79011	2.435	0.52501	D	0.999955	P;P;D	0.56287	0.886;0.907;0.975	P;P;P	0.59012	0.62;0.738;0.85	T	0.58171	-0.7683	10	0.66056	D	0.02	.	18.2789	0.90092	0.0:1.0:0.0:0.0	.	124;124;124	Q9Y6N9-4;Q9Y6N9;Q7RTU8	.;USH1C_HUMAN;.	N	124;93;124;124;135	ENSP00000317018:D124N;ENSP00000432944:D93N;ENSP00000436934:D124N;ENSP00000005226:D124N;ENSP00000437128:D135N	ENSP00000005226:D124N	D	-	1	0	USH1C	17509294	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	5.033000	0.64146	2.688000	0.91661	0.561000	0.74099	GAC	USH1C	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000006611		0.657	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	USH1C	HGNC	protein_coding	OTTHUMT00000389146.1	8	0.00	0	C	NM_005709		17552718	17552718	-1	no_errors	ENST00000005226	ensembl	human	known	69_37n	missense	20	39.39	13	SNP	1.000	T
USH2A	7399	genome.wustl.edu	37	1	216496860	216496860	+	Silent	SNP	G	G	C	rs35285592		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:216496860G>C	ENST00000307340.3	-	8	1892	c.1506C>G	c.(1504-1506)ctC>ctG	p.L502L	USH2A_ENST00000366942.3_Silent_p.L502L|USH2A_ENST00000366943.2_Silent_p.L502L	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	502	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATCTGTGTCTGAGGTTAACAG	0.363										HNSCC(13;0.011)																												dbGAP											0													152.0	148.0	149.0					1																	216496860		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.1506C>G	1.37:g.216496860G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VVM9|Q6S362|Q9NS27	Silent	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.L502	ENST00000307340.3	37	c.1506	CCDS31025.1	1																																																																																			USH2A	-	smart_Laminin_N,pfscan_Laminin_N	ENSG00000042781		0.363	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	94	0.00	0	G	NM_007123		216496860	216496860	-1	no_errors	ENST00000366943	ensembl	human	known	69_37n	silent	115	19.58	28	SNP	0.160	C
USO1	8615	genome.wustl.edu	37	4	76726388	76726388	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:76726388G>C	ENST00000538159.1	+	20	2248	c.2248G>C	c.(2248-2250)Gaa>Caa	p.E750Q	USO1_ENST00000514213.2_Missense_Mutation_p.E726Q			O60763	USO1_HUMAN	USO1 vesicle transport factor	741					ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi vesicle docking (GO:0048211)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|mitotic cell cycle (GO:0000278)|transcytosis (GO:0045056)|vesicle fusion with Golgi apparatus (GO:0048280)	endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AGAGATAGAAGAATTAAAACG	0.358																																						dbGAP											0													59.0	56.0	57.0					4																	76726388		1839	4092	5931	-	-	-	SO:0001583	missense	0			AL832010	CCDS75144.1	4q21.1	2012-12-10	2012-12-10		ENSG00000138768	ENSG00000138768			30904	protein-coding gene	gene with protein product	"""vesicle docking protein"", ""transcytosis associated protein"""	603344	"""USO1 homolog, vesicle docking protein (yeast)"", ""USO1 vesicle docking protein homolog (yeast)"""			9478999, 9150144, 12077354, 15979508, 14736916	Standard	XM_006714395		Approved	TAP, VDP, p115	uc003hiu.3	O60763	OTTHUMG00000160952	ENST00000538159.1:c.2248G>C	4.37:g.76726388G>C	ENSP00000440586:p.Glu750Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAQ0|Q6PK63|Q86TB8|Q8N592	Missense_Mutation	SNP	pfam_Vesicle_Uso1_P115_head,pfam_Uso1_p115_C,superfamily_ARM-type_fold,superfamily_t-SNARE	p.E750Q	ENST00000538159.1	37	c.2248		4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.47|15.47	2.844487|2.844487	0.51164|0.51164	.|.	.|.	ENSG00000138768|ENSG00000138768	ENST00000508939;ENST00000538159;ENST00000514213;ENST00000264904|ENST00000441296	.|.	.|.	.|.	5.8|5.8	5.8|5.8	0.92144|0.92144	Armadillo-type fold (1);|.	0.044485|.	0.85682|.	D|.	0.000000|.	T|T	0.71290|0.71290	0.3322|0.3322	L|L	0.50333|0.50333	1.59|1.59	0.52501|0.52501	D|D	0.999957|0.999957	D;P|.	0.63880|.	0.993;0.938|.	P;B|.	0.59221|.	0.854;0.368|.	T|T	0.66073|0.66073	-0.6014|-0.6014	9|5	0.30854|.	T|.	0.27|.	.|.	20.055|20.055	0.97649|0.97649	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	750;741|.	F5GYR8;O60763|.	.;USO1_HUMAN|.	Q|N	576;750;726;669|416	.|.	ENSP00000264904:E669Q|.	E|K	+|+	1|3	0|2	USO1|USO1	76945412|76945412	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.318000|0.318000	0.28184|0.28184	4.609000|4.609000	0.61148|0.61148	2.743000|2.743000	0.94032|0.94032	0.455000|0.455000	0.32223|0.32223	GAA|AAG	USO1	-	superfamily_ARM-type_fold	ENSG00000138768		0.358	USO1-202	KNOWN	basic|appris_candidate_longest	protein_coding	USO1	HGNC	protein_coding		68	0.00	0	G	NM_003715		76726388	76726388	+1	no_errors	ENST00000538159	ensembl	human	known	69_37n	missense	55	15.38	10	SNP	1.000	C
USP11	8237	genome.wustl.edu	37	X	47100714	47100714	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:47100714C>G	ENST00000218348.3	+	8	1014	c.1014C>G	c.(1012-1014)ctC>ctG	p.L338L	USP11_ENST00000377107.2_Silent_p.L295L	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	338	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						AGTACTTCCTCAACAACTGCT	0.567																																						dbGAP											0													124.0	82.0	96.0					X																	47100714		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			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.1014C>G	X.37:g.47100714C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTX1|Q8IUG6|Q9BWE1	Silent	SNP	pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19	p.L338	ENST00000218348.3	37	c.1014	CCDS14277.1	X																																																																																			USP11	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000102226		0.567	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP11	HGNC	protein_coding		61	0.00	0	C	NM_004651		47100714	47100714	+1	no_errors	ENST00000218348	ensembl	human	known	69_37n	silent	63	18.18	14	SNP	0.957	G
USP12	219333	genome.wustl.edu	37	13	27669743	27669743	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr13:27669743C>T	ENST00000282344.6	-	4	824	c.568G>A	c.(568-570)Gaa>Aaa	p.E190K		NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN	ubiquitin specific peptidase 12	190	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		CTTACAGTTTCACAAGTAAGA	0.308																																					Ovarian(37;808 911 7590 44442 44991)	dbGAP											0													57.0	55.0	55.0					13																	27669743		2203	4297	6500	-	-	-	SO:0001583	missense	0			AL049221	CCDS31952.1	13q12.13	2010-05-12	2005-08-08	2003-10-08	ENSG00000152484	ENSG00000152484		"""Ubiquitin-specific peptidases"""	20485	protein-coding gene	gene with protein product			"""ubiquitin specific protease 12 like 1"", ""ubiquitin specific protease 12"""	USP12L1		12838346	Standard	NM_182488		Approved		uc001uqy.3	O75317	OTTHUMG00000016626	ENST00000282344.6:c.568G>A	13.37:g.27669743C>T	ENSP00000282344:p.Glu190Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0X0|Q5VZV3|Q8TC49	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.E190K	ENST00000282344.6	37	c.568	CCDS31952.1	13	.	.	.	.	.	.	.	.	.	.	C	35	5.529613	0.96446	.	.	ENSG00000152484	ENST00000282344	T	0.05649	3.41	5.54	5.54	0.83059	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.089045	0.85682	D	0.000000	T	0.25606	0.0623	M	0.66506	2.035	0.80722	D	1	D	0.65815	0.995	D	0.70487	0.969	T	0.00087	-1.2092	10	0.87932	D	0	-26.6157	19.8379	0.96666	0.0:1.0:0.0:0.0	.	190	O75317	UBP12_HUMAN	K	190	ENSP00000282344:E190K	ENSP00000282344:E190K	E	-	1	0	USP12	26567743	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.689000	0.84165	2.765000	0.95021	0.655000	0.94253	GAA	USP12	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000152484		0.308	USP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP12	HGNC	protein_coding	OTTHUMT00000044264.1	116	0.00	0	C	NM_182488		27669743	27669743	-1	no_errors	ENST00000282344	ensembl	human	known	69_37n	missense	45	49.44	44	SNP	1.000	T
USP15	9958	genome.wustl.edu	37	12	62794993	62794993	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:62794993G>A	ENST00000280377.5	+	21	2759	c.2701G>A	c.(2701-2703)Gat>Aat	p.D901N	USP15_ENST00000353364.3_Missense_Mutation_p.D872N|USP15_ENST00000393654.3_Missense_Mutation_p.D876N	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	901	USP.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		AAATAAAGATGATGGAAAATG	0.338																																					Melanoma(181;615 2041 39364 49691 50001)	dbGAP											0													67.0	65.0	66.0					12																	62794993		2202	4296	6498	-	-	-	SO:0001583	missense	0			AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"""Ubiquitin-specific peptidases"""	12613	protein-coding gene	gene with protein product		604731	"""ubiquitin specific protease 15"""			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.2701G>A	12.37:g.62794993G>A	ENSP00000280377:p.Asp901Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Pept_C19_DUSP,superfamily_RNA3'P_cycl/enolpyr_Trfase_a/b,smart_Pept_C19_DUSP,pfscan_Peptidase_C19	p.D901N	ENST00000280377.5	37	c.2701	CCDS58251.1	12	.	.	.	.	.	.	.	.	.	.	G	11.78	1.739445	0.30774	.	.	ENSG00000135655	ENST00000353364;ENST00000280377;ENST00000393654;ENST00000549415	T;T;T;T	0.30981	4.12;4.12;1.51;4.12	5.83	5.83	0.93111	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.151741	0.56097	D	0.000023	T	0.29976	0.0750	L	0.31804	0.96	0.58432	D	0.999999	B;B	0.24576	0.106;0.077	B;B	0.33392	0.163;0.075	T	0.05225	-1.0898	9	.	.	.	-20.145	20.1208	0.97960	0.0:0.0:1.0:0.0	.	901;872	Q9Y4E8;Q9Y4E8-2	UBP15_HUMAN;.	N	872;901;876;103	ENSP00000258123:D872N;ENSP00000280377:D901N;ENSP00000377264:D876N;ENSP00000448372:D103N	.	D	+	1	0	USP15	61081260	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.688000	0.68227	2.758000	0.94735	0.655000	0.94253	GAT	USP15	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000135655		0.338	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP15	HGNC	protein_coding	OTTHUMT00000407831.2	69	0.00	0	G	NM_006313		62794993	62794993	+1	no_errors	ENST00000280377	ensembl	human	known	69_37n	missense	60	33.33	30	SNP	1.000	A
USP28	57646	genome.wustl.edu	37	11	113700047	113700047	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:113700047C>A	ENST00000003302.4	-	10	999	c.931G>T	c.(931-933)Gag>Tag	p.E311*	USP28_ENST00000545540.1_Nonsense_Mutation_p.E186*|USP28_ENST00000537706.1_Nonsense_Mutation_p.E311*|USP28_ENST00000544967.1_Nonsense_Mutation_p.E19*|USP28_ENST00000260188.5_Nonsense_Mutation_p.E311*|USP28_ENST00000542033.1_5'Flank	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	311	USP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		CCGAAGGTCTCATTGTTACAA	0.448																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	dbGAP											0													139.0	128.0	132.0					11																	113700047		2201	4296	6497	-	-	-	SO:0001587	stop_gained	0			AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"""Ubiquitin-specific peptidases"""	12625	protein-coding gene	gene with protein product		610748	"""ubiquitin specific protease 28"""			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.931G>T	11.37:g.113700047C>A	ENSP00000003302:p.Glu311*	Somatic		WXS	Illumina GAIIx	Phase_IV	B0YJC0|B0YJC1|Q9P213	Nonsense_Mutation	SNP	pfam_Peptidase_C19,superfamily_UBA-like,pfscan_Peptidase_C19	p.E311*	ENST00000003302.4	37	c.931	CCDS31680.1	11	.	.	.	.	.	.	.	.	.	.	C	38	7.172740	0.98114	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000544967;ENST00000545540;ENST00000538475;ENST00000537706;ENST00000537642	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-24.0881	19.092	0.93231	0.0:1.0:0.0:0.0	.	.	.	.	X	311;311;19;186;75;311;210	.	ENSP00000003302:E311X	E	-	1	0	USP28	113205257	1.000000	0.71417	0.997000	0.53966	0.937000	0.57800	7.463000	0.80869	2.496000	0.84212	0.462000	0.41574	GAG	USP28	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000048028		0.448	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP28	HGNC	protein_coding	OTTHUMT00000398789.1	104	0.00	0	C			113700047	113700047	-1	no_errors	ENST00000003302	ensembl	human	known	69_37n	nonsense	68	24.18	22	SNP	1.000	A
USP28	57646	genome.wustl.edu	37	11	113702712	113702712	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:113702712C>G	ENST00000003302.4	-	8	831	c.763G>C	c.(763-765)Gat>Cat	p.D255H	USP28_ENST00000545540.1_Missense_Mutation_p.D130H|USP28_ENST00000537706.1_Missense_Mutation_p.D255H|USP28_ENST00000544967.1_5'Flank|USP28_ENST00000260188.5_Missense_Mutation_p.D255H|USP28_ENST00000542033.1_Intron	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	255	USP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.D255N(1)		breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		TCACTCACATCTTGCTATAAG	0.363																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	dbGAP											1	Substitution - Missense(1)	lung(1)											101.0	86.0	91.0					11																	113702712		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"""Ubiquitin-specific peptidases"""	12625	protein-coding gene	gene with protein product		610748	"""ubiquitin specific protease 28"""			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.763G>C	11.37:g.113702712C>G	ENSP00000003302:p.Asp255His	Somatic		WXS	Illumina GAIIx	Phase_IV	B0YJC0|B0YJC1|Q9P213	Splice_Site	SNP	-	e7-1	ENST00000003302.4	37	c.585-1	CCDS31680.1	11	.	.	.	.	.	.	.	.	.	.	C	20.5	4.003018	0.74932	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000545540;ENST00000538475;ENST00000537706;ENST00000537642	T;T;T;T;D;T	0.95069	-0.09;-0.09;-0.09;-0.09;-3.6;0.81	4.51	4.51	0.55191	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	D	0.97776	0.9270	M	0.91090	3.175	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.80764	0.974;0.994;0.987	D	0.98799	1.0739	10	0.87932	D	0	-28.5085	17.7679	0.88483	0.0:1.0:0.0:0.0	.	130;255;255	B4E3L3;Q6NZX9;Q96RU2	.;.;UBP28_HUMAN	H	255;255;130;19;255;154	ENSP00000003302:D255H;ENSP00000260188:D255H;ENSP00000444991:D130H;ENSP00000442257:D19H;ENSP00000445743:D255H;ENSP00000440799:D154H	ENSP00000003302:D255H	D	-	1	0	USP28	113207922	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.119000	0.64679	2.485000	0.83878	0.563000	0.77884	GAT	USP28	-	-	ENSG00000048028		0.363	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP28	HGNC	protein_coding	OTTHUMT00000398789.1	66	0.00	0	C			113702712	113702712	-1	no_errors	ENST00000540438	ensembl	human	known	69_37n	splice_site	34	33.33	17	SNP	1.000	G
USP31	57478	genome.wustl.edu	37	16	23080829	23080829	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:23080829G>A	ENST00000219689.7	-	16	2596	c.2597C>T	c.(2596-2598)tCa>tTa	p.S866L	USP31_ENST00000567975.1_Missense_Mutation_p.S159L	NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0					ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		CAGGGACCATGAAGGTCTCAT	0.498																																						dbGAP											0													47.0	41.0	43.0					16																	23080829		2197	4300	6497	-	-	-	SO:0001583	missense	0			AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"""Ubiquitin-specific peptidases"""	20060	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"""			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.2597C>T	16.37:g.23080829G>A	ENSP00000219689:p.Ser866Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.S866L	ENST00000219689.7	37	c.2597	CCDS10607.1	16	.	.	.	.	.	.	.	.	.	.	G	13.43	2.235060	0.39498	.	.	ENSG00000103404	ENST00000219689;ENST00000381162	T	0.08807	3.05	6.16	6.16	0.99307	.	0.090855	0.49916	D	0.000124	T	0.11750	0.0286	L	0.47716	1.5	0.58432	D	0.999997	B;B;P	0.46859	0.058;0.043;0.885	B;B;P	0.44447	0.022;0.009;0.45	T	0.02975	-1.1087	10	0.31617	T	0.26	-14.3985	14.9528	0.71088	0.0695:0.0:0.9305:0.0	.	169;866;159	Q70CQ4-2;Q70CQ4;B3KS48	.;UBP31_HUMAN;.	L	866;169	ENSP00000219689:S866L	ENSP00000219689:S866L	S	-	2	0	USP31	22988330	1.000000	0.71417	0.943000	0.38184	0.967000	0.64934	6.401000	0.73256	2.937000	0.99478	0.650000	0.86243	TCA	USP31	-	NULL	ENSG00000103404		0.498	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP31	HGNC	protein_coding	OTTHUMT00000211607.1	26	0.00	0	G	NM_020718		23080829	23080829	-1	no_errors	ENST00000219689	ensembl	human	known	69_37n	missense	29	19.44	7	SNP	0.975	A
USP31	57478	genome.wustl.edu	37	16	23085069	23085069	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:23085069G>A	ENST00000219689.7	-	14	2308	c.2309C>T	c.(2308-2310)tCa>tTa	p.S770L	USP31_ENST00000567975.1_5'Flank	NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	734	DUSP 3. {ECO:0000255|PROSITE- ProRule:PRU00613}.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		GGCTGACCATGACGGGATGGC	0.522																																						dbGAP											0													90.0	79.0	83.0					16																	23085069		2197	4300	6497	-	-	-	SO:0001583	missense	0			AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"""Ubiquitin-specific peptidases"""	20060	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"""			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.2309C>T	16.37:g.23085069G>A	ENSP00000219689:p.Ser770Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.S770L	ENST00000219689.7	37	c.2309	CCDS10607.1	16	.	.	.	.	.	.	.	.	.	.	G	27.5	4.838732	0.91117	.	.	ENSG00000103404	ENST00000219689;ENST00000381162	T	0.09911	2.93	5.91	5.91	0.95273	.	0.181621	0.37304	N	0.002143	T	0.29783	0.0744	L	0.51422	1.61	0.80722	D	1	D;D	0.67145	0.996;0.994	D;D	0.77557	0.99;0.983	T	0.00058	-1.2169	10	0.42905	T	0.14	-4.074	19.2867	0.94077	0.0:0.0:1.0:0.0	.	73;770	Q70CQ4-2;Q70CQ4	.;UBP31_HUMAN	L	770;73	ENSP00000219689:S770L	ENSP00000219689:S770L	S	-	2	0	USP31	22992570	1.000000	0.71417	0.039000	0.18376	0.758000	0.43043	9.430000	0.97488	2.793000	0.96121	0.655000	0.94253	TCA	USP31	-	NULL	ENSG00000103404		0.522	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP31	HGNC	protein_coding	OTTHUMT00000211607.1	66	0.00	0	G	NM_020718		23085069	23085069	-1	no_errors	ENST00000219689	ensembl	human	known	69_37n	missense	44	18.52	10	SNP	0.984	A
USP31	57478	genome.wustl.edu	37	16	23098496	23098496	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:23098496G>A	ENST00000219689.7	-	9	1538	c.1539C>T	c.(1537-1539)ttC>ttT	p.F513F		NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0	DUSP 1. {ECO:0000255|PROSITE- ProRule:PRU00613}.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)	p.F513L(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		CACGCAAGCTGAATGGACACA	0.408																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)											55.0	51.0	52.0					16																	23098496		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"""Ubiquitin-specific peptidases"""	20060	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"""			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.1539C>T	16.37:g.23098496G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Silent	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.F513	ENST00000219689.7	37	c.1539	CCDS10607.1	16																																																																																			USP31	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000103404		0.408	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP31	HGNC	protein_coding	OTTHUMT00000211607.1	31	0.00	0	G	NM_020718		23098496	23098496	-1	no_errors	ENST00000219689	ensembl	human	known	69_37n	silent	32	28.89	13	SNP	1.000	A
USP34	9736	genome.wustl.edu	37	2	61515928	61515928	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:61515928C>T	ENST00000398571.2	-	34	4709	c.4633G>A	c.(4633-4635)Gat>Aat	p.D1545N		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1545					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GCAAAGACATCATGATAAGCT	0.443																																						dbGAP											0													128.0	116.0	120.0					2																	61515928		1894	4114	6008	-	-	-	SO:0001583	missense	0			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.4633G>A	2.37:g.61515928C>T	ENSP00000381577:p.Asp1545Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19	p.D1545N	ENST00000398571.2	37	c.4633	CCDS42686.1	2	.	.	.	.	.	.	.	.	.	.	C	32	5.157525	0.94686	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.04758	3.56	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.14570	0.0352	L	0.40543	1.245	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	T	0.01287	-1.1395	10	0.52906	T	0.07	.	17.0211	0.86434	0.0:1.0:0.0:0.0	.	1545	Q70CQ2	UBP34_HUMAN	N	1393;1393;1545	ENSP00000381577:D1545N	ENSP00000263989:D1393N	D	-	1	0	USP34	61369432	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.249000	0.74217	0.585000	0.79938	GAT	USP34	-	NULL	ENSG00000115464		0.443	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP34	HGNC	protein_coding	OTTHUMT00000325650.4	106	0.00	0	C			61515928	61515928	-1	no_errors	ENST00000398571	ensembl	human	known	69_37n	missense	89	18.35	20	SNP	1.000	T
USP34	9736	genome.wustl.edu	37	2	61515958	61515958	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:61515958C>G	ENST00000398571.2	-	34	4679	c.4603G>C	c.(4603-4605)Gat>Cat	p.D1535H		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1535					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TCGGATGGATCTACTGCAAAC	0.413																																						dbGAP											0													111.0	100.0	103.0					2																	61515958		1895	4113	6008	-	-	-	SO:0001583	missense	0			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.4603G>C	2.37:g.61515958C>G	ENSP00000381577:p.Asp1535His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19	p.D1535H	ENST00000398571.2	37	c.4603	CCDS42686.1	2	.	.	.	.	.	.	.	.	.	.	C	25.9	4.682158	0.88542	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.03689	3.84	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.11324	0.0276	L	0.46157	1.445	0.80722	D	1	D	0.64830	0.994	P	0.58520	0.84	T	0.01720	-1.1288	10	0.56958	D	0.05	.	17.0211	0.86434	0.0:1.0:0.0:0.0	.	1535	Q70CQ2	UBP34_HUMAN	H	1383;1383;1535	ENSP00000381577:D1535H	ENSP00000263989:D1383H	D	-	1	0	USP34	61369462	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	7.818000	0.86416	2.249000	0.74217	0.585000	0.79938	GAT	USP34	-	NULL	ENSG00000115464		0.413	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP34	HGNC	protein_coding	OTTHUMT00000325650.4	92	0.00	0	C			61515958	61515958	-1	no_errors	ENST00000398571	ensembl	human	known	69_37n	missense	48	40.74	33	SNP	1.000	G
USP39	10713	genome.wustl.edu	37	2	85857906	85857906	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:85857906C>G	ENST00000323701.6	+	6	796	c.786C>G	c.(784-786)atC>atG	p.I262M	USP39_ENST00000409025.1_Missense_Mutation_p.I262M|USP39_ENST00000409766.3_Missense_Mutation_p.I262M|USP39_ENST00000450066.2_Missense_Mutation_p.I159M|USP39_ENST00000459775.1_3'UTR|USP39_ENST00000409470.1_Missense_Mutation_p.I262M	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	262	USP.				cell cycle (GO:0007049)|cell division (GO:0051301)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|ubiquitin-dependent protein catabolic process (GO:0006511)	spliceosomal complex (GO:0005681)	ubiquitinyl hydrolase activity (GO:0036459)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						ATAAGAACATCAAACGTCCTC	0.438																																						dbGAP											0													126.0	128.0	127.0					2																	85857906		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF132955	CCDS33234.1, CCDS58716.1, CCDS58717.1, CCDS74534.1	2p11.2	2009-01-06	2005-08-08		ENSG00000168883	ENSG00000168883		"""Ubiquitin-specific peptidases"""	20071	protein-coding gene	gene with protein product	"""snRNP assembly defective 1 homolog (S.cerevisiae)"", ""small nuclear ribonucleoprotein 65kDa (U4/U6.U5)"""	611594	"""ubiquitin specific protease 39"""			12838346	Standard	NM_006590		Approved	SAD1, CGI-21, SNRNP65	uc002sqg.4	Q53GS9	OTTHUMG00000153090	ENST00000323701.6:c.786C>G	2.37:g.85857906C>G	ENSP00000312981:p.Ile262Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K086|B3KM40|B4DHT4|D6W5L4|G5E9H0|Q6NX47|Q96RK9|Q9BV89|Q9H381|Q9P050|Q9Y310	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19	p.I262M	ENST00000323701.6	37	c.786	CCDS33234.1	2	.	.	.	.	.	.	.	.	.	.	C	14.40	2.523781	0.44866	.	.	ENSG00000168883	ENST00000450066;ENST00000409268;ENST00000409025;ENST00000409470;ENST00000323701;ENST00000409766	T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53	5.97	4.17	0.49024	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.44705	0.1306	M	0.75777	2.31	0.49915	D	0.999835	P;B;P;P;P;P	0.46706	0.804;0.257;0.749;0.883;0.67;0.804	B;B;B;P;P;P	0.53102	0.439;0.216;0.341;0.718;0.577;0.544	T	0.21245	-1.0251	10	0.28530	T	0.3	-11.1362	10.7819	0.46382	0.0:0.7784:0.0:0.2216	.	159;184;262;262;262;262	B4DHT4;B7Z7L9;G5E9H0;B3KM40;B9A018;Q53GS9	.;.;.;.;.;SNUT2_HUMAN	M	159;262;262;262;262;262	ENSP00000396133:I159M;ENSP00000386572:I262M;ENSP00000386864:I262M;ENSP00000312981:I262M;ENSP00000386803:I262M	ENSP00000312981:I262M	I	+	3	3	USP39	85711417	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	1.530000	0.36007	0.442000	0.26555	-1.094000	0.02160	ATC	USP39	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000168883		0.438	USP39-009	NOVEL	basic|appris_principal|CCDS	protein_coding	USP39	HGNC	protein_coding	OTTHUMT00000329892.1	101	0.00	0	C	NM_006590		85857906	85857906	+1	no_errors	ENST00000409470	ensembl	human	known	69_37n	missense	94	20.34	24	SNP	1.000	G
USP37	57695	genome.wustl.edu	37	2	219411690	219411690	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:219411690G>C	ENST00000258399.3	-	7	966	c.554C>G	c.(553-555)tCt>tGt	p.S185C	USP37_ENST00000454775.1_Missense_Mutation_p.S185C|USP37_ENST00000418019.1_Missense_Mutation_p.S185C|USP37_ENST00000338465.5_Missense_Mutation_p.S185C|USP37_ENST00000415516.1_Missense_Mutation_p.S113C	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	185					G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		AGATGTCAAAGAAGGAATCGT	0.393																																						dbGAP											0													134.0	134.0	134.0					2																	219411690		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"""Ubiquitin-specific peptidases"""	20063	protein-coding gene	gene with protein product			"""ubiquitin specific protease 37"""			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.554C>G	2.37:g.219411690G>C	ENSP00000258399:p.Ser185Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Peptidase_C19	p.S185C	ENST00000258399.3	37	c.554	CCDS2418.1	2	.	.	.	.	.	.	.	.	.	.	G	12.36	1.915388	0.33815	.	.	ENSG00000135913	ENST00000258399;ENST00000454775;ENST00000415516;ENST00000418019;ENST00000338465	T;T;T;T;T	0.49432	0.93;0.93;0.92;0.93;0.78	4.83	4.83	0.62350	.	0.578855	0.17821	N	0.160877	T	0.44393	0.1291	L	0.50333	1.59	0.30796	N	0.740383	B;B;P	0.52170	0.27;0.115;0.951	B;B;B	0.40901	0.08;0.223;0.343	T	0.54840	-0.8233	10	0.48119	T	0.1	-5.5721	15.8641	0.79052	0.0:0.0:1.0:0.0	.	185;113;185	Q86W68;Q86T82-2;Q86T82	.;.;UBP37_HUMAN	C	185;185;113;185;185	ENSP00000258399:S185C;ENSP00000393662:S185C;ENSP00000400902:S113C;ENSP00000396585:S185C;ENSP00000345043:S185C	ENSP00000258399:S185C	S	-	2	0	USP37	219119934	1.000000	0.71417	1.000000	0.80357	0.582000	0.36321	3.011000	0.49567	2.506000	0.84524	0.563000	0.77884	TCT	USP37	-	NULL	ENSG00000135913		0.393	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP37	HGNC	protein_coding	OTTHUMT00000256779.3	128	0.00	0	G	NM_020935		219411690	219411690	-1	no_errors	ENST00000258399	ensembl	human	known	69_37n	missense	107	20.74	28	SNP	1.000	C
USP4	7375	genome.wustl.edu	37	3	49349010	49349010	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:49349010G>A	ENST00000265560.4	-	7	819	c.773C>T	c.(772-774)tCt>tTt	p.S258F	USP4_ENST00000488520.1_5'UTR|USP4_ENST00000351842.4_Intron	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	258					negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		TGCAATGAGAGAGGCAGACAC	0.498																																						dbGAP											0													138.0	129.0	132.0					3																	49349010		2203	4300	6503	-	-	-	SO:0001583	missense	0			U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"""Ubiquitin-specific peptidases"""	12627	protein-coding gene	gene with protein product		603486	"""ubiquitin specific protease 4 (proto-oncogene)"""	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.773C>T	3.37:g.49349010G>A	ENSP00000265560:p.Ser258Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6Y0|C9IY91|O43452|O43453|Q08AK8	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19	p.S258F	ENST00000265560.4	37	c.773	CCDS2793.1	3	.	.	.	.	.	.	.	.	.	.	G	17.34	3.363669	0.61513	.	.	ENSG00000114316	ENST00000265560	T	0.21543	2.0	5.39	5.39	0.77823	.	0.423939	0.26692	N	0.022991	T	0.21590	0.0520	L	0.40543	1.245	0.80722	D	1	P	0.45011	0.848	P	0.48166	0.569	T	0.01762	-1.1279	10	0.08381	T	0.77	-17.0731	12.1652	0.54125	0.0832:0.0:0.9168:0.0	.	258	Q13107	UBP4_HUMAN	F	258	ENSP00000265560:S258F	ENSP00000265560:S258F	S	-	2	0	USP4	49324014	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.135000	0.77276	2.525000	0.85131	0.462000	0.41574	TCT	USP4	-	NULL	ENSG00000114316		0.498	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USP4	HGNC	protein_coding	OTTHUMT00000346069.1	91	0.00	0	G	NM_199443		49349010	49349010	-1	no_errors	ENST00000265560	ensembl	human	known	69_37n	missense	125	16.11	24	SNP	1.000	A
USP40	55230	genome.wustl.edu	37	2	234433206	234433206	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:234433206C>T	ENST00000427112.2	-	14	1845	c.1810G>A	c.(1810-1812)Gat>Aat	p.D604N	USP40_ENST00000251722.6_Missense_Mutation_p.D604N|USP40_ENST00000450966.1_Missense_Mutation_p.D616N			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	604					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		GTCAGTTCATCCCCTAGAAAG	0.373																																						dbGAP											0													75.0	69.0	71.0					2																	234433206		1858	4135	5993	-	-	-	SO:0001583	missense	0			AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"""Ubiquitin-specific peptidases"""	20069	protein-coding gene	gene with protein product		610570	"""ubiquitin specific protease 40"""			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.1810G>A	2.37:g.234433206C>T	ENSP00000387898:p.Asp604Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NX38|Q70EL0	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.D616N	ENST00000427112.2	37	c.1846	CCDS46547.1	2	.	.	.	.	.	.	.	.	.	.	C	18.94	3.729880	0.69074	.	.	ENSG00000085982	ENST00000450966;ENST00000251722;ENST00000427112	T;T;T	0.49720	0.77;0.77;0.77	5.68	4.8	0.61643	.	0.551537	0.18618	N	0.135955	T	0.49167	0.1541	M	0.72894	2.215	0.80722	D	1	B;P	0.34562	0.328;0.457	B;B	0.34873	0.093;0.191	T	0.53627	-0.8412	10	0.72032	D	0.01	.	12.4176	0.55502	0.0:0.922:0.0:0.078	.	604;616	Q9NVE5;Q9NVE5-3	UBP40_HUMAN;.	N	616;604;604	ENSP00000415434:D616N;ENSP00000251722:D604N;ENSP00000387898:D604N	ENSP00000251722:D604N	D	-	1	0	USP40	234097945	1.000000	0.71417	0.996000	0.52242	0.982000	0.71751	4.830000	0.62745	1.398000	0.46701	0.563000	0.77884	GAT	USP40	-	NULL	ENSG00000085982		0.373	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	USP40	HGNC	protein_coding	OTTHUMT00000397235.1	114	0.87	1	C	XM_114294		234433206	234433206	-1	no_errors	ENST00000450966	ensembl	human	known	69_37n	missense	106	25.35	36	SNP	1.000	T
USP51	158880	genome.wustl.edu	37	X	55514073	55514073	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:55514073G>C	ENST00000500968.3	-	2	1382	c.1300C>G	c.(1300-1302)Ctg>Gtg	p.L434V	USP51_ENST00000586165.1_5'UTR	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	434	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						ATCCATATCAGATGCAGTAAC	0.458																																						dbGAP											0													77.0	67.0	70.0					X																	55514073		2203	4300	6503	-	-	-	SO:0001583	missense	0			BF741256	CCDS14370.1	Xp11	2009-03-19	2005-08-08		ENSG00000247746	ENSG00000247746		"""Ubiquitin-specific peptidases"""	23086	protein-coding gene	gene with protein product			"""ubiquitin specific protease 51"""			12838346	Standard	NM_201286		Approved		uc004dun.2	Q70EK9	OTTHUMG00000021656	ENST00000500968.3:c.1300C>G	X.37:g.55514073G>C	ENSP00000423333:p.Leu434Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IWJ8	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19	p.L434V	ENST00000500968.3	37	c.1300	CCDS14370.1	X	.	.	.	.	.	.	.	.	.	.	.	12.92	2.083010	0.36758	.	.	ENSG00000247746	ENST00000500968	T	0.29142	1.58	3.04	2.16	0.27623	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.64402	U	0.000003	T	0.40522	0.1120	L	0.48218	1.51	0.58432	D	0.999992	D	0.76494	0.999	D	0.77557	0.99	T	0.11767	-1.0574	10	0.27082	T	0.32	.	7.2689	0.26246	0.1439:0.0:0.8561:0.0	.	434	Q70EK9	UBP51_HUMAN	V	434	ENSP00000423333:L434V	ENSP00000423333:L434V	L	-	1	2	USP51	55530798	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	4.758000	0.62220	0.681000	0.31386	0.508000	0.49915	CTG	USP51	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000247746		0.458	USP51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP51	HGNC	protein_coding	OTTHUMT00000056871.2	79	0.00	0	G	NM_201286		55514073	55514073	-1	no_errors	ENST00000500968	ensembl	human	known	69_37n	missense	68	26.09	24	SNP	1.000	C
USP6NL	9712	genome.wustl.edu	37	10	11505281	11505281	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:11505281G>A	ENST00000609104.1	-	15	2040	c.1646C>T	c.(1645-1647)tCg>tTg	p.S549L	USP6NL_ENST00000277575.5_Missense_Mutation_p.S566L|USP6NL_ENST00000379237.2_Missense_Mutation_p.S572L	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	549					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						GTCGTACTGCGATGCAGTGGA	0.657																																						dbGAP											0													60.0	63.0	62.0					10																	11505281		2098	4209	6307	-	-	-	SO:0001583	missense	0			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.1646C>T	10.37:g.11505281G>A	ENSP00000476462:p.Ser549Leu	Somatic		WXS	Illumina GAIIx	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.S566L	ENST00000609104.1	37	c.1697	CCDS53492.1	10	.	.	.	.	.	.	.	.	.	.	G	27.8	4.868451	0.91587	.	.	ENSG00000148429	ENST00000535316;ENST00000277575;ENST00000379237	T;T	0.11169	2.8;2.82	5.91	5.91	0.95273	.	0.000000	0.64402	D	0.000001	T	0.36413	0.0966	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	T	0.01966	-1.1238	10	0.87932	D	0	.	20.2946	0.98546	0.0:0.0:1.0:0.0	.	549;566	Q92738;Q92738-2	US6NL_HUMAN;.	L	549;566;549	ENSP00000277575:S566L;ENSP00000368539:S549L	ENSP00000277575:S566L	S	-	2	0	USP6NL	11545287	1.000000	0.71417	0.110000	0.21437	0.407000	0.30961	9.056000	0.93881	2.804000	0.96469	0.462000	0.41574	TCG	USP6NL	-	NULL	ENSG00000148429		0.657	USP6NL-001	KNOWN	basic|CCDS	protein_coding	USP6NL	HGNC	protein_coding	OTTHUMT00000046764.3	33	0.00	0	G	NM_014688		11505281	11505281	-1	no_errors	ENST00000277575	ensembl	human	known	69_37n	missense	34	15.00	6	SNP	0.998	A
USP6NL	9712	genome.wustl.edu	37	10	11527872	11527872	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:11527872G>C	ENST00000609104.1	-	11	1097	c.703C>G	c.(703-705)Caa>Gaa	p.Q235E	USP6NL_ENST00000277575.5_Missense_Mutation_p.Q252E|USP6NL_ENST00000379237.2_Missense_Mutation_p.Q258E	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	235	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				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						TGATGTTCTTGAAACCTCAAG	0.378																																						dbGAP											0													84.0	82.0	83.0					10																	11527872		1814	4052	5866	-	-	-	SO:0001583	missense	0			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.703C>G	10.37:g.11527872G>C	ENSP00000476462:p.Gln235Glu	Somatic		WXS	Illumina GAIIx	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.Q252E	ENST00000609104.1	37	c.754	CCDS53492.1	10	.	.	.	.	.	.	.	.	.	.	G	26.4	4.731876	0.89390	.	.	ENSG00000148429	ENST00000535316;ENST00000277575;ENST00000379237	T;T	0.23147	1.92;1.92	5.52	5.52	0.82312	Rab-GAP/TBC domain (5);	0.000000	0.85682	D	0.000000	T	0.55657	0.1934	M	0.84156	2.68	0.80722	D	1	D;D	0.60575	0.988;0.985	D;D	0.69824	0.966;0.943	T	0.55860	-0.8074	10	0.41790	T	0.15	.	19.0188	0.92905	0.0:0.0:1.0:0.0	.	235;252	Q92738;Q92738-2	US6NL_HUMAN;.	E	235;252;235	ENSP00000277575:Q252E;ENSP00000368539:Q235E	ENSP00000277575:Q252E	Q	-	1	0	USP6NL	11567878	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.796000	0.75145	2.585000	0.87301	0.655000	0.94253	CAA	USP6NL	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000148429		0.378	USP6NL-001	KNOWN	basic|CCDS	protein_coding	USP6NL	HGNC	protein_coding	OTTHUMT00000046764.3	123	0.00	0	G	NM_014688		11527872	11527872	-1	no_errors	ENST00000277575	ensembl	human	known	69_37n	missense	93	21.85	26	SNP	1.000	C
USP7	7874	genome.wustl.edu	37	16	9002246	9002246	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:9002246C>T	ENST00000344836.4	-	12	1421	c.1223G>A	c.(1222-1224)aGa>aAa	p.R408K	USP7_ENST00000535863.1_Missense_Mutation_p.R309K|USP7_ENST00000381886.4_Missense_Mutation_p.R392K	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	408	USP.				maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						ATACATAAATCTCATCAGTTG	0.363																																						dbGAP											0													173.0	157.0	163.0					16																	9002246		2197	4300	6497	-	-	-	SO:0001583	missense	0			Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"""Ubiquitin-specific peptidases"""	12630	protein-coding gene	gene with protein product		602519	"""ubiquitin specific protease 7 (herpes virus-associated)"""	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.1223G>A	16.37:g.9002246C>T	ENSP00000343535:p.Arg408Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_MATH,pfam_Pept_C19_dom,superfamily_TRAF-like,smart_MATH,pfscan_MATH,pfscan_Peptidase_C19	p.R408K	ENST00000344836.4	37	c.1223	CCDS32385.1	16	.	.	.	.	.	.	.	.	.	.	C	36	5.734720	0.96865	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000535863;ENST00000544549;ENST00000542333	T;T;T	0.28069	1.63;1.63;1.63	5.85	5.85	0.93711	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.77798	0.4184	H	0.99847	4.84	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88110	0.2825	10	0.87932	D	0	.	20.1577	0.98120	0.0:1.0:0.0:0.0	.	408;392	Q93009;B7Z815	UBP7_HUMAN;.	K	408;416;309;309;350	ENSP00000343535:R408K;ENSP00000443646:R309K;ENSP00000439272:R350K	ENSP00000343535:R408K	R	-	2	0	USP7	8909747	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.668000	0.83897	2.767000	0.95098	0.655000	0.94253	AGA	USP7	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000187555		0.363	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP7	HGNC	protein_coding	OTTHUMT00000434268.2	136	0.00	0	C			9002246	9002246	-1	no_errors	ENST00000344836	ensembl	human	known	69_37n	missense	123	14.58	21	SNP	1.000	T
USP9X	8239	genome.wustl.edu	37	X	40990750	40990750	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:40990750G>C	ENST00000324545.8	+	4	916	c.283G>C	c.(283-285)Gaa>Caa	p.E95Q	USP9X_ENST00000378308.2_Missense_Mutation_p.E95Q	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	95					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						AGGGGAATTAGAAGTGCTTTT	0.343																																					Ovarian(172;1807 2695 35459 49286)	dbGAP											0													153.0	144.0	147.0					X																	40990750		2203	4300	6503	-	-	-	SO:0001583	missense	0			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.283G>C	X.37:g.40990750G>C	ENSP00000316357:p.Glu95Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19	p.E95Q	ENST00000324545.8	37	c.283	CCDS43930.1	X	.	.	.	.	.	.	.	.	.	.	G	24.1	4.492347	0.84962	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.03580	3.89;3.88	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.18467	0.0443	M	0.75264	2.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.974	T	0.00505	-1.1700	10	0.45353	T	0.12	.	17.831	0.88683	0.0:0.0:1.0:0.0	.	95;95	Q93008-1;Q93008	.;USP9X_HUMAN	Q	95	ENSP00000367558:E95Q;ENSP00000316357:E95Q	ENSP00000316357:E95Q	E	+	1	0	USP9X	40875694	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.439000	0.97543	2.230000	0.72887	0.600000	0.82982	GAA	USP9X	-	NULL	ENSG00000124486		0.343	USP9X-003	KNOWN	basic|CCDS	protein_coding	USP9X	HGNC	protein_coding	OTTHUMT00000056250.4	186	0.00	0	G	NM_004652		40990750	40990750	+1	no_errors	ENST00000324545	ensembl	human	known	69_37n	missense	164	17.17	34	SNP	1.000	C
USP9X	8239	genome.wustl.edu	37	X	41048645	41048645	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:41048645G>C	ENST00000324545.8	+	26	4527	c.3894G>C	c.(3892-3894)ttG>ttC	p.L1298F	USP9X_ENST00000378308.2_Missense_Mutation_p.L1298F	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1298					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GTTTTGCCTTGATTCCAACAG	0.393																																					Ovarian(172;1807 2695 35459 49286)	dbGAP											0													168.0	150.0	156.0					X																	41048645		2200	4300	6500	-	-	-	SO:0001583	missense	0			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.3894G>C	X.37:g.41048645G>C	ENSP00000316357:p.Leu1298Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19	p.L1298F	ENST00000324545.8	37	c.3894	CCDS43930.1	X	.	.	.	.	.	.	.	.	.	.	G	19.63	3.864448	0.71949	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.67345	-0.26;-0.26	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.80481	0.4631	M	0.78801	2.425	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.965	T	0.81566	-0.0874	10	0.51188	T	0.08	.	11.9801	0.53115	0.0814:0.0:0.9186:0.0	.	1298;1298	Q93008-1;Q93008	.;USP9X_HUMAN	F	1298	ENSP00000367558:L1298F;ENSP00000316357:L1298F	ENSP00000316357:L1298F	L	+	3	2	USP9X	40933589	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.964000	0.56780	2.314000	0.78098	0.415000	0.27848	TTG	USP9X	-	NULL	ENSG00000124486		0.393	USP9X-003	KNOWN	basic|CCDS	protein_coding	USP9X	HGNC	protein_coding	OTTHUMT00000056250.4	221	0.00	0	G	NM_004652		41048645	41048645	+1	no_errors	ENST00000324545	ensembl	human	known	69_37n	missense	201	19.60	49	SNP	1.000	C
UTP14A	10813	genome.wustl.edu	37	X	129060220	129060220	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:129060220C>G	ENST00000394422.3	+	14	1976	c.1948C>G	c.(1948-1950)Ctc>Gtc	p.L650V	UTP14A_ENST00000371051.5_Missense_Mutation_p.L596V|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000371042.3_Missense_Mutation_p.L482V|UTP14A_ENST00000425117.2_Missense_Mutation_p.L598V	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	650					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						TTCCAGGTTTCTCATTAAAGC	0.488											OREG0019920	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													55.0	58.0	57.0					X																	129060220		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF039694	CCDS14615.1, CCDS55489.1	Xq26.1	2009-01-15	2004-06-01	2004-06-01	ENSG00000156697	ENSG00000156697			10665	protein-coding gene	gene with protein product		300508	"""serologically defined colon cancer antigen 16"""	SDCCAG16		9610721, 16354793	Standard	NM_006649		Approved	NY-CO-16	uc004euz.3	Q9BVJ6	OTTHUMG00000022378	ENST00000394422.3:c.1948C>G	X.37:g.129060220C>G	ENSP00000377944:p.Leu650Val	Somatic	1569	WXS	Illumina GAIIx	Phase_IV	A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Missense_Mutation	SNP	pfam_SSU_processome_Utp14	p.L650V	ENST00000394422.3	37	c.1948	CCDS14615.1	X	.	.	.	.	.	.	.	.	.	.	C	14.38	2.518913	0.44763	.	.	ENSG00000156697	ENST00000425117;ENST00000394422;ENST00000371051;ENST00000371042	T;T;T;T	0.17691	2.26;2.26;2.26;2.26	5.81	4.95	0.65309	.	0.258709	0.39909	N	0.001235	T	0.29716	0.0742	L	0.55017	1.72	0.33149	D	0.545365	B;D;P	0.89917	0.302;1.0;0.524	B;D;P	0.91635	0.421;0.999;0.557	T	0.40459	-0.9562	10	0.20046	T	0.44	-2.756	5.8892	0.18897	0.1558:0.6814:0.0:0.1627	.	596;598;650	F8WD00;E9PEL7;Q9BVJ6	.;.;UT14A_HUMAN	V	598;650;596;482	ENSP00000388669:L598V;ENSP00000377944:L650V;ENSP00000360090:L596V;ENSP00000360081:L482V	ENSP00000360081:L482V	L	+	1	0	UTP14A	128887901	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	1.698000	0.37794	1.198000	0.43158	0.600000	0.82982	CTC	UTP14A	-	pfam_SSU_processome_Utp14	ENSG00000156697		0.488	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UTP14A	HGNC	protein_coding	OTTHUMT00000058221.1	41	0.00	0	C	NM_006649		129060220	129060220	+1	no_errors	ENST00000394422	ensembl	human	known	69_37n	missense	31	20.51	8	SNP	1.000	G
UTP3	57050	genome.wustl.edu	37	4	71555085	71555085	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:71555085G>C	ENST00000254803.2	+	1	890	c.691G>C	c.(691-693)Gaa>Caa	p.E231Q		NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)	231					brain development (GO:0007420)|chromatin modification (GO:0016568)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			GGAGCTGATAGAAGACCTGAA	0.458																																						dbGAP											0													77.0	77.0	77.0					4																	71555085		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL136590	CCDS3546.1	4q13.3	2008-02-05			ENSG00000132467	ENSG00000132467			24477	protein-coding gene	gene with protein product	"""disrupter of silencing 10"""	611614				12477932	Standard	NM_020368		Approved	FLJ23256, DKFZp761F222, SAS10, CRLZ1	uc003hfo.3	Q9NQZ2	OTTHUMG00000129911	ENST00000254803.2:c.691G>C	4.37:g.71555085G>C	ENSP00000254803:p.Glu231Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6FI82	Missense_Mutation	SNP	pfam_Sas10_C,pfam_Sas10/Utp3/C1D	p.E231Q	ENST00000254803.2	37	c.691	CCDS3546.1	4	.	.	.	.	.	.	.	.	.	.	G	9.421	1.083045	0.20309	.	.	ENSG00000132467	ENST00000254803	T	0.31247	1.5	5.5	5.5	0.81552	.	0.311910	0.35615	N	0.003084	T	0.18841	0.0452	N	0.10972	0.075	0.44685	D	0.997671	B	0.15719	0.014	B	0.20955	0.032	T	0.06881	-1.0802	10	0.29301	T	0.29	-9.8852	14.355	0.66730	0.0:0.2712:0.7288:0.0	.	231	Q9NQZ2	SAS10_HUMAN	Q	231	ENSP00000254803:E231Q	ENSP00000254803:E231Q	E	+	1	0	UTP3	71773949	1.000000	0.71417	0.998000	0.56505	0.892000	0.51952	3.093000	0.50217	2.576000	0.86940	0.650000	0.86243	GAA	UTP3	-	pfam_Sas10/Utp3/C1D	ENSG00000132467		0.458	UTP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP3	HGNC	protein_coding	OTTHUMT00000252163.2	32	0.00	0	G	NM_020368		71555085	71555085	+1	no_errors	ENST00000254803	ensembl	human	known	69_37n	missense	24	22.58	7	SNP	0.956	C
UTRN	7402	genome.wustl.edu	37	6	145148791	145148791	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:145148791G>C	ENST00000367545.3	+	67	9578	c.9578G>C	c.(9577-9579)aGa>aCa	p.R3193T	UTRN_ENST00000367526.4_Missense_Mutation_p.R748T	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	3193					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)		ACCCATTCAAGAATAGAACAA	0.358																																						dbGAP											0													83.0	80.0	81.0					6																	145148791		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.9578G>C	6.37:g.145148791G>C	ENSP00000356515:p.Arg3193Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	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.R3193T	ENST00000367545.3	37	c.9578	CCDS34547.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.6|22.6	4.305179|4.305179	0.81247|0.81247	.|.	.|.	ENSG00000152818|ENSG00000152818	ENST00000367524|ENST00000367545;ENST00000367526;ENST00000545166;ENST00000432686;ENST00000417142;ENST00000455022	.|D;D;D;D;D	.|0.88896	.|-2.44;-2.44;-2.44;-2.44;-2.44	5.78|5.78	4.9|4.9	0.64082|0.64082	.|.	.|0.000000	.|0.56097	.|D	.|0.000038	D|D	0.93549|0.93549	0.7941|0.7941	M|M	0.82923|0.82923	2.615|2.615	0.40755|0.40755	D|D	0.982957|0.982957	.|D	.|0.57899	.|0.981	.|D	.|0.68039	.|0.955	D|D	0.94088|0.94088	0.7350|0.7350	5|10	.|0.87932	.|D	.|0	.|.	15.2322|15.2322	0.73401|0.73401	0.0686:0.0:0.9314:0.0|0.0686:0.0:0.9314:0.0	.|.	.|3193	.|P46939	.|UTRO_HUMAN	Q|T	224|3193;748;139;152;139;105	.|ENSP00000356515:R3193T;ENSP00000356496:R748T;ENSP00000398923:R152T;ENSP00000404205:R139T;ENSP00000387927:R105T	.|ENSP00000356496:R748T	E|R	+|+	1|2	0|0	UTRN|UTRN	145190484|145190484	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.879000|0.879000	0.50718|0.50718	7.779000|7.779000	0.85648|0.85648	2.722000|2.722000	0.93159|0.93159	0.557000|0.557000	0.71058|0.71058	GAA|AGA	UTRN	-	pirsf_Dystrophin/utrophin	ENSG00000152818		0.358	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTRN	HGNC	protein_coding	OTTHUMT00000042551.1	90	0.00	0	G			145148791	145148791	+1	no_errors	ENST00000367545	ensembl	human	known	69_37n	missense	53	30.26	23	SNP	1.000	C
VAMP4	8674	genome.wustl.edu	37	1	171707524	171707524	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:171707524C>T	ENST00000236192.7	-	2	417	c.31G>A	c.(31-33)Gat>Aat	p.D11N	VAMP4_ENST00000415773.1_Missense_Mutation_p.D11N|VAMP4_ENST00000367740.2_Missense_Mutation_p.D11N|VAMP4_ENST00000482519.1_5'UTR	NM_001185127.1|NM_003762.4	NP_001172056.1|NP_003753.2	O75379	VAMP4_HUMAN	vesicle-associated membrane protein 4	11					Golgi to plasma membrane protein transport (GO:0043001)|regulation of Golgi to plasma membrane protein transport (GO:0042996)|SNARE complex assembly (GO:0035493)	cell surface (GO:0009986)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|SNARE complex (GO:0031201)|trans-Golgi network (GO:0005802)				large_intestine(4)	4	all_cancers(6;1.42e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					ACATCATCATCATTGAGGTGG	0.343																																						dbGAP											0													123.0	119.0	120.0					1																	171707524		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF044310	CCDS1298.1, CCDS53430.1	1q24-q25	2013-02-13			ENSG00000117533	ENSG00000117533		"""Vesicle-associated membrane proteins"""	12645	protein-coding gene	gene with protein product		606909				9553086	Standard	NM_003762		Approved		uc001ghx.2	O75379	OTTHUMG00000034788	ENST00000236192.7:c.31G>A	1.37:g.171707524C>T	ENSP00000236192:p.Asp11Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A2IDD8|Q96IY9|Q96J20|Q9UEL7	Missense_Mutation	SNP	pfam_Synaptobrevin,prints_Synaptobrevin,pfscan_Synaptobrevin	p.D11N	ENST00000236192.7	37	c.31	CCDS1298.1	1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.883632	0.91740	.	.	ENSG00000117533	ENST00000236192;ENST00000415773;ENST00000367740	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.44623	0.1302	L	0.46157	1.445	0.80722	D	1	P;P	0.45531	0.73;0.86	B;B	0.43082	0.194;0.407	T	0.31052	-0.9957	9	0.28530	T	0.3	.	17.8952	0.88886	0.0:1.0:0.0:0.0	.	11;11	O75379-2;O75379	.;VAMP4_HUMAN	N	11	.	ENSP00000236192:D11N	D	-	1	0	VAMP4	169974147	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.497000	0.66924	2.819000	0.97034	0.585000	0.79938	GAT	VAMP4	-	NULL	ENSG00000117533		0.343	VAMP4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VAMP4	HGNC	protein_coding	OTTHUMT00000304033.2	205	0.00	0	C	NM_003762		171707524	171707524	-1	no_errors	ENST00000236192	ensembl	human	known	69_37n	missense	231	16.30	45	SNP	1.000	T
VAPB	9217	genome.wustl.edu	37	20	57016007	57016007	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:57016007G>C	ENST00000475243.1	+	5	779	c.441G>C	c.(439-441)aaG>aaC	p.K147N	VAPB_ENST00000395802.3_Intron|VAPB_ENST00000265619.2_3'UTR	NM_004738.4	NP_004729.1	O95292	VAPB_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein B and C	147					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|endoplasmic reticulum unfolded protein response (GO:0030968)|modulation by virus of host morphology or physiology (GO:0019048)|positive regulation of viral genome replication (GO:0045070)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-tubulin binding (GO:0048487)|enzyme binding (GO:0019899)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|structural molecule activity (GO:0005198)			kidney(2)|lung(3)|prostate(1)	6	Lung NSC(12;0.000615)|all_lung(29;0.00186)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07)			CTGCATCAAAGACAGAAACAC	0.363																																						dbGAP											0													57.0	56.0	56.0					20																	57016007		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF086628	CCDS33498.1, CCDS56198.1	20q13	2014-09-17			ENSG00000124164	ENSG00000124164			12649	protein-coding gene	gene with protein product		605704				9920726	Standard	NM_004738		Approved	VAP-B, VAP-C, ALS8	uc002xza.3	O95292	OTTHUMG00000032840	ENST00000475243.1:c.441G>C	20.37:g.57016007G>C	ENSP00000417175:p.Lys147Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2F2|O95293|Q9P0H0	Missense_Mutation	SNP	pfam_Major_sperm,superfamily_PapD-like,pirsf_Vesicle-associated_membrane,pfscan_Major_sperm	p.K147N	ENST00000475243.1	37	c.441	CCDS33498.1	20	.	.	.	.	.	.	.	.	.	.	G	15.95	2.983199	0.53827	.	.	ENSG00000124164	ENST00000475243	T	0.33865	1.39	5.66	5.66	0.87406	.	0.048378	0.85682	D	0.000000	T	0.60830	0.2299	M	0.82056	2.57	0.80722	D	1	P;D	0.76494	0.525;0.999	B;D	0.80764	0.25;0.994	T	0.57768	-0.7754	10	0.27785	T	0.31	-20.5501	15.2569	0.73593	0.0:0.1397:0.8603:0.0	.	24;147	B4DNS4;O95292	.;VAPB_HUMAN	N	147	ENSP00000417175:K147N	ENSP00000417175:K147N	K	+	3	2	VAPB	56449413	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.541000	0.82084	2.673000	0.90976	0.650000	0.86243	AAG	VAPB	-	pirsf_Vesicle-associated_membrane	ENSG00000124164		0.363	VAPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAPB	HGNC	protein_coding	OTTHUMT00000079875.2	53	0.00	0	G			57016007	57016007	+1	no_errors	ENST00000475243	ensembl	human	known	69_37n	missense	76	24.00	24	SNP	1.000	C
VCAN	1462	genome.wustl.edu	37	5	82837299	82837299	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:82837299C>T	ENST00000265077.3	+	8	9042	c.8477C>T	c.(8476-8478)tCa>tTa	p.S2826L	VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.S1839L|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2826	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	CAGACACCATCATCTCCCCTC	0.493																																						dbGAP											0													119.0	114.0	116.0					5																	82837299		2203	4300	6503	-	-	-	SO:0001583	missense	0			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.8477C>T	5.37:g.82837299C>T	ENSP00000265077:p.Ser2826Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EGF-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EGF-like,smart_EGF-like_Ca-bd,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.S2826L	ENST00000265077.3	37	c.8477	CCDS4060.1	5	.	.	.	.	.	.	.	.	.	.	C	17.58	3.424791	0.62733	.	.	ENSG00000038427	ENST00000265077;ENST00000343200	D;D	0.86164	-2.06;-2.08	6.07	5.16	0.70880	.	0.260813	0.28006	N	0.016966	D	0.89424	0.6711	L	0.59436	1.845	0.50813	D	0.999896	P;D	0.63880	0.775;0.993	B;P	0.56343	0.306;0.796	D	0.88597	0.3147	10	0.49607	T	0.09	.	12.484	0.55861	0.3056:0.6944:0.0:0.0	.	1839;2826	P13611-2;P13611	.;CSPG2_HUMAN	L	2826;1839	ENSP00000265077:S2826L;ENSP00000340062:S1839L	ENSP00000265077:S2826L	S	+	2	0	VCAN	82873055	0.437000	0.25593	0.025000	0.17156	0.003000	0.03518	2.750000	0.47500	2.885000	0.99019	0.655000	0.94253	TCA	VCAN	-	NULL	ENSG00000038427		0.493	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3	82	0.00	0	C	NM_004385		82837299	82837299	+1	no_errors	ENST00000265077	ensembl	human	known	69_37n	missense	60	23.08	18	SNP	0.118	T
VCX3B	425054	genome.wustl.edu	37	X	8434325	8434325	+	Silent	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:8434325G>T	ENST00000381032.1	+	3	949	c.642G>T	c.(640-642)ctG>ctT	p.L214L	VCX3B_ENST00000440654.2_Silent_p.L164L|VCX3B_ENST00000381029.4_Silent_p.L182L|VCX3B_ENST00000453306.1_Intron|VCX3B_ENST00000444481.1_Silent_p.L184L	NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN	variable charge, X-linked 3B	214	14 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.					nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						AAGAACCACTGAGTCAGGAGA	0.552																																						dbGAP											0													78.0	133.0	114.0					X																	8434325		2183	4245	6428	-	-	-	SO:0001819	synonymous_variant	0				CCDS48077.1, CCDS48077.2	Xp22.31	2009-01-14			ENSG00000205642	ENSG00000205642			31838	protein-coding gene	gene with protein product							Standard	NM_001001888		Approved	VCX-C	uc011mht.2	Q9H321	OTTHUMG00000021106	ENST00000381032.1:c.642G>T	X.37:g.8434325G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JS46|Q4KN12	Silent	SNP	NULL	p.L184	ENST00000381032.1	37	c.552	CCDS48077.2	X																																																																																			VCX3B	-	NULL	ENSG00000205642		0.552	VCX3B-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	VCX3B	HGNC	protein_coding	OTTHUMT00000055691.1	227	0.00	0	G			8434325	8434325	+1	no_errors	ENST00000444481	ensembl	human	known	69_37n	silent	191	21.72	53	SNP	0.004	T
VEPH1	79674	genome.wustl.edu	37	3	157213079	157213079	+	Silent	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:157213079G>T	ENST00000362010.2	-	2	367	c.60C>A	c.(58-60)ctC>ctA	p.L20L	VEPH1_ENST00000543418.1_Silent_p.L20L|VEPH1_ENST00000468233.1_Silent_p.L20L|VEPH1_ENST00000537559.1_Silent_p.L20L|VEPH1_ENST00000392833.2_Silent_p.L20L|VEPH1_ENST00000494677.1_Silent_p.L20L|VEPH1_ENST00000392832.2_Silent_p.L20L	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	20						plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			CTAAGGAGAAGAGGTCCCCAG	0.413																																						dbGAP											0													143.0	145.0	144.0					3																	157213079		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.60C>A	3.37:g.157213079G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Silent	SNP	pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.L20	ENST00000362010.2	37	c.60	CCDS3179.1	3																																																																																			VEPH1	-	NULL	ENSG00000197415		0.413	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VEPH1	HGNC	protein_coding	OTTHUMT00000351845.3	121	0.00	0	G	NM_024621		157213079	157213079	-1	no_errors	ENST00000362010	ensembl	human	known	69_37n	silent	110	20.86	29	SNP	1.000	T
VEZT	55591	genome.wustl.edu	37	12	95645764	95645764	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:95645764G>A	ENST00000436874.1	+	2	190	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K	VEZT_ENST00000261219.6_5'UTR|VEZT_ENST00000356859.4_3'UTR	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	29					chordate embryonic development (GO:0043009)|single organismal cell-cell adhesion (GO:0016337)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stereocilia ankle link complex (GO:0002142)				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						CACAGACTTTGAAATATGTTC	0.363																																						dbGAP											0													126.0	121.0	123.0					12																	95645764		1852	4088	5940	-	-	-	SO:0001583	missense	0			AF216644	CCDS44954.1	12q22	2011-02-15			ENSG00000028203	ENSG00000028203			18258	protein-coding gene	gene with protein product						11080149, 16199027, 21156161	Standard	NM_017599		Approved	DKFZP761C241	uc001tdz.2	Q9HBM0	OTTHUMG00000170182	ENST00000436874.1:c.85G>A	12.37:g.95645764G>A	ENSP00000410083:p.Glu29Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P1Q3|Q9H2F4|Q9H2U5|Q9NT70|Q9NVW0|Q9UF91	Missense_Mutation	SNP	NULL	p.E29K	ENST00000436874.1	37	c.85	CCDS44954.1	12	.	.	.	.	.	.	.	.	.	.	G	28.7	4.943616	0.92593	.	.	ENSG00000028203	ENST00000436874;ENST00000549002;ENST00000551472;ENST00000552821;ENST00000397796	T;T;T	0.64991	1.42;0.13;-0.13	5.76	5.76	0.90799	.	0.000000	0.85682	U	0.000000	T	0.78168	0.4241	M	0.68952	2.095	0.80722	D	1	D;D	0.69078	0.997;0.993	D;D	0.72625	0.92;0.978	T	0.79225	-0.1891	10	0.72032	D	0.01	-35.9006	17.7301	0.88375	0.0:0.0:1.0:0.0	.	29;29	C9J154;Q9HBM0	.;VEZA_HUMAN	K	29;29;48;20;29	ENSP00000410083:E29K;ENSP00000449591:E29K;ENSP00000449701:E48K	ENSP00000380898:E29K	E	+	1	0	VEZT	94169895	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.202000	0.77856	2.721000	0.93114	0.655000	0.94253	GAA	VEZT	-	NULL	ENSG00000028203		0.363	VEZT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VEZT	HGNC	protein_coding	OTTHUMT00000407804.2	154	0.65	1	G	NM_017599		95645764	95645764	+1	no_errors	ENST00000436874	ensembl	human	known	69_37n	missense	117	17.61	25	SNP	1.000	A
VEZT	55591	genome.wustl.edu	37	12	95689902	95689902	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:95689902G>A	ENST00000436874.1	+	11	1804	c.1699G>A	c.(1699-1701)Gaa>Aaa	p.E567K	VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Missense_Mutation_p.E519K	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	567					chordate embryonic development (GO:0043009)|single organismal cell-cell adhesion (GO:0016337)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stereocilia ankle link complex (GO:0002142)				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						CTTGTCTCAAGAAGACAAAGA	0.358																																						dbGAP											0													44.0	42.0	42.0					12																	95689902		1808	4078	5886	-	-	-	SO:0001583	missense	0			AF216644	CCDS44954.1	12q22	2011-02-15			ENSG00000028203	ENSG00000028203			18258	protein-coding gene	gene with protein product						11080149, 16199027, 21156161	Standard	NM_017599		Approved	DKFZP761C241	uc001tdz.2	Q9HBM0	OTTHUMG00000170182	ENST00000436874.1:c.1699G>A	12.37:g.95689902G>A	ENSP00000410083:p.Glu567Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P1Q3|Q9H2F4|Q9H2U5|Q9NT70|Q9NVW0|Q9UF91	Missense_Mutation	SNP	NULL	p.E567K	ENST00000436874.1	37	c.1699	CCDS44954.1	12	.	.	.	.	.	.	.	.	.	.	G	27.2	4.811111	0.90707	.	.	ENSG00000028203	ENST00000436874;ENST00000261219;ENST00000397792;ENST00000397796	T;T;T	0.20881	2.05;2.04;2.04	5.56	5.56	0.83823	.	0.046342	0.85682	D	0.000000	T	0.44746	0.1308	M	0.61703	1.905	0.45718	D	0.998623	D	0.76494	0.999	D	0.63283	0.913	T	0.28490	-1.0042	10	0.72032	D	0.01	-20.0084	19.876	0.96870	0.0:0.0:1.0:0.0	.	567	Q9HBM0	VEZA_HUMAN	K	567;519;523;567	ENSP00000410083:E567K;ENSP00000261219:E519K;ENSP00000380894:E523K	ENSP00000261219:E519K	E	+	1	0	VEZT	94214033	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.578000	0.74032	2.763000	0.94921	0.650000	0.86243	GAA	VEZT	-	NULL	ENSG00000028203		0.358	VEZT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VEZT	HGNC	protein_coding	OTTHUMT00000407804.2	82	0.00	0	G	NM_017599		95689902	95689902	+1	no_errors	ENST00000436874	ensembl	human	known	69_37n	missense	67	14.10	11	SNP	1.000	A
VEZT	55591	genome.wustl.edu	37	12	95694019	95694019	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:95694019G>T	ENST00000436874.1	+	12	2015	c.1910G>T	c.(1909-1911)gGa>gTa	p.G637V	VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Missense_Mutation_p.G589V	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	637					chordate embryonic development (GO:0043009)|single organismal cell-cell adhesion (GO:0016337)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stereocilia ankle link complex (GO:0002142)				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						TCAGATATGGGAAAAGTCAGT	0.343																																						dbGAP											0													29.0	26.0	27.0					12																	95694019		1829	4083	5912	-	-	-	SO:0001583	missense	0			AF216644	CCDS44954.1	12q22	2011-02-15			ENSG00000028203	ENSG00000028203			18258	protein-coding gene	gene with protein product						11080149, 16199027, 21156161	Standard	NM_017599		Approved	DKFZP761C241	uc001tdz.2	Q9HBM0	OTTHUMG00000170182	ENST00000436874.1:c.1910G>T	12.37:g.95694019G>T	ENSP00000410083:p.Gly637Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P1Q3|Q9H2F4|Q9H2U5|Q9NT70|Q9NVW0|Q9UF91	Missense_Mutation	SNP	NULL	p.G637V	ENST00000436874.1	37	c.1910	CCDS44954.1	12	.	.	.	.	.	.	.	.	.	.	G	14.11	2.437386	0.43224	.	.	ENSG00000028203	ENST00000436874;ENST00000261219;ENST00000397792;ENST00000397796	T;T;T	0.14022	2.54;2.54;2.54	6.16	3.33	0.38152	.	0.464185	0.25885	N	0.027671	T	0.11580	0.0282	L	0.29908	0.895	0.39324	D	0.965307	P	0.39216	0.664	B	0.41860	0.368	T	0.09773	-1.0659	10	0.54805	T	0.06	-11.9264	7.9851	0.30207	0.4222:0.0:0.5778:0.0	.	637	Q9HBM0	VEZA_HUMAN	V	637;589;593;637	ENSP00000410083:G637V;ENSP00000261219:G589V;ENSP00000380894:G593V	ENSP00000261219:G589V	G	+	2	0	VEZT	94218150	0.990000	0.36364	0.714000	0.30535	0.991000	0.79684	1.018000	0.30002	0.915000	0.36847	0.650000	0.86243	GGA	VEZT	-	NULL	ENSG00000028203		0.343	VEZT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VEZT	HGNC	protein_coding	OTTHUMT00000407804.2	55	0.00	0	G	NM_017599		95694019	95694019	+1	no_errors	ENST00000436874	ensembl	human	known	69_37n	missense	30	19.51	8	SNP	0.266	T
VIL1	7429	genome.wustl.edu	37	2	219297647	219297647	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:219297647C>G	ENST00000248444.5	+	13	1561	c.1473C>G	c.(1471-1473)atC>atG	p.I491M	VIL1_ENST00000392114.2_Missense_Mutation_p.I180M	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	491	Core.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTATGTCCATCTTCAAGGGAC	0.552																																						dbGAP											0													132.0	91.0	105.0					2																	219297647		2203	4300	6503	-	-	-	SO:0001583	missense	0			X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.1473C>G	2.37:g.219297647C>G	ENSP00000248444:p.Ile491Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9A7|Q53S11|Q96AC8	Missense_Mutation	SNP	pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,prints_Gelsolin,pfscan_Villin_headpiece	p.I491M	ENST00000248444.5	37	c.1473	CCDS2417.1	2	.	.	.	.	.	.	.	.	.	.	C	11.82	1.753490	0.31046	.	.	ENSG00000127831	ENST00000248444;ENST00000392114;ENST00000419986	T;T;T	0.18657	2.47;2.47;2.2	4.66	4.66	0.58398	.	0.067916	0.53938	D	0.000050	T	0.19565	0.0470	L	0.46819	1.47	0.80722	D	1	P	0.35507	0.506	B	0.35114	0.196	T	0.02358	-1.1171	10	0.38643	T	0.18	-29.1258	11.8845	0.52594	0.0:0.9147:0.0:0.0853	.	491	P09327	VILI_HUMAN	M	491;180;60	ENSP00000248444:I491M;ENSP00000375962:I180M;ENSP00000394030:I60M	ENSP00000248444:I491M	I	+	3	3	VIL1	219005891	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	0.858000	0.27845	2.422000	0.82143	0.561000	0.74099	ATC	VIL1	-	smart_Gelsolin,prints_Gelsolin	ENSG00000127831		0.552	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VIL1	HGNC	protein_coding	OTTHUMT00000256778.3	65	0.00	0	C	NM_007127		219297647	219297647	+1	no_errors	ENST00000248444	ensembl	human	known	69_37n	missense	79	16.84	16	SNP	1.000	G
VIM	7431	genome.wustl.edu	37	10	17275622	17275622	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:17275622G>A	ENST00000224237.5	+	3	806	c.661G>A	c.(661-663)Gaa>Aaa	p.E221K	VIM_ENST00000544301.1_Missense_Mutation_p.E221K|RP11-124N14.3_ENST00000456355.1_RNA			P08670	VIME_HUMAN	vimentin	221	Coil 1B.|Rod.				apoptotic process (GO:0006915)|astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular component movement (GO:0006928)|intermediate filament organization (GO:0045109)|lens fiber cell development (GO:0070307)|muscle filament sliding (GO:0030049)|negative regulation of neuron projection development (GO:0010977)|positive regulation of gene expression (GO:0010628)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|neuron projection (GO:0043005)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	double-stranded RNA binding (GO:0003725)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCTTGACCTTGAACGCAAAGT	0.423																																						dbGAP											0													86.0	78.0	81.0					10																	17275622		2203	4300	6503	-	-	-	SO:0001583	missense	0			M14144	CCDS7120.1	10p13	2013-01-16			ENSG00000026025	ENSG00000026025		"""Intermediate filaments type III"""	12692	protein-coding gene	gene with protein product		193060					Standard	NM_003380		Approved		uc001iou.2	P08670	OTTHUMG00000017744	ENST00000224237.5:c.661G>A	10.37:g.17275622G>A	ENSP00000224237:p.Glu221Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B0YJC2|D3DRU4|Q15867|Q15868|Q15869|Q548L2|Q6LER9|Q8N850|Q96ML2|Q9NTM3	Missense_Mutation	SNP	pfam_F,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin	p.E221K	ENST00000224237.5	37	c.661	CCDS7120.1	10	.	.	.	.	.	.	.	.	.	.	G	37	6.109972	0.97291	.	.	ENSG00000026025	ENST00000544301;ENST00000224237;ENST00000545533;ENST00000421459	D;D;D	0.92647	-3.08;-3.08;-3.08	6.14	6.14	0.99180	Filament (1);	0.000000	0.47455	D	0.000240	D	0.97826	0.9286	H	0.98005	4.125	0.80722	D	1	D;P;D;D;D	0.71674	0.988;0.817;0.998;0.994;0.995	P;P;D;D;P	0.66497	0.894;0.62;0.944;0.913;0.894	D	0.98220	1.0477	10	0.87932	D	0	.	20.819	0.99723	0.0:0.0:1.0:0.0	.	221;208;208;221;221	Q53HU8;F5H288;B3KRK8;B0YJC4;P08670	.;.;.;.;VIME_HUMAN	K	221;221;208;47	ENSP00000446007:E221K;ENSP00000224237:E221K;ENSP00000391842:E47K	ENSP00000224237:E221K	E	+	1	0	VIM	17315628	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	9.789000	0.99068	2.927000	0.99377	0.637000	0.83480	GAA	VIM	-	pfam_F	ENSG00000026025		0.423	VIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VIM	HGNC	protein_coding	OTTHUMT00000047015.1	76	0.00	0	G	NM_003380		17275622	17275622	+1	no_errors	ENST00000224237	ensembl	human	known	69_37n	missense	54	14.29	9	SNP	1.000	A
VIPR2	7434	genome.wustl.edu	37	7	158935171	158935171	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:158935171C>T	ENST00000262178.2	-	2	303	c.118G>A	c.(118-120)Gag>Aag	p.E40K	VIPR2_ENST00000421760.2_Missense_Mutation_p.E40K|VIPR2_ENST00000402066.1_Missense_Mutation_p.E181K	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	40					activation of adenylate cyclase activity (GO:0007190)|cell-cell signaling (GO:0007267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		CTCAGAAGCTCTGCACATTTT	0.438																																					Pancreas(154;1876 1931 2329 17914 20079)	dbGAP											0													229.0	209.0	216.0					7																	158935171		2203	4298	6501	-	-	-	SO:0001583	missense	0			CA449700, X95097	CCDS5950.1	7q36.3	2012-08-10			ENSG00000106018	ENSG00000106018		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	12695	protein-coding gene	gene with protein product	"""VIP and PACAP receptor 2"""	601970				7811244	Standard	NM_003382		Approved	VPAC2, VPAC2R	uc003woh.3	P41587	OTTHUMG00000151446	ENST00000262178.2:c.118G>A	7.37:g.158935171C>T	ENSP00000262178:p.Glu40Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13053|Q15870|Q53Y09|Q6ZN22|Q9UCW0	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_VIP_rcpt_2,prints_GPCR_2_secretin-like,prints_GPCR_2_VIP_rcpt	p.E40K	ENST00000262178.2	37	c.118	CCDS5950.1	7	.	.	.	.	.	.	.	.	.	.	C	14.98	2.696610	0.48202	.	.	ENSG00000106018	ENST00000262178;ENST00000402066;ENST00000421760	T;T;T	0.55413	0.62;0.62;0.52	4.94	3.09	0.35607	GPCR, family 2, extracellular hormone receptor domain (1);	0.419679	0.19555	N	0.111466	T	0.37073	0.0990	L	0.35723	1.085	0.28450	N	0.916384	B	0.10296	0.003	B	0.06405	0.002	T	0.17048	-1.0382	9	.	.	.	.	6.8153	0.23826	0.0:0.7902:0.0:0.2097	.	40	P41587	VIPR2_HUMAN	K	40;181;40	ENSP00000262178:E40K;ENSP00000384497:E181K;ENSP00000402690:E40K	.	E	-	1	0	VIPR2	158627932	0.663000	0.27448	0.913000	0.36048	0.933000	0.57130	1.268000	0.33062	1.210000	0.43336	0.591000	0.81541	GAG	VIPR2	-	pfscan_GPCR_2_extracellular_dom,prints_GPCR_2_VIP_rcpt_2	ENSG00000106018		0.438	VIPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VIPR2	HGNC	protein_coding	OTTHUMT00000322675.1	192	0.00	0	C	NM_003382		158935171	158935171	-1	no_errors	ENST00000262178	ensembl	human	known	69_37n	missense	142	26.42	51	SNP	0.512	T
VIPR2	7434	genome.wustl.edu	37	7	158935192	158935192	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:158935192C>T	ENST00000262178.2	-	2	282	c.97G>A	c.(97-99)Gag>Aag	p.E33K	VIPR2_ENST00000421760.2_Missense_Mutation_p.E33K|VIPR2_ENST00000402066.1_Missense_Mutation_p.E174K	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	33					activation of adenylate cyclase activity (GO:0007190)|cell-cell signaling (GO:0007267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		GTTTCTTCCTCCTGTATTTCC	0.398																																					Pancreas(154;1876 1931 2329 17914 20079)	dbGAP											0													210.0	197.0	202.0					7																	158935192		2203	4298	6501	-	-	-	SO:0001583	missense	0			CA449700, X95097	CCDS5950.1	7q36.3	2012-08-10			ENSG00000106018	ENSG00000106018		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	12695	protein-coding gene	gene with protein product	"""VIP and PACAP receptor 2"""	601970				7811244	Standard	NM_003382		Approved	VPAC2, VPAC2R	uc003woh.3	P41587	OTTHUMG00000151446	ENST00000262178.2:c.97G>A	7.37:g.158935192C>T	ENSP00000262178:p.Glu33Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13053|Q15870|Q53Y09|Q6ZN22|Q9UCW0	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_VIP_rcpt_2,prints_GPCR_2_secretin-like,prints_GPCR_2_VIP_rcpt	p.E33K	ENST00000262178.2	37	c.97	CCDS5950.1	7	.	.	.	.	.	.	.	.	.	.	C	7.692	0.691330	0.15039	.	.	ENSG00000106018	ENST00000262178;ENST00000402066;ENST00000421760	T;T;T	0.53640	0.61;0.61;0.78	5.09	4.21	0.49690	.	0.129587	0.34133	N	0.004229	T	0.31513	0.0799	L	0.27053	0.805	0.35846	D	0.826403	B	0.06786	0.001	B	0.04013	0.001	T	0.27673	-1.0067	9	.	.	.	.	9.6764	0.40043	0.0:0.9026:0.0:0.0974	.	33	P41587	VIPR2_HUMAN	K	33;174;33	ENSP00000262178:E33K;ENSP00000384497:E174K;ENSP00000402690:E33K	.	E	-	1	0	VIPR2	158627953	0.897000	0.30589	0.990000	0.47175	0.998000	0.95712	0.734000	0.26101	1.271000	0.44313	0.591000	0.81541	GAG	VIPR2	-	prints_GPCR_2_VIP_rcpt_2	ENSG00000106018		0.398	VIPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VIPR2	HGNC	protein_coding	OTTHUMT00000322675.1	187	0.00	0	C	NM_003382		158935192	158935192	-1	no_errors	ENST00000262178	ensembl	human	known	69_37n	missense	154	17.65	33	SNP	0.984	T
VMO1	284013	genome.wustl.edu	37	17	4689248	4689248	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:4689248C>G	ENST00000328739.5	-	2	374	c.295G>C	c.(295-297)Gag>Cag	p.E99Q	VMO1_ENST00000416307.2_Intron|VMO1_ENST00000441199.2_Missense_Mutation_p.E99Q|VMO1_ENST00000354194.4_Intron	NM_182566.2	NP_872372.1	Q7Z5L0	VMO1_HUMAN	vitelline membrane outer layer 1 homolog (chicken)	99						extracellular vesicular exosome (GO:0070062)		p.E99Q(1)		kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|pancreas(1)	11						GACTGGGACTCTACCACGTGC	0.612																																						dbGAP											1	Substitution - Missense(1)	lung(1)											529.0	483.0	498.0					17																	4689248		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF521892	CCDS11055.1, CCDS45585.1, CCDS45586.1, CCDS45587.1	17p13.2	2013-03-07	2005-11-14						30387	protein-coding gene	gene with protein product						22025569	Standard	NM_182566		Approved		uc002fyx.3	Q7Z5L0		ENST00000328739.5:c.295G>C	17.37:g.4689248C>G	ENSP00000328397:p.Glu99Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JQ15|E9PAU9|E9PGP4|Q3SXP1|Q8IUY1	Missense_Mutation	SNP	pfam_VOMI,superfamily_VOMI	p.E99Q	ENST00000328739.5	37	c.295	CCDS11055.1	17	.	.	.	.	.	.	.	.	.	.	C	6.887	0.533143	0.13188	.	.	ENSG00000182853	ENST00000328739;ENST00000441199	T;T	0.42513	0.97;0.97	4.58	2.6	0.31112	.	0.318240	0.32868	N	0.005541	T	0.31827	0.0809	L	0.49256	1.55	0.80722	D	1	B;B	0.20164	0.042;0.031	B;B	0.19148	0.024;0.013	T	0.07654	-1.0761	10	0.28530	T	0.3	-32.5187	6.3022	0.21119	0.0:0.7127:0.1868:0.1005	.	99;99	C9JQ15;Q7Z5L0	.;VMO1_HUMAN	Q	99	ENSP00000328397:E99Q;ENSP00000408166:E99Q	ENSP00000328397:E99Q	E	-	1	0	VMO1	4635988	0.977000	0.34250	0.974000	0.42286	0.000000	0.00434	2.532000	0.45659	0.571000	0.29365	-0.978000	0.02582	GAG	VMO1	-	pfam_VOMI,superfamily_VOMI	ENSG00000182853		0.612	VMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VMO1	HGNC	protein_coding	OTTHUMT00000439587.1	26	0.00	0	C	NM_182566		4689248	4689248	-1	no_errors	ENST00000328739	ensembl	human	known	69_37n	missense	36	28.00	14	SNP	0.998	G
VN1R1	57191	genome.wustl.edu	37	19	57967285	57967285	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:57967285C>T	ENST00000321039.3	-	1	569	c.570G>A	c.(568-570)gtG>gtA	p.V190V	AC004076.9_ENST00000415705.3_Intron|AC004076.9_ENST00000596831.1_Intron	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	190					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)		GTGGGCCATTCACTAATAGAA	0.398																																						dbGAP											0													88.0	84.0	86.0					19																	57967285		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			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.570G>A	19.37:g.57967285C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KSV5|Q7Z5H8|Q7Z5H9	Silent	SNP	pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Vmron_rcpt_1	p.V190	ENST00000321039.3	37	c.570	CCDS12951.1	19																																																																																			VN1R1	-	pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000178201		0.398	VN1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VN1R1	HGNC	protein_coding	OTTHUMT00000466464.1	116	0.00	0	C	NM_020633		57967285	57967285	-1	no_errors	ENST00000321039	ensembl	human	known	69_37n	silent	62	43.64	48	SNP	0.000	T
VPRBP	9730	genome.wustl.edu	37	3	51450817	51450817	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:51450817C>T	ENST00000335891.5	-	13	2617	c.2608G>A	c.(2608-2610)Gat>Aat	p.D870N				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	1319	LisH. {ECO:0000255|PROSITE- ProRule:PRU00126}.				B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		ATTAAGTCATCTTCATCATCT	0.438																																						dbGAP											0													71.0	67.0	68.0					3																	51450817		1916	4141	6057	-	-	-	SO:0001583	missense	0			AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"""DDB1 and CUL4 associated factors"""	30911	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 1"""					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.2608G>A	3.37:g.51450817C>T	ENSP00000338857:p.Asp870Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_LisH_dimerisation	p.D870N	ENST00000335891.5	37	c.2608		3	.	.	.	.	.	.	.	.	.	.	C	34	5.366534	0.95900	.	.	ENSG00000145041	ENST00000423656;ENST00000335891	T;T	0.56611	0.46;0.45	5.57	5.57	0.84162	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.65144	0.2663	L	0.40543	1.245	0.80722	D	1	D	0.76494	0.999	D	0.72075	0.976	T	0.58601	-0.7608	10	0.27082	T	0.32	-18.9478	19.5392	0.95267	0.0:1.0:0.0:0.0	.	1319	Q9Y4B6	VPRBP_HUMAN	N	890;870	ENSP00000393183:D890N;ENSP00000338857:D870N	ENSP00000338857:D870N	D	-	1	0	VPRBP	51425857	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.480000	0.81109	2.632000	0.89209	0.643000	0.83706	GAT	VPRBP	-	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold	ENSG00000145041		0.438	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	VPRBP	HGNC	protein_coding		97	0.00	0	C	NM_014703		51450817	51450817	-1	no_errors	ENST00000335891	ensembl	human	known	69_37n	missense	102	14.29	17	SNP	1.000	T
VPRBP	9730	genome.wustl.edu	37	3	51475566	51475566	+	Intron	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:51475566G>C	ENST00000335891.5	-	6	682							Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein						B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		CAGAAGATGAGAAACCCAACT	0.423																																						dbGAP											0													206.0	192.0	197.0					3																	51475566		1915	4116	6031	-	-	-	SO:0001627	intron_variant	0			AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"""DDB1 and CUL4 associated factors"""	30911	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 1"""					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.672+188C>G	3.37:g.51475566G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.F287L	ENST00000335891.5	37	c.861		3	.	.	.	.	.	.	.	.	.	.	G	13.37	2.217257	0.39201	.	.	ENSG00000145041	ENST00000504652	T	0.40756	1.02	5.87	3.15	0.36227	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.46698	0.1406	L	0.40543	1.245	0.80722	D	1	P	0.52577	0.954	D	0.66351	0.943	T	0.33163	-0.9879	10	0.10111	T	0.7	-14.9718	9.8855	0.41260	0.2094:0.0:0.7906:0.0	.	287	Q9Y4B6	VPRBP_HUMAN	L	287	ENSP00000421724:F287L	ENSP00000421724:F287L	F	-	3	2	VPRBP	51450606	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	3.933000	0.56545	0.501000	0.28013	0.655000	0.94253	TTC	VPRBP	-	NULL	ENSG00000145041		0.423	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	VPRBP	HGNC	protein_coding		195	0.00	0	G	NM_014703		51475566	51475566	-1	no_stop_codon	ENST00000504652	ensembl	human	known	69_37n	missense	201	15.55	37	SNP	1.000	C
VPS11	55823	genome.wustl.edu	37	11	118940045	118940045	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:118940045C>G	ENST00000300793.6	+	3	366	c.324C>G	c.(322-324)atC>atG	p.I108M	RP11-110I1.13_ENST00000607709.1_RNA|VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	109					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		AAGAGGGCATCAACCCCTTGG	0.473																																						dbGAP											0													66.0	62.0	63.0					11																	118940045		1895	4131	6026	-	-	-	SO:0001583	missense	0			AB027508	CCDS73404.1	11q23	2008-02-05	2006-12-19			ENSG00000160695		"""RING-type (C3HC4) zinc fingers"""	14583	protein-coding gene	gene with protein product		608549	"""vacuolar protein sorting 11 (yeast homolog)"""				Standard	NM_021729		Approved	RNF108, PEP5	uc010ryx.2	Q9H270		ENST00000300793.6:c.324C>G	11.37:g.118940045C>G	ENSP00000475301:p.Ile108Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WY89|Q96EP8|Q9H6D9|Q9HCS6	RNA	SNP	-	NULL	ENST00000300793.6	37	NULL		11																																																																																			VPS11	-	-	ENSG00000160695		0.473	VPS11-201	KNOWN	basic|appris_principal	protein_coding	VPS11	HGNC	protein_coding		30	0.00	0	C	NM_021729		118940045	118940045	+1	no_errors	ENST00000300793	ensembl	human	known	69_37n	rna	40	29.82	17	SNP	1.000	G
VPS11	55823	genome.wustl.edu	37	11	118942376	118942376	+	Nonsense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:118942376C>G	ENST00000300793.6	+	6	746	c.704C>G	c.(703-705)tCa>tGa	p.S235*	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	236					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		CTGCGCTGCTCAGCCCTAAGT	0.547																																						dbGAP											0													115.0	115.0	115.0					11																	118942376		2069	4199	6268	-	-	-	SO:0001587	stop_gained	0			AB027508	CCDS73404.1	11q23	2008-02-05	2006-12-19			ENSG00000160695		"""RING-type (C3HC4) zinc fingers"""	14583	protein-coding gene	gene with protein product		608549	"""vacuolar protein sorting 11 (yeast homolog)"""				Standard	NM_021729		Approved	RNF108, PEP5	uc010ryx.2	Q9H270		ENST00000300793.6:c.704C>G	11.37:g.118942376C>G	ENSP00000475301:p.Ser235*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WY89|Q96EP8|Q9H6D9|Q9HCS6	RNA	SNP	-	NULL	ENST00000300793.6	37	NULL		11																																																																																			VPS11	-	-	ENSG00000160695		0.547	VPS11-201	KNOWN	basic|appris_principal	protein_coding	VPS11	HGNC	protein_coding		104	0.93	1	C	NM_021729		118942376	118942376	+1	no_errors	ENST00000300793	ensembl	human	known	69_37n	rna	74	29.52	31	SNP	1.000	G
VPS13A	23230	genome.wustl.edu	37	9	79841411	79841411	+	Missense_Mutation	SNP	A	A	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:79841411A>C	ENST00000360280.3	+	15	1514	c.1254A>C	c.(1252-1254)aaA>aaC	p.K418N	VPS13A_ENST00000357409.5_Missense_Mutation_p.K418N|VPS13A_ENST00000376634.4_Missense_Mutation_p.K418N|VPS13A_ENST00000376636.3_Missense_Mutation_p.K418N	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	418					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AAATTTACAAAGAAGGAGTAA	0.323																																						dbGAP											0													84.0	89.0	87.0					9																	79841411		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.1254A>C	9.37:g.79841411A>C	ENSP00000353422:p.Lys418Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	pfam_VPSAP,pfam_Autophagy-rel_C	p.K418N	ENST00000360280.3	37	c.1254	CCDS6655.1	9	.	.	.	.	.	.	.	.	.	.	A	14.09	2.431461	0.43122	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.51574	0.86;0.7;0.77;0.86	5.33	4.19	0.49359	.	0.319686	0.31624	N	0.007334	T	0.45094	0.1325	M	0.64997	1.995	0.80722	D	1	B;B;P;P	0.45176	0.003;0.381;0.852;0.694	B;B;B;B	0.43916	0.012;0.149;0.436;0.436	T	0.30650	-0.9971	10	0.26408	T	0.33	.	8.4105	0.32640	0.7801:0.0:0.2199:0.0	.	418;418;418;418	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	N	418	ENSP00000365821:K418N;ENSP00000365823:K418N;ENSP00000353422:K418N;ENSP00000349985:K418N	ENSP00000349985:K418N	K	+	3	2	VPS13A	79031231	1.000000	0.71417	0.953000	0.39169	0.861000	0.49209	1.876000	0.39588	0.978000	0.38470	0.482000	0.46254	AAA	VPS13A	-	NULL	ENSG00000197969		0.323	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13A	HGNC	protein_coding	OTTHUMT00000052753.2	109	0.00	0	A	NM_015186		79841411	79841411	+1	no_errors	ENST00000360280	ensembl	human	known	69_37n	missense	67	23.86	21	SNP	0.805	C
VPS13A	23230	genome.wustl.edu	37	9	79843067	79843067	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:79843067G>C	ENST00000360280.3	+	17	1742	c.1482G>C	c.(1480-1482)ttG>ttC	p.L494F	VPS13A_ENST00000357409.5_Missense_Mutation_p.L494F|VPS13A_ENST00000376634.4_Missense_Mutation_p.L494F|VPS13A_ENST00000376636.3_Missense_Mutation_p.L494F	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	494					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TTGTCCACTTGAAAAGTATGT	0.284																																						dbGAP											0													37.0	37.0	37.0					9																	79843067		2200	4288	6488	-	-	-	SO:0001583	missense	0			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.1482G>C	9.37:g.79843067G>C	ENSP00000353422:p.Leu494Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	pfam_VPSAP,pfam_Autophagy-rel_C	p.L494F	ENST00000360280.3	37	c.1482	CCDS6655.1	9	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829540	0.71258	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.59502	0.41;0.26;0.31;0.4	5.63	5.63	0.86233	.	0.074581	0.53938	D	0.000046	T	0.76097	0.3940	M	0.86178	2.8	0.80722	D	1	D;D;D;D	0.76494	0.999;0.998;0.999;0.999	D;D;D;D	0.74674	0.984;0.951;0.984;0.984	T	0.78142	-0.2319	10	0.56958	D	0.05	.	11.115	0.48256	0.1122:0.0:0.8878:0.0	.	494;494;494;494	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	F	494	ENSP00000365821:L494F;ENSP00000365823:L494F;ENSP00000353422:L494F;ENSP00000349985:L494F	ENSP00000349985:L494F	L	+	3	2	VPS13A	79032887	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.116000	0.50399	2.814000	0.96858	0.563000	0.77884	TTG	VPS13A	-	NULL	ENSG00000197969		0.284	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13A	HGNC	protein_coding	OTTHUMT00000052753.2	107	0.00	0	G	NM_015186		79843067	79843067	+1	no_errors	ENST00000360280	ensembl	human	known	69_37n	missense	63	31.52	29	SNP	1.000	C
VPS13A	23230	genome.wustl.edu	37	9	79852968	79852968	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:79852968C>T	ENST00000360280.3	+	18	1906	c.1646C>T	c.(1645-1647)tCa>tTa	p.S549L	VPS13A_ENST00000357409.5_Missense_Mutation_p.S549L|VPS13A_ENST00000376634.4_Missense_Mutation_p.S549L|VPS13A_ENST00000376636.3_Missense_Mutation_p.S549L	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	549					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CCAGATAATTCAGAAAAACCC	0.328																																						dbGAP											0													64.0	69.0	67.0					9																	79852968		2203	4298	6501	-	-	-	SO:0001583	missense	0			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.1646C>T	9.37:g.79852968C>T	ENSP00000353422:p.Ser549Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	pfam_VPSAP,pfam_Autophagy-rel_C	p.S549L	ENST00000360280.3	37	c.1646	CCDS6655.1	9	.	.	.	.	.	.	.	.	.	.	C	11.35	1.613269	0.28712	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.21	-4.12	0.03916	.	1.146860	0.06525	N	0.740383	T	0.34978	0.0916	L	0.56769	1.78	0.09310	N	1	B;B;B;B	0.06786	0.0;0.0;0.001;0.001	B;B;B;B	0.06405	0.002;0.001;0.002;0.002	T	0.42666	-0.9438	10	0.48119	T	0.1	.	6.61	0.22747	0.1111:0.4269:0.0:0.4621	.	549;549;549;549	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	L	549	ENSP00000365821:S549L;ENSP00000365823:S549L;ENSP00000353422:S549L;ENSP00000349985:S549L	ENSP00000349985:S549L	S	+	2	0	VPS13A	79042788	0.000000	0.05858	0.003000	0.11579	0.943000	0.58893	-0.036000	0.12185	-0.469000	0.06911	0.585000	0.79938	TCA	VPS13A	-	NULL	ENSG00000197969		0.328	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13A	HGNC	protein_coding	OTTHUMT00000052753.2	59	0.00	0	C	NM_015186		79852968	79852968	+1	no_errors	ENST00000360280	ensembl	human	known	69_37n	missense	66	18.52	15	SNP	0.000	T
VPS13B	157680	genome.wustl.edu	37	8	100568847	100568847	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:100568847C>G	ENST00000358544.2	+	31	5101	c.4990C>G	c.(4990-4992)Caa>Gaa	p.Q1664E	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.Q1639E	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1664					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AAGGAATTCTCAAAATCCAGC	0.423																																					Colon(161;2205 2542 7338 31318)	dbGAP											0													72.0	69.0	70.0					8																	100568847		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.4990C>G	8.37:g.100568847C>G	ENSP00000351346:p.Gln1664Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.Q1664E	ENST00000358544.2	37	c.4990	CCDS6280.1	8	.	.	.	.	.	.	.	.	.	.	C	20.2	3.953881	0.73902	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.66995	-0.24;-0.21	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.75384	0.3842	L	0.41079	1.255	0.80722	D	1	D;D	0.61697	0.99;0.982	D;D	0.72982	0.979;0.952	T	0.70142	-0.4953	10	0.23302	T	0.38	.	19.2061	0.93730	0.0:1.0:0.0:0.0	.	1639;1664	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	E	1639;1664	ENSP00000349685:Q1639E;ENSP00000351346:Q1664E	ENSP00000349685:Q1639E	Q	+	1	0	VPS13B	100638023	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.858000	0.69532	2.536000	0.85505	0.650000	0.86243	CAA	VPS13B	-	NULL	ENSG00000132549		0.423	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	HGNC	protein_coding	OTTHUMT00000277138.1	45	0.00	0	C	NM_184042		100568847	100568847	+1	no_errors	ENST00000358544	ensembl	human	known	69_37n	missense	41	21.15	11	SNP	1.000	G
VPS13B	157680	genome.wustl.edu	37	8	100790966	100790966	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:100790966G>C	ENST00000358544.2	+	42	7672	c.7561G>C	c.(7561-7563)Gaa>Caa	p.E2521Q	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.E2496Q	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2521					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ATCTGAACTAGAATACATGAT	0.418																																					Colon(161;2205 2542 7338 31318)	dbGAP											0													111.0	109.0	110.0					8																	100790966		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.7561G>C	8.37:g.100790966G>C	ENSP00000351346:p.Glu2521Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.E2521Q	ENST00000358544.2	37	c.7561	CCDS6280.1	8	.	.	.	.	.	.	.	.	.	.	G	22.4	4.291548	0.80914	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.71698	-0.59;-0.59	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.83403	0.5247	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	D	0.83770	0.0219	10	0.62326	D	0.03	.	19.7273	0.96170	0.0:0.0:1.0:0.0	.	2496;2521	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	Q	2496;2521	ENSP00000349685:E2496Q;ENSP00000351346:E2521Q	ENSP00000349685:E2496Q	E	+	1	0	VPS13B	100860142	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.160000	0.94734	2.653000	0.90120	0.650000	0.86243	GAA	VPS13B	-	NULL	ENSG00000132549		0.418	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	HGNC	protein_coding	OTTHUMT00000277138.1	64	0.00	0	G	NM_184042		100790966	100790966	+1	no_errors	ENST00000358544	ensembl	human	known	69_37n	missense	60	20.00	15	SNP	1.000	C
VPS13C	54832	genome.wustl.edu	37	15	62212521	62212521	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:62212521C>G	ENST00000261517.5	-	57	7295	c.7222G>C	c.(7222-7224)Gag>Cag	p.E2408Q	VPS13C_ENST00000395898.3_Missense_Mutation_p.E2365Q|VPS13C_ENST00000249837.3_Missense_Mutation_p.E2365Q|VPS13C_ENST00000395896.4_Missense_Mutation_p.E2408Q	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						GCAGTGCCCTCTGAAAAACCC	0.348																																						dbGAP											0													49.0	52.0	51.0					15																	62212521		2202	4299	6501	-	-	-	SO:0001583	missense	0			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.7222G>C	15.37:g.62212521C>G	ENSP00000261517:p.Glu2408Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_VPSAP,pfam_Autophagy-rel_C	p.E2408Q	ENST00000261517.5	37	c.7222	CCDS32257.1	15	.	.	.	.	.	.	.	.	.	.	C	19.75	3.884865	0.72410	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.52754	0.65;0.65;0.65	5.74	3.87	0.44632	.	0.100948	0.64402	D	0.000003	T	0.65647	0.2711	M	0.83012	2.62	0.58432	D	0.999994	P;D;P;D	0.57257	0.92;0.979;0.92;0.964	P;P;P;P	0.61003	0.621;0.882;0.621;0.766	T	0.67496	-0.5656	10	0.49607	T	0.09	.	11.593	0.50957	0.0:0.8078:0.1251:0.0671	.	2365;2408;2365;2408	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	Q	2365;2408;2408;2408	ENSP00000249837:E2365Q;ENSP00000261517:E2408Q;ENSP00000379233:E2408Q	ENSP00000249837:E2365Q	E	-	1	0	VPS13C	59999813	0.994000	0.37717	0.980000	0.43619	0.992000	0.81027	3.114000	0.50383	0.770000	0.33336	0.650000	0.86243	GAG	VPS13C	-	NULL	ENSG00000129003		0.348	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13C	HGNC	protein_coding	OTTHUMT00000415997.1	59	0.00	0	C	NM_017684		62212521	62212521	-1	no_errors	ENST00000261517	ensembl	human	known	69_37n	missense	36	34.55	19	SNP	1.000	G
VPS13C	54832	genome.wustl.edu	37	15	62276051	62276051	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:62276051G>A	ENST00000261517.5	-	20	1955	c.1882C>T	c.(1882-1884)Cag>Tag	p.Q628*	VPS13C_ENST00000395898.3_Nonsense_Mutation_p.Q585*|VPS13C_ENST00000249837.3_Nonsense_Mutation_p.Q585*|VPS13C_ENST00000395896.4_Nonsense_Mutation_p.Q628*	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						GGCTGGGACTGAACAATCAGA	0.388																																						dbGAP											0													74.0	68.0	70.0					15																	62276051		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			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.1882C>T	15.37:g.62276051G>A	ENSP00000261517:p.Gln628*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_VPSAP,pfam_Autophagy-rel_C	p.Q628*	ENST00000261517.5	37	c.1882	CCDS32257.1	15	.	.	.	.	.	.	.	.	.	.	G	19.57	3.851712	0.71719	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	.	.	.	5.9	4.01	0.46588	.	0.557657	0.18542	N	0.138175	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	17.2728	0.87107	0.0:0.5498:0.4502:0.0	.	.	.	.	X	585;628;628;628	.	ENSP00000249837:Q585X	Q	-	1	0	VPS13C	60063343	0.986000	0.35501	0.856000	0.33681	0.107000	0.19398	1.183000	0.32041	0.808000	0.34231	-0.171000	0.13296	CAG	VPS13C	-	NULL	ENSG00000129003		0.388	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13C	HGNC	protein_coding	OTTHUMT00000415997.1	50	0.00	0	G	NM_017684		62276051	62276051	-1	no_errors	ENST00000261517	ensembl	human	known	69_37n	nonsense	50	20.63	13	SNP	0.916	A
VPS13C	54832	genome.wustl.edu	37	15	62299590	62299590	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:62299590G>A	ENST00000261517.5	-	15	1280	c.1207C>T	c.(1207-1209)Cag>Tag	p.Q403*	VPS13C_ENST00000395898.3_Nonsense_Mutation_p.Q360*|VPS13C_ENST00000249837.3_Nonsense_Mutation_p.Q360*|VPS13C_ENST00000395896.4_Nonsense_Mutation_p.Q403*	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						TTGAGTAACTGCCTGTGCTTT	0.318																																						dbGAP											0													216.0	197.0	204.0					15																	62299590		2203	4297	6500	-	-	-	SO:0001587	stop_gained	0			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.1207C>T	15.37:g.62299590G>A	ENSP00000261517:p.Gln403*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_VPSAP,pfam_Autophagy-rel_C	p.Q403*	ENST00000261517.5	37	c.1207	CCDS32257.1	15	.	.	.	.	.	.	.	.	.	.	G	37	6.355753	0.97502	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	.	.	.	5.28	4.34	0.51931	.	0.187796	0.36665	N	0.002467	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.7156	0.77667	0.0:0.1372:0.8627:0.0	.	.	.	.	X	360;403;403;403	.	ENSP00000249837:Q360X	Q	-	1	0	VPS13C	60086882	1.000000	0.71417	0.997000	0.53966	0.929000	0.56500	4.127000	0.57944	1.162000	0.42619	0.655000	0.94253	CAG	VPS13C	-	NULL	ENSG00000129003		0.318	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13C	HGNC	protein_coding	OTTHUMT00000415997.1	312	0.00	0	G	NM_017684		62299590	62299590	-1	no_errors	ENST00000261517	ensembl	human	known	69_37n	nonsense	192	21.63	53	SNP	1.000	A
VPS13D	55187	genome.wustl.edu	37	1	12414078	12414078	+	Nonsense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:12414078C>G	ENST00000358136.3	+	47	9609	c.9479C>G	c.(9478-9480)tCa>tGa	p.S3160*	VPS13D_ENST00000356315.4_Nonsense_Mutation_p.S3135*	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TATATGCCCTCAAACATATTT	0.358																																						dbGAP											0													88.0	82.0	84.0					1																	12414078		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.9479C>G	1.37:g.12414078C>G	ENSP00000350854:p.Ser3160*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_VPSAP,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.S3160*	ENST00000358136.3	37	c.9479	CCDS30588.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	52|52	18.695058|18.695058	0.99909|0.99909	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000011700|ENST00000356315;ENST00000358136	.|.	.|.	.|.	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	.|0.058828	.|0.64402	.|D	.|0.000002	T|.	0.67776|.	0.2929|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.56968|.	-0.7891|.	4|.	.|0.15952	.|T	.|0.53	.|.	20.5632|20.5632	0.99335|0.99335	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	E|X	1982|3135;3160	.|.	.|ENSP00000348666:S3135X	Q|S	+|+	1|2	0|0	VPS13D|VPS13D	12336665|12336665	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.445000|7.445000	0.80570|0.80570	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	CAA|TCA	VPS13D	-	NULL	ENSG00000048707		0.358	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	HGNC	protein_coding	OTTHUMT00000036897.2	136	0.00	0	C	NM_015378		12414078	12414078	+1	no_errors	ENST00000358136	ensembl	human	known	69_37n	nonsense	85	23.42	26	SNP	1.000	G
VPS13D	55187	genome.wustl.edu	37	1	12416568	12416568	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:12416568G>C	ENST00000358136.3	+	49	10115	c.9985G>C	c.(9985-9987)Gag>Cag	p.E3329Q	VPS13D_ENST00000356315.4_Missense_Mutation_p.E3304Q	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TGCTGACAAAGAGCAGCCAAA	0.468																																						dbGAP											0													69.0	69.0	69.0					1																	12416568		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.9985G>C	1.37:g.12416568G>C	ENSP00000350854:p.Glu3329Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_VPSAP,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.E3329Q	ENST00000358136.3	37	c.9985	CCDS30588.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.2|27.2	4.812819|4.812819	0.90707|0.90707	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000356315;ENST00000358136|ENST00000011700	T;T|T	0.32515|0.30448	1.45;1.45|1.53	5.93|5.93	5.93|5.93	0.95920|0.95920	Vacuolar protein sorting-associated protein (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.53449|0.53449	0.1797|0.1797	M|M	0.76574|0.76574	2.34|2.34	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.79784|.	0.982;0.993|.	T|T	0.33599|0.33599	-0.9862|-0.9862	10|7	0.25751|0.26408	T|T	0.34|0.33	.|.	20.3409|20.3409	0.98764|0.98764	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3304;3328|.	Q5THJ4-2;Q5THJ4|.	.;VP13D_HUMAN|.	Q|N	3304;3329|2150	ENSP00000348666:E3304Q;ENSP00000350854:E3329Q|ENSP00000011700:K2150N	ENSP00000348666:E3304Q|ENSP00000011700:K2150N	E|K	+|+	1|3	0|2	VPS13D|VPS13D	12339155|12339155	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.363000|9.363000	0.97131|0.97131	2.814000|2.814000	0.96858|0.96858	0.655000|0.655000	0.94253|0.94253	GAG|AAG	VPS13D	-	pfam_VPSAP	ENSG00000048707		0.468	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	HGNC	protein_coding	OTTHUMT00000036897.2	56	0.00	0	G	NM_015378		12416568	12416568	+1	no_errors	ENST00000358136	ensembl	human	known	69_37n	missense	38	11.63	5	SNP	1.000	C
VPS16	64601	genome.wustl.edu	37	20	2841666	2841666	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:2841666C>G	ENST00000380445.3	+	7	753	c.681C>G	c.(679-681)gtC>gtG	p.V227V	VPS16_ENST00000380469.3_Silent_p.V227V|VPS16_ENST00000380443.3_5'Flank|VPS16_ENST00000481812.2_3'UTR	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	227					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						AGATGGCTGTCTCCTTCACCT	0.572																																						dbGAP											0													124.0	113.0	117.0					20																	2841666		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			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.681C>G	20.37:g.2841666C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Silent	SNP	pfam_Vps16_N,pfam_Vps16_C,pirsf_VPS16	p.V227	ENST00000380445.3	37	c.681	CCDS13036.1	20																																																																																			VPS16	-	pfam_Vps16_N,pirsf_VPS16	ENSG00000215305		0.572	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS16	HGNC	protein_coding	OTTHUMT00000077658.2	54	0.00	0	C	NM_022575		2841666	2841666	+1	no_errors	ENST00000380445	ensembl	human	known	69_37n	silent	99	13.16	15	SNP	0.997	G
VPS16	64601	genome.wustl.edu	37	20	2843950	2843950	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:2843950G>A	ENST00000380445.3	+	15	1454	c.1382G>A	c.(1381-1383)aGa>aAa	p.R461K	VPS16_ENST00000380469.3_Missense_Mutation_p.R317K|VPS16_ENST00000380443.3_Missense_Mutation_p.R147K|PTPRA_ENST00000380393.3_5'Flank|VPS16_ENST00000481812.2_3'UTR	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	461					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						GTGTTGCGGAGACTTTACCCC	0.597																																						dbGAP											0													102.0	90.0	94.0					20																	2843950		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.1382G>A	20.37:g.2843950G>A	ENSP00000369810:p.Arg461Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Missense_Mutation	SNP	pfam_Vps16_N,pfam_Vps16_C,pirsf_VPS16	p.R461K	ENST00000380445.3	37	c.1382	CCDS13036.1	20	.	.	.	.	.	.	.	.	.	.	G	12.90	2.077213	0.36662	.	.	ENSG00000215305	ENST00000380445;ENST00000380469;ENST00000453689;ENST00000380443	T;T;T	0.42900	0.96;0.98;0.99	4.67	4.67	0.58626	.	0.104805	0.64402	D	0.000005	T	0.31702	0.0805	L	0.31294	0.92	0.39604	D	0.969788	B;B;B	0.33637	0.261;0.42;0.11	B;B;B	0.30782	0.028;0.12;0.02	T	0.21211	-1.0252	10	0.40728	T	0.16	-20.0894	15.1055	0.72319	0.0:0.0:1.0:0.0	.	147;317;461	Q5JUA8;Q9H269-2;Q9H269	.;.;VPS16_HUMAN	K	461;317;199;147	ENSP00000369810:R461K;ENSP00000369836:R317K;ENSP00000369808:R147K	ENSP00000369808:R147K	R	+	2	0	VPS16	2791950	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.306000	0.65756	2.426000	0.82243	0.561000	0.74099	AGA	VPS16	-	pirsf_VPS16	ENSG00000215305		0.597	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS16	HGNC	protein_coding	OTTHUMT00000077658.2	57	0.00	0	G	NM_022575		2843950	2843950	+1	no_errors	ENST00000380445	ensembl	human	known	69_37n	missense	98	10.91	12	SNP	1.000	A
VPS33A	65082	genome.wustl.edu	37	12	122748164	122748164	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:122748164C>T	ENST00000267199.4	-	3	363	c.251G>A	c.(250-252)aGa>aAa	p.R84K	VPS33A_ENST00000542310.1_5'UTR|RP11-512M8.5_ENST00000535844.1_Missense_Mutation_p.R84K|VPS33A_ENST00000451053.2_Missense_Mutation_p.R84K	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	84					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of developmental pigmentation (GO:0048070)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		TAGCCTGGGTCTGACAAAAAA	0.378																																						dbGAP											0													92.0	88.0	89.0					12																	122748164		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK026048	CCDS9231.1	12q24.31	2008-06-23	2006-04-04		ENSG00000139719	ENSG00000139719			18179	protein-coding gene	gene with protein product		610034	"""vacuolar protein sorting 33A (yeast)"""			11250079	Standard	NM_022916		Approved		uc001ucd.3	Q96AX1	OTTHUMG00000168920	ENST00000267199.4:c.251G>A	12.37:g.122748164C>T	ENSP00000267199:p.Arg84Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q547V4|Q9H5Q0	Missense_Mutation	SNP	pfam_Sec1-like,superfamily_Sec1-like	p.R84K	ENST00000267199.4	37	c.251	CCDS9231.1	12	.	.	.	.	.	.	.	.	.	.	C	28.5	4.921571	0.92249	.	.	ENSG00000139719	ENST00000267199;ENST00000451053	T;T	0.78924	-1.22;-1.22	5.05	4.15	0.48705	.	0.000000	0.85682	D	0.000000	D	0.88422	0.6432	M	0.84156	2.68	0.54753	D	0.999987	D;D	0.89917	1.0;0.999	D;D	0.79108	0.992;0.988	D	0.90303	0.4331	10	0.72032	D	0.01	-25.2832	15.7162	0.77670	0.0:0.8627:0.1373:0.0	.	84;84	F5H6Y0;Q96AX1	.;VP33A_HUMAN	K	84	ENSP00000267199:R84K;ENSP00000442951:R84K	ENSP00000446319:R84K	R	-	2	0	VPS33A	121314117	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.308000	0.78929	1.246000	0.43901	0.561000	0.74099	AGA	VPS33A	-	pfam_Sec1-like,superfamily_Sec1-like	ENSG00000139719		0.378	VPS33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS33A	HGNC	protein_coding	OTTHUMT00000401607.2	116	0.00	0	C			122748164	122748164	-1	no_errors	ENST00000267199	ensembl	human	known	69_37n	missense	146	11.52	19	SNP	1.000	T
VPS39	23339	genome.wustl.edu	37	15	42476796	42476796	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:42476796C>T	ENST00000348544.4	-	9	669	c.670G>A	c.(670-672)Gat>Aat	p.D224N	VPS39_ENST00000318006.5_Missense_Mutation_p.D213N			Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	224	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	small GTPase regulator activity (GO:0005083)			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		ACGGTGAGATCATCCTGGCCC	0.532																																						dbGAP											0													235.0	211.0	219.0					15																	42476796		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF280814	CCDS10083.1, CCDS73710.1	15q14	2008-02-05	2006-12-19		ENSG00000166887	ENSG00000166887			20593	protein-coding gene	gene with protein product		612188	"""vacuolar protein sorting 39 (yeast)"""			11448994	Standard	XM_005254259		Approved	KIAA0770, VAM6	uc001zpc.3	Q96JC1	OTTHUMG00000130467	ENST00000348544.4:c.670G>A	15.37:g.42476796C>T	ENSP00000335193:p.Asp224Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O94869|Q71SQ6|Q7Z3V3|Q96B93|Q96RM0	Missense_Mutation	SNP	pfam_Citron,pfam_VPS39/TGF_beta_rcpt-assoc_2,pfam_VPS39/TGF_beta_rcpt-assoc_1,pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,smart_Citron	p.D224N	ENST00000348544.4	37	c.670	CCDS10083.1	15	.	.	.	.	.	.	.	.	.	.	C	26.3	4.723761	0.89298	.	.	ENSG00000166887	ENST00000318006;ENST00000348544	T;T	0.04360	3.64;3.64	5.67	5.67	0.87782	Citron-like (2);	0.000000	0.85682	D	0.000000	T	0.04952	0.0133	L	0.29908	0.895	0.80722	D	1	B;B	0.27951	0.195;0.162	B;B	0.25987	0.065;0.039	T	0.34354	-0.9832	10	0.06757	T	0.87	-17.2301	19.7728	0.96373	0.0:1.0:0.0:0.0	.	224;213	Q96JC1;Q96JC1-2	VPS39_HUMAN;.	N	213;224	ENSP00000326534:D213N;ENSP00000335193:D224N	ENSP00000326534:D213N	D	-	1	0	VPS39	40264088	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.687000	0.91594	0.655000	0.94253	GAT	VPS39	-	pfam_Citron,smart_Citron	ENSG00000166887		0.532	VPS39-002	KNOWN	basic|CCDS	protein_coding	VPS39	HGNC	protein_coding	OTTHUMT00000420472.1	103	0.00	0	C	NM_015289		42476796	42476796	-1	no_errors	ENST00000348544	ensembl	human	known	69_37n	missense	81	24.30	26	SNP	1.000	T
VPS45	11311	genome.wustl.edu	37	1	150039996	150039996	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:150039996G>A	ENST00000369130.3	+	1	628	c.82G>A	c.(82-84)Gat>Aat	p.D28N	VPS45_ENST00000535106.1_Missense_Mutation_p.D28N|VPS45_ENST00000369128.5_Intron	NM_001279354.1|NM_007259.3	NP_001266283.1|NP_009190.2	Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45 homolog (S. cerevisiae)	28					blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|vesicle docking involved in exocytosis (GO:0006904)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACTTCTCATGGATAAAGAGAC	0.438																																						dbGAP											0													131.0	133.0	132.0					1																	150039996		2203	4300	6503	-	-	-	SO:0001583	missense	0			U35246	CCDS944.1, CCDS60244.1, CCDS72904.1	1q21.2	2008-02-05	2006-12-19	2006-12-19	ENSG00000136631	ENSG00000136631			14579	protein-coding gene	gene with protein product		610035	"""vacuolar protein sorting 45A (yeast homolog)"", ""vacuolar protein sorting 45A (yeast)"""	VPS45B, VPS45A		8996080	Standard	NM_007259		Approved	h-vps45, H1	uc001etp.3	Q9NRW7	OTTHUMG00000012511	ENST00000369130.3:c.82G>A	1.37:g.150039996G>A	ENSP00000358126:p.Asp28Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DUZ9|F5H8K1|Q15715|Q53FR8|Q5T4P6|Q9Y4Z6	Missense_Mutation	SNP	pfam_Sec1-like,superfamily_Sec1-like	p.D28N	ENST00000369130.3	37	c.82	CCDS944.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.806293	0.96967	.	.	ENSG00000136631	ENST00000369130;ENST00000535106;ENST00000419023	D;D;D	0.90788	-2.73;-2.73;-2.73	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.96935	0.8999	H	0.95043	3.615	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	D	0.97418	1.0007	10	0.87932	D	0	.	18.945	0.92618	0.0:0.0:1.0:0.0	.	28;28	Q53FR8;Q9NRW7	.;VPS45_HUMAN	N	28	ENSP00000358126:D28N;ENSP00000440690:D28N;ENSP00000400143:D28N	ENSP00000358126:D28N	D	+	1	0	VPS45	148306620	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.106000	0.94253	2.821000	0.97095	0.650000	0.86243	GAT	VPS45	-	pfam_Sec1-like,superfamily_Sec1-like	ENSG00000136631		0.438	VPS45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS45	HGNC	protein_coding	OTTHUMT00000034964.1	100	0.99	1	G	NM_007259		150039996	150039996	+1	no_errors	ENST00000369130	ensembl	human	known	69_37n	missense	122	19.21	29	SNP	1.000	A
VPS45	11311	genome.wustl.edu	37	1	150064414	150064414	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:150064414G>C	ENST00000369130.3	+	12	1828	c.1282G>C	c.(1282-1284)Gaa>Caa	p.E428Q	VPS45_ENST00000535106.1_Missense_Mutation_p.E359Q|VPS45_ENST00000369128.5_Missense_Mutation_p.E323Q	NM_001279354.1|NM_007259.3	NP_001266283.1|NP_009190.2	Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45 homolog (S. cerevisiae)	428					blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|vesicle docking involved in exocytosis (GO:0006904)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGCAGTTGTTGAATATGGTGG	0.393																																						dbGAP											0													88.0	84.0	86.0					1																	150064414		2203	4300	6503	-	-	-	SO:0001583	missense	0			U35246	CCDS944.1, CCDS60244.1, CCDS72904.1	1q21.2	2008-02-05	2006-12-19	2006-12-19	ENSG00000136631	ENSG00000136631			14579	protein-coding gene	gene with protein product		610035	"""vacuolar protein sorting 45A (yeast homolog)"", ""vacuolar protein sorting 45A (yeast)"""	VPS45B, VPS45A		8996080	Standard	NM_007259		Approved	h-vps45, H1	uc001etp.3	Q9NRW7	OTTHUMG00000012511	ENST00000369130.3:c.1282G>C	1.37:g.150064414G>C	ENSP00000358126:p.Glu428Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DUZ9|F5H8K1|Q15715|Q53FR8|Q5T4P6|Q9Y4Z6	Missense_Mutation	SNP	pfam_Sec1-like,superfamily_Sec1-like	p.E428Q	ENST00000369130.3	37	c.1282	CCDS944.1	1	.	.	.	.	.	.	.	.	.	.	G	14.28	2.488302	0.44249	.	.	ENSG00000136631	ENST00000369130;ENST00000369128;ENST00000543996;ENST00000535106	T;T;T	0.76578	1.58;-1.03;1.58	4.34	4.34	0.51931	.	0.053426	0.64402	D	0.000001	T	0.59335	0.2186	L	0.33624	1.015	0.80722	D	1	B;B;B;B	0.18166	0.01;0.016;0.026;0.005	B;B;B;B	0.26517	0.07;0.06;0.017;0.038	T	0.59010	-0.7534	10	0.35671	T	0.21	.	16.3613	0.83269	0.0:0.0:1.0:0.0	.	323;428;248;428	F5H8K1;Q53FR8;A0AR27;Q9NRW7	.;.;.;VPS45_HUMAN	Q	428;323;303;359	ENSP00000358126:E428Q;ENSP00000358124:E323Q;ENSP00000440690:E359Q	ENSP00000358124:E323Q	E	+	1	0	VPS45	148331038	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.474000	0.97718	2.413000	0.81919	0.460000	0.39030	GAA	VPS45	-	pfam_Sec1-like,superfamily_Sec1-like	ENSG00000136631		0.393	VPS45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS45	HGNC	protein_coding	OTTHUMT00000034964.1	139	0.00	0	G	NM_007259		150064414	150064414	+1	no_errors	ENST00000369130	ensembl	human	known	69_37n	missense	80	42.03	58	SNP	1.000	C
VRK2	7444	genome.wustl.edu	37	2	58313488	58313488	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:58313488G>A	ENST00000435505.2	+	8	1016	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K	VRK2_ENST00000412104.2_Missense_Mutation_p.E91K|VRK2_ENST00000440705.2_Missense_Mutation_p.E68K|VRK2_ENST00000340157.4_Missense_Mutation_p.E91K|VRK2_ENST00000417641.2_Missense_Mutation_p.E91K			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	91	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to oxidative stress (GO:0034599)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interleukin-1-mediated signaling pathway (GO:2000659)|regulation of MAPK cascade (GO:0043408)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						AAAGTGGATAGAACGCAAACA	0.279																																						dbGAP											0													104.0	117.0	112.0					2																	58313488		2203	4294	6497	-	-	-	SO:0001583	missense	0			AK058199	CCDS1859.1, CCDS46291.1, CCDS46292.1	2p16.1	2008-05-15			ENSG00000028116	ENSG00000028116			12719	protein-coding gene	gene with protein product		602169					Standard	NM_001130480		Approved		uc002rzv.3	Q86Y07	OTTHUMG00000129348	ENST00000435505.2:c.271G>A	2.37:g.58313488G>A	ENSP00000408002:p.Glu91Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DKL0|D6W5D4|D6W5D6|Q49AK9|Q53EU9|Q53S39|Q53S77|Q53TU1|Q86Y08|Q86Y09|Q86Y10|Q86Y11|Q86Y12|Q8IXI5|Q99987	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.E91K	ENST00000435505.2	37	c.271	CCDS1859.1	2	.	.	.	.	.	.	.	.	.	.	G	2.081	-0.410806	0.04799	.	.	ENSG00000028116	ENST00000435505;ENST00000417641;ENST00000423109;ENST00000412104;ENST00000340157;ENST00000394539;ENST00000440705	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94	5.27	-1.13	0.09775	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	1.258460	0.04959	N	0.461660	T	0.09905	0.0243	N	0.00272	-1.73	0.19575	N	0.999964	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.27536	-1.0071	10	0.06236	T	0.91	-0.0061	5.4222	0.16405	0.2987:0.247:0.4544:0.0	.	91;91;91	Q86Y07-2;Q86Y07-5;Q86Y07	.;.;VRK2_HUMAN	K	91;91;95;91;91;91;68	ENSP00000408002:E91K;ENSP00000402375:E91K;ENSP00000404156:E91K;ENSP00000342381:E91K;ENSP00000398323:E68K	ENSP00000342381:E91K	E	+	1	0	VRK2	58166992	0.327000	0.24678	0.172000	0.22920	0.963000	0.63663	0.528000	0.23002	-0.473000	0.06871	0.585000	0.79938	GAA	VRK2	-	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	ENSG00000028116		0.279	VRK2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VRK2	HGNC	protein_coding	OTTHUMT00000325304.2	86	0.00	0	G	NM_006296		58313488	58313488	+1	no_errors	ENST00000340157	ensembl	human	known	69_37n	missense	92	11.54	12	SNP	0.057	A
VTN	7448	genome.wustl.edu	37	17	26695900	26695900	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:26695900G>C	ENST00000226218.4	-	5	1437	c.819C>G	c.(817-819)ttC>ttG	p.F273L	CTB-96E2.2_ENST00000555059.2_5'Flank|VTN_ENST00000536498.1_5'UTR|CTB-96E2.3_ENST00000591482.1_RNA|SARM1_ENST00000457710.3_5'Flank|TMEM199_ENST00000509083.1_Intron|SARM1_ENST00000379061.4_Intron|VTN_ENST00000438614.1_5'Flank	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin	273					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endopeptidase activity (GO:0010951)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein binding (GO:0032092)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of wound healing (GO:0090303)|regulation of complement activation (GO:0030449)|smooth muscle cell-matrix adhesion (GO:0061302)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|blood microparticle (GO:0072562)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Abciximab(DB00054)	TACCCTTGAAGAAGTAGACCC	0.592																																						dbGAP											0													70.0	62.0	64.0					17																	26695900		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC005046	CCDS11229.1	17q11.2	2014-08-08	2006-02-10		ENSG00000109072	ENSG00000109072		"""Endogenous ligands"""	12724	protein-coding gene	gene with protein product	"""serum spreading factor"", ""somatomedin B"", ""complement S-protein"""	193190	"""vitronectin (serum spreading factor, somatomedin B, complement S-protein)"""			2447940	Standard	NM_000638		Approved	VN	uc002hbc.3	P04004	OTTHUMG00000132500	ENST00000226218.4:c.819C>G	17.37:g.26695900G>C	ENSP00000226218:p.Phe273Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7G0|P01141|Q9BSH7	Missense_Mutation	SNP	pfam_Hemopexin/matrixin_repeat,pfam_Somatomedin_B_dom,superfamily_Hemopexin/matrixin,smart_Somatomedin_B_dom,smart_Hemopexin/matrixin_repeat,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.F273L	ENST00000226218.4	37	c.819	CCDS11229.1	17	.	.	.	.	.	.	.	.	.	.	G	24.9	4.586758	0.86851	.	.	ENSG00000255604	ENST00000226218	T	0.06142	3.34	5.92	3.96	0.45880	Hemopexin/matrixin (2);	0.000000	0.85682	D	0.000000	T	0.21590	0.0520	M	0.69823	2.125	0.80722	D	1	D	0.54397	0.966	D	0.67103	0.949	T	0.00277	-1.1854	10	0.62326	D	0.03	-33.0259	12.5516	0.56229	0.1336:0.0:0.8664:0.0	.	273	P04004	VTNC_HUMAN	L	273	ENSP00000226218:F273L	ENSP00000226218:F273L	F	-	3	2	AC002094.1	23720027	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.538000	0.53597	0.860000	0.35481	0.655000	0.94253	TTC	VTN	-	pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat	ENSG00000255604		0.592	VTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VTN	HGNC	protein_coding	OTTHUMT00000255680.2	29	0.00	0	G	NM_000638		26695900	26695900	-1	no_errors	ENST00000226218	ensembl	human	known	69_37n	missense	44	15.38	8	SNP	1.000	C
VWA3A	146177	genome.wustl.edu	37	16	22111530	22111531	+	Missense_Mutation	DNP	GA	GA	AT			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G|A	G|A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:22111530_22111531GA>AT	ENST00000389398.5	+	4	337_338	c.241_242GA>AT	c.(241-243)GAg>ATg	p.E81M	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	81						extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		GCAGGGGAGTGAGACCCAGTCT	0.525																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		Exception_encountered	16.37:g.22111530_22111531delinsAT	ENSP00000374049:p.Glu81Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Missense_Mutation	SNP	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.E81K|p.E81V	ENST00000389398.5	37	c.241|c.242	CCDS45441.1	16																																																																																			VWA3A	-	NULL	ENSG00000175267		0.525	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA3A	HGNC	protein_coding	OTTHUMT00000430052.1	64|63	0.00	0	G|A			22111530|22111531	22111530|22111531	+1	no_errors	ENST00000389398	ensembl	human	known	69_37n	missense	47|49	17.54|16.95	10	SNP	0.023|0.096	A|T
VWA8	23078	genome.wustl.edu	37	13	42461472	42461472	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr13:42461472G>C	ENST00000379310.3	-	6	745	c.677C>G	c.(676-678)tCt>tGt	p.S226C	VWA8_ENST00000281496.6_Missense_Mutation_p.S226C	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	226						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										AATTTTCCAAGAATCCAACTC	0.428																																						dbGAP											0													65.0	68.0	67.0					13																	42461472		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.677C>G	13.37:g.42461472G>C	ENSP00000368612:p.Ser226Cys	Somatic		WXS	Illumina GAIIx	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.S226C	ENST00000379310.3	37	c.677	CCDS41881.1	13	.	.	.	.	.	.	.	.	.	.	G	17.54	3.415365	0.62511	.	.	ENSG00000102763	ENST00000251030;ENST00000379310;ENST00000281496;ENST00000398857	T;T	0.12774	2.86;2.65	5.11	4.25	0.50352	ATPase, dynein-related, AAA domain (1);	0.462954	0.21826	N	0.068557	T	0.24275	0.0588	L	0.38175	1.15	0.25298	N	0.989301	B	0.33120	0.398	P	0.49637	0.617	T	0.20571	-1.0271	10	0.56958	D	0.05	.	15.8609	0.79019	0.0:0.136:0.864:0.0	.	226	A3KMH1	K0564_HUMAN	C	130;226;226;226	ENSP00000368612:S226C;ENSP00000281496:S226C	ENSP00000251030:S130C	S	-	2	0	KIAA0564	41359472	1.000000	0.71417	0.988000	0.46212	0.843000	0.47879	4.412000	0.59787	1.261000	0.44149	0.650000	0.86243	TCT	VWA8	-	pfam_ATPase_dyneun-rel_AAA	ENSG00000102763		0.428	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA8	HGNC	protein_coding	OTTHUMT00000354828.2	71	0.00	0	G	NM_015058		42461472	42461472	-1	no_errors	ENST00000379310	ensembl	human	known	69_37n	missense	32	37.25	19	SNP	0.991	C
VWCE	220001	genome.wustl.edu	37	11	61026670	61026670	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:61026670G>C	ENST00000335613.5	-	20	2731	c.2345C>G	c.(2344-2346)tCc>tGc	p.S782C	VWCE_ENST00000535710.1_Missense_Mutation_p.S247C	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	782						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						CCCAGGACAGGAGCTACAGTT	0.552																																						dbGAP											0													38.0	41.0	40.0					11																	61026670		2203	4299	6502	-	-	-	SO:0001583	missense	0			AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992			26487	protein-coding gene	gene with protein product		611115				12869306	Standard	NM_152718		Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.2345C>G	11.37:g.61026670G>C	ENSP00000334186:p.Ser782Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKV0|Q7Z7L6|Q86WK8	Missense_Mutation	SNP	pfam_VWF_C,pfam_EGF-like_Ca-bd,smart_EGF-like,smart_EGF-like_Ca-bd,smart_VWF_C,smart_VWC_out,pfscan_EG-like_dom,pfscan_VWF_C	p.S782C	ENST00000335613.5	37	c.2345	CCDS8002.1	11	.	.	.	.	.	.	.	.	.	.	G	15.68	2.905703	0.52333	.	.	ENSG00000167992	ENST00000335613;ENST00000535710	T;T	0.71341	-0.56;3.28	4.73	2.71	0.32032	.	0.632712	0.13226	N	0.403993	T	0.61438	0.2347	L	0.54323	1.7	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.54912	-0.8222	10	0.66056	D	0.02	.	5.3764	0.16168	0.1099:0.2089:0.6812:0.0	.	782	Q96DN2	VWCE_HUMAN	C	782;247	ENSP00000334186:S782C;ENSP00000442570:S247C	ENSP00000334186:S782C	S	-	2	0	VWCE	60783246	0.757000	0.28394	0.488000	0.27440	0.020000	0.10135	1.890000	0.39728	2.326000	0.78906	0.655000	0.94253	TCC	VWCE	-	NULL	ENSG00000167992		0.552	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWCE	HGNC	protein_coding	OTTHUMT00000398811.1	40	0.00	0	G	NM_152718		61026670	61026670	-1	no_errors	ENST00000335613	ensembl	human	known	69_37n	missense	44	25.42	15	SNP	0.081	C
WAPAL	23063	genome.wustl.edu	37	10	88213498	88213498	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:88213498C>G	ENST00000298767.5	-	13	3220	c.2748G>C	c.(2746-2748)caG>caC	p.Q916H	WAPAL_ENST00000263070.7_Missense_Mutation_p.Q183H|WAPAL_ENST00000372075.1_Missense_Mutation_p.Q183H	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	916	WAPL. {ECO:0000255|PROSITE- ProRule:PRU00603}.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA replication (GO:0008156)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of fibroblast proliferation (GO:0048146)|protein localization to chromatin (GO:0071168)|regulation of chromosome condensation (GO:0060623)|regulation of cohesin localization to chromatin (GO:0071922)|response to toxic substance (GO:0009636)|viral process (GO:0016032)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)				breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						TAGTTACATTCTGGTGAGGCA	0.433																																						dbGAP											0													124.0	102.0	109.0					10																	88213498		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB065003	CCDS7375.1	10q23.31	2006-12-08	2006-03-16	2006-03-16	ENSG00000062650	ENSG00000062650			23293	protein-coding gene	gene with protein product	"""friend of EBNA2"""	610754	"""KIAA0261"""	KIAA0261		9039502, 17112726	Standard	XM_006717726		Approved	FOE, WAPL	uc001kdo.3	Q7Z5K2	OTTHUMG00000018651	ENST00000298767.5:c.2748G>C	10.37:g.88213498C>G	ENSP00000298767:p.Gln916His	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2B5|Q5VSK5|Q8IX10|Q92549	Missense_Mutation	SNP	pfam_WAPL_prot,superfamily_ARM-type_fold	p.Q1001H	ENST00000298767.5	37	c.3003	CCDS7375.1	10	.	.	.	.	.	.	.	.	.	.	C	10.37	1.330847	0.24167	.	.	ENSG00000062650	ENST00000342368;ENST00000298767;ENST00000372076;ENST00000372075;ENST00000263070	T	0.46063	0.88	5.82	4.92	0.64577	Armadillo-type fold (1);	0.108794	0.64402	D	0.000004	T	0.23249	0.0562	N	0.08118	0	0.40740	D	0.982822	B;B;B;B	0.15473	0.005;0.013;0.005;0.01	B;B;B;B	0.19148	0.007;0.024;0.007;0.006	T	0.06588	-1.0818	10	0.39692	T	0.17	.	9.7327	0.40370	0.1396:0.7902:0.0:0.0702	.	910;954;916;953	B2RTX8;E9PH12;Q7Z5K2;Q7Z5K2-2	.;.;WAPL_HUMAN;.	H	1001;916;1001;183;183	ENSP00000298767:Q916H	ENSP00000263070:Q183H	Q	-	3	2	WAPAL	88203478	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.967000	0.40491	1.483000	0.48342	0.591000	0.81541	CAG	WAPAL	-	pfam_WAPL_prot,superfamily_ARM-type_fold	ENSG00000062650		0.433	WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WAPAL	HGNC	protein_coding	OTTHUMT00000049151.2	85	0.00	0	C	NM_015045		88213498	88213498	-1	no_errors	ENST00000342368	ensembl	human	known	69_37n	missense	49	33.78	25	SNP	1.000	G
WASF3	10810	genome.wustl.edu	37	13	27216435	27216435	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr13:27216435delC	ENST00000335327.5	+	3	206	c.28delC	c.(28-30)cccfs	p.P10fs	WASF3-AS1_ENST00000585599.1_RNA|WASF3_ENST00000496788.1_3'UTR|WASF3_ENST00000361042.4_Frame_Shift_Del_p.P10fs|WASF3-AS1_ENST00000586418.1_RNA|WASF3-AS1_ENST00000413063.1_RNA	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	10					actin filament polymerization (GO:0030041)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|oligodendrocyte development (GO:0014003)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		GAACATTGAGCCCCGGCACTT	0.428																																						dbGAP											0													80.0	82.0	81.0					13																	27216435		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB020707	CCDS9318.1	13q12	2008-06-23			ENSG00000132970	ENSG00000132970			12734	protein-coding gene	gene with protein product		605068				10381382	Standard	NM_006646		Approved	WAVE3, SCAR3, KIAA0900	uc001uqv.3	Q9UPY6	OTTHUMG00000016621	ENST00000335327.5:c.28delC	13.37:g.27216435delC	ENSP00000335055:p.Pro10fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O94974|Q86VQ2	Frame_Shift_Del	DEL	pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.R11fs	ENST00000335327.5	37	c.28	CCDS9318.1	13																																																																																			WASF3	-	NULL	ENSG00000132970		0.428	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WASF3	HGNC	protein_coding	OTTHUMT00000044258.1	51	0.00	0	C			27216435	27216435	+1	no_errors	ENST00000335327	ensembl	human	known	69_37n	frame_shift_del	32	43.86	25	DEL	1.000	-
WASF3	10810	genome.wustl.edu	37	13	27241737	27241737	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr13:27241737C>G	ENST00000335327.5	+	5	530	c.352C>G	c.(352-354)Cct>Gct	p.P118A	WASF3_ENST00000496788.1_3'UTR|WASF3_ENST00000361042.4_Missense_Mutation_p.P118A	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	118					actin filament polymerization (GO:0030041)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|oligodendrocyte development (GO:0014003)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		GAACAGCATTCCTAATCCTGT	0.428																																						dbGAP											0													97.0	92.0	94.0					13																	27241737		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020707	CCDS9318.1	13q12	2008-06-23			ENSG00000132970	ENSG00000132970			12734	protein-coding gene	gene with protein product		605068				10381382	Standard	NM_006646		Approved	WAVE3, SCAR3, KIAA0900	uc001uqv.3	Q9UPY6	OTTHUMG00000016621	ENST00000335327.5:c.352C>G	13.37:g.27241737C>G	ENSP00000335055:p.Pro118Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	O94974|Q86VQ2	Missense_Mutation	SNP	pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.P118A	ENST00000335327.5	37	c.352	CCDS9318.1	13	.	.	.	.	.	.	.	.	.	.	C	26.1	4.704805	0.88924	.	.	ENSG00000132970	ENST00000361042;ENST00000335327	T;T	0.55234	0.53;0.53	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.77280	0.4107	M	0.89904	3.07	0.80722	D	1	D;D	0.89917	0.994;1.0	P;D	0.64410	0.86;0.925	T	0.83190	-0.0084	10	0.87932	D	0	-19.7581	18.4771	0.90797	0.0:1.0:0.0:0.0	.	118;118	Q86VQ2;Q9UPY6	.;WASF3_HUMAN	A	118	ENSP00000354325:P118A;ENSP00000335055:P118A	ENSP00000335055:P118A	P	+	1	0	WASF3	26139737	1.000000	0.71417	0.610000	0.28997	0.970000	0.65996	7.400000	0.79949	2.356000	0.79943	0.655000	0.94253	CCT	WASF3	-	NULL	ENSG00000132970		0.428	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WASF3	HGNC	protein_coding	OTTHUMT00000044258.1	62	0.00	0	C			27241737	27241737	+1	no_errors	ENST00000335327	ensembl	human	known	69_37n	missense	30	42.31	22	SNP	1.000	G
WBP2	23558	genome.wustl.edu	37	17	73844682	73844682	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:73844682G>A	ENST00000591399.1	-	5	790	c.366C>T	c.(364-366)ttC>ttT	p.F122F	WBP2_ENST00000585462.1_Silent_p.F100F|WBP2_ENST00000344296.4_Silent_p.F100F|WBP2_ENST00000433525.2_Silent_p.F122F|WBP2_ENST00000590450.1_5'Flank|WBP2_ENST00000254806.3_Silent_p.F122F|WBP2_ENST00000590221.1_Silent_p.F122F			Q969T9	WBP2_HUMAN	WW domain binding protein 2	122					cellular response to estrogen stimulus (GO:0071391)|establishment of protein localization (GO:0045184)|positive regulation of gene expression, epigenetic (GO:0045815)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nuclear chromatin (GO:0000790)	chromatin DNA binding (GO:0031490)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription coactivator activity (GO:0001105)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7			all cancers(21;2.61e-06)|Epithelial(20;2.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCCGCTGTCCGAACTCAATGG	0.512											OREG0024743	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													56.0	49.0	51.0					17																	73844682		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U79458	CCDS11731.1	17q25	2008-02-01				ENSG00000132471			12738	protein-coding gene	gene with protein product		606962				7644498	Standard	NM_012478		Approved	WBP-2	uc002jps.3	Q969T9		ENST00000591399.1:c.366C>T	17.37:g.73844682G>A		Somatic	1148	WXS	Illumina GAIIx	Phase_IV	O95638	Missense_Mutation	SNP	pfam_WW-domain-binding	p.S21L	ENST00000591399.1	37	c.62	CCDS11731.1	17																																																																																			WBP2	-	pfam_WW-domain-binding	ENSG00000132471		0.512	WBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBP2	HGNC	protein_coding	OTTHUMT00000448862.1	61	0.00	0	G	NM_012478		73844682	73844682	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000586257	ensembl	human	putative	69_37n	missense	65	19.75	16	SNP	0.966	A
WBSCR22	114049	genome.wustl.edu	37	7	73101226	73101226	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:73101226G>C	ENST00000265758.2	+	4	319	c.261G>C	c.(259-261)atG>atC	p.M87I	WBSCR22_ENST00000423166.2_Missense_Mutation_p.M110I|WBSCR22_ENST00000423497.1_Missense_Mutation_p.M87I	NM_017528.4	NP_059998.2	O43709	WBS22_HUMAN	Williams Beuren syndrome chromosome region 22	87					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|large_intestine(2)|lung(9)|prostate(1)	13		Lung NSC(55;0.0908)|all_lung(88;0.198)				GCCCTGCCATGCTGGGTAAGT	0.517																																						dbGAP											0													108.0	107.0	108.0					7																	73101226		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF420248	CCDS5557.1, CCDS56490.1	7q11.23	2012-06-12			ENSG00000071462	ENSG00000071462			16405	protein-coding gene	gene with protein product	"""metastasis-related methyltransferase 1"""	615733				12073013, 11978965, 21148752	Standard	NM_001202560		Approved	MGC19709, MGC2022, MGC5140, PP3381, WBMT, MERM1	uc003tyt.3	O43709	OTTHUMG00000023306	ENST00000265758.2:c.261G>C	7.37:g.73101226G>C	ENSP00000265758:p.Met87Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K501|C9K060|Q96P12|Q9BQ58|Q9HBP9	Missense_Mutation	SNP	pfam_Unchr_MeTrfase_Williams-Beuren,pfam_Methyltransf_11	p.M87I	ENST00000265758.2	37	c.261	CCDS5557.1	7	.	.	.	.	.	.	.	.	.	.	G	25.6	4.651488	0.88056	.	.	ENSG00000071462	ENST00000265758;ENST00000423166;ENST00000423497	T;T;T	0.73897	-0.79;-0.79;-0.79	4.77	4.77	0.60923	Methyltransferase type 11 (1);	0.076780	0.85682	D	0.000000	D	0.88250	0.6386	H	0.94734	3.575	0.80722	D	1	D;P	0.63046	0.992;0.868	P;P	0.59643	0.861;0.85	D	0.91577	0.5276	10	0.87932	D	0	-29.4556	15.3183	0.74099	0.0:0.0:1.0:0.0	.	87;87	C9K060;O43709	.;WBS22_HUMAN	I	87;110;87	ENSP00000265758:M87I;ENSP00000397056:M110I;ENSP00000401191:M87I	ENSP00000265758:M87I	M	+	3	0	WBSCR22	72739162	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.313000	0.78978	2.473000	0.83533	0.563000	0.77884	ATG	WBSCR22	-	pfam_Methyltransf_11	ENSG00000071462		0.517	WBSCR22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBSCR22	HGNC	protein_coding	OTTHUMT00000252303.1	122	0.00	0	G			73101226	73101226	+1	no_errors	ENST00000265758	ensembl	human	known	69_37n	missense	122	21.29	33	SNP	1.000	C
WDFY3	23001	genome.wustl.edu	37	4	85638146	85638146	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:85638146C>G	ENST00000295888.4	-	49	8185	c.7778G>C	c.(7777-7779)aGa>aCa	p.R2593T	WDFY3_ENST00000322366.6_Missense_Mutation_p.R2576T	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2593	Interaction with SQSTM1.|Sufficient for translocalization to p62 bodies/ALIS.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)	p.R2593T(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CCTGGCTCCTCTAGGAATAAT	0.418																																						dbGAP											1	Substitution - Missense(1)	lung(1)											105.0	107.0	106.0					4																	85638146		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.7778G>C	4.37:g.85638146C>G	ENSP00000295888:p.Arg2593Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R2593T	ENST00000295888.4	37	c.7778	CCDS3609.1	4	.	.	.	.	.	.	.	.	.	.	C	1.724	-0.495984	0.04291	.	.	ENSG00000163625	ENST00000322366;ENST00000295888;ENST00000514711	T;T;T	0.62941	-0.0;-0.01;0.01	5.21	4.36	0.52297	PH-BEACH domain (1);	0.054242	0.64402	D	0.000002	T	0.53351	0.1791	L	0.50333	1.59	0.50039	D	0.999846	B	0.28820	0.224	B	0.24701	0.055	T	0.48725	-0.9010	10	0.17369	T	0.5	.	13.7977	0.63182	0.0:0.9254:0.0:0.0746	.	2593	Q8IZQ1	WDFY3_HUMAN	T	2576;2593;196	ENSP00000318466:R2576T;ENSP00000295888:R2593T;ENSP00000424987:R196T	ENSP00000295888:R2593T	R	-	2	0	WDFY3	85857170	1.000000	0.71417	0.920000	0.36463	0.350000	0.29205	5.675000	0.68123	1.318000	0.45170	0.650000	0.86243	AGA	WDFY3	-	NULL	ENSG00000163625		0.418	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY3	HGNC	protein_coding	OTTHUMT00000252811.2	67	0.00	0	C	NM_014991		85638146	85638146	-1	no_errors	ENST00000295888	ensembl	human	known	69_37n	missense	40	20.00	10	SNP	0.993	G
WDFY3	23001	genome.wustl.edu	37	4	85710959	85710959	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:85710959C>A	ENST00000295888.4	-	22	3996	c.3589G>T	c.(3589-3591)Gtc>Ttc	p.V1197F	WDFY3_ENST00000322366.6_Missense_Mutation_p.V1197F	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1197					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		ATTACCAGGACCAAATGATGC	0.413																																						dbGAP											0													136.0	129.0	132.0					4																	85710959		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.3589G>T	4.37:g.85710959C>A	ENSP00000295888:p.Val1197Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V1197F	ENST00000295888.4	37	c.3589	CCDS3609.1	4	.	.	.	.	.	.	.	.	.	.	C	21.4	4.149503	0.78001	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.66460	-0.21;-0.21	4.57	4.57	0.56435	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.124762	0.53938	D	0.000056	T	0.61739	0.2371	L	0.54323	1.7	0.58432	D	0.999998	P	0.40794	0.729	B	0.35899	0.213	T	0.65829	-0.6073	10	0.39692	T	0.17	.	17.7404	0.88405	0.0:1.0:0.0:0.0	.	1197	Q8IZQ1	WDFY3_HUMAN	F	1197	ENSP00000318466:V1197F;ENSP00000295888:V1197F	ENSP00000295888:V1197F	V	-	1	0	WDFY3	85929983	1.000000	0.71417	0.993000	0.49108	0.986000	0.74619	4.850000	0.62889	2.223000	0.72356	0.561000	0.74099	GTC	WDFY3	-	superfamily_ConA-like_lec_gl	ENSG00000163625		0.413	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY3	HGNC	protein_coding	OTTHUMT00000252811.2	68	0.00	0	C	NM_014991		85710959	85710959	-1	no_errors	ENST00000295888	ensembl	human	known	69_37n	missense	70	24.73	23	SNP	1.000	A
WDFY4	57705	genome.wustl.edu	37	10	50167832	50167832	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:50167832C>T	ENST00000325239.5	+	52	8224	c.8197C>T	c.(8197-8199)Cgg>Tgg	p.R2733W	WDFY4_ENST00000465910.1_3'UTR|WDFY4_ENST00000413659.2_3'UTR	NM_020945.1	NP_065996.1	Q6ZS81	WDFY4_HUMAN	WDFY family member 4	2733	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.					integral component of membrane (GO:0016021)				NS(2)|breast(5)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(3)|pancreas(2)|prostate(5)|skin(6)|stomach(1)	48						TGGGGACCCTCGGAAATTCAT	0.582																																						dbGAP											0													73.0	75.0	75.0					10																	50167832		692	1591	2283	-	-	-	SO:0001583	missense	0			AK074085	CCDS44385.1	10q11.23	2013-01-10			ENSG00000128815	ENSG00000128815		"""WD repeat domain containing"""	29323	protein-coding gene	gene with protein product		613316	"""chromosome 10 open reading frame 64"""	C10orf64		10997877	Standard	NM_020945		Approved	KIAA1607, Em:AC060234.3, FLJ45748	uc001jha.4	Q6ZS81	OTTHUMG00000018180	ENST00000325239.5:c.8197C>T	10.37:g.50167832C>T	ENSP00000320563:p.Arg2733Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B9ZVP2|Q86WZ4|Q8N4A3|Q8TEN7|Q96BE1|Q9H7H8|Q9HCG5	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R2733W	ENST00000325239.5	37	c.8197	CCDS44385.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	21.9|21.9	4.218507|4.218507	0.79464|0.79464	.|.	.|.	ENSG00000128815|ENSG00000128815	ENST00000426033;ENST00000325239;ENST00000544136|ENST00000312002	T|.	0.80824|.	-1.42|.	5.6|5.6	2.34|2.34	0.29019|0.29019	BEACH domain (4);|.	0.278422|.	0.35124|.	N|.	0.003425|.	T|T	0.61887|0.61887	0.2383|0.2383	M|M	0.64170|0.64170	1.965|1.965	0.80722|0.80722	D|D	1|1	D;D|.	0.69078|.	0.997;0.977|.	P;P|.	0.62382|.	0.901;0.606|.	T|T	0.55780|0.55780	-0.8087|-0.8087	9|5	.|.	.|.	.|.	.|.	10.1857|10.1857	0.42995|0.42995	0.198:0.5627:0.2393:0.0|0.198:0.5627:0.2393:0.0	.|.	196;2733|.	B4DWY9;Q6ZS81|.	.;WDFY4_HUMAN|.	W|L	2733;2733;196|1823	ENSP00000320563:R2733W|.	.|.	R|S	+|+	1|2	2|0	WDFY4|WDFY4	49837838|49837838	0.735000|0.735000	0.28153|0.28153	0.162000|0.162000	0.22713|0.22713	0.997000|0.997000	0.91878|0.91878	1.252000|1.252000	0.32874|0.32874	0.133000|0.133000	0.18654|0.18654	0.651000|0.651000	0.88453|0.88453	CGG|TCG	WDFY4	-	pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom	ENSG00000128815		0.582	WDFY4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY4	HGNC	protein_coding		33	0.00	0	C	XM_033379		50167832	50167832	+1	no_errors	ENST00000325239	ensembl	human	known	69_37n	missense	26	31.58	12	SNP	0.990	T
WDHD1	11169	genome.wustl.edu	37	14	55429552	55429552	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:55429552C>G	ENST00000360586.3	-	20	2616	c.2551G>C	c.(2551-2553)Gag>Cag	p.E851Q	WDHD1_ENST00000420358.2_Missense_Mutation_p.E728Q|WDHD1_ENST00000359167.4_Missense_Mutation_p.E369Q|WDHD1_ENST00000421192.1_Missense_Mutation_p.E728Q	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	851					heterochromatin maintenance (GO:0070829)|regulation of chromosome organization (GO:0033044)|RNA processing (GO:0006396)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						TGGCTCCACTCTGTAGCAGTA	0.363																																						dbGAP											0													215.0	213.0	213.0					14																	55429552		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ006266	CCDS9721.1, CCDS41955.1	14q22.2	2013-01-09			ENSG00000198554	ENSG00000198554		"""WD repeat domain containing"""	23170	protein-coding gene	gene with protein product	"""CTF4, chromosome transmission fidelity factor 4 homolog (S. cerevisiae)"""	608126				9175701, 20028748	Standard	NM_007086		Approved	AND-1, CTF4, CHTF4	uc001xbm.2	O75717	OTTHUMG00000140304	ENST00000360586.3:c.2551G>C	14.37:g.55429552C>G	ENSP00000353793:p.Glu851Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JW18|F6W0U7	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_DUF3639,pfam_TIF2A_beta_prop-like,superfamily_WD40_repeat_dom,superfamily_HMG_superfamily,smart_WD40_repeat,smart_HMG_superfamily,pfscan_HMG_superfamily,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E851Q	ENST00000360586.3	37	c.2551	CCDS9721.1	14	.	.	.	.	.	.	.	.	.	.	C	16.38	3.106887	0.56291	.	.	ENSG00000198554	ENST00000360586;ENST00000359167;ENST00000421192	T;T;T	0.63417	0.33;0.79;-0.04	5.25	5.25	0.73442	.	0.205916	0.42172	D	0.000749	T	0.70029	0.3177	M	0.71581	2.175	0.41499	D	0.988271	D;P	0.59357	0.985;0.948	P;P	0.54590	0.756;0.494	T	0.67122	-0.5750	10	0.17832	T	0.49	.	14.1051	0.65083	0.0:0.9253:0.0:0.0747	.	369;851	F8W7P7;O75717	.;WDHD1_HUMAN	Q	851;369;728	ENSP00000353793:E851Q;ENSP00000352085:E369Q;ENSP00000391049:E728Q	ENSP00000352085:E369Q	E	-	1	0	WDHD1	54499302	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	2.455000	0.44988	2.462000	0.83206	0.455000	0.32223	GAG	WDHD1	-	NULL	ENSG00000198554		0.363	WDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDHD1	HGNC	protein_coding	OTTHUMT00000276897.2	196	0.00	0	C	NM_007086		55429552	55429552	-1	no_errors	ENST00000360586	ensembl	human	known	69_37n	missense	148	29.52	62	SNP	1.000	G
WDR16	146845	genome.wustl.edu	37	17	9487654	9487654	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:9487654C>T	ENST00000299764.5	+	1	66	c.66C>T	c.(64-66)gtC>gtT	p.V22V	WDR16_ENST00000352665.5_Intron|WDR16_ENST00000396219.3_Intron|WDR16_ENST00000576499.1_Intron					WD repeat domain 16											NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						AAAGAGGTGTCACCATGAAAG	0.413																																						dbGAP											0													77.0	75.0	75.0					17																	9487654		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AB065281	CCDS11149.2, CCDS42262.1	17p13.1	2014-08-01			ENSG00000166596	ENSG00000166596		"""WD repeat domain containing"""	16053	protein-coding gene	gene with protein product	"""WD40-repeat protein upregulated in HCC"""	609804				15967112	Standard	NM_001080556		Approved	WDRPUH, FLJ37528	uc002gly.3	Q8N1V2	OTTHUMG00000150149	ENST00000299764.5:c.66C>T	17.37:g.9487654C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V22	ENST00000299764.5	37	c.66		17																																																																																			WDR16	-	NULL	ENSG00000166596		0.413	WDR16-201	KNOWN	basic	protein_coding	WDR16	HGNC	protein_coding		92	0.00	0	C	NM_145054		9487654	9487654	+1	no_errors	ENST00000299764	ensembl	human	known	69_37n	silent	38	15.56	7	SNP	0.000	T
WDR19	57728	genome.wustl.edu	37	4	39254873	39254873	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:39254873G>C	ENST00000399820.3	+	25	2991	c.2837G>C	c.(2836-2838)aGa>aCa	p.R946T	WDR19_ENST00000288634.7_Missense_Mutation_p.R786T	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	946					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)				large_intestine(1)	1						AATATTGTTAGAGAGACCCAG	0.378																																						dbGAP											0													61.0	59.0	59.0					4																	39254873		1826	4092	5918	-	-	-	SO:0001583	missense	0			AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	18340	protein-coding gene	gene with protein product	"""intraflagellar transport 144 homolog (Chlamydomonas)"""	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.2837G>C	4.37:g.39254873G>C	ENSP00000382717:p.Arg946Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.R946T	ENST00000399820.3	37	c.2837	CCDS47042.1	4	.	.	.	.	.	.	.	.	.	.	G	19.62	3.862100	0.71949	.	.	ENSG00000157796	ENST00000399820;ENST00000288634	T;T	0.76316	-1.01;-1.01	5.49	5.49	0.81192	.	0.041842	0.85682	D	0.000000	D	0.87180	0.6113	M	0.83774	2.66	0.50039	D	0.999844	D	0.65815	0.995	D	0.69142	0.962	D	0.86499	0.1802	10	0.37606	T	0.19	-24.2429	12.6948	0.56997	0.0754:0.0:0.9246:0.0	.	946	Q8NEZ3	WDR19_HUMAN	T	946;786	ENSP00000382717:R946T;ENSP00000288634:R786T	ENSP00000288634:R786T	R	+	2	0	WDR19	38931268	1.000000	0.71417	0.980000	0.43619	0.578000	0.36192	6.787000	0.75099	2.567000	0.86603	0.650000	0.86243	AGA	WDR19	-	NULL	ENSG00000157796		0.378	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR19	HGNC	protein_coding	OTTHUMT00000360689.1	41	0.00	0	G			39254873	39254873	+1	no_errors	ENST00000399820	ensembl	human	known	69_37n	missense	35	23.91	11	SNP	1.000	C
WDR24	84219	genome.wustl.edu	37	16	735944	735944	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:735944G>A	ENST00000248142.6	-	9	1887	c.1888C>T	c.(1888-1890)Ctg>Ttg	p.L630L	WDR24_ENST00000293883.4_Silent_p.L500L|JMJD8_ENST00000412368.2_5'Flank|JMJD8_ENST00000293882.4_5'Flank|JMJD8_ENST00000562824.1_5'Flank|JMJD8_ENST00000562111.1_5'Flank|JMJD8_ENST00000454700.1_5'Flank|JMJD8_ENST00000609261.1_5'Flank			Q96S15	WDR24_HUMAN	WD repeat domain 24	630										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				CTGCGGTCCAGCCGCGTCTCA	0.647																																						dbGAP											0													97.0	95.0	95.0					16																	735944		2200	4300	6500	-	-	-	SO:0001819	synonymous_variant	0			AL136863	CCDS10420.1	16p13.3	2013-01-09			ENSG00000127580	ENSG00000127580		"""WD repeat domain containing"""	20852	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 21"""	C16orf21		11230166	Standard	NM_032259		Approved	DKFZp434F054, JFP7	uc002ciz.1	Q96S15	OTTHUMG00000090421	ENST00000248142.6:c.1888C>T	16.37:g.735944G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A2IDB8|D3DU59|Q96GC7|Q9H0B7	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L630	ENST00000248142.6	37	c.1888		16																																																																																			WDR24	-	NULL	ENSG00000127580		0.647	WDR24-201	KNOWN	basic	protein_coding	WDR24	HGNC	protein_coding		29	0.00	0	G	NM_032259		735944	735944	-1	no_errors	ENST00000248142	ensembl	human	known	69_37n	silent	36	21.74	10	SNP	0.990	A
WDR33	55339	genome.wustl.edu	37	2	128471323	128471323	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:128471323C>T	ENST00000322313.4	-	18	3300	c.3142G>A	c.(3142-3144)Ggg>Agg	p.G1048R		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1048					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CCAGGGCCCCCTCGCCTCCAC	0.647																																						dbGAP											0													75.0	78.0	77.0					2																	128471323		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.3142G>A	2.37:g.128471323C>T	ENSP00000325377:p.Gly1048Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Collagen,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G1048R	ENST00000322313.4	37	c.3142	CCDS2150.1	2	.	.	.	.	.	.	.	.	.	.	C	25.0	4.593483	0.86953	.	.	ENSG00000136709	ENST00000322313	D	0.96200	-3.94	5.81	5.81	0.92471	.	0.134693	0.52532	D	0.000078	D	0.90700	0.7082	N	0.19112	0.55	0.80722	D	1	P	0.37015	0.578	B	0.26416	0.069	D	0.90821	0.4709	10	0.87932	D	0	-1.9222	20.0726	0.97729	0.0:1.0:0.0:0.0	.	1048	Q9C0J8	WDR33_HUMAN	R	1048	ENSP00000325377:G1048R	ENSP00000325377:G1048R	G	-	1	0	WDR33	128187793	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	4.064000	0.57506	2.738000	0.93877	0.655000	0.94253	GGG	WDR33	-	NULL	ENSG00000136709		0.647	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR33	HGNC	protein_coding	OTTHUMT00000331141.2	42	0.00	0	C	NM_018383		128471323	128471323	-1	no_errors	ENST00000322313	ensembl	human	known	69_37n	missense	47	17.54	10	SNP	1.000	T
WDR35	57539	genome.wustl.edu	37	2	20130254	20130254	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:20130254G>C	ENST00000345530.3	-	26	3172	c.3057C>G	c.(3055-3057)ttC>ttG	p.F1019L	WDR35_ENST00000416055.2_Missense_Mutation_p.F492L|WDR35_ENST00000281405.4_Missense_Mutation_p.F1008L	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	1019					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)				breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATTATCTGTGAAACGATCTG	0.498																																						dbGAP											0													150.0	140.0	144.0					2																	20130254		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	29250	protein-coding gene	gene with protein product		613602				10718198	Standard	NM_001006657		Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.3057C>G	2.37:g.20130254G>C	ENSP00000314444:p.Phe1019Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVI5|Q4ZG01|Q8NE11	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pirsf_WD_repeat_p35,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F1019L	ENST00000345530.3	37	c.3057	CCDS33152.1	2	.	.	.	.	.	.	.	.	.	.	G	1.504	-0.551315	0.03996	.	.	ENSG00000118965	ENST00000345530;ENST00000281405;ENST00000416055	T;T;T	0.70399	0.09;0.09;-0.48	5.52	3.73	0.42828	.	0.198879	0.52532	N	0.000077	T	0.45538	0.1347	N	0.12182	0.205	0.24198	N	0.995528	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.25328	-1.0135	10	0.06365	T	0.9	-6.5991	9.1279	0.36828	0.2492:0.0:0.7508:0.0	.	1008;1019;492	Q9P2L0-2;Q9P2L0;B3KR94	.;WDR35_HUMAN;.	L	1019;1008;492	ENSP00000314444:F1019L;ENSP00000281405:F1008L;ENSP00000399159:F492L	ENSP00000281405:F1008L	F	-	3	2	WDR35	19993735	1.000000	0.71417	0.975000	0.42487	0.532000	0.34746	1.126000	0.31344	0.708000	0.31955	-0.222000	0.12452	TTC	WDR35	-	pirsf_WD_repeat_p35	ENSG00000118965		0.498	WDR35-001	KNOWN	basic|CCDS	protein_coding	WDR35	HGNC	protein_coding	OTTHUMT00000207472.2	66	0.00	0	G	NM_020779		20130254	20130254	-1	no_errors	ENST00000345530	ensembl	human	known	69_37n	missense	52	25.71	18	SNP	0.998	C
WDR35	57539	genome.wustl.edu	37	2	20141591	20141591	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:20141591G>A	ENST00000345530.3	-	18	2003	c.1888C>T	c.(1888-1890)Cag>Tag	p.Q630*	WDR35_ENST00000416055.2_Nonsense_Mutation_p.Q195*|WDR35_ENST00000281405.4_Nonsense_Mutation_p.Q619*	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	630					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)				breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAGAGGTCTGAATGGGTTCC	0.259																																						dbGAP											0													27.0	28.0	27.0					2																	20141591		2176	4286	6462	-	-	-	SO:0001587	stop_gained	0			AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	29250	protein-coding gene	gene with protein product		613602				10718198	Standard	NM_001006657		Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.1888C>T	2.37:g.20141591G>A	ENSP00000314444:p.Gln630*	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVI5|Q4ZG01|Q8NE11	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pirsf_WD_repeat_p35,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q630*	ENST00000345530.3	37	c.1888	CCDS33152.1	2	.	.	.	.	.	.	.	.	.	.	G	39	7.474625	0.98306	.	.	ENSG00000118965	ENST00000345530;ENST00000281405;ENST00000416055;ENST00000453014	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.4822	18.2886	0.90122	0.0:0.0:1.0:0.0	.	.	.	.	X	630;619;195;165	.	ENSP00000281405:Q619X	Q	-	1	0	WDR35	20005072	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.445000	0.80570	2.665000	0.90641	0.655000	0.94253	CAG	WDR35	-	pirsf_WD_repeat_p35	ENSG00000118965		0.259	WDR35-001	KNOWN	basic|CCDS	protein_coding	WDR35	HGNC	protein_coding	OTTHUMT00000207472.2	56	0.00	0	G	NM_020779		20141591	20141591	-1	no_errors	ENST00000345530	ensembl	human	known	69_37n	nonsense	47	17.54	10	SNP	1.000	A
WDR33	55339	genome.wustl.edu	37	2	128477068	128477068	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:128477068G>C	ENST00000322313.4	-	16	2689	c.2531C>G	c.(2530-2532)tCa>tGa	p.S844*		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	844					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TCCCAGCATTGATCCTTGGGG	0.637																																						dbGAP											0													33.0	37.0	36.0					2																	128477068		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.2531C>G	2.37:g.128477068G>C	ENSP00000325377:p.Ser844*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Nonsense_Mutation	SNP	pfam_WD40_repeat,pfam_Collagen,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S844*	ENST00000322313.4	37	c.2531	CCDS2150.1	2	.	.	.	.	.	.	.	.	.	.	G	38	7.265329	0.98175	.	.	ENSG00000136709	ENST00000322313	.	.	.	5.12	4.23	0.50019	.	0.526834	0.19647	N	0.109307	.	.	.	.	.	.	0.36396	D	0.862809	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-8.6125	14.2554	0.66048	0.0:0.1489:0.8511:0.0	.	.	.	.	X	844	.	ENSP00000325377:S844X	S	-	2	0	WDR33	128193538	0.971000	0.33674	0.419000	0.26584	0.978000	0.69477	3.562000	0.53777	1.251000	0.43983	0.563000	0.77884	TCA	WDR33	-	NULL	ENSG00000136709		0.637	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR33	HGNC	protein_coding	OTTHUMT00000331141.2	31	0.00	0	G	NM_018383		128477068	128477068	-1	no_errors	ENST00000322313	ensembl	human	known	69_37n	nonsense	27	12.90	4	SNP	0.353	C
WDR45	11152	genome.wustl.edu	37	X	48935539	48935539	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:48935539C>G	ENST00000376372.3	-	3	268	c.87G>C	c.(85-87)gtG>gtC	p.V29V	WDR45_ENST00000322995.8_Silent_p.V29V|WDR45_ENST00000356463.3_Silent_p.V29V|WDR45_ENST00000465431.1_5'UTR|WDR45_ENST00000376368.2_Silent_p.V29V|WDR45_ENST00000485908.1_Silent_p.V29V|WDR45_ENST00000396681.4_Silent_p.V29V|WDR45_ENST00000553851.1_Silent_p.V29V|WDR45_ENST00000473974.1_Silent_p.V29V|AF196779.12_ENST00000376358.3_Silent_p.V29V	NM_001029896.1	NP_001025067.1	Q9Y484	WIPI4_HUMAN	WD repeat domain 45	29					autophagy (GO:0006914)|cell death (GO:0008219)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						TGTAGATGCGCACACCTGTCT	0.607																																						dbGAP											0													77.0	54.0	62.0					X																	48935539		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC003037	CCDS14318.1, CCDS35250.1	Xp11.23	2013-06-06	2004-09-02	2004-09-03	ENSG00000196998	ENSG00000196998		"""WD repeat domain containing"""	28912	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 5"""	300526	"""WD repeat domain, X-linked 1"""	WDRX1		12477932	Standard	NM_007075		Approved	JM5, WIPI4, NBIA5	uc004dmk.1	Q9Y484	OTTHUMG00000034500	ENST00000376372.3:c.87G>C	X.37:g.48935539C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGH5|B7WPI2|Q5MNZ5|Q6IBS7|Q6NT94|Q96H03	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.V29	ENST00000376372.3	37	c.87	CCDS35250.1	X																																																																																			WDR45	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000196998		0.607	WDR45-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR45	HGNC	protein_coding	OTTHUMT00000083418.2	94	0.00	0	C	NM_007075		48935539	48935539	-1	no_errors	ENST00000322995	ensembl	human	known	69_37n	silent	107	19.55	26	SNP	0.989	G
WDR46	9277	genome.wustl.edu	37	6	33254619	33254619	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:33254619G>C	ENST00000374617.4	-	10	1424	c.1068C>G	c.(1066-1068)ctC>ctG	p.L356L	PFDN6_ENST00000374607.1_5'Flank|PFDN6_ENST00000463584.1_5'Flank|WDR46_ENST00000477718.1_5'Flank|PFDN6_ENST00000374610.2_5'Flank|PFDN6_ENST00000374606.5_5'Flank|PFDN6_ENST00000395131.1_5'Flank	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN	WD repeat domain 46	356							poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						CACGATGACAGAGAATCTTTG	0.507																																						dbGAP											0													177.0	165.0	169.0					6																	33254619		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			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.1068C>G	6.37:g.33254619G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDP5|Q5HYZ0|Q5STK5|Q5STR3	Silent	SNP	pfam_BING4_C_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L356	ENST00000374617.4	37	c.1068	CCDS4772.1	6																																																																																			WDR46	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000227057		0.507	WDR46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR46	HGNC	protein_coding	OTTHUMT00000076382.2	91	0.00	0	G	NM_005452		33254619	33254619	-1	no_errors	ENST00000374617	ensembl	human	known	69_37n	silent	81	30.77	36	SNP	0.980	C
WDR6	11180	genome.wustl.edu	37	3	49049714	49049714	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:49049714G>A	ENST00000608424.1	+	2	786	c.747G>A	c.(745-747)caG>caA	p.Q249Q	WDR6_ENST00000415265.2_Intron|WDR6_ENST00000395474.3_Silent_p.Q279Q|WDR6_ENST00000448293.1_Silent_p.Q198Q|WDR6_ENST00000489684.1_3'UTR			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	249					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)		GTCGGGTGCAGAATATTGGGC	0.552																																						dbGAP											0													90.0	95.0	93.0					3																	49049714		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			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.747G>A	3.37:g.49049714G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DHK2|Q3MIT1|Q9UF63	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q279	ENST00000608424.1	37	c.837		3																																																																																			WDR6	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000178252		0.552	WDR6-024	NOVEL	basic|appris_principal	protein_coding	WDR6	HGNC	protein_coding	OTTHUMT00000471652.1	63	0.00	0	G			49049714	49049714	+1	no_errors	ENST00000395474	ensembl	human	known	69_37n	silent	92	16.36	18	SNP	0.997	A
WDR6	11180	genome.wustl.edu	37	3	49051823	49051823	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:49051823C>G	ENST00000608424.1	+	4	2713	c.2674C>G	c.(2674-2676)Ctt>Gtt	p.L892V	WDR6_ENST00000415265.2_Missense_Mutation_p.L340V|WDR6_ENST00000395474.3_Missense_Mutation_p.L922V|WDR6_ENST00000448293.1_Missense_Mutation_p.L841V			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	892					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)	p.L892I(1)		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)		CAGGCTCTTTCTTTTGCAGGA	0.557											OREG0015565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											1	Substitution - Missense(1)	breast(1)											69.0	77.0	74.0					3																	49051823		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.2674C>G	3.37:g.49051823C>G	ENSP00000477389:p.Leu892Val	Somatic	959	WXS	Illumina GAIIx	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.L922V	ENST00000608424.1	37	c.2764		3	.	.	.	.	.	.	.	.	.	.	C	0.053	-1.245557	0.01481	.	.	ENSG00000178252	ENST00000395474;ENST00000415265;ENST00000448293	T;T;T	0.70282	2.8;-0.47;-0.47	4.86	0.673	0.17941	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.518182	0.20927	N	0.083171	T	0.52661	0.1748	N	0.22421	0.69	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.08055	0.003;0.001;0.001	T	0.34850	-0.9812	10	0.29301	T	0.29	-2.9886	11.359	0.49632	0.0:0.4501:0.4753:0.0746	.	340;892;841	E9PBK6;Q9NNW5;E9PDU5	.;WDR6_HUMAN;.	V	922;340;841	ENSP00000378857:L922V;ENSP00000412195:L340V;ENSP00000413432:L841V	ENSP00000378857:L922V	L	+	1	0	WDR6	49026827	0.139000	0.22563	0.854000	0.33618	0.399000	0.30720	0.015000	0.13355	-0.094000	0.12374	0.455000	0.32223	CTT	WDR6	-	superfamily_WD40_repeat_dom	ENSG00000178252		0.557	WDR6-024	NOVEL	basic|appris_principal	protein_coding	WDR6	HGNC	protein_coding	OTTHUMT00000471652.1	82	0.00	0	C			49051823	49051823	+1	no_errors	ENST00000395474	ensembl	human	known	69_37n	missense	111	14.62	19	SNP	0.037	G
CFAP44	55779	genome.wustl.edu	37	3	113027091	113027091	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:113027091G>C	ENST00000393845.2	-	29	4607	c.4541C>G	c.(4540-4542)tCa>tGa	p.S1514*	WDR52_ENST00000308346.6_Nonsense_Mutation_p.S117*	NM_001164496.1	NP_001157968.1														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						TTCTTCACTTGATTCCTCACT	0.333																																						dbGAP											0													171.0	134.0	145.0					3																	113027091		692	1591	2283	-	-	-	SO:0001587	stop_gained	0																														ENST00000393845.2:c.4541C>G	3.37:g.113027091G>C	ENSP00000377428:p.Ser1514*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S1514*	ENST00000393845.2	37	c.4541	CCDS54624.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	44|44	10.532329|10.532329	0.99422|0.99422	.|.	.|.	ENSG00000206530|ENSG00000206530	ENST00000465636|ENST00000393845;ENST00000308346	.|.	.|.	.|.	5.22|5.22	4.26|4.26	0.50523|0.50523	.|.	.|1.062310	.|0.07343	.|N	.|0.881124	T|.	0.47948|.	0.1473|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.46884|.	-0.9159|.	3|.	.|0.33141	.|T	.|0.24	-8.2165|-8.2165	10.4428|10.4428	0.44474|0.44474	0.0:0.0:0.5771:0.4228|0.0:0.0:0.5771:0.4228	.|.	.|.	.|.	.|.	M|X	650|1514;117	.|.	.|ENSP00000311497:S117X	I|S	-|-	3|2	3|0	WDR52|WDR52	114509781|114509781	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	4.643000|4.643000	0.61390|0.61390	2.430000|2.430000	0.82344|0.82344	0.650000|0.650000	0.86243|0.86243	ATC|TCA	WDR52	-	superfamily_ARM-type_fold	ENSG00000206530		0.333	WDR52-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR52	HGNC	protein_coding		134	0.00	0	G			113027091	113027091	-1	no_errors	ENST00000393845	ensembl	human	known	69_37n	nonsense	120	16.08	23	SNP	1.000	C
WDR62	284403	genome.wustl.edu	37	19	36558877	36558877	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:36558877G>C	ENST00000270301.7	+	7	847	c.847G>C	c.(847-849)Gag>Cag	p.E283Q	WDR62_ENST00000401500.2_Missense_Mutation_p.E283Q|WDR62_ENST00000388999.3_Missense_Mutation_p.E283Q|WDR62_ENST00000378860.4_3'UTR			O43379	WDR62_HUMAN	WD repeat domain 62	283					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CCAGTTCAATGAGAAGAGGGT	0.577																																						dbGAP											0													94.0	72.0	79.0					19																	36558877		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"""WD repeat domain containing"""	24502	protein-coding gene	gene with protein product		613583	"""chromosome 19 open reading frame 14"", ""microcephaly, primary autosomal recessive 2"""	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.847G>C	19.37:g.36558877G>C	ENSP00000270301:p.Glu283Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q63HP9|Q659D7|Q8NBF7|Q96AD9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E283Q	ENST00000270301.7	37	c.847	CCDS33001.1	19	.	.	.	.	.	.	.	.	.	.	G	16.28	3.079544	0.55753	.	.	ENSG00000075702	ENST00000401500;ENST00000388999;ENST00000378860;ENST00000270301;ENST00000427823	T;T;T;T	0.63096	-0.02;2.77;5.02;0.76	6.01	4.98	0.66077	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.255275	0.44902	D	0.000407	T	0.71099	0.3300	L	0.50333	1.59	0.25890	N	0.983487	D;P;P	0.89917	1.0;0.753;0.763	D;B;B	0.73708	0.981;0.338;0.173	T	0.63047	-0.6724	10	0.21540	T	0.41	-17.5758	13.0867	0.59144	0.077:0.0:0.923:0.0	.	283;283;283	O43379-4;O43379;O43379-3	.;WDR62_HUMAN;.	Q	283;283;283;283;305	ENSP00000384792:E283Q;ENSP00000373651:E283Q;ENSP00000368137:E283Q;ENSP00000270301:E283Q	ENSP00000270301:E283Q	E	+	1	0	WDR62	41250717	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	3.497000	0.53295	1.573000	0.49748	-0.259000	0.10710	GAG	WDR62	-	superfamily_WD40_repeat_dom	ENSG00000075702		0.577	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	WDR62	HGNC	protein_coding	OTTHUMT00000457436.1	72	0.00	0	G	NM_015671		36558877	36558877	+1	no_errors	ENST00000401500	ensembl	human	known	69_37n	missense	63	24.10	20	SNP	1.000	C
WDR64	128025	genome.wustl.edu	37	1	241932740	241932740	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:241932740G>A	ENST00000366552.2	+	16	2293	c.2086G>A	c.(2086-2088)Gac>Aac	p.D696N	WDR64_ENST00000437684.2_Intron	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	696										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			TGTAAACCCTGACTTGCATCC	0.363																																						dbGAP											0													181.0	135.0	149.0					1																	241932740		692	1591	2283	-	-	-	SO:0001583	missense	0			AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"""WD repeat domain containing"""	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.2086G>A	1.37:g.241932740G>A	ENSP00000355510:p.Asp696Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B1ANT0|Q7Z573|Q96LY9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D696N	ENST00000366552.2	37	c.2086		1	.	.	.	.	.	.	.	.	.	.	G	9.833	1.188949	0.21954	.	.	ENSG00000162843	ENST00000366552	T	0.53857	0.6	5.62	4.67	0.58626	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.266144	0.32459	N	0.006067	T	0.44808	0.1311	L	0.56769	1.78	0.26482	N	0.975096	B	0.15930	0.015	B	0.11329	0.006	T	0.31779	-0.9931	10	0.17369	T	0.5	-6.7224	9.1521	0.36969	0.1068:0.0:0.8932:0.0	.	696	B1ANS9	WDR64_HUMAN	N	696	ENSP00000355510:D696N	ENSP00000355510:D696N	D	+	1	0	WDR64	239999363	0.847000	0.29606	0.013000	0.15412	0.265000	0.26407	2.884000	0.48562	1.295000	0.44724	0.650000	0.86243	GAC	WDR64	-	superfamily_WD40_repeat_dom	ENSG00000162843		0.363	WDR64-201	KNOWN	basic|appris_principal	protein_coding	WDR64	HGNC	protein_coding		100	0.00	0	G	NM_144625		241932740	241932740	+1	no_errors	ENST00000366552	ensembl	human	known	69_37n	missense	77	39.37	50	SNP	0.040	A
WDR74	54663	genome.wustl.edu	37	11	62601954	62601954	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:62601954C>G	ENST00000525239.1	-	8	1201	c.664G>C	c.(664-666)Gag>Cag	p.E222Q	STX5_ENST00000394690.1_5'Flank|STX5_ENST00000541317.1_5'Flank|WDR74_ENST00000311713.7_Missense_Mutation_p.E222Q|WDR74_ENST00000529106.1_Missense_Mutation_p.E222Q|WDR74_ENST00000278856.4_Missense_Mutation_p.E222Q|WDR74_ENST00000525752.1_Missense_Mutation_p.E165Q|RP11-727F15.9_ENST00000535817.1_RNA|WDR74_ENST00000540620.1_5'Flank|STX5_ENST00000377897.4_5'Flank|STX5_ENST00000294179.3_5'Flank|RP11-727F15.9_ENST00000535867.1_RNA			Q6RFH5	WDR74_HUMAN	WD repeat domain 74	222					blastocyst formation (GO:0001825)|RNA metabolic process (GO:0016070)	nucleolus (GO:0005730)|nucleus (GO:0005634)				kidney(2)|large_intestine(1)|liver(1)|lung(3)|ovary(1)	8						TAGGTGGTCTCTAGGACTGGC	0.577																																						dbGAP											0													39.0	45.0	43.0					11																	62601954		1970	4152	6122	-	-	-	SO:0001583	missense	0				CCDS44630.1	11q12.3	2013-01-09				ENSG00000133316		"""WD repeat domain containing"""	25529	protein-coding gene	gene with protein product							Standard	NM_018093		Approved	FLJ10439	uc001nvm.2	Q6RFH5		ENST00000525239.1:c.664G>C	11.37:g.62601954C>G	ENSP00000432119:p.Glu222Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8G5|Q9BRC9|Q9H6X8|Q9NVY2	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.E222Q	ENST00000525239.1	37	c.664	CCDS44630.1	11	.	.	.	.	.	.	.	.	.	.	C	22.0	4.231544	0.79688	.	.	ENSG00000133316	ENST00000311713;ENST00000529106;ENST00000525239;ENST00000278856;ENST00000525752	T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55	4.31	4.31	0.51392	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.061993	0.64402	D	0.000005	T	0.41858	0.1177	L	0.56396	1.775	0.41404	D	0.987698	P;D;D	0.55385	0.863;0.971;0.964	P;P;P	0.54372	0.556;0.649;0.75	T	0.19386	-1.0307	10	0.25106	T	0.35	-10.5545	14.3052	0.66380	0.0:1.0:0.0:0.0	.	165;222;222	E9PS41;Q6RFH5;Q6RFH5-2	.;WDR74_HUMAN;.	Q	222;222;222;222;165	ENSP00000308931:E222Q;ENSP00000435726:E222Q;ENSP00000432119:E222Q;ENSP00000278856:E222Q;ENSP00000432113:E165Q	ENSP00000278856:E222Q	E	-	1	0	WDR74	62358530	1.000000	0.71417	0.709000	0.30452	0.968000	0.65278	5.427000	0.66483	2.201000	0.70794	0.563000	0.77884	GAG	WDR74	-	superfamily_WD40_repeat_dom	ENSG00000133316		0.577	WDR74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR74	HGNC	protein_coding	OTTHUMT00000395678.1	24	0.00	0	C	NM_018093		62601954	62601954	-1	no_errors	ENST00000278856	ensembl	human	known	69_37n	missense	7	66.67	14	SNP	0.907	G
WDR76	79968	genome.wustl.edu	37	15	44158455	44158455	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:44158455G>C	ENST00000263795.6	+	13	1816	c.1746G>C	c.(1744-1746)aaG>aaC	p.K582N	WDR76_ENST00000381246.2_Missense_Mutation_p.K518N|WDR76_ENST00000478130.1_3'UTR|Y_RNA_ENST00000363521.1_RNA	NM_001167941.1|NM_024908.3	NP_001161413.1|NP_079184.2	Q9H967	WDR76_HUMAN	WD repeat domain 76	582										breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		AGACAGGAAAGAGGGTGCATT	0.498																																						dbGAP											0													203.0	161.0	175.0					15																	44158455		2198	4298	6496	-	-	-	SO:0001583	missense	0			AK023035	CCDS10106.1, CCDS53938.1	15q15.3	2013-01-09			ENSG00000092470	ENSG00000092470		"""WD repeat domain containing"""	25773	protein-coding gene	gene with protein product						12860291	Standard	NM_024908		Approved	FLJ12973	uc001zti.2	Q9H967	OTTHUMG00000060143	ENST00000263795.6:c.1746G>C	15.37:g.44158455G>C	ENSP00000263795:p.Lys582Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A0MNP5|Q05CI4	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.K582N	ENST00000263795.6	37	c.1746	CCDS10106.1	15	.	.	.	.	.	.	.	.	.	.	G	12.04	1.819991	0.32145	.	.	ENSG00000092470	ENST00000263795;ENST00000381246	T;T	0.65549	-0.16;-0.16	6.06	4.2	0.49525	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.553811	0.20627	N	0.088673	T	0.56031	0.1958	L	0.50333	1.59	0.09310	N	1	B	0.15930	0.015	B	0.18871	0.023	T	0.49835	-0.8897	10	0.44086	T	0.13	-19.7194	12.0417	0.53456	0.1384:0.0:0.8616:0.0	.	582	Q9H967	WDR76_HUMAN	N	582;518	ENSP00000263795:K582N;ENSP00000370645:K518N	ENSP00000263795:K582N	K	+	3	2	WDR76	41945747	0.000000	0.05858	0.625000	0.29200	0.689000	0.40095	-0.244000	0.08903	0.898000	0.36418	0.655000	0.94253	AAG	WDR76	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000092470		0.498	WDR76-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR76	HGNC	protein_coding	OTTHUMT00000133482.2	127	0.00	0	G	NM_024908		44158455	44158455	+1	no_errors	ENST00000263795	ensembl	human	known	69_37n	missense	104	21.21	28	SNP	0.005	C
WDR90	197335	genome.wustl.edu	37	16	709364	709364	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:709364G>A	ENST00000293879.4	+	26	3172	c.3172G>A	c.(3172-3174)Gaa>Aaa	p.E1058K	WDR90_ENST00000549091.1_Missense_Mutation_p.E1058K			Q96KV7	WDR90_HUMAN	WD repeat domain 90	1058										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CAGGCCTCCCGAAGGTGGCGA	0.692																																						dbGAP											0													14.0	19.0	17.0					16																	709364		2091	4208	6299	-	-	-	SO:0001583	missense	0			AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.3172G>A	16.37:g.709364G>A	ENSP00000293879:p.Glu1058Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_DUF667,pfam_Nucleoporin_Nup160,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E1058K	ENST00000293879.4	37	c.3172	CCDS42092.1	16	.	.	.	.	.	.	.	.	.	.	G	8.683	0.905573	0.17760	.	.	ENSG00000161996	ENST00000549091;ENST00000293879	T;T	0.27557	1.69;1.66	4.66	-4.99	0.03010	.	2.117670	0.02074	N	0.051778	T	0.14270	0.0345	N	0.11560	0.145	0.09310	N	0.999999	B;B	0.12630	0.006;0.004	B;B	0.08055	0.003;0.001	T	0.13845	-1.0494	10	0.18710	T	0.47	.	5.8133	0.18477	0.5438:0.0:0.3214:0.1348	.	1058;1058	F8VUX9;Q96KV7	.;WDR90_HUMAN	K	1058	ENSP00000448122:E1058K;ENSP00000293879:E1058K	ENSP00000293879:E1058K	E	+	1	0	WDR90	649365	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-0.855000	0.04295	-0.905000	0.03871	-0.254000	0.11334	GAA	WDR90	-	NULL	ENSG00000161996		0.692	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	WDR90	HGNC	protein_coding	OTTHUMT00000404335.1	15	0.00	0	G	NM_145294		709364	709364	+1	no_errors	ENST00000549091	ensembl	human	novel	69_37n	missense	17	45.16	14	SNP	0.000	A
WDR90	197335	genome.wustl.edu	37	16	715685	715685	+	Missense_Mutation	SNP	G	G	A	rs150784706		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:715685G>A	ENST00000293879.4	+	35	4318	c.4318G>A	c.(4318-4320)Gag>Aag	p.E1440K	WDR90_ENST00000549091.1_Missense_Mutation_p.E1442K|WDR90_ENST00000547944.1_Missense_Mutation_p.E39K|WDR90_ENST00000547543.1_3'UTR|WDR90_ENST00000315764.4_Missense_Mutation_p.E39K|RHOT2_ENST00000315082.4_5'Flank			Q96KV7	WDR90_HUMAN	WD repeat domain 90	1440										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CCAGGTGAACGAGGTGGTCTT	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		14161	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													50.0	59.0	56.0					16																	715685		2043	4182	6225	-	-	-	SO:0001583	missense	0			AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.4318G>A	16.37:g.715685G>A	ENSP00000293879:p.Glu1440Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E39K	ENST00000293879.4	37	c.115	CCDS42092.1	16	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	15.42	2.829314	0.50845	.	.	ENSG00000161996	ENST00000549091;ENST00000293879;ENST00000547944;ENST00000315764	T;T;T;T	0.59364	0.27;0.27;0.27;0.27	4.53	4.53	0.55603	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.632758	0.16404	N	0.215885	T	0.45115	0.1326	N	0.12920	0.275	0.48511	D	0.999664	D;D;D;D	0.65815	0.961;0.967;0.995;0.984	B;B;P;P	0.45099	0.305;0.373;0.469;0.453	T	0.42430	-0.9452	10	0.29301	T	0.29	.	16.2401	0.82402	0.0:0.0:1.0:0.0	.	39;39;39;1440	Q96KV7-10;Q96KV7-7;G3V201;Q96KV7	.;.;.;WDR90_HUMAN	K	1442;1440;39;39	ENSP00000448122:E1442K;ENSP00000293879:E1440K;ENSP00000449576:E39K;ENSP00000322808:E39K	ENSP00000293879:E1440K	E	+	1	0	WDR90	655686	1.000000	0.71417	0.939000	0.37840	0.022000	0.10575	7.405000	0.80007	2.086000	0.62901	0.561000	0.74099	GAG	WDR90	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000161996		0.647	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	WDR90	HGNC	protein_coding	OTTHUMT00000404335.1	29	0.00	0	G	NM_145294		715685	715685	+1	no_errors	ENST00000315764	ensembl	human	known	69_37n	missense	21	27.59	8	SNP	0.998	A
WDR93	56964	genome.wustl.edu	37	15	90248831	90248831	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:90248831C>G	ENST00000268130.7	+	4	644	c.543C>G	c.(541-543)gtC>gtG	p.V181V	WDR93_ENST00000560294.1_Silent_p.V181V|RP11-300G22.2_ENST00000557964.1_RNA	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	181					electron transport chain (GO:0022900)		oxidoreductase activity, acting on NAD(P)H (GO:0016651)			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			TTTACCTAGTCAAAGCCATCA	0.338																																						dbGAP											0													97.0	96.0	96.0					15																	90248831		2200	4299	6499	-	-	-	SO:0001819	synonymous_variant	0				CCDS32326.1, CCDS66862.1, CCDS73779.1	15q26.1	2012-11-02						"""WD repeat domain containing"""	26924	protein-coding gene	gene with protein product							Standard	NM_020212		Approved		uc002boj.3	Q6P2C0		ENST00000268130.7:c.543C>G	15.37:g.90248831C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N7Y8|Q9NP89	Silent	SNP	superfamily_WD40_repeat_dom	p.V181	ENST00000268130.7	37	c.543	CCDS32326.1	15																																																																																			WDR93	-	superfamily_WD40_repeat_dom	ENSG00000140527		0.338	WDR93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR93	HGNC	protein_coding	OTTHUMT00000416369.1	141	0.00	0	C	NM_020212		90248831	90248831	+1	no_errors	ENST00000268130	ensembl	human	known	69_37n	silent	124	22.01	35	SNP	0.964	G
WDR93	56964	genome.wustl.edu	37	15	90281388	90281388	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:90281388C>G	ENST00000268130.7	+	16	1983	c.1882C>G	c.(1882-1884)Cct>Gct	p.P628A	WDR93_ENST00000560294.1_Missense_Mutation_p.P600A|WDR93_ENST00000444934.2_Missense_Mutation_p.P345A	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	628					electron transport chain (GO:0022900)		oxidoreductase activity, acting on NAD(P)H (GO:0016651)			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			TTGTACCATTCCTCAAAGGGA	0.453																																						dbGAP											0													233.0	238.0	236.0					15																	90281388		2200	4299	6499	-	-	-	SO:0001583	missense	0				CCDS32326.1, CCDS66862.1, CCDS73779.1	15q26.1	2012-11-02						"""WD repeat domain containing"""	26924	protein-coding gene	gene with protein product							Standard	NM_020212		Approved		uc002boj.3	Q6P2C0		ENST00000268130.7:c.1882C>G	15.37:g.90281388C>G	ENSP00000268130:p.Pro628Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N7Y8|Q9NP89	Missense_Mutation	SNP	superfamily_WD40_repeat_dom	p.P628A	ENST00000268130.7	37	c.1882	CCDS32326.1	15	.	.	.	.	.	.	.	.	.	.	C	14.04	2.416850	0.42918	.	.	ENSG00000140527	ENST00000268130;ENST00000444934	T;T	0.46063	1.89;0.88	5.27	-4.26	0.03755	.	0.515107	0.17732	N	0.163865	T	0.32164	0.0820	L	0.56769	1.78	0.09310	N	1	P;P	0.45531	0.705;0.86	B;B	0.41271	0.269;0.352	T	0.26883	-1.0090	10	0.51188	T	0.08	-0.0501	7.5584	0.27837	0.0:0.2961:0.1223:0.5816	.	600;628	Q6P2C0-2;Q6P2C0	.;WDR93_HUMAN	A	628;345	ENSP00000268130:P628A;ENSP00000403871:P345A	ENSP00000268130:P628A	P	+	1	0	WDR93	88082392	0.000000	0.05858	0.000000	0.03702	0.304000	0.27724	-1.180000	0.03088	-0.682000	0.05197	0.650000	0.86243	CCT	WDR93	-	NULL	ENSG00000140527		0.453	WDR93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR93	HGNC	protein_coding	OTTHUMT00000416369.1	59	0.00	0	C	NM_020212		90281388	90281388	+1	no_errors	ENST00000268130	ensembl	human	known	69_37n	missense	59	22.37	17	SNP	0.000	G
WDTC1	23038	genome.wustl.edu	37	1	27627856	27627856	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:27627856G>A	ENST00000319394.3	+	13	1907	c.1372G>A	c.(1372-1374)Gac>Aac	p.D458N	WDTC1_ENST00000361771.3_Missense_Mutation_p.D457N	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	458					cellular chemical homeostasis (GO:0055082)|cellular response to insulin stimulus (GO:0032869)|glucose metabolic process (GO:0006006)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell size (GO:0008361)	cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		GTGCCTGGACGACTTCAAAGG	0.567											OREG0013280	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													73.0	68.0	70.0					1																	27627856		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK023778	CCDS296.1, CCDS60044.1	1p35.3	2013-01-11			ENSG00000142784	ENSG00000142784		"""DDB1 and CUL4 associated factors"", ""WD repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29175	protein-coding gene	gene with protein product	"""adipose homolog (Drosophila)"", ""DDB1 and CUL4 associated factor 9"""					12717455, 19238144	Standard	NM_015023		Approved	KIAA1037, ADP, DCAF9	uc009vst.3	Q8N5D0	OTTHUMG00000004273	ENST00000319394.3:c.1372G>A	1.37:g.27627856G>A	ENSP00000317971:p.Asp458Asn	Somatic	795	WXS	Illumina GAIIx	Phase_IV	D3DPL5|Q5SSC5|Q9NV87|Q9UPW4	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_TPR_repeat,pfscan_TPR-contain_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D458N	ENST00000319394.3	37	c.1372		1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.746485	0.49257	.	.	ENSG00000142784	ENST00000319394;ENST00000361771	T;T	0.37411	1.2;1.2	5.79	4.88	0.63580	Tetratricopeptide-like helical (1);WD40 repeat-like-containing domain (1);Tetratricopeptide repeat-containing (1);	0.043583	0.85682	D	0.000000	T	0.18882	0.0453	N	0.05383	-0.06	0.80722	D	1	B;B	0.21309	0.054;0.017	B;B	0.14023	0.01;0.006	T	0.08472	-1.0720	10	0.18276	T	0.48	.	13.3766	0.60743	0.0751:0.0:0.9249:0.0	.	458;457	Q8N5D0;Q8N5D0-4	WDTC1_HUMAN;.	N	458;457	ENSP00000317971:D458N;ENSP00000355317:D457N	ENSP00000317971:D458N	D	+	1	0	WDTC1	27500443	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.651000	0.83577	2.736000	0.93811	0.655000	0.94253	GAC	WDTC1	-	superfamily_WD40_repeat_dom,smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000142784		0.567	WDTC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	WDTC1	HGNC	protein_coding		34	0.00	0	G	NM_015023		27627856	27627856	+1	no_errors	ENST00000319394	ensembl	human	known	69_37n	missense	36	22.92	11	SNP	1.000	A
WEE1	7465	genome.wustl.edu	37	11	9598794	9598794	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:9598794G>C	ENST00000450114.2	+	5	1378	c.1125G>C	c.(1123-1125)caG>caC	p.Q375H	WEE1_ENST00000299613.6_Missense_Mutation_p.Q161H|snoU13_ENST00000458785.1_RNA	NM_003390.3	NP_003381.1	P30291	WEE1_HUMAN	WEE1 G2 checkpoint kinase	375	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|establishment of cell polarity (GO:0030010)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neuron projection morphogenesis (GO:0048812)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		TGCTTATACAGAATGAATATT	0.363																																						dbGAP											0													155.0	151.0	153.0					11																	9598794		2201	4294	6495	-	-	-	SO:0001583	missense	0			X62048	CCDS7800.1, CCDS44536.1	11p15.4	2013-10-21	2013-10-21		ENSG00000166483	ENSG00000166483			12761	protein-coding gene	gene with protein product		193525	"""wee1+ (S. pombe) homolog"", ""WEE1 homolog (S. pombe)"""			1840647	Standard	NM_003390		Approved		uc001mhs.3	P30291	OTTHUMG00000165863	ENST00000450114.2:c.1125G>C	11.37:g.9598794G>C	ENSP00000402084:p.Gln375His	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVE1|D3DQV0	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,pirsf_Wee1-like_protein_kinase,pfscan_Prot_kinase_cat_dom	p.Q375H	ENST00000450114.2	37	c.1125	CCDS7800.1	11	.	.	.	.	.	.	.	.	.	.	G	22.7	4.321353	0.81580	.	.	ENSG00000166483	ENST00000450114;ENST00000299613	T;T	0.39229	1.09;1.09	5.4	3.49	0.39957	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.73791	0.3632	H	0.97131	3.945	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.80167	-0.1495	10	0.87932	D	0	-7.5628	11.4782	0.50310	0.1511:0.0:0.8489:0.0	.	183;375	Q6MZL0;P30291	.;WEE1_HUMAN	H	375;161	ENSP00000402084:Q375H;ENSP00000299613:Q161H	ENSP00000299613:Q161H	Q	+	3	2	WEE1	9555370	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.266000	0.51569	0.722000	0.32252	0.655000	0.94253	CAG	WEE1	-	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,pirsf_Wee1-like_protein_kinase,pfscan_Prot_kinase_cat_dom	ENSG00000166483		0.363	WEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WEE1	HGNC	protein_coding	OTTHUMT00000386757.1	91	0.00	0	G	NM_003390		9598794	9598794	+1	no_errors	ENST00000450114	ensembl	human	known	69_37n	missense	62	39.81	41	SNP	1.000	C
WHSC1L1	54904	genome.wustl.edu	37	8	38173007	38173007	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:38173007G>A	ENST00000317025.8	-	11	2559	c.2042C>T	c.(2041-2043)tCt>tTt	p.S681F	WHSC1L1_ENST00000527502.1_Missense_Mutation_p.S681F|WHSC1L1_ENST00000525081.1_5'Flank|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.S681F	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	681					histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			CTGCACATCAGAAACGTCTGC	0.413			T	NUP98	AML																																	dbGAP		Dom	yes		8	8p12	54904	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)		L	0													162.0	149.0	153.0					8																	38173007		1919	4137	6056	-	-	-	SO:0001583	missense	0			AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.2042C>T	8.37:g.38173007G>A	ENSP00000313983:p.Ser681Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Missense_Mutation	SNP	pfam_PWWP,pfam_SET_dom,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.S681F	ENST00000317025.8	37	c.2042	CCDS43729.1	8	.	.	.	.	.	.	.	.	.	.	G	26.1	4.705335	0.89018	.	.	ENSG00000147548	ENST00000433384;ENST00000317025;ENST00000446459;ENST00000527502	D;D;D	0.95518	-3.73;-3.73;-3.73	6.01	6.01	0.97437	Zinc finger, FYVE/PHD-type (1);	0.000000	0.48286	U	0.000194	D	0.97343	0.9131	L	0.58101	1.795	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.87578	0.996;0.998;0.996	D	0.97420	1.0008	10	0.87932	D	0	.	20.5211	0.99222	0.0:0.0:1.0:0.0	.	681;681;681	B7ZL11;Q9BZ95-2;Q9BZ95	.;.;NSD3_HUMAN	F	681;681;618;681	ENSP00000393284:S681F;ENSP00000313983:S681F;ENSP00000434730:S681F	ENSP00000313983:S681F	S	-	2	0	WHSC1L1	38292164	1.000000	0.71417	0.993000	0.49108	0.972000	0.66771	9.476000	0.97823	2.861000	0.98227	0.650000	0.86243	TCT	WHSC1L1	-	superfamily_Znf_FYVE_PHD	ENSG00000147548		0.413	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WHSC1L1	HGNC	protein_coding	OTTHUMT00000381924.3	100	0.00	0	G	NM_023034		38173007	38173007	-1	no_errors	ENST00000317025	ensembl	human	known	69_37n	missense	27	50.00	27	SNP	1.000	A
NELFA	7469	genome.wustl.edu	37	4	1986609	1986609	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:1986609G>C	ENST00000411638.2	-	8	977	c.962C>G	c.(961-963)tCc>tGc	p.S321C	MIR943_ENST00000401286.1_RNA|NELFA_ENST00000382882.3_Missense_Mutation_p.S332C|NELFA_ENST00000542778.1_Missense_Mutation_p.S186C	NM_005663.4	NP_005654.3	Q9H3P2	NELFA_HUMAN	negative elongation factor complex member A	321					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)										GTAGCTCGTGGAGGGCAGCGC	0.602																																						dbGAP											0													99.0	92.0	94.0					4																	1986609		2190	4296	6486	-	-	-	SO:0001583	missense	0			AF101434	CCDS3358.2	4p16.3	2013-01-31	2013-01-31	2013-01-31	ENSG00000185049	ENSG00000185049			12768	protein-coding gene	gene with protein product		606026	"""Wolf-Hirschhorn syndrome candidate 2"""	WHSC2		10409432	Standard	NM_005663		Approved	NELF-A	uc003gem.3	Q9H3P2	OTTHUMG00000089967	ENST00000411638.2:c.962C>G	4.37:g.1986609G>C	ENSP00000399165:p.Ser321Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2T1|O95392	Missense_Mutation	SNP	NULL	p.S332C	ENST00000411638.2	37	c.995		4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.134384|5.134384	0.94517|0.94517	.|.	.|.	ENSG00000185049|ENSG00000185049	ENST00000453740|ENST00000382882;ENST00000416258;ENST00000542778;ENST00000411638	.|T;T;T;T	.|0.58652	.|0.32;0.32;0.32;0.32	5.13|5.13	5.13|5.13	0.70059|0.70059	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.73791|0.73791	0.3632|0.3632	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.81914	.|0.995	T|T	0.76130|0.76130	-0.3072|-0.3072	5|10	.|0.66056	.|D	.|0.02	-41.4859|-41.4859	18.5799|18.5799	0.91167|0.91167	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|321	.|Q9H3P2	.|NELFA_HUMAN	A|C	222|332;325;186;321	.|ENSP00000372335:S332C;ENSP00000387647:S325C;ENSP00000445757:S186C;ENSP00000399165:S321C	.|ENSP00000372335:S332C	P|S	-|-	1|2	0|0	WHSC2|WHSC2	1956407|1956407	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.960000|0.960000	0.62799|0.62799	9.338000|9.338000	0.96553|0.96553	2.399000|2.399000	0.81585|0.81585	0.655000|0.655000	0.94253|0.94253	CCA|TCC	WHSC2	-	NULL	ENSG00000185049		0.602	NELFA-015	NOVEL	basic|appris_principal	protein_coding	WHSC2	HGNC	protein_coding	OTTHUMT00000473007.1	113	0.00	0	G	NM_005663		1986609	1986609	-1	no_errors	ENST00000382882	ensembl	human	known	69_37n	missense	75	27.18	28	SNP	1.000	C
WIPI1	55062	genome.wustl.edu	37	17	66446899	66446899	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:66446899G>A	ENST00000262139.5	-	3	302	c.303C>T	c.(301-303)agC>agT	p.S101S	WIPI1_ENST00000589459.1_5'UTR|WIPI1_ENST00000546360.1_Silent_p.S19S	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	101					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|autophagy (GO:0006914)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|vesicle targeting, trans-Golgi to endosome (GO:0048203)	autophagic vacuole membrane (GO:0000421)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|trans-Golgi network (GO:0005802)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						ACAAGATGTTGCTGGAGTAGC	0.478																																						dbGAP											0													232.0	199.0	210.0					17																	66446899		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS11677.1	17q24.2	2014-02-12				ENSG00000070540		"""WD repeat domain containing"""	25471	protein-coding gene	gene with protein product		609224				15020712, 15602573	Standard	NM_017983		Approved	FLJ10055, WIPI49, Atg18, ATG18A	uc010dey.3	Q5MNZ9		ENST00000262139.5:c.303C>T	17.37:g.66446899G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IXM5|Q9NWF8	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.S101	ENST00000262139.5	37	c.303	CCDS11677.1	17																																																																																			WIPI1	-	superfamily_WD40_repeat_dom	ENSG00000070540		0.478	WIPI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	WIPI1	HGNC	protein_coding	OTTHUMT00000448739.1	121	0.00	0	G	NM_017983		66446899	66446899	-1	no_errors	ENST00000262139	ensembl	human	known	69_37n	silent	143	12.80	21	SNP	1.000	A
WISP3	8838	genome.wustl.edu	37	6	112389545	112389545	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:112389545G>C	ENST00000368666.2	+	4	1013	c.727G>C	c.(727-729)Gag>Cag	p.E243Q	WISP3_ENST00000604763.1_Missense_Mutation_p.E243Q|WISP3_ENST00000409166.1_Missense_Mutation_p.E19Q|WISP3_ENST00000230529.5_Missense_Mutation_p.E243Q|TUBE1_ENST00000604814.1_5'Flank|WISP3_ENST00000368663.3_Missense_Mutation_p.E220Q|WISP3_ENST00000361714.1_Missense_Mutation_p.E261Q	NM_198239.1	NP_937882.1	O95389	WISP3_HUMAN	WNT1 inducible signaling pathway protein 3	243	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	13		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		AATGAGAAAAGAGAAAAGACT	0.348																																						dbGAP											0													73.0	67.0	69.0					6																	112389545		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF100781	CCDS5097.1, CCDS5098.1	6q21	2014-05-06			ENSG00000112761	ENSG00000112761			12771	protein-coding gene	gene with protein product		603400				9843955	Standard	NM_003880		Approved	CCN6	uc003pvo.3	O95389	OTTHUMG00000185101	ENST00000368666.2:c.727G>C	6.37:g.112389545G>C	ENSP00000357655:p.Glu243Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3KR29|Q5H8W4|Q6UXH6	Missense_Mutation	SNP	pfam_IGFBP-like,pfam_Cys_knot,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt	p.E261Q	ENST00000368666.2	37	c.781	CCDS5098.1	6	.	.	.	.	.	.	.	.	.	.	G	15.75	2.924249	0.52653	.	.	ENSG00000112761	ENST00000368666;ENST00000230529;ENST00000541491;ENST00000361714;ENST00000368663;ENST00000409166	T;T;T;T;D	0.83591	-0.02;-0.02;-0.02;-0.02;-1.74	5.8	5.8	0.92144	.	0.096519	0.64402	D	0.000001	D	0.84229	0.5426	L	0.43598	1.365	0.80722	D	1	D;D	0.89917	0.978;1.0	P;D	0.80764	0.825;0.994	T	0.78342	-0.2241	10	0.12103	T	0.63	-1.2761	20.0706	0.97721	0.0:0.0:1.0:0.0	.	261;243	O95389-2;O95389	.;WISP3_HUMAN	Q	243;243;19;261;220;19	ENSP00000357655:E243Q;ENSP00000230529:E243Q;ENSP00000354734:E261Q;ENSP00000357652:E220Q;ENSP00000386467:E19Q	ENSP00000230529:E243Q	E	+	1	0	WISP3	112496238	1.000000	0.71417	0.992000	0.48379	0.898000	0.52572	7.853000	0.86934	2.744000	0.94065	0.655000	0.94253	GAG	WISP3	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pirsf_IGFBP_CNN,pfscan_Thrombospondin_1_rpt	ENSG00000112761		0.348	WISP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	WISP3	HGNC	protein_coding	OTTHUMT00000041873.2	71	0.00	0	G	NM_003880		112389545	112389545	+1	no_errors	ENST00000361714	ensembl	human	known	69_37n	missense	38	35.59	21	SNP	1.000	C
WNK1	65125	genome.wustl.edu	37	12	936424	936424	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:936424G>C	ENST00000315939.6	+	3	1792	c.1149G>C	c.(1147-1149)gtG>gtC	p.V383V	WNK1_ENST00000530271.2_Silent_p.V383V|WNK1_ENST00000537687.1_Silent_p.V383V|WNK1_ENST00000447667.2_Silent_p.V383V|WNK1_ENST00000535572.1_Silent_p.V383V	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	383	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CCAAGAGTGTGATAGGTATGT	0.448																																					Colon(19;451 567 6672 12618 28860)	dbGAP											0													92.0	96.0	95.0					12																	936424		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.1149G>C	12.37:g.936424G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.V383	ENST00000315939.6	37	c.1149	CCDS8506.1	12																																																																																			WNK1	-	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	ENSG00000060237		0.448	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK1	HGNC	protein_coding	OTTHUMT00000206683.1	83	0.00	0	G	NM_018979		936424	936424	+1	no_errors	ENST00000530271	ensembl	human	known	69_37n	silent	43	27.12	16	SNP	0.999	C
WNK1	65125	genome.wustl.edu	37	12	939177	939177	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:939177G>C	ENST00000315939.6	+	4	1805	c.1162G>C	c.(1162-1164)Gag>Cag	p.E388Q	WNK1_ENST00000530271.2_Missense_Mutation_p.E388Q|WNK1_ENST00000537687.1_Missense_Mutation_p.E388Q|WNK1_ENST00000540360.1_3'UTR|WNK1_ENST00000535572.1_Missense_Mutation_p.E388Q	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	388	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			AGGTACCCCAGAGTTCATGGC	0.463																																					Colon(19;451 567 6672 12618 28860)	dbGAP											0													231.0	212.0	219.0					12																	939177		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.1162G>C	12.37:g.939177G>C	ENSP00000313059:p.Glu388Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E388Q	ENST00000315939.6	37	c.1162	CCDS8506.1	12	.	.	.	.	.	.	.	.	.	.	G	32	5.135550	0.94517	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000530271	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	5.35	5.35	0.76521	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000006	T	0.67268	0.2875	N	0.04018	-0.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.986;0.996	T	0.77517	-0.2558	10	0.87932	D	0	-15.5532	19.058	0.93074	0.0:0.0:1.0:0.0	.	388;388	F5GWT4;Q9H4A3	.;WNK1_HUMAN	Q	388	ENSP00000441972:E388Q;ENSP00000313059:E388Q;ENSP00000444465:E388Q;ENSP00000433548:E388Q	ENSP00000313059:E388Q	E	+	1	0	WNK1	809438	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.483000	0.83821	0.467000	0.42956	GAG	WNK1	-	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	ENSG00000060237		0.463	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK1	HGNC	protein_coding	OTTHUMT00000206683.1	154	0.00	0	G	NM_018979		939177	939177	+1	no_errors	ENST00000530271	ensembl	human	known	69_37n	missense	56	35.63	31	SNP	1.000	C
WNK4	65266	genome.wustl.edu	37	17	40936072	40936072	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:40936072C>T	ENST00000246914.5	+	3	930	c.909C>T	c.(907-909)ctC>ctT	p.L303L		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	303	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		ACCGGGATCTCAAGTGCGACA	0.602																																					Esophageal Squamous(6;201 374 4964 23855 42828)	dbGAP											0													126.0	120.0	122.0					17																	40936072		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"""protein kinase, lysine deficient 4"""	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.909C>T	17.37:g.40936072C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L303	ENST00000246914.5	37	c.909	CCDS11439.1	17																																																																																			WNK4	-	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	ENSG00000126562		0.602	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK4	HGNC	protein_coding	OTTHUMT00000452389.1	55	0.00	0	C			40936072	40936072	+1	no_errors	ENST00000246914	ensembl	human	known	69_37n	silent	33	35.29	18	SNP	1.000	T
WNT7A	7476	genome.wustl.edu	37	3	13921257	13921257	+	Silent	SNP	G	G	C	rs377577708		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:13921257G>C	ENST00000285018.4	-	1	361	c.57C>G	c.(55-57)gtC>gtG	p.V19V	WNT7A_ENST00000497808.1_5'Flank	NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	19					asymmetric protein localization (GO:0008105)|canonical Wnt signaling pathway (GO:0060070)|cartilage condensation (GO:0001502)|cell fate commitment (GO:0045165)|cell proliferation in forebrain (GO:0021846)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system vasculogenesis (GO:0022009)|cerebellar granule cell differentiation (GO:0021707)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment of cell polarity (GO:0030010)|lens fiber cell development (GO:0070307)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neurogenesis (GO:0050768)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|non-canonical Wnt signaling pathway (GO:0035567)|oviduct development (GO:0060066)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of axon diameter (GO:0031133)|response to estradiol (GO:0032355)|sex differentiation (GO:0007548)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|stem cell development (GO:0048864)|synapse organization (GO:0050808)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway involved in wound healing, spreading of epidermal cells (GO:0035659)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						TCCGGAGGTAGACCATGCCCA	0.692																																						dbGAP											0													47.0	47.0	47.0					3																	13921257		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D83175	CCDS2616.1	3p25	2008-07-18			ENSG00000154764	ENSG00000154764		"""Wingless-type MMTV integration sites"""	12786	protein-coding gene	gene with protein product	"""proto-oncogene Wnt7a protein"""	601570				8893824, 9161407	Standard	NM_004625		Approved		uc003bye.1	O00755	OTTHUMG00000129803	ENST00000285018.4:c.57C>G	3.37:g.13921257G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96H90|Q9Y560	Silent	SNP	pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt7	p.V19	ENST00000285018.4	37	c.57	CCDS2616.1	3																																																																																			WNT7A	-	prints_Wnt7	ENSG00000154764		0.692	WNT7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT7A	HGNC	protein_coding	OTTHUMT00000252031.2	25	0.00	0	G	NM_004625		13921257	13921257	-1	no_errors	ENST00000285018	ensembl	human	known	69_37n	silent	19	24.00	6	SNP	0.957	C
WRN	7486	genome.wustl.edu	37	8	30933780	30933780	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:30933780C>T	ENST00000298139.5	+	8	1065	c.816C>T	c.(814-816)ttC>ttT	p.F272F		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	272	Interaction with WRNIP1. {ECO:0000250}.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTCATGCTTTCAGTAAATTGG	0.343			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)	dbGAP	yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Werner syndrome (RECQL2)		"""L, E, M, O"""	0													85.0	85.0	85.0					8																	30933780		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	WS, Adult Progeria		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.816C>T	8.37:g.30933780C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A1KYY9	Silent	SNP	pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/RNaseD_C,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_Helicase/RNaseD_C,pfscan_Helicase/RNaseD_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.F272	ENST00000298139.5	37	c.816	CCDS6082.1	8																																																																																			WRN	-	NULL	ENSG00000165392		0.343	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WRN	HGNC	protein_coding	OTTHUMT00000376248.1	66	0.00	0	C			30933780	30933780	+1	no_errors	ENST00000298139	ensembl	human	known	69_37n	silent	21	46.15	18	SNP	0.000	T
WWC1	23286	genome.wustl.edu	37	5	167871546	167871546	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:167871546G>C	ENST00000265293.4	+	17	2983	c.2481G>C	c.(2479-2481)aaG>aaC	p.K827N	WWC1_ENST00000521089.1_Missense_Mutation_p.K827N|WWC1_ENST00000522140.1_3'UTR	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	827	Glu-rich.				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)		agctggagaagaggcaggagg	0.602																																						dbGAP											0													53.0	49.0	50.0					5																	167871546		2201	4300	6501	-	-	-	SO:0001583	missense	0			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.2481G>C	5.37:g.167871546G>C	ENSP00000265293:p.Lys827Asn	Somatic		WXS	Illumina GAIIx	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.K827N	ENST00000265293.4	37	c.2481	CCDS4366.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.63|15.63	2.889453|2.889453	0.52014|0.52014	.|.	.|.	ENSG00000113645|ENSG00000113645	ENST00000393895;ENST00000524228|ENST00000265293;ENST00000521089;ENST00000524038	.|T;T;T	.|0.53423	.|0.62;0.62;0.62	4.44|4.44	4.44|4.44	0.53790|0.53790	.|.	.|0.612048	.|0.16370	.|N	.|0.217375	T|T	0.53658|0.53658	0.1810|0.1810	N|N	0.22421|0.22421	0.69|0.69	0.36801|0.36801	D|D	0.885363|0.885363	.|D;D	.|0.89917	.|1.0;0.999	.|D;D	.|0.83275	.|0.996;0.991	T|T	0.58306|0.58306	-0.7659|-0.7659	5|10	.|0.46703	.|T	.|0.11	.|.	12.776|12.776	0.57448|0.57448	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|827;827	.|Q8IX03-2;Q8IX03	.|.;KIBRA_HUMAN	Q|N	789;604|827;827;153	.|ENSP00000265293:K827N;ENSP00000427772:K827N;ENSP00000428084:K153N	.|ENSP00000265293:K827N	E|K	+|+	1|3	0|2	WWC1|WWC1	167804124|167804124	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	2.617000|2.617000	0.46385|0.46385	2.457000|2.457000	0.83068|0.83068	0.462000|0.462000	0.41574|0.41574	GAG|AAG	WWC1	-	NULL	ENSG00000113645		0.602	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	WWC1	HGNC	protein_coding	OTTHUMT00000252791.2	35	0.00	0	G	NM_015238		167871546	167871546	+1	no_errors	ENST00000265293	ensembl	human	known	69_37n	missense	25	24.24	8	SNP	1.000	C
WWC2	80014	genome.wustl.edu	37	4	184182396	184182396	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:184182396G>A	ENST00000403733.3	+	11	1819	c.1620G>A	c.(1618-1620)ccG>ccA	p.P540P	WWC2_ENST00000448232.2_Silent_p.P540P|WWC2_ENST00000504005.1_Silent_p.P222P|WWC2_ENST00000378925.3_Silent_p.P442P|WWC2_ENST00000513834.1_Silent_p.P540P	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	540					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)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		CTGAGGCCCCGAAGTCTGTGG	0.597																																						dbGAP											0													72.0	57.0	62.0					4																	184182396		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC017957	CCDS34109.2	4q35.1	2010-08-05	2006-11-09		ENSG00000151718	ENSG00000151718		"""WW, C2 and coiled-coil domain containing"""	24148	protein-coding gene	gene with protein product			"""WW, C2 and coiled-coil domain containing 2"""			12477932	Standard	NM_024949		Approved	BOMB, FLJ22029	uc010irx.3	Q6AWC2	OTTHUMG00000150685	ENST00000403733.3:c.1620G>A	4.37:g.184182396G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q32Q84|Q69YQ1|Q6AWB8|Q6ZSY9|Q6ZU09|Q7Z620|Q8TEB8|Q9H6P0	Silent	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.P540	ENST00000403733.3	37	c.1620	CCDS34109.2	4																																																																																			WWC2	-	NULL	ENSG00000151718		0.597	WWC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	WWC2	HGNC	protein_coding	OTTHUMT00000319608.1	96	0.00	0	G	NM_024949		184182396	184182396	+1	no_errors	ENST00000448232	ensembl	human	known	69_37n	silent	59	28.05	23	SNP	1.000	A
WWP1	11059	genome.wustl.edu	37	8	87443920	87443920	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:87443920C>T	ENST00000517970.1	+	14	1856	c.1549C>T	c.(1549-1551)Cat>Tat	p.H517Y	WWP1_ENST00000341922.2_Missense_Mutation_p.H387Y|WWP1_ENST00000349423.2_Missense_Mutation_p.H299Y|WWP1_ENST00000265428.4_Missense_Mutation_p.H517Y	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	517	WW 4. {ECO:0000255|PROSITE- ProRule:PRU00224}.				central nervous system development (GO:0007417)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						CTTTGTTGATCATAACACAAG	0.378																																						dbGAP											0													110.0	109.0	109.0					8																	87443920		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY043361	CCDS6242.1	8q21.3	2013-07-22			ENSG00000123124	ENSG00000123124			17004	protein-coding gene	gene with protein product		602307				9169421, 9647693	Standard	NM_007013		Approved	AIP5, DKFZP434D2111	uc003ydt.3	Q9H0M0	OTTHUMG00000163690	ENST00000517970.1:c.1549C>T	8.37:g.87443920C>T	ENSP00000427793:p.His517Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	O00307|Q5YLC1|Q96BP4	Missense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP	p.H517Y	ENST00000517970.1	37	c.1549	CCDS6242.1	8	.	.	.	.	.	.	.	.	.	.	C	29.0	4.970255	0.92855	.	.	ENSG00000123124	ENST00000517970;ENST00000265428;ENST00000341922;ENST00000349423	D;D;D;D	0.84944	-1.92;-1.92;-1.92;-1.92	5.35	5.35	0.76521	WW/Rsp5/WWP (6);	0.186117	0.47093	D	0.000251	D	0.95223	0.8451	H	0.96460	3.825	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96583	0.9432	10	0.87932	D	0	.	19.0481	0.93030	0.0:1.0:0.0:0.0	.	299;517	Q9H0M0-6;Q9H0M0	.;WWP1_HUMAN	Y	517;517;387;299	ENSP00000427793:H517Y;ENSP00000265428:H517Y;ENSP00000340564:H387Y;ENSP00000342665:H299Y	ENSP00000265428:H517Y	H	+	1	0	WWP1	87513036	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.725000	0.84808	2.498000	0.84270	0.563000	0.77884	CAT	WWP1	-	pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	ENSG00000123124		0.378	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WWP1	HGNC	protein_coding	OTTHUMT00000374755.1	74	0.00	0	C	NM_007013		87443920	87443920	+1	no_errors	ENST00000265428	ensembl	human	known	69_37n	missense	76	14.61	13	SNP	1.000	T
WWP2	11060	genome.wustl.edu	37	16	69959378	69959378	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:69959378C>G	ENST00000359154.2	+	11	1326	c.1225C>G	c.(1225-1227)Cct>Gct	p.P409A	WWP2_ENST00000448661.1_Missense_Mutation_p.P409A|WWP2_ENST00000568684.1_5'UTR|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000542271.1_Missense_Mutation_p.P293A|WWP2_ENST00000356003.2_Missense_Mutation_p.P409A	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	409	WW 3. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCCCCTCCCTCCTGGCTGGGG	0.557																																						dbGAP											0													307.0	299.0	302.0					16																	69959378		2198	4300	6498	-	-	-	SO:0001583	missense	0			BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.1225C>G	16.37:g.69959378C>G	ENSP00000352069:p.Pro409Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Missense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_WW_Rsp5_WWP	p.P409A	ENST00000359154.2	37	c.1225	CCDS10885.1	16	.	.	.	.	.	.	.	.	.	.	C	13.75	2.331093	0.41297	.	.	ENSG00000198373	ENST00000359154;ENST00000448661;ENST00000356003;ENST00000544162;ENST00000542271	D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01	5.65	3.71	0.42584	WW/Rsp5/WWP (5);	0.257753	0.46145	D	0.000304	T	0.74199	0.3685	L	0.35723	1.085	0.53688	D	0.999978	B	0.02656	0.0	B	0.12837	0.008	T	0.65150	-0.6238	9	.	.	.	.	5.6624	0.17676	0.2684:0.5855:0.0:0.1461	.	409	O00308	WWP2_HUMAN	A	409;409;409;296;293	ENSP00000352069:P409A;ENSP00000396871:P409A;ENSP00000348283:P409A;ENSP00000445616:P293A	.	P	+	1	0	WWP2	68516879	0.943000	0.32029	0.993000	0.49108	0.995000	0.86356	1.247000	0.32815	1.394000	0.46624	0.557000	0.71058	CCT	WWP2	-	pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	ENSG00000198373		0.557	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WWP2	HGNC	protein_coding	OTTHUMT00000268954.1	183	0.00	0	C	NM_007014		69959378	69959378	+1	no_errors	ENST00000356003	ensembl	human	known	69_37n	missense	193	14.98	34	SNP	0.999	G
WWP2	11060	genome.wustl.edu	37	16	69971129	69971129	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:69971129G>C	ENST00000359154.2	+	20	2327	c.2226G>C	c.(2224-2226)gaG>gaC	p.E742D	WWP2_ENST00000448661.1_Missense_Mutation_p.E742D|WWP2_ENST00000568684.1_Missense_Mutation_p.E303D|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000542271.1_Missense_Mutation_p.E626D|WWP2_ENST00000356003.2_Missense_Mutation_p.E742D	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	742	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACTTTGACGAGAAAGAGCTGG	0.602																																						dbGAP											0													68.0	64.0	66.0					16																	69971129		2198	4300	6498	-	-	-	SO:0001583	missense	0			BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.2226G>C	16.37:g.69971129G>C	ENSP00000352069:p.Glu742Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Missense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_WW_Rsp5_WWP	p.E742D	ENST00000359154.2	37	c.2226	CCDS10885.1	16	.	.	.	.	.	.	.	.	.	.	G	19.11	3.764400	0.69878	.	.	ENSG00000198373	ENST00000359154;ENST00000545099;ENST00000448661;ENST00000356003;ENST00000544162;ENST00000542271	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	4.97	1.85	0.25348	HECT (4);	0.000000	0.85682	D	0.000000	T	0.63780	0.2540	M	0.82132	2.575	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63989	-0.6512	9	.	.	.	.	13.5574	0.61768	0.1872:0.0:0.8128:0.0	.	742	O00308	WWP2_HUMAN	D	742;303;742;742;629;626	ENSP00000352069:E742D;ENSP00000396871:E742D;ENSP00000348283:E742D;ENSP00000445616:E626D	.	E	+	3	2	WWP2	68528630	1.000000	0.71417	0.998000	0.56505	0.868000	0.49771	2.432000	0.44784	-0.019000	0.14055	-0.797000	0.03246	GAG	WWP2	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000198373		0.602	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WWP2	HGNC	protein_coding	OTTHUMT00000268954.1	41	0.00	0	G	NM_007014		69971129	69971129	+1	no_errors	ENST00000356003	ensembl	human	known	69_37n	missense	59	21.33	16	SNP	1.000	C
XAGE5	170627	genome.wustl.edu	37	X	52844169	52844169	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:52844169G>A	ENST00000375501.1	+	3	232	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K	XAGE5_ENST00000375503.3_3'UTR|XAGE5_ENST00000425386.1_Missense_Mutation_p.E78K|XAGE5_ENST00000445860.2_3'UTR|XAGE5_ENST00000351072.1_Missense_Mutation_p.E78K			Q8WWM1	XAGE5_HUMAN	X antigen family, member 5	78										endometrium(1)|large_intestine(1)|lung(5)|ovary(1)	8						GACTGGGGATGAATGCGGAGA	0.428																																						dbGAP											0													61.0	52.0	55.0					X																	52844169		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC069129	CCDS14346.1	Xp11.23	2010-10-19		2005-01-27	ENSG00000171405	ENSG00000171405			30930	protein-coding gene	gene with protein product	"""cancer/testis antigen family 12, member 5"""		"""G antigen, family D, 5"""	GAGED5		12477932	Standard	NM_130775		Approved	XAGE-5, CT12.5	uc004drd.1	Q8WWM1	OTTHUMG00000021589	ENST00000375501.1:c.232G>A	X.37:g.52844169G>A	ENSP00000364651:p.Glu78Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JS81	Missense_Mutation	SNP	pfam_GAGE	p.E78K	ENST00000375501.1	37	c.232	CCDS14346.1	X	.	.	.	.	.	.	.	.	.	.	g	6.806	0.517857	0.13005	.	.	ENSG00000171405	ENST00000351072;ENST00000425386;ENST00000375501	T;T;T	0.13307	2.6;2.6;2.6	0.785	-0.844	0.10741	.	.	.	.	.	T	0.14917	0.0360	M	0.75615	2.305	0.09310	N	1	B	0.12630	0.006	B	0.15484	0.013	T	0.29640	-1.0005	8	0.54805	T	0.06	.	.	.	.	.	78	Q8WWM1	GAGD5_HUMAN	K	78	ENSP00000342240:E78K;ENSP00000392864:E78K;ENSP00000364651:E78K	ENSP00000342240:E78K	E	+	1	0	XAGE5	52860894	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-0.383000	0.07398	-0.340000	0.08388	0.279000	0.19357	GAA	XAGE5	-	pfam_GAGE	ENSG00000171405		0.428	XAGE5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XAGE5	HGNC	protein_coding	OTTHUMT00000056689.1	143	0.00	0	G	NM_130775		52844169	52844169	+1	no_errors	ENST00000351072	ensembl	human	known	69_37n	missense	99	19.51	24	SNP	0.000	A
XBP1	7494	genome.wustl.edu	37	22	29193155	29193155	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:29193155C>G	ENST00000216037.6	-	3	435	c.363G>C	c.(361-363)gaG>gaC	p.E121D	XBP1_ENST00000403532.3_Missense_Mutation_p.E126D|XBP1_ENST00000344347.5_Missense_Mutation_p.E121D|XBP1_ENST00000405219.3_Missense_Mutation_p.E71D	NM_001079539.1|NM_005080.3	NP_001073007.1|NP_005071.2	P17861	XBP1_HUMAN	X-box binding protein 1	121	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to antibiotic (GO:0071236)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial cell maturation involved in salivary gland development (GO:0060691)|exocrine pancreas development (GO:0031017)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|positive regulation of endoplasmic reticulum unfolded protein response (GO:1900103)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|serotonin secretion, neurotransmission (GO:0060096)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|large_intestine(1)|lung(1)	5						CATGAGTTTTCTCTCGTAAAA	0.413																																						dbGAP											0													82.0	83.0	82.0					22																	29193155		2203	4300	6503	-	-	-	SO:0001583	missense	0			M31627	CCDS13847.1	22q12.1	2013-01-10			ENSG00000100219	ENSG00000100219		"""basic leucine zipper proteins"""	12801	protein-coding gene	gene with protein product		194355		XBP2		1718857, 2196176	Standard	NM_001079539		Approved		uc003aec.3	P17861	OTTHUMG00000151094	ENST00000216037.6:c.363G>C	22.37:g.29193155C>G	ENSP00000216037:p.Glu121Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WYK6|Q969P1|Q96BD7	Missense_Mutation	SNP	pfam_bZIP_2,pfam_bZIP_1,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.E121D	ENST00000216037.6	37	c.363	CCDS13847.1	22	.	.	.	.	.	.	.	.	.	.	C	18.16	3.562830	0.65538	.	.	ENSG00000100219	ENST00000216037;ENST00000403532;ENST00000344347;ENST00000405219	.	.	.	5.87	3.8	0.43715	.	0.044723	0.85682	D	0.000000	T	0.62986	0.2473	L	0.37630	1.12	0.51767	D	0.999932	B;D	0.69078	0.148;0.997	B;D	0.79108	0.07;0.992	T	0.60016	-0.7345	9	0.39692	T	0.17	.	9.4013	0.38435	0.0:0.722:0.0:0.278	.	121;71	P17861-2;B1AHH1	.;.	D	121;126;121;71	.	ENSP00000216037:E121D	E	-	3	2	XBP1	27523155	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.840000	0.27600	0.951000	0.37770	-0.137000	0.14449	GAG	XBP1	-	pfam_bZIP_1,smart_bZIP,pfscan_bZIP	ENSG00000100219		0.413	XBP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	XBP1	HGNC	protein_coding	OTTHUMT00000321274.1	100	0.00	0	C	NM_005080		29193155	29193155	-1	no_errors	ENST00000344347	ensembl	human	known	69_37n	missense	136	20.00	34	SNP	1.000	G
XBP1	7494	genome.wustl.edu	37	22	29195100	29195100	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:29195100C>G	ENST00000216037.6	-	2	341	c.269G>C	c.(268-270)cGa>cCa	p.R90P	CTA-292E10.6_ENST00000418292.1_RNA|XBP1_ENST00000403532.3_Missense_Mutation_p.R90P|CTA-292E10.6_ENST00000458080.1_RNA|CTA-292E10.6_ENST00000585003.1_RNA|XBP1_ENST00000344347.5_Missense_Mutation_p.R90P|XBP1_ENST00000405219.3_Missense_Mutation_p.R40P|CTA-292E10.6_ENST00000451486.1_RNA	NM_001079539.1|NM_005080.3	NP_001073007.1|NP_005071.2	P17861	XBP1_HUMAN	X-box binding protein 1	90	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to antibiotic (GO:0071236)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial cell maturation involved in salivary gland development (GO:0060691)|exocrine pancreas development (GO:0031017)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|positive regulation of endoplasmic reticulum unfolded protein response (GO:1900103)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|serotonin secretion, neurotransmission (GO:0060096)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|large_intestine(1)|lung(1)	5						AGCCTTCTTTCGATCTCTGGC	0.388																																						dbGAP											0													116.0	104.0	108.0					22																	29195100		2203	4300	6503	-	-	-	SO:0001583	missense	0			M31627	CCDS13847.1	22q12.1	2013-01-10			ENSG00000100219	ENSG00000100219		"""basic leucine zipper proteins"""	12801	protein-coding gene	gene with protein product		194355		XBP2		1718857, 2196176	Standard	NM_001079539		Approved		uc003aec.3	P17861	OTTHUMG00000151094	ENST00000216037.6:c.269G>C	22.37:g.29195100C>G	ENSP00000216037:p.Arg90Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WYK6|Q969P1|Q96BD7	Missense_Mutation	SNP	pfam_bZIP_2,pfam_bZIP_1,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.R90P	ENST00000216037.6	37	c.269	CCDS13847.1	22	.	.	.	.	.	.	.	.	.	.	C	31	5.093301	0.94149	.	.	ENSG00000100219	ENST00000216037;ENST00000403532;ENST00000344347;ENST00000405219	.	.	.	5.26	5.26	0.73747	.	0.115638	0.64402	D	0.000009	D	0.87450	0.6180	H	0.95151	3.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.91224	0.5009	9	0.87932	D	0	.	17.4401	0.87562	0.0:1.0:0.0:0.0	.	90;40	P17861-2;B1AHH1	.;.	P	90;90;90;40	.	ENSP00000216037:R90P	R	-	2	0	XBP1	27525100	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	6.554000	0.73923	2.454000	0.82982	0.655000	0.94253	CGA	XBP1	-	pfam_bZIP_2,pfam_bZIP_1,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP	ENSG00000100219		0.388	XBP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	XBP1	HGNC	protein_coding	OTTHUMT00000321274.1	126	0.00	0	C	NM_005080		29195100	29195100	-1	no_errors	ENST00000344347	ensembl	human	known	69_37n	missense	154	25.24	52	SNP	1.000	G
XIRP2	129446	genome.wustl.edu	37	2	168100820	168100820	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:168100820G>C	ENST00000409195.1	+	9	3007	c.2918G>C	c.(2917-2919)aGa>aCa	p.R973T	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.R973T|XIRP2_ENST00000409273.1_Missense_Mutation_p.R751T|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	798					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						GGAGTTACAAGAGGTGCTGTA	0.358																																						dbGAP											0													54.0	50.0	51.0					2																	168100820		1849	4096	5945	-	-	-	SO:0001583	missense	0			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	ENST00000409195.1:c.2918G>C	2.37:g.168100820G>C	ENSP00000386840:p.Arg973Thr	Somatic		WXS	Illumina GAIIx	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.R973T	ENST00000409195.1	37	c.2918	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	G	6.984	0.551693	0.13374	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02606	4.23;4.23;4.23	6.08	3.31	0.37934	.	0.087768	0.85682	D	0.000000	T	0.02418	0.0074	N	0.19112	0.55	0.09310	N	1	B;P;P	0.35272	0.361;0.493;0.493	B;B;B	0.41894	0.203;0.369;0.369	T	0.47071	-0.9145	10	0.14252	T	0.57	-5.4589	6.3182	0.21202	0.2636:0.0:0.6151:0.1213	.	798;798;751	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	T	973;973;751	ENSP00000386840:R973T;ENSP00000295237:R973T;ENSP00000387255:R751T	ENSP00000295237:R973T	R	+	2	0	XIRP2	167809066	0.002000	0.14202	0.936000	0.37596	0.455000	0.32408	0.107000	0.15375	0.917000	0.36895	-0.136000	0.14681	AGA	XIRP2	-	NULL	ENSG00000163092		0.358	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1	31	0.00	0	G	NM_152381		168100820	168100820	+1	no_errors	ENST00000295237	ensembl	human	known	69_37n	missense	24	14.29	4	SNP	0.002	C
XIRP2	129446	genome.wustl.edu	37	2	168101809	168101809	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:168101809G>A	ENST00000409195.1	+	9	3996	c.3907G>A	c.(3907-3909)Gaa>Aaa	p.E1303K	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E1303K|XIRP2_ENST00000409273.1_Missense_Mutation_p.E1081K|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1128					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						AATTACTGAAGAAGTAATACA	0.383																																						dbGAP											0													79.0	74.0	76.0					2																	168101809		1845	4092	5937	-	-	-	SO:0001583	missense	0			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	ENST00000409195.1:c.3907G>A	2.37:g.168101809G>A	ENSP00000386840:p.Glu1303Lys	Somatic		WXS	Illumina GAIIx	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.E1303K	ENST00000409195.1	37	c.3907	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	G	15.83	2.949314	0.53186	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02837	4.14;4.14;4.14	5.78	5.78	0.91487	.	0.102783	0.64402	D	0.000004	T	0.13543	0.0328	M	0.65975	2.015	0.58432	D	0.999996	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.80764	0.994;0.961;0.961	T	0.00056	-1.2177	10	0.49607	T	0.09	-14.9965	15.5118	0.75789	0.0:0.0:0.8611:0.1389	.	1128;1128;1081	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	K	1303;1303;1081	ENSP00000386840:E1303K;ENSP00000295237:E1303K;ENSP00000387255:E1081K	ENSP00000295237:E1303K	E	+	1	0	XIRP2	167810055	1.000000	0.71417	0.993000	0.49108	0.607000	0.37147	6.400000	0.73252	2.744000	0.94065	0.563000	0.77884	GAA	XIRP2	-	NULL	ENSG00000163092		0.383	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1	68	0.00	0	G	NM_152381		168101809	168101809	+1	no_errors	ENST00000295237	ensembl	human	known	69_37n	missense	45	11.76	6	SNP	1.000	A
XIRP2	129446	genome.wustl.edu	37	2	168106293	168106293	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:168106293C>G	ENST00000409195.1	+	9	8480	c.8391C>G	c.(8389-8391)ctC>ctG	p.L2797L	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Silent_p.L2797L|XIRP2_ENST00000409273.1_Silent_p.L2575L|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2622					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						AAGATAAGCTCAAGATGGTTC	0.413																																						dbGAP											0													70.0	68.0	68.0					2																	168106293		1865	4105	5970	-	-	-	SO:0001819	synonymous_variant	0			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	ENST00000409195.1:c.8391C>G	2.37:g.168106293C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd	p.L2797	ENST00000409195.1	37	c.8391	CCDS42769.1	2																																																																																			XIRP2	-	NULL	ENSG00000163092		0.413	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1	40	0.00	0	C	NM_152381		168106293	168106293	+1	no_errors	ENST00000295237	ensembl	human	known	69_37n	silent	37	22.92	11	SNP	0.000	G
XIRP2	129446	genome.wustl.edu	37	2	168106546	168106546	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:168106546G>C	ENST00000409195.1	+	9	8733	c.8644G>C	c.(8644-8646)Gaa>Caa	p.E2882Q	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E2882Q|XIRP2_ENST00000409273.1_Missense_Mutation_p.E2660Q|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2707					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						AAGTAAAGCTGAACATAAAAA	0.388																																						dbGAP											0													76.0	73.0	74.0					2																	168106546		1842	4084	5926	-	-	-	SO:0001583	missense	0			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	ENST00000409195.1:c.8644G>C	2.37:g.168106546G>C	ENSP00000386840:p.Glu2882Gln	Somatic		WXS	Illumina GAIIx	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.E2882Q	ENST00000409195.1	37	c.8644	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	G	10.73	1.433384	0.25813	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02837	4.14;4.14;4.14	6.02	4.97	0.65823	.	0.709653	0.14568	N	0.311648	T	0.04634	0.0126	M	0.65975	2.015	0.09310	N	1	B;B;B	0.19073	0.02;0.033;0.033	B;B;B	0.19391	0.011;0.025;0.025	T	0.27297	-1.0078	10	0.27082	T	0.32	-24.0576	8.6185	0.33847	0.0895:0.1581:0.7524:0.0	.	2707;2707;2660	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	Q	2882;2882;2660;296	ENSP00000386840:E2882Q;ENSP00000295237:E2882Q;ENSP00000387255:E2660Q	ENSP00000295237:E2882Q	E	+	1	0	XIRP2	167814792	0.818000	0.29161	0.814000	0.32528	0.722000	0.41435	1.165000	0.31822	2.865000	0.98341	0.655000	0.94253	GAA	XIRP2	-	NULL	ENSG00000163092		0.388	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1	55	0.00	0	G	NM_152381		168106546	168106546	+1	no_errors	ENST00000295237	ensembl	human	known	69_37n	missense	45	26.98	17	SNP	0.151	C
XIRP2	129446	genome.wustl.edu	37	2	168107180	168107180	+	Missense_Mutation	SNP	G	G	A	rs576110894	byFrequency	TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:168107180G>A	ENST00000409195.1	+	9	9367	c.9278G>A	c.(9277-9279)cGt>cAt	p.R3093H	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.R3093H|XIRP2_ENST00000409273.1_Missense_Mutation_p.R2871H|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2918					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						GCAACTGTTCGTAGTCACGTG	0.378													g|||	2	0.000399361	0.0	0.0	5008	,	,		18568	0.002		0.0	False		,,,				2504	0.0					dbGAP											0													82.0	80.0	81.0					2																	168107180		1922	4136	6058	-	-	-	SO:0001583	missense	0			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	ENST00000409195.1:c.9278G>A	2.37:g.168107180G>A	ENSP00000386840:p.Arg3093His	Somatic		WXS	Illumina GAIIx	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.R3093H	ENST00000409195.1	37	c.9278	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	g	0	-2.803731	0.00075	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02472	4.28;4.28;4.29	5.77	-2.65	0.06095	.	1.654000	0.03033	N	0.152381	T	0.01320	0.0043	N	0.02539	-0.55	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.44907	-0.9297	10	0.33141	T	0.24	5.0972	2.4127	0.04429	0.5158:0.1136:0.2608:0.1097	.	2918;2918;2871	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	H	3093;3093;2871;507	ENSP00000386840:R3093H;ENSP00000295237:R3093H;ENSP00000387255:R2871H	ENSP00000295237:R3093H	R	+	2	0	XIRP2	167815426	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.185000	0.03073	-0.451000	0.07097	-1.784000	0.00644	CGT	XIRP2	-	NULL	ENSG00000163092		0.378	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1	80	0.00	0	G	NM_152381		168107180	168107180	+1	no_errors	ENST00000295237	ensembl	human	known	69_37n	missense	73	12.05	10	SNP	0.000	A
XPC	7508	genome.wustl.edu	37	3	14190090	14190090	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:14190090C>G	ENST00000285021.7	-	13	2606	c.2392G>C	c.(2392-2394)Gat>Cat	p.D798H	XPC_ENST00000449060.2_Missense_Mutation_p.D761H|AC093495.4_ENST00000420253.1_RNA|AC093495.4_ENST00000428681.3_RNA	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	798	DNA-binding; preference for single stranded DNA; required for formation of stable nucleoprotein complex.				DNA repair (GO:0006281)|intra-S DNA damage checkpoint (GO:0031573)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to drug (GO:0042493)|response to UV-B (GO:0010224)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|XPC complex (GO:0071942)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|heteroduplex DNA loop binding (GO:0000404)|single-stranded DNA binding (GO:0003697)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCATGGAAATCAAAGCCAGTG	0.592			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													dbGAP	yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	"""xeroderma pigmentosum, complementation group C"""		E	0													68.0	68.0	68.0					3																	14190090		2013	4172	6185	-	-	-	SO:0001583	missense	0	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV		CCDS46763.1	3p25.1	2014-09-17			ENSG00000154767	ENSG00000154767			12816	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group C protein"""	613208				1522891	Standard	NM_004628		Approved	XPCC, RAD4	uc011ave.2	Q01831	OTTHUMG00000155526	ENST00000285021.7:c.2392G>C	3.37:g.14190090C>G	ENSP00000285021:p.Asp798His	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Missense_Mutation	SNP	pfam_Rad4/PNGase_transGLS-fold,pfam_Rad4_beta-hairpin_dom3,pfam_Rad4_beta-hairpin_dom2,pfam_Rad4_beta-hairpin_dom1,tigrfam_DNA_repair_Rad4_subgr	p.D798H	ENST00000285021.7	37	c.2392	CCDS46763.1	3	.	.	.	.	.	.	.	.	.	.	C	29.7	5.024736	0.93518	.	.	ENSG00000154767	ENST00000285021;ENST00000449060	T;T	0.38240	1.15;1.18	5.79	5.79	0.91817	DNA repair protein Rad4, DNA-binding domain 3 (1);	0.000000	0.85682	D	0.000000	T	0.64897	0.2640	M	0.79805	2.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.64681	-0.6350	10	0.49607	T	0.09	-29.8032	20.0207	0.97499	0.0:1.0:0.0:0.0	.	761;798	E9PH69;Q01831	.;XPC_HUMAN	H	798;761	ENSP00000285021:D798H;ENSP00000404002:D761H	ENSP00000285021:D798H	D	-	1	0	XPC	14165091	1.000000	0.71417	0.995000	0.50966	0.855000	0.48748	7.586000	0.82596	2.739000	0.93911	0.563000	0.77884	GAT	XPC	-	pfam_Rad4_beta-hairpin_dom3,tigrfam_DNA_repair_Rad4_subgr	ENSG00000154767		0.592	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	XPC	HGNC	protein_coding	OTTHUMT00000340517.3	32	0.00	0	C	NM_004628		14190090	14190090	-1	no_errors	ENST00000285021	ensembl	human	known	69_37n	missense	75	15.73	14	SNP	1.000	G
XPC	7508	genome.wustl.edu	37	3	14200089	14200089	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:14200089C>G	ENST00000285021.7	-	9	1508	c.1294G>C	c.(1294-1296)Gag>Cag	p.E432Q	XPC_ENST00000449060.2_Missense_Mutation_p.E395Q	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	432	Asp/Glu-rich (acidic).				DNA repair (GO:0006281)|intra-S DNA damage checkpoint (GO:0031573)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to drug (GO:0042493)|response to UV-B (GO:0010224)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|XPC complex (GO:0071942)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|heteroduplex DNA loop binding (GO:0000404)|single-stranded DNA binding (GO:0003697)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCACTCTCCTCTTTATAAGAC	0.612			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													dbGAP	yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	"""xeroderma pigmentosum, complementation group C"""		E	0													87.0	90.0	89.0					3																	14200089		1568	3582	5150	-	-	-	SO:0001583	missense	0	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV		CCDS46763.1	3p25.1	2014-09-17			ENSG00000154767	ENSG00000154767			12816	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group C protein"""	613208				1522891	Standard	NM_004628		Approved	XPCC, RAD4	uc011ave.2	Q01831	OTTHUMG00000155526	ENST00000285021.7:c.1294G>C	3.37:g.14200089C>G	ENSP00000285021:p.Glu432Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Missense_Mutation	SNP	pfam_Rad4/PNGase_transGLS-fold,pfam_Rad4_beta-hairpin_dom3,pfam_Rad4_beta-hairpin_dom2,pfam_Rad4_beta-hairpin_dom1,tigrfam_DNA_repair_Rad4_subgr	p.E432Q	ENST00000285021.7	37	c.1294	CCDS46763.1	3	.	.	.	.	.	.	.	.	.	.	C	17.91	3.505240	0.64410	.	.	ENSG00000154767	ENST00000285021;ENST00000449060;ENST00000545431	T;T	0.37411	1.2;1.26	5.62	5.62	0.85841	.	0.049509	0.85682	D	0.000000	T	0.59783	0.2219	M	0.71581	2.175	0.80722	D	1	D;D	0.71674	0.998;0.998	P;D	0.63033	0.879;0.91	T	0.60826	-0.7186	10	0.59425	D	0.04	-25.5623	19.6614	0.95875	0.0:1.0:0.0:0.0	.	395;432	E9PH69;Q01831	.;XPC_HUMAN	Q	432;395;22	ENSP00000285021:E432Q;ENSP00000404002:E395Q	ENSP00000285021:E432Q	E	-	1	0	XPC	14175093	1.000000	0.71417	0.889000	0.34880	0.056000	0.15407	7.219000	0.78000	2.633000	0.89246	0.655000	0.94253	GAG	XPC	-	tigrfam_DNA_repair_Rad4_subgr	ENSG00000154767		0.612	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	XPC	HGNC	protein_coding	OTTHUMT00000340517.3	42	0.00	0	C	NM_004628		14200089	14200089	-1	no_errors	ENST00000285021	ensembl	human	known	69_37n	missense	58	18.31	13	SNP	1.000	G
XPO1	7514	genome.wustl.edu	37	2	61719760	61719760	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:61719760G>C	ENST00000401558.2	-	14	2235	c.1508C>G	c.(1507-1509)tCc>tGc	p.S503C	XPO1_ENST00000404992.2_Missense_Mutation_p.S503C|XPO1_ENST00000406957.1_Missense_Mutation_p.S503C	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1	503	Necessary for HTLV-1 Rex-mediated mRNA export.				gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein export from nucleus (GO:0006611)|protein localization to nucleus (GO:0034504)|regulation of centrosome duplication (GO:0010824)|regulation of protein catabolic process (GO:0042176)|regulation of protein export from nucleus (GO:0046825)|response to drug (GO:0042493)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleocytoplasmic transporter activity (GO:0005487)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			TCCACTAATGGAGCCTATTGC	0.358			Mis		CLL																																	dbGAP	-'	Dom	yes		2	2p15	7514	"""exportin 1 (CRM1 homolog, yeast)"""		L	0													101.0	92.0	95.0					2																	61719760		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y08614	CCDS33205.1	2p15	2014-02-19	2014-02-19		ENSG00000082898	ENSG00000082898		"""Exportins"""	12825	protein-coding gene	gene with protein product	"""chromosome region maintenance 1 homolog (yeast)"""	602559	"""exportin 1 (CRM1, yeast, homolog)"", ""exportin 1 (CRM1 homolog, yeast)"""			9205132, 9368044	Standard	XM_005264544		Approved	CRM1, emb	uc002sbj.3	O14980	OTTHUMG00000152316	ENST00000401558.2:c.1508C>G	2.37:g.61719760G>C	ENSP00000384863:p.Ser503Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433	Missense_Mutation	SNP	pfam_CRM1_C_dom,pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.S503C	ENST00000401558.2	37	c.1508	CCDS33205.1	2	.	.	.	.	.	.	.	.	.	.	G	31	5.099437	0.94197	.	.	ENSG00000082898	ENST00000401558;ENST00000404992;ENST00000406957	T;T;T	0.69685	-0.42;-0.42;-0.42	5.99	5.99	0.97316	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.86606	0.5973	M	0.91406	3.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.986;1.0	D	0.87391	0.2363	10	0.54805	T	0.06	-8.441	20.4777	0.99188	0.0:0.0:1.0:0.0	.	150;503	B3KWD0;O14980	.;XPO1_HUMAN	C	503	ENSP00000384863:S503C;ENSP00000385942:S503C;ENSP00000385559:S503C	ENSP00000384863:S503C	S	-	2	0	XPO1	61573264	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.798000	0.99111	2.840000	0.97914	0.655000	0.94253	TCC	XPO1	-	superfamily_ARM-type_fold	ENSG00000082898		0.358	XPO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO1	HGNC	protein_coding	OTTHUMT00000325872.3	76	0.00	0	G	NM_003400		61719760	61719760	-1	no_errors	ENST00000401558	ensembl	human	known	69_37n	missense	65	25.29	22	SNP	1.000	C
XPO1	7514	genome.wustl.edu	37	2	61720141	61720141	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:61720141C>G	ENST00000401558.2	-	13	2020	c.1293G>C	c.(1291-1293)ttG>ttC	p.L431F	XPO1_ENST00000404992.2_Missense_Mutation_p.L431F|XPO1_ENST00000406957.1_Missense_Mutation_p.L431F	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1	431	Interaction with RANBP3.|Interaction with Ran and nuclear export complex formation.|Necessary for HTLV-1 Rex-mediated mRNA export.				gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein export from nucleus (GO:0006611)|protein localization to nucleus (GO:0034504)|regulation of centrosome duplication (GO:0010824)|regulation of protein catabolic process (GO:0042176)|regulation of protein export from nucleus (GO:0046825)|response to drug (GO:0042493)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleocytoplasmic transporter activity (GO:0005487)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			TCTCTACAACCAATACTTCCT	0.328			Mis		CLL																																	dbGAP	-'	Dom	yes		2	2p15	7514	"""exportin 1 (CRM1 homolog, yeast)"""		L	0													121.0	122.0	122.0					2																	61720141		2202	4299	6501	-	-	-	SO:0001583	missense	0			Y08614	CCDS33205.1	2p15	2014-02-19	2014-02-19		ENSG00000082898	ENSG00000082898		"""Exportins"""	12825	protein-coding gene	gene with protein product	"""chromosome region maintenance 1 homolog (yeast)"""	602559	"""exportin 1 (CRM1, yeast, homolog)"", ""exportin 1 (CRM1 homolog, yeast)"""			9205132, 9368044	Standard	XM_005264544		Approved	CRM1, emb	uc002sbj.3	O14980	OTTHUMG00000152316	ENST00000401558.2:c.1293G>C	2.37:g.61720141C>G	ENSP00000384863:p.Leu431Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433	Missense_Mutation	SNP	pfam_CRM1_C_dom,pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.L431F	ENST00000401558.2	37	c.1293	CCDS33205.1	2	.	.	.	.	.	.	.	.	.	.	C	20.4	3.981209	0.74474	.	.	ENSG00000082898	ENST00000401558;ENST00000404992;ENST00000406957	T;T;T	0.67523	-0.27;-0.27;-0.27	5.46	4.53	0.55603	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73489	0.3593	M	0.84156	2.68	0.58432	D	0.999991	D	0.63046	0.992	P	0.54210	0.745	T	0.73186	-0.4062	10	0.35671	T	0.21	-9.1313	6.2473	0.20825	0.2103:0.6346:0.0:0.1551	.	431	O14980	XPO1_HUMAN	F	431	ENSP00000384863:L431F;ENSP00000385942:L431F;ENSP00000385559:L431F	ENSP00000384863:L431F	L	-	3	2	XPO1	61573645	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	0.996000	0.29719	1.330000	0.45394	0.491000	0.48974	TTG	XPO1	-	superfamily_ARM-type_fold	ENSG00000082898		0.328	XPO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO1	HGNC	protein_coding	OTTHUMT00000325872.3	153	0.00	0	C	NM_003400		61720141	61720141	-1	no_errors	ENST00000401558	ensembl	human	known	69_37n	missense	94	45.35	78	SNP	1.000	G
XPO1	7514	genome.wustl.edu	37	2	61760993	61760993	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:61760993G>A	ENST00000401558.2	-	2	767	c.40C>T	c.(40-42)Cgt>Tgt	p.R14C	XPO1_ENST00000481214.1_5'UTR|XPO1_ENST00000404992.2_Missense_Mutation_p.R14C|XPO1_ENST00000406957.1_Missense_Mutation_p.R14C	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1	14	Necessary for HTLV-1 Rex-mediated mRNA export.				gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein export from nucleus (GO:0006611)|protein localization to nucleus (GO:0034504)|regulation of centrosome duplication (GO:0010824)|regulation of protein catabolic process (GO:0042176)|regulation of protein export from nucleus (GO:0046825)|response to drug (GO:0042493)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleocytoplasmic transporter activity (GO:0005487)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			AGCAGCTGACGAGCTGCATGG	0.368			Mis		CLL																																	dbGAP	-'	Dom	yes		2	2p15	7514	"""exportin 1 (CRM1 homolog, yeast)"""		L	0													91.0	84.0	87.0					2																	61760993		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y08614	CCDS33205.1	2p15	2014-02-19	2014-02-19		ENSG00000082898	ENSG00000082898		"""Exportins"""	12825	protein-coding gene	gene with protein product	"""chromosome region maintenance 1 homolog (yeast)"""	602559	"""exportin 1 (CRM1, yeast, homolog)"", ""exportin 1 (CRM1 homolog, yeast)"""			9205132, 9368044	Standard	XM_005264544		Approved	CRM1, emb	uc002sbj.3	O14980	OTTHUMG00000152316	ENST00000401558.2:c.40C>T	2.37:g.61760993G>A	ENSP00000384863:p.Arg14Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433	Missense_Mutation	SNP	pfam_CRM1_C_dom,pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.R14C	ENST00000401558.2	37	c.40	CCDS33205.1	2	.	.	.	.	.	.	.	.	.	.	G	17.81	3.480844	0.63849	.	.	ENSG00000082898	ENST00000401558;ENST00000404992;ENST00000406957;ENST00000451765;ENST00000443240;ENST00000420673;ENST00000422552;ENST00000457483;ENST00000449444;ENST00000436018	.	.	.	5.2	5.2	0.72013	.	0.128364	0.56097	D	0.000034	T	0.39835	0.1093	L	0.29908	0.895	0.58432	D	0.999999	P	0.42871	0.792	B	0.29942	0.109	T	0.50668	-0.8801	9	0.87932	D	0	-11.5414	18.9206	0.92523	0.0:0.0:1.0:0.0	.	14	O14980	XPO1_HUMAN	C	14	.	ENSP00000384863:R14C	R	-	1	0	XPO1	61614497	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.346000	0.79347	2.694000	0.91930	0.650000	0.86243	CGT	XPO1	-	NULL	ENSG00000082898		0.368	XPO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO1	HGNC	protein_coding	OTTHUMT00000325872.3	123	0.00	0	G	NM_003400		61760993	61760993	-1	no_errors	ENST00000401558	ensembl	human	known	69_37n	missense	96	21.95	27	SNP	1.000	A
XPO5	57510	genome.wustl.edu	37	6	43534915	43534915	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:43534915G>A	ENST00000265351.7	-	7	1035	c.825C>T	c.(823-825)gtC>gtT	p.V275V		NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	275					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			CTTTTCTGCTGACTGCAATGA	0.413																																						dbGAP											0													56.0	53.0	54.0					6																	43534915		1928	4126	6054	-	-	-	SO:0001819	synonymous_variant	0			AB033117	CCDS47430.1	6p21.1	2011-04-13			ENSG00000124571	ENSG00000124571		"""Exportins"""	17675	protein-coding gene	gene with protein product		607845				11777942, 12426392	Standard	NM_020750		Approved	KIAA1291	uc003ovp.3	Q9HAV4	OTTHUMG00000014742	ENST00000265351.7:c.825C>T	6.37:g.43534915G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Silent	SNP	pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold,smart_Importin-beta_N	p.V275	ENST00000265351.7	37	c.825	CCDS47430.1	6																																																																																			XPO5	-	superfamily_ARM-type_fold	ENSG00000124571		0.413	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO5	HGNC	protein_coding	OTTHUMT00000040657.2	65	0.00	0	G	NM_020750		43534915	43534915	-1	no_errors	ENST00000265351	ensembl	human	known	69_37n	silent	40	47.37	36	SNP	1.000	A
XPR1	9213	genome.wustl.edu	37	1	180853188	180853188	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:180853188G>A	ENST00000367590.4	+	15	2275	c.2077G>A	c.(2077-2079)Gaa>Aaa	p.E693K	XPR1_ENST00000367589.3_Missense_Mutation_p.E628K	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	693					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)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						CACAGATGATGAAGCTAACAC	0.408																																						dbGAP											0													217.0	193.0	201.0					1																	180853188		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"""xenotropic and polytropic retrovirus receptor"""			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.2077G>A	1.37:g.180853188G>A	ENSP00000356562:p.Glu693Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Missense_Mutation	SNP	pfam_EXS_C,pfam_SPX_N	p.E693K	ENST00000367590.4	37	c.2077	CCDS1340.1	1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.892442	0.72524	.	.	ENSG00000143324	ENST00000367590;ENST00000367589	T	0.46451	0.87	5.61	5.61	0.85477	.	0.049230	0.85682	D	0.000000	T	0.38746	0.1052	L	0.44542	1.39	0.43403	D	0.995537	P;P	0.46395	0.481;0.877	B;B	0.37731	0.158;0.257	T	0.39860	-0.9593	10	0.66056	D	0.02	-11.194	19.237	0.93864	0.0:0.0:1.0:0.0	.	628;693	Q9UBH6-2;Q9UBH6	.;XPR1_HUMAN	K	693;628	ENSP00000356562:E693K	ENSP00000356561:E628K	E	+	1	0	XPR1	179119811	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.976000	0.93442	2.640000	0.89533	0.655000	0.94253	GAA	XPR1	-	NULL	ENSG00000143324		0.408	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPR1	HGNC	protein_coding	OTTHUMT00000084996.2	210	0.00	0	G	NM_004736		180853188	180853188	+1	no_errors	ENST00000367590	ensembl	human	known	69_37n	missense	266	10.74	32	SNP	1.000	A
XRCC1	7515	genome.wustl.edu	37	19	44047576	44047576	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:44047576G>A	ENST00000262887.5	-	17	2417	c.1870C>T	c.(1870-1872)Cac>Tac	p.H624Y	XRCC1_ENST00000543982.1_Missense_Mutation_p.H593Y			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	624	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.				base-excision repair (GO:0006284)|DNA repair (GO:0006281)|hippocampus development (GO:0021766)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to organic substance (GO:0010033)|single strand break repair (GO:0000012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				TAGAGCTGGTGAGGAAGTAAC	0.517								Other BER factors																														dbGAP											0													127.0	112.0	117.0					19																	44047576		2203	4300	6503	-	-	-	SO:0001583	missense	0			M36089	CCDS12624.1	19q13.2	2014-09-17				ENSG00000073050			12828	protein-coding gene	gene with protein product		194360		RCC		2247054	Standard	NM_006297		Approved		uc002owt.2	P18887		ENST00000262887.5:c.1870C>T	19.37:g.44047576G>A	ENSP00000262887:p.His624Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IBS4|Q9HCB1	Missense_Mutation	SNP	pfam_Xrcc1_N,pfam_BRCT_dom,superfamily_Galactose-bd-like,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.H624Y	ENST00000262887.5	37	c.1870	CCDS12624.1	19	.	.	.	.	.	.	.	.	.	.	G	15.87	2.960466	0.53400	.	.	ENSG00000073050	ENST00000458471;ENST00000262887;ENST00000543982	T;T	0.10763	2.84;2.84	4.58	2.46	0.29980	BRCT (2);	0.059480	0.64402	D	0.000002	T	0.14485	0.0350	L	0.29908	0.895	0.41155	D	0.986051	D;B	0.89917	1.0;0.431	D;B	0.79108	0.992;0.047	T	0.13575	-1.0504	10	0.06891	T	0.86	-23.4397	8.8993	0.35484	0.1899:0.0:0.8101:0.0	.	593;624	F5H8D7;P18887	.;XRCC1_HUMAN	Y	638;624;593	ENSP00000262887:H624Y;ENSP00000443671:H593Y	ENSP00000262887:H624Y	H	-	1	0	XRCC1	48739416	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.613000	0.46351	1.315000	0.45114	0.549000	0.68633	CAC	XRCC1	-	superfamily_BRCT_dom,pfscan_BRCT_dom	ENSG00000073050		0.517	XRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XRCC1	HGNC	protein_coding	OTTHUMT00000463194.1	60	0.00	0	G	NM_006297		44047576	44047576	-1	no_errors	ENST00000262887	ensembl	human	known	69_37n	missense	47	25.40	16	SNP	0.996	A
XRCC4	7518	genome.wustl.edu	37	5	82554396	82554396	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:82554396G>A	ENST00000511817.1	+	7	873	c.793G>A	c.(793-795)Gat>Aat	p.D265N	XRCC4_ENST00000396027.4_Missense_Mutation_p.D265N|XRCC4_ENST00000509268.1_3'UTR|XRCC4_ENST00000338635.6_Missense_Mutation_p.D265N|XRCC4_ENST00000282268.3_Missense_Mutation_p.D265N			Q13426	XRCC4_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 4	265					cellular response to lithium ion (GO:0071285)|central nervous system development (GO:0007417)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|immunoglobulin V(D)J recombination (GO:0033152)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of ligase activity (GO:0051351)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytosol (GO:0005829)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(2)|skin(3)	17		Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034)		OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28)		TGATGTCACTGATATTGCACC	0.368								Non-homologous end-joining																														dbGAP											0													127.0	128.0	128.0					5																	82554396		2203	4299	6502	-	-	-	SO:0001583	missense	0			AB017445	CCDS4058.1, CCDS4059.1	5q14.2	2008-02-05			ENSG00000152422	ENSG00000152422			12831	protein-coding gene	gene with protein product	"""X-ray repair, complementing defective, repair in Chinese hamster"", ""DNA repair protein XRCC4"""	194363				1697445, 7665175	Standard	NM_022406		Approved		uc003kib.3	Q13426	OTTHUMG00000131319	ENST00000511817.1:c.793G>A	5.37:g.82554396G>A	ENSP00000421491:p.Asp265Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3X4|Q9BS72|Q9UP94	Missense_Mutation	SNP	pfam_DNA_ds_break_repair_XRCC4,superfamily_XRCC4_N	p.D265N	ENST00000511817.1	37	c.793	CCDS4059.1	5	.	.	.	.	.	.	.	.	.	.	G	22.3	4.271408	0.80469	.	.	ENSG00000152422	ENST00000282268;ENST00000338635;ENST00000396027;ENST00000511817	T;T;T;T	0.23950	1.88;1.88;1.88;1.88	4.99	4.99	0.66335	.	0.057648	0.64402	D	0.000003	T	0.50257	0.1605	M	0.70275	2.135	0.51767	D	0.999932	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.995;0.998;0.995	T	0.48864	-0.8997	10	0.49607	T	0.09	-28.7214	15.5463	0.76104	0.0:0.0:1.0:0.0	.	265;265;265	Q13426-2;Q13426;Q13426-3	.;XRCC4_HUMAN;.	N	265	ENSP00000282268:D265N;ENSP00000342011:D265N;ENSP00000379344:D265N;ENSP00000421491:D265N	ENSP00000282268:D265N	D	+	1	0	XRCC4	82590152	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	3.826000	0.55738	2.482000	0.83794	0.650000	0.86243	GAT	XRCC4	-	pfam_DNA_ds_break_repair_XRCC4	ENSG00000152422		0.368	XRCC4-003	NOVEL	alternative_5_UTR|basic|CCDS	protein_coding	XRCC4	HGNC	protein_coding	OTTHUMT00000369624.1	117	0.00	0	G	NM_022550		82554396	82554396	+1	no_errors	ENST00000338635	ensembl	human	known	69_37n	missense	77	20.62	20	SNP	0.998	A
XYLT2	64132	genome.wustl.edu	37	17	48434547	48434547	+	Silent	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:48434547G>T	ENST00000017003.2	+	9	1924	c.1875G>T	c.(1873-1875)ctG>ctT	p.L625L	XYLT2_ENST00000507602.1_Silent_p.L625L	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	625					chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)	p.L625L(1)		endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					AGATGTGGCTGATGCCCCAAG	0.632																																						dbGAP											1	Substitution - coding silent(1)	urinary_tract(1)											32.0	34.0	33.0					17																	48434547		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ277442	CCDS11563.1	17q21.33	2013-02-25			ENSG00000015532	ENSG00000015532	2.4.2.26		15517	protein-coding gene	gene with protein product	"""protein xylosyltransferase 2"""	608125				11099377	Standard	NM_022167		Approved	XT-II, PXYLT2	uc002iqo.3	Q9H1B5	OTTHUMG00000162057	ENST00000017003.2:c.1875G>T	17.37:g.48434547G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UY41|Q86V00	Silent	SNP	pfam_XylT_met,pfam_Glyco_trans_14	p.L625	ENST00000017003.2	37	c.1875	CCDS11563.1	17																																																																																			XYLT2	-	pfam_XylT_met	ENSG00000015532		0.632	XYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XYLT2	HGNC	protein_coding	OTTHUMT00000367046.1	29	0.00	0	G	NM_022167		48434547	48434547	+1	no_errors	ENST00000017003	ensembl	human	known	69_37n	silent	20	42.86	15	SNP	1.000	T
YLPM1	56252	genome.wustl.edu	37	14	75245273	75245273	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:75245273G>T	ENST00000552421.1	+	2	1121	c.997G>T	c.(997-999)Gaa>Taa	p.E333*	YLPM1_ENST00000325680.7_Nonsense_Mutation_p.E333*|YLPM1_ENST00000238571.3_Nonsense_Mutation_p.E333*			P49750	YLPM1_HUMAN	YLP motif containing 1	333					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GGTAAAAGAAGAAGTTACAGT	0.498																																						dbGAP											0													72.0	72.0	72.0					14																	75245273		1891	4112	6003	-	-	-	SO:0001587	stop_gained	0			AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.997G>T	14.37:g.75245273G>T	ENSP00000447921:p.Glu333*	Somatic		WXS	Illumina GAIIx	Phase_IV	P49752|Q96I64|Q9P1V7	Nonsense_Mutation	SNP	superfamily_FH2_actin-bd	p.E333*	ENST00000552421.1	37	c.997		14	.	.	.	.	.	.	.	.	.	.	G	37	6.406588	0.97542	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000238571;ENST00000423680	.	.	.	5.48	5.48	0.80851	.	0.090066	0.47852	D	0.000202	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-3.8132	17.5314	0.87816	0.0:0.0:1.0:0.0	.	.	.	.	X	333;333;333;46	.	ENSP00000238571:E333X	E	+	1	0	YLPM1	74315026	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	5.889000	0.69766	2.567000	0.86603	0.591000	0.81541	GAA	YLPM1	-	NULL	ENSG00000119596		0.498	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	YLPM1	HGNC	protein_coding	OTTHUMT00000404450.1	89	0.00	0	G	NM_019589		75245273	75245273	+1	no_errors	ENST00000325680	ensembl	human	known	69_37n	nonsense	48	43.53	37	SNP	1.000	T
YLPM1	56252	genome.wustl.edu	37	14	75264722	75264722	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:75264722G>A	ENST00000325680.7	+	5	2846	c.2722G>A	c.(2722-2724)Gag>Aag	p.E908K	YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Missense_Mutation_p.E713K	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	713	Arg-rich.				regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CTCTCAACAAGAGCCACCTAA	0.448																																						dbGAP											0													32.0	32.0	32.0					14																	75264722		1851	4090	5941	-	-	-	SO:0001583	missense	0			AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000325680.7:c.2722G>A	14.37:g.75264722G>A	ENSP00000324463:p.Glu908Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	superfamily_FH2_actin-bd	p.E908K	ENST00000325680.7	37	c.2722	CCDS45135.1	14	.	.	.	.	.	.	.	.	.	.	G	16.08	3.020186	0.54576	.	.	ENSG00000119596	ENST00000325680;ENST00000238571;ENST00000423680	.	.	.	5.66	5.66	0.87406	.	0.164283	0.43260	D	0.000598	T	0.42017	0.1184	L	0.36672	1.1	0.38855	D	0.956365	P	0.37330	0.59	B	0.36378	0.223	T	0.34378	-0.9831	9	0.27785	T	0.31	-12.7229	12.6066	0.56527	0.0765:0.0:0.9235:0.0	.	908	P49750-4	.	K	908;713;621	.	ENSP00000238571:E713K	E	+	1	0	YLPM1	74334475	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.651000	0.54431	2.829000	0.97493	0.643000	0.83706	GAG	YLPM1	-	NULL	ENSG00000119596		0.448	YLPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YLPM1	HGNC	protein_coding	OTTHUMT00000404451.1	46	0.00	0	G	NM_019589		75264722	75264722	+1	no_errors	ENST00000325680	ensembl	human	known	69_37n	missense	31	20.51	8	SNP	1.000	A
YRDC	79693	genome.wustl.edu	37	1	38272574	38272574	+	Silent	SNP	G	G	A	rs540380205		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:38272574G>A	ENST00000373044.2	-	3	583	c.579C>T	c.(577-579)ctC>ctT	p.L193L	C1orf122_ENST00000373043.1_5'Flank|C1orf122_ENST00000468084.1_5'Flank|C1orf122_ENST00000446260.2_5'Flank|C1orf122_ENST00000373042.4_5'Flank	NM_024640.3	NP_078916.3	Q86U90	YRDC_HUMAN	yrdC N(6)-threonylcarbamoyltransferase domain containing	193	YrdC-like. {ECO:0000255|PROSITE- ProRule:PRU00518}.				negative regulation of transport (GO:0051051)	membrane (GO:0016020)|mitochondrion (GO:0005739)	double-stranded RNA binding (GO:0003725)			lung(2)|upper_aerodigestive_tract(1)	3	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TGGCACTAGTGAGAGCAAGCG	0.502																																						dbGAP											0													93.0	89.0	91.0					1																	38272574		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS30675.1	1p34.3	2013-09-12	2013-09-12		ENSG00000196449	ENSG00000196449			28905	protein-coding gene	gene with protein product	"""ischemia/reperfusion inducible protein"""	612276	"""yrdC domain containing (E.coli)"", ""yrdC domain containing (E. coli)"""			12730717	Standard	NM_024640		Approved	FLJ23476, IRIP, SUA5	uc001cca.1	Q86U90	OTTHUMG00000004318	ENST00000373044.2:c.579C>T	1.37:g.38272574G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W4X8|Q6NVW3|Q7L4E4|Q7Z2I4|Q9H5F8	Silent	SNP	pfam_YrdC-like_dom,superfamily_DHBP_synth_RibB-like_a/b_dom,pfscan_YrdC-like_dom,tigrfam_YrdC-like_dom	p.L193	ENST00000373044.2	37	c.579	CCDS30675.1	1																																																																																			YRDC	-	pfam_YrdC-like_dom,superfamily_DHBP_synth_RibB-like_a/b_dom,pfscan_YrdC-like_dom,tigrfam_YrdC-like_dom	ENSG00000196449		0.502	YRDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YRDC	HGNC	protein_coding	OTTHUMT00000012470.1	64	0.00	0	G	NM_024640		38272574	38272574	-1	no_errors	ENST00000373044	ensembl	human	known	69_37n	silent	47	21.31	13	SNP	0.997	A
YTHDF3	253943	genome.wustl.edu	37	8	64099494	64099494	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:64099494C>T	ENST00000539294.1	+	4	1238	c.922C>T	c.(922-924)Caa>Taa	p.Q308*	YTHDF3_ENST00000517371.1_Intron|YTHDF3_ENST00000542911.2_Nonsense_Mutation_p.Q119*|YTHDF3_ENST00000521674.1_3'UTR	NM_001277817.1|NM_001277818.1|NM_152758.4	NP_001264746.1|NP_001264747.1|NP_689971.4	Q7Z739	YTHD3_HUMAN	YTH domain family, member 3	309							N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)					Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			GCCATTAATTCAACCACCACC	0.522																																						dbGAP											0													48.0	58.0	55.0					8																	64099494		2063	4223	6286	-	-	-	SO:0001587	stop_gained	0			BC052970	CCDS75747.1, CCDS75748.1, CCDS75749.1	8q12.3	2013-06-07	2004-11-16		ENSG00000185728	ENSG00000185728			26465	protein-coding gene	gene with protein product			"""YTH domain family 3"""			12477932	Standard	NM_152758		Approved	FLJ31657	uc003xuz.4	Q7Z739	OTTHUMG00000164369	ENST00000539294.1:c.922C>T	8.37:g.64099494C>T	ENSP00000473496:p.Gln308*	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXL4|Q63Z37|Q659A3	RNA	SNP	-	NULL	ENST00000539294.1	37	NULL		8																																																																																			YTHDF3	-	-	ENSG00000185728		0.522	YTHDF3-201	KNOWN	basic|appris_principal	protein_coding	YTHDF3	HGNC	protein_coding		132	0.00	0	C	NM_152758		64099494	64099494	+1	no_errors	ENST00000339066	ensembl	human	known	69_37n	rna	180	14.62	31	SNP	1.000	T
YWHAZ	7534	genome.wustl.edu	37	8	101932962	101932962	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:101932962G>C	ENST00000395957.2	-	7	1038	c.697C>G	c.(697-699)Caa>Gaa	p.Q233E	YWHAZ_ENST00000395958.2_Missense_Mutation_p.Q233E|YWHAZ_ENST00000395953.2_Missense_Mutation_p.Q233E|YWHAZ_ENST00000419477.2_Missense_Mutation_p.Q233E|YWHAZ_ENST00000395956.3_Missense_Mutation_p.Q233E|YWHAZ_ENST00000521309.1_Missense_Mutation_p.Q113E|YWHAZ_ENST00000353245.3_Missense_Mutation_p.Q233E|YWHAZ_ENST00000457309.1_Missense_Mutation_p.Q233E|YWHAZ_ENST00000522819.1_Missense_Mutation_p.Q113E|YWHAZ_ENST00000395951.3_Missense_Mutation_p.Q233E|YWHAZ_ENST00000395948.2_Missense_Mutation_p.Q156E|YWHAZ_ENST00000522542.1_Missense_Mutation_p.Q158E			P63104	1433Z_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta	233					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|gene expression (GO:0010467)|histamine secretion by mast cell (GO:0002553)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|platelet activation (GO:0030168)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting to mitochondrion (GO:0006626)|response to drug (GO:0042493)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mast cell granule (GO:0042629)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|transcription factor binding (GO:0008134)			large_intestine(1)|lung(2)	3	all_cancers(14;7.43e-06)|all_epithelial(15;2.77e-08)|Lung NSC(17;6.08e-05)|all_lung(17;0.000197)		Epithelial(11;2.79e-11)|all cancers(13;5.45e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.75e-05)			TCGTCTCCTTGGGTATCCGAT	0.458																																						dbGAP											0													61.0	69.0	67.0					8																	101932962		2202	4300	6502	-	-	-	SO:0001583	missense	0			U28964	CCDS6290.1	8q22.3	2013-12-03	2013-12-03		ENSG00000164924	ENSG00000164924			12855	protein-coding gene	gene with protein product	"""14-3-3 zeta"", ""14-3-3 delta"""	601288	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, delta polypeptide"", ""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide"""	YWHAD		8617504, 7890696	Standard	NM_003406		Approved	KCIP-1, 14-3-3-zeta	uc010mbr.2	P63104	OTTHUMG00000134291	ENST00000395957.2:c.697C>G	8.37:g.101932962G>C	ENSP00000379287:p.Gln233Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1N0|B7Z465|P29213|P29312|Q32P43|Q5XJ08|Q6GPI2|Q6IN74|Q6NUR9|Q6P3U9|Q86V33	Missense_Mutation	SNP	pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3	p.Q233E	ENST00000395957.2	37	c.697	CCDS6290.1	8	.	.	.	.	.	.	.	.	.	.	G	15.69	2.907065	0.52333	.	.	ENSG00000164924	ENST00000395957;ENST00000457309;ENST00000395958;ENST00000395956;ENST00000353245;ENST00000522542;ENST00000521309;ENST00000517797;ENST00000522819;ENST00000395953;ENST00000395948;ENST00000395951;ENST00000419477;ENST00000521607	T;T;T;T;T;T;T;T;T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11	4.6	4.6	0.57074	14-3-3 domain (2);	0.000000	0.64402	D	0.000006	T	0.40694	0.1127	L	0.43923	1.385	0.58432	D	0.999999	B	0.12013	0.005	B	0.24269	0.052	T	0.33343	-0.9872	10	0.52906	T	0.07	.	17.8279	0.88671	0.0:0.0:1.0:0.0	.	233	P63104	1433Z_HUMAN	E	233;233;233;233;233;158;113;156;113;233;156;233;233;241	ENSP00000379287:Q233E;ENSP00000398599:Q233E;ENSP00000379288:Q233E;ENSP00000379286:Q233E;ENSP00000309503:Q233E;ENSP00000430072:Q158E;ENSP00000429623:Q113E;ENSP00000428775:Q113E;ENSP00000379283:Q233E;ENSP00000379278:Q156E;ENSP00000379281:Q233E;ENSP00000395114:Q233E;ENSP00000430058:Q241E	ENSP00000309503:Q233E	Q	-	1	0	YWHAZ	102002138	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.389000	0.97243	2.278000	0.76064	0.580000	0.79431	CAA	YWHAZ	-	pfam_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3	ENSG00000164924		0.458	YWHAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YWHAZ	HGNC	protein_coding	OTTHUMT00000259017.2	48	0.00	0	G	NM_145690		101932962	101932962	-1	no_errors	ENST00000353245	ensembl	human	known	69_37n	missense	40	14.89	7	SNP	1.000	C
ZAN	7455	genome.wustl.edu	37	7	100352904	100352904	+	RNA	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:100352904G>A	ENST00000348028.3	+	0	3345				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CTTCGTGCAAGAGCCCCAGGC	0.567																																						dbGAP											0													135.0	140.0	139.0					7																	100352904		1942	4127	6069	-	-	-			0			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100352904G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Silent	SNP	pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,pfscan_EG-like_dom,pfscan_MAM_dom	p.K1060	ENST00000348028.3	37	c.3180		7																																																																																			ZAN	-	pfam_TIL_dom,superfamily_TIL_dom	ENSG00000146839		0.567	ZAN-006	KNOWN	basic	polymorphic_pseudogene	ZAN	HGNC	polymorphic_pseudogene	OTTHUMT00000347214.1	63	0.00	0	G	NM_003386		100352904	100352904	+1	no_errors	ENST00000546292	ensembl	human	known	69_37n	silent	50	41.86	36	SNP	0.862	A
ZAR1L	646799	genome.wustl.edu	37	13	32884832	32884832	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr13:32884832C>G	ENST00000533490.2	-	4	1109	c.691G>C	c.(691-693)Gat>Cat	p.D231H	ZAR1L_ENST00000345108.6_Missense_Mutation_p.D231H			A6NP61	ZAR1L_HUMAN	zygote arrest 1-like	231						cytoplasm (GO:0005737)				NS(1)|kidney(1)	2						GTCTTACAATCTTTACAGTGG	0.413											OREG0022356	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													158.0	143.0	147.0					13																	32884832		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS45023.1	13q13.1	2014-02-20			ENSG00000189167	ENSG00000189167			37116	protein-coding gene	gene with protein product	"""zinc finger, 3CxxC-type 7"""					18442940	Standard	NM_001136571		Approved	Z3CXXC7	uc010abc.1	A6NP61	OTTHUMG00000016694	ENST00000533490.2:c.691G>C	13.37:g.32884832C>G	ENSP00000437289:p.Asp231His	Somatic	835	WXS	Illumina GAIIx	Phase_IV	B2RV03|B7ZBU2	Missense_Mutation	SNP	NULL	p.D231H	ENST00000533490.2	37	c.691	CCDS45023.1	13	.	.	.	.	.	.	.	.	.	.	c	15.99	2.996201	0.54147	.	.	ENSG00000189167	ENST00000345108	T	0.22743	1.94	4.62	3.78	0.43462	.	0.132877	0.50627	D	0.000106	T	0.41811	0.1175	M	0.63428	1.95	0.38461	D	0.947227	D	0.89917	1.0	D	0.73708	0.981	T	0.47394	-0.9121	10	0.87932	D	0	-6.4493	12.9578	0.58441	0.0:0.9216:0.0:0.0784	.	231	A6NP61	ZAR1L_HUMAN	H	231	ENSP00000344616:D231H	ENSP00000344616:D231H	D	-	1	0	ZAR1L	31782832	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	2.475000	0.45162	1.194000	0.43101	0.645000	0.84053	GAT	ZAR1L	-	NULL	ENSG00000189167		0.413	ZAR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZAR1L	HGNC	protein_coding	OTTHUMT00000044403.5	112	0.00	0	C			32884832	32884832	-1	no_errors	ENST00000345108	ensembl	human	known	69_37n	missense	69	53.06	78	SNP	1.000	G
ZBBX	79740	genome.wustl.edu	37	3	166960399	166960399	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:166960399C>T	ENST00000392766.2	-	20	2510	c.2170G>A	c.(2170-2172)Gaa>Aaa	p.E724K	ZBBX_ENST00000392767.2_Missense_Mutation_p.E724K|ZBBX_ENST00000455345.2_Missense_Mutation_p.E763K|ZBBX_ENST00000392764.1_Missense_Mutation_p.E695K|ZBBX_ENST00000307529.5_Missense_Mutation_p.E763K	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	724						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						GGGAACTCTTCTGAGGTTAAG	0.373																																						dbGAP											0													90.0	87.0	88.0					3																	166960399		1822	4080	5902	-	-	-	SO:0001583	missense	0			AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.2170G>A	3.37:g.166960399C>T	ENSP00000376519:p.Glu724Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	pfam_Znf_B-box	p.E763K	ENST00000392766.2	37	c.2287	CCDS3199.2	3	.	.	.	.	.	.	.	.	.	.	C	17.27	3.347033	0.61183	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71	5.62	5.62	0.85841	.	0.091830	0.43260	D	0.000589	T	0.62660	0.2446	L	0.47716	1.5	0.35873	D	0.828365	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.70414	-0.4878	10	0.72032	D	0.01	-15.3513	15.1507	0.72696	0.0:1.0:0.0:0.0	.	763;724	A8MT70-2;A8MT70	.;ZBBX_HUMAN	K	724;724;763;763;695	ENSP00000376519:E724K;ENSP00000376520:E724K;ENSP00000390232:E763K;ENSP00000305065:E763K;ENSP00000376517:E695K	ENSP00000305065:E763K	E	-	1	0	ZBBX	168443093	1.000000	0.71417	1.000000	0.80357	0.117000	0.20001	3.994000	0.56994	2.640000	0.89533	0.591000	0.81541	GAA	ZBBX	-	NULL	ENSG00000169064		0.373	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZBBX	HGNC	protein_coding	OTTHUMT00000257657.3	99	0.00	0	C	NM_024687		166960399	166960399	-1	no_errors	ENST00000307529	ensembl	human	known	69_37n	missense	105	13.22	16	SNP	1.000	T
ZBED4	9889	genome.wustl.edu	37	22	50277793	50277793	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:50277793G>A	ENST00000216268.5	+	2	960	c.483G>A	c.(481-483)gtG>gtA	p.V161V		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	161						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		TGAGGCACGTGAGGCGCGCAC	0.552																																						dbGAP											0													78.0	69.0	72.0					22																	50277793		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"""Zinc fingers, BED-type"""	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.483G>A	22.37:g.50277793G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RZH1|Q1ECU0|Q9UGG8	Silent	SNP	pfam_Znf_BED_prd,pfam_HATC,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd	p.V161	ENST00000216268.5	37	c.483	CCDS33677.1	22																																																																																			ZBED4	-	pfam_Znf_BED_prd,smart_Znf_BED_prd,pfscan_Znf_BED_prd	ENSG00000100426		0.552	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBED4	HGNC	protein_coding	OTTHUMT00000317408.2	38	0.00	0	G	NM_014838		50277793	50277793	+1	no_errors	ENST00000216268	ensembl	human	known	69_37n	silent	47	26.56	17	SNP	0.992	A
ZBED4	9889	genome.wustl.edu	37	22	50277907	50277907	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:50277907C>T	ENST00000216268.5	+	2	1074	c.597C>T	c.(595-597)ctC>ctT	p.L199L		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	199						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		CGGGTGACCTCAGCACCATCC	0.562																																						dbGAP											0													66.0	52.0	57.0					22																	50277907		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"""Zinc fingers, BED-type"""	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.597C>T	22.37:g.50277907C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RZH1|Q1ECU0|Q9UGG8	Silent	SNP	pfam_Znf_BED_prd,pfam_HATC,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd	p.L199	ENST00000216268.5	37	c.597	CCDS33677.1	22																																																																																			ZBED4	-	NULL	ENSG00000100426		0.562	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBED4	HGNC	protein_coding	OTTHUMT00000317408.2	24	0.00	0	C	NM_014838		50277907	50277907	+1	no_errors	ENST00000216268	ensembl	human	known	69_37n	silent	28	36.36	16	SNP	0.020	T
ZBED4	9889	genome.wustl.edu	37	22	50278050	50278050	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:50278050G>C	ENST00000216268.5	+	2	1217	c.740G>C	c.(739-741)aGa>aCa	p.R247T		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	247						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		AAGTGCGGCAGAGAAGAAGCC	0.527																																						dbGAP											0													67.0	72.0	70.0					22																	50278050		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"""Zinc fingers, BED-type"""	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.740G>C	22.37:g.50278050G>C	ENSP00000216268:p.Arg247Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RZH1|Q1ECU0|Q9UGG8	Missense_Mutation	SNP	pfam_Znf_BED_prd,pfam_HATC,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd	p.R247T	ENST00000216268.5	37	c.740	CCDS33677.1	22	.	.	.	.	.	.	.	.	.	.	G	8.524	0.869507	0.17322	.	.	ENSG00000100426	ENST00000216268	T	0.48836	0.8	5.31	2.02	0.26589	.	0.376195	0.24828	N	0.035268	T	0.27063	0.0663	N	0.19112	0.55	0.09310	N	1	B	0.32245	0.361	B	0.27608	0.081	T	0.15867	-1.0422	10	0.72032	D	0.01	-5.8966	6.0689	0.19877	0.5278:0.0:0.4722:0.0	.	247	O75132	ZBED4_HUMAN	T	247	ENSP00000216268:R247T	ENSP00000216268:R247T	R	+	2	0	ZBED4	48664054	1.000000	0.71417	0.001000	0.08648	0.122000	0.20287	2.728000	0.47319	0.327000	0.23409	0.650000	0.86243	AGA	ZBED4	-	NULL	ENSG00000100426		0.527	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBED4	HGNC	protein_coding	OTTHUMT00000317408.2	26	0.00	0	G	NM_014838		50278050	50278050	+1	no_errors	ENST00000216268	ensembl	human	known	69_37n	missense	26	36.59	15	SNP	0.175	C
ZBED5	58486	genome.wustl.edu	37	11	10874686	10874686	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:10874686G>A	ENST00000432999.2	-	3	2305	c.1807C>T	c.(1807-1809)Caa>Taa	p.Q603*	ZBED5_ENST00000413761.2_Nonsense_Mutation_p.Q603*|ZBED5_ENST00000525350.1_Intron	NM_001143667.1|NM_021211.3	NP_001137139.1|NP_067034.2	Q49AG3	ZBED5_HUMAN	zinc finger, BED-type containing 5	603							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)	4						tgcttcacttgagaatcagat	0.383																																						dbGAP											0													73.0	66.0	68.0					11																	10874686		692	1591	2283	-	-	-	SO:0001587	stop_gained	0			AF205601		11p15.3	2013-05-03			ENSG00000236287	ENSG00000236287		"""Zinc fingers, BED-type"""	30803	protein-coding gene	gene with protein product		615251				10607616, 23533661	Standard	NM_021211		Approved	Buster1	uc009ygh.3	Q49AG3	OTTHUMG00000150341	ENST00000432999.2:c.1807C>T	11.37:g.10874686G>A	ENSP00000398106:p.Gln603*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCC1|Q05D82|Q86WW3|Q9NT24|Q9UBJ4	Nonsense_Mutation	SNP	superfamily_RNaseH-like_dom,pfscan_Znf_BED_prd	p.Q603*	ENST00000432999.2	37	c.1807		11	.	.	.	.	.	.	.	.	.	.	G	38	7.198990	0.98129	.	.	ENSG00000236287	ENST00000432999;ENST00000413761	.	.	.	4.0	4.0	0.46444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	11.9047	0.52703	0.0:0.0:1.0:0.0	.	.	.	.	X	603	.	ENSP00000415939:Q603X	Q	-	1	0	ZBED5	10831262	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.508000	0.53378	2.519000	0.84933	0.585000	0.79938	CAA	ZBED5	-	superfamily_RNaseH-like_dom	ENSG00000236287		0.383	ZBED5-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	ZBED5	HGNC	protein_coding	OTTHUMT00000317691.1	65	0.00	0	G	NM_021211		10874686	10874686	-1	no_errors	ENST00000413761	ensembl	human	putative	69_37n	nonsense	55	25.68	19	SNP	1.000	A
ZBTB1	22890	genome.wustl.edu	37	14	64988426	64988426	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:64988426G>A	ENST00000554015.1	+	4	635	c.204G>A	c.(202-204)atG>atA	p.M68I	RP11-973N13.4_ENST00000554918.1_RNA|ZBTB1_ENST00000394712.2_Missense_Mutation_p.M68I|ZBTB1_ENST00000358738.3_Missense_Mutation_p.M68I			Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	68	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				B cell differentiation (GO:0030183)|innate immune response (GO:0045087)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of pro-T cell differentiation (GO:2000176)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell mediated immunity (GO:0002711)|protein homooligomerization (GO:0051260)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		TCAGCAACATGAAAATTAGTG	0.373																																						dbGAP											0													109.0	103.0	105.0					14																	64988426		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023214	CCDS32097.1, CCDS45126.1	14q23.3	2013-01-09			ENSG00000126804	ENSG00000126804		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	20259	protein-coding gene	gene with protein product						10231032	Standard	NM_014950		Approved	KIAA0997, ZNF909	uc010aqg.3	Q9Y2K1		ENST00000554015.1:c.204G>A	14.37:g.64988426G>A	ENSP00000451000:p.Met68Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6S8|Q86SW8	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.M68I	ENST00000554015.1	37	c.204	CCDS45126.1	14	.	.	.	.	.	.	.	.	.	.	G	12.84	2.057314	0.36277	.	.	ENSG00000126804	ENST00000553583;ENST00000556965;ENST00000554015;ENST00000358738;ENST00000394712	T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22	6.16	6.16	0.99307	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.067380	0.64402	D	0.000005	T	0.55226	0.1907	N	0.25957	0.775	0.51767	D	0.999938	B;B	0.23650	0.089;0.057	B;B	0.25614	0.062;0.032	T	0.50136	-0.8863	10	0.39692	T	0.17	-20.1932	13.9788	0.64291	0.0686:0.0:0.9314:0.0	.	68;68	Q9Y2K1-2;Q9Y2K1	.;ZBTB1_HUMAN	I	68	ENSP00000451584:M68I;ENSP00000450689:M68I;ENSP00000451000:M68I;ENSP00000351587:M68I;ENSP00000378201:M68I	ENSP00000351587:M68I	M	+	3	0	ZBTB1	64058179	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.493000	0.73658	2.937000	0.99478	0.650000	0.86243	ATG	ZBTB1	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000126804		0.373	ZBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB1	HGNC	protein_coding	OTTHUMT00000411912.1	89	0.00	0	G			64988426	64988426	+1	no_errors	ENST00000394712	ensembl	human	known	69_37n	missense	74	22.68	22	SNP	1.000	A
ZBTB17	7709	genome.wustl.edu	37	1	16269183	16269183	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:16269183C>G	ENST00000375743.4	-	14	2111	c.1879G>C	c.(1879-1881)Gac>Cac	p.D627H	ZBTB17_ENST00000537142.1_Missense_Mutation_p.D545H|ZBTB17_ENST00000375733.2_Missense_Mutation_p.D627H	NM_003443.2	NP_003434.2	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	627					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|ectoderm development (GO:0007398)|endoplasmic reticulum unfolded protein response (GO:0030968)|gastrulation with mouth forming second (GO:0001702)|negative regulation of cell cycle (GO:0045786)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		CGCAGGTTGTCTACCCGGTTG	0.607																																						dbGAP											0													82.0	65.0	71.0					1																	16269183		2203	4300	6503	-	-	-	SO:0001583	missense	0			U20647	CCDS165.1, CCDS55576.1, CCDS72712.1	1p36.13	2013-01-08	2004-07-16	2004-07-16	ENSG00000116809	ENSG00000116809		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12936	protein-coding gene	gene with protein product		604084	"""zinc finger protein 151 (pHZ-67)"", ""zinc finger protein 60"""	ZNF151, ZNF60			Standard	NM_003443		Approved	MIZ1, pHZ-67	uc001axl.4	Q13105	OTTHUMG00000009377	ENST00000375743.4:c.1879G>C	1.37:g.16269183C>G	ENSP00000364895:p.Asp627His	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV07|B4DXB4|B7ZLQ9|F5H411|Q15932|Q5JYB2|Q9NUC9	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.D627H	ENST00000375743.4	37	c.1879	CCDS165.1	1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	19.42|19.42|19.42	3.824656|3.824656|3.824656	0.71143|0.71143|0.71143	.|.|.	.|.|.	ENSG00000116809|ENSG00000116809|ENSG00000116809	ENST00000375743;ENST00000375733;ENST00000444654;ENST00000537142;ENST00000375729|ENST00000440560|ENST00000444358	T;T;T|.|.	0.07567|.|.	3.18;3.18;3.18|.|.	5.52|5.52|5.52	4.57|4.57|4.57	0.56435|0.56435|0.56435	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|.	0.52025|0.52025|.	0.1709|0.1709|.	L|L|L	0.27053|0.27053|0.27053	0.805|0.805|0.805	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D;D|.|.	0.89917|.|.	1.0;1.0;0.998|.|.	D;D;D|.|.	0.91635|.|.	0.999;0.992;0.936|.|.	T|T|.	0.44787|0.44787|.	-0.9305|-0.9305|.	10|5|.	0.72032|.|.	D|.|.	0.01|.|.	.|.|.	13.4511|13.4511|13.4511	0.61172|0.61172|0.61172	0.2818:0.7181:0.0:0.0|0.2818:0.7181:0.0:0.0|0.2818:0.7181:0.0:0.0	.|.|.	627;545;627|.|.	Q13105-2;F5H411;Q13105|.|.	.;.;ZBT17_HUMAN|.|.	H|T|Y	627;627;546;545;183|26|183	ENSP00000364895:D627H;ENSP00000364885:D627H;ENSP00000438529:D545H|.|.	ENSP00000364881:D183H|.|.	D|R|X	-|-|-	1|2|3	0|0|2	ZBTB17|ZBTB17|ZBTB17	16141770|16141770|16141770	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.992000|0.992000|0.992000	0.81027|0.81027|0.81027	4.708000|4.708000|4.708000	0.61859|0.61859|0.61859	2.579000|2.579000|2.579000	0.87056|0.87056|0.87056	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	GAC|AGA|TAG	ZBTB17	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000116809		0.607	ZBTB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB17	HGNC	protein_coding	OTTHUMT00000025998.1	28	0.00	0	C	NM_003443		16269183	16269183	-1	no_errors	ENST00000375733	ensembl	human	known	69_37n	missense	30	25.00	10	SNP	1.000	G
ZBTB17	7709	genome.wustl.edu	37	1	16271073	16271073	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:16271073C>T	ENST00000375743.4	-	9	1325	c.1093G>A	c.(1093-1095)Gag>Aag	p.E365K	ZBTB17_ENST00000537142.1_Missense_Mutation_p.E283K|ZBTB17_ENST00000448462.2_Missense_Mutation_p.E302K|ZBTB17_ENST00000375733.2_Missense_Mutation_p.E365K|ZBTB17_ENST00000479282.1_5'Flank	NM_003443.2	NP_003434.2	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	365					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|ectoderm development (GO:0007398)|endoplasmic reticulum unfolded protein response (GO:0030968)|gastrulation with mouth forming second (GO:0001702)|negative regulation of cell cycle (GO:0045786)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		CCGCACTCCTCGCAGCCGTAG	0.697																																						dbGAP											0													19.0	22.0	21.0					1																	16271073		2202	4299	6501	-	-	-	SO:0001583	missense	0			U20647	CCDS165.1, CCDS55576.1, CCDS72712.1	1p36.13	2013-01-08	2004-07-16	2004-07-16	ENSG00000116809	ENSG00000116809		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12936	protein-coding gene	gene with protein product		604084	"""zinc finger protein 151 (pHZ-67)"", ""zinc finger protein 60"""	ZNF151, ZNF60			Standard	NM_003443		Approved	MIZ1, pHZ-67	uc001axl.4	Q13105	OTTHUMG00000009377	ENST00000375743.4:c.1093G>A	1.37:g.16271073C>T	ENSP00000364895:p.Glu365Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV07|B4DXB4|B7ZLQ9|F5H411|Q15932|Q5JYB2|Q9NUC9	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.E365K	ENST00000375743.4	37	c.1093	CCDS165.1	1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.589059	0.46110	.	.	ENSG00000116809	ENST00000375743;ENST00000375733;ENST00000444654;ENST00000537142;ENST00000448462	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	5.46	3.52	0.40303	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.235104	0.37715	N	0.001967	T	0.51092	0.1654	L	0.39467	1.215	0.42374	D	0.992461	D;D;D;D;B	0.69078	0.992;0.984;0.997;0.997;0.426	P;P;P;P;B	0.58928	0.796;0.512;0.848;0.775;0.058	T	0.45644	-0.9247	10	0.31617	T	0.26	.	11.1242	0.48308	0.0:0.8016:0.1284:0.07	.	321;302;365;283;365	B4DYU5;E7EPQ4;Q13105-2;F5H411;Q13105	.;.;.;.;ZBT17_HUMAN	K	365;365;284;283;302	ENSP00000364895:E365K;ENSP00000364885:E365K;ENSP00000438529:E283K;ENSP00000391002:E302K	ENSP00000364885:E365K	E	-	1	0	ZBTB17	16143660	0.419000	0.25449	0.997000	0.53966	0.003000	0.03518	0.429000	0.21412	1.304000	0.44892	-0.136000	0.14681	GAG	ZBTB17	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000116809		0.697	ZBTB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB17	HGNC	protein_coding	OTTHUMT00000025998.1	24	0.00	0	C	NM_003443		16271073	16271073	-1	no_errors	ENST00000375733	ensembl	human	known	69_37n	missense	23	23.33	7	SNP	1.000	T
ZBTB32	27033	genome.wustl.edu	37	19	36207599	36207599	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:36207599C>G	ENST00000392197.2	+	7	1727	c.1409C>G	c.(1408-1410)tCg>tGg	p.S470W	ZBTB32_ENST00000262630.3_Missense_Mutation_p.S470W|KMT2B_ENST00000341701.1_5'Flank|KMT2B_ENST00000420124.1_5'Flank|KMT2B_ENST00000222270.7_5'Flank|KMT2B_ENST00000607650.1_RNA			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	470					DNA repair (GO:0006281)|hemopoiesis (GO:0030097)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cytokine production (GO:0001817)|T cell proliferation (GO:0042098)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TACTCCTCCTCGAGGCCGTCT	0.627											OREG0025433	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													94.0	86.0	89.0					19																	36207599		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF130255	CCDS12471.1	19q13.1	2013-01-08			ENSG00000011590	ENSG00000011590		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16763	protein-coding gene	gene with protein product	"""repressor of GATA"""	605859				10572087	Standard	XM_005258739		Approved	TZFP, FAZF, FAXF, Rog, ZNF538	uc002oay.3	Q9Y2Y4	OTTHUMG00000048118	ENST00000392197.2:c.1409C>G	19.37:g.36207599C>G	ENSP00000376035:p.Ser470Trp	Somatic	861	WXS	Illumina GAIIx	Phase_IV	Q8WVP2	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.S470W	ENST00000392197.2	37	c.1409	CCDS12471.1	19	.	.	.	.	.	.	.	.	.	.	C	13.50	2.254387	0.39896	.	.	ENSG00000011590	ENST00000262630;ENST00000392197	T;T	0.10477	2.87;2.87	4.09	3.0	0.34707	.	0.184816	0.27509	N	0.019058	T	0.06826	0.0174	N	0.24115	0.695	0.51482	D	0.999925	P	0.38922	0.651	B	0.33339	0.162	T	0.30851	-0.9964	10	0.72032	D	0.01	-2.4225	9.5739	0.39445	0.0:0.785:0.215:0.0	.	470	Q9Y2Y4	ZBT32_HUMAN	W	470	ENSP00000262630:S470W;ENSP00000376035:S470W	ENSP00000262630:S470W	S	+	2	0	ZBTB32	40899439	0.955000	0.32602	0.930000	0.37139	0.522000	0.34438	2.026000	0.41069	0.984000	0.38629	0.462000	0.41574	TCG	ZBTB32	-	NULL	ENSG00000011590		0.627	ZBTB32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB32	HGNC	protein_coding	OTTHUMT00000109491.3	38	0.00	0	C	NM_014383		36207599	36207599	+1	no_errors	ENST00000262630	ensembl	human	known	69_37n	missense	36	23.40	11	SNP	0.974	G
ZBTB41	360023	genome.wustl.edu	37	1	197128626	197128626	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:197128626G>A	ENST00000367405.4	-	10	2661	c.2593C>T	c.(2593-2595)Caa>Taa	p.Q865*	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	865					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						TTTGCAGGTTGAGGAGTAAGA	0.433																																						dbGAP											0													247.0	249.0	248.0					1																	197128626		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				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.2593C>T	1.37:g.197128626G>A	ENSP00000356375:p.Gln865*	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RUA8|Q6MZT8|Q6ZR25|Q7Z4T1|Q8IZ99	Nonsense_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.Q865*	ENST00000367405.4	37	c.2593	CCDS30960.1	1	.	.	.	.	.	.	.	.	.	.	G	38	6.674013	0.97751	.	.	ENSG00000177888	ENST00000367405	.	.	.	5.63	5.63	0.86233	.	0.169064	0.27109	N	0.020897	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	19.6732	0.95918	0.0:0.0:1.0:0.0	.	.	.	.	X	865	.	ENSP00000356375:Q865X	Q	-	1	0	ZBTB41	195395249	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	9.206000	0.95056	2.657000	0.90304	0.591000	0.81541	CAA	ZBTB41	-	NULL	ENSG00000177888		0.433	ZBTB41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB41	HGNC	protein_coding	OTTHUMT00000088249.2	198	0.00	0	G	NM_194314		197128626	197128626	-1	no_errors	ENST00000367405	ensembl	human	known	69_37n	nonsense	238	14.39	40	SNP	1.000	A
ZBTB43	23099	genome.wustl.edu	37	9	129595032	129595032	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:129595032G>C	ENST00000373464.4	+	3	508	c.244G>C	c.(244-246)Gag>Cag	p.E82Q	ZBTB43_ENST00000449886.1_Missense_Mutation_p.E82Q|ZBTB43_ENST00000373457.1_Missense_Mutation_p.E82Q	NM_014007.3	NP_054726.1	O43298	ZBT43_HUMAN	zinc finger and BTB domain containing 43	82	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				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(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						AAGAGTGTTTGAGAACATTCT	0.458																																						dbGAP											0													98.0	90.0	93.0					9																	129595032		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF049907	CCDS6867.1	9q33.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000169155	ENSG00000169155		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	17908	protein-coding gene	gene with protein product			"""zinc finger protein 297B"""	ZNF297B			Standard	NM_014007		Approved	KIAA0414, ZNF-X, FLJ22470, ZBTB22B	uc010mxf.3	O43298	OTTHUMG00000020693	ENST00000373464.4:c.244G>C	9.37:g.129595032G>C	ENSP00000362563:p.Glu82Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JU96	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.E82Q	ENST00000373464.4	37	c.244	CCDS6867.1	9	.	.	.	.	.	.	.	.	.	.	G	21.2	4.118598	0.77323	.	.	ENSG00000169155	ENST00000449886;ENST00000373464;ENST00000450858;ENST00000373457	T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38	5.75	5.75	0.90469	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.79695	0.4490	L	0.52823	1.66	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.75286	-0.3371	10	0.35671	T	0.21	.	20.3046	0.98621	0.0:0.0:1.0:0.0	.	82	O43298	ZBT43_HUMAN	Q	82	ENSP00000390344:E82Q;ENSP00000362563:E82Q;ENSP00000412145:E82Q;ENSP00000362556:E82Q	ENSP00000362556:E82Q	E	+	1	0	ZBTB43	128634853	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.779000	0.99018	2.878000	0.98634	0.650000	0.86243	GAG	ZBTB43	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000169155		0.458	ZBTB43-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZBTB43	HGNC	protein_coding	OTTHUMT00000054124.1	79	0.00	0	G	NM_001135776		129595032	129595032	+1	no_errors	ENST00000373457	ensembl	human	known	69_37n	missense	58	39.80	39	SNP	1.000	C
ZBTB45	84878	genome.wustl.edu	37	19	59028713	59028713	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:59028713G>A	ENST00000594051.1	-	2	808	c.328C>T	c.(328-330)Cgc>Tgc	p.R110C	ZBTB45_ENST00000600990.1_Missense_Mutation_p.R110C|ZBTB45_ENST00000354590.3_Missense_Mutation_p.R110C			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	110					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R110C(1)		breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		GTCTGTATGCGAAGCACTGAC	0.667											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(164;1383 2017 5233 27540 46677)	dbGAP											1	Substitution - Missense(1)	endometrium(1)											46.0	44.0	45.0					19																	59028713		2202	4297	6499	-	-	-	SO:0001583	missense	0			AK027392	CCDS12984.1	19q13.43	2013-10-10	2006-09-19	2006-09-19	ENSG00000119574	ENSG00000119574		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	23715	protein-coding gene	gene with protein product			"""zinc finger protein 499"""	ZNF499			Standard	NM_032792		Approved	FLJ14486	uc002qtd.3	Q96K62	OTTHUMG00000183545	ENST00000594051.1:c.328C>T	19.37:g.59028713G>A	ENSP00000469089:p.Arg110Cys	Somatic	1035	WXS	Illumina GAIIx	Phase_IV		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.R110C	ENST00000594051.1	37	c.328	CCDS12984.1	19	.	.	.	.	.	.	.	.	.	.	g	16.46	3.130769	0.56828	.	.	ENSG00000119574	ENST00000354590	T	0.68479	-0.33	3.69	3.69	0.42338	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.108147	0.38492	U	0.001661	T	0.70666	0.3250	L	0.29908	0.895	0.53005	D	0.999962	D	0.76494	0.999	D	0.68483	0.958	T	0.74910	-0.3503	10	0.87932	D	0	.	13.3084	0.60365	0.0:0.0:1.0:0.0	.	110	Q96K62	ZBT45_HUMAN	C	110	ENSP00000346603:R110C	ENSP00000346603:R110C	R	-	1	0	ZBTB45	63720525	1.000000	0.71417	0.992000	0.48379	0.133000	0.20885	9.451000	0.97610	1.797000	0.52628	0.313000	0.20887	CGC	ZBTB45	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	ENSG00000119574		0.667	ZBTB45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB45	HGNC	protein_coding	OTTHUMT00000467067.1	8	0.00	0	G	NM_032792		59028713	59028713	-1	no_errors	ENST00000354590	ensembl	human	known	69_37n	missense	7	36.36	4	SNP	1.000	A
ZBTB46	140685	genome.wustl.edu	37	20	62407185	62407185	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:62407185C>T	ENST00000245663.4	-	3	1218	c.1068G>A	c.(1066-1068)gaG>gaA	p.E356E	ZBTB46_ENST00000302995.2_Silent_p.E356E|ZBTB46_ENST00000395104.1_Silent_p.E356E	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	356					negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of dendritic cell differentiation (GO:2001200)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CGTCGTCCTTCTCTGGGGTGA	0.672																																						dbGAP											0													55.0	57.0	57.0					20																	62407185		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK131482	CCDS13538.1	20q13.33	2013-01-08	2006-09-19	2006-09-19	ENSG00000130584	ENSG00000130584		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16094	protein-coding gene	gene with protein product	"""BTB-ZF protein expressed in effector lymphocytes"""	614639	"""BTB (POZ) domain containing 4"""	ZNF340, BTBD4			Standard	NM_025224		Approved	FLJ13502, RINZF, BZEL	uc002ygv.2	Q86UZ6	OTTHUMG00000033001	ENST00000245663.4:c.1068G>A	20.37:g.62407185C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9	Silent	SNP	pfam_BTB_POZ,pfam_DUF3342,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E356	ENST00000245663.4	37	c.1068	CCDS13538.1	20																																																																																			ZBTB46	-	NULL	ENSG00000130584		0.672	ZBTB46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB46	HGNC	protein_coding	OTTHUMT00000080232.2	30	0.00	0	C	NM_025224		62407185	62407185	-1	no_errors	ENST00000245663	ensembl	human	known	69_37n	silent	50	23.08	15	SNP	1.000	T
ZBTB49	166793	genome.wustl.edu	37	4	4317653	4317653	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:4317653G>T	ENST00000337872.4	+	7	1698	c.1577G>T	c.(1576-1578)aGa>aTa	p.R526I	ZBTB49_ENST00000538529.1_Missense_Mutation_p.R9I|ZBTB49_ENST00000355834.3_Intron	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	526					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(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						GTAAAGCACAGAATTCGGCAC	0.488																																						dbGAP											0													80.0	85.0	83.0					4																	4317653		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK095878	CCDS3375.1	4p16.2	2013-01-08	2010-01-26	2010-01-26	ENSG00000168826	ENSG00000168826		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	19883	protein-coding gene	gene with protein product			"""zinc finger protein 509"""	ZNF509		12477932	Standard	NM_145291		Approved	FLJ38559	uc003ghu.3	Q6ZSB9	OTTHUMG00000090325	ENST00000337872.4:c.1577G>T	4.37:g.4317653G>T	ENSP00000338807:p.Arg526Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q59FJ4|Q5EBN0|Q8TB80	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.R526I	ENST00000337872.4	37	c.1577	CCDS3375.1	4	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937390	0.73557	.	.	ENSG00000168826	ENST00000337872;ENST00000538529	T;T	0.15603	2.41;2.41	5.56	4.72	0.59763	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.51477	D	0.000082	T	0.17959	0.0431	N	0.21097	0.63	0.47094	D	0.999313	P	0.42375	0.778	P	0.46299	0.511	T	0.02417	-1.1162	10	0.87932	D	0	.	14.2793	0.66200	0.0716:0.0:0.9284:0.0	.	526	Q6ZSB9	ZBT49_HUMAN	I	526;9	ENSP00000338807:R526I;ENSP00000445653:R9I	ENSP00000338807:R526I	R	+	2	0	ZBTB49	4368554	1.000000	0.71417	0.043000	0.18650	0.980000	0.70556	4.977000	0.63792	1.352000	0.45808	0.462000	0.41574	AGA	ZBTB49	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000168826		0.488	ZBTB49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB49	HGNC	protein_coding	OTTHUMT00000206688.3	73	0.00	0	G	NM_145291		4317653	4317653	+1	no_errors	ENST00000337872	ensembl	human	known	69_37n	missense	53	30.26	23	SNP	0.501	T
ZBTB5	9925	genome.wustl.edu	37	9	37441304	37441304	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:37441304C>G	ENST00000307750.4	-	2	1433	c.1245G>C	c.(1243-1245)aaG>aaC	p.K415N		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	415					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)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		TTCCTCTGCTCTTGTTAAGAA	0.398																																						dbGAP											0													66.0	73.0	71.0					9																	37441304		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002352	CCDS6610.1	9p13.1	2013-01-09			ENSG00000168795	ENSG00000168795		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	23836	protein-coding gene	gene with protein product						9205841	Standard	NM_014872		Approved	KIAA0354	uc003zzx.3	O15062	OTTHUMG00000019918	ENST00000307750.4:c.1245G>C	9.37:g.37441304C>G	ENSP00000307604:p.Lys415Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		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.K415N	ENST00000307750.4	37	c.1245	CCDS6610.1	9	.	.	.	.	.	.	.	.	.	.	C	10.31	1.314200	0.23908	.	.	ENSG00000168795	ENST00000307750	T	0.10860	2.83	5.45	3.63	0.41609	.	0.203578	0.44097	D	0.000488	T	0.06690	0.0171	N	0.24115	0.695	0.48632	D	0.999687	P	0.47409	0.895	B	0.40602	0.334	T	0.40098	-0.9581	10	0.36615	T	0.2	.	6.3011	0.21113	0.0:0.6164:0.0:0.3836	.	415	O15062	ZBTB5_HUMAN	N	415	ENSP00000307604:K415N	ENSP00000307604:K415N	K	-	3	2	ZBTB5	37431304	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.171000	0.31896	0.891000	0.36235	0.650000	0.86243	AAG	ZBTB5	-	NULL	ENSG00000168795		0.398	ZBTB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB5	HGNC	protein_coding	OTTHUMT00000052462.1	52	0.00	0	C	NM_014872		37441304	37441304	-1	no_errors	ENST00000307750	ensembl	human	known	69_37n	missense	56	16.42	11	SNP	1.000	G
ZBTB6	10773	genome.wustl.edu	37	9	125674315	125674315	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:125674315C>G	ENST00000373659.3	-	2	125	c.37G>C	c.(37-39)Gaa>Caa	p.E13Q		NM_006626.5	NP_006617.1	Q15916	ZBTB6_HUMAN	zinc finger and BTB domain containing 6	13					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(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	11						CCTTGCTGTTCAAACTGGAAA	0.368																																						dbGAP											0													84.0	91.0	89.0					9																	125674315		2203	4300	6503	-	-	-	SO:0001583	missense	0			X82018	CCDS6846.1	9q33.1-q33.3	2013-01-08	2006-04-10	2006-04-10	ENSG00000186130	ENSG00000186130		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16764	protein-coding gene	gene with protein product		605976	"""zinc finger protein 482"""	ZNF482		7958847	Standard	NM_006626		Approved	ZID	uc004bnh.4	Q15916	OTTHUMG00000020628	ENST00000373659.3:c.37G>C	9.37:g.125674315C>G	ENSP00000362763:p.Glu13Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8N6	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.E13Q	ENST00000373659.3	37	c.37	CCDS6846.1	9	.	.	.	.	.	.	.	.	.	.	C	17.16	3.317626	0.60524	.	.	ENSG00000186130	ENST00000373659	T	0.70869	-0.52	6.17	6.17	0.99709	BTB/POZ fold (2);	0.105268	0.64402	D	0.000006	T	0.68155	0.2970	L	0.39020	1.185	0.42829	D	0.994018	P	0.45348	0.856	B	0.43575	0.424	T	0.69658	-0.5086	10	0.54805	T	0.06	.	19.8676	0.96824	0.0:1.0:0.0:0.0	.	13	Q15916	ZBTB6_HUMAN	Q	13	ENSP00000362763:E13Q	ENSP00000362763:E13Q	E	-	1	0	ZBTB6	124714136	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.205000	0.42770	2.941000	0.99782	0.655000	0.94253	GAA	ZBTB6	-	superfamily_BTB/POZ_fold	ENSG00000186130		0.368	ZBTB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB6	HGNC	protein_coding	OTTHUMT00000053962.1	44	0.00	0	C	NM_006626		125674315	125674315	-1	no_errors	ENST00000373659	ensembl	human	known	69_37n	missense	36	43.75	28	SNP	1.000	G
ZBTB7A	51341	genome.wustl.edu	37	19	4054874	4054874	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:4054874C>T	ENST00000322357.4	-	2	635	c.357G>A	c.(355-357)gtG>gtA	p.V119V	ZBTB7A_ENST00000601588.1_Silent_p.V119V	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	119					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		ACACGTGGCTCACGGCGGGGA	0.687																																						dbGAP											0													23.0	21.0	21.0					19																	4054874		2191	4294	6485	-	-	-	SO:0001819	synonymous_variant	0			AF000561	CCDS12119.1	19p13.3	2013-01-08		2005-04-07		ENSG00000178951		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18078	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 7A, HIV-1 inducer of short transcripts binding protein"", ""lymphoma related factor"""	605878	"""zinc finger and BTB domain containing 7"""	ZBTB7		9973611, 9927193	Standard	NM_015898		Approved	FBI-1, LRF, DKFZp547O146, pokemon, ZNF857A	uc002lzi.3	O95365		ENST00000322357.4:c.357G>A	19.37:g.4054874C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D6W619|O00456|Q14D41|Q5XG86	Silent	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.V119	ENST00000322357.4	37	c.357	CCDS12119.1	19																																																																																			ZBTB7A	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	ENSG00000178951		0.687	ZBTB7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB7A	HGNC	protein_coding	OTTHUMT00000457621.2	22	0.00	0	C	NM_015898		4054874	4054874	-1	no_errors	ENST00000322357	ensembl	human	known	69_37n	silent	7	41.67	5	SNP	0.999	T
ZBTB8A	653121	genome.wustl.edu	37	1	33065914	33065914	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:33065914G>A	ENST00000373510.4	+	5	1449	c.1220G>A	c.(1219-1221)aGa>aAa	p.R407K	RP1-27O5.3_ENST00000480336.1_3'UTR|ZBTB8OS_ENST00000341885.5_Silent_p.I57I|ZBTB8A_ENST00000316459.4_3'UTR	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	407					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						GATGAGAATAGATCCTATGTG	0.418																																						dbGAP											0													148.0	134.0	139.0					1																	33065914		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF548353	CCDS30664.1	1p34.3	2013-01-08	2009-03-25	2009-03-25	ENSG00000160062	ENSG00000160062		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	24172	protein-coding gene	gene with protein product			"""zinc finger and BTB domain containing 8"""	ZBTB8		12477932	Standard	NM_001040441		Approved	BOZF1, FLJ90065, ZNF916A	uc001bvn.3	Q96BR9	OTTHUMG00000007855	ENST00000373510.4:c.1220G>A	1.37:g.33065914G>A	ENSP00000362609:p.Arg407Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IUL5|Q8IWR9|Q8N2Y5|Q96BX0	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,pfam_DUF3342,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.R407K	ENST00000373510.4	37	c.1220	CCDS30664.1	1	.	.	.	.	.	.	.	.	.	.	G	8.421	0.846437	0.16963	.	.	ENSG00000160062	ENST00000373510	T	0.11821	2.74	5.59	3.69	0.42338	.	0.272984	0.25161	U	0.032677	T	0.04952	0.0133	N	0.04508	-0.205	0.80722	D	1	B	0.06786	0.001	B	0.01281	0.0	T	0.22941	-1.0202	10	0.02654	T	1	-11.9865	9.5475	0.39291	0.279:0.0:0.721:0.0	.	407	Q96BR9	ZBT8A_HUMAN	K	407	ENSP00000362609:R407K	ENSP00000362609:R407K	R	+	2	0	ZBTB8A	32838501	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	3.473000	0.53122	1.503000	0.48686	0.655000	0.94253	AGA	ZBTB8A	-	NULL	ENSG00000160062		0.418	ZBTB8A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB8A	HGNC	protein_coding	OTTHUMT00000021665.2	106	0.93	1	G	NM_144621		33065914	33065914	+1	no_errors	ENST00000373510	ensembl	human	known	69_37n	missense	94	18.26	21	SNP	0.981	A
ZBTB7B	51043	genome.wustl.edu	37	1	154987160	154987160	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:154987160G>C	ENST00000368426.3	+	3	161	c.24G>C	c.(22-24)ctG>ctC	p.L8L	ZBTB7B_ENST00000417934.2_Silent_p.L42L|ZBTB7B_ENST00000487542.1_3'UTR|ZBTB7B_ENST00000292176.2_Silent_p.L8L|ZBTB7B_ENST00000535420.1_Silent_p.L8L	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	8					cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AGGATGACCTGATTGGGATTC	0.592																																						dbGAP											0													50.0	54.0	52.0					1																	154987160		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF007833	CCDS1081.1, CCDS58030.1	1q21.2	2013-01-08		2005-04-07	ENSG00000160685	ENSG00000160685		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18668	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 15"""	607646	"""zinc finger protein 67 homolog (mouse)"""	ZFP67		9370309, 7937772	Standard	NR_045515		Approved	ZBTB15, c-Krox, hcKrox, ZNF857B	uc010peq.3	O15156	OTTHUMG00000037414	ENST00000368426.3:c.24G>C	1.37:g.154987160G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	Silent	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.L42	ENST00000368426.3	37	c.126	CCDS1081.1	1																																																																																			ZBTB7B	-	superfamily_BTB/POZ_fold	ENSG00000160685		0.592	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB7B	HGNC	protein_coding	OTTHUMT00000091083.1	41	0.00	0	G	NM_015872		154987160	154987160	+1	no_errors	ENST00000417934	ensembl	human	known	69_37n	silent	25	45.65	21	SNP	0.999	C
ZC3H11A	9877	genome.wustl.edu	37	1	203798919	203798919	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:203798919G>C	ENST00000545588.1	+	6	4341	c.514G>C	c.(514-516)Gag>Cag	p.E172Q	ZC3H11A_ENST00000367214.1_Missense_Mutation_p.E172Q|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.E172Q|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.E172Q|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.E172Q	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	172					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TCAGTTTTCTGAGGAAGGTGA	0.383																																						dbGAP											0													36.0	34.0	34.0					1																	203798919		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"""Zinc fingers, CCCH-type domain containing"""	29093	protein-coding gene	gene with protein product		613513	"""zinc finger CCCH-type domain containing 11A"""	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.514G>C	1.37:g.203798919G>C	ENSP00000438527:p.Glu172Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Missense_Mutation	SNP	smart_Znf_CCCH	p.E172Q	ENST00000545588.1	37	c.514	CCDS30978.1	1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.433785	0.83776	.	.	ENSG00000058673	ENST00000453771;ENST00000367214;ENST00000537080;ENST00000367212;ENST00000332127;ENST00000545588;ENST00000367210	T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53	5.22	5.22	0.72569	.	0.051457	0.85682	D	0.000000	T	0.67230	0.2871	L	0.59436	1.845	0.58432	D	0.999998	D	0.76494	0.999	D	0.72338	0.977	T	0.62077	-0.6930	10	0.25751	T	0.34	-11.9441	16.0737	0.80955	0.0:0.0:1.0:0.0	.	172	O75152	ZC11A_HUMAN	Q	172;172;118;172;172;172;172	ENSP00000356183:E172Q;ENSP00000356181:E172Q;ENSP00000333253:E172Q;ENSP00000438527:E172Q;ENSP00000356179:E172Q	ENSP00000333253:E172Q	E	+	1	0	ZC3H11A	202065542	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	7.899000	0.87370	2.585000	0.87301	0.655000	0.94253	GAG	ZC3H11A	-	NULL	ENSG00000058673		0.383	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H11A	HGNC	protein_coding	OTTHUMT00000087471.3	53	0.00	0	G	NM_014827		203798919	203798919	+1	no_errors	ENST00000332127	ensembl	human	known	69_37n	missense	39	32.76	19	SNP	1.000	C
ZC3H11A	9877	genome.wustl.edu	37	1	203818934	203818934	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:203818934G>A	ENST00000545588.1	+	14	5546	c.1719G>A	c.(1717-1719)agG>agA	p.R573R	ZC3H11A_ENST00000367214.1_Silent_p.R573R|ZC3H11A_ENST00000367210.1_Silent_p.R573R|ZC3H11A_ENST00000367212.3_Silent_p.R573R|ZC3H11A_ENST00000332127.4_Silent_p.R573R	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	573					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			AGCAGGAGAGGGAAAAATCAG	0.498																																						dbGAP											0													127.0	119.0	122.0					1																	203818934		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"""Zinc fingers, CCCH-type domain containing"""	29093	protein-coding gene	gene with protein product		613513	"""zinc finger CCCH-type domain containing 11A"""	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.1719G>A	1.37:g.203818934G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Silent	SNP	smart_Znf_CCCH	p.R573	ENST00000545588.1	37	c.1719	CCDS30978.1	1																																																																																			ZC3H11A	-	NULL	ENSG00000058673		0.498	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H11A	HGNC	protein_coding	OTTHUMT00000087471.3	57	0.00	0	G	NM_014827		203818934	203818934	+1	no_errors	ENST00000332127	ensembl	human	known	69_37n	silent	53	42.39	39	SNP	0.426	A
ZC3H12B	340554	genome.wustl.edu	37	X	64708808	64708808	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:64708808G>C	ENST00000338957.4	+	1	194	c.127G>C	c.(127-129)Gag>Cag	p.E43Q	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.E32Q	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	43							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						GATGAGCTCTGAGAGTGACCC	0.502																																						dbGAP											0													54.0	56.0	55.0					X																	64708808		2127	4222	6349	-	-	-	SO:0001583	missense	0			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.127G>C	X.37:g.64708808G>C	ENSP00000340839:p.Glu43Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTQ3|E9PAJ6|Q5H9C0	Missense_Mutation	SNP	pfam_RNase_Zc3h12	p.E43Q	ENST00000338957.4	37	c.127	CCDS48131.2	X	.	.	.	.	.	.	.	.	.	.	G	18.38	3.612381	0.66672	.	.	ENSG00000102053	ENST00000338957;ENST00000423889;ENST00000218172	T;T	0.27402	1.67;1.72	5.26	4.4	0.53042	.	0.270425	0.40640	N	0.001049	T	0.24005	0.0581	L	0.39898	1.24	0.36666	D	0.878247	P	0.35433	0.501	B	0.30495	0.116	T	0.21793	-1.0235	10	0.52906	T	0.07	-29.6683	11.468	0.50249	0.0892:0.0:0.9108:0.0	.	32	Q5HYM0	ZC12B_HUMAN	Q	43;32;32	ENSP00000340839:E43Q;ENSP00000408077:E32Q	ENSP00000218172:E32Q	E	+	1	0	ZC3H12B	64625533	1.000000	0.71417	0.998000	0.56505	0.864000	0.49448	6.828000	0.75308	1.189000	0.43028	0.506000	0.49869	GAG	ZC3H12B	-	NULL	ENSG00000102053		0.502	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H12B	HGNC	protein_coding	OTTHUMT00000378734.2	49	0.00	0	G	XM_293334		64708808	64708808	+1	no_errors	ENST00000338957	ensembl	human	known	69_37n	missense	50	20.63	13	SNP	1.000	C
ZC3H12B	340554	genome.wustl.edu	37	X	64722249	64722249	+	Silent	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:64722249C>A	ENST00000338957.4	+	5	1738	c.1671C>A	c.(1669-1671)atC>atA	p.I557I	ZC3H12B_ENST00000423889.3_Silent_p.I546I	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	557							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						AACTGAACATCAACAGCATGC	0.483																																						dbGAP											0													43.0	42.0	42.0					X																	64722249		1931	4121	6052	-	-	-	SO:0001819	synonymous_variant	0			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.1671C>A	X.37:g.64722249C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTQ3|E9PAJ6|Q5H9C0	Silent	SNP	pfam_RNase_Zc3h12	p.I557	ENST00000338957.4	37	c.1671	CCDS48131.2	X																																																																																			ZC3H12B	-	NULL	ENSG00000102053		0.483	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H12B	HGNC	protein_coding	OTTHUMT00000378734.2	37	0.00	0	C	XM_293334		64722249	64722249	+1	no_errors	ENST00000338957	ensembl	human	known	69_37n	silent	26	25.71	9	SNP	1.000	A
ZC3H12C	85463	genome.wustl.edu	37	11	110034055	110034055	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:110034055G>A	ENST00000278590.3	+	5	1257	c.1206G>A	c.(1204-1206)ctG>ctA	p.L402L	ZC3H12C_ENST00000528673.1_Silent_p.L403L|ZC3H12C_ENST00000453089.2_Silent_p.L371L	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	402							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		ATAATTTTCTGAGGAAGAAAC	0.403																																						dbGAP											0													51.0	49.0	49.0					11																	110034055		1848	4089	5937	-	-	-	SO:0001819	synonymous_variant	0				CCDS44727.1	11q22.3	2012-07-05			ENSG00000149289	ENSG00000149289		"""Zinc fingers, CCCH-type domain containing"""	29362	protein-coding gene	gene with protein product	"""MCP induced protein 3"""	615001				11214970, 18178554	Standard	NM_033390		Approved	KIAA1726, MCPIP3	uc009yxw.3	Q9C0D7	OTTHUMG00000166572	ENST00000278590.3:c.1206G>A	11.37:g.110034055G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DI65|B4DR47	Silent	SNP	pfam_RNase_Zc3h12	p.L402	ENST00000278590.3	37	c.1206	CCDS44727.1	11																																																																																			ZC3H12C	-	NULL	ENSG00000149289		0.403	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	ZC3H12C	HGNC	protein_coding	OTTHUMT00000390491.1	114	0.00	0	G	NM_033390		110034055	110034055	+1	no_errors	ENST00000278590	ensembl	human	known	69_37n	silent	61	29.07	25	SNP	0.990	A
ZC3H12C	85463	genome.wustl.edu	37	11	110036325	110036325	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:110036325G>A	ENST00000278590.3	+	6	2566	c.2515G>A	c.(2515-2517)Gaa>Aaa	p.E839K	ZC3H12C_ENST00000528673.1_Missense_Mutation_p.E840K|ZC3H12C_ENST00000453089.2_Missense_Mutation_p.E808K	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	839							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		AGACAACCGAGAAAAGATTTA	0.527																																						dbGAP											0													31.0	32.0	32.0					11																	110036325		1884	4116	6000	-	-	-	SO:0001583	missense	0				CCDS44727.1	11q22.3	2012-07-05			ENSG00000149289	ENSG00000149289		"""Zinc fingers, CCCH-type domain containing"""	29362	protein-coding gene	gene with protein product	"""MCP induced protein 3"""	615001				11214970, 18178554	Standard	NM_033390		Approved	KIAA1726, MCPIP3	uc009yxw.3	Q9C0D7	OTTHUMG00000166572	ENST00000278590.3:c.2515G>A	11.37:g.110036325G>A	ENSP00000278590:p.Glu839Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DI65|B4DR47	Missense_Mutation	SNP	pfam_RNase_Zc3h12	p.E839K	ENST00000278590.3	37	c.2515	CCDS44727.1	11	.	.	.	.	.	.	.	.	.	.	G	13.94	2.386927	0.42308	.	.	ENSG00000149289	ENST00000278590;ENST00000528673;ENST00000453089	T;T;T	0.32515	1.45;1.45;1.46	5.88	5.88	0.94601	.	0.052563	0.85682	D	0.000000	T	0.46464	0.1394	L	0.54323	1.7	0.43678	D	0.996116	D;D;D	0.60575	0.988;0.988;0.988	P;P;P	0.54759	0.76;0.76;0.76	T	0.10776	-1.0615	10	0.35671	T	0.21	-28.7901	20.2441	0.98394	0.0:0.0:1.0:0.0	.	840;839;839	B4DR47;B4DI65;Q9C0D7	.;.;ZC12C_HUMAN	K	839;840;808	ENSP00000278590:E839K;ENSP00000431821:E840K;ENSP00000413094:E808K	ENSP00000278590:E839K	E	+	1	0	ZC3H12C	109541535	1.000000	0.71417	0.945000	0.38365	0.043000	0.13939	6.585000	0.74062	2.774000	0.95407	0.655000	0.94253	GAA	ZC3H12C	-	NULL	ENSG00000149289		0.527	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	ZC3H12C	HGNC	protein_coding	OTTHUMT00000390491.1	34	0.00	0	G	NM_033390		110036325	110036325	+1	no_errors	ENST00000278590	ensembl	human	known	69_37n	missense	34	26.09	12	SNP	1.000	A
ZC3H6	376940	genome.wustl.edu	37	2	113067621	113067621	+	Missense_Mutation	SNP	G	G	C	rs565562237		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:113067621G>C	ENST00000409871.1	+	4	897	c.496G>C	c.(496-498)Gat>Cat	p.D166H	ZC3H6_ENST00000343936.4_Missense_Mutation_p.D166H	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	166							metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						AACAGAGGAAGATTTTGCCAA	0.363																																						dbGAP											0													78.0	74.0	75.0					2																	113067621		1877	4109	5986	-	-	-	SO:0001583	missense	0			AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"""Zinc fingers, CCCH-type domain containing"""	24762	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 6"""	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.496G>C	2.37:g.113067621G>C	ENSP00000386764:p.Asp166His	Somatic		WXS	Illumina GAIIx	Phase_IV	A9JR71|Q6ZW96	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.D166H	ENST00000409871.1	37	c.496	CCDS46393.1	2	.	.	.	.	.	.	.	.	.	.	G	28.5	4.927592	0.92389	.	.	ENSG00000188177	ENST00000409871;ENST00000343936;ENST00000542974	T;T	0.24538	1.85;1.85	5.86	5.86	0.93980	.	0.149362	0.40818	N	0.001010	T	0.55986	0.1955	M	0.77103	2.36	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.57318	-0.7832	10	0.87932	D	0	-21.1775	20.1828	0.98210	0.0:0.0:1.0:0.0	.	166	P61129	ZC3H6_HUMAN	H	166;166;143	ENSP00000386764:D166H;ENSP00000340298:D166H	ENSP00000340298:D166H	D	+	1	0	ZC3H6	112784092	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.514000	0.60482	2.767000	0.95098	0.561000	0.74099	GAT	ZC3H6	-	NULL	ENSG00000188177		0.363	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H6	HGNC	protein_coding	OTTHUMT00000330551.1	85	0.00	0	G	NM_198581		113067621	113067621	+1	no_errors	ENST00000343936	ensembl	human	known	69_37n	missense	71	15.29	13	SNP	1.000	C
ZC3H7A	29066	genome.wustl.edu	37	16	11846602	11846602	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:11846602C>T	ENST00000396516.2	-	21	2846	c.2649G>A	c.(2647-2649)gaG>gaA	p.E883E	ZC3H7A_ENST00000575984.1_Silent_p.E79E|ZC3H7A_ENST00000355758.4_Silent_p.E883E			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	883						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						GGAAAACCTTCTCTTTGTGCT	0.483																																						dbGAP											0													171.0	131.0	145.0					16																	11846602		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			AF161540	CCDS10550.1	16p13-p12	2013-01-11	2005-06-02	2005-06-08	ENSG00000122299	ENSG00000122299		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30959	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 7"", ""zinc finger CCCH-type containing 7"""	ZC3HDC7, ZC3H7		11042152	Standard	NM_014153		Approved	HSPC055, FLJ20318	uc002dbl.3	Q8IWR0	OTTHUMG00000129825	ENST00000396516.2:c.2649G>A	16.37:g.11846602C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DUG5|Q9NPE9	Silent	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.E883	ENST00000396516.2	37	c.2649	CCDS10550.1	16																																																																																			ZC3H7A	-	NULL	ENSG00000122299		0.483	ZC3H7A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZC3H7A	HGNC	protein_coding	OTTHUMT00000437066.1	103	0.00	0	C	NM_014153		11846602	11846602	-1	no_errors	ENST00000355758	ensembl	human	known	69_37n	silent	82	21.90	23	SNP	1.000	T
ZC3H7B	23264	genome.wustl.edu	37	22	41752409	41752409	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:41752409G>A	ENST00000352645.4	+	21	2703	c.2446G>A	c.(2446-2448)Gaa>Aaa	p.E816K	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.E816K	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	832					viral process (GO:0016032)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						AAAGCCTGGAGAAGGGACCCC	0.612																																						dbGAP											0													140.0	132.0	135.0					22																	41752409		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30869	protein-coding gene	gene with protein product						10470851, 11230166	Standard	NM_017590		Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.2446G>A	22.37:g.41752409G>A	ENSP00000345793:p.Glu816Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Missense_Mutation	SNP	pfam_Znf_CCCH,pfam_TPR-1,smart_TPR_repeat,smart_Znf_CCCH,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E816K	ENST00000352645.4	37	c.2446	CCDS14013.1	22	.	.	.	.	.	.	.	.	.	.	G	20.1	3.932026	0.73442	.	.	ENSG00000100403	ENST00000352645;ENST00000351589	T;T	0.12039	2.72;2.72	5.05	4.03	0.46877	.	0.159230	0.56097	D	0.000039	T	0.10208	0.0250	N	0.20986	0.625	0.43673	D	0.996102	B	0.25955	0.138	B	0.31245	0.126	T	0.12243	-1.0555	10	0.41790	T	0.15	-10.671	9.6394	0.39831	0.1567:0.0:0.8433:0.0	.	816	Q9UGR2-2	.	K	816	ENSP00000345793:E816K;ENSP00000263243:E816K	ENSP00000263243:E816K	E	+	1	0	ZC3H7B	40082355	1.000000	0.71417	0.996000	0.52242	0.964000	0.63967	5.714000	0.68422	2.529000	0.85273	0.655000	0.94253	GAA	ZC3H7B	-	NULL	ENSG00000100403		0.612	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H7B	HGNC	protein_coding	OTTHUMT00000320696.1	45	0.00	0	G	NM_017590		41752409	41752409	+1	no_errors	ENST00000351589	ensembl	human	known	69_37n	missense	54	28.95	22	SNP	1.000	A
ZCCHC14	23174	genome.wustl.edu	37	16	87466736	87466736	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:87466736C>G	ENST00000268616.4	-	3	572	c.355G>C	c.(355-357)Gag>Cag	p.E119Q		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	119							nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		CATCTTACCTCAAAGGAACAT	0.383																																						dbGAP											0													305.0	292.0	297.0					16																	87466736		2198	4300	6498	-	-	-	SO:0001583	missense	0			AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"""Zinc fingers, CCHC domain containing"", ""Sterile alpha motif (SAM) domain containing"""	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.355G>C	16.37:g.87466736C>G	ENSP00000268616:p.Glu119Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DUN1|O60324|Q3MJD8|Q9UFP0	Missense_Mutation	SNP	pfam_SAM_type1,pfam_Znf_CCHC,superfamily_Phox,superfamily_SAM/pointed,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.E119Q	ENST00000268616.4	37	c.355	CCDS10961.1	16	.	.	.	.	.	.	.	.	.	.	C	14.19	2.462031	0.43736	.	.	ENSG00000140948	ENST00000268616	T	0.69435	-0.4	5.09	5.09	0.68999	Phox homologous domain (2);	0.059217	0.64402	D	0.000004	T	0.62332	0.2419	L	0.54323	1.7	0.41681	D	0.98929	B	0.30824	0.296	B	0.26202	0.067	T	0.65911	-0.6053	10	0.62326	D	0.03	-32.3956	15.7875	0.78319	0.0:1.0:0.0:0.0	.	119	Q8WYQ9	ZCH14_HUMAN	Q	119	ENSP00000268616:E119Q	ENSP00000268616:E119Q	E	-	1	0	ZCCHC14	86024237	1.000000	0.71417	1.000000	0.80357	0.563000	0.35712	4.099000	0.57755	2.529000	0.85273	0.563000	0.77884	GAG	ZCCHC14	-	superfamily_Phox	ENSG00000140948		0.383	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC14	HGNC	protein_coding	OTTHUMT00000269107.1	241	0.00	0	C	NM_015144		87466736	87466736	-1	no_errors	ENST00000268616	ensembl	human	known	69_37n	missense	241	12.36	34	SNP	1.000	G
ZCCHC4	29063	genome.wustl.edu	37	4	25334905	25334905	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:25334905C>G	ENST00000302874.4	+	4	454	c.430C>G	c.(430-432)Cag>Gag	p.Q144E	ZCCHC4_ENST00000505451.1_3'UTR	NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	144							methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				TAGTGAGCATCAGGTTCTGGG	0.433																																						dbGAP											0													130.0	118.0	122.0					4																	25334905		1870	4108	5978	-	-	-	SO:0001583	missense	0			AF161537	CCDS43218.1	4p15.31	2014-02-18			ENSG00000168228	ENSG00000168228		"""Zinc fingers, CCHC domain containing"""	22917	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 4"""	611792				11042152	Standard	NM_024936		Approved	HSPC052, FLJ23024, ZGRF4	uc003grl.4	Q9H5U6	OTTHUMG00000160563	ENST00000302874.4:c.430C>G	4.37:g.25334905C>G	ENSP00000303468:p.Gln144Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RXF6|B4DRD8|B7ZW20|Q5IW78|Q96AN7	Nonsense_Mutation	SNP	pfam_N6_adenine_Mtase-rel_euk,pfscan_Znf_DHHC_palmitoyltrfase	p.S8*	ENST00000302874.4	37	c.23	CCDS43218.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.500|1.500	-0.552409|-0.552409	0.03996|0.03996	.|.	.|.	ENSG00000168228|ENSG00000168228	ENST00000302874;ENST00000450254|ENST00000505412	T|.	0.20881|.	2.04|.	5.75|5.75	3.01|3.01	0.34805|0.34805	.|.	0.643137|.	0.16090|.	N|.	0.230096|.	T|.	0.42154|.	0.1190|.	L|L	0.47716|0.47716	1.5|1.5	0.09310|0.09310	N|N	1|1	B|.	0.09022|.	0.002|.	B|.	0.06405|.	0.002|.	T|.	0.22977|.	-1.0201|.	10|.	0.16420|.	T|.	0.52|.	-8.4891|-8.4891	11.0499|11.0499	0.47880|0.47880	0.0:0.6922:0.2422:0.0656|0.0:0.6922:0.2422:0.0656	.|.	144|.	Q9H5U6|.	ZCHC4_HUMAN|.	E|X	144;119|8	ENSP00000303468:Q144E|.	ENSP00000303468:Q144E|.	Q|S	+|+	1|2	0|0	ZCCHC4|ZCCHC4	24944003|24944003	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.392000|0.392000	0.30506|0.30506	0.514000|0.514000	0.22786|0.22786	0.317000|0.317000	0.23160|0.23160	0.655000|0.655000	0.94253|0.94253	CAG|TCA	ZCCHC4	-	NULL	ENSG00000168228		0.433	ZCCHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC4	HGNC	protein_coding	OTTHUMT00000361151.1	126	0.00	0	C			25334905	25334905	+1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000505412	ensembl	human	putative	69_37n	nonsense	99	28.78	40	SNP	0.003	G
ZCCHC6	79670	genome.wustl.edu	37	9	88916365	88916365	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:88916365G>A	ENST00000375963.3	-	26	4418	c.4246C>T	c.(4246-4248)Cag>Tag	p.Q1416*	ZCCHC6_ENST00000375957.1_Nonsense_Mutation_p.Q316*|ZCCHC6_ENST00000375961.2_Nonsense_Mutation_p.Q1378*|ZCCHC6_ENST00000375960.2_Nonsense_Mutation_p.Q1180*|ZCCHC6_ENST00000277141.6_Nonsense_Mutation_p.Q705*	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	1416					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						TTGGCTTTCTGAGGTGTGCAC	0.463																																						dbGAP											0													176.0	140.0	152.0					9																	88916365		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"""Zinc fingers, CCHC domain containing"""	25817	protein-coding gene	gene with protein product	"""TUTase7"""					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.4246C>T	9.37:g.88916365G>A	ENSP00000365130:p.Gln1416*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Nonsense_Mutation	SNP	pfam_PAP_assoc,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_U1,smart_Znf_CCHC,pfscan_Znf_CCHC	p.Q1416*	ENST00000375963.3	37	c.4246	CCDS35057.1	9	.	.	.	.	.	.	.	.	.	.	G	44	10.626711	0.99440	.	.	ENSG00000083223	ENST00000277141;ENST00000375960;ENST00000375961;ENST00000375957;ENST00000375963	.	.	.	5.38	4.47	0.54385	.	0.353536	0.29059	N	0.013276	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-24.4941	9.5824	0.39495	0.0:0.1409:0.5919:0.2672	.	.	.	.	X	705;1180;1378;316;1416	.	ENSP00000277141:Q705X	Q	-	1	0	ZCCHC6	88106185	1.000000	0.71417	0.844000	0.33320	0.992000	0.81027	2.539000	0.45718	1.459000	0.47892	0.655000	0.94253	CAG	ZCCHC6	-	NULL	ENSG00000083223		0.463	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC6	HGNC	protein_coding	OTTHUMT00000052918.1	240	0.41	1	G	NM_024617		88916365	88916365	-1	no_errors	ENST00000375963	ensembl	human	known	69_37n	nonsense	162	42.14	118	SNP	0.899	A
ZCWPW2	152098	genome.wustl.edu	37	3	28454653	28454653	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:28454653C>T	ENST00000383768.2	+	3	282	c.94C>T	c.(94-96)Caa>Taa	p.Q32*	ZCWPW2_ENST00000421010.1_Nonsense_Mutation_p.Q32*			Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	32							zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						AGTGTGGGTTCAATGTGAGAA	0.348																																						dbGAP											0													119.0	116.0	117.0					3																	28454653		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC065764	CCDS33723.1	3p23	2005-08-22			ENSG00000206559	ENSG00000206559			23574	protein-coding gene	gene with protein product						14607086	Standard	XM_005264892		Approved	ZCW2	uc003cei.3	Q504Y3	OTTHUMG00000155705	ENST00000383768.2:c.94C>T	3.37:g.28454653C>T	ENSP00000373278:p.Gln32*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_Znf_CW,pfam_PWWP,pfscan_PWWP,pfscan_Znf_CW	p.Q32*	ENST00000383768.2	37	c.94	CCDS33723.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.332753|7.332753	0.98217|0.98217	.|.	.|.	ENSG00000206559|ENSG00000206559	ENST00000420223;ENST00000383768;ENST00000421010|ENST00000428875	.|.	.|.	.|.	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	0.143577|.	0.33040|.	N|.	0.005356|.	.|T	.|0.66177	.|0.2763	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69960	.|-0.5003	.|3	0.72032|.	D|.	0.01|.	-16.0114|-16.0114	14.7822|14.7822	0.69774|0.69774	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	32|15	.|.	ENSP00000373278:Q32X|.	Q|S	+|+	1|2	0|0	ZCWPW2|ZCWPW2	28429657|28429657	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.987000|0.987000	0.75469|0.75469	4.220000|4.220000	0.58567|0.58567	2.558000|2.558000	0.86282|0.86282	0.591000|0.591000	0.81541|0.81541	CAA|TCA	ZCWPW2	-	pfam_Znf_CW,pfscan_Znf_CW	ENSG00000206559		0.348	ZCWPW2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCWPW2	HGNC	protein_coding	OTTHUMT00000341318.1	77	0.00	0	C	XM_087384		28454653	28454653	+1	no_errors	ENST00000383768	ensembl	human	known	69_37n	nonsense	80	23.08	24	SNP	1.000	T
ZDHHC12	84885	genome.wustl.edu	37	9	131484719	131484719	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:131484719G>A	ENST00000372663.4	-	2	247	c.235C>T	c.(235-237)Cag>Tag	p.Q79*	RP11-545E17.3_ENST00000443631.1_RNA|ZDHHC12_ENST00000372667.5_Nonsense_Mutation_p.Q93*|ZDHHC12_ENST00000467312.1_5'UTR|ZDHHC12_ENST00000372672.2_Nonsense_Mutation_p.Q79*	NM_032799.4	NP_116188	Q96GR4	ZDH12_HUMAN	zinc finger, DHHC-type containing 12	79					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(1)|ovary(2)|upper_aerodigestive_tract(1)	4						CTGGTTACCTGAGGCTGGGGC	0.617																																						dbGAP											0													46.0	34.0	38.0					9																	131484719		2162	4236	6398	-	-	-	SO:0001587	stop_gained	0			AK027430	CCDS6909.1	9q34.11	2008-02-05			ENSG00000160446	ENSG00000160446		"""Zinc fingers, DHHC-type"""	19159	protein-coding gene	gene with protein product							Standard	NM_032799		Approved	ZNF400, FLJ14524	uc004bvy.3	Q96GR4	OTTHUMG00000020756	ENST00000372663.4:c.235C>T	9.37:g.131484719G>A	ENSP00000361748:p.Gln79*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NH95|B2RE03|Q5T265|Q5T267|Q5T268|Q86VT5|Q96T09	Nonsense_Mutation	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.Q93*	ENST00000372663.4	37	c.277	CCDS6909.1	9	.	.	.	.	.	.	.	.	.	.	G	22.2	4.259355	0.80246	.	.	ENSG00000160446	ENST00000372663;ENST00000372672;ENST00000372667;ENST00000372664;ENST00000452105;ENST00000406904	.	.	.	4.77	4.77	0.60923	.	0.287528	0.33092	N	0.005295	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	13.2752	0.60184	0.0:0.0:1.0:0.0	.	.	.	.	X	79;79;93;79;79;134	.	ENSP00000361748:Q79X	Q	-	1	0	ZDHHC12	130524540	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	2.152000	0.42272	2.190000	0.69967	0.555000	0.69702	CAG	ZDHHC12	-	NULL	ENSG00000160446		0.617	ZDHHC12-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC12	HGNC	protein_coding	OTTHUMT00000054484.1	60	0.00	0	G	NM_032799		131484719	131484719	-1	no_errors	ENST00000372667	ensembl	human	known	69_37n	nonsense	78	17.89	17	SNP	0.998	A
ZDHHC12	84885	genome.wustl.edu	37	9	131486279	131486279	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:131486279C>G	ENST00000372663.4	-	1	106	c.94G>C	c.(94-96)Gat>Cat	p.D32H	RP11-545E17.3_ENST00000443631.1_RNA|ZDHHC12_ENST00000372667.5_Missense_Mutation_p.D32H|ZDHHC12_ENST00000467312.1_5'UTR|ZDHHC12_ENST00000372672.2_Missense_Mutation_p.D32H	NM_032799.4	NP_116188	Q96GR4	ZDH12_HUMAN	zinc finger, DHHC-type containing 12	32					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(1)|ovary(2)|upper_aerodigestive_tract(1)	4						TCACCGGTATCGTGCAGGAAG	0.692																																						dbGAP											0													32.0	32.0	32.0					9																	131486279		2201	4299	6500	-	-	-	SO:0001583	missense	0			AK027430	CCDS6909.1	9q34.11	2008-02-05			ENSG00000160446	ENSG00000160446		"""Zinc fingers, DHHC-type"""	19159	protein-coding gene	gene with protein product							Standard	NM_032799		Approved	ZNF400, FLJ14524	uc004bvy.3	Q96GR4	OTTHUMG00000020756	ENST00000372663.4:c.94G>C	9.37:g.131486279C>G	ENSP00000361748:p.Asp32His	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NH95|B2RE03|Q5T265|Q5T267|Q5T268|Q86VT5|Q96T09	Missense_Mutation	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.D32H	ENST00000372663.4	37	c.94	CCDS6909.1	9	.	.	.	.	.	.	.	.	.	.	C	26.1	4.703284	0.88924	.	.	ENSG00000160446	ENST00000372663;ENST00000372672;ENST00000372667;ENST00000372664;ENST00000452105;ENST00000406904	T;T;T;T	0.52983	1.52;1.3;1.33;0.64	5.16	4.2	0.49525	.	0.420500	0.24191	N	0.040702	T	0.61375	0.2342	L	0.58101	1.795	0.40972	D	0.984706	D;D	0.76494	0.999;0.991	D;P	0.66847	0.947;0.752	T	0.61093	-0.7132	10	0.39692	T	0.17	.	13.4908	0.61393	0.0:0.7613:0.2387:0.0	.	32;32	Q96GR4-3;Q96GR4	.;ZDH12_HUMAN	H	32	ENSP00000361748:D32H;ENSP00000361752:D32H;ENSP00000387587:D32H;ENSP00000384205:D32H	ENSP00000361748:D32H	D	-	1	0	ZDHHC12	130526100	0.991000	0.36638	1.000000	0.80357	0.995000	0.86356	1.783000	0.38664	2.402000	0.81655	0.462000	0.41574	GAT	ZDHHC12	-	NULL	ENSG00000160446		0.692	ZDHHC12-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC12	HGNC	protein_coding	OTTHUMT00000054484.1	22	0.00	0	C	NM_032799		131486279	131486279	-1	no_errors	ENST00000372667	ensembl	human	known	69_37n	missense	16	30.43	7	SNP	1.000	G
ZDHHC20	253832	genome.wustl.edu	37	13	21957099	21957099	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr13:21957099C>T	ENST00000400590.3	-	10	1102	c.904G>A	c.(904-906)Gaa>Aaa	p.E302K	ZDHHC20_ENST00000320220.9_Missense_Mutation_p.E302K|ZDHHC20_ENST00000494731.1_5'UTR|ZDHHC20_ENST00000382466.3_Missense_Mutation_p.E302K|ZDHHC20_ENST00000542645.1_Missense_Mutation_p.E239K|ZDHHC20_ENST00000415724.1_Missense_Mutation_p.E302K			Q5W0Z9	ZDH20_HUMAN	zinc finger, DHHC-type containing 20	302					protein palmitoylation (GO:0018345)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9		all_cancers(29;8.1e-16)|all_epithelial(30;3.63e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)		all cancers(112;0.000268)|Epithelial(112;0.000735)|OV - Ovarian serous cystadenocarcinoma(117;0.00517)|Lung(94;0.171)		GAAGCTTGTTCTGGATCCATC	0.353																																						dbGAP											0													55.0	54.0	54.0					13																	21957099		1885	4095	5980	-	-	-	SO:0001583	missense	0			AK090979	CCDS45017.1, CCDS73551.1	13q12.11	2008-10-21			ENSG00000180776	ENSG00000180776		"""Zinc fingers, DHHC-type"""	20749	protein-coding gene	gene with protein product							Standard	NM_153251		Approved	FLJ25952	uc001uoa.2	Q5W0Z9	OTTHUMG00000017410	ENST00000400590.3:c.904G>A	13.37:g.21957099C>T	ENSP00000383433:p.Glu302Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MTV9|C9JG20|I6L9D4|Q2TB82|Q6NVU8	Missense_Mutation	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.E302K	ENST00000400590.3	37	c.904		13	.	.	.	.	.	.	.	.	.	.	C	34	5.334380	0.95758	.	.	ENSG00000180776	ENST00000400590;ENST00000320220;ENST00000382466;ENST00000542645;ENST00000415724	T;T;T;T;T	0.52754	0.92;0.89;0.91;0.65;0.92	5.5	5.5	0.81552	.	1.088490	0.06748	N	0.779553	T	0.66867	0.2833	M	0.68952	2.095	0.80722	D	1	B;P	0.40553	0.417;0.721	B;P	0.50314	0.266;0.637	T	0.60224	-0.7305	10	0.66056	D	0.02	-9.3241	19.7739	0.96383	0.0:1.0:0.0:0.0	.	239;302	B4DRN8;Q5W0Z9-3	.;.	K	302;302;302;239;302	ENSP00000383433:E302K;ENSP00000313583:E302K;ENSP00000371905:E302K;ENSP00000443236:E239K;ENSP00000401232:E302K	ENSP00000313583:E302K	E	-	1	0	ZDHHC20	20855099	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.701000	0.74624	2.744000	0.94065	0.655000	0.94253	GAA	ZDHHC20	-	NULL	ENSG00000180776		0.353	ZDHHC20-001	KNOWN	basic|appris_candidate_longest	protein_coding	ZDHHC20	HGNC	protein_coding	OTTHUMT00000045994.1	95	0.00	0	C	NM_153251		21957099	21957099	-1	no_errors	ENST00000400590	ensembl	human	known	69_37n	missense	67	18.29	15	SNP	1.000	T
ZDHHC23	254887	genome.wustl.edu	37	3	113672592	113672592	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:113672592C>G	ENST00000330212.3	+	3	506	c.207C>G	c.(205-207)atC>atG	p.I69M	ZDHHC23_ENST00000498275.1_Missense_Mutation_p.I63M	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC-type containing 23	69					protein localization to plasma membrane (GO:0072659)|protein palmitoylation (GO:0018345)	integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						GTGAAAGAATCATGGATACAA	0.428																																						dbGAP											0													87.0	81.0	83.0					3																	113672592		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK127025	CCDS33827.1	3q13.31	2008-05-02			ENSG00000184307	ENSG00000184307		"""Zinc fingers, DHHC-type"""	28654	protein-coding gene	gene with protein product						12477932	Standard	NM_173570		Approved	MGC42530	uc003eau.3	Q8IYP9	OTTHUMG00000159335	ENST00000330212.3:c.207C>G	3.37:g.113672592C>G	ENSP00000330485:p.Ile69Met	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DN76	Missense_Mutation	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.I69M	ENST00000330212.3	37	c.207	CCDS33827.1	3	.	.	.	.	.	.	.	.	.	.	C	12.32	1.901489	0.33535	.	.	ENSG00000184307	ENST00000330212;ENST00000498275;ENST00000491556	T;T;T	0.46451	0.9;0.9;0.87	5.76	3.95	0.45737	.	0.110796	0.64402	D	0.000006	T	0.37237	0.0996	N	0.11789	0.175	0.32970	D	0.522153	D	0.56968	0.978	P	0.56216	0.794	T	0.53107	-0.8485	10	0.66056	D	0.02	-3.0198	10.3985	0.44216	0.0:0.793:0.0:0.2069	.	69	Q8IYP9	ZDH23_HUMAN	M	69;63;69	ENSP00000330485:I69M;ENSP00000417840:I63M;ENSP00000420292:I69M	ENSP00000330485:I69M	I	+	3	3	ZDHHC23	115155282	.	.	1.000000	0.80357	0.975000	0.68041	.	.	1.435000	0.47434	0.462000	0.41574	ATC	ZDHHC23	-	NULL	ENSG00000184307		0.428	ZDHHC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC23	HGNC	protein_coding	OTTHUMT00000354702.1	57	0.00	0	C	NM_173570		113672592	113672592	+1	no_errors	ENST00000478793	ensembl	human	known	69_37n	missense	53	32.05	25	SNP	0.991	G
ZDHHC23	254887	genome.wustl.edu	37	3	113672814	113672814	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:113672814C>A	ENST00000330212.3	+	3	728	c.429C>A	c.(427-429)agC>agA	p.S143R	ZDHHC23_ENST00000498275.1_Missense_Mutation_p.S137R	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC-type containing 23	143					protein localization to plasma membrane (GO:0072659)|protein palmitoylation (GO:0018345)	integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						TTTTCCTGAGCCTTGGACTGT	0.552																																						dbGAP											0													150.0	135.0	140.0					3																	113672814		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK127025	CCDS33827.1	3q13.31	2008-05-02			ENSG00000184307	ENSG00000184307		"""Zinc fingers, DHHC-type"""	28654	protein-coding gene	gene with protein product						12477932	Standard	NM_173570		Approved	MGC42530	uc003eau.3	Q8IYP9	OTTHUMG00000159335	ENST00000330212.3:c.429C>A	3.37:g.113672814C>A	ENSP00000330485:p.Ser143Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DN76	Missense_Mutation	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.S143R	ENST00000330212.3	37	c.429	CCDS33827.1	3	.	.	.	.	.	.	.	.	.	.	C	18.95	3.731616	0.69189	.	.	ENSG00000184307	ENST00000330212;ENST00000498275;ENST00000491556	T;T;T	0.56444	0.71;0.73;0.46	5.66	4.78	0.61160	.	0.038176	0.85682	D	0.000000	T	0.69878	0.3160	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.72633	-0.4234	10	0.72032	D	0.01	-10.1515	12.2806	0.54760	0.0:0.8657:0.0:0.1343	.	143	Q8IYP9	ZDH23_HUMAN	R	143;137;143	ENSP00000330485:S143R;ENSP00000417840:S137R;ENSP00000420292:S143R	ENSP00000330485:S143R	S	+	3	2	ZDHHC23	115155504	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.597000	0.54031	2.672000	0.90937	0.462000	0.41574	AGC	ZDHHC23	-	NULL	ENSG00000184307		0.552	ZDHHC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC23	HGNC	protein_coding	OTTHUMT00000354702.1	112	0.00	0	C	NM_173570		113672814	113672814	+1	no_errors	ENST00000478793	ensembl	human	known	69_37n	missense	106	45.36	88	SNP	1.000	A
ZDHHC9	51114	genome.wustl.edu	37	X	128963021	128963021	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:128963021G>A	ENST00000357166.6	-	4	655	c.264C>T	c.(262-264)ttC>ttT	p.F88F	ZDHHC9_ENST00000371064.3_Silent_p.F88F	NM_016032.3	NP_057116.2	Q9Y397	ZDHC9_HUMAN	zinc finger, DHHC-type containing 9	88					peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein palmitoylation (GO:0018345)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|palmitoyltransferase complex (GO:0002178)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|Ras palmitoyltransferase activity (GO:0043849)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	19						CAGGGTCACTGAAGCTGGTCC	0.532																																						dbGAP											0													130.0	106.0	114.0					X																	128963021		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF151847	CCDS35395.1	Xq26.1	2008-02-05			ENSG00000188706	ENSG00000188706		"""Zinc fingers, DHHC-type"""	18475	protein-coding gene	gene with protein product		300646	"""zinc finger, DHHC-type containing 10"", ""chromosome X open reading frame 11"""	ZDHHC10, CXorf11		10810093	Standard	NM_001008222		Approved	ZNF379, CGI-89, ZNF380	uc004euw.3	Q9Y397	OTTHUMG00000022375	ENST00000357166.6:c.264C>T	X.37:g.128963021G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4F6G2|D3DTF9|Q59EK4|Q5JSW5|Q8WWS7|Q9BPY4|Q9NSP0|Q9NVL0|Q9NVR6	Missense_Mutation	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.S48L	ENST00000357166.6	37	c.143	CCDS35395.1	X	.	.	.	.	.	.	.	.	.	.	G	10.07	1.248792	0.22880	.	.	ENSG00000188706	ENST00000433917	.	.	.	5.7	4.63	0.57726	.	.	.	.	.	T	0.63474	0.2514	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60687	-0.7214	4	.	.	.	-15.48	11.9472	0.52934	0.0973:0.0:0.9027:0.0	.	.	.	.	L	48	.	.	S	-	2	0	ZDHHC9	128790702	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.118000	0.64673	1.019000	0.39547	0.594000	0.82650	TCA	ZDHHC9	-	NULL	ENSG00000188706		0.532	ZDHHC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC9	HGNC	protein_coding	OTTHUMT00000058213.1	68	0.00	0	G	NM_016032		128963021	128963021	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000433917	ensembl	human	known	69_37n	missense	55	24.66	18	SNP	1.000	A
ZFAND1	79752	genome.wustl.edu	37	8	82627114	82627114	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:82627114C>G	ENST00000220669.5	-	5	301	c.283G>C	c.(283-285)Gat>Cat	p.D95H	ZFAND1_ENST00000519523.1_Missense_Mutation_p.D95H|ZFAND1_ENST00000517588.1_5'UTR|ZFAND1_ENST00000521895.1_5'UTR|ZFAND1_ENST00000523096.1_Missense_Mutation_p.D95H|ZFAND1_ENST00000522520.1_5'UTR|ZFAND1_ENST00000521287.1_5'UTR	NM_024699.2	NP_078975.2	Q8TCF1	ZFAN1_HUMAN	zinc finger, AN1-type domain 1	95							zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						CACTCATGATCTGACTGATGA	0.393																																						dbGAP											0													135.0	121.0	126.0					8																	82627114		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6232.1, CCDS55250.1, CCDS55251.1	8q21.13	2006-07-07						"""Zinc fingers, AN1-type domain containing"""	25858	protein-coding gene	gene with protein product						12477932	Standard	NM_024699		Approved	FLJ14007	uc003ycj.2	Q8TCF1		ENST00000220669.5:c.283G>C	8.37:g.82627114C>G	ENSP00000220669:p.Asp95His	Somatic		WXS	Illumina GAIIx	Phase_IV	E5RIG0|E5RJ99|Q658R7|Q6IA32|Q6PGQ6|Q9H810	Missense_Mutation	SNP	pfam_Znf_AN1,smart_Znf_AN1,pfscan_Znf_AN1	p.D95H	ENST00000220669.5	37	c.283	CCDS6232.1	8	.	.	.	.	.	.	.	.	.	.	C	21.7	4.189914	0.78789	.	.	ENSG00000104231	ENST00000523096;ENST00000220669;ENST00000519523	T;T;T	0.49139	0.79;0.79;0.79	5.85	4.98	0.66077	Zinc finger, AN1-type (4);	0.000000	0.85682	D	0.000000	T	0.74854	0.3771	M	0.91459	3.21	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81536	-0.0888	10	0.72032	D	0.01	.	14.9458	0.71029	0.0:0.9318:0.0:0.0682	.	95;95	E5RIG0;Q8TCF1	.;ZFAN1_HUMAN	H	95	ENSP00000430736:D95H;ENSP00000220669:D95H;ENSP00000429167:D95H	ENSP00000220669:D95H	D	-	1	0	ZFAND1	82789669	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.563000	0.67352	1.491000	0.48482	-0.136000	0.14681	GAT	ZFAND1	-	pfam_Znf_AN1,smart_Znf_AN1	ENSG00000104231		0.393	ZFAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFAND1	HGNC	protein_coding	OTTHUMT00000379739.1	94	0.00	0	C	NM_024699		82627114	82627114	-1	no_errors	ENST00000220669	ensembl	human	known	69_37n	missense	111	21.83	31	SNP	1.000	G
ZFHX3	463	genome.wustl.edu	37	16	72829037	72829037	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:72829037G>C	ENST00000268489.5	-	9	8216	c.7544C>G	c.(7543-7545)tCa>tGa	p.S2515*	ZFHX3_ENST00000397992.5_Nonsense_Mutation_p.S1601*	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2515					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)				TTGAGGAGTTGATGTGTGGAG	0.592																																						dbGAP											0													70.0	73.0	72.0					16																	72829037		2198	4300	6498	-	-	-	SO:0001587	stop_gained	0			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.7544C>G	16.37:g.72829037G>C	ENSP00000268489:p.Ser2515*	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DWS8|O15101|Q13719	Nonsense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.S2515*	ENST00000268489.5	37	c.7544	CCDS10908.1	16	.	.	.	.	.	.	.	.	.	.	G	50	16.957269	0.99876	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	.	.	.	5.41	5.41	0.78517	.	0.000000	0.43747	D	0.000527	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	19.1733	0.93590	0.0:0.0:1.0:0.0	.	.	.	.	X	2515;1601	.	ENSP00000268489:S2515X	S	-	2	0	ZFHX3	71386538	1.000000	0.71417	1.000000	0.80357	0.715000	0.41141	8.001000	0.88508	2.522000	0.85027	0.561000	0.74099	TCA	ZFHX3	-	NULL	ENSG00000140836		0.592	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1	117	0.00	0	G	NM_006885		72829037	72829037	-1	no_errors	ENST00000268489	ensembl	human	known	69_37n	nonsense	77	43.48	60	SNP	1.000	C
ZFHX3	463	genome.wustl.edu	37	16	72830632	72830632	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:72830632G>A	ENST00000268489.5	-	9	6621	c.5949C>T	c.(5947-5949)ctC>ctT	p.L1983L	ZFHX3_ENST00000397992.5_Silent_p.L1069L	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1983					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)				AGTCACACTCGAGCTTTTCCA	0.428																																						dbGAP											0													112.0	107.0	109.0					16																	72830632		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			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.5949C>T	16.37:g.72830632G>A		Somatic		WXS	Illumina GAIIx	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.L1983	ENST00000268489.5	37	c.5949	CCDS10908.1	16																																																																																			ZFHX3	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000140836		0.428	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1	37	0.00	0	G	NM_006885		72830632	72830632	-1	no_errors	ENST00000268489	ensembl	human	known	69_37n	silent	27	46.00	23	SNP	0.175	A
ZFHX3	463	genome.wustl.edu	37	16	72831142	72831142	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:72831142C>T	ENST00000268489.5	-	9	6111	c.5439G>A	c.(5437-5439)gtG>gtA	p.V1813V	ZFHX3_ENST00000397992.5_Silent_p.V899V	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1813					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)				CTGGCAAGCTCACCTCGGGGT	0.587																																						dbGAP											0													92.0	87.0	88.0					16																	72831142		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			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.5439G>A	16.37:g.72831142C>T		Somatic		WXS	Illumina GAIIx	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.V1813	ENST00000268489.5	37	c.5439	CCDS10908.1	16																																																																																			ZFHX3	-	NULL	ENSG00000140836		0.587	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1	70	0.00	0	C	NM_006885		72831142	72831142	-1	no_errors	ENST00000268489	ensembl	human	known	69_37n	silent	84	40.00	56	SNP	0.998	T
ZFHX4	79776	genome.wustl.edu	37	8	77765158	77765158	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:77765158G>A	ENST00000521891.2	+	10	6449	c.6001G>A	c.(6001-6003)Gaa>Aaa	p.E2001K	ZFHX4_ENST00000050961.6_Missense_Mutation_p.E1956K|ZFHX4_ENST00000518282.1_Missense_Mutation_p.E1975K|ZFHX4_ENST00000455469.2_Missense_Mutation_p.E1956K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1956	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATCTTCTCCAGAAACGccgcc	0.512										HNSCC(33;0.089)																												dbGAP											0													37.0	37.0	37.0					8																	77765158		1902	4115	6017	-	-	-	SO:0001583	missense	0				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.6001G>A	8.37:g.77765158G>A	ENSP00000430497:p.Glu2001Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.E2001K	ENST00000521891.2	37	c.6001	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	G	28.1	4.891444	0.91889	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	4.06	4.06	0.47325	.	0.000000	0.45361	U	0.000372	T	0.63604	0.2525	L	0.58101	1.795	0.54753	D	0.999983	D;D;D	0.67145	0.993;0.996;0.996	D;D;D	0.73708	0.956;0.981;0.981	T	0.62163	-0.6912	10	0.33141	T	0.24	.	16.8418	0.85971	0.0:0.0:1.0:0.0	.	1956;1956;2001	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	K	2001;2001;1956;1956;1975	ENSP00000430497:E2001K;ENSP00000399605:E1956K;ENSP00000050961:E1956K;ENSP00000430848:E1975K	ENSP00000050961:E1956K	E	+	1	0	ZFHX4	77927713	1.000000	0.71417	0.883000	0.34634	0.979000	0.70002	7.379000	0.79691	2.295000	0.77249	0.435000	0.28638	GAA	ZFHX4	-	superfamily_Adenylate_cyclase-assoc_CAP_N	ENSG00000091656		0.512	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	44	0.00	0	G	NM_024721		77765158	77765158	+1	no_errors	ENST00000521891	ensembl	human	known	69_37n	missense	39	18.75	9	SNP	1.000	A
ZFHX4	79776	genome.wustl.edu	37	8	77767177	77767177	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:77767177C>G	ENST00000521891.2	+	10	8468	c.8020C>G	c.(8020-8022)Cat>Gat	p.H2674D	ZFHX4_ENST00000050961.6_Missense_Mutation_p.H2629D|ZFHX4_ENST00000518282.1_Missense_Mutation_p.H2648D|ZFHX4_ENST00000455469.2_Missense_Mutation_p.H2629D	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2629					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGCACAGTCTCATAAACGGTG	0.547										HNSCC(33;0.089)																												dbGAP											0													59.0	61.0	60.0					8																	77767177		1943	4149	6092	-	-	-	SO:0001583	missense	0				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.8020C>G	8.37:g.77767177C>G	ENSP00000430497:p.His2674Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.H2674D	ENST00000521891.2	37	c.8020	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	C	11.73	1.725879	0.30593	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.27720	1.65;1.65;1.65;1.65	5.12	5.12	0.69794	Homeodomain-related (1);	0.000000	0.45606	U	0.000344	T	0.41511	0.1162	N	0.17901	0.54	0.80722	D	1	P;B;P	0.52316	0.833;0.259;0.952	P;P;D	0.65010	0.782;0.593;0.931	T	0.35847	-0.9772	10	0.54805	T	0.06	.	18.7313	0.91736	0.0:1.0:0.0:0.0	.	2629;2629;2674	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	D	2674;2658;2629;2629;2648	ENSP00000430497:H2674D;ENSP00000399605:H2629D;ENSP00000050961:H2629D;ENSP00000430848:H2648D	ENSP00000050961:H2629D	H	+	1	0	ZFHX4	77929732	1.000000	0.71417	0.339000	0.25562	0.242000	0.25591	7.651000	0.83577	2.659000	0.90383	0.555000	0.69702	CAT	ZFHX4	-	NULL	ENSG00000091656		0.547	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	38	0.00	0	C	NM_024721		77767177	77767177	+1	no_errors	ENST00000521891	ensembl	human	known	69_37n	missense	25	21.88	7	SNP	1.000	G
ZNF106	64397	genome.wustl.edu	37	15	42730858	42730858	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:42730858C>G	ENST00000263805.4	-	9	4809	c.4483G>C	c.(4483-4485)Gaa>Caa	p.E1495Q	ZNF106_ENST00000565380.1_Missense_Mutation_p.E723Q|ZNF106_ENST00000565611.1_Missense_Mutation_p.E680Q	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	1495					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GTCTGAGTTTCTGCCACACTA	0.343																																						dbGAP											0													64.0	63.0	63.0					15																	42730858		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.4483G>C	15.37:g.42730858C>G	ENSP00000263805:p.Glu1495Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_Znf_C2H2-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E1495Q	ENST00000263805.4	37	c.4483	CCDS32208.1	15	.	.	.	.	.	.	.	.	.	.	C	20.5	4.004027	0.74932	.	.	ENSG00000103994	ENST00000263805;ENST00000434903	T	0.58797	0.31	5.13	5.13	0.70059	.	0.236147	0.44097	D	0.000484	T	0.70736	0.3258	L	0.54323	1.7	0.46279	D	0.998969	D;D;D	0.71674	0.998;0.998;0.996	D;D;P	0.78314	0.953;0.991;0.837	T	0.67669	-0.5611	10	0.35671	T	0.21	-20.7514	15.8731	0.79136	0.0:1.0:0.0:0.0	.	723;1495;723	E9PE29;Q9H2Y7;B4DZ40	.;ZF106_HUMAN;.	Q	1495;723	ENSP00000263805:E1495Q	ENSP00000263805:E1495Q	E	-	1	0	ZFP106	40518150	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.377000	0.59562	2.658000	0.90341	0.650000	0.86243	GAA	ZFP106	-	NULL	ENSG00000103994		0.343	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP106	HGNC	protein_coding	OTTHUMT00000422587.1	126	0.00	0	C	NM_022473		42730858	42730858	-1	no_errors	ENST00000263805	ensembl	human	known	69_37n	missense	83	26.55	30	SNP	1.000	G
ZNF106	64397	genome.wustl.edu	37	15	42744120	42744120	+	Missense_Mutation	SNP	A	A	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:42744120A>G	ENST00000263805.4	-	2	607	c.281T>C	c.(280-282)aTa>aCa	p.I94T	ZNF106_ENST00000565380.1_Intron|ZNF106_ENST00000565611.1_Intron	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	94					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										ATCAGAGTTTATTTCTTGGTT	0.433																																						dbGAP											0													216.0	200.0	206.0					15																	42744120		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.281T>C	15.37:g.42744120A>G	ENSP00000263805:p.Ile94Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_Znf_C2H2-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I94T	ENST00000263805.4	37	c.281	CCDS32208.1	15	.	.	.	.	.	.	.	.	.	.	A	6.231	0.410749	0.11812	.	.	ENSG00000103994	ENST00000263805	T	0.16196	2.36	5.92	2.18	0.27775	.	0.543885	0.19910	N	0.103303	T	0.09069	0.0224	N	0.19112	0.55	0.58432	D	0.999998	B	0.02656	0.0	B	0.04013	0.001	T	0.21827	-1.0234	10	0.39692	T	0.17	-3.7496	3.8549	0.08971	0.4697:0.0:0.1776:0.3527	.	94	Q9H2Y7	ZF106_HUMAN	T	94	ENSP00000263805:I94T	ENSP00000263805:I94T	I	-	2	0	ZFP106	40531412	0.993000	0.37304	0.996000	0.52242	0.966000	0.64601	0.328000	0.19681	0.107000	0.17824	-0.276000	0.10085	ATA	ZFP106	-	NULL	ENSG00000103994		0.433	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP106	HGNC	protein_coding	OTTHUMT00000422587.1	139	0.00	0	A	NM_022473		42744120	42744120	-1	no_errors	ENST00000263805	ensembl	human	known	69_37n	missense	104	26.24	37	SNP	0.898	G
ZNF112	7771	genome.wustl.edu	37	19	44832306	44832306	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:44832306G>A	ENST00000337401.4	-	5	2110	c.2022C>T	c.(2020-2022)ttC>ttT	p.F674F	ZNF112_ENST00000354340.4_Silent_p.F668F|ZNF112_ENST00000536500.1_Silent_p.F691F	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	674					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										AGGCCTTACTGAAGCCTTTAC	0.448																																						dbGAP											0													84.0	80.0	82.0					19																	44832306		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"""Zinc fingers, C2H2-type"""	12892	protein-coding gene	gene with protein product		603994	"""zinc finger protein 112 homolog (mouse)"", ""zinc finger protein 228"""	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.2022C>T	19.37:g.44832306G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A4FU53|Q9HCA7	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.F691	ENST00000337401.4	37	c.2073	CCDS54276.1	19																																																																																			ZFP112	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000062370		0.448	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFP112	HGNC	protein_coding	OTTHUMT00000460744.1	91	0.00	0	G	NM_013380		44832306	44832306	-1	no_errors	ENST00000536500	ensembl	human	known	69_37n	silent	62	24.39	20	SNP	1.000	A
ZFP28	140612	genome.wustl.edu	37	19	57060376	57060376	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:57060376C>T	ENST00000301318.3	+	5	644	c.573C>T	c.(571-573)ttC>ttT	p.F191F	AC007228.11_ENST00000596587.1_RNA|ZFP28_ENST00000591844.1_Silent_p.F191F	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	191					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(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		AGAAGGACTTCTGCGAAGGAA	0.413																																					Ovarian(124;554 1662 19430 21141 52494)	dbGAP											0													73.0	68.0	70.0					19																	57060376		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"""Zinc fingers, C2H2-type"", ""-"""	17801	protein-coding gene	gene with protein product			"""zinc finger protein 28 homolog (mouse)"""				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.573C>T	19.37:g.57060376C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	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.F191	ENST00000301318.3	37	c.573	CCDS12946.1	19																																																																																			ZFP28	-	NULL	ENSG00000196867		0.413	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP28	HGNC	protein_coding	OTTHUMT00000458409.1	53	0.00	0	C	NM_020828		57060376	57060376	+1	no_errors	ENST00000301318	ensembl	human	known	69_37n	silent	48	22.58	14	SNP	0.000	T
ZFP3	124961	genome.wustl.edu	37	17	4995790	4995790	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:4995790C>T	ENST00000318833.3	+	2	1327	c.991C>T	c.(991-993)Cat>Tat	p.H331Y		NM_153018.2	NP_694563.1	Q96NJ6	ZFP3_HUMAN	ZFP3 zinc finger protein	331					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)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						TCAGAGAATTCATACAGGGGA	0.408																																						dbGAP											0													38.0	42.0	41.0					17																	4995790		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX647638	CCDS11067.1	17p13.2	2013-01-08	2012-11-27		ENSG00000180787	ENSG00000180787		"""Zinc fingers, C2H2-type"""	12861	protein-coding gene	gene with protein product		194480	"""zinc finger protein homologous to Zfp-3 in mouse"", ""zinc finger protein 3 homolog (mouse)"""				Standard	NM_153018		Approved	FLJ30726, ZNF752	uc002gaq.3	Q96NJ6		ENST00000318833.3:c.991C>T	17.37:g.4995790C>T	ENSP00000320347:p.His331Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PLL4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H331Y	ENST00000318833.3	37	c.991	CCDS11067.1	17	.	.	.	.	.	.	.	.	.	.	C	20.3	3.960607	0.74016	.	.	ENSG00000180787	ENST00000318833	T	0.67523	-0.27	4.06	4.06	0.47325	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37577	N	0.002027	D	0.84924	0.5580	M	0.93854	3.465	0.44995	D	0.998019	D	0.60575	0.988	D	0.69479	0.964	D	0.88781	0.3271	10	0.87932	D	0	-11.3977	14.545	0.68024	0.0:1.0:0.0:0.0	.	331	Q96NJ6	ZFP3_HUMAN	Y	331	ENSP00000320347:H331Y	ENSP00000320347:H331Y	H	+	1	0	ZFP3	4936514	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.839000	0.69395	2.555000	0.86185	0.655000	0.94253	CAT	ZFP3	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000180787		0.408	ZFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP3	HGNC	protein_coding	OTTHUMT00000438979.1	49	0.00	0	C	NM_153018		4995790	4995790	+1	no_errors	ENST00000318833	ensembl	human	known	69_37n	missense	33	15.38	6	SNP	1.000	T
ZFP30	22835	genome.wustl.edu	37	19	38126340	38126340	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:38126340G>C	ENST00000351218.2	-	6	1659	c.1102C>G	c.(1102-1104)Cat>Gat	p.H368D	ZFP30_ENST00000392144.1_Missense_Mutation_p.H368D|ZFP30_ENST00000589018.1_Intron|ZFP30_ENST00000514101.2_Missense_Mutation_p.H368D	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	368					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)			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGAGTTAGATGATAGCCACGA	0.413																																						dbGAP											0													71.0	73.0	72.0					19																	38126340		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023178	CCDS33005.1	19q13.13	2013-01-08	2012-11-27		ENSG00000120784	ENSG00000120784		"""Zinc fingers, C2H2-type"", ""-"""	29555	protein-coding gene	gene with protein product			"""zinc finger protein 30 homolog (mouse)"""			10231032	Standard	NM_014898		Approved	ZNF745, KIAA0961	uc002ogx.1	Q9Y2G7	OTTHUMG00000048177	ENST00000351218.2:c.1102C>G	19.37:g.38126340G>C	ENSP00000343581:p.His368Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q58EY8	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.H368D	ENST00000351218.2	37	c.1102	CCDS33005.1	19	.	.	.	.	.	.	.	.	.	.	G	12.75	2.030460	0.35797	.	.	ENSG00000120784	ENST00000351218;ENST00000514101;ENST00000392144;ENST00000440715	T;T;T	0.07114	3.22;3.22;3.22	3.9	2.75	0.32379	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36002	N	0.002857	T	0.12902	0.0313	N	0.17674	0.51	0.28058	N	0.933098	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.12941	-1.0528	10	0.20519	T	0.43	.	12.2192	0.54425	0.0:0.0:0.8292:0.1708	.	368;368	D3Y2A0;Q9Y2G7	.;ZFP30_HUMAN	D	368;368;368;283	ENSP00000343581:H368D;ENSP00000422930:H368D;ENSP00000375988:H368D	ENSP00000343581:H368D	H	-	1	0	ZFP30	42818180	0.000000	0.05858	0.999000	0.59377	0.957000	0.61999	-1.662000	0.01970	2.175000	0.68902	0.591000	0.81541	CAT	ZFP30	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000120784		0.413	ZFP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP30	HGNC	protein_coding	OTTHUMT00000109601.2	75	0.00	0	G	NM_014898		38126340	38126340	-1	no_errors	ENST00000351218	ensembl	human	known	69_37n	missense	33	26.67	12	SNP	0.934	C
ZFP36	7538	genome.wustl.edu	37	19	39899202	39899202	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:39899202G>A	ENST00000248673.3	+	2	902	c.844G>A	c.(844-846)Gat>Aat	p.D282N	ZFP36_ENST00000597629.1_Missense_Mutation_p.D288N|MIR4530_ENST00000581459.1_RNA	NM_003407.3	NP_003398.2	P26651	TTP_HUMAN	ZFP36 ring finger protein	282					3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of inflammatory response (GO:0050728)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of tumor necrosis factor production (GO:0032680)|response to starvation (GO:0042594)|RNA destabilization (GO:0050779)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|AU-rich element binding (GO:0017091)|C-C chemokine binding (GO:0019957)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|single-stranded RNA binding (GO:0003727)			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			ATCCGACCCTGATGAATATGC	0.677																																					NSCLC(67;1164 1324 12056 21056 30097)	dbGAP											0													31.0	35.0	33.0					19																	39899202		2203	4300	6503	-	-	-	SO:0001583	missense	0			M63625	CCDS12534.1, CCDS12534.2	19q13.1	2012-11-27	2012-11-27			ENSG00000128016		"""RING-type (C3HC4) zinc fingers"""	12862	protein-coding gene	gene with protein product		190700	"""zinc finger protein 36, C3H type, homolog (mouse)"""			1699942	Standard	NM_003407		Approved	RNF162A, TIS11, G0S24, TTP, NUP475, tristetraprolin	uc002olh.2	P26651		ENST00000248673.3:c.844G>A	19.37:g.39899202G>A	ENSP00000248673:p.Asp282Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RA54	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.D282N	ENST00000248673.3	37	c.844		19	.	.	.	.	.	.	.	.	.	.	G	8.999	0.979649	0.18812	.	.	ENSG00000128016	ENST00000248673	T	0.24151	1.87	4.55	3.51	0.40186	.	0.200950	0.41194	U	0.000938	T	0.19644	0.0472	L	0.50333	1.59	0.26232	N	0.979003	B	0.23650	0.089	B	0.22601	0.04	T	0.14952	-1.0454	10	0.21540	T	0.41	-3.7415	6.3429	0.21332	0.1001:0.1862:0.7137:0.0	.	282	P26651	TTP_HUMAN	N	282	ENSP00000248673:D282N	ENSP00000248673:D282N	D	+	1	0	ZFP36	44591042	0.993000	0.37304	0.172000	0.22920	0.017000	0.09413	4.997000	0.63921	1.165000	0.42670	-0.416000	0.06073	GAT	ZFP36	-	NULL	ENSG00000128016		0.677	ZFP36-201	KNOWN	basic|appris_candidate	protein_coding	ZFP36	HGNC	protein_coding		20	0.00	0	G			39899202	39899202	+1	no_errors	ENST00000248673	ensembl	human	known	69_37n	missense	13	23.53	4	SNP	0.805	A
ZFP62	643836	genome.wustl.edu	37	5	180277231	180277231	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:180277231C>T	ENST00000502412.1	-	2	1321	c.1264G>A	c.(1264-1266)Gaa>Aaa	p.E422K	ZFP62_ENST00000512132.1_Missense_Mutation_p.E389K|ZFP62_ENST00000506377.1_Intron|ZFP62_ENST00000359141.6_Missense_Mutation_p.E362K	NM_001172638.1	NP_001166109.1	Q8NB50	ZFP62_HUMAN	ZFP62 zinc finger protein	422					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|endometrium(2)|pancreas(1)	4	all_cancers(89;4.01e-05)|all_epithelial(37;4.69e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00469)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCTTACATTCATGGGCTTTC	0.438																																						dbGAP											0													76.0	65.0	68.0					5																	180277231		692	1591	2283	-	-	-	SO:0001583	missense	0			AK002206	CCDS47357.1, CCDS47357.2, CCDS54955.1	5q35.3	2013-01-08	2012-11-27			ENSG00000196670		"""Zinc fingers, C2H2-type"""	23241	protein-coding gene	gene with protein product		610281	"""zinc finger protein 62 homolog (mouse)"", ""zinc finger protein 62"""			8808410	Standard	NM_152283		Approved	FLJ34231, ZET, ZNF755	uc011dhf.2	Q8NB50		ENST00000502412.1:c.1264G>A	5.37:g.180277231C>T	ENSP00000423820:p.Glu422Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DIP6|B4E0N3|B5MDX6|B7ZVZ2|B9EIP6|E9PFT8|J3QTA9	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E389K	ENST00000502412.1	37	c.1165	CCDS54955.1	5	.	.	.	.	.	.	.	.	.	.	.	1.364	-0.587902	0.03799	.	.	ENSG00000196670	ENST00000512132;ENST00000359141;ENST00000502412	T;T;T	0.18657	2.2;2.2;2.2	4.49	3.63	0.41609	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05914	0.0154	N	0.01482	-0.84	0.22468	N	0.99907	B	0.26258	0.145	B	0.26416	0.069	T	0.37731	-0.9693	9	0.02654	T	1	.	5.8202	0.18524	0.1902:0.7133:0.0:0.0965	.	422	Q8NB50	ZFP62_HUMAN	K	389;362;422	ENSP00000426193:E389K;ENSP00000352053:E362K;ENSP00000423820:E422K	ENSP00000352053:E362K	E	-	1	0	ZFP62	180209837	0.000000	0.05858	1.000000	0.80357	0.004000	0.04260	-0.324000	0.07986	1.493000	0.48517	-0.140000	0.14226	GAA	ZFP62	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196670		0.438	ZFP62-002	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ZFP62	HGNC	protein_coding	OTTHUMT00000368386.2	80	0.00	0	C	NM_152283		180277231	180277231	-1	no_errors	ENST00000512132	ensembl	human	known	69_37n	missense	53	30.26	23	SNP	0.991	T
ZFP62	643836	genome.wustl.edu	37	5	180277605	180277605	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:180277605C>G	ENST00000502412.1	-	2	947	c.890G>C	c.(889-891)aGg>aCg	p.R297T	ZFP62_ENST00000512132.1_Missense_Mutation_p.R264T|ZFP62_ENST00000506377.1_Intron|ZFP62_ENST00000359141.6_Missense_Mutation_p.R237T	NM_001172638.1	NP_001166109.1	Q8NB50	ZFP62_HUMAN	ZFP62 zinc finger protein	297					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|endometrium(2)|pancreas(1)	4	all_cancers(89;4.01e-05)|all_epithelial(37;4.69e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00469)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTTATGGACCCTAAGGCCAGA	0.478																																						dbGAP											0													86.0	80.0	82.0					5																	180277605		692	1591	2283	-	-	-	SO:0001583	missense	0			AK002206	CCDS47357.1, CCDS47357.2, CCDS54955.1	5q35.3	2013-01-08	2012-11-27			ENSG00000196670		"""Zinc fingers, C2H2-type"""	23241	protein-coding gene	gene with protein product		610281	"""zinc finger protein 62 homolog (mouse)"", ""zinc finger protein 62"""			8808410	Standard	NM_152283		Approved	FLJ34231, ZET, ZNF755	uc011dhf.2	Q8NB50		ENST00000502412.1:c.890G>C	5.37:g.180277605C>G	ENSP00000423820:p.Arg297Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DIP6|B4E0N3|B5MDX6|B7ZVZ2|B9EIP6|E9PFT8|J3QTA9	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R264T	ENST00000502412.1	37	c.791	CCDS54955.1	5	.	.	.	.	.	.	.	.	.	.	.	0.578	-0.838448	0.02692	.	.	ENSG00000196670	ENST00000512132;ENST00000359141;ENST00000502412;ENST00000405851	T;T;T	0.07800	3.16;3.16;3.16	4.07	4.07	0.47477	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06826	0.0174	N	0.21373	0.66	0.21290	N	0.999735	D	0.58620	0.983	P	0.49502	0.613	T	0.06303	-1.0834	9	0.02654	T	1	.	7.9211	0.29846	0.0:0.8914:0.0:0.1086	.	297	Q8NB50	ZFP62_HUMAN	T	264;237;297;91	ENSP00000426193:R264T;ENSP00000352053:R237T;ENSP00000423820:R297T	ENSP00000352053:R237T	R	-	2	0	ZFP62	180210211	0.000000	0.05858	1.000000	0.80357	0.816000	0.46133	-0.291000	0.08343	2.553000	0.86117	0.549000	0.68633	AGG	ZFP62	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196670		0.478	ZFP62-002	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ZFP62	HGNC	protein_coding	OTTHUMT00000368386.2	105	0.00	0	C	NM_152283		180277605	180277605	-1	no_errors	ENST00000512132	ensembl	human	known	69_37n	missense	81	22.86	24	SNP	0.941	G
ZFP90	146198	genome.wustl.edu	37	16	68598488	68598488	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:68598488C>T	ENST00000570495.1	+	5	2090	c.1798C>T	c.(1798-1800)Cag>Tag	p.Q600*	ZFP90_ENST00000563169.2_Nonsense_Mutation_p.Q600*|ZFP90_ENST00000398253.2_Nonsense_Mutation_p.Q600*			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	600					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)		GCATGATCATCAGAGAATTCA	0.408																																						dbGAP											0													110.0	123.0	118.0					16																	68598488		2148	4283	6431	-	-	-	SO:0001587	stop_gained	0			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.1798C>T	16.37:g.68598488C>T	ENSP00000460547:p.Gln600*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RU00|B3KVE7|Q49AD1|Q96MQ6	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.Q600*	ENST00000570495.1	37	c.1798	CCDS42183.1	16	.	.	.	.	.	.	.	.	.	.	C	36	5.928045	0.97110	.	.	ENSG00000184939	ENST00000398253	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-9.5868	13.1994	0.59758	0.0:0.8401:0.1599:0.0	.	.	.	.	X	600	.	ENSP00000381304:Q600X	Q	+	1	0	ZFP90	67155989	0.000000	0.05858	1.000000	0.80357	0.996000	0.88848	-0.022000	0.12480	2.833000	0.97629	0.555000	0.69702	CAG	ZFP90	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000184939		0.408	ZFP90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP90	HGNC	protein_coding	OTTHUMT00000436217.3	58	0.00	0	C	XM_085375		68598488	68598488	+1	no_errors	ENST00000398253	ensembl	human	known	69_37n	nonsense	41	18.00	9	SNP	1.000	T
ZFP91	80829	genome.wustl.edu	37	11	58385028	58385028	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:58385028G>A	ENST00000316059.6	+	11	1733	c.1562G>A	c.(1561-1563)aGt>aAt	p.S521N	ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.S521N	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	521					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein K63-linked ubiquitination (GO:0070534)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				TCATACTGCAGTGGGACGGAA	0.527																																						dbGAP											0													106.0	95.0	99.0					11																	58385028		2201	4295	6496	-	-	-	SO:0001583	missense	0			AB056107	CCDS31553.1	11q12	2012-11-27	2012-11-27		ENSG00000186660	ENSG00000186660		"""Zinc fingers, C2H2-type"""	14983	protein-coding gene	gene with protein product			"""zinc finger protein homologous to Zfp91 in mouse"", ""zinc finger protein 91 homolog (mouse)"""			12738986, 20682767	Standard	NM_053023		Approved	PZF, ZNF757	uc001nmx.4	Q96JP5	OTTHUMG00000137391	ENST00000316059.6:c.1562G>A	11.37:g.58385028G>A	ENSP00000339030:p.Ser521Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHC4|A8MSG7|Q86V47|Q96JP4|Q96QA3	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S521N	ENST00000316059.6	37	c.1562	CCDS31553.1	11	.	.	.	.	.	.	.	.	.	.	G	12.76	2.033549	0.35893	.	.	ENSG00000186660	ENST00000316059;ENST00000389918	T	0.10668	2.85	6.07	5.11	0.69529	.	0.283178	0.33419	N	0.004929	T	0.05640	0.0148	N	0.14661	0.345	0.24969	N	0.991679	B;B	0.32160	0.358;0.294	B;B	0.22601	0.04;0.038	T	0.26292	-1.0107	10	0.54805	T	0.06	-4.0735	7.9133	0.29803	0.0825:0.1626:0.755:0.0	.	521;521	Q96JP5-2;Q96JP5	.;ZFP91_HUMAN	N	521	ENSP00000339030:S521N	ENSP00000374569:S521N	S	+	2	0	ZFP91	58141604	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.650000	0.54424	2.885000	0.99019	0.655000	0.94253	AGT	ZFP91	-	NULL	ENSG00000186660		0.527	ZFP91-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP91	HGNC	protein_coding	OTTHUMT00000268674.1	70	0.00	0	G	NM_053023		58385028	58385028	+1	no_errors	ENST00000316059	ensembl	human	known	69_37n	missense	58	37.89	36	SNP	1.000	A
ZFR	51663	genome.wustl.edu	37	5	32364308	32364308	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:32364308C>G	ENST00000265069.8	-	18	3011	c.2909G>C	c.(2908-2910)aGa>aCa	p.R970T	ZFR_ENST00000510369.1_5'UTR	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	970	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		TTCAAAAACTCTTCTCAGTGC	0.348																																						dbGAP											0													83.0	88.0	86.0					5																	32364308		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.2909G>C	5.37:g.32364308C>G	ENSP00000265069:p.Arg970Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Missense_Mutation	SNP	pfam_DZF,pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF	p.R970T	ENST00000265069.8	37	c.2909	CCDS34139.1	5	.	.	.	.	.	.	.	.	.	.	C	20.3	3.959142	0.74016	.	.	ENSG00000056097	ENST00000265069;ENST00000382126	T	0.63417	-0.04	5.74	5.74	0.90152	DZF (2);	0.000000	0.85682	D	0.000000	D	0.84005	0.5377	M	0.89904	3.07	0.80722	D	1	D;D	0.62365	0.991;0.985	D;D	0.78314	0.991;0.977	D	0.86502	0.1804	10	0.87932	D	0	.	19.9357	0.97140	0.0:1.0:0.0:0.0	.	949;970	B5MEH6;Q96KR1	.;ZFR_HUMAN	T	970;949	ENSP00000265069:R970T	ENSP00000265069:R970T	R	-	2	0	ZFR	32400065	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.382000	0.79729	2.715000	0.92844	0.655000	0.94253	AGA	ZFR	-	pfam_DZF,smart_DZF	ENSG00000056097		0.348	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFR	HGNC	protein_coding	OTTHUMT00000366586.1	87	0.00	0	C			32364308	32364308	-1	no_errors	ENST00000265069	ensembl	human	known	69_37n	missense	44	22.81	13	SNP	1.000	G
ZFR2	23217	genome.wustl.edu	37	19	3813855	3813855	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:3813855G>C	ENST00000262961.4	-	14	2215	c.2205C>G	c.(2203-2205)acC>acG	p.T735T		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	735	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.						nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		TCAGAGGTGAGGTGACAGATA	0.617																																						dbGAP											0													94.0	106.0	102.0					19																	3813855		2105	4215	6320	-	-	-	SO:0001819	synonymous_variant	0			AB029009	CCDS45921.1, CCDS45922.1	19p13.3	2012-10-05	2008-03-25	2008-03-25	ENSG00000105278	ENSG00000105278			29189	protein-coding gene	gene with protein product			"""KIAA1086"""	KIAA1086		10470851	Standard	NM_015174		Approved		uc002lyw.2	Q9UPR6	OTTHUMG00000180918	ENST00000262961.4:c.2205C>G	19.37:g.3813855G>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_DZF,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF	p.T735	ENST00000262961.4	37	c.2205	CCDS45921.1	19																																																																																			ZFR2	-	pfam_DZF,smart_DZF	ENSG00000105278		0.617	ZFR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFR2	HGNC	protein_coding	OTTHUMT00000453648.2	54	0.00	0	G	NM_015174		3813855	3813855	-1	no_errors	ENST00000262961	ensembl	human	known	69_37n	silent	38	32.14	18	SNP	1.000	C
ZFX	7543	genome.wustl.edu	37	X	24197701	24197701	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:24197701G>A	ENST00000379177.1	+	6	887	c.460G>A	c.(460-462)Gaa>Aaa	p.E154K	ZFX_ENST00000304543.5_Missense_Mutation_p.E154K|ZFX_ENST00000379188.3_Missense_Mutation_p.E154K|ZFX_ENST00000338565.3_Missense_Mutation_p.E154K|ZFX_ENST00000540034.1_Missense_Mutation_p.E193K|ZFX_ENST00000459724.1_Intron|ZFX_ENST00000539115.1_Intron	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	154					death (GO:0016265)|fertilization (GO:0009566)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|parental behavior (GO:0060746)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						tggacatgttgaacatgtGGT	0.443																																					Esophageal Squamous(20;306 562 7346 32868 37983)	dbGAP											0													276.0	205.0	229.0					X																	24197701		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14211.1, CCDS55390.1	Xp22.1-p21.3	2013-01-08			ENSG00000005889	ENSG00000005889		"""Zinc fingers, C2H2-type"""	12869	protein-coding gene	gene with protein product		314980					Standard	NM_003410		Approved	ZNF926	uc022bua.1	P17010	OTTHUMG00000021264	ENST00000379177.1:c.460G>A	X.37:g.24197701G>A	ENSP00000368475:p.Glu154Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EG97|O43668|Q8WYJ8	Missense_Mutation	SNP	pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E193K	ENST00000379177.1	37	c.577	CCDS14211.1	X	.	.	.	.	.	.	.	.	.	.	G	26.8	4.771369	0.90108	.	.	ENSG00000005889	ENST00000379188;ENST00000536464;ENST00000379177;ENST00000304543;ENST00000540034;ENST00000338565	T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48	5.64	5.64	0.86602	Transcriptional activator, Zfx / Zfy domain (1);	0.082046	0.50627	D	0.000101	T	0.71099	0.3300	M	0.68593	2.085	0.80722	D	1	D;D;D;D	0.76494	0.997;0.999;0.979;0.999	D;D;D;D	0.85130	0.994;0.997;0.982;0.996	T	0.70872	-0.4754	9	.	.	.	0.7649	16.8478	0.85985	0.0:0.0:1.0:0.0	.	193;154;154;158	B9EG97;F5H6Z8;P17010;Q59EB9	.;.;ZFX_HUMAN;.	K	154;154;154;154;193;154	ENSP00000368486:E154K;ENSP00000368475:E154K;ENSP00000304985:E154K;ENSP00000441382:E193K;ENSP00000343384:E154K	.	E	+	1	0	ZFX	24107622	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.766000	0.74970	2.354000	0.79902	0.600000	0.82982	GAA	ZFX	-	pfam_Transcrp_activ_Zfx/Zfy-dom	ENSG00000005889		0.443	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFX	HGNC	protein_coding	OTTHUMT00000056084.1	115	0.00	0	G	NM_003410		24197701	24197701	+1	no_errors	ENST00000540034	ensembl	human	known	69_37n	missense	145	18.08	32	SNP	1.000	A
ZFYVE1	53349	genome.wustl.edu	37	14	73464634	73464634	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr14:73464634G>A	ENST00000556143.1	-	3	1593	c.873C>T	c.(871-873)ttC>ttT	p.F291F	ZFYVE1_ENST00000553891.1_Silent_p.F291F|ZFYVE1_ENST00000318876.5_Silent_p.F291F	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	291					negative regulation of phosphatase activity (GO:0010923)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|ER-mitochondrion membrane contact site (GO:0044233)|Golgi stack (GO:0005795)|perinuclear region of cytoplasm (GO:0048471)|pre-autophagosomal structure (GO:0000407)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		GCTCCTTGGTGAAGTGCTTCA	0.537																																						dbGAP											0													86.0	76.0	79.0					14																	73464634		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF251025	CCDS9811.1, CCDS41969.1, CCDS61498.1	14q24.2	2014-06-13	2003-02-28	2003-03-07		ENSG00000165861		"""Zinc fingers, FYVE domain containing"""	13180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 172"""	605471	"""zinc finger protein, subfamily 2A (FYVE domain containing), 1"""	ZNFN2A1		11024279, 11256955	Standard	NM_021260		Approved	DFCP1, KIAA1589, TAFF1, PPP1R172	uc001xnm.3	Q9HBF4		ENST00000556143.1:c.873C>T	14.37:g.73464634G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	J3KNL9|Q8WYX7|Q96K57|Q9BXP9|Q9HCI3	Silent	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,superfamily_Growth_fac_rcpt,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.F291	ENST00000556143.1	37	c.873	CCDS9811.1	14																																																																																			ZFYVE1	-	superfamily_Growth_fac_rcpt	ENSG00000165861		0.537	ZFYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE1	HGNC	protein_coding	OTTHUMT00000413172.1	62	0.00	0	G	NM_021260		73464634	73464634	-1	no_errors	ENST00000553891	ensembl	human	known	69_37n	silent	22	56.86	29	SNP	0.996	A
ZFYVE20	64145	genome.wustl.edu	37	3	15115954	15115954	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:15115954C>G	ENST00000253699.3	-	14	2303	c.1690G>C	c.(1690-1692)Gag>Cag	p.E564Q	ZFYVE20_ENST00000476527.2_Missense_Mutation_p.E564Q	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	564	Necessary for the interaction with EHD1.				blood coagulation (GO:0007596)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	endosome (GO:0005768)|endosome membrane (GO:0010008)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						GTGCGAGGCTCTCTGCTGGGC	0.572																																						dbGAP											0													55.0	54.0	54.0					3																	15115954		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY009133	CCDS2623.1	3p25.1	2014-01-15			ENSG00000131381	ENSG00000131381		"""Zinc fingers, FYVE domain containing"""	20759	protein-coding gene	gene with protein product		609511				11062261	Standard	XR_427283		Approved	Rabenosyn-5	uc003bzm.1	Q9H1K0	OTTHUMG00000129860	ENST00000253699.3:c.1690G>C	3.37:g.15115954C>G	ENSP00000253699:p.Glu564Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DWY8|C9J4P5|Q3KP30|Q59EY8|Q8NAQ1	Missense_Mutation	SNP	pfam_Rbsn,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2	p.E564Q	ENST00000253699.3	37	c.1690	CCDS2623.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.90|11.90	1.778089|1.778089	0.31502|0.31502	.|.	.|.	ENSG00000131381|ENSG00000131381	ENST00000253699;ENST00000476527|ENST00000418832	T;T|.	0.53640|.	0.61;0.61|.	5.04|5.04	5.04|5.04	0.67666|0.67666	.|.	0.275032|.	0.36444|.	N|.	0.002584|.	T|T	0.67655|0.67655	0.2916|0.2916	L|L	0.47716|0.47716	1.5|1.5	0.54753|0.54753	D|D	0.999981|0.999981	B|.	0.13594|.	0.008|.	B|.	0.12156|.	0.007|.	T|T	0.66544|0.66544	-0.5897|-0.5897	10|6	0.49607|0.39692	T|T	0.09|0.17	-11.5259|-11.5259	16.1687|16.1687	0.81788|0.81788	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	564|.	Q9H1K0|.	RBNS5_HUMAN|.	Q|T	564|118	ENSP00000253699:E564Q;ENSP00000422551:E564Q|.	ENSP00000253699:E564Q|ENSP00000389567:R118T	E|R	-|-	1|2	0|0	ZFYVE20|ZFYVE20	15090958|15090958	0.023000|0.023000	0.18921|0.18921	0.827000|0.827000	0.32855|0.32855	0.578000|0.578000	0.36192|0.36192	1.439000|1.439000	0.35013|0.35013	2.343000|2.343000	0.79666|0.79666	0.491000|0.491000	0.48974|0.48974	GAG|AGA	ZFYVE20	-	NULL	ENSG00000131381		0.572	ZFYVE20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE20	HGNC	protein_coding	OTTHUMT00000252102.2	51	0.00	0	C	NM_022340		15115954	15115954	-1	no_errors	ENST00000253699	ensembl	human	known	69_37n	missense	64	15.79	12	SNP	0.101	G
ZFYVE20	64145	genome.wustl.edu	37	3	15116191	15116191	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:15116191G>A	ENST00000253699.3	-	14	2066	c.1453C>T	c.(1453-1455)Ctg>Ttg	p.L485L	ZFYVE20_ENST00000476527.2_Silent_p.L485L	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	485	Necessary for the interaction with EHD1.|Necessary for the interaction with RAB4A.				blood coagulation (GO:0007596)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	endosome (GO:0005768)|endosome membrane (GO:0010008)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						TTCTCCTGCAGAGTGCGCACT	0.617																																						dbGAP											0													81.0	77.0	78.0					3																	15116191		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY009133	CCDS2623.1	3p25.1	2014-01-15			ENSG00000131381	ENSG00000131381		"""Zinc fingers, FYVE domain containing"""	20759	protein-coding gene	gene with protein product		609511				11062261	Standard	XR_427283		Approved	Rabenosyn-5	uc003bzm.1	Q9H1K0	OTTHUMG00000129860	ENST00000253699.3:c.1453C>T	3.37:g.15116191G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DWY8|C9J4P5|Q3KP30|Q59EY8|Q8NAQ1	Silent	SNP	pfam_Rbsn,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2	p.L485	ENST00000253699.3	37	c.1453	CCDS2623.1	3																																																																																			ZFYVE20	-	pfam_Rbsn	ENSG00000131381		0.617	ZFYVE20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE20	HGNC	protein_coding	OTTHUMT00000252102.2	41	0.00	0	G	NM_022340		15116191	15116191	-1	no_errors	ENST00000253699	ensembl	human	known	69_37n	silent	54	20.59	14	SNP	0.994	A
ZFYVE20	64145	genome.wustl.edu	37	3	15122259	15122259	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:15122259G>A	ENST00000253699.3	-	10	1504	c.891C>T	c.(889-891)atC>atT	p.I297I	ZFYVE20_ENST00000435849.3_3'UTR|ZFYVE20_ENST00000449964.2_5'UTR|ZFYVE20_ENST00000476527.2_Silent_p.I297I	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	297	Necessary for the interaction with EHD1.|Necessary for the interaction with RAB4A.				blood coagulation (GO:0007596)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	endosome (GO:0005768)|endosome membrane (GO:0010008)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						CTGCCATCCTGATGTATTCTG	0.368																																						dbGAP											0													208.0	208.0	208.0					3																	15122259		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY009133	CCDS2623.1	3p25.1	2014-01-15			ENSG00000131381	ENSG00000131381		"""Zinc fingers, FYVE domain containing"""	20759	protein-coding gene	gene with protein product		609511				11062261	Standard	XR_427283		Approved	Rabenosyn-5	uc003bzm.1	Q9H1K0	OTTHUMG00000129860	ENST00000253699.3:c.891C>T	3.37:g.15122259G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DWY8|C9J4P5|Q3KP30|Q59EY8|Q8NAQ1	Missense_Mutation	SNP	NULL	p.S42L	ENST00000253699.3	37	c.125	CCDS2623.1	3																																																																																			ZFYVE20	-	NULL	ENSG00000131381		0.368	ZFYVE20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE20	HGNC	protein_coding	OTTHUMT00000252102.2	170	0.00	0	G	NM_022340		15122259	15122259	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000426541	ensembl	human	known	69_37n	missense	157	16.40	31	SNP	0.996	A
ZFYVE20	64145	genome.wustl.edu	37	3	15137411	15137411	+	Intron	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:15137411G>A	ENST00000253699.3	-	4	762				ZFYVE20_ENST00000435849.3_Intron|ZFYVE20_ENST00000449964.2_Intron|ZFYVE20_ENST00000449050.1_Nonsense_Mutation_p.Q73*|ZFYVE20_ENST00000476527.2_Intron	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20						blood coagulation (GO:0007596)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	endosome (GO:0005768)|endosome membrane (GO:0010008)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						CACCAAAGCTGATGAGAACTA	0.438																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AY009133	CCDS2623.1	3p25.1	2014-01-15			ENSG00000131381	ENSG00000131381		"""Zinc fingers, FYVE domain containing"""	20759	protein-coding gene	gene with protein product		609511				11062261	Standard	XR_427283		Approved	Rabenosyn-5	uc003bzm.1	Q9H1K0	OTTHUMG00000129860	ENST00000253699.3:c.148+68C>T	3.37:g.15137411G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DWY8|C9J4P5|Q3KP30|Q59EY8|Q8NAQ1	Nonsense_Mutation	SNP	pfscan_Znf_C2H2	p.Q73*	ENST00000253699.3	37	c.217	CCDS2623.1	3	.	.	.	.	.	.	.	.	.	.	G	17.04	3.288113	0.59976	.	.	ENSG00000131381	ENST00000449050	.	.	.	3.8	-3.63	0.04529	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	0.3961	0.00418	0.2143:0.2769:0.2111:0.2977	.	.	.	.	X	73	.	ENSP00000387724:Q73X	Q	-	1	0	ZFYVE20	15112415	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.222000	0.02965	-0.798000	0.04444	-0.516000	0.04426	CAG	ZFYVE20	-	NULL	ENSG00000131381		0.438	ZFYVE20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE20	HGNC	protein_coding	OTTHUMT00000252102.2	99	0.00	0	G	NM_022340		15137411	15137411	-1	no_errors	ENST00000449050	ensembl	human	putative	69_37n	nonsense	146	17.51	31	SNP	0.000	A
ZFYVE9	9372	genome.wustl.edu	37	1	52729509	52729509	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:52729509G>C	ENST00000371591.1	+	4	2374	c.2243G>C	c.(2242-2244)aGa>aCa	p.R748T	ZFYVE9_ENST00000287727.3_Missense_Mutation_p.R748T|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.R748T	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	748					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						AAGGAAGCTAGAGTGTGTGTA	0.408																																						dbGAP											0													87.0	87.0	87.0					1																	52729509		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"""Zinc fingers, FYVE domain containing"""	6775	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 173"""	603755	"""MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"""	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.2243G>C	1.37:g.52729509G>C	ENSP00000360647:p.Arg748Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP	pfam_DUF3480,pfam_SARA_Smad-bd,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel	p.R748T	ENST00000371591.1	37	c.2243	CCDS563.1	1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.955417	0.92726	.	.	ENSG00000157077	ENST00000357206;ENST00000361625;ENST00000287727;ENST00000371591	T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49	5.17	5.17	0.71159	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.64402	D	0.000001	D	0.94807	0.8323	H	0.99444	4.57	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.994;0.999	D	0.97054	0.9766	10	0.87932	D	0	.	18.8558	0.92251	0.0:0.0:1.0:0.0	.	748;748;748	O95405-2;O95405;O95405-3	.;ZFYV9_HUMAN;.	T	748	ENSP00000349737:R748T;ENSP00000355358:R748T;ENSP00000287727:R748T;ENSP00000360647:R748T	ENSP00000287727:R748T	R	+	2	0	ZFYVE9	52502097	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.418000	0.97395	2.683000	0.91414	0.655000	0.94253	AGA	ZFYVE9	-	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel	ENSG00000157077		0.408	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE9	HGNC	protein_coding	OTTHUMT00000022083.1	71	0.00	0	G	NM_007324		52729509	52729509	+1	no_errors	ENST00000287727	ensembl	human	known	69_37n	missense	46	22.03	13	SNP	1.000	C
ZHX2	22882	genome.wustl.edu	37	8	123963898	123963898	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:123963898G>A	ENST00000314393.4	+	3	983	c.148G>A	c.(148-150)Gaa>Aaa	p.E50K		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	50					mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			TTGGGCAGCAGAACTTGAAAA	0.473																																					Esophageal Squamous(94;1056 1388 11767 13799 49639)	dbGAP											0													75.0	66.0	69.0					8																	123963898		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	18513	protein-coding gene	gene with protein product		609185	"""zinc-fingers and homeoboxes 2"""			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.148G>A	8.37:g.123963898G>A	ENSP00000314709:p.Glu50Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.E50K	ENST00000314393.4	37	c.148	CCDS6336.1	8	.	.	.	.	.	.	.	.	.	.	G	10.86	1.469849	0.26423	.	.	ENSG00000178764	ENST00000314393	T	0.48836	0.8	5.52	5.52	0.82312	.	0.870880	0.10161	N	0.708260	T	0.49184	0.1542	M	0.68593	2.085	0.09310	N	1	B	0.27498	0.18	B	0.24155	0.051	T	0.44298	-0.9337	10	0.17369	T	0.5	-10.0739	16.9156	0.86150	0.0:0.0:1.0:0.0	.	50	Q9Y6X8	ZHX2_HUMAN	K	50	ENSP00000314709:E50K	ENSP00000314709:E50K	E	+	1	0	ZHX2	124033079	0.966000	0.33281	0.945000	0.38365	0.986000	0.74619	4.027000	0.57239	2.600000	0.87896	0.555000	0.69702	GAA	ZHX2	-	NULL	ENSG00000178764		0.473	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZHX2	HGNC	protein_coding	OTTHUMT00000381709.1	27	0.00	0	G	NM_014943		123963898	123963898	+1	no_errors	ENST00000314393	ensembl	human	known	69_37n	missense	56	17.65	12	SNP	0.075	A
ZHX2	22882	genome.wustl.edu	37	8	123963911	123963911	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:123963911C>G	ENST00000314393.4	+	3	996	c.161C>G	c.(160-162)tCt>tGt	p.S54C		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	54					mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.S54F(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CTTGAAAACTCTTCCAAAGAA	0.498																																					Esophageal Squamous(94;1056 1388 11767 13799 49639)	dbGAP											1	Substitution - Missense(1)	breast(1)											71.0	64.0	66.0					8																	123963911		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	18513	protein-coding gene	gene with protein product		609185	"""zinc-fingers and homeoboxes 2"""			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.161C>G	8.37:g.123963911C>G	ENSP00000314709:p.Ser54Cys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.S54C	ENST00000314393.4	37	c.161	CCDS6336.1	8	.	.	.	.	.	.	.	.	.	.	C	13.44	2.237464	0.39498	.	.	ENSG00000178764	ENST00000314393	T	0.54279	0.58	4.86	4.86	0.63082	.	0.789057	0.11965	N	0.512338	T	0.55369	0.1916	L	0.55481	1.735	0.46416	D	0.99903	P	0.36990	0.577	B	0.38954	0.286	T	0.57323	-0.7831	10	0.48119	T	0.1	-0.4651	18.172	0.89749	0.0:1.0:0.0:0.0	.	54	Q9Y6X8	ZHX2_HUMAN	C	54	ENSP00000314709:S54C	ENSP00000314709:S54C	S	+	2	0	ZHX2	124033092	1.000000	0.71417	0.942000	0.38095	0.985000	0.73830	4.938000	0.63519	2.531000	0.85337	0.455000	0.32223	TCT	ZHX2	-	NULL	ENSG00000178764		0.498	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZHX2	HGNC	protein_coding	OTTHUMT00000381709.1	31	0.00	0	C	NM_014943		123963911	123963911	+1	no_errors	ENST00000314393	ensembl	human	known	69_37n	missense	45	31.82	21	SNP	0.998	G
ZHX2	22882	genome.wustl.edu	37	8	123964308	123964308	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:123964308C>T	ENST00000314393.4	+	3	1393	c.558C>T	c.(556-558)atC>atT	p.I186I		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	186					mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			AAACCCCCATCATGAAGCCTG	0.567																																					Esophageal Squamous(94;1056 1388 11767 13799 49639)	dbGAP											0													120.0	128.0	125.0					8																	123964308		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	18513	protein-coding gene	gene with protein product		609185	"""zinc-fingers and homeoboxes 2"""			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.558C>T	8.37:g.123964308C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.I186	ENST00000314393.4	37	c.558	CCDS6336.1	8																																																																																			ZHX2	-	NULL	ENSG00000178764		0.567	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZHX2	HGNC	protein_coding	OTTHUMT00000381709.1	75	0.00	0	C	NM_014943		123964308	123964308	+1	no_errors	ENST00000314393	ensembl	human	known	69_37n	silent	88	21.43	24	SNP	0.997	T
ZHX3	23051	genome.wustl.edu	37	20	39832166	39832166	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:39832166G>C	ENST00000309060.3	-	4	1806	c.1391C>G	c.(1390-1392)tCa>tGa	p.S464*	ZHX3_ENST00000432768.2_Nonsense_Mutation_p.S464*|ZHX3_ENST00000560361.1_Nonsense_Mutation_p.S464*|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000540170.1_Nonsense_Mutation_p.S464*|ZHX3_ENST00000544979.2_Nonsense_Mutation_p.S464*|ZHX3_ENST00000559234.1_Nonsense_Mutation_p.S464*			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	464	Required for homodimerization and interaction with NFYA.|Required for repressor activity.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				CGTTGTATTTGAACACACAGT	0.562																																						dbGAP											0													66.0	52.0	56.0					20																	39832166		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	15935	protein-coding gene	gene with protein product		609598	"""triple homeobox 1"""	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.1391C>G	20.37:g.39832166G>C	ENSP00000312222:p.Ser464*	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P5W5|F5H820|O43145|Q6NUJ7	Nonsense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain	p.S464*	ENST00000309060.3	37	c.1391	CCDS13315.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	8.529548|8.529548	0.98850|0.98850	.|.	.|.	ENSG00000174306|ENSG00000174306	ENST00000421422|ENST00000309060;ENST00000373263;ENST00000540170;ENST00000544979;ENST00000373262;ENST00000432768	.|.	.|.	.|.	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	.|0.486801	.|0.22408	.|N	.|0.060451	T|.	0.42787|.	0.1218|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.43327|.	-0.9398|.	3|.	.|0.09338	.|T	.|0.73	-9.4477|-9.4477	12.7862|12.7862	0.57507|0.57507	0.0747:0.0:0.9253:0.0|0.0747:0.0:0.9253:0.0	.|.	.|.	.|.	.|.	L|X	172|464;464;464;464;242;464	.|.	.|ENSP00000312222:S464X	F|S	-|-	3|2	2|0	ZHX3|ZHX3	39265580|39265580	1.000000|1.000000	0.71417|0.71417	0.946000|0.946000	0.38457|0.38457	0.992000|0.992000	0.81027|0.81027	5.684000|5.684000	0.68197|0.68197	2.815000|2.815000	0.96918|0.96918	0.561000|0.561000	0.74099|0.74099	TTC|TCA	ZHX3	-	NULL	ENSG00000174306		0.562	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZHX3	HGNC	protein_coding	OTTHUMT00000079262.3	55	0.00	0	G	NM_015035		39832166	39832166	-1	no_errors	ENST00000373263	ensembl	human	known	69_37n	nonsense	83	12.63	12	SNP	0.984	C
ZIM3	114026	genome.wustl.edu	37	19	57646297	57646297	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:57646297G>A	ENST00000269834.1	-	5	1793	c.1408C>T	c.(1408-1410)Cac>Tac	p.H470Y	U3_ENST00000516874.1_RNA	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	470					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(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TATCTGGAGTGAATTCTTTTC	0.428																																						dbGAP											0													104.0	104.0	104.0					19																	57646297		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF365931	CCDS33125.1	19q13.4	2013-01-08				ENSG00000141946		"""Zinc fingers, C2H2-type"", ""-"""	16366	protein-coding gene	gene with protein product							Standard	NM_052882		Approved	ZNF657	uc002qnz.1	Q96PE6		ENST00000269834.1:c.1408C>T	19.37:g.57646297G>A	ENSP00000269834:p.His470Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CA6	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.H470Y	ENST00000269834.1	37	c.1408	CCDS33125.1	19	.	.	.	.	.	.	.	.	.	.	G	13.45	2.239506	0.39598	.	.	ENSG00000141946	ENST00000269834	T	0.10099	2.91	2.27	1.23	0.21249	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19208	0.0461	M	0.88704	2.975	0.24308	N	0.995094	P	0.49635	0.926	P	0.45071	0.468	T	0.16012	-1.0417	9	0.87932	D	0	.	4.8655	0.13606	0.1795:0.0:0.8205:0.0	.	470	Q96PE6	ZIM3_HUMAN	Y	470	ENSP00000269834:H470Y	ENSP00000269834:H470Y	H	-	1	0	ZIM3	62338109	0.998000	0.40836	0.134000	0.22075	0.408000	0.30992	3.291000	0.51764	0.518000	0.28383	0.313000	0.20887	CAC	ZIM3	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000141946		0.428	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIM3	HGNC	protein_coding	OTTHUMT00000465078.1	123	0.00	0	G			57646297	57646297	-1	no_errors	ENST00000269834	ensembl	human	known	69_37n	missense	77	25.96	27	SNP	0.993	A
ZIM3	114026	genome.wustl.edu	37	19	57646979	57646979	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:57646979C>G	ENST00000269834.1	-	5	1111	c.726G>C	c.(724-726)caG>caC	p.Q242H	U3_ENST00000516874.1_RNA	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	242					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(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TATGCATTTTCTGATGTTGAA	0.378																																						dbGAP											0													123.0	122.0	122.0					19																	57646979		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF365931	CCDS33125.1	19q13.4	2013-01-08				ENSG00000141946		"""Zinc fingers, C2H2-type"", ""-"""	16366	protein-coding gene	gene with protein product							Standard	NM_052882		Approved	ZNF657	uc002qnz.1	Q96PE6		ENST00000269834.1:c.726G>C	19.37:g.57646979C>G	ENSP00000269834:p.Gln242His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CA6	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.Q242H	ENST00000269834.1	37	c.726	CCDS33125.1	19	.	.	.	.	.	.	.	.	.	.	C	6.555	0.470598	0.12461	.	.	ENSG00000141946	ENST00000269834	T	0.07567	3.18	2.53	1.47	0.22746	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22551	0.0544	M	0.72353	2.195	0.26272	N	0.978402	D	0.76494	0.999	D	0.80764	0.994	T	0.02909	-1.1095	9	0.52906	T	0.07	.	6.9058	0.24309	0.0:0.8393:0.0:0.1607	.	242	Q96PE6	ZIM3_HUMAN	H	242	ENSP00000269834:Q242H	ENSP00000269834:Q242H	Q	-	3	2	ZIM3	62338791	0.000000	0.05858	0.743000	0.31040	0.037000	0.13140	-0.166000	0.09954	1.392000	0.46585	0.313000	0.20887	CAG	ZIM3	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000141946		0.378	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIM3	HGNC	protein_coding	OTTHUMT00000465078.1	122	0.00	0	C			57646979	57646979	-1	no_errors	ENST00000269834	ensembl	human	known	69_37n	missense	94	18.97	22	SNP	0.999	G
ZIK1	284307	genome.wustl.edu	37	19	58102389	58102389	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:58102389G>C	ENST00000597850.1	+	4	1425	c.1210G>C	c.(1210-1212)Gaa>Caa	p.E404Q	ZIK1_ENST00000307468.4_3'UTR|ZIK1_ENST00000536878.2_Missense_Mutation_p.E391Q|ZIK1_ENST00000599456.1_Missense_Mutation_p.E349Q	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	404					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)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TCACACTGGAGAAAGGCCTTA	0.443																																						dbGAP											0													64.0	61.0	62.0					19																	58102389		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK092538	CCDS33135.1	19q13.43	2013-01-08	2012-12-07		ENSG00000171649	ENSG00000171649		"""Zinc fingers, C2H2-type"", ""-"""	33104	protein-coding gene	gene with protein product			"""zinc finger protein interacting with K protein 1 homolog (mouse)"""				Standard	XM_005258769		Approved	ZNF762	uc002qpg.3	Q3SY52		ENST00000597850.1:c.1210G>C	19.37:g.58102389G>C	ENSP00000472867:p.Glu404Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O43339|Q3SY51|Q3SY53	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.E404Q	ENST00000597850.1	37	c.1210	CCDS33135.1	19	.	.	.	.	.	.	.	.	.	.	G	17.42	3.384532	0.61845	.	.	ENSG00000171649	ENST00000536878;ENST00000356724;ENST00000307468	T	0.25912	1.77	3.36	1.12	0.20585	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39759	0.1090	L	0.56280	1.765	0.33268	D	0.560618	D;D	0.71674	0.998;0.997	D;P	0.79108	0.992;0.812	T	0.49908	-0.8889	9	0.66056	D	0.02	.	6.6498	0.22955	0.101:0.0:0.7222:0.1767	.	391;404	F5H435;Q3SY52	.;ZIK1_HUMAN	Q	391;357;404	ENSP00000438487:E391Q	ENSP00000303820:E404Q	E	+	1	0	ZIK1	62794201	0.993000	0.37304	0.220000	0.23810	0.950000	0.60333	3.934000	0.56553	0.236000	0.21180	-0.188000	0.12872	GAA	ZIK1	-	pfscan_Znf_C2H2	ENSG00000171649		0.443	ZIK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZIK1	HGNC	protein_coding	OTTHUMT00000466791.1	92	0.00	0	G	NM_001010879		58102389	58102389	+1	no_errors	ENST00000307468	ensembl	human	known	69_37n	missense	60	27.71	23	SNP	1.000	C
ZKSCAN5	23660	genome.wustl.edu	37	7	99103676	99103676	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:99103676G>A	ENST00000394170.2	+	2	260	c.9G>A	c.(7-9)atG>atA	p.M3I	ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.M3I|ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.M3I	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	3					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)			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GAATGATAATGACCGAATCCC	0.448																																						dbGAP											0													79.0	81.0	80.0					7																	99103676		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF170025	CCDS5667.1	7q22	2013-01-09	2007-02-20	2007-02-20	ENSG00000196652	ENSG00000196652		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12867	protein-coding gene	gene with protein product		611272	"""zinc finger protein homologous to Zfp95 in mouse"", ""zinc finger protein 95 homolog (mouse)"""	ZFP95		10585779	Standard	NM_014569		Approved	ZNF914, ZSCAN37	uc003uqv.3	Q9Y2L8	OTTHUMG00000156749	ENST00000394170.2:c.9G>A	7.37:g.99103676G>A	ENSP00000377725:p.Met3Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D280|D6W5S9	Missense_Mutation	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.M3I	ENST00000394170.2	37	c.9	CCDS5667.1	7	.	.	.	.	.	.	.	.	.	.	G	16.39	3.109084	0.56398	.	.	ENSG00000196652	ENST00000537357;ENST00000326775;ENST00000451158;ENST00000394170	T;T;T	0.04317	3.65;3.65;3.65	4.93	3.99	0.46301	.	0.307283	0.28760	N	0.014239	T	0.06962	0.0177	M	0.71871	2.18	0.28894	N	0.89367	B;B	0.30914	0.3;0.3	B;B	0.26094	0.039;0.066	T	0.03840	-1.0999	10	0.41790	T	0.15	.	10.0707	0.42330	0.0:0.0:0.7998:0.2002	.	3;3	Q8N718;Q9Y2L8	.;ZKSC5_HUMAN	I	3	ENSP00000322872:M3I;ENSP00000392104:M3I;ENSP00000377725:M3I	ENSP00000322872:M3I	M	+	3	0	ZKSCAN5	98941612	1.000000	0.71417	1.000000	0.80357	0.383000	0.30230	2.744000	0.47450	2.735000	0.93741	0.561000	0.74099	ATG	ZKSCAN5	-	NULL	ENSG00000196652		0.448	ZKSCAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZKSCAN5	HGNC	protein_coding	OTTHUMT00000345597.1	50	0.00	0	G	NM_014569		99103676	99103676	+1	no_errors	ENST00000326775	ensembl	human	known	69_37n	missense	36	10.00	4	SNP	1.000	A
ZKSCAN5	23660	genome.wustl.edu	37	7	99129216	99129216	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:99129216C>G	ENST00000394170.2	+	7	2115	c.1864C>G	c.(1864-1866)Cag>Gag	p.Q622E	ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.Q622E|ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.Q622E	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	622					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)			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CCACCTTGTTCAGCATCAGAG	0.562																																						dbGAP											0													76.0	68.0	70.0					7																	99129216		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF170025	CCDS5667.1	7q22	2013-01-09	2007-02-20	2007-02-20	ENSG00000196652	ENSG00000196652		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12867	protein-coding gene	gene with protein product		611272	"""zinc finger protein homologous to Zfp95 in mouse"", ""zinc finger protein 95 homolog (mouse)"""	ZFP95		10585779	Standard	NM_014569		Approved	ZNF914, ZSCAN37	uc003uqv.3	Q9Y2L8	OTTHUMG00000156749	ENST00000394170.2:c.1864C>G	7.37:g.99129216C>G	ENSP00000377725:p.Gln622Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D280|D6W5S9	Missense_Mutation	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.Q622E	ENST00000394170.2	37	c.1864	CCDS5667.1	7	.	.	.	.	.	.	.	.	.	.	C	15.16	2.750972	0.49257	.	.	ENSG00000196652	ENST00000537357;ENST00000326775;ENST00000451158;ENST00000394170	T;T;T	0.06608	3.28;3.28;3.28	5.23	5.23	0.72850	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.52532	D	0.000072	T	0.03827	0.0108	N	0.16656	0.425	0.26862	N	0.967939	B;B	0.14012	0.009;0.009	B;B	0.16289	0.015;0.015	T	0.40608	-0.9554	10	0.02654	T	1	.	12.2416	0.54546	0.0:0.8292:0.1708:0.0	.	622;622	Q8N718;Q9Y2L8	.;ZKSC5_HUMAN	E	622	ENSP00000322872:Q622E;ENSP00000392104:Q622E;ENSP00000377725:Q622E	ENSP00000322872:Q622E	Q	+	1	0	ZKSCAN5	98967152	0.000000	0.05858	1.000000	0.80357	0.997000	0.91878	-0.030000	0.12308	2.894000	0.99253	0.591000	0.81541	CAG	ZKSCAN5	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196652		0.562	ZKSCAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZKSCAN5	HGNC	protein_coding	OTTHUMT00000345597.1	63	0.00	0	C	NM_014569		99129216	99129216	+1	no_errors	ENST00000326775	ensembl	human	known	69_37n	missense	62	22.50	18	SNP	0.865	G
ZMYM1	79830	genome.wustl.edu	37	1	35559682	35559682	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:35559682C>G	ENST00000373330.1	+	3	268	c.94C>G	c.(94-96)Caa>Gaa	p.Q32E	ZMYM1_ENST00000373329.1_Intron|ZMYM1_ENST00000359858.4_Missense_Mutation_p.Q32E			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	32						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CGACAATGCTCAAGTAAATAT	0.358																																						dbGAP											0													75.0	77.0	76.0					1																	35559682		1858	4106	5964	-	-	-	SO:0001583	missense	0			AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"""Zinc fingers, MYM type"""	26253	protein-coding gene	gene with protein product			"""zinc finger, MYM domain containing 1"""			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.94C>G	1.37:g.35559682C>G	ENSP00000362427:p.Gln32Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPR7|Q7Z3Q4	Missense_Mutation	SNP	pfam_Znf_MYM,pfam_HATC,superfamily_RNaseH-like_dom,smart_TRASH	p.Q32E	ENST00000373330.1	37	c.94	CCDS41302.1	1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.630541	0.46944	.	.	ENSG00000197056	ENST00000417119;ENST00000359858;ENST00000373330	T;T;T	0.17213	2.29;2.59;2.59	5.2	5.2	0.72013	.	0.174950	0.27936	N	0.017257	T	0.14874	0.0359	L	0.39020	1.185	0.29715	N	0.83914	B;B;B	0.28713	0.112;0.134;0.22	B;B;B	0.26864	0.035;0.03;0.074	T	0.05099	-1.0906	10	0.49607	T	0.09	-2.7668	12.7963	0.57560	0.0:0.7876:0.2124:0.0	.	32;32;32	B4DSJ9;Q5SVZ6;Q5SVZ7	.;ZMYM1_HUMAN;.	E	32	ENSP00000394233:Q32E;ENSP00000352920:Q32E;ENSP00000362427:Q32E	ENSP00000352920:Q32E	Q	+	1	0	ZMYM1	35332269	1.000000	0.71417	0.991000	0.47740	0.482000	0.33219	3.485000	0.53208	2.861000	0.98227	0.655000	0.94253	CAA	ZMYM1	-	NULL	ENSG00000197056		0.358	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZMYM1	HGNC	protein_coding	OTTHUMT00000012705.1	77	0.00	0	C	NM_024772		35559682	35559682	+1	no_errors	ENST00000359858	ensembl	human	known	69_37n	missense	33	32.65	16	SNP	1.000	G
ZMYM1	79830	genome.wustl.edu	37	1	35579217	35579217	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:35579217G>C	ENST00000373330.1	+	11	1960	c.1786G>C	c.(1786-1788)Gat>Cat	p.D596H	ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Missense_Mutation_p.D596H			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	596						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GAGAGCAAAAGATAAAGGAGA	0.308																																						dbGAP											0													43.0	42.0	42.0					1																	35579217		1813	4062	5875	-	-	-	SO:0001583	missense	0			AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"""Zinc fingers, MYM type"""	26253	protein-coding gene	gene with protein product			"""zinc finger, MYM domain containing 1"""			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.1786G>C	1.37:g.35579217G>C	ENSP00000362427:p.Asp596His	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPR7|Q7Z3Q4	Missense_Mutation	SNP	pfam_Znf_MYM,pfam_HATC,superfamily_RNaseH-like_dom,smart_TRASH	p.D596H	ENST00000373330.1	37	c.1786	CCDS41302.1	1	.	.	.	.	.	.	.	.	.	.	G	5.318	0.243944	0.10077	.	.	ENSG00000197056	ENST00000359858;ENST00000373329;ENST00000373330	T;T;T	0.19806	2.38;2.12;2.38	4.53	2.67	0.31697	.	0.262518	0.27509	N	0.019048	T	0.33760	0.0874	L	0.53780	1.695	0.28745	N	0.901776	D;P	0.89917	1.0;0.552	D;B	0.91635	0.999;0.273	T	0.07328	-1.0778	9	.	.	.	-22.012	4.8873	0.13710	0.1881:0.1755:0.6364:0.0	.	577;596	B4DSJ9;Q5SVZ6	.;ZMYM1_HUMAN	H	596;521;596	ENSP00000352920:D596H;ENSP00000362426:D521H;ENSP00000362427:D596H	.	D	+	1	0	ZMYM1	35351804	1.000000	0.71417	0.996000	0.52242	0.074000	0.17049	2.058000	0.41374	0.842000	0.35045	-0.150000	0.13652	GAT	ZMYM1	-	NULL	ENSG00000197056		0.308	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZMYM1	HGNC	protein_coding	OTTHUMT00000012705.1	24	0.00	0	G	NM_024772		35579217	35579217	+1	no_errors	ENST00000359858	ensembl	human	known	69_37n	missense	22	26.67	8	SNP	0.997	C
ZMYM5	9205	genome.wustl.edu	37	13	20425978	20425978	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr13:20425978C>T	ENST00000337963.4	-	3	607	c.343G>A	c.(343-345)Gag>Aag	p.E115K	ZMYM5_ENST00000382905.4_Missense_Mutation_p.E115K|ZMYM5_ENST00000382907.4_Missense_Mutation_p.E115K	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	115						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		ACAATTGTCTCACTTATATTT	0.348																																						dbGAP											0													64.0	67.0	66.0					13																	20425978		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF161535	CCDS31942.1, CCDS31943.1	13q12	2013-01-08	2005-09-12	2005-09-12	ENSG00000132950	ENSG00000132950		"""Zinc fingers, MYM type"""	13029	protein-coding gene	gene with protein product			"""zinc finger protein 237"""	ZNF237			Standard	NM_001039650		Approved	ZNF198L1, MYM	uc010tcn.1	Q9UJ78	OTTHUMG00000016504	ENST00000337963.4:c.343G>A	13.37:g.20425978C>T	ENSP00000337034:p.Glu115Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6V1|Q5T6E1|Q5T6E2|Q5T6E4|Q96IY6|Q9NZY5|Q9UBW0|Q9UJ77	Missense_Mutation	SNP	pfam_Znf_MYM,smart_TRASH	p.E115K	ENST00000337963.4	37	c.343		13	.	.	.	.	.	.	.	.	.	.	C	22.1	4.238643	0.79800	.	.	ENSG00000132950	ENST00000337963;ENST00000502168;ENST00000382907;ENST00000382905	T;T;T;T	0.33438	1.41;1.41;1.41;1.41	4.5	4.5	0.54988	.	.	.	.	.	T	0.57873	0.2083	M	0.78637	2.42	0.34536	D	0.70973	D;D;D	0.76494	0.989;0.979;0.999	P;P;D	0.74674	0.868;0.874;0.984	T	0.71676	-0.4521	9	0.87932	D	0	-8.439	17.7447	0.88416	0.0:1.0:0.0:0.0	.	115;115;115	Q9UJ78;Q9UJ78-2;Q9UJ78-1	ZMYM5_HUMAN;.;.	K	115;105;115;115	ENSP00000337034:E115K;ENSP00000445779:E105K;ENSP00000372364:E115K;ENSP00000372361:E115K	ENSP00000337034:E115K	E	-	1	0	ZMYM5	19323978	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.131000	0.64751	2.516000	0.84829	0.561000	0.74099	GAG	ZMYM5	-	NULL	ENSG00000132950		0.348	ZMYM5-201	KNOWN	basic|appris_principal	protein_coding	ZMYM5	HGNC	protein_coding		70	0.00	0	C	NM_014242		20425978	20425978	-1	no_errors	ENST00000337963	ensembl	human	known	69_37n	missense	53	23.19	16	SNP	1.000	T
ZMYM6	9204	genome.wustl.edu	37	1	35453172	35453172	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:35453172C>G	ENST00000357182.4	-	16	3738	c.3511G>C	c.(3511-3513)Gaa>Caa	p.E1171Q	ZMYM6_ENST00000493328.1_5'UTR|RP11-244H3.1_ENST00000417456.1_RNA|ZMYM6NB_ENST00000373337.3_5'Flank|ZMYM6_ENST00000487874.1_Intron|ZMYM6_ENST00000373340.2_Intron	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	1171					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				TTTGAGAATTCAGAAAATGAA	0.343																																						dbGAP											0													47.0	47.0	47.0					1																	35453172		1863	4084	5947	-	-	-	SO:0001583	missense	0			AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"""Zinc fingers, MYM type"", ""Zinc fingers, BED-type"""	13050	protein-coding gene	gene with protein product	"""zinc finger, BED-type containing 7"""	613567	"""zinc finger protein 258"", ""zinc finger, MYM-type containing 6"""	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.3511G>C	1.37:g.35453172C>G	ENSP00000349708:p.Glu1171Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Missense_Mutation	SNP	pfam_Znf_MYM,superfamily_RNaseH-like_dom,smart_TRASH	p.E1171Q	ENST00000357182.4	37	c.3511	CCDS387.2	1	.	.	.	.	.	.	.	.	.	.	C	10.41	1.341796	0.24339	.	.	ENSG00000163867	ENST00000357182	T	0.21543	2.0	4.88	4.88	0.63580	Ribonuclease H-like (1);	0.182021	0.48286	D	0.000194	T	0.14270	0.0345	N	0.24115	0.695	0.80722	D	1	P	0.38195	0.622	B	0.34991	0.193	T	0.05305	-1.0893	10	0.33940	T	0.23	-19.2588	13.7528	0.62917	0.0:1.0:0.0:0.0	.	1171	O95789	ZMYM6_HUMAN	Q	1171	ENSP00000349708:E1171Q	ENSP00000349708:E1171Q	E	-	1	0	ZMYM6	35225759	0.998000	0.40836	0.992000	0.48379	0.968000	0.65278	1.966000	0.40481	2.710000	0.92621	0.650000	0.86243	GAA	ZMYM6	-	superfamily_RNaseH-like_dom	ENSG00000163867		0.343	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYM6	HGNC	protein_coding	OTTHUMT00000011999.1	38	0.00	0	C	NM_007167		35453172	35453172	-1	no_errors	ENST00000357182	ensembl	human	known	69_37n	missense	43	28.33	17	SNP	0.806	G
ZMYND15	84225	genome.wustl.edu	37	17	4644970	4644970	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:4644970G>A	ENST00000433935.1	+	3	743	c.686G>A	c.(685-687)gGa>gAa	p.G229E	CXCL16_ENST00000574412.1_5'Flank|ZMYND15_ENST00000269289.6_Missense_Mutation_p.G229E|ZMYND15_ENST00000592813.1_Missense_Mutation_p.G229E|CXCL16_ENST00000293778.6_5'Flank|ZMYND15_ENST00000573751.2_Missense_Mutation_p.G229E	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	229					negative regulation of transcription, DNA-templated (GO:0045892)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						GGAGCCCAGGGAACCGCAAGC	0.612																																						dbGAP											0													111.0	113.0	112.0					17																	4644970		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL136893	CCDS11053.1, CCDS45584.1, CCDS58506.1	17p13.3	2008-05-02			ENSG00000141497	ENSG00000141497		"""Zinc fingers, MYND-type"""	20997	protein-coding gene	gene with protein product		614312				11230166	Standard	NM_001136046		Approved	DKFZp434N127	uc002fyu.3	Q9H091	OTTHUMG00000090760	ENST00000433935.1:c.686G>A	17.37:g.4644970G>A	ENSP00000391742:p.Gly229Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DXY5|I3L296	Missense_Mutation	SNP	pfam_Znf_MYND,pfscan_Znf_MYND	p.G229E	ENST00000433935.1	37	c.686	CCDS45584.1	17	.	.	.	.	.	.	.	.	.	.	G	2.964	-0.213850	0.06101	.	.	ENSG00000141497	ENST00000433935;ENST00000269289	T;T	0.44881	0.91;0.92	5.25	4.29	0.51040	.	0.253773	0.28312	N	0.015812	T	0.26666	0.0652	N	0.19112	0.55	0.09310	N	0.999999	B;B	0.19200	0.034;0.007	B;B	0.17098	0.017;0.004	T	0.16364	-1.0405	10	0.52906	T	0.07	-12.1817	7.9823	0.30192	0.1793:0.0:0.8207:0.0	.	229;229	B4DXY5;Q9H091	.;ZMY15_HUMAN	E	229	ENSP00000391742:G229E;ENSP00000269289:G229E	ENSP00000269289:G229E	G	+	2	0	ZMYND15	4591719	0.993000	0.37304	0.014000	0.15608	0.180000	0.23129	1.891000	0.39738	1.456000	0.47831	0.563000	0.77884	GGA	ZMYND15	-	NULL	ENSG00000141497		0.612	ZMYND15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYND15	HGNC	protein_coding	OTTHUMT00000439580.1	81	0.00	0	G	NM_032265		4644970	4644970	+1	no_errors	ENST00000433935	ensembl	human	known	69_37n	missense	52	49.02	50	SNP	0.158	A
ZMYND15	84225	genome.wustl.edu	37	17	4647380	4647380	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:4647380C>T	ENST00000433935.1	+	8	1530	c.1473C>T	c.(1471-1473)atC>atT	p.I491I	ZMYND15_ENST00000269289.6_Intron|ZMYND15_ENST00000592813.1_Intron|ZMYND15_ENST00000573751.2_Silent_p.I491I	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	491					negative regulation of transcription, DNA-templated (GO:0045892)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						ACTACGTCATCACCCACCTGG	0.597																																						dbGAP											0													75.0	73.0	74.0					17																	4647380		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AL136893	CCDS11053.1, CCDS45584.1, CCDS58506.1	17p13.3	2008-05-02			ENSG00000141497	ENSG00000141497		"""Zinc fingers, MYND-type"""	20997	protein-coding gene	gene with protein product		614312				11230166	Standard	NM_001136046		Approved	DKFZp434N127	uc002fyu.3	Q9H091	OTTHUMG00000090760	ENST00000433935.1:c.1473C>T	17.37:g.4647380C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DXY5|I3L296	Silent	SNP	pfam_Znf_MYND,pfscan_Znf_MYND	p.I491	ENST00000433935.1	37	c.1473	CCDS45584.1	17																																																																																			ZMYND15	-	NULL	ENSG00000141497		0.597	ZMYND15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYND15	HGNC	protein_coding	OTTHUMT00000439580.1	90	0.00	0	C	NM_032265		4647380	4647380	+1	no_errors	ENST00000433935	ensembl	human	known	69_37n	silent	63	26.74	23	SNP	1.000	T
ZMYND8	23613	genome.wustl.edu	37	20	45865143	45865143	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:45865143G>A	ENST00000311275.7	-	16	2976	c.2723C>T	c.(2722-2724)tCa>tTa	p.S908L	ZMYND8_ENST00000396281.4_Missense_Mutation_p.S908L|ZMYND8_ENST00000536340.1_Missense_Mutation_p.S935L|ZMYND8_ENST00000471951.2_Missense_Mutation_p.S928L|ZMYND8_ENST00000458360.2_Missense_Mutation_p.S776L|ZMYND8_ENST00000372023.3_Missense_Mutation_p.S857L|ZMYND8_ENST00000360911.3_Missense_Mutation_p.S857L|ZMYND8_ENST00000540497.1_Missense_Mutation_p.S856L|ZMYND8_ENST00000468376.2_5'Flank|ZMYND8_ENST00000262975.4_Missense_Mutation_p.S862L|ZMYND8_ENST00000355972.4_Missense_Mutation_p.S908L|ZMYND8_ENST00000446994.2_Missense_Mutation_p.S799L|ZMYND8_ENST00000352431.2_Missense_Mutation_p.S882L|ZMYND8_ENST00000461685.1_Missense_Mutation_p.S882L	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	908					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			AGCGTTGACTGAGGACACAAG	0.587																																						dbGAP											0													211.0	159.0	177.0					20																	45865143		2203	4300	6503	-	-	-	SO:0001583	missense	0			U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.2723C>T	20.37:g.45865143G>A	ENSP00000312237:p.Ser908Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP	pfam_DUF3544,pfam_Bromodomain,pfam_PWWP,pfam_Znf_PHD-finger,pfam_Znf_MYND,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain	p.S935L	ENST00000311275.7	37	c.2804		20	.	.	.	.	.	.	.	.	.	.	G	8.320	0.824059	0.16678	.	.	ENSG00000101040	ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497	D;D;D;D;D;D;D;D;D;D;D	0.89681	-1.71;-1.6;-1.72;-1.6;-1.71;-1.61;-1.61;-2.55;-1.59;-1.7;-1.72	5.74	4.78	0.61160	.	0.446249	0.23321	N	0.049454	D	0.85890	0.5802	L	0.46157	1.445	0.26802	N	0.969186	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.24483	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.104;0.0;0.0	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.27262	0.001;0.001;0.0;0.0;0.001;0.001;0.002;0.002;0.002;0.001;0.002;0.001;0.0;0.078;0.0;0.001	T	0.78404	-0.2217	10	0.49607	T	0.09	-3.7576	13.451	0.61172	0.0733:0.0:0.9267:0.0	.	776;935;857;837;928;862;857;882;882;908;799;857;856;801;810;908	B7ZM62;F5H0X3;Q2HXV3;Q5TH11;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q9ULU4-8;Q2HXV4;B7Z2A8	.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.;.	L	857;908;776;863;929;882;908;935;908;799;882;857;856	ENSP00000354166:S857L;ENSP00000312237:S908L;ENSP00000392964:S776L;ENSP00000335537:S882L;ENSP00000379577:S908L;ENSP00000439800:S935L;ENSP00000348246:S908L;ENSP00000396725:S799L;ENSP00000418210:S882L;ENSP00000361093:S857L;ENSP00000443086:S856L	ENSP00000262975:S863L	S	-	2	0	ZMYND8	45298550	0.994000	0.37717	0.012000	0.15200	0.007000	0.05969	4.276000	0.58933	1.388000	0.46506	0.655000	0.94253	TCA	ZMYND8	-	NULL	ENSG00000101040		0.587	ZMYND8-007	KNOWN	basic	protein_coding	ZMYND8	HGNC	protein_coding	OTTHUMT00000079596.2	81	0.00	0	G	NM_183047		45865143	45865143	-1	no_errors	ENST00000536340	ensembl	human	known	69_37n	missense	134	12.99	20	SNP	0.611	A
ZMYND8	23613	genome.wustl.edu	37	20	45878112	45878112	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:45878112G>A	ENST00000311275.7	-	13	1886	c.1633C>T	c.(1633-1635)Ctc>Ttc	p.L545F	ZMYND8_ENST00000396281.4_Missense_Mutation_p.L545F|ZMYND8_ENST00000536340.1_Missense_Mutation_p.L572F|ZMYND8_ENST00000471951.2_Missense_Mutation_p.L565F|ZMYND8_ENST00000458360.2_Missense_Mutation_p.L540F|ZMYND8_ENST00000372023.3_Missense_Mutation_p.L540F|ZMYND8_ENST00000360911.3_Missense_Mutation_p.L540F|ZMYND8_ENST00000540497.1_Missense_Mutation_p.L493F|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000262975.4_Missense_Mutation_p.L545F|ZMYND8_ENST00000355972.4_Missense_Mutation_p.L545F|ZMYND8_ENST00000446994.2_Missense_Mutation_p.L482F|ZMYND8_ENST00000352431.2_Missense_Mutation_p.L565F|ZMYND8_ENST00000461685.1_Missense_Mutation_p.L565F	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	545					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)	p.L565F(1)		NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GGAGAGATGAGAGGAACAGGG	0.478																																						dbGAP											1	Substitution - Missense(1)	urinary_tract(1)											146.0	128.0	134.0					20																	45878112		2203	4300	6503	-	-	-	SO:0001583	missense	0			U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.1633C>T	20.37:g.45878112G>A	ENSP00000312237:p.Leu545Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP	pfam_DUF3544,pfam_Bromodomain,pfam_PWWP,pfam_Znf_PHD-finger,pfam_Znf_MYND,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain	p.L572F	ENST00000311275.7	37	c.1714		20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.27|16.27	3.074923|3.074923	0.55646|0.55646	.|.	.|.	ENSG00000101040|ENSG00000101040	ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497|ENST00000467200	D;D;D;D;D;D;D;D;D;D;D|.	0.92545|.	-2.17;-2.05;-2.16;-2.07;-2.18;-2.08;-2.07;-3.06;-2.09;-2.19;-2.08|.	5.7|5.7	4.75|4.75	0.60458|0.60458	.|.	0.138368|.	0.48286|.	D|.	0.000197|.	T|T	0.62011|0.62011	0.2393|0.2393	L|L	0.53249|0.53249	1.67|1.67	0.42723|0.42723	D|D	0.99368|0.99368	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.89917|.	1.0;0.997;0.996;0.999;0.998;0.996;0.997;0.995;0.997;0.995;0.995;0.996;0.996;0.996;0.996;0.993;0.996;0.996|.	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;P;D;D|.	0.79784|.	0.993;0.975;0.985;0.99;0.98;0.985;0.975;0.975;0.967;0.975;0.975;0.985;0.985;0.985;0.985;0.827;0.964;0.985|.	T|T	0.59337|0.59337	-0.7473|-0.7473	10|5	0.41790|.	T|.	0.15|.	-12.6145|-12.6145	11.3987|11.3987	0.49858|0.49858	0.1373:0.0:0.8627:0.0|0.1373:0.0:0.8627:0.0	.|.	540;572;540;540;520;539;565;545;540;565;565;545;482;540;493;565;493;545|.	B7ZM62;F5H0X3;Q2HXV7;Q2HXV3;Q5TH11;Q5JV90;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q9ULU4-8;Q2HXV4;B7Z2A8|.	.;.;.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.;.|.	F|F	540;545;540;546;566;565;545;572;545;482;565;540;493|472	ENSP00000354166:L540F;ENSP00000312237:L545F;ENSP00000392964:L540F;ENSP00000335537:L565F;ENSP00000379577:L545F;ENSP00000439800:L572F;ENSP00000348246:L545F;ENSP00000396725:L482F;ENSP00000418210:L565F;ENSP00000361093:L540F;ENSP00000443086:L493F|.	ENSP00000262975:L546F|.	L|S	-|-	1|2	0|0	ZMYND8|ZMYND8	45311519|45311519	1.000000|1.000000	0.71417|0.71417	0.960000|0.960000	0.40013|0.40013	0.409000|0.409000	0.31022|0.31022	4.437000|4.437000	0.59955|0.59955	2.683000|2.683000	0.91414|0.91414	0.650000|0.650000	0.86243|0.86243	CTC|TCT	ZMYND8	-	pfam_DUF3544	ENSG00000101040		0.478	ZMYND8-007	KNOWN	basic	protein_coding	ZMYND8	HGNC	protein_coding	OTTHUMT00000079596.2	102	0.00	0	G	NM_183047		45878112	45878112	-1	no_errors	ENST00000536340	ensembl	human	known	69_37n	missense	118	18.06	26	SNP	0.932	A
ZNF114	163071	genome.wustl.edu	37	19	48785657	48785657	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:48785657G>A	ENST00000595607.1	+	5	533	c.39G>A	c.(37-39)gtG>gtA	p.V13V	ZNF114_ENST00000600687.1_Silent_p.V13V|ZNF114_ENST00000315849.1_Silent_p.V13V|ZNF114_ENST00000597695.1_5'UTR			Q8NC26	ZN114_HUMAN	zinc finger protein 114	13	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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(1)|large_intestine(6)|lung(11)	18		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)		ACGTGGCTGTGAACTTCACCA	0.498																																						dbGAP											0													146.0	144.0	145.0					19																	48785657		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC014935	CCDS12713.1, CCDS74412.1	19q13.32	2013-01-08			ENSG00000178150	ENSG00000178150		"""Zinc fingers, C2H2-type"", ""-"""	12894	protein-coding gene	gene with protein product		603996					Standard	XM_005258580		Approved	MGC17986	uc002pim.1	Q8NC26		ENST00000595607.1:c.39G>A	19.37:g.48785657G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6B0|Q08AQ6	Silent	SNP	pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.V13	ENST00000595607.1	37	c.39	CCDS12713.1	19																																																																																			ZNF114	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000178150		0.498	ZNF114-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF114	HGNC	protein_coding	OTTHUMT00000465601.1	53	0.00	0	G	NM_153608		48785657	48785657	+1	no_errors	ENST00000315849	ensembl	human	known	69_37n	silent	43	28.33	17	SNP	0.914	A
ZNF124	7678	genome.wustl.edu	37	1	247320335	247320335	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:247320335C>G	ENST00000543802.2	-	4	678	c.589G>C	c.(589-591)Gaa>Caa	p.E197Q	ZNF124_ENST00000491848.1_5'UTR|ZNF124_ENST00000491356.1_Intron|ZNF124_ENST00000472531.1_Intron|ZNF124_ENST00000340684.6_Missense_Mutation_p.E135Q			Q15973	ZN124_HUMAN	zinc finger protein 124	197					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			TGAGTTCTTTCATGGTCACGA	0.423																																						dbGAP											0													88.0	84.0	86.0					1																	247320335		2203	4300	6503	-	-	-	SO:0001583	missense	0			S54641	CCDS31089.1, CCDS58067.1, CCDS73057.1	1q44	2013-01-08	2006-06-13		ENSG00000196418	ENSG00000196418		"""Zinc fingers, C2H2-type"", ""-"""	12907	protein-coding gene	gene with protein product		194631	"""zinc finger protein 124 (HZF-16)"""			7916577	Standard	XM_005273256		Approved	HZF16, HZF-16	uc001icj.1	Q15973	OTTHUMG00000041112	ENST00000543802.2:c.589G>C	1.37:g.247320335C>G	ENSP00000440365:p.Glu197Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KNP3|J3KSE1|Q15974|Q4VAJ7|Q5T2V4	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.E197Q	ENST00000543802.2	37	c.589		1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.577081	0.00887	.	.	ENSG00000196418	ENST00000366499;ENST00000340684;ENST00000543802	T	0.07444	3.19	0.864	0.864	0.19068	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03348	0.0097	N	0.10837	0.055	0.28300	N	0.923135	B;B	0.24920	0.008;0.114	B;B	0.20577	0.009;0.03	T	0.42327	-0.9458	9	0.02654	T	1	.	7.5457	0.27766	0.0:1.0:0.0:0.0	.	197;135	Q15973;Q15973-4	ZN124_HUMAN;.	Q	158;135;141	ENSP00000340749:E135Q	ENSP00000340749:E135Q	E	-	1	0	ZNF124	245386958	0.000000	0.05858	0.006000	0.13384	0.003000	0.03518	-0.726000	0.04936	0.746000	0.32786	0.467000	0.42956	GAA	ZNF124	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196418		0.423	ZNF124-009	KNOWN	basic|appris_principal	protein_coding	ZNF124	HGNC	protein_coding	OTTHUMT00000447393.1	71	0.00	0	C	NM_003431		247320335	247320335	-1	no_errors	ENST00000543802	ensembl	human	known	69_37n	missense	92	17.12	19	SNP	0.994	G
ZNF132	7691	genome.wustl.edu	37	19	58946561	58946561	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:58946561C>G	ENST00000254166.3	-	3	650	c.250G>C	c.(250-252)Gag>Cag	p.E84Q		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	84	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)			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		CCCTCACCCTCTACTCCATGC	0.453																																						dbGAP											0													72.0	75.0	74.0					19																	58946561		2203	4300	6503	-	-	-	SO:0001583	missense	0			U09411	CCDS12980.1	19q13.4	2013-01-08	2006-06-13			ENSG00000131849		"""Zinc fingers, C2H2-type"", ""-"""	12916	protein-coding gene	gene with protein product		604074	"""zinc finger protein 132 (clone pHZ-12)"""			7557990	Standard	NM_003433		Approved	pHZ-12	uc002qst.4	P52740		ENST00000254166.3:c.250G>C	19.37:g.58946561C>G	ENSP00000254166:p.Glu84Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q32MI9	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.E84Q	ENST00000254166.3	37	c.250	CCDS12980.1	19	.	.	.	.	.	.	.	.	.	.	C	13.79	2.342516	0.41498	.	.	ENSG00000131849	ENST00000254166;ENST00000391695	T	0.00816	5.66	3.12	2.06	0.26882	Krueppel-associated box (3);	.	.	.	.	T	0.00936	0.0031	L	0.41079	1.255	0.09310	N	1	B	0.29862	0.259	B	0.23018	0.043	T	0.48293	-0.9048	9	0.31617	T	0.26	.	6.35	0.21370	0.0:0.8565:0.0:0.1435	.	84	P52740	ZN132_HUMAN	Q	84;92	ENSP00000254166:E84Q	ENSP00000254166:E84Q	E	-	1	0	ZNF132	63638373	0.003000	0.15002	0.091000	0.20842	0.200000	0.23975	0.553000	0.23391	0.632000	0.30432	0.655000	0.94253	GAG	ZNF132	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000131849		0.453	ZNF132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF132	HGNC	protein_coding	OTTHUMT00000467035.1	19	0.00	0	C	NM_003433		58946561	58946561	-1	no_errors	ENST00000254166	ensembl	human	known	69_37n	missense	14	36.36	8	SNP	0.264	G
ZNF133	7692	genome.wustl.edu	37	20	18296107	18296107	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:18296107G>T	ENST00000316358.4	+	4	709	c.612G>T	c.(610-612)aaG>aaT	p.K204N	ZNF133_ENST00000538547.1_Missense_Mutation_p.K109N|ZNF133_ENST00000377671.3_Missense_Mutation_p.K203N|ZNF133_ENST00000402618.2_Missense_Mutation_p.K141N|ZNF133_ENST00000396026.3_Missense_Mutation_p.K207N|RP4-568F9.3_ENST00000436848.1_RNA|ZNF133_ENST00000401790.1_Missense_Mutation_p.K204N|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000535822.1_Missense_Mutation_p.K109N	NM_001282998.1|NM_001282999.1|NM_001283000.1|NM_001283001.1|NM_001283008.1	NP_001269927.1|NP_001269928.1|NP_001269929.1|NP_001269930.1|NP_001269937.1	P52736	ZN133_HUMAN	zinc finger protein 133	204					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)			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						AATTGTTGAAGAGGATAGAAG	0.522																																						dbGAP											0													70.0	76.0	74.0					20																	18296107		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK123005	CCDS13134.1, CCDS63234.1, CCDS63235.1, CCDS74703.1, CCDS74704.1	20p11.23	2013-01-08	2006-06-13		ENSG00000125846	ENSG00000125846		"""Zinc fingers, C2H2-type"", ""-"""	12917	protein-coding gene	gene with protein product		604075	"""zinc finger protein 150 (pHZ-66)"", ""zinc finger protein 133 (clone pHZ-13)"""	ZNF150		7557990, 7649249	Standard	XM_005260819		Approved	pHZ-13, pHZ-66	uc010gcs.3	P52736	OTTHUMG00000031965	ENST00000316358.4:c.612G>T	20.37:g.18296107G>T	ENSP00000346090:p.Lys204Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5S4|B4DHU7|B4DIB8|B7ZAS1|F5H289|J3KQ11|J3KQJ0|Q53XU1|Q5JXV8|Q9BUV2|Q9H443	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.K207N	ENST00000316358.4	37	c.621		20	.	.	.	.	.	.	.	.	.	.	G	12.49	1.953300	0.34471	.	.	ENSG00000125846	ENST00000377671;ENST00000396026;ENST00000402618;ENST00000401790;ENST00000538547;ENST00000535822;ENST00000316358	T;T;T;T;T;T;T	0.08102	3.32;3.29;3.13;3.29;3.16;3.16;3.29	4.04	0.853	0.19001	.	0.128971	0.35525	N	0.003145	T	0.10165	0.0249	L	0.34521	1.04	0.26183	N	0.979701	P;P;P;P	0.51791	0.947;0.848;0.848;0.948	P;P;P;P	0.54270	0.599;0.572;0.564;0.747	T	0.09751	-1.0660	10	0.62326	D	0.03	-19.0788	5.3424	0.15990	0.1885:0.0:0.6494:0.1621	.	141;207;204;203	B4DIB8;B4DHU7;P52736;P52736-2	.;.;ZN133_HUMAN;.	N	203;207;141;204;109;109;204	ENSP00000366899:K203N;ENSP00000400897:K207N;ENSP00000385279:K141N;ENSP00000383945:K204N;ENSP00000442978:K109N;ENSP00000439427:K109N;ENSP00000346090:K204N	ENSP00000346090:K204N	K	+	3	2	ZNF133	18244107	0.005000	0.15991	0.694000	0.30210	0.702000	0.40608	0.158000	0.16422	0.233000	0.21120	0.313000	0.20887	AAG	ZNF133	-	NULL	ENSG00000125846		0.522	ZNF133-002	KNOWN	basic|appris_candidate	protein_coding	ZNF133	HGNC	protein_coding	OTTHUMT00000127616.1	25	0.00	0	G	NM_003434		18296107	18296107	+1	no_errors	ENST00000396026	ensembl	human	known	69_37n	missense	11	57.69	15	SNP	0.925	T
ZNF133	7692	genome.wustl.edu	37	20	18297346	18297346	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:18297346C>G	ENST00000316358.4	+	4	1948	c.1851C>G	c.(1849-1851)ctC>ctG	p.L617L	ZNF133_ENST00000538547.1_Silent_p.L522L|ZNF133_ENST00000377671.3_Silent_p.L616L|ZNF133_ENST00000402618.2_Silent_p.L554L|ZNF133_ENST00000396026.3_Silent_p.L620L|RP4-568F9.3_ENST00000436848.1_RNA|ZNF133_ENST00000401790.1_Silent_p.L617L|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000535822.1_Silent_p.L522L	NM_001282998.1|NM_001282999.1|NM_001283000.1|NM_001283001.1|NM_001283008.1	NP_001269927.1|NP_001269928.1|NP_001269929.1|NP_001269930.1|NP_001269937.1	P52736	ZN133_HUMAN	zinc finger protein 133	617					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)			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						GCTTCAGCCTCAAGTCTCACC	0.567																																						dbGAP											0													63.0	61.0	62.0					20																	18297346		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK123005	CCDS13134.1, CCDS63234.1, CCDS63235.1, CCDS74703.1, CCDS74704.1	20p11.23	2013-01-08	2006-06-13		ENSG00000125846	ENSG00000125846		"""Zinc fingers, C2H2-type"", ""-"""	12917	protein-coding gene	gene with protein product		604075	"""zinc finger protein 150 (pHZ-66)"", ""zinc finger protein 133 (clone pHZ-13)"""	ZNF150		7557990, 7649249	Standard	XM_005260819		Approved	pHZ-13, pHZ-66	uc010gcs.3	P52736	OTTHUMG00000031965	ENST00000316358.4:c.1851C>G	20.37:g.18297346C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5S4|B4DHU7|B4DIB8|B7ZAS1|F5H289|J3KQ11|J3KQJ0|Q53XU1|Q5JXV8|Q9BUV2|Q9H443	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.L620	ENST00000316358.4	37	c.1860		20																																																																																			ZNF133	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000125846		0.567	ZNF133-002	KNOWN	basic|appris_candidate	protein_coding	ZNF133	HGNC	protein_coding	OTTHUMT00000127616.1	12	0.00	0	C	NM_003434		18297346	18297346	+1	no_errors	ENST00000396026	ensembl	human	known	69_37n	silent	33	19.05	8	SNP	0.099	G
ZNF135	7694	genome.wustl.edu	37	19	58578511	58578511	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:58578511G>T	ENST00000313434.5	+	5	760	c.659G>T	c.(658-660)gGa>gTa	p.G220V	ZNF135_ENST00000401053.4_Missense_Mutation_p.G244V|RN7SL526P_ENST00000469492.2_RNA|ZNF135_ENST00000506786.1_Missense_Mutation_p.G178V|ZNF135_ENST00000511556.1_Missense_Mutation_p.G232V|ZNF135_ENST00000359978.6_Missense_Mutation_p.G232V|ZNF135_ENST00000439855.2_Missense_Mutation_p.G220V	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	220					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)|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(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		CAGGAATGCGGAAAGGCCTTT	0.478																																						dbGAP											0													119.0	110.0	113.0					19																	58578511		2203	4300	6503	-	-	-	SO:0001583	missense	0			U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293		"""Zinc fingers, C2H2-type"", ""-"""	12919	protein-coding gene	gene with protein product		604077	"""zinc finger protein 61"", ""zinc finger protein 135 (clone pHZ-17)"""	ZNF61, ZNF78L1		7557990, 1505991	Standard	NM_003436		Approved	pHZ-17	uc002qrg.3	P52742		ENST00000313434.5:c.659G>T	19.37:g.58578511G>T	ENSP00000321406:p.Gly220Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	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.E238*	ENST00000313434.5	37	c.712		19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.14|10.14	1.268709|1.268709	0.23136|0.23136	.|.	.|.	ENSG00000176293|ENSG00000176293	ENST00000391699|ENST00000504540;ENST00000401053;ENST00000359978;ENST00000439855;ENST00000313434;ENST00000511556;ENST00000506786	.|T;T;T;T;T;T	.|0.03689	.|3.84;3.84;3.84;3.84;3.84;3.84	3.51|3.51	-0.0271|-0.0271	0.13927|0.13927	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|.	.|.	.|.	.|.	.|T	.|0.08537	.|0.0212	.|.	.|.	.|.	0.38378|0.38378	D|D	0.94504|0.94504	.|D;D;D	.|0.71674	.|0.984;0.998;0.994	.|P;P;P	.|0.55871	.|0.514;0.786;0.7	.|T	.|0.23868	.|-1.0176	.|8	.|0.66056	.|D	.|0.02	.|.	6.1185|6.1185	0.20139|0.20139	0.1766:0.1597:0.6637:0.0|0.1766:0.1597:0.6637:0.0	.|.	.|232;220;232	.|E9PEV2;P52742;Q8N1I7	.|.;ZN135_HUMAN;.	X|V	238|232;244;232;220;220;232;178	.|ENSP00000441410:G244V;ENSP00000369437:G232V;ENSP00000444828:G220V;ENSP00000321406:G220V;ENSP00000422074:G232V;ENSP00000427691:G178V	.|ENSP00000321406:G220V	E|G	+|+	1|2	0|0	ZNF135|ZNF135	63270323|63270323	0.152000|0.152000	0.22762|0.22762	0.139000|0.139000	0.22197|0.22197	0.043000|0.043000	0.13939|0.13939	1.080000|1.080000	0.30779|0.30779	-0.009000|-0.009000	0.14296|0.14296	0.557000|0.557000	0.71058|0.71058	GAA|GGA	ZNF135	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000176293		0.478	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	ZNF135	HGNC	protein_coding	OTTHUMT00000361899.2	58	0.00	0	G	NM_003436		58578511	58578511	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000391699	ensembl	human	putative	69_37n	nonsense	36	16.28	7	SNP	0.924	T
ZNF136	7695	genome.wustl.edu	37	19	12296618	12296618	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:12296618G>A	ENST00000343979.4	+	2	162	c.22G>A	c.(22-24)Gat>Aat	p.D8N	ZNF136_ENST00000398616.2_Intron	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	8	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						GGCTTTTGAGGATGTAGATGT	0.488																																						dbGAP											0													88.0	83.0	85.0					19																	12296618		2203	4300	6503	-	-	-	SO:0001583	missense	0			U09367	CCDS32916.1	19p13.2	2013-01-08	2006-06-13		ENSG00000196646	ENSG00000196646		"""Zinc fingers, C2H2-type"", ""-"""	12920	protein-coding gene	gene with protein product		604078	"""zinc finger protein 136 (clone pHZ-20)"""			7557990	Standard	NM_003437		Approved	pHZ-20	uc002mti.3	P52737	OTTHUMG00000156429	ENST00000343979.4:c.22G>A	19.37:g.12296618G>A	ENSP00000344162:p.Asp8Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.D8N	ENST00000343979.4	37	c.22	CCDS32916.1	19	.	.	.	.	.	.	.	.	.	.	G	19.80	3.895213	0.72639	.	.	ENSG00000196646	ENST00000343979	T	0.11169	2.8	1.22	1.22	0.21188	Krueppel-associated box (4);	.	.	.	.	T	0.42720	0.1215	H	0.98111	4.15	0.30650	N	0.755528	D	0.69078	0.997	D	0.80764	0.994	T	0.45411	-0.9263	9	0.87932	D	0	.	5.842	0.18639	0.0:0.0:1.0:0.0	.	8	P52737	ZN136_HUMAN	N	8	ENSP00000344162:D8N	ENSP00000344162:D8N	D	+	1	0	ZNF136	12157618	0.982000	0.34865	0.370000	0.25965	0.905000	0.53344	3.385000	0.52485	0.979000	0.38497	0.655000	0.94253	GAT	ZNF136	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000196646		0.488	ZNF136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF136	HGNC	protein_coding	OTTHUMT00000344151.2	115	0.00	0	G	NM_003437		12296618	12296618	+1	no_errors	ENST00000343979	ensembl	human	known	69_37n	missense	81	28.95	33	SNP	0.507	A
ZNF14	7561	genome.wustl.edu	37	19	19822358	19822358	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:19822358C>T	ENST00000344099.3	-	4	1870	c.1732G>A	c.(1732-1734)Gag>Aag	p.E578K		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	578					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)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				TGAGTTCTCTCATGCATTCGA	0.403																																						dbGAP											0													68.0	68.0	68.0					19																	19822358		2203	4300	6503	-	-	-	SO:0001583	missense	0			AA286756	CCDS12409.1	19p13.11	2013-01-08	2006-05-10					"""Zinc fingers, C2H2-type"", ""-"""	12924	protein-coding gene	gene with protein product		194556	"""zinc finger protein 14 (KOX 6)"""				Standard	NM_021030		Approved	KOX6, GIOT-4	uc002nnk.1	P17017		ENST00000344099.3:c.1732G>A	19.37:g.19822358C>T	ENSP00000340514:p.Glu578Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGA4|Q9ULZ5	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.E578K	ENST00000344099.3	37	c.1732	CCDS12409.1	19	.	.	.	.	.	.	.	.	.	.	C	14.67	2.605212	0.46423	.	.	ENSG00000105708	ENST00000344099	T	0.17370	2.28	1.8	-3.53	0.04667	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04092	0.0114	N	0.01640	-0.785	0.09310	N	1	B	0.32188	0.359	B	0.25759	0.063	T	0.34477	-0.9827	9	0.36615	T	0.2	.	3.5316	0.07778	0.0:0.3033:0.2101:0.4866	.	578	P17017	ZNF14_HUMAN	K	578	ENSP00000340514:E578K	ENSP00000340514:E578K	E	-	1	0	ZNF14	19683358	0.000000	0.05858	0.000000	0.03702	0.905000	0.53344	-0.684000	0.05173	-0.363000	0.08101	0.467000	0.42956	GAG	ZNF14	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000105708		0.403	ZNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF14	HGNC	protein_coding	OTTHUMT00000460775.1	75	0.00	0	C	NM_021030		19822358	19822358	-1	no_errors	ENST00000344099	ensembl	human	known	69_37n	missense	59	19.18	14	SNP	0.002	T
ZNF14	7561	genome.wustl.edu	37	19	19823866	19823866	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:19823866C>G	ENST00000344099.3	-	4	362	c.224G>C	c.(223-225)aGa>aCa	p.R75T		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	75	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)			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				GCTACCTCTTCTACTTTCACA	0.338																																						dbGAP											0													103.0	98.0	100.0					19																	19823866		2203	4300	6503	-	-	-	SO:0001583	missense	0			AA286756	CCDS12409.1	19p13.11	2013-01-08	2006-05-10					"""Zinc fingers, C2H2-type"", ""-"""	12924	protein-coding gene	gene with protein product		194556	"""zinc finger protein 14 (KOX 6)"""				Standard	NM_021030		Approved	KOX6, GIOT-4	uc002nnk.1	P17017		ENST00000344099.3:c.224G>C	19.37:g.19823866C>G	ENSP00000340514:p.Arg75Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGA4|Q9ULZ5	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.R75T	ENST00000344099.3	37	c.224	CCDS12409.1	19	.	.	.	.	.	.	.	.	.	.	C	6.259	0.415904	0.11870	.	.	ENSG00000105708	ENST00000344099	T	0.05382	3.45	1.12	-2.23	0.06930	Krueppel-associated box (1);	.	.	.	.	T	0.01870	0.0059	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44787	-0.9305	9	0.17832	T	0.49	.	2.7691	0.05328	0.0:0.3506:0.2558:0.3936	.	75	P17017	ZNF14_HUMAN	T	75	ENSP00000340514:R75T	ENSP00000340514:R75T	R	-	2	0	ZNF14	19684866	0.000000	0.05858	0.002000	0.10522	0.305000	0.27757	-0.528000	0.06193	-1.204000	0.02648	-0.384000	0.06662	AGA	ZNF14	-	pfscan_Krueppel-associated_box	ENSG00000105708		0.338	ZNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF14	HGNC	protein_coding	OTTHUMT00000460775.1	92	0.00	0	C	NM_021030		19823866	19823866	-1	no_errors	ENST00000344099	ensembl	human	known	69_37n	missense	53	24.29	17	SNP	0.007	G
ZNF14	7561	genome.wustl.edu	37	19	19823883	19823883	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:19823883C>G	ENST00000344099.3	-	4	345	c.207G>C	c.(205-207)gaG>gaC	p.E69D		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	69	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)			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				CACAGAGTCTCTCAACCATAT	0.323																																						dbGAP											0													91.0	87.0	88.0					19																	19823883		2203	4300	6503	-	-	-	SO:0001583	missense	0			AA286756	CCDS12409.1	19p13.11	2013-01-08	2006-05-10					"""Zinc fingers, C2H2-type"", ""-"""	12924	protein-coding gene	gene with protein product		194556	"""zinc finger protein 14 (KOX 6)"""				Standard	NM_021030		Approved	KOX6, GIOT-4	uc002nnk.1	P17017		ENST00000344099.3:c.207G>C	19.37:g.19823883C>G	ENSP00000340514:p.Glu69Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGA4|Q9ULZ5	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.E69D	ENST00000344099.3	37	c.207	CCDS12409.1	19	.	.	.	.	.	.	.	.	.	.	C	11.83	1.754382	0.31046	.	.	ENSG00000105708	ENST00000344099	T	0.06449	3.3	1.67	-0.866	0.10659	Krueppel-associated box (1);	.	.	.	.	T	0.07773	0.0195	L	0.31065	0.9	0.20074	N	0.999936	D	0.54964	0.969	P	0.55923	0.787	T	0.30001	-0.9993	9	0.40728	T	0.16	.	2.5461	0.04737	0.0:0.448:0.3238:0.2282	.	69	P17017	ZNF14_HUMAN	D	69	ENSP00000340514:E69D	ENSP00000340514:E69D	E	-	3	2	ZNF14	19684883	0.000000	0.05858	0.003000	0.11579	0.790000	0.44656	-0.541000	0.06099	0.016000	0.14998	-0.515000	0.04445	GAG	ZNF14	-	pfscan_Krueppel-associated_box	ENSG00000105708		0.323	ZNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF14	HGNC	protein_coding	OTTHUMT00000460775.1	78	0.00	0	C	NM_021030		19823883	19823883	-1	no_errors	ENST00000344099	ensembl	human	known	69_37n	missense	46	16.36	9	SNP	0.656	G
ZNF146	7705	genome.wustl.edu	37	19	36728111	36728111	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:36728111C>G	ENST00000443387.2	+	4	1761	c.769C>G	c.(769-771)Ctg>Gtg	p.L257V	ZNF565_ENST00000355114.5_Intron|ZNF146_ENST00000456324.1_Missense_Mutation_p.L257V	NM_007145.2	NP_009076.2	Q15072	OZF_HUMAN	zinc finger protein 146	257	Interaction with TERF2IP.				regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11	Esophageal squamous(110;0.162)					AACCCTTGCTCTGCATTTGAG	0.453																																						dbGAP											0													104.0	93.0	96.0					19																	36728111		2203	4300	6503	-	-	-	SO:0001583	missense	0			X70394	CCDS12492.1	19q13.1	2013-01-08				ENSG00000167635		"""Zinc fingers, C2H2-type"""	12931	protein-coding gene	gene with protein product		601505				10449921, 8641144	Standard	NM_001099639		Approved	OZF	uc010eeu.3	Q15072		ENST00000443387.2:c.769C>G	19.37:g.36728111C>G	ENSP00000392095:p.Leu257Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2TB94	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L257V	ENST00000443387.2	37	c.769	CCDS12492.1	19	.	.	.	.	.	.	.	.	.	.	C	9.632	1.136642	0.21123	.	.	ENSG00000167635	ENST00000443387;ENST00000456324	T;T	0.17370	2.28;2.28	4.48	3.44	0.39384	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.31697	N	0.007214	T	0.10637	0.0260	N	0.11284	0.12	0.09310	N	1	P	0.36354	0.549	P	0.45099	0.469	T	0.30880	-0.9963	10	0.12103	T	0.63	-1.9706	7.9775	0.30164	0.1592:0.7534:0.0:0.0873	.	257	Q15072	OZF_HUMAN	V	257	ENSP00000392095:L257V;ENSP00000400391:L257V	ENSP00000392095:L257V	L	+	1	2	ZNF146	41419951	0.000000	0.05858	1.000000	0.80357	0.992000	0.81027	-0.579000	0.05834	1.485000	0.48380	0.561000	0.74099	CTG	ZNF146	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000167635		0.453	ZNF146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF146	HGNC	protein_coding	OTTHUMT00000451706.1	78	0.00	0	C	NM_007145		36728111	36728111	+1	no_errors	ENST00000443387	ensembl	human	known	69_37n	missense	51	31.08	23	SNP	0.272	G
ZNF135	7694	genome.wustl.edu	37	19	58579109	58579109	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:58579109C>T	ENST00000313434.5	+	5	1358	c.1257C>T	c.(1255-1257)ttC>ttT	p.F419F	ZNF135_ENST00000401053.4_Silent_p.F443F|RN7SL526P_ENST00000469492.2_RNA|ZNF135_ENST00000506786.1_Silent_p.F377F|ZNF135_ENST00000511556.1_Silent_p.F431F|ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000439855.2_Silent_p.F419F	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	419					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)|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(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		GGAAAGCCTTCAGTCAGAGCA	0.537																																						dbGAP											0													71.0	74.0	73.0					19																	58579109		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293		"""Zinc fingers, C2H2-type"", ""-"""	12919	protein-coding gene	gene with protein product		604077	"""zinc finger protein 61"", ""zinc finger protein 135 (clone pHZ-17)"""	ZNF61, ZNF78L1		7557990, 1505991	Standard	NM_003436		Approved	pHZ-17	uc002qrg.3	P52742		ENST00000313434.5:c.1257C>T	19.37:g.58579109C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	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.S437L	ENST00000313434.5	37	c.1310		19	.	.	.	.	.	.	.	.	.	.	C	0.038	-1.296408	0.01364	.	.	ENSG00000176293	ENST00000391699	.	.	.	3.1	0.933	0.19471	.	.	.	.	.	T	0.52581	0.1743	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44345	-0.9334	4	.	.	.	.	6.3387	0.21310	0.0:0.642:0.0:0.358	.	.	.	.	L	437	.	.	S	+	2	0	ZNF135	63270921	0.993000	0.37304	0.987000	0.45799	0.003000	0.03518	0.930000	0.28858	0.638000	0.30545	-0.259000	0.10710	TCA	ZNF135	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000176293		0.537	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	ZNF135	HGNC	protein_coding	OTTHUMT00000361899.2	69	0.00	0	C	NM_003436		58579109	58579109	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000391699	ensembl	human	putative	69_37n	missense	51	20.31	13	SNP	0.997	T
ZNF148	7707	genome.wustl.edu	37	3	124952625	124952625	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:124952625delC	ENST00000360647.4	-	9	1430	c.945delG	c.(943-945)aagfs	p.K316fs	ZNF148_ENST00000485866.1_Frame_Shift_Del_p.K316fs|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000484491.1_Frame_Shift_Del_p.K316fs|ZNF148_ENST00000492394.1_Frame_Shift_Del_p.K316fs|ZNF148_ENST00000497929.1_5'UTR|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000468369.1_Intron	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	316					cellular defense response (GO:0006968)|gamete generation (GO:0007276)|negative regulation of gene expression (GO:0010629)|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)|protein complex assembly (GO:0006461)|substantia nigra development (GO:0021762)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						TCTGCCTTTTCTTTTTTGGCA	0.378																																						dbGAP											0													116.0	115.0	116.0					3																	124952625		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			U09851	CCDS3031.1	3q21.2	2013-01-08	2006-06-13		ENSG00000163848	ENSG00000163848		"""Zinc fingers, C2H2-type"""	12933	protein-coding gene	gene with protein product		601897	"""zinc finger protein 148 (pHZ-52)"""			7557990, 9925940	Standard	NM_021964		Approved	BERF-1, ZBP-89, BFCOL1, HT-BETA, ZFP148, pHZ-52	uc003ehx.4	Q9UQR1	OTTHUMG00000159448	ENST00000360647.4:c.945delG	3.37:g.124952625delC	ENSP00000353863:p.Lys316fs	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DN27|O00389|O43591|Q58EY5|Q6PJ98	Frame_Shift_Del	DEL	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R317fs	ENST00000360647.4	37	c.945	CCDS3031.1	3																																																																																			ZNF148	-	NULL	ENSG00000163848		0.378	ZNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF148	HGNC	protein_coding	OTTHUMT00000355452.4	172	0.00	0	C	NM_021964		124952625	124952625	-1	no_errors	ENST00000360647	ensembl	human	known	69_37n	frame_shift_del	115	18.83	29	DEL	1.000	-
ZNF148	7707	genome.wustl.edu	37	3	125032181	125032181	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:125032181G>C	ENST00000360647.4	-	4	789	c.304C>G	c.(304-306)Caa>Gaa	p.Q102E	ZNF148_ENST00000485866.1_Missense_Mutation_p.Q102E|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000484491.1_Missense_Mutation_p.Q102E|ZNF148_ENST00000492394.1_Missense_Mutation_p.Q102E|ZNF148_ENST00000468369.1_Intron	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	102					cellular defense response (GO:0006968)|gamete generation (GO:0007276)|negative regulation of gene expression (GO:0010629)|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)|protein complex assembly (GO:0006461)|substantia nigra development (GO:0021762)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						TGTAGTCCTTGAGGAAGTCTT	0.348																																						dbGAP											0													276.0	229.0	245.0					3																	125032181		2203	4300	6503	-	-	-	SO:0001583	missense	0			U09851	CCDS3031.1	3q21.2	2013-01-08	2006-06-13		ENSG00000163848	ENSG00000163848		"""Zinc fingers, C2H2-type"""	12933	protein-coding gene	gene with protein product		601897	"""zinc finger protein 148 (pHZ-52)"""			7557990, 9925940	Standard	NM_021964		Approved	BERF-1, ZBP-89, BFCOL1, HT-BETA, ZFP148, pHZ-52	uc003ehx.4	Q9UQR1	OTTHUMG00000159448	ENST00000360647.4:c.304C>G	3.37:g.125032181G>C	ENSP00000353863:p.Gln102Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DN27|O00389|O43591|Q58EY5|Q6PJ98	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q102E	ENST00000360647.4	37	c.304	CCDS3031.1	3	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337679	0.81911	.	.	ENSG00000163848	ENST00000360647;ENST00000484491;ENST00000492394;ENST00000485866;ENST00000543574	T;T;T;T	0.07567	3.18;3.18;3.18;3.18	5.15	5.15	0.70609	.	0.263330	0.37623	N	0.002005	T	0.06142	0.0159	N	0.19112	0.55	0.80722	D	1	P	0.34662	0.462	B	0.30943	0.122	T	0.39099	-0.9630	10	0.08837	T	0.75	-10.0646	18.8154	0.92075	0.0:0.0:1.0:0.0	.	102	Q9UQR1	ZN148_HUMAN	E	102	ENSP00000353863:Q102E;ENSP00000420335:Q102E;ENSP00000419322:Q102E;ENSP00000420448:Q102E	ENSP00000353863:Q102E	Q	-	1	0	ZNF148	126514871	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.436000	0.66538	2.669000	0.90835	0.650000	0.86243	CAA	ZNF148	-	NULL	ENSG00000163848		0.348	ZNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF148	HGNC	protein_coding	OTTHUMT00000355452.4	210	0.00	0	G	NM_021964		125032181	125032181	-1	no_errors	ENST00000360647	ensembl	human	known	69_37n	missense	191	19.41	46	SNP	1.000	C
ZNF180	7733	genome.wustl.edu	37	19	44980940	44980940	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:44980940G>A	ENST00000221327.4	-	5	2039	c.1758C>T	c.(1756-1758)ttC>ttT	p.F586F	ZNF180_ENST00000592529.1_Silent_p.F559F|AC069278.4_ENST00000591684.1_lincRNA|ZNF180_ENST00000585514.1_5'Flank|ZNF180_ENST00000391956.4_Silent_p.F561F	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	586					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(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				AACTCTGGCTGAAGGATTTCC	0.418																																					Esophageal Squamous(180;1353 2003 32862 46574 49854)	dbGAP											0													108.0	108.0	108.0					19																	44980940		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			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.1758C>T	19.37:g.44980940G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	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.F586	ENST00000221327.4	37	c.1758	CCDS12639.1	19																																																																																			ZNF180	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000167384		0.418	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF180	HGNC	protein_coding	OTTHUMT00000451601.1	124	0.79	1	G	NM_013256		44980940	44980940	-1	no_errors	ENST00000221327	ensembl	human	known	69_37n	silent	87	30.95	39	SNP	0.992	A
ZNF180	7733	genome.wustl.edu	37	19	44981513	44981513	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:44981513G>C	ENST00000221327.4	-	5	1466	c.1185C>G	c.(1183-1185)caC>caG	p.H395Q	ZNF180_ENST00000592529.1_Missense_Mutation_p.H368Q|AC069278.4_ENST00000591684.1_lincRNA|ZNF180_ENST00000585514.1_5'Flank|ZNF180_ENST00000391956.4_Missense_Mutation_p.H370Q	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	395					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(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				GGGAAACAAGGTGCGAGCTCC	0.453																																					Esophageal Squamous(180;1353 2003 32862 46574 49854)	dbGAP											0																																										-	-	-	SO:0001583	missense	0			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.1185C>G	19.37:g.44981513G>C	ENSP00000221327:p.His395Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	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.H395Q	ENST00000221327.4	37	c.1185	CCDS12639.1	19	.	.	.	.	.	.	.	.	.	.	G	9.279	1.047566	0.19827	.	.	ENSG00000167384	ENST00000221327;ENST00000391956	T;T	0.07216	3.21;3.21	5.47	1.96	0.26148	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44285	D	0.000464	T	0.04861	0.0131	N	0.04636	-0.2	0.80722	D	1	P;D;D	0.53312	0.861;0.959;0.959	B;P;P	0.46718	0.302;0.525;0.525	T	0.53070	-0.8490	10	0.28530	T	0.3	-10.0953	10.2333	0.43268	0.2368:0.0:0.7632:0.0	.	370;394;395	G5E9B8;Q58F03;Q9UJW8	.;.;ZN180_HUMAN	Q	395;370	ENSP00000221327:H395Q;ENSP00000375818:H370Q	ENSP00000221327:H395Q	H	-	3	2	ZNF180	49673353	0.000000	0.05858	0.998000	0.56505	0.774000	0.43823	-0.532000	0.06164	0.587000	0.29643	0.655000	0.94253	CAC	ZNF180	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000167384		0.453	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF180	HGNC	protein_coding	OTTHUMT00000451601.1	74	0.00	0	G	NM_013256		44981513	44981513	-1	no_errors	ENST00000221327	ensembl	human	known	69_37n	missense	29	29.27	12	SNP	1.000	C
ZNF181	339318	genome.wustl.edu	37	19	35232203	35232203	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:35232203C>A	ENST00000492450.1	+	4	1006	c.917C>A	c.(916-918)tCa>tAa	p.S306*	ZNF181_ENST00000392232.3_Nonsense_Mutation_p.S350*|ZNF181_ENST00000459757.2_Nonsense_Mutation_p.S305*			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	306					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(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			AGCCATGTCTCATCACTTACT	0.413																																						dbGAP											0													89.0	86.0	87.0					19																	35232203		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC104759, H54888	CCDS32990.2, CCDS46043.1	19q13.13	2013-01-08	2006-04-27		ENSG00000197841	ENSG00000197841		"""Zinc fingers, C2H2-type"", ""-"""	12971	protein-coding gene	gene with protein product		606741	"""zinc finger protein 181 (HHZ181)"""				Standard	NM_001029997		Approved	HHZ181, MGC44316	uc002nvu.3	Q2M3W8	OTTHUMG00000157508	ENST00000492450.1:c.917C>A	19.37:g.35232203C>A	ENSP00000420727:p.Ser306*	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZKX3|Q49A75	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S306*	ENST00000492450.1	37	c.917	CCDS32990.2	19	.	.	.	.	.	.	.	.	.	.	C	17.94	3.511155	0.64522	.	.	ENSG00000197841	ENST00000392232;ENST00000425140;ENST00000492450;ENST00000459757	.	.	.	2.89	2.89	0.33648	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.0389	0.30511	0.0:0.7474:0.2526:0.0	.	.	.	.	X	350;305;306;305	.	ENSP00000376065:S350X	S	+	2	0	ZNF181	39924043	0.000000	0.05858	0.780000	0.31762	0.722000	0.41435	-0.031000	0.12287	1.922000	0.55676	0.491000	0.48974	TCA	ZNF181	-	smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2	ENSG00000197841		0.413	ZNF181-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	ZNF181	HGNC	protein_coding	OTTHUMT00000349005.3	77	0.00	0	C	NM_001029997		35232203	35232203	+1	no_errors	ENST00000492450	ensembl	human	known	69_37n	nonsense	68	18.07	15	SNP	0.041	A
ZNF180	7733	genome.wustl.edu	37	19	44981616	44981616	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:44981616G>A	ENST00000221327.4	-	5	1363	c.1082C>T	c.(1081-1083)tCc>tTc	p.S361F	ZNF180_ENST00000592529.1_Missense_Mutation_p.S334F|AC069278.4_ENST00000591684.1_lincRNA|ZNF180_ENST00000585514.1_5'Flank|ZNF180_ENST00000391956.4_Missense_Mutation_p.S336F	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	361					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(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				CCAGCTGAAGGATTTCCCACA	0.413																																					Esophageal Squamous(180;1353 2003 32862 46574 49854)	dbGAP											0													81.0	82.0	82.0					19																	44981616		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.1082C>T	19.37:g.44981616G>A	ENSP00000221327:p.Ser361Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	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.S361F	ENST00000221327.4	37	c.1082	CCDS12639.1	19	.	.	.	.	.	.	.	.	.	.	G	10.65	1.411196	0.25465	.	.	ENSG00000167384	ENST00000221327;ENST00000391956	T;T	0.01172	5.23;5.23	5.47	1.9	0.25705	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.583164	0.14445	N	0.319156	T	0.01905	0.0060	M	0.71296	2.17	0.09310	N	0.999992	B;B;B	0.19331	0.028;0.035;0.035	B;B;B	0.22152	0.022;0.038;0.038	T	0.35475	-0.9787	10	0.87932	D	0	-0.9198	6.2703	0.20951	0.1694:0.4156:0.415:0.0	.	336;360;361	G5E9B8;Q58F03;Q9UJW8	.;.;ZN180_HUMAN	F	361;336	ENSP00000221327:S361F;ENSP00000375818:S336F	ENSP00000221327:S361F	S	-	2	0	ZNF180	49673456	0.000000	0.05858	0.973000	0.42090	0.975000	0.68041	-0.022000	0.12480	0.627000	0.30340	0.655000	0.94253	TCC	ZNF180	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000167384		0.413	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF180	HGNC	protein_coding	OTTHUMT00000451601.1	72	0.00	0	G	NM_013256		44981616	44981616	-1	no_errors	ENST00000221327	ensembl	human	known	69_37n	missense	34	19.05	8	SNP	0.080	A
ZNF182	7569	genome.wustl.edu	37	X	47836625	47836625	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:47836625C>G	ENST00000396965.1	-	7	1211	c.861G>C	c.(859-861)gaG>gaC	p.E287D	ZNF182_ENST00000305127.6_Missense_Mutation_p.E287D|ZNF182_ENST00000376943.3_Missense_Mutation_p.E268D	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	287					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(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						CAAAGGGTCTCTCTCCTGTAT	0.408																																						dbGAP											0													79.0	70.0	73.0					X																	47836625		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK122874, R98366	CCDS35235.1, CCDS35236.1	Xp11.23	2013-01-08	2006-05-10	2006-05-10	ENSG00000147118	ENSG00000147118		"""Zinc fingers, C2H2-type"", ""-"""	13001	protein-coding gene	gene with protein product		314993	"""zinc finger protein 182 (HHZ150)"", ""zinc finger protein 21 (KOX 14)"""	ZNF21		8088786, 2014798, 8914609	Standard	NM_001178099		Approved	KOX14, HHZ150, Zfp182	uc004dit.3	P17025	OTTHUMG00000021460	ENST00000396965.1:c.861G>C	X.37:g.47836625C>G	ENSP00000380165:p.Glu287Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A2IDD7|Q3KP67|Q96QH7	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.E287D	ENST00000396965.1	37	c.861	CCDS35236.1	X	.	.	.	.	.	.	.	.	.	.	C	15.28	2.785369	0.49997	.	.	ENSG00000147118	ENST00000376943;ENST00000396965;ENST00000305127	T;T;T	0.26810	1.71;1.71;1.71	4.53	1.76	0.24704	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.32406	0.0828	L	0.31294	0.92	0.31272	N	0.691611	B;P;P	0.48998	0.108;0.888;0.918	B;P;P	0.62649	0.247;0.905;0.859	T	0.30387	-0.9980	9	0.66056	D	0.02	.	7.5273	0.27662	0.0:0.6904:0.0:0.3096	.	267;268;287	B4DRM0;Q96QH7;P17025	.;.;ZN182_HUMAN	D	268;287;287	ENSP00000366142:E268D;ENSP00000380165:E287D;ENSP00000306351:E287D	ENSP00000306351:E287D	E	-	3	2	ZNF182	47721569	0.829000	0.29322	0.995000	0.50966	0.993000	0.82548	0.600000	0.24104	0.123000	0.18342	-0.197000	0.12766	GAG	ZNF182	-	pfscan_Znf_C2H2	ENSG00000147118		0.408	ZNF182-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF182	HGNC	protein_coding	OTTHUMT00000277055.1	102	0.00	0	C	NM_006962		47836625	47836625	-1	no_errors	ENST00000305127	ensembl	human	known	69_37n	missense	61	50.41	62	SNP	1.000	G
ZNF189	7743	genome.wustl.edu	37	9	104170579	104170579	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:104170579C>T	ENST00000339664.2	+	3	658	c.529C>T	c.(529-531)Cag>Tag	p.Q177*	ZNF189_ENST00000374861.3_Nonsense_Mutation_p.Q163*|ZNF189_ENST00000259395.4_Nonsense_Mutation_p.Q135*	NM_001278240.1	NP_001265169.1	O75820	ZN189_HUMAN	zinc finger protein 189	177					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GAAACCTTTTCAGTGCAATGA	0.408																																						dbGAP											0													82.0	82.0	82.0					9																	104170579		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF025770	CCDS6754.1, CCDS6755.1, CCDS65096.1, CCDS75867.1	9q22-q31	2013-01-08			ENSG00000136870	ENSG00000136870		"""Zinc fingers, C2H2-type"", ""-"""	12980	protein-coding gene	gene with protein product		603132				9653648	Standard	NM_003452		Approved		uc004bbh.2	O75820	OTTHUMG00000020383	ENST00000339664.2:c.529C>T	9.37:g.104170579C>T	ENSP00000342019:p.Gln177*	Somatic		WXS	Illumina GAIIx	Phase_IV	O75802|Q5T7D7|Q5T7D8|Q5T7D9|Q9UBL4|Q9UPE9|Q9UPF0|Q9UPF1	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.Q177*	ENST00000339664.2	37	c.529	CCDS6754.1	9	.	.	.	.	.	.	.	.	.	.	C	21.1	4.093710	0.76870	.	.	ENSG00000136870	ENST00000374861;ENST00000339664;ENST00000259395	.	.	.	4.66	4.66	0.58398	.	0.000000	0.46442	D	0.000288	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.5539	0.45105	0.1922:0.8078:0.0:0.0	.	.	.	.	X	163;177;135	.	ENSP00000259395:Q135X	Q	+	1	0	ZNF189	103210400	0.000000	0.05858	1.000000	0.80357	0.992000	0.81027	-0.293000	0.08320	2.873000	0.98535	0.563000	0.77884	CAG	ZNF189	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000136870		0.408	ZNF189-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF189	HGNC	protein_coding	OTTHUMT00000053447.1	72	0.00	0	C	NM_003452		104170579	104170579	+1	no_errors	ENST00000339664	ensembl	human	known	69_37n	nonsense	74	17.78	16	SNP	0.967	T
ZKSCAN8	7745	genome.wustl.edu	37	6	28116382	28116382	+	Missense_Mutation	SNP	G	G	A	rs202039260		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:28116382G>A	ENST00000330236.6	+	2	381	c.197G>A	c.(196-198)cGa>cAa	p.R66Q	ZKSCAN8_ENST00000457389.2_Missense_Mutation_p.R66Q	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2	Q15776	ZKSC8_HUMAN	zinc finger with KRAB and SCAN domains 8	66	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				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)										CTAGGACCCCGAGAAGCTCTG	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		20385	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													100.0	92.0	94.0					6																	28116382		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4645.1	6p21	2013-01-09	2013-01-09	2013-01-09	ENSG00000198315	ENSG00000198315		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12983	protein-coding gene	gene with protein product		602240	"""zinc finger protein 192"""	ZNF192			Standard	NM_001278119		Approved	LD5-1, ZSCAN40	uc003nkn.2	Q15776	OTTHUMG00000014510	ENST00000330236.6:c.197G>A	6.37:g.28116382G>A	ENSP00000332750:p.Arg66Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3D4|B4DYF1|Q4VAR1|Q4VAR2|Q4VAR3|Q9H4T1	Missense_Mutation	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.R66Q	ENST00000330236.6	37	c.197	CCDS4645.1	6	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	18.55	3.649279	0.67358	.	.	ENSG00000198315	ENST00000330236;ENST00000457389;ENST00000536028	T;T;T	0.04809	3.55;3.55;3.55	5.02	5.02	0.67125	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.42294	D	0.000723	T	0.11965	0.0291	M	0.81341	2.54	0.40068	D	0.975975	D	0.71674	0.998	D	0.79108	0.992	T	0.27020	-1.0086	10	0.10902	T	0.67	.	16.104	0.81205	0.0:0.0:1.0:0.0	.	66	Q15776	ZN192_HUMAN	Q	66	ENSP00000332750:R66Q;ENSP00000402948:R66Q;ENSP00000439117:R66Q	ENSP00000332750:R66Q	R	+	2	0	ZNF192	28224361	0.989000	0.36119	1.000000	0.80357	0.998000	0.95712	2.801000	0.47908	2.712000	0.92718	0.563000	0.77884	CGA	ZNF192	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN	ENSG00000198315		0.552	ZKSCAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF192	HGNC	protein_coding	OTTHUMT00000040178.2	65	0.00	0	G			28116382	28116382	+1	no_errors	ENST00000330236	ensembl	human	known	69_37n	missense	46	29.23	19	SNP	1.000	A
ZNF195	7748	genome.wustl.edu	37	11	3381001	3381001	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:3381001C>T	ENST00000399602.4	-	6	1363	c.1237G>A	c.(1237-1239)Gag>Aag	p.E413K	ZNF195_ENST00000354599.6_Missense_Mutation_p.E341K|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000343338.7_Missense_Mutation_p.E345K|ZNF195_ENST00000005082.9_Missense_Mutation_p.E390K|ZNF195_ENST00000429541.2_Missense_Mutation_p.E345K|ZNF195_ENST00000526601.1_Missense_Mutation_p.E394K	NM_001130520.2	NP_001123992.1	O14628	ZN195_HUMAN	zinc finger protein 195	413					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		TCACATTCCTCACATTTGAAA	0.413																																						dbGAP											0													121.0	122.0	122.0					11																	3381001		2094	4240	6334	-	-	-	SO:0001583	missense	0				CCDS41604.1, CCDS44521.1, CCDS44522.1, CCDS55736.1, CCDS55737.1, CCDS58111.1	11p15.5	2013-01-08			ENSG00000005801	ENSG00000005801		"""Zinc fingers, C2H2-type"", ""-"""	12986	protein-coding gene	gene with protein product		602187				9344677	Standard	NM_001130520		Approved		uc001lxt.3	O14628	OTTHUMG00000011694	ENST00000399602.4:c.1237G>A	11.37:g.3381001C>T	ENSP00000382511:p.Glu413Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K234|B3KTK2|B4DEL0|C9JLY9|L7MNK2|Q0VAJ6|Q658N8|Q6ZNA9	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.E413K	ENST00000399602.4	37	c.1237	CCDS44522.1	11	.	.	.	.	.	.	.	.	.	.	c	16.84	3.235154	0.58886	.	.	ENSG00000005801	ENST00000354599;ENST00000399602;ENST00000343338;ENST00000429541;ENST00000005082;ENST00000526601	T;T;T;T;T;T	0.07216	3.21;3.21;3.21;3.21;3.21;3.21	1.27	0.242	0.15498	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11024	0.0269	L	0.37507	1.11	0.09310	N	1	P;B;P;B;P;B	0.51791	0.593;0.007;0.936;0.006;0.948;0.006	P;B;P;B;P;B	0.57846	0.828;0.003;0.533;0.002;0.663;0.001	T	0.29427	-1.0012	9	0.27785	T	0.31	.	3.2721	0.06886	0.0:0.4703:0.0:0.5297	.	394;272;390;345;413;341	O14628-6;Q59EZ7;O14628-5;O14628-7;O14628;O14628-4	.;.;.;.;ZN195_HUMAN;.	K	341;413;345;345;390;394	ENSP00000346613:E341K;ENSP00000382511:E413K;ENSP00000344483:E345K;ENSP00000387998:E345K;ENSP00000005082:E390K;ENSP00000435828:E394K	ENSP00000005082:E390K	E	-	1	0	ZNF195	3337577	0.000000	0.05858	0.005000	0.12908	0.860000	0.49131	-3.352000	0.00501	0.638000	0.30545	0.305000	0.20034	GAG	ZNF195	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000005801		0.413	ZNF195-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF195	HGNC	protein_coding	OTTHUMT00000032321.2	51	0.00	0	C			3381001	3381001	-1	no_errors	ENST00000399602	ensembl	human	known	69_37n	missense	78	18.75	18	SNP	0.161	T
ZNF197	10168	genome.wustl.edu	37	3	44673650	44673650	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:44673650C>G	ENST00000396058.1	+	3	771	c.604C>G	c.(604-606)Caa>Gaa	p.Q202E	RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000344387.4_Missense_Mutation_p.Q202E|ZNF197_ENST00000383745.2_Missense_Mutation_p.Q202E|ZNF197_ENST00000383744.4_Missense_Mutation_p.Q202E			O14709	ZN197_HUMAN	zinc finger protein 197	202					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)		CCCAAGAAATCAATTAATGGC	0.502																																						dbGAP											0													219.0	219.0	219.0					3																	44673650		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.604C>G	3.37:g.44673650C>G	ENSP00000379370:p.Gln202Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAH8|Q86VG0	Missense_Mutation	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.Q202E	ENST00000396058.1	37	c.604	CCDS2717.1	3	.	.	.	.	.	.	.	.	.	.	C	11.71	1.719984	0.30503	.	.	ENSG00000186448	ENST00000383744;ENST00000536299;ENST00000344387;ENST00000383745;ENST00000396058	T;T;T;T	0.06608	5.62;3.28;5.62;3.28	5.02	4.15	0.48705	.	0.000000	0.36815	N	0.002385	T	0.08403	0.0209	L	0.27053	0.805	0.21652	N	0.999602	P;P	0.49185	0.92;0.865	P;P	0.54706	0.526;0.759	T	0.26573	-1.0099	10	0.15952	T	0.53	.	9.3901	0.38367	0.0:0.9025:0.0:0.0975	.	202;202	Q86VG0;O14709	.;ZN197_HUMAN	E	202	ENSP00000373250:Q202E;ENSP00000345809:Q202E;ENSP00000373251:Q202E;ENSP00000379370:Q202E	ENSP00000345809:Q202E	Q	+	1	0	ZNF197	44648654	0.983000	0.35010	0.926000	0.36857	0.995000	0.86356	3.267000	0.51577	1.464000	0.47987	0.591000	0.81541	CAA	ZNF197	-	NULL	ENSG00000186448		0.502	ZNF197-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF197	HGNC	protein_coding	OTTHUMT00000256747.4	129	0.00	0	C	NM_006991		44673650	44673650	+1	no_errors	ENST00000344387	ensembl	human	known	69_37n	missense	129	28.33	51	SNP	0.917	G
ZNF20	7568	genome.wustl.edu	37	19	12246603	12246603	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:12246603G>C	ENST00000334213.5	-	2	344	c.120C>G	c.(118-120)ttC>ttG	p.F40L	ZNF20_ENST00000600335.1_Missense_Mutation_p.F37L|ZNF625-ZNF20_ENST00000430024.1_3'UTR|ZNF20_ENST00000485451.1_5'UTR	NM_001203250.1|NM_021143.3	NP_001190179.1|NP_066966.2	P17024	ZNF20_HUMAN	zinc finger protein 20	40	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)			endometrium(1)|kidney(1)|lung(6)	8						TCAGGTTCTTGAAGGTTTCCT	0.453																																						dbGAP											0													113.0	114.0	113.0					19																	12246603		2201	4300	6501	-	-	-	SO:0001583	missense	0			X52344	CCDS45986.1	19p13.2	2013-01-08	2006-05-10		ENSG00000132010	ENSG00000132010		"""Zinc fingers, C2H2-type"", ""-"""	12992	protein-coding gene	gene with protein product		194557	"""zinc finger protein 20 (KOX 13)"""				Standard	NM_021143		Approved	KOX13	uc002mtf.2	P17024	OTTHUMG00000156409	ENST00000334213.5:c.120C>G	19.37:g.12246603G>C	ENSP00000335437:p.Phe40Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N457|Q9UG41	Missense_Mutation	SNP	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F40L	ENST00000334213.5	37	c.120	CCDS45986.1	19	.	.	.	.	.	.	.	.	.	.	G	11.40	1.627792	0.28978	.	.	ENSG00000132010	ENST00000334213;ENST00000292241;ENST00000418866	T;T	0.01902	4.57;4.57	0.94	-0.378	0.12497	Krueppel-associated box (4);	.	.	.	.	T	0.01940	0.0061	L	0.31526	0.94	0.23798	N	0.996816	B	0.19935	0.04	B	0.25884	0.064	T	0.46582	-0.9181	9	0.37606	T	0.19	.	4.6008	0.12352	0.0:0.413:0.5869:0.0	.	40	P17024	ZNF20_HUMAN	L	40;40;37	ENSP00000335437:F40L;ENSP00000390115:F37L	ENSP00000292241:F40L	F	-	3	2	ZNF20	12107603	0.000000	0.05858	0.301000	0.25044	0.651000	0.38670	-0.609000	0.05635	-0.078000	0.12730	0.313000	0.20887	TTC	ZNF20	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000132010		0.453	ZNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF20	HGNC	protein_coding	OTTHUMT00000344101.1	225	0.00	0	G	NM_021143		12246603	12246603	-1	no_errors	ENST00000334213	ensembl	human	known	69_37n	missense	136	16.05	26	SNP	0.595	C
ZNF200	7752	genome.wustl.edu	37	16	3274081	3274081	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:3274081C>T	ENST00000431561.3	-	5	1611	c.999G>A	c.(997-999)gaG>gaA	p.E333E	ZNF200_ENST00000575948.1_Silent_p.E332E|ZNF200_ENST00000414144.2_Silent_p.E333E|ZNF200_ENST00000396871.4_Silent_p.E332E|ZNF200_ENST00000396870.4_Silent_p.E332E|ZNF200_ENST00000396868.3_Silent_p.E332E|AJ003147.9_ENST00000576468.1_RNA	NM_001145447.1|NM_003454.3	NP_001138919.1|NP_003445.2	P98182	ZN200_HUMAN	zinc finger protein 200	333					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						TAAATATCTTCTCCCTTATAT	0.423																																						dbGAP											0													138.0	144.0	142.0					16																	3274081		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			AF060866	CCDS10497.1, CCDS42112.1, CCDS45395.1	16p13.3	2013-01-08			ENSG00000010539	ENSG00000010539		"""Zinc fingers, C2H2-type"""	12993	protein-coding gene	gene with protein product		603231				9288094, 9787081	Standard	NM_003454		Approved		uc002cuk.2	P98182	OTTHUMG00000129317	ENST00000431561.3:c.999G>A	16.37:g.3274081C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DUB7|D3DUB8|O15361|Q5XKM5|Q7Z5V1	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E333	ENST00000431561.3	37	c.999	CCDS10497.1	16																																																																																			ZNF200	-	pfscan_Znf_C2H2	ENSG00000010539		0.423	ZNF200-005	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZNF200	HGNC	protein_coding	OTTHUMT00000437545.1	85	0.00	0	C			3274081	3274081	-1	no_errors	ENST00000414144	ensembl	human	known	69_37n	silent	129	19.88	32	SNP	0.962	T
ZNF200	7752	genome.wustl.edu	37	16	3274435	3274435	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:3274435C>A	ENST00000431561.3	-	5	1257	c.645G>T	c.(643-645)atG>atT	p.M215I	ZNF200_ENST00000575948.1_Missense_Mutation_p.M214I|ZNF200_ENST00000414144.2_Missense_Mutation_p.M215I|ZNF200_ENST00000396871.4_Missense_Mutation_p.M214I|ZNF200_ENST00000396870.4_Missense_Mutation_p.M214I|ZNF200_ENST00000396868.3_Missense_Mutation_p.M214I|AJ003147.9_ENST00000576468.1_RNA	NM_001145447.1|NM_003454.3	NP_001138919.1|NP_003445.2	P98182	ZN200_HUMAN	zinc finger protein 200	215					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						ACAGATTTCTCATTTTCCTTT	0.393																																						dbGAP											0													124.0	118.0	120.0					16																	3274435		2197	4300	6497	-	-	-	SO:0001583	missense	0			AF060866	CCDS10497.1, CCDS42112.1, CCDS45395.1	16p13.3	2013-01-08			ENSG00000010539	ENSG00000010539		"""Zinc fingers, C2H2-type"""	12993	protein-coding gene	gene with protein product		603231				9288094, 9787081	Standard	NM_003454		Approved		uc002cuk.2	P98182	OTTHUMG00000129317	ENST00000431561.3:c.645G>T	16.37:g.3274435C>A	ENSP00000395723:p.Met215Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DUB7|D3DUB8|O15361|Q5XKM5|Q7Z5V1	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.M215I	ENST00000431561.3	37	c.645	CCDS10497.1	16	.	.	.	.	.	.	.	.	.	.	C	5.036	0.192311	0.09599	.	.	ENSG00000010539	ENST00000396870;ENST00000396868;ENST00000396871;ENST00000414144;ENST00000431561	T;T;T	0.05717	3.42;3.4;3.5	5.7	1.22	0.21188	.	0.755865	0.11724	N	0.535543	T	0.02727	0.0082	N	0.08118	0	0.09310	N	0.999998	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.45352	-0.9267	10	0.24483	T	0.36	-20.7047	3.0122	0.06048	0.3213:0.4357:0.1553:0.0877	.	214;215;214	D3DUB7;P98182;P98182-2	.;ZN200_HUMAN;.	I	215;214;214;214;215	ENSP00000380077:M214I;ENSP00000380080:M214I;ENSP00000395723:M215I	ENSP00000380077:M214I	M	-	3	0	ZNF200	3214436	0.003000	0.15002	0.999000	0.59377	0.564000	0.35744	-0.212000	0.09319	1.393000	0.46605	0.455000	0.32223	ATG	ZNF200	-	NULL	ENSG00000010539		0.393	ZNF200-005	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZNF200	HGNC	protein_coding	OTTHUMT00000437545.1	141	0.00	0	C			3274435	3274435	-1	no_errors	ENST00000414144	ensembl	human	known	69_37n	missense	152	15.08	27	SNP	0.634	A
ZNF200	7752	genome.wustl.edu	37	16	3274506	3274506	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:3274506C>A	ENST00000431561.3	-	5	1186	c.574G>T	c.(574-576)Gtc>Ttc	p.V192F	ZNF200_ENST00000575948.1_Missense_Mutation_p.V191F|ZNF200_ENST00000414144.2_Missense_Mutation_p.V192F|ZNF200_ENST00000396871.4_Missense_Mutation_p.V191F|ZNF200_ENST00000396870.4_Missense_Mutation_p.V191F|ZNF200_ENST00000396868.3_Missense_Mutation_p.V191F|AJ003147.9_ENST00000576468.1_RNA	NM_001145447.1|NM_003454.3	NP_001138919.1|NP_003445.2	P98182	ZN200_HUMAN	zinc finger protein 200	192					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						TGCTGAGAGACCAAGGAAGAA	0.393																																						dbGAP											0													120.0	118.0	118.0					16																	3274506		2197	4300	6497	-	-	-	SO:0001583	missense	0			AF060866	CCDS10497.1, CCDS42112.1, CCDS45395.1	16p13.3	2013-01-08			ENSG00000010539	ENSG00000010539		"""Zinc fingers, C2H2-type"""	12993	protein-coding gene	gene with protein product		603231				9288094, 9787081	Standard	NM_003454		Approved		uc002cuk.2	P98182	OTTHUMG00000129317	ENST00000431561.3:c.574G>T	16.37:g.3274506C>A	ENSP00000395723:p.Val192Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DUB7|D3DUB8|O15361|Q5XKM5|Q7Z5V1	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V192F	ENST00000431561.3	37	c.574	CCDS10497.1	16	.	.	.	.	.	.	.	.	.	.	C	4.116	0.019626	0.08006	.	.	ENSG00000010539	ENST00000396870;ENST00000396868;ENST00000396871;ENST00000414144;ENST00000431561	T;T;T	0.06768	3.28;3.26;3.34	5.07	0.602	0.17535	.	0.201000	0.24730	N	0.036073	T	0.05960	0.0155	L	0.47716	1.5	0.09310	N	1	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.12156	0.003;0.003;0.007	T	0.36939	-0.9727	10	0.20046	T	0.44	0.2491	2.9011	0.05706	0.1983:0.4769:0.0:0.3248	.	191;192;191	D3DUB7;P98182;P98182-2	.;ZN200_HUMAN;.	F	192;191;191;191;192	ENSP00000380077:V191F;ENSP00000380080:V191F;ENSP00000395723:V192F	ENSP00000380077:V191F	V	-	1	0	ZNF200	3214507	0.994000	0.37717	0.142000	0.22268	0.276000	0.26787	0.347000	0.20014	0.295000	0.22570	0.455000	0.32223	GTC	ZNF200	-	NULL	ENSG00000010539		0.393	ZNF200-005	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZNF200	HGNC	protein_coding	OTTHUMT00000437545.1	139	0.00	0	C			3274506	3274506	-1	no_errors	ENST00000414144	ensembl	human	known	69_37n	missense	146	19.23	35	SNP	0.000	A
ZNF208	7757	genome.wustl.edu	37	19	22157244	22157244	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:22157244C>G	ENST00000397126.4	-	4	740	c.592G>C	c.(592-594)Gag>Cag	p.E198Q	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	198					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TAGGAATTCTCTCTAGTATAA	0.363																																						dbGAP											0													59.0	61.0	60.0					19																	22157244		1994	4208	6202	-	-	-	SO:0001583	missense	0			BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.592G>C	19.37:g.22157244C>G	ENSP00000380315:p.Glu198Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E198Q	ENST00000397126.4	37	c.592	CCDS54240.1	19	.	.	.	.	.	.	.	.	.	.	C	11.74	1.730018	0.30684	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.20200	2.09	2.74	2.74	0.32292	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.31482	0.0798	.	.	.	0.30094	N	0.808087	D	0.63046	0.992	P	0.53062	0.717	T	0.18808	-1.0325	8	0.62326	D	0.03	.	10.32	0.43760	0.0:1.0:0.0:0.0	.	198	O43345	ZN208_HUMAN	Q	198	ENSP00000380315:E198Q	ENSP00000380315:E198Q	E	-	1	0	ZNF208	21949084	0.207000	0.23482	0.002000	0.10522	0.209000	0.24338	0.970000	0.29383	1.074000	0.40909	0.298000	0.19748	GAG	ZNF208	-	NULL	ENSG00000160321		0.363	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF208	HGNC	protein_coding	OTTHUMT00000464302.1	97	0.00	0	C	NM_007153		22157244	22157244	-1	no_errors	ENST00000397126	ensembl	human	known	69_37n	missense	62	27.06	23	SNP	0.926	G
ZNF212	7988	genome.wustl.edu	37	7	148950660	148950660	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:148950660C>T	ENST00000335870.2	+	5	770	c.642C>T	c.(640-642)gtC>gtT	p.V214V		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	214	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)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			CAGGTGGGGTCATGATCAAAC	0.468																																						dbGAP											0													57.0	58.0	57.0					7																	148950660		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U38864	CCDS5896.1	7q36.1	2013-01-08			ENSG00000170260	ENSG00000170260		"""Zinc fingers, C2H2-type"", ""-"""	13004	protein-coding gene	gene with protein product		602386				9169157	Standard	NM_012256		Approved	C2H2-150	uc003wfp.3	Q9UDV6	OTTHUMG00000158968	ENST00000335870.2:c.642C>T	7.37:g.148950660C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCF4|Q13396|Q8N664	Missense_Mutation	SNP	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	p.H128Y	ENST00000335870.2	37	c.382	CCDS5896.1	7	.	.	.	.	.	.	.	.	.	.	C	1.745	-0.490814	0.04322	.	.	ENSG00000170260	ENST00000481584	.	.	.	5.63	-1.43	0.08884	.	.	.	.	.	T	0.34745	0.0908	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36065	-0.9763	4	.	.	.	0.0123	10.6791	0.45804	0.0:0.4965:0.0:0.5035	.	.	.	.	Y	128	.	.	H	+	1	0	ZNF212	148581593	0.000000	0.05858	0.000000	0.03702	0.590000	0.36582	-0.988000	0.03739	-0.212000	0.10109	-0.150000	0.13652	CAT	ZNF212	-	NULL	ENSG00000170260		0.468	ZNF212-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF212	HGNC	protein_coding	OTTHUMT00000352710.1	18	0.00	0	C	NM_012256		148950660	148950660	+1	no_start_codon:pseudogene:bad_bp_length_for_coding_region	ENST00000481584	ensembl	human	putative	69_37n	missense	23	28.12	9	SNP	0.000	T
ZNF215	7762	genome.wustl.edu	37	11	6977355	6977355	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr11:6977355C>G	ENST00000278319.5	+	7	1735	c.1147C>G	c.(1147-1149)Caa>Gaa	p.Q383E	ZNF215_ENST00000414517.2_Missense_Mutation_p.Q383E|ZNF215_ENST00000529903.1_Intron	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	383					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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		TGAATGTTATCAATGTGGGAA	0.373																																						dbGAP											0													70.0	68.0	69.0					11																	6977355		2201	4296	6497	-	-	-	SO:0001583	missense	0			AF056618	CCDS7775.1	11p15.4	2013-01-09			ENSG00000149054	ENSG00000149054		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13007	protein-coding gene	gene with protein product		605016					Standard	XM_005253130		Approved	ZKSCAN11, ZSCAN43	uc001mey.3	Q9UL58	OTTHUMG00000165507	ENST00000278319.5:c.1147C>G	11.37:g.6977355C>G	ENSP00000278319:p.Gln383Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96C84	Missense_Mutation	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.Q383E	ENST00000278319.5	37	c.1147	CCDS7775.1	11	.	.	.	.	.	.	.	.	.	.	C	1.584	-0.530820	0.04112	.	.	ENSG00000149054	ENST00000278319;ENST00000414517	T;T	0.13778	2.56;2.56	4.67	3.69	0.42338	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.43110	D	0.000614	T	0.06142	0.0159	N	0.02213	-0.635	0.19575	N	0.999966	P	0.39094	0.659	B	0.41988	0.372	T	0.38436	-0.9661	9	.	.	.	-0.8422	10.868	0.46866	0.0:0.7072:0.2928:0.0	.	383	Q9UL58	ZN215_HUMAN	E	383	ENSP00000278319:Q383E;ENSP00000393202:Q383E	.	Q	+	1	0	ZNF215	6933931	0.002000	0.14202	0.568000	0.28447	0.403000	0.30841	0.039000	0.13884	2.587000	0.87381	0.655000	0.94253	CAA	ZNF215	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000149054		0.373	ZNF215-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF215	HGNC	protein_coding	OTTHUMT00000384550.1	40	0.00	0	C			6977355	6977355	+1	no_errors	ENST00000278319	ensembl	human	known	69_37n	missense	38	22.45	11	SNP	0.012	G
ZNF226	7769	genome.wustl.edu	37	19	44680265	44680265	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:44680265G>C	ENST00000590089.1	+	7	1217	c.850G>C	c.(850-852)Gag>Cag	p.E284Q	ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000454662.2_Missense_Mutation_p.E284Q|ZNF226_ENST00000337433.5_Missense_Mutation_p.E284Q			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	284					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)						Prostate(69;0.0352)|all_neural(266;0.202)				TACATGTGTTGAGCGTGGAAA	0.418																																					Pancreas(115;581 1665 13228 19278 50070)	dbGAP											0													55.0	55.0	55.0					19																	44680265		2063	4223	6286	-	-	-	SO:0001583	missense	0			AF024707	CCDS46102.1, CCDS46103.1	19q13.31	2013-01-08	2012-09-11	2012-09-11	ENSG00000167380	ENSG00000167380		"""Zinc fingers, C2H2-type"", ""-"""	13019	protein-coding gene	gene with protein product							Standard	NM_001146220		Approved		uc002oyp.3	Q9NYT6		ENST00000590089.1:c.850G>C	19.37:g.44680265G>C	ENSP00000465121:p.Glu284Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WWE6|Q96TE6|Q9NS44	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.E284Q	ENST00000590089.1	37	c.850	CCDS46102.1	19	.	.	.	.	.	.	.	.	.	.	G	0.025	-1.378787	0.01204	.	.	ENSG00000167380	ENST00000337433;ENST00000454662	T;T	0.61040	0.14;0.14	4.28	-0.523	0.11924	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.32884	N	0.005532	T	0.37758	0.1015	L	0.31926	0.97	0.09310	N	1	P	0.35050	0.482	B	0.27262	0.078	T	0.21930	-1.0231	10	0.46703	T	0.11	.	9.3398	0.38074	0.3062:0.0:0.6938:0.0	.	284	Q9NYT6	ZN226_HUMAN	Q	284	ENSP00000336719:E284Q;ENSP00000393265:E284Q	ENSP00000336719:E284Q	E	+	1	0	ZNF226	49372105	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.027000	0.13621	-0.036000	0.13669	-0.793000	0.03317	GAG	ZNF226	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000167380		0.418	ZNF226-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF226	HGNC	protein_coding	OTTHUMT00000460712.1	60	0.00	0	G			44680265	44680265	+1	no_errors	ENST00000337433	ensembl	human	known	69_37n	missense	47	18.97	11	SNP	0.000	C
ZNF227	7770	genome.wustl.edu	37	19	44739132	44739132	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:44739132G>A	ENST00000313040.7	+	6	754	c.549G>A	c.(547-549)ctG>ctA	p.L183L	ZNF227_ENST00000589005.1_Silent_p.L132L|ZNF227_ENST00000391961.2_Silent_p.L132L	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	183					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)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				ATACATATCTGAGTGAGTCAC	0.348																																						dbGAP											0													48.0	49.0	49.0					19																	44739132		2202	4297	6499	-	-	-	SO:0001819	synonymous_variant	0			AK092253	CCDS12636.1, CCDS74388.1	19q13.32	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	13020	protein-coding gene	gene with protein product							Standard	XM_005259232		Approved		uc002oyu.3	Q86WZ6		ENST00000313040.7:c.549G>A	19.37:g.44739132G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KRU7|B7Z5P9	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.L183	ENST00000313040.7	37	c.549	CCDS12636.1	19																																																																																			ZNF227	-	NULL	ENSG00000131115		0.348	ZNF227-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF227	HGNC	protein_coding	OTTHUMT00000460720.1	51	0.00	0	G	NM_182490		44739132	44739132	+1	no_errors	ENST00000313040	ensembl	human	known	69_37n	silent	32	34.69	17	SNP	0.000	A
ZNF229	7772	genome.wustl.edu	37	19	44934510	44934510	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:44934510G>A	ENST00000588931.1	-	6	879	c.446C>T	c.(445-447)cCg>cTg	p.P149L	CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000291187.4_Missense_Mutation_p.P143L|ZNF229_ENST00000591289.1_Intron	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	149					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(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				TGGAAAACACGGCGTAGATGC	0.478																																						dbGAP											0													115.0	110.0	111.0					19																	44934510		1884	4107	5991	-	-	-	SO:0001583	missense	0			AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"""Zinc fingers, C2H2-type"", ""-"""	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.446C>T	19.37:g.44934510G>A	ENSP00000466519:p.Pro149Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RWN3|Q59FV2|Q86WL9	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.P149L	ENST00000588931.1	37	c.446	CCDS42574.1	19	.	.	.	.	.	.	.	.	.	.	g	1.781	-0.482048	0.04383	.	.	ENSG00000167383	ENST00000291187	.	.	.	2.98	-5.97	0.02227	.	.	.	.	.	T	0.20495	0.0493	N	0.14661	0.345	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.18053	-1.0349	8	0.27082	T	0.32	.	8.482	0.33049	0.0:0.5481:0.2574:0.1945	.	149	Q9UJW7	ZN229_HUMAN	L	149	.	ENSP00000291187:P149L	P	-	2	0	ZNF229	49626350	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.233000	0.02934	-2.049000	0.00906	-1.916000	0.00518	CCG	ZNF229	-	NULL	ENSG00000167383		0.478	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF229	HGNC	protein_coding	OTTHUMT00000460833.1	98	0.00	0	G	NM_014518		44934510	44934510	-1	no_errors	ENST00000588931	ensembl	human	known	69_37n	missense	63	30.00	27	SNP	0.000	A
ZNF250	58500	genome.wustl.edu	37	8	146107011	146107011	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:146107011C>G	ENST00000292579.7	-	6	1688	c.1572G>C	c.(1570-1572)caG>caC	p.Q524H	ZNF250_ENST00000342660.6_Intron|ZNF250_ENST00000543949.1_Intron|ZNF250_ENST00000417550.2_Missense_Mutation_p.Q519H	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	zinc finger protein 250	524					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(4)|kidney(2)|lung(8)|skin(1)	15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		TCCGCTGGTGCTGGATGAGCA	0.577																																					NSCLC(16;520 556 24096 40084 43446)	dbGAP											0													76.0	63.0	68.0					8																	146107011		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK095705	CCDS34972.1, CCDS55282.1	8q24.3	2013-01-08	2004-11-08			ENSG00000196150		"""Zinc fingers, C2H2-type"", ""-"""	13044	protein-coding gene	gene with protein product			"""zinc finger protein 647"""	ZNF647		12477932	Standard	NM_021061		Approved	MGC9718, ZFP647	uc003zer.4	P15622		ENST00000292579.7:c.1572G>C	8.37:g.146107011C>G	ENSP00000292579:p.Gln524His	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DWP1|Q59HE9|Q8N942|Q96AH9	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.Q524H	ENST00000292579.7	37	c.1572	CCDS34972.1	8	.	.	.	.	.	.	.	.	.	.	C	14.19	2.460496	0.43736	.	.	ENSG00000196150	ENST00000292579;ENST00000417550;ENST00000394912	T;T	0.18338	2.22;2.22	4.06	3.16	0.36331	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46442	D	0.000292	T	0.27594	0.0678	L	0.39566	1.225	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.83275	0.996;0.979	T	0.01319	-1.1386	10	0.38643	T	0.18	-44.3992	8.3161	0.32102	0.0:0.7498:0.1578:0.0923	.	519;524	D3DWP1;P15622	.;ZN250_HUMAN	H	524;519;407	ENSP00000292579:Q524H;ENSP00000393442:Q519H	ENSP00000292579:Q524H	Q	-	3	2	ZNF250	146077815	0.000000	0.05858	1.000000	0.80357	0.974000	0.67602	-3.971000	0.00322	1.278000	0.44430	0.484000	0.47621	CAG	ZNF250	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196150		0.577	ZNF250-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF250	HGNC	protein_coding	OTTHUMT00000382968.1	70	0.00	0	C	NM_021061		146107011	146107011	-1	no_errors	ENST00000292579	ensembl	human	known	69_37n	missense	52	67.50	108	SNP	0.999	G
ZNF263	10127	genome.wustl.edu	37	16	3339442	3339442	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:3339442G>A	ENST00000219069.5	+	6	1812	c.936G>A	c.(934-936)gaG>gaA	p.E312E	ZNF263_ENST00000574253.1_Missense_Mutation_p.R146K|ZNF263_ENST00000538765.1_5'UTR	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	312					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						TATGCTCTGAGAACATCCACC	0.537																																						dbGAP											0													81.0	91.0	88.0					16																	3339442		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			AC004232	CCDS10499.1	16p13.3	2013-01-09			ENSG00000006194	ENSG00000006194		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13056	protein-coding gene	gene with protein product		604191				9256059	Standard	NM_005741		Approved	FPM315, ZKSCAN12, ZSCAN44	uc002cuq.3	O14978	OTTHUMG00000129323	ENST00000219069.5:c.936G>A	16.37:g.3339442G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R634|O43387|Q96H95	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN	p.R146K	ENST00000219069.5	37	c.437	CCDS10499.1	16																																																																																			ZNF263	-	smart_Tscrpt_reg_SCAN	ENSG00000006194		0.537	ZNF263-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF263	HGNC	protein_coding	OTTHUMT00000251463.2	27	0.00	0	G			3339442	3339442	+1	no_errors	ENST00000574253	ensembl	human	putative	69_37n	missense	18	30.77	8	SNP	0.000	A
ZNF275	10838	genome.wustl.edu	37	X	152612650	152612650	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:152612650G>A	ENST00000421401.3	+	4	684	c.507G>A	c.(505-507)gaG>gaA	p.E169E	ZNF275_ENST00000370251.3_Silent_p.E169E|ZNF275_ENST00000440091.1_Silent_p.E199E|ZNF275_ENST00000370249.2_Silent_p.E116E			Q9NSD4	ZN275_HUMAN	zinc finger protein 275	169					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(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATGCCGCGGAGAAGAGGGAGC	0.602																																						dbGAP											0													46.0	50.0	49.0					X																	152612650		2159	4237	6396	-	-	-	SO:0001819	synonymous_variant	0			BC041602		Xq28	2013-01-08			ENSG00000063587	ENSG00000063587		"""Zinc fingers, C2H2-type"", ""-"""	13069	protein-coding gene	gene with protein product							Standard	NM_001080485		Approved		uc004fhg.2	Q9NSD4	OTTHUMG00000067450	ENST00000421401.3:c.507G>A	X.37:g.152612650G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NE92	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.E199	ENST00000421401.3	37	c.597		X																																																																																			ZNF275	-	NULL	ENSG00000063587		0.602	ZNF275-201	KNOWN	basic	protein_coding	ZNF275	HGNC	protein_coding		53	0.00	0	G	NM_001080485		152612650	152612650	+1	no_errors	ENST00000440091	ensembl	human	known	69_37n	silent	40	27.27	15	SNP	0.006	A
ZNF276	92822	genome.wustl.edu	37	16	89793698	89793698	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:89793698G>A	ENST00000443381.2	+	5	1115	c.1018G>A	c.(1018-1020)Gag>Aag	p.E340K	ZNF276_ENST00000446326.2_Silent_p.V136V|ZNF276_ENST00000289816.5_Missense_Mutation_p.E265K|ZNF276_ENST00000568064.1_Silent_p.V258V	NM_001113525.1	NP_001106997.1	Q8N554	ZN276_HUMAN	zinc finger protein 276	340					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		GCAGTTGGGTGAGAAGCAGCT	0.473																																						dbGAP											0													189.0	165.0	173.0					16																	89793698		2198	4300	6498	-	-	-	SO:0001583	missense	0			AK026482	CCDS10986.1, CCDS45554.1	16q24.3	2014-02-17	2006-02-10	2006-02-10	ENSG00000158805	ENSG00000158805		"""Zinc fingers, C2H2-type"""	23330	protein-coding gene	gene with protein product	"""centromere protein Z"", ""zinc finger, AD-type"""	608460	"""zinc finger protein 276 homolog (mouse)"""	ZFP276		10936049, 20813266	Standard	NM_152287		Approved	MGC45417, ZNF477, CENPZ, CENP-Z, ZADT	uc002fos.4	Q8N554	OTTHUMG00000138050	ENST00000443381.2:c.1018G>A	16.37:g.89793698G>A	ENSP00000415836:p.Glu340Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VGA1|Q2TBE8|Q3B7H7	Missense_Mutation	SNP	pfam_Znf_AD,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E340K	ENST00000443381.2	37	c.1018	CCDS45554.1	16	.	.	.	.	.	.	.	.	.	.	G	23.3	4.400594	0.83120	.	.	ENSG00000158805	ENST00000289816;ENST00000443381	T;T	0.06371	3.31;3.37	5.54	5.54	0.83059	.	0.289703	0.37393	N	0.002117	T	0.07908	0.0198	L	0.51422	1.61	0.80722	D	1	B;P	0.47106	0.267;0.89	B;B	0.40782	0.06;0.34	T	0.20638	-1.0269	10	0.33940	T	0.23	-37.1952	11.87	0.52515	0.0793:0.0:0.9207:0.0	.	178;340	B4DIT3;Q8N554	.;ZN276_HUMAN	K	265;340	ENSP00000289816:E265K;ENSP00000415836:E340K	ENSP00000289816:E265K	E	+	1	0	ZNF276	88321199	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.060000	0.71141	2.596000	0.87737	0.655000	0.94253	GAG	ZNF276	-	NULL	ENSG00000158805		0.473	ZNF276-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF276	HGNC	protein_coding	OTTHUMT00000422517.1	153	0.00	0	G	NM_152287		89793698	89793698	+1	no_errors	ENST00000443381	ensembl	human	known	69_37n	missense	167	22.33	48	SNP	1.000	A
ZNF276	92822	genome.wustl.edu	37	16	89804230	89804230	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:89804230C>T	ENST00000443381.2	+	10	1588	c.1491C>T	c.(1489-1491)atC>atT	p.I497I	FANCA_ENST00000389301.3_3'UTR|ZNF276_ENST00000446326.2_Silent_p.I283I|ZNF276_ENST00000289816.5_Silent_p.I422I|ZNF276_ENST00000568064.1_Silent_p.I405I	NM_001113525.1	NP_001106997.1	Q8N554	ZN276_HUMAN	zinc finger protein 276	497					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		GGAACTATATCTGTGACGAAT	0.547																																						dbGAP											0													122.0	111.0	114.0					16																	89804230		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			AK026482	CCDS10986.1, CCDS45554.1	16q24.3	2014-02-17	2006-02-10	2006-02-10	ENSG00000158805	ENSG00000158805		"""Zinc fingers, C2H2-type"""	23330	protein-coding gene	gene with protein product	"""centromere protein Z"", ""zinc finger, AD-type"""	608460	"""zinc finger protein 276 homolog (mouse)"""	ZFP276		10936049, 20813266	Standard	NM_152287		Approved	MGC45417, ZNF477, CENPZ, CENP-Z, ZADT	uc002fos.4	Q8N554	OTTHUMG00000138050	ENST00000443381.2:c.1491C>T	16.37:g.89804230C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VGA1|Q2TBE8|Q3B7H7	Silent	SNP	pfam_Znf_AD,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.I497	ENST00000443381.2	37	c.1491	CCDS45554.1	16																																																																																			ZNF276	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000158805		0.547	ZNF276-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF276	HGNC	protein_coding	OTTHUMT00000422517.1	61	0.00	0	C	NM_152287		89804230	89804230	+1	no_errors	ENST00000443381	ensembl	human	known	69_37n	silent	49	33.78	25	SNP	1.000	T
ZNF277	11179	genome.wustl.edu	37	7	111935989	111935989	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:111935989G>A	ENST00000361822.3	+	3	488	c.359G>A	c.(358-360)aGa>aAa	p.R120K	ZNF277_ENST00000450657.1_Missense_Mutation_p.R120K	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN	zinc finger protein 277	120					cellular response to hydrogen peroxide (GO:0070301)|regulation of cellular senescence (GO:2000772)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						AGTGTAATAAGAATTAATTCC	0.328																																						dbGAP											0													103.0	107.0	106.0					7																	111935989		2203	4297	6500	-	-	-	SO:0001583	missense	0			AF209198	CCDS5755.2	7q31.1	2012-10-05	2007-10-23	2007-10-23	ENSG00000198839	ENSG00000198839			13070	protein-coding gene	gene with protein product		605465	"""zinc finger protein (C2H2 type) 277"", ""zinc finger protein 277 pseudogene"""	ZNF277P		10860669, 16213364, 16395595	Standard	NM_021994		Approved	NRIF4	uc003vge.2	Q9NRM2	OTTHUMG00000150209	ENST00000361822.3:c.359G>A	7.37:g.111935989G>A	ENSP00000354501:p.Arg120Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q75MZ2|Q75MZ3|Q8WY14	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R120K	ENST00000361822.3	37	c.359	CCDS5755.2	7	.	.	.	.	.	.	.	.	.	.	G	7.096	0.573077	0.13623	.	.	ENSG00000198839	ENST00000361822;ENST00000450657	T;T	0.28666	1.61;1.6	6.17	6.17	0.99709	.	0.041240	0.85682	D	0.000000	T	0.21841	0.0526	N	0.14661	0.345	0.42774	D	0.993845	B;B	0.14805	0.011;0.01	B;B	0.17098	0.017;0.013	T	0.10776	-1.0615	10	0.14252	T	0.57	-18.6677	19.8676	0.96824	0.0:0.0:1.0:0.0	.	120;120	Q9NRM2;G5E9M4	ZN277_HUMAN;.	K	120	ENSP00000354501:R120K;ENSP00000402292:R120K	ENSP00000354501:R120K	R	+	2	0	ZNF277	111723225	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.762000	0.68809	2.941000	0.99782	0.655000	0.94253	AGA	ZNF277	-	NULL	ENSG00000198839		0.328	ZNF277-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF277	HGNC	protein_coding	OTTHUMT00000316843.2	120	0.00	0	G	NM_021994		111935989	111935989	+1	no_errors	ENST00000361822	ensembl	human	known	69_37n	missense	88	21.43	24	SNP	1.000	A
ZNF28	7576	genome.wustl.edu	37	19	53303166	53303166	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:53303166G>A	ENST00000457749.2	-	4	2051	c.1932C>T	c.(1930-1932)ttC>ttT	p.F644F	ZNF28_ENST00000360272.4_Silent_p.F591F|ZNF28_ENST00000438150.2_Silent_p.F591F|ZNF28_ENST00000414252.2_Silent_p.F591F	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	644					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)	p.F591F(2)|p.F644F(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		ACATCTGACTGAAGGTCTTGC	0.433																																						dbGAP											3	Substitution - coding silent(3)	lung(3)											194.0	183.0	187.0					19																	53303166		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"""Zinc fingers, C2H2-type"", ""-"""	13073	protein-coding gene	gene with protein product			"""zinc finger protein 28 (KOX 24)"""				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.1932C>T	19.37:g.53303166G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	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.F644	ENST00000457749.2	37	c.1932	CCDS33093.2	19																																																																																			ZNF28	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198538		0.433	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF28	HGNC	protein_coding	OTTHUMT00000336038.2	143	0.00	0	G	NM_006969		53303166	53303166	-1	no_errors	ENST00000457749	ensembl	human	known	69_37n	silent	90	25.62	31	SNP	0.526	A
ZNF280A	129025	genome.wustl.edu	37	22	22869163	22869163	+	Silent	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:22869163G>T	ENST00000302097.3	-	2	1044	c.792C>A	c.(790-792)acC>acA	p.T264T	snoU13_ENST00000459485.1_RNA	NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	264					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(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TGGGATCAAAGGTCTTGTTTT	0.433																																						dbGAP											0													131.0	118.0	123.0					22																	22869163		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D87009	CCDS13800.1	22q11.21	2007-09-20	2007-09-20	2007-09-20	ENSG00000169548	ENSG00000169548			18597	protein-coding gene	gene with protein product			"""zinc finger protein 280"", ""suppressor of hairy wing homolog 1 (Drosophila)"""	ZNF280, SUHW1		9074928	Standard	NM_080740		Approved	3'OY11.1, ZNF636	uc002zwe.3	P59817	OTTHUMG00000030545	ENST00000302097.3:c.792C>A	22.37:g.22869163G>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T264	ENST00000302097.3	37	c.792	CCDS13800.1	22																																																																																			ZNF280A	-	NULL	ENSG00000169548		0.433	ZNF280A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF280A	HGNC	protein_coding	OTTHUMT00000075433.3	129	0.00	0	G	NM_080740		22869163	22869163	-1	no_errors	ENST00000302097	ensembl	human	known	69_37n	silent	131	26.82	48	SNP	0.000	T
ZNF282	8427	genome.wustl.edu	37	7	148909462	148909462	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:148909462C>T	ENST00000262085.3	+	6	1070	c.965C>T	c.(964-966)tCt>tTt	p.S322F	ZNF282_ENST00000479907.1_Missense_Mutation_p.S322F	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	322					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		TCCCCAATTTCTGCCCAGGAC	0.483																																						dbGAP											0													65.0	57.0	60.0					7																	148909462		2203	4300	6503	-	-	-	SO:0001583	missense	0			D30612	CCDS5895.1	7q36.1	2013-01-08			ENSG00000170265	ENSG00000170265		"""Zinc fingers, C2H2-type"", ""-"""	13076	protein-coding gene	gene with protein product		603397				9396811	Standard	NM_003575		Approved	HUB1	uc003wfm.3	Q9UDV7	OTTHUMG00000158974	ENST00000262085.3:c.965C>T	7.37:g.148909462C>T	ENSP00000262085:p.Ser322Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DRI5|O43691|Q6DKK0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S322F	ENST00000262085.3	37	c.965	CCDS5895.1	7	.	.	.	.	.	.	.	.	.	.	C	16.51	3.143107	0.57044	.	.	ENSG00000170265	ENST00000262085;ENST00000479907	T;T	0.08807	3.05;4.86	5.38	4.5	0.54988	.	0.000000	0.51477	D	0.000084	T	0.17323	0.0416	L	0.48642	1.525	0.38118	D	0.937762	D;D;D	0.65815	0.995;0.971;0.971	P;P;P	0.59221	0.854;0.641;0.641	T	0.02632	-1.1131	10	0.40728	T	0.16	-4.4125	12.2569	0.54629	0.0:0.8293:0.1707:0.0	.	322;294;322	B4DRI5;Q7Z2V4;Q9UDV7	.;.;ZN282_HUMAN	F	322	ENSP00000262085:S322F;ENSP00000418840:S322F	ENSP00000262085:S322F	S	+	2	0	ZNF282	148540395	0.977000	0.34250	0.898000	0.35279	0.780000	0.44128	2.802000	0.47916	1.274000	0.44362	-0.150000	0.13652	TCT	ZNF282	-	NULL	ENSG00000170265		0.483	ZNF282-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF282	HGNC	protein_coding	OTTHUMT00000352746.1	88	0.00	0	C	NM_003575		148909462	148909462	+1	no_errors	ENST00000262085	ensembl	human	known	69_37n	missense	56	22.22	16	SNP	0.993	T
ZNF283	284349	genome.wustl.edu	37	19	44351412	44351412	+	Nonsense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:44351412C>G	ENST00000324461.7	+	7	956	c.659C>G	c.(658-660)tCa>tGa	p.S220*	ZNF283_ENST00000588797.1_Nonsense_Mutation_p.S81*	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	220					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(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				AGTCATGGCTCAAAACTTGTT	0.348																																						dbGAP											0													55.0	61.0	59.0					19																	44351412		2058	4241	6299	-	-	-	SO:0001587	stop_gained	0			AK098175	CCDS46097.1, CCDS74387.1	19q13.31	2013-01-08			ENSG00000167637	ENSG00000167637		"""Zinc fingers, C2H2-type"", ""-"""	13077	protein-coding gene	gene with protein product						12743021	Standard	NM_181845		Approved		uc002oxr.4	Q8N7M2		ENST00000324461.7:c.659C>G	19.37:g.44351412C>G	ENSP00000327314:p.Ser220*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DGZ5|B7WP04|Q6RFR9|Q86WM6	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.S220*	ENST00000324461.7	37	c.659	CCDS46097.1	19	.	.	.	.	.	.	.	.	.	.	C	23.9	4.469748	0.84533	.	.	ENSG00000167637	ENST00000324461	.	.	.	2.91	2.91	0.33838	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	7.3786	0.26843	0.2599:0.7401:0.0:0.0	.	.	.	.	X	220	.	ENSP00000327314:S220X	S	+	2	0	ZNF283	49043252	0.000000	0.05858	0.638000	0.29380	0.772000	0.43724	0.223000	0.17719	1.946000	0.56461	0.563000	0.77884	TCA	ZNF283	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000167637		0.348	ZNF283-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF283	HGNC	protein_coding	OTTHUMT00000459909.1	43	0.00	0	C	NM_181845		44351412	44351412	+1	no_errors	ENST00000324461	ensembl	human	known	69_37n	nonsense	16	23.81	5	SNP	0.003	G
ZNF285	26974	genome.wustl.edu	37	19	44891869	44891869	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:44891869G>C	ENST00000330997.4	-	4	602	c.538C>G	c.(538-540)Cag>Gag	p.Q180E	ZNF285_ENST00000544719.2_Missense_Mutation_p.Q180E|ZNF285_ENST00000591679.1_Missense_Mutation_p.Q187E|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	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)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TCATCATGCTGAGCACGTCTG	0.468																																						dbGAP											0													117.0	116.0	116.0					19																	44891869		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"""Zinc fingers, C2H2-type"", ""-"""	13079	protein-coding gene	gene with protein product			"""zinc finger protein 285A"""	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.538C>G	19.37:g.44891869G>C	ENSP00000333595:p.Gln180Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RJ3|Q6B0A8|Q6ISR5	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.Q180E	ENST00000330997.4	37	c.538	CCDS12638.1	19	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.183968	0.00305	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	T	0.05717	3.4	2.71	-1.06	0.10002	.	.	.	.	.	T	0.01976	0.0062	N	0.04724	-0.175	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.01281	0.0;0.0	T	0.44847	-0.9301	9	0.02654	T	1	.	0.9769	0.01427	0.2301:0.2956:0.313:0.1612	.	204;180	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	E	203;180	ENSP00000333595:Q180E	ENSP00000333595:Q180E	Q	-	1	0	ZNF285	49583709	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-6.966000	0.00048	-0.244000	0.09639	-0.479000	0.04858	CAG	ZNF285	-	NULL	ENSG00000267508		0.468	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF285	HGNC	protein_coding	OTTHUMT00000443600.1	120	0.00	0	G	NM_152354		44891869	44891869	-1	no_errors	ENST00000330997	ensembl	human	known	69_37n	missense	84	20.00	21	SNP	0.000	C
ZNF286B	729288	genome.wustl.edu	37	17	18565275	18565275	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:18565275C>G	ENST00000545289.1	-	5	1794	c.1544G>C	c.(1543-1545)aGa>aCa	p.R515T	ZNF286B_ENST00000285274.5_3'UTR	NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN	zinc finger protein 286B	515					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(1)|lung(1)	2						AGTGTGAACTCTTTGATGTCT	0.373																																						dbGAP											0													21.0	23.0	23.0					17																	18565275		692	1589	2281	-	-	-	SO:0001583	missense	0				CCDS58523.1	17p11.2	2013-01-08			ENSG00000249459	ENSG00000249459		"""Zinc fingers, C2H2-type"""	33241	protein-coding gene	gene with protein product	"""zinc finger protein 590"""		"""zinc finger protein 286-like"", ""zinc finger 286C pseudogene"""	ZNF286L, ZNF286C			Standard	NM_001145045		Approved	ZNF590	uc010vyd.1	P0CG31	OTTHUMG00000178136	ENST00000545289.1:c.1544G>C	17.37:g.18565275C>G	ENSP00000461413:p.Arg515Thr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R515T	ENST00000545289.1	37	c.1544	CCDS58523.1	17																																																																																			ZNF286B	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000249459		0.373	ZNF286B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF286B	HGNC	protein_coding		142	0.00	0	C	XM_001723047		18565275	18565275	-1	no_errors	ENST00000545289	ensembl	human	known	69_37n	missense	107	11.57	14	SNP	1.000	G
ZNF286B	729288	genome.wustl.edu	37	17	18565511	18565511	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:18565511C>G	ENST00000545289.1	-	5	1558	c.1308G>C	c.(1306-1308)gaG>gaC	p.E436D	ZNF286B_ENST00000285274.5_3'UTR	NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN	zinc finger protein 286B	436					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(1)|lung(1)	2						CATAGGGTTTCTCTCCAGTGT	0.383																																						dbGAP											0													90.0	95.0	94.0					17																	18565511		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS58523.1	17p11.2	2013-01-08			ENSG00000249459	ENSG00000249459		"""Zinc fingers, C2H2-type"""	33241	protein-coding gene	gene with protein product	"""zinc finger protein 590"""		"""zinc finger protein 286-like"", ""zinc finger 286C pseudogene"""	ZNF286L, ZNF286C			Standard	NM_001145045		Approved	ZNF590	uc010vyd.1	P0CG31	OTTHUMG00000178136	ENST00000545289.1:c.1308G>C	17.37:g.18565511C>G	ENSP00000461413:p.Glu436Asp	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E436D	ENST00000545289.1	37	c.1308	CCDS58523.1	17																																																																																			ZNF286B	-	pfscan_Znf_C2H2	ENSG00000249459		0.383	ZNF286B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF286B	HGNC	protein_coding		119	0.00	0	C	XM_001723047		18565511	18565511	-1	no_errors	ENST00000545289	ensembl	human	known	69_37n	missense	77	23.76	24	SNP	1.000	G
ZNF292	23036	genome.wustl.edu	37	6	87967251	87967251	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:87967251G>C	ENST00000369577.3	+	8	3947	c.3904G>C	c.(3904-3906)Gaa>Caa	p.E1302Q	ZNF292_ENST00000339907.4_Missense_Mutation_p.E1297Q	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1302						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)		CTCACAGATTGAAGGAAACAC	0.378																																						dbGAP											0													36.0	34.0	34.0					6																	87967251		1847	4090	5937	-	-	-	SO:0001583	missense	0			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.3904G>C	6.37:g.87967251G>C	ENSP00000358590:p.Glu1302Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E1302Q	ENST00000369577.3	37	c.3904	CCDS47457.1	6	.	.	.	.	.	.	.	.	.	.	G	13.74	2.326860	0.41197	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.07114	3.22;3.23	5.5	5.5	0.81552	.	0.395297	0.27696	N	0.018226	T	0.05044	0.0135	L	0.44542	1.39	0.35818	D	0.82438	P	0.43633	0.813	B	0.37943	0.261	T	0.40117	-0.9580	10	0.35671	T	0.21	.	19.4074	0.94653	0.0:0.0:1.0:0.0	.	1302	O60281	ZN292_HUMAN	Q	1302;1297	ENSP00000358590:E1302Q;ENSP00000342847:E1297Q	ENSP00000342847:E1297Q	E	+	1	0	ZNF292	88023970	1.000000	0.71417	0.994000	0.49952	0.839000	0.47603	3.721000	0.54941	2.599000	0.87857	0.650000	0.86243	GAA	ZNF292	-	NULL	ENSG00000188994		0.378	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF292	HGNC	protein_coding	OTTHUMT00000376192.2	60	0.00	0	G	NM_015021		87967251	87967251	+1	no_errors	ENST00000369577	ensembl	human	known	69_37n	missense	45	29.69	19	SNP	1.000	C
ZNF292	23036	genome.wustl.edu	37	6	87968832	87968832	+	Missense_Mutation	SNP	G	G	A	rs199955230		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:87968832G>A	ENST00000369577.3	+	8	5528	c.5485G>A	c.(5485-5487)Gaa>Aaa	p.E1829K	ZNF292_ENST00000339907.4_Missense_Mutation_p.E1824K	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1829						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)		TCCTCAGTCTGAAGTATCACA	0.358																																						dbGAP											0													26.0	26.0	26.0					6																	87968832		1846	4079	5925	-	-	-	SO:0001583	missense	0			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.5485G>A	6.37:g.87968832G>A	ENSP00000358590:p.Glu1829Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E1829K	ENST00000369577.3	37	c.5485	CCDS47457.1	6	.	.	.	.	.	.	.	.	.	.	G	4.130	0.022491	0.08006	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.06687	3.27;3.28	5.86	4.07	0.47477	.	0.487743	0.23202	N	0.050779	T	0.01976	0.0062	N	0.19112	0.55	0.29261	N	0.871351	B	0.10296	0.003	B	0.08055	0.003	T	0.42982	-0.9419	10	0.32370	T	0.25	.	12.0191	0.53333	0.0653:0.1224:0.8123:0.0	.	1829	O60281	ZN292_HUMAN	K	1829;1824	ENSP00000358590:E1829K;ENSP00000342847:E1824K	ENSP00000342847:E1824K	E	+	1	0	ZNF292	88025551	1.000000	0.71417	0.092000	0.20876	0.012000	0.07955	6.305000	0.72805	0.921000	0.36994	0.650000	0.86243	GAA	ZNF292	-	NULL	ENSG00000188994		0.358	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF292	HGNC	protein_coding	OTTHUMT00000376192.2	28	0.00	0	G	NM_015021		87968832	87968832	+1	no_errors	ENST00000369577	ensembl	human	known	69_37n	missense	12	36.84	7	SNP	0.992	A
ZNF292	23036	genome.wustl.edu	37	6	87970159	87970159	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:87970159C>A	ENST00000369577.3	+	8	6855	c.6812C>A	c.(6811-6813)tCg>tAg	p.S2271*	ZNF292_ENST00000339907.4_Nonsense_Mutation_p.S2266*	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2271						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)		GCAACCCGGTCGAATCTCCTC	0.423																																						dbGAP											0													79.0	77.0	78.0					6																	87970159		1861	4105	5966	-	-	-	SO:0001587	stop_gained	0			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.6812C>A	6.37:g.87970159C>A	ENSP00000358590:p.Ser2271*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Nonsense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S2271*	ENST00000369577.3	37	c.6812	CCDS47457.1	6	.	.	.	.	.	.	.	.	.	.	C	45	11.664227	0.99589	.	.	ENSG00000188994	ENST00000369577;ENST00000339907;ENST00000496806	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.6484	0.95791	0.0:1.0:0.0:0.0	.	.	.	.	X	2271;2266;189	.	ENSP00000342847:S2266X	S	+	2	0	ZNF292	88026878	1.000000	0.71417	0.998000	0.56505	0.941000	0.58515	5.666000	0.68059	2.659000	0.90383	0.585000	0.79938	TCG	ZNF292	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000188994		0.423	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF292	HGNC	protein_coding	OTTHUMT00000376192.2	67	0.00	0	C	NM_015021		87970159	87970159	+1	no_errors	ENST00000369577	ensembl	human	known	69_37n	nonsense	31	20.51	8	SNP	1.000	A
ZNF30	90075	genome.wustl.edu	37	19	35435446	35435446	+	Missense_Mutation	SNP	T	T	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:35435446T>C	ENST00000601142.1	+	5	1813	c.1576T>C	c.(1576-1578)Tac>Cac	p.Y526H	ZNF30_ENST00000601957.1_3'UTR|ZNF30_ENST00000439785.1_Missense_Mutation_p.Y527H|ZNF30_ENST00000426813.2_Missense_Mutation_p.Y445H|ZNF30_ENST00000303586.7_Missense_Mutation_p.Y527H			P17039	ZNF30_HUMAN	zinc finger protein 30	526					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)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		TTCTGGCTCATACCTTGTTCA	0.423																																						dbGAP											0													69.0	77.0	74.0					19																	35435446		2190	4297	6487	-	-	-	SO:0001583	missense	0			X52359	CCDS46044.1, CCDS46045.1	19q13.13	2013-01-08	2006-05-10			ENSG00000168661		"""Zinc fingers, C2H2-type"", ""-"""	13090	protein-coding gene	gene with protein product			"""zinc finger protein 30 (KOX 28)"""				Standard	NM_001099437		Approved	KOX28, DKFZp686N19164, FLJ20562	uc010edq.1	P17039		ENST00000601142.1:c.1576T>C	19.37:g.35435446T>C	ENSP00000469954:p.Tyr526His	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PLP1|A8K320|B4DIC0|Q6N068	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.Y527H	ENST00000601142.1	37	c.1579	CCDS46045.1	19	.	.	.	.	.	.	.	.	.	.	t	8.076	0.771389	0.16051	.	.	ENSG00000168661	ENST00000439785;ENST00000303586;ENST00000426813;ENST00000342559	T;T	0.03889	3.77;3.77	2.57	-4.37	0.03633	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01800	0.0057	N	0.03268	-0.37	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.12156	0.004;0.007	T	0.48258	-0.9051	9	0.18276	T	0.48	.	5.2943	0.15745	0.255:0.5249:0.0:0.2201	.	527;526	P17039-2;P17039	.;ZNF30_HUMAN	H	527;526;445;235	ENSP00000403441:Y527H;ENSP00000416457:Y445H	ENSP00000303889:Y526H	Y	+	1	0	ZNF30	40127286	0.000000	0.05858	0.000000	0.03702	0.816000	0.46133	-7.401000	0.00037	-0.940000	0.03705	0.416000	0.27883	TAC	ZNF30	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000168661		0.423	ZNF30-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	ZNF30	HGNC	protein_coding	OTTHUMT00000464432.1	83	0.00	0	T	NM_194325		35435446	35435446	+1	no_errors	ENST00000439785	ensembl	human	known	69_37n	missense	33	50.00	34	SNP	0.000	C
ZNF300	91975	genome.wustl.edu	37	5	150276209	150276209	+	Missense_Mutation	SNP	T	T	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:150276209T>A	ENST00000274599.5	-	6	1012	c.592A>T	c.(592-594)Att>Ttt	p.I198F	ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000418587.2_Missense_Mutation_p.I162F|ZNF300_ENST00000394226.2_Missense_Mutation_p.I198F|ZNF300_ENST00000446148.2_Missense_Mutation_p.I214F	NM_052860.2	NP_443092.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	198					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(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGTAGGTCAATATTTGGTTTT	0.333																																						dbGAP											0													66.0	70.0	68.0					5																	150276209		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF395541	CCDS4311.2, CCDS54939.1, CCDS54940.1	5q33.1	2013-01-08			ENSG00000145908	ENSG00000145908		"""Zinc fingers, C2H2-type"", ""-"""	13091	protein-coding gene	gene with protein product		612429				14746915	Standard	NM_052860		Approved		uc021yfx.1	Q96RE9	OTTHUMG00000130076	ENST00000274599.5:c.592A>T	5.37:g.150276209T>A	ENSP00000274599:p.Ile198Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MY91|B3KU35|B4DU78|F5GWS1|Q06DQ3|Q17RP3|Q5H9N5	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.I214F	ENST00000274599.5	37	c.640	CCDS4311.2	5	.	.	.	.	.	.	.	.	.	.	T	5.242	0.230207	0.09969	.	.	ENSG00000145908	ENST00000446148;ENST00000274599;ENST00000418587;ENST00000394226	T;T;T;T	0.08193	3.18;3.18;3.12;3.18	2.86	0.376	0.16193	.	.	.	.	.	T	0.04318	0.0119	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.40701	-0.9549	9	0.49607	T	0.09	.	2.6014	0.04867	0.417:0.1258:0.0:0.4573	.	198	Q96RE9	ZN300_HUMAN	F	214;198;162;198	ENSP00000397178:I214F;ENSP00000274599:I198F;ENSP00000392593:I162F;ENSP00000377773:I198F	ENSP00000274599:I198F	I	-	1	0	ZNF300	150256402	0.018000	0.18449	0.090000	0.20809	0.405000	0.30901	0.000000	0.12993	0.075000	0.16796	0.455000	0.32223	ATT	ZNF300	-	NULL	ENSG00000145908		0.333	ZNF300-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF300	HGNC	protein_coding		82	0.00	0	T	NM_052860		150276209	150276209	-1	no_errors	ENST00000446148	ensembl	human	known	69_37n	missense	62	24.39	20	SNP	0.000	A
ZNF317	57693	genome.wustl.edu	37	19	9270894	9270894	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:9270894G>A	ENST00000247956.6	+	7	878	c.573G>A	c.(571-573)aaG>aaA	p.K191K	ZNF317_ENST00000360385.3_Silent_p.K159K	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	191					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(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						ACGCTGGCAAGAGGCCCTATC	0.557																																						dbGAP											0													71.0	57.0	61.0					19																	9270894		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF275255	CCDS12210.1, CCDS54213.1	19p13	2013-01-08				ENSG00000130803		"""Zinc fingers, C2H2-type"", ""-"""	13507	protein-coding gene	gene with protein product		613864				10997877, 11688974	Standard	NM_020933		Approved		uc002mku.3	Q96PQ6		ENST00000247956.6:c.573G>A	19.37:g.9270894G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6DCA9|Q96PM0|Q96PM1|Q96PT2|Q9HCI4	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.K191	ENST00000247956.6	37	c.573	CCDS12210.1	19																																																																																			ZNF317	-	NULL	ENSG00000130803		0.557	ZNF317-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF317	HGNC	protein_coding	OTTHUMT00000448995.1	44	0.00	0	G	NM_020933		9270894	9270894	+1	no_errors	ENST00000247956	ensembl	human	known	69_37n	silent	27	27.03	10	SNP	1.000	A
ZNF320	162967	genome.wustl.edu	37	19	53384069	53384069	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:53384069C>A	ENST00000595635.1	-	8	1811	c.1310G>T	c.(1309-1311)gGa>gTa	p.G437V	ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000391781.2_Missense_Mutation_p.G437V	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	437					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)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		AGGTTTCTCTCCTGTATGAAT	0.378																																						dbGAP											0													87.0	77.0	80.0					19																	53384069		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF086262	CCDS33095.1	19q13.41	2014-09-04			ENSG00000182986	ENSG00000182986		"""Zinc fingers, C2H2-type"", ""-"""	13842	protein-coding gene	gene with protein product		606427				11536051	Standard	XM_006723059		Approved	ZFPL, DKFZp686G16228	uc002qag.3	A2RRD8	OTTHUMG00000182797	ENST00000595635.1:c.1310G>T	19.37:g.53384069C>A	ENSP00000473091:p.Gly437Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NDR6	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.G437V	ENST00000595635.1	37	c.1310	CCDS33095.1	19	.	.	.	.	.	.	.	.	.	.	-	17.74	3.465033	0.63513	.	.	ENSG00000182986	ENST00000391781	T	0.23552	1.9	1.74	1.74	0.24563	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42471	0.1204	M	0.73598	2.24	0.58432	D	0.999997	D	0.69078	0.997	P	0.58266	0.836	T	0.47262	-0.9131	9	0.87932	D	0	.	10.4845	0.44713	0.0:1.0:0.0:0.0	.	437	A2RRD8	ZN320_HUMAN	V	437	ENSP00000375660:G437V	ENSP00000375660:G437V	G	-	2	0	ZNF320	58075881	0.000000	0.05858	0.509000	0.27700	0.324000	0.28378	1.082000	0.30803	0.955000	0.37878	0.184000	0.17185	GGA	ZNF320	-	pfscan_Znf_C2H2	ENSG00000182986		0.378	ZNF320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF320	HGNC	protein_coding	OTTHUMT00000463771.1	87	0.00	0	C	NM_207333		53384069	53384069	-1	no_errors	ENST00000391781	ensembl	human	known	69_37n	missense	68	27.66	26	SNP	1.000	A
ZNF341	84905	genome.wustl.edu	37	20	32358036	32358036	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:32358036G>A	ENST00000375200.1	+	10	1925	c.1560G>A	c.(1558-1560)gtG>gtA	p.V520V	ZNF341_ENST00000342427.2_Silent_p.V513V	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	520					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)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						ACCTGGGCGTGCACCAGTACT	0.612																																						dbGAP											0													101.0	73.0	83.0					20																	32358036		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK027550	CCDS13227.1, CCDS74719.1	20q11.22	2013-01-08			ENSG00000131061	ENSG00000131061		"""Zinc fingers, C2H2-type"""	15992	protein-coding gene	gene with protein product							Standard	NM_001282933		Approved	dJ553F4.3	uc002wzx.3	Q9BYN7	OTTHUMG00000032275	ENST00000375200.1:c.1560G>A	20.37:g.32358036G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V520	ENST00000375200.1	37	c.1560		20																																																																																			ZNF341	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000131061		0.612	ZNF341-201	KNOWN	basic	protein_coding	ZNF341	HGNC	protein_coding		46	0.00	0	G			32358036	32358036	+1	no_errors	ENST00000375200	ensembl	human	known	69_37n	silent	56	18.57	13	SNP	0.996	A
ZNF347	84671	genome.wustl.edu	37	19	53643729	53643729	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:53643729C>G	ENST00000334197.7	-	5	2420	c.2352G>C	c.(2350-2352)caG>caC	p.Q784H	ZNF347_ENST00000601469.2_Missense_Mutation_p.Q785H|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000452676.2_Missense_Mutation_p.Q785H	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	784					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(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TATGAATTCTCTGATGCCTTG	0.428																																					Melanoma(64;205 1597 17324 45721)	dbGAP											0													170.0	169.0	169.0					19																	53643729		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.2352G>C	19.37:g.53643729C>G	ENSP00000334146:p.Gln784His	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KU77|B9EG59|G5E9N4|Q8TCN1	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.Q785H	ENST00000334197.7	37	c.2355	CCDS33097.1	19	.	.	.	.	.	.	.	.	.	.	C	7.943	0.743163	0.15642	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	T;T	0.36520	1.25;1.25	2.58	-0.515	0.11954	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24005	0.0581	L	0.31371	0.925	0.09310	N	1	P;B	0.42010	0.768;0.058	B;B	0.43103	0.408;0.016	T	0.11916	-1.0568	9	0.38643	T	0.18	.	2.7663	0.05321	0.2089:0.3185:0.0:0.4726	.	785;784	G5E9N4;Q96SE7	.;ZN347_HUMAN	H	784;785	ENSP00000334146:Q784H;ENSP00000405218:Q785H	ENSP00000334146:Q784H	Q	-	3	2	ZNF347	58335541	0.000000	0.05858	0.001000	0.08648	0.021000	0.10359	-1.548000	0.02184	-0.187000	0.10516	0.650000	0.86243	CAG	ZNF347	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197937		0.428	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF347	HGNC	protein_coding	OTTHUMT00000464170.1	143	0.00	0	C	NM_032584		53643729	53643729	-1	no_errors	ENST00000452676	ensembl	human	known	69_37n	missense	113	20.98	30	SNP	0.002	G
ZNF35	7584	genome.wustl.edu	37	3	44700638	44700638	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:44700638G>C	ENST00000396056.2	+	4	1018	c.783G>C	c.(781-783)caG>caC	p.Q261H	ZNF35_ENST00000542250.1_Missense_Mutation_p.Q101H|RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000296092.3_3'UTR	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN	zinc finger protein 35	261					cellular response to retinoic acid (GO:0071300)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cell (GO:0005623)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		CCTTCATTCAGAGTGCAAACC	0.458																																						dbGAP											0													71.0	66.0	67.0					3																	44700638		2203	4300	6503	-	-	-	SO:0001583	missense	0			X07289	CCDS2718.2	3p21.32	2013-01-08	2006-05-11		ENSG00000169981	ENSG00000169981		"""Zinc fingers, C2H2-type"""	13099	protein-coding gene	gene with protein product		194533	"""zinc finger protein 35 (clone HF.10)"""			2108922, 1572646	Standard	NM_003420		Approved	HF.10, HF10, Zfp105	uc003cnq.3	P13682	OTTHUMG00000133091	ENST00000396056.2:c.783G>C	3.37:g.44700638G>C	ENSP00000379368:p.Gln261His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBU6|Q53Y54|Q96D01	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q261H	ENST00000396056.2	37	c.783	CCDS2718.2	3	.	.	.	.	.	.	.	.	.	.	G	12.35	1.913018	0.33815	.	.	ENSG00000169981	ENST00000396056;ENST00000542250	T;T	0.07327	3.43;3.2	5.43	1.42	0.22433	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44097	D	0.000493	T	0.13927	0.0337	L	0.36672	1.1	0.09310	N	1	D	0.89917	1.0	D	0.74023	0.982	T	0.11299	-1.0593	10	0.30078	T	0.28	-15.439	7.0174	0.24895	0.2818:0.1805:0.5377:0.0	.	261	P13682	ZNF35_HUMAN	H	261;101	ENSP00000379368:Q261H;ENSP00000443714:Q101H	ENSP00000379368:Q261H	Q	+	3	2	ZNF35	44675642	.	.	0.998000	0.56505	0.979000	0.70002	.	.	0.128000	0.18479	-0.797000	0.03246	CAG	ZNF35	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000169981		0.458	ZNF35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF35	HGNC	protein_coding	OTTHUMT00000256749.4	59	0.00	0	G	NM_003420		44700638	44700638	+1	no_errors	ENST00000396056	ensembl	human	known	69_37n	missense	65	28.57	26	SNP	0.001	C
ZNF350	59348	genome.wustl.edu	37	19	52469055	52469055	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:52469055C>G	ENST00000243644.4	-	5	878	c.651G>C	c.(649-651)aaG>aaC	p.K217N	HCCAT3_ENST00000595010.1_RNA|ZNF350_ENST00000600703.1_5'Flank|HCCAT3_ENST00000600253.1_RNA	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	217					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		GCCAAGACTTCTTGATGAAGG	0.433																																						dbGAP											0													196.0	178.0	184.0					19																	52469055		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF295096	CCDS12845.1	19q13.41	2013-05-23			ENSG00000256683	ENSG00000256683		"""Zinc fingers, C2H2-type"", ""-"""	16656	protein-coding gene	gene with protein product		605422				11090615, 11161714	Standard	NM_021632		Approved	ZBRK1, ZFQR	uc002pyd.3	Q9GZX5	OTTHUMG00000182538	ENST00000243644.4:c.651G>C	19.37:g.52469055C>G	ENSP00000243644:p.Lys217Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96G73|Q9HAQ4	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.K217N	ENST00000243644.4	37	c.651	CCDS12845.1	19	.	.	.	.	.	.	.	.	.	.	C	10.10	1.256962	0.22965	.	.	ENSG00000256683	ENST00000243644	T	0.15139	2.45	3.41	-3.6	0.04570	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.600804	0.13884	N	0.356066	T	0.10680	0.0261	N	0.17674	0.51	0.09310	N	1	D	0.60575	0.988	P	0.50934	0.654	T	0.10200	-1.0640	10	0.52906	T	0.07	.	0.6233	0.00782	0.2647:0.1996:0.131:0.4046	.	217	Q9GZX5	ZN350_HUMAN	N	217	ENSP00000243644:K217N	ENSP00000243644:K217N	K	-	3	2	ZNF350	57160867	0.000000	0.05858	0.007000	0.13788	0.260000	0.26232	-0.756000	0.04777	-1.012000	0.03387	-0.218000	0.12543	AAG	ZNF350	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000256683		0.433	ZNF350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF350	HGNC	protein_coding	OTTHUMT00000462278.1	119	0.00	0	C	NM_021632		52469055	52469055	-1	no_errors	ENST00000243644	ensembl	human	known	69_37n	missense	113	18.71	26	SNP	0.000	G
ZNF350	59348	genome.wustl.edu	37	19	52472315	52472315	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:52472315G>A	ENST00000243644.4	-	3	312	c.85C>T	c.(85-87)Cag>Tag	p.Q29*	HCCAT3_ENST00000595010.1_RNA|ZNF350_ENST00000600703.1_5'UTR|HCCAT3_ENST00000600253.1_RNA	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	29	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q29E(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		AGGTCCTTCTGAGCAGCGCCC	0.527																																						dbGAP											1	Substitution - Missense(1)	breast(1)											183.0	163.0	170.0					19																	52472315		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF295096	CCDS12845.1	19q13.41	2013-05-23			ENSG00000256683	ENSG00000256683		"""Zinc fingers, C2H2-type"", ""-"""	16656	protein-coding gene	gene with protein product		605422				11090615, 11161714	Standard	NM_021632		Approved	ZBRK1, ZFQR	uc002pyd.3	Q9GZX5	OTTHUMG00000182538	ENST00000243644.4:c.85C>T	19.37:g.52472315G>A	ENSP00000243644:p.Gln29*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96G73|Q9HAQ4	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.Q29*	ENST00000243644.4	37	c.85	CCDS12845.1	19	.	.	.	.	.	.	.	.	.	.	G	16.16	3.044995	0.55110	.	.	ENSG00000256683	ENST00000243644	.	.	.	3.43	3.43	0.39272	.	0.000000	0.32401	N	0.006152	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	7.9576	0.30051	0.0:0.0:0.7556:0.2444	.	.	.	.	X	29	.	ENSP00000243644:Q29X	Q	-	1	0	ZNF350	57164127	0.994000	0.37717	0.839000	0.33178	0.028000	0.11728	3.428000	0.52792	1.746000	0.51805	0.585000	0.79938	CAG	ZNF350	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000256683		0.527	ZNF350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF350	HGNC	protein_coding	OTTHUMT00000462278.1	168	0.00	0	G	NM_021632		52472315	52472315	-1	no_errors	ENST00000243644	ensembl	human	known	69_37n	nonsense	97	27.07	36	SNP	0.813	A
ZNF397	84307	genome.wustl.edu	37	18	32825835	32825835	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr18:32825835G>C	ENST00000330501.7	+	4	1319	c.1166G>C	c.(1165-1167)aGa>aCa	p.R389T	ZNF397_ENST00000261333.6_Intron|ZNF397_ENST00000355632.4_Intron|ZNF397_ENST00000592264.1_Intron|ZNF397_ENST00000589420.1_Intron	NM_001135178.2	NP_001128650.1	Q8NF99	ZN397_HUMAN	zinc finger protein 397	389					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)			breast(2)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	12						ATACATCAAAGAATTCACACT	0.383																																						dbGAP											0													46.0	48.0	48.0					18																	32825835		692	1591	2283	-	-	-	SO:0001583	missense	0			BC006172	CCDS32814.1, CCDS45852.1	18p12	2013-01-09	2003-07-22			ENSG00000186812		"""-"", ""Zinc fingers, C2H2-type"""	18818	protein-coding gene	gene with protein product		609601	"""zinc finger protein 47"""	ZNF47			Standard	NM_032347		Approved	ZSCAN15, MGC13250	uc010dmp.3	Q8NF99		ENST00000330501.7:c.1166G>C	18.37:g.32825835G>C	ENSP00000331577:p.Arg389Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BRM2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.R389T	ENST00000330501.7	37	c.1166	CCDS45852.1	18	.	.	.	.	.	.	.	.	.	.	G	16.73	3.203328	0.58234	.	.	ENSG00000186812	ENST00000330501	T	0.25414	1.8	4.21	2.23	0.28157	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36303	N	0.002673	T	0.44582	0.1300	M	0.84511	2.7	0.80722	D	1	D	0.55385	0.971	P	0.59595	0.86	T	0.41787	-0.9489	9	.	.	.	.	6.703	0.23234	0.1027:0.0:0.7205:0.1768	.	389	Q8NF99	ZN397_HUMAN	T	389	ENSP00000331577:R389T	.	R	+	2	0	ZNF397	31079833	0.517000	0.26226	1.000000	0.80357	0.980000	0.70556	2.446000	0.44908	1.120000	0.41904	0.305000	0.20034	AGA	ZNF397	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000186812		0.383	ZNF397-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF397	HGNC	protein_coding	OTTHUMT00000442398.1	57	0.00	0	G	NM_032347		32825835	32825835	+1	no_errors	ENST00000330501	ensembl	human	known	69_37n	missense	21	40.00	14	SNP	1.000	C
ZNF396	252884	genome.wustl.edu	37	18	32954210	32954210	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr18:32954210G>A	ENST00000589332.1	-	2	178	c.47C>T	c.(46-48)tCa>tTa	p.S16L	ZNF396_ENST00000586687.1_Missense_Mutation_p.S16L|ZNF396_ENST00000306346.1_Missense_Mutation_p.S16L			Q96N95	ZN396_HUMAN	zinc finger protein 396	16					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)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	7						ACACTCCTCTGAAGTTTGTGT	0.463																																						dbGAP											0													71.0	65.0	67.0					18																	32954210		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK055775	CCDS11913.1	18p12	2013-01-09			ENSG00000186496	ENSG00000186496		"""-"", ""Zinc fingers, C2H2-type"""	18824	protein-coding gene	gene with protein product		609600					Standard	NM_145756		Approved	ZSCAN14, FLJ31213	uc010xcf.1	Q96N95	OTTHUMG00000132562	ENST00000589332.1:c.47C>T	18.37:g.32954210G>A	ENSP00000466500:p.Ser16Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3V0|Q8NF98|Q8TD80	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.S16L	ENST00000589332.1	37	c.47		18	.	.	.	.	.	.	.	.	.	.	G	11.78	1.741196	0.30865	.	.	ENSG00000186496	ENST00000306346;ENST00000399057	T	0.07327	3.2	3.91	2.09	0.27110	.	1.377880	0.05520	U	0.561865	T	0.05960	0.0155	N	0.14661	0.345	0.09310	N	1	B	0.20671	0.047	B	0.15484	0.013	T	0.37888	-0.9686	10	0.59425	D	0.04	.	5.7107	0.17933	0.2509:0.0:0.7491:0.0	.	16	Q96N95-3	.	L	16	ENSP00000302310:S16L	ENSP00000302310:S16L	S	-	2	0	ZNF396	31208208	0.012000	0.17670	0.001000	0.08648	0.047000	0.14425	1.890000	0.39728	0.602000	0.29896	0.555000	0.69702	TCA	ZNF396	-	NULL	ENSG00000186496		0.463	ZNF396-002	KNOWN	basic|appris_principal	protein_coding	ZNF396	HGNC	protein_coding	OTTHUMT00000255766.1	46	0.00	0	G	NM_145756		32954210	32954210	-1	no_errors	ENST00000589332	ensembl	human	known	69_37n	missense	12	65.71	23	SNP	0.004	A
ZNF398	57541	genome.wustl.edu	37	7	148863295	148863295	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:148863295G>C	ENST00000475153.1	+	3	733	c.466G>C	c.(466-468)Gag>Cag	p.E156Q	ZNF398_ENST00000335901.4_5'UTR|ZNF398_ENST00000483892.1_5'UTR|ZNF398_ENST00000491174.1_5'UTR|ZNF398_ENST00000485111.1_3'UTR|ZNF398_ENST00000540950.1_Missense_Mutation_p.E161Q|ZNF398_ENST00000426851.2_5'UTR|ZNF398_ENST00000420008.2_5'UTR			Q8TD17	ZN398_HUMAN	zinc finger protein 398	156	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				positive regulation of transcription, DNA-templated (GO:0045893)|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.E156K(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			TTCCACTCCAGAGTGGGAAAA	0.408																																						dbGAP											1	Substitution - Missense(1)	lung(1)											116.0	115.0	115.0					7																	148863295		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037760	CCDS5894.1, CCDS47739.1	7q35	2013-01-08			ENSG00000197024	ENSG00000197024		"""Zinc fingers, C2H2-type"", ""-"""	18373	protein-coding gene	gene with protein product						11779858	Standard	NM_170686		Approved	ZER6, KIAA1339, P51, P71	uc003wfl.3	Q8TD17	OTTHUMG00000158970	ENST00000475153.1:c.466G>C	7.37:g.148863295G>C	ENSP00000420418:p.Glu156Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K384|B4E377|Q8TD18|Q9P2K7|Q9UDV8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.E161Q	ENST00000475153.1	37	c.481	CCDS5894.1	7	.	.	.	.	.	.	.	.	.	.	G	23.1	4.380794	0.82792	.	.	ENSG00000197024	ENST00000475153;ENST00000540950	T;T	0.11604	2.76;2.76	5.24	5.24	0.73138	Krueppel-associated box (4);	0.000000	0.43416	D	0.000572	T	0.43787	0.1263	M	0.92691	3.335	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.87578	0.995;0.998	T	0.56475	-0.7973	10	0.87932	D	0	-21.0208	16.328	0.82994	0.0:0.0:1.0:0.0	.	161;156	B4DXA9;Q8TD17	.;ZN398_HUMAN	Q	156;161	ENSP00000420418:E156Q;ENSP00000439340:E161Q	ENSP00000420418:E156Q	E	+	1	0	ZNF398	148494228	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.779000	0.68948	2.444000	0.82710	0.563000	0.77884	GAG	ZNF398	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	ENSG00000197024		0.408	ZNF398-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF398	HGNC	protein_coding	OTTHUMT00000352722.2	100	0.00	0	G			148863295	148863295	+1	no_errors	ENST00000540950	ensembl	human	known	69_37n	missense	55	35.29	30	SNP	1.000	C
ZNF43	7594	genome.wustl.edu	37	19	21991413	21991413	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:21991413G>A	ENST00000354959.4	-	4	1595	c.1426C>T	c.(1426-1428)Cat>Tat	p.H476Y	ZNF43_ENST00000595461.1_Missense_Mutation_p.H470Y|ZNF43_ENST00000598381.1_Missense_Mutation_p.H470Y|ZNF43_ENST00000594012.1_Missense_Mutation_p.H470Y	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	476					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)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TCTGCAGTATGAATTCTCTTA	0.358																																						dbGAP											0													60.0	61.0	61.0					19																	21991413		2203	4300	6503	-	-	-	SO:0001583	missense	0			X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"""Zinc fingers, C2H2-type"", ""-"""	13109	protein-coding gene	gene with protein product		603972	"""zinc finger protein 39-like 1 (KOX 27)"", ""zinc finger protein 43 (HTF6)"""	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.1426C>T	19.37:g.21991413G>A	ENSP00000347045:p.His476Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	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.H476Y	ENST00000354959.4	37	c.1426	CCDS12413.2	19	.	.	.	.	.	.	.	.	.	.	G	12.82	2.053380	0.36181	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	T	0.67523	-0.27	1.75	0.54	0.17163	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.79862	0.4519	H	0.95884	3.735	0.31744	N	0.635445	P	0.34909	0.475	P	0.45099	0.469	T	0.80313	-0.1435	9	0.72032	D	0.01	.	8.6238	0.33877	0.0:0.2405:0.7595:0.0	.	476	P17038	ZNF43_HUMAN	Y	475;476	ENSP00000347045:H476Y	ENSP00000347045:H476Y	H	-	1	0	ZNF43	21783253	1.000000	0.71417	0.019000	0.16419	0.915000	0.54546	4.915000	0.63355	0.051000	0.15978	0.298000	0.19748	CAT	ZNF43	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198521		0.358	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF43	HGNC	protein_coding	OTTHUMT00000250380.2	76	0.00	0	G	NM_003423		21991413	21991413	-1	no_errors	ENST00000354959	ensembl	human	known	69_37n	missense	41	38.81	26	SNP	1.000	A
ZNF420	147923	genome.wustl.edu	37	19	37619746	37619746	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:37619746G>A	ENST00000337995.3	+	5	2068	c.1853G>A	c.(1852-1854)aGa>aAa	p.R618K	CTC-454I21.4_ENST00000587645.1_RNA|ZNF585A_ENST00000588723.1_Intron|ZNF420_ENST00000586540.1_3'UTR|ZNF420_ENST00000304239.7_Intron	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	618					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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TATGAATGCAGAGAATGTAGA	0.443																																						dbGAP											0													67.0	65.0	66.0					19																	37619746		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK056695	CCDS12498.1	19q13.12	2013-01-08			ENSG00000197050	ENSG00000197050		"""Zinc fingers, C2H2-type"", ""-"""	20649	protein-coding gene	gene with protein product							Standard	NM_144689		Approved	FLJ32191	uc002ofl.3	Q8TAQ5	OTTHUMG00000048168	ENST00000337995.3:c.1853G>A	19.37:g.37619746G>A	ENSP00000338770:p.Arg618Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDY6|Q96ML5	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.R618K	ENST00000337995.3	37	c.1853	CCDS12498.1	19	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.572051	0.00895	.	.	ENSG00000197050	ENST00000337995	T	0.07114	3.22	4.28	2.03	0.26663	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02119	0.0066	N	0.00801	-1.175	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.47071	-0.9145	8	.	.	.	.	3.896	0.09139	0.5939:0.0:0.0992:0.3069	.	618	Q8TAQ5	ZN420_HUMAN	K	618	ENSP00000338770:R618K	.	R	+	2	0	ZNF420	42311586	0.000000	0.05858	0.970000	0.41538	0.857000	0.48899	-1.774000	0.01784	0.693000	0.31634	-0.302000	0.09304	AGA	ZNF420	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197050		0.443	ZNF420-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF420	HGNC	protein_coding	OTTHUMT00000109587.3	89	0.00	0	G	NM_144689		37619746	37619746	+1	no_errors	ENST00000337995	ensembl	human	known	69_37n	missense	40	24.53	13	SNP	0.008	A
ZNF432	9668	genome.wustl.edu	37	19	52537581	52537581	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:52537581G>A	ENST00000594154.1	-	5	1563	c.1351C>T	c.(1351-1353)Cat>Tat	p.H451Y	ZNF432_ENST00000221315.5_Missense_Mutation_p.H451Y			O94892	ZN432_HUMAN	zinc finger protein 432	451					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(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TCTCCTGTATGAGTTCGCTGA	0.428																																						dbGAP											0													96.0	89.0	91.0					19																	52537581		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018341	CCDS12848.1	19q13.41	2013-01-08				ENSG00000256087		"""Zinc fingers, C2H2-type"", ""-"""	20810	protein-coding gene	gene with protein product						9872452	Standard	NM_014650		Approved	KIAA0798	uc002pyk.3	O94892		ENST00000594154.1:c.1351C>T	19.37:g.52537581G>A	ENSP00000470488:p.His451Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H451Y	ENST00000594154.1	37	c.1351	CCDS12848.1	19	.	.	.	.	.	.	.	.	.	.	G	17.31	3.356040	0.61293	.	.	ENSG00000256087	ENST00000221315	T	0.67523	-0.27	2.81	2.81	0.32909	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.85660	0.5748	H	0.95260	3.645	0.32236	N	0.573299	D	0.67145	0.996	D	0.75020	0.985	D	0.88846	0.3316	9	0.87932	D	0	.	12.7967	0.57564	0.0:0.0:1.0:0.0	.	451	O94892	ZN432_HUMAN	Y	451	ENSP00000221315:H451Y	ENSP00000221315:H451Y	H	-	1	0	ZNF432	57229393	1.000000	0.71417	0.998000	0.56505	0.843000	0.47879	8.418000	0.90250	1.577000	0.49804	0.655000	0.94253	CAT	ZNF432	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000256087		0.428	ZNF432-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF432	HGNC	protein_coding	OTTHUMT00000462410.1	102	0.00	0	G	NM_014650		52537581	52537581	-1	no_errors	ENST00000221315	ensembl	human	known	69_37n	missense	78	22.77	23	SNP	1.000	A
ZNF432	9668	genome.wustl.edu	37	19	52543831	52543831	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:52543831G>C	ENST00000594154.1	-	4	360	c.148C>G	c.(148-150)Caa>Gaa	p.Q50E	ZNF432_ENST00000221315.5_Missense_Mutation_p.Q50E|ZNF432_ENST00000597273.1_Missense_Mutation_p.Q50E			O94892	ZN432_HUMAN	zinc finger protein 432	50	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)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TTGCTGACTTGATAACCTGTT	0.423																																						dbGAP											0													221.0	169.0	187.0					19																	52543831		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018341	CCDS12848.1	19q13.41	2013-01-08				ENSG00000256087		"""Zinc fingers, C2H2-type"", ""-"""	20810	protein-coding gene	gene with protein product						9872452	Standard	NM_014650		Approved	KIAA0798	uc002pyk.3	O94892		ENST00000594154.1:c.148C>G	19.37:g.52543831G>C	ENSP00000470488:p.Gln50Glu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q50E	ENST00000594154.1	37	c.148	CCDS12848.1	19	.	.	.	.	.	.	.	.	.	.	G	0.047	-1.264205	0.01433	.	.	ENSG00000256087	ENST00000221315	T	0.00784	5.7	3.81	1.52	0.23074	Krueppel-associated box (3);	.	.	.	.	T	0.00666	0.0022	N	0.25380	0.74	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44802	-0.9304	9	0.05436	T	0.98	.	11.0777	0.48040	0.0:0.3634:0.6366:0.0	.	50	O94892	ZN432_HUMAN	E	50	ENSP00000221315:Q50E	ENSP00000221315:Q50E	Q	-	1	0	ZNF432	57235643	0.002000	0.14202	0.025000	0.17156	0.168000	0.22595	0.716000	0.25836	0.224000	0.20940	0.655000	0.94253	CAA	ZNF432	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000256087		0.423	ZNF432-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF432	HGNC	protein_coding	OTTHUMT00000462410.1	167	0.00	0	G	NM_014650		52543831	52543831	-1	no_errors	ENST00000221315	ensembl	human	known	69_37n	missense	115	24.34	37	SNP	0.030	C
ZNF416	55659	genome.wustl.edu	37	19	58084933	58084933	+	Silent	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:58084933C>A	ENST00000196489.3	-	4	561	c.339G>T	c.(337-339)ctG>ctT	p.L113L		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	113					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(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		AAATGTCGGTCAGGAATGGGA	0.512																																						dbGAP											0													122.0	105.0	110.0					19																	58084933		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC000130	CCDS12954.1	19q13.4	2013-01-08				ENSG00000083817		"""Zinc fingers, C2H2-type"", ""-"""	20645	protein-coding gene	gene with protein product							Standard	NM_017879		Approved	FLJ20557	uc002qpf.3	Q9BWM5		ENST00000196489.3:c.339G>T	19.37:g.58084933C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NWW8	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.L113	ENST00000196489.3	37	c.339	CCDS12954.1	19																																																																																			ZNF416	-	NULL	ENSG00000083817		0.512	ZNF416-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF416	HGNC	protein_coding	OTTHUMT00000466787.1	85	0.00	0	C	NM_017879		58084933	58084933	-1	no_errors	ENST00000196489	ensembl	human	known	69_37n	silent	78	22.77	23	SNP	0.002	A
ZNF454	285676	genome.wustl.edu	37	5	178392175	178392175	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:178392175C>A	ENST00000320129.3	+	5	1073	c.770C>A	c.(769-771)tCc>tAc	p.S257Y	ZNF454_ENST00000519564.1_Missense_Mutation_p.S257Y	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	257					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(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		TCAGTGAGCTCCTCACTTACG	0.433																																						dbGAP											0													86.0	91.0	89.0					5																	178392175		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK094763	CCDS4441.1	5q35.3	2013-01-08			ENSG00000178187	ENSG00000178187		"""Zinc fingers, C2H2-type"", ""-"""	21200	protein-coding gene	gene with protein product							Standard	NM_182594		Approved	FLJ37444	uc021yjc.1	Q8N9F8	OTTHUMG00000130891	ENST00000320129.3:c.770C>A	5.37:g.178392175C>A	ENSP00000326249:p.Ser257Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M1P2|Q2M323	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.S257Y	ENST00000320129.3	37	c.770	CCDS4441.1	5	.	.	.	.	.	.	.	.	.	.	C	13.43	2.234308	0.39498	.	.	ENSG00000178187	ENST00000320129;ENST00000519564	T;T	0.37058	1.22;1.22	4.46	3.52	0.40303	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.394519	0.18841	N	0.129669	T	0.50548	0.1622	M	0.80332	2.49	0.09310	N	1	D	0.67145	0.996	P	0.56700	0.804	T	0.44406	-0.9330	10	0.66056	D	0.02	-15.1912	7.1735	0.25732	0.1905:0.6253:0.1842:0.0	.	257	Q8N9F8	ZN454_HUMAN	Y	257	ENSP00000326249:S257Y;ENSP00000430354:S257Y	ENSP00000326249:S257Y	S	+	2	0	ZNF454	178324781	0.000000	0.05858	1.000000	0.80357	0.723000	0.41478	0.255000	0.18333	2.469000	0.83416	0.555000	0.69702	TCC	ZNF454	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000178187		0.433	ZNF454-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF454	HGNC	protein_coding	OTTHUMT00000253476.2	50	0.00	0	C	XM_209718		178392175	178392175	+1	no_errors	ENST00000320129	ensembl	human	known	69_37n	missense	25	26.47	9	SNP	0.001	A
ZNF454	285676	genome.wustl.edu	37	5	178392438	178392438	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:178392438C>T	ENST00000320129.3	+	5	1336	c.1033C>T	c.(1033-1035)Cag>Tag	p.Q345*	ZNF454_ENST00000519564.1_Nonsense_Mutation_p.Q345*	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	345					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(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		AAGTTTCCTTCAGCATCAGAG	0.423																																						dbGAP											0													49.0	53.0	51.0					5																	178392438		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK094763	CCDS4441.1	5q35.3	2013-01-08			ENSG00000178187	ENSG00000178187		"""Zinc fingers, C2H2-type"", ""-"""	21200	protein-coding gene	gene with protein product							Standard	NM_182594		Approved	FLJ37444	uc021yjc.1	Q8N9F8	OTTHUMG00000130891	ENST00000320129.3:c.1033C>T	5.37:g.178392438C>T	ENSP00000326249:p.Gln345*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M1P2|Q2M323	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.Q345*	ENST00000320129.3	37	c.1033	CCDS4441.1	5	.	.	.	.	.	.	.	.	.	.	C	16.75	3.208812	0.58343	.	.	ENSG00000178187	ENST00000320129;ENST00000519564	.	.	.	4.21	3.25	0.37280	.	0.000000	0.38959	N	0.001507	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-4.6128	4.7194	0.12912	0.2147:0.6745:0.0:0.1108	.	.	.	.	X	345	.	ENSP00000326249:Q345X	Q	+	1	0	ZNF454	178325044	0.000000	0.05858	0.999000	0.59377	0.063000	0.16089	-0.798000	0.04565	2.344000	0.79699	0.650000	0.86243	CAG	ZNF454	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000178187		0.423	ZNF454-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF454	HGNC	protein_coding	OTTHUMT00000253476.2	69	0.00	0	C	XM_209718		178392438	178392438	+1	no_errors	ENST00000320129	ensembl	human	known	69_37n	nonsense	37	42.19	27	SNP	0.020	T
ZNF462	58499	genome.wustl.edu	37	9	109688481	109688481	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:109688481G>C	ENST00000277225.5	+	3	2577	c.2288G>C	c.(2287-2289)aGa>aCa	p.R763T	ZNF462_ENST00000457913.1_Missense_Mutation_p.R763T|ZNF462_ENST00000441147.2_5'Flank			Q96JM2	ZN462_HUMAN	zinc finger protein 462	763					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						ATATGGGTAAGAGATACCAGT	0.488																																						dbGAP											0													94.0	93.0	93.0					9																	109688481		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.2288G>C	9.37:g.109688481G>C	ENSP00000277225:p.Arg763Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T0T4|Q8N408	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R763T	ENST00000277225.5	37	c.2288	CCDS35096.1	9	.	.	.	.	.	.	.	.	.	.	G	12.00	1.806854	0.31961	.	.	ENSG00000148143	ENST00000277225;ENST00000457913	T;T	0.06849	3.25;3.69	5.87	4.97	0.65823	.	0.184787	0.64402	D	0.000017	T	0.08044	0.0201	L	0.32530	0.975	0.80722	D	1	P;B	0.41848	0.763;0.18	B;B	0.36608	0.229;0.11	T	0.31364	-0.9946	9	.	.	.	.	17.038	0.86481	0.0:0.1272:0.8728:0.0	.	763;763	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	T	763	ENSP00000277225:R763T;ENSP00000414570:R763T	.	R	+	2	0	ZNF462	108728302	1.000000	0.71417	0.842000	0.33263	0.953000	0.61014	5.689000	0.68234	1.457000	0.47850	0.650000	0.86243	AGA	ZNF462	-	NULL	ENSG00000148143		0.488	ZNF462-001	KNOWN	basic|CCDS	protein_coding	ZNF462	HGNC	protein_coding	OTTHUMT00000053532.2	63	0.00	0	G	NM_021224		109688481	109688481	+1	no_errors	ENST00000457913	ensembl	human	known	69_37n	missense	43	41.89	31	SNP	0.998	C
ZNF462	58499	genome.wustl.edu	37	9	109690550	109690550	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:109690550G>T	ENST00000277225.5	+	3	4646	c.4357G>T	c.(4357-4359)Gag>Tag	p.E1453*	ZNF462_ENST00000457913.1_Nonsense_Mutation_p.E1453*|ZNF462_ENST00000441147.2_Nonsense_Mutation_p.E298*			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1453					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						ACTGTCCCCTGAGAAAAGCCT	0.532																																						dbGAP											0													53.0	55.0	54.0					9																	109690550		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.4357G>T	9.37:g.109690550G>T	ENSP00000277225:p.Glu1453*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T0T4|Q8N408	Nonsense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E1453*	ENST00000277225.5	37	c.4357	CCDS35096.1	9	.	.	.	.	.	.	.	.	.	.	G	42	9.572783	0.99208	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147	.	.	.	5.84	5.84	0.93424	.	0.096016	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	20.1278	0.97990	0.0:0.0:1.0:0.0	.	.	.	.	X	1453;1453;336;298	.	ENSP00000277225:E1453X	E	+	1	0	ZNF462	108730371	1.000000	0.71417	0.995000	0.50966	0.144000	0.21451	9.008000	0.93601	2.768000	0.95171	0.561000	0.74099	GAG	ZNF462	-	NULL	ENSG00000148143		0.532	ZNF462-001	KNOWN	basic|CCDS	protein_coding	ZNF462	HGNC	protein_coding	OTTHUMT00000053532.2	32	0.00	0	G	NM_021224		109690550	109690550	+1	no_errors	ENST00000457913	ensembl	human	known	69_37n	nonsense	40	35.48	22	SNP	1.000	T
ZNF462	58499	genome.wustl.edu	37	9	109736552	109736552	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:109736552G>A	ENST00000277225.5	+	9	7119	c.6830G>A	c.(6829-6831)cGa>cAa	p.R2277Q	ZNF462_ENST00000542028.1_Missense_Mutation_p.R234Q|ZNF462_ENST00000457913.1_Missense_Mutation_p.R2337Q|RP11-508N12.2_ENST00000439901.1_RNA|ZNF462_ENST00000441147.2_Missense_Mutation_p.R1183Q			Q96JM2	ZN462_HUMAN	zinc finger protein 462	2277				Missing (in Ref. 4; AK027866). {ECO:0000305}.	chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GTGCTGCACCGAGGTAACCTT	0.547																																						dbGAP											0													268.0	259.0	262.0					9																	109736552		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.6830G>A	9.37:g.109736552G>A	ENSP00000277225:p.Arg2277Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T0T4|Q8N408	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R2337Q	ENST00000277225.5	37	c.7010	CCDS35096.1	9	.	.	.	.	.	.	.	.	.	.	G	35	5.499366	0.96355	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147;ENST00000542028	T;T;T;T;T	0.15139	3.4;3.88;3.97;3.98;2.45	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.36166	0.0957	L	0.42245	1.32	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.994;0.992;0.988	T	0.03545	-1.1026	10	0.52906	T	0.07	.	19.054	0.93055	0.0:0.0:1.0:0.0	.	2337;178;2277	Q96JM2-3;Q5T0T2;Q96JM2	.;.;ZN462_HUMAN	Q	2277;2337;1220;1183;234	ENSP00000277225:R2277Q;ENSP00000414570:R2337Q;ENSP00000363818:R1220Q;ENSP00000397306:R1183Q;ENSP00000439771:R234Q	ENSP00000277225:R2277Q	R	+	2	0	ZNF462	108776373	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.434000	0.97515	2.662000	0.90505	0.557000	0.71058	CGA	ZNF462	-	NULL	ENSG00000148143		0.547	ZNF462-001	KNOWN	basic|CCDS	protein_coding	ZNF462	HGNC	protein_coding	OTTHUMT00000053532.2	95	0.00	0	G	NM_021224		109736552	109736552	+1	no_errors	ENST00000457913	ensembl	human	known	69_37n	missense	103	16.13	20	SNP	1.000	A
ZNF468	90333	genome.wustl.edu	37	19	53345029	53345029	+	Missense_Mutation	SNP	G	G	A	rs557421265		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:53345029G>A	ENST00000595646.1	-	4	638	c.518C>T	c.(517-519)tCa>tTa	p.S173L	ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000396409.4_Missense_Mutation_p.S120L|ZNF468_ENST00000243639.4_3'UTR|ZNF468_ENST00000390651.4_Missense_Mutation_p.S120L			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	173					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(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		TGTTGAAACTGAGGAAGCATT	0.373																																						dbGAP											0													115.0	121.0	119.0					19																	53345029		2203	4297	6500	-	-	-	SO:0001583	missense	0			AK023558	CCDS33094.1, CCDS62781.1	19q13.41	2013-01-08				ENSG00000204604		"""Zinc fingers, C2H2-type"", ""-"""	33105	protein-coding gene	gene with protein product						16144304	Standard	NM_001277120		Approved		uc002qaf.3	Q5VIY5		ENST00000595646.1:c.518C>T	19.37:g.53345029G>A	ENSP00000470381:p.Ser173Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MV20|Q5CZB8|Q5VIY4|Q68DI7	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.S173L	ENST00000595646.1	37	c.518	CCDS33094.1	19	.	.	.	.	.	.	.	.	.	.	a	1.722	-0.496438	0.04291	.	.	ENSG00000204604	ENST00000243639;ENST00000396409;ENST00000390651	T;T	0.07114	3.22;3.22	1.62	-0.853	0.10709	.	.	.	.	.	T	0.04907	0.0132	L	0.39898	1.24	0.09310	N	1	P	0.41524	0.753	B	0.33121	0.158	T	0.38887	-0.9640	9	0.22706	T	0.39	.	4.2601	0.10737	0.1675:0.2385:0.594:0.0	.	173	Q5VIY5	ZN468_HUMAN	L	173;120;120	ENSP00000379690:S120L;ENSP00000445669:S120L	ENSP00000243639:S173L	S	-	2	0	ZNF468	58036841	0.000000	0.05858	0.000000	0.03702	0.071000	0.16799	-0.259000	0.08721	-0.149000	0.11215	0.174000	0.16983	TCA	ZNF468	-	NULL	ENSG00000204604		0.373	ZNF468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF468	HGNC	protein_coding	OTTHUMT00000463098.1	119	0.00	0	G	NM_001008801		53345029	53345029	-1	no_errors	ENST00000243639	ensembl	human	known	69_37n	missense	102	20.93	27	SNP	0.000	A
ZNF473	25888	genome.wustl.edu	37	19	50549316	50549316	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:50549316G>C	ENST00000595661.1	+	6	2111	c.1616G>C	c.(1615-1617)aGa>aCa	p.R539T	CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000445728.3_Missense_Mutation_p.R527T|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000270617.3_Missense_Mutation_p.R539T|ZNF473_ENST00000391821.2_Missense_Mutation_p.R539T|CTD-2126E3.3_ENST00000599410.1_RNA			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	539	Interaction with SLBP/pre-mRNA complex.				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)		GTTCACGCCAGAGAAAAACAA	0.443																																						dbGAP											0													75.0	73.0	74.0					19																	50549316		2203	4300	6503	-	-	-	SO:0001583	missense	0			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		ENST00000595661.1:c.1616G>C	19.37:g.50549316G>C	ENSP00000472808:p.Arg539Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8T7|Q9ULS9|Q9Y4Q7	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.R539T	ENST00000595661.1	37	c.1616	CCDS33077.1	19	.	.	.	.	.	.	.	.	.	.	G	4.895	0.166271	0.09339	.	.	ENSG00000142528	ENST00000270617;ENST00000391821;ENST00000445728	T;T;T	0.53206	0.63;0.63;0.63	4.36	-0.236	0.13067	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.765924	0.11337	N	0.574449	T	0.34019	0.0883	L	0.43646	1.37	0.22591	N	0.998955	B	0.33694	0.421	B	0.29785	0.107	T	0.25984	-1.0116	10	0.87932	D	0	-2.5662	5.4933	0.16789	0.2641:0.1473:0.5886:0.0	.	539	Q8WTR7	ZN473_HUMAN	T	539;539;527	ENSP00000270617:R539T;ENSP00000375697:R539T;ENSP00000388961:R527T	ENSP00000270617:R539T	R	+	2	0	ZNF473	55241128	0.001000	0.12720	0.020000	0.16555	0.091000	0.18340	0.970000	0.29383	0.071000	0.16664	0.609000	0.83330	AGA	ZNF473	-	pfscan_Znf_C2H2	ENSG00000142528		0.443	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF473	HGNC	protein_coding	OTTHUMT00000464833.1	52	0.00	0	G	XM_046390		50549316	50549316	+1	no_errors	ENST00000270617	ensembl	human	known	69_37n	missense	33	28.26	13	SNP	0.435	C
ZNF471	57573	genome.wustl.edu	37	19	57035792	57035792	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:57035792C>G	ENST00000308031.5	+	5	489	c.356C>G	c.(355-357)tCc>tGc	p.S119C	ZNF471_ENST00000591537.1_Intron|ZNF471_ENST00000593197.1_Intron	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	119					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)	p.S119F(1)		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)		CTTGAGTGTTCCACTTTTGAA	0.378																																					Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)	dbGAP											1	Substitution - Missense(1)	lung(1)											86.0	82.0	83.0					19																	57035792		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.356C>G	19.37:g.57035792C>G	ENSP00000309161:p.Ser119Cys	Somatic		WXS	Illumina GAIIx	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.S119C	ENST00000308031.5	37	c.356	CCDS12945.1	19	.	.	.	.	.	.	.	.	.	.	C	13.67	2.305918	0.40795	.	.	ENSG00000196263	ENST00000308031	T	0.06933	3.24	3.95	1.61	0.23674	.	.	.	.	.	T	0.11196	0.0273	L	0.57536	1.79	0.09310	N	1	D	0.60575	0.988	P	0.46975	0.533	T	0.20739	-1.0266	9	0.35671	T	0.21	.	7.3183	0.26513	0.0:0.5848:0.3213:0.094	.	119	Q9BX82	ZN471_HUMAN	C	119	ENSP00000309161:S119C	ENSP00000309161:S119C	S	+	2	0	ZNF471	61727604	0.002000	0.14202	0.005000	0.12908	0.940000	0.58332	0.172000	0.16704	0.378000	0.24764	0.563000	0.77884	TCC	ZNF471	-	NULL	ENSG00000196263		0.378	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF471	HGNC	protein_coding	OTTHUMT00000458405.1	78	0.00	0	C	NM_020813		57035792	57035792	+1	no_errors	ENST00000308031	ensembl	human	known	69_37n	missense	58	19.44	14	SNP	0.011	G
ZNF483	158399	genome.wustl.edu	37	9	114296571	114296571	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:114296571C>T	ENST00000309235.5	+	5	817	c.659C>T	c.(658-660)tCc>tTc	p.S220F	ZNF483_ENST00000358151.4_Missense_Mutation_p.S220F|ZNF483_ENST00000355824.3_Missense_Mutation_p.S220F	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	220	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)			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						GAGTTGATTTCCCAGCTAAAG	0.383																																						dbGAP											0													97.0	102.0	100.0					9																	114296571		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB075842	CCDS35105.1, CCDS35106.1	9q32	2013-01-09			ENSG00000173258	ENSG00000173258		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23384	protein-coding gene	gene with protein product							Standard	NM_001007169		Approved	ZKSCAN16, KIAA1962, ZSCAN48	uc004bff.2	Q8TF39	OTTHUMG00000020490	ENST00000309235.5:c.659C>T	9.37:g.114296571C>T	ENSP00000311679:p.Ser220Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VZN2|Q8NAE1	Missense_Mutation	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.S220F	ENST00000309235.5	37	c.659	CCDS35106.1	9	.	.	.	.	.	.	.	.	.	.	C	12.73	2.026306	0.35701	.	.	ENSG00000173258	ENST00000358151;ENST00000355824;ENST00000309235	T;T;T	0.00864	5.6;5.6;5.6	4.59	3.69	0.42338	Krueppel-associated box (3);	0.000000	0.44483	D	0.000443	T	0.01222	0.0040	L	0.52823	1.66	0.32628	N	0.522373	B;B;P	0.41978	0.164;0.164;0.767	B;B;B	0.40940	0.049;0.049;0.344	T	0.48068	-0.9067	10	0.23891	T	0.37	-7.6689	7.9378	0.29939	0.0:0.8923:0.0:0.1077	.	220;220;220	Q6P088;Q8NAE1;Q8TF39	.;.;ZN483_HUMAN	F	220	ENSP00000350871:S220F;ENSP00000438048:S220F;ENSP00000311679:S220F	ENSP00000311679:S220F	S	+	2	0	ZNF483	113336392	1.000000	0.71417	1.000000	0.80357	0.053000	0.15095	3.718000	0.54919	2.563000	0.86464	0.650000	0.86243	TCC	ZNF483	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000173258		0.383	ZNF483-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF483	HGNC	protein_coding	OTTHUMT00000053641.1	106	0.00	0	C	XM_088567		114296571	114296571	+1	no_errors	ENST00000309235	ensembl	human	known	69_37n	missense	94	25.40	32	SNP	1.000	T
ZNF483	158399	genome.wustl.edu	37	9	114304256	114304256	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:114304256G>A	ENST00000309235.5	+	6	1199	c.1041G>A	c.(1039-1041)ctG>ctA	p.L347L	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	347					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(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						ACCTTGTTCTGAACCGCAAGG	0.423																																						dbGAP											0													84.0	95.0	91.0					9																	114304256		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AB075842	CCDS35105.1, CCDS35106.1	9q32	2013-01-09			ENSG00000173258	ENSG00000173258		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23384	protein-coding gene	gene with protein product							Standard	NM_001007169		Approved	ZKSCAN16, KIAA1962, ZSCAN48	uc004bff.2	Q8TF39	OTTHUMG00000020490	ENST00000309235.5:c.1041G>A	9.37:g.114304256G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VZN2|Q8NAE1	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.L347	ENST00000309235.5	37	c.1041	CCDS35106.1	9																																																																																			ZNF483	-	NULL	ENSG00000173258		0.423	ZNF483-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF483	HGNC	protein_coding	OTTHUMT00000053641.1	48	0.00	0	G	XM_088567		114304256	114304256	+1	no_errors	ENST00000309235	ensembl	human	known	69_37n	silent	40	25.93	14	SNP	0.003	A
ZNF485	220992	genome.wustl.edu	37	10	44112175	44112175	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:44112175C>G	ENST00000361807.3	+	5	878	c.684C>G	c.(682-684)atC>atG	p.I228M	ZNF485_ENST00000374435.3_Missense_Mutation_p.I228M|ZNF485_ENST00000374437.2_Missense_Mutation_p.I137M	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	228					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(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						AGAACTCAATCCTTTTAAGTC	0.398																																						dbGAP											0													50.0	54.0	52.0					10																	44112175		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074679	CCDS7205.2	10q11.21	2013-01-08			ENSG00000198298	ENSG00000198298		"""Zinc fingers, C2H2-type"", ""-"""	23440	protein-coding gene	gene with protein product							Standard	NM_145312		Approved		uc010qfc.2	Q8NCK3	OTTHUMG00000018040	ENST00000361807.3:c.684C>G	10.37:g.44112175C>G	ENSP00000354694:p.Ile228Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DSE6|Q96CL0	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.I228M	ENST00000361807.3	37	c.684	CCDS7205.2	10	.	.	.	.	.	.	.	.	.	.	C	4.441	0.081576	0.08533	.	.	ENSG00000198298	ENST00000361807;ENST00000374437;ENST00000374435	T;T;T	0.36520	1.25;1.25;1.25	2.02	-0.0472	0.13844	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17746	0.0426	N	0.17474	0.49	0.09310	N	0.999999	B	0.26775	0.159	B	0.18561	0.022	T	0.16837	-1.0389	9	0.36615	T	0.2	.	4.1023	0.10018	0.2274:0.6256:0.0:0.147	.	228	Q8NCK3	ZN485_HUMAN	M	228;137;228	ENSP00000354694:I228M;ENSP00000363560:I137M;ENSP00000363558:I228M	ENSP00000354694:I228M	I	+	3	3	ZNF485	43432181	0.000000	0.05858	0.305000	0.25099	0.958000	0.62258	-3.347000	0.00503	-0.020000	0.14032	0.462000	0.41574	ATC	ZNF485	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198298		0.398	ZNF485-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF485	HGNC	protein_coding	OTTHUMT00000047719.2	66	0.00	0	C	NM_145312		44112175	44112175	+1	no_errors	ENST00000361807	ensembl	human	known	69_37n	missense	19	34.48	10	SNP	0.106	G
ZSCAN25	221785	genome.wustl.edu	37	7	99220183	99220183	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:99220183C>G	ENST00000394152.2	+	6	928	c.601C>G	c.(601-603)Ctg>Gtg	p.L201V	ZSCAN25_ENST00000334715.3_Missense_Mutation_p.L201V|ZSCAN25_ENST00000262941.6_Intron|ZSCAN25_ENST00000466948.1_Intron	NM_145115.2	NP_660090.2	Q6NSZ9	ZSC25_HUMAN	zinc finger and SCAN domain containing 25	201					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)										ACTACCTGTTCTGCAGGCGGG	0.527																																						dbGAP											0													107.0	108.0	107.0					7																	99220183		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK057030	CCDS5671.2	7q22.1	2013-01-09	2013-01-09	2013-01-09	ENSG00000197037	ENSG00000197037		"""-"", ""Zinc fingers, C2H2-type"""	21961	protein-coding gene	gene with protein product			"""zinc finger protein 498"""	ZNF498		11179890	Standard	XM_005250194		Approved	FLJ32468	uc003url.1	Q6NSZ9	OTTHUMG00000074055	ENST00000394152.2:c.601C>G	7.37:g.99220183C>G	ENSP00000377708:p.Leu201Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D290|D6W5T5|Q14C82|Q14C99|Q5EBM9|Q6DJZ0|Q6N032|Q6ZML3	Missense_Mutation	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.L201V	ENST00000394152.2	37	c.601	CCDS5671.2	7	.	.	.	.	.	.	.	.	.	.	C	12.34	1.909481	0.33721	.	.	ENSG00000197037	ENST00000394152;ENST00000334715	T;T	0.08102	3.13;3.13	4.92	4.92	0.64577	.	0.000000	0.44285	D	0.000470	T	0.17152	0.0412	L	0.29908	0.895	0.80722	D	1	D	0.63880	0.993	D	0.70016	0.967	T	0.01033	-1.1474	10	0.40728	T	0.16	-16.2204	14.3556	0.66735	0.0:1.0:0.0:0.0	.	201	Q6NSZ9	ZN498_HUMAN	V	201	ENSP00000377708:L201V;ENSP00000334800:L201V	ENSP00000334800:L201V	L	+	1	2	ZNF498	99058119	0.997000	0.39634	0.825000	0.32803	0.138000	0.21146	3.562000	0.53777	2.659000	0.90383	0.655000	0.94253	CTG	ZNF498	-	NULL	ENSG00000197037		0.527	ZSCAN25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF498	HGNC	protein_coding	OTTHUMT00000157203.4	77	0.00	0	C	NM_145115		99220183	99220183	+1	no_errors	ENST00000334715	ensembl	human	known	69_37n	missense	56	26.32	20	SNP	0.927	G
ZNF507	22847	genome.wustl.edu	37	19	32844181	32844181	+	Nonsense_Mutation	SNP	C	C	T	rs148996408		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:32844181C>T	ENST00000311921.4	+	2	637	c.445C>T	c.(445-447)Cag>Tag	p.Q149*	ZNF507_ENST00000355898.5_Nonsense_Mutation_p.Q149*|ZNF507_ENST00000544431.1_Nonsense_Mutation_p.Q149*	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	149					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(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					GCAACATGGTCAGCAAAATGA	0.418																																						dbGAP											0													99.0	89.0	92.0					19																	32844181		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB029007	CCDS32985.1	19q13.12	2008-02-05				ENSG00000168813		"""Zinc fingers, C2H2-type"""	23783	protein-coding gene	gene with protein product							Standard	NM_014910		Approved	KIAA1084	uc002ntd.3	Q8TCN5		ENST00000311921.4:c.445C>T	19.37:g.32844181C>T	ENSP00000312277:p.Gln149*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K911|Q2TBF1|Q6MZU0|Q9UPR8	Nonsense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q149*	ENST00000311921.4	37	c.445	CCDS32985.1	19	.	.	.	.	.	.	.	.	.	.	C	38	6.915104	0.97932	.	.	ENSG00000168813	ENST00000355898;ENST00000311921;ENST00000544431	.	.	.	6.06	6.06	0.98353	.	0.102498	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	20.6282	0.99521	0.0:1.0:0.0:0.0	.	.	.	.	X	149	.	ENSP00000312277:Q149X	Q	+	1	0	ZNF507	37536021	1.000000	0.71417	0.996000	0.52242	0.970000	0.65996	4.685000	0.61693	2.871000	0.98454	0.655000	0.94253	CAG	ZNF507	-	NULL	ENSG00000168813		0.418	ZNF507-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF507	HGNC	protein_coding	OTTHUMT00000450301.3	58	0.00	0	C	NM_014910		32844181	32844181	+1	no_errors	ENST00000311921	ensembl	human	known	69_37n	nonsense	25	46.81	22	SNP	1.000	T
PRAP1	118471	genome.wustl.edu	37	10	135165915	135165915	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr10:135165915G>A	ENST00000433452.2	+	5	699	c.427G>A	c.(427-429)Gac>Aac	p.D143N	FUOM_ENST00000465384.1_5'Flank|RP11-122K13.7_ENST00000452591.1_RNA|PRAP1_ENST00000458230.1_Missense_Mutation_p.D134N|PRAP1_ENST00000463201.1_3'UTR|PRAP1_ENST00000423766.1_Missense_Mutation_p.D144N|ZNF511_ENST00000368554.4_Missense_Mutation_p.D302N			Q96NZ9	PRAP1_HUMAN	proline-rich acidic protein 1	143						extracellular region (GO:0005576)				large_intestine(1)|lung(2)	3		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.08e-06)|OV - Ovarian serous cystadenocarcinoma(35;7.88e-06)|Epithelial(32;9.48e-06)		ACCGGAGGAAGACCAAGACCA	0.662																																						dbGAP											0													87.0	83.0	84.0					10																	135165915		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF421885	CCDS7679.1	10q26.3	2012-10-01			ENSG00000165828	ENSG00000165828			23304	protein-coding gene	gene with protein product		609776				14583459, 20674898	Standard	NM_001145201		Approved	UPA		Q96NZ9	OTTHUMG00000019312	ENST00000433452.2:c.427G>A	10.37:g.135165915G>A	ENSP00000416126:p.Asp143Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZL57|B7ZL58|E9KL31|Q5VWY4|Q7Z4X5|Q8IWR3|Q8NCS2	Missense_Mutation	SNP	smart_Znf_C2H2-like	p.D302N	ENST00000433452.2	37	c.904	CCDS7679.1	10	.	.	.	.	.	.	.	.	.	.	G	14.90	2.674358	0.47781	.	.	ENSG00000198546;ENSG00000165828;ENSG00000165828;ENSG00000165828	ENST00000368554;ENST00000433452;ENST00000423766;ENST00000458230	T;T;T;T	0.55052	0.54;0.89;0.89;0.93	3.37	3.37	0.38596	.	0.000000	0.38272	N	0.001742	T	0.64538	0.2607	L	0.54323	1.7	0.25723	N	0.985359	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.53968	-0.8363	10	0.87932	D	0	-32.1809	10.5575	0.45125	0.0:0.0:1.0:0.0	.	134;144;143	A6XND8;Q96NZ9-3;Q96NZ9	.;.;PRAP1_HUMAN	N	302;143;144;134	ENSP00000357542:D302N;ENSP00000416126:D143N;ENSP00000409495:D144N;ENSP00000402700:D134N	ENSP00000409495:D144N	D	+	1	0	ZNF511;PRAP1	135015905	0.208000	0.23494	0.765000	0.31456	0.033000	0.12548	2.455000	0.44988	2.197000	0.70478	0.643000	0.83706	GAC	ZNF511	-	NULL	ENSG00000198546		0.662	PRAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF511	HGNC	protein_coding	OTTHUMT00000051132.1	14	0.00	0	G	NM_145202		135165915	135165915	+1	no_errors	ENST00000368554	ensembl	human	known	69_37n	missense	11	26.67	4	SNP	0.991	A
ZNF521	25925	genome.wustl.edu	37	18	22804334	22804334	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr18:22804334C>T	ENST00000361524.3	-	4	3696	c.3548G>A	c.(3547-3549)aGa>aAa	p.R1183K	ZNF521_ENST00000538137.2_Missense_Mutation_p.R1183K|ZNF521_ENST00000584787.1_Missense_Mutation_p.R963K	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1183					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GGGACTGATTCTGGGCATTGG	0.483			T	PAX5	ALL																																	dbGAP		Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0													134.0	130.0	131.0					18																	22804334		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.3548G>A	18.37:g.22804334C>T	ENSP00000354794:p.Arg1183Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R1183K	ENST00000361524.3	37	c.3548	CCDS32806.1	18	.	.	.	.	.	.	.	.	.	.	C	14.69	2.611817	0.46631	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.08370	3.18;3.1	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.05181	0.0138	N	0.11560	0.145	0.41181	D	0.986238	B	0.26483	0.15	B	0.17722	0.019	T	0.23190	-1.0195	10	0.02654	T	1	-22.7267	20.4581	0.99154	0.0:1.0:0.0:0.0	.	1183	Q96K83	ZN521_HUMAN	K	1183;1217;1183	ENSP00000354794:R1183K;ENSP00000382352:R1183K	ENSP00000354794:R1183K	R	-	2	0	ZNF521	21058332	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.738000	0.68613	2.835000	0.97688	0.650000	0.86243	AGA	ZNF521	-	NULL	ENSG00000198795		0.483	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	ZNF521	HGNC	protein_coding	OTTHUMT00000446781.2	77	0.00	0	C	NM_015461		22804334	22804334	-1	no_errors	ENST00000361524	ensembl	human	known	69_37n	missense	51	29.17	21	SNP	1.000	T
ZNF521	25925	genome.wustl.edu	37	18	22805296	22805296	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr18:22805296C>T	ENST00000361524.3	-	4	2734	c.2586G>A	c.(2584-2586)ctG>ctA	p.L862L	ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000538137.2_Silent_p.L862L|ZNF521_ENST00000584787.1_Silent_p.L642L	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	862					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GGCTGTTGGTCAGCAAAGTCT	0.517			T	PAX5	ALL																																	dbGAP		Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0													177.0	168.0	171.0					18																	22805296		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.2586G>A	18.37:g.22805296C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L862	ENST00000361524.3	37	c.2586	CCDS32806.1	18																																																																																			ZNF521	-	NULL	ENSG00000198795		0.517	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	ZNF521	HGNC	protein_coding	OTTHUMT00000446781.2	202	0.00	0	C	NM_015461		22805296	22805296	-1	no_errors	ENST00000361524	ensembl	human	known	69_37n	silent	100	28.57	40	SNP	1.000	T
ZNF527	84503	genome.wustl.edu	37	19	37880509	37880509	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:37880509C>T	ENST00000436120.2	+	5	1665	c.1558C>T	c.(1558-1560)Cat>Tat	p.H520Y	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	520					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)			TAAGAGAAGTCATGCAGGAGA	0.393																																						dbGAP											0													91.0	100.0	97.0					19																	37880509		2195	4295	6490	-	-	-	SO:0001583	missense	0			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	ENST00000436120.2:c.1558C>T	19.37:g.37880509C>T	ENSP00000390179:p.His520Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DVL5	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.H520Y	ENST00000436120.2	37	c.1558	CCDS42559.1	19	.	.	.	.	.	.	.	.	.	.	C	20.6	4.025397	0.75390	.	.	ENSG00000189164	ENST00000356178;ENST00000317566;ENST00000436120	.	.	.	3.84	3.84	0.44239	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35320	N	0.003296	D	0.83613	0.5292	M	0.89214	3.015	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.996	D	0.87538	0.2457	9	0.87932	D	0	.	14.6945	0.69110	0.0:1.0:0.0:0.0	.	520;488	Q8NB42;Q8NB42-2	ZN527_HUMAN;.	Y	520;488;468	.	ENSP00000325231:H488Y	H	+	1	0	ZNF527	42572349	0.995000	0.38212	1.000000	0.80357	0.998000	0.95712	3.275000	0.51639	1.997000	0.58415	0.655000	0.94253	CAT	ZNF527	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000189164		0.393	ZNF527-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF527	HGNC	protein_coding	OTTHUMT00000458434.1	96	0.00	0	C	NM_032453		37880509	37880509	+1	no_errors	ENST00000436120	ensembl	human	known	69_37n	missense	30	49.15	29	SNP	1.000	T
ZNF526	116115	genome.wustl.edu	37	19	42730115	42730115	+	Silent	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:42730115G>T	ENST00000301215.3	+	3	1785	c.1560G>T	c.(1558-1560)ctG>ctT	p.L520L		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	520					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)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				GCCACCAGCTGACCCATACGG	0.622																																						dbGAP											0													68.0	65.0	66.0					19																	42730115		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB075831	CCDS12598.1	19q13.31	2013-01-08				ENSG00000167625		"""Zinc fingers, C2H2-type"""	29415	protein-coding gene	gene with protein product		614387				11853319	Standard	NM_133444		Approved	KIAA1951, MGC4267	uc002osz.1	Q8TF50		ENST00000301215.3:c.1560G>T	19.37:g.42730115G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KV29|Q69YI2|Q96E24	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L520	ENST00000301215.3	37	c.1560	CCDS12598.1	19																																																																																			ZNF526	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000167625		0.622	ZNF526-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF526	HGNC	protein_coding	OTTHUMT00000463681.2	23	0.00	0	G	XM_057401		42730115	42730115	+1	no_errors	ENST00000301215	ensembl	human	known	69_37n	silent	18	33.33	9	SNP	1.000	T
ZNF530	348327	genome.wustl.edu	37	19	58117499	58117499	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:58117499G>T	ENST00000332854.6	+	3	826	c.606G>T	c.(604-606)ttG>ttT	p.L202F	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	202					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(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TTAGACACTTGAGAGTTCCCA	0.483																																						dbGAP											0													89.0	92.0	91.0					19																	58117499		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK096831	CCDS12955.1	19q13.43	2013-01-08				ENSG00000183647		"""Zinc fingers, C2H2-type"", ""-"""	29297	protein-coding gene	gene with protein product						10819331	Standard	NM_020880		Approved	KIAA1508	uc002qpk.2	Q6P9A1		ENST00000332854.6:c.606G>T	19.37:g.58117499G>T	ENSP00000332861:p.Leu202Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	O43340|Q9P220	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.L202F	ENST00000332854.6	37	c.606	CCDS12955.1	19	.	.	.	.	.	.	.	.	.	.	G	1.153	-0.646012	0.03531	.	.	ENSG00000183647	ENST00000332854	T	0.16324	2.35	1.09	-2.18	0.07037	.	.	.	.	.	T	0.12135	0.0295	L	0.47716	1.5	0.09310	N	1	P	0.35959	0.53	B	0.36335	0.222	T	0.11767	-1.0574	9	0.52906	T	0.07	.	0.9323	0.01338	0.2543:0.385:0.1858:0.1749	.	202	Q6P9A1	ZN530_HUMAN	F	202	ENSP00000332861:L202F	ENSP00000332861:L202F	L	+	3	2	ZNF530	62809311	0.036000	0.19791	0.000000	0.03702	0.004000	0.04260	-0.248000	0.08854	-2.004000	0.00961	-1.241000	0.01538	TTG	ZNF530	-	NULL	ENSG00000183647		0.483	ZNF530-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF530	HGNC	protein_coding	OTTHUMT00000466797.1	41	0.00	0	G	NM_020880		58117499	58117499	+1	no_errors	ENST00000332854	ensembl	human	known	69_37n	missense	33	28.26	13	SNP	0.000	T
ZNF540	163255	genome.wustl.edu	37	19	38102639	38102639	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:38102639G>C	ENST00000592533.1	+	5	790	c.458G>C	c.(457-459)aGa>aCa	p.R153T	ZNF540_ENST00000589117.1_Missense_Mutation_p.R121T|ZNF540_ENST00000316433.4_Missense_Mutation_p.R153T|ZNF540_ENST00000343599.5_Missense_Mutation_p.R153T|ZNF540_ENST00000586792.1_3'UTR	NM_152606.4	NP_689819.1	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	153					negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCAACTGATAGAAAACGTCCC	0.363																																						dbGAP											0													81.0	86.0	84.0					19																	38102639		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL832315	CCDS12506.1, CCDS54258.1	19q13.13	2013-01-08				ENSG00000171817		"""Zinc fingers, C2H2-type"", ""-"""	25331	protein-coding gene	gene with protein product		613903					Standard	NM_152606		Approved	DKFZp547B0714	uc002ogq.4	Q8NDQ6		ENST00000592533.1:c.458G>C	19.37:g.38102639G>C	ENSP00000466274:p.Arg153Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVS5|A8K371|Q05D58|Q3LIC5|Q6ZN36|Q7Z3C8|Q86T31	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.R153T	ENST00000592533.1	37	c.458	CCDS12506.1	19	.	.	.	.	.	.	.	.	.	.	G	0.758	-0.770211	0.02974	.	.	ENSG00000171817	ENST00000316433;ENST00000343599	T	0.08546	3.08	1.97	-3.95	0.04118	.	.	.	.	.	T	0.03477	0.0100	N	0.17082	0.46	0.09310	N	1	B;B	0.22604	0.072;0.043	B;B	0.13407	0.009;0.004	T	0.46582	-0.9181	9	0.12103	T	0.63	.	4.1014	0.10015	0.5974:0.0:0.2312:0.1713	.	121;153	Q8NDQ6-2;Q8NDQ6	.;ZN540_HUMAN	T	153;121	ENSP00000324598:R153T	ENSP00000324598:R153T	R	+	2	0	ZNF540	42794479	0.000000	0.05858	0.000000	0.03702	0.125000	0.20455	0.014000	0.13333	-0.889000	0.03950	0.205000	0.17691	AGA	ZNF540	-	NULL	ENSG00000171817		0.363	ZNF540-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZNF540	HGNC	protein_coding	OTTHUMT00000459481.1	51	0.00	0	G	NM_152606		38102639	38102639	+1	no_errors	ENST00000316433	ensembl	human	known	69_37n	missense	41	21.15	11	SNP	0.000	C
ZNF534	147658	genome.wustl.edu	37	19	52938380	52938380	+	Missense_Mutation	SNP	G	G	C	rs192550160		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:52938380G>C	ENST00000332323.6	+	3	289	c.228G>C	c.(226-228)aaG>aaC	p.K76N	ZNF534_ENST00000433050.1_Missense_Mutation_p.K63N|ZNF534_ENST00000301085.4_Missense_Mutation_p.K63N|ZNF534_ENST00000432303.2_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	76	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)			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						TGGAGCAAAAGAGAGATCCCT	0.458																																						dbGAP											0													126.0	104.0	110.0					19																	52938380		1568	3582	5150	-	-	-	SO:0001583	missense	0			AK058073	CCDS46165.1, CCDS46166.1	19q13.41	2013-01-08	2004-02-06	2004-02-11	ENSG00000198633	ENSG00000198633		"""Zinc fingers, C2H2-type"", ""-"""	26337	protein-coding gene	gene with protein product			"""KRAB domain only 3"""	KRBO3			Standard	NM_001143938		Approved	FLJ25344	uc002pzk.3	Q76KX8	OTTHUMG00000156493	ENST00000332323.6:c.228G>C	19.37:g.52938380G>C	ENSP00000327538:p.Lys76Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q76KX9	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.K76N	ENST00000332323.6	37	c.228	CCDS46165.1	19	.	.	.	.	.	.	.	.	.	.	G	3.352	-0.132296	0.06753	.	.	ENSG00000198633	ENST00000301085;ENST00000332323;ENST00000433050;ENST00000391790	T;T;T	0.07444	5.63;3.19;3.28	1.67	0.511	0.16989	Krueppel-associated box (2);	.	.	.	.	T	0.03959	0.0111	N	0.11154	0.105	0.09310	N	1	B;B;B	0.19073	0.009;0.005;0.033	B;B;B	0.15870	0.001;0.006;0.014	T	0.43163	-0.9408	9	0.34782	T	0.22	.	4.4001	0.11383	0.248:0.0:0.752:0.0	.	63;76;63	Q76KX8-2;Q76KX8;Q1T7F5	.;ZN534_HUMAN;.	N	63;76;63;75	ENSP00000301085:K63N;ENSP00000327538:K76N;ENSP00000391358:K63N	ENSP00000301085:K63N	K	+	3	2	ZNF534	57630192	0.173000	0.23056	0.004000	0.12327	0.029000	0.11900	0.156000	0.16382	-0.006000	0.14370	0.411000	0.27672	AAG	ZNF534	-	smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000198633		0.458	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF534	HGNC	protein_coding	OTTHUMT00000460877.1	144	0.00	0	G	NM_182512		52938380	52938380	+1	no_errors	ENST00000332323	ensembl	human	known	69_37n	missense	105	25.00	35	SNP	0.003	C
ZNF543	125919	genome.wustl.edu	37	19	57839857	57839857	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:57839857G>C	ENST00000321545.4	+	4	1372	c.1027G>C	c.(1027-1029)Gag>Cag	p.E343Q		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	343					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(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGAGTGCATTGAGTGTGGGAA	0.502																																						dbGAP											0													75.0	74.0	75.0					19																	57839857		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL834534	CCDS33130.1	19q13.43	2013-01-08				ENSG00000178229		"""Zinc fingers, C2H2-type"", ""-"""	25281	protein-coding gene	gene with protein product							Standard	NM_213598		Approved	DKFZp434H055	uc002qoi.2	Q08ER8		ENST00000321545.4:c.1027G>C	19.37:g.57839857G>C	ENSP00000322545:p.Glu343Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q495U9|Q495V0|Q6ZMP4|Q8NCX4	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.E343Q	ENST00000321545.4	37	c.1027	CCDS33130.1	19	.	.	.	.	.	.	.	.	.	.	G	12.41	1.929711	0.34096	.	.	ENSG00000178229	ENST00000321545	T	0.18502	2.21	3.0	1.92	0.25849	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21307	0.0513	L	0.33485	1.01	0.22827	N	0.998685	P	0.47762	0.9	P	0.53760	0.734	T	0.11991	-1.0565	9	0.36615	T	0.2	.	10.3266	0.43796	0.0:0.0:0.8012:0.1988	.	343	Q08ER8	ZN543_HUMAN	Q	343	ENSP00000322545:E343Q	ENSP00000322545:E343Q	E	+	1	0	ZNF543	62531669	0.002000	0.14202	0.357000	0.25798	0.008000	0.06430	0.882000	0.28186	0.551000	0.29008	0.561000	0.74099	GAG	ZNF543	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000178229		0.502	ZNF543-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF543	HGNC	protein_coding	OTTHUMT00000465780.1	104	0.00	0	G	XM_064865		57839857	57839857	+1	no_errors	ENST00000321545	ensembl	human	known	69_37n	missense	44	27.87	17	SNP	0.917	C
ZNF530	348327	genome.wustl.edu	37	19	58117788	58117788	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:58117788G>A	ENST00000332854.6	+	3	1115	c.895G>A	c.(895-897)Gaa>Aaa	p.E299K	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	299					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(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGACTGCAGTGAATGTGGCAA	0.433																																						dbGAP											0													108.0	89.0	96.0					19																	58117788		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK096831	CCDS12955.1	19q13.43	2013-01-08				ENSG00000183647		"""Zinc fingers, C2H2-type"", ""-"""	29297	protein-coding gene	gene with protein product						10819331	Standard	NM_020880		Approved	KIAA1508	uc002qpk.2	Q6P9A1		ENST00000332854.6:c.895G>A	19.37:g.58117788G>A	ENSP00000332861:p.Glu299Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O43340|Q9P220	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.E299K	ENST00000332854.6	37	c.895	CCDS12955.1	19	.	.	.	.	.	.	.	.	.	.	G	12.08	1.831792	0.32421	.	.	ENSG00000183647	ENST00000332854	T	0.07327	3.2	2.03	0.715	0.18186	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10723	0.0262	N	0.19112	0.55	0.09310	N	1	P	0.46952	0.887	P	0.55055	0.767	T	0.33445	-0.9868	9	0.51188	T	0.08	.	9.5328	0.39205	0.0:0.2184:0.7816:0.0	.	299	Q6P9A1	ZN530_HUMAN	K	299	ENSP00000332861:E299K	ENSP00000332861:E299K	E	+	1	0	ZNF530	62809600	0.000000	0.05858	0.011000	0.14972	0.028000	0.11728	0.526000	0.22971	1.137000	0.42214	0.603000	0.83216	GAA	ZNF530	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000183647		0.433	ZNF530-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF530	HGNC	protein_coding	OTTHUMT00000466797.1	80	0.00	0	G	NM_020880		58117788	58117788	+1	no_errors	ENST00000332854	ensembl	human	known	69_37n	missense	47	38.16	29	SNP	0.006	A
ZNF555	148254	genome.wustl.edu	37	19	2852869	2852869	+	Nonsense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:2852869C>G	ENST00000334241.4	+	4	944	c.806C>G	c.(805-807)tCa>tGa	p.S269*	AC006130.3_ENST00000589365.1_RNA|ZNF555_ENST00000591539.1_Nonsense_Mutation_p.S268*	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	269					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(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				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)		AGTTATTCCTCAACGTTTCGA	0.408																																						dbGAP											0													72.0	64.0	66.0					19																	2852869		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AL832140	CCDS12096.1, CCDS59329.1	19p13.3	2013-09-20			ENSG00000186300	ENSG00000186300		"""Zinc fingers, C2H2-type"", ""-"""	28382	protein-coding gene	gene with protein product						12477932	Standard	NM_152791		Approved	MGC26707	uc002lwo.3	Q8NEP9	OTTHUMG00000180500	ENST00000334241.4:c.806C>G	19.37:g.2852869C>G	ENSP00000334853:p.Ser269*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KA89|K7EQM2|Q8NA46|Q96MP1	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.S269*	ENST00000334241.4	37	c.806	CCDS12096.1	19	.	.	.	.	.	.	.	.	.	.	C	29.2	4.985293	0.93044	.	.	ENSG00000186300	ENST00000334241;ENST00000382127	.	.	.	3.06	-1.05	0.10036	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	3.4012	0.07324	0.0:0.3098:0.2154:0.4748	.	.	.	.	X	269;268	.	ENSP00000334853:S269X	S	+	2	0	ZNF555	2803869	0.000000	0.05858	0.046000	0.18839	0.991000	0.79684	0.318000	0.19504	0.085000	0.17107	0.561000	0.74099	TCA	ZNF555	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000186300		0.408	ZNF555-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF555	HGNC	protein_coding	OTTHUMT00000451637.3	58	0.00	0	C	NM_152791		2852869	2852869	+1	no_errors	ENST00000334241	ensembl	human	known	69_37n	nonsense	42	31.15	19	SNP	0.000	G
ZNF563	147837	genome.wustl.edu	37	19	12432120	12432120	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:12432120C>T	ENST00000293725.5	-	3	362	c.157G>A	c.(157-159)Gaa>Aaa	p.E53K	ZNF563_ENST00000595977.1_Missense_Mutation_p.E53K	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	53	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)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TACTGATCTTCAGTATTCTGT	0.303																																					GBM(39;623 795 5132 29510 31476)	dbGAP											0													74.0	67.0	69.0					19																	12432120		2200	4300	6500	-	-	-	SO:0001583	missense	0			BC022523	CCDS12270.1	19p13.2	2013-09-20			ENSG00000188868	ENSG00000188868		"""Zinc fingers, C2H2-type"", ""-"""	30498	protein-coding gene	gene with protein product							Standard	NM_145276		Approved	FLJ34797	uc002mtp.3	Q8TA94	OTTHUMG00000156413	ENST00000293725.5:c.157G>A	19.37:g.12432120C>T	ENSP00000293725:p.Glu53Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9E7|Q8NAT7	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.E53K	ENST00000293725.5	37	c.157	CCDS12270.1	19	.	.	.	.	.	.	.	.	.	.	C	10.81	1.456018	0.26161	.	.	ENSG00000188868	ENST00000293725;ENST00000318168	T	0.00856	5.61	0.715	0.715	0.18186	Krueppel-associated box (3);	.	.	.	.	T	0.02012	0.0063	L	0.44542	1.39	0.09310	N	1	D;P	0.61697	0.99;0.917	P;B	0.59487	0.858;0.37	T	0.53816	-0.8385	8	0.22706	T	0.39	.	.	.	.	.	53;53	Q8TA94-2;Q8TA94	.;ZN563_HUMAN	K	53	ENSP00000293725:E53K	ENSP00000293725:E53K	E	-	1	0	ZNF563	12293120	0.083000	0.21467	0.056000	0.19401	0.037000	0.13140	1.888000	0.39708	0.660000	0.30964	0.305000	0.20034	GAA	ZNF563	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000188868		0.303	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF563	HGNC	protein_coding	OTTHUMT00000344114.1	167	0.00	0	C	NM_145276		12432120	12432120	-1	no_errors	ENST00000293725	ensembl	human	known	69_37n	missense	113	20.98	30	SNP	0.230	T
ZNF564	163050	genome.wustl.edu	37	19	12637884	12637884	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:12637884G>T	ENST00000339282.7	-	4	1234	c.1038C>A	c.(1036-1038)ttC>ttA	p.F346L	CTD-2192J16.20_ENST00000593682.1_3'UTR|ZNF709_ENST00000428311.1_Intron|CTD-2192J16.21_ENST00000601420.1_RNA	NM_144976.3	NP_659413.1	Q8TBZ8	ZN564_HUMAN	zinc finger protein 564	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)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						TGGAAGAACTGAAGGTTTTAC	0.413																																						dbGAP											0													71.0	77.0	75.0					19																	12637884		2199	4296	6495	-	-	-	SO:0001583	missense	0			BC028367	CCDS42505.1	19p13.2	2013-09-19			ENSG00000249709	ENSG00000249709		"""Zinc fingers, C2H2-type"", ""-"""	31106	protein-coding gene	gene with protein product							Standard	NM_144976		Approved	MGC26914		Q8TBZ8	OTTHUMG00000156418	ENST00000339282.7:c.1038C>A	19.37:g.12637884G>T	ENSP00000340004:p.Phe346Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGT4|Q6P1K6	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.F346L	ENST00000339282.7	37	c.1038	CCDS42505.1	19	.	.	.	.	.	.	.	.	.	.	G	16.23	3.063694	0.55432	.	.	ENSG00000249709	ENST00000339282	T	0.46063	0.88	1.71	1.71	0.24356	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.56992	0.2023	M	0.87328	2.875	0.80722	D	1	D	0.61080	0.989	P	0.56042	0.79	T	0.62234	-0.6897	9	0.72032	D	0.01	.	6.9137	0.24347	0.0:0.0:1.0:0.0	.	346	Q8TBZ8	ZN564_HUMAN	L	346	ENSP00000340004:F346L	ENSP00000340004:F346L	F	-	3	2	ZNF564	12498884	0.109000	0.22037	0.073000	0.20177	0.993000	0.82548	0.221000	0.17680	1.287000	0.44583	0.643000	0.83706	TTC	ZNF564	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000249709		0.413	ZNF564-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF564	HGNC	protein_coding	OTTHUMT00000344120.2	65	0.00	0	G	NM_144976		12637884	12637884	-1	no_errors	ENST00000339282	ensembl	human	known	69_37n	missense	33	50.75	34	SNP	0.968	T
ZNF564	163050	genome.wustl.edu	37	19	12639152	12639152	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:12639152C>A	ENST00000339282.7	-	3	353	c.157G>T	c.(157-159)Gaa>Taa	p.E53*	CTD-2192J16.20_ENST00000593682.1_3'UTR|ZNF709_ENST00000428311.1_Intron|CTD-2192J16.21_ENST00000601420.1_RNA	NM_144976.3	NP_659413.1	Q8TBZ8	ZN564_HUMAN	zinc finger protein 564	53	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)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						TACCAATCTTCAATGCTCTGG	0.303																																						dbGAP											0													86.0	83.0	84.0					19																	12639152		1829	4074	5903	-	-	-	SO:0001587	stop_gained	0			BC028367	CCDS42505.1	19p13.2	2013-09-19			ENSG00000249709	ENSG00000249709		"""Zinc fingers, C2H2-type"", ""-"""	31106	protein-coding gene	gene with protein product							Standard	NM_144976		Approved	MGC26914		Q8TBZ8	OTTHUMG00000156418	ENST00000339282.7:c.157G>T	19.37:g.12639152C>A	ENSP00000340004:p.Glu53*	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGT4|Q6P1K6	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.E53*	ENST00000339282.7	37	c.157	CCDS42505.1	19	.	.	.	.	.	.	.	.	.	.	C	23.9	4.467375	0.84533	.	.	ENSG00000249709	ENST00000339282	.	.	.	2.0	2.0	0.26442	.	.	.	.	.	.	.	.	.	.	.	0.18873	N	0.999987	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	7.4385	0.27169	0.0:1.0:0.0:0.0	.	.	.	.	X	53	.	ENSP00000340004:E53X	E	-	1	0	ZNF564	12500152	0.057000	0.20700	0.169000	0.22859	0.849000	0.48306	0.530000	0.23036	1.134000	0.42165	0.448000	0.29417	GAA	ZNF564	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000249709		0.303	ZNF564-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF564	HGNC	protein_coding	OTTHUMT00000344120.2	146	0.00	0	C	NM_144976		12639152	12639152	-1	no_errors	ENST00000339282	ensembl	human	known	69_37n	nonsense	86	18.87	20	SNP	0.228	A
ZNF570	148268	genome.wustl.edu	37	19	37975205	37975205	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:37975205C>T	ENST00000330173.1	+	5	1210	c.681C>T	c.(679-681)ttC>ttT	p.F227F	ZNF570_ENST00000586475.1_Silent_p.F283F|ZNF570_ENST00000388801.3_Silent_p.F24F	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	227					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(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAAAAGTCTTCAGCCAGAGTT	0.363																																						dbGAP											0													109.0	127.0	121.0					19																	37975205		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AK055353	CCDS12504.1, CCDS74355.1	19q13.12	2013-09-20			ENSG00000171827	ENSG00000171827		"""Zinc fingers, C2H2-type"", ""-"""	26416	protein-coding gene	gene with protein product							Standard	XM_005258567		Approved	FLJ30791	uc002ogk.1	Q96NI8	OTTHUMG00000048176	ENST00000330173.1:c.681C>T	19.37:g.37975205C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L472|B4DMP1	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.F227	ENST00000330173.1	37	c.681	CCDS12504.1	19																																																																																			ZNF570	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000171827		0.363	ZNF570-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF570	HGNC	protein_coding	OTTHUMT00000109600.1	57	0.00	0	C	NM_144694		37975205	37975205	+1	no_errors	ENST00000330173	ensembl	human	known	69_37n	silent	18	21.74	5	SNP	0.967	T
ZNF546	339327	genome.wustl.edu	37	19	40521389	40521389	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:40521389C>G	ENST00000347077.4	+	7	2428	c.2212C>G	c.(2212-2214)Caa>Gaa	p.Q738E	ZNF546_ENST00000600094.1_Missense_Mutation_p.Q712E|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	738					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)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCATCTTACTCAACATTTTAG	0.383																																						dbGAP											0													96.0	92.0	94.0					19																	40521389		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187		"""Zinc fingers, C2H2-type"", ""-"""	28671	protein-coding gene	gene with protein product				ZNF49		12477932	Standard	XM_005258853		Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.2212C>G	19.37:g.40521389C>G	ENSP00000339823:p.Gln738Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K913	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.Q738E	ENST00000347077.4	37	c.2212	CCDS12548.1	19	.	.	.	.	.	.	.	.	.	.	c	0.017	-1.489390	0.01018	.	.	ENSG00000187187	ENST00000347077;ENST00000392042	T	0.06608	3.28	2.91	1.43	0.22495	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03608	0.0103	N	0.17564	0.495	0.09310	N	1	B	0.15473	0.013	B	0.20577	0.03	T	0.44097	-0.9350	9	0.02654	T	1	.	10.0193	0.42033	0.0:0.4016:0.5984:0.0	.	738	Q86UE3	ZN546_HUMAN	E	738;347	ENSP00000339823:Q738E	ENSP00000339823:Q738E	Q	+	1	0	ZNF546	45213229	0.000000	0.05858	0.764000	0.31436	0.989000	0.77384	-2.605000	0.00889	0.501000	0.28013	0.591000	0.81541	CAA	ZNF546	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000187187		0.383	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF546	HGNC	protein_coding	OTTHUMT00000462495.2	68	0.00	0	C	NM_178544		40521389	40521389	+1	no_errors	ENST00000347077	ensembl	human	known	69_37n	missense	55	17.91	12	SNP	0.001	G
ZNF548	147694	genome.wustl.edu	37	19	57910564	57910564	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:57910564C>T	ENST00000366197.5	+	3	1159	c.909C>T	c.(907-909)caC>caT	p.H303H	AC003002.6_ENST00000600421.1_Intron|AC004076.7_ENST00000597410.1_Intron|ZNF548_ENST00000336128.7_Silent_p.H315H|AC003002.6_ENST00000596400.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	303					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(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGAGAGTTCACACCGGAGAAA	0.458																																						dbGAP											0													73.0	75.0	74.0					19																	57910564		2200	4300	6500	-	-	-	SO:0001819	synonymous_variant	0			AK057494	CCDS46209.1, CCDS54324.1	19q13.43	2013-01-08				ENSG00000188785		"""Zinc fingers, C2H2-type"", ""-"""	26561	protein-coding gene	gene with protein product						12477932	Standard	NM_152909		Approved	FLJ32932	uc002qon.3	Q8NEK5		ENST00000366197.5:c.909C>T	19.37:g.57910564C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96M05	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.H315	ENST00000366197.5	37	c.945	CCDS46209.1	19																																																																																			ZNF548	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000188785		0.458	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF548	HGNC	protein_coding	OTTHUMT00000465937.1	99	0.00	0	C	NM_152909		57910564	57910564	+1	no_errors	ENST00000336128	ensembl	human	known	69_37n	silent	65	17.72	14	SNP	1.000	T
ZNF551	90233	genome.wustl.edu	37	19	58199645	58199645	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:58199645G>C	ENST00000282296.5	+	3	2187	c.2002G>C	c.(2002-2004)Gaa>Caa	p.E668Q	AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000596085.1_Intron|AC003006.7_ENST00000599221.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.E652Q			Q7Z340	ZN551_HUMAN	zinc finger protein 551	668					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(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TCACACTGAAGAAAGGCCTTA	0.408																																						dbGAP											0													77.0	75.0	76.0					19																	58199645		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX538151	CCDS12959.1, CCDS12959.2	19q13.43	2013-09-20			ENSG00000204519	ENSG00000204519		"""Zinc fingers, C2H2-type"", ""-"""	25108	protein-coding gene	gene with protein product							Standard	NM_138347		Approved	DKFZp686H1038	uc002qpw.5	Q7Z340	OTTHUMG00000183470	ENST00000282296.5:c.2002G>C	19.37:g.58199645G>C	ENSP00000282296:p.Glu668Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DU22|P17034|Q8N246|Q9BRY1	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.E668Q	ENST00000282296.5	37	c.2002	CCDS12959.2	19	.	.	.	.	.	.	.	.	.	.	G	16.32	3.090774	0.55968	.	.	ENSG00000204519	ENST00000356715;ENST00000282296	.	.	.	2.56	1.47	0.22746	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.64472	0.2601	M	0.78344	2.41	0.25093	N	0.990843	D	0.65815	0.995	D	0.64595	0.927	T	0.54390	-0.8301	8	0.59425	D	0.04	.	10.328	0.43805	0.0:0.2026:0.7974:0.0	.	668	Q7Z340	ZN551_HUMAN	Q	668;652	.	ENSP00000282296:E652Q	E	+	1	0	ZNF551	62891457	0.000000	0.05858	0.036000	0.18154	0.075000	0.17131	0.067000	0.14510	0.394000	0.25230	0.563000	0.77884	GAA	ZNF551	-	pfscan_Znf_C2H2	ENSG00000204519		0.408	ZNF551-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF551	HGNC	protein_coding	OTTHUMT00000466803.2	55	0.00	0	G	NM_138347		58199645	58199645	+1	no_errors	ENST00000356715	ensembl	human	known	69_37n	missense	36	20.00	9	SNP	0.999	C
ZNF587	84914	genome.wustl.edu	37	19	58371049	58371049	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:58371049C>T	ENST00000339656.5	+	3	1451	c.1269C>T	c.(1267-1269)ctC>ctT	p.L423L	ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF587_ENST00000419854.1_Silent_p.L380L|ZNF587_ENST00000423137.1_Silent_p.L422L|ZNF814_ENST00000597652.1_5'Flank|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	423					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(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		GATCCCACCTCACTGAACACC	0.453																																					Pancreas(59;641 1233 1885 20055 50741)	dbGAP											0													73.0	73.0	73.0					19																	58371049		2202	4280	6482	-	-	-	SO:0001819	synonymous_variant	0			AF294842	CCDS12964.1, CCDS56110.1	19q13.43	2013-01-08				ENSG00000198466		"""Zinc fingers, C2H2-type"", ""-"""	30955	protein-coding gene	gene with protein product						10520746	Standard	NM_032828		Approved	ZF6, FLJ14710, UBF-fl, FLJ20813	uc002qql.3	Q96SQ5	OTTHUMG00000154901	ENST00000339656.5:c.1269C>T	19.37:g.58371049C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV72|G3V0H5|Q6ZMK8	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.L423	ENST00000339656.5	37	c.1269	CCDS12964.1	19																																																																																			ZNF587	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198466		0.453	ZNF587-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF587	HGNC	protein_coding	OTTHUMT00000337594.2	132	0.00	0	C	NM_032828		58371049	58371049	+1	no_errors	ENST00000339656	ensembl	human	known	69_37n	silent	79	43.57	61	SNP	0.000	T
ZNF544	27300	genome.wustl.edu	37	19	58772873	58772873	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:58772873G>A	ENST00000596652.1	+	6	1135	c.901G>A	c.(901-903)Gat>Aat	p.D301N	ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000600044.1_Missense_Mutation_p.D273N|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000415203.2_Missense_Mutation_p.D273N|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000269829.4_Missense_Mutation_p.D301N|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000600220.1_Missense_Mutation_p.D273N|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000599953.1_Missense_Mutation_p.D159N|ZNF544_ENST00000599227.1_3'UTR			Q6NX49	ZN544_HUMAN	zinc finger protein 544	301					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		GTATGAGTGTGATGAGTGCAG	0.473																																						dbGAP											0													70.0	66.0	68.0					19																	58772873		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF020591	CCDS12973.1	19q13.43	2013-01-08				ENSG00000198131		"""Zinc fingers, C2H2-type"", ""-"""	16759	protein-coding gene	gene with protein product	"""zinc finger protein AF020591"""						Standard	NM_014480		Approved	AF020591	uc010euo.3	Q6NX49		ENST00000596652.1:c.901G>A	19.37:g.58772873G>A	ENSP00000469635:p.Asp301Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6J1|Q9UEX4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.D301N	ENST00000596652.1	37	c.901	CCDS12973.1	19	.	.	.	.	.	.	.	.	.	.	G	9.242	1.038564	0.19669	.	.	ENSG00000198131	ENST00000269829;ENST00000415203	T;T	0.15017	2.46;2.46	3.52	1.38	0.22167	.	.	.	.	.	T	0.04363	0.0120	N	0.01631	-0.79	0.09310	N	1	P;B;B	0.51791	0.948;0.001;0.003	B;B;B	0.43783	0.431;0.001;0.0	T	0.10132	-1.0643	9	0.02654	T	1	.	2.7196	0.05197	0.2494:0.0:0.5237:0.2268	.	273;273;301	B7ZAY1;B4DL50;Q6NX49	.;.;ZN544_HUMAN	N	301;273	ENSP00000269829:D301N;ENSP00000394341:D273N	ENSP00000269829:D301N	D	+	1	0	ZNF544	63464685	0.000000	0.05858	0.311000	0.25182	0.098000	0.18820	-0.651000	0.05372	0.816000	0.34421	0.655000	0.94253	GAT	ZNF544	-	NULL	ENSG00000198131		0.473	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF544	HGNC	protein_coding	OTTHUMT00000466754.1	42	0.00	0	G	NM_014480		58772873	58772873	+1	no_errors	ENST00000269829	ensembl	human	known	69_37n	missense	44	29.03	18	SNP	0.007	A
ZNF592	9640	genome.wustl.edu	37	15	85326738	85326738	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:85326738C>T	ENST00000560079.2	+	4	1120	c.832C>T	c.(832-834)Cat>Tat	p.H278Y	ZNF592_ENST00000299927.3_Missense_Mutation_p.H278Y	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	278					cell death (GO:0008219)|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(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AAAGCCAGCTCATTCCAAGCT	0.562																																						dbGAP											0													71.0	73.0	72.0					15																	85326738		2203	4299	6502	-	-	-	SO:0001583	missense	0			D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"""Zinc fingers, C2H2-type"""	28986	protein-coding gene	gene with protein product		613624	"""spinocerebellar ataxia, autosomal recessive 5"""	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.832C>T	15.37:g.85326738C>T	ENSP00000452877:p.His278Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M1T2|Q504Y9	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H278Y	ENST00000560079.2	37	c.832	CCDS32317.1	15	.	.	.	.	.	.	.	.	.	.	C	16.52	3.145659	0.57044	.	.	ENSG00000166716	ENST00000299927	T	0.00623	6.15	5.87	5.87	0.94306	.	0.102840	0.64402	D	0.000003	T	0.02230	0.0069	L	0.50333	1.59	0.40455	D	0.98018	D	0.71674	0.998	P	0.59115	0.852	T	0.63550	-0.6612	10	0.62326	D	0.03	-9.2273	17.713	0.88327	0.0:1.0:0.0:0.0	.	278	Q92610	ZN592_HUMAN	Y	278	ENSP00000299927:H278Y	ENSP00000299927:H278Y	H	+	1	0	ZNF592	83127742	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	3.616000	0.54174	2.780000	0.95670	0.655000	0.94253	CAT	ZNF592	-	NULL	ENSG00000166716		0.562	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF592	HGNC	protein_coding	OTTHUMT00000418779.2	26	0.00	0	C	NM_014630		85326738	85326738	+1	no_errors	ENST00000299927	ensembl	human	known	69_37n	missense	32	23.81	10	SNP	0.999	T
ZNF595	152687	genome.wustl.edu	37	4	86956	86956	+	3'UTR	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:86956C>G	ENST00000339368.6	+	0	1765							Q8IYB9	ZN595_HUMAN	zinc finger protein 595						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(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		AACCAATCCTCAGGCCTTATT	0.393																																						dbGAP											0													63.0	70.0	68.0					4																	86956		2083	4257	6340	-	-	-	SO:0001624	3_prime_UTR_variant	0			BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602		"""Zinc fingers, C2H2-type"", ""-"""	27196	protein-coding gene	gene with protein product						12477932	Standard	NM_182524		Approved	FLJ31740		Q8IYB9		ENST00000339368.6:c.*1762C>G	4.37:g.86956C>G		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000339368.6	37	NULL		4																																																																																			ZNF595	-	-	ENSG00000197701		0.393	ZNF595-001	KNOWN	basic	processed_transcript	ZNF595	HGNC	protein_coding	OTTHUMT00000357814.2	60	0.00	0	C	NM_182524		86956	86956	+1	no_errors	ENST00000339368	ensembl	human	known	69_37n	rna	49	20.97	13	SNP	0.005	G
ZNF595	152687	genome.wustl.edu	37	4	87051	87051	+	3'UTR	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:87051G>A	ENST00000339368.6	+	0	1860							Q8IYB9	ZN595_HUMAN	zinc finger protein 595						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(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		AGCCCTGAATGAACATAAGAA	0.378																																						dbGAP											0													48.0	54.0	52.0					4																	87051		2095	4241	6336	-	-	-	SO:0001624	3_prime_UTR_variant	0			BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602		"""Zinc fingers, C2H2-type"", ""-"""	27196	protein-coding gene	gene with protein product						12477932	Standard	NM_182524		Approved	FLJ31740		Q8IYB9		ENST00000339368.6:c.*1857G>A	4.37:g.87051G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000339368.6	37	NULL		4																																																																																			ZNF595	-	-	ENSG00000197701		0.378	ZNF595-001	KNOWN	basic	processed_transcript	ZNF595	HGNC	protein_coding	OTTHUMT00000357814.2	37	0.00	0	G	NM_182524		87051	87051	+1	no_errors	ENST00000339368	ensembl	human	known	69_37n	rna	44	20.00	11	SNP	0.002	A
ZNF606	80095	genome.wustl.edu	37	19	58490439	58490439	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:58490439C>G	ENST00000341164.4	-	7	2229	c.1609G>C	c.(1609-1611)Gag>Cag	p.E537Q	ZNF606_ENST00000536132.1_Missense_Mutation_p.E447Q	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	537					regulation of transcription, DNA-templated (GO:0006355)|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)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		AAGGGTTTCTCTCCAGTATGC	0.393																																						dbGAP											0													56.0	57.0	56.0					19																	58490439		2202	4300	6502	-	-	-	SO:0001583	missense	0			AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"""Zinc fingers, C2H2-type"", ""-"""	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.1609G>C	19.37:g.58490439C>G	ENSP00000343617:p.Glu537Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAN2|Q8NE04|Q96JH5	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.E537Q	ENST00000341164.4	37	c.1609	CCDS12968.1	19	.	.	.	.	.	.	.	.	.	.	C	15.86	2.956485	0.53293	.	.	ENSG00000166704	ENST00000341164;ENST00000536132	T;T	0.25912	1.77;1.77	4.71	4.71	0.59529	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.48767	D	0.000166	T	0.42337	0.1198	L	0.37697	1.125	0.54753	D	0.999988	D	0.89917	1.0	D	0.83275	0.996	T	0.30031	-0.9992	10	0.62326	D	0.03	.	16.9221	0.86166	0.0:1.0:0.0:0.0	.	537	Q8WXB4	ZN606_HUMAN	Q	537;447	ENSP00000343617:E537Q;ENSP00000445624:E447Q	ENSP00000343617:E537Q	E	-	1	0	ZNF606	63182251	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.530000	0.60595	2.597000	0.87782	0.561000	0.74099	GAG	ZNF606	-	pfscan_Znf_C2H2	ENSG00000166704		0.393	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF606	HGNC	protein_coding	OTTHUMT00000405961.1	79	0.00	0	C	NM_025027		58490439	58490439	-1	no_errors	ENST00000341164	ensembl	human	known	69_37n	missense	56	25.33	19	SNP	1.000	G
ZNF608	57507	genome.wustl.edu	37	5	123974839	123974839	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr5:123974839G>C	ENST00000306315.5	-	8	4954	c.4519C>G	c.(4519-4521)Cct>Gct	p.P1507A	ZNF608_ENST00000504926.1_Missense_Mutation_p.P1080A|ZNF608_ENST00000513985.1_5'UTR	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1507							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		CTTTGTCCAGGAAACATTCCA	0.418																																						dbGAP											0													63.0	67.0	66.0					5																	123974839		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.4519C>G	5.37:g.123974839G>C	ENSP00000307746:p.Pro1507Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	NULL	p.P1507A	ENST00000306315.5	37	c.4519	CCDS34219.1	5	.	.	.	.	.	.	.	.	.	.	G	23.1	4.377860	0.82682	.	.	ENSG00000168916	ENST00000504926;ENST00000306315	T;T	0.57107	0.44;0.42	5.84	5.84	0.93424	.	0.121454	0.56097	D	0.000026	T	0.74176	0.3682	M	0.69823	2.125	0.51482	D	0.99992	D	0.76494	0.999	D	0.83275	0.996	T	0.74544	-0.3630	10	0.87932	D	0	-15.8044	20.5224	0.99228	0.0:0.0:1.0:0.0	.	1507	Q9ULD9	ZN608_HUMAN	A	1080;1507	ENSP00000427657:P1080A;ENSP00000307746:P1507A	ENSP00000307746:P1507A	P	-	1	0	ZNF608	124002738	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.093000	0.76937	2.927000	0.99377	0.637000	0.83480	CCT	ZNF608	-	NULL	ENSG00000168916		0.418	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF608	HGNC	protein_coding	OTTHUMT00000371300.1	74	0.00	0	G	XM_114432		123974839	123974839	-1	no_errors	ENST00000306315	ensembl	human	known	69_37n	missense	64	24.71	21	SNP	1.000	C
ZNF613	79898	genome.wustl.edu	37	19	52448792	52448792	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:52448792G>A	ENST00000293471.6	+	6	2335	c.1656G>A	c.(1654-1656)gaG>gaA	p.E552E	ZNF613_ENST00000601794.1_Intron|ZNF613_ENST00000391794.4_Silent_p.E516E	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	552					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(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		CTTGCTCAGAGAGTCATAGCT	0.423																																						dbGAP											0													107.0	86.0	93.0					19																	52448792		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	25827	protein-coding gene	gene with protein product						12477932	Standard	NM_001031721		Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.1656G>A	19.37:g.52448792G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96SS9	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.E552	ENST00000293471.6	37	c.1656	CCDS33089.1	19																																																																																			ZNF613	-	NULL	ENSG00000176024		0.423	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF613	HGNC	protein_coding	OTTHUMT00000461104.2	52	0.00	0	G	NM_024840		52448792	52448792	+1	no_errors	ENST00000293471	ensembl	human	known	69_37n	silent	33	34.00	17	SNP	0.000	A
ZNF619	285267	genome.wustl.edu	37	3	40528997	40528997	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:40528997C>T	ENST00000314686.5	+	6	1353	c.948C>T	c.(946-948)atC>atT	p.I316I	ZNF619_ENST00000429348.2_Silent_p.I332I|ZNF619_ENST00000522736.1_Silent_p.I323I|ZNF619_ENST00000447116.2_Silent_p.I372I|ZNF619_ENST00000456778.1_Silent_p.I288I|ZNF619_ENST00000432264.2_Silent_p.I332I|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000521353.1_Silent_p.I372I			Q8N2I2	ZN619_HUMAN	zinc finger protein 619	316					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(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		ATGACTGCATCATCCATGAAC	0.418																																						dbGAP											0													79.0	80.0	80.0					3																	40528997		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK075245	CCDS46801.1, CCDS46802.1, CCDS46803.1	3p21.33	2013-01-08			ENSG00000177873	ENSG00000177873		"""Zinc fingers, C2H2-type"", ""-"""	26910	protein-coding gene	gene with protein product							Standard	NM_001145083		Approved	FLJ90764	uc011azb.2	Q8N2I2	OTTHUMG00000131391	ENST00000314686.5:c.948C>T	3.37:g.40528997C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E271|C9JRN5|D4PHA2|E9PCD9	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.I372	ENST00000314686.5	37	c.1116		3																																																																																			ZNF619	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000177873		0.418	ZNF619-001	KNOWN	basic	protein_coding	ZNF619	HGNC	protein_coding	OTTHUMT00000254180.2	73	0.00	0	C	NM_173656		40528997	40528997	+1	no_errors	ENST00000447116	ensembl	human	known	69_37n	silent	49	53.33	56	SNP	0.057	T
ZNF623	9831	genome.wustl.edu	37	8	144733536	144733536	+	Silent	SNP	A	A	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:144733536A>C	ENST00000501748.2	+	1	1583	c.1494A>C	c.(1492-1494)tcA>tcC	p.S498S	ZNF623_ENST00000458270.2_Silent_p.S458S|ZNF623_ENST00000526926.1_Silent_p.S458S	NM_014789.3	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623	498					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(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			ATTTTAACTCAACTACAAACG	0.413																																						dbGAP											0													79.0	79.0	79.0					8																	144733536		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB014528	CCDS34957.1, CCDS47931.1	8q24.3	2013-01-08				ENSG00000183309		"""Zinc fingers, C2H2-type"""	29084	protein-coding gene	gene with protein product						9734811	Standard	NM_014789		Approved	KIAA0628	uc003yzd.2	O75123		ENST00000501748.2:c.1494A>C	8.37:g.144733536A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A4FU80|B4DGP3|E7ENV5	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S498	ENST00000501748.2	37	c.1494	CCDS34957.1	8	.	.	.	.	.	.	.	.	.	.	A	6.093	0.385421	0.11524	.	.	ENSG00000183309	ENST00000328466	.	.	.	4.3	-6.85	0.01681	.	.	.	.	.	T	0.23727	0.0574	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.39800	-0.9596	5	0.62326	D	0.03	0.4506	1.416	0.02302	0.235:0.1343:0.3674:0.2634	.	.	.	.	P	458	.	ENSP00000330358:Q458P	Q	+	2	0	ZNF623	144804679	0.000000	0.05858	0.000000	0.03702	0.088000	0.18126	-0.879000	0.04188	-0.965000	0.03591	0.402000	0.26972	CAA	ZNF623	-	NULL	ENSG00000183309		0.413	ZNF623-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF623	HGNC	protein_coding	OTTHUMT00000382522.3	60	0.00	0	A	NM_014789		144733536	144733536	+1	no_errors	ENST00000501748	ensembl	human	known	69_37n	silent	76	12.64	11	SNP	0.000	C
ZNF625	90589	genome.wustl.edu	37	19	12256295	12256295	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:12256295G>A	ENST00000355738.1	-	4	1087	c.738C>T	c.(736-738)ttC>ttT	p.F246F	CTC-359D24.3_ENST00000472362.1_RNA|ZNF625_ENST00000455799.1_3'UTR|ZNF625_ENST00000542938.1_Silent_p.F246F|ZNF625-ZNF20_ENST00000430024.1_Intron|ZNF625_ENST00000439556.2_Silent_p.F312F			Q96I27	ZN625_HUMAN	zinc finger protein 625	246					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(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						AGGCAGATCTGAAGGCTTTCC	0.458																																						dbGAP											0													120.0	116.0	117.0					19																	12256295		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC007868	CCDS12269.1, CCDS12269.2	19p13.2	2013-01-08			ENSG00000257591	ENSG00000257591		"""Zinc fingers, C2H2-type"", ""-"""	30571	protein-coding gene	gene with protein product						12477932	Standard	NM_145233		Approved		uc010dyo.2	Q96I27	OTTHUMG00000156407	ENST00000355738.1:c.738C>T	19.37:g.12256295G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A4FU45|I3L0E9	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.F312	ENST00000355738.1	37	c.936		19																																																																																			ZNF625	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000257591		0.458	ZNF625-201	KNOWN	basic	protein_coding	ZNF625	Clone_based_vega_gene	protein_coding		103	0.00	0	G	NM_145233		12256295	12256295	-1	no_errors	ENST00000439556	ensembl	human	known	69_37n	silent	78	29.09	32	SNP	0.911	A
ZNF630	57232	genome.wustl.edu	37	X	47920250	47920250	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:47920250C>T	ENST00000409324.3	-	3	316	c.90G>A	c.(88-90)aaG>aaA	p.K30K	ZNF630_ENST00000276054.4_5'UTR|ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000442455.3_Silent_p.K16K	NM_001037735.2	NP_001032824.2	Q2M218	ZN630_HUMAN	zinc finger protein 630	30	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(1)|large_intestine(6)|lung(11)|ovary(1)	19						TATGCAGGGTCTTCTGAGCAG	0.493																																						dbGAP											0													83.0	64.0	70.0					X																	47920250		1557	3571	5128	-	-	-	SO:0001819	synonymous_variant	0			AK000580	CCDS35237.2, CCDS75971.1	Xp11.3-p11.1	2013-01-08			ENSG00000221994	ENSG00000221994		"""Zinc fingers, C2H2-type"", ""-"""	28855	protein-coding gene	gene with protein product		300819					Standard	NM_001037735		Approved	BC037316, dJ54B20.2, FLJ20573, MGC138344	uc004div.4	Q2M218	OTTHUMG00000021463	ENST00000409324.3:c.90G>A	X.37:g.47920250C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	F8WAG4|Q5H8Z5	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.K30	ENST00000409324.3	37	c.90	CCDS35237.2	X																																																																																			ZNF630	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000221994		0.493	ZNF630-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF630	HGNC	protein_coding	OTTHUMT00000327254.1	105	0.00	0	C	NM_001037735		47920250	47920250	-1	no_errors	ENST00000409324	ensembl	human	known	69_37n	silent	47	25.40	16	SNP	0.485	T
ZNF638	27332	genome.wustl.edu	37	2	71651097	71651097	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:71651097G>C	ENST00000409544.1	+	22	5083	c.4453G>C	c.(4453-4455)Gat>Cat	p.D1485H	ZNF638_ENST00000264447.4_Missense_Mutation_p.D1485H|ZNF638_ENST00000409407.1_Missense_Mutation_p.D425H|ZNF638_ENST00000355812.3_Intron	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1485					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						GGATTACAGAGATATAACAAA	0.458																																						dbGAP											0													56.0	54.0	54.0					2																	71651097		2203	4300	6503	-	-	-	SO:0001583	missense	0			D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.4453G>C	2.37:g.71651097G>C	ENSP00000386433:p.Asp1485His	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	pfam_RRM_dom,smart_Znf_U1,smart_Znf_C2H2-like,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom	p.D1485H	ENST00000409544.1	37	c.4453	CCDS1917.1	2	.	.	.	.	.	.	.	.	.	.	G	15.55	2.866739	0.51588	.	.	ENSG00000075292	ENST00000264447;ENST00000409544;ENST00000409407;ENST00000462695	T;T;T	0.35605	1.3;1.3;1.69	5.29	4.41	0.53225	.	0.129613	0.35096	N	0.003458	T	0.44829	0.1312	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	0.977;1.0;0.999	P;D;D	0.87578	0.62;0.998;0.921	T	0.36625	-0.9740	10	0.51188	T	0.08	-8.6989	9.7388	0.40404	0.0959:0.0:0.9041:0.0	.	1485;1485;1485	A8K583;Q14966-3;Q14966	.;.;ZN638_HUMAN	H	1485;1485;425;425	ENSP00000264447:D1485H;ENSP00000386433:D1485H;ENSP00000386813:D425H	ENSP00000264447:D1485H	D	+	1	0	ZNF638	71504605	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	4.570000	0.60872	1.233000	0.43693	0.563000	0.77884	GAT	ZNF638	-	NULL	ENSG00000075292		0.458	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF638	HGNC	protein_coding	OTTHUMT00000327431.1	62	0.00	0	G	NM_014497		71651097	71651097	+1	no_errors	ENST00000264447	ensembl	human	known	69_37n	missense	47	24.19	15	SNP	1.000	C
ZNF638	27332	genome.wustl.edu	37	2	71654346	71654346	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:71654346G>A	ENST00000409544.1	+	24	5977	c.5347G>A	c.(5347-5349)Gag>Aag	p.E1783K	ZNF638_ENST00000264447.4_Missense_Mutation_p.E1783K|ZNF638_ENST00000409407.1_Missense_Mutation_p.E723K|ZNF638_ENST00000355812.3_3'UTR	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1783					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						AGTTGGAGAGGAGGAAGATGG	0.378																																						dbGAP											0													104.0	109.0	107.0					2																	71654346		2203	4300	6503	-	-	-	SO:0001583	missense	0			D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.5347G>A	2.37:g.71654346G>A	ENSP00000386433:p.Glu1783Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	pfam_RRM_dom,smart_Znf_U1,smart_Znf_C2H2-like,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom	p.E1783K	ENST00000409544.1	37	c.5347	CCDS1917.1	2	.	.	.	.	.	.	.	.	.	.	G	26.1	4.706313	0.89018	.	.	ENSG00000075292	ENST00000264447;ENST00000409544;ENST00000409407	T;T;T	0.42131	0.98;0.98;1.36	5.71	5.71	0.89125	.	0.082894	0.47852	D	0.000217	T	0.52901	0.1763	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.50118	-0.8865	10	0.42905	T	0.14	-15.7957	17.3445	0.87306	0.0:0.0:1.0:0.0	.	1783;1783	Q14966-3;Q14966	.;ZN638_HUMAN	K	1783;1783;723	ENSP00000264447:E1783K;ENSP00000386433:E1783K;ENSP00000386813:E723K	ENSP00000264447:E1783K	E	+	1	0	ZNF638	71507854	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	5.136000	0.64783	2.686000	0.91538	0.655000	0.94253	GAG	ZNF638	-	NULL	ENSG00000075292		0.378	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF638	HGNC	protein_coding	OTTHUMT00000327431.1	73	0.00	0	G	NM_014497		71654346	71654346	+1	no_errors	ENST00000264447	ensembl	human	known	69_37n	missense	90	12.62	13	SNP	1.000	A
ZNF641	121274	genome.wustl.edu	37	12	48737056	48737056	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr12:48737056C>G	ENST00000544117.2	-	6	1725	c.1017G>C	c.(1015-1017)caG>caC	p.Q339H	ZNF641_ENST00000448928.3_Missense_Mutation_p.Q316H|ZNF641_ENST00000301042.3_Missense_Mutation_p.Q339H|ZNF641_ENST00000547026.1_Missense_Mutation_p.Q325H			Q96N77	ZN641_HUMAN	zinc finger protein 641	339					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|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)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						CATGCACTCTCTGGTGGCTGG	0.557																																						dbGAP											0													115.0	106.0	109.0					12																	48737056		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC018090	CCDS8763.1, CCDS53787.1, CCDS53788.1	12q13.11	2013-01-08				ENSG00000167528		"""Zinc fingers, C2H2-type"", ""-"""	31834	protein-coding gene	gene with protein product		613906					Standard	NM_152320		Approved	FLJ31295	uc001rro.2	Q96N77		ENST00000544117.2:c.1017G>C	12.37:g.48737056C>G	ENSP00000437832:p.Gln339His	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KS43|B4DNU5|Q8TCQ7|Q8WVE1	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.Q339H	ENST00000544117.2	37	c.1017	CCDS8763.1	12	.	.	.	.	.	.	.	.	.	.	C	17.82	3.483527	0.63962	.	.	ENSG00000167528	ENST00000301042;ENST00000544117;ENST00000448928;ENST00000547026	T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15	5.56	4.65	0.58169	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000008	D	0.83312	0.5227	L	0.56769	1.78	0.33208	D	0.553059	D;D	0.71674	0.998;0.995	D;D	0.73380	0.98;0.971	D	0.86047	0.1523	10	0.62326	D	0.03	.	9.0465	0.36349	0.0:0.8346:0.0:0.1654	.	316;339	B4DNU5;Q96N77	.;ZN641_HUMAN	H	339;339;316;325	ENSP00000301042:Q339H;ENSP00000437832:Q339H;ENSP00000394627:Q316H;ENSP00000449974:Q325H	ENSP00000301042:Q339H	Q	-	3	2	ZNF641	47023323	0.942000	0.31987	1.000000	0.80357	0.996000	0.88848	2.099000	0.41767	2.766000	0.95052	0.655000	0.94253	CAG	ZNF641	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000167528		0.557	ZNF641-001	KNOWN	basic|CCDS	protein_coding	ZNF641	HGNC	protein_coding	OTTHUMT00000406518.1	80	0.00	0	C	NM_152320		48737056	48737056	-1	no_errors	ENST00000301042	ensembl	human	known	69_37n	missense	103	23.70	32	SNP	1.000	G
ZNF644	84146	genome.wustl.edu	37	1	91403267	91403267	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:91403267C>T	ENST00000370440.1	-	4	3680	c.3463G>A	c.(3463-3465)Gaa>Aaa	p.E1155K	ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.E1155K|ZNF644_ENST00000347275.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	1155					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(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		GGTTTTGTTTCATCATATTCA	0.378																																						dbGAP											0													125.0	129.0	128.0					1																	91403267		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.3463G>A	1.37:g.91403267C>T	ENSP00000359469:p.Glu1155Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E1155K	ENST00000370440.1	37	c.3463	CCDS731.1	1	.	.	.	.	.	.	.	.	.	.	C	10.42	1.344570	0.24339	.	.	ENSG00000122482	ENST00000370440;ENST00000337393	T;T	0.00638	6.04;6.04	6.06	6.06	0.98353	.	0.214325	0.49305	D	0.000146	T	0.00271	0.0008	N	0.08118	0	0.47949	D	0.999558	B	0.22276	0.067	B	0.12837	0.008	T	0.69914	-0.5016	10	0.41790	T	0.15	-12.7184	13.7717	0.63029	0.0:0.9303:0.0:0.0697	.	1155	Q9H582	ZN644_HUMAN	K	1155	ENSP00000359469:E1155K;ENSP00000337008:E1155K	ENSP00000337008:E1155K	E	-	1	0	ZNF644	91175855	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.169000	0.58223	2.882000	0.98803	0.655000	0.94253	GAA	ZNF644	-	NULL	ENSG00000122482		0.378	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF644	HGNC	protein_coding	OTTHUMT00000027846.2	94	0.00	0	C	NM_032186		91403267	91403267	-1	no_errors	ENST00000337393	ensembl	human	known	69_37n	missense	66	28.26	26	SNP	1.000	T
ZNF652	22834	genome.wustl.edu	37	17	47394868	47394868	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:47394868C>T	ENST00000362063.2	-	2	538	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K	ZNF652_ENST00000430262.2_Missense_Mutation_p.E74K	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	74	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			TCTTCTGTTTCATGGAGATGC	0.463																																						dbGAP											0													165.0	122.0	136.0					17																	47394868		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023141	CCDS32677.1	17q21.32	2013-01-08				ENSG00000198740		"""Zinc fingers, C2H2-type"""	29147	protein-coding gene	gene with protein product		613907				10231032	Standard	NM_014897		Approved	KIAA0924	uc002iow.3	Q9Y2D9		ENST00000362063.2:c.220G>A	17.37:g.47394868C>T	ENSP00000354686:p.Glu74Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A4QPD9|Q5H9Q0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E74K	ENST00000362063.2	37	c.220	CCDS32677.1	17	.	.	.	.	.	.	.	.	.	.	C	10.30	1.313210	0.23908	.	.	ENSG00000198740	ENST00000362063;ENST00000430262	D;D	0.99080	-5.4;-5.4	5.6	5.6	0.85130	.	0.210963	0.49916	D	0.000122	D	0.96460	0.8845	N	0.19112	0.55	0.33089	D	0.537623	B	0.22003	0.063	B	0.19666	0.026	D	0.94744	0.7921	10	0.13108	T	0.6	-13.2723	19.2079	0.93742	0.0:1.0:0.0:0.0	.	74	Q9Y2D9	ZN652_HUMAN	K	74	ENSP00000354686:E74K;ENSP00000416305:E74K	ENSP00000354686:E74K	E	-	1	0	ZNF652	44749867	0.900000	0.30661	0.463000	0.27130	0.267000	0.26476	2.645000	0.46621	2.635000	0.89317	0.655000	0.94253	GAA	ZNF652	-	NULL	ENSG00000198740		0.463	ZNF652-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF652	HGNC	protein_coding	OTTHUMT00000364524.1	116	0.00	0	C	NM_014897		47394868	47394868	-1	no_errors	ENST00000362063	ensembl	human	known	69_37n	missense	100	21.26	27	SNP	0.942	T
ZNF655	79027	genome.wustl.edu	37	7	99170182	99170182	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:99170182C>G	ENST00000394163.2	+	3	634	c.451C>G	c.(451-453)Ctt>Gtt	p.L151V	GS1-259H13.10_ENST00000455905.1_Intron|ZNF655_ENST00000493277.1_Missense_Mutation_p.L186V|ZNF655_ENST00000419215.2_3'UTR|GS1-259H13.10_ENST00000486324.1_Intron|ZNF655_ENST00000424881.1_Missense_Mutation_p.L186V|ZNF655_ENST00000252713.4_Missense_Mutation_p.L151V|ZNF655_ENST00000425063.1_3'UTR	NM_001009960.1|NM_138494.2	NP_001009960.1|NP_612503.1	Q8N720	ZN655_HUMAN	zinc finger protein 655	151					negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					TCAGAGAGTTCTTAGAATACA	0.383																																						dbGAP											0													68.0	67.0	68.0					7																	99170182		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY099353	CCDS5669.1, CCDS5670.1, CCDS34695.1, CCDS47655.1	7q22.1	2013-01-08			ENSG00000197343	ENSG00000197343		"""Zinc fingers, C2H2-type"", ""-"""	30899	protein-coding gene	gene with protein product						11179890, 15558030	Standard	NM_001083956		Approved	VIK-1, VIK	uc010lgc.3	Q8N720	OTTHUMG00000156637	ENST00000394163.2:c.451C>G	7.37:g.99170182C>G	ENSP00000377718:p.Leu151Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D291|A6NGD3|B4E3M4|B7Z9Q9|D6W5T4|Q8IV00|Q8TA89|Q96EZ3|Q9BQ85	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L186V	ENST00000394163.2	37	c.556	CCDS5669.1	7	.	.	.	.	.	.	.	.	.	.	C	11.55	1.672522	0.29693	.	.	ENSG00000197343	ENST00000252713;ENST00000493277;ENST00000424881;ENST00000394163	T;T;T;T	0.05649	3.44;3.41;3.41;3.44	4.56	3.68	0.42216	.	0.000000	0.41605	D	0.000860	T	0.15176	0.0366	L	0.54323	1.7	0.80722	D	1	D;D	0.59767	0.986;0.976	P;P	0.58520	0.84;0.696	T	0.00664	-1.1620	10	0.87932	D	0	-8.8521	11.2293	0.48903	0.0:0.9097:0.0:0.0903	.	186;151	Q8N720-3;Q8N720	.;ZN655_HUMAN	V	151;186;186;151	ENSP00000252713:L151V;ENSP00000419135:L186V;ENSP00000393876:L186V;ENSP00000377718:L151V	ENSP00000252713:L151V	L	+	1	0	ZNF655	99008118	0.788000	0.28762	1.000000	0.80357	0.941000	0.58515	3.539000	0.53604	1.522000	0.49001	0.650000	0.86243	CTT	ZNF655	-	NULL	ENSG00000197343		0.383	ZNF655-009	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	ZNF655	HGNC	protein_coding	OTTHUMT00000344929.1	35	0.00	0	C	NM_138494		99170182	99170182	+1	no_errors	ENST00000424881	ensembl	human	known	69_37n	missense	38	22.45	11	SNP	1.000	G
ZNF658	26149	genome.wustl.edu	37	9	40774052	40774052	+	Missense_Mutation	SNP	C	C	G	rs141026686		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:40774052C>G	ENST00000602553.1	-	5	1517	c.1223G>C	c.(1222-1224)gGa>gCa	p.G408A	ZNF658_ENST00000377626.3_Missense_Mutation_p.G408A|ZNF658_ENST00000441795.1_Missense_Mutation_p.G406A			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	408					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(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		AGTTTTCTCTCCTGAGTGGGG	0.398																																						dbGAP											0													184.0	187.0	186.0					9																	40774052		2203	4300	6503	-	-	-	SO:0001583	missense	0			AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"""Zinc fingers, C2H2-type"", ""-"""	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.1223G>C	9.37:g.40774052C>G	ENSP00000473484:p.Gly408Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6PIP3|Q96M55|Q9H9S6|Q9UG02	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.G408A	ENST00000602553.1	37	c.1223	CCDS35023.1	9	.	.	.	.	.	.	.	.	.	.	c	11.75	1.730676	0.30684	.	.	ENSG00000196409	ENST00000441795;ENST00000377626	T;T	0.20881	2.04;2.04	1.96	1.04	0.20106	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40791	0.1131	M	0.76170	2.325	0.19300	N	0.999977	D;D	0.76494	0.987;0.999	D;D	0.80764	0.925;0.994	T	0.10683	-1.0619	9	0.62326	D	0.03	.	6.6294	0.22849	0.0:0.8363:0.0:0.1637	.	408;408	Q5TYW1-2;Q5TYW1	.;ZN658_HUMAN	A	406;408	ENSP00000408462:G406A;ENSP00000366853:G408A	ENSP00000366853:G408A	G	-	2	0	ZNF658	40764052	0.051000	0.20477	0.001000	0.08648	0.458000	0.32498	1.497000	0.35649	0.405000	0.25532	0.384000	0.25694	GGA	ZNF658	-	pfscan_Znf_C2H2	ENSG00000196409		0.398	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF658	HGNC	protein_coding	OTTHUMT00000467800.1	151	0.00	0	C	NM_033160		40774052	40774052	-1	no_errors	ENST00000377626	ensembl	human	known	69_37n	missense	124	34.74	66	SNP	0.426	G
ZNF662	389114	genome.wustl.edu	37	3	42950311	42950311	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr3:42950311C>G	ENST00000541208.1	+	3	430	c.61C>G	c.(61-63)Ctg>Gtg	p.L21V	ZNF662_ENST00000328199.6_Missense_Mutation_p.L81V|ZNF662_ENST00000440367.2_Missense_Mutation_p.L21V|ZNF662_ENST00000422021.1_Missense_Mutation_p.L21V|KRBOX1_ENST00000426937.1_5'UTR|ZNF662_ENST00000430067.2_3'UTR			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	21	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)			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		CAAACCGGCTCTGATTTCCCA	0.582																																						dbGAP											0													153.0	157.0	156.0					3																	42950311		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK127779	CCDS2708.1, CCDS46807.1	3p22.1	2013-01-08			ENSG00000182983	ENSG00000182983		"""Zinc fingers, C2H2-type"", ""-"""	31930	protein-coding gene	gene with protein product							Standard	NM_207404		Approved	FLJ45880	uc003cmk.2	Q6ZS27	OTTHUMG00000133041	ENST00000541208.1:c.61C>G	3.37:g.42950311C>G	ENSP00000446208:p.Leu21Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A4T9|F8W7S8|Q6ZNF8|Q6ZQW8	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.L81V	ENST00000541208.1	37	c.241	CCDS2708.1	3	.	.	.	.	.	.	.	.	.	.	C	3.574	-0.087102	0.07097	.	.	ENSG00000182983	ENST00000440367;ENST00000328199;ENST00000541208;ENST00000422021	T;T;T	0.09255	3.0;5.65;3.0	2.91	1.9	0.25705	Krueppel-associated box (2);	.	.	.	.	T	0.06142	0.0159	L	0.31578	0.945	0.22412	N	0.99913	P;B	0.41393	0.748;0.372	B;B	0.36959	0.237;0.12	T	0.08166	-1.0735	9	0.02654	T	1	.	9.4762	0.38873	0.0:0.7808:0.2192:0.0	.	81;21	F8W7S8;Q6ZS27	.;ZN662_HUMAN	V	21;81;21;21	ENSP00000405047:L21V;ENSP00000329264:L81V;ENSP00000446208:L21V	ENSP00000329264:L81V	L	+	1	2	ZNF662	42925315	0.002000	0.14202	0.993000	0.49108	0.775000	0.43874	-0.594000	0.05733	1.637000	0.50538	0.561000	0.74099	CTG	ZNF662	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000182983		0.582	ZNF662-201	KNOWN	basic|CCDS	protein_coding	ZNF662	HGNC	protein_coding	OTTHUMT00000256646.4	75	0.00	0	C	NM_207404		42950311	42950311	+1	no_errors	ENST00000328199	ensembl	human	known	69_37n	missense	24	60.00	36	SNP	0.913	G
KRBOX4	55634	genome.wustl.edu	37	X	46332439	46332439	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:46332439G>C	ENST00000344302.4	+	6	1139	c.508G>C	c.(508-510)Gaa>Caa	p.E170Q	KRBOX4_ENST00000478600.1_Intron|KRBOX4_ENST00000360017.5_3'UTR|KRBOX4_ENST00000487081.1_3'UTR|KRBOX4_ENST00000298190.6_Missense_Mutation_p.E165Q	NM_001129898.1|NM_017776.2	NP_001123370.1|NP_060246.2	Q5JUW0	KRBX4_HUMAN	KRAB box domain containing 4	170					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)										ATGTAAGAAAGAAAGATGATG	0.348																																						dbGAP											0													56.0	50.0	52.0					X																	46332439		2201	4298	6499	-	-	-	SO:0001583	missense	0				CCDS14267.1, CCDS48097.1, CCDS48098.1	Xp11.3	2013-01-08	2013-01-08	2013-01-08	ENSG00000147121	ENSG00000147121		"""-"""	26007	protein-coding gene	gene with protein product	"""hypothetical protein FLJ20344"""	300585	"""zinc finger protein 673"", ""zinc finger family member 673"""	ZNF673		11944989	Standard	NM_001129898		Approved	FLJ20344	uc004dgn.4	Q5JUW0	OTTHUMG00000021421	ENST00000344302.4:c.508G>C	X.37:g.46332439G>C	ENSP00000345797:p.Glu170Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0Y8|B3KU22|Q96EA3|Q9NXB1	Missense_Mutation	SNP	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	p.E170Q	ENST00000344302.4	37	c.508	CCDS48097.1	X	.	.	.	.	.	.	.	.	.	.	G	0.020	-1.432759	0.01108	.	.	ENSG00000147121	ENST00000344302;ENST00000298190;ENST00000397212	T;T	0.00856	5.61;5.69	1.74	0.858	0.19030	.	.	.	.	.	T	0.00608	0.0020	N	0.08118	0	0.80722	D	1	B;B	0.24092	0.059;0.097	B;B	0.17722	0.008;0.019	T	0.62627	-0.6814	9	0.52906	T	0.07	10.6543	5.8932	0.18925	0.1923:0.0:0.8077:0.0	.	170;165	Q5JUW0;Q5JUW0-2	ZN673_HUMAN;.	Q	170;165;170	ENSP00000345797:E170Q;ENSP00000298190:E165Q	ENSP00000298190:E165Q	E	+	1	0	ZNF673	46217383	0.768000	0.28519	0.007000	0.13788	0.013000	0.08279	0.456000	0.21859	0.217000	0.20800	0.544000	0.68410	GAA	ZNF673	-	NULL	ENSG00000147121		0.348	KRBOX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF673	HGNC	protein_coding	OTTHUMT00000056359.2	115	0.00	0	G	NM_017776		46332439	46332439	+1	no_errors	ENST00000344302	ensembl	human	known	69_37n	missense	139	17.26	29	SNP	0.805	C
ZNF681	148213	genome.wustl.edu	37	19	23926995	23926995	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:23926995C>T	ENST00000402377.3	-	4	1498	c.1357G>A	c.(1357-1359)Gaa>Aaa	p.E453K	ZNF681_ENST00000395385.3_Missense_Mutation_p.E384K	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	453					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)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				CCACATTCTTCACATTTGTAT	0.368																																						dbGAP											0													52.0	54.0	53.0					19																	23926995		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"""Zinc fingers, C2H2-type"", ""-"""	26457	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31526"""						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.1357G>A	19.37:g.23926995C>T	ENSP00000384000:p.Glu453Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVF7	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.E453K	ENST00000402377.3	37	c.1357	CCDS12414.2	19	.	.	.	.	.	.	.	.	.	.	.	11.44	1.638951	0.29157	.	.	ENSG00000196172	ENST00000402377;ENST00000395385	T;T	0.07216	3.21;3.21	1.51	-0.855	0.10700	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06280	0.0162	L	0.33339	1.005	0.20821	N	0.999849	P	0.49253	0.921	P	0.47573	0.55	T	0.23190	-1.0195	9	0.12103	T	0.63	.	1.8771	0.03220	0.2713:0.3399:0.0:0.3888	.	453	Q96N22	ZN681_HUMAN	K	453;384	ENSP00000384000:E453K;ENSP00000378783:E384K	ENSP00000378783:E384K	E	-	1	0	ZNF681	23718835	0.000000	0.05858	0.356000	0.25785	0.052000	0.14988	-2.718000	0.00813	-0.077000	0.12752	0.313000	0.20887	GAA	ZNF681	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196172		0.368	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF681	HGNC	protein_coding	OTTHUMT00000320248.2	92	0.00	0	C	NM_138286		23926995	23926995	-1	no_errors	ENST00000402377	ensembl	human	known	69_37n	missense	54	28.95	22	SNP	0.859	T
ZNF7	7553	genome.wustl.edu	37	8	146054860	146054860	+	Intron	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:146054860C>G	ENST00000528372.1	+	3	243				ZNF7_ENST00000446747.2_Missense_Mutation_p.Q12E|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000325241.6_Intron|ZNF7_ENST00000529819.1_Intron|ZNF7_ENST00000544249.1_Intron|ZNF7_ENST00000325217.5_Missense_Mutation_p.Q12E|ZNF7_ENST00000532393.1_Intron|ZNF7_ENST00000528130.1_Intron			P17097	ZNF7_HUMAN	zinc finger protein 7						multicellular organismal development (GO:0007275)|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(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		TGTGTCCTTTCAGGAGGTGGT	0.617																																						dbGAP											0													237.0	204.0	215.0					8																	146054860		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AB209619	CCDS6435.1, CCDS64996.1, CCDS64998.1, CCDS64999.1	8q24	2013-01-08	2006-05-09		ENSG00000147789	ENSG00000147789		"""Zinc fingers, C2H2-type"", ""-"""	13139	protein-coding gene	gene with protein product		194531	"""zinc finger protein 7 (KOX 4, clone HF.16)"""			2106481, 1946370	Standard	NM_003416		Approved	KOX4, HF.16	uc003zeg.4	P17097	OTTHUMG00000165200	ENST00000528372.1:c.4-3C>G	8.37:g.146054860C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DT08|D3DWN6|P17015|Q8N8Y4	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.Q12E	ENST00000528372.1	37	c.34	CCDS6435.1	8	.	.	.	.	.	.	.	.	.	.	C	15.56	2.869782	0.51588	.	.	ENSG00000147789	ENST00000446747;ENST00000325217	T;T	0.00940	5.52;5.52	3.81	3.81	0.43845	.	.	.	.	.	T	0.03520	0.0101	.	.	.	0.80722	D	1	P	0.49447	0.924	P	0.59424	0.857	T	0.41645	-0.9497	8	0.72032	D	0.01	.	11.4754	0.50295	0.0:1.0:0.0:0.0	.	12	B4DT08	.	E	12	ENSP00000393260:Q12E;ENSP00000318848:Q12E	ENSP00000318848:Q12E	Q	+	1	0	ZNF7	146025664	0.958000	0.32768	1.000000	0.80357	0.995000	0.86356	1.723000	0.38053	2.431000	0.82371	0.655000	0.94253	CAG	ZNF7	-	superfamily_Krueppel-associated_box	ENSG00000147789		0.617	ZNF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF7	HGNC	protein_coding	OTTHUMT00000382660.1	78	0.00	0	C	NM_003416		146054860	146054860	+1	no_errors	ENST00000446747	ensembl	human	putative	69_37n	missense	44	60.00	66	SNP	1.000	G
ZNF7	7553	genome.wustl.edu	37	8	146067152	146067152	+	Missense_Mutation	SNP	G	G	C	rs200609680		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:146067152G>C	ENST00000528372.1	+	5	900	c.660G>C	c.(658-660)caG>caC	p.Q220H	ZNF7_ENST00000446747.2_Missense_Mutation_p.Q231H|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000325241.6_Missense_Mutation_p.Q220H|ZNF7_ENST00000529819.1_Intron|ZNF7_ENST00000544249.1_Missense_Mutation_p.Q124H|ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000532393.1_3'UTR			P17097	ZNF7_HUMAN	zinc finger protein 7	220					multicellular organismal development (GO:0007275)|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(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		TTAATACACAGAAAATTAGCA	0.463													G|||	1	0.000199681	0.0	0.0	5008	,	,		22702	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													55.0	57.0	56.0					8																	146067152		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB209619	CCDS6435.1, CCDS64996.1, CCDS64998.1, CCDS64999.1	8q24	2013-01-08	2006-05-09		ENSG00000147789	ENSG00000147789		"""Zinc fingers, C2H2-type"", ""-"""	13139	protein-coding gene	gene with protein product		194531	"""zinc finger protein 7 (KOX 4, clone HF.16)"""			2106481, 1946370	Standard	NM_003416		Approved	KOX4, HF.16	uc003zeg.4	P17097	OTTHUMG00000165200	ENST00000528372.1:c.660G>C	8.37:g.146067152G>C	ENSP00000432724:p.Gln220His	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DT08|D3DWN6|P17015|Q8N8Y4	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.Q220H	ENST00000528372.1	37	c.660	CCDS6435.1	8	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	13.92	2.381557	0.42207	.	.	ENSG00000147789	ENST00000532777;ENST00000325241;ENST00000446747;ENST00000544249;ENST00000528372	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	3.97	2.09	0.27110	.	1.089570	0.07203	N	0.857854	T	0.35335	0.0928	L	0.39898	1.24	0.19575	N	0.999965	P;P	0.39964	0.697;0.697	B;B	0.38562	0.276;0.276	T	0.28996	-1.0026	10	0.87932	D	0	-0.9218	7.0936	0.25297	0.0996:0.173:0.7274:0.0	.	231;220	B4DT08;P17097	.;ZNF7_HUMAN	H	220;220;231;124;220	ENSP00000432641:Q220H;ENSP00000320627:Q220H;ENSP00000393260:Q231H;ENSP00000439424:Q124H;ENSP00000432724:Q220H	ENSP00000320627:Q220H	Q	+	3	2	ZNF7	146037956	.	.	0.003000	0.11579	0.124000	0.20399	.	.	0.430000	0.26230	0.462000	0.41574	CAG	ZNF7	-	NULL	ENSG00000147789		0.463	ZNF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF7	HGNC	protein_coding	OTTHUMT00000382660.1	38	0.00	0	G	NM_003416		146067152	146067152	+1	no_errors	ENST00000325241	ensembl	human	known	69_37n	missense	17	71.67	43	SNP	0.080	C
ZNF70	7621	genome.wustl.edu	37	22	24086937	24086937	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr22:24086937G>A	ENST00000341976.3	-	2	851	c.391C>T	c.(391-393)Cac>Tac	p.H131Y		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	131					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(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						GGGGTTCTGTGAGGTGCGTTA	0.567																																						dbGAP											0													186.0	154.0	165.0					22																	24086937		2203	4300	6503	-	-	-	SO:0001583	missense	0			X60077	CCDS13812.1	22q11.23	2013-01-08	2006-05-12		ENSG00000187792	ENSG00000187792		"""Zinc fingers, C2H2-type"""	13140	protein-coding gene	gene with protein product		194544	"""zinc finger protein 70 (Cos17)"""			1639391	Standard	NM_021916		Approved	Cos17, MGC48959	uc002zxs.3	Q9UC06	OTTHUMG00000150739	ENST00000341976.3:c.391C>T	22.37:g.24086937G>A	ENSP00000339314:p.His131Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H131Y	ENST00000341976.3	37	c.391	CCDS13812.1	22	.	.	.	.	.	.	.	.	.	.	G	4.223	0.040207	0.08148	.	.	ENSG00000187792	ENST00000341976	T	0.01005	5.45	3.83	3.83	0.44106	.	.	.	.	.	T	0.01061	0.0035	L	0.27053	0.805	0.09310	N	1	B	0.20368	0.044	B	0.19946	0.027	T	0.45745	-0.9240	9	0.72032	D	0.01	-5.6188	9.7539	0.40492	0.0:0.2108:0.7892:0.0	.	131	Q9UC06	ZNF70_HUMAN	Y	131	ENSP00000339314:H131Y	ENSP00000339314:H131Y	H	-	1	0	ZNF70	22416937	0.015000	0.18098	0.121000	0.21740	0.051000	0.14879	1.959000	0.40412	2.449000	0.82847	0.650000	0.86243	CAC	ZNF70	-	NULL	ENSG00000187792		0.567	ZNF70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF70	HGNC	protein_coding	OTTHUMT00000319881.1	149	0.00	0	G	NM_021916		24086937	24086937	-1	no_errors	ENST00000341976	ensembl	human	known	69_37n	missense	244	14.98	43	SNP	0.081	A
ZNF705G	100131980	genome.wustl.edu	37	8	7216071	7216071	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr8:7216071G>C	ENST00000400156.4	-	7	611	c.330C>G	c.(328-330)ctC>ctG	p.L110L	ZNF705G_ENST00000400078.2_Silent_p.L110L			A8MUZ8	Z705G_HUMAN	zinc finger protein 705G	110					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			lung(9)	9						CCTCCAGAATGAGAGAGTTCT	0.378																																						dbGAP											0													49.0	60.0	57.0					8																	7216071		670	1590	2260	-	-	-	SO:0001819	synonymous_variant	0				CCDS47773.1	8p23.1	2013-01-08			ENSG00000215372	ENSG00000215372		"""Zinc fingers, C2H2-type"", ""-"""	37134	protein-coding gene	gene with protein product							Standard	NM_001164457		Approved		uc022are.1	A8MUZ8	OTTHUMG00000165384	ENST00000400156.4:c.330C>G	8.37:g.7216071G>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L110	ENST00000400156.4	37	c.330		8																																																																																			ZNF705G	-	NULL	ENSG00000215372		0.378	ZNF705G-001	KNOWN	basic|appris_principal	protein_coding	ZNF705G	HGNC	protein_coding	OTTHUMT00000383776.1	270	0.00	0	G	XM_001720517		7216071	7216071	-1	no_errors	ENST00000400078	ensembl	human	known	69_37n	silent	92	13.21	14	SNP	1.000	C
ZNF713	349075	genome.wustl.edu	37	7	56006852	56006852	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:56006852G>C	ENST00000429591.2	+	4	484	c.446G>C	c.(445-447)aGa>aCa	p.R149T	MRPS17_ENST00000426595.1_Intron	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	149					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(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			AACCACAAGAGATATTTAGGA	0.403																																						dbGAP											0													69.0	70.0	69.0					7																	56006852		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK097282	CCDS34639.1	7p11.2	2013-01-08			ENSG00000178665	ENSG00000178665		"""Zinc fingers, C2H2-type"", ""-"""	22043	protein-coding gene	gene with protein product							Standard	NM_182633		Approved	FLJ39963	uc003trc.1	Q8N859	OTTHUMG00000156175	ENST00000429591.2:c.446G>C	7.37:g.56006852G>C	ENSP00000416662:p.Arg149Thr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R149T	ENST00000429591.2	37	c.446	CCDS34639.1	7	.	.	.	.	.	.	.	.	.	.	G	2.721	-0.266501	0.05754	.	.	ENSG00000178665	ENST00000429591	T	0.06933	3.24	3.57	-0.392	0.12442	.	0.455332	0.16762	N	0.200576	T	0.04497	0.0123	L	0.32530	0.975	0.09310	N	0.999996	B	0.02656	0.0	B	0.04013	0.001	T	0.44651	-0.9314	10	0.10377	T	0.69	.	3.3897	0.07285	0.3561:0.2027:0.4412:0.0	.	149	Q8N859	ZN713_HUMAN	T	149	ENSP00000416662:R149T	ENSP00000416662:R149T	R	+	2	0	ZNF713	55974346	0.149000	0.22717	0.912000	0.35992	0.683000	0.39861	0.121000	0.15667	-0.093000	0.12396	-0.218000	0.12543	AGA	ZNF713	-	NULL	ENSG00000178665		0.403	ZNF713-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF713	HGNC	protein_coding	OTTHUMT00000343297.1	57	0.00	0	G	NM_182633		56006852	56006852	+1	no_errors	ENST00000429591	ensembl	human	known	69_37n	missense	66	15.38	12	SNP	0.477	C
ZNF714	148206	genome.wustl.edu	37	19	21300392	21300392	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:21300392G>A	ENST00000596143.1	+	5	1247	c.922G>A	c.(922-924)Gga>Aga	p.G308R	ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000291770.7_3'UTR	NM_182515.3	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	308					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(3)|lung(11)|urinary_tract(2)	18						AATTCATTCTGGAGAGAAATC	0.328																																						dbGAP											0													22.0	24.0	23.0					19																	21300392		2172	4284	6456	-	-	-	SO:0001583	missense	0			AK056006	CCDS54239.1	19p12	2013-01-08				ENSG00000160352		"""Zinc fingers, C2H2-type"""	27124	protein-coding gene	gene with protein product						12477932	Standard	NM_182515		Approved		uc002npo.4	Q96N38		ENST00000596143.1:c.922G>A	19.37:g.21300392G>A	ENSP00000472368:p.Gly308Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q49AI1|Q86W65|Q8ND40	Missense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G308R	ENST00000596143.1	37	c.922	CCDS54239.1	19	.	.	.	.	.	.	.	.	.	.	.	11.05	1.523728	0.27299	.	.	ENSG00000160352	ENST00000343332;ENST00000291770	.	.	.	0.955	0.955	0.19602	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.56031	0.1958	L	0.31157	0.91	0.40817	D	0.983471	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.997;0.999	T	0.55823	-0.8080	8	0.59425	D	0.04	.	8.8708	0.35314	0.0:0.0:1.0:0.0	.	309;308;309	Q96N38-2;A6NEM4;Q96N38	.;.;ZN714_HUMAN	R	308	.	ENSP00000291770:G308R	G	+	1	0	ZNF714	21092232	0.944000	0.32072	0.077000	0.20336	0.070000	0.16714	2.811000	0.47986	0.446000	0.26666	0.449000	0.29647	GGA	ZNF714	-	pfscan_Znf_C2H2	ENSG00000160352		0.328	ZNF714-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF714	HGNC	protein_coding	OTTHUMT00000463930.1	56	0.00	0	G	NM_182515		21300392	21300392	+1	no_errors	ENST00000291770	ensembl	human	known	69_37n	missense	21	22.22	6	SNP	1.000	A
ZNF718	255403	genome.wustl.edu	37	4	155782	155782	+	lincRNA	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:155782C>T	ENST00000510175.1	+	0	1217							Q3SXZ3	ZN718_HUMAN	zinc finger protein 718						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		AAACAGTCCTCACACTTGAAT	0.358																																						dbGAP											0													31.0	35.0	34.0					4																	155782		2096	4250	6346	-	-	-			0			AK096662	CCDS75078.1, CCDS75079.1	4p16.3	2011-05-24			ENSG00000250312	ENSG00000250312		"""Zinc fingers, C2H2-type"""	26889	protein-coding gene	gene with protein product							Standard	XM_005278364		Approved	FLJ90036	uc003fzt.4	Q3SXZ3	OTTHUMG00000159873		4.37:g.155782C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3SXZ4|Q3SXZ5	RNA	SNP	-	NULL	ENST00000510175.1	37	NULL		4																																																																																			ZNF718	-	-	ENSG00000250312		0.358	ZNF718-002	KNOWN	basic	lincRNA	ZNF718	HGNC	lincRNA	OTTHUMT00000357865.3	52	0.00	0	C	NM_001039127		155782	155782	+1	no_errors	ENST00000400172	ensembl	human	known	69_37n	rna	23	52.08	25	SNP	0.001	T
ZNF726	730087	genome.wustl.edu	37	19	24115199	24115199	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:24115199C>G	ENST00000594466.1	+	4	386	c.281C>G	c.(280-282)tCt>tGt	p.S94C	ZNF726_ENST00000334589.5_Intron|ZNF726_ENST00000322487.7_Missense_Mutation_p.S94C|CTB-92J24.3_ENST00000596326.1_RNA|ZNF726_ENST00000575986.1_Intron	NM_001244038.1	NP_001230967.1	A6NNF4	ZN726_HUMAN	zinc finger protein 726	94					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)										GTGGAAGATTCTTTTCAAAAA	0.318																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			DQ036016, BC046415	CCDS59372.1	19p12	2013-01-08			ENSG00000213967	ENSG00000213967		"""Zinc fingers, C2H2-type"", ""-"""	32462	protein-coding gene	gene with protein product							Standard	NM_001244038		Approved		uc021urw.1	A6NNF4	OTTHUMG00000167681	ENST00000594466.1:c.281C>G	19.37:g.24115199C>G	ENSP00000471516:p.Ser94Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	M0R0X8|Q86Y87	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.S94C	ENST00000594466.1	37	c.281	CCDS59372.1	19	.	.	.	.	.	.	.	.	.	.	c	1.917	-0.449324	0.04572	.	.	ENSG00000213967	ENST00000322487	T	0.08458	3.09	0.859	-1.72	0.08107	.	.	.	.	.	T	0.07863	0.0197	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.32402	-0.9908	6	0.49607	T	0.09	.	4.1153	0.10079	0.0:0.4775:0.0:0.5225	.	.	.	.	C	94	ENSP00000317125:S94C	ENSP00000317125:S94C	S	+	2	0	ZNF726	23907039	0.000000	0.05858	0.057000	0.19452	0.055000	0.15305	-0.689000	0.05144	-1.088000	0.03077	-1.088000	0.02184	TCT	ZNF726	-	NULL	ENSG00000213967		0.318	ZNF726-005	PUTATIVE	not_best_in_genome_evidence|basic|CCDS	protein_coding	ZNF726	HGNC	protein_coding	OTTHUMT00000466443.1	63	0.00	0	C	XM_001715134		24115199	24115199	+1	no_errors	ENST00000322487	ensembl	human	known	69_37n	missense	18	35.71	10	SNP	0.002	G
ZNF77	58492	genome.wustl.edu	37	19	2934275	2934275	+	Nonsense_Mutation	SNP	G	G	A	rs140137786		TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:2934275G>A	ENST00000314531.4	-	4	942	c.850C>T	c.(850-852)Cga>Tga	p.R284*		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	284					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(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				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)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		ACATGTTCTCGAAAGTATGAG	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		24509	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													140.0	126.0	131.0					19																	2934275		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			X65230	CCDS12099.1	19p13.3	2013-01-08	2006-05-12					"""Zinc fingers, C2H2-type"", ""-"""	13150	protein-coding gene	gene with protein product		194551	"""zinc finger protein 77 (pT1)"""			8478004	Standard	NM_021217		Approved	pT1	uc002lws.4	Q15935		ENST00000314531.4:c.850C>T	19.37:g.2934275G>A	ENSP00000319053:p.Arg284*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86XJ3|Q9NPP0	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.R284*	ENST00000314531.4	37	c.850	CCDS12099.1	19	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	36	5.762266	0.96906	.	.	ENSG00000175691	ENST00000341064;ENST00000314531	.	.	.	2.47	-0.142	0.13448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	.	5.2582	0.15558	0.0:0.4543:0.3388:0.207	.	.	.	.	X	78;284	.	ENSP00000319053:R284X	R	-	1	2	ZNF77	2885275	0.000000	0.05858	0.001000	0.08648	0.989000	0.77384	-0.710000	0.05024	0.359000	0.24239	0.491000	0.48974	CGA	ZNF77	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000175691		0.453	ZNF77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF77	HGNC	protein_coding	OTTHUMT00000451924.1	104	0.00	0	G	NM_021217		2934275	2934275	-1	no_errors	ENST00000314531	ensembl	human	known	69_37n	nonsense	108	26.03	38	SNP	0.000	A
ZNF761	388561	genome.wustl.edu	37	19	53959979	53959979	+	RNA	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:53959979C>T	ENST00000454407.1	+	0	2671							Q86XN6	ZN761_HUMAN	zinc finger protein 761						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)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		TCGTAGACTTCATACTGGAGA	0.403																																						dbGAP											0													88.0	87.0	88.0					19																	53959979		2203	4300	6503	-	-	-			0			AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"""Zinc fingers, C2H2-type"""	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53959979C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZNB9	RNA	SNP	-	NULL	ENST00000454407.1	37	NULL		19																																																																																			ZNF761	-	-	ENSG00000160336		0.403	ZNF761-203	KNOWN	basic	processed_transcript	ZNF761	HGNC	processed_transcript		84	0.00	0	C	NM_001008401		53959979	53959979	+1	no_errors	ENST00000334095	ensembl	human	known	69_37n	rna	38	47.95	35	SNP	0.868	T
ZNF770	54989	genome.wustl.edu	37	15	35274401	35274401	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:35274401C>T	ENST00000356321.4	-	3	1579	c.1235G>A	c.(1234-1236)tGg>tAg	p.W412*		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	412					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)		CATATTTTGCCAAGAAAATGG	0.338																																						dbGAP											0													57.0	61.0	60.0					15																	35274401		2201	4297	6498	-	-	-	SO:0001587	stop_gained	0			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.1235G>A	15.37:g.35274401C>T	ENSP00000348673:p.Trp412*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZMZ6|Q9NWV2	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.W412*	ENST00000356321.4	37	c.1235	CCDS10042.1	15	.	.	.	.	.	.	.	.	.	.	C	32	5.158142	0.94686	.	.	ENSG00000198146	ENST00000356321	.	.	.	5.55	5.55	0.83447	.	0.113543	0.40064	U	0.001181	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-3.7117	16.8133	0.85726	0.0:1.0:0.0:0.0	.	.	.	.	X	412	.	ENSP00000348673:W412X	W	-	2	0	ZNF770	33061693	1.000000	0.71417	1.000000	0.80357	0.252000	0.25951	1.868000	0.39509	2.885000	0.99019	0.655000	0.94253	TGG	ZNF770	-	NULL	ENSG00000198146		0.338	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF770	HGNC	protein_coding	OTTHUMT00000251896.2	55	0.00	0	C	NM_014106		35274401	35274401	-1	no_errors	ENST00000356321	ensembl	human	known	69_37n	nonsense	40	21.57	11	SNP	1.000	T
ZNF781	163115	genome.wustl.edu	37	19	38160237	38160237	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:38160237G>C	ENST00000590008.1	-	5	1665	c.813C>G	c.(811-813)ctC>ctG	p.L271L	ZFP30_ENST00000586732.1_Intron|ZNF781_ENST00000358582.4_Silent_p.L271L|ZNF781_ENST00000593040.1_5'Flank			Q8N8C0	ZN781_HUMAN	zinc finger protein 781	271					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(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						TGTTGAATAAGAGCTGAACAA	0.378																																						dbGAP											0													90.0	93.0	92.0					19																	38160237		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK097019	CCDS12507.1	19q13.12	2013-01-08				ENSG00000196381		"""Zinc fingers, C2H2-type"""	26745	protein-coding gene	gene with protein product							Standard	NM_152605		Approved	FLJ37549	uc002ogy.2	Q8N8C0		ENST00000590008.1:c.813C>G	19.37:g.38160237G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2VPJ8	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L271	ENST00000590008.1	37	c.813	CCDS12507.1	19																																																																																			ZNF781	-	NULL	ENSG00000196381		0.378	ZNF781-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF781	HGNC	protein_coding	OTTHUMT00000459495.2	115	0.00	0	G	NM_152605		38160237	38160237	-1	no_errors	ENST00000358582	ensembl	human	known	69_37n	silent	82	23.36	25	SNP	0.004	C
ZNF781	163115	genome.wustl.edu	37	19	38160561	38160561	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:38160561G>A	ENST00000590008.1	-	5	1341	c.489C>T	c.(487-489)atC>atT	p.I163I	ZFP30_ENST00000586732.1_Intron|ZNF781_ENST00000358582.4_Silent_p.I163I|ZNF781_ENST00000593040.1_5'Flank			Q8N8C0	ZN781_HUMAN	zinc finger protein 781	163					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(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						TGAATTCTCTGATGCTGAATA	0.378																																						dbGAP											0													106.0	105.0	105.0					19																	38160561		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK097019	CCDS12507.1	19q13.12	2013-01-08				ENSG00000196381		"""Zinc fingers, C2H2-type"""	26745	protein-coding gene	gene with protein product							Standard	NM_152605		Approved	FLJ37549	uc002ogy.2	Q8N8C0		ENST00000590008.1:c.489C>T	19.37:g.38160561G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2VPJ8	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.I163	ENST00000590008.1	37	c.489	CCDS12507.1	19																																																																																			ZNF781	-	NULL	ENSG00000196381		0.378	ZNF781-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF781	HGNC	protein_coding	OTTHUMT00000459495.2	97	0.00	0	G	NM_152605		38160561	38160561	-1	no_errors	ENST00000358582	ensembl	human	known	69_37n	silent	57	24.00	18	SNP	0.969	A
ZNF781	163115	genome.wustl.edu	37	19	38160578	38160578	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:38160578G>A	ENST00000590008.1	-	5	1324	c.472C>T	c.(472-474)Caa>Taa	p.Q158*	ZFP30_ENST00000586732.1_Intron|ZNF781_ENST00000358582.4_Nonsense_Mutation_p.Q158*|ZNF781_ENST00000593040.1_5'Flank			Q8N8C0	ZN781_HUMAN	zinc finger protein 781	158					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.Q158E(1)		NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						AATAAGAGTTGAGCGATTGTT	0.388																																						dbGAP											1	Substitution - Missense(1)	lung(1)											117.0	116.0	117.0					19																	38160578		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK097019	CCDS12507.1	19q13.12	2013-01-08				ENSG00000196381		"""Zinc fingers, C2H2-type"""	26745	protein-coding gene	gene with protein product							Standard	NM_152605		Approved	FLJ37549	uc002ogy.2	Q8N8C0		ENST00000590008.1:c.472C>T	19.37:g.38160578G>A	ENSP00000466370:p.Gln158*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2VPJ8	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q158*	ENST00000590008.1	37	c.472	CCDS12507.1	19	.	.	.	.	.	.	.	.	.	.	G	37	6.362358	0.97507	.	.	ENSG00000196381	ENST00000358582;ENST00000545586	.	.	.	2.3	-0.166	0.13351	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	6.2031	4.6648	0.12660	0.1204:0.0:0.5149:0.3647	.	.	.	.	X	158	.	ENSP00000351391:Q158X	Q	-	1	0	ZNF781	42852418	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.211000	0.17474	-0.084000	0.12595	-0.507000	0.04495	CAA	ZNF781	-	NULL	ENSG00000196381		0.388	ZNF781-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF781	HGNC	protein_coding	OTTHUMT00000459495.2	111	0.00	0	G	NM_152605		38160578	38160578	-1	no_errors	ENST00000358582	ensembl	human	known	69_37n	nonsense	66	18.52	15	SNP	0.005	A
ZNF781	163115	genome.wustl.edu	37	19	38160630	38160630	+	Silent	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:38160630C>T	ENST00000590008.1	-	5	1272	c.420G>A	c.(418-420)ctG>ctA	p.L140L	ZFP30_ENST00000586732.1_Intron|ZNF781_ENST00000358582.4_Silent_p.L140L|ZNF781_ENST00000593040.1_5'Flank			Q8N8C0	ZN781_HUMAN	zinc finger protein 781	140					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(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						AGTCTCTCATCAGTGTGAATT	0.373																																						dbGAP											0													134.0	133.0	133.0					19																	38160630		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK097019	CCDS12507.1	19q13.12	2013-01-08				ENSG00000196381		"""Zinc fingers, C2H2-type"""	26745	protein-coding gene	gene with protein product							Standard	NM_152605		Approved	FLJ37549	uc002ogy.2	Q8N8C0		ENST00000590008.1:c.420G>A	19.37:g.38160630C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2VPJ8	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L140	ENST00000590008.1	37	c.420	CCDS12507.1	19																																																																																			ZNF781	-	NULL	ENSG00000196381		0.373	ZNF781-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF781	HGNC	protein_coding	OTTHUMT00000459495.2	133	0.00	0	C	NM_152605		38160630	38160630	-1	no_errors	ENST00000358582	ensembl	human	known	69_37n	silent	86	21.10	23	SNP	0.857	T
ZNF782	158431	genome.wustl.edu	37	9	99580245	99580245	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:99580245G>C	ENST00000481138.1	-	6	2721	c.2060C>G	c.(2059-2061)tCa>tGa	p.S687*	ZNF782_ENST00000466833.1_5'Flank|ZNF782_ENST00000535338.1_Nonsense_Mutation_p.S555*	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	687					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)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				TCTAAGGCTTGATTTTTGACT	0.388																																						dbGAP											0													89.0	92.0	91.0					9																	99580245		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK131468	CCDS35075.1	9q22.33	2013-01-08			ENSG00000196597	ENSG00000196597		"""Zinc fingers, C2H2-type"", ""-"""	33110	protein-coding gene	gene with protein product							Standard	NM_001001662		Approved	FLJ16636	uc004awp.1	Q6ZMW2	OTTHUMG00000020310	ENST00000481138.1:c.2060C>G	9.37:g.99580245G>C	ENSP00000419397:p.Ser687*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNR0	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.S687*	ENST00000481138.1	37	c.2060	CCDS35075.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	26.0|26.0	4.695094|4.695094	0.88830|0.88830	.|.	.|.	ENSG00000196597|ENSG00000196597	ENST00000289032|ENST00000481138;ENST00000535338	.|.	.|.	.|.	2.87|2.87	2.87|2.87	0.33458|0.33458	.|.	.|.	.|.	.|.	.|.	T|.	0.70570|.	0.3239|.	.|.	.|.	.|.	0.42502|0.42502	D|D	0.992939|0.992939	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.75439|.	-0.3317|.	4|.	.|0.87932	.|D	.|0	.|.	11.9523|11.9523	0.52962|0.52962	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	M|X	675|687;555	.|.	.|ENSP00000419397:S687X	I|S	-|-	3|2	3|0	ZNF782|ZNF782	98620066|98620066	0.001000|0.001000	0.12720|0.12720	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.105000|1.105000	0.31086|0.31086	1.894000|1.894000	0.54839|0.54839	0.655000|0.655000	0.94253|0.94253	ATC|TCA	ZNF782	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196597		0.388	ZNF782-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF782	HGNC	protein_coding	OTTHUMT00000356810.1	135	0.00	0	G	NM_001001662		99580245	99580245	-1	no_errors	ENST00000481138	ensembl	human	known	69_37n	nonsense	138	15.34	25	SNP	0.997	C
ZNF783	100289678	genome.wustl.edu	37	7	148975600	148975600	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:148975600C>T	ENST00000434415.1	+	5	947	c.784C>T	c.(784-786)Cca>Tca	p.P262S	ZNF783_ENST00000489518.1_3'UTR	NM_001195220.1	NP_001182149.1	Q6ZMS7	ZN783_HUMAN	zinc finger family member 783	262					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			GAGAGTGGCCCCAGCCGGGCC	0.632																																						dbGAP											0													27.0	38.0	34.0					7																	148975600		2122	4224	6346	-	-	-	SO:0001583	missense	0			AK131504	CCDS56519.1	7q36.1	2013-01-08	2008-05-28		ENSG00000204946	ENSG00000204946		"""Zinc fingers, C2H2-type"", ""-"""	27222	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001195220		Approved	DKFZp667J212	uc011kuo.2	Q6ZMS7	OTTHUMG00000158969	ENST00000434415.1:c.784C>T	7.37:g.148975600C>T	ENSP00000410890:p.Pro262Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	C9J9J2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.P262S	ENST00000434415.1	37	c.784	CCDS56519.1	7	.	.	.	.	.	.	.	.	.	.	C	8.208	0.799752	0.16397	.	.	ENSG00000204946	ENST00000434415	T	0.06371	3.31	3.82	2.93	0.34026	.	.	.	.	.	T	0.05181	0.0138	N	0.19112	0.55	0.09310	N	0.999993	.	.	.	.	.	.	T	0.44697	-0.9311	7	0.20046	T	0.44	-0.0233	9.5233	0.39149	0.0:0.7858:0.2142:0.0	.	.	.	.	S	262	ENSP00000410890:P262S	ENSP00000367291:P262S	P	+	1	0	ZNF783	148606533	0.000000	0.05858	0.007000	0.13788	0.013000	0.08279	0.193000	0.17116	1.183000	0.42943	0.655000	0.94253	CCA	ZNF783	-	NULL	ENSG00000204946		0.632	ZNF783-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF783	HGNC	protein_coding	OTTHUMT00000352715.1	31	0.00	0	C	NM_001195220		148975600	148975600	+1	no_errors	ENST00000434415	ensembl	human	known	69_37n	missense	38	32.14	18	SNP	0.004	T
ZNF785	146540	genome.wustl.edu	37	16	30594472	30594472	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:30594472G>A	ENST00000395216.2	-	3	786	c.627C>T	c.(625-627)ttC>ttT	p.F209F	ZNF785_ENST00000470110.1_Silent_p.F194F|AC002310.7_ENST00000486926.1_RNA|AC002310.7_ENST00000492040.1_RNA|RP11-146F11.5_ENST00000563540.1_RNA	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN	zinc finger protein 785	209					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(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						TGCGCTGGGAGAAACGCGCCT	0.687																																						dbGAP											0													39.0	43.0	42.0					16																	30594472		2197	4299	6496	-	-	-	SO:0001819	synonymous_variant	0			BC040642	CCDS10685.1	16p11.2	2013-01-08			ENSG00000197162	ENSG00000197162		"""Zinc fingers, C2H2-type"", ""-"""	26496	protein-coding gene	gene with protein product						10493829	Standard	NM_152458		Approved	FLJ32130	uc002dyu.3	A8K8V0	OTTHUMG00000132398	ENST00000395216.2:c.627C>T	16.37:g.30594472G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O75701|Q8IW91|Q8WV14|Q96MN0	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.F209	ENST00000395216.2	37	c.627	CCDS10685.1	16																																																																																			ZNF785	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197162		0.687	ZNF785-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF785	HGNC	protein_coding	OTTHUMT00000255529.2	64	0.00	0	G	NM_152458		30594472	30594472	-1	no_errors	ENST00000395216	ensembl	human	known	69_37n	silent	37	37.29	22	SNP	1.000	A
ZNF786	136051	genome.wustl.edu	37	7	148768317	148768317	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:148768317C>G	ENST00000491431.1	-	4	1611	c.1547G>C	c.(1546-1548)aGa>aCa	p.R516T	ZNF786_ENST00000316286.9_Missense_Mutation_p.R430T|ZNF786_ENST00000451334.3_Missense_Mutation_p.R479T	NM_152411.3	NP_689624.2	Q8N393	ZN786_HUMAN	zinc finger protein 786	516					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)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GGTGAAGCCTCTGCCACACTC	0.652																																						dbGAP											0													31.0	36.0	34.0					7																	148768317		2117	4244	6361	-	-	-	SO:0001583	missense	0			AK095701, AL834510	CCDS47738.1	7q36.1	2013-01-08			ENSG00000197362	ENSG00000197362		"""Zinc fingers, C2H2-type"", ""-"""	21806	protein-coding gene	gene with protein product							Standard	NM_152411		Approved	DKFZp762I137	uc003wfh.2	Q8N393	OTTHUMG00000158975	ENST00000491431.1:c.1547G>C	7.37:g.148768317C>G	ENSP00000417470:p.Arg516Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A568|B4DMI1	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.R516T	ENST00000491431.1	37	c.1547	CCDS47738.1	7	.	.	.	.	.	.	.	.	.	.	C	12.48	1.950863	0.34471	.	.	ENSG00000197362	ENST00000316286;ENST00000491431;ENST00000451334	T;T;T	0.19394	2.15;2.15;2.15	4.6	2.63	0.31362	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.258362	0.17697	N	0.165080	T	0.34571	0.0902	M	0.64260	1.97	0.09310	N	1	D	0.69078	0.997	D	0.63793	0.918	T	0.06534	-1.0821	10	0.87932	D	0	-17.976	5.1975	0.15246	0.0:0.668:0.0:0.332	.	516	Q8N393	ZN786_HUMAN	T	430;516;479	ENSP00000313516:R430T;ENSP00000417470:R516T;ENSP00000404984:R479T	ENSP00000313516:R430T	R	-	2	0	ZNF786	148399250	0.000000	0.05858	0.072000	0.20136	0.474000	0.32979	0.155000	0.16362	1.172000	0.42781	-0.150000	0.13652	AGA	ZNF786	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197362		0.652	ZNF786-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF786	HGNC	protein_coding	OTTHUMT00000352751.1	11	0.00	0	C	NM_152411		148768317	148768317	-1	no_errors	ENST00000491431	ensembl	human	known	69_37n	missense	20	33.33	10	SNP	0.010	G
ZNF786	136051	genome.wustl.edu	37	7	148769161	148769161	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:148769161G>A	ENST00000491431.1	-	4	767	c.703C>T	c.(703-705)Cgg>Tgg	p.R235W	ZNF786_ENST00000316286.9_Missense_Mutation_p.R149W|ZNF786_ENST00000451334.3_Missense_Mutation_p.R198W	NM_152411.3	NP_689624.2	Q8N393	ZN786_HUMAN	zinc finger protein 786	235					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)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CTCTGTACCCGAGGGCTGCTC	0.627																																						dbGAP											0													29.0	35.0	33.0					7																	148769161		2124	4216	6340	-	-	-	SO:0001583	missense	0			AK095701, AL834510	CCDS47738.1	7q36.1	2013-01-08			ENSG00000197362	ENSG00000197362		"""Zinc fingers, C2H2-type"", ""-"""	21806	protein-coding gene	gene with protein product							Standard	NM_152411		Approved	DKFZp762I137	uc003wfh.2	Q8N393	OTTHUMG00000158975	ENST00000491431.1:c.703C>T	7.37:g.148769161G>A	ENSP00000417470:p.Arg235Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A568|B4DMI1	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.R235W	ENST00000491431.1	37	c.703	CCDS47738.1	7	.	.	.	.	.	.	.	.	.	.	G	8.079	0.772043	0.16051	.	.	ENSG00000197362	ENST00000316286;ENST00000538412;ENST00000491431;ENST00000451334	T;T;T	0.10668	2.85;3.03;2.92	3.6	-7.21	0.01490	.	.	.	.	.	T	0.03651	0.0104	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.41645	-0.9497	9	0.87932	D	0	-7.9659	0.2915	0.00259	0.2374:0.1899:0.2667:0.3059	.	235	Q8N393	ZN786_HUMAN	W	149;149;235;198	ENSP00000313516:R149W;ENSP00000417470:R235W;ENSP00000404984:R198W	ENSP00000313516:R149W	R	-	1	2	ZNF786	148400094	0.132000	0.22450	0.000000	0.03702	0.003000	0.03518	3.428000	0.52792	-1.367000	0.02152	-1.288000	0.01363	CGG	ZNF786	-	NULL	ENSG00000197362		0.627	ZNF786-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF786	HGNC	protein_coding	OTTHUMT00000352751.1	19	0.00	0	G	NM_152411		148769161	148769161	-1	no_errors	ENST00000491431	ensembl	human	known	69_37n	missense	17	47.06	16	SNP	0.000	A
ZNF79	7633	genome.wustl.edu	37	9	130206315	130206315	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:130206315G>A	ENST00000342483.5	+	5	742	c.336G>A	c.(334-336)aaG>aaA	p.K112K	ZNF79_ENST00000543471.1_Silent_p.K88K	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	112					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(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						CAGGCTGGAAGATTATATCTG	0.488																																						dbGAP											0													68.0	70.0	69.0					9																	130206315		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X65232	CCDS6871.1, CCDS69664.1, CCDS75904.1	9q34	2013-01-08	2006-05-12		ENSG00000196152	ENSG00000196152		"""Zinc fingers, C2H2-type"""	13153	protein-coding gene	gene with protein product		194552	"""zinc finger protein 79 (pT7)"""			8478004	Standard	NM_007135		Approved	pT7	uc004bqw.4	Q15937	OTTHUMG00000020703	ENST00000342483.5:c.336G>A	9.37:g.130206315G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VVW1|Q96NV1	Silent	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K112	ENST00000342483.5	37	c.336	CCDS6871.1	9																																																																																			ZNF79	-	NULL	ENSG00000196152		0.488	ZNF79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF79	HGNC	protein_coding	OTTHUMT00000054188.1	29	0.00	0	G	NM_007135		130206315	130206315	+1	no_errors	ENST00000342483	ensembl	human	known	69_37n	silent	36	16.28	7	SNP	0.743	A
ZNF79	7633	genome.wustl.edu	37	9	130206421	130206421	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr9:130206421G>C	ENST00000342483.5	+	5	848	c.442G>C	c.(442-444)Gag>Cag	p.E148Q	ZNF79_ENST00000543471.1_Missense_Mutation_p.E124Q	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	148					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(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						CAGTGACCTTGAGAAGAGCTT	0.537																																						dbGAP											0													106.0	98.0	101.0					9																	130206421		2203	4300	6503	-	-	-	SO:0001583	missense	0			X65232	CCDS6871.1, CCDS69664.1, CCDS75904.1	9q34	2013-01-08	2006-05-12		ENSG00000196152	ENSG00000196152		"""Zinc fingers, C2H2-type"""	13153	protein-coding gene	gene with protein product		194552	"""zinc finger protein 79 (pT7)"""			8478004	Standard	NM_007135		Approved	pT7	uc004bqw.4	Q15937	OTTHUMG00000020703	ENST00000342483.5:c.442G>C	9.37:g.130206421G>C	ENSP00000362446:p.Glu148Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VVW1|Q96NV1	Missense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E148Q	ENST00000342483.5	37	c.442	CCDS6871.1	9	.	.	.	.	.	.	.	.	.	.	G	8.210	0.800145	0.16397	.	.	ENSG00000196152	ENST00000342483;ENST00000543471	T;T	0.06849	3.25;3.25	3.86	2.01	0.26516	.	.	.	.	.	T	0.06416	0.0165	L	0.27053	0.805	0.09310	N	1	B	0.22604	0.072	B	0.19946	0.027	T	0.35351	-0.9792	9	0.52906	T	0.07	.	7.4091	0.27007	0.218:0.0:0.782:0.0	.	148	Q15937	ZNF79_HUMAN	Q	148;124	ENSP00000362446:E148Q;ENSP00000438418:E124Q	ENSP00000362446:E148Q	E	+	1	0	ZNF79	129246242	0.465000	0.25815	0.001000	0.08648	0.028000	0.11728	1.542000	0.36137	0.320000	0.23234	-0.140000	0.14226	GAG	ZNF79	-	NULL	ENSG00000196152		0.537	ZNF79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF79	HGNC	protein_coding	OTTHUMT00000054188.1	44	0.00	0	G	NM_007135		130206421	130206421	+1	no_errors	ENST00000342483	ensembl	human	known	69_37n	missense	46	32.35	22	SNP	0.073	C
ZNF799	90576	genome.wustl.edu	37	19	12502802	12502802	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:12502802C>T	ENST00000430385.3	-	4	610	c.410G>A	c.(409-411)gGa>gAa	p.G137E	CTD-3105H18.16_ENST00000595562.1_Missense_Mutation_p.G137E|ZNF799_ENST00000419318.1_Missense_Mutation_p.G105E|CTD-3105H18.14_ENST00000435033.1_Intron	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	137					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(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TGGCTTCTCTCCACATTCATG	0.428																																						dbGAP											0													162.0	152.0	155.0					19																	12502802		2203	4299	6502	-	-	-	SO:0001583	missense	0			BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"""Zinc fingers, C2H2-type"", ""-"""	28071	protein-coding gene	gene with protein product			"""zinc finger protein 842"""	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.410G>A	19.37:g.12502802C>T	ENSP00000411084:p.Gly137Glu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G137E	ENST00000430385.3	37	c.410	CCDS45989.1	19	.	.	.	.	.	.	.	.	.	.	C	11.96	1.794769	0.31777	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.07444	3.19;3.35	1.0	-0.134	0.13481	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20455	0.0492	M	0.78916	2.43	0.09310	N	1	D	0.62365	0.991	D	0.63957	0.92	T	0.09707	-1.0662	9	0.62326	D	0.03	.	3.2978	0.06973	0.0:0.6888:0.0:0.3112	.	137	Q96GE5	ZN799_HUMAN	E	105;137	ENSP00000415278:G105E;ENSP00000411084:G137E	ENSP00000415278:G105E	G	-	2	0	ZNF799	12363802	0.000000	0.05858	0.100000	0.21137	0.198000	0.23893	-0.467000	0.06664	-0.005000	0.14395	0.430000	0.28490	GGA	ZNF799	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196466		0.428	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF799	HGNC	protein_coding	OTTHUMT00000344099.2	279	0.00	0	C	NM_001080821		12502802	12502802	-1	no_errors	ENST00000430385	ensembl	human	known	69_37n	missense	181	24.58	59	SNP	0.046	T
ZNF791	163049	genome.wustl.edu	37	19	12739748	12739748	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:12739748G>C	ENST00000343325.4	+	4	1567	c.1405G>C	c.(1405-1407)Gaa>Caa	p.E469Q	AC010422.1_ENST00000408416.1_RNA|ZNF791_ENST00000446165.1_3'UTR|ZNF791_ENST00000540038.1_Missense_Mutation_p.E360Q|ZNF791_ENST00000458122.3_Missense_Mutation_p.E437Q|ZNF490_ENST00000465656.1_Intron	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	469					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(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						GAAACCCTATGAATGTAAACA	0.408																																						dbGAP											0													57.0	59.0	58.0					19																	12739748		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074877	CCDS12273.1	19p13.2-p13.13	2013-01-08			ENSG00000173875	ENSG00000173875		"""Zinc fingers, C2H2-type"", ""-"""	26895	protein-coding gene	gene with protein product							Standard	NM_153358		Approved	FLJ90396	uc002mua.2	Q3KP31	OTTHUMG00000156426	ENST00000343325.4:c.1405G>C	19.37:g.12739748G>C	ENSP00000342974:p.Glu469Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z586|Q8NC99	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.E469Q	ENST00000343325.4	37	c.1405	CCDS12273.1	19	.	.	.	.	.	.	.	.	.	.	G	12.85	2.061370	0.36373	.	.	ENSG00000173875	ENST00000343325;ENST00000393303;ENST00000458122;ENST00000540038	T;T;T	0.07444	3.19;3.19;3.19	1.83	1.83	0.25207	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05823	0.0152	N	0.12502	0.225	0.09310	N	1	P	0.39717	0.684	B	0.43508	0.422	T	0.36016	-0.9765	9	0.44086	T	0.13	.	5.4696	0.16662	0.0:0.0:0.6707:0.3293	.	469	Q3KP31	ZN791_HUMAN	Q	469;423;437;360	ENSP00000342974:E469Q;ENSP00000441761:E437Q;ENSP00000441038:E360Q	ENSP00000342974:E469Q	E	+	1	0	ZNF791	12600748	0.000000	0.05858	0.999000	0.59377	0.970000	0.65996	-0.375000	0.07475	1.007000	0.39238	0.491000	0.48974	GAA	ZNF791	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000173875		0.408	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF791	HGNC	protein_coding	OTTHUMT00000344140.1	59	0.00	0	G	NM_153358		12739748	12739748	+1	no_errors	ENST00000343325	ensembl	human	known	69_37n	missense	43	24.56	14	SNP	0.110	C
ZNF791	163049	genome.wustl.edu	37	19	12739988	12739988	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:12739988G>A	ENST00000343325.4	+	4	1807	c.1645G>A	c.(1645-1647)Gag>Aag	p.E549K	AC010422.1_ENST00000408416.1_RNA|ZNF791_ENST00000446165.1_3'UTR|ZNF791_ENST00000540038.1_Missense_Mutation_p.E440K|ZNF791_ENST00000458122.3_Missense_Mutation_p.E517K|ZNF490_ENST00000465656.1_Intron	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	549					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(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						TCACAATTATGAGAAACCTCT	0.358																																						dbGAP											0													77.0	82.0	81.0					19																	12739988		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074877	CCDS12273.1	19p13.2-p13.13	2013-01-08			ENSG00000173875	ENSG00000173875		"""Zinc fingers, C2H2-type"", ""-"""	26895	protein-coding gene	gene with protein product							Standard	NM_153358		Approved	FLJ90396	uc002mua.2	Q3KP31	OTTHUMG00000156426	ENST00000343325.4:c.1645G>A	19.37:g.12739988G>A	ENSP00000342974:p.Glu549Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z586|Q8NC99	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.E549K	ENST00000343325.4	37	c.1645	CCDS12273.1	19	.	.	.	.	.	.	.	.	.	.	G	11.72	1.723311	0.30503	.	.	ENSG00000173875	ENST00000343325;ENST00000458122;ENST00000540038	T;T;T	0.24350	1.86;1.86;1.86	1.83	1.83	0.25207	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.25606	0.0623	M	0.64170	1.965	0.26797	N	0.969284	B	0.26120	0.142	B	0.20184	0.028	T	0.23261	-1.0193	9	0.72032	D	0.01	.	9.2247	0.37398	0.0:0.0:1.0:0.0	.	549	Q3KP31	ZN791_HUMAN	K	549;517;440	ENSP00000342974:E549K;ENSP00000441761:E517K;ENSP00000441038:E440K	ENSP00000342974:E549K	E	+	1	0	ZNF791	12600988	1.000000	0.71417	0.885000	0.34714	0.486000	0.33341	4.500000	0.60387	1.007000	0.39238	0.491000	0.48974	GAG	ZNF791	-	pfscan_Znf_C2H2	ENSG00000173875		0.358	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF791	HGNC	protein_coding	OTTHUMT00000344140.1	62	0.00	0	G	NM_153358		12739988	12739988	+1	no_errors	ENST00000343325	ensembl	human	known	69_37n	missense	40	31.03	18	SNP	1.000	A
ZNF790	388536	genome.wustl.edu	37	19	37314687	37314687	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:37314687C>T	ENST00000356725.4	-	3	135	c.15G>A	c.(13-15)atG>atA	p.M5I	CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	5	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)			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CCCTGAACATCATCAACTGTT	0.398																																						dbGAP											0													72.0	71.0	71.0					19																	37314687		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC057245	CCDS12496.1	19q13.12	2013-01-08			ENSG00000197863	ENSG00000197863		"""Zinc fingers, C2H2-type"", ""-"""	33114	protein-coding gene	gene with protein product							Standard	NM_206894		Approved	MGC62100, FLJ20350	uc021utm.1	Q6PG37	OTTHUMG00000165616	ENST00000356725.4:c.15G>A	19.37:g.37314687C>T	ENSP00000349161:p.Met5Ile	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.M5I	ENST00000356725.4	37	c.15	CCDS12496.1	19	.	.	.	.	.	.	.	.	.	.	C	9.876	1.200154	0.22121	.	.	ENSG00000197863	ENST00000356725;ENST00000528994;ENST00000525288;ENST00000527645	T;T;T;T	0.00760	5.73;5.73;5.73;5.73	3.53	1.27	0.21489	Krueppel-associated box (3);	.	.	.	.	T	0.00637	0.0021	N	0.20357	0.565	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.47787	-0.9090	9	0.52906	T;T	0.07;0.07	.	4.0711	0.09882	0.2309:0.6418:0.0:0.1273	.	5	Q6PG37	ZN790_HUMAN	I	5	ENSP00000349161:M5I;ENSP00000435944:M5I;ENSP00000433389:M5I;ENSP00000434537:M5I	ENSP00000349161:M5I;ENSP00000349161:M5I	M	-	3	0	ZNF790	42006527	0.028000	0.19301	0.003000	0.11579	0.224000	0.24922	0.961000	0.29267	0.265000	0.21872	-0.225000	0.12378	ATG	ZNF790	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000197863		0.398	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF790	HGNC	protein_coding	OTTHUMT00000385341.2	109	0.00	0	C	NM_206894		37314687	37314687	-1	no_errors	ENST00000356725	ensembl	human	known	69_37n	missense	80	20.79	21	SNP	0.019	T
ZNF8	7554	genome.wustl.edu	37	19	58806254	58806254	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:58806254G>C	ENST00000196548.5	+	4	1211	c.1080G>C	c.(1078-1080)aaG>aaC	p.K360N	AC010642.1_ENST00000591325.1_3'UTR|ZNF8_ENST00000608843.1_Missense_Mutation_p.K360N			P17098	ZNF8_HUMAN	zinc finger protein 8	360					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)		GGCGGCACAAGAGGACACACA	0.572																																						dbGAP											0													76.0	76.0	76.0					19																	58806254		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.1080G>C	19.37:g.58806254G>C	ENSP00000196548:p.Lys360Asn	Somatic		WXS	Illumina GAIIx	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.K360N	ENST00000196548.5	37	c.1080	CCDS12974.1	19	.	.	.	.	.	.	.	.	.	.	G	18.28	3.588120	0.66105	.	.	ENSG00000083842	ENST00000196548;ENST00000546178	T	0.51817	0.69	4.82	1.55	0.23275	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.332186	0.22515	N	0.059050	T	0.38692	0.1050	L	0.28192	0.835	0.34582	D	0.714553	P	0.38677	0.642	P	0.45829	0.494	T	0.51100	-0.8748	10	0.72032	D	0.01	-23.9405	7.5785	0.27950	0.3439:0.0:0.6561:0.0	.	360	P17098	ZNF8_HUMAN	N	360;75	ENSP00000196548:K360N	ENSP00000196548:K360N	K	+	3	2	ZNF8	63498066	0.002000	0.14202	0.973000	0.42090	0.974000	0.67602	1.033000	0.30191	0.347000	0.23924	0.644000	0.83932	AAG	ZNF8	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000083842		0.572	ZNF8-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	ZNF8	HGNC	protein_coding	OTTHUMT00000459135.1	28	0.00	0	G	NM_021089		58806254	58806254	+1	no_errors	ENST00000196548	ensembl	human	known	69_37n	missense	28	33.33	14	SNP	0.994	C
ZNF804A	91752	genome.wustl.edu	37	2	185803052	185803052	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr2:185803052G>A	ENST00000302277.6	+	4	3523	c.2929G>A	c.(2929-2931)Gag>Aag	p.E977K		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	977							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TGAACTGGCTGAGGCCCTTCC	0.398																																						dbGAP											0													100.0	96.0	97.0					2																	185803052		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.2929G>A	2.37:g.185803052G>A	ENSP00000303252:p.Glu977Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E253|Q6ZN26	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.E977K	ENST00000302277.6	37	c.2929	CCDS2291.1	2	.	.	.	.	.	.	.	.	.	.	G	13.19	2.162742	0.38217	.	.	ENSG00000170396	ENST00000302277	T	0.08370	3.1	5.14	4.25	0.50352	.	0.118731	0.37348	N	0.002130	T	0.19805	0.0476	L	0.57536	1.79	0.33388	D	0.575729	D	0.52996	0.957	P	0.56865	0.808	T	0.21211	-1.0252	10	0.66056	D	0.02	-10.1567	13.0638	0.59022	0.0:0.1614:0.8386:0.0	.	977	Q7Z570	Z804A_HUMAN	K	977	ENSP00000303252:E977K	ENSP00000303252:E977K	E	+	1	0	ZNF804A	185511297	0.997000	0.39634	0.990000	0.47175	0.473000	0.32948	2.786000	0.47790	1.119000	0.41883	0.467000	0.42956	GAG	ZNF804A	-	NULL	ENSG00000170396		0.398	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804A	HGNC	protein_coding	OTTHUMT00000255871.1	43	0.00	0	G	NM_194250		185803052	185803052	+1	no_errors	ENST00000302277	ensembl	human	known	69_37n	missense	49	12.50	7	SNP	0.997	A
ZNF804B	219578	genome.wustl.edu	37	7	88964626	88964626	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:88964626C>A	ENST00000333190.4	+	4	2939	c.2330C>A	c.(2329-2331)tCt>tAt	p.S777Y		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	777							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)			CAAATGCAGTCTGAACCACAG	0.373										HNSCC(36;0.09)																												dbGAP											0													51.0	47.0	48.0					7																	88964626		2203	4299	6502	-	-	-	SO:0001583	missense	0			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.2330C>A	7.37:g.88964626C>A	ENSP00000329638:p.Ser777Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.S777Y	ENST00000333190.4	37	c.2330	CCDS5613.1	7	.	.	.	.	.	.	.	.	.	.	C	13.67	2.307478	0.40795	.	.	ENSG00000182348	ENST00000333190	T	0.05717	3.4	5.39	3.6	0.41247	.	0.921163	0.09291	N	0.822316	T	0.05914	0.0154	L	0.32530	0.975	0.09310	N	1	P	0.37398	0.593	B	0.37047	0.24	T	0.39941	-0.9589	10	0.72032	D	0.01	-0.0867	3.7068	0.08404	0.1342:0.587:0.1303:0.1486	.	777	A4D1E1	Z804B_HUMAN	Y	777	ENSP00000329638:S777Y	ENSP00000329638:S777Y	S	+	2	0	ZNF804B	88802562	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	0.051000	0.14141	0.861000	0.35504	-0.145000	0.13849	TCT	ZNF804B	-	NULL	ENSG00000182348		0.373	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804B	HGNC	protein_coding	OTTHUMT00000253683.2	26	0.00	0	C	NM_181646		88964626	88964626	+1	no_errors	ENST00000333190	ensembl	human	known	69_37n	missense	35	28.57	14	SNP	0.000	A
ZNF823	55552	genome.wustl.edu	37	19	11833998	11833998	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:11833998G>C	ENST00000341191.6	-	4	504	c.351C>G	c.(349-351)atC>atG	p.I117M	ZNF823_ENST00000440527.1_3'UTR|ZNF823_ENST00000545749.1_De_novo_Start_InFrame|CTC-499B15.6_ENST00000586983.1_RNA	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	117					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(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						TGTCAACTCTGATGTTGCAAT	0.438										HNSCC(68;0.2)																												dbGAP											0													173.0	166.0	168.0					19																	11833998		2202	4300	6502	-	-	-	SO:0001583	missense	0			X51760	CCDS45981.1	19p13.2	2013-01-08			ENSG00000197933	ENSG00000197933		"""Zinc fingers, C2H2-type"", ""-"""	30936	protein-coding gene	gene with protein product	"""ZFP 36 for a zinc finger protein"""						Standard	XM_006722789		Approved	HSZFP36	uc002msm.2	P16415	OTTHUMG00000156528	ENST00000341191.6:c.351C>G	19.37:g.11833998G>C	ENSP00000340683:p.Ile117Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJL4|B7Z8D4|Q6P4A9	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.I117M	ENST00000341191.6	37	c.351	CCDS45981.1	19	.	.	.	.	.	.	.	.	.	.	g	6.121	0.390553	0.11581	.	.	ENSG00000197933	ENST00000341191;ENST00000431998	T;T	0.07800	4.1;3.16	0.632	-0.833	0.10782	.	.	.	.	.	T	0.04907	0.0132	N	0.04203	-0.255	0.22947	N	0.998528	P	0.49253	0.921	P	0.48770	0.589	T	0.36890	-0.9729	9	0.37606	T	0.19	.	5.1431	0.14969	0.2573:0.0:0.7427:0.0	.	117	P16415	ZN823_HUMAN	M	117;73	ENSP00000340683:I117M;ENSP00000410654:I73M	ENSP00000340683:I117M	I	-	3	3	ZNF823	11694998	0.000000	0.05858	0.003000	0.11579	0.113000	0.19764	-2.182000	0.01256	-0.247000	0.09597	0.298000	0.19748	ATC	ZNF823	-	NULL	ENSG00000197933		0.438	ZNF823-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF823	HGNC	protein_coding	OTTHUMT00000344516.2	213	0.00	0	G	NM_001080493		11833998	11833998	-1	no_errors	ENST00000341191	ensembl	human	known	69_37n	missense	144	22.16	41	SNP	0.012	C
ZNF813	126017	genome.wustl.edu	37	19	53993818	53993818	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:53993818C>T	ENST00000396403.4	+	4	460	c.332C>T	c.(331-333)gCa>gTa	p.A111V	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	111					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		AGCCATGAAGCACCCATGACA	0.388																																						dbGAP											0													135.0	139.0	138.0					19																	53993818		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK091460	CCDS46172.1	19q13.41	2013-01-08			ENSG00000198346	ENSG00000198346		"""Zinc fingers, C2H2-type"", ""-"""	33257	protein-coding gene	gene with protein product							Standard	NM_001004301		Approved	FLJ16542	uc002qbu.2	Q6ZN06	OTTHUMG00000158309	ENST00000396403.4:c.332C>T	19.37:g.53993818C>T	ENSP00000379684:p.Ala111Val	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A111V	ENST00000396403.4	37	c.332	CCDS46172.1	19	.	.	.	.	.	.	.	.	.	.	C	0.094	-1.161896	0.01673	.	.	ENSG00000198346	ENST00000468450;ENST00000396403;ENST00000490956	T;T;T	0.05319	4.17;3.46;5.16	0.467	-0.934	0.10428	.	.	.	.	.	T	0.04861	0.0131	L	0.31664	0.95	0.09310	N	1	P	0.45283	0.855	P	0.44447	0.45	T	0.36841	-0.9731	9	0.21014	T	0.42	.	3.8959	0.09139	0.0:0.4179:0.0:0.5821	.	111	Q6ZN06	ZN813_HUMAN	V	58;111;142	ENSP00000419821:A58V;ENSP00000379684:A111V;ENSP00000418289:A142V	ENSP00000379684:A111V	A	+	2	0	ZNF813	58685630	0.000000	0.05858	0.001000	0.08648	0.024000	0.10985	-3.579000	0.00425	-0.417000	0.07461	-1.026000	0.02426	GCA	ZNF813	-	NULL	ENSG00000198346		0.388	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF813	HGNC	protein_coding	OTTHUMT00000350638.1	183	0.00	0	C	NM_001004301		53993818	53993818	+1	no_errors	ENST00000396403	ensembl	human	known	69_37n	missense	98	13.27	15	SNP	0.005	T
ZNF827	152485	genome.wustl.edu	37	4	146823477	146823477	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr4:146823477C>A	ENST00000508784.1	-	2	1161	c.934G>T	c.(934-936)Gag>Tag	p.E312*	ZNF827_ENST00000513320.1_Intron|ZNF827_ENST00000379448.4_Nonsense_Mutation_p.E312*			Q17R98	ZN827_HUMAN	zinc finger protein 827	312	Pro-rich.				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(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					AGAGGGTCCTCAGGCAGCAGC	0.612																																						dbGAP											0													74.0	84.0	80.0					4																	146823477		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"""Zinc fingers, C2H2-type"""	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.934G>T	4.37:g.146823477C>A	ENSP00000421863:p.Glu312*	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZL52|Q7Z4S7|Q8N279	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E312*	ENST00000508784.1	37	c.934		4	.	.	.	.	.	.	.	.	.	.	C	39	7.488811	0.98316	.	.	ENSG00000151612	ENST00000508784;ENST00000379448;ENST00000281318	.	.	.	5.27	5.27	0.74061	.	0.073695	0.56097	D	0.000039	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-10.8626	18.8685	0.92303	0.0:1.0:0.0:0.0	.	.	.	.	X	312;312;311	.	ENSP00000281318:E311X	E	-	1	0	ZNF827	147042927	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	5.283000	0.65621	2.453000	0.82957	0.555000	0.69702	GAG	ZNF827	-	NULL	ENSG00000151612		0.612	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	ZNF827	HGNC	protein_coding	OTTHUMT00000364654.2	101	0.98	1	C	NM_178835		146823477	146823477	-1	no_errors	ENST00000508784	ensembl	human	known	69_37n	nonsense	82	26.79	30	SNP	1.000	A
ZNF83	55769	genome.wustl.edu	37	19	53117179	53117179	+	Silent	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:53117179G>C	ENST00000597597.1	-	2	2892	c.639C>G	c.(637-639)gtC>gtG	p.V213V	ZNF83_ENST00000545872.1_Silent_p.V213V|ZNF83_ENST00000544146.1_Silent_p.V213V|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000541777.2_Silent_p.V213V|ZNF83_ENST00000536937.1_Silent_p.V213V|ZNF83_ENST00000391789.4_Silent_p.V213V|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000301096.3_Silent_p.V213V			P51522	ZNF83_HUMAN	zinc finger protein 83	213					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(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TTTGATGGAAGACCTTTCCAC	0.378																																						dbGAP											0													92.0	86.0	88.0					19																	53117179		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"""Zinc fingers, C2H2-type"""	13158	protein-coding gene	gene with protein product		194558	"""zinc finger protein 83 (HPF1)"", ""zinc finger protein 816B"""	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000597597.1:c.639C>G	19.37:g.53117179G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MT75|Q3ZCX0|Q6PI08	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V213	ENST00000597597.1	37	c.639	CCDS12854.1	19																																																																																			ZNF83	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000167766		0.378	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF83	HGNC	protein_coding	OTTHUMT00000463700.1	68	0.00	0	G	NM_018300		53117179	53117179	-1	no_errors	ENST00000301096	ensembl	human	known	69_37n	silent	37	22.92	11	SNP	0.000	C
ZNF850	342892	genome.wustl.edu	37	19	37239616	37239616	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:37239616G>A	ENST00000591344.1	-	5	2484	c.2326C>T	c.(2326-2328)Cag>Tag	p.Q776*	ZNF850_ENST00000589390.1_Intron	NM_001193552.1|NM_001267779.1	NP_001180481.1|NP_001254708.1	A8MQ14	ZN850_HUMAN	zinc finger protein 850	776					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										TGTATTTGCTGATGTTGAATT	0.373																																						dbGAP											0																																										-	-	-	SO:0001587	stop_gained	0			BC052603	CCDS59379.1, CCDS74350.1	19q13.12	2013-01-08	2010-08-02	2010-08-02		ENSG00000267041		"""Zinc fingers, C2H2-type"", ""-"""	27994	protein-coding gene	gene with protein product			"""zinc finger protein 850 pseudogene"", ""zinc finger protein 850 (pseudogene)"""	ZNF850P		12477932	Standard	NM_001193552		Approved		uc010efc.3	A8MQ14		ENST00000591344.1:c.2326C>T	19.37:g.37239616G>A	ENSP00000464976:p.Gln776*	Somatic		WXS	Illumina GAIIx	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.Q776*	ENST00000591344.1	37	c.2326	CCDS59379.1	19																																																																																			ZNF850	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000267041		0.373	ZNF850-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF850	HGNC	protein_coding	OTTHUMT00000453557.1	12	0.00	0	G	XM_001720258		37239616	37239616	-1	no_errors	ENST00000591344	ensembl	human	known	69_37n	nonsense	3	57.14	4	SNP	0.010	A
ZNF845	91664	genome.wustl.edu	37	19	53848773	53848773	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:53848773C>A	ENST00000595091.1	+	4	249	c.30C>A	c.(28-30)ttC>ttA	p.F10L	ZNF845_ENST00000458035.1_Missense_Mutation_p.F10L			Q96IR2	ZN845_HUMAN	zinc finger protein 845	10	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)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TATTGACATTCAGGGATGTGG	0.443																																						dbGAP											0													80.0	76.0	77.0					19																	53848773		692	1591	2283	-	-	-	SO:0001583	missense	0			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.30C>A	19.37:g.53848773C>A	ENSP00000470005:p.Phe10Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F10L	ENST00000595091.1	37	c.30	CCDS46170.1	19	.	.	.	.	.	.	.	.	.	.	C	9.670	1.146591	0.21288	.	.	ENSG00000213799	ENST00000458035;ENST00000359916;ENST00000427984	T	0.07114	3.22	1.85	1.85	0.25348	Krueppel-associated box (4);	.	.	.	.	T	0.24812	0.0602	M	0.91249	3.19	0.19945	N	0.99994	P	0.51057	0.941	P	0.55577	0.779	T	0.09250	-1.0683	9	0.87932	D	0	.	4.4369	0.11555	0.0:0.7932:0.0:0.2068	.	10	Q96IR2	ZN845_HUMAN	L	10	ENSP00000388311:F10L	ENSP00000352990:F10L	F	+	3	2	ZNF845	58540585	0.010000	0.17322	0.447000	0.26932	0.225000	0.24961	-0.270000	0.08584	1.048000	0.40298	0.134000	0.15878	TTC	ZNF845	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000213799		0.443	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	ZNF845	HGNC	protein_coding	OTTHUMT00000464359.1	245	0.00	0	C	XM_039908		53848773	53848773	+1	no_errors	ENST00000458035	ensembl	human	known	69_37n	missense	150	25.00	50	SNP	0.682	A
ZNF853	54753	genome.wustl.edu	37	7	6660905	6660905	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:6660905G>C	ENST00000457543.3	+	3	841	c.283G>C	c.(283-285)Gaa>Caa	p.E95Q		NM_017560.1	NP_060030.1	P0CG23	ZN853_HUMAN	zinc finger protein 853	95	Gln-rich.						metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(1)|kidney(1)	2						gcagcagttagaacagcagcc	0.627																																						dbGAP											0													31.0	48.0	43.0					7																	6660905		692	1591	2283	-	-	-	SO:0001583	missense	0			AL133055	CCDS59048.1	7p22.1	2013-01-08				ENSG00000236609		"""Zinc fingers, C2H2-type"""	21767	protein-coding gene	gene with protein product							Standard	NM_017560		Approved	DKFZp434J1015	uc011jwz.2	P0CG23		ENST00000457543.3:c.283G>C	7.37:g.6660905G>C	ENSP00000455585:p.Glu95Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E95Q	ENST00000457543.3	37	c.283	CCDS59048.1	7																																																																																			ZNF853	-	NULL	ENSG00000236609		0.627	ZNF853-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF853	HGNC	protein_coding	OTTHUMT00000324169.2	40	0.00	0	G	NM_017560		6660905	6660905	+1	no_errors	ENST00000457543	ensembl	human	known	69_37n	missense	40	16.67	8	SNP	0.000	C
ZNF93	81931	genome.wustl.edu	37	19	20045094	20045094	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:20045094G>T	ENST00000343769.5	+	4	1358	c.1330G>T	c.(1330-1332)Gag>Tag	p.E444*	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	444					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						TAGTAAACATGAGATCATTCA	0.388																																						dbGAP											0													66.0	64.0	64.0					19																	20045094		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			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.1330G>T	19.37:g.20045094G>T	ENSP00000342002:p.Glu444*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMY2|B9EGT2|Q8N8Q4|Q9H9X5|Q9Y2N8	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.E444*	ENST00000343769.5	37	c.1330	CCDS32973.1	19	.	.	.	.	.	.	.	.	.	.	N	15.48	2.845182	0.51164	.	.	ENSG00000184635	ENST00000343769;ENST00000427325	.	.	.	0.814	-1.63	0.08345	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.3092	0.07011	0.2736:0.4454:0.281:0.0	.	.	.	.	X	444;416	.	ENSP00000342002:E444X	E	+	1	0	ZNF93	19906094	0.000000	0.05858	0.010000	0.14722	0.010000	0.07245	-3.808000	0.00361	-1.114000	0.02977	-1.101000	0.02118	GAG	ZNF93	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000184635		0.388	ZNF93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF93	HGNC	protein_coding	OTTHUMT00000460808.2	30	0.00	0	G	NM_031218		20045094	20045094	+1	no_errors	ENST00000343769	ensembl	human	known	69_37n	nonsense	18	18.18	4	SNP	0.745	T
ZNF99	7652	genome.wustl.edu	37	19	22942449	22942449	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:22942449C>G	ENST00000596209.1	-	4	352	c.262G>C	c.(262-264)Gat>Cat	p.D88H	ZNF99_ENST00000397104.3_Missense_Mutation_p.D109H	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	88					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)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				ATGCTCTGATCTGGCCAAAAG	0.294																																						dbGAP											0													52.0	46.0	48.0					19																	22942449		1819	4096	5915	-	-	-	SO:0001583	missense	0			BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.262G>C	19.37:g.22942449C>G	ENSP00000472969:p.Asp88His	Somatic		WXS	Illumina GAIIx	Phase_IV	M0R335	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.D109H	ENST00000596209.1	37	c.325	CCDS59369.1	19	.	.	.	.	.	.	.	.	.	.	N	2.624	-0.287933	0.05605	.	.	ENSG00000213973	ENST00000397104	T	0.06371	3.31	0.937	-0.278	0.12894	.	.	.	.	.	T	0.04679	0.0127	N	0.11560	0.145	0.09310	N	1	P	0.46706	0.883	P	0.50192	0.634	T	0.37033	-0.9723	9	0.40728	T	0.16	.	2.7959	0.05401	0.0:0.5895:0.0:0.4105	.	109	A8MXY4	ZNF99_HUMAN	H	109	ENSP00000380293:D109H	ENSP00000380293:D109H	D	-	1	0	ZNF99	22734289	0.000000	0.05858	0.018000	0.16275	0.017000	0.09413	-1.837000	0.01689	0.394000	0.25230	0.395000	0.25975	GAT	ZNF99	-	NULL	ENSG00000213973		0.294	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	ZNF99	HGNC	protein_coding	OTTHUMT00000464591.1	124	0.00	0	C	XM_065124		22942449	22942449	-1	no_errors	ENST00000397104	ensembl	human	known	69_37n	missense	76	22.45	22	SNP	0.003	G
ZNF91	7644	genome.wustl.edu	37	19	23544861	23544861	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:23544861G>A	ENST00000300619.7	-	4	1125	c.920C>T	c.(919-921)tCa>tTa	p.S307L	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.S275L	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	307					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)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				AGCAAGGGTTGAAGAATGGCT	0.403																																						dbGAP											0													76.0	79.0	78.0					19																	23544861		2173	4285	6458	-	-	-	SO:0001583	missense	0			M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.920C>T	19.37:g.23544861G>A	ENSP00000300619:p.Ser307Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5E1|B7Z6G6	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.S307L	ENST00000300619.7	37	c.920	CCDS42541.1	19	.	.	.	.	.	.	.	.	.	.	G	11.65	1.701103	0.30142	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.01705	4.68;4.68	1.97	1.97	0.26223	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03178	0.0093	M	0.75777	2.31	0.09310	N	1	P;P	0.52061	0.82;0.95	B;B	0.39258	0.295;0.199	T	0.41197	-0.9522	9	0.66056	D	0.02	.	10.9757	0.47465	0.0:0.0:1.0:0.0	.	275;307	Q05481-2;Q05481	.;ZNF91_HUMAN	L	307;275	ENSP00000300619:S307L;ENSP00000380272:S275L	ENSP00000300619:S307L	S	-	2	0	ZNF91	23336701	0.001000	0.12720	0.002000	0.10522	0.004000	0.04260	0.758000	0.26447	1.100000	0.41517	0.162000	0.16502	TCA	ZNF91	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000167232		0.403	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF91	HGNC	protein_coding	OTTHUMT00000465891.1	78	0.00	0	G	NM_003430		23544861	23544861	-1	no_errors	ENST00000300619	ensembl	human	known	69_37n	missense	52	22.39	15	SNP	0.002	A
ZNFX1	57169	genome.wustl.edu	37	20	47870299	47870299	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:47870299G>A	ENST00000396105.1	-	11	3255	c.3009C>T	c.(3007-3009)gtC>gtT	p.V1003V	ZNFX1_ENST00000371754.4_Silent_p.V1003V|ZNFX1_ENST00000371752.1_Silent_p.V1003V	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1003							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CTTCCACTATGACAATCCTCG	0.532																																						dbGAP											0													262.0	240.0	248.0					20																	47870299		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.3009C>T	20.37:g.47870299G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Silent	SNP	superfamily_ARM-type_fold,smart_Znf_NFX1	p.V1003	ENST00000396105.1	37	c.3009	CCDS13417.1	20																																																																																			ZNFX1	-	NULL	ENSG00000124201		0.532	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNFX1	HGNC	protein_coding	OTTHUMT00000079647.2	87	0.00	0	G	NM_021035		47870299	47870299	-1	no_errors	ENST00000371752	ensembl	human	known	69_37n	silent	133	23.12	40	SNP	1.000	A
ZNFX1	57169	genome.wustl.edu	37	20	47887533	47887533	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr20:47887533G>A	ENST00000396105.1	-	3	1062	c.816C>T	c.(814-816)ctC>ctT	p.L272L	ZNFX1_ENST00000371754.4_Silent_p.L272L|ZNFX1_ENST00000371752.1_Silent_p.L272L	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	272							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AGGTTGGCAGGAGGGAAACCA	0.488																																						dbGAP											0													96.0	99.0	98.0					20																	47887533		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.816C>T	20.37:g.47887533G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Silent	SNP	superfamily_ARM-type_fold,smart_Znf_NFX1	p.L272	ENST00000396105.1	37	c.816	CCDS13417.1	20																																																																																			ZNFX1	-	superfamily_ARM-type_fold	ENSG00000124201		0.488	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNFX1	HGNC	protein_coding	OTTHUMT00000079647.2	89	0.00	0	G	NM_021035		47887533	47887533	-1	no_errors	ENST00000371752	ensembl	human	known	69_37n	silent	119	13.77	19	SNP	0.996	A
ZNHIT1	10467	genome.wustl.edu	37	7	100867000	100867000	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:100867000G>A	ENST00000305105.2	+	4	848	c.320G>A	c.(319-321)gGa>gAa	p.G107E	ZNHIT1_ENST00000492315.1_3'UTR	NM_006349.2	NP_006340.1	O43257	ZNHI1_HUMAN	zinc finger, HIT-type containing 1	107	Interaction with NR1D2.				negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of histone deacetylation (GO:0031063)|regulation of T cell proliferation (GO:0042129)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)	11	Lung NSC(181;0.168)|all_lung(186;0.215)					GCCTGTGCGGGACCCCCATCG	0.662																																						dbGAP											0													49.0	54.0	52.0					7																	100867000		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF093571	CCDS5716.1	7q22.1	2010-09-15	2010-09-15	2003-08-08	ENSG00000106400	ENSG00000106400		"""Zinc fingers, HIT-type"""	21688	protein-coding gene	gene with protein product	"""putative cyclin G1 interacting protein"""		"""zinc finger protein, subfamily 4A (HIT domain containing), member 1"", ""zinc finger, HIT domain containing 1"""	ZNFN4A1			Standard	NM_006349		Approved	CG1I, H_DJ0747G18.14	uc003uye.3	O43257	OTTHUMG00000157113	ENST00000305105.2:c.320G>A	7.37:g.100867000G>A	ENSP00000304593:p.Gly107Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IB12	Missense_Mutation	SNP	pfam_Znf_HIT,pfscan_Znf_HIT	p.G107E	ENST00000305105.2	37	c.320	CCDS5716.1	7	.	.	.	.	.	.	.	.	.	.	G	13.03	2.114174	0.37339	.	.	ENSG00000106400	ENST00000305105	.	.	.	5.26	4.32	0.51571	.	0.322836	0.30093	N	0.010425	T	0.12347	0.0300	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.17198	-1.0377	9	0.11794	T	0.64	-21.6166	11.5505	0.50719	0.0:0.3067:0.6933:0.0	.	107	O43257	ZNHI1_HUMAN	E	107	.	ENSP00000304593:G107E	G	+	2	0	ZNHIT1	100653720	1.000000	0.71417	0.035000	0.18076	0.831000	0.47069	4.586000	0.60984	2.475000	0.83589	0.549000	0.68633	GGA	ZNHIT1	-	NULL	ENSG00000106400		0.662	ZNHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNHIT1	HGNC	protein_coding	OTTHUMT00000347488.1	51	0.00	0	G	NM_006349		100867000	100867000	+1	no_errors	ENST00000305105	ensembl	human	known	69_37n	missense	36	38.98	23	SNP	0.049	A
ZP2	7783	genome.wustl.edu	37	16	21210926	21210926	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr16:21210926G>T	ENST00000574002.1	-	17	2374	c.1892C>A	c.(1891-1893)tCt>tAt	p.S631Y	AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000219593.4_Missense_Mutation_p.S631Y|ZP2_ENST00000574091.1_Missense_Mutation_p.S622Y			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	631	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				binding of sperm to zona pellucida (GO:0007339)|intracellular protein transport (GO:0006886)|multicellular organism reproduction (GO:0032504)|prevention of polyspermy (GO:0060468)|signal transduction (GO:0007165)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|coreceptor activity (GO:0015026)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		GCAGGTCACAGAACACAGTGG	0.448																																						dbGAP											0													122.0	116.0	118.0					16																	21210926		2200	4300	6500	-	-	-	SO:0001583	missense	0			M90366	CCDS10596.1, CCDS73843.1	16p12	2014-07-04			ENSG00000103310	ENSG00000103310		"""Zona pellucida glycoproteins"""	13188	protein-coding gene	gene with protein product		182888				8385033	Standard	XM_005255562		Approved	ZPA	uc002dii.2	Q05996	OTTHUMG00000090681	ENST00000574002.1:c.1892C>A	16.37:g.21210926G>T	ENSP00000460971:p.Ser631Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Missense_Mutation	SNP	pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr	p.S631Y	ENST00000574002.1	37	c.1892	CCDS10596.1	16	.	.	.	.	.	.	.	.	.	.	G	20.2	3.950643	0.73787	.	.	ENSG00000103310	ENST00000219593	D	0.83419	-1.72	5.73	5.73	0.89815	Zona pellucida sperm-binding protein (3);	0.214010	0.32736	N	0.005709	D	0.91253	0.7243	M	0.83312	2.635	0.39909	D	0.974006	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.994	D	0.92534	0.6036	10	0.87932	D	0	-12.3699	14.1141	0.65142	0.074:0.0:0.926:0.0	.	622;631	Q4VAP1;Q05996	.;ZP2_HUMAN	Y	631	ENSP00000219593:S631Y	ENSP00000219593:S631Y	S	-	2	0	ZP2	21118427	0.996000	0.38824	0.893000	0.35052	0.951000	0.60555	2.718000	0.47236	2.719000	0.93026	0.579000	0.79373	TCT	ZP2	-	pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105	ENSG00000103310		0.448	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZP2	HGNC	protein_coding	OTTHUMT00000207365.2	106	0.00	0	G			21210926	21210926	-1	no_errors	ENST00000219593	ensembl	human	known	69_37n	missense	75	27.18	28	SNP	0.965	T
ZP3	7784	genome.wustl.edu	37	7	76054333	76054333	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:76054333G>A	ENST00000394857.3	+	1	110	c.52G>A	c.(52-54)Gag>Aag	p.E18K	ZP3_ENST00000336517.4_Intron	NM_001110354.1	NP_001103824.1	P21754	ZP3_HUMAN	zona pellucida glycoprotein 3 (sperm receptor)	18					binding of sperm to zona pellucida (GO:0007339)|blastocyst formation (GO:0001825)|calcium ion transmembrane transport (GO:0070588)|egg coat formation (GO:0035803)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|negative regulation of transcription, DNA-templated (GO:0045892)|oocyte development (GO:0048599)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of acrosomal vesicle exocytosis (GO:2000368)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of antral ovarian follicle growth (GO:2000388)|positive regulation of calcium ion import (GO:0090280)|positive regulation of humoral immune response (GO:0002922)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of ovarian follicle development (GO:2000386)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type IV hypersensitivity (GO:0001809)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|outer acrosomal membrane (GO:0002081)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|carbohydrate binding (GO:0030246)|manganese ion transmembrane transporter activity (GO:0005384)|signal transducer activity (GO:0004871)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						GGGTAGTACTGAGCTGTGCTA	0.607																																						dbGAP											0													11.0	11.0	11.0					7																	76054333		692	1588	2280	-	-	-	SO:0001583	missense	0			M60504	CCDS5586.1, CCDS47618.1	7q11.23	2014-07-04	2002-09-17	2002-09-20	ENSG00000188372	ENSG00000188372		"""Zona pellucida glycoproteins"""	13189	protein-coding gene	gene with protein product		182889	"""zona pellucida glycoprotein 3A (sperm receptor)"""	ZP3A, ZP3B		1478648	Standard	NM_007155		Approved	ZP3-424, ZP3-372, ZPC	uc003ufd.4	P21754	OTTHUMG00000130575	ENST00000394857.3:c.52G>A	7.37:g.76054333G>A	ENSP00000378326:p.Glu18Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q06633|Q29RW0	Missense_Mutation	SNP	pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr	p.E18K	ENST00000394857.3	37	c.52	CCDS47618.1	7	.	.	.	.	.	.	.	.	.	.	G	14.62	2.588312	0.46110	.	.	ENSG00000188372	ENST00000394857;ENST00000544121	T	0.12569	2.67	5.32	4.41	0.53225	.	.	.	.	.	T	0.22085	0.0532	L	0.45137	1.4	0.39000	D	0.959328	D	0.61697	0.99	P	0.57204	0.815	T	0.01266	-1.1401	9	0.29301	T	0.29	.	13.1451	0.59456	0.0:0.0:0.8399:0.1601	.	18	P21754	ZP3_HUMAN	K	18	ENSP00000378326:E18K	ENSP00000378326:E18K	E	+	1	0	ZP3	75892269	0.000000	0.05858	0.814000	0.32528	0.031000	0.12232	-0.116000	0.10724	2.490000	0.84030	0.467000	0.42956	GAG	ZP3	-	NULL	ENSG00000188372		0.607	ZP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZP3	HGNC	protein_coding	OTTHUMT00000253004.1	11	0.00	0	G			76054333	76054333	+1	no_errors	ENST00000394857	ensembl	human	known	69_37n	missense	11	35.29	6	SNP	0.125	A
ZP4	57829	genome.wustl.edu	37	1	238053779	238053779	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:238053779G>C	ENST00000366570.4	-	1	315	c.157C>G	c.(157-159)Cct>Gct	p.P53A	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	53					acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			ATTAGTACAGGAGGAGACGTT	0.493																																					NSCLC(166;160 2029 11600 18754 19936)	dbGAP											0													70.0	68.0	69.0					1																	238053779		2203	4300	6503	-	-	-	SO:0001583	missense	0			U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"""Zona pellucida glycoproteins"""	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.157C>G	1.37:g.238053779G>C	ENSP00000355529:p.Pro53Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAE1	Missense_Mutation	SNP	pfam_Zona_pellucida_Endoglin/CD105,pfam_P_trefoil,superfamily_P_trefoil,smart_P_trefoil,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr	p.P53A	ENST00000366570.4	37	c.157	CCDS1615.1	1	.	.	.	.	.	.	.	.	.	.	G	10.82	1.458564	0.26248	.	.	ENSG00000116996	ENST00000366570	T	0.73789	-0.78	4.38	4.38	0.52667	.	0.311141	0.23235	N	0.050406	T	0.81302	0.4794	M	0.80982	2.52	0.09310	N	1	D	0.59357	0.985	P	0.53360	0.724	T	0.74917	-0.3501	10	0.54805	T	0.06	-13.4503	12.3099	0.54922	0.0:0.0:1.0:0.0	.	53	Q12836	ZP4_HUMAN	A	53	ENSP00000355529:P53A	ENSP00000355529:P53A	P	-	1	0	ZP4	236120402	0.042000	0.20092	0.029000	0.17559	0.019000	0.09904	1.595000	0.36708	2.276000	0.75962	0.655000	0.94253	CCT	ZP4	-	NULL	ENSG00000116996		0.493	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZP4	HGNC	protein_coding	OTTHUMT00000095476.1	33	0.00	0	G			238053779	238053779	-1	no_errors	ENST00000366570	ensembl	human	known	69_37n	missense	38	19.15	9	SNP	0.063	C
ZSCAN12P1	221584	genome.wustl.edu	37	6	28060518	28060518	+	RNA	SNP	G	G	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr6:28060518G>T	ENST00000529104.1	+	0	733					NR_024063.2				zinc finger and SCAN domain containing 12 pseudogene 1																		CCTGCCAGAGGAGCTCCAAGC	0.507																																						dbGAP											0																																										-	-	-			0			BC040524		6p21.33	2010-04-14	2010-04-14	2010-04-14	ENSG00000219891	ENSG00000219891			13850	pseudogene	pseudogene			"""zinc finger protein 305 pseudogene 1"", ""zinc finger protein 96 pseudogene 1"", ""zinc finger protein 96-like 1"", ""zinc finger and SCAN domain containing 12-like 1"""	ZNF305P1, ZNF96P1, ZNF96L1, ZSCAN12L1			Standard	NR_024063		Approved	ZNF187p1, dJ313I6.7	uc003nkj.5		OTTHUMG00000014502		6.37:g.28060518G>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000529104.1	37	NULL		6																																																																																			ZSCAN12P1	-	-	ENSG00000219891		0.507	ZSCAN12P1-002	KNOWN	basic	processed_transcript	ZSCAN12P1	HGNC	pseudogene	OTTHUMT00000390441.1	33	0.00	0	G	NR_024063		28060518	28060518	+1	no_errors	ENST00000529104	ensembl	human	known	69_37n	rna	15	28.57	6	SNP	0.095	T
ZSCAN2	54993	genome.wustl.edu	37	15	85164113	85164113	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr15:85164113G>C	ENST00000448803.2	+	3	979	c.687G>C	c.(685-687)aaG>aaC	p.K229N	ZSCAN2_ENST00000327179.6_Missense_Mutation_p.K228N|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000358472.3_Missense_Mutation_p.K79N|ZSCAN2_ENST00000546148.1_Missense_Mutation_p.K229N|ZSCAN2_ENST00000538076.1_Intron	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	229					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|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)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		AGTGTGGGAAGACCTTCAGCC	0.527																																						dbGAP											0													95.0	99.0	98.0					15																	85164113		2203	4299	6502	-	-	-	SO:0001583	missense	0			BC041620	CCDS10329.2, CCDS32315.1, CCDS32316.1	15q25.2	2013-01-08	2004-11-01	2004-11-02	ENSG00000176371	ENSG00000176371		"""-"", ""Zinc fingers, C2H2-type"""	20994	protein-coding gene	gene with protein product			"""zinc finger protein 29"""	ZFP29		1937051	Standard	NM_017894		Approved	FLJ20595, ZNF854	uc002bkr.3	Q7Z7L9	OTTHUMG00000074027	ENST00000448803.2:c.687G>C	15.37:g.85164113G>C	ENSP00000410198:p.Lys229Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NG83|B2RMQ9|Q6ZQY9|Q9NWU4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.K229N	ENST00000448803.2	37	c.687	CCDS10329.2	15	.	.	.	.	.	.	.	.	.	.	G	16.17	3.046635	0.55110	.	.	ENSG00000176371	ENST00000448803;ENST00000546148;ENST00000358472;ENST00000327179;ENST00000379353	T;T;T;T	0.61158	0.13;0.13;0.13;0.13	5.19	-2.94	0.05581	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000016	T	0.75598	0.3871	M	0.91561	3.22	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.964	T	0.76383	-0.2979	9	.	.	.	-26.5178	10.967	0.47418	0.5523:0.0:0.4477:0.0	.	229;229	A8K5A9;Q7Z7L9	.;ZSCA2_HUMAN	N	229;229;79;228;210	ENSP00000410198:K229N;ENSP00000445451:K229N;ENSP00000351257:K79N;ENSP00000325123:K228N	.	K	+	3	2	ZSCAN2	82965117	0.034000	0.19679	0.978000	0.43139	0.988000	0.76386	0.316000	0.19469	-0.613000	0.05694	-0.251000	0.11542	AAG	ZSCAN2	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000176371		0.527	ZSCAN2-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZSCAN2	HGNC	protein_coding	OTTHUMT00000396956.1	35	0.00	0	G	NM_017894		85164113	85164113	+1	no_errors	ENST00000448803	ensembl	human	known	69_37n	missense	26	27.78	10	SNP	0.849	C
ZSCAN21	7589	genome.wustl.edu	37	7	99655492	99655492	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr7:99655492C>G	ENST00000292450.4	+	3	735	c.571C>G	c.(571-573)Caa>Gaa	p.Q191E	ZSCAN21_ENST00000456748.2_Missense_Mutation_p.Q191E|ZSCAN21_ENST00000477297.1_3'UTR|ZSCAN21_ENST00000543588.1_Missense_Mutation_p.Q191E	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	191					positive regulation of transcription, DNA-templated (GO:0045893)|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)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GGAGTTCGCTCAAGATCCAAG	0.542																																						dbGAP											0													49.0	50.0	50.0					7																	99655492		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL136865	CCDS5681.1	7q11.1	2013-01-08	2006-10-06	2006-10-06	ENSG00000166529	ENSG00000166529		"""-"", ""Zinc fingers, C2H2-type"""	13104	protein-coding gene	gene with protein product		601261	"""zinc finger protein 38 (KOX 25)"", ""zinc finger protein 38"""	ZNF38		2288909, 2014798	Standard	NM_145914		Approved	DKFZp434L134, NY-REN-21, Zipro1	uc003uso.3	Q9Y5A6	OTTHUMG00000154583	ENST00000292450.4:c.571C>G	7.37:g.99655492C>G	ENSP00000292450:p.Gln191Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D2A6|D6W5T9|Q9H0B5	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.Q191E	ENST00000292450.4	37	c.571	CCDS5681.1	7	.	.	.	.	.	.	.	.	.	.	C	10.26	1.302479	0.23736	.	.	ENSG00000166529	ENST00000543588;ENST00000292450;ENST00000456748;ENST00000379635	T;T;T	0.05447	4.44;3.44;4.44	4.81	3.92	0.45320	.	0.486350	0.15449	N	0.261742	T	0.03520	0.0101	N	0.19112	0.55	0.09310	N	1	B;P	0.38597	0.017;0.639	B;B	0.34301	0.007;0.179	T	0.36432	-0.9748	10	0.10636	T	0.68	.	8.274	0.31862	0.0:0.8956:0.0:0.1044	.	191;191	Q9Y5A6;G3V1M0	ZSC21_HUMAN;.	E	191;191;191;166	ENSP00000441212:Q191E;ENSP00000292450:Q191E;ENSP00000390960:Q191E	ENSP00000292450:Q191E	Q	+	1	0	ZSCAN21	99493428	0.000000	0.05858	0.015000	0.15790	0.030000	0.12068	0.350000	0.20079	2.674000	0.91012	0.655000	0.94253	CAA	ZSCAN21	-	NULL	ENSG00000166529		0.542	ZSCAN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN21	HGNC	protein_coding	OTTHUMT00000336166.1	52	0.00	0	C	NM_145914		99655492	99655492	+1	no_errors	ENST00000292450	ensembl	human	known	69_37n	missense	56	16.42	11	SNP	0.009	G
ZSCAN22	342945	genome.wustl.edu	37	19	58850027	58850027	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr19:58850027C>T	ENST00000329665.4	+	3	958	c.811C>T	c.(811-813)Cgc>Tgc	p.R271C		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	271					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)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		CTCCAAGTGTCGCGAGTGTAG	0.542																																						dbGAP											0													192.0	196.0	195.0					19																	58850027		2203	4300	6503	-	-	-	SO:0001583	missense	0			M20675	CCDS12975.1	19q13.43	2013-01-08	2006-09-20	2006-09-20				"""-"", ""Zinc fingers, C2H2-type"""	4929	protein-coding gene	gene with protein product	"""oncogene HKR2"""	165260	"""zinc finger protein 50"", ""GLI-Kruppel family member HKR2"""	ZNF50, HKR2		2850480, 1505991	Standard	NM_181846		Approved		uc002qsc.2	P10073		ENST00000329665.4:c.811C>T	19.37:g.58850027C>T	ENSP00000332433:p.Arg271Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15922|Q7Z3L8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.R271C	ENST00000329665.4	37	c.811	CCDS12975.1	19	.	.	.	.	.	.	.	.	.	.	C	11.35	1.613925	0.28712	.	.	ENSG00000182318	ENST00000329665	T	0.08102	3.13	3.96	-0.72	0.11195	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02727	0.0082	N	0.08118	0	0.09310	N	1	P	0.36616	0.561	B	0.24974	0.057	T	0.38735	-0.9647	9	0.66056	D	0.02	.	0.5875	0.00722	0.3373:0.1821:0.3112:0.1694	.	271	P10073	ZSC22_HUMAN	C	271	ENSP00000332433:R271C	ENSP00000332433:R271C	R	+	1	0	ZSCAN22	63541839	0.000000	0.05858	0.001000	0.08648	0.032000	0.12392	-3.550000	0.00434	0.079000	0.16929	0.313000	0.20887	CGC	ZSCAN22	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000182318		0.542	ZSCAN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN22	HGNC	protein_coding	OTTHUMT00000466765.1	46	0.00	0	C	NM_181846		58850027	58850027	+1	no_errors	ENST00000329665	ensembl	human	known	69_37n	missense	42	17.65	9	SNP	0.000	T
ZSWIM5	57643	genome.wustl.edu	37	1	45484876	45484876	+	Silent	SNP	G	G	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:45484876G>A	ENST00000359600.5	-	14	3013	c.2808C>T	c.(2806-2808)ctC>ctT	p.L936L		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	936						extracellular space (GO:0005615)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					AGTCAAGACTGAGGCGCAGGA	0.557											OREG0013450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													45.0	47.0	46.0					1																	45484876		1990	4141	6131	-	-	-	SO:0001819	synonymous_variant	0			AB040944	CCDS41319.1	1p34.1	2010-06-16			ENSG00000162415	ENSG00000162415		"""Zinc fingers, SWIM-type"""	29299	protein-coding gene	gene with protein product						10819331	Standard	NM_020883		Approved	KIAA1511	uc001cnd.2	Q9P217	OTTHUMG00000008950	ENST00000359600.5:c.2808C>T	1.37:g.45484876G>A		Somatic	932	WXS	Illumina GAIIx	Phase_IV	Q5SXQ9	Silent	SNP	pfscan_Znf_SWIM	p.L936	ENST00000359600.5	37	c.2808	CCDS41319.1	1																																																																																			ZSWIM5	-	NULL	ENSG00000162415		0.557	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSWIM5	HGNC	protein_coding	OTTHUMT00000024823.2	63	0.00	0	G	XM_046581		45484876	45484876	-1	no_errors	ENST00000359600	ensembl	human	known	69_37n	silent	58	24.68	19	SNP	1.000	A
ZSWIM5	57643	genome.wustl.edu	37	1	45501903	45501903	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:45501903C>A	ENST00000359600.5	-	9	2168	c.1963G>T	c.(1963-1965)Gag>Tag	p.E655*	AL359473.1_ENST00000583502.1_RNA	NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	655						extracellular space (GO:0005615)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					AGGTAGGACTCACTGCTGTTT	0.532																																						dbGAP											0													58.0	57.0	57.0					1																	45501903		1987	4157	6144	-	-	-	SO:0001587	stop_gained	0			AB040944	CCDS41319.1	1p34.1	2010-06-16			ENSG00000162415	ENSG00000162415		"""Zinc fingers, SWIM-type"""	29299	protein-coding gene	gene with protein product						10819331	Standard	NM_020883		Approved	KIAA1511	uc001cnd.2	Q9P217	OTTHUMG00000008950	ENST00000359600.5:c.1963G>T	1.37:g.45501903C>A	ENSP00000352614:p.Glu655*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5SXQ9	Nonsense_Mutation	SNP	pfscan_Znf_SWIM	p.E655*	ENST00000359600.5	37	c.1963	CCDS41319.1	1	.	.	.	.	.	.	.	.	.	.	c	40	8.295579	0.98747	.	.	ENSG00000162415	ENST00000359600	.	.	.	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-15.8726	19.649	0.95793	0.0:1.0:0.0:0.0	.	.	.	.	X	655	.	ENSP00000352614:E655X	E	-	1	0	ZSWIM5	45274490	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.719000	0.84751	2.826000	0.97356	0.655000	0.94253	GAG	ZSWIM5	-	NULL	ENSG00000162415		0.532	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSWIM5	HGNC	protein_coding	OTTHUMT00000024823.2	45	0.00	0	C	XM_046581		45501903	45501903	-1	no_errors	ENST00000359600	ensembl	human	known	69_37n	nonsense	51	27.14	19	SNP	1.000	A
ZXDB	158586	genome.wustl.edu	37	X	57620690	57620690	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chrX:57620690C>G	ENST00000374888.1	+	1	2422	c.2209C>G	c.(2209-2211)Ctg>Gtg	p.L737V		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	737					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						CACAGATGCTCTGACTCCTTC	0.507																																						dbGAP											0													142.0	103.0	116.0					X																	57620690		2203	4300	6503	-	-	-	SO:0001583	missense	0			L14788	CCDS35313.1	Xp11.1	2013-01-08			ENSG00000198455	ENSG00000198455		"""Zinc fingers, C2H2-type"""	13199	protein-coding gene	gene with protein product		300236				8268913	Standard	NM_007157		Approved	ZNF905	uc004dvd.3	P98169	OTTHUMG00000021685	ENST00000374888.1:c.2209C>G	X.37:g.57620690C>G	ENSP00000364023:p.Leu737Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K151|Q9UBB3	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L737V	ENST00000374888.1	37	c.2209	CCDS35313.1	X	.	.	.	.	.	.	.	.	.	.	.	14.34	2.507622	0.44558	.	.	ENSG00000198455	ENST00000374888	T	0.10005	2.92	3.91	3.03	0.35002	.	0.270289	0.30556	N	0.009365	T	0.21509	0.0518	L	0.58101	1.795	0.43512	D	0.995779	D	0.69078	0.997	D	0.72625	0.978	T	0.01071	-1.1461	10	0.45353	T	0.12	.	4.6885	0.12769	0.0:0.7399:0.0:0.2601	.	737	P98169	ZXDB_HUMAN	V	737	ENSP00000364023:L737V	ENSP00000364023:L737V	L	+	1	2	ZXDB	57637415	1.000000	0.71417	0.983000	0.44433	0.991000	0.79684	2.868000	0.48436	1.954000	0.56735	0.529000	0.55759	CTG	ZXDB	-	NULL	ENSG00000198455		0.507	ZXDB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZXDB	HGNC	protein_coding	OTTHUMT00000056922.1	125	0.00	0	C	NM_007157		57620690	57620690	+1	no_errors	ENST00000374888	ensembl	human	known	69_37n	missense	149	17.22	31	SNP	0.997	G
ZZEF1	23140	genome.wustl.edu	37	17	3954097	3954097	+	Silent	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:3954097C>G	ENST00000381638.2	-	36	5965	c.5841G>C	c.(5839-5841)ctG>ctC	p.L1947L		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1947							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GAGCCTTCATCAGACAGTCCC	0.547																																						dbGAP											0													66.0	60.0	62.0					17																	3954097		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.5841G>C	17.37:g.3954097C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Nonstop_Mutation	SNP	pfam_Znf_ZZ,smart_Znf_ZZ,pfscan_Znf_ZZ	p.*335S	ENST00000381638.2	37	c.1004	CCDS11043.1	17																																																																																			ZZEF1	-	NULL	ENSG00000074755		0.547	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZZEF1	HGNC	protein_coding	OTTHUMT00000207480.1	36	0.00	0	C	NM_015113		3954097	3954097	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000573183	ensembl	human	putative	69_37n	nonstop	35	23.91	11	SNP	1.000	G
ZZEF1	23140	genome.wustl.edu	37	17	4017735	4017735	+	Missense_Mutation	SNP	C	C	G	rs546462540	byFrequency	TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr17:4017735C>G	ENST00000381638.2	-	4	848	c.724G>C	c.(724-726)Gag>Cag	p.E242Q	snoU13_ENST00000459263.1_RNA|ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	242	DOC. {ECO:0000255|PROSITE- ProRule:PRU00614}.						calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TTATCCATCTCTGGACTTCTA	0.388													C|||	2	0.000399361	0.0	0.0	5008	,	,		19560	0.0		0.0	False		,,,				2504	0.002					dbGAP											0													132.0	124.0	126.0					17																	4017735		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.724G>C	17.37:g.4017735C>G	ENSP00000371051:p.Glu242Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB,smart_EF_hand_Ca-bd,smart_Znf_ZZ,pfscan_EF_HAND_2,pfscan_Znf_ZZ	p.E242Q	ENST00000381638.2	37	c.724	CCDS11043.1	17	.	.	.	.	.	.	.	.	.	.	C	19.64	3.864666	0.71949	.	.	ENSG00000074755	ENST00000381638	T	0.64618	-0.11	5.23	5.23	0.72850	Anaphase-promoting complex, subunit 10/DOC domain (1);Galactose-binding domain-like (1);	0.107337	0.64402	D	0.000005	T	0.71626	0.3362	L	0.49126	1.545	0.58432	D	0.999994	D;D	0.76494	0.998;0.999	D;D	0.68621	0.959;0.959	T	0.68633	-0.5357	10	0.31617	T	0.26	-17.2121	13.7529	0.62919	0.1537:0.8463:0.0:0.0	.	242;242	O43149-3;O43149	.;ZZEF1_HUMAN	Q	242	ENSP00000371051:E242Q	ENSP00000371051:E242Q	E	-	1	0	ZZEF1	3964484	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.461000	0.80834	2.420000	0.82092	0.557000	0.71058	GAG	ZZEF1	-	superfamily_Galactose-bd-like	ENSG00000074755		0.388	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZZEF1	HGNC	protein_coding	OTTHUMT00000207480.1	91	0.00	0	C	NM_015113		4017735	4017735	-1	no_errors	ENST00000381638	ensembl	human	known	69_37n	missense	87	23.01	26	SNP	1.000	G
ZZZ3	26009	genome.wustl.edu	37	1	78097563	78097563	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A23H-01A-11D-A159-09	TCGA-AC-A23H-11A-12D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cee435b5-c424-4f9d-a834-ec90c1807913	15408151-7d19-4d24-a9a1-bc9f913d5e36	g.chr1:78097563C>G	ENST00000370801.3	-	5	1952	c.1477G>C	c.(1477-1479)Gat>Cat	p.D493H	ZZZ3_ENST00000370798.1_Intron|ZZZ3_ENST00000476275.1_5'UTR	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	493					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						GCCACATGATCTGATTCAAAG	0.363																																						dbGAP											0													118.0	111.0	113.0					1																	78097563		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"""Zinc fingers, ZZ-type"""	24523	protein-coding gene	gene with protein product	"""ATAC component 1 homolog (Drosophila)"""					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.1477G>C	1.37:g.78097563C>G	ENSP00000359837:p.Asp493His	Somatic		WXS	Illumina GAIIx	Phase_IV	B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Missense_Mutation	SNP	pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Znf_ZZ,pfscan_Myb-like_dom	p.D493H	ENST00000370801.3	37	c.1477	CCDS677.1	1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.308458	0.60305	.	.	ENSG00000036549	ENST00000370801	.	.	.	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.76449	0.3989	M	0.72353	2.195	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.999	T	0.77830	-0.2442	9	0.87932	D	0	.	19.6004	0.95559	0.0:1.0:0.0:0.0	.	493;493;493	Q8IYH5-4;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	H	493	.	ENSP00000359837:D493H	D	-	1	0	ZZZ3	77870151	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.382000	0.79729	2.808000	0.96608	0.655000	0.94253	GAT	ZZZ3	-	NULL	ENSG00000036549		0.363	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZZZ3	HGNC	protein_coding	OTTHUMT00000026615.1	99	0.00	0	C	NM_015534		78097563	78097563	-1	no_errors	ENST00000370801	ensembl	human	known	69_37n	missense	52	29.73	22	SNP	1.000	G
